Difference between revisions of "Task 5 - Mapping SNPs Canavan"

Revision as of 10:17, 8 June 2012

First impression

Protocol

Further information can be found in the protocol.

HGMD

74 (79 in 2012 professional) total for cDNA sequence NM_000049.2 and amino acid sequence NP_000040.1, out of which

47 missense/nonsense
5 splicing
12 small deletions
2 small insertions
1 indel
7 gross deletions

link to search

SNPdbe

55 total, includes predicted functional effect. 29 of these 55 labelled as involved in Canavan Disease.

link to search

dbSNP

same identifiers for sequence as HGMD
"synonymous-codon"[Function_Class] AND ASPA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS] yields only 9 results
505 results for SNPs in general in human
- 458 for NP_000040.1 (coding: 23)
- 493 for NP_001121557.1 (coding: 23)

SNPedia

links to other pages

Coding SNPs

Residue Position	Identifier	Reference DB	Year	SNP Type	Mutation
114	, CM960086, CM023014	SNPDBe, HGMD	-	missense	D114Y
111	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
281	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
195	, CM990195	SNPDBe, HGMD	-	missense	M195R
280	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
33	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
157	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
285	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
154	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
288	, CM034717	SNPDBe, HGMD	-	missense	Y288F
152	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
153	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
286	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
287	, CM990198	SNPDBe, HGMD	-	missense	A287T
82	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
244	, CM023607, CM063848	SNPDBe, HGMD	-	missense	H244R
249	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
202	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
68	, CM023603	SNPDBe, HGMD	-	missense	D68A
121	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
123	, CM960087	SNPDBe, HGMD	-	missense	G123E
305	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
24	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
270	rs200126822	dbSNP, SNPDBe	-	missense	I270T
272	CM063851	HGMD	2006	missense	L272P
166	CM063847	HGMD	2006	missense	T166I
26	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
27	, CM960085	SNPDBe, HGMD	-	missense	G27R
274	, CM950104	SNPDBe, HGMD	-	missense	G274R
168	, CM001610, CM960089	SNPDBe, HGMD	-	missense	R168H
239	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
277	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
278	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
164		SNPDBe	-	missense	Y164F
279	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
4	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
231	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
71	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
236	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
235	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
57	, CM001609	SNPDBe, HGMD	-	missense	A57T
213	CM055097	HGMD	2005	missense	K213E
214	CM023606	HGMD	2002	missense	E214Ter
314	CM023608	HGMD	2002	missense	Ter314W
18	CM067343	HGMD	2006	missense	G18R
178		SNPDBe	-	missense	E178A
218	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
16	, CM960084	SNPDBe, HGMD	-	missense	I16T
310		SNPDBe	-	missense	C310G
14	CM063852	HGMD	2006	missense	V14G
170	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
21	, CM001608	SNPDBe, HGMD	-	missense	H21P
109	CM990192	HGMD	1999	missense	Y109Ter
220	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
143	rs199565861, CM980125, CM063849	dbSNP, SNPDBe, HGMD	-	missense	I143V
93	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A
226	rs201887670, CM086530	dbSNP, HGMD	-	missense	I226K
295	, CM950105	SNPDBe, HGMD	-	missense	F295S
181	, CM063850, CM001611	SNPDBe, HGMD	-	missense	P181T
183	, CM990193	SNPDBe, HGMD	-	missense	P183H
184	CM023605	HGMD	2002	missense	Q184Ter
186	, CM990194	SNPDBe, HGMD	-	missense	V186F
53	rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124	dbSNP, SNPDBe, OMIM, HGMD	-	missense	E305A

MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLF
   R         G T R  P  G TR     R                   A   T          A  K          T          A       
GPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIK
        r V  Y      D E                   V        RYI  T      F I H T       A  T Hr F        R     
HALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTK
 S          Er   r T     K    r   KN  T    R    V                    T P R  TMHLM   AATF      S     
LTLNAKSIRCCLH-
    E    G   W

@@ Line 31: / Line 31: @@
 == Coding SNPs ==
 <table cellspacing=0 align="center" cellpadding=5><tr><td style="border-bottom:solid;border-right:solid;"><b>Residue Position</b></td><td style="border-bottom:solid;border-right:solid;"><b>Identifier</b></td><td style="border-bottom:solid;border-right:solid;"><b>Reference DB</b></td><td style="border-bottom:solid;border-right:solid;"><b>Year</b></td><td style="border-bottom:solid;border-right:solid;"><b>SNP Type</b></td><td style="border-bottom:solid;border-right:solid;"><b>Mutation</b></td></tr><tr><td style="border-right:solid" align="left" >114</td><td style="border-right:solid" align="left">, CM960086, CM023014</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">D114Y</td></tr>
-<tr><td style="border-right:solid" align="left" >111</td><td style="border-right:solid" align="left">rs181347986, rs181347986 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I111V</td></tr>
+<tr><td style="border-right:solid" align="left" >111</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >281</td><td style="border-right:solid" align="left">rs141858640, rs141858640 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">V281M</td></tr>
+<tr><td style="border-right:solid" align="left" >281</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >195</td><td style="border-right:solid" align="left">, CM990195</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">M195R</td></tr>
-<tr><td style="border-right:solid" align="left" >280</td><td style="border-right:solid" align="left">rs148081446, rs148081446 , CM990196, CM990197</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">synonymous</td><td style="border-right:solid" align="left">P280P</td></tr>
+<tr><td style="border-right:solid" align="left" >280</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >33</td><td style="border-right:solid" align="left">rs138158568, rs138158568 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">H33R</td></tr>
+<tr><td style="border-right:solid" align="left" >33</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >157</td><td style="border-right:solid" align="left">rs140357187, rs140357187 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I157T</td></tr>
+<tr><td style="border-right:solid" align="left" >157</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >285</td><td style="border-right:solid" align="left">rs28940279, rs28940279 , CM930046</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E285A</td></tr>
+<tr><td style="border-right:solid" align="left" >285</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >154</td><td style="border-right:solid" align="left">rs2228435, rs147193431 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">V154I</td></tr>
+<tr><td style="border-right:solid" align="left" >154</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >288</td><td style="border-right:solid" align="left">, CM034717</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">Y288F</td></tr>
-<tr><td style="border-right:solid" align="left" >152</td><td style="border-right:solid" align="left">rs104894548, rs104894548 , CM950102, CM960088, CM023604</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">C152R</td></tr>
+<tr><td style="border-right:solid" align="left" >152</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >153</td><td style="border-right:solid" align="left">rs141755746, rs141755746 </td><td style="border-right:solid" align="left">dbSNP</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">synonymous</td><td style="border-right:solid" align="left">Y153Y</td></tr>
+<tr><td style="border-right:solid" align="left" >153</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >286</td><td style="border-right:solid" align="left">rs138062143, rs138062143 </td><td style="border-right:solid" align="left">dbSNP</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">synonymous</td><td style="border-right:solid" align="left">A286A</td></tr>
+<tr><td style="border-right:solid" align="left" >286</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >287</td><td style="border-right:solid" align="left">, CM990198</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">A287T</td></tr>
-<tr><td style="border-right:solid" align="left" >82</td><td style="border-right:solid" align="left">rs80099330, rs80099330 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">M82T</td></tr>
+<tr><td style="border-right:solid" align="left" >82</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >244</td><td style="border-right:solid" align="left">, CM023607, CM063848</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">H244R</td></tr>
-<tr><td style="border-right:solid" align="left" >249</td><td style="border-right:solid" align="left">rs104894552, rs104894552 , CM023015</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">D249V</td></tr>
+<tr><td style="border-right:solid" align="left" >249</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >202</td><td style="border-right:solid" align="left">rs147763700, rs147763700 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">A202S</td></tr>
+<tr><td style="border-right:solid" align="left" >202</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >68</td><td style="border-right:solid" align="left">, CM023603</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">D68A</td></tr>
-<tr><td style="border-right:solid" align="left" >121</td><td style="border-right:solid" align="left">rs148451498, rs148451498 , CM063846</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">N121D</td></tr>
+<tr><td style="border-right:solid" align="left" >121</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >123</td><td style="border-right:solid" align="left">, CM960087</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">G123E</td></tr>
-<tr><td style="border-right:solid" align="left" >305</td><td style="border-right:solid" align="left">rs28940574, rs28940574 , CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">A305E</td></tr>
+<tr><td style="border-right:solid" align="left" >305</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >24</td><td style="border-right:solid" align="left">rs104894551, rs104894551 , CM023602</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E24G</td></tr>
+<tr><td style="border-right:solid" align="left" >24</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >270</td><td style="border-right:solid" align="left">rs200126822</td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I270T</td></tr>
 <tr><td style="border-right:solid" align="left" >272</td><td style="border-right:solid" align="left">CM063851</td><td style="border-right:solid" align="left">HGMD</td><td style="border-right:solid" align="left">2006</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">L272P</td></tr>
 <tr><td style="border-right:solid" align="left" >166</td><td style="border-right:solid" align="left">CM063847</td><td style="border-right:solid" align="left">HGMD</td><td style="border-right:solid" align="left">2006</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">T166I</td></tr>
-<tr><td style="border-right:solid" align="left" >26</td><td style="border-right:solid" align="left">rs145616193, rs145616193 </td><td style="border-right:solid" align="left">dbSNP</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">synonymous</td><td style="border-right:solid" align="left">T26T</td></tr>
+<tr><td style="border-right:solid" align="left" >26</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >27</td><td style="border-right:solid" align="left">, CM960085</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">G27R</td></tr>
 <tr><td style="border-right:solid" align="left" >274</td><td style="border-right:solid" align="left">, CM950104</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">G274R</td></tr>
 <tr><td style="border-right:solid" align="left" >168</td><td style="border-right:solid" align="left">, CM001610, CM960089</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">R168H</td></tr>
-<tr><td style="border-right:solid" align="left" >239</td><td style="border-right:solid" align="left">rs145085349, rs145085349 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I239T</td></tr>
+<tr><td style="border-right:solid" align="left" >239</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >277</td><td style="border-right:solid" align="left">rs78677072, rs78677072 </td><td style="border-right:solid" align="left">dbSNP</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">synonymous</td><td style="border-right:solid" align="left">T277T</td></tr>
+<tr><td style="border-right:solid" align="left" >277</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >278</td><td style="border-right:solid" align="left">rs140581464, rs140581464 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">V278M</td></tr>
+<tr><td style="border-right:solid" align="left" >278</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >164</td><td style="border-right:solid" align="left"></td><td style="border-right:solid" align="left">SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">Y164F</td></tr>
-<tr><td style="border-right:solid" align="left" >279</td><td style="border-right:solid" align="left">rs145717248, rs145717248 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">Y279H</td></tr>
+<tr><td style="border-right:solid" align="left" >279</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >4</td><td style="border-right:solid" align="left">rs142041344, rs142041344 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">C4R</td></tr>
+<tr><td style="border-right:solid" align="left" >4</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >231</td><td style="border-right:solid" align="left">rs1805136, rs12948217, rs104894550, rs104894550 , rs12948217 , CM994594, CM940123</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">Y231Ter</td></tr>
+<tr><td style="border-right:solid" align="left" >231</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >71</td><td style="border-right:solid" align="left">rs104894553, rs104894553 , CM060201</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">R71H</td></tr>
+<tr><td style="border-right:solid" align="left" >71</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >236</td><td style="border-right:solid" align="left">rs149189911, rs149189911 </td><td style="border-right:solid" align="left">dbSNP</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">synonymous</td><td style="border-right:solid" align="left">N236N</td></tr>
+<tr><td style="border-right:solid" align="left" >236</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
-<tr><td style="border-right:solid" align="left" >235</td><td style="border-right:solid" align="left">rs149842031, rs149842031 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E235K</td></tr>
+<tr><td style="border-right:solid" align="left" >235</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >57</td><td style="border-right:solid" align="left">, CM001609</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">A57T</td></tr>
 <tr><td style="border-right:solid" align="left" >213</td><td style="border-right:solid" align="left">CM055097</td><td style="border-right:solid" align="left">HGMD</td><td style="border-right:solid" align="left">2005</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">K213E</td></tr>
@@ Line 76: / Line 76: @@
 <tr><td style="border-right:solid" align="left" >18</td><td style="border-right:solid" align="left">CM067343</td><td style="border-right:solid" align="left">HGMD</td><td style="border-right:solid" align="left">2006</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">G18R</td></tr>
 <tr><td style="border-right:solid" align="left" >178</td><td style="border-right:solid" align="left"></td><td style="border-right:solid" align="left">SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E178A</td></tr>
-<tr><td style="border-right:solid" align="left" >218</td><td style="border-right:solid" align="left">rs104894549, rs104894549 , CM950103</td><td style="border-right:solid" align="left">dbSNP, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">C218Ter</td></tr>
+<tr><td style="border-right:solid" align="left" >218</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >16</td><td style="border-right:solid" align="left">, CM960084</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I16T</td></tr>
 <tr><td style="border-right:solid" align="left" >310</td><td style="border-right:solid" align="left"></td><td style="border-right:solid" align="left">SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">C310G</td></tr>
 <tr><td style="border-right:solid" align="left" >14</td><td style="border-right:solid" align="left">CM063852</td><td style="border-right:solid" align="left">HGMD</td><td style="border-right:solid" align="left">2006</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">V14G</td></tr>
-<tr><td style="border-right:solid" align="left" >170</td><td style="border-right:solid" align="left">rs144321760, rs144321760 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I170T</td></tr>
+<tr><td style="border-right:solid" align="left" >170</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >21</td><td style="border-right:solid" align="left">, CM001608</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">H21P</td></tr>
 <tr><td style="border-right:solid" align="left" >109</td><td style="border-right:solid" align="left">CM990192</td><td style="border-right:solid" align="left">HGMD</td><td style="border-right:solid" align="left">1999</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">Y109Ter</td></tr>
-<tr><td style="border-right:solid" align="left" >220</td><td style="border-right:solid" align="left">rs139053885, rs139053885 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I220T</td></tr>
+<tr><td style="border-right:solid" align="left" >220</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >143</td><td style="border-right:solid" align="left">rs199565861, CM980125, CM063849</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I143V</td></tr>
-<tr><td style="border-right:solid" align="left" >93</td><td style="border-right:solid" align="left">rs144639820, rs144639820 </td><td style="border-right:solid" align="left">dbSNP</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">synonymous</td><td style="border-right:solid" align="left">A93A</td></tr>
+<tr><td style="border-right:solid" align="left" >93</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 <tr><td style="border-right:solid" align="left" >226</td><td style="border-right:solid" align="left">rs201887670, CM086530</td><td style="border-right:solid" align="left">dbSNP, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">I226K</td></tr>
 <tr><td style="border-right:solid" align="left" >295</td><td style="border-right:solid" align="left">, CM950105</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">F295S</td></tr>
@@ Line 92: / Line 92: @@
 <tr><td style="border-right:solid" align="left" >184</td><td style="border-right:solid" align="left">CM023605</td><td style="border-right:solid" align="left">HGMD</td><td style="border-right:solid" align="left">2002</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">Q184Ter</td></tr>
 <tr><td style="border-right:solid" align="left" >186</td><td style="border-right:solid" align="left">, CM990194</td><td style="border-right:solid" align="left">SNPDBe, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">V186F</td></tr>
-<tr><td style="border-right:solid" align="left" >53</td><td style="border-right:solid" align="left">rs17850703, rs17850703 </td><td style="border-right:solid" align="left">dbSNP, SNPDBe</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">T53A</td></tr>
+<tr><td style="border-right:solid" align="left" >53</td><td style="border-right:solid" align="left">rs28940574 , rs142041344, rs104894551, rs145616193, rs138158568, rs17850703, rs104894553, rs80099330, rs144639820, rs181347986, rs148451498, rs104894548, rs141755746, rs2228435, rs140357187, rs144321760, rs147763700, rs104894549, rs139053885, rs1805136, rs12948217, rs104894550, rs149842031, rs149189911, rs145085349, rs104894552, rs78677072, rs140581464, rs145717248, rs148081446, rs141858640, rs28940279, rs138062143, CM023602, CM060201, CM063846, CM950102, CM960088, CM023604, CM950103, CM994594, CM940123, CM023015, CM990196, CM990197, CM930046, CM940124</td><td style="border-right:solid" align="left">dbSNP, SNPDBe, OMIM, HGMD</td><td style="border-right:solid" align="left">-</td><td style="border-right:solid" align="left">missense</td><td style="border-right:solid" align="left">E305A</td></tr>
 </table>

Difference between revisions of "Task 5 - Mapping SNPs Canavan"

Revision as of 10:17, 8 June 2012

Contents

First impression

Protocol

HGMD

SNPdbe

dbSNP

SNPedia

Coding SNPs

Navigation menu

Views

Personal tools

Bioinformatik navigation

MediaWiki navigation

Search

Tools