Mapping SNPs HEXA

Comparison of mutations in HGMD and SNP-DB

• Mutations annotated in both databases:

Position	Amino Acids	Codons
26	Trp -> Ter	TGGc -> TGA
39	Leu -> Arg	CTT -> CGT
127	Leu -> Phe	aCTC -> TTC
127	Leu -> Arg	CTC -> CGC
137	Arg -> Ter	cCGA -> TGA
170	Arg -> Trp	cCGG -> TGG
170	Arg -> Gln	CGG -> CAG
178	Arg -> His	CGC -> CAC
178	Arg -> Leu	CGC -> CTC
178	Arg -> Cys	tCGC -> TGC
180	Tyr -> Ter	TACc -> TAG
180	Tyr -> His	tTAC -> CAC
197	Lys -> Thr	AAA -> ACA
200	Val -> Met	cGTG -> ATG
204	His -> Arg	CAT -> CGT
210	Ser -> Phe	TCC -> TTC
211	Phe -> Ser	TTC -> TCC
247	Arg -> Trp	aCGG -> TGG
250	Gly -> Ser	gGGT -> AGT
250	Gly -> Asp	GGT -> GAT
250	Gly -> Val	GGT -> GTT
258	Asp -> His	tGAC -> CAC
269	Gly -> Ser	aGGT -> AGT
269	Gly -> Asp	GGT -> GAT
301	Met -> Arg	ATG -> AGG
329	Trp -> Ter	TGG -> TAG
393	Arg -> Ter	gCGA -> TGA
420	Trp -> Cys	TGGt -> TGC
420	Trp -> Cys	TGGt -> TGT
451	Leu -> Val	tCTG -> GTG
454	Gly -> Asp	GGT -> GAT
454	Gly -> Ser	tGGT -> AGT
474	Trp -> Cys	TGGc -> TGC
482	Glu -> Lys	cGAA -> AAA
485	Trp -> Arg	gTGG -> CGG
499	Arg -> Cys	aCGT -> TGT
499	Arg -> His	CGT -> CAT
504	Arg -> Cys	cCGC -> TGC
504	Arg -> His	CGC -> CAC

Mutations annotated only in HGMD: not found

Mutations annotated only in SNP-DB:

Position	Amino Acids	Codons
248	Asp -> Lys	GAA -> AAA
	Arg -> Glu	CGA -> CAA
	Pro -> Pro	CCG -> CCA
203	STOP -> Arg	TGA -> CGA
	Leu -> Pro	CTG -> CCG
	Thr -> Thr	ACT -> ACC
179	Val -> Leu	GTA -> CTA
	Ser -> Thr	AGT -> ACT
	Asp -> Asp	GAG -> GAC
191	Asp -> Asn	GAC -> AAC
	Arg -> Lys	AGA -> AAA
	Asp -> Asp	GAG -> GAA
116	Phe -> Leu	TTC -> CTC
	Leu -> Pro	CTT -> CCT
	Thr -> Thr	ACT -> ACC
116	Ser -> Pro	TCC -> CCC
	Phe -> Ser	TTC -> TCC
	Val -> Val	GTT -> GTC
446	Gly -> Arg	GGG -> AGG
	Arg -> Glu	CGG -> CAG
	Ser -> Ser	TCG -> TCA
324	STOP -> Arg		TGA -> CGA
	STOP -> Arg	TGA -> AGA
	test	972A>T -> 972A>T
	Val -> Val	GTC -> GTA
85	Leu -> Leu	TTG -> CTG
	Phe -> Ser	TTT -> TCT
	Leu -> Leu	CTT -> CTC
85	Val -> Met	GTG -> ATG
	Ser -> Asn	AGT -> AAT
	Lys -> Lys	AAG -> AAA
85	Leu -> Leu	TTA -> CTA
	Val -> Ala	GTT -> GCT
	Gly -> Gly	GGT -> GGC
85	Tyr -> His	TAC -> CAC
	Iso -> Thr	ATA -> ACA
	Tyr -> Tyr	TAT -> TAC
85	Cys -> Arg	TGC -> CGC
	Leu -> Pro	CTG -> CCG
	Ser -> Ser	TCT -> TCC
85	Trp -> Arg	TGG -> CGG
	Leu -> Ser	TTG -> TCG
	Leu -> Leu	CTT -> CTC
85	Val -> Leu	GTG -> CTG
	Cys -> Ser	TGT -> TCT
	Leu -> Leu	CTG -> CTC
85	Cys -> Arg	TGC -> CGC
	Met -> Thr	ATG -> ACG
	Tyr -> Tyr	TAT -> TAC
358	Asp -> His	GAT -> CAT
	Arg -> Thr	AGA -> ACA
	Glu -> His	CAG -> CAC
85	Ala -> Pro	GCT -> CCT
	Arg -> Pro	CGC -> CCC
	Ser -> Ser	TCG -> TCC
269	Val -> Iso	GTT -> ATT
	Gly -> Asp	GGT -> GAT
	Trp -> STOP	TGG -> TGA
269	STOP -> Arg	TGA -> CGA
	Leu -> Pro	CTG -> CCG
	Pro -> Pro	CCT -> CCC
138	Asp -> Lys	GAG -> AAG
	Arg -> Lys	AGA -> AAA
	Lys -> Lys	AAG -> AAA
85	Phe -> Leu	TTC -> CTC
	Phe -> Ser	TTT -> TCT
	Phe -> Phe	TTT -> TTC
138	Asp -> Lys	GAA -> AAA
	STOP -> STOP	TGA -> TAA
	Leu -> Leu	TTG -> TTA
85	Val -> Iso	GTA -> ATA
	Cys -> Tyr	TGT -> TAT
	Leu -> Leu	TTG -> TTA
109	Phe -> Leu	TTT -> CTT
	Leu -> Pro	CTT -> CCT
	Thr -> Thr	ACT -> ACC
191	Ala -> Thr	GCC -> ACC
	Arg -> His	CGC -> CAC
	Ser -> Ser	TCG -> TCA
138	Glu -> Lys	CAA -> AAA
	Thr -> Lys	ACA -> AAA
	Asp -> Asp	GAC -> GAA
85	Cys -> Arg	TGT -> CGT
	Leu -> Pro	CTG -> CCG
	Pro -> Pro	CCT -> CCC
85	Asp -> Asn	GAT -> AAT
	STOP -> STOP	TGA -> TAA
	Met -> Iso	ATG -> ATA
116	Ser -> Ala	TCT -> GCT
	Phe -> Cys	TTC -> TGC
	Iso -> Met	ATT -> ATG
85	Glu -> Lys	CAG -> AAG
	Thr -> Lys	ACA -> AAA
	Asp -> Asp	GAC -> GAA
85	Ser -> Pro	TCT -> CCT
	Phe -> Ser	TTC -> TCC
	Leu -> Leu	CTT -> CTC
474	Trp -> Arg	TGG -> CGG
	Met -> Thr	ATG -> ACG
	Tyr -> Tyr	TAT -> TAC
85	Ala -> Thr	GCT -> ACT
	Arg -> His	CGC -> CAC
	Ser -> Ser	TCG -> TCA
540	STOP -> Glu	TAG -> CAG
	Iso -> Thr	ATA -> ACA
	His -> His	CAT -> CAC
476	Val -> Iso	GTT -> ATT
	Ser -> Asn	AGT -> AAT
	Lys -> Lys	AAG -> AAA
29	Phe -> Leu	TTC -> CTC
	Val -> Ala	GTT -> GCT
	Cys -> Cys	TGT -> TGC
85	Trp -> Arg	TGG -> CGG
	Leu -> Ser	TTG -> TCG
	Phe -> Phe	TTT -> TTC
85	Leu -> Iso	CTA -> ATA
	Ser -> Tyr	TCT -> TAT
	Phe -> Leu	TTC -> TTA
138	Asp -> Lys	GAG -> AAG
	STOP -> STOP	TGA -> TAA
	Leu -> Leu	CTG -> CTA
85	Gly -> Arg	GGA -> AGA
	Arg -> Lys	AGG -> AAG
	STOP -> STOP	TAG -> TAA
85	Val -> Leu	GTC -> CTC
	Gly -> Ala	GGT -> GCT
	Gly -> Gly	GGG -> GGC
208	Leu -> Leu	TTG -> CTG
	Iso -> Thr	ATT -> ACT
	Tyr -> Tyr	TAT -> TAC
358	Trp -> Arg	TGG -> AGG
	Leu -> Glu	CTG -> CAG
	Pro -> Pro	CCT -> CCA
358	Trp -> Gly	TGG -> GGG
	Val -> Gly	GTG -> GGG
	Ser -> Arg	AGT -> AGG
444	Ser -> Pro	TCA -> CCA
	Phe -> Ser	TTC -> TCC
	Leu -> Leu	CTT -> CTC
474	Leu -> Leu	TTG -> CTG
	Val -> Ala	GTT -> GCT
	Gly -> Gly	GGT -> GGC
509	STOP -> Glu	TAG -> CAG
	Iso -> Thr	ATA -> ACA
	Tyr -> Tyr	TAT -> TAC
85	Asp -> Glu	GAG -> CAG
	STOP -> Ser	TGA -> TCA
	Val -> Val	GTG -> GTC
85	Val -> Leu	GTT -> CTT
	Ser -> Thr	AGT -> ACT
	Asp -> Asp	GAG -> GAC
3	Phe -> Leu	TTC -> CTC
	Val -> Ala	GTT -> GCT
	Ser -> Ser	AGT -> AGC
85	Glu -> Lys	CAG -> AAG
	Ala -> Asp	GCA -> GAA
	Cys -> STOP	TGC -> TGA
85	Asp -> Asn	GAC -> AAC
	Arg -> Glu	CGA -> CAA
	Pro -> Pro	CCG -> CCA