Mapping SNPs BCKDHA

General

Maple syrup urine disease is an autosomal recessive disorder that affects the amino acid metabolism. The disease is caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex which blocks oxidative decarboxylation. The result is a rising concentration of branched-chain amino acids. MSUD is caused by mutations in the gene coding for the alpha subunit of the branched-chain keto acid dehydrogenase(BCKDHA).

HGMD

Searching for "BCKDHA" a total of 39 mutations are reported, comprised of the following mutation types:

• missense/nonsense: 33 mutations
• small deletions: 3 mutations
• small insertions: 1 mutation
• gross deletions: 1 mutation
• complex rearrangements: 1 mutation

For us the missense/nonsense mutations are the most interesting ones, as a single nucleotide change can lead to the phenotype of Maple Syrup Urine Disease.

Codon change	Amino Acid change	Codon number
gCAG-GAG	Gln-Glu	80
ACG-ATG	THr-Met	106
cCGG-TGG	Arg-Trp	114
gTAT-AAAT	Tyr-Asn	121
CGG-CAG	Arg-Gln	122
cCAG-AAG	Gln-Lys	145
ATC-ACC	Ile-Thr	168
GCG-GTG	Ala-Val	171
GCG-GTG	Ala-Val	175
cGGC-AGC	Gly-Ser	204
cGCT-ACT	Ala-Thr	208
TGC-TAC	Cys-Thr	213
cCGG-TGG	Arg-Trp	220
AAT-AGT	Asn-Ser	222
GGC-GAC	Gly-Asp	238
tGCA-CCA	Ala-Pro	240
aCGA-TGA	Arg-Term	242
cGGG-AGG	Gly-Arg	245
cCGC-TGC	Arg-Cys	252
CGC-CAC	Arg-His	252
tGGT-AGT	Gly-Ser	255
GAT-GCT	Asp-Ala	257
ACA-AGA	Thr-Arg	265
cCGA-TGA	Arg-Term	269
ATC-ACC	Ile-Thr	281
cGAG-AAG	Glu-Lys	282
gGCC-ACC	Ala-Thr	283
CGC-CAC	Arg-His	301
cCGG-TGG	Arg-Trp	318
TTC-TGC	Phe-Cys	364
cGTG-ATG	Val-Met	367
TAT-TGT	Tyr-Cys	368
cTAC-AAC	Tyr-Asn	393

dbSNP

results for the SNPs search with BCKDHA:

-all: 742

-human: 371

SNPs in human

ID	mutation in sequence	amino acid	pos
rs61736656	ATTACTGGGATAAACAGGACCACCCC [A/G] TCTCCCGGCTGCGGCACTATCTGCT	R	51
rs1050647	GCTGGGTGAGGGCACATTCAGGACTA [A/G] AAGCCCCTCTGGGCATGGGGTGGAC	R	51
rs11549938	TCTCTGGAATCCCCATCTACCGCGTC [A/C] TGGACCGGCAAGGCCAGATCATCAA	M	51
rs11549937	ATCAACCCCAGCGAGGACCCCCACCT [C/G] CCGAAGGAGAAGGTGCTGAAGCTCT	S	51
rs3837930	CTTGTCCGATTGAATACTACTAAATA [-/A] CGCAGGGATACACACATCTCTCCCT	N	61
rs2288872	agagcaagactccgtctcaaaaaaat [A/G] taaaacaaaaTAAGCCAATACTGGA	R	61
rs76846304	TGAGATCCTGTCTCAAAAAAAAAAAA [-/A] AGGAAATTGAAGTCAAAGAGGGAAG	N	101
rs74844919	CAGGGTTTTTGTTTTGTTTTGTTTTT [-/T] TKTTTTTTCGAGGTGGAGTTTTGCT	N	101
rs79441216	AGGGTTTTTGTTTTGTTTTGTTTTTT [G/T] TTTTTTCGAGGTGGAGTTTTGCTCT	K	101
rs72544848	TTTTGGGGCACAGCTAGATCCAGGGG [-/C] GTCTTCCAGGCAGGAAGTAGAGGGA	N	101
rs79327728	TCCCGAGTAGCTGGGATTACAGGCAT [A/G] CACCACCATGCCTGGCTAATTTTGT	R	101
rs72544849	AGTATGGACCAGAGGATGTGRGGGGG [-/G] GAGCTGTGTGGTGTCTTGAGGCAGG	N	101
rs75568330	TTTTTTTGACTTGCCCTAATCTTAGG [-/A] GTATTTACTTGTGTGGAGAGATGCA	N	101
rs77987454	CTAGCCTTCAGTTCAGGGCATGATTT [A/G] GAGCAAATGTTCAGTATCTGTTTAA	R	101
rs75747655	TATGGGATAGGTGTTAACTGTTTTCA [C/T] CCCAGTTTTTCAGATGGGGAAACTG	Y	101
rs75610485	TCGCAGCTCACTGCAGCCTCCTTCTC [C/T] CAGCTTCAAGCAATTCTCCTGCCTC	Y	101
rs75905923	TGGAGTACAATGGCACGATCTCGGCC [C/T] ACTGCAACTTCTGCCTCCCAGGTTC	Y	101
rs76715304	CACTGAAGTATGGACCAGAGGATGTG [A/G] GGGGGGAGCTGTGTGGTGTCTTGAG	R	101
rs75348131	CCCAAGCTGGAGTGCAGTGGCACGAT [C/T] TCGGCTCACTGCAACCTCCACTTCC	Y	101
rs78441720	CTATGGGATAGGTGTTAACTGTTTTC [A/T] TCCCAGTTTTTCAGATGGGGAAACT	W	101
rs77449630	CTGCCATTGGGAGTGTAATTTCCTCA [C/G] GACTACAAATGCAAATAAATACACA	S	102
rs79447197	ACCTCTCTTTCCTTTTTCTTTTTTTT [C/T] CTTTTTTGAGACAGAGTTTCACTCT	Y	102
rs74372796	AAGTGAGACCTGCTCAGCCCACCCCC [A/C] CCCATCCTCAGCTACCCCGAGAGGT	M	102
rs76878345	TAATTTTTAAAATTTTTTGTAGAGAT [C/G] TGATCTCAGGCTGGTCTTGAACTCC	S	102
rs75733136	AGGCTGCAGCCAGGACCCCGAGGGCT [G/T] GACCCTGTTCCATTTTCAGCACGGA	K	102
rs78393603	ATGTAAATGCCACCATTCCCAGCTAA [A/T] TTTTTTTTTTTTTTTTAGATAGAGT	W	102
rs75969121	CAGGCTGGTCTTGAACCTGAGTTCAA [C/G] TGATCTGCCCACCTTGGCCTCTCAA	S	102
rs79430127	ACATGTAAATGCCACCATTCCCAGCT [A/T] ATTTTTTTTTTTTTTTTTAGATAGA	W	102
rs77558911	AAATTTTGGGTAGATAGATTTTTTTT [C/T] CTCCAAATCTCTGTGCATTCTATCT	Y	102
rs284656	TGTGTCCTGGCTCTGTGTCCTTGGCA [C/T] GTTGCCCTCCACTTCCTTGTCTTTG	Y	157
rs116827405	ATGAGATTTGAGTGGGGACAGAGACA [A/G] ACCATGTCAGTGTGTATTGTGGGAT	R	201
rs4803463	CAATCATGAGAAATACTTACTCACTA [C/G] TTGTGTTTATGAAACattatgtgcc	S	201
rs114279979	TCAGACACATCCACCTGCTCCTCTCC [C/T] GCCTCCCTCTGCTACCAAGCTGGGC	Y	201
rs79041147	TTTTGGGGCACAGCTAGATCCAGGGG [C/G] TCTTCCAGGCAGGAAGTAGAGGGAA	S	201
rs4803464	GAGCCCCAGCCAGACTGCTTGTCAGA [A/G] Ccctgcttggcttctcgccctggat	R	201
rs77124294	TTTTCACATCTTGAGGCACTGAATGG [C/T] TTACAAATCCAACTCTAATTTTTTA	Y	201
rs12327776	TGTGAGTTAACTTAGCAACTTTTCAC [A/G] TGGTGTTCTGCAGccttcttacaga	R	201
rs114716391	CTCACCACCCTCTCATCCCCTGCAGC [G/T] GTGGGGGCGGCGTACGCAGCCAAGC	K	201
rs117300044	AGCCCAGGAGTTCAAGACCAACCTGG [A/G] TGACATCGTGAGACGCTGTCTCAAT	R	201
rs112542121	TGCTGTTATTTGGTTCATAATGATGA [-/TT] TTTTTTTTTTTTTTCGAGACAGGGT	N	201
rs118171954	TTGCCTGATTTTCACCTCCCTTCCTG [C/T] CTCTGTTATCATAGCAGACGTTTTA	Y	201
rs116647608	GAGTGCAGCAGCATGATCTTGACTTA [C/T] TGCAATCTCTGCCTGCCGAGTTCAA	Y	201
rs76458824	TAGTCCCGGCAGTTGCTGCCTGCGGG [A/G] GATTGAGACCTCTGTTAACAGAGGA	R	201
rs1473248	AAGAAGGTCCAAGGGACTGATACAGG [A/G] CCTTGGAATCAGGCTTTCTCAGAAT	R	201
rs118051219	AGAGAGCTCCCTCTGAATAATGTTCC [C/T] GGTCTGAGTGCTTGCAGCATTGATC	Y	201
rs114843826	GGTAAGAACCTGAGTCAACAAAGGTG [A/G] GGTCATGGGCCCAGGCCACATTCTC	R	201
rs10406198	CTGGCAGTTCTAAGCAGTCTGGCAGC [A/G] TCTTCTTAAAGGCAGGAACCCCAGC	R	201
rs80014754	CTCTGCTCTCTTCCCCAGCACCCCCC [A/C] AGGCAGCAGCAGCAGTTTTCATCTC	M	201
rs115268914	CTCTCTCGCCTAGGCTGGAGTGCAGC [A/G] GCATGATCTTGACTTACTGCAATCT	R	201
rs114008162	GGATGTCTAGGAGCCTGAATCTCAGC [A/G] TTGGAAGCCCAGTTCTGATGTAATT	R	201
rs79985915	CTATAGGTAAGACTTGCCCTAATCTT [C/T] TTTTTTTTTTTTTTTTTGACTTGCC	Y	201
rs77667400	CTGCCGCTTTCCACTTGTGTAGCCTT [G/T] GCCAACGGACTGCACTTCTCTGGAT	K	201
rs55940366	GCTGTGGCAGAGAACCAGCCCTTCCT [C/T] ATCGAGGCCATGACCTACAGGTGCC	Y	201
rs114160048	GAGGGGGCATTTAGGGGGCATTTGAG [C/T] TAAAGGTAATAGGGTTTCCACAAGG	Y	201
rs78664582	GCTCTATAGGTAAGACTTGCCCTAAT [C/T] TTTTTTTTTTTTTTTTTTTTGACTT	Y	201
rs78994114	AGTCCCGCAGGAAGGTGAGGGTGCCC [C/T] GCCCGGGAGGGTGTGCTGGGGGCTG	Y	201
rs112312448	GGGCTGTGGCAGAGAACCAGCCCTTC [-/C] TCATCGAGGCCATGACCTACAGGTG	N	201
rs117961146	CCGCCTCTCCACCAGCCTGTGAGGTG [A/G] ATGCCATCCCCACGAGGGCACGCAG	R	201
rs2241710	GGCACCCCAGTGTGCTCCACATACTG [C/G] AGCTGGGTCTCGGCTGTACCCTCCT	S	201
rs114459633	GGCGTAAGCCACTGCCCAGCATCCCC [A/C] CCTTTTTTTTTTTTTTTTTAAATTT	M	201
rs113901068	CGAGTTCAAGCAATTCTCCTGCCTCA [A/G] CCTCCCTAGTAGCTGGGATTACAGG	R	201
rs117950460	GAGAAATGTATTAATAATACTTTAGT [C/T] CCGGCAGTTGCTGCCTGCGGGAGAT	Y	201
rs115971313	CCGTGGGTCATGTGAGTGTGAATGAG [C/T] GTGAGTGCATGTGAGTCTCCGCCCC	Y	201
rs117379765	ACGGGAAAGCCAGGCCTGGGAACACA [G/T] GGAGGAGGGCACCGCCGAGCCGCGA	K	201
rs114198932	TTCCTTTTCTCTTCTCTTTTCTCTCT [C/G] TCTTTCTTTCTGTACCTCTCTTTCC	S	201
rs115211514	GAAGCGTATGTAGCAGTTTGCCAGGC [A/G] ATAGGGAAAGAGACCTTCTTGTAAA	R	201
rs75023451	AGAGCGGGCAGGTTGTGCTTTCCTGC [A/G] TGGTGGGAGAGGACGTGGCATGAAG	R	201
rs78727437	GTCTGTGCTCCAGACTTCTTCTTCTT [A/G] TTTTTTTCTTTTTTGAGACGGAGTC	R	201
rs79568656	TCACAGGCTGCATAGGGCCTTGTATT [C/T] CTTTGCTCCTTTGCCACAATTCTGA	Y	201
rs77623540	TCCTGCCAGAGCTGCGGCAGGTGCTT [C/T] CCCCGCCTCTCCACCAGCCTGTGAG	Y	201
rs62637712	CTCCTCTGCTCTCTTCCCCAGCACCC [C/G/T] CCCAGGCAGCAGCAGCAGTTTTCAT	B	201
rs111950596	AGGAGTTTGATACCAGCCTGGGCAAC [A/G] TGGCGAGACCCCCATCTCTAAAAAA	R	201
rs78673509	AAATAGACAGGTTTGCTTCAGTCCGG [A/G] ATGCAAGGACCTAGAGGGTGTGTGT	R	201
rs117030761	GGCCCCACATGCTCTAGGAGGGCAAA [C/T] GCCCTGTGGTGTTTGTCTAAGGTCT	Y	201
rs116993920	CAGGCTAGAGTGCTATGGCGCAATCT [C/T] GGCTCACTGCAACCCCCACCTCCCG	Y	201
rs114278248	GCTACCAGTTATTGACTTGCCAGCCA [C/T] TTGATTGAGTCATTTAACCTCACAA	Y	201
rs75557216	CCAGGCCTGAATCTGCCCTGCCATTG [C/G] GAGTGTAATTTCCTCACGACTACAA	S	201
rs116948250	ACTCTAGCCAAAGTGAGATCCTGTCT [A/C] AAAAAAAAAAAAAAGGAAATTGAAG	M	201
rs75840909	GGGTGGGGGTGCAGATGGTGCAGGTT [G/T] GGTGGGGCCTCAAGGCCTTTGCCTG	K	201
rs78924883	CAGTATCTGTTTAACAAGAACAATCA [C/T] GAGAAATACTTACTCACTACTTGTG	Y	201
rs117989172	TCTTTAAAAATTTTTTCTTTTTTTTT [C/T] CCTTGAGACAGGTCTTACTTTGTCA	Y	201
rs113649978	TTCTATTTTTAGTGGGTACAGGGTTT [C/T] GCCATGTTGGCCACATTGATCTCGA	Y	201
rs79245900	TAGCCCAGATTGGAGTGCAGTGGCAC [G/T] ATCTCAGCTGCCTGCAGCCTTGAAC	K	201
rs117069153	TTTGTTTGATTCCTGTGTCTCTTGAT [C/T] GAATATCAAGACAGAGAATTCGTGT	Y	201
rs113934297	CTAGGATTACAGGCGTAAGCCACTGC [-/CCAGCAT] CCAGCATCCCCACCTTTTTTTTTTT	N	201
rs76070674	TTTCAAACTACATCCAGAATCTCATC [A/C] CCTCCACTACTCCTGCTCTGGCTGG	M	201
rs77949523	TTTTTTGTGTGTGTGGCAGGGTCTCT [A/G] TTGCCCAGGCTGGGATGTGTTGGTG	R	201
rs117817570	GTGCAGTGGCACGATCTCAGCTGCCT [A/G] CAGCCTTGAACTTCTGGGCTGAAGC	R	201
rs114502373	TGTCCTGTCCCTGCCCTTCTCTGTGC [A/C] TCAGTTTCCTCATTGCTTAGCTGTC	M	201
rs2288870	CCTTTAGCTCAAATGCCCCCTAAATG [C/T] CCCCTCCTCTGAGAAAGCTTCCCTG	Y	201
rs10404506	ATCTCCTCTCCACTGGCCACGCAGAT [C/T] CCTCAGGGTGAGGATGCATGCCCTG	Y	201
rs113733825	TGAGCATTTATAGGCTTCTCACAGGT [-/CTC] CTGGGCTTTCTCAGCCATTCCTCAT	N	201
rs115015681	ATACCTGTATGAGCACTTTGGGAGGA [C/G] GATTGCTTGAGCCCAGGAGTTCAAG	S	201
rs114481527	CTCACTATGTTGCCTAGGCTGATCTC [A/G] AACCACTGGCCTTAAGTGATCCTCC	R	201
rs112156740	TCTGCCCCTCCTCTCATTCTCAGAGA [C/T] AGTTACAAAGATGGAACTATCTTCT	Y	201
rs74586298	ACACTGACCTGGGGCCCCTTGCCCCT [A/G] TGCAGGATCGGGCACCACAGCACCA	R	201
rs11671704	TGTGCTGAGCACTGCACCTGTTTTTG [C/T] TGAAGGGTTCTCTTGTGAGGGCACC	Y	201
rs117396977	CCCCCTCTTCACCTGTTGTTACAGTG [C/T] CTTCTCCCAGGGGCTGGGTGAGGGC	Y	201
rs117196001	TATTATATTTAATACACCAATAGTGC [A/G] AGGCCTTTATTGGTAGTACTCTCCT	R	201
rs79740365	CTGTTTCTATCTGTTACATATGCAGC [A/C] CAGCCACATCTTGTGTGGATTTGTA	M	201
rs114320868	GTGAAAGATCCACCCCCATAATTCAA [A/T] TACCTCCCACTGGCTCCTTCCCACA	W	201
rs114191970	CTTTGCCTGTTACAGGAGTAACTACA [A/G] TGAGGCGATTGGAGAAAATTTTGGG	R	201
rs114178789	GAACTGTCCCCCTGTACTGCCCACTC [A/G] GCTAACCATTGCCTCCTCCCCTCCT	R	201
rs116710207	ATTTGCTCTTGTTCCTGTTTTCAAGA [A/G] CAGGATGCCCGTGTTTTGTGTGTGT	R	201
rs115062082	TTTTGTAGAGATGTGATCTCAGGCTG [A/G] TCTTGAACTCCTGGGCTCACCTGGG	R	201
rs10421626	GAAGCCCCTCTGGGCATGGGGTGGAC [A/G] TGGCAGGTCAGCCTGTGGAACTTGC	R	201
rs115313500	ATGGTGCAGGGTTTTTGTTTTGTTTT [G/T] TTTTTTGTTTTTTCGAGGTGGAGTT	K	201
rs115280847	ACTTATTCAGTATAATGAGAACAGCA [C/T] GTGAAAGATCCACCCCCATAATTCA	Y	201
rs112907023	TTTTTCAGAGACGAGGGTTTTGCCTA [A/G] GCTGGACTCACTATGTTGCCTAGGC	R	201
rs75551567	GCCGCTTTCCACTTGTGTAGCCTTGG [C/G] CAACGGACTGCACTTCTCTGGATCT	S	201
rs284648	CTAGATCAGGCTACAGGCCCCGGAGG [A/G] CAGGAAGGGGCTCCGATTCCTTGTT	R	201
rs118080024	ATATTTCTTTTTTTTTTTTTTTTTTA [C/T] TTTTGAGATGGAGTTTTGCTCTTGT	Y	201
rs116309564	CATCTCTGCGCCTGGCTCTCTACCAC [C/T] TCTGGTCTTTGTTTCCTGGAGTTTG	Y	201
rs79955062	GGATTTGTATTATGTCCATTCAAAAG [C/T] ATGTGTCAGAAAATACCAGTAAACC	Y	201
rs116023298	GAAAGAAGAGAACAGGTCCCTGTCAC [A/C] GGCTGCATAGGGCCTTGTATTTCTT	M	201
rs117607126	CGCCTGGCTAATTTTTGTATTTTTGG [C/T] AGGGACGAGGTTTCACCATGTTGTC	Y	201
rs115930134	TATAGGGATCAGAAGAGAGCTGGTCT [A/G] TATGCCTAGAGGGCATCCTGCAGTG	R	201
rs116221568	TAATAGGGTTTCCACAAGGCTGGGGC [A/G] TGGCCCTAACCTTCCCTCTGGGTCC	R	201
rs114587707	AGCCCCGAATCTAGCCTACGTGAGTG [C/G] CGGACCGCTGAGTGGTTGTTAGCCA	S	201
rs117815282	AGGCGTAAGCCACTGCCCAGCATCCC [C/T] ACCTTTTTTTTTTTTTTTTTAAATT	Y	201
rs111259136	GCGCCGGGCTGGGCCATCCTCCTGGG [C/T] GTCCGCACGTGGCTTAGCGTTTACC	Y	201
rs75448330	TCCACCTGCTTGCCCACACCAGAAAC [C/G] TCATCTCATCCCTGTCTCCTCCCTC	S	201
rs115695485	CCAGGCTTTCTTCTCTTGCCTTGGAG [C/T] CTTGGTTTTTCCCTAGGACTGAAGT	Y	201
rs13343330	CGAGGCCATGACCTACAGGTGCCTGC [C/T] GCTCCCCCCGTCAGCACCCCCACAG	Y	201
rs112835313	CCAGCTAATTTTTTTTTTTTTTTTTA [G/T] ATAGAGTCTCACTCTTGTCACCCAG	K	201
rs111992248	CTCTATAGGTAAGACTTGCCCTAATC [-/TTTT] TTTTTTTTTTTTTTTTGACTTGCCC	N	201
rs115099615	TCCCTTTGAGCATTTATAGGCTTCTC [A/G] CAGGTCTCCTGGGCTTTCTCAGCCA	R	201
rs10407077	TCCACTCCTCCTTCCCTAGTTCATCC [C/T] CCATCCTCCCTCCTGACCCCCACTC	Y	201
rs77637491	TCCTGTTTCTATCTGTTACATATGCA [C/G] CACAGCCACATCTTGTGTGGATTTG	S	201
rs115611992	GGGGGACTCAACTCTTTGCTCTGTTT [C/G] AGGGCAGAGTGCCTTTGAGCTCAGG	S	201
rs78878158	CTCTAAAATACTCAGCGGCCAGGGCG [C/G] CTGCCACTCTTCACCCCTGCTCCTC	S	201
rs10410801	ATCCAGTCAAGCCAGTGTCAACAAAG [A/C] GGGAAGTTATTGACTCCAATGACCA	M	201
rs114054661	TTGGCCTCCAAAAGCATGAGCCACTG [C/T] GCCTAGCCTTTTCTTTTTTTGAGAC	Y	201
rs114855860	AGGTGGATGCCATCCCCACGAGGGCA [C/T] GCAGGTTCACAGAGACTGGCTCCTG	Y	201
rs78460242	TAATGTTTTGATTTTTTTTTTTTTTT [G/T] TAGAAGCGAGGCCTCACCATGTTGC	K	201
rs117138963	TTTCACCTCCCTTCCTGTCTCTGTTA [A/T] CATAGCAGACGTTTTAGTGCTCAGG	W	201
rs117316804	AAATACACGAAGTTCCTGCCATGTGC [C/T] GGTGCCACTCCAAGTGCAGGGAACA	Y	201
rs9710116	GTCTGGCACTTGGTCAGCCACAGGAG [C/T] TGAGGTCCTGAGCACTCAGCCTTGC	Y	201
rs75381316	CCTAGTATCAGGGACAAGGATCCAGT [A/C] AAGCCAGTGTCAACAAAGAGGGAAG	M	201
rs11671665	AAGATTTCCAGACACCAGGCAGCAAG [C/T] TGGGCCCCCGCCAGCTGTGCTGAGC	Y	201
rs118107394	ATGGACCAGAGGATGTGAGGGGGGAG [A/C] TGTGTGGTGTCTTGAGGCAGGTGTG	M	201
rs78570624	CGAACTCCTGACCTCAAGTGAGATTC [C/G] CCTGCCTCTGCCTCCTAAAGGCAGT	S	201
rs75018879	CCAGTGGTGTTGCCTCATTGAGGCAC [C/G] TCCCCCATCCATGTGAGGCAGGAGA	S	201
rs75757179	AGAGATGCAGTGAGGTAGCGGTGGGG [A/G] TGTATTTCTCAACCCAGCGCAATGA	R	201
rs78812877	GAGTGGTTAATTCCTTGCCAAGGCCC [C/T] GCAGGAGGAAGCAGGGTCCTGCATG	Y	201
rs116080069	CTGTCTCTGCCTTCCTGGGATTGTGG [C/T] GTGTGTGGGAGACAGACACGAAACA	Y	201
rs76383353	CGCTAGAACTGTGGACAGCTTGTTCA [C/T] TGCAGTTAAAGGAAGACGGAGGGAC	Y	201
rs7258787	TGTAGTCCAGAAGTTGTAAATTAGTG [G/T] TCTATGCTGTTATTTGGTTCATAAT	K	201
rs16975216	CCTAGCTAGTGGGGTGAATAGAGTCC [A/C] TACCCTGTTGGAAGTCAGGAAGCCC	M	201
rs75452443	GTTAGGGGATTTGGGAGAAGGGAACT [G/T] GGCACTGGTGTGGCCAGCTGACAGG	K	201
rs74512011	GCAAGGGAGGCCAGGGACCTGAGTGC [G/T] TGTCTTTTTGAGGCTCAGGTTAGGG	K	201
rs112502758	TGGTGCAGGGTTTTTGTTTTGTTTTG [-/T] TTTTTTGTTTTTTCGAGGTGGAGTT	N	201
rs78812076	GAGGGTGGAGGGAAGGGACAGAAACT [A/G] ACCTTGGAGATGGGGAGAAGAAAGG	R	201
rs75694368	CCCCTGATAAATCCTAGTATCAGGGA [A/C] AAGGATCCAGTCAAGCCAGTGTCAA	M	201
rs114910270	CTAATCTGCACGCCTTTCCCTTCTCA [C/T] GAGATATTCTGGGAAGGGGGACTCA	Y	201
rs284650	CACTTCAAATACACGAAGTTCCTGCC [A/G] TGTGCCGGTGCCACTCCAAGTGCAG	R	208
rs57341563	GTGGGGCAGGAGGTGGGCAGGACTGG [A/G] GCAGGCTAGGGAAAGGTCATTTATG	R	223
rs55748223	TCACTTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG	N	223
rs4802116	TGTTTTTTCCCCTTTATTTCTCCCAC [C/T] TGTTCTTTctctcttcttctttctt	Y	226
rs56189158	AACTCTTTGCTCTGTTTGAGGGCAGA [A/G] TGCCTTTGAGCTCAGGAGAGAGTGG	R	247
rs10426536	tatcactttgttgcccaggctggagt [A/G] caatggtgcagtcatggctcactgc	R	250
rs111855817	TGCCCTCCTGCTGCTGCGGCAGCCTG [A/G] GGCTCGGGGACTGGCTAGATCTGTG	R	251
rs3810175	TGTCTCTTGATCGAATATCAAGACAG [A/G] GAATTCGTGTGTTCTGGACACTGTA	R	251
rs3810174	AGGCTCCTTGGAGGAACAGGGGAAGA [C/T] CGCAAGACCTTCTCCCTCAGGGTTT	Y	251
rs71334984	TTTTGAGATGGAGTCTCGCTCTGTTG [-/C] CCCAGGCTGGAGTGCAGTGGCGCGA	N	251
rs76230844	TTTTTTGACTTGCCCTAATCTTAGGG [A/G] TATTTACTTGTGTGGAGAGATGCAG	R	251
rs28940288	ACTTCGGCGAGGGGGCAGCCAGTGAG [A/G] GGGACGCCCATGCCGGCTTCAACTT	R	251
rs60715253	GGGCCTGTAGCCTGATCTAGGGTTGG [C/T] CTGGGCCCTGGCTTCTTTGCCCTAG	Y	251
rs111705372	GCACTGGTCCTCACCGATGCCCTTCC [A/G] TGGTGGAACAGGTGCTTCCTTTGGG	R	251
rs113111906	TTTTTTTTTTTTTTTTTTTTTTTTTT [C/T] TTGGTCTGAGACGGGGTTTCACTCT	Y	251
rs62117494	CATGGGGTTTCACCATGTTGGCCAGG [A/C] TGGTCTCAGCCTCCCGAAGTGTTGG	M	251
rs62117493	AGACAGCATGTTGCTCTGTTGCCCAG [A/G] CTGGAGTGCAGTGGTGTGATCATGG	R	251
rs62117495	TTTGTAGCCCAGATTGGAGTGCAGTG [A/G] CACGATCTCAGCTGCCTGCAGCCTT	R	251
rs73931473	TTCTGATTTTAAAATGAATTGTGTAA [A/G] AAATTTGTTTGATTCCTGTGTCTCT	R	251
rs73931479	CCCCTACCTGTGTTTGGGCCAAAGGA [A/G] TGGCTCCCAAGGAGGACAGATTCTT	R	251
rs73931475	AGGTGAGGTCTGAACTTGGAGCTCTG [C/G] ACTCCAAAACCCAGTTTCTTTTCAT	S	251
rs73931477	AGACTCTGGCCTCCCCTCTTAGTGCC [C/T] GTCTGAAGACTTCAGCCTTCGGTCC	Y	251
rs137852872	GCCCAAACCCAACCCCAACCTACTCT [G/T] CTCAGACGTGTATCAGGAGATGCCC	K	251
rs137852873	TTGAGTGCCCCATCATCTTCTTCTGC [C/T] GGAACAATGGCTACGCCATCTCCAC	Y	251
rs137852870	GCCACCTGCAGACCTACGGGGAGCAC [A/T] ACCCACTGGATCACTTCGATAAGTG	W	251
rs137852871	GTGTCCCCACAGCAGCACGAGGCCCC [A/G] GGTATGGCATCATGTCAATCCGCGT	R	251
rs137852876	CTTGAGTGCCCCATCATCTTCTTCTG [C/G] CGGAACAATGGCTACGCCATCTCCA	S	251
rs137852874	CAGCCAGTGAGGGGGACGCCCATGCC [A/G] GCTTCAACTTCGCTGCCACACTTGA	R	251
rs137852875	TGATGTGTTTGCCGTATACAACGCCA [C/G] AAAGGAGGCCCGACGGCGGGCTGTG	S	251
rs71181107	TCATAATGATGATTTTTTTTTTTTTT [-/T] CGAGACAGGGTCTTGCTTTGTAGCC	N	251
rs7257117	AGCCAAGCCAGCCGGGTGTGGTGCAC [C/T] GTAGGGGTGGCTGGGGTCCGTCACT	Y	251
rs71181106	TTTTTTGTATTTTTAGTAGAGGCGGG [-/G] TTTCACCATGTTAGCCAGGATGGTC	N	251
rs71181108	CTCCTGACCCCCACTCCAGGGAGCCC [-/C] ACACTGACCTGGGGCCCCTTGCCCC	N	251
rs71181105	AGGGTTTTTGTTTTGTTTTGTTTTTT [-/T] GTTTTTTCGAGGTGGAGTTTTGCTC	N	251
rs3786553	CCTCCACCCTCCCACCCCCACCCCCC [A/C] CACACACACCCTCTAGGTCCTTGCA	M	251
rs11879090	GTGCTTCCTGGAGTGCTCCAGGGGAC [C/T] GCCCTAGGCCCATGTGAAATGGGCT	Y	251
rs8108664	TTGAGGCGGCGCCTCAGCTACCACCT [A/G] TCTTTGATGGAGTTATGATAACAGT	R	251
rs112381655	GCGCCGAGCCCACGTGCGGCTGCAGT [A/T] GTCACTTCCGCCTGGCAGCGCGCGC	W	251
rs61737367	TCCACGCCCACCTCTGAGCAGTATCG [C/T] GGCGATGGCATTGGTATGGGCTCTG	Y	251
rs59777247	CATTGAATACCCTGCTGCCCTGCAGA [C/T] GTGTTTGCCTGATTTTCACCTCCCT	Y	251
rs73047262	TTTTCTCTCTCTCTTTCTTTCTGTAC [C/T] TCTCTTTCCTTTTTCTTTTTTTTTC	Y	251
rs112929552	CCGCTTTCCACTTGTGTAGCCTTGGC [A/C] AACGGACTGCACTTCTCTGGATCTA	M	251
rs111838742	CAGAGCAAGACTATCTCTTAAAAAAA [A/G] AAAAAAGCTGGTTTGAGGATTAGGT	R	251
rs73931480	CAGGGTTAGGACTCTGGAGGGGGCAG [A/T] CTTCCCACTCTGAAGGCCAGAAAGT	W	251
rs73931484	GCAGACAGGATGGGGGTGGGGGGGTC [C/T] TCCAGAGATGGTCTCCTGCTCTCTC	Y	251
rs73931482	CTAGTAAGGAGGCTGCTCAGTAACTT [C/G] GGCTTGACCAGGGTGGTGCAGAGGA	S	251
rs73931483	CTGGTTCTCGTCCTGTGTCCTGTGGC [A/G] TCTGGCACTTGGTCAGCCACAGGAG	R	251
rs10425437	gctttgtagcccagattggagtgcag [C/T] ggcacgatctcagctgcctgcagcc	Y	255
rs17173144	TTGTTAGCCAAGATGGCGGTAGCGAT [C/T] GCTGCAGCGAGGGTCTGGCGGCTAA	Y	260
rs2241711	ATTCAGTGAGCTATGCAAAGGGCTCC [A/G] CGCTGTGCCTGGTCCTGAGGAAATG	R	268
rs11672345	AGAGACTGGCTCCTGTCCAAGGCCGC [A/G] TGGCTGGAAAGAGACAGAACCAGAT	R	282
rs10413735	GTCTACTGCTCACAGCTGGACCAGGC [C/T] CTTGGCCCCACATGCTCTAGGAGGG	Y	301
rs34956071	TAGGTGTGCTGATGTATCGGGACTAC [C/T] CCCTGGAACTATTCATGGCCCAGTG	Y	301
rs3213861	TAGAAGGAGATCCGGCCCTGGGGGTG [G/T] AGAGGGGACCGGGGTCCCACAATTG	K	301
rs3213860	GGGAAGACTGCCCCCTCCAGAGTCCT [A/G] ACCCTGGCTTGTCTCTTTCTTGCTT	R	301
rs35521052	TCAGCGGCAGGTGCGTGGGGACAGGA [-/C] TAGGGGCGGGGGGCTGGAATTACCT	N	301
rs35085046	GGGCAACGAGAGCAAGACTCCATCTC [-/A] AAAAAAAAAAATTAGCCAGGCGTGG	N	301
rs35214178	GGCTGCCTAGCTCCAGAGCTAAGAGT [-/C] CCCAGTGGGTTCATATCCCTTTGAG	N	301
rs35024134	CAACCTCCTGAGTAGCTGGGACTATA [-/G] GGTGCGTGCCACCACGCCTGGCTAA	N	301
rs34589432	CCTCTGCTCTCTTCCCCAGCACCCCC [A/C] CAGGCAGCAGCAGCAGTTTTCATCT	M	301
rs34978824	GTCCCTTCCCTTATAAGAGCTTTTTT [-/G] GGGAAGCAAACCCACTGGGTGCCAG	N	301
rs35487663	GCGTGGCCCTAACCTTCCCTCTGGGT [-/C] CCCTGCTAAGTCACTTCAAATACAC	N	301
rs3217386	CTTCCCTCTACTTCCTGCCTGGAAGA [-/G] CCCCCTGGATCTAGCTGTGCCCCAA	N	301
rs3217385	GGCAAGGGGCCCCAGGTCAGTGTGGG [-/G] CTCCCTGGAGTGGGGGTCAGGAGGG	N	301
rs12983789	TCCTAACTCTGGCAACGCCATTGGAC [A/T] TTTGGGAACAGAAGGCAGGCCTTGG	W	301
rs34500671	TCTGGCCGCGACAGCAGGTTCTGTTC [C/G] CAGGCAAAGTGCCGGAGGCTGCAGC	S	301
rs34492894	GTGTATCAGGAGATGCCCGCCCAGCT [C/T] CGCAAGCAGCAGGAGTCTCTGGCCC	Y	301
rs36050387	GGGTCCTCCAGAGATGGTCTCCTGCT [-/G] CTCTCACAGAATGGGAGAAGCCTGC	N	301
rs284654	CAGTGATCGATATGAGGAAGATGCTA [C/T] GGTGGCTGTCAGTGCTGTGGGGGTG	Y	301
rs284655	GGGGAGATGCAACATCAGGTGATAAG [A/G] CCATGTTTTGGAGACAGTGATCGAT	R	301
rs284652	CACCTGTAGGTCATGGCCTCGATGAG [A/G] AAGGGCTGGTTCTCTGCCACAGCCC	R	301
rs284653	CTATGGTGGCTGTCAGTGCTGTGGGG [A/G] TGCTGACGGGGGGAGCGGCAGGCAC	R	301
rs4674	ATCTCCTGATACACGTCTGAGAAGAG [C/T] AGGTTGGGGTTGGGTTTGGGCTTCC	Y	301
rs6508977	CTGGATGCCTTATGGGTTCAGTGAGC [A/G] CATAGGTGTAAATAAAGTGCTTTGA	R	301
rs34391204	AAATTTTTCAGAGACGGGGGTTTTGC [C/T] TAGGCTGGACTCACTATGTTGCCTA	Y	301
rs284649	ATGCATCTCAGCTGCCCTAGGGCAAA [A/G] AAGCCAGGGCCCAGACCAACCCTAG	R	301
rs34541442	TAGCGATCGCTGCAGCGAGGGTCTGG [A/C] GGCTAAACCGTGGTTTGAGCCAGGC	M	301
rs34933875	ACAGGCGTGAGCCACCATGCCTGGCC [-/T] TTTTTTTTTTTTTTTGAGGTGGAGT	N	301
rs12459859	ACTTTAGTCCCGGCAGTTGCTGCCTG [C/T] GGGAGATTGAGACCTCTGTTAACAG	Y	301
rs34919809	TTGTGTGTTCAGTGTTTGTCATTCAT [-/C] CCCTCCCTGTCTCTAGCCTTCAGTT	N	301
rs10409485	CGAGCACTGATAGGGCCAGGAAGGCA [C/T] ATCTTAACCCTTTGTCTTAGATGCT	Y	301
rs10853751	TGGGCTCGGCGCGATGGAGGAGGAGA [C/T] GCATACTGACGCCAAAATCCGTGCT	Y	301
rs34107638	CCTCTGGGTCCCTGCTAAGTCACTTC [-/A] AAATACACGAAGTTCCTGCCGTGTG	N	301
rs35547143	TTATCTTCAATTTGAGGAGTATTTAC [-/T] GTGGGTGAAAGATCCGCCACAGTCC	N	301
rs34169026	GGCCGCGACAGCAGGTTCTGTTCGCA [A/G] GCAAAGTGCCGGAGGCTGCAGCCAG	R	301
rs34442879	GGGGAGTGCCGCCGCCCTGGACAACA [C/T] GGACCTGGTGTTTGGCCAGTACCGG	Y	301
rs4803465	ggcgtgctcctttgcctcacctagtc [C/T] gtttctcagtgaagagcaccaccat	Y	303
rs2241706	tagtgagtccagcctaggcaaaaccc [C/T] cgtctctgaaaaatttttaaattag	Y	320
rs10408639	gaagcctcacaaacatggcggaaggc [A/G] aatgaggagcaaagtcacatcttac	R	328
rs13346233	GCCCCACATGCTCTAGGAGGGCAAAC [A/G] CCCTGTGGTGTTTGTCTAAGGTCTA	R	337
rs10414106	ACTGTCTACTGCTCACAGCTGGACCA [A/G] GCCCTTGGCCCCACATGCTCTAGGA	R	337
rs284658	ACGGGCCCTGGGTCCTAATGACCGGG [C/T] CAGGGAGGGTGGCACACTGACTCTG	Y	344
rs11670583	ACGTTCGCTGTGGGTGTGGCCTGTGC [A/T] GGAGACCCTGTCTGCCTGGTGCAGT	W	349
rs59991538	ACAGACCTGAGTGCGGTGCAAGATTA [C/G] AGGGGCCCGGCAAGCCCAGATGAGT	S	349
rs11670668	TGTGGCCTGTGCAGGAGACCCTGTCT [C/G] CCTGGTGCAGTGATCCCCTGGCCCC	S	349
rs58786677	CATACAAAAATTAGCTTGGCATGGTG [A/G] TGCACACCTGTAATCCTAGCTACTC	R	350
rs1967333	aaaaaaaaattagccaggtgtggtgg [C/T] gtgcacctgtggtcccagctattca	Y	354
rs2241707	ccaggaaggctgggcgtggtggctca [C/T] gcctgtaatcccagcactttgggag	Y	370
rs12982607	CCTGTAATCCCAGCACTTCGGGAGGC [C/T] GAGGCGGGAGGATTGCTTGAGCCCA	Y	384
rs57372161	GTAATCCCAGCACTTCGGGAGGCTGA [G/T] GCGGGAGGATTGCTTGAGCCCAGGA	K	387
rs3061207	TCTGATGTAAtttttttttttttttt [-/TTTT] tttgagacagggtctcactttgtcc	N	388
rs10424533	tgttttgatttttttttttttttgta [A/G] aagcgaggcctcaccatgttgctca	R	390
rs2288871	CATGTGTTCCCAGGCCTGGCTTTCCC [A/G] TTGCTGTGGGGGAAACTGATGAATG	R	394
rs10418291	CTCATTCCCTCTGTCTGTAGATAttt [C/T] ttttttttttttttttttacttttg	Y	397
rs67617298	GCGTGCCACCACGCCTGGCTAATTTT [-/T] GTATTTTTAGTAGAGATGGGGTTTC	N	401
rs35668703	GAGCAAGACTCCATCTCAAAAAAAAA [-/A] AATTAGCCAGGCGTGGTGGTGCGTG	N	401
rs11300069	AAGTGAGATCCTGTCTCAAAAAAAAA [-/A] AAAAGGAAATTGAAGTCAAAGAGGG	N	401
rs72026304	CGTTTAAGCCATTGTGCCCAGCCCAC [-/TTTTTTTTTTTTTTTTTTTTTTTT] TTTTTTTTTGGTCTGAGACGGGGTT	N	401
rs66703155	TTGGGGCACAGCTAGATCCAGGGGGT [-/C] CTTCCAGGCAGGAAGTAGAGGGAAG	N	401
rs72108665	CAAGCCAGACTCTGTCTCAAAAAAAA [-/AAA] AAAAAAAAAAAAAAGGTAACTGCTG	N	401
rs67015245	GATGTAATTTTTTTTTTTTTTTTTTT [-/TTTT] GAGACAGGGTCTCACTTTGTCCCCC	N	401
rs72119198	GATATTTCTTTTTTTTTTTTTTTTTT [(LARGEDELETION)/-] TTTTTTTTTTTTTTTTTTTTTTTTT	N	401
rs16980932	ATTGGAGAAAATTTTGGGTAGATAGA [-/T] TTTTTTTTCTCCAAATCTCTGTGCA	N	401
rs66596854	CAGGCGTAAGCCACTGCCCAGCATCC [-/AGCATCC] CCACCTTTTTTTTTTTTTTTTTAAA	N	401
rs67557049	GGAGACCTTTTCACTTTTTTTTTTTT [-/T] TTTTTTTTTGAGCAGTTCATATCCT	N	401
rs66801847	CATAATGATGATTTTTTTTTTTTTTC [-/T] GAGACAGGGTCTTGCTTTGTAGCCC	N	401
rs10709558	ccgctttccacttgtgtagccttggc [-/C] aacggactgcacttctctggatcta	N	401
rs892044	GTAGGCTAGATTCGGGGCTGCCTCTT [C/T] ATGTGCCTGACGCAAACTCCAGCAC	Y	401
rs3214612	CCTCAAGACACCACACAGCTCCCCCC [-/C] TCACATCCTCTGGTCCATACTTCAG	N	401
rs3214613	TAGATCCAGAGAAGTGCAGTCCGTTG [-/G] CCAAGGCTACACAAGTGGAAAGCGG	N	401
rs72405314	TCCTGACCCCCACTCCAGGGAGCCCA [-/C] CACTGACCTGGGGCCCCTTGCCCCT	N	401
rs66828714	GTTATTTGGTTCATAATGATGATTTT [-/T] TTTTTTTTTTCGAGACAGGGTCTTG	N	401
rs72095217	AGCCAAAGTGAGATCCTGTCTCAAAA [-/A] AAAAAAAAAGGAAATTGAAGTCAAA	N	401
rs72343230	AGCCCAGTTCTGATGTAATTTTTTTT [-/TTTT] TTTTTTTTTTTGAGACAGGGTCTCA	N	401
rs34447852	TGTGTGAGAGACAGCAAGTGAATGGG [-/A] AAAAAAAAAGTGCAGGAGCCTGGCC	N	401
rs67530835	TAGGATTACAGGCGTAAGCCACTGCC [-/AT/CCAGCAT] CAGCATCCCCACCTTTTTTTTTTTT	N	401
rs11437195	TGGTGGGTGGGGGTGCAGATGGTGCA [-/G] GGTTGGGTGGGGCCTCAAGGCCTTT	N	401
rs67031414	GCAAGACTCCATCTCAAAAAAAAAAA [-/A] TTAGCCAGGCGTGGTGGTGCGTGCC	N	401
rs66865572	CAAGACTCCATCTCAAAAAAAAAAAT [-/A] TAGCCAGGCGTGGTGGTGCGTGCCT	N	401
rs5828106	taattttttgtatttttagtagaggc [-/G] gggtttcaccatgttagccaggatg	N	401
rs11307062	CTCTAGCCAAAGTGAGATCCTGTCTC [-/A] AAAAAAAAAAAAAGGAAATTGAAGT	N	401
rs5828107	agagcaagactccatctcaaaaaaaa [-/A] aaattagccaggcgtggtggtgcgt	N	401
rs71960526	TGTCTGTAGATATTTCTTTTTTTTTT [-/TTTTT] TTTTTTTTACTTTTGAGATGGAGTT	N	401
rs11313402	TGCCTTTGGGCTGGAGACCTTTTCAC [-/T] TTTTTTTTTTTTTTTTTTTTTGAGC	N	401
rs892043	TCACGTAGGCTAGATTCGGGGCTGCC [C/T] CTTTATGTGCCTGACGCAAACTCCA	Y	401
rs10565264	tcaccctctaagggattttttttttt [-/TTT] tttttttttgagatggagtctcact	N	401
rs284651	GAGGGTAGGGGTGGCAGGAAGGTGGC [A/G] GGATTGGGGAGGGAAGGAGATGATC	R	401
rs66838098	TCTCAAAAAAAAAAAAAAAAAAAAAA [-/AAA] GGTAACTGCTGTGTGTAATGTGATC	N	401
rs33988947	AATTTTTTGTATTTTTAGTAGAGGCG [-/G] GGTTTCACCATGTTAGCCAGGATGG	N	401
rs67118441	GCCCAGTTCTGATGTAATTTTTTTTT [-/TTTT] TTTTTTTTTTGAGACAGGGTCTCAC	N	401
rs67456786	CCCTCCTGACCCCCACTCCAGGGAGC [-/C] CCACACTGACCTGGGGCCCCTTGCC	N	401
rs72316851	ATATTTCTTTTTTTTTTTTTTTTTTA [-/TTTTTTTTTTTTTTTTTTTT] CTTTTGAGATGGAGTTTTGCTCTTG	N	401
rs67742179	CCAAAGTGCTGGGGTTACAGGCGTGA [-/G] CCACCATGTGTGGCCGGGCAGGTGA	N	401
rs66601221	TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT/TTTTTT] GACTTGCCCTAATCTTAGGGATATT	N	401
rs67955137	GGTGGGTGGGGGTGCAGATGGTGCAG [-/G] GTTGGGTGGGGCCTCAAGGCCTTTG	N	401
rs71922487	CCCAGTTCTGATGTAATTTTTTTTTT [-/TTTT] TTTTTTTTTGAGACAGGGTCTCACT	N	401
rs10712417	AAATTTTGGGTAGATAGATTTTTTTT [-/AAACA/T] CTCCAAATCTCTGTGCATTCTATCT	N	401
rs72299612	GGGCAACAAGAGCAAAACTCCGTCTC [-/A] AAAAAAAAAAAAGAAAGAAAATTAG	N	401
rs45500792	AGAGGCAGCCCCGAATCTAGCCTACG [G/T] GAGTGCCGGACCGCTGAGTGGTTGT	K	401
rs72449807	GGTGCGTGCCACCACGCCTGGCTAAT [-/T] TTTTGTATTTTTAGTAGAGATGGGG	N	401
rs72428261	TATGGACCAGAGGATGTGAGGGGGGA [-/G] GCTGTGTGGTGTCTTGAGGCAGGTG	N	401
rs71866052	AGCCAGACTCTGTCTCAAAAAAAAAA [-/AA] AAAAAAAAAAAAAGGTAACTGCTGT	N	401
rs66517057	CTGAAGTATGGACCAGAGGATGTGAG [-/G] GGGGGAGCTGTGTGGTGTCTTGAGG	N	401
rs58057017	TTTTTTGACTTGCCCTAATCTTAGGG [-/A] TATTTACTTGTGTGGAGAGATGCAG	N	401
rs11307304	TTCACTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG	N	401
rs66530612	ATATCACCCTCTAAGGGATTTTTTTT [-/TT/TTT] TTTTTTTTTTTTGAGATGGAGTCTC	N	401
rs11670757	CTGGCTATGCTGGGTACTCAGAAGGG [G/T] GAAGCACTGTGCTGCAAGAGGCCGG	K	404
rs11670725	CCTGCTGTGAAGGCAACCTGGACGCT [C/G] TCTCTGCCTTCCTGGGATTGTGGTG	S	404
rs28374474	GATATTTCTTTTTTTTTTTTTTTTTT [A/T] CTTTTGAGATGGAGTTTTGCTCTTG	W	416
rs59885702	GATATTTCTTTTTTTTTTTTTTTTTT [-/TTTTT/TTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTT] ACTTTTGAGATGGAGTTTTGCTCTT	N	416
rs10418669	ttttttttttttttttttacttttga [A/G] atggagttttgctcttgttgcccag	R	424
rs57096317	GGGTGGCTGGGGTCCGTCACTGGAGT [A/G] ACACTGAAGTATGGACCAGAGGATG	R	427
rs11437196	GTATGGACCAGAGGATGTGAGGGGGG [-/G] AGCTGTGTGGTGTCTTGAGGCAGGT	N	462
rs12709849	gttgcccaggctggagtgcaatggca [C/T] gatcttggctcaccgcctccctggt	Y	467
rs11883104	TGAGCCAAGATTGCGCCATTGCATTC [C/T] GGGCAACAAGAGCAAAACTCCGTCT	Y	476
rs10409251	cacccccataattcaattacctccca [C/G] tggctccttcccacaacatgtggga	S	483
rs59076804	GAGATCCTGTCTCAAAAAAAAAAAAA [-/A] GGAAATTGAAGTCAAAGAGGGAAGT	N	488
rs4803466	TCGTTCCCTTTGTTATCTGGGTGCCA [C/T] CTCCTCTCCCTCCTCATCTTTCCCC	T	500
rs4803467	aggttcaggtgattctcctgcctcag [A/C] ctccggagtagctggaattaaaggc	M	501
rs4803469	GAGGTTCAAGACTGCAGTGAGCTATG [A/C] TTCCACCACCGAACTCCAGTTTGGG	M	501
rs10420556	aagtgattctcctgcctcagcctccc [A/G] aatagctgggactactggcgtgcgc	R	501
rs4803468	AAGCCAGGTAAGAACCTGAGTCAACA [A/G] AGGTGAGGTCATGGGCCCAGGCCAC	R	501
rs4803462	CCTTGAATGTGCCTCCTCCCACCTGG [A/T] GGCCTTTGTAGGTATGAGGTCCTTC	W	501
rs10419188	cccccaagtagctgggattacaggcg [C/T] ccaccaccacactcggctaattttt	Y	501
rs4802117	CAGGTTCAAGCGATTCTCCTGCCTCA [A/G] CCTCCTGAGTAGCTGGGACTATAGG	R	501
rs4802118	ttttagtagagatggggtttcaccac [A/G] ttggtcaggctggtttcaaactcct	R	501
rs10405951	tggccTTAAATTTTATTTATATAttt [A/T] tttttgtagagacgaggtctcacta	W	501
rs12973059	ggcgtgtgcctgtagtcccagctact [C/T] gggaggctgaggcagaagaatcgct	Y	501
rs60637881	GTGGGTGGGGGTGCAGATGGTGCAGG [-/G] TTGGGTGGGGCCTCAAGGCCTTTGC	N	501
rs2241708	GCCCCAGCAGATACTCCAGAGAGGGA [A/G] ACTGAGGCACAGGGGAGACGGCATG	R	501
rs2241709	GAGGGAGACTGAGGCACAGGGGAGAC [A/G] GCATGCTGATGGAAGAGGACCGAAG	R	501
rs12980966	tgaccaggctggtcttgaactcctga [C/T] ctaaggtgatctgcccgcctcggcc	Y	501
rs11880951	GAAATAGTCAGGGAAAGGTTGAGAGG [C/G] TGCATATTGTAGACAGATTGGATTA	S	501
rs10418917	acctggctaattttgtatttttagta [A/G] agatggggtttctccatgttggtca	R	501
rs12971746	gctgggcgtaatggcgtgtgcctgta [A/G] tcccagctacttgggaggctgaggc	R	501
rs12980789	actctgtcgcccaggctggagtacgg [G/T] ggcgcagtcttggctcattgcaact	K	501
rs11880539	TCTTTAGGAAGTGCTCAGCTGCTCAG [A/C] AGCACACTCTGAGACCCAGCCCCAT	M	501
rs7258973	GACGCCATTCTCCTGCCTCAGCCTCC [C/T] GAGTAGCTGGGACTACAGGCGCCCG	Y	501
rs61285302	CTGGGATTACAGGCATGCGCCACCAC [A/C] CCTGGCTAATTTTGTATTTTTAGTA	M	501
rs57114476	AGGGATTTTTTTTTTTTTTTTTTTTT [-/TT] GAGATGGAGTCTCACTGTCACCAGG	N	501
rs10417311	GGGgctgggcgtggtggctcatacct [A/G] tatgagcactttgggaggaggattg	R	501
rs10415116	CTGGTTTGAGGATTAGGTGGCAAACC [A/G] TGGTGGAGTGTACATGCCCTGCCCA	R	501
rs166925	TATGTTTGTGAGCAGACAAATGCAGT [A/G] GGCATGTGGTTGGGAAATCCAGAGT	R	501
rs10422226	CACCATCATTGTTACTTGTTTAGTGT [C/T] TGCCCTCCCTGCTAGGCAgcaagga	Y	501
rs59233264	GACAGAGCAGCCCTCTGTCTCAAAAT [A/G] AGATAGCCACAAGTGGTTGGTGGCT	R	501
rs10411013	gttggccaggctggtctcgaactcct [G/T] gcctcaactgatccacccacctcag	K	501
rs10554793	ATGGTGCAGGGTTTTTGTTTTGTTTT [-/GTTT] TTTGTTTTTTCGAGGTGGAGTTTTG	N	501
rs58959515	TTTGCTCTTGTTCCTGTTTTCAAGAG [C/G] AGGATGCCCGTGTTTTGTGTGTGTG	S	501
rs60285872	TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT] GACTTGCCCTAATCTTAGGGATATT	N	501
rs12327735	ggtgatctgcctgcctcggactccca [A/G] agtgctgggattacaggcgtgagcc	R	501
rs11666243	CTTACCTGTCAACTTGACACTTTTTT [G/T] TTTTTTTAGGCTAGTCAGGTGAAGC	K	501
rs12327737	gctgggattacaggcgtgagccacca [C/T] gcccagccttcctggctaatttaaa	Y	501
rs10416743	CTGGGCTTTCTCAGCCATTCCTCATC [C/T] GACCTGAGGAGGTGTGATGTCCTTG	Y	501
rs12979462	tttttgaggtggagtctcactctgtc [G/T] cccaggctggagtacggtggcgcag	K	501
rs58436091	TTTTGCAGAGAGCCACACAATGAGCT [A/G] AGAAATTAGAACCCAGGGCAGTTGA	R	501
rs59989753	GTCTCCCAAAGTGCTGGGATTACAGG [C/T] GTGAGCCACCACGCCCAGCCTAATT	Y	501
rs10417997	gaactcctgacctcaggtgagccaca [A/G] gtcttggcctcccaaagtgtgggga	R	501
rs10422783	gctgggattacaggcataagccactg [C/T] gcctggctgcgcctggctaattttt	Y	501
rs11083619	TGAACTCCAGAGCCAGGGAACTTAAC [A/C] GCCCATTCATGCATTCACTCAGGAA	M	501
rs11083618	ttgtatttttagtagagacagggttt [C/T] gccatgttggccaggctggtctcga	Y	501
rs8102338	tgaactcctgggctcaagcgatcctc [C/T] ctccttggcctcccaaagtgctggt	Y	574
rs4803461	cGGGCAGGTGATTTTTCTTGTCTTTC [A/G] CCTCTTTCCACTTCAGTCCCCCTGG	R	588
rs284647	gagaaggaggctgcagtgagctgcga [C/T] agcaccactgcactctagcctgggc	Y	654
rs1967334	actccagcctgggcaacagagcgaga [C/T] tccatctcaaaaaaaaaaaaggaga	Y	770
rs284657	ctatctcttaaaaaaaaaaaaaaGCT [C/G] GTTTGAGGATTAGGTGGCAAACCGT	S	821
rs3816037	TGGGGCTCTGGGCAGCCCTGGCATAC [A/G] GATGGACATGAGATCACACAGGGCC	R	1217

results for the gene search with BCKDHA

mRNA pos	aa position	function	mutation	aa change
54	5	synonymous	C/T	-
72	12	synonymous	C/A	-
125	29	missense	G/A	Gly/Glu
153	83	synonymous	C/G, C/T	-
155	39	missense	C/A	Pro/His
156	39	synonymous	C/A	-
238	82	missense	A/C	Met/Leu
330	97	synonymous	G/C	-
491	151	missense	C/T	Thr/Met
547	170	missense	C/T	Pro/Ser
678	213	synonymous	C/T	-
687	216	synonymous	G/T	-
769	244	missense	G/A	Gly/Arg
879	280	synonymous	C/T	-
1011	324	synonymous	C/T	-
1012	325	frame shift	C/	-
1014	325	synonymous	C/T	-
1120	361	missense	A/G	Ile/Val
1260	407	synonymous	A/G	-
1299	420	synonymous	C/T	-

Point mutations can have an influence on the amino acids or not depending on kind of point mutation. There are two different types: synonymous and non-synonymous mutations.

If a point mutation is synonymous it means that the change occurs only in the nucleotide sequence but not in the amino acid sequence. This is possible because of the fact that amino acids are encoded by three nucleotides (codons) and some of the amino acids are encoded by more than one possible arrangement of nucleotides. So it can happen that when there is a mutation in the nucleotide sequence there is also a change in the codon but both codons encode the same amino acid.

The other possibility is that a mutation is non-synonymous which means that the mutation has an influence on the amino acid sequence and the amino acid changes. This change can have more or less severe because amino acids have several properties. When an amino acid is replaced by an amino acid which has the same properties the change is not so grave as the change to an amino acid with completely different properties.