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).

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