Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000269228
Querying Taster for transcript #2: ENST00000412552
MT speed 0 s - this script 3.956231 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NPC1polymorphism_automatic3.42394165260274e-05simple_aaeaffectedM324Isingle base exchangers1788799show file
NPC1polymorphism_automatic0.000152264045453987simple_aaeaffectedM642Isingle base exchangers1788799show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999965760583474 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:21124945C>GN/A show variant in all transcripts   IGV
HGNC symbol NPC1
Ensembl transcript ID ENST00000412552
Genbank transcript ID N/A
UniProt peptide O15118
alteration type single base exchange
alteration region CDS
DNA changes c.972G>C
cDNA.1004G>C
g.41918G>C
AA changes M324I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 324
frameshift no
known variant Reference ID: rs1788799
databasehomozygous (G/G)heterozygousallele carriers
1000G17736192392
ExAC32007-31247760
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0420.84
2.1080.995
(flanking)5.1991
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased41910wt: 0.7556 / mu: 0.7735 (marginal change - not scored)wt: TATATATTTCCCTAGCCTTGGGGCACATGAAAAGCTGTCGC
mu: TATATATTTCCCTAGCCTTGGGGCACATCAAAAGCTGTCGC		 ttgg|GGCA
Donor increased41910wt: 0.20 / mu: 0.29wt: CCTTGGGGCACATGA
mu: CCTTGGGGCACATCA		 TTGG|ggca
Donor gained419160.32mu: GGCACATCAAAAGCT CACA|tcaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      324MFLYISLALGHMKSCRRLLVDSKV
mutated  all conserved    324MFLYISLALGHIKSCRRLLVDSK
Ptroglodytes  all conserved  ENSPTRG00000009920  601PNLSISFTAERSIE
Mmulatta  all conserved  ENSMMUG00000021484  602PNLTISFSAERSIE
Fcatus  all conserved  ENSFCAG00000000519  642MFLYISIALGHIKSCS
Mmusculus  all conserved  ENSMUSG00000024413  642MFLYISLALGHIQSCS
Ggallus  all conserved  ENSGALG00000015030  643MFVYISIALGHIQSWG
Trubripes  all conserved  ENSTRUG00000012253  637MFVYISLALGHIQSFR
Drerio  all conserved  ENSDARG00000017180  644MFVYISVALGRINSCR
Dmelanogaster  all conserved  FBgn0024320  644VKEFKRVFIDSK
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000017177  606PNLSISF------
protein features
start (aa)end (aa)featuredetails 
291350TOPO_DOMCytoplasmic (Potential).lost
351371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
372621TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
452452CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
459459CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
478478CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
524524CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
620785DOMAINSSD.might get lost (downstream of altered splice site)
622642TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
643654TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
655675TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
676677TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
678698TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
699759TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
760780TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
781832TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
833853TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
8541098TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10991119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11201124TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
11251145TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11461195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11961216TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12171227TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
12281248TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12491278TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12751278MOTIFDi-leucine motif.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2883 / 2883
position (AA) of stopcodon in wt / mu AA sequence 961 / 961
position of stopcodon in wt / mu cDNA 2915 / 2915
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 33 / 33
chromosome 18
strand -1
last intron/exon boundary 2833
theoretical NMD boundary in CDS 2750
length of CDS 2883
coding sequence (CDS) position 972
cDNA position
(for ins/del: last normal base / first normal base)		 1004
gDNA position
(for ins/del: last normal base / first normal base)		 41918
chromosomal position
(for ins/del: last normal base / first normal base)		 21124945
original gDNA sequence snippet TCCCTAGCCTTGGGGCACATGAAAAGCTGTCGCAGGCTTCT
altered gDNA sequence snippet TCCCTAGCCTTGGGGCACATCAAAAGCTGTCGCAGGCTTCT
original cDNA sequence snippet TCCCTAGCCTTGGGGCACATGAAAAGCTGTCGCAGGCTTCT
altered cDNA sequence snippet TCCCTAGCCTTGGGGCACATCAAAAGCTGTCGCAGGCTTCT
wildtype AA sequence MYVIMWITYM AFLLVFFGAF FAVWCYRKRY FVSEYTPIDS NIAFSVNASD KGTAWLLTST
FPSSPVLPGE ASCCDPVSAA FEGCLRRLFT RWGSFCVRNP GCVIFFSLVF ITACSSGLVF
VRVTTNPVDL WSAPSSQARL EKEYFDQHFG PFFRTEQLII RAPLTDKHIY QPYPSGADVP
FGPPLDIQIL HQVLDLQIAI ENITASYDNE TVTLQDICLA PLSPYNTNCT ILSVLNYFQN
SHSVLDHKKG DDFFVYADYH THFLYCVRFI NFVKNYKNPN LTISFTAERS IEDELNRESD
SDVFTVVISY AIMFLYISLA LGHMKSCRRL LVDSKVSLGI AGILIVLSSV ACSLGVFSYI
GLPLTLIVIE VIPFLVLAVG VDNIFILVQA YQRDERLQGE TLDQQLGRVL GEVAPSMFLS
SFSETVAFFL GALSVMPAVH TFSLFAGLAV FIDFLLQITC FVSLLGLDIK RQEKNRLDIF
CCVRGAEDGT SVQASESCLF RFFKNSYSPL LLKDWMRPIV IAIFVGVLSF SIAVLNKVDI
GLDQSLSMPD DSYMVDYFKS ISQYLHAGPP VYFVLEEGHD YTSSKGQNMV CGGMGCNNDS
LVQQIFNAAQ LDNYTRIGFA PSSWIDDYFD WVKPQSSCCR VDNITDQFCN ASVVDPACVR
CRPLTPEGKQ RPQGGDFMRF LPMFLSDNPN PKCGKGGHAA YSSAVNILLG HGTRVGATYF
MTYHTVLQTS ADFIDALKKA RLIASNVTET MGINGSAYRV FPYSVFYVFY EQYLTIIDDT
IFNLGVSLGA IFLVTMVLLG CELWSAVIMC ATIAMVLVNM FGVMWLWGIS LNAVSLVNLV
MSCGISVEFC SHITRAFTVS MKGSRVERAE EALAHMGSSV FSGITLTKFG GIVVLAFAKS
QIFQIFYFRM YLAMVLLGAT HGLIFLPVLL SYIGPSVNKA KSCATEERYK GTERERLLNF
*
mutated AA sequence MYVIMWITYM AFLLVFFGAF FAVWCYRKRY FVSEYTPIDS NIAFSVNASD KGTAWLLTST
FPSSPVLPGE ASCCDPVSAA FEGCLRRLFT RWGSFCVRNP GCVIFFSLVF ITACSSGLVF
VRVTTNPVDL WSAPSSQARL EKEYFDQHFG PFFRTEQLII RAPLTDKHIY QPYPSGADVP
FGPPLDIQIL HQVLDLQIAI ENITASYDNE TVTLQDICLA PLSPYNTNCT ILSVLNYFQN
SHSVLDHKKG DDFFVYADYH THFLYCVRFI NFVKNYKNPN LTISFTAERS IEDELNRESD
SDVFTVVISY AIMFLYISLA LGHIKSCRRL LVDSKVSLGI AGILIVLSSV ACSLGVFSYI
GLPLTLIVIE VIPFLVLAVG VDNIFILVQA YQRDERLQGE TLDQQLGRVL GEVAPSMFLS
SFSETVAFFL GALSVMPAVH TFSLFAGLAV FIDFLLQITC FVSLLGLDIK RQEKNRLDIF
CCVRGAEDGT SVQASESCLF RFFKNSYSPL LLKDWMRPIV IAIFVGVLSF SIAVLNKVDI
GLDQSLSMPD DSYMVDYFKS ISQYLHAGPP VYFVLEEGHD YTSSKGQNMV CGGMGCNNDS
LVQQIFNAAQ LDNYTRIGFA PSSWIDDYFD WVKPQSSCCR VDNITDQFCN ASVVDPACVR
CRPLTPEGKQ RPQGGDFMRF LPMFLSDNPN PKCGKGGHAA YSSAVNILLG HGTRVGATYF
MTYHTVLQTS ADFIDALKKA RLIASNVTET MGINGSAYRV FPYSVFYVFY EQYLTIIDDT
IFNLGVSLGA IFLVTMVLLG CELWSAVIMC ATIAMVLVNM FGVMWLWGIS LNAVSLVNLV
MSCGISVEFC SHITRAFTVS MKGSRVERAE EALAHMGSSV FSGITLTKFG GIVVLAFAKS
QIFQIFYFRM YLAMVLLGAT HGLIFLPVLL SYIGPSVNKA KSCATEERYK GTERERLLNF
*
speed 0.84 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999847735954546 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:21124945C>GN/A show variant in all transcripts   IGV
HGNC symbol NPC1
Ensembl transcript ID ENST00000269228
Genbank transcript ID NM_000271
UniProt peptide O15118
alteration type single base exchange
alteration region CDS
DNA changes c.1926G>C
cDNA.2481G>C
g.41918G>C
AA changes M642I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 642
frameshift no
known variant Reference ID: rs1788799
databasehomozygous (G/G)heterozygousallele carriers
1000G17736192392
ExAC32007-31247760
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0420.84
2.1080.995
(flanking)5.1991
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased41910wt: 0.7556 / mu: 0.7735 (marginal change - not scored)wt: TATATATTTCCCTAGCCTTGGGGCACATGAAAAGCTGTCGC
mu: TATATATTTCCCTAGCCTTGGGGCACATCAAAAGCTGTCGC		 ttgg|GGCA
Donor increased41910wt: 0.20 / mu: 0.29wt: CCTTGGGGCACATGA
mu: CCTTGGGGCACATCA		 TTGG|ggca
Donor gained419160.32mu: GGCACATCAAAAGCT CACA|tcaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      642MFLYISLALGHMKSCRRLLVDSKV
mutated  all conserved    642MFLYISLALGHIKSCRRLLVDSK
Ptroglodytes  all conserved  ENSPTRG00000009920  642MFLYISLALGHIKSCRRLLVDSK
Mmulatta  all conserved  ENSMMUG00000021484  643MFLYISLALGHIKSCRRLLVDSK
Fcatus  all conserved  ENSFCAG00000000519  642MFLYISIALGHIKSCSRLLVDSK
Mmusculus  all conserved  ENSMUSG00000024413  642MFLYISLALGHIQSCSRLLVDSK
Ggallus  all conserved  ENSGALG00000015030  643MFVYISIALGHIQSWGRLLVDSK
Trubripes  all conserved  ENSTRUG00000012253  637MFVYISLALGHIQSFRRLLVDSK
Drerio  all conserved  ENSDARG00000017180  644MFVYISVALGRINSCRTLLVDSK
Dmelanogaster  all conserved  FBgn0024320  644AISLGHVKEFKRVFIDSK
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017177  645MFVYISLALGQIGHCSSILVDSK
protein features
start (aa)end (aa)featuredetails 
620785DOMAINSSD.lost
622642TRANSMEMHelical; (Potential).lost
643654TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
655675TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
676677TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
678698TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
699759TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
760780TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
781832TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
833853TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
8541098TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10991119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11201124TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
11251145TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11461195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
11961216TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12171227TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
12281248TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12491278TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12751278MOTIFDi-leucine motif.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3837 / 3837
position (AA) of stopcodon in wt / mu AA sequence 1279 / 1279
position of stopcodon in wt / mu cDNA 4392 / 4392
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 556 / 556
chromosome 18
strand -1
last intron/exon boundary 4310
theoretical NMD boundary in CDS 3704
length of CDS 3837
coding sequence (CDS) position 1926
cDNA position
(for ins/del: last normal base / first normal base)		 2481
gDNA position
(for ins/del: last normal base / first normal base)		 41918
chromosomal position
(for ins/del: last normal base / first normal base)		 21124945
original gDNA sequence snippet TCCCTAGCCTTGGGGCACATGAAAAGCTGTCGCAGGCTTCT
altered gDNA sequence snippet TCCCTAGCCTTGGGGCACATCAAAAGCTGTCGCAGGCTTCT
original cDNA sequence snippet TCCCTAGCCTTGGGGCACATGAAAAGCTGTCGCAGGCTTCT
altered cDNA sequence snippet TCCCTAGCCTTGGGGCACATCAAAAGCTGTCGCAGGCTTCT
wildtype AA sequence MTARGLALGL LLLLLCPAQV FSQSCVWYGE CGIAYGDKRY NCEYSGPPKP LPKDGYDLVQ
ELCPGFFFGN VSLCCDVRQL QTLKDNLQLP LQFLSRCPSC FYNLLNLFCE LTCSPRQSQF
LNVTATEDYV DPVTNQTKTN VKELQYYVGQ SFANAMYNAC RDVEAPSSND KALGLLCGKD
ADACNATNWI EYMFNKDNGQ APFTITPVFS DFPVHGMEPM NNATKGCDES VDEVTAPCSC
QDCSIVCGPK PQPPPPPAPW TILGLDAMYV IMWITYMAFL LVFFGAFFAV WCYRKRYFVS
EYTPIDSNIA FSVNASDKGE ASCCDPVSAA FEGCLRRLFT RWGSFCVRNP GCVIFFSLVF
ITACSSGLVF VRVTTNPVDL WSAPSSQARL EKEYFDQHFG PFFRTEQLII RAPLTDKHIY
QPYPSGADVP FGPPLDIQIL HQVLDLQIAI ENITASYDNE TVTLQDICLA PLSPYNTNCT
ILSVLNYFQN SHSVLDHKKG DDFFVYADYH THFLYCVRAP ASLNDTSLLH DPCLGTFGGP
VFPWLVLGGY DDQNYNNATA LVITFPVNNY YNDTEKLQRA QAWEKEFINF VKNYKNPNLT
ISFTAERSIE DELNRESDSD VFTVVISYAI MFLYISLALG HMKSCRRLLV DSKVSLGIAG
ILIVLSSVAC SLGVFSYIGL PLTLIVIEVI PFLVLAVGVD NIFILVQAYQ RDERLQGETL
DQQLGRVLGE VAPSMFLSSF SETVAFFLGA LSVMPAVHTF SLFAGLAVFI DFLLQITCFV
SLLGLDIKRQ EKNRLDIFCC VRGAEDGTSV QASESCLFRF FKNSYSPLLL KDWMRPIVIA
IFVGVLSFSI AVLNKVDIGL DQSLSMPDDS YMVDYFKSIS QYLHAGPPVY FVLEEGHDYT
SSKGQNMVCG GMGCNNDSLV QQIFNAAQLD NYTRIGFAPS SWIDDYFDWV KPQSSCCRVD
NITDQFCNAS VVDPACVRCR PLTPEGKQRP QGGDFMRFLP MFLSDNPNPK CGKGGHAAYS
SAVNILLGHG TRVGATYFMT YHTVLQTSAD FIDALKKARL IASNVTETMG INGSAYRVFP
YSVFYVFYEQ YLTIIDDTIF NLGVSLGAIF LVTMVLLGCE LWSAVIMCAT IAMVLVNMFG
VMWLWGISLN AVSLVNLVMS CGISVEFCSH ITRAFTVSMK GSRVERAEEA LAHMGSSVFS
GITLTKFGGI VVLAFAKSQI FQIFYFRMYL AMVLLGATHG LIFLPVLLSY IGPSVNKAKS
CATEERYKGT ERERLLNF*
mutated AA sequence MTARGLALGL LLLLLCPAQV FSQSCVWYGE CGIAYGDKRY NCEYSGPPKP LPKDGYDLVQ
ELCPGFFFGN VSLCCDVRQL QTLKDNLQLP LQFLSRCPSC FYNLLNLFCE LTCSPRQSQF
LNVTATEDYV DPVTNQTKTN VKELQYYVGQ SFANAMYNAC RDVEAPSSND KALGLLCGKD
ADACNATNWI EYMFNKDNGQ APFTITPVFS DFPVHGMEPM NNATKGCDES VDEVTAPCSC
QDCSIVCGPK PQPPPPPAPW TILGLDAMYV IMWITYMAFL LVFFGAFFAV WCYRKRYFVS
EYTPIDSNIA FSVNASDKGE ASCCDPVSAA FEGCLRRLFT RWGSFCVRNP GCVIFFSLVF
ITACSSGLVF VRVTTNPVDL WSAPSSQARL EKEYFDQHFG PFFRTEQLII RAPLTDKHIY
QPYPSGADVP FGPPLDIQIL HQVLDLQIAI ENITASYDNE TVTLQDICLA PLSPYNTNCT
ILSVLNYFQN SHSVLDHKKG DDFFVYADYH THFLYCVRAP ASLNDTSLLH DPCLGTFGGP
VFPWLVLGGY DDQNYNNATA LVITFPVNNY YNDTEKLQRA QAWEKEFINF VKNYKNPNLT
ISFTAERSIE DELNRESDSD VFTVVISYAI MFLYISLALG HIKSCRRLLV DSKVSLGIAG
ILIVLSSVAC SLGVFSYIGL PLTLIVIEVI PFLVLAVGVD NIFILVQAYQ RDERLQGETL
DQQLGRVLGE VAPSMFLSSF SETVAFFLGA LSVMPAVHTF SLFAGLAVFI DFLLQITCFV
SLLGLDIKRQ EKNRLDIFCC VRGAEDGTSV QASESCLFRF FKNSYSPLLL KDWMRPIVIA
IFVGVLSFSI AVLNKVDIGL DQSLSMPDDS YMVDYFKSIS QYLHAGPPVY FVLEEGHDYT
SSKGQNMVCG GMGCNNDSLV QQIFNAAQLD NYTRIGFAPS SWIDDYFDWV KPQSSCCRVD
NITDQFCNAS VVDPACVRCR PLTPEGKQRP QGGDFMRFLP MFLSDNPNPK CGKGGHAAYS
SAVNILLGHG TRVGATYFMT YHTVLQTSAD FIDALKKARL IASNVTETMG INGSAYRVFP
YSVFYVFYEQ YLTIIDDTIF NLGVSLGAIF LVTMVLLGCE LWSAVIMCAT IAMVLVNMFG
VMWLWGISLN AVSLVNLVMS CGISVEFCSH ITRAFTVSMK GSRVERAEEA LAHMGSSVFS
GITLTKFGGI VVLAFAKSQI FQIFYFRMYL AMVLLGATHG LIFLPVLLSY IGPSVNKAKS
CATEERYKGT ERERLLNF*
speed 1.06 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

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