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SNP linked to Gene (geneID:55130) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 14
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017016371.1minus strandXP_016871860.1reverseNT_008705.17GRCh38.p7<- currently shown
XM_017016370.1minus strandXP_016871859.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_017016369.1minus strandXP_016871858.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_017016368.1minus strandXP_016871857.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_011519537.2minus strandXP_011517839.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_011519535.2minus strandXP_011517837.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_011519534.2minus strandXP_011517836.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_011519533.2minus strandXP_011517835.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_011519528.1minus strandXP_011517830.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
XM_011519527.1minus strandXP_011517829.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
NM_018076.4minus strandNP_060546.2reverseNT_008705.17GRCh38.p7View snp on GeneModel
NM_001312689.1minus strandNP_001299618.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
NM_001290021.1minus strandNP_001276950.1reverseNT_008705.17GRCh38.p7View snp on GeneModel
NM_001290020.1minus strandNP_001276949.1reverseNT_008705.17GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_008705.17XM_017016371.1XP_016871860.1reverseminus strand1042, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
278125133229 rs926736331 N.D. synonymousA21045
CSer [S]21045
contig referenceG21045
278125173225 rs763015694 0.000 missenseGAla [A]11044
contig referenceAThr [T]11044
278125183224 rs770927145 0.000 synonymousTTyr [Y]31043
contig referenceCTyr [Y]31043
278125223220 rs774587750 0.000 missenseTIle [I]21042
contig referenceGArg [R]21042
278125233219 rs1469966066 N.D. missenseGGly [G]11042
contig referenceAArg [R]11042
278125263216 rs3737184 0.091byClusterbyFreqWith1000GenomeData0.0765 missenseTSer [S]11041
missenseTSer [S]11041
missenseTSer [S]11041
contig referenceGAla [A]11041
contig referenceGAla [A]11041
contig referenceGAla [A]11041
278125263216 rs1195299056 N.D. frame shift-Gln [Q]11041
contig referenceGAla [A]11041
278125273215 rs1453730911 N.D. synonymousALys [K]31040
contig referenceGLys [K]31040
278125313211 rs1307594266 N.D. missenseGGly [G]21039
contig referenceAGlu [E]21039
278125323210 rs1189471618 N.D. missenseALys [K]11039
contig referenceGGlu [E]11039
278125333209 rs1379144760 N.D. synonymousCThr [T]31038
contig referenceAThr [T]31038
278125343208 rs767489618 0.000 missenseALys [K]21038
missenseGArg [R]21038
contig referenceCThr [T]21038
278125353207 rs753002909 0.000 missenseGAla [A]11038
contig referenceAThr [T]11038
278125393203 rs200934236 0.000byClusterWith1000GenomeData0.0002 synonymousCLeu [L]31036
contig referenceTLeu [L]31036
278125413201 rs764460220 0.000byFreq missenseTPhe [F]11036
contig referenceCLeu [L]11036
278125423200 rs754157507 0.000 synonymousCAla [A]31035
contig referenceTAla [A]31035
278125433199 rs757762137 0.000 missenseAAsp [D]21035
contig referenceCAla [A]21035
278125443198 rs1025464178 N.D. missenseAThr [T]11035
contig referenceGAla [A]11035
278125483194 rs556416045 0.000byFreqWith1000GenomeData0.0002 missenseTSer [S]31033
contig referenceGArg [R]31033
278125523190 rs375622560 0.000byClusterbyFreq missenseAHis [H]21032
missenseTLeu [L]21032
contig referenceGArg [R]21032
278125533189 rs745364784 N.D. missenseTCys [C]11032
contig referenceCArg [R]11032
278125613181 rs138588942 0.001byClusterbyFreqWith1000GenomeData0.0016 YesmissenseTPhe [F]21029
contig referenceCSer [S]21029
278125653177 rs747861861 0.000 missenseCLeu [L]11028
contig referenceAIle [I]11028
278125673175 rs769530979 0.000byFreq missenseATyr [Y]21027
contig referenceGCys [C]21027
278125713171 rs957238905 N.D. missenseTCys [C]11026
contig referenceGGly [G]11026
278125783164 rs546928912 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousCAla [A]31023
synonymousGAla [A]31023
contig referenceTAla [A]31023
278125793163 rs749034282 0.000 missenseGGly [G]21023
contig referenceCAla [A]21023
278125803162 rs554115182 0.000With1000GenomeData0.0002 missenseCPro [P]11023
contig referenceGAla [A]11023
278125843158 rs774495532 0.000 synonymousAGln [Q]31021
contig referenceGGln [Q]31021
278125863156 rs867897827 N.D. nonsenseT11021
contig referenceCGln [Q]11021
278125893153 rs759357387 0.000 missenseTPhe [F]11020
contig referenceCLeu [L]11020
278125913151 rs772239137 0.000 missenseGGly [G]21019
contig referenceAAsp [D]21019
278125933149 rs775378809 0.000 missenseCHis [H]31018
contig referenceGGln [Q]31018
278125943148 rs1176150216 N.D. missenseGArg [R]21018
contig referenceAGln [Q]21018
278125953147 rs996693185 N.D. missenseALys [K]11018
missenseGGlu [E]11018
contig referenceCGln [Q]11018
278125963146 rs760987566 0.000 missenseAGlu [E]31017
contig referenceCAsp [D]31017
278125973145 rs764233304 0.000 missenseGGly [G]21017
contig referenceAAsp [D]21017
278126033139 rs754214367 0.000 missenseATyr [Y]21015
missenseTPhe [F]21015
contig referenceCSer [S]21015
278126053137 rs1165275998 N.D. synonymousCGly [G]31014
synonymousTGly [G]31014
contig referenceGGly [G]31014
278126063136 rs1393256524 N.D. missenseCAla [A]21014
contig referenceGGly [G]21014
278126113131 rs1403999093 N.D. missenseAIle [I]31012
contig referenceGMet [M]31012
278126133129 rs1331252892 N.D. missenseGVal [V]11012
contig referenceAMet [M]11012
278126173125 rs866397170 N.D. synonymousALeu [L]31010
contig referenceGLeu [L]31010
278126183124 rs762221801 0.000 missenseGArg [R]21010
contig referenceTLeu [L]21010
278126193123 rs1442049616 N.D. synonymousTLeu [L]11010
contig referenceCLeu [L]11010
278126203122 rs1182124453 N.D. synonymousGLeu [L]31009
contig referenceALeu [L]31009
278606263115 rs779911895 0.000 missenseGArg [R]21007
contig referenceALys [K]21007
278606313110 rs746942166 0.000 synonymousGAla [A]31005
contig referenceAAla [A]31005
278606333108 rs1167723751 N.D. missenseAThr [T]11005
contig referenceGAla [A]11005
278606353106 rs768774922 0.000byFreq missenseAAsp [D]21004
contig referenceGGly [G]21004
278606413100 rs776644400 0.000 missenseGGly [G]21002
contig referenceAGlu [E]21002
278606423099 rs748401451 0.000byCluster missenseALys [K]11002
contig referenceGGlu [E]11002
278606433098 rs769841821 0.000 synonymousCHis [H]31001
contig referenceTHis [H]31001
278606473094 rs201908864 0.000byClusterbyFreq YesmissenseCThr [T]21000
missenseGArg [R]21000
contig referenceTMet [M]21000
278606503091 rs1250603469 N.D. missenseTIle [I]2999
contig referenceCThr [T]2999
278606573084 rs1033227669 N.D. missenseASer [S]1997
contig referenceTCys [C]1997
278606583083 rs988077933 N.D. missenseGLys [K]3996
contig referenceCAsn [N]3996
278606583082 rs1209588739 N.D. frame shiftALys [K]2996
contig reference-Asn [N]2996
278606633078 rs149981194 0.001byClusterbyFreqWith1000GenomeData0.0016 YesmissenseAAsn [N]1995
contig referenceGAsp [D]1995
278606643077 rs148295264 0.004byClusterbyFreqWith1000GenomeData0.0022 YessynonymousTAla [A]3994
contig referenceCAla [A]3994
278606663075 rs369022423 0.000byClusterbyFreq YesmissenseAThr [T]1994
contig referenceGAla [A]1994
278606673074 rs74555138 0.009byClusterbyFreqWith1000GenomeData0.0160 YessynonymousTAsp [D]3993
contig referenceCAsp [D]3993
278606683073 rs1438166038 N.D. missenseGGly [G]2993
contig referenceAAsp [D]2993
278606703071 rs1327805728 N.D. frame shift-Thr [T]3993
contig referenceAAsp [D]3993
278606813060 rs547274221 N.D. nonsenseT1989
contig referenceCGln [Q]1989
278606893052 rs554957301 0.000With1000GenomeData0.0002 missenseAAsp [D]2986
contig referenceCAla [A]2986
278606903051 rs972164483 N.D. missenseAThr [T]1986
contig referenceGAla [A]1986
278606933048 rs1235671447 N.D. missenseGGlu [E]1985
contig referenceCGln [Q]1985
278606943047 rs761558479 0.000 synonymousCAla [A]3984
contig referenceTAla [A]3984
278606993042 rs1418830728 N.D. missenseGAla [A]1983
contig referenceAThr [T]1983
278607003041 rs371338930 0.000byClusterbyFreq YessynonymousAAla [A]3982
synonymousTAla [A]3982
contig referenceGAla [A]3982
278607013040 rs758192226 0.000byFreq missenseTVal [V]2982
contig referenceCAla [A]2982
278607023039 rs146309511 0.000byClusterbyFreq YesmissenseAThr [T]1982
contig referenceGAla [A]1982
278607043037 rs139741736 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2981
missenseTLeu [L]2981
contig referenceGArg [R]2981
278607053036 rs143072735 0.000byClusterbyFreq YesmissenseTTrp [W]1981
contig referenceCArg [R]1981
278607073034 rs748172444 0.000 missenseGArg [R]2980
contig referenceAHis [H]2980
278607093032 rs1226030905 N.D. synonymousAVal [V]3979
contig referenceGVal [V]3979
278607113030 rs150655393 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAMet [M]1979
contig referenceGVal [V]1979
278607123029 rs139934178 0.000byClusterbyFreq YessynonymousTAsn [N]3978
contig referenceCAsn [N]3978
278607133028 rs149687959 0.000byClusterbyFreq YesmissenseGSer [S]2978
contig referenceAAsn [N]2978
278607163025 rs1159975061 N.D. missenseAAsn [N]2977
contig referenceCThr [T]2977
278607173024 rs559118381 0.000byFreqWith1000GenomeData0.0002 missenseTSer [S]1977
contig referenceAThr [T]1977
278607203021 rs1275570419 N.D. missenseCHis [H]1976
contig referenceGAsp [D]1976
278607213020 rs1481913275 N.D. missenseGLys [K]3975
contig referenceTAsn [N]3975
278607233018 rs145526722 0.000byClusterbyFreq YesmissenseCHis [H]1975
missenseGAsp [D]1975
contig referenceAAsn [N]1975
278607343007 rs754142424 N.D.byCluster frame shift-Phe [F]2971
contig referenceATyr [Y]2971
278607373004 rs772636599 0.000 missenseAHis [H]2970
contig referenceGArg [R]2970
278607383003 rs776293552 0.000byFreq missenseASer [S]1970
missenseTCys [C]1970
contig referenceCArg [R]1970
278607413000 rs764798721 0.000 missenseAMet [M]1969
contig referenceGVal [V]1969
278607452996 rs750081562 0.000byFreq synonymousCPro [P]3967
contig referenceAPro [P]3967
278607472994 rs762619940 0.000 missenseTSer [S]1967
contig referenceCPro [P]1967
278607492992 rs201834298 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsp [D]2966
contig referenceCAla [A]2966
278607512990 rs751289620 0.000 synonymousAVal [V]3965
contig referenceGVal [V]3965
278607522989 rs1193928631 N.D. missenseCAla [A]2965
contig referenceTVal [V]2965
278607552986 rs1463331446 N.D. missenseTVal [V]2964
contig referenceCAla [A]2964
278607602981 rs754923153 0.000 missenseAGln [Q]3962
contig referenceCHis [H]3962
278607622979 rs1369854961 N.D. missenseAAsn [N]1962
contig referenceCHis [H]1962
278607672974 rs139577934 0.000byClusterbyFreq YesmissenseAAsp [D]2960
missenseTVal [V]2960
contig referenceGGly [G]2960
278607682973 rs752631264 0.000 missenseASer [S]1960
missenseTCys [C]1960
contig referenceGGly [G]1960
278607692972 rs1379468567 N.D. synonymousTPhe [F]3959
contig referenceCPhe [F]3959
278607712970 rs1361114254 N.D. missenseGVal [V]1959
contig referenceTPhe [F]1959
278607722969 rs144988924 0.000byClusterbyFreq YessynonymousGAla [A]3958
contig referenceCAla [A]3958
278607732968 rs147564767 0.000byCluster YesmissenseTVal [V]2958
contig referenceCAla [A]2958
278607842957 rs145155399 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCSer [S]3954
contig referenceGArg [R]3954
278607852956 rs771141514 0.000 missenseCThr [T]2954
contig referenceGArg [R]2954
278607912950 rs61842685 N.D. YesmissenseTLeu [L]2952
contig referenceGTrp [W]2952
278607932948 rs1274613996 N.D. missenseAIle [I]3951
contig referenceGMet [M]3951
278607972944 rs988199238 N.D. missenseATyr [Y]2950
missenseCSer [S]2950
contig referenceGCys [C]2950
278607982943 rs1213142268 N.D. missenseCArg [R]1950
contig referenceTCys [C]1950
278608032938 rs553623329 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2948
contig referenceGArg [R]2948
278608042937 rs746173842 0.000 missenseTCys [C]1948
contig referenceCArg [R]1948
278608062935 rs1180408667 N.D. nonsenseA2947
contig referenceCSer [S]2947
278608072934 rs772552604 0.000 missenseCPro [P]1947
contig referenceTSer [S]1947
278608102931 rs776203658 0.000 missenseGVal [V]1946
contig referenceAIle [I]1946
278608182923 rs747517841 0.000 missenseAGlu [E]2943
contig referenceCAla [A]2943
278608232918 rs575075615 0.000byFreqWith1000GenomeData0.0002 missenseGGln [Q]3941
contig referenceTHis [H]3941
278608242917 rs1427683744 N.D. missenseGArg [R]2941
contig referenceAHis [H]2941
278608272914 rs772739389 0.000 missenseGArg [R]2940
contig referenceAHis [H]2940
278608312910 rs762518629 0.000 synonymousCArg [R]1939
contig referenceAArg [R]1939
278608352895 rs1373629573 N.D. -1934
278608392902 rs753602333 0.000byCluster frame shift-Ile [I]2936
contig referenceAAsn [N]2936
278608402901 rs765958428 0.000 missenseCHis [H]1936
contig referenceAAsn [N]1936
278608412900 rs35181927 0.005byClusterbyFreqWith1000GenomeData0.0086 YesmissenseALys [K]3935
contig referenceCAsn [N]3935
278608442897 rs759396635 0.000 missenseALys [K]3934
contig referenceTAsn [N]3934
278608452896 rs767271748 0.000 missenseGSer [S]2934
contig referenceAAsn [N]2934
278624342894 rs1266470956 N.D. synonymousCThr [T]3933
contig referenceAThr [T]3933
278624352893 rs767324976 0.000 missenseTIle [I]2933
contig referenceCThr [T]2933
278624412887 rs1182344695 N.D. missenseTVal [V]2931
contig referenceCAla [A]2931
278624422886 rs775312616 0.000byFreq missenseAThr [T]1931
contig referenceGAla [A]1931
278624432885 rs1472218781 N.D. synonymousALeu [L]3930
contig referenceGLeu [L]3930
278624492879 rs760530771 0.000 synonymousASer [S]3928
contig referenceCSer [S]3928
278624542874 rs971101755 N.D. missenseGVal [V]1927
contig referenceTLeu [L]1927
278624552873 rs764030733 0.000 synonymousGLeu [L]3926
contig referenceALeu [L]3926
278624592869 rs1188965657 N.D. missenseAHis [H]2925
missenseTLeu [L]2925
contig referenceCPro [P]2925
278624612865 rs763367784 0.000 -1924
278624632865 rs982230645 N.D. missenseAIle [I]1924
contig referenceGVal [V]1924
278624642864 rs1485690522 N.D. frame shift-Phe [F]3924
contig referenceTVal [V]3924
278624722856 rs1472629701 N.D. missenseGAsp [D]1921
contig referenceCHis [H]1921
278624802848 rs143209791 0.000byCluster YesmissenseCThr [T]2918
contig referenceTIle [I]2918
278624922836 rs764402372 0.000byFreq frame shift-Ile [I]2914
contig referenceAAsn [N]2914
278625012827 rs757477884 0.000 missenseGGly [G]2911
contig referenceAAsp [D]2911
278625102818 rs1198350484 N.D. missenseCThr [T]2908
contig referenceTIle [I]2908
278625122816 rs765376402 0.000 synonymousTAsn [N]3907
contig referenceCAsn [N]3907
278625162812 rs750722314 0.000byFreq missenseTIle [I]2906
contig referenceCThr [T]2906
278625202808 rs1349836652 N.D. missenseGVal [V]1905
contig referenceAIle [I]1905
278625252803 rs187819417 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsp [D]2903
contig referenceCAla [A]2903
278625262802 rs1434873171 N.D. missenseAThr [T]1903
contig referenceGAla [A]1903
278625372791 rs780571698 0.000byFreq missenseAGlu [E]2899
contig referenceCAla [A]2899
278625382790 rs1351261367 N.D. missenseAThr [T]1899
contig referenceGAla [A]1899
278625452783 rs76320448 0.000byClusterWith1000GenomeData0.0002 YessynonymousGGlu [E]3896
contig referenceAGlu [E]3896
278625452780 rs1227849748 N.D. frame shift-Phe [F]3896
contig referenceAGAAGlu [E]3896
278625472781 rs755285563 0.000byCluster nonsenseT1896
contig referenceGGlu [E]1896
278625482778 rs1217872182 N.D. -1895
278625522776 rs781782128 0.000byFreq missenseGSer [S]2894
contig referenceAAsn [N]2894
278625572771 rs1229853743 N.D. synonymousCSer [S]3892
contig referenceASer [S]3892
278625592769 rs1290254042 N.D. missenseCPro [P]1892
contig referenceTSer [S]1892
278625602768 rs1229331932 N.D. missenseTAsn [N]3891
contig referenceALys [K]3891
278625622766 rs748577492 0.000 nonsenseT1891
contig referenceALys [K]1891
278625632765 rs374296211 0.000byCluster YessynonymousALeu [L]3890
contig referenceGLeu [L]3890
278625682760 rs924047199 N.D. synonymousCLeu [L]1889
contig referenceTLeu [L]1889
278625702758 rs1219362986 N.D. missenseGSer [S]2888
contig referenceAAsn [N]2888
278625712757 rs1256307321 N.D. missenseCHis [H]1888
contig referenceAAsn [N]1888
278625732755 rs778348315 0.000 missenseCAla [A]2887
contig referenceTVal [V]2887
278625782750 rs374881931 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCLeu [L]3885
contig referenceTLeu [L]3885
278625912737 rs1180783584 N.D. missenseTVal [V]2881
contig referenceGGly [G]2881
278625942734 rs771643379 0.000 missenseCAla [A]2880
contig referenceTVal [V]2880
278625952733 rs775157474 0.000 missenseAIle [I]1880
contig referenceGVal [V]1880
278625972730 rs752081268 0.000 (45bp)1879
278625992729 rs1164217391 N.D. synonymousTSer [S]3878
contig referenceCSer [S]3878
278626002728 rs760572595 0.000 missenseTPhe [F]2878
contig referenceCSer [S]2878
278626022726 rs1413445603 N.D. synonymousCArg [R]3877
contig referenceTArg [R]3877
278626032725 rs376143899 0.000byClusterbyFreq YesmissenseAHis [H]2877
contig referenceGArg [R]2877
278626042724 rs776670080 0.000byCluster missenseTCys [C]1877
contig referenceCArg [R]1877
278626082720 rs1394507668 N.D. missenseAIle [I]3875
contig referenceGMet [M]3875
278626132715 rs1371692830 N.D. missenseCGln [Q]1874
contig referenceGGlu [E]1874
278626152713 rs151193419 0.000byClusterbyFreq YesmissenseAGlu [E]2873
contig referenceGGly [G]2873
278626162712 rs765428794 0.000byFreq missenseAArg [R]1873
contig referenceGGly [G]1873
278626182710 rs150297564 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAAsp [D]2872
missenseGGly [G]2872
missenseTVal [V]2872
contig referenceCAla [A]2872
278626192709 rs1357627547 N.D. missenseAThr [T]1872
contig referenceGAla [A]1872
278626202708 rs766681902 0.000 synonymousCAsp [D]3871
contig referenceTAsp [D]3871
278626212707 rs200985278 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTVal [V]2871
contig referenceAAsp [D]2871
279076642704 rs757724229 0.000byCluster frame shift-Arg [R]2870
contig referenceALys [K]2870
279076672701 rs1442655983 N.D. missenseTVal [V]2869
contig referenceCAla [A]2869
279076682700 rs983501289 N.D. missenseAThr [T]1869
contig referenceGAla [A]1869
279076732695 rs375976968 0.000byCluster YesmissenseGArg [R]2867
contig referenceALys [K]2867
279076752693 rs767959794 0.000byFreq synonymousAIle [I]3866
contig referenceCIle [I]3866
279076762692 rs1277526541 N.D. missenseCThr [T]2866
contig referenceTIle [I]2866
279076772691 rs752989295 0.000 missenseGVal [V]1866
contig referenceAIle [I]1866
279076792689 rs1341142000 N.D. missenseATyr [Y]2865
contig referenceGCys [C]2865
279076802688 rs756624052 0.000byFreq missenseCArg [R]1865
missenseGGly [G]1865
contig referenceTCys [C]1865
279076812687 rs145042199 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousGPro [P]3864
contig referenceAPro [P]3864
279076852683 rs1449236620 N.D. missenseCSer [S]2863
contig referenceGCys [C]2863
279076872681 rs1172411870 N.D. synonymousGLeu [L]3862
contig referenceCLeu [L]3862
279076922676 rs372383392 N.D. YesmissenseAThr [T]1861
contig referenceGAla [A]1861
279077012667 rs200363248 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAThr [T]1858
contig referenceGAla [A]1858
279077022666 rs535250584 0.000byFreqWith1000GenomeData0.0002 synonymousTSer [S]3857
contig referenceCSer [S]3857
279077042664 rs369880731 0.000byCluster YesmissenseGGly [G]1857
contig referenceASer [S]1857
279077062662 rs1241280737 N.D. missenseTVal [V]2856
contig referenceCAla [A]2856
279077102658 rs777760843 0.000 missenseGGlu [E]1855
contig referenceALys [K]1855
279077122656 rs1400359986 N.D. missenseCAla [A]2854
contig referenceTVal [V]2854
279077132655 rs371924761 0.000byClusterbyFreq YesmissenseAMet [M]1854
contig referenceGVal [V]1854
279077142654 rs553264617 0.000byFreqWith1000GenomeData0.0002 synonymousTAsp [D]3853
contig referenceCAsp [D]3853
279077182650 rs748016173 0.000byFreq missenseGArg [R]2852
contig referenceCPro [P]2852
279077192649 rs1484451921 N.D. missenseAThr [T]1852
contig referenceCPro [P]1852
279077222646 rs1434077132 N.D. missenseTTyr [Y]1851
contig referenceCHis [H]1851
279077242644 rs1295384886 N.D. missenseTLeu [L]2850
contig referenceCPro [P]2850
279077272641 rs1332728578 N.D. missenseGSer [S]2849
missenseTIle [I]2849
contig referenceAAsn [N]2849
279077312637 rs1233381318 N.D. missenseCGln [Q]1848
contig referenceALys [K]1848
279077352633 rs1273681974 N.D. synonymousALeu [L]3846
synonymousTLeu [L]3846
contig referenceGLeu [L]3846
279077392629 rs1212561893 N.D. missenseATyr [Y]2845
contig referenceCSer [S]2845
279077472621 rs769708918 0.000byFreq synonymousALeu [L]3842
contig referenceGLeu [L]3842
279077482620 rs1210170456 N.D. missenseCSer [S]2842
contig referenceTLeu [L]2842
279077512617 rs773324248 0.000 missenseAHis [H]2841
contig referenceGArg [R]2841
279077522616 rs749218788 0.000byFreq missenseTCys [C]1841
contig referenceCArg [R]1841
279077662602 rs376281682 0.000byClusterbyFreq YesmissenseAHis [H]2836
contig referenceGArg [R]2836
279077672601 rs369264618 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTCys [C]1836
contig referenceCArg [R]1836
279077702598 rs1270130618 N.D. missenseTTyr [Y]1835
contig referenceGAsp [D]1835
279077712597 rs759812116 0.000 synonymousCIle [I]3834
contig referenceTIle [I]3834
279077722596 rs150213638 0.000byClusterbyFreq YesmissenseCThr [T]2834
contig referenceTIle [I]2834
279077762592 rs1286173840 N.D. missenseGVal [V]1833
contig referenceAIle [I]1833
279350102590 rs1363602173 N.D. missenseCThr [T]2832
contig referenceTMet [M]2832
279350132587 rs1212622135 N.D. missenseALys [K]2831
contig referenceTMet [M]2831
279350142586 rs762385193 0.000 missenseGVal [V]1831
contig referenceAMet [M]1831
279350172583 rs1342940069 N.D. missenseCArg [R]1830
contig referenceASer [S]1830
279350252575 rs1308059533 N.D. missenseGGly [G]2827
contig referenceAGlu [E]2827
279350262574 rs765722458 0.000byFreq nonsenseT1827
contig referenceGGlu [E]1827
279350292571 rs1164883375 N.D. missenseCLeu [L]1826
contig referenceGVal [V]1826
279350312569 rs1424945013 N.D. missenseGGly [G]2825
missenseTVal [V]2825
contig referenceCAla [A]2825
279350322568 rs1163406491 N.D. missenseTSer [S]1825
contig referenceGAla [A]1825
279350372563 rs1443157618 N.D. missenseTVal [V]2823
contig referenceCAla [A]2823
279350402560 rs1299601175 N.D. missenseTVal [V]2822
contig referenceGGly [G]2822
279350442556 rs1389250920 N.D. missenseAIle [I]1821
contig referenceGVal [V]1821
279350452555 rs138851854 0.000byCluster YessynonymousTAla [A]3820
contig referenceAAla [A]3820
279350462554 rs754489256 0.000 missenseAGlu [E]2820
contig referenceCAla [A]2820
279350492551 rs1341508556 N.D. missenseTIle [I]2819
contig referenceALys [K]2819
279350602540 rs1244494571 N.D. synonymousTVal [V]3815
contig referenceGVal [V]3815
279350622538 rs767114873 0.000 missenseAMet [M]1815
contig referenceGVal [V]1815
279350652535 rs750518822 0.000byCluster frame shift-1815
contig referenceCVal [V]1815
279350672533 rs925725505 N.D. missenseCPro [P]2813
contig referenceTLeu [L]2813
279350692531 rs752423499 0.000 synonymousAAla [A]3812
contig referenceTAla [A]3812
279350722528 rs755790914 0.000 missenseTHis [H]3811
synonymousGGln [Q]3811
contig referenceAGln [Q]3811
279350752525 rs867758259 N.D. synonymousTAsn [N]3810
contig referenceCAsn [N]3810
279350792521 rs777719165 0.000 missenseALys [K]2809
contig referenceTIle [I]2809
279350832517 rs753521915 0.000 missenseAArg [R]1808
contig referenceGGly [G]1808
279350862514 rs1257095854 N.D. missenseTPhe [F]1807
contig referenceGVal [V]1807
279350972503 rs757057849 0.000byFreq missenseCAla [A]2803
contig referenceTVal [V]2803
279351022498 rs778777989 0.000 synonymousGPro [P]3801
contig referenceAPro [P]3801
279351032497 rs1383330547 N.D. missenseGArg [R]2801
contig referenceCPro [P]2801
279351042496 rs1431485797 N.D. missenseAThr [T]1801
contig referenceCPro [P]1801
279351052495 rs745784537 0.000 synonymousGGln [Q]3800
contig referenceAGln [Q]3800
279351062494 rs1224782422 N.D. missenseCPro [P]2800
contig referenceAGln [Q]2800
279351152485 rs772185029 0.000 missenseAAsp [D]2797
missenseTVal [V]2797
contig referenceGGly [G]2797
279351162484 rs780057616 0.000 missenseASer [S]1797
contig referenceGGly [G]1797
279351172483 rs1243588202 N.D. synonymousCCys [C]3796
contig referenceTCys [C]3796
279351202480 rs1304281590 N.D. synonymousGLys [K]3795
contig referenceALys [K]3795
279351242476 rs747260565 0.000 missenseAGln [Q]2794
contig referenceGArg [R]2794
279351252475 rs35280610 0.000byCluster YesmissenseTTrp [W]1794
contig referenceCArg [R]1794
279351262474 rs1313312765 N.D. synonymousTVal [V]3793
contig referenceCVal [V]3793
279351312469 rs1359730321 N.D. missenseGVal [V]1792
contig referenceAIle [I]1792
279351322468 rs1304481985 N.D. synonymousAVal [V]3791
contig referenceCVal [V]3791
279351362464 rs776992489 0.000 missenseAGln [Q]2790
contig referenceGArg [R]2790
279351372463 rs1229705288 N.D. nonsenseT1790
contig referenceCArg [R]1790
279351422458 rs762152739 0.000 missenseCAla [A]2788
contig referenceAGlu [E]2788
279351442456 rs1340192146 N.D. synonymousCArg [R]3787
contig referenceTArg [R]3787
279351452455 rs376908802 0.000byCluster YesmissenseAHis [H]2787
contig referenceGArg [R]2787
279351462454 rs35242712 0.098byClusterbyFreqWith1000GenomeData0.0749 YesmissenseASer [S]1787
missenseASer [S]1787
missenseTCys [C]1787
missenseTCys [C]1787
contig referenceCArg [R]1787
contig referenceCArg [R]1787
279351482452 rs1483019713 N.D. missenseGGly [G]2786
contig referenceAGlu [E]2786
279351512449 rs763471776 0.000 missenseGArg [R]2785
contig referenceAGln [Q]2785
279351582442 rs767169905 0.000byFreq missenseASer [S]1783
missenseGGly [G]1783
contig referenceTCys [C]1783
279351592441 rs1451088538 N.D. missenseCAsp [D]3782
contig referenceAGlu [E]3782
279351632437 rs145619075 0.004byClusterbyFreqWith1000GenomeData0.0004 YesmissenseTVal [V]2781
contig referenceGGly [G]2781
279351662434 rs763894304 0.000 missenseCSer [S]2780
contig referenceTLeu [L]2780
279351692431 rs1010426754 N.D. missenseTVal [V]2779
contig referenceCAla [A]2779
279351702430 rs1041878021 N.D. missenseAThr [T]1779
contig referenceGAla [A]1779
279351712429 rs138219785 0.004byClusterbyFreqWith1000GenomeData0.0030 YessynonymousAGly [G]3778
contig referenceGGly [G]3778
279351752425 rs1177560529 N.D. missenseCAla [A]2777
contig referenceTVal [V]2777
279351762424 rs1338366814 N.D. missenseAIle [I]1777
contig referenceGVal [V]1777
279351782422 rs1359407550 N.D. missenseCAla [A]2776
contig referenceTVal [V]2776
279351832417 rs757039976 0.000 synonymousTVal [V]3774
contig referenceGVal [V]3774
279351892411 rs778743746 0.000 synonymousGVal [V]3772
contig referenceAVal [V]3772
279351952405 rs1252069436 N.D. synonymousGGlu [E]3770
contig referenceAGlu [E]3770
279351992401 rs117515566 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseAHis [H]2769
missenseTLeu [L]2769
contig referenceCPro [P]2769
279352012399 rs1436260781 N.D. missenseCHis [H]3768
contig referenceGGln [Q]3768
279352042396 rs1320519276 N.D. synonymousCAsp [D]3767
contig referenceTAsp [D]3767
279352102390 rs1192932514 N.D. synonymousGLeu [L]3765
contig referenceALeu [L]3765
279352112389 rs758289540 0.000byFreq missenseCPro [P]2765
contig referenceTLeu [L]2765
279352122388 rs1221036983 N.D. missenseGVal [V]1765
contig referenceCLeu [L]1765
279352152385 rs1301996954 N.D. missenseGVal [V]1764
contig referenceCLeu [L]1764
279352172383 rs1311828754 N.D. missenseTVal [V]2763
contig referenceGGly [G]2763
279352192381 rs780112130 0.000byFreq synonymousAVal [V]3762
contig referenceGVal [V]3762
279352202380 rs1251706137 N.D. missenseCAla [A]2762
contig referenceTVal [V]2762
279352212379 rs201498403 0.000byClusterbyFreq YesmissenseCLeu [L]1762
contig referenceGVal [V]1762
279352222378 rs768719701 0.000byFreq synonymousALeu [L]3761
contig referenceGLeu [L]3761
279352242376 rs1209091145 N.D. missenseGVal [V]1761
synonymousCLeu [L]1761
contig referenceTLeu [L]1761
279352252375 rs571264531 0.000byFreqWith1000GenomeData0.0002 synonymousTThr [T]3760
contig referenceCThr [T]3760
279352262374 rs1285108766 N.D. missenseAAsn [N]2760
contig referenceCThr [T]2760
279352332367 rs143059966 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseCLeu [L]1758
missenseGVal [V]1758
contig referenceAIle [I]1758
279352342366 rs112483026 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAAla [A]3757
synonymousGAla [A]3757
contig referenceCAla [A]3757
279352352365 rs763561367 0.000byFreq missenseTVal [V]2757
contig referenceCAla [A]2757
279352402360 rs1396729138 N.D. synonymousTTyr [Y]3755
contig referenceCTyr [Y]3755
279352452355 rs200299616 0.000byClusterbyFreq YesnonsenseT1754
missenseALys [K]1754
contig referenceGGlu [E]1754
279352472353 rs760325470 0.000byFreq missenseAGln [Q]2753
contig referenceGArg [R]2753
279352482352 rs763662864 0.000byClusterbyFreq missenseTTrp [W]1753
synonymousAArg [R]1753
contig referenceCArg [R]1753
279352492351 rs961909404 N.D. missenseGLeu [L]3752
contig referenceTPhe [F]3752
279352522348 rs753480648 0.000 synonymousALys [K]3751
contig referenceGLys [K]3751
279367292344 rs772725937 0.000 missenseTIle [I]2750
contig referenceCThr [T]2750
279367302342 rs35521919 N.D. Yesframe shiftAAsn [N]3750
contig reference-Thr [T]3750
279367342339 rs369032642 0.000byClusterbyFreq YessynonymousCAsn [N]3748
contig referenceTAsn [N]3748
279367372336 rs189769716 0.000byClusterWith1000GenomeData0.0002 YessynonymousAGlu [E]3747
contig referenceGGlu [E]3747
279367422331 rs1444213907 N.D. missenseGGlu [E]1746
contig referenceALys [K]1746
279367442329 rs1229798432 N.D. missenseTIle [I]2745
contig referenceGSer [S]2745
279367452328 rs1290544746 N.D. missenseGGly [G]1745
contig referenceASer [S]1745
279367462327 rs372522668 0.000byCluster YessynonymousTIle [I]3744
contig referenceCIle [I]3744
279367482325 rs754871301 0.000 missenseGVal [V]1744
contig referenceAIle [I]1744
279367492324 rs767502160 0.000byFreq synonymousTSer [S]3743
contig referenceCSer [S]3743
279367542319 rs752767697 N.D. missenseCArg [R]1742
contig referenceTCys [C]1742
279367552318 rs749514705 0.000byFreq frame shift-Asn [N]3741
contig referenceALys [K]3741
279367552318 rs1483092372 N.D. synonymousGLys [K]3741
contig referenceALys [K]3741
279367582315 rs867142532 N.D.byCluster nonsenseA3740
contig referenceGTrp [W]3740
279367592314 rs201213030 0.000byClusterbyFreq YesnonsenseA2740
contig referenceGTrp [W]2740
279367602313 rs148764188 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseCArg [R]1740
contig referenceTTrp [W]1740
279367682305 rs1473999696 N.D. missenseAGlu [E]2737
contig referenceGGly [G]2737
279367692304 rs749486825 0.000 missenseAArg [R]1737
contig referenceGGly [G]1737
279367702303 rs757741852 0.000byFreq synonymousCThr [T]3736
synonymousGThr [T]3736
synonymousTThr [T]3736
contig referenceAThr [T]3736
279367762297 rs779369492 0.000 synonymousCAla [A]3734
contig referenceTAla [A]3734
279367782295 rs201990903 0.002byCluster YesmissenseAThr [T]1734
contig referenceGAla [A]1734
279367812289 rs1375785757 N.D. frame shift-Leu [L]1733
contig referenceTTAGAla [A]1733
279367852288 rs1329239422 N.D. synonymousCArg [R]3731
contig referenceGArg [R]3731
279367862287 rs746405520 0.000byFreq missenseAGln [Q]2731
missenseCPro [P]2731
contig referenceGArg [R]2731
279367872286 rs772563349 0.000byFreq missenseTTrp [W]1731
contig referenceCArg [R]1731
279367882285 rs758249171 0.000 synonymousAGlu [E]3730
contig referenceGGlu [E]3730
279367902283 rs1327164758 N.D. missenseALys [K]1730
contig referenceGGlu [E]1730
279367912282 rs747752366 0.000 synonymousGLys [K]3729
contig referenceALys [K]3729
279367932280 rs999741936 N.D. missenseGGlu [E]1729
contig referenceALys [K]1729
279368062267 rs1409688025 N.D. synonymousCAsn [N]3724
contig referenceTAsn [N]3724
279368072266 rs1042328230 N.D. missenseGSer [S]2724
contig referenceAAsn [N]2724
279368082265 rs141504921 0.000byClusterbyFreq YesmissenseGAsp [D]1724
contig referenceAAsn [N]1724
279368122261 rs772901515 0.000byFreq synonymousGLeu [L]3722
contig referenceALeu [L]3722
279368132260 rs1177338932 N.D. missenseCPro [P]2722
contig referenceTLeu [L]2722
279368142259 rs1032364398 N.D. missenseGVal [V]1722
contig referenceCLeu [L]1722
279368162257 rs762544821 0.000 missenseAAsn [N]2721
contig referenceGSer [S]2721
279368162257 rs768476917 0.000byCluster frame shift-Ile [I]2721
contig referenceGSer [S]2721
279368182255 rs1342311497 N.D. synonymousTAla [A]3720
contig referenceCAla [A]3720
279368192254 rs1194704611 N.D. missenseAAsp [D]2720
missenseTVal [V]2720
contig referenceCAla [A]2720
279368242249 rs1270480857 N.D. synonymousGPro [P]3718
contig referenceCPro [P]3718
279368252248 rs1443741340 N.D. missenseAHis [H]2718
missenseTLeu [L]2718
contig referenceCPro [P]2718
279368272246 rs375534822 0.000byClusterbyFreq YessynonymousALys [K]3717
contig referenceGLys [K]3717
279368312242 rs774069311 0.000byFreq missenseGArg [R]2716
contig referenceTLeu [L]2716
279368372236 rs759408434 0.000 missenseCAla [A]2714
contig referenceGGly [G]2714
279368382235 rs866425433 N.D.byCluster missenseAArg [R]1714
contig referenceGGly [G]1714
279368392234 rs767552721 0.000byFreq synonymousTHis [H]3713
contig referenceCHis [H]3713
279368392234 rs1217543234 N.D. frame shift-Gln [Q]3713
contig referenceCHis [H]3713
279368432230 rs377289499 0.000 YesmissenseAGln [Q]2712
contig referenceTLeu [L]2712
279368452228 rs752577298 0.000 missenseTSer [S]3711
synonymousAArg [R]3711
contig referenceGArg [R]3711
279368502223 rs370547662 0.000byClusterbyFreq YesmissenseAIle [I]1710
contig referenceGVal [V]1710
279368512222 rs111586634 0.002byClusterbyFreqWith1000GenomeData0.0028 YessynonymousTLeu [L]3709
contig referenceCLeu [L]3709
279368532220 rs1379776041 N.D. missenseGVal [V]1709
contig referenceCLeu [L]1709
279368542219 rs751168097 N.D. synonymousTAsp [D]3708
contig referenceCAsp [D]3708
279368582215 rs139517333 0.000byClusterbyFreq YesmissenseAGln [Q]2707
contig referenceGArg [R]2707
279368592214 rs145133998 0.000byClusterbyFreqWith1000GenomeData0.0008 YesmissenseTTrp [W]1707
contig referenceCArg [R]1707
279368672206 rs779423547 0.000byFreq missenseCThr [T]2704
contig referenceALys [K]2704
279368702203 rs750757328 0.000 missenseTVal [V]2703
contig referenceAAsp [D]2703
279368762197 rs758676572 0.000 missenseTVal [V]2701
contig referenceCAla [A]2701
279368772196 rs780676975 0.000 missenseAThr [T]1701
contig referenceGAla [A]1701
279398992190 rs1232109914 N.D. nonsenseT1699
contig referenceCGln [Q]1699
279399022187 rs778597841 0.000byFreq frame shift-Thr [T]1698
contig referenceTTyr [Y]1698
279399052184 rs1350403746 N.D. missenseCLeu [L]1697
contig referenceAIle [I]1697
279399082181 rs765611160 0.000 missenseAThr [T]1696
contig referenceGAla [A]1696
279399092180 rs1292613263 N.D. missenseAIle [I]3695
contig referenceGMet [M]3695
279399112178 rs1035929134 N.D. missenseGVal [V]1695
contig referenceAMet [M]1695
279399132167 rs748077762 0.000byCluster frame shift-Ala [A]2691
contig reference(10bp)Glu [E]2691
279399142175 rs556371991 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]1694
missenseCPro [P]1694
missenseTSer [S]1694
contig referenceGAla [A]1694
279399152174 rs140338410 0.000byClusterbyFreq YessynonymousTCys [C]3693
contig referenceCCys [C]3693
279399192170 rs1193687241 N.D. missenseCPro [P]2692
contig referenceAHis [H]2692
279399232166 rs752140248 0.000byFreq missenseALys [K]1691
contig referenceGGlu [E]1691
279399282161 rs1364239325 N.D. missenseCPro [P]2689
contig referenceTLeu [L]2689
279399352154 rs1452777300 N.D. missenseCGln [Q]1687
contig referenceGGlu [E]1687
279399362153 rs7893462 0.497byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.4669 YessynonymousCAsn [N]3686
contig referenceTAsn [N]3686
279399412148 rs777280534 0.000 missenseALys [K]1685
contig referenceGGlu [E]1685
279399522137 rs547434035 N.D.byCluster missenseGSer [S]2681
contig referenceAAsn [N]2681
279399552134 rs748857448 0.000byFreq missenseGArg [R]2680
contig referenceALys [K]2680
279399562133 rs770427120 0.000 missenseCGln [Q]1680
contig referenceALys [K]1680
279399572132 rs1214951603 N.D. synonymousGVal [V]3679
contig referenceCVal [V]3679
279399602129 rs778581107 0.000 synonymousCLeu [L]3678
contig referenceTLeu [L]3678
279399612128 rs1334924276 N.D. missenseAHis [H]2678
contig referenceTLeu [L]2678
279399632126 rs1022012517 N.D. synonymousTAsn [N]3677
contig referenceCAsn [N]3677
279399642125 rs968836627 N.D. missenseGSer [S]2677
contig referenceAAsn [N]2677
279399682121 rs1288612955 N.D. missenseALys [K]1676
contig referenceGGlu [E]1676
279399742115 rs745483471 0.000 missenseCLeu [L]1674
contig referenceAIle [I]1674
279399802109 rs771920114 0.000 nonsenseT1672
contig referenceGGlu [E]1672
279399812108 rs775104383 0.000 synonymousGAla [A]3671
contig referenceAAla [A]3671
279399822107 rs1228241061 N.D. missenseAGlu [E]2671
missenseTVal [V]2671
contig referenceCAla [A]2671
279399892100 rs760664232 0.000 missenseGVal [V]1669
contig referenceAIle [I]1669
279399922097 rs1357606759 N.D. missenseAThr [T]1668
contig referenceGAla [A]1668
279399932089 rs1484753031 N.D. frame shift-Cys [C]2665
contig reference(8bp)Tyr [Y]2665
279399942095 rs1221855590 N.D. missenseTVal [V]2667
contig referenceCAla [A]2667
279399952094 rs1289602902 N.D. missenseAThr [T]1667
contig referenceGAla [A]1667
279399972092 rs35472668 0.100byClusterbyFreqWith1000GenomeData0.0749 YesmissenseAGln [Q]2666
missenseAGln [Q]2666
missenseCPro [P]2666
missenseCPro [P]2666
contig referenceGArg [R]2666
contig referenceGArg [R]2666
279399982091 rs762051082 0.000 missenseTTrp [W]1666
contig referenceCArg [R]1666
279400022087 rs1443105236 N.D. synonymousTAsn [N]3664
contig referenceCAsn [N]3664
279400072082 rs765376476 0.000 missenseALys [K]1663
contig referenceGGlu [E]1663
279405632081 rs866360941 N.D. synonymousAGlu [E]3662
contig referenceGGlu [E]3662
279405642080 rs749842787 0.000 missenseTVal [V]2662
contig referenceAGlu [E]2662
279405762068 rs1215265131 N.D. missenseGGly [G]2658
contig referenceAGlu [E]2658
279405802064 rs868755574 N.D.byCluster nonsenseT1657
contig referenceCGln [Q]1657
279405812063 rs890547525 N.D. missenseCPhe [F]3656
contig referenceGLeu [L]3656
279405892055 rs1256785481 N.D. missenseCArg [R]1654
contig referenceGGly [G]1654
279405902054 rs988754575 N.D. synonymousCVal [V]3653
contig referenceGVal [V]3653
279405942050 rs1228503693 N.D. missenseCAla [A]2652
contig referenceTVal [V]2652
279405962048 rs1233919149 N.D. synonymousGPro [P]3651
contig referenceAPro [P]3651
279406012043 rs779637564 0.000byFreq missenseGVal [V]1650
contig referenceAIle [I]1650
279406042040 rs12261771 N.D. YessynonymousTLeu [L]1649
contig referenceCLeu [L]1649
279406082036 rs542617133 0.000byFreqWith1000GenomeData0.0002 synonymousTAsn [N]3647
contig referenceCAsn [N]3647
279406142030 rs554582469 0.000With1000GenomeData0.0002 missenseGGln [Q]3645
synonymousCHis [H]3645
contig referenceTHis [H]3645
279406212023 rs1350064071 N.D. missenseAAsn [N]2643
contig referenceCThr [T]2643
279406222022 rs1288277554 N.D. missenseTSer [S]1643
contig referenceAThr [T]1643
279406242020 rs781094685 0.000byFreq missenseGArg [R]2642
contig referenceALys [K]2642
279406272017 rs748101941 0.000byFreq missenseCPro [P]2641
contig referenceTLeu [L]2641
279406282016 rs12261776 N.D. YessynonymousTLeu [L]1641
contig referenceCLeu [L]1641
279406332011 rs148908705 0.000byClusterbyFreq YesmissenseAGln [Q]2639
contig referenceGArg [R]2639
279406342010 rs1177855134 N.D. missenseGGly [G]1639
missenseTTrp [W]1639
contig referenceCArg [R]1639
279406362008 rs961166061 N.D. missenseTVal [V]2638
contig referenceCAla [A]2638
279406372007 rs773189950 0.000 missenseTSer [S]1638
contig referenceGAla [A]1638
279406412003 rs749398179 0.000 synonymousALeu [L]3636
contig referenceGLeu [L]3636
279406432001 rs1444208303 N.D. missenseAMet [M]1636
synonymousTLeu [L]1636
contig referenceCLeu [L]1636
279406471997 rs772789970 0.000 frame shift-Leu [L]3635
contig referenceTPro [P]3635
279406481996 rs1179918113 N.D. missenseCThr [T]2634
contig referenceTIle [I]2634
279406511988 rs760247893 0.000 -3632
279406521992 rs1432027483 N.D. missenseCArg [R]1633
contig referenceGGly [G]1633
279406531991 rs771014848 0.000 synonymousAGly [G]3632
contig referenceGGly [G]3632
279406571986 rs770628809 0.000 AAGGlu [E]1630
279406631981 rs200127444 0.000byClusterbyFreq missenseAHis [H]2629
missenseTLeu [L]2629
contig referenceGArg [R]2629
279406641980 rs142598573 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1629
contig referenceCArg [R]1629
279406691975 rs1284196183 N.D. missenseGGly [G]2627
contig referenceCAla [A]2627
279406801964 rs189617150 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousAThr [T]3623
contig referenceGThr [T]3623
279406811963 rs375702916 0.000byClusterbyFreq missenseTMet [M]2623
contig referenceCThr [T]2623
279406831961 rs761181016 0.000byFreq missenseAGln [Q]3622
contig referenceTHis [H]3622
279406861958 rs1318498363 N.D. missenseGArg [R]3621
contig referenceTSer [S]3621
279406871957 rs1216485414 N.D. missenseAAsn [N]2621
contig referenceGSer [S]2621
279406941950 rs764565658 0.000 missenseCArg [R]1619
missenseGGly [G]1619
contig referenceASer [S]1619
279406981931 rs776388220 0.000 frame shift-Ala [A]3613
contig reference(16bp)Leu [L]3613
279406991945 rs754364124 0.000 missenseTIle [I]2617
contig referenceGSer [S]2617
279407041940 rs1192390108 N.D. synonymousALeu [L]3615
contig referenceGLeu [L]3615
279407091935 rs1269186904 N.D. missenseAThr [T]1614
contig referenceGAla [A]1614
279407101934 rs1479874986 N.D. synonymousALeu [L]3613
contig referenceGLeu [L]3613
279407141930 rs1197724254 N.D. missenseGGly [G]2612
contig referenceCAla [A]2612
279407161928 rs762408624 0.000 synonymousAGly [G]3611
synonymousTGly [G]3611
contig referenceGGly [G]3611
279407231921 rs193065583 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseAHis [H]2609
missenseCPro [P]2609
contig referenceGArg [R]2609
279407241920 rs937112850 N.D. missenseTCys [C]1609
contig referenceCArg [R]1609
279407261918 rs754610842 0.000 missenseAAsp [D]2608
missenseGGly [G]2608
contig referenceCAla [A]2608
279407281916 rs1459530248 N.D. synonymousAVal [V]3607
contig referenceGVal [V]3607
279407331911 rs781149711 0.000 nonsenseT1606
contig referenceGGlu [E]1606
279407341910 rs752595437 0.000byClusterbyFreq synonymousAVal [V]3605
contig referenceGVal [V]3605
279407361908 rs1210841509 N.D. missenseAMet [M]1605
contig referenceGVal [V]1605
279407371907 rs746829907 0.000byClusterbyFreq synonymousTAsp [D]3604
contig referenceCAsp [D]3604
279407451899 rs1380786520 N.D. missenseAThr [T]1602
contig referenceGAla [A]1602
279407481896 rs777609514 0.000byClusterbyFreq missenseALys [K]1601
contig referenceGGlu [E]1601
279407501894 rs369955640 0.000byClusterbyFreq YesmissenseGCys [C]2600
contig referenceATyr [Y]2600
279407511893 rs1224100793 N.D. missenseAAsn [N]1600
contig referenceTTyr [Y]1600
279407521892 rs926907910 N.D. synonymousALeu [L]3599
synonymousTLeu [L]3599
contig referenceGLeu [L]3599
279407541890 rs770934456 0.000 synonymousTLeu [L]1599
contig referenceCLeu [L]1599
279407561888 rs1315009522 N.D. missenseAAsn [N]2598
contig referenceGSer [S]2598
279407581886 rs779015420 0.000byFreq synonymousASer [S]3597
contig referenceGSer [S]3597
279407591885 rs532755252 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]2597
contig referenceCSer [S]2597
279407611883 rs1406986085 N.D. synonymousGGln [Q]3596
contig referenceAGln [Q]3596
279407621882 rs772227784 0.000 missenseGArg [R]2596
contig referenceAGln [Q]2596
279407631881 rs775678325 0.000 missenseGGlu [E]1596
contig referenceCGln [Q]1596
279407651879 rs940314892 N.D. missenseTVal [V]2595
contig referenceCAla [A]2595
279407661878 rs761097127 0.000 missenseCPro [P]1595
contig referenceGAla [A]1595
279407741870 rs913433399 N.D. missenseTIle [I]2592
contig referenceCThr [T]2592
279407751869 rs1391859063 N.D. missenseGAla [A]1592
contig referenceAThr [T]1592
279407821862 rs946189100 N.D. synonymousCHis [H]3589
contig referenceTHis [H]3589
279407831861 rs769035182 0.000byFreq missenseGArg [R]2589
contig referenceAHis [H]2589
279407891855 rs777054337 0.000byFreq missenseATyr [Y]2587
contig referenceGCys [C]2587
279407911853 rs762333658 0.000 missenseGGlu [E]3586
contig referenceCAsp [D]3586
279407921852 rs926190823 N.D. missenseGGly [G]2586
contig referenceAAsp [D]2586
279407931851 rs765811989 0.000 missenseAAsn [N]1586
contig referenceGAsp [D]1586
279407971847 rs368560892 0.000byCluster YessynonymousGLeu [L]3584
contig referenceALeu [L]3584
279407991845 rs558576572 N.D.byCluster missenseGVal [V]1584
contig referenceCLeu [L]1584
279408001839 rs1310133249 N.D. -1582
279408041840 rs1245635112 N.D. missenseAAsp [D]2582
contig referenceTVal [V]2582
279408051839 rs759102004 0.000 missenseAIle [I]1582
contig referenceGVal [V]1582
279442241836 rs771734880 0.000byFreq missenseGVal [V]1581
synonymousTLeu [L]1581
contig referenceCLeu [L]1581
279442301830 rs760262894 0.000byFreq missenseGAla [A]1579
contig referenceAThr [T]1579
279442311829 rs1326553377 N.D. synonymousTIle [I]3578
contig referenceCIle [I]3578
279442321828 rs1242072375 N.D. missenseGSer [S]2578
contig referenceTIle [I]2578
279442331827 rs1429378665 N.D. missenseGVal [V]1578
contig referenceAIle [I]1578
279442341826 rs1053055648 N.D. synonymousGGly [G]3577
contig referenceTGly [G]3577
279442351825 rs763869311 0.000 missenseAAsp [D]2577
missenseTVal [V]2577
contig referenceGGly [G]2577
279442371822 rs764467270 0.000 frame shift(20bp)Trp [W]2578
contig reference-Ile [I]2578
279442371823 rs1198624354 N.D. synonymousAGly [G]3576
contig referenceGGly [G]3576
279442391821 rs776147159 0.000byFreq missenseAArg [R]1576
missenseTTrp [W]1576
contig referenceGGly [G]1576
279442401820 rs761710990 0.000 missenseGGln [Q]3575
synonymousTHis [H]3575
contig referenceCHis [H]3575
279442441816 rs764996710 0.000 missenseGArg [R]2574
contig referenceAGln [Q]2574
279442491811 rs146489459 0.000byClusterbyFreq YessynonymousTVal [V]3572
contig referenceGVal [V]3572
279442491810 rs774587003 0.000 frame shift-Glu [E]2572
contig referenceTGVal [V]2572
279442511809 rs1446529448 N.D. missenseTLeu [L]1572
contig referenceGVal [V]1572
279442521808 rs190201131 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAVal [V]3571
contig referenceGVal [V]3571
279442531807 rs913973145 N.D. missenseGGly [G]2571
contig referenceTVal [V]2571
279442561804 rs140569195 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]2570
contig referenceGArg [R]2570
279442571803 rs751718086 0.000byFreq missenseTTrp [W]1570
contig referenceCArg [R]1570
279442581802 rs975605459 N.D. synonymousAArg [R]3569
contig referenceGArg [R]3569
279442591801 rs755007652 0.000byFreq missenseAGln [Q]2569
contig referenceGArg [R]2569
279442601800 rs781516128 0.000byFreq missenseTTrp [W]1569
contig referenceCArg [R]1569
279442621798 rs1476904862 N.D. missenseAGlu [E]2568
missenseTVal [V]2568
contig referenceCAla [A]2568
279442631797 rs1371005722 N.D. missenseAThr [T]1568
contig referenceGAla [A]1568
279442651795 rs1448919932 N.D. missenseALys [K]2567
contig referenceGArg [R]2567
279442681792 rs1160268116 N.D. missenseGArg [R]2566
contig referenceALys [K]2566
279442761784 rs1385532214 N.D. synonymousTAla [A]3563
contig referenceCAla [A]3563
279442811779 rs377571665 0.000byCluster YesmissenseAIle [I]1562
contig referenceGVal [V]1562
279442841776 rs1315536592 N.D. missenseCHis [H]1561
contig referenceAAsn [N]1561
279442851775 rs370485050 0.000byClusterbyFreq YessynonymousAAla [A]3560
synonymousCAla [A]3560
synonymousTAla [A]3560
contig referenceGAla [A]3560
279442861774 rs749814633 0.000byFreq missenseAGlu [E]2560
missenseTVal [V]2560
contig referenceCAla [A]2560
279442871773 rs773935799 0.000byFreq missenseAThr [T]1560
contig referenceGAla [A]1560
279442881772 rs182410357 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTIle [I]3559
contig referenceCIle [I]3559
279442961764 rs145742175 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT1557
missenseALys [K]1557
contig referenceGGlu [E]1557
279442971763 rs761407359 0.000byFreq synonymousAAla [A]3556
synonymousGAla [A]3556
synonymousTAla [A]3556
contig referenceCAla [A]3556
279442991761 rs1350513257 N.D. missenseAThr [T]1556
contig referenceGAla [A]1556
279443001759 rs970393099 N.D.byCluster frame shiftCSer [S]2556
contig reference-Ala [A]2556
279443011759 rs762723536 0.000 missenseTVal [V]2555
contig referenceCAla [A]2555
279443021758 rs1294127436 N.D. missenseCPro [P]1555
contig referenceGAla [A]1555
279443091750 rs762327505 0.000 frame shiftTAAAAsn [N]2552
contig reference-Lys [K]2552
279443111749 rs138205369 0.001byClusterbyFreqWith1000GenomeData0.0018 YesmissenseCGln [Q]1552
contig referenceALys [K]1552
279443141746 rs759122067 0.000byFreq missenseAIle [I]1551
contig referenceCLeu [L]1551
279443211739 rs759708377 0.000 missenseAGln [Q]3548
synonymousTHis [H]3548
contig referenceCHis [H]3548
279443331727 rs1278442654 N.D. synonymousGLeu [L]3544
contig referenceTLeu [L]3544
279443371723 rs1183661801 N.D. missenseCThr [T]2543
contig referenceTIle [I]2543
279443381722 rs373347678 0.000byCluster YesmissenseGVal [V]1543
missenseTLeu [L]1543
contig referenceAIle [I]1543
279443411718 rs1469506495 N.D. frame shiftTG3542
contig reference-Asn [N]3542
279443461714 rs199836959 0.000byClusterbyFreq YesmissenseCThr [T]2540
contig referenceTMet [M]2540
279443501710 rs1237810719 N.D. missenseGVal [V]1539
contig referenceAIle [I]1539
279443511709 rs920398574 N.D. synonymousGPro [P]3538
contig referenceAPro [P]3538
279443521708 rs756334233 0.000byFreq missenseAGln [Q]2538
missenseGArg [R]2538
contig referenceCPro [P]