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dbSNP

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SNP linked to Gene (geneID:3757) 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): 8
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_172057.2minus strandNP_742054.1reverseNT_007933.16GRCh38.p7<- currently shown
NM_172056.2minus strandNP_742053.1reverseNT_007933.16GRCh38.p7View snp on GeneModel
NM_000238.3minus strandNP_000229.1reverseNT_007933.16GRCh38.p7View snp on GeneModel
XM_017012196.1minus strandXP_016867685.1reverseNT_007933.16GRCh38.p7View snp on GeneModel
XM_017012195.1minus strandXP_016867684.1reverseNT_007933.16GRCh38.p7View snp on GeneModel
XM_011516186.2minus strandXP_011514488.1reverseNT_007933.16GRCh38.p7View snp on GeneModel
XM_011516185.2minus strandXP_011514487.1reverseNT_007933.16GRCh38.p7View snp on GeneModel
NM_001204798.1minus strandNP_001191727.1reverseNT_007933.16GRCh38.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_007933.16NM_172057.2NP_742054.1reverseminus strand1127, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Clinically
Associated
Clinical
Significance
Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
1509453743872 rs562609392 0.000With1000GenomeData0.0002 synonymousAPro [P]31157
contig referenceGPro [P]31157
1509453743871 rs794728474 N.D. Uncertain significanceframe shiftCGln [Q]21159
contig reference-Ser [S]21159
1509453753871 rs143167166 0.000byClusterbyFreq Uncertain significancemissenseTLeu [L]21157
contig referenceCPro [P]21157
1509453803866 rs750145862 0.000 synonymousASer [S]31155
contig referenceGSer [S]31155
1509453813865 rs867402580 N.D.byCluster missenseTLeu [L]21155
contig referenceCSer [S]21155
1509453853861 rs199473548 N.D. untestedmissenseASer [S]11154
contig referenceGGly [G]11154
1509453863860 rs755599756 0.000 synonymousTHis [H]31153
contig referenceCHis [H]31153
1509453883858 rs199473035 0.000byClusterbyFreq untestedmissenseTTyr [Y]11153
contig referenceCHis [H]11153
1509453923854 rs531426751 0.000With1000GenomeData0.0002 missenseAGln [Q]31151
contig referenceCHis [H]31151
1509453973849 rs754883792 0.001byFreq missenseAMet [M]11150
contig referenceCLeu [L]11150
1509453983848 rs758576235 N.D. synonymousGPro [P]31149
contig referenceCPro [P]31149
1509454093837 rs778879572 0.001byFreq Uncertain significancemissenseTSer [S]11146
contig referenceAThr [T]11146
1509454153831 rs199473034 N.D.byCluster untestedmissenseAThr [T]11144
contig referenceGAla [A]11144
1509454163830 rs747931464 0.000 synonymousTGly [G]31143
contig referenceGGly [G]31143
1509454283818 rs376137640 0.000byClusterbyFreq synonymousAPro [P]31139
contig referenceGPro [P]31139
1509454293817 rs886062086 N.D. Uncertain significancemissenseTLeu [L]21139
contig referenceCPro [P]21139
1509454413805 rs199473547 N.D. untestedmissenseAHis [H]21135
contig referenceGArg [R]21135
1509454423804 rs781369850 0.000 missenseTCys [C]11135
contig referenceCArg [R]11135
1509454453801 rs965259777 N.D. nonsenseT11134
contig referenceCArg [R]11134
1509454463800 rs746102465 0.000 synonymousGThr [T]31133
contig referenceAThr [T]31133
1509454513795 rs786205422 N.D.byCluster Uncertain significancemissenseGAla [A]11132
contig referenceCPro [P]11132
1509454533793 rs370558996 0.000byCluster missenseTVal [V]21131
contig referenceGGly [G]21131
1509454553791 rs41313068 0.000byClusterbyFreq synonymousGGlu [E]31130
contig referenceAGlu [E]31130
1509454783768 rs749750309 0.000 missenseAArg [R]11123
contig referenceGGly [G]11123
1509454793767 rs371473271 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAPro [P]31122
contig referenceGPro [P]31122
1509454803766 rs531460655 0.001byClusterbyFreq Uncertain significancemissenseTLeu [L]21122
contig referenceCPro [P]21122
1509454853761 rs567457615 0.000With1000GenomeData0.0002 synonymousCLeu [L]31120
contig referenceGLeu [L]31120
1509454903756 rs199473033 N.D. untestedmissenseCGln [Q]11119
contig referenceGGlu [E]11119
1509454953751 rs730880119 0.000byCluster Uncertain significancemissenseATyr [Y]21117
contig referenceGCys [C]21117
1509454973749 rs376180501 0.000byClusterbyFreq Benign synonymousAAla [A]31116
synonymousTAla [A]31116
contig referenceGAla [A]31116
1509454983748 rs199473032 0.000byCluster untestedmissenseTVal [V]21116
contig referenceCAla [A]21116
1509455013745 rs753274350 0.000 missenseCThr [T]21115
contig referenceTMet [M]21115
1509455023744 rs199473546 N.D.byCluster Uncertain significancemissenseGVal [V]11115
contig referenceAMet [M]11115
1509468783730 rs758947934 0.000 missenseCPro [P]21110
contig referenceAGln [Q]21110
1509468833725 rs764749875 0.000 synonymousGLeu [L]31108
contig referenceTLeu [L]31108
1509468853723 rs199473031 0.000byClusterbyFreq untestedmissenseGVal [V]11108
contig referenceCLeu [L]11108
1509468863722 rs189457419 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]31107
contig referenceGSer [S]31107
1509468893719 rs751302925 0.000 synonymousTAsp [D]31106
contig referenceCAsp [D]31106
1509468933715 rs757147615 0.000 missenseCSer [S]21105
contig referenceTLeu [L]21105
1509468963712 rs780113151 0.000 missenseTIle [I]21104
contig referenceCThr [T]21104
1509468973711 rs868543412 N.D. missenseCPro [P]11104
contig referenceAThr [T]11104
1509468993709 rs754108936 0.000 missenseCPro [P]21103
contig referenceTLeu [L]21103
1509469023706 rs794728405 N.D.byCluster Uncertain significancemissenseTIle [I]21102
contig referenceCThr [T]21102
1509469043704 rs755065620 0.000 synonymousTPro [P]31101
contig referenceCPro [P]31101
1509469053703 rs199473041 N.D. untestedmissenseTLeu [L]21101
contig referenceCPro [P]21101
1509469183690 rs199473030 0.000byClusterWith1000GenomeData0.0002 untestedmissenseAIle [I]11097
contig referenceGVal [V]11097
1509469193689 rs748606749 0.000byFreq synonymousTPro [P]31096
contig referenceCPro [P]31096
1509469273681 rs772691915 0.000 missenseAMet [M]11094
contig referenceCLeu [L]11094
1509469283680 rs202198564 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAPro [P]31093
contig referenceGPro [P]31093
1509469293679 rs199473545 0.000byClusterbyFreq Uncertain significancemissenseTLeu [L]21093
contig referenceCPro [P]21093
1509469313677 rs776100082 0.000 synonymousTSer [S]31092
contig referenceCSer [S]31092
1509469323676 rs147510453 0.000byCluster missenseTPhe [F]21092
contig referenceCSer [S]21092
1509469383670 rs769228898 0.000 missenseTPhe [F]21090
contig referenceCSer [S]21090
1509469413667 rs1009829215 N.D. missenseTIle [I]21089
contig referenceCThr [T]21089
1509469473661 rs369564588 N.D. missenseAAsp [D]21087
contig referenceGGly [G]21087
1509469483660 rs1020610826 N.D. missenseASer [S]11087
contig referenceGGly [G]11087
1509469523656 rs1005325992 N.D. synonymousTGly [G]31085
contig referenceGGly [G]31085
1509469553653 rs753375396 0.000 synonymousAPro [P]31084
synonymousTPro [P]31084
contig referenceGPro [P]31084
1509469553652 rs794728473 N.D. Pathogenicframe shiftCAla [A]21086
contig reference-Pro [P]21086
1509469563652 rs762510312 0.000byFreq missenseGArg [R]21084
missenseTLeu [L]21084
contig referenceCPro [P]21084
1509469603648 rs751559990 0.000byFreq Uncertain significancemissenseGAla [A]11083
contig referenceAThr [T]11083
1509469703638 rs761462107 0.000byFreq synonymousCSer [S]31079
contig referenceTSer [S]31079
1509469713637 rs767372791 0.000byFreq missenseAAsn [N]21079
contig referenceGSer [S]21079
1509469733635 rs753938571 0.000 synonymousTTyr [Y]31078
contig referenceCTyr [Y]31078
1509469743634 rs199473029 N.D. untestedmissenseGCys [C]21078
contig referenceATyr [Y]21078
1509469763632 rs755261687 0.000 synonymousTAla [A]31077
contig referenceCAla [A]31077
1509469773631 rs779333020 0.000 missenseAAsp [D]21077
contig referenceCAla [A]21077
1509469783630 rs201382073 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]11077
contig referenceGAla [A]11077
1509469793629 rs41312087 0.000byClusterbyFreq synonymousTPro [P]31076
contig referenceCPro [P]31076
1509469823626 rs778119775 0.000 synonymousAPro [P]31075
contig referenceGPro [P]31075
1509469833625 rs199473028 0.000byClusterbyFreqWith1000GenomeData0.0002 Uncertain significancemissenseTLeu [L]21075
contig referenceCPro [P]21075
1509469893619 rs1029745712 N.D. missenseGArg [R]21073
contig referenceTLeu [L]21073
1509469913617 rs200182770 0.001byClusterbyFreqWith1000GenomeData0.0002 Benign synonymousAThr [T]31072
contig referenceGThr [T]31072
1509469923616 rs781624566 0.000byFreq Uncertain significancemissenseTMet [M]21072
contig referenceCThr [T]21072
1509469963612 rs555797304 0.000With1000GenomeData0.0002 missenseGVal [V]11071
contig referenceAMet [M]11071
1509470003608 rs769425141 0.000 missenseTSer [S]31069
contig referenceGArg [R]31069
1509470043604 rs151031345 0.000byClusterbyFreqWith1000GenomeData0.0002 untestedmissenseGArg [R]21068
contig referenceAGln [Q]21068
1509470113597 rs199473027 N.D. untestedmissenseGVal [V]11066
contig referenceCLeu [L]11066
1509470183590 rs541394173 0.000With1000GenomeData0.0002 synonymousTVal [V]31063
contig referenceCVal [V]31063
1509470203588 rs139722868 0.000byCluster missenseCLeu [L]11063
contig referenceGVal [V]11063
1509470213587 rs774112063 0.000 synonymousCThr [T]31062
contig referenceTThr [T]31062
1509470223586 rs761811244 0.000 missenseTIle [I]21062
contig referenceCThr [T]21062
1509470293579 rs767156792 0.000byFreq missenseGVal [V]11060
contig referenceAMet [M]11060
1509470303578 rs773125785 0.000 missenseGGlu [E]31059
contig referenceCAsp [D]31059
1509470313577 rs553337493 N.D. missenseCAla [A]21059
contig referenceAAsp [D]21059
1509470343574 rs41313752 0.021byCluster untestedmissenseAGlu [E]21058
missenseAGlu [E]21058
contig referenceCAla [A]21058
contig referenceCAla [A]21058
1509470353573 rs555269990 0.000With1000GenomeData0.0002 missenseAThr [T]11058
contig referenceGAla [A]11058
1509470373571 rs765524161 0.000 missenseAAsn [N]21057
contig referenceGSer [S]21057
1509470433565 rs41307270 0.000byClusterbyFreqWith1000GenomeData0.0004 Uncertain significancemissenseAGln [Q]21055
missenseAGln [Q]21055
contig referenceGArg [R]21055
contig referenceGArg [R]21055
1509470443564 rs541259035 0.000byFreqWith1000GenomeData0.0002 missenseGGly [G]11055
missenseTTrp [W]11055
contig referenceCArg [R]11055
1509470453563 rs368701315 0.000byClusterbyFreq synonymousGThr [T]31054
contig referenceCThr [T]31054
1509473333548 rs999440318 N.D. synonymousTLeu [L]31049
contig referenceCLeu [L]31049
1509473343547 rs199473026 N.D. untestedmissenseCPro [P]21049
contig referenceTLeu [L]21049
1509473403541 rs36210421 0.017byClusterbyFreqWith1000GenomeData0.0090 Uncertain significancemissenseTLeu [L]21047
missenseTLeu [L]21047
contig referenceGArg [R]21047
contig referenceGArg [R]21047
1509473413540 rs377095107 0.000byCluster Uncertain significancemissenseTCys [C]11047
contig referenceCArg [R]11047
1509473443537 rs794728472 N.D. Pathogenicframe shift-Ser [S]11046
contig referenceCGln [Q]11046
1509473473534 rs199473025 0.000byClusterbyFreq untestedmissenseTPhe [F]11045
contig referenceCLeu [L]11045
1509473483533 rs577778837 0.000With1000GenomeData0.0002 synonymousTAla [A]31044
contig referenceCAla [A]31044
1509473513513 rs794728471 N.D. Pathogenicframe shiftCAGln [Q]11038
contig reference(18bp)Val [V]11038
1509473523529 rs962739782 N.D. missenseTVal [V]21043
contig referenceAAsp [D]21043
1509473553526 rs886039064 N.D. Likely pathogenicmissenseCPro [P]21042
contig referenceTLeu [L]21042
1509473603521 rs543615478 0.001byFreqWith1000GenomeData0.0002 synonymousTSer [S]31040
contig referenceCSer [S]31040
1509473613520 rs794728404 N.D. Uncertain significancemissenseAAsn [N]21040
contig referenceGSer [S]21040
1509473623519 rs199473024 0.000byClusterbyFreq untestedmissenseGGly [G]11040
contig referenceASer [S]11040
1509473673513 rs794728470 N.D. Pathogenicframe shift(8bp)Gly [G]11038
contig reference-Val [V]11038
1509473683513 rs199473544 0.001byClusterbyFreq Uncertain significancemissenseAMet [M]11038
contig referenceGVal [V]11038
1509473693512 rs200799870 0.000byClusterbyFreqWith1000GenomeData0.0014 othersynonymousTAsp [D]31037
contig referenceCAsp [D]31037
1509473713510 rs199473023 N.D.byCluster untestedmissenseAAsn [N]11037
contig referenceGAsp [D]11037
1509473713500 rs794728466 N.D. Pathogenicframe shift-Arg [R]31034
contig reference(11bp)Pro [P]31034
1509473723509 rs373414022 0.000byClusterbyFreq synonymousTGly [G]31036
contig referenceCGly [G]31036
1509473723508 rs794728469 N.D.byCluster Likely pathogenicGGGGly [G]21036
GGGGly [G]21036
1509473733508 rs199473022 0.000byCluster untestedmissenseAAsp [D]21036
contig referenceGGly [G]21036
1509473733508 rs794728505 N.D. Pathogenicframe shift-Ala [A]21036
contig referenceGGly [G]21036
1509473763505 rs761933920 0.000 missenseAGln [Q]21035
contig referenceGArg [R]21035
1509473773504 rs199473543 0.000byCluster untestedmissenseTTrp [W]11035
contig referenceCArg [R]11035
1509473773504 rs794728468 N.D. Pathogenicframe shift-Gly [G]11035
contig referenceCArg [R]11035
1509473803500 rs794728467 N.D.byCluster Likely pathogenicframe shiftGCGGAla [A]31034
frame shiftGCGGAla [A]31034
frame shiftGGCGGGly [G]31034
frame shiftGGCGGGly [G]31034
contig reference-Pro [P]31034
contig reference-Pro [P]31034
1509473813500 rs912722561 N.D. synonymousTArg [R]31033
contig referenceGArg [R]31033
1509473823499 rs750858069 0.000 missenseAGln [Q]21033
contig referenceGArg [R]21033
1509473833498 rs199473021 0.000byClusterbyFreq untestedmissenseTTrp [W]11033
contig referenceCArg [R]11033
1509473853496 rs199473020 0.000byClusterWith1000GenomeData0.0002 untestedmissenseCPro [P]21032
contig referenceGArg [R]21032
1509473863495 rs373394254 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTTrp [W]11032
contig referenceCArg [R]11032
1509473863495 rs864622309 N.D. Pathogenicframe shift-Gly [G]11032
contig referenceCArg [R]11032
1509473903491 rs778604642 0.001byFreq synonymousCPro [P]31030
contig referenceGPro [P]31030
1509473913490 rs904066540 N.D. missenseTLeu [L]21030
contig referenceCPro [P]21030
1509473923489 rs78976657 N.D. missenseTSer [S]11030
contig referenceCPro [P]11030
1509473973484 rs1001134650 N.D. missenseTPhe [F]21028
contig referenceCSer [S]21028
1509474003480 rs794728465 N.D. Pathogenicframe shiftCPro [P]11027
contig reference-Leu [L]11027
1509474013480 rs794728346 N.D. Likely benignmissenseAIle [I]11027
contig referenceCLeu [L]11027
1509474033478 rs41307271 0.154byClusterbyFreq missenseGArg [R]21026
missenseTLeu [L]21026
contig referenceCPro [P]21026
1509474043477 rs75377064 N.D. missenseTSer [S]11026
contig referenceCPro [P]11026
1509474053476 rs76547432 0.000byClusterWith1000GenomeData0.0002 synonymousTIle [I]31025
contig referenceCIle [I]31025
1509474083473 rs781274793 0.000byFreq synonymousTAsn [N]31024
contig referenceCAsn [N]31024
1509474143467 rs74384169 N.D. synonymousTLeu [L]31022
contig referenceCLeu [L]31022
1509474173464 rs199767579 0.001byClusterbyFreqWith1000GenomeData0.0020 synonymousTSer [S]31021
contig referenceCSer [S]31021
1509474203461 rs864622174 N.D. Pathogenicframe shift-Ala [A]31021
contig referenceCSer [S]31021
1509474213460 rs41313761 0.024byCluster missenseTLeu [L]21020
contig referenceCPro [P]21020
1509474223459 rs41307274 0.058byClusterbyFreq Uncertain significancemissenseTSer [S]11020
contig referenceCPro [P]11020
1509474233458 rs41307277 0.135byClusterbyFreq synonymousTThr [T]31019
contig referenceCThr [T]31019
1509474273454 rs866657878 N.D.byCluster missenseTLeu [L]21018
contig referenceCPro [P]21018
1509474283453 rs41313764 0.024byCluster Uncertain significancemissenseGAla [A]11018
contig referenceCPro [P]11018
1509474293452 rs75488587 N.D.byCluster synonymousAAla [A]31017
contig referenceCAla [A]31017
1509474313450 rs950543448 N.D. missenseTSer [S]11017
contig referenceGAla [A]11017
1509474323449 rs770968269 0.001byFreq synonymousTPro [P]31016
contig referenceCPro [P]31016
1509474333448 rs41313074 0.048byClusterbyFreq missenseTLeu [L]21016
contig referenceCPro [P]21016
1509474343447 rs41307280 0.035byClusterbyFreq missenseTSer [S]11016
contig referenceCPro [P]11016
1509474393442 rs932335536 N.D. missenseAGln [Q]21014
contig referenceGArg [R]21014
1509474403441 rs794728403 N.D.byCluster PathogenicnonsenseT11014
contig referenceCArg [R]11014
1509474483432 rs796505077 N.D. frame shiftGGly [G]11011
contig reference-Glu [E]11011
1509474593422 rs781317328 0.000 synonymousTArg [R]31007
contig referenceCArg [R]31007
1509474603421 rs199473542 0.000byCluster untestedmissenseAHis [H]21007
missenseTLeu [L]21007
contig referenceGArg [R]21007
1509474633418 rs774570498 0.000 missenseCAla [A]21006
contig referenceGGly [G]21006
1509474633418 rs794728504 N.D. Pathogenicframe shift-Ala [A]21006
contig referenceGGly [G]21006
1509474663415 rs199473019 0.000byCluster untestedmissenseAGln [Q]21005
contig referenceGArg [R]21005
1509474673414 rs1016101226 N.D. missenseTTrp [W]11005
contig referenceCArg [R]11005
1509474693412 rs772094886 0.000byFreq missenseCThr [T]21004
missenseTIle [I]21004
contig referenceGSer [S]21004
1509474733408 rs794728402 N.D.byCluster Likely pathogenicmissenseAAsn [N]11003
missenseAAsn [N]11003
contig referenceGAsp [D]11003
contig referenceGAsp [D]11003
1509474773404 rs121912509 N.D.byCluster PathogenicnonsenseA31001
contig referenceGTrp [W]31001
1509474783403 rs794728401 N.D. PathogenicnonsenseA21001
contig referenceGTrp [W]21001
1509474843397 rs974699160 N.D. missenseCThr [T]2999
contig referenceGSer [S]2999
1509474863395 rs368954514 0.000byClusterbyFreq Benign synonymousTPhe [F]3998
contig referenceCPhe [F]3998
1509474923389 rs766869051 0.000 synonymousTAsn [N]3996
contig referenceCAsn [N]3996
1509474933388 rs199473018 N.D. PathogenicmissenseTIle [I]2996
contig referenceAAsn [N]2996
1509475123369 rs754362735 0.000byFreq missenseAThr [T]1990
contig referenceGAla [A]1990
1509475123368 rs794728464 N.D. Pathogenicframe shiftAGGCArg [R]3990
contig reference-Ala [A]3990
1509475133368 rs759887868 0.001byFreq synonymousTGly [G]3989
contig referenceCGly [G]3989
1509476063366 rs777916154 0.000 missenseASer [S]1989
contig referenceGGly [G]1989
1509476093363 rs747237810 0.000 missenseGAla [A]1988
contig referenceTSer [S]1988
1509476103362 rs771002653 N.D. synonymousCLeu [L]3987
contig referenceGLeu [L]3987
1509476113360 rs748706373 0.000byClusterbyFreq Pathogenicframe shift-Val [V]1987
contig referenceCTLeu [L]1987
1509476173355 rs199473541 N.D. untestedmissenseGSer [S]2985
contig referenceAAsn [N]2985
1509476193353 rs776595927 0.000byCluster PathogenicsynonymousTCys [C]3984
contig referenceCCys [C]3984
1509476233349 rs149955375 0.000byClusterbyFreq othermissenseTIle [I]2983
contig referenceCThr [T]2983
1509476273345 rs569452580 0.000byClusterbyFreqWith1000GenomeData0.0004 Uncertain significancemissenseAAsn [N]1982
contig referenceGAsp [D]1982
1509476283344 rs374528441 0.000byCluster synonymousTSer [S]3981
contig referenceCSer [S]3981
1509476303342 rs76649554 0.001byClusterbyFreqWith1000GenomeData0.0002 Uncertain significancemissenseGGly [G]1981
contig referenceASer [S]1981
1509476353337 rs758587547 0.000byCluster missenseGArg [R]2979
contig referenceALys [K]2979
1509476393333 rs141117135 0.001byClusterbyFreq PathogenicnonsenseT1978
nonsenseT1978
contig referenceGGlu [E]1978
contig referenceGGlu [E]1978
1509476403332 rs761585108 0.000byFreq synonymousTCys [C]3977
contig referenceCCys [C]3977
1509476413331 rs767252448 0.000byFreq missenseTPhe [F]2977
contig referenceGCys [C]2977
1509476483324 rs967170401 N.D. nonsenseT1975
contig referenceGGlu [E]1975
1509476533318 rs794728463 N.D. Pathogenicframe shiftCCPro [P]1973
contig reference-Leu [L]1973
1509476653307 rs749873669 0.000 missenseAAsp [D]2969
contig referenceGGly [G]2969
1509476653307 rs794728459 N.D. Pathogenicframe shift-Val [V]2969
contig referenceGGly [G]2969
1509476673305 rs75005975 0.000byClusterbyFreqWith1000GenomeData0.0002 Benign synonymousAPro [P]3968
contig referenceGPro [P]3968
1509476683304 rs199473017 0.000byClusterbyFreq untestedmissenseTLeu [L]2968
contig referenceCPro [P]2968
1509476693303 rs753788508 0.000byCluster Uncertain significancemissenseGAla [A]1968
contig referenceCPro [P]1968
1509476703302 rs780481239 0.000byClusterbyFreq Likely benignsynonymousAPro [P]3967
synonymousTPro [P]3967
contig referenceGPro [P]3967
1509476703301 rs786204101 N.D. Pathogenicframe shiftCAla [A]2968
contig reference-Pro [P]2968
1509476713301 rs199473016 0.000byClusterbyFreqWith1000GenomeData0.0002 untestedmissenseTLeu [L]2967
contig referenceCPro [P]2967
1509476723300 rs1057450060 N.D. missenseTSer [S]1967
contig referenceCPro [P]1967
1509476743298 rs757398672 0.000 missenseCAla [A]2966
contig referenceAGlu [E]2966
1509476753297 rs781516287 0.000byFreq missenseALys [K]1966
contig referenceGGlu [E]1966
1509476783294 rs199473015 0.000byCluster untestedmissenseAArg [R]1965
contig referenceGGly [G]1965
1509476783293 rs794728462 N.D. Pathogenicframe shiftCArg [R]3965
contig reference-Gly [G]3965
1509476793293 rs769972412 0.000byFreq synonymousGPro [P]3964
synonymousTPro [P]3964
contig referenceCPro [P]3964
1509476803292 rs886427965 N.D. missenseGArg [R]2964
contig referenceCPro [P]2964
1509476813291 rs886062087 N.D. Uncertain significancemissenseGAla [A]1964
contig referenceCPro [P]1964
1509476823290 rs749814759 0.000byFreq synonymousTPro [P]3963
contig referenceCPro [P]3963
1509476843288 rs199473014 0.000byCluster untestedmissenseAThr [T]1963
contig referenceCPro [P]1963
1509476853287 rs774873967 0.000byFreq synonymousAArg [R]3962
contig referenceGArg [R]3962
1509476923280 rs199473013 N.D.byCluster untestedmissenseAAsn [N]2960
contig referenceGSer [S]2960
1509477033269 rs762312886 0.000 synonymousAVal [V]3956
contig referenceGVal [V]3956
1509477083264 rs199473012 0.000byClusterbyFreq Likely pathogenicmissenseGVal [V]1955
contig referenceCLeu [L]1955
1509477103262 rs772977598 0.000 missenseAHis [H]2954
contig referenceGArg [R]2954
1509477113261 rs141401803 0.000byClusterbyFreq Likely pathogenicmissenseTCys [C]1954
contig referenceCArg [R]1954
1509477143258 rs794728503 N.D. Pathogenicframe shift-Ser [S]1953
contig referenceCLeu [L]1953
1509477163256 rs765920319 0.000 missenseGArg [R]2952
contig referenceCPro [P]2952
1509477173255 rs753735368 0.000byFreq missenseTSer [S]1952
contig referenceCPro [P]1952
1509477243248 rs759492534 0.000 missenseGArg [R]3949
contig referenceCSer [S]3949
1509477283244 rs199473011 0.000byClusterbyFreq PathogenicmissenseAHis [H]2948
contig referenceGArg [R]2948
1509477293243 rs121912514 0.000byClusterbyFreq PathogenicmissenseASer [S]1948
missenseASer [S]1948
missenseTCys [C]1948
missenseTCys [C]1948
contig referenceCArg [R]1948
contig referenceCArg [R]1948
1509477363236 rs758278647 0.000 synonymousGGly [G]3945
contig referenceCGly [G]3945
1509477373235 rs781255319 0.000 missenseAAsp [D]2945
contig referenceGGly [G]2945
1509477443228 rs865810503 N.D.byCluster missenseAAsn [N]1943
contig referenceGAsp [D]1943
1509477593213 rs750668456 0.000 missenseAThr [T]1938
contig referenceCPro [P]1938
1509477613211 rs199473540 0.000byClusterbyFreq Uncertain significancemissenseAAsn [N]2937
contig referenceGSer [S]2937
1509477693203 rs780308005 0.000 synonymousTGly [G]3934
contig referenceCGly [G]3934
1509477733198 rs794728461 N.D. Pathogenicframe shiftALys [K]1933
contig reference-Ser [S]1933
1509477783194 rs200976506 0.000byClusterWith1000GenomeData0.0002 synonymousAPro [P]3931
contig referenceGPro [P]3931
1509477793193 rs749759697 0.000 missenseTLeu [L]2931
contig referenceCPro [P]2931
1509477793193 rs794728460 N.D. Pathogenicframe shift-Arg [R]2931
contig referenceCPro [P]2931
1509477823184 rs794728457 N.D. Pathogenicframe shift-Ala [A]2928
contig reference(7bp)Gly [G]2928
1509477833189 rs794728400 N.D. Uncertain significancemissenseCArg [R]1930
contig referenceASer [S]1930
1509477853186 rs794728458 N.D. Uncertain significanceframe shiftGGly [G]1929
contig reference-Glu [E]1929
1509477893183 rs769259008 0.000byFreq missenseAArg [R]1928
contig referenceGGly [G]1928
1509477903182 rs866768546 N.D. missenseTCys [C]3927
contig referenceGTrp [W]3927
1509477913181 rs794728399 N.D.byCluster PathogenicmissenseTLeu [L]2927
missenseTLeu [L]2927
contig referenceGTrp [W]2927
contig referenceGTrp [W]2927
1509477933179 rs898987242 N.D. synonymousAPro [P]3926
contig referenceGPro [P]3926
1509477943178 rs794728456 N.D. Pathogenicframe shift-Arg [R]2926
contig referenceCPro [P]2926
1509477943178 rs996063617 N.D. missenseTLeu [L]2926
contig referenceCPro [P]2926
1509477953176 rs794728455 N.D. Pathogenicframe shiftGAla [A]3926
contig reference-Pro [P]3926
1509477953177 rs899224669 N.D. missenseTSer [S]1926
contig referenceCPro [P]1926
1509477983174 rs199473010 0.000byClusterbyFreq untestedmissenseAArg [R]1925
contig referenceGGly [G]1925
1509477993173 rs748451039 0.000 synonymousAGly [G]3924
contig referenceGGly [G]3924
1509478003172 rs199473009 0.000byCluster PathogenicmissenseCAla [A]2924
missenseCAla [A]2924
contig referenceGGly [G]2924
contig referenceGGly [G]2924
1509478023170 rs557789224 0.000With1000GenomeData0.0002 synonymousAPro [P]3923
contig referenceGPro [P]3923
1509478033169 rs760408746 0.000 missenseTLeu [L]2923
contig referenceCPro [P]2923
1509478033169 rs794728454 N.D. Pathogenicframe shift-Arg [R]2923
contig referenceCPro [P]2923
1509478063166 rs199473439 N.D. untestedmissenseAGln [Q]2922
contig referenceGArg [R]2922
1509478073165 rs199473440 N.D.byCluster untestedmissenseTTrp [W]1922
contig referenceCArg [R]1922
1509478073165 rs794728453 N.D. Pathogenicframe shift-Gly [G]1922
contig referenceCArg [R]1922
1509478123160 rs199473670 0.000byClusterbyFreq untestedmissenseAGln [Q]2920
contig referenceGArg [R]2920
1509478133159 rs199473438 N.D.byCluster Uncertain significancemissenseGGly [G]1920
contig referenceCArg [R]1920
1509478213151 rs76420733 N.D.byCluster untestedmissenseTLeu [L]2917
contig referenceCPro [P]2917
1509478273145 rs199473437 N.D.byCluster untestedmissenseTVal [V]2915
contig referenceCAla [A]2915
1509478323140 rs776097223 0.002byFreq Uncertain significancesynonymousAAla [A]3913
contig referenceGAla [A]3913
1509478323139 rs794728502 N.D. Pathogenicframe shiftCGGGCArg [R]2915
contig reference-Ala [A]2915
1509478333139 rs77331749 N.D.byCluster PathogenicmissenseTVal [V]2913
contig referenceCAla [A]2913
1509478363136 rs958442820 N.D. missenseAGln [Q]2912
contig referenceGArg [R]2912
1509478373135 rs577847157 0.000byClusterWith1000GenomeData0.0002 Uncertain significancemissenseTTrp [W]1912
contig referenceCArg [R]1912
1509478383133 rs794728452 N.D. Pathogenicframe shiftGGAla [A]2912
contig reference-Arg [R]2912
1509478393133 rs794728451 N.D. Pathogenicframe shift-Ala [A]2911
contig referenceGGly [G]2911
1509478413131 rs916754925 N.D. synonymousAPro [P]3910
contig referenceGPro [P]3910
1509478423130 rs199473436 N.D.byCluster untestedmissenseTLeu [L]2910
contig referenceCPro [P]2910
1509478423129 rs794728449 N.D.byCluster Pathogenicframe shiftGGGGCArg [R]1910
contig reference-Pro [P]1910
1509478443128 rs794728450 N.D. Pathogenicframe shift-Arg [R]3910
contig referenceGPro [P]3910
1509478443128 rs1038071346 N.D. synonymousTGly [G]3909
contig referenceGGly [G]3909
1509478493123 rs765154236 0.000 synonymousCLeu [L]1908
contig referenceTLeu [L]1908
1509478523120 rs752686806 0.000byCluster Uncertain significancemissenseAThr [T]1907
missenseTSer [S]1907
contig referenceGAla [A]1907
1509478543118 rs199473435 N.D. Uncertain significancemissenseTLeu [L]2906
contig referenceCSer [S]2906
1509478603112 rs794727044 N.D. Uncertain significancemissenseTVal [V]2904
contig referenceAGlu [E]2904
1509478643108 rs199473669 0.000byClusterbyFreq Uncertain significancemissenseAArg [R]1903
contig referenceGGly [G]1903
1509484453092 rs758917587 0.000byFreq missenseCAsn [N]3897
synonymousALys [K]3897
contig referenceGLys [K]3897
1509484453091 rs762305602 0.000byFreq frame shiftCAsn [N]2897
contig reference-Lys [K]2897
1509484453091 rs794728448 N.D. Pathogenicframe shiftCThr [T]2897
contig referenceAGLys [K]2897
1509484463091 rs1805123 0.304byClusterbyFreqwithHapMapFreqWith1000GenomeData0.1362 Uncertain significancemissenseCThr [T]2897
missenseCThr [T]2897
missenseCThr [T]2897
missenseCThr [T]2897
contig referenceALys [K]2897
contig referenceALys [K]2897
contig referenceALys [K]2897
contig referenceALys [K]2897
1509484463090 rs767910122 0.000byFreq frame shiftCGGACThr [T]1897
contig reference-Lys [K]1897
1509484493088 rs757676104 0.000 missenseGGly [G]2896
contig referenceAAsp [D]2896
1509484513086 rs376008424 0.000byCluster synonymousTThr [T]3895
contig referenceGThr [T]3895
1509484513085 rs794728447 N.D. Pathogenicframe shiftCCArg [R]2896
contig reference-Asp [D]2896
1509484523085 rs199473434 0.000byClusterbyFreqWith1000GenomeData0.0002 untestedmissenseGArg [R]2895
contig referenceCThr [T]2895
1509484523084 rs773546753 0.000byClusterbyFreq Uncertain significance(21bp) [cds-indel]1894
GGCGCA [RR]1894
1509484553082 rs199473668 0.000byClusterbyFreq PathogenicmissenseAHis [H]2894
contig referenceGArg [R]2894
1509484563081 rs199473433 0.000byCluster PathogenicmissenseTCys [C]1894
contig referenceCArg [R]1894
1509484613076 rs774216337 0.000 missenseAHis [H]2892
contig referenceGArg [R]2892
1509484623075 rs201627778 0.001byClusterbyFreqWith1000GenomeData0.0002 Uncertain significancemissenseTCys [C]1892
contig referenceCArg [R]1892
1509484633074 rs776954605 0.000byFreq synonymousTPhe [F]3891
contig referenceCPhe [F]3891
1509484663071 rs759861732 0.000 synonymousGSer [S]3890
contig referenceCSer [S]3890
1509484713066 rs765427343 0.000byFreq Uncertain significancemissenseGVal [V]1889
contig referenceTLeu [L]1889
1509484763061 rs199473432 0.000byCluster Uncertain significancemissenseAHis [H]2887
contig referenceGArg [R]2887
1509484773060 rs140279503 0.000byClusterbyFreq Uncertain significancemissenseTCys [C]1887
contig referenceCArg [R]1887
1509484773052 rs766474899 0.000 -2884
1509484783059 rs757549384 0.000 synonymousALys [K]3886
contig referenceGLys [K]3886
1509484823055 rs202194495 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]2885
missenseCPro [P]2885
contig referenceGArg [R]2885
1509484833054 rs143512106 0.001byClusterbyFreq Uncertain significancemissenseTCys [C]1885
contig referenceCArg [R]1885
1509484883049 rs748821862 0.000byFreq missenseAGln [Q]2883
contig referenceGArg [R]2883
1509484893048 rs201765446 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTTrp [W]1883
contig referenceCArg [R]1883
1509485013036 rs199473040 N.D. untestedmissenseCArg [R]1879
contig referenceGGly [G]1879
1509485113026 rs147980211 0.000byClusterbyFreq synonymousAThr [T]3875
contig referenceGThr [T]3875
1509485123025 rs140743924 0.000byClusterbyFreq untestedmissenseTMet [M]2875
contig referenceCThr [T]2875
1509485193018 rs41314354 0.000byClusterbyFreqWith1000GenomeData0.0010 untestedmissenseASer [S]1873
missenseASer [S]1873
contig referenceGGly [G]1873
contig referenceGGly [G]1873
1509485203017 rs374296728 0.000byClusterbyFreq synonymousTPro [P]3872
contig referenceCPro [P]3872
1509485253012 rs986136917 N.D. missenseGAla [A]1871
contig referenceTSer [S]1871
1509485293008 rs199828796 0.000byClusterbyFreqWith1000GenomeData0.0002 Benign synonymousAPro [P]3869
contig referenceGPro [P]3869
1509485303007 rs763031434 0.000 Uncertain significancemissenseTLeu [L]2869
contig referenceCPro [P]2869
1509485323005 rs764083249 0.000 synonymousTIle [I]3868
contig referenceCIle [I]3868
1509485363001 rs752020408 0.000byFreq missenseCThr [T]2867
contig referenceTMet [M]2867
1509485382999 rs906593827 N.D. synonymousTAsn [N]3866
contig referenceCAsn [N]3866
1509485412996 rs762327995 0.000byFreq Likely benignsynonymousTThr [T]3865
contig referenceCThr [T]3865
1509485422995 rs768059097 0.000 missenseGSer [S]2865
contig referenceCThr [T]2865
1509488572992 rs199473008 N.D. untestedmissenseGGly [G]2864
contig referenceAAsp [D]2864
1509488592990 rs1036535206 N.D. synonymousGArg [R]3863
contig referenceAArg [R]3863
1509488602989 rs939435672 N.D. missenseAGln [Q]2863
contig referenceGArg [R]2863
1509488612988 rs773724817 0.000 PathogenicnonsenseT1863
contig referenceCArg [R]1863
1509488662983 rs121912513 N.D.byCluster PathogenicmissenseCThr [T]2861
missenseCThr [T]2861
missenseGSer [S]2861
missenseGSer [S]2861
missenseTIle [I]2861
missenseTIle [I]2861
contig referenceAAsn [N]2861
contig referenceAAsn [N]2861
1509488672982 rs199473007 N.D. untestedmissenseCHis [H]1861
contig referenceAAsn [N]1861
1509488722977 rs794728396 N.D. Likely pathogenicmissenseTIle [I]2859
contig referenceCThr [T]2859
1509488752974 rs199473539 N.D. untestedmissenseCThr [T]2858
contig referenceTIle [I]2858
1509488762973 rs761038306 0.000 missenseGVal [V]1858
contig referenceAIle [I]1858
1509488862963 rs897540177 N.D. synonymousTSer [S]3854
contig referenceCSer [S]3854
1509489002949 rs1036885088 N.D. missenseAAsn [N]1850
contig referenceGAsp [D]1850
1509489012948 rs543184784 0.000byFreqWith1000GenomeData0.0004 synonymousTSer [S]3849
contig referenceCSer [S]3849
1509489072942 rs866263680 N.D. missenseTAsp [D]3847
contig referenceGGlu [E]3847
1509489102939 rs753483535 0.000 synonymousCPro [P]3846
contig referenceTPro [P]3846
1509489122937 rs199473006 0.000byCluster Likely pathogenicmissenseAThr [T]1846
missenseAThr [T]1846
missenseAThr [T]1846
missenseGAla [A]1846
missenseGAla [A]1846
missenseGAla [A]1846
missenseTSer [S]1846
missenseTSer [S]1846
missenseTSer [S]1846
contig referenceCPro [P]1846
contig referenceCPro [P]1846
contig referenceCPro [P]1846
1509489132936 rs111531831 N.D. synonymousTTyr [Y]3845
contig referenceCTyr [Y]3845
1509489182931 rs754565340 0.000 missenseGVal [V]1844
contig referenceAMet [M]1844
1509489202929 rs559217960 0.000With1000GenomeData0.0002 missenseTVal [V]2843
contig referenceAAsp [D]2843
1509489302919 rs752253646 0.000 missenseCGln [Q]1840
contig referenceGGlu [E]1840
1509489382911 rs199473004 N.D. PathogenicmissenseGGly [G]2837
contig referenceAAsp [D]2837
1509489392910 rs199473005 N.D.byCluster Likely pathogenicmissenseAAsn [N]1837
missenseAAsn [N]1837
missenseTTyr [Y]1837
missenseTTyr [Y]1837
contig referenceGAsp [D]1837
contig referenceGAsp [D]1837
1509489402909 rs139295242 0.000byClusterbyFreq synonymousTAsp [D]3836
contig referenceCAsp [D]3836
1509489442905 rs794728395 N.D. Likely pathogenicmissenseAGln [Q]2835
contig referenceGArg [R]2835
1509489452904 rs199473003 N.D. untestedmissenseTTrp [W]1835
contig referenceCArg [R]1835
1509489472902 rs758040682 0.000 missenseGArg [R]2834
contig referenceAHis [H]2834
1509489542895 rs794728393 N.D. PathogenicnonsenseT1832
contig referenceALys [K]1832
1509489602889 rs777794485 0.000 synonymousTLeu [L]1830
contig referenceCLeu [L]1830
1509489612888 rs746945231 0.000 missenseGGlu [E]3829
contig referenceCAsp [D]3829
1509489702879 rs757036802 0.000 synonymousTThr [T]3826
contig referenceCThr [T]3826
1509489712878 rs199473002 N.D. PathogenicmissenseTIle [I]2826
contig referenceCThr [T]2826
1509489732876 rs149367419 0.000byCluster synonymousTLeu [L]3825
contig referenceCLeu [L]3825
1509489812868 rs199473538 N.D. PathogenicmissenseTTrp [W]1823
contig referenceCArg [R]1823
1509489822867 rs780870457 0.000 synonymousCVal [V]3822
contig referenceGVal [V]3822
1509489842865 rs121912506 N.D.byCluster PathogenicmissenseAMet [M]1822
missenseCLeu [L]1822
contig referenceGVal [V]1822
1509489902859 rs199473001 0.000byCluster untestedmissenseAArg [R]1820
contig referenceGGly [G]1820
1509489912858 rs768725008 0.000byFreq missenseGLys [K]3819
synonymousTAsn [N]3819
contig referenceCAsn [N]3819
1509489922857 rs794728446 N.D. Pathogenicframe shift-Thr [T]2819
contig referenceAAsn [N]2819
1509489942855 rs72549418 0.001byClusterbyFreqWith1000GenomeData0.0002 Uncertain significancesynonymousASer [S]3818
contig referenceGSer [S]3818
1509489952854 rs121912510 0.000byCluster PathogenicmissenseTLeu [L]2818
contig referenceCSer [S]2818
1509489962853 rs199473537 N.D. untestedmissenseCPro [P]1818
contig referenceTSer [S]1818
1509490002849 rs41311000 0.021byCluster synonymousGGly [G]3816
contig referenceCGly [G]3816
1509490032846 rs375147598 0.000byCluster synonymousCPro [P]3815
contig referenceTPro [P]3815
1509490182831 rs1007825929 N.D. missenseGLys [K]3810
contig referenceCAsn [N]3810
1509490232826 rs761112618 0.000 synonymousTLeu [L]1809
contig referenceCLeu [L]1809
1509490292820 rs794728445 N.D. Pathogenicframe shift-Ser [S]1807
contig referenceGGlu [E]1807
1509490312818 rs199473000 N.D.byCluster PathogenicmissenseAGlu [E]2806
missenseCAla [A]2806
contig referenceGGly [G]2806
1509490342815 rs199472999 N.D.byCluster PathogenicmissenseCSer [S]2805
missenseGCys [C]2805
contig referenceTPhe [F]2805
1509490362813 rs551139237 0.000byFreqWith1000GenomeData0.0004 synonymousAIle [I]3804
contig referenceCIle [I]3804
1509490392810 rs776830887 0.000 synonymousTAsp [D]3803
contig referenceCAsp [D]3803
1509490432806 rs863224632 N.D. Uncertain significancemissenseGSer [S]2802
contig referenceAAsn [N]2802
1509490442805 rs1027778979 N.D. missenseGAsp [D]1802
contig referenceAAsn [N]1802
1509490492800 rs199473536 N.D. untestedmissenseAGlu [E]2800
contig referenceGGly [G]2800
1509501682799 rs199472998 N.D. untestedmissenseTTrp [W]1800
contig referenceGGly [G]1800
1509501702797 rs794728390 N.D. PathogenicmissenseCPro [P]2799
contig referenceTLeu [L]2799
1509501712796 rs794728444 N.D. Pathogenicframe shift-Trp [W]1799
contig referenceCLeu [L]1799
1509501752792 rs766347324 0.000 synonymousGAla [A]3797
contig referenceCAla [A]3797
1509501762791 rs794728389 N.D. Likely pathogenicmissenseAAsp [D]2797
contig referenceCAla [A]2797
1509501802787 rs143335921 0.000byClusterbyFreq missenseAMet [M]1796
missenseCLeu [L]1796
missenseTLeu [L]1796
contig referenceGVal [V]1796
1509501832784 rs1002588450 N.D. missenseAIle [I]1795
contig referenceGVal [V]1795
1509501842783 rs777801910 0.000byFreq Uncertain significancesynonymousTVal [V]3794
contig referenceCVal [V]3794
1509501862781 rs565006344 0.000With1000GenomeData0.0002 Uncertain significancemissenseAIle [I]1794
contig referenceGVal [V]1794
1509501872780 rs147507005 0.000byCluster synonymousTAsp [D]3793
contig referenceCAsp [D]3793
1509501892778 rs781352799 0.000 missenseAAsn [N]1793
contig referenceGAsp [D]1793
1509501902777 rs745993706 0.000byFreq synonymousTGly [G]3792
contig referenceCGly [G]3792
1509501942773 rs770393669 0.000 missenseAGln [Q]2791
contig referenceGArg [R]2791
1509501952772 rs138498207 0.000byClusterbyFreqWith1000GenomeData0.0002 othermissenseTTrp [W]1791
contig referenceCArg [R]1791
1509502002767 rs794728388 N.D. PathogenicmissenseCThr [T]2789
contig referenceTIle [I]2789
1509502022765 rs199473535 N.D. untestedmissenseCAsp [D]3788
contig referenceGGlu [E]3788
1509502042763 rs199472997 N.D. Likely pathogenicmissenseALys [K]1788
contig referenceGGlu [E]1788
1509502052762 rs147635827 0.003 synonymousTIle [I]3787
contig referenceCIle [I]3787
1509502062761 rs794728387 N.D. Likely pathogenicmissenseAAsn [N]2787
contig referenceTIle [I]2787
1509502122755 rs199472996 N.D.byCluster untestedmissenseCAla [A]2785
missenseTVal [V]2785
contig referenceGGly [G]2785
1509502152752 rs149588350 0.000byClusterbyFreq missenseAGln [Q]2784
contig referenceGArg [R]2784
1509502162751 rs12720441 0.000byClusterwithHapMapFreqWith1000GenomeData0.0002 Likely pathogenicmissenseGGly [G]1784
missenseGGly [G]1784
missenseTTrp [W]1784
missenseTTrp [W]1784
contig referenceCArg [R]1784
contig referenceCArg [R]1784
1509502232744 rs886039215 N.D. Uncertain significancemissenseGLeu [L]3781
contig referenceCPhe [F]3781
1509502342733 rs769076001 0.000byFreq missenseAThr [T]1778
contig referenceGAla [A]1778
1509502352732 rs41307292 0.000byClusterbyFreqWith1000GenomeData0.0002 Uncertain significancesynonymousTThr [T]3777
contig referenceCThr [T]3777
1509502382729 rs747861687 0.000 synonymousGLeu [L]3776
contig referenceCLeu [L]3776
1509502402727 rs771674303 0.000byCluster Likely pathogenicmissenseAIle [I]1776
missenseTPhe [F]1776
contig referenceCLeu [L]1776
1509502412726 rs772751748 0.000byFreq synonymousCLeu [L]3775
contig referenceGLeu [L]3775
1509502462721 rs199472995 N.D. PathogenicmissenseTTyr [Y]1774
contig referenceGAsp [D]1774
1509502502717 rs1013660810 N.D. synonymousCAla [A]3772
contig referenceTAla [A]3772
1509502572710 rs199472994 N.D. untestedmissenseCAla [A]2770
contig referenceTVal [V]2770
1509502672700 rs199472993 N.D. untestedmissenseTTyr [Y]1767
contig referenceGAsp [D]1767
1509502732694 rs760248934 0.000 missenseTSer [S]1765
contig referenceCPro [P]1765
1509502742693 rs766291953 0.000 synonymousAPro [P]3764
contig referenceGPro [P]3764
1509502752692 rs878853773 N.D. Uncertain significancemissenseTLeu [L]2764
contig referenceCPro [P]2764
1509502952672 rs199472992 N.D. untestedmissenseCAsn [N]3757
contig referenceGLys [K]3757
1509502982669 rs776562914 0.000 missenseAIle [I]3756
contig referenceGMet [M]3756
1509503002667 rs199473534 N.D. untestedmissenseGVal [V]1756
contig referenceAMet [M]1756
1509503012666 rs144308070 0.000byClusterbyFreq synonymousTAla [A]3755
contig referenceCAla [A]3755
1509503032664 rs794728386 N.D. Likely pathogenicmissenseAThr [T]1755
contig referenceGAla [A]1755
1509503052662 rs794728492 N.D. Uncertain significancemissenseGArg [R]2754
contig referenceTLeu [L]2754
1509503092658 rs199472991 N.D. untestedmissenseTSer [S]1753
contig referenceGAla [A]1753
1509503112656 rs121912512 0.000byCluster PathogenicmissenseAGln [Q]2752
contig referenceGArg [R]2752
1509503122655 rs199472990 N.D. PathogenicmissenseTTrp [W]1752
contig referenceCArg [R]1752
1509503162651 rs33999003 N.D. frame shift-Phe [F]3751
contig referenceCLeu [L]3751
1509503202647 rs199472989 N.D. PathogenicmissenseTVal [V]2749
contig referenceGGly [G]2749
1509503252642 rs770708451 N.D. synonymousTThr [T]3747
contig referenceCThr [T]3747
1509503282639 rs765110115 0.000byFreq synonymousGAla [A]3746
contig referenceCAla [A]3746
1509503302637 rs751681463 0.000byFreq Uncertain significancemissenseTSer [S]1746
contig referenceGAla [A]1746
1509503362631 rs189014161 0.000byClusterbyFreqWith1000GenomeData0.0004 PathogenicnonsenseT1744
missenseGGly [G]1744
synonymousAArg [R]1744
contig referenceCArg [R]1744
1509503412626 rs776365689 N.D. missenseTLeu [L]2742
contig referenceCPro [P]2742
1509503442623 rs538224282 N.D. missenseGArg [R]2741
contig referenceALys [K]2741
1509503462621 rs750522258 0.000 missenseGTrp [W]3740
contig referenceCCys [C]3740
1509503482619 rs756315885 0.000 missenseGGly [G]1740
contig referenceTCys [C]1740
1509503502617 rs869025446 N.D. Uncertain significancemissenseGArg [R]2739
contig referenceAHis [H]2739
1509503562611 rs780647132 0.000 missenseCPro [P]2737
contig referenceTLeu [L]2737
1509503622605 rs199472988 0.000byCluster Likely pathogenicmissenseTLeu [L]2735
contig referenceCSer [S]2735
1509503652602 rs923421447 N.D. missenseTLeu [L]2734
contig referenceGArg [R]2734
1509503662601 rs143072395 0.003 Uncertain significancemissenseTCys [C]1734
contig referenceCArg [R]1734
1509503732594 rs755252767 0.000byFreq synonymousTHis [H]3731
contig referenceCHis [H]3731
1509503742593 rs794728385 N.D. Likely pathogenicmissenseCPro [P]2731
contig referenceAHis [H]2731
1509503842583 rs199473533 N.D. untestedmissenseTPhe [F]1728
contig referenceAIle [I]1728
1509503852582 rs779316852 0.000 synonymousTAsp [D]3727
contig referenceCAsp [D]3727
1509503982569 rs794728491 N.D. Uncertain significancemissenseATyr [Y]2723
contig referenceGCys [C]2723
1509503992568 rs199472987 N.D. untestedmissenseCArg [R]1723
contig referenceTCys [C]1723
1509504042563 rs199472986 N.D.byCluster untestedmissenseTLeu [L]2721
contig referenceCPro [P]2721
1509504092558 rs748506070 0.000byFreq synonymousAGly [G]3719
synonymousTGly [G]3719
contig referenceCGly [G]3719
1509509212546 rs794728384 N.D. PathogenicsynonymousAAla [A]3715
contig referenceGAla [A]3715
1509509222545 rs780656919 0.000byFreq Uncertain significancemissense