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dbSNP

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SNP linked to Gene (geneID:2153) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000130.4minus strandNP_000121.2reverseNT_004487.20GRCh38.p7<- currently shown
XM_017000660.1minus strandXP_016856149.1reverseNT_004487.20GRCh38.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_004487.20NM_000130.4NP_000121.2reverseminus strand2089, 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
1695143136820 rs1490342780 N.D. TTyr [Y]32225
contig referenceG32225
1695143156818 rs747862954 0.000 CGln [Q]12225
contig referenceT12225
1695143186815 rs769633470 0.000byFreq missenseGAsp [D]12224
contig referenceTTyr [Y]12224
1695143236810 rs6027 0.114byClusterbyFreqWith1000GenomeData0.0453 YesLikely benignmissenseGGly [G]22222
missenseGGly [G]22222
missenseGGly [G]22222
contig referenceAAsp [D]22222
contig referenceAAsp [D]22222
contig referenceAAsp [D]22222
1695143246809 rs762635509 0.000 missenseAAsn [N]12222
contig referenceGAsp [D]12222
1695143266807 rs1373350559 N.D. missenseATyr [Y]22221
contig referenceGCys [C]22221
1695143306803 rs770569683 0.000 missenseTCys [C]12220
contig referenceGGly [G]12220
1695143316802 rs1161486675 N.D. synonymousCPhe [F]32219
contig referenceTPhe [F]32219
1695143326801 rs773692875 0.000 missenseGCys [C]22219
contig referenceTPhe [F]22219
1695143336800 rs766626195 N.D. missenseCLeu [L]12219
contig referenceTPhe [F]12219
1695143356798 rs761265498 0.000byCluster missenseCPro [P]22218
contig referenceTLeu [L]22218
1695143376796 rs561026191 0.001byFreqWith1000GenomeData0.0010 missenseTAsp [D]32217
synonymousGGlu [E]32217
contig referenceAGlu [E]32217
1695143426791 rs1244649097 N.D. synonymousTLeu [L]12216
contig referenceCLeu [L]12216
1695143436790 rs777096123 0.000byFreq synonymousTArg [R]32215
contig referenceCArg [R]32215
1695143446789 rs952196842 N.D. missenseAHis [H]22215
missenseTLeu [L]22215
contig referenceGArg [R]22215
1695143456788 rs984836970 N.D. missenseTCys [C]12215
contig referenceCArg [R]12215
1695143506783 rs199629447 0.000byClusterWith1000GenomeData0.0002 YesmissenseTVal [V]22213
contig referenceCAla [A]22213
1695143596774 rs886045541 N.D. Uncertain significancemissenseTLeu [L]22210
contig referenceAGln [Q]22210
1695143606773 rs1445108029 N.D. missenseGGlu [E]12210
contig referenceCGln [Q]12210
1695143666767 rs1230851293 N.D. missenseCArg [R]12208
contig referenceTTrp [W]12208
1695143686765 rs765502109 0.000 missenseTIle [I]22207
contig referenceCThr [T]22207
1695143756758 rs750661511 0.000 missenseTSer [S]12205
contig referenceCPro [P]12205
1695143776756 rs758553526 0.000byFreq missenseCThr [T]22204
contig referenceTIle [I]22204
1695143786755 rs371325155 0.000byCluster YesmissenseGVal [V]12204
contig referenceAIle [I]12204
1695143826751 rs368496361 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAArg [R]32202
contig referenceTArg [R]32202
1695143846749 rs754980174 0.000byClusterbyFreq missenseTCys [C]12202
contig referenceCArg [R]12202
1695143886745 rs142201768 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousCPhe [F]32200
contig referenceTPhe [F]32200
1695143926741 rs748029037 0.000byFreq missenseCThr [T]22199
contig referenceGArg [R]22199
1695143936740 rs755983488 0.000 missenseGGly [G]12199
contig referenceAArg [R]12199
1695143956738 rs878881708 N.D.byCluster missenseATyr [Y]22198
contig referenceCSer [S]22198
1695143996734 rs372005449 0.000byClusterbyFreq YesUncertain significancemissenseGVal [V]12197
missenseTPhe [F]12197
contig referenceAIle [I]12197
1695144026731 rs770657381 0.000byClusterbyFreq missenseGVal [V]12196
contig referenceAIle [I]12196
1695144046729 rs1165178830 N.D. missenseGArg [R]22195
contig referenceCPro [P]22195
1695144056728 rs773959259 0.000 missenseTSer [S]12195
contig referenceCPro [P]12195
1695144066727 rs905941872 N.D. synonymousTPro [P]32194
contig referenceCPro [P]32194
1695144096724 rs745340966 0.000 missenseALys [K]32193
missenseGLys [K]32193
contig referenceCAsn [N]32193
1695144106723 rs769274375 0.000 missenseGSer [S]22193
contig referenceAAsn [N]22193
1695144136720 rs776991007 0.000 missenseCSer [S]22192
missenseGCys [C]22192
contig referenceTPhe [F]22192
1695144246709 rs1438898768 N.D. synonymousAVal [V]32188
contig referenceGVal [V]32188
1695144276706 rs918191831 N.D. missenseAGln [Q]32187
contig referenceTHis [H]32187
1695144336700 rs762252844 0.000 missenseCAsn [N]32185
contig referenceALys [K]32185
1695144346699 rs6679078 0.002byClusterbyFreqWith1000GenomeData0.0028 YesmissenseGArg [R]22185
contig referenceALys [K]22185
1695144386695 rs1247244036 N.D. missenseTSer [S]12184
contig referenceAThr [T]12184
1695144436690 rs1453575846 N.D. missenseTIle [I]22182
contig referenceCThr [T]22182
1695144446689 rs952308872 N.D. missenseGAla [A]12182
contig referenceAThr [T]12182
1695144526681 rs200126811 0.002byCluster YesmissenseCAla [A]22179
contig referenceAGlu [E]22179
1695154486669 rs369720229 0.000byClusterbyFreq YesmissenseGGly [G]22175
contig referenceAAsp [D]22175
1695154526665 rs1377144501 N.D. missenseTLeu [L]12174
contig referenceGVal [V]12174
1695154566661 rs780625444 0.000byFreq synonymousTSer [S]32172
contig referenceCSer [S]32172
1695154686649 rs757010994 0.000 synonymousAArg [R]32168
contig referenceGArg [R]32168
1695154756642 rs1308347372 N.D. missenseAGln [Q]22166
contig referenceCPro [P]22166
1695154836634 rs138021584 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousGGlu [E]32163
contig referenceAGlu [E]32163
1695154886629 rs576975311 0.000With1000GenomeData0.0002 missenseAMet [M]12162
contig referenceGVal [V]12162
1695154926625 rs1398875164 N.D. missenseCHis [H]32160
contig referenceGGln [Q]32160
1695154956622 rs771496715 0.000byFreq synonymousAGlu [E]32159
contig referenceGGlu [E]32159
1695155016616 rs889356518 N.D. synonymousTTyr [Y]32157
contig referenceCTyr [Y]32157
1695155096608 rs1366701930 N.D. missenseGVal [V]12155
contig referenceAIle [I]12155
1695155116606 rs775001649 0.000byFreq missenseAAsn [N]22154
missenseTIle [I]22154
contig referenceCThr [T]22154
1695155126605 rs200777907 0.005byClusterbyFreq YesmissenseCPro [P]12154
contig referenceAThr [T]12154
1695155136604 rs773618429 0.000byFreq Uncertain significancesynonymousCTyr [Y]32153
contig referenceTTyr [Y]32153
1695155206597 rs201920792 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGArg [R]22151
contig referenceALys [K]22151
1695155296588 rs9332701 0.059byClusterbyFreqWith1000GenomeData0.0114 YesothermissenseCThr [T]22148
contig referenceTMet [M]22148
1695155376580 rs1359141464 N.D. synonymousTSer [S]32145
contig referenceCSer [S]32145
1695155446573 rs1180688848 N.D. missenseTPhe [F]22143
contig referenceCSer [S]22143
1695155476570 rs774445274 0.000 missenseGArg [R]22142
contig referenceALys [K]22142
1695155526565 rs759734191 0.000 synonymousAGly [G]32140
synonymousTGly [G]32140
contig referenceCGly [G]32140
1695155536564 rs1428657156 N.D. missenseAAsp [D]22140
contig referenceGGly [G]22140
1695155636554 rs1289622910 N.D. missenseGVal [V]12137
contig referenceAIle [I]12137
1695155656552 rs892889950 N.D. missenseCThr [T]22136
contig referenceTIle [I]22136
1695155696548 rs767524616 0.000 missenseAThr [T]12135
contig referenceGAla [A]12135
1695155706547 rs144486119 0.000byClusterbyFreq YessynonymousAThr [T]32134
contig referenceGThr [T]32134
1695155716546 rs199601865 0.000byClusterbyFreq YesmissenseTMet [M]22134
contig referenceCThr [T]22134
1695155756542 rs1352914436 N.D. missenseGVal [V]12133
contig referenceAIle [I]12133
1695155826535 rs1461809958 N.D. synonymousTIle [I]32130
contig referenceCIle [I]32130
1695155876530 rs1299089981 N.D. missenseGGlu [E]12129
contig referenceALys [K]12129
1695155886529 rs377723406 0.000byCluster YessynonymousGLeu [L]32128
contig referenceCLeu [L]32128
1695155916526 rs1487664037 N.D. synonymousGLeu [L]32127
contig referenceALeu [L]32127
1695155966521 rs976415610 N.D. missenseAAsn [N]12126
contig referenceGAsp [D]12126
1695155986519 rs764090739 0.000 missenseAAsn [N]22125
contig referenceTIle [I]22125
1695156026515 rs753754441 0.002byFreq missenseALys [K]12124
contig referenceGGlu [E]12124
1695156126505 rs757104503 0.000byFreq Uncertain significancesynonymousALys [K]32120
contig referenceGLys [K]32120
1695156136504 rs1239129961 N.D. missenseGArg [R]22120
contig referenceALys [K]22120
1695156216496 rs1354809881 N.D. missenseALys [K]32117
contig referenceCAsn [N]32117
1695184126490 rs775340722 N.D. synonymousALys [K]32115
contig referenceGLys [K]32115
1695184166486 rs879214285 N.D. missenseTVal [V]22114
contig referenceCAla [A]22114
1695184176485 rs1386456142 N.D. missenseTSer [S]12114
contig referenceGAla [A]12114
1695184306472 rs267598156 N.D.byCluster YessynonymousAVal [V]32109
contig referenceGVal [V]32109
1695184346468 rs751124066 0.000 missenseAHis [H]22108
contig referenceGArg [R]22108
1695184356467 rs200646894 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseASer [S]12108
missenseTCys [C]12108
contig referenceCArg [R]12108
1695184376465 rs780611660 0.000byFreq missenseAGlu [E]22107
contig referenceGGly [G]22107
1695184386464 rs987302774 N.D. missenseAArg [R]12107
contig referenceGGly [G]12107
1695184436459 rs749823356 0.000 missenseTVal [V]22105
contig referenceCAla [A]22105
1695184486454 rs35369423 0.008byClusterbyFreqWith1000GenomeData0.0020 YesUncertain significancesynonymousALeu [L]32103
synonymousALeu [L]32103
contig referenceGLeu [L]32103
contig referenceGLeu [L]32103
1695184496453 rs202227122 0.002 YesmissenseCPro [P]22103
contig referenceTLeu [L]22103
1695184536449 rs118203910 0.000byCluster YesPathogenicmissenseTCys [C]12102
contig referenceCArg [R]12102
1695184536449 rs760084344 0.000 frame shift-Val [V]12102
contig referenceCArg [R]12102
1695184546448 rs746211961 0.000 synonymousGAla [A]32101
contig referenceCAla [A]32101
1695184586444 rs772248818 0.000byClusterbyFreq missenseAHis [H]22100
contig referenceGArg [R]22100
1695184596443 rs775843029 0.000byFreq missenseTCys [C]12100
contig referenceCArg [R]12100
1695184636439 rs112171464 0.500 YessynonymousTPro [P]32098
contig referenceCPro [P]32098
1695184646438 rs1334042487 N.D. missenseTLeu [L]22098
contig referenceCPro [P]22098
1695184726430 rs747170145 0.000 synonymousTTyr [Y]32095
contig referenceCTyr [Y]32095
1695184776425 rs768862607 0.000 missenseCHis [H]12094
contig referenceGAsp [D]12094
1695184806422 rs1399018486 N.D. missenseAArg [R]12093
contig referenceGGly [G]12093
1695184966406 rs1167171192 N.D. missenseGLeu [L]32087
contig referenceTPhe [F]32087
1695184986404 rs201709883 0.000byClusterWith1000GenomeData0.0002 YesmissenseCLeu [L]12087
contig referenceTPhe [F]12087
1695184996403 rs200435082 0.000byClusterbyFreq YessynonymousASer [S]32086
contig referenceGSer [S]32086
1695185006402 rs1385521861 N.D. missenseTLeu [L]22086
contig referenceCSer [S]22086
1695185036399 rs765202347 0.000 missenseATyr [Y]22085
contig referenceCSer [S]22085
1695185046398 rs527837316 N.D. missenseAThr [T]12085
contig referenceTSer [S]12085
1695185116391 rs1460128252 N.D. synonymousTIle [I]32082
contig referenceCIle [I]32082
1695185136389 rs1183439856 N.D. missenseGVal [V]12082
contig referenceAIle [I]12082
1695185166386 rs201142225 0.000byCluster YesmissenseGGlu [E]12081
contig referenceCGln [Q]12081
1695185206382 rs762791810 0.000 synonymousTAsn [N]32079
contig referenceCAsn [N]32079
1695185246378 rs1157345306 N.D. missenseCAla [A]22078
contig referenceAGlu [E]22078
1695185306372 rs1236388078 N.D. missenseGArg [R]22076
contig referenceALys [K]22076
1695185416361 rs148045855 0.000byClusterbyFreq YesmissenseAIle [I]32072
contig referenceGMet [M]32072
1695185426360 rs751215852 0.000 missenseCThr [T]22072
contig referenceTMet [M]22072
1695185436359 rs1160711163 N.D. missenseGVal [V]12072
contig referenceAMet [M]12072
1695185526350 rs564167068 0.000byClusterbyFreq missenseTSer [S]12069
contig referenceCPro [P]12069
1695185566346 rs1270617524 N.D. synonymousGSer [S]32067
contig referenceCSer [S]32067
1695185576345 rs887173832 N.D. missenseTPhe [F]22067
contig referenceCSer [S]22067
1695185596343 rs1204222518 N.D. missenseGTrp [W]32066
contig referenceTCys [C]32066
1695185606342 rs369317367 N.D. YesmissenseATyr [Y]22066
contig referenceGCys [C]22066
1695185616341 rs376834131 0.000byCluster YesmissenseCArg [R]12066
contig referenceTCys [C]12066
1695205236335 rs755636549 0.000 missenseGAsp [D]12064
contig referenceAAsn [N]12064
1695205246334 rs763456027 0.000 synonymousCVal [V]32063
contig referenceAVal [V]32063
1695205316327 rs750944413 0.000 missenseATyr [Y]22061
contig referenceGCys [C]22061
1695205326326 rs987775725 N.D. missenseASer [S]12061
missenseCArg [R]12061
contig referenceTCys [C]12061
1695205346324 rs1384690038 N.D. missenseAAsp [D]22060
contig referenceGGly [G]22060
1695205396319 rs1347370448 N.D. synonymousCLeu [L]32058
contig referenceGLeu [L]32058
1695205436315 rs758936163 0.000 missenseTVal [V]22057
contig referenceAGlu [E]22057
1695205496309 rs886045542 N.D.byCluster Uncertain significancemissenseAGln [Q]22055
contig referenceGArg [R]22055
1695205506308 rs199690772 0.000byClusterbyFreq YesnonsenseT12055
contig referenceCArg [R]12055
1695205536305 rs751953453 0.000byFreq missenseTPhe [F]12054
contig referenceCLeu [L]12054
1695205636295 rs1207935478 N.D. synonymousTAsn [N]32050
contig referenceCAsn [N]32050
1695205646294 rs1267300622 N.D. missenseGSer [S]22050
contig referenceAAsn [N]22050
1695205676291 rs755294580 0.000byFreq missenseGCys [C]22049
contig referenceATyr [Y]22049
1695205706288 rs781475546 0.000 missenseTVal [V]22048
contig referenceCAla [A]22048
1695205736285 rs748256909 0.000byFreq missenseAGln [Q]22047
contig referenceGArg [R]22047
1695205746284 rs1379054147 N.D. nonsenseT12047
missenseGGly [G]12047
contig referenceCArg [R]12047
1695205756283 rs1474222109 N.D. synonymousGThr [T]32046
contig referenceTThr [T]32046
1695205776281 rs769917245 0.000 missenseGAla [A]12046
contig referenceAThr [T]12046
1695205796279 rs1370956676 N.D. missenseTLeu [L]22045
contig referenceCPro [P]22045
1695205826276 rs1431335069 N.D. missenseGCys [C]22044
contig referenceCSer [S]22044
1695205866272 rs777672838 0.000 missenseGVal [V]12043
contig referenceAIle [I]12043
1695205916267 rs1364834534 N.D. missenseCThr [T]22041
contig referenceTIle [I]22041
1695205956263 rs1386333944 N.D. missenseAAsn [N]12040
contig referenceTTyr [Y]12040
1695205966262 rs749267878 0.000byFreq synonymousGArg [R]32039
contig referenceAArg [R]32039
1695205976261 rs770831790 0.000byFreq missenseALys [K]22039
contig referenceGArg [R]22039
1695206016257 rs896317019 N.D. missenseAThr [T]12038
contig referenceGAla [A]12038
1695206076251 rs774169591 0.000 missenseCLeu [L]12036
missenseGVal [V]12036
contig referenceAIle [I]12036
1695206086250 rs759321210 0.000 synonymousAPro [P]32035
synonymousGPro [P]32035
contig referenceTPro [P]32035
1695206146244 rs1256561903 N.D. synonymousTAsp [D]32033
contig referenceCAsp [D]32033
1695206166242 rs1343321355 N.D. missenseAAsn [N]12033
missenseTTyr [Y]12033
contig referenceGAsp [D]12033
1695206176241 rs771769756 0.000 synonymousCPhe [F]32032
contig referenceTPhe [F]32032
1695206206238 rs775222365 0.000 missenseTHis [H]32031
contig referenceGGln [Q]32031
1695206266232 rs549481773 0.000byFreqWith1000GenomeData0.0002 missenseTAsp [D]32029
synonymousAGlu [E]32029
contig referenceGGlu [E]32029
1695206286230 rs753239604 0.000 missenseALys [K]12029
contig referenceGGlu [E]12029
1695206306228 rs1268827129 N.D. missenseCThr [T]22028
contig referenceALys [K]22028
1695206326226 rs763607573 0.000 missenseGMet [M]32027
contig referenceAIle [I]32027
1695206366222 rs111378457 0.500 YesmissenseTIle [I]22026
contig referenceCThr [T]22026
1695206396219 rs766963697 0.000 missenseTPhe [F]22025
contig referenceCSer [S]22025
1695206446214 rs752041305 0.000 synonymousCAsp [D]32023
contig referenceTAsp [D]32023
1695206476211 rs755384450 0.000byFreq synonymousGSer [S]32022
contig referenceASer [S]32022
1695206546204 rs1012057631 N.D. missenseAAsp [D]22020
contig referenceGGly [G]22020
1695231986192 rs761406114 0.000 missenseCThr [T]22016
contig referenceTMet [M]22016
1695232036187 rs989701569 N.D. synonymousCAsn [N]32014
contig referenceTAsn [N]32014
1695232066184 rs767055534 0.000byFreq missenseCSer [S]32013
synonymousAArg [R]32013
contig referenceGArg [R]32013
1695232086182 rs1315863958 N.D. frame shift-Gly [G]12013
contig referenceAArg [R]12013
1695232116179 rs760076484 0.000 missenseGAla [A]12012
contig referenceAThr [T]12012
1695232156175 rs573523644 0.000With1000GenomeData0.0002 missenseGLys [K]32010
contig referenceCAsn [N]32010
1695232166174 rs1227290753 N.D. missenseGSer [S]22010
contig referenceAAsn [N]22010
1695232256165 rs752979935 0.000 missenseATyr [Y]22007
missenseCSer [S]22007
contig referenceTPhe [F]22007
1695232286162 rs1276514817 N.D. missenseCThr [T]22006
contig referenceTIle [I]22006
1695232316159 rs756397912 0.000byFreq missenseGArg [R]22005
contig referenceAGln [Q]22005
1695232366154 rs1399670455 N.D. synonymousTAsn [N]32003
contig referenceCAsn [N]32003
1695232376153 rs764216548 0.000 missenseGSer [S]22003
contig referenceAAsn [N]22003
1695232406150 rs753976756 0.000 missenseAAsn [N]22002
missenseCThr [T]22002
contig referenceTIle [I]22002
1695232426148 rs536150657 N.D.byCluster synonymousAGln [Q]32001
contig referenceGGln [Q]32001
1695232446146 rs1445925417 N.D. missenseALys [K]12001
contig referenceCGln [Q]12001
1695232456145 rs757342445 0.000 synonymousTAsn [N]32000
contig referenceCAsn [N]32000
1695232496141 rs1248388210 N.D. missenseTPhe [F]21999
contig referenceCSer [S]21999
1695232536136 rs1171766761 N.D. frame shiftTTACLeu [L]31998
contig reference-Ser [S]31998
1695232576133 rs1418396710 N.D. synonymousCAla [A]31996
contig referenceTAla [A]31996
1695232636127 rs778897920 0.000byFreq synonymousCTyr [Y]31994
contig referenceTTyr [Y]31994
1695232666124 rs745838560 0.000 synonymousTPhe [F]31993
contig referenceCPhe [F]31993
1695232696121 rs915397925 N.D. synonymousAGlu [E]31992
contig referenceGGlu [E]31992
1695232866104 rs1174590593 N.D. missenseCPro [P]11987
contig referenceTSer [S]11987
1695232966094 rs146120992 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTHis [H]31983
contig referenceCHis [H]31983
1695232986092 rs1421986452 N.D. missenseAAsn [N]11983
contig referenceCHis [H]11983
1695233076083 rs779950139 0.000 missenseCArg [R]11980
contig referenceGGly [G]11980
1695233086082 rs746752426 0.000 synonymousGGln [Q]31979
contig referenceAGln [Q]31979
1695233126078 rs768425862 0.000 missenseTIle [I]21978
contig referenceCThr [T]21978
1695233136077 rs776413166 0.000 missenseTSer [S]11978
contig referenceAThr [T]11978
1695233166074 rs747749755 0.000 nonsenseT11977
contig referenceCGln [Q]11977
1695233186072 rs1351801804 N.D. missenseAAsn [N]21976
contig referenceTIle [I]21976
1695233206069 rs1221111201 N.D. frame shift(13bp)Leu [L]21976
contig reference-Ile [I]21976
1695233226068 rs146312772 0.000byClusterbyFreq YesmissenseCArg [R]11975
contig referenceGGly [G]11975
1695233286062 rs772796005 0.000 missenseGVal [V]11973
contig referenceAIle [I]11973
1695233306060 rs1212019782 N.D. missenseCThr [T]21972
contig referenceTIle [I]21972
1695233316059 rs376078482 0.000byCluster YesmissenseGVal [V]11972
contig referenceAIle [I]11972
1695233376053 rs1482575135 N.D. missenseCGln [Q]11970
contig referenceGGlu [E]11970
1695233426048 rs1205793665 N.D. missenseGArg [R]21968
contig referenceAGln [Q]21968
1695233436047 rs767876862 0.000 missenseALys [K]11968
contig referenceCGln [Q]11968
1695233466044 rs1381298231 N.D. missenseCLeu [L]11967
missenseGVal [V]11967
contig referenceAMet [M]11967
1695238036035 rs1193143627 N.D. missenseALys [K]11964
contig referenceCGln [Q]11964
1695238066032 rs967298104 N.D. missenseGVal [V]11963
contig referenceAIle [I]11963
1695238086030 rs1234655743 N.D. nonsenseA21962
contig referenceGTrp [W]21962
1695238116027 rs1388508540 N.D. missenseTLeu [L]21961
contig referenceCPro [P]21961
1695238126026 rs748741328 0.000byFreq missenseAThr [T]11961
contig referenceCPro [P]11961
1695238176021 rs1333183600 N.D. missenseGCys [C]21959
contig referenceCSer [S]21959
1695238216017 rs978211268 N.D. missenseAThr [T]11958
contig referenceGAla [A]11958
1695238286010 rs1169594247 N.D. synonymousCAla [A]31955
contig referenceAAla [A]31955
1695238296009 rs1392608443 N.D. missenseTVal [V]21955
contig referenceCAla [A]21955
1695238306008 rs372998280 0.000byClusterbyFreq YesmissenseTSer [S]11955
contig referenceGAla [A]11955
1695238346004 rs1323413868 N.D. synonymousCLeu [L]31953
contig referenceTLeu [L]31953
1695238395999 rs1386573441 N.D. missenseGGlu [E]11952
contig referenceALys [K]11952
1695238405998 rs1459087261 N.D. synonymousGGlu [E]31951
contig referenceAGlu [E]31951
1695238455993 rs922886168 N.D. missenseAIle [I]11950
contig referenceGVal [V]11950
1695238465992 rs557869574 0.000byCluster missenseGArg [R]31949
contig referenceTSer [S]31949
1695238475991 rs761177380 0.000 missenseAAsn [N]21949
contig referenceGSer [S]21949
1695238495989 rs1286783795 N.D. nonsenseA31948
contig referenceGTrp [W]31948
1695238585980 rs764474317 0.000byFreq synonymousCTyr [Y]31945
contig referenceTTyr [Y]31945
1695238625976 rs577827052 N.D.byCluster missenseTPhe [F]21944
contig referenceCSer [S]21944
1695238635975 rs776933032 0.000 missenseGAla [A]11944
contig referenceTSer [S]11944
1695238655973 rs762072342 0.000byFreq missenseCAla [A]21943
contig referenceGGly [G]21943
1695238685970 rs765415797 0.000 missenseAAsp [D]21942
contig referenceGGly [G]21942
1695238755963 rs1290422527 N.D. missenseCHis [H]11940
contig referenceAAsn [N]11940
1695238775961 rs750570307 0.000 nonsenseG21939
contig referenceTLeu [L]21939
1695238795959 rs762931699 0.000 synonymousGArg [R]31938
contig referenceAArg [R]31938
1695238935945 rs766428271 0.000 missenseTSer [S]11934
contig referenceCPro [P]11934
1695238945944 rs1418671705 N.D. synonymousAGlu [E]31933
contig referenceGGlu [E]31933
1695239005938 rs1189685462 N.D. synonymousTTyr [Y]31931
contig referenceCTyr [Y]31931
1695239045934 rs377182698 0.000byClusterbyFreq YesmissenseAAsp [D]21930
contig referenceGGly [G]21930
1695248405930 rs1423490437 N.D. synonymousTLeu [L]11929
contig referenceCLeu [L]11929
1695248445926 rs902521052 N.D. missenseCAsp [D]31927
contig referenceGGlu [E]31927
1695248485922 rs752595310 0.000 nonsenseG21926
contig referenceCSer [S]21926
1695248495921 rs1439914613 N.D. missenseAThr [T]11926
contig referenceTSer [S]11926
1695248505920 rs755985485 0.000 synonymousGAla [A]31925
contig referenceTAla [A]31925
1695248545916 rs200160886 0.002 YesmissenseTMet [M]21924
contig referenceALys [K]21924
1695248595911 rs777643435 0.000 synonymousAGln [Q]31922
contig referenceGGln [Q]31922
1695248615909 rs1180481755 N.D. nonsenseT11922
contig referenceCGln [Q]11922
1695248735897 rs753464282 0.000 missenseGVal [V]11918
contig referenceAIle [I]11918
1695248745896 rs756885468 0.000 missenseGMet [M]31917
contig referenceCIle [I]31917
1695248795891 rs1332408903 N.D. missenseTCys [C]11916
contig referenceGGly [G]11916
1695248805890 rs1396270904 N.D. synonymousCThr [T]31915
contig referenceTThr [T]31915
1695248825888 rs1343103738 N.D. missenseGAla [A]11915
contig referenceAThr [T]11915
1695248865884 rs778336405 0.000 synonymousGLeu [L]31913
contig referenceALeu [L]31913
1695248925878 rs745353799 0.000byFreq missenseCIle [I]31911
contig referenceGMet [M]31911
1695248945876 rs769220533 0.000 missenseGVal [V]11911
contig referenceAMet [M]11911
1695248965874 rs200805004 0.000byClusterbyFreq YesmissenseTLeu [L]21910
contig referenceCPro [P]21910
1695249025868 rs191148130 0.002byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALys [K]21908
contig referenceGArg [R]21908
1695249045866 rs886045543 N.D. Uncertain significancesynonymousCCys [C]31907
contig referenceTCys [C]31907
1695259095853 rs1161334205 N.D. missenseCThr [T]21903
contig referenceTMet [M]21903
1695259105852 rs1388676847 N.D. missenseTLeu [L]11903
contig referenceAMet [M]11903
1695259235839 rs112493466 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousAThr [T]31898
synonymousCThr [T]31898
contig referenceGThr [T]31898
1695259245838 rs367819569 0.000byClusterbyFreq YesmissenseTMet [M]21898
contig referenceCThr [T]21898
1695259255837 rs1373439280 N.D. missenseGAla [A]11898
contig referenceAThr [T]11898
1695259295833 rs774639785 0.000 missenseAIle [I]31896
contig referenceGMet [M]31896
1695259305831 rs1244504990 N.D. frame shift-Ala [A]11896
contig referenceATMet [M]11896
1695259325829 rs1297313985 N.D. frame shift-Asp [D]21895
contig referenceGGGly [G]21895
1695259355827 rs1343565437 N.D. synonymousGAla [A]31894
contig referenceAAla [A]31894
1695259375825 rs368064025 0.000byCluster YesmissenseAThr [T]11894
contig referenceGAla [A]11894
1695259395823 rs944373509 N.D. missenseALys [K]21893
contig referenceGArg [R]21893
1695259415821 rs772302715 0.000 synonymousAGln [Q]31892
contig referenceGGln [Q]31892
1695259435819 rs775671654 0.000byFreq missenseGGlu [E]11892
contig referenceCGln [Q]11892
1695259445818 rs760734519 0.000 missenseGLys [K]31891
contig referenceCAsn [N]31891
1695259495813 rs386834228 N.D. PathogenicmissenseALys [K]11890
contig referenceGGlu [E]11890
1695259525810 rs764069752 0.000 missenseAArg [R]11889
contig referenceGGly [G]11889
1695259555807 rs1187761390 N.D. missenseCLeu [L]11888
contig referenceGVal [V]11888
1695259595803 rs776346830 0.000byFreq synonymousCThr [T]31886
contig referenceAThr [T]31886
1695259675795 rs371625729 0.000byClusterbyFreq YessynonymousTLeu [L]11884
contig referenceCLeu [L]11884
1695259685794 rs1198715747 N.D. synonymousTLeu [L]31883
contig referenceCLeu [L]31883
1695259745788 rs1031352699 N.D. nonsenseA31881
contig referenceGTrp [W]31881
1695259785784 rs1427318530 N.D. missenseCAla [A]21880
contig referenceGGly [G]21880
1695259845778 rs1370664725 N.D. missenseGArg [R]21878
contig referenceALys [K]21878
1695259905772 rs764871911 0.000byFreq missenseTVal [V]21876
contig referenceCAla [A]21876
1695259915771 rs750086339 0.000 missenseAThr [T]11876
contig referenceGAla [A]11876
1695259945768 rs757993119 0.000 missenseGGlu [E]11875
contig referenceALys [K]11875
1695259965766 rs377129476 0.000byClusterbyFreq YesmissenseCThr [T]21874
contig referenceTMet [M]21874
1695260015761 rs751050700 0.000byFreq synonymousCLeu [L]31872
contig referenceTLeu [L]31872
1695260055757 rs1301207200 N.D. missenseTIle [I]21871
contig referenceCThr [T]21871
1695260055756 rs1423869417 N.D. frame shiftAAsn [N]11871
contig reference-Thr [T]11871
1695260085754 rs1373062248 N.D. missenseGArg [R]21870
contig referenceALys [K]21870
1695260115751 rs1455826563 N.D. missenseGCys [C]21869
contig referenceTPhe [F]21869
1695260155747 rs1460772257 N.D. missenseCPro [P]11868
contig referenceTSer [S]11868
1695260175745 rs756675239 0.000byFreq missenseAAsp [D]21867
contig referenceGGly [G]21867
1695279165743 rs1227193883 N.D. synonymousCPro [P]31866
contig referenceTPro [P]31866
1695279195740 rs1388029347 N.D. synonymousTLeu [L]31865
contig referenceGLeu [L]31865
1695279245735 rs754392946 0.000 missenseGVal [V]11864
contig referenceCLeu [L]11864
1695279255734 rs148772659 0.000byClusterbyFreqWith1000GenomeData0.0002 YesUncertain significancesynonymousAPro [P]31863
contig referenceCPro [P]31863
1695279265733 rs1464582597 N.D. missenseTLeu [L]21863
contig referenceCPro [P]21863
1695279325727 rs1207838382 N.D. missenseGGly [G]21861
contig referenceTVal [V]21861
1695279345725 rs779460570 0.000 synonymousAGly [G]31860
synonymousTGly [G]31860
contig referenceGGly [G]31860
1695279355724 rs750794150 0.000 missenseAGlu [E]21860
contig referenceGGly [G]21860
1695279435716 rs980612048 N.D. synonymousTHis [H]31857
contig referenceCHis [H]31857
1695279455714 rs1305763936 N.D. missenseTTyr [Y]11857
contig referenceCHis [H]11857
1695279535706 rs758751108 0.000 missenseGSer [S]21854
contig referenceAAsn [N]21854
1695279565703 rs182566496 0.002byClusterbyFreqWith1000GenomeData0.0030 YesUncertain significancemissenseTVal [V]21853
contig referenceGGly [G]21853
1695279575702 rs747159705 0.000 missenseASer [S]11853
missenseTCys [C]11853
contig referenceGGly [G]11853
1695279585701 rs1181514129 N.D. synonymousCAsn [N]31852
contig referenceTAsn [N]31852
1695279665693 rs1413066628 N.D. synonymousTLeu [L]11850
contig referenceCLeu [L]11850
1695279785681 rs768791906 0.000byFreq missenseASer [S]11846
missenseTCys [C]11846
contig referenceGGly [G]11846
1695279795680 rs372920179 0.000byClusterbyFreq YessynonymousTHis [H]31845
contig referenceCHis [H]31845
1695279805679 rs200865371 0.000byClusterbyFreq YesUncertain significancemissenseGArg [R]21845
contig referenceAHis [H]21845
1695279925667 rs1196823591 N.D. missenseCAla [A]21841
contig referenceTVal [V]21841
1695279935666 rs142537705 0.000byCluster YesmissenseAMet [M]11841
contig referenceGVal [V]11841
1695279945665 rs1054476938 N.D. synonymousTHis [H]31840
contig referenceCHis [H]31840
1695280035656 rs1357261308 N.D. synonymousGGln [Q]31837
contig referenceAGln [Q]31837
1695280105649 rs1369225292 N.D. missenseTVal [V]21835
contig referenceGGly [G]21835
1695280115648 rs144182527 0.000byClusterbyFreq YesmissenseASer [S]11835
contig referenceGGly [G]11835
1695280125647 rs141434073 0.000byClusterbyFreq YessynonymousTGly [G]31834
contig referenceCGly [G]31834
1695280155644 rs1375147587 N.D. missenseGMet [M]31833
synonymousTIle [I]31833
contig referenceAIle [I]31833
1695280175642 rs144977031 0.000 YesmissenseGVal [V]11833
contig referenceAIle [I]11833
1695280245635 rs149092241 0.001byClusterbyFreq YesUncertain significancesynonymousALeu [L]31830
contig referenceGLeu [L]31830
1695280265633 rs774008252 0.000 synonymousTLeu [L]11830
contig referenceCLeu [L]11830
1695280335626 rs1312585110 N.D. synonymousAArg [R]31827
contig referenceGArg [R]31827
1695280345625 rs759064338 0.000 missenseCThr [T]21827
contig referenceGArg [R]21827
1695280355624 rs1358133623 N.D. synonymousCArg [R]11827
contig referenceAArg [R]11827
1695280365623 rs902078248 N.D. synonymousAVal [V]31826
contig referenceGVal [V]31826
1695280385621 rs767086839 0.000 missenseAMet [M]11826
contig referenceGVal [V]11826
1695280415618 rs752119239 0.000 missenseCArg [R]11825
contig referenceTTrp [W]11825
1695280425617 rs1233541526 N.D. synonymousAGlu [E]31824
contig referenceGGlu [E]31824
1695280445615 rs961548450 N.D. missenseALys [K]11824
contig referenceGGlu [E]11824
1695280525607 rs976693579 N.D. missenseGCys [C]21821
contig referenceATyr [Y]21821
1695280545605 rs6026 0.005byClusterbyFreqWith1000GenomeData0.0076 YesLikely benignmissenseAIle [I]31820
contig referenceGMet [M]31820
1695280605599 rs145637633 0.000byClusterbyFreq YessynonymousALeu [L]31818
synonymousCLeu [L]31818
contig referenceGLeu [L]31818
1695280615598 rs750012108 0.000 frame shift-Arg [R]21818
contig referenceTLeu [L]21818
1695280685591 rs141977229 0.002byClusterbyFreq YesmissenseTSer [S]11816
contig referenceCPro [P]11816
1695280695590 rs758837114 0.000byFreq missenseTPhe [F]31815
contig referenceGLeu [L]31815
1695280735586 rs1005936556 N.D. missenseCThr [T]21814
contig referenceGSer [S]21814
1695280765583 rs542347980 0.000With1000GenomeData0.0002 missenseGCys [C]21813
contig referenceATyr [Y]21813
1695280805579 rs751826388 0.000 missenseTPhe [F]11812
contig referenceAIle [I]11812
1695280815578 rs1484293078 N.D. missenseTIle [I]31811
contig referenceGMet [M]31811
1695280835576 rs138877178 0.002byClusterbyFreqWith1000GenomeData0.0006 YesmissenseTLeu [L]11811
contig referenceAMet [M]11811
1695280935566 rs781369269 0.000 synonymousGAla [A]31807
contig referenceCAla [A]31807
1695296085564 rs767263473 0.000 missenseAThr [T]11807
missenseCPro [P]11807
missenseTSer [S]11807
contig referenceGAla [A]11807
1695296095563 rs558881342 0.000byClusterbyFreq synonymousTHis [H]31806
contig referenceCHis [H]31806
1695296115561 rs1187647529 N.D. missenseTTyr [Y]11806
contig referenceCHis [H]11806
1695296165556 rs1422210493 N.D. missenseGGly [G]21804
contig referenceAGlu [E]21804
1695296195553 rs754104059 0.000 missenseGArg [R]21803
contig referenceAHis [H]21803
1695296225550 rs1163422006 N.D. missenseTPhe [F]21802
contig referenceCSer [S]21802
1695296235548 rs757917115 0.000byFreq frame shiftAIle [I]31802
contig reference-Ser [S]31802
1695296235549 rs763502147 0.000 missenseAThr [T]11802
contig referenceTSer [S]11802
1695296355537 rs386834227 N.D. PathogenicmissenseALys [K]11798
contig referenceGGlu [E]11798
1695296405532 rs1210646429 N.D. missenseTPhe [F]21796
contig referenceCSer [S]21796
1695296415531 rs1313911793 N.D. missenseCPro [P]11796
contig referenceTSer [S]11796
1695296445528 rs566189568 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseCPro [P]11795
contig referenceAThr [T]11795
1695296495523 rs1462705061 N.D. missenseTIle [I]21793
contig referenceGArg [R]21793
1695296515521 rs751835098 0.000 nonsenseA31792
contig referenceGTrp [W]31792
1695296525520 rs529951053 0.000byFreqWith1000GenomeData0.0002 nonsenseA21792
contig referenceGTrp [W]21792
1695296545518 rs1289850250 N.D. synonymousCSer [S]31791
contig referenceTSer [S]31791
1695296555517 rs767633017 0.000 missenseTPhe [F]21791
contig referenceCSer [S]21791
1695296575515 rs373101677 0.000byCluster YesmissenseAArg [R]31790
contig referenceTSer [S]31790
1695296615511 rs756202861 0.000byFreq missenseAGln [Q]21789
contig referenceGArg [R]21789
1695296625510 rs201790842 0.000byCluster YesnonsenseT11789
contig referenceCArg [R]11789
1695296645508 rs749256732 0.000 missenseTPhe [F]21788
contig referenceCSer [S]21788
1695296685504 rs1335482208 N.D. missenseGGlu [E]11787
contig referenceALys [K]11787
1695296765496 rs894529243 N.D. missenseGCys [C]21784
contig referenceATyr [Y]21784
1695296805492 rs529796831 N.D.byCluster missenseAAsn [N]11783
contig referenceTTyr [Y]11783
1695296815491 rs757157034 0.000byCluster nonsenseA31782
contig referenceGTrp [W]31782
1695296915481 rs914981522 N.D. missenseGArg [R]21779
contig referenceALys [K]21779
1695296955477 rs886045544 N.D.byCluster Uncertain significancemissenseCGln [Q]11778
contig referenceGGlu [E]11778
1695296965475 rs1464746280 N.D. frame shiftAGlu [E]21777
contig reference-Asp [D]21777
1695296965476 rs1466972615 N.D. synonymousCAsp [D]31777
contig referenceTAsp [D]31777
1695297015471 rs548238043 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]11776
contig referenceTPhe [F]11776
1695297025470 rs1244371915 N.D. synonymousTThr [T]31775
contig referenceCThr [T]31775
1695297035469 rs1472089416 N.D. missenseAAsn [N]21775
contig referenceCThr [T]21775
1695297045468 rs776143099 N.D. missenseGAla [A]11775
contig referenceAThr [T]11775
1695297075464 rs1181731657 N.D. frame shiftTTyr [Y]31774
contig reference-Met [M]31774
1695297115461 rs745638757 0.000 synonymousCLeu [L]31772
synonymousGLeu [L]31772
contig referenceALeu [L]31772
1695297195453 rs374815777 0.000byCluster YesUncertain significancemissenseAIle [I]11770
contig referenceGVal [V]11770
1695297295443 rs771823969 0.000 missenseAIle [I]31766
contig referenceGMet [M]31766
1695297315441 rs1466467124 N.D. missenseCLeu [L]11766
contig referenceAMet [M]11766
1695297365436 rs1485149097 N.D. missenseCThr [T]21764
contig referenceTMet [M]21764
1695297375435 rs6030 0.446byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.3087 YesLikely benignmissenseGVal [V]11764
contig referenceAMet [M]11764
1695297425430 rs530654635 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]21762
missenseCThr [T]21762
contig referenceTMet [M]21762
1695297445428 rs776238126 0.000 synonymousTAsn [N]31761
contig referenceCAsn [N]31761
1695297575415 rs763591592 0.000 missenseGArg [R]21757
contig referenceAHis [H]21757
1695297585414 rs922306992 N.D. missenseTTyr [Y]11757
contig referenceCHis [H]11757
1695297625410 rs41272455 0.002byClusterbyFreq YesmissenseGMet [M]31755
contig referenceAIle [I]31755
1695297645408 rs774833769 0.000 missenseGVal [V]11755
contig referenceAIle [I]11755
1695297655407 rs759827034 0.000byFreq synonymousTGly [G]31754
contig referenceAGly [G]31754
1695297665406 rs767869864 0.000byFreq missenseAGlu [E]21754
missenseCAla [A]21754
contig referenceGGly [G]21754
1695297665406 rs1030984228 N.D. frame shift-Glu [E]21754
contig referenceGGly [G]21754
1695297675405 rs1260381333 N.D. missenseCArg [R]11754
contig referenceGGly [G]11754
1695297685404 rs80293134 0.500 YessynonymousGLys [K]31753
contig referenceALys [K]31753
1695297715401 rs1181959892 N.D. missenseCHis [H]31752
contig referenceAGln [Q]31752
1695297735399 rs1235160944 N.D. nonsenseT11752
contig referenceCGln [Q]11752
1695297815391 rs1286743360 N.D. missenseAGln [Q]21749
contig referenceTLeu [L]21749
1695297825390 rs6034 0.005byClusterbyFreqWith1000GenomeData0.0024 YesmissenseGVal [V]11749
contig referenceCLeu [L]11749
1695297835389 rs756292631 0.000 synonymousGLeu [L]31748
synonymousTLeu [L]31748
contig referenceCLeu [L]31748
1695297885384 rs764200671 0.000byFreq missenseGAla [A]11747
missenseTSer [S]11747
contig referenceCPro [P]11747
1695297935379 rs200440114 0.002 YesmissenseCThr [T]21745
contig referenceTIle [I]21745
1695297965376 rs570184152 0.000With1000GenomeData0.0002 missenseCSer [S]21744
contig referenceTLeu [L]21744
1695297995373 rs1419944628 N.D. missenseTVal [V]21743
contig referenceGGly [G]21743
1695298085364 rs1210070876 N.D. missenseCThr [T]21740
contig referenceTIle [I]21740
1695298115361 rs757244704 0.000 missenseGGly [G]21739
contig referenceAAsp [D]21739
1695298125360 rs778710537 0.000byFreq missenseAAsn [N]11739
contig referenceGAsp [D]11739
1695298155357 rs745751866 0.000byFreq missenseGGlu [E]11738
contig referenceALys [K]11738
1695307865353 rs1278767900 N.D. synonymousGPro [P]31736
contig referenceAPro [P]31736
1695307885351 rs779750353 0.000byFreq missenseAThr [T]11736
contig referenceCPro [P]11736
1695307925347 rs902841300 N.D. synonymousAVal [V]31734
contig referenceGVal [V]31734
1695307945345 rs751374985 0.000 missenseAMet [M]11734
missenseTLeu [L]11734
contig referenceGVal [V]11734
1695307985341 rs1329536113 N.D. synonymousTSer [S]31732
contig referenceASer [S]31732
1695308015338 rs1436297908 N.D. synonymousTTyr [Y]31731
contig referenceCTyr [Y]31731
1695308055334 rs118203907 0.000byCluster YesPathogenicmissenseGCys [C]21730
contig referenceATyr [Y]21730
1695308155324 rs1373568214 N.D. missenseAThr [T]11727
contig referenceGAla [A]11727
1695308175322 rs369516642 0.000byClusterbyFreq YesLikely benignmissenseAGln [Q]21726
missenseCPro [P]21726
contig referenceGArg [R]21726
1695308185321 rs202197877 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTTrp [W]11726
contig referenceCArg [R]11726
1695308215318 rs895670850 N.D. missenseCArg [R]11725
contig referenceTCys [C]11725
1695308295310 rs555617221 0.000With1000GenomeData0.0002 missenseAAsp [D]21722
missenseTVal [V]21722
contig referenceGGly [G]21722
1695308315308 rs1306329421 N.D. synonymousCPro [P]31721
contig referenceTPro [P]31721
1695308435296 rs777300323 0.000 synonymousTGly [G]31717
contig referenceGGly [G]31717
1695308455294 rs376296101 0.000byCluster YesmissenseAArg [R]11717
contig referenceGGly [G]11717
1695308485291 rs146740336 0.000byCluster YesmissenseAThr [T]11716
contig referenceTSer [S]11716
1695308505289 rs1194089741 N.D. missenseAGln [Q]21715
contig referenceGArg [R]21715
1695308515288 rs746405100 0.000 nonsenseT11715
contig referenceCArg [R]11715
1695308525287 rs1191204752 N.D. synonymousAGlu [E]31714
contig referenceGGlu [E]31714
1695308605279 rs1447393750 N.D. missenseAThr [T]11712
contig referenceGAla [A]11712
1695308615278 rs772610762 0.000 missenseGGln [Q]31711
contig referenceTHis [H]31711
1695308695270 rs775890784 0.000byFreq missenseAIle [I]11709
contig referenceGVal [V]11709
1695308705269 rs199568344 0.000byClusterbyFreq YesUncertain significancesynonymousTTyr [Y]31708
contig referenceCTyr [Y]31708
1695308735265 rs779490602 0.000byCluster frame shift-Ile [I]21707
contig referenceCCThr [T]21707
1695308745265 rs1217806029 N.D. missenseAAsn [N]21707
missenseTIle [I]21707
contig referenceCThr [T]21707
1695308755264 rs768940817 0.000 missenseTSer [S]11707
contig referenceAThr [T]11707
1695308805259 rs1388922158 N.D. frame shift-Ile [I]21705
contig referenceGSer [S]21705
1695308815258 rs918497264 N.D. missenseCArg [R]11705
contig referenceASer [S]11705
1695308825257 rs776851493 0.000 synonymousTSer [S]31704
contig referenceCSer [S]31704
1695308835256 rs1397179095 N.D. missenseAAsn [N]21704
contig referenceGSer [S]21704
1695308865253 rs1433281334 N.D. missenseGSer [S]21703
contig referenceAAsn [N]21703
1695308925247 rs963586856 N.D. missenseCPro [P]21701
missenseGArg [R]21701
contig referenceAGln [Q]21701
1695308945245 rs1327498328 N.D. synonymousCVal [V]31700
contig referenceTVal [V]31700
1695308955244 rs761972125 0.000 missenseCAla [A]21700
contig referenceTVal [V]21700
1695308995240 rs1281908528 N.D. missenseAThr [T]11699
contig referenceGAla [A]11699
1695309005238 rs1354967271 N.D. frame shiftALys [K]21698
contig reference-Asn [N]21698
1695309065233 rs1213964987 N.D. missenseTAsp [D]31696
contig referenceAGlu [E]31696
1695309105229 rs1371994052 N.D. missenseGArg [R]21695
contig referenceALys [K]21695
1695309115228 rs1274612002 N.D. missenseGGlu [E]11695
contig referenceALys [K]11695
1695309155224 rs765262751 0.000 missenseTCys [C]31693
contig referenceGTrp [W]31693
1695309185221 rs1026769670 N.D. synonymousGGlu [E]31692
contig referenceAGlu [E]31692
1695309275212 rs1207845675 N.D. missenseAGlu [E]31689
contig referenceCAsp [D]31689
1695309345205 rs750482599 0.000 missenseGGly [G]21687
contig referenceAGlu [E]21687
1695309355204 rs201556325 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALys [K]11687
missenseCGln [Q]11687
contig referenceGGlu [E]11687
1695309365203 rs1430228886 N.D. synonymousCTyr [Y]31686
contig referenceTTyr [Y]31686
1695309385201 rs746978299 0.000 frame shift-Met [M]11686
contig referenceTTyr [Y]11686
1695309405199 rs6011 0.005byClusterbyFreqWith1000GenomeData0.0024 YesUncertain significancemissenseGSer [S]21685
contig referenceCThr [T]21685
1695309415198 rs1474897263 N.D. missenseGAla [A]11685
contig referenceAThr [T]11685
1695309495190 rs751462892 0.000 missenseCAla [A]21682
contig referenceAGlu [E]21682
1695309515188 rs987542246 N.D. synonymousCSer [S]31681
synonymousGSer [S]31681
contig referenceASer [S]31681
1695309545185 rs182346302 0.000With1000GenomeData YessynonymousGSer [S]31680
contig referenceASer [S]31680
1695309565182 rs754982088 0.000byClusterbyFreq Pathogenicframe shiftAIle [I]31680
contig reference-Ser [S]31680
1695309565183 rs781088754 0.000 missenseCPro [P]11680
contig referenceTSer [S]11680
1695309575182 rs1405407449 N.D. synonymousGLys [K]31679
contig referenceALys [K]31679
1695309645175 rs752431648 0.000byFreq missenseGCys [C]21677
contig referenceATyr [Y]21677
1695309675172 rs1386383851 N.D. missenseTPhe [F]21676
contig referenceCSer [S]21676
1695309685171 rs755763491 0.000 missenseCPro [P]11676
contig referenceTSer [S]11676
1695309705169 rs777199135 0.000 missenseCPro [P]21675
contig referenceTLeu [L]21675
1695309725167 rs6010 0.137byClusterbyFreqWith1000GenomeData0.0974 YesLikely benignsynonymousGGly [G]31674
contig referenceAGly [G]31674
1695309755164 rs373570992 0.000byCluster YessynonymousCHis [H]31673
contig referenceTHis [H]31673
1695309765163 rs1233341681 N.D. missenseGArg [R]21673
contig referenceAHis [H]21673
1695309805159 rs1294790083 N.D. missenseAThr [T]11672
contig referenceGAla [A]11672
1695309825157 rs1326641450 N.D. missenseGArg [R]21671
contig referenceAHis [H]21671
1695309835156 rs866436073 N.D. missenseTTyr [Y]11671
contig referenceCHis [H]11671
1695309855154 rs780544421 0.000 missenseGArg [R]21670
contig referenceTLeu [L]21670
1695309885151 rs1176241932 N.D. missenseTPhe [F]21669
contig referenceCSer [S]21669
1695309895150 rs1261109995 N.D. missenseCPro [P]11669
contig referenceTSer [S]11669
1695309935146 rs747456938 0.000byFreq synonymousAPro [P]31667
contig referenceGPro [P]31667
1695309945145 rs200157005 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTLeu [L]21667
contig referenceCPro [P]21667
1695310005139 rs374124232 0.000 YesmissenseATyr [Y]21665
contig referenceCSer [S]21665
1695310025137 rs375249890 0.000byClusterbyFreq YessynonymousTAla [A]31664
contig referenceAAla [A]31664
1695310055134 rs770031806 0.000 synonymousGLeu [L]31663
contig referenceALeu [L]31663
1695310095130 rs762962271 N.D. missenseGSer [S]21662
contig referenceAAsn [N]21662
1695310145125 rs1485411548 N.D. missenseALeu [L]31660
contig referenceTPhe [F]31660
1695310185121 rs368401109 0.000byCluster YesmissenseAHis [H]21659
contig referenceGArg [R]21659
1695310195120 rs1420378531 N.D. missenseTCys [C]11659
contig referenceCArg [R]11659
1695365105112 rs1435903927 N.D. missenseCThr [T]21656
contig referenceTIle [I]21656
1695365145108 rs1337927588 N.D. missenseAIle [I]11655
contig referenceGVal [V]11655
1695365175105 rs755444793 0.000 missenseCHis [H]11654
contig referenceGAsp [D]11654
1695365185104 rs886045546 N.D.byCluster Uncertain significancemissenseAGlu [E]31653
contig referenceTAsp [D]31653
1695365215101 rs1460998046 N.D. synonymousTVal [V]31652
contig referenceGVal [V]31652
1695365225100 rs781582281 0.000 missenseCAla [A]21652
contig referenceTVal [V]21652
1695365285094 rs753691316 0.000byFreq missenseTVal [V]21650
contig referenceCAla [A]21650
1695365295093 rs1401861206 N.D. missenseAThr [T]11650
contig referenceGAla [A]11650
1695365305092 rs769973165 0.000 missenseTSer [S]31649
synonymousGArg [R]31649
contig referenceAArg [R]31649
1695365315091 rs773484741 0.000byFreq missenseCThr [T]21649
contig referenceGArg [R]21649
1695365355087 rs749425147 0.000 missenseCLeu [L]11648
missenseGVal [V]11648
missenseTPhe [F]11648
contig referenceAIle [I]11648
1695365385084 rs771170519 0.000 missenseGVal [V]11647
contig referenceAIle [I]11647
1695365525070 rs774544550 0.000 missenseTVal [V]21642
contig referenceGGly [G]21642
1695365535069 rs866997995 N.D.byCluster missenseAArg [R]11642
contig referenceGGly [G]11642
1695365545068 rs116809837 0.002byClusterbyFreqWith1000GenomeData0.0030 YessynonymousTLeu [L]31641
contig referenceCLeu [L]31641
1695365575065 rs757063620 0.000byFreq missenseAGln [Q]31640
contig referenceTHis [H]31640
1695365615061 rs1252175050 N.D. missenseGGly [G]21639
contig referenceAGlu [E]21639
1695365695053 rs1033375366 N.D. synonymousAGlu [E]31636
contig referenceGGlu [E]31636
1695365705052 rs1260594251 N.D. missenseGGly [G]21636
contig referenceAGlu [E]21636
1695365725050 rs955237168 N.D. synonymousAGly [G]31635
contig referenceGGly [G]31635
1695365765046 rs775216452 0.000 missenseAGln [Q]21634
contig referenceGArg [R]21634
1695365775045 rs760525448 0.000byFreq nonsenseT11634
contig referenceCArg [R]11634
1695365805042 rs763740908 0.000 missenseTSer [S]11633
contig referenceCPro [P]11633
1695365855037 rs1388829757 N.D. missenseAHis [H]21631
contig referenceGArg [R]21631
1695365865036 rs771962686 0.000byClusterbyFreq missenseTCys [C]11631
contig referenceCArg [R]11631
1695365995023 rs1170522809 N.D. synonymousTSer [S]31626
contig referenceCSer [S]31626
1695366015021 rs748030997 0.000 frame shift-Ala [A]11626
contig referenceASer [S]11626
1695366045018 rs914900338 N.D. missenseAAsn [N]11625
missenseCHis [H]11625
contig referenceGAsp [D]11625
1695366055017 rs200569225 0.000byClusterbyFreq YessynonymousTLeu [L]31624
contig referenceCLeu [L]31624
1695366065016 rs1449955421 N.D. missenseCPro [P]21624
contig referenceTLeu [L]21624
1695366155007 rs764766417 0.000byFreq missenseAGln [Q]21621
contig referenceGArg [R]21621
1695366225000 rs1442801855 N.D. missenseAIle [I]11619
contig referenceGVal [V]11619
1695366234999 rs368886239 0.000byCluster YessynonymousCVal [V]31618
contig referenceAVal [V]31618
1695366294993 rs749911962 0.000 synonymousALys [K]31616
contig referenceGLys [K]31616
1695366324990 rs368941592 0.000 synonymousCTyr [Y]31615
contig referenceTTyr [Y]31615
1695366334989 rs755533777 0.000byFreq missenseGCys [C]21615
contig referenceATyr [Y]21615
1695366344988 rs143397427 0.000With1000GenomeData0.0002 missenseCHis [H]11615
contig referenceTTyr [Y]11615
1695366404982 rs922549442 N.D. missenseGAla [A]11613
contig referenceAThr [T]11613
1695366424980 rs141589936 0.000byClusterbyFreqWith1000GenomeData0.0008 Uncertain significancemissenseTVal [V]21612