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dbSNP

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SNP linked to Gene (geneID:8398) 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): 27
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_003560.2minus strandNP_003551.2reverseNT_011520.13GRCh38.p7<- currently shown
XM_017028988.1minus strandXP_016884477.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028987.1minus strandXP_016884476.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028986.1minus strandXP_016884475.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028985.1minus strandXP_016884474.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028984.1minus strandXP_016884473.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028983.1minus strandXP_016884472.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028982.1minus strandXP_016884471.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_017028981.1minus strandXP_016884470.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011530426.2minus strandXP_011528728.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011530425.1minus strandXP_011528727.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011530424.1minus strandXP_011528726.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011530423.1minus strandXP_011528725.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_011530422.1minus strandXP_011528724.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_006724332.3minus strandXP_006724395.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_005261766.1minus strandXP_005261823.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_005261765.1minus strandXP_005261822.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
XM_005261764.2minus strandXP_005261821.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_003560.3minus strandNP_003551.2reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001349869.1minus strandNP_001336798.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001349868.1minus strandNP_001336797.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001349867.1minus strandNP_001336796.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001349866.1minus strandNP_001336795.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001349865.1minus strandNP_001336794.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001349864.1minus strandNP_001336793.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001199562.2minus strandNP_001186491.1reverseNT_011520.13GRCh38.p7View snp on GeneModel
NM_001004426.2minus strandNP_001004426.1reverseNT_011520.13GRCh38.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_011520.13NM_003560.2NP_003551.2reverseminus strand867, 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
381121622556 rs770730885 0.000 synonymousA2807
CSer [S]2807
contig referenceG2807
381121642554 rs35537874 N.D. frame shift-Glu [E]3807
contig referenceC3807
381121652553 rs140758033 0.004byClusterbyFreqWith1000GenomeData0.0030 Likely benignmissenseGArg [R]2806
contig referenceCPro [P]2806
381121662552 rs745664459 0.000byFreq missenseTSer [S]1806
contig referenceCPro [P]1806
381121702548 rs1298842870 N.D. synonymousGLeu [L]3804
synonymousTLeu [L]3804
contig referenceCLeu [L]3804
381121722546 rs868205860 N.D.byCluster missenseTPhe [F]1804
contig referenceCLeu [L]1804
381121732545 rs1444616871 N.D. synonymousALeu [L]3803
contig referenceGLeu [L]3803
381121752543 rs772061693 0.000 synonymousTLeu [L]1803
contig referenceCLeu [L]1803
381121762542 rs775266092 0.000 synonymousALeu [L]3802
synonymousTLeu [L]3802
contig referenceGLeu [L]3802
381121782540 rs1473044182 N.D. synonymousTLeu [L]1802
contig referenceCLeu [L]1802
381121812537 rs760705741 0.000 nonsenseT1801
contig referenceCGln [Q]1801
381121862532 rs587784354 N.D. Likely pathogenicmissenseAHis [H]2799
contig referenceTLeu [L]2799
381121872531 rs1410015067 N.D. missenseTPhe [F]1799
contig referenceCLeu [L]1799
381121882530 rs764039953 0.000 synonymousALys [K]3798
contig referenceGLys [K]3798
381121932525 rs1173200526 N.D. nonsenseT1797
contig referenceCGln [Q]1797
381121982520 rs776793367 0.000 missenseTVal [V]2795
contig referenceAGlu [E]2795
381122012517 rs933380615 N.D. missenseGGly [G]2794
missenseTVal [V]2794
contig referenceAGlu [E]2794
381122022516 rs761961717 0.000byFreq missenseALys [K]1794
missenseCGln [Q]1794
contig referenceGGlu [E]1794
381122032515 rs765446322 0.000byFreq synonymousGArg [R]3793
synonymousTArg [R]3793
contig referenceCArg [R]3793
381122042514 rs530351387 0.000byFreqWith1000GenomeData0.0002 missenseAHis [H]2793
missenseTLeu [L]2793
contig referenceGArg [R]2793
381122052513 rs766818779 0.000byFreq missenseTCys [C]1793
contig referenceCArg [R]1793
381122062512 rs751982449 0.000 missenseAGln [Q]3792
contig referenceCHis [H]3792
381122072511 rs893021938 N.D. missenseCPro [P]2792
missenseGArg [R]2792
contig referenceAHis [H]2792
381122112506 rs587784353 0.000byClusterbyFreq Pathogenicframe shift-3790
contig referenceTGTyr [Y]3790
381122122506 rs121908680 0.000byClusterbyFreq PathogenicnonsenseG3790
contig referenceTTyr [Y]3790
381122132505 rs149605475 0.000byClusterbyFreq missenseGCys [C]2790
contig referenceATyr [Y]2790
381122152503 rs150093048 0.000With1000GenomeData0.0002 synonymousTIle [I]3789
contig referenceCIle [I]3789
381122182500 rs748821599 0.000byCluster Uncertain significancesynonymousTTyr [Y]3788
contig referenceCTyr [Y]3788
381122232495 rs756904560 0.000 missenseAIle [I]1787
missenseCLeu [L]1787
contig referenceGVal [V]1787
381122262492 rs778705470 0.000byFreq missenseALys [K]1786
contig referenceGGlu [E]1786
381122272491 rs146591896 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousTThr [T]3785
contig referenceCThr [T]3785
381122282490 rs771731816 0.000 missenseAAsn [N]2785
contig referenceCThr [T]2785
381122332485 rs775386225 0.000 nonsenseA3783
contig referenceGTrp [W]3783
381122392479 rs1437439194 N.D. synonymousTAla [A]3781
contig referenceCAla [A]3781
381122402478 rs376089103 0.000byCluster missenseGGly [G]2781
contig referenceCAla [A]2781
381122412477 rs139093920 0.000byCluster missenseAThr [T]1781
contig referenceGAla [A]1781
381122422476 rs138683183 0.016byClusterbyFreqWith1000GenomeData0.0040 Likely benignsynonymousTAsn [N]3780
contig referenceCAsn [N]3780
381122432475 rs1171614044 N.D. missenseCThr [T]2780
missenseGSer [S]2780
contig referenceAAsn [N]2780
381122472471 rs1394402504 N.D. missenseTPhe [F]1779
contig referenceGVal [V]1779
381122542463 rs587784352 N.D. Pathogenicframe shift-Ser [S]2776
contig referenceCAThr [T]2776
381122562462 rs1407617238 N.D. missenseGAla [A]1776
contig referenceAThr [T]1776
381122612457 rs34184838 0.498byClusterbyFreq missenseCThr [T]2774
contig referenceGSer [S]2774
381122652453 rs1430217908 N.D. missenseAIle [I]1773
contig referenceGVal [V]1773
381122662452 rs761874020 0.000 missenseTAsp [D]3772
contig referenceGGlu [E]3772
381122712447 rs1368342830 N.D. missenseAAsn [N]1771
contig referenceGAsp [D]1771
381122742444 rs765356472 0.000 missenseAMet [M]1770
contig referenceCLeu [L]1770
381122762442 rs773403661 0.000 missenseCThr [T]2769
contig referenceTMet [M]2769
381122772441 rs763205259 0.000 missenseGVal [V]1769
contig referenceAMet [M]1769
381122842434 rs766616183 0.000 synonymousAThr [T]3766
contig referenceGThr [T]3766
381122852433 rs201208246 0.000byClusterbyFreq missenseTMet [M]2766
contig referenceCThr [T]2766
381122872431 rs1343460465 N.D. synonymousAGly [G]3765
contig referenceGGly [G]3765
381122882430 rs1231136325 N.D. missenseAGlu [E]2765
contig referenceGGly [G]2765
381122892429 rs267606245 N.D.byCluster missenseAArg [R]1765
contig referenceGGly [G]1765
381122952423 rs373493102 0.000byCluster nonsenseT1763
contig referenceCGln [Q]1763
381122952423 rs1272868054 N.D. frame shift-Ser [S]1763
contig referenceCGln [Q]1763
381122972421 rs768074348 0.000 missenseAHis [H]2762
contig referenceCPro [P]2762
381122992418 rs1470407114 N.D. frame shiftALys [K]2761
contig reference-Asn [N]2761
381123042414 rs1233618653 N.D. synonymousCLeu [L]1760
contig referenceTLeu [L]1760
381125192397 rs764789953 0.000byCluster missenseAAsp [D]2754
missenseTVal [V]2754
contig referenceGGly [G]2754
381125202396 rs963927447 N.D. missenseASer [S]1754
contig referenceGGly [G]1754
381125212395 rs749966284 0.000 Uncertain significancesynonymousTVal [V]3753
contig referenceCVal [V]3753
381125232393 rs1289082887 N.D. missenseTPhe [F]1753
contig referenceGVal [V]1753
381125242392 rs1331383014 N.D. missenseAIle [I]3752
contig referenceGMet [M]3752
381125272389 rs544263173 0.000With1000GenomeData0.0002 synonymousAGlu [E]3751
contig referenceGGlu [E]3751
381125292387 rs1296348337 N.D. missenseALys [K]1751
contig referenceGGlu [E]1751
381125302386 rs779749576 0.000byFreq synonymousTCys [C]3750
contig referenceCCys [C]3750
381125312385 rs751225193 0.000 missenseATyr [Y]2750
contig referenceGCys [C]2750
381125342382 rs587784351 N.D. Likely pathogenicmissenseCSer [S]2749
contig referenceGTrp [W]2749
381125352381 rs1200843545 N.D. missenseAArg [R]1749
contig referenceTTrp [W]1749
381125402376 rs376144077 0.000byCluster missenseAGln [Q]2747
contig referenceGArg [R]2747
381125412375 rs121908687 0.000byCluster PathogenicmissenseTTrp [W]1747
contig referenceCArg [R]1747
381125442372 rs563222818 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]1746
missenseTSer [S]1746
contig referenceGAla [A]1746
381125462370 rs368514303 0.000byCluster missenseAGln [Q]2745
contig referenceGArg [R]2745
381125472369 rs587784350 N.D.byCluster PathogenicmissenseTTrp [W]1745
contig referenceCArg [R]1745
381125552361 rs1442328449 N.D. missenseTVal [V]2742
contig referenceCAla [A]2742
381125582358 rs121908686 0.000byClusterbyFreq PathogenicmissenseAGln [Q]2741
contig referenceGArg [R]2741
381125592357 rs530348521 0.000With1000GenomeData0.0002 PathogenicmissenseTTrp [W]1741
contig referenceCArg [R]1741
381125622354 rs746013568 N.D. missenseAArg [R]1740
contig referenceGGly [G]1740
381125632353 rs548439730 0.000With1000GenomeData0.0002 synonymousTAsp [D]3739
contig referenceCAsp [D]3739
381125652351 rs587784349 N.D.byCluster PathogenicmissenseCHis [H]1739
contig referenceGAsp [D]1739
381125712345 rs772143897 N.D. missenseTTyr [Y]1737
contig referenceGAsp [D]1737
381125722344 rs770983765 0.000 synonymousAThr [T]3736
contig referenceGThr [T]3736
381125732343 rs1414538273 N.D. missenseGArg [R]2736
missenseTMet [M]2736
contig referenceCThr [T]2736
381125762340 rs1483584740 N.D. missenseTPhe [F]2735
contig referenceGCys [C]2735
381134932332 rs1350677479 N.D. synonymousAVal [V]3732
contig referenceGVal [V]3732
381135022323 rs1459543347 N.D. synonymousALys [K]3729
contig referenceGLys [K]3729
381135032322 rs778888265 0.000byFreq missenseGArg [R]2729
contig referenceALys [K]2729
381135152310 rs368468197 0.000byCluster missenseGArg [R]2725
contig referenceALys [K]2725
381135202305 rs1166637335 N.D. synonymousAGly [G]3723
contig referenceGGly [G]3723
381135222303 rs772436610 0.000 missenseCArg [R]1723
contig referenceGGly [G]1723
381135232302 rs1281282603 N.D. frame shift-Leu [L]3722
contig referenceTPhe [F]3722
381135272298 rs775929222 0.000byFreq missenseCAla [A]2721
contig referenceTVal [V]2721
381135302295 rs747370054 0.000 missenseTIle [I]2720
contig referenceCThr [T]2720
381135322293 rs1324916801 N.D. synonymousALys [K]3719
contig referenceGLys [K]3719
381135372288 rs371872005 0.000byCluster missenseAThr [T]1718
contig referenceGAla [A]1718
381135402285 rs1294455462 N.D. missenseAMet [M]1717
contig referenceCLeu [L]1717
381135412284 rs1321927248 N.D. synonymousAGlu [E]3716
contig referenceGGlu [E]3716
381135472278 rs1215043127 N.D. synonymousTPro [P]3714
contig referenceCPro [P]3714
381135512274 rs777169921 0.000 missenseGSer [S]2713
contig referenceAAsn [N]2713
381135532272 rs762265161 0.000 synonymousTSer [S]3712
contig referenceCSer [S]3712
381135552270 rs1175863772 N.D. missenseCArg [R]1712
contig referenceASer [S]1712
381135572268 rs199784053 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2711
contig referenceCPro [P]2711
381135602265 rs147455037 0.000byCluster Likely pathogenicmissenseAHis [H]2710
contig referenceGArg [R]2710
381135612264 rs587784347 0.000byClusterbyFreq Likely pathogenicmissenseTCys [C]1710
contig referenceCArg [R]1710
381135612264 rs775637512 0.000 frame shift-Val [V]1710
contig referenceCArg [R]1710
381135622263 rs267606246 N.D.byCluster synonymousTPhe [F]3709
contig referenceCPhe [F]3709
381135652260 rs759131158 0.000byFreq synonymousGVal [V]3708
contig referenceCVal [V]3708
381135662258 rs1477542238 N.D. ATGAsp [D]1707
381135742251 rs767161402 0.000byFreq synonymousCCys [C]3705
contig referenceTCys [C]3705
381135752250 rs1026518177 N.D. missenseTPhe [F]2705
contig referenceGCys [C]2705
381135842241 rs375566643 0.000byCluster missenseGArg [R]2702
contig referenceCPro [P]2702
381135852240 rs546061827 0.000byFreqWith1000GenomeData0.0002 missenseTSer [S]1702
contig referenceCPro [P]1702
381135862239 rs369816711 0.000byCluster synonymousAVal [V]3701
synonymousCVal [V]3701
contig referenceGVal [V]3701
381135882237 rs1425743942 N.D. missenseAMet [M]1701
contig referenceGVal [V]1701
381135892236 rs1189276477 N.D. missenseCHis [H]3700
contig referenceAGln [Q]3700
381135912234 rs587784346 0.000byCluster PathogenicnonsenseT1700
contig referenceCGln [Q]1700
381135962229 rs1393761576 N.D. missenseTPhe [F]2698
contig referenceCSer [S]2698
381136002225 rs148494213 0.000byCluster missenseTTrp [W]1697
contig referenceAArg [R]1697
381136032222 rs1321215669 N.D. missenseAArg [R]1696
contig referenceGGly [G]1696
381136072218 rs1313743937 N.D. synonymousAGly [G]3694
synonymousTGly [G]3694
contig referenceGGly [G]3694
381136182207 rs587784345 N.D.byCluster Uncertain significancemissenseAIle [I]1691
contig referenceGVal [V]1691
381136192204 rs587784343 N.D.byCluster Pathogenic-1691
381136212204 rs141777179 0.001byClusterbyFreqWith1000GenomeData0.0002 Uncertain significancemissenseAIle [I]1690
contig referenceGVal [V]1690
381136222203 rs757162306 0.000 synonymousTIle [I]3689
contig referenceCIle [I]3689
381136232202 rs587784342 N.D.byCluster Uncertain significancemissenseGSer [S]2689
contig referenceTIle [I]2689
381136292196 rs1269328218 N.D. missenseCPro [P]2687
contig referenceTLeu [L]2687
381136362189 rs1379480599 N.D. missenseGGlu [E]1685
contig referenceALys [K]1685
381136372188 rs531895866 0.000With1000GenomeData0.0002 synonymousAVal [V]3684
contig referenceGVal [V]3684
381136392186 rs914919612 N.D. missenseAMet [M]1684
missenseCLeu [L]1684
contig referenceGVal [V]1684
381136402185 rs201346537 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousALys [K]3683
contig referenceGLys [K]3683
381136422183 rs1241210149 N.D. missenseGGlu [E]1683
contig referenceALys [K]1683
381136432182 rs1470286800 N.D. missenseALys [K]3682
contig referenceCAsn [N]3682
381136482177 rs1333590981 N.D. missenseTSer [S]1681
contig referenceGAla [A]1681
381136502175 rs199950260 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]2680
contig referenceAGln [Q]2680
381136512174 rs758614116 0.000 nonsenseT1680
contig referenceCGln [Q]1680
381136542171 rs886057501 N.D.byCluster Uncertain significancemissenseCArg [R]1679
contig referenceGGly [G]1679
381155272170 rs749757274 0.000 synonymousALys [K]3678
contig referenceGLys [K]3678
381155282169 rs1245708332 N.D. missenseGArg [R]2678
contig referenceALys [K]2678
381155312166 rs369038599 0.000byClusterbyFreq Uncertain significancemissenseAHis [H]2677
missenseTLeu [L]2677
contig referenceGArg [R]2677
381155322165 rs746514704 0.000 missenseTCys [C]1677
contig referenceCArg [R]1677
381155332164 rs561645994 0.000With1000GenomeData0.0002 missenseGMet [M]3676
synonymousTIle [I]3676
contig referenceCIle [I]3676
381155362161 rs776124801 0.000 synonymousCLeu [L]3675
contig referenceGLeu [L]3675
381155392158 rs1486126068 N.D. missenseAGlu [E]3674
contig referenceCAsp [D]3674
381155462151 rs369680655 0.000byClusterbyFreq missenseGSer [S]2672
contig referenceAAsn [N]2672
381155512146 rs769434263 0.000 synonymousAGlu [E]3670
contig referenceGGlu [E]3670
381155562141 rs991708493 N.D. missenseGAsp [D]1669
contig referenceCHis [H]1669
381155582139 rs773162246 0.000 missenseCThr [T]2668
contig referenceTIle [I]2668
381155622135 rs762928103 0.000 missenseALys [K]1667
contig referenceGGlu [E]1667
381155632134 rs183446770 0.000byClusterWith1000GenomeData0.0002 synonymousTThr [T]3666
contig referenceCThr [T]3666
381155672130 rs1473961830 N.D. missenseCThr [T]2665
contig referenceTMet [M]2665
381155682129 rs1163553928 N.D. missenseGVal [V]1665
contig referenceAMet [M]1665
381155692128 rs751614625 0.000byFreq synonymousTAla [A]3664
contig referenceCAla [A]3664
381155722125 rs376610322 N.D.byCluster synonymousCAsp [D]3663
contig referenceTAsp [D]3663
381155772120 rs12627857 N.D.withHapMapFreq synonymousTLeu [L]1662
contig referenceCLeu [L]1662
381155782119 rs150572286 0.000byClusterbyFreq synonymousAThr [T]3661
contig referenceGThr [T]3661
381155792118 rs767689496 0.000 missenseTMet [M]2661
contig referenceCThr [T]2661
381155822115 rs547175863 0.000With1000GenomeData0.0002 Likely pathogenicmissenseGArg [R]2660
contig referenceCPro [P]2660
381155832114 rs587784341 N.D. Likely pathogenicmissenseTSer [S]1660
contig referenceCPro [P]1660
381155842113 rs201727354 0.000byClusterWith1000GenomeData0.0002 missenseGLys [K]3659
synonymousTAsn [N]3659
contig referenceCAsn [N]3659
381155852098 rs1325924373 N.D. -3655
381155872110 rs1048444597 N.D. missenseALys [K]3658
contig referenceCAsn [N]3658
381155882109 rs587784340 0.000byClusterbyFreq Likely pathogenicmissenseGSer [S]2658
contig referenceAAsn [N]2658
381155902107 rs764396606 0.000 synonymousTAla [A]3657
contig referenceCAla [A]3657
381155922105 rs1318351016 N.D. missenseAThr [T]1657
contig referenceGAla [A]1657
381155952102 rs908659767 N.D. synonymousTLeu [L]1656
contig referenceCLeu [L]1656
381156042093 rs754204295 0.000byFreq missenseASer [S]1653
missenseTCys [C]1653
contig referenceGGly [G]1653
381156052092 rs779376537 0.000byFreq missenseAGlu [E]3652
synonymousTAsp [D]3652
contig referenceCAsp [D]3652
381156082089 rs1241027436 N.D. synonymousCLeu [L]3651
contig referenceGLeu [L]3651
381156102087 rs1409607872 N.D. synonymousTLeu [L]1651
contig referenceCLeu [L]1651
381156152082 rs1461947940 N.D. missenseAHis [H]2649
contig referenceGArg [R]2649
381156162081 rs746432450 0.000 Uncertain significancemissenseTCys [C]1649
contig referenceCArg [R]1649
381156192078 rs794729212 N.D. Likely pathogenicmissenseAArg [R]1648
contig referenceGGly [G]1648
381156212076 rs754415689 0.000byFreq missenseGSer [S]2647
contig referenceAAsn [N]2647
381156222075 rs1211293038 N.D. missenseGAsp [D]1647
contig referenceAAsn [N]1647
381156272070 rs780784951 0.000byCluster missenseAGln [Q]2645
contig referenceGArg [R]2645
381156282069 rs1484455290 N.D. nonsenseT1645
missenseGGly [G]1645
contig referenceCArg [R]1645
381156322065 rs1041011926 N.D. nonsenseG3643
contig referenceCTyr [Y]3643
381156352062 rs533490649 0.000With1000GenomeData0.0002 synonymousAThr [T]3642
contig referenceTThr [T]3642
381156372060 rs1471912664 N.D. missenseGAla [A]1642
contig referenceAThr [T]1642
381156472050 rs1375028188 N.D. synonymousAGly [G]3638
contig referenceGGly [G]3638
381156482049 rs769498964 0.000 missenseCAla [A]2638
contig referenceGGly [G]2638
381156492048 rs1000303487 N.D. missenseAArg [R]1638
contig referenceGGly [G]1638
381156502047 rs730882214 N.D. Likely pathogenicframe shift-Arg [R]3637
contig referenceCSer [S]3637
381156502047 rs1034806198 N.D. synonymousTSer [S]3637
contig referenceCSer [S]3637
381156502034 rs1346647518 N.D. frame shift-Gly [G]2633
contig reference(14bp)Ala [A]2633
381156542043 rs1216084562 N.D. missenseAAsn [N]2636
contig referenceGSer [S]2636
381156572040 rs387906863 0.000byCluster PathogenicmissenseAGln [Q]2635
missenseTLeu [L]2635
contig referenceGArg [R]2635
381156582039 rs587784339 0.000byCluster PathogenicnonsenseT1635
contig referenceCArg [R]1635
381156592038 rs377488420 0.000byCluster synonymousGAla [A]3634
contig referenceCAla [A]3634
381156622035 rs200280060 0.000byClusterWith1000GenomeData0.0002 synonymousAAla [A]3633
contig referenceGAla [A]3633
381156632034 rs201657455 N.D.byCluster missenseGGly [G]2633
missenseTVal [V]2633
contig referenceCAla [A]2633
381156662031 rs370975770 0.000byCluster missenseAGln [Q]2632
contig referenceGArg [R]2632
381156672030 rs121908683 0.000byClusterbyFreq PathogenicmissenseTTrp [W]1632
contig referenceCArg [R]1632
381156722025 rs1226320099 N.D. missenseAGlu [E]2630
contig referenceTVal [V]2630
381156732024 rs1375695546 N.D. missenseCLeu [L]1630
contig referenceGVal [V]1630
381156762019 rs772024534 0.000 -2628
381156762021 rs772904835 N.D. frame shift-Trp [W]1629
contig referenceCLeu [L]1629
381156772020 rs767459234 0.000 synonymousAGln [Q]3628
contig referenceGGln [Q]3628
381160772013 rs775354024 0.000 missenseTLeu [L]2626
contig referenceCSer [S]2626
381160792011 rs767732261 N.D. synonymousGPro [P]3625
contig referenceCPro [P]3625
381160842006 rs1469319344 N.D. missenseGGlu [E]1624
contig referenceCGln [Q]1624
381160872003 rs760792386 0.000 missenseCPro [P]1623
contig referenceGAla [A]1623
381160991991 rs764204393 0.000byCluster missenseTPhe [F]1619
contig referenceCLeu [L]1619
381161051985 rs139579057 0.000byClusterbyFreq missenseAIle [I]1617
contig referenceGVal [V]1617
381161061984 rs1187445812 N.D. synonymousTAsn [N]3616
contig referenceCAsn [N]3616
381161081981 rs34112430 N.D. frame shiftT3616
contig reference-Asn [N]3616
381161081982 rs762053663 0.000 missenseCHis [H]1616
contig referenceAAsn [N]1616
381161121978 rs976845936 N.D. synonymousTAsn [N]3614
contig referenceCAsn [N]3614
381161121977 rs1190590779 N.D. frame shiftALys [K]2614
contig reference-Asn [N]2614
381161141976 rs765536809 0.000byFreq missenseCHis [H]1614
contig referenceAAsn [N]1614
381161191971 rs200117092 0.000byClusterbyFreq missenseAHis [H]2612
missenseTLeu [L]2612
contig referenceGArg [R]2612
381161201970 rs753792105 0.000byFreq missenseTCys [C]1612
contig referenceCArg [R]1612
381161281962 rs762533381 0.000byClusterbyFreq missenseAGln [Q]2609
contig referenceGArg [R]2609
381161291961 rs199540781 0.000byClusterbyFreq missenseTTrp [W]1609
contig referenceCArg [R]1609
381161361954 rs777465788 0.000byFreq missenseCAsp [D]3606
contig referenceAGlu [E]3606
381161381952 rs753504383 0.000 missenseCGln [Q]1606
contig referenceGGlu [E]1606
381161381952 rs1273963356 N.D. frame shift-Lys [K]1606
contig referenceGGlu [E]1606
381161471943 rs756996512 0.000byFreq missenseAAsn [N]1603
contig referenceGAsp [D]1603
381161481942 rs778516402 0.000byFreq synonymousTTyr [Y]3602
contig referenceCTyr [Y]3602
381161501940 rs1373337922 N.D. missenseAAsn [N]1602
contig referenceTTyr [Y]1602
381161531936 rs776210772 0.000 frame shiftGGlu [E]3601
contig reference-Asn [N]3601
381161551935 rs149712244 0.000byClusterbyFreq PathogenicmissenseAGln [Q]2600
contig referenceGArg [R]2600
381161561934 rs368008077 0.000byClusterbyFreq missenseTTrp [W]1600
contig referenceCArg [R]1600
381161711919 rs780015355 0.000 nonsenseT1595
contig referenceGGlu [E]1595
381161751915 rs746984683 0.000byClusterbyFreq synonymousAPro [P]3593
contig referenceGPro [P]3593
381161761914 rs1451486649 N.D. missenseAGln [Q]2593
missenseGArg [R]2593
missenseTLeu [L]2593
contig referenceCPro [P]2593
381161771913 rs768681156 0.001byFreq missenseGAla [A]1593
contig referenceCPro [P]1593
381161821908 rs776713955 0.000 missenseAGln [Q]2591
contig referenceGArg [R]2591
381161831907 rs1043378899 N.D. missenseTTrp [W]1591
contig referenceCArg [R]1591
381161861901 rs1485023784 N.D. frame shift-Thr [T]1589
contig referenceTCTGSer [S]1589
381161931897 rs761963849 0.000 synonymousGThr [T]3587
contig referenceAThr [T]3587
381161961894 rs1166384791 N.D. synonymousAGly [G]3586
contig referenceGGly [G]3586
381162001890 rs587784338 N.D. PathogenicmissenseTIle [I]2585
contig referenceCThr [T]2585
381162081882 rs146697329 0.000byCluster synonymousAVal [V]3582
contig referenceGVal [V]3582
381162101880 rs1436010432 N.D. missenseTLeu [L]1582
contig referenceGVal [V]1582
381207621875 rs1420696134 N.D. missenseTLeu [L]2580
contig referenceCPro [P]2580
381207691868 rs139186982 0.000byClusterbyFreq missenseGGly [G]1578
contig referenceAArg [R]1578
381207721865 rs767342982 0.000 missenseAIle [I]1577
contig referenceGVal [V]1577
381207731864 rs564308214 0.000byFreqWith1000GenomeData0.0002 synonymousTAsp [D]3576
contig referenceCAsp [D]3576
381207761861 rs200599704 0.000byClusterbyFreqWith1000GenomeData0.0004 Uncertain significancesynonymousAThr [T]3575
contig referenceGThr [T]3575
381207771860 rs144012369 0.000byClusterbyFreq missenseTMet [M]2575
contig referenceCThr [T]2575
381207791858 rs1340096817 N.D. missenseCIle [I]3574
contig referenceGMet [M]3574
381207831854 rs749336318 0.000 missenseGArg [R]2573
contig referenceALys [K]2573
381207841853 rs369470098 0.000byCluster missenseGGlu [E]1573
contig referenceALys [K]1573
381208001837 rs1295158980 N.D. synonymousAGlu [E]3567
contig referenceGGlu [E]3567
381208021835 rs587784337 0.000byCluster PathogenicmissenseALys [K]1567
contig referenceGGlu [E]1567
381208051832 rs549902731 0.000byFreqWith1000GenomeData0.0002 missenseGGly [G]1566
missenseTTrp [W]1566
contig referenceCArg [R]1566
381208061831 rs1027463904 N.D. synonymousALys [K]3565
contig referenceGLys [K]3565
381208121825 rs146415291 0.000byCluster missenseGLeu [L]3563
contig referenceCPhe [F]3563
381208161821 rs751508677 N.D. missenseTVal [V]2562
contig referenceAGlu [E]2562
381208181819 rs149015861 0.000 synonymousAGlu [E]3561
contig referenceGGlu [E]3561
381208221815 rs772522384 0.000 missenseCPro [P]2560
contig referenceTLeu [L]2560
381208241813 rs887630274 N.D. synonymousTPro [P]3559
contig referenceCPro [P]3559
381208271810 rs587784336 N.D.byCluster Pathogenicframe shift-Trp [W]3560
contig referenceGLeu [L]3560
381208271810 rs776015045 0.000 synonymousAGly [G]3558
synonymousTGly [G]3558
contig referenceGGly [G]3558
381208301807 rs747491292 0.000 synonymousASer [S]3557
contig referenceGSer [S]3557
381208311806 rs769047790 0.000byFreq missenseGTrp [W]2557
missenseTLeu [L]2557
contig referenceCSer [S]2557
381208351802 rs777259654 0.000byFreq nonsenseT1556
missenseALys [K]1556
contig referenceGGlu [E]1556
381208361801 rs770478201 0.000byFreq synonymousTTyr [Y]3555
contig referenceCTyr [Y]3555
381208431794 rs1364847543 N.D. missenseALys [K]2553
contig referenceGArg [R]2553
381208461791 rs867819529 N.D. missenseGCys [C]2552
contig referenceCSer [S]2552
381208491788 rs773961836 0.000 missenseTVal [V]2551
contig referenceGGly [G]2551
381208501787 rs1263416047 N.D. missenseTCys [C]1551
contig referenceGGly [G]1551
381208511786 rs374315286 0.000byClusterbyFreq synonymousAArg [R]3550
contig referenceGArg [R]3550
381208521785 rs376051062 0.000byClusterbyFreq missenseAGln [Q]2550
contig referenceGArg [R]2550
381208531784 rs886057502 N.D.byCluster Uncertain significancemissenseTTrp [W]1550
contig referenceCArg [R]1550
381208571780 rs918251529 N.D. synonymousAVal [V]3548
contig referenceGVal [V]3548
381208611776 rs1060499764 N.D. Likely pathogenicmissenseGGly [G]2547
contig referenceAGlu [E]2547
381208631774 rs952349435 N.D. missenseGGlu [E]3546
synonymousCAsp [D]3546
contig referenceTAsp [D]3546
381208651772 rs1314992571 N.D. missenseAAsn [N]1546
contig referenceGAsp [D]1546
381208661771 rs752452448 0.000byFreq synonymousALys [K]3545
contig referenceGLys [K]3545
381208671770 rs121908681 0.000byClusterbyFreq Likely pathogenicmissenseGArg [R]2545
missenseGArg [R]2545
contig referenceALys [K]2545
contig referenceALys [K]2545
381208721765 rs1401112408 N.D. synonymousTArg [R]3543
contig referenceCArg [R]3543
381208731764 rs763937995 0.000byFreq missenseAHis [H]2543
contig referenceGArg [R]2543
381208741763 rs753874848 0.000 missenseTCys [C]1543
contig referenceCArg [R]1543
381208801757 rs757250238 0.000 missenseCHis [H]1541
contig referenceTTyr [Y]1541
381208811756 rs527807604 0.000byCluster missenseAIle [I]3540
contig referenceGMet [M]3540
381208821755 rs1352540560 N.D. missenseGArg [R]2540
contig referenceTMet [M]2540
381208831754 rs1211223654 N.D. missenseCLeu [L]1540
contig referenceAMet [M]1540
381208861751 rs143826762 0.001byClusterbyFreqWith1000GenomeData0.0006 Uncertain significancemissenseASer [S]1539
contig referenceGGly [G]1539
381208871750 rs373930150 0.000byClusterbyFreq synonymousTArg [R]3538
contig referenceCArg [R]3538
381208881749 rs535486098 0.000byClusterWith1000GenomeData0.0002 PathogenicmissenseAHis [H]2538
contig referenceGArg [R]2538
381208891748 rs370691849 0.000byCluster PathogenicmissenseTCys [C]1538
contig referenceCArg [R]1538
381208911746 rs769122831 0.000 missenseCThr [T]2537
contig referenceTMet [M]2537
381208931744 rs183978140 0.000byClusterWith1000GenomeData0.0002 synonymousTTyr [Y]3536
contig referenceCTyr [Y]3536
381209001737 rs1380137702 N.D. missenseCThr [T]2534
contig referenceTMet [M]2534
381209011736 rs748730147 0.000byFreq missenseGVal [V]1534
contig referenceAMet [M]1534
381209021735 rs1175805687 N.D. synonymousTSer [S]3533
contig referenceCSer [S]3533
381209091728 rs770388313 0.000 missenseTIle [I]2531
contig referenceGSer [S]2531
381230981724 rs1169996009 N.D. missenseAAsn [N]1530
contig referenceCHis [H]1530
381230991723 rs1348620928 N.D. synonymousALeu [L]3529
contig referenceGLeu [L]3529
381231061716 rs1422865730 N.D. missenseAAsp [D]2527
contig referenceCAla [A]2527
381231071715 rs1461834469 N.D. missenseCPro [P]1527
contig referenceGAla [A]1527
381231101712 rs1166668741 N.D. synonymousTLeu [L]1526
contig referenceCLeu [L]1526
381231131709 rs587784334 0.000byClusterbyFreq Uncertain significancemissenseAThr [T]1525
missenseTSer [S]1525
contig referenceGAla [A]1525
381231171705 rs1457190587 N.D. synonymousTIle [I]3523
contig referenceCIle [I]3523
381231371685 rs1289140545 N.D. missenseTCys [C]1517
contig referenceGGly [G]1517
381231381684 rs1031583350 N.D. synonymousAAla [A]3516
contig referenceGAla [A]3516
381231391683 rs151108668 0.000byClusterWith1000GenomeData0.0004 missenseTVal [V]2516
contig referenceCAla [A]2516
381231411681 rs1276950556 N.D. synonymousAVal [V]3515
contig referenceGVal [V]3515
381231531669 rs1403119242 N.D. synonymousALeu [L]3511
contig referenceGLeu [L]3511
381231541668 rs1356679312 N.D. missenseCPro [P]2511
contig referenceTLeu [L]2511
381231551667 rs886057503 N.D.byCluster Uncertain significancemissenseGVal [V]1511
contig referenceCLeu [L]1511
381231561666 rs1288341641 N.D. synonymousTAsp [D]3510
contig referenceCAsp [D]3510
381231611660 rs1172241523 N.D. frame shiftCGln [Q]3509
contig reference-Lys [K]3509
381231621660 rs905660569 N.D. synonymousGThr [T]3508
contig referenceCThr [T]3508
381231631659 rs1365584438 N.D. missenseTIle [I]2508
contig referenceCThr [T]2508
381231721650 rs1183054597 N.D. missenseCAla [A]2505
contig referenceGGly [G]2505
381231741648 rs201161254 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]3504
contig referenceGSer [S]3504
381231771645 rs587784333 N.D. Pathogenicframe shift-Arg [R]3504
contig referenceCSer [S]3504
381231781644 rs1216926142 N.D. missenseAAsp [D]2503
contig referenceCAla [A]2503
381231791643 rs1035442267 N.D. missenseTSer [S]1503
contig referenceGAla [A]1503
381231831639 rs1288451155 N.D. synonymousAGlu [E]3501
contig referenceGGlu [E]3501
381231851637 rs587784332 N.D.byCluster PathogenicmissenseCGln [Q]1501
contig referenceGGlu [E]1501
381231861636 rs768283331 0.000 synonymousTIle [I]3500
contig referenceCIle [I]3500
381231871635 rs1240719640 N.D. missenseCThr [T]2500
contig referenceTIle [I]2500
381231911631 rs141045127 0.000byClusterbyFreq missenseAThr [T]1499
contig referenceGAla [A]1499
381231921630 rs983066224 N.D. synonymousTIle [I]3498
contig referenceCIle [I]3498
381231941628 rs1183569433 N.D. missenseGVal [V]1498
contig referenceAIle [I]1498
381231971625 rs587784331 N.D.byCluster Likely pathogenicmissenseTPhe [F]1497
contig referenceCLeu [L]1497
381231981624 rs1423053034 N.D. synonymousTLeu [L]3496
contig referenceCLeu [L]3496
381232001622 rs368487831 0.000byCluster missenseTPhe [F]1496
contig referenceCLeu [L]1496
381232041618 rs573146214 0.001byFreqWith1000GenomeData0.0002 synonymousTIle [I]3494
contig referenceCIle [I]3494
381232051617 rs773338711 0.000 missenseCThr [T]2494
contig referenceTIle [I]2494
381232101612 rs763103296 0.000 synonymousTIle [I]3492
contig referenceCIle [I]3492
381232121610 rs766520356 0.000 missenseGVal [V]1492
contig referenceAIle [I]1492
381232141608 rs1449537489 N.D. missenseGArg [R]2491
contig referenceTLeu [L]2491
381232161606 rs1282991607 N.D. synonymousTGly [G]3490
contig referenceCGly [G]3490
381232191603 rs1379016574 N.D. missenseCAsn [N]3489
contig referenceALys [K]3489
381232211601 rs1326907784 N.D. missenseGGlu [E]1489
contig referenceALys [K]1489
381232261596 rs866165283 N.D.byCluster missenseTVal [V]2487
contig referenceGGly [G]2487
381232301592 rs1224716775 N.D. missenseAArg [R]1486
contig referenceGGly [G]1486
381232321590 rs1311832089 N.D. missenseAGlu [E]2485
contig referenceGGly [G]2485
381232361586 rs1351798585 N.D. missenseCHis [H]1484
contig referenceGAsp [D]1484
381232411581 rs1216236579 N.D. missenseCSer [S]2482
contig referenceGCys [C]2482
381232441578 rs587784330 N.D.byCluster PathogenicmissenseAGln [Q]2481
contig referenceTLeu [L]2481
381232451577 rs1444248236 N.D. missenseGVal [V]1481
contig referenceCLeu [L]1481
381232461576 rs1208052911 N.D. synonymousALeu [L]3480
contig referenceGLeu [L]3480
381232511571 rs1235695530 N.D. missenseGAsp [D]1479
contig referenceCHis [H]1479
381232521570 rs867729807 N.D.byCluster missenseAGlu [E]3478
contig referenceCAsp [D]3478
381232541568 rs751693627 0.000byFreq missenseAAsn [N]1478
missenseCHis [H]1478
missenseTTyr [Y]1478
contig referenceGAsp [D]1478
381232551567 rs1177587316 N.D. missenseGGln [Q]3477
synonymousTHis [H]3477
contig referenceCHis [H]3477
381263711563 rs146684391 0.000byClusterbyFreq missenseTIle [I]2476
contig referenceCThr [T]2476
381263721562 rs780880188 0.000 missenseCPro [P]1476
missenseGAla [A]1476
contig referenceAThr [T]1476
381263741560 rs139184008 0.000byClusterbyFreq Uncertain significancemissenseAGln [Q]2475
missenseTLeu [L]2475
contig referenceGArg [R]2475
381263751559 rs755845373 0.000 missenseTTrp [W]1475
contig referenceCArg [R]1475
381263761558 rs1459409811 N.D. missenseTAsn [N]3474
contig referenceGLys [K]3474
381263811553 rs777645662 0.000byFreq missenseALys [K]1473
contig referenceGGlu [E]1473
381263821552 rs199714835 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTAsp [D]3472
contig referenceCAsp [D]3472
381263841550 rs375874092 0.000byClusterbyFreq Uncertain significancemissenseAAsn [N]1472
contig referenceGAsp [D]1472
381263891545 rs778890839 0.000 missenseCThr [T]2470
contig referenceTMet [M]2470
381263901544 rs201801144 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]1470
contig referenceAMet [M]1470
381263931541 rs772103372 0.000 missenseAThr [T]1469
contig referenceTSer [S]1469
381263961538 rs775557315 0.000 missenseASer [S]1468
contig referenceGGly [G]1468
381263981536 rs760817038 0.000byFreq missenseCPro [P]2467
contig referenceTLeu [L]2467
381264001534 rs768858806 0.000byFreq synonymousTIle [I]3466
contig referenceCIle [I]3466
381264061528 rs776894280 0.000 synonymousAAla [A]3464
contig referenceGAla [A]3464
381264071527 rs376801641 0.000byClusterbyFreq missenseTVal [V]2464
contig referenceCAla [A]2464
381264091525 rs765560166 0.000byCluster synonymousGPro [P]3463
contig referenceAPro [P]3463
381264151519 rs1302953121 N.D. synonymousAArg [R]3461
contig referenceGArg [R]3461
381264161518 rs541466301 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2461
contig referenceGArg [R]2461
381264171517 rs76718524 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGly [G]1461
missenseTTrp [W]1461
synonymousAArg [R]1461
contig referenceCArg [R]1461
381264181516 rs1259294868 N.D. synonymousTAla [A]3460
contig referenceCAla [A]3460
381264201514 rs752260146 0.000byFreq missenseAThr [T]1460
missenseCPro [P]1460
missenseTSer [S]1460
contig referenceGAla [A]1460
381264221512 rs763827059 0.000 missenseAGln [Q]2459
contig referenceGArg [R]2459
381264231511 rs753484966 0.000byFreq missenseTTrp [W]1459
contig referenceCArg [R]1459
381264241510 rs1236249066 N.D. synonymousTSer [S]3458
contig referenceASer [S]3458
381264261508 rs147043645 0.000byClusterbyFreq missenseCPro [P]1458
contig referenceTSer [S]1458
381264271507 rs138139283 0.000byClusterbyFreq missenseGMet [M]3457
synonymousTIle [I]3457
contig referenceCIle [I]3457
381264311503 rs1265504715 N.D. missenseCPro [P]2456
contig referenceAHis [H]2456
381264321502 rs1432692865 N.D. missenseTTyr [Y]1456
contig referenceCHis [H]1456
381264341500 rs1345384127 N.D. missenseCThr [T]2455
contig referenceTMet [M]2455
381264351499 rs745774208 0.000 missenseGVal [V]1455
contig referenceAMet [M]1455
381264381496 rs758332232 0.000 missenseGVal [V]1454
contig referenceCLeu [L]1454
381264401494 rs1012889381 N.D. missenseTVal [V]2453
contig referenceAAsp [D]2453
381264411493 rs533352113 0.000With1000GenomeData0.0002 missenseAAsn [N]1453
missenseTTyr [Y]1453
contig referenceGAsp [D]1453
381264441490 rs387906864 N.D.byCluster PathogenicnonsenseT1452
missenseGGlu [E]1452
contig referenceCGln [Q]1452
381264451489 rs747074503 0.000 synonymousGLeu [L]3451
contig referenceALeu [L]3451
381264471487 rs587784329 N.D.byCluster Pathogenicframe shift-Tyr [Y]1451
contig referenceCLeu [L]1451
381282761477 rs1369837875 N.D. synonymousTAsn [N]3447
contig referenceCAsn [N]3447
381282861467 rs757637622 0.000 frame shift-Thr [T]2444
contig referenceTIle [I]2444
381282871466 rs1478738777 N.D. missenseGVal [V]1444
contig referenceAIle [I]1444
381282881465 rs772809443 0.000byFreq synonymousAPro [P]3443
contig referenceGPro [P]3443
381282891464 rs375740918 0.000byClusterbyFreq missenseTLeu [L]2443
contig referenceCPro [P]2443
381282911461 rs1440909004 N.D. frame shiftCThr [T]2443
contig reference-Pro [P]2443
381282931460 rs1466548302 N.D. missenseTSer [S]1442
contig referenceCPro [P]1442
381282941459 rs1433278787 N.D. synonymousAPro [P]3441
contig referenceCPro [P]3441
381282961457 rs751359348 0.000 missenseGAla [A]1441
contig referenceCPro [P]1441
381282991454 rs1398609284 N.D. missenseGGlu [E]1440
contig referenceCGln [Q]1440
381283011452 rs759442680 0.000 missenseGGly [G]2439
contig referenceCAla [A]2439
381283181435 rs1324482461 N.D. synonymousTPro [P]3433
contig referenceCPro [P]3433
381283191434 rs767344666 0.000 missenseTLeu [L]2433
contig referenceCPro [P]2433
381283201433 rs752731019 0.000 missenseAThr [T]1433
contig referenceCPro [P]1433
381283231430 rs1282655744 N.D. frame shift-Ile [I]1432
contig referenceCHis [H]1432
381283251428 rs905624808 N.D. missenseGArg [R]2431
contig referenceAHis [H]2431
381283261427 rs1353523649 N.D. missenseTTyr [Y]1431
contig referenceCHis [H]1431
381283281425 rs1167902766 N.D. missenseAGln [Q]2430
contig referenceCPro [P]2430
381283291424 rs1434335192 N.D. missenseAThr [T]1430
contig referenceCPro [P]1430
381283301423 rs183891529 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAAla [A]3429
synonymousCAla [A]3429
contig referenceGAla [A]3429
381283311422 rs188895903 0.000byClusterWith1000GenomeData0.0002 missenseTVal [V]2429
contig referenceCAla [A]2429
381283331420 rs754067108 0.000 synonymousCAla [A]3428
contig referenceAAla [A]3428
381283371416 rs1337264018 N.D. missenseTPhe [F]2427
contig referenceCSer [S]2427
381283401413 rs757570398 0.000byFreq missenseTVal [V]2426
contig referenceGGly [G]2426
381283471406 rs1056739245 N.D. missenseALys [K]1424
contig referenceGGlu [E]1424
381283491404 rs199636953 0.000byClusterbyFreq YesmissenseAGlu [E]2423
missenseTVal [V]2423
contig referenceCAla [A]2423
381283501403 rs746217497 0.000byFreq Uncertain significancemissenseAThr [T]1423
contig referenceGAla [A]1423
381283511402 rs202123423 0.000byClusterbyFreq YessynonymousTPro [P]3422
contig referenceCPro [P]3422
381283511402 rs1015587489 N.D. frame shift-Arg [R]3423
contig referenceCAla [A]3423
381283521401 rs780391923 0.000 missenseTLeu [L]2422
contig referenceCPro [P]2422
381283531400 rs1314021438 N.D. missenseTSer [S]1422
contig referenceCPro [P]1422
381283541399 rs375896475 0.000 YessynonymousTVal [V]3421
contig referenceCVal [V]3421
381283551398 rs1282370486 N.D. frame shift-Ala [A]2421
contig referenceTVal [V]2421
381283561397 rs747575369 0.000 missenseAIle [I]1421
contig referenceGVal [V]1421
381283561397 rs781679211 0.000 frame shift-Ser [S]1421
contig referenceGVal [V]1421
381283571396 rs1448993577 N.D. synonymousCGly [G]3420
contig referenceGGly [G]3420
381283591394 rs769148122 0.000byClusterbyFreq missenseAArg [R]1420
missenseCArg [R]1420
contig referenceGGly [G]1420
381283601393 rs762534892 0.000 synonymousTHis [H]3419
contig referenceCHis [H]3419
381283621391 rs370873601 0.000byCluster YesmissenseGAsp [D]1419
missenseTTyr [Y]1419
contig referenceCHis [H]1419
381283681385 rs866305147 N.D.byCluster missenseTSer [S]1417
contig referenceCPro [P]1417
381283691384 rs964087325 N.D. synonymousTPro [P]3416
contig referenceAPro [P]3416
381283701383 rs774057049 0.000 missenseTLeu [L]2416
contig referenceCPro [P]2416
381283701382 rs1416244766 N.D. frame shift-Thr [T]1416
contig referenceCCPro [P]1416
381283741379 rs759220142 0.000byFreq missenseCLeu [L]1415
contig referenceTPhe [F]1415
381283821371 rs979868171 N.D. missenseGGly [G]2412
contig referenceAGlu [E]2412
381283831370 rs575880571 0.000byClusterbyFreq missenseALys [K]1412
contig referenceGGlu [E]1412
381283841369 rs775239333 0.000 synonymousTAla [A]3411
contig referenceCAla [A]3411
381283861367 rs1299990014 N.D. frame shift-Pro [P]1411
contig referenceGAla [A]1411
381283871366 rs1467318098 N.D. synonymousAGly [G]3410
contig referenceGGly [G]3410
381283921361 rs375131619 0.000byCluster missenseAMet [M]1409
contig referenceGVal [V]1409
381283921361 rs1324577013 N.D. frame shift-Trp [W]1409
contig referenceGVal [V]1409
381283931360 rs1284512372 N.D. synonymousTThr [T]3408
contig referenceCThr [T]3408
381283941359 rs1358188064 N.D. missenseAAsn [N]2408
contig referenceCThr [T]2408
381283961357 rs1243367370 N.D. missenseTSer [S]3407
contig referenceAArg [R]3407
381284031349 rs1290554462 N.D. frame shift-Ala [A]1405
contig referenceCTLeu [L]1405
381284121341 rs764199136 0.000byFreq Uncertain significancemissenseAAsn [N]2402
missenseCThr [T]2402
contig referenceTIle [I]2402
381284141339 rs757483818 0.000byFreq synonymousAAla [A]3401
synonymousTAla [A]3401
contig referenceGAla [A]3401
381284151338 rs935931186 N.D. missenseTVal [V]2401
contig referenceCAla [A]2401
381284201333 rs1251361410 N.D. frame shift-Arg [R]3400
contig referenceGLys [K]3400
381284301323 rs1248236591 N.D. missenseCPro [P]2396
contig referenceTLeu [L]2396
381294541322 rs778423680 0.000 missenseGVal [V]1396
contig referenceCLeu [L]1396
381294591317 rs1304371042 N.D. missenseAAsp [D]2394
contig referenceGGly [G]2394
381294601316 rs745443102 0.000byFreq missenseASer [S]1394
contig referenceGGly [G]1394
381294611315 rs575898460 0.000byClusterbyFreq synonymousTIle [I]3393
contig referenceCIle [I]3393
381294721304 rs775059242 0.000 missenseAThr [T]1390
contig referenceGAla [A]1390
381294731303 rs746792356 0.000 synonymousGLeu [L]3389
contig referenceALeu [L]3389
381294801296 rs1203448456 N.D. missenseGArg [R]2387
missenseTIle [I]2387
contig referenceCThr [T]2387
381294821294 rs972262861 N.D. synonymousCPro [P]3386
contig referenceTPro [P]3386
381294901286 rs371593013 0.000byCluster YesmissenseALys [K]1384
contig referenceGGlu [E]1384
381294941282 rs1477274686 N.D. synonymousCPhe [F]3382
contig referenceTPhe [F]3382
381295031273 rs776664421 0.000 synonymousAPro [P]3379
contig referenceGPro [P]3379
381295041272 rs570834054 0.000byFreqWith1000GenomeData0.0002 missenseTLeu [L]2379
contig referenceCPro [P]2379
381295071269 rs769930709 0.000 missenseAAsn [N]2378
missenseTIle [I]2378
contig referenceCThr [T]2378
381295091267 rs1277903602 N.D. synonymousTAsp [D]3377
contig referenceCAsp [D]3377
381295101266 rs773356186 0.000 missenseGGly [G]2377
contig referenceAAsp [D]2377
381295111265 rs1201007753 N.D. missenseCHis [H]1377
contig referenceGAsp [D]1377
381295141262 rs763001695 0.000 missenseAMet [M]1376
contig referenceGVal [V]1376
381295201256 rs766618805 0.000 missenseAThr [T]1374
contig referenceGAla [A]1374
381295211255 rs1175607172 N.D. synonymousCGly [G]3373
contig referenceAGly [G]3373
381295231253 rs587784327 N.D.byCluster PathogenicmissenseAArg [R]1373
contig referenceGGly [G]1373
381295241252 rs538112875 0.000byFreqWith1000GenomeData0.0002 synonymousTPhe [F]3372
contig referenceCPhe [F]3372
381295281248 rs1463308836 N.D. missenseCAla [A]2371
contig referenceTVal [V]2371
381295291247 rs765156550 0.000 missenseAMet [M]1371
contig referenceGVal [V]1371
381295301246 rs767889564 0.000byFreq synonymousTIle [I]3370
contig referenceCIle [I]3370
381295321244 rs556727891 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]1370
contig referenceAIle [I]1370
381295371239 rs376497527 0.000byCluster YesmissenseGGly [G]2368
contig referenceCAla [A]2368
381295411235 rs756615798 0.000 missenseGGlu [E]1367
contig referenceALys [K]1367
381295431233 rs778225931 0.000 missenseAAsn [N]2366
contig referenceTIle [I]2366
381295451231 rs149554238 0.000byClusterbyFreq YesmissenseTIle [I]3365
contig referenceGMet [M]3365
381295461230 rs1279355905 N.D. missenseCThr [T]2365
contig referenceTMet [M]2365
381295521224 rs1452697249 N.D. missenseGGly [G]2363
contig referenceTVal [V]2363
381295531223 rs144168978 0.000byClusterbyFreq YesmissenseAMet [M]1363
contig referenceGVal [V]1363
381295541222 rs2413502 0.035byClusterbyFreqWith1000GenomeData0.0635 YesLikely benignsynonymousTAsn [N]3362
contig referenceCAsn [N]3362
381328311213 rs368497893 N.D.byCluster YesPathogenicsynonymousASer [S]3359
contig referenceGSer [S]3359
381328321212 rs752447880 0.000 missenseTLeu [L]2359
contig referenceCSer [S]2359
381328371207 rs1417795090 N.D. synonymousTAla [A]3357
contig referenceCAla [A]3357
381328431201 rs755888951 0.000 synonymousTHis [H]3355
contig referenceCHis [H]3355
381328451199 rs777460339 0.000 missenseTTyr [Y]1355
contig referenceCHis [H]1355
381328461198 rs1367576239 N.D. synonymousCLeu [L]3354
contig referenceGLeu [L]3354
381328471197 rs1403125636 N.D. missenseCPro [P]2354
contig referenceTLeu [L]2354
381328481196 rs1301246316 N.D. missenseGVal [V]1354
synonymousTLeu [L]1354
contig referenceCLeu [L]1354
381328491195 rs574201303 0.001byFreqWith1000GenomeData0.0002 synonymousAPro [P]3353
contig referenceGPro [P]3353
381328501194 rs587784326 N.D.byCluster Likely pathogenicmissenseTLeu [L]2353
contig referenceCPro [P]2353
381328531191 rs757152384 0.000 missenseTIle [I]2352
contig referenceCThr [T]2352
381328581186 rs778877518 0.000 synonymousTGly [G]3350
contig referenceCGly [G]3350
381328601184 rs1213674178 N.D. missenseASer [S]1350
contig referenceGGly [G]1350
381328611183 rs1037506850 N.D. missenseAGln [Q]3349
contig referenceCHis [H]3349
381328621182 rs1361004216 N.D. missenseGArg [R]2349
contig referenceAHis [H]2349
381328631181 rs1219573900 N.D. missenseTTyr [Y]1349
contig referenceCHis [H]1349
381328641180 rs1268806702 N.D. synonymousAGlu [E]3348
contig referenceGGlu [E]3348
381328661178 rs1448134974 N.D. missenseALys [K]1348
contig referenceGGlu [E]1348
381328701174 rs745939189 0.000 synonymousTArg [R]3346
contig referenceCArg [R]3346
381328711173 rs772176591 0.000 missenseAHis [H]2346
contig referenceGArg [R]2346
381328721172 rs775645331 0.000byFreq missenseTCys [C]1346
contig referenceCArg [R]1346
381328731171 rs1397600194 N.D. synonymousTAla [A]3345
contig referenceCAla [A]3345
381328741170 rs1164473121 N.D. missenseTVal [V]2345
contig referenceCAla [A]2345
381328751169 rs1387267568 N.D. missenseAThr [T]1345
contig referenceGAla [A]1345
381328791165 rs1422824235 N.D. synonymousAAla [A]3343
synonymousTAla [A]3343
contig referenceGAla [A]3343
381328801164 rs1162944680 N.D. missenseAGlu [E]2343
missenseTVal [V]2343
contig referenceCAla [A]2343
381328811163 rs11570680 0.036byCluster