P10745
PR
Gene name |
RBP3 |
Protein name |
Retinol-binding protein 3 |
Names |
Interphotoreceptor retinoid-binding protein, IRBP, Interstitial retinol-binding protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5949 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P10745
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P10745-F1 | Predicted | AlphaFoldDB |
1412 variants for P10745
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000206962 CA350961 rs864621997 VAR_069669 |
18 | G>V | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001810002 CA5487851 RCV001239290 rs782574616 |
54 | Q>* | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782215106 RCV001038993 RCV000210317 CA351439 |
83 | N>K | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA351023 VAR_069670 rs41302693 RCV000207013 |
122 | R>H | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs147118201 RCV002551453 RCV001039667 CA5487795 |
139 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA350937 VAR_069671 rs782157576 RCV000206939 |
155 | V>M | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555210929 RCV001199531 |
156 | W>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000522277 RCV002528263 CA5487781 rs199588885 |
158 | N>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA350957 VAR_069672 RCV000206958 rs35686775 RCV000968659 RCV001106853 |
163 | S>P | Retinitis pigmentosa 66 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs782398712 RCV000207007 VAR_069673 CA351015 |
196 | V>M | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 66 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001106851 rs1555210967 CA376665688 |
197 | D>G | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001241775 CA5487740 rs148673483 RCV002568544 |
209 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs782477232 CA5487705 RCV001202141 RCV001535739 |
250 | R>H | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000353912 CA5487692 rs77257977 RCV001230263 |
263 | A>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000206934 RCV001243043 VAR_069674 rs200239015 CA350930 |
267 | R>Q | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000505002 RCV001202729 rs782604129 |
278 | F>missing | Congenital stationary night blindness [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_069675 RCV000206985 RCV001060350 CA350990 rs782095820 |
282 | V>M | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 66 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1020582345 RCV001856422 CA206461064 RCV001105736 |
312 | A>T | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_069676 rs376854254 RCV000206892 CA350880 RCV001105735 RCV001201499 |
321 | T>I | Retinitis pigmentosa 66 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001105734 RCV001856421 CA5487647 rs373982809 |
323 | R>C | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1836914786 RCV001105733 |
324 | S>I | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000206931 CA238758 rs368898051 RCV000173292 VAR_069677 |
325 | A>T | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 66 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs782570418 CA5487633 RCV001207901 RCV000367941 |
336 | V>A | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001103798 RCV001723760 RCV000947248 rs111245635 CA350983 VAR_069678 RCV000206981 |
346 | R>H | Retinitis pigmentosa 66 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs527458754 CA5487600 RCV000350740 RCV002520591 |
375 | G>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001852525 CA350896 VAR_069679 RCV000206905 RCV000288845 rs781840247 |
379 | A>T | Retinitis pigmentosa Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000404738 RCV000519611 RCV002522158 CA5487597 rs139299230 |
381 | E>Q | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs782731785 CA10635769 RCV000347360 RCV001327203 |
382 | D>E | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001376320 CA5487594 rs782245537 RCV001257783 |
388 | R>* | Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001350649 rs143857049 RCV000378014 CA5487576 |
403 | A>T | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000210290 rs782469310 CA351431 RCV001038992 |
413 | P>S | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs199801954 RCV001107416 CA5487564 |
422 | R>W | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs139515510 CA5487562 RCV002553121 RCV001045402 |
424 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001107415 rs1555211188 |
432 | V>L | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000206945 rs375761633 VAR_069680 RCV001321092 CA350943 |
433 | S>L | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 66 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_069681 rs864621999 CA351000 RCV000206995 |
443 | R>S | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000779028 rs781889777 |
451 | S>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5487536 RCV000286960 RCV001240016 rs551138498 |
462 | R>C | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs782566834 RCV002563908 CA5487531 RCV001238175 |
467 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000379039 rs782195686 RCV001040424 CA5487532 |
467 | P>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1836931186 RCV001078178 |
470 | D>missing | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000173289 CA238754 VAR_069682 RCV001107413 rs201808774 RCV000206920 |
505 | H>L | Retinitis pigmentosa Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313119 rs1555211247 RCV001535721 RCV002543618 CA376670186 |
511 | D>V | Retinitis pigmentosa 66 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_069683 RCV000206967 CA350968 rs563600593 RCV001053424 |
518 | Q>R | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
rs148093336 CA350996 RCV001439041 VAR_069684 RCV000206990 |
523 | H>Q | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001856430 rs202162675 RCV001106783 CA5487486 |
530 | R>C | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_069685 rs143632019 CA350909 RCV001341968 RCV000206916 |
535 | R>C | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000966384 rs41284962 RCV000080036 VAR_069686 RCV000206963 RCV001106782 CA147601 |
544 | R>H | Retinitis pigmentosa Retinitis pigmentosa 66 Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886047021 CA10635770 RCV000259849 |
581 | L>Q | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002520589 CA5487446 RCV000355676 RCV001859783 rs781830183 |
585 | P>H | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs782791110 RCV002563212 CA5487442 RCV003132313 RCV001231898 |
586 | E>K | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 66 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA351026 VAR_069687 rs782233167 RCV000207015 |
593 | V>A | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000206927 RCV000371593 rs144289912 CA350922 VAR_069688 RCV001105649 |
599 | I>V | Retinitis pigmentosa 66 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10635780 rs886047020 RCV000313513 |
605 | A>P | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001105648 CA234770 RCV000153815 RCV000206960 rs149642039 VAR_069689 |
614 | D>N | Retinitis pigmentosa 66 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000207011 VAR_069690 CA351020 rs368920246 |
615 | A>V | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
rs886047019 RCV000390320 CA10635367 |
640 | V>A | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000900247 rs138305522 CA5487396 RCV000362609 |
645 | H>Y | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886047018 RCV000310196 CA10628590 |
671 | G>D | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622000 RCV000206937 CA350934 VAR_069691 |
675 | T>I | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_069692 RCV001172034 RCV001103700 CA350973 rs200168559 RCV000206971 |
688 | A>V | Retinitis pigmentosa Retinitis pigmentosa 66 Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001103699 rs112888313 RCV000973192 VAR_069693 CA350894 RCV000206904 |
693 | V>M | Retinitis pigmentosa 66 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs909554547 RCV002547410 RCV001341739 CA206464346 |
703 | H>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5487351 RCV002520588 RCV000282751 rs782171257 RCV001321364 |
709 | V>L | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001074925 CA5487344 RCV001057281 rs375567540 |
719 | A>V | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002543045 CA376672212 rs371012117 RCV001296193 |
720 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000173291 VAR_069694 RCV001103698 RCV000966383 RCV000206940 rs148247227 CA200435 |
723 | P>L | Retinitis pigmentosa 66 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000394626 VAR_069695 CA350979 RCV001852526 rs143110000 RCV000206977 |
741 | G>S | Retinitis pigmentosa 66 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA350888 RCV000206898 VAR_069696 rs782664364 |
747 | R>C | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA5487328 RCV002543110 RCV001304765 RCV003135941 rs199953057 |
747 | R>H | Retinitis pigmentosa 66 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001361430 RCV000279369 CA5487321 rs17853945 |
757 | V>G | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002561835 RCV001214010 rs782484543 CA5487311 |
774 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001108852 rs782431515 |
776 | A>D | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000206953 CA350953 rs864622001 VAR_069697 |
785 | N>K | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002520587 rs782632795 CA5487289 RCV001850585 RCV000371632 |
803 | A>T | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs35238500 RCV000968658 CA5487287 RCV000319334 |
806 | R>C | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA351007 RCV000207000 rs142945423 VAR_069698 RCV001226061 |
833 | R>C | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001322215 CA5487269 rs200783520 RCV002546091 |
833 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106687 rs142945423 CA5487270 |
833 | R>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_069699 RCV001106686 rs782480179 RCV001046800 CA350882 RCV000206893 |
835 | G>S | Retinitis pigmentosa Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA206465126 rs781881541 RCV001073631 RCV001241759 |
841 | Y>* | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001074743 rs1836963759 |
857 | H>P | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000330377 rs371184896 RCV001373324 CA5487242 |
864 | R>Q | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002546229 RCV001327675 rs1474298507 CA376673982 |
874 | G>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5487229 RCV002522157 RCV000326768 RCV001511061 rs138240045 |
876 | A>S | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106685 CA200431 RCV000891521 RCV000173286 RCV002500453 VAR_051315 rs11204213 |
884 | V>M | Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA350950 VAR_069700 RCV000206948 rs373766942 |
903 | T>R | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA5487208 CA351003 rs548622709 VAR_069701 RCV000206998 RCV001307856 |
921 | S>R | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 66 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs370922435 CA5487203 RCV001197952 |
930 | I>T | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA350914 RCV001366870 RCV000206922 rs781847641 VAR_069702 |
956 | E>K | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 66 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA350940 RCV000206943 VAR_069703 rs200706310 |
963 | T>I | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000366232 CA5487181 RCV001067450 rs201500631 |
967 | G>S | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002554557 rs141409712 RCV001069007 CA5487180 |
967 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5487176 RCV003165812 RCV001297642 rs782423972 RCV000309650 |
974 | R>K | Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000266187 CA10635377 rs886047016 |
983 | E>D | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063058 CA5487159 RCV002554452 rs145728430 |
997 | H>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001199530 rs1836974640 |
1017 | M>K | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000206994 RCV000175739 rs148591757 VAR_069704 CA241484 |
1021 | S>Y | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs140160521 RCV001068846 CA5487122 RCV002555873 |
1053 | G>S | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA350912 RCV000206919 VAR_069705 rs864622002 RCV001351898 |
1059 | V>I | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000043517 RCV001852909 VAR_069706 rs146150511 CA344701 |
1080 | D>N | Retinitis pigmentosa 66 RP66; abolishes secretion; results in mis-folded insoluble complexes degraded via the ER-associated protein catabolic process [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV002267760 CA376677018 rs1588865728 |
1127 | Q>* | Cone-rod dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001103603 rs1588865742 |
1128 | V>I | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000394922 CA10631723 rs886047015 |
1134 | G>D | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5487041 rs202047317 RCV001074742 |
1151 | A>V | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000206965 RCV001349416 CA350964 VAR_069707 rs782099994 |
1194 | T>M | Retinitis pigmentosa 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs146153708 RCV001103601 CA5487005 RCV000224957 |
1205 | S>T | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147796755 CA5486997 RCV000336564 RCV001514049 |
1212 | T>I | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001228185 RCV001073632 rs782519239 CA5486995 |
1213 | P>S | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001103600 rs143507852 RCV001038996 CA5486990 |
1223 | L>F | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000297928 rs3740296 CA5486984 RCV001479563 |
1236 | R>K | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001307028 CA206459371 rs927364838 |
2 | M>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1555210845 CA376663728 |
3 | R>K | No |
ClinGen gnomAD |
|
|
CA376663735 rs1440267686 |
4 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781980837 CA376663748 CA5487886 |
5 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA376663742 rs1588860713 |
5 | W>R | No |
ClinGen Ensembl |
|
|
CA5487885 rs782766111 |
6 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5487883 rs782034018 |
9 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs868953266 CA376663773 |
10 | S>F | No |
ClinGen TOPMed |
|
|
rs782311051 CA5487882 |
10 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA376663778 rs868966161 |
11 | V>A | No |
ClinGen Ensembl |
|
|
CA376663774 rs1406852831 |
11 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1406852831 CA376663775 |
11 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA376663794 rs1164675770 |
14 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA206459442 rs908077602 |
17 | A>G | No |
ClinGen Ensembl |
|
|
rs1588860764 CA376663843 |
20 | T>P | No |
ClinGen Ensembl |
|
|
CA376663858 rs1588860767 |
21 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 21 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 25 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487875 rs142651412 |
25 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA206459450 rs890194848 |
27 | L>R | No |
ClinGen Ensembl |
|
|
rs782460428 CA5487873 |
28 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782460428 CA206459471 |
28 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782523591 CA5487871 RCV001239489 CA5487870 |
31 | M>I | No |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
|
rs1555210856 CA376663959 |
31 | M>L | No |
ClinGen gnomAD |
|
|
rs1555210857 CA376663967 |
31 | M>T | No |
ClinGen gnomAD |
|
|
CA5487868 rs202011777 |
33 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5487867 rs202011777 |
33 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5487866 rs781809419 |
33 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555210859 RCV001298039 CA376664007 |
34 | V>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs781991296 CA5487863 |
35 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781991296 CA5487864 |
35 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA376664081 rs1565763618 |
40 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5487860 rs782036270 |
42 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA206459516 rs1052265069 |
42 | P>S | No |
ClinGen gnomAD |
|
|
rs1284181576 CA376664125 |
43 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 43 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782258055 CA5487855 |
47 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs782368116 CA5487856 |
47 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206459561 rs1011211682 |
49 | Q>K | No |
ClinGen TOPMed |
|
|
CA5487853 rs141206428 |
51 | A>D | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 52 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376664279 rs879969989 |
55 | A>T | No |
ClinGen Ensembl |
|
|
CA376664286 rs1555210862 |
56 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376664288 rs1555210862 |
56 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782472393 CA5487850 |
58 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001047353 rs1836892712 |
59 | H>R | No |
ClinVar dbSNP |
|
| TCGA novel | 60 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782762779 CA5487848 |
60 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781839151 CA5487849 |
60 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA206459640 rs782762779 |
60 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369433836 CA376664378 RCV001244023 |
63 | S>N | No |
ClinGen ClinVar ESP dbSNP gnomAD |
|
|
rs782523040 RCV001298063 CA5487847 |
63 | S>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376664389 rs1457054321 |
64 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1457054321 CA376664391 |
64 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1555210864 CA376664404 |
65 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430500607 CA376664417 |
66 | D>A | No |
ClinGen TOPMed |
|
|
rs1430500607 CA376664415 |
66 | D>G | No |
ClinGen TOPMed |
|
|
RCV001325127 CA5487845 rs201439265 |
67 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201439265 CA5487846 |
67 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376664426 rs868918514 |
67 | P>S | No |
ClinGen Ensembl |
|
|
rs1555210869 CA376664443 |
68 | Q>P | No |
ClinGen Ensembl |
|
|
rs782729460 CA5487842 |
69 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555210872 CA376664458 |
70 | L>M | No |
ClinGen gnomAD |
|
|
CA376664466 rs1555210873 |
70 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376664496 rs1555210876 |
73 | V>M | No |
ClinGen gnomAD |
|
|
rs781993926 CA5487840 |
74 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs531300982 CA5487839 |
76 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5487837 rs781916311 CA376664534 |
77 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376664552 rs1555210881 |
78 | V>A | No |
ClinGen gnomAD |
|
|
rs1555210881 CA376664550 |
78 | V>G | No |
ClinGen gnomAD |
|
|
CA5487835 rs782207485 CA206459747 |
78 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487836 rs782207485 |
78 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487834 rs782641657 |
79 | Q>H | No |
ClinGen ExAC |
|
|
rs1555210883 CA376664575 |
80 | S>N | No |
ClinGen gnomAD |
|
|
rs868978477 CA376664586 |
81 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 84 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588860914 CA376664632 |
85 | P>L | No |
ClinGen Ensembl |
|
|
rs1555210886 CA376664628 |
85 | P>S | No |
ClinGen gnomAD |
|
|
CA5487832 rs782583157 |
86 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148230448 CA5487831 |
86 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 87 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11598079 CA206459805 |
88 | V>G | No |
ClinGen Ensembl |
|
|
CA376664670 rs782765523 |
89 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 90 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296026333 CA376664702 |
91 | Y>* | No |
ClinGen TOPMed |
|
|
rs782780568 CA5487829 |
92 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA376664708 rs1435092552 |
92 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs190532119 CA5487828 |
93 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 93 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407255246 CA376664733 |
94 | S>N | No |
ClinGen TOPMed |
|
|
CA376664740 rs1339157521 |
94 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs143158626 CA5487826 |
95 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143158626 CA5487827 |
95 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555210898 CA376664744 |
95 | T>P | No |
ClinGen Ensembl |
|
|
rs782634926 RCV001234247 |
97 | E>missing | No |
ClinVar dbSNP |
|
|
RCV001343307 rs782814427 CA5487823 |
97 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP |
|
RCV001321362 rs782153944 CA5487821 |
98 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376664788 rs1170455333 |
99 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560668153 CA206459891 |
100 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 100 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143076262 CA5487819 RCV000733678 |
100 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5487818 rs143076262 RCV001307267 |
100 | P>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143076262 CA5487820 |
100 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs560668153 CA376664793 |
100 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs782327191 CA5487815 |
101 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555210900 CA376664798 |
101 | Q>P | No |
ClinGen gnomAD |
|
|
CA5487814 rs782181034 |
102 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA376664809 rs1555210901 |
103 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244725347 CA376664812 |
104 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376664818 rs1555210903 |
105 | L>I | No |
ClinGen gnomAD |
|
|
rs782678271 CA5487813 |
106 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555210904 CA376664833 |
108 | L>I | No |
ClinGen gnomAD |
|
|
rs782251156 CA5487811 |
109 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA376664856 rs1255640705 |
111 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1836895677 RCV001303135 |
111 | E>G | No |
ClinVar dbSNP |
|
|
CA5487810 rs782635160 RCV001059360 |
112 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1309326814 CA376664868 |
113 | L>R | No |
ClinGen TOPMed |
|
|
rs782471071 CA5487809 |
114 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487805 rs138261581 |
119 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782782188 CA5487804 |
120 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1384216731 CA376664916 |
121 | L>R | No |
ClinGen TOPMed |
|
|
CA5487803 rs150932600 |
122 | R>C | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs782742902 CA5487802 |
124 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA376664970 rs1394661651 |
130 | V>G | No |
ClinGen TOPMed |
|
|
rs782060588 CA5487801 |
130 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs538289853 CA376664990 |
134 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538289853 CA5487799 |
134 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206460032 rs781917479 |
134 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs184452710 CA206460058 CA206460059 |
137 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376665015 rs1555210922 |
138 | V>A | No |
ClinGen gnomAD |
|
|
rs1555210920 RCV001320510 |
138 | V>missing | No |
ClinVar dbSNP |
|
|
rs202076554 CA5487796 RCV001295986 |
138 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs147118201 CA376665021 |
139 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34932849 RCV000597297 CA5487793 |
140 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376665031 rs1177964061 |
141 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 142 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206460076 rs200630565 |
145 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5487792 rs200630565 |
145 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376665053 rs1555210926 |
145 | S>T | No |
ClinGen gnomAD |
|
|
TCGA novel CA206460129 rs371280218 |
146 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP TOPMed |
|
rs782522508 CA5487790 |
146 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs781860309 CA5487789 |
147 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001207673 rs782463303 |
149 | E>* | No |
ClinVar dbSNP |
|
|
CA5487787 rs782463303 |
149 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1249646942 CA376665080 |
150 | F>L | No |
ClinGen TOPMed |
|
|
rs201653073 CA376665099 |
153 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA376665106 rs1360716758 |
154 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5487784 rs782157576 |
155 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555210929 CA376665117 |
156 | W>L | No |
ClinGen gnomAD |
|
|
rs782772727 CA5487782 |
157 | G>E | No |
ClinGen ExAC gnomAD |
|
|
RCV001347384 rs572940266 CA5487783 |
157 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 159 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555210930 CA376665138 |
160 | M>K | No |
ClinGen gnomAD |
|
|
CA5487780 rs781965756 |
160 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA376665136 rs1555210930 |
160 | M>T | No |
ClinGen gnomAD |
|
|
rs782332883 CA5487779 |
161 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs146287986 CA5487776 |
164 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146287986 CA5487774 RCV000918127 |
164 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146287986 CA5487775 |
164 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376665226 rs1565764064 |
166 | V>G | No |
ClinGen Ensembl |
|
|
CA206460217 rs895832185 |
167 | L>P | No |
ClinGen Ensembl |
|
|
CA376665249 rs1555210933 |
168 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 168 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487772 rs782586204 RCV001231924 |
169 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782671340 CA5487769 |
170 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487770 rs782671340 |
170 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782449660 CA5487771 |
170 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371068323 CA5487768 |
171 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001321382 rs962460193 CA206460238 |
172 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749790962 CA206460241 |
173 | T>I | No |
ClinGen gnomAD |
|
|
CA376665339 rs1555210937 |
175 | G>C | No |
ClinGen gnomAD |
|
|
CA5487766 rs570385109 |
177 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 179 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376665587 rs1249899161 |
181 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA376665586 rs1249899161 |
181 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1555210946 CA376665596 |
182 | Y>C | No |
ClinGen gnomAD |
|
|
rs1555210949 CA376665601 |
183 | I>F | No |
ClinGen gnomAD |
|
|
rs1555210951 CA376665624 |
186 | Y>C | No |
ClinGen gnomAD |
|
|
CA376665621 rs1555210950 |
186 | Y>H | No |
ClinGen gnomAD |
|
|
rs201597794 CA206460273 |
187 | L>V | No |
ClinGen Ensembl |
|
|
CA5487764 rs782312896 |
189 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376665645 rs1555210955 |
190 | G>E | No |
ClinGen gnomAD |
|
|
rs552350265 CA5487762 |
190 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5487756 rs151075954 |
195 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782398712 CA5487755 |
196 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs368101638 CA5487754 |
197 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1287309702 CA376665692 |
198 | T>A | No |
ClinGen TOPMed |
|
|
CA5487752 rs782491559 |
199 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5487750 rs782577548 |
200 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA206460391 rs782577548 |
200 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5487749 rs75277011 |
201 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs75277011 CA206460397 |
201 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA5487748 RCV001062718 rs781892604 |
202 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5487747 rs782797785 |
202 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555210975 CA376665716 |
203 | P>L | No |
ClinGen gnomAD |
|
|
CA5487745 rs781842157 |
203 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555210978 CA376665742 |
207 | T>I | No |
ClinGen TOPMed |
|
|
CA5487743 rs142859988 |
208 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487742 RCV001321248 rs781920171 |
208 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376665744 rs781920171 |
208 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411040403 CA376665751 |
209 | E>D | No |
ClinGen TOPMed |
|
|
RCV001040624 rs1480910058 CA376665766 |
211 | W>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
TCGA novel rs1555210985 CA376665775 |
211 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1158704693 CA376665764 |
211 | W>G | No |
ClinGen TOPMed |
|
|
rs1196877711 CA376665809 |
214 | P>A | No |
ClinGen TOPMed |
|
|
rs1196877711 CA376665812 |
214 | P>S | No |
ClinGen TOPMed |
|
|
CA376665830 rs1588861312 |
215 | Q>H | No |
ClinGen Ensembl |
|
|
CA5487736 rs782220407 |
217 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206460486 rs781947588 |
218 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5487735 rs781947588 |
218 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1207467658 CA376665873 |
219 | E>G | No |
ClinGen TOPMed |
|
|
rs1463820373 CA376665892 |
220 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782674053 CA5487732 |
221 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203880333 CA376665900 |
221 | Y>C | No |
ClinGen TOPMed |
|
|
rs1203880333 CA376665901 |
221 | Y>F | No |
ClinGen TOPMed |
|
|
CA376665895 rs1267933919 |
221 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5487730 rs782248903 |
222 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001238272 CA5487731 rs527361141 |
222 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5487729 rs782612273 |
223 | A>P | No |
ClinGen ExAC |
|
|
CA376665943 rs1432897923 |
224 | D>H | No |
ClinGen TOPMed |
|
|
rs1432897923 RCV001351041 |
224 | D>N | No |
ClinVar dbSNP |
|
|
rs1387598505 CA376665953 |
224 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 226 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487727 rs781808629 |
227 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001304345 rs1836904138 |
228 | V>M | No |
ClinVar dbSNP |
|
|
RCV001245000 CA206460559 rs926459011 |
229 | V>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5487726 rs782578091 |
231 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5487724 rs781888711 |
235 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA206460603 rs781888711 |
235 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5487723 rs782778044 |
236 | R>G | No |
ClinGen ExAC |
|
|
rs782112592 CA5487722 |
236 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 237 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376666133 rs139362090 |
237 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781957643 CA5487719 |
237 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487720 rs781957643 |
237 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487717 rs782400425 |
238 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372543209 CA5487716 |
239 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 239 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487714 rs368502569 |
240 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 241 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487713 rs782211857 |
241 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1462322400 CA376666213 |
242 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA206460677 rs782595430 |
242 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1462322400 CA376666214 |
242 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs149256669 CA376666231 |
243 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149256669 RCV000489244 CA5487711 |
243 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs370124984 CA5487710 |
243 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1555211019 CA376666242 |
244 | H>N | No |
ClinGen gnomAD |
|
|
CA376666272 rs1555211023 |
245 | I>M | No |
ClinGen gnomAD |
|
|
rs1555211021 CA376666265 |
245 | I>N | No |
ClinGen gnomAD |
|
|
CA376666263 rs1555211020 |
245 | I>V | No |
ClinGen gnomAD |
|
|
rs868957017 CA376666276 |
246 | L>F | No |
ClinGen Ensembl |
|
|
rs781856173 CA206460700 CA5487707 |
249 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5487708 rs782516260 |
249 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs782613785 CA5487706 |
250 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782613785 CA206460707 |
250 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782613785 CA206460703 |
250 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995370425 CA206460743 |
251 | R>G | No |
ClinGen Ensembl |
|
|
rs782700564 CA5487703 |
252 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1315427948 CA376666370 |
252 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA376666380 rs782700564 |
252 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376666401 rs112093777 |
253 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV001212526 CA376666409 CA5487702 rs782150414 |
254 | V>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782150414 CA376666406 |
254 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782766646 CA5487700 |
257 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs782766646 RCV001322002 |
257 | E>Q | No |
ClinVar dbSNP |
|
|
CA5487697 RCV001213674 rs782333697 |
258 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5487698 rs563042955 |
258 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001230460 rs1836908110 |
260 | G>E | No |
ClinVar dbSNP |
|
|
rs199687745 CA5487695 RCV001239544 CA5487694 |
260 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5487693 rs782253394 |
261 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376666509 rs1555211030 |
261 | G>R | Variant assessed as Somatic; 4.653e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555211034 CA376666552 |
264 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 265 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782210102 CA5487690 |
265 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782577134 CA206460814 |
267 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782577134 CA5487689 |
267 | R>W | Variant assessed as Somatic; 4.663e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1253286238 RCV001069517 CA376666598 |
268 | K>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5487688 rs782280261 |
270 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1836909025 RCV001305589 |
272 | G>V | No |
ClinVar dbSNP |
|
|
CA5487684 rs782731903 |
273 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1588861496 CA376666706 |
273 | E>V | No |
ClinGen Ensembl |
|
|
RCV001305710 rs1555211043 |
275 | D>H | No |
ClinVar dbSNP |
|
|
rs1555211043 CA376666737 |
275 | D>N | No |
ClinGen gnomAD |
|
|
CA376666839 RCV001349834 rs1447506837 |
279 | T>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5487680 rs782814039 |
279 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs199766969 CA206460918 |
280 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 281 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376666898 rs1555211055 |
283 | S>T | No |
ClinGen gnomAD |
|
|
CA376666903 rs1412054375 |
283 | S>Y | No |
ClinGen TOPMed |
|
|
CA376666906 rs1555211056 |
284 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211061 CA376666948 |
286 | L>R | No |
ClinGen gnomAD |
|
|
RCV001237979 rs1555211062 CA376666954 |
287 | G>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5487676 CA206460943 rs143324951 |
287 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487677 rs143324951 |
287 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376666972 rs917821437 RCV000497931 |
288 | P>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs917821437 CA206460957 |
288 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782489785 CA376666970 |
288 | P>S | No |
ClinGen TOPMed |
|
|
RCV001225460 CA5487674 rs782029087 |
289 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376666982 RCV001243089 rs1449814820 |
289 | L>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs782248681 CA5487672 |
290 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224130931 CA376667025 |
291 | G>A | No |
ClinGen TOPMed |
|
|
rs1555211069 CA376667059 |
294 | Q>R | No |
ClinGen gnomAD |
|
|
RCV001344119 rs782631087 CA5487671 |
295 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1588861555 CA376667099 |
297 | E>G | No |
ClinGen Ensembl |
|
|
CA376667095 rs1565764600 |
297 | E>K | No |
ClinGen Ensembl |
|
|
rs1290433500 CA376667110 |
298 | G>R | No |
ClinGen TOPMed |
|
|
rs782573534 CA5487668 |
299 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782553847 CA5487667 |
300 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 300 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588861562 CA376667158 |
301 | V>G | No |
ClinGen Ensembl |
|
|
rs782770053 CA5487665 |
301 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781834498 CA5487663 |
303 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5487662 rs782063142 |
304 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs782063142 CA5487661 RCV001229917 |
304 | C>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376667183 rs1555211076 |
304 | C>S | No |
ClinGen gnomAD |
|
|
CA5487660 rs781913933 |
306 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1049191932 CA206461035 |
307 | T>A | No |
ClinGen TOPMed |
|
|
rs782141561 CA5487658 |
307 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5487657 rs782358403 |
308 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5487656 rs782358403 |
308 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565764633 CA376667234 |
309 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 309 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206461048 rs1010234580 |
310 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 310 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376667265 rs1156464848 |
311 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA376667264 rs1156464848 |
311 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1555211083 CA376667294 RCV001205357 |
313 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1555211084 CA376667314 |
315 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376667334 rs1555211085 |
316 | A>V | No |
ClinGen gnomAD |
|
|
CA5487650 rs782389160 |
318 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369566953 CA5487649 |
319 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs968129269 CA206461092 |
319 | I>V | No |
ClinGen Ensembl |
|
|
rs570384646 CA206461116 |
322 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA376667395 rs1328781552 |
322 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA206461118 rs570384646 |
322 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376667404 rs1221021637 |
323 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs552188961 CA5487644 |
324 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368898051 CA376667431 |
325 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781828345 CA5487642 |
326 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487641 rs782734444 |
328 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206461157 rs782136590 |
329 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782136590 CA5487637 |
329 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917788884 CA206461161 |
330 | V>L | No |
ClinGen TOPMed |
|
|
CA376667511 rs1555211104 |
332 | C>G | No |
ClinGen gnomAD |
|
|
CA376667514 rs1565764732 |
332 | C>Y | No |
ClinGen Ensembl |
|
|
rs782215234 CA376667568 |
336 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782215234 CA5487634 |
336 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487631 rs147501263 |
338 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 338 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782669247 RCV001068379 CA5487630 |
338 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs973069121 CA376667605 |
339 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206461200 rs973069121 |
339 | D>V | No |
ClinGen gnomAD |
|
|
CA376667601 rs1555211108 |
339 | D>Y | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1464560666 CA376667621 |
340 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs150434097 CA5487629 |
342 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376667657 rs1555211112 |
344 | V>M | No |
ClinGen gnomAD |
|
|
rs188824528 CA5487626 |
345 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555211113 CA376667675 |
345 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487625 rs781791441 |
346 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781791441 CA376667682 |
346 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781791441 CA376667680 |
346 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781873219 CA5487623 |
348 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA5487624 rs199720350 |
348 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5487621 rs782096981 |
349 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555211120 CA376668252 |
352 | Q>* | No |
ClinGen gnomAD |
|
|
CA5487617 rs782025482 |
355 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555211122 CA376668296 |
355 | A>T | No |
ClinGen gnomAD |
|
|
rs782396927 CA5487616 |
356 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487615 RCV001046612 rs532818776 |
356 | S>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1040524021 CA206461290 |
357 | M>T | No |
ClinGen Ensembl |
|
|
RCV001244449 rs781973079 |
359 | F>L | No |
ClinVar dbSNP |
|
|
RCV001348173 rs1380418518 CA376668359 |
359 | F>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1304217463 CA376668371 |
360 | S>C | No |
ClinGen TOPMed |
|
|
rs782348994 CA5487613 |
361 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001235558 rs868977086 |
362 | V>L | No |
ClinVar dbSNP |
|
|
CA376668393 rs868977086 |
362 | V>M | No |
ClinGen Ensembl |
|
|
CA376668409 rs1431510852 |
363 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA238756 RCV000173290 rs782662883 |
365 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 366 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782725888 CA5487606 RCV001313262 |
367 | D>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5487607 rs781836261 |
367 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs782455367 CA206461365 |
368 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206461383 rs1021641176 |
371 | K>E | No |
ClinGen TOPMed |
|
|
rs1021641176 CA376668498 |
371 | K>Q | No |
ClinGen TOPMed |
|
|
rs1555211141 CA376668516 |
372 | L>H | No |
ClinGen gnomAD |
|
|
CA376668511 rs1555211140 |
372 | L>I | No |
ClinGen gnomAD |
|
|
CA5487602 rs782140996 |
373 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs904131108 CA206461400 |
374 | A>D | No |
ClinGen gnomAD |
|
|
CA376668540 rs904131108 |
374 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527458754 CA206461411 |
375 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373466436 CA376668596 |
379 | A>V | No |
ClinGen gnomAD |
|
|
rs201355398 CA5487598 |
380 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376668614 rs139299230 |
381 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 382 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376668645 rs1555211148 |
383 | P>A | No |
ClinGen gnomAD |
|
|
CA206461431 rs540247058 |
384 | R>T | No |
ClinGen 1000Genomes |
|
|
rs782387708 CA5487595 |
385 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5487593 rs141006781 |
388 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555211151 CA376668716 |
390 | I>V | No |
ClinGen gnomAD |
|
|
CA5487590 rs142210499 CA5487591 |
391 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781880139 CA5487588 |
392 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA376668752 rs1555211153 |
393 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211154 CA376668784 |
395 | T>P | No |
ClinGen gnomAD |
|
|
CA376668791 rs1555211155 |
395 | T>S | No |
ClinGen gnomAD |
|
|
rs369177969 CA5487586 RCV001317698 |
396 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 396 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211157 CA376668809 |
397 | S>P | No |
ClinGen gnomAD |
|
|
rs1555211158 CA376668814 |
397 | S>Y | No |
ClinGen gnomAD |
|
|
CA376668834 rs1588862000 |
398 | W>C | No |
ClinGen Ensembl |
|
|
rs1588861997 CA376668824 |
398 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 399 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376668854 rs1484072706 |
400 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5487582 rs552706223 |
400 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA206461494 rs782135584 |
401 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487580 rs782135584 |
401 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376668881 rs1320681805 |
402 | D>G | No |
ClinGen TOPMed |
|
|
rs782362444 CA5487578 |
402 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 405 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001232613 CA5487573 rs576373730 |
406 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555211173 CA376668958 |
408 | S>L | No |
ClinGen gnomAD |
|
|
rs1555211175 CA376668971 |
409 | P>R | No |
ClinGen gnomAD |
|
|
rs1555211174 CA376668965 |
409 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 410 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376668978 rs1555211176 |
410 | G>R | No |
ClinGen gnomAD |
|
|
CA376668987 rs1387237583 |
410 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1588862083 CA376668998 |
411 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 412 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211179 CA376669009 |
412 | A>V | No |
ClinGen gnomAD |
|
|
rs782469310 CA206461561 |
413 | P>A | No |
ClinGen ExAC |
|
| TCGA novel | 413 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781798348 CA5487569 |
414 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555211181 CA376669059 |
416 | P>L | No |
ClinGen gnomAD |
|
|
rs1392799178 CA376669075 |
418 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 419 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487567 rs201678977 |
419 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA206461617 rs201678977 |
419 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5487565 rs782767515 |
420 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487566 rs149484678 |
420 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001240649 rs149484678 CA376669100 |
420 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376669105 rs782767515 |
420 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1836927259 RCV001246975 |
420 | A>Y | No |
ClinVar dbSNP |
|
|
rs1555211183 CA376669110 |
421 | I>V | No |
ClinGen gnomAD |
|
|
CA5487563 rs781823270 |
422 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 423 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 424 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206461646 rs1001113134 |
425 | L>V | No |
ClinGen Ensembl |
|
|
CA5487560 rs782030416 |
427 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA206461651 rs782030416 |
427 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1836927969 RCV001301907 |
428 | S>P | No |
ClinVar dbSNP |
|
|
RCV001313729 rs1488357345 CA376669206 |
429 | V>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA376669225 rs1555211187 TCGA novel |
430 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
| TCGA novel | 431 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376669243 rs1555211188 |
432 | V>M | No |
ClinGen gnomAD |
|
|
RCV001352137 rs1836928491 |
434 | V>L | No |
ClinVar dbSNP |
|
|
rs782583867 CA5487555 |
436 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782282118 CA206461687 |
441 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487554 rs782422769 |
441 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782422769 CA206461677 |
441 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs782641927 CA5487552 |
442 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA376669361 rs864621999 |
443 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001337419 CA5487550 rs781844060 |
443 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA5487549 rs200626545 |
444 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376669388 rs1565765176 |
445 | D>G | No |
ClinGen Ensembl |
|
|
rs569378041 CA5487546 RCV000939710 |
445 | D>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5487547 rs569378041 RCV001294492 |
445 | D>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1322328055 CA376669425 |
448 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1322328055 CA376669423 |
448 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1458982716 CA376669435 |
449 | D>N | No |
ClinGen TOPMed |
|
|
rs781864925 CA5487544 |
450 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 451 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466610137 CA376669460 |
451 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376669477 rs371765610 |
452 | V>A | No |
ClinGen Ensembl |
|
|
rs782096661 CA5487541 |
452 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 454 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487539 rs782705284 |
454 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 455 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 457 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211198 CA376669528 |
457 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs994398510 CA206461782 |
458 | P>L | No |
ClinGen Ensembl |
|
|
rs1565765217 CA376669558 |
460 | V>I | No |
ClinGen Ensembl |
|
|
rs782022815 CA5487537 |
461 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782242538 CA5487535 |
462 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376669612 rs1555211202 |
464 | V>G | No |
ClinGen gnomAD |
|
|
CA376669621 rs1253787314 |
465 | W>* | No |
ClinGen TOPMed |
|
|
rs1346464839 RCV001047198 CA376669620 |
465 | W>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5487533 rs782347332 |
465 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555211203 CA376669640 |
466 | E>D | No |
ClinGen gnomAD |
|
|
CA206461808 rs782195686 |
467 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487529 rs782274080 |
469 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555211205 CA376669686 |
470 | D>E | No |
ClinGen gnomAD |
|
|
rs1317908589 CA376669676 |
470 | D>H | No |
ClinGen TOPMed |
|
|
CA376669683 rs1396872307 |
470 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5487528 rs782634488 |
471 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782505300 CA5487527 RCV001344509 |
471 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs201572374 CA376669704 |
472 | E>G | No |
ClinGen 1000Genomes |
|
|
RCV001316277 rs976101975 CA206461828 |
472 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 473 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376669718 rs1555211210 |
473 | H>R | No |
ClinGen gnomAD |
|
|
CA376669731 rs1391337230 |
474 | L>H | No |
ClinGen TOPMed |
|
| TCGA novel | 475 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206461846 rs923340055 |
475 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5487525 rs782738822 |
475 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001039461 rs782443446 CA5487524 |
476 | M>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376669749 rs1448042207 |
476 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 477 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211213 CA376669763 |
477 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487523 rs781909859 |
479 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 479 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487521 RCV001239714 rs782142540 |
481 | N>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376669823 rs1555211216 |
482 | P>S | No |
ClinGen gnomAD |
|
|
rs1555211217 CA376669847 |
483 | G>E | No |
ClinGen gnomAD |
|
|
rs781986486 CA376669849 RCV001295699 CA5487519 |
484 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 489 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487515 rs782308335 |
491 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs200509782 CA5487513 |
493 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555211222 CA376669997 |
496 | F>L | No |
ClinGen gnomAD |
|
|
RCV001047243 CA5487511 rs139222112 |
497 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376670025 rs1555211224 |
498 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 499 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376670053 rs1555211225 |
500 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782619759 CA5487510 |
501 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782688383 CA5487507 |
502 | G>D | No |
ClinGen ExAC TOPMed |
|
|
CA206461953 rs782181584 |
502 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487508 RCV001204651 rs782181584 |
502 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1555211233 CA376670097 |
504 | V>E | No |
ClinGen gnomAD |
|
|
rs782543571 CA5487506 |
504 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs201808774 CA376670108 |
505 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368764316 CA376670103 |
505 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs782498728 CA5487504 |
506 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs782498728 CA5487505 |
506 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1342487279 CA376670127 |
507 | F>L | No |
ClinGen TOPMed |
|
|
rs531021257 CA376670172 |
510 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531021257 CA5487502 |
510 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1310356273 CA376670183 |
511 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000598398 rs782041794 CA376670195 |
512 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782041794 CA5487501 |
512 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419192934 CA376670199 |
512 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs781901493 CA206462021 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376670208 RCV001226658 rs1473538262 |
513 | R>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5487500 rs781901493 |
513 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141982323 CA5487499 |
514 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA206462030 rs894791259 |
516 | I>N | No |
ClinGen Ensembl |
|
|
rs782133131 CA5487498 |
517 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781974295 CA5487497 |
517 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782133131 CA206462034 |
517 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376670264 rs563600593 |
518 | Q>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
RCV001344081 rs782076733 |
520 | H>L | No |
ClinVar dbSNP |
|
|
CA5487495 rs782076733 |
520 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5487493 rs782438374 |
521 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA5487492 rs782279779 |
521 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5487491 rs782656030 |
522 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376670906 rs1555211255 |
526 | L>F | No |
ClinGen gnomAD |
|
|
RCV001322872 rs113665624 CA206463385 |
527 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5487489 rs577066945 |
528 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 529 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782450840 CA206463410 |
529 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487488 rs782450840 |
529 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035929 rs1354470616 CA376670947 |
530 | R>H | a colorectal cancer sample; somatic mutation [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA376670950 rs1354470616 |
530 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs202162675 CA5487487 |
530 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376670974 rs1555211261 |
532 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555211262 CA376670979 |
532 | S>R | No |
ClinGen gnomAD |
|
|
rs143632019 CA5487485 |
535 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487484 rs140616761 |
535 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782094221 CA5487483 |
536 | G>E | No |
ClinGen ExAC |
|
|
rs1565765515 CA376671010 |
536 | G>R | No |
ClinGen Ensembl |
|
|
CA376671019 rs1413472355 |
537 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376671022 rs1413472355 |
537 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV001307536 rs782164621 CA5487480 |
538 | Y>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA206463428 rs782722423 |
538 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782722423 CA5487481 |
538 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487478 rs376714442 |
540 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018184246 CA206463451 |
540 | L>P | No |
ClinGen gnomAD |
|
|
rs1213247528 CA376671074 |
543 | H>P | No |
ClinGen TOPMed |
|
|
CA376671071 rs1565765558 |
543 | H>Y | No |
ClinGen Ensembl |
|
|
rs782114958 CA5487477 |
544 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41284962 CA5487476 |
544 | R>P | Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA376671092 rs199769037 |
545 | T>P | No |
ClinGen Ensembl |
|
|
rs1439273931 CA376671106 |
546 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1836938847 RCV001209928 |
546 | A>N | No |
ClinVar dbSNP |
|
|
RCV001307688 CA5487473 rs782429876 |
546 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376671109 rs1439273931 |
546 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373846965 CA376671115 |
547 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487472 rs373846965 |
547 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001204943 CA5487469 rs140357670 |
549 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782601697 CA5487468 |
549 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555211269 CA376671155 |
551 | E>A | No |
ClinGen gnomAD |
|
|
CA376671172 rs1252102322 |
552 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782217999 CA5487465 |
553 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376671179 rs1555211270 |
553 | A>V | No |
ClinGen gnomAD |
|
|
CA376671184 rs1555211273 |
554 | F>L | No |
ClinGen gnomAD |
|
|
CA376671211 rs1555211279 |
556 | M>T | No |
ClinGen gnomAD |
|
|
rs1555211277 CA376671206 |
556 | M>V | No |
ClinGen gnomAD |
|
|
rs1555211280 CA376671223 |
557 | Q>L | No |
ClinGen gnomAD |
|
|
CA5487464 rs376396466 |
558 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376671247 rs1555211284 |
559 | L>Q | No |
ClinGen gnomAD |
|
|
rs1279488821 CA376671255 |
560 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1316380685 CA376671248 |
560 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 561 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221392637 CA376671290 |
563 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200980236 CA5487461 |
565 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436255831 CA376671336 |
568 | I>N | No |
ClinGen TOPMed |
|
|
rs1588862626 CA376671344 |
569 | T>P | No |
ClinGen Ensembl |
|
|
rs782705267 RCV001320399 CA5487459 |
570 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5487458 rs782172169 |
570 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs868958597 CA376671362 |
571 | G>S | No |
ClinGen Ensembl |
|
|
CA5487456 rs782379329 |
575 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 576 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 577 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487455 rs149750989 |
577 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487454 rs149750989 |
577 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487453 RCV001313567 rs782341147 |
577 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1169208510 CA376671399 |
578 | T>A | No |
ClinGen TOPMed |
|
|
CA5487451 rs782234227 RCV001058126 |
578 | T>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782234227 CA5487452 |
578 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555211292 CA376671403 |
579 | V>M | No |
ClinGen gnomAD |
|
|
CA376671409 rs1184981125 |
580 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376671410 rs1184981125 |
580 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782540705 CA5487450 |
580 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555211297 CA376671415 |
582 | L>M | No |
ClinGen gnomAD |
|
|
CA376671421 rs1555211299 |
583 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782480502 CA5487447 |
585 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 586 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782128569 CA5487441 |
586 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487440 rs781977282 |
587 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001319728 CA5487439 rs142531022 |
588 | S>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376671456 rs1555211318 |
589 | L>P | No |
ClinGen gnomAD |
|
|
CA376671458 rs1555211320 |
590 | A>T | No |
ClinGen Ensembl |
|
|
CA5487437 rs781938600 |
590 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782377821 CA206463669 |
593 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782377821 CA5487433 |
593 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5487432 rs782594138 |
594 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781947747 CA5487431 |
594 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781947747 RCV001041743 CA5487430 |
594 | P>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 594 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376671480 rs1555211326 |
595 | V>I | No |
ClinGen gnomAD |
|
|
CA5487428 rs781867669 |
597 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487427 rs781867669 |
597 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782627891 CA5487426 |
598 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs782706045 CA206463699 |
599 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487425 rs781813069 |
599 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA376671502 rs1555211333 |
600 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1249909248 CA376671516 |
601 | N>K | No |
ClinGen TOPMed |
|
|
rs61844839 CA206463702 |
602 | H>N | No |
ClinGen Ensembl |
|
|
rs782049247 CA376671524 |
602 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376671527 rs990944541 |
603 | G>A | No |
ClinGen TOPMed |
|
|
CA206463705 rs990944541 |
603 | G>D | No |
ClinGen TOPMed |
|
|
CA5487422 rs202017297 |
603 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782120620 CA5487420 |
604 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 605 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 605 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376671546 rs144324507 |
606 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376671547 rs144324507 CA5487419 |
606 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs949633694 CA206463711 |
606 | W>R | No |
ClinGen Ensembl |
|
|
rs1555211343 CA376671548 |
607 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555211346 CA376671553 |
608 | G>S | No |
ClinGen gnomAD |
|
|
CA376671559 rs1555211348 |
609 | G>D | No |
ClinGen gnomAD |
|
|
rs782071723 CA5487417 |
609 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs781924662 CA5487416 |
610 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376671566 rs781924662 |
610 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555211350 CA376671581 |
613 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368920246 CA206463785 |
615 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA206463794 rs782370605 RCV001056944 |
616 | I>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1048562705 CA206463796 |
617 | V>M | No |
ClinGen gnomAD |
|
|
CA5487412 rs782225623 |
618 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555211360 CA376671615 |
619 | A>V | No |
ClinGen gnomAD |
|
|
rs781789431 CA5487409 |
620 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549376318 CA5487408 |
621 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376671621 rs1555211362 |
621 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001062592 rs1565765941 |
622 | A>S | No |
ClinVar dbSNP |
|
|
CA376671627 rs1565765941 |
622 | A>T | No |
ClinGen Ensembl |
|
|
rs1555211363 CA376671632 |
622 | A>V | No |
ClinGen gnomAD |
|
|
RCV001247502 rs1749340128 |
624 | D>N | No |
ClinVar dbSNP |
|
| TCGA novel | 626 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376671662 rs1555211364 |
627 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 628 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565765955 CA376671676 |
629 | V>M | No |
ClinGen Ensembl |
|
|
CA5487403 rs781807941 |
632 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 632 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376671700 rs1555211366 |
633 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 637 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367843108 CA376671727 |
637 | G>R | No |
ClinGen Ensembl |
|
|
CA5487402 rs782708494 |
638 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 638 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886047019 RCV001298543 |
640 | V>G | No |
ClinVar dbSNP |
|
|
rs782245115 CA376671753 CA5487401 RCV001244229 |
641 | E>D | No |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
rs1177202213 CA376671750 |
641 | E>V | No |
ClinGen TOPMed |
|
|
rs782020776 CA5487400 |
642 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000402776 CA5487399 rs782797838 |
643 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1267656866 CA376671759 |
643 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782106845 CA5487398 |
644 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 644 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 644 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782193283 CA5487395 |
645 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs781921253 CA5487394 |
646 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 647 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376671779 rs1555211375 |
648 | E>G | No |
ClinGen gnomAD |
|
|
rs782498848 CA5487390 |
652 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5487388 rs782681548 RCV001053364 |
653 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA206464092 rs782209617 |
653 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 654 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333542652 CA376671813 |
654 | P>Q | No |
ClinGen TOPMed |
|
|
CA376671810 rs1555211379 |
654 | P>S | No |
ClinGen gnomAD |
|
|
CA5487386 rs781913850 |
655 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1306158316 CA376671826 |
656 | V>A | No |
ClinGen TOPMed |
|
|
CA376671830 rs1555211384 |
657 | V>A | No |
ClinGen gnomAD |
|
|
CA376671828 rs532389581 |
657 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001236326 CA5487384 rs532389581 |
657 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA376671836 rs868948242 |
658 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 659 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376671866 rs868989705 |
663 | L>I | No |
ClinGen Ensembl |
|
|
rs781929893 CA376671878 |
665 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487380 rs781929893 |
665 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5487381 rs782074671 |
665 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376671882 rs1555211386 |
666 | A>D | No |
ClinGen gnomAD |
|
|
rs868924042 CA376671886 |
667 | K>E | No |
ClinGen Ensembl |
|
|
rs782166426 CA5487378 |
667 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555211388 CA376671898 |
669 | A>S | No |
ClinGen gnomAD |
|
|
CA376671896 rs1555211388 |
669 | A>T | No |
ClinGen gnomAD |
|
|
rs1455406006 CA376671903 |
670 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 670 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376671915 rs1158993702 |
672 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1032342823 CA206464176 |
672 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs782227889 CA5487375 |
674 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782227889 CA376671929 |
674 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487374 rs373691531 RCV001304028 |
674 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1192156226 RCV001049175 CA376671933 |
675 | T>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1555211393 CA376671937 |
676 | A>T | No |
ClinGen gnomAD |
|
|
rs782322148 CA5487373 |
676 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376671944 rs1555211395 |
677 | V>A | No |
ClinGen gnomAD |
|
|
CA5487372 rs782184079 |
678 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 680 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782691907 CA5487371 |
681 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA206464187 rs782691907 |
681 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555211398 CA376671972 |
682 | L>P | No |
ClinGen gnomAD |
|
|
CA376671978 rs1248250176 |
683 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs371457182 CA376671986 |
685 | Q>* | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 685 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487370 rs782544718 |
687 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555211402 CA376672012 CA376672013 |
689 | D>E | No |
ClinGen gnomAD |
|
|
rs782491752 CA5487368 |
692 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5487369 rs150902800 |
692 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs112888313 CA376672029 |
693 | V>L | Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs782720269 CA5487367 |
695 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 697 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374030818 CA5487364 |
698 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374030818 CA5487365 RCV001243862 |
698 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1439875662 CA376672058 |
698 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs1321429141 CA376672066 |
699 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs17095789 CA5487363 |
699 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782725069 CA5487361 |
700 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5487360 rs781920668 |
701 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781920668 CA5487359 |
701 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782158239 CA5487357 |
702 | F>L | No |
ClinGen ExAC |
|
|
rs1555211413 CA376672092 |
704 | S>N | No |
ClinGen gnomAD |
|
|
CA376672095 rs1172385865 |
704 | S>R | No |
ClinGen TOPMed |
|
|
rs201766131 CA5487356 |
705 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5487355 rs782380036 |
706 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001346807 CA5487352 rs782314171 |
707 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs141453777 CA5487350 RCV001048592 |
710 | V>A | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs141453777 CA5487349 |
710 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs900979204 CA206464398 |
710 | V>I | No |
ClinGen Ensembl |
|
|
CA376672127 rs1555211414 RCV000994385 |
711 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 711 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868983465 CA376672129 |
712 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555211415 CA376672139 |
713 | A>E | No |
ClinGen gnomAD |
|
|
rs148332315 CA5487348 RCV001229141 |
713 | A>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs148332315 CA376672137 |
713 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199522516 CA5487347 |
714 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 715 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299574313 CA376672149 |
715 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 716 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487346 rs782475739 |
717 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1294879816 CA376672191 |
718 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781813519 CA5487345 |
718 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487343 rs782162558 |
720 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 723 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 725 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371511644 CA376672325 |
727 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1371511644 CA376672329 |
727 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA376672359 rs1372129460 |
729 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376672355 rs1372129460 |
729 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1053679537 CA206464510 |
730 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs567973114 CA5487338 RCV001063356 |
732 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA206464523 rs893820509 |
732 | A>V | No |
ClinGen Ensembl |
|
|
CA5487336 rs375457251 |
733 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 734 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782273341 CA5487335 |
735 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV001296791 rs1836955665 |
736 | T>A | No |
ClinVar dbSNP |
|
|
rs782659258 CA5487334 |
736 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA376672445 rs1276428832 |
737 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1588863188 CA376672454 |
738 | V>G | No |
ClinGen Ensembl |
|
|
rs1555211423 CA376672461 |
740 | P>T | No |
ClinGen gnomAD |
|
|
rs143110000 RCV001327513 CA5487332 |
741 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376672505 rs1291545367 |
742 | Q>H | No |
ClinGen TOPMed |
|
|
rs1331529316 CA376672522 |
744 | G>C | No |
ClinGen TOPMed |
|
|
CA376672540 rs1163454155 |
745 | Y>C | No |
ClinGen TOPMed |
|
|
CA376672534 rs1396278861 |
745 | Y>H | No |
ClinGen TOPMed |
|
|
CA5487329 rs782664364 |
747 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5487326 rs782753173 |
750 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782753173 CA206464596 |
750 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376672620 rs1555211430 |
750 | A>V | No |
ClinGen gnomAD |
|
|
rs781801875 CA5487324 |
751 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5487325 rs782462707 |
751 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA376672639 rs1555211433 |
752 | A>T | No |
ClinGen Ensembl |
|
|
rs1836956706 RCV001297323 |
753 | E>K | No |
ClinVar dbSNP |
|
|
rs782692325 CA5487323 |
756 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782160182 CA5487322 |
756 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001307193 rs1836956908 |
758 | K>R | No |
ClinVar dbSNP |
|
| TCGA novel | 759 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 759 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376672761 rs1588863274 |
760 | V>G | No |
ClinGen Ensembl |
|
|
rs782109249 CA206464636 |
760 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001316302 CA5487319 rs782109249 |
760 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001315724 rs1555211441 |
761 | G>A | No |
ClinVar dbSNP |
|
|
rs1555211441 CA376672774 |
761 | G>E | No |
ClinGen gnomAD |
|
|
rs782331853 CA5487317 |
763 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 765 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 766 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145140816 CA5487315 |
766 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001234789 rs782187246 CA5487316 |
766 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs782409062 CA376672865 |
768 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs782409062 CA5487314 |
768 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA376672860 rs1232735514 |
768 | V>I | No |
ClinGen TOPMed |
|
|
rs782265218 CA5487313 |
771 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs782651156 CA5487312 |
773 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335496208 CA376672949 |
775 | T>A | No |
ClinGen TOPMed |
|
|
CA5487310 RCV001314703 rs201724324 |
775 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA206464711 rs201724324 |
775 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376672951 rs1555211449 |
776 | A>T | No |
ClinGen Ensembl |
|
|
rs782431515 CA5487308 |
776 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 777 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487307 RCV001238392 rs145437524 |
777 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 779 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588863329 CA376672971 |
779 | V>G | No |
ClinGen Ensembl |
|
|
CA376672967 rs1457309714 |
779 | V>L | No |
ClinGen TOPMed |
|
|
CA376672977 rs1409581493 |
780 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1588863341 CA376672979 |
781 | D>A | No |
ClinGen Ensembl |
|
|
CA376672982 rs1565766569 |
781 | D>E | No |
ClinGen Ensembl |
|
|
rs145285304 CA5487304 RCV001207193 |
781 | D>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5487303 rs145285304 |
781 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5487302 rs141164272 |
783 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781921570 CA5487301 |
783 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1467012728 CA376672992 |
784 | Y>H | No |
ClinGen TOPMed |
|
|
CA206464736 rs1054318097 |
785 | N>D | No |
ClinGen TOPMed |
|
|
rs782153041 CA5487299 |
786 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200368290 TCGA novel RCV001208730 |
787 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
rs200368290 CA376673013 |
787 | G>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5487296 RCV000994384 rs782234691 |
788 | S>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 788 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 789 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 789 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045075808 CA206464774 |
791 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs561239259 CA5487295 |
791 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 792 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575232815 CA5487292 |
793 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782530735 CA5487291 |
794 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 794 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275752723 CA376673054 |
795 | L>P | No |
ClinGen TOPMed |
|
|
CA376673057 rs1555211458 |
796 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 800 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211463 CA376673098 |
801 | F>L | No |
ClinGen Ensembl |
|
|
CA376673095 RCV000994383 rs1588863398 |
801 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 802 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 804 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 804 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782478657 CA5487288 |
805 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1435429358 CA376673127 |
806 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1435429358 CA376673126 |
806 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782561816 CA5487286 |
807 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA376673138 rs1555211467 |
808 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 808 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375493865 CA376673144 |
809 | L>R | No |
ClinGen ESP TOPMed |
|
|
CA5487285 RCV001231008 rs782564424 |
810 | Y>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 811 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376673158 rs1555211470 |
812 | V>F | No |
ClinGen Ensembl |
|
|
rs1399979153 CA376673166 |
813 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 814 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781890578 CA5487284 |
815 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5487283 rs544729230 |
816 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376673185 rs1555211473 |
816 | A>V | No |
ClinGen gnomAD |
|
|
CA376673187 rs1452306351 |
817 | T>A | No |
ClinGen TOPMed |
|
|
rs782751104 CA5487280 |
819 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA376673205 rs1555211477 |
820 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 820 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 821 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487279 rs782069869 |
821 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782409386 CA5487277 |
823 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555211479 CA376673235 |
825 | T>A | No |
ClinGen gnomAD |
|
|
rs782139376 CA5487276 |
826 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1555211481 CA376673246 |
827 | P>L | No |
ClinGen gnomAD |
|
|
CA5487275 rs781994065 |
827 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA206465024 rs781994065 |
827 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA376673256 rs1446558560 |
828 | Q>H | No |
ClinGen TOPMed |
|
|
CA376673257 rs1555211482 |
829 | V>I | No |
ClinGen gnomAD |
|
|
rs782226632 CA206465045 |
830 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782226632 CA5487273 |
830 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782324558 CA206465046 |
831 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487271 rs782324558 RCV001326904 |
831 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 832 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487268 rs781857602 |
834 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA376673293 rs1432808139 |
836 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781815408 CA5487266 |
836 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5487265 rs782684030 |
839 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487264 rs782153546 |
841 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 843 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376673332 rs1555211487 |
843 | L>M | No |
ClinGen gnomAD |
|
|
CA376673341 rs1185069667 |
844 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782114820 CA5487261 |
844 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs782114820 CA5487262 |
844 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA376673346 rs1475109267 |
845 | S>N | No |
ClinGen TOPMed |
|
|
CA376673352 rs1555211488 |
846 | H>D | No |
ClinGen gnomAD |
|
|
rs782342117 CA5487259 |
847 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487260 rs781963159 |
847 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555211492 CA376673362 |
848 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001049553 rs1836963009 |
848 | S>R | No |
ClinVar dbSNP |
|
|
rs1190641007 CA376673376 |
850 | S>P | No |
ClinGen TOPMed |
|
|
CA5487257 rs782402786 |
851 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782402786 CA5487256 |
851 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 853 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782365060 CA5487253 |
853 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487252 rs782219670 |
856 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555211495 CA376673417 |
856 | A>V | No |
ClinGen gnomAD |
|
|
rs1555211497 CA376673419 |
857 | H>Y | No |
ClinGen gnomAD |
|
|
rs1836963870 RCV001341280 |
858 | T>N | No |
ClinVar dbSNP |
|
|
rs1294630384 CA376673434 |
859 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1294630384 RCV001315699 CA376673433 |
859 | M>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs577807789 CA5487249 RCV001204211 |
859 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001301295 CA5487248 rs782667242 |
860 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5487247 rs782507858 |
861 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5487243 rs781806123 |
864 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs781806123 RCV001340594 CA5487244 |
864 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 866 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782152099 RCV001039779 CA5487241 |
866 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 867 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487239 rs367744823 |
868 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 870 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781960767 CA5487237 |
871 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555211499 CA376673939 |
871 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782334006 CA5487236 |
872 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376673965 rs1555211501 |
873 | A>S | No |
ClinGen gnomAD |
|
|
rs1555211501 RCV001309780 |
873 | A>T | No |
ClinVar dbSNP |
|
|
rs782402127 RCV001324755 CA5487233 |
874 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001314991 rs1555211504 CA376674003 |
875 | G>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV001242936 CA206465332 rs1045036678 |
875 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs138240045 CA5487230 |
876 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335079554 CA376674035 |
877 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 880 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230910702 CA376674095 |
880 | G>D | No |
ClinGen TOPMed |
|
|
rs1555211509 CA376674123 |
881 | I>S | No |
ClinGen gnomAD |
|
|
CA376674133 rs1333607586 |
882 | Y>N | No |
ClinGen TOPMed |
|
|
CA376674162 rs1555211514 |
883 | Q>K | No |
ClinGen gnomAD |
|
|
CA376674272 rs1555211516 |
886 | S>N | No |
ClinGen gnomAD |
|
|
rs1555211518 CA376674288 |
887 | S>G | No |
ClinGen gnomAD |
|
|
CA376674328 rs1555211519 |
888 | P>R | No |
ClinGen gnomAD |
|
|
rs370396122 CA5487227 |
890 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001308629 CA5487226 rs782780175 |
891 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 892 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA206465373 rs887214092 |
892 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 893 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211526 CA376674460 |
894 | P>S | No |
ClinGen gnomAD |
|
|
CA376674493 rs1417305282 |
895 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA376674482 rs1417305282 |
895 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782507964 CA5487224 |
897 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376674550 rs1555211529 |
898 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 898 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376674541 rs1555211528 |
898 | A>T | No |
ClinGen gnomAD |
|
|
TCGA novel rs368139421 CA5487222 |
899 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC gnomAD NCI-TCGA |
|
CA5487223 rs547864418 |
899 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376674566 rs547864418 |
899 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376674564 rs547864418 |
899 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782070514 CA5487221 |
900 | S>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001322014 rs782818273 CA5487219 |
900 | S>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5487220 rs782818273 |
900 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 901 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782142964 CA5487218 |
902 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373766942 CA5487216 |
903 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555211532 CA376674651 |
904 | G>D | No |
ClinGen gnomAD |
|
|
CA376674642 rs1555211531 |
904 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 905 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376674687 rs1555211533 |
906 | A>T | No |
ClinGen gnomAD |
|
|
CA5487212 rs782175462 |
908 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487213 rs782319900 |
908 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1467623422 CA376674775 |
911 | G>A | No |
ClinGen TOPMed |
|
|
rs1467623422 CA376674777 |
911 | G>V | No |
ClinGen TOPMed |
|
|
rs782417123 CA376674823 RCV001350971 |
914 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 914 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000153814 rs727504123 CA234768 |
915 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs727504123 CA5487209 |
915 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555211542 CA376674845 |
916 | I>F | No |
ClinGen gnomAD |
|
|
rs1555211543 CA376674893 |
919 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 920 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1836968370 RCV001060786 |
921 | S>N | No |
ClinVar dbSNP |
|
|
CA5487206 rs141749618 |
922 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 923 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201143677 CA5487205 |
926 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439010008 CA376674984 |
926 | I>V | No |
ClinGen TOPMed |
|
|
rs1390054797 CA376675004 |
927 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA376675010 rs1555211549 |
928 | Q>* | No |
ClinGen gnomAD |
|
|
rs1455753138 CA376675023 |
929 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs370922435 CA376675046 |
930 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782772636 CA376675044 |
930 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs782772636 CA5487204 |
930 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376675052 rs868916248 |
931 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 932 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376675076 rs1454977555 |
933 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 933 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487201 rs200537174 |
934 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA206465595 rs955233517 |
934 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 935 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376675144 rs1261761299 |
938 | P>S | No |
ClinGen TOPMed |
|
|
rs1206396792 CA376675154 |
939 | T>A | No |
ClinGen TOPMed |
|
|
rs201711001 CA206465602 |
939 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201711001 CA5487200 |
939 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201711001 RCV001230163 CA206465598 |
939 | T>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs781985780 CA5487196 |
942 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782362888 CA5487195 |
943 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA206465670 rs957150657 |
944 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5487192 rs782311896 |
945 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 949 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376675300 rs1555211563 |
950 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376675331 rs1565767062 |
952 | Y>S | No |
ClinGen Ensembl |
|
|
rs782664734 CA5487190 |
953 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 954 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376675408 rs1465185796 |
958 | G>A | No |
ClinGen TOPMed |
|
|
CA5487187 rs782468363 |
958 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA206465745 rs782659485 |
961 | M>L | No |
ClinGen gnomAD |
|
|
RCV001316650 rs782697023 CA5487185 |
961 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376675446 rs782659485 |
961 | M>V | No |
ClinGen gnomAD |
|
|
rs1426209551 CA376675457 |
962 | A>T | No |
ClinGen TOPMed |
|
|
rs200706310 RCV001296542 CA5487184 |
963 | T>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs373375563 CA376675502 |
965 | L>P | No |
ClinGen ESP |
|
|
rs782330004 CA5487179 |
969 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1209861528 RCV001350573 |
970 | S>N | No |
ClinVar dbSNP |
|
|
CA376675591 rs1209861528 |
970 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs373522557 CA5487178 |
971 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs559034038 CA5487173 |
975 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559034038 CA206465825 |
975 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5487175 rs577173606 CA5487174 |
975 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577173606 CA206465807 |
975 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555211577 CA376675705 |
978 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 978 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277648053 RCV001239917 CA376675725 |
979 | V>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs782295621 CA5487169 |
983 | E>K | Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376675815 rs1555211580 |
986 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs782656430 TCGA novel CA5487168 |
986 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs782656430 CA376675813 |
986 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 987 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 989 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781838577 CA5487166 |
991 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1836973185 RCV001320869 |
991 | M>L | No |
ClinVar dbSNP |
|
|
RCV001296631 rs782670311 CA5487165 |
992 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5487164 rs782670311 |
992 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147772956 CA5487162 |
994 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376675928 rs1460157535 |
995 | D>G | No |
ClinGen TOPMed |
|
|
CA206465879 rs782157847 |
995 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs782157847 CA5487161 |
995 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 996 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 998 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 999 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 999 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211585 CA376676012 |
1001 | A>G | No |
ClinGen gnomAD |
|
|
CA376676006 rs1165041660 |
1001 | A>T | No |
ClinGen TOPMed |
|
|
rs1555211587 RCV001036587 CA376676030 |
1002 | H>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1565767214 CA376676047 |
1003 | I>N | No |
ClinGen Ensembl |
|
|
rs1255280536 CA376676059 |
1004 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1004 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1008 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487157 rs781946449 RCV001326824 |
1009 | D>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs998916702 CA206465883 |
1010 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs149031179 RCV001040834 CA5487156 |
1010 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5487155 rs782181002 |
1012 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1012 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1013 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1013 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211592 CA376676139 |
1014 | I>T | No |
ClinGen gnomAD |
|
|
CA376676143 rs1337728473 |
1015 | V>L | No |
ClinGen TOPMed |
|
|
rs144874050 CA206465919 |
1016 | P>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 1016 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1017 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1019 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376676292 rs1258032515 |
1020 | P>L | No |
ClinGen TOPMed |
|
|
rs148591757 CA376676297 |
1021 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1221007490 CA376676303 |
1022 | P>L | No |
ClinGen TOPMed |
|
|
rs1279328377 CA376676298 |
1022 | P>S | No |
ClinGen TOPMed |
|
|
CA5487137 rs149900201 RCV001315048 |
1029 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376676359 rs1403864985 CA376676360 |
1030 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV001229070 CA376676362 rs1300784216 |
1031 | F>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA376676365 rs1555211784 |
1031 | F>S | No |
ClinGen gnomAD |
|
|
RCV001352265 rs139366460 CA5487135 |
1032 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs782086376 CA5487136 |
1032 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1033 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487133 rs782294700 |
1035 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs151292277 CA5487131 |
1037 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143900547 CA376676430 |
1042 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5487128 rs782462545 |
1046 | R>S | No |
ClinGen ExAC |
|
|
CA5487127 rs781798688 |
1047 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs782564030 CA5487126 |
1049 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1049 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487125 rs782566632 |
1051 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781887828 CA5487124 |
1052 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs140160521 CA206467047 |
1053 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555211792 CA376676513 |
1056 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs864622002 CA206467109 |
1059 | V>L | No |
ClinGen TOPMed |
|
|
rs782044099 CA5487119 |
1060 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs782044099 CA206467116 |
1060 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs782029052 CA5487118 RCV001339570 |
1061 | R>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 1061 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376676565 rs1555211794 |
1065 | E>V | No |
ClinGen gnomAD |
|
|
rs1316566744 CA376676582 |
1067 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA376676589 TCGA novel rs1555211795 |
1068 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
| TCGA novel | 1068 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1070 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782353104 CA5487114 |
1071 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376676618 rs1555211798 |
1072 | M>T | No |
ClinGen gnomAD |
|
|
rs1245980865 CA376676636 |
1074 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1075 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782315498 CA5487111 |
1076 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA376676652 rs1310062194 |
1077 | M>T | No |
ClinGen TOPMed |
|
|
CA376676661 rs1555211803 |
1078 | I>T | No |
ClinGen gnomAD |
|
|
CA376676658 rs1451503246 |
1078 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376676664 rs946637226 |
1079 | I>F | No |
ClinGen gnomAD |
|
|
CA206467195 rs946637226 |
1079 | I>V | No |
ClinGen gnomAD |
|
|
RCV001341172 rs1837007677 |
1081 | M>I | No |
ClinVar dbSNP |
|
|
CA376676676 rs1395683742 |
1081 | M>L | No |
ClinGen TOPMed |
|
|
RCV001295814 rs1395683742 |
1081 | M>V | No |
ClinVar dbSNP |
|
|
CA376676745 rs1555211907 |
1082 | R>S | No |
ClinGen gnomAD |
|
|
CA376676759 rs1555211909 |
1084 | N>S | No |
ClinGen gnomAD |
|
|
rs782646008 CA5487085 |
1085 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1588865654 CA376676764 |
1085 | I>V | No |
ClinGen Ensembl |
|
|
rs1481558190 CA376676768 |
1086 | G>S | No |
ClinGen TOPMed |
|
|
rs375807006 CA376676780 |
1088 | P>S | No |
ClinGen ESP |
|
|
CA5487084 rs142812211 |
1089 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376676797 rs1565768629 |
1091 | S>C | No |
ClinGen Ensembl |
|
|
CA5487083 rs781832147 |
1092 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1093 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487082 rs782714886 |
1093 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555211913 CA376676810 |
1094 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1099 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292693470 CA376676844 |
1099 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1101 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555211914 CA376676861 |
1101 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1102 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376676873 rs1357306023 |
1103 | G>S | No |
ClinGen TOPMed |
|
|
CA5487080 rs781797622 |
1104 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1105 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376676943 rs201185969 |
1114 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201185969 CA5487077 |
1114 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487078 rs782815857 RCV001231983 |
1114 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 1117 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200488438 CA5487076 |
1118 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200488438 CA5487075 |
1118 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782095292 CA5487073 |
1119 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1121 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487071 rs781940259 |
1122 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782304919 CA5487070 |
1122 | L>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001243064 rs1304540073 CA376677008 |
1125 | H>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs144751738 CA5487067 RCV001052927 |
1126 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001034888 CA376677015 rs1159193211 |
1126 | A>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA376677026 rs1588865742 |
1128 | V>F | No |
ClinGen Ensembl |
|
|
CA376677034 rs1176557967 |
1129 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA376677108 rs1370633273 |
1130 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1131 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376677121 RCV001296256 rs1186084355 |
1132 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA376677122 rs1555212051 |
1132 | R>H | No |
ClinGen gnomAD |
|
|
rs1555212052 CA376677132 |
1133 | Y>* | No |
ClinGen gnomAD |
|
|
CA376677143 rs1423548623 |
1135 | S>C | No |
ClinGen TOPMed |
|
|
CA376677144 rs1555212055 |
1136 | K>Q | No |
ClinGen gnomAD |
|
|
CA206469884 rs369003896 |
1137 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5487050 rs781985197 |
1138 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001320057 rs1837057926 |
1139 | M>V | No |
ClinVar dbSNP |
|
|
RCV001342130 CA376677175 rs1481868848 |
1140 | V>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 1142 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1142 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1147 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487047 rs781926837 |
1147 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1148 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202008495 RCV001316020 CA5487044 |
1149 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1150 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782249467 RCV001060955 CA5487042 |
1151 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1387383463 CA376677251 |
1153 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA376677260 rs1565769426 |
1154 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA376677262 rs1161590475 |
1154 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1156 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376677274 rs1555212058 |
1156 | Y>H | No |
ClinGen gnomAD |
|
|
CA5487038 rs782689024 |
1158 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487036 rs782526022 |
1158 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782689024 CA5487037 |
1158 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199170619 CA376677299 |
1160 | R>K | No |
ClinGen TOPMed |
|
|
CA376677317 rs1264614759 RCV001344314 |
1163 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs782094791 CA5487033 |
1163 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5487032 rs781818114 |
1164 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782059910 CA5487030 |
1166 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA376677326 rs782707480 |
1166 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487031 rs782707480 |
1166 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5487029 rs782037765 |
1167 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5487027 rs782133870 |
1169 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA376677348 rs1588866398 |
1170 | V>G | No |
ClinGen Ensembl |
|
|
CA5487026 rs781988474 |
1171 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001230136 rs781988474 |
1171 | T>S | No |
ClinVar dbSNP |
|
| TCGA novel | 1172 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555212060 CA376677356 |
1172 | S>N | No |
ClinGen gnomAD |
|
|
CA376677364 rs1555212061 |
1173 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1174 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376677377 rs1588866404 |
1175 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1176 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555212062 CA376677387 |
1177 | P>T | No |
ClinGen gnomAD |
|
|
CA5487020 rs782637904 |
1178 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376677405 rs906717804 |
1180 | T>P | No |
ClinGen Ensembl |
|
|
CA206470019 rs906717804 |
1180 | T>S | No |
ClinGen Ensembl |
|
|
CA376677411 rs1555212063 |
1181 | Y>H | No |
ClinGen gnomAD |
|
|
CA5487018 rs74578742 |
1182 | H>Q | Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs782447533 CA5487016 |
1183 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1184 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376677498 rs1555212067 |
1189 | Y>F | No |
ClinGen gnomAD |
|
|
rs1555212065 CA376677490 |
1189 | Y>H | No |
ClinGen gnomAD |
|
|
rs1555212068 CA376677507 |
1190 | L>F | No |
ClinGen gnomAD |
|
|
rs782818142 CA5487014 |
1191 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5487012 rs782759936 |
1193 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782759936 CA5487011 |
1193 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565769520 CA376677560 |
1195 | A>T | No |
ClinGen Ensembl |
|
|
rs267602496 CA5487009 |
1196 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001057426 CA5487007 rs558333123 |
1196 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs558333123 CA5487008 |
1196 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777713935 CA206470171 |
1197 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1198 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1199 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001051143 CA376677626 rs1375634622 |
1201 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA376677619 rs1555212070 |
1201 | S>P | No |
ClinGen gnomAD |
|
|
CA376677639 rs1588866449 |
1202 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1202 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449544937 CA376677661 |
1204 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1207 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5487003 rs375650820 |
1208 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000994382 rs1206764279 CA376677710 |
1208 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs782185854 CA5487001 |
1209 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782334247 CA5487002 |
1209 | V>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001300797 rs782126726 |
1210 | G>* | No |
ClinVar dbSNP |
|
|
rs140740560 CA376677729 |
1210 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA376677725 rs1555212077 |
1210 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA376677744 rs1588866475 |
1211 | V>G | No |
ClinGen Ensembl |
|
|
rs1202037718 CA376677738 |
1211 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376677735 rs1202037718 |
1211 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1213 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376677778 rs1273315621 |
1214 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5486994 rs150921795 |
1216 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 1216 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782448127 CA5486992 |
1219 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5486993 rs782748704 |
1219 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs555568551 CA206470334 |
1221 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1171666568 CA376677855 |
1221 | E>D | No |
ClinGen TOPMed |
|
|
rs555568551 CA376677847 |
1221 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs555568551 CA206470290 |
1221 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5486991 rs143507852 |
1223 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs546489667 CA5486988 RCV001203028 |
1224 | A>S | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs546489667 CA5486987 |
1224 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5486986 rs782076623 |
1226 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1228 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376677926 rs1555212081 |
1230 | L>V | No |
ClinGen gnomAD |
|
|
CA376677934 rs1555212082 |
1231 | Q>H | No |
ClinGen gnomAD |
|
|
CA376677933 rs1189295011 |
1231 | Q>K | No |
ClinGen TOPMed |
|
|
rs781930214 CA5486985 |
1231 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA376677950 rs1440493185 |
1233 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1276718751 CA376677953 |
1234 | Q>* | No |
ClinGen TOPMed |
|
|
RCV001301412 rs3740296 |
1236 | R>M | No |
ClinVar dbSNP |
|
|
rs782400463 CA5486981 RCV001244441 |
1239 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs111792211 RCV001204659 CA5486982 |
1239 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs782623004 CA5486979 RCV001052379 |
1240 | S>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs782623004 CA5486980 |
1240 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1588866519 CA376678000 |
1242 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1244 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5486976 CA206470464 rs782561773 |
1245 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1285307142 CA376678022 |
1246 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
1 associated diseases with P10745
[MIM: 615233]: Retinitis pigmentosa 66 (RP66)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:19074801, ECO:0000269|PubMed:23486466}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:19074801, ECO:0000269|PubMed:23486466}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P10745
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tail specific protease | 109 - 308 | IPR005151-1 |
| domain | Tail specific protease | 418 - 618 | IPR005151-2 |
| domain | Tail specific protease | 722 - 919 | IPR005151-3 |
| domain | Tail specific protease | 1021 - 1218 | IPR005151-4 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cone matrix sheath | A biochemically and structurally distinct domain of the retinal interphotoreceptor matrix that is specifically associated with cone photoreceptor cell inner and outer segments. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| retinal binding | Binding to retinal, one of the forms of vitamin A. Retinal plays an important role in the visual process in most vertebrates, combining with opsins to form visual pigments in the retina. |
| retinoid binding | Binding to a retinoid, a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. |
| retinol binding | Binding to retinol, vitamin A1, 2,6,6-trimethyl-1-(9'-hydroxy-3',7'-dimethylnona-1',3',5',7'-tetraenyl)cyclohex-1-ene, one of the three components that makes up vitamin A. Retinol is an intermediate in the vision cycle and it also plays a role in growth and differentiation. |
| serine-type peptidase activity | Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| retinoid metabolic process | The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMREWVLLMS | VLLCGLAGPT | HLFQPSLVLD | MAKVLLDNYC | FPENLLGMQE | AIQQAIKSHE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILSISDPQTL | ASVLTAGVQS | SLNDPRLVIS | YEPSTPEPPP | QVPALTSLSE | EELLAWLQRG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRHEVLEGNV | GYLRVDSVPG | QEVLSMMGEF | LVAHVWGNLM | GTSALVLDLR | HCTGGQVSGI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PYIISYLHPG | NTILHVDTIY | NRPSNTTTEI | WTLPQVLGER | YGADKDVVVL | TSSQTRGVAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DIAHILKQMR | RAIVVGERTG | GGALDLRKLR | IGESDFFFTV | PVSRSLGPLG | GGSQTWEGSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLPCVGTPAE | QALEKALAIL | TLRSALPGVV | HCLQEVLKDY | YTLVDRVPTL | LQHLASMDFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TVVSEEDLVT | KLNAGLQAAS | EDPRLLVRAI | GPTETPSWPA | PDAAAEDSPG | VAPELPEDEA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IRQALVDSVF | QVSVLPGNVG | YLRFDSFADA | SVLGVLAPYV | LRQVWEPLQD | TEHLIMDLRH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NPGGPSSAVP | LLLSYFQGPE | AGPVHLFTTY | DRRTNITQEH | FSHMELPGPR | YSTQRGVYLL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TSHRTATAAE | EFAFLMQSLG | WATLVGEITA | GNLLHTRTVP | LLDTPEGSLA | LTVPVLTFID |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NHGEAWLGGG | VVPDAIVLAE | EALDKAQEVL | EFHQSLGALV | EGTGHLLEAH | YARPEVVGQT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SALLRAKLAQ | GAYRTAVDLE | SLASQLTADL | QEVSGDHRLL | VFHSPGELVV | EEAPPPPPAV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PSPEELTYLI | EALFKTEVLP | GQLGYLRFDA | MAELETVKAV | GPQLVRLVWQ | QLVDTAALVI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DLRYNPGSYS | TAIPLLCSYF | FEAEPRQHLY | SVFDRATSKV | TEVWTLPQVA | GQRYGSHKDL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YILMSHTSGS | AAEAFAHTMQ | DLQRATVIGE | PTAGGALSVG | IYQVGSSPLY | ASMPTQMAMS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ATTGKAWDLA | GVEPDITVPM | SEALSIAQDI | VALRAKVPTV | LQTAGKLVAD | NYASAELGAK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| MATKLSGLQS | RYSRVTSEVA | LAEILGADLQ | MLSGDPHLKA | AHIPENAKDR | IPGIVPMQIP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SPEVFEELIK | FSFHTNVLED | NIGYLRFDMF | GDGELLTQVS | RLLVEHIWKK | IMHTDAMIID |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| MRFNIGGPTS | SIPILCSYFF | DEGPPVLLDK | IYSRPDDSVS | ELWTHAQVVG | ERYGSKKSMV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ILTSSVTAGT | AEEFTYIMKR | LGRALVIGEV | TSGGCQPPQT | YHVDDTNLYL | TIPTARSVGA |
| 1210 | 1220 | 1230 | 1240 | ||
| SDGSSWEGVG | VTPHVVVPAE | EALARAKEML | QHNQLRVKRS | PGLQDHL |