Q86VQ0
PR
Gene name |
LCA5 (C6orf152) |
Protein name |
Lebercilin |
Names |
Leber congenital amaurosis 5 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:167691 |
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 Q86VQ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86VQ0-F1 | Predicted | AlphaFoldDB |
621 variants for Q86VQ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002558578 CA3901234 RCV001163895 rs746949921 RCV002558577 |
7 | S>G | Leber congenital amaurosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002550741 CA3901228 RCV001239123 RCV001000730 rs186642323 |
13 | E>G | Leber congenital amaurosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000987744 VAR_023094 RCV000367055 RCV000153451 RCV001511187 rs2655655 CA180173 |
24 | L>S | Leber congenital amaurosis 1 Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199902236 RCV001049487 RCV001273013 CA3901220 |
25 | S>P | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000314829 RCV000153450 RCV001522465 CA180171 rs34068461 VAR_038989 |
26 | D>A | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1766528592 RCV001257102 |
31 | Q>missing | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001308474 RCV001835509 CA3901215 rs745815628 RCV002543238 |
33 | S>F | Leber congenital amaurosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3901212 RCV001257103 RCV001046883 rs748370008 |
35 | R>* | Leber congenital amaurosis 5 (lca5) Leber congenital amaurosis 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001835250 rs768698579 CA3901193 RCV001245873 |
61 | H>Y | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001301882 RCV001836269 CA364631266 rs1219803534 |
62 | H>Q | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs35338066 VAR_038990 RCV000877802 CA3901171 RCV001273012 |
66 | R>Q | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000354515 CA10627664 rs886061789 |
71 | K>E | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819586 CA3901162 RCV001003074 rs781035395 COSM3176077 |
80 | R>* | Variant assessed as Somatic; 0.0 impact. liver Leber congenital amaurosis [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001273011 RCV001049491 rs750430540 CA3901157 |
84 | R>C | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs34531407 CA3901149 RCV001241698 RCV000297322 |
94 | R>Q | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001272081 RCV003160295 rs771098708 RCV001042881 CA3901150 |
94 | R>W | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001830310 RCV001318150 rs757969727 CA3901141 |
103 | R>W | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3901135 RCV000878319 RCV001001709 RCV001272080 rs181890907 |
113 | N>S | Leber congenital amaurosis 5 Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1766318937 RCV001257104 |
132 | E>G | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001553635 RCV000400678 RCV001199700 CA3901128 rs200395970 RCV001861293 |
134 | K>T | Retinitis pigmentosa Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001273010 RCV002553249 CA364628843 rs901281230 RCV001051267 |
157 | I>V | Leber congenital amaurosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3901115 RCV001043444 rs533963525 RCV001273009 |
162 | F>L | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001163585 CA3901112 RCV002557398 rs189168054 |
163 | R>H | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA141844621 RCV001828846 rs1006764386 RCV001231455 |
166 | N>S | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002550740 rs745520623 RCV002549138 CA3901106 RCV001000729 |
171 | L>F | Leber congenital amaurosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002282423 RCV001860548 rs1286660951 RCV001199701 |
172 | K>missing | Retinitis pigmentosa Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374629518 CA3901105 RCV001835524 RCV001309867 |
174 | R>C | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3901104 rs144016257 RCV001341331 RCV002546929 RCV001535703 |
174 | R>H | Leber congenital amaurosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1766311895 RCV001257105 |
176 | R>missing | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249883 rs1766311095 |
179 | Q>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257106 rs1766311263 |
179 | Q>missing | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3901098 RCV001836351 RCV001350907 rs758637325 |
184 | A>V | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000415875 rs1057519136 RCV001257107 |
192 | T>missing | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001272078 RCV002552069 CA3901091 rs775866690 RCV001034869 |
199 | T>A | Leber congenital amaurosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1766298401 RCV001257108 |
204 | Q>* | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001093186 rs878853382 RCV000225651 |
211 | E>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001073262 rs1766296436 |
216 | P>R | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371429608 RCV001163584 RCV002557397 CA3901083 |
217 | E>A | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081583 | 218 | R>G | LCA5; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001075217 CA3901080 rs750639988 |
221 | L>V | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779230735 RCV001831041 RCV001337254 CA3901079 |
222 | A>P | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201349266 RCV001208943 CA141844376 RCV001833835 |
229 | E>D | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001835120 CA3901073 rs770888765 RCV001242141 |
229 | E>Q | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001048900 RCV001272076 CA3901070 rs377719240 |
236 | E>K | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001257109 rs1769904494 |
249 | S>missing | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3901029 RCV001234057 RCV001828861 rs151017794 RCV001724273 |
255 | R>* | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Leber congenital amaurosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001834125 RCV001240602 rs1582618974 |
264 | A>S | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207493 CA364645331 rs1453987164 RCV002504243 |
265 | Y>* | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3901017 RCV001069486 RCV001273008 rs368131181 |
276 | K>R | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000190663 CA204615 RCV001003073 RCV000812173 RCV001073263 RCV000001019 rs121918165 |
279 | Q>* | Leber congenital amaurosis 5 (lca5) Leber congenital amaurosis 5 Leber congenital amaurosis Inborn genetic diseases Retinal dystrophy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001834629 RCV000505126 RCV000504935 RCV000624398 CA141864468 rs866395428 RCV001382408 |
280 | R>* | Variant assessed as Somatic; impact. Leber congenital amaurosis 5 Leber congenital amaurosis Retinal dystrophy Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs542672738 RCV001237835 CA3901013 RCV001828892 COSM1446068 |
280 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Leber congenital amaurosis 5 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs139142572 CA3900984 RCV001160207 RCV001272075 RCV000878502 |
301 | R>H | Leber congenital amaurosis 5 Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001869350 RCV000987743 CA364644392 rs1178243254 |
319 | A>T | Leber congenital amaurosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3900958 RCV001047911 RCV001827303 rs771402955 |
339 | F>S | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001272074 CA3900957 RCV001041082 rs577692224 |
340 | K>R | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001861292 rs375310752 CA3900955 RCV000342862 |
350 | T>I | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001825941 RCV001347482 CA364643779 rs1161878963 |
352 | M>T | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1769845495 RCV001030781 RCV001858899 |
353 | C>* | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs899869772 RCV001835417 RCV001298376 CA141863219 |
362 | G>V | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200988021 RCV002524508 RCV001272073 RCV000393430 CA3900944 RCV000946289 |
366 | L>S | Leber congenital amaurosis 5 Leber congenital amaurosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000291399 rs201814494 CA3900905 RCV003168552 RCV001248352 |
380 | G>R | Leber congenital amaurosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000001017 rs386834252 RCV001271951 RCV001057042 |
384 | P>missing | Leber congenital amaurosis 5 Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835258 CA3900900 RCV001246082 rs372872674 |
386 | M>R | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA364642497 COSM196984 rs765473119 RCV001003072 |
391 | K>* | large_intestine Leber congenital amaurosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000383385 RCV002523577 rs369178808 CA3900893 |
394 | T>R | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001257111 rs1769761816 |
396 | E>* | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000330320 CA3900888 rs141821682 RCV001244762 |
401 | V>I | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA364641360 RCV000794733 RCV001592971 rs1268307330 |
415 | E>* | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001272072 rs777920075 CA3900856 RCV001055388 |
423 | E>Q | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3900836 rs149091694 RCV001835151 RCV001243042 |
456 | G>R | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1562093393 RCV001158869 CA364640979 RCV001372521 |
466 | M>R | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3900830 RCV001238931 rs145058393 RCV001836198 |
475 | D>G | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001075343 rs1769707298 RCV001862608 |
487 | P>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000001018 rs386834253 |
493 | P>missing | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1769706250 RCV001257112 |
496 | E>* | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3900821 RCV001836086 rs773531972 RCV001048182 RCV002552636 |
497 | S>P | Leber congenital amaurosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001830185 CA364640329 RCV001302217 rs1189990227 |
508 | T>I | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3900814 RCV001243325 rs570251479 RCV000317351 RCV002523576 |
511 | F>L | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 5 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001257113 rs1769703329 |
516 | E>missing | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001271949 CA3900809 rs140706052 RCV001055760 |
517 | R>I | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3900803 RCV001835303 RCV001247740 rs760574956 |
527 | I>M | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs75319738 CA3900805 RCV000878431 RCV001271948 |
527 | I>V | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376484071 CA3900799 RCV001832426 RCV001044854 |
534 | G>R | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs185347145 RCV000878192 RCV001158868 CA3900794 |
548 | P>S | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3900791 RCV001835607 rs547237643 RCV001320732 |
552 | A>T | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001053433 rs751306706 CA3900786 RCV001827337 |
557 | V>M | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA364639222 rs766143193 RCV000505038 |
559 | S>* | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001835197 RCV001244143 rs1674669719 |
576 | F>S | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772573829 CA3900780 RCV001234955 RCV001828868 |
586 | K>* | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771460783 RCV000357229 RCV001517466 CA3900777 |
590 | D>G | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1001422592 CA141860215 RCV001163777 RCV001295635 |
596 | T>I | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1769692830 RCV001073574 |
599 | E>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001280507 rs1769692203 |
602 | A>G | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3900767 RCV001047852 RCV001827302 rs778698913 |
609 | F>L | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3900763 rs143030450 RCV001272070 RCV000878692 |
615 | S>G | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3900758 RCV001058654 rs756929736 RCV001271947 |
621 | S>N | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001272069 RCV001051309 rs371962473 CA3900753 |
638 | N>D | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001830365 CA3900748 RCV001324902 rs369558299 |
651 | H>R | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001515546 RCV000987742 RCV000318671 CA180169 rs1875845 VAR_038992 RCV000153448 |
656 | G>D | Leber congenital amaurosis 1 Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001163775 rs1769683386 RCV001882524 |
657 | F>S | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371733166 CA364636818 RCV001000884 RCV001349643 |
669 | R>K | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3900739 RCV000265908 RCV001057224 rs371733166 |
669 | R>M | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001335589 RCV001272068 CA248276 RCV000180711 rs143582502 |
676 | D>Y | Leber congenital amaurosis 5 Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1769680029 RCV001163487 |
678 | K>T | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295355 CA3900733 RCV001830124 rs190470567 |
683 | A>P | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs186454340 RCV001068203 RCV001827447 CA3900725 |
695 | A>T | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA364636271 RCV001834121 rs758968702 RCV001240500 |
696 | L>P | Leber congenital amaurosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1331645027 RCV001306759 RCV001586119 |
1 | M>T | No |
ClinVar dbSNP |
|
|
rs1411425708 CA364632400 |
2 | G>E | No |
ClinGen gnomAD |
|
|
CA364632369 rs768115801 |
4 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA3901235 rs768115801 |
4 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1472592808 CA364632359 |
5 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1472592808 CA364632363 |
5 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
RCV001046621 CA3901232 rs137971422 |
9 | G>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745619400 CA3901231 |
10 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001060945 rs1248460033 |
11 | D>* | No |
ClinVar dbSNP |
|
|
rs778874743 CA3901230 |
12 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3901229 rs756348440 |
12 | Q>R | No |
ClinGen ExAC |
|
|
rs1288187353 CA364632206 |
14 | R>G | No |
ClinGen gnomAD |
|
|
CA141848088 rs17857377 |
15 | K>E | No |
ClinGen gnomAD |
|
|
rs755075050 CA3901226 |
15 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA364632175 rs17857377 |
15 | K>Q | No |
ClinGen gnomAD |
|
|
CA364632165 rs1285541732 |
15 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA364632060 rs1582645857 |
20 | H>L | No |
ClinGen Ensembl |
|
|
rs1562109293 CA364632063 |
20 | H>Y | No |
ClinGen Ensembl |
|
|
CA3901223 rs766751187 |
21 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs905145016 CA141848060 |
22 | S>Y | No |
ClinGen TOPMed |
|
|
CA364631976 CA364631982 rs2655655 |
24 | L>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364631973 rs1562109257 |
24 | L>F | No |
ClinGen Ensembl |
|
|
rs776203088 CA3901219 |
25 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1309468456 CA364631944 |
26 | D>E | No |
ClinGen TOPMed |
|
|
rs1353111994 CA364631897 |
28 | E>G | No |
ClinGen TOPMed |
|
|
rs538469651 COSM1446071 CA3901218 |
29 | T>M | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1389694470 CA364631837 |
29 | T>S | No |
ClinGen gnomAD |
|
|
CA141848034 rs972939285 |
30 | P>S | No |
ClinGen TOPMed |
|
|
rs1322890097 CA364631789 |
31 | Q>R | No |
ClinGen TOPMed |
|
|
CA364631766 rs1247587562 |
32 | S>C | No |
ClinGen TOPMed |
|
|
CA3901216 rs745815628 |
33 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774224275 CA3901214 |
34 | G>R | No |
ClinGen ExAC |
|
|
rs771337269 CA141847982 |
35 | R>P | No |
ClinGen gnomAD |
|
|
CA141847985 rs771337269 |
35 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374135825 CA3901211 |
37 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747007866 CA3901209 |
39 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1186996353 CA364631645 |
40 | S>G | No |
ClinGen TOPMed |
|
|
rs572731652 CA3901208 |
44 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3901207 rs758832613 |
45 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1582645618 CA364631557 |
45 | S>R | No |
ClinGen Ensembl |
|
|
rs765571375 CA3901205 |
46 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3901206 rs750992370 |
46 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA364631540 rs750992370 |
46 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3901204 rs369372674 |
47 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV001045145 rs1766524422 |
48 | R>* | No |
ClinVar dbSNP |
|
|
rs753497619 CA3901203 |
49 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753497619 CA141847946 |
49 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763614207 CA364631485 |
49 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3901202 rs763614207 |
49 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1766523611 RCV001070645 |
50 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 50 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3901200 rs774805860 |
50 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767141458 CA3901199 |
52 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3901197 rs774491493 |
55 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1191192462 CA364631393 |
55 | T>P | No |
ClinGen gnomAD |
|
|
rs1169878286 CA364631365 |
57 | D>H | No |
ClinGen TOPMed |
|
|
rs747256721 CA3901192 |
61 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747256721 CA364631293 |
61 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141847880 rs773144546 |
62 | H>D | No |
ClinGen gnomAD |
|
|
rs772195284 CA3901190 |
63 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3901191 rs780100041 |
63 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs762452189 CA141847866 |
63 | Q>R | No |
ClinGen TOPMed |
|
|
rs772812120 CA3901174 |
64 | A>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001313837 rs1766329719 |
65 | P>A | No |
ClinVar dbSNP |
|
| TCGA novel | 65 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302366476 CA364630090 |
65 | P>R | No |
ClinGen gnomAD |
|
|
rs35338066 CA3901172 |
66 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145854631 CA3901173 |
66 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3901170 rs772107300 |
68 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141844974 rs528984218 |
69 | S>C | No |
ClinGen Ensembl |
|
|
rs1212683941 CA364630009 |
70 | P>R | No |
ClinGen Ensembl |
|
|
CA364630011 rs1241416719 |
70 | P>S | No |
ClinGen TOPMed |
|
|
CA3901169 rs745908133 |
71 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3901168 rs778986027 |
72 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1161664693 CA364629960 |
73 | L>I | No |
ClinGen gnomAD |
|
|
rs771285861 CA3901167 |
73 | L>P | No |
ClinGen ExAC |
|
|
rs777996740 CA3901165 |
74 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879399238 CA364629871 |
77 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs879399238 CA141844944 |
77 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3901161 rs143229120 |
80 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3901160 rs751051900 |
81 | V>A | No |
ClinGen ExAC |
|
|
CA3901158 rs762792193 |
83 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs572580888 CA3901156 COSM317556 |
84 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs572580888 CA3901155 |
84 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs979564973 CA141844864 |
85 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA364629770 rs1385161968 |
86 | Q>R | No |
ClinGen gnomAD |
|
|
rs1268242839 CA364629741 |
88 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3901153 rs767686732 |
89 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3901152 rs759758461 |
92 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562106722 CA364629688 |
92 | P>T | No |
ClinGen Ensembl |
|
|
rs772331293 CA141844844 |
93 | L>F | No |
ClinGen TOPMed |
|
|
CA364629661 rs34531407 |
94 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364629629 rs1387796294 |
97 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3901148 rs201422027 |
97 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201422027 CA3901147 |
97 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1387796294 CA364629628 |
97 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3901145 rs781711243 COSM3745373 |
98 | D>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748471754 CA3901146 |
98 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA141844812 rs754624675 |
100 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3901144 rs754624675 |
100 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746720268 CA3901143 |
101 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423787614 COSM1081895 CA364629597 |
101 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs779428839 CA3901142 |
102 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3901140 rs750308308 |
103 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765173623 CA3901139 |
104 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981854431 CA141844773 |
107 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs970480063 CA141844767 |
108 | R>S | No |
ClinGen Ensembl |
|
|
CA364629469 rs377617325 |
112 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576105476 CA3901137 |
112 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364629467 rs1562106587 |
113 | N>H | No |
ClinGen Ensembl |
|
|
CA141844748 rs147685979 |
117 | N>S | No |
ClinGen ESP |
|
|
rs1426167875 CA364629378 |
119 | V>I | No |
ClinGen gnomAD |
|
|
CA141844745 rs372673582 |
122 | L>F | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs372673582 CA141844744 |
122 | L>I | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs1167440056 CA364629333 |
122 | L>P | No |
ClinGen gnomAD |
|
|
CA3901130 rs770291249 |
130 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA364629144 rs1490911703 |
135 | S>F | No |
ClinGen gnomAD |
|
|
rs1000855933 CA141844728 |
135 | S>T | No |
ClinGen Ensembl |
|
|
CA364629146 rs1490911703 |
135 | S>Y | No |
ClinGen gnomAD |
|
|
CA364629093 rs1253144964 |
138 | R>S | No |
ClinGen gnomAD |
|
|
CA364629059 rs1245766580 |
141 | Y>C | No |
ClinGen TOPMed |
|
|
CA141844716 rs923207890 |
141 | Y>H | No |
ClinGen TOPMed |
|
|
RCV001062717 rs1766316985 |
142 | R>K | No |
ClinVar dbSNP |
|
| TCGA novel | 144 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs998260146 CA141844696 |
146 | A>S | No |
ClinGen Ensembl |
|
|
rs1284362098 CA364628973 |
148 | N>S | No |
ClinGen gnomAD |
|
|
rs570777846 CA3901120 |
149 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420223907 CA364628938 |
150 | F>S | No |
ClinGen gnomAD |
|
|
rs1348991495 CA568599243 |
151 | E>* | No |
ClinGen gnomAD |
|
|
rs1410175993 CA364628908 |
152 | D>E | No |
ClinGen gnomAD |
|
|
CA3901119 rs763870959 |
152 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1081894 rs751706253 CA3901117 |
154 | E>K | Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA141844650 rs901281230 |
157 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766571597 CA364628794 |
161 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766571597 CA3901116 |
161 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750446765 CA3901114 |
162 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3901113 rs568193819 |
163 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA364628768 rs183669161 RCV001323351 |
164 | H>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3901111 rs183669161 |
164 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569666879 CA3901109 |
167 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3901108 rs775750594 |
169 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3901107 rs549772017 |
170 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374629518 RCV001319745 |
174 | R>G | No |
ClinVar dbSNP |
|
|
CA3901103 rs749191441 |
177 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 178 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364628679 rs1489564802 |
178 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs533411137 CA3901100 |
183 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM196989 CA3901101 rs756065864 |
183 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3901099 rs780850008 |
184 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3831105 CA3901097 rs750681198 |
186 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364628629 rs750681198 |
186 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364628600 rs1234767665 |
190 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364628584 rs1562106265 |
192 | T>A | No |
ClinGen Ensembl |
|
|
CA3901095 rs762035119 |
192 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364628581 rs762035119 |
192 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364628576 rs1243815319 |
193 | E>G | No |
ClinGen gnomAD |
|
|
CA141844547 rs929894357 |
197 | F>L | No |
ClinGen Ensembl |
|
|
rs775866690 CA3901092 |
199 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364628528 rs1343477048 |
200 | K>I | No |
ClinGen gnomAD |
|
|
rs1582640138 CA364628512 COSM1697568 |
202 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 205 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282122726 CA364628461 |
209 | I>M | No |
ClinGen gnomAD |
|
|
CA364628464 rs1352429287 |
209 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1224649252 CA364628466 |
209 | I>V | No |
ClinGen gnomAD |
|
|
rs370574280 CA3901087 |
212 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3901088 rs370574280 |
212 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748744808 CA3901086 |
212 | A>V | No |
ClinGen ExAC |
|
|
rs1338116159 CA364628434 |
214 | H>Y | No |
ClinGen gnomAD |
|
|
CA141844461 rs949134139 |
216 | P>S | No |
ClinGen Ensembl |
|
|
rs1318750068 CA364628399 |
218 | R>* | No |
ClinGen gnomAD |
|
|
CA364628396 rs1402281645 |
218 | R>Q | No |
ClinGen gnomAD |
|
|
CA141844416 rs990535898 |
219 | D>A | No |
ClinGen Ensembl |
|
|
rs754773609 CA3901081 |
220 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA364628350 rs1379000432 |
221 | L>F | No |
ClinGen TOPMed |
|
|
CA364628351 rs1310152971 |
221 | L>W | No |
ClinGen TOPMed |
|
|
rs527877430 CA3901078 |
223 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1185420800 COSM257274 CA364628313 |
223 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3901074 rs753211045 |
228 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3901072 rs562192079 |
231 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 233 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867285885 CA141844369 |
235 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 238 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112706780 CA3901038 |
243 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412575563 CA364645479 |
244 | K>I | No |
ClinGen TOPMed |
|
|
rs748135993 CA3901036 |
244 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs377582275 CA3901034 |
246 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364645446 rs1408197958 |
249 | S>T | No |
ClinGen gnomAD |
|
|
CA364645441 rs1368128273 |
250 | T>A | No |
ClinGen TOPMed |
|
|
CA364645437 rs1178557753 |
250 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV001041878 rs1769904231 |
251 | N>S | No |
ClinVar dbSNP |
|
|
rs1482014106 CA364645426 |
252 | S>G | No |
ClinGen gnomAD |
|
|
rs1342120418 RCV001343765 CA364645409 |
254 | Q>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV000153449 CA234219 rs727503995 |
255 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA364645382 rs1316579572 |
258 | L>P | No |
ClinGen gnomAD |
|
|
rs1308026016 CA364645378 |
259 | A>S | No |
ClinGen gnomAD |
|
|
rs1308026016 RCV001295191 |
259 | A>T | No |
ClinVar dbSNP |
|
|
rs1582619002 CA364645375 |
259 | A>V | No |
ClinGen Ensembl |
|
|
CA364645368 rs1225677257 |
260 | E>D | No |
ClinGen gnomAD |
|
|
rs1377143223 CA364645364 |
261 | R>T | No |
ClinGen gnomAD |
|
|
CA364645342 rs1582618974 |
264 | A>T | No |
ClinGen Ensembl |
|
|
CA3901026 rs760685605 |
266 | E>Q | No |
ClinGen ExAC |
|
|
rs771969969 CA3901024 |
267 | A>P | No |
ClinGen ExAC |
|
|
CA141864503 rs373251423 |
267 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs1450478621 CA364645317 |
268 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1317512790 CA364645307 |
269 | D>G | No |
ClinGen TOPMed |
|
|
CA3901022 rs139112599 |
271 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774231557 CA3901021 |
272 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769837986 CA3901020 |
272 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 274 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439528438 CA364645276 |
274 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3901018 rs781115543 |
275 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3901016 rs375707128 |
277 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3901015 rs780495083 |
277 | E>V | No |
ClinGen ExAC |
|
|
rs559705570 CA3901014 |
279 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 279 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372604394 CA3901012 |
282 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364645198 rs1168709581 |
286 | K>E | No |
ClinGen TOPMed |
|
|
rs748869847 CA3900992 |
287 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1582617934 CA364645174 |
288 | K>E | No |
ClinGen Ensembl |
|
|
rs1166737813 CA364645155 |
290 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA364645157 rs1166737813 |
290 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1769876019 RCV001238691 |
291 | E>* | No |
ClinVar dbSNP |
|
|
CA3900990 rs771203925 |
292 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364645114 rs1374671973 |
293 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752186384 CA3900988 |
297 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480009434 CA364645048 |
297 | I>R | No |
ClinGen gnomAD |
|
|
rs1173838525 CA364645058 |
297 | I>V | No |
ClinGen gnomAD |
|
|
CA141863899 rs934682734 |
298 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1081890 rs754950803 CA3900986 |
301 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs139142572 CA3900985 |
301 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762763284 CA3900983 |
303 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772915742 CA3900982 |
305 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139892282 CA3900981 RCV000878461 |
307 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3900980 rs139892282 |
307 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364644913 rs1284262154 |
308 | N>K | No |
ClinGen gnomAD |
|
|
rs775535256 CA3900979 |
310 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141863861 rs953858376 |
311 | K>E | No |
ClinGen Ensembl |
|
|
rs371160059 CA3900978 |
313 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364644833 rs1391512618 |
314 | A>T | No |
ClinGen gnomAD |
|
|
rs1469218183 CA364644804 |
316 | R>K | No |
ClinGen gnomAD |
|
| rs1429753961 | 318 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765076255 CA3900964 |
321 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775731347 CA3900962 |
323 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3900963 rs760882781 |
323 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA364644328 rs1444579890 |
324 | D>H | No |
ClinGen gnomAD |
|
|
CA364644299 rs1582616897 |
326 | A>P | No |
ClinGen Ensembl |
|
|
rs767564005 CA3900961 |
326 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364644256 rs1326379647 |
328 | L>P | No |
ClinGen TOPMed |
|
|
rs1260359201 RCV001224082 |
329 | C>G | No |
ClinVar dbSNP |
|
|
rs1260359201 CA364644247 |
329 | C>R | No |
ClinGen TOPMed |
|
|
rs1283987592 CA364644155 |
332 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA141863325 rs751045116 |
334 | Q>E | No |
ClinGen Ensembl |
|
|
rs774324348 CA3900959 |
335 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1352311774 CA364644047 |
338 | D>G | No |
ClinGen gnomAD |
|
|
CA364644030 rs771402955 |
339 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs786205653 RCV000171526 |
340 | K>missing | No |
ClinVar dbSNP |
|
|
rs1317130768 CA364643901 |
345 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 345 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428550172 CA364643886 |
346 | L>S | No |
ClinGen gnomAD |
|
|
CA364643834 rs1406266342 |
348 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA141863288 rs919787212 |
351 | I>V | No |
ClinGen TOPMed |
|
|
rs781037539 CA3900953 |
352 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3900954 rs371969825 |
352 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000373471 CA10605770 rs183261547 |
354 | Y>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM196988 rs534689871 CA3900951 |
355 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1162203253 CA364643741 |
356 | N>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 358 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001321861 rs1474681070 CA364643719 |
358 | W>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1029939788 CA141863243 |
358 | W>R | No |
ClinGen Ensembl |
|
|
CA364643655 rs1384073205 |
363 | H>Y | No |
ClinGen gnomAD |
|
|
rs1448393195 CA364643639 |
364 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374484347 CA3900948 |
364 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3900946 rs757095417 |
365 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200988021 CA3900945 |
366 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762427148 CA3900913 |
367 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3900912 rs777126326 |
367 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3900911 rs768972230 |
368 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA141861706 rs1026368631 |
370 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 373 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775055144 CA3900909 |
374 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA364642721 rs1320897847 |
374 | D>G | No |
ClinGen TOPMed |
|
|
CA364642708 rs1327131277 |
375 | R>S | No |
ClinGen TOPMed |
|
|
rs1204009631 CA364642625 |
381 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA364642601 rs749281365 |
383 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs749281365 CA3900904 |
383 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1024031935 CA141861643 |
384 | P>A | No |
ClinGen gnomAD |
|
|
rs138931832 CA141861641 |
385 | I>F | No |
ClinGen ESP ExAC |
|
|
rs138931832 CA3900903 |
385 | I>V | No |
ClinGen ESP ExAC |
|
|
CA3900899 rs758722537 |
386 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs747228221 CA3900901 |
386 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372872674 CA364642565 |
386 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747228221 CA3900902 |
386 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001039970 rs1769762719 |
391 | K>missing | No |
ClinVar dbSNP |
|
|
CA3900897 rs765473119 |
391 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs531694921 CA3900896 |
391 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754346404 CA3900895 |
392 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA141861603 rs765632299 |
392 | F>S | No |
ClinGen Ensembl |
|
|
CA3900894 rs764498040 |
393 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA364642442 rs1418089523 |
395 | D>G | No |
ClinGen gnomAD |
|
|
CA364642439 rs1418089523 |
395 | D>V | No |
ClinGen gnomAD |
|
|
rs767009576 CA3900891 |
397 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442728348 CA364642382 |
399 | H>R | No |
ClinGen gnomAD |
|
|
CA141861538 rs1001489506 |
399 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 400 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3900889 rs141821682 |
401 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3900887 rs138303904 |
402 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562094321 CA364642340 |
403 | Q>* | No |
ClinGen Ensembl |
|
|
CA141861507 rs945420562 |
404 | E>K | No |
ClinGen Ensembl |
|
|
rs183336567 CA3900886 |
405 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1286853288 CA364642259 |
410 | D>N | No |
ClinGen gnomAD |
|
|
rs761872177 CA3900862 |
412 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3900861 rs776288750 |
414 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768615190 CA3900860 |
417 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746069358 CA3900859 |
419 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779228519 CA3900858 |
419 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA364641297 rs141642284 |
420 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364641300 rs1227338161 |
420 | K>R | No |
ClinGen gnomAD |
|
|
CA364641294 rs1280431297 |
421 | Q>* | No |
ClinGen gnomAD |
|
|
rs1221313005 CA364641291 |
421 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777920075 CA3900855 |
423 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1769715546 RCV001046144 |
424 | K>N | No |
ClinVar dbSNP |
|
|
rs756564264 CA3900854 |
424 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3900852 rs150095877 |
425 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150095877 CA3900853 |
425 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3900851 rs150095877 |
425 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751940141 CA3900850 |
425 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765972838 CA3900849 |
426 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1425512535 CA364641258 |
427 | L>V | No |
ClinGen gnomAD |
|
|
rs762669053 CA3900848 |
428 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762669053 CA364641249 |
428 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141860782 rs763745187 |
431 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1199814924 CA364641177 |
438 | T>S | No |
ClinGen gnomAD |
|
|
rs1435049670 CA364641170 |
439 | G>E | No |
ClinGen gnomAD |
|
|
CA364641165 rs1248493517 |
440 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA141860741 rs566723830 |
441 | Y>C | No |
ClinGen Ensembl |
|
|
CA364641143 rs1458556094 |
443 | L>R | No |
ClinGen gnomAD |
|
|
CA3900845 rs761629465 |
444 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA364641129 CA3900843 rs768737538 |
445 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3900844 rs776762166 |
445 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA364641131 rs776762166 |
445 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs760507515 CA3900842 |
446 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775432127 CA3900841 |
447 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771221739 CA3900840 |
448 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749579983 CA3900839 |
450 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 451 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs895724212 CA141860711 |
451 | M>V | No |
ClinGen Ensembl |
|
|
rs777709646 CA3900838 |
452 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs769955953 CA3900837 |
455 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs755507213 CA3900834 |
470 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751852107 CA3900833 |
472 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3900832 rs550772415 |
473 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757985550 CA3900831 |
475 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1261456833 CA364640847 |
478 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1440875846 CA364640843 |
478 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA364640841 rs1440875846 |
478 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1240630480 CA364640830 |
479 | Q>R | No |
ClinGen gnomAD |
|
|
rs1394376638 CA364640798 |
481 | S>F | No |
ClinGen TOPMed |
|
|
COSM1081888 CA364640795 rs1182277140 RCV000998655 |
482 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1319010087 COSM1081887 CA364640791 |
482 | R>Q | NS endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3900828 rs756746577 |
483 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs753430630 CA3900827 |
484 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001061177 rs1769707423 |
486 | Y>* | No |
ClinVar dbSNP |
|
|
rs760704047 CA3900825 |
486 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1240302846 RCV001071598 |
489 | L>missing | No |
ClinVar dbSNP |
|
|
CA3900824 rs139048294 |
490 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs767411685 CA3900823 |
494 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3900822 rs763054638 |
495 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3900820 rs769927589 |
499 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1420452543 CA364640501 |
500 | H>R | No |
ClinGen gnomAD |
|
|
rs1382229693 CA364640473 |
501 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364640466 rs1162235936 |
502 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17857375 CA141860478 |
502 | P>R | No |
ClinGen Ensembl |
|
|
CA364640448 rs776693525 |
503 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139856050 CA141860450 |
505 | S>I | No |
ClinGen ESP TOPMed |
|
|
CA141860447 rs547492668 |
506 | P>R | No |
ClinGen Ensembl |
|
|
rs747584043 CA3900816 |
509 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747584043 CA364640313 |
509 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780368619 CA3900815 |
510 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3900813 rs150542974 |
512 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364640215 rs1356917267 |
513 | E>D | No |
ClinGen gnomAD |
|
|
CA3900811 rs756865925 |
513 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs113907906 CA364640142 |
517 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 517 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3900807 rs756115302 |
519 | F>L | No |
ClinGen ExAC |
|
|
CA364639938 rs75319738 |
527 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765430446 CA3900802 |
528 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532500940 CA3900801 |
532 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3900800 rs776677108 |
533 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141860379 rs988291414 |
533 | K>N | No |
ClinGen Ensembl |
|
|
CA364639822 rs1394586743 |
534 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1193954926 CA364639808 |
535 | E>K | No |
ClinGen gnomAD |
|
|
CA3900798 rs776020018 |
537 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3900796 rs772491115 |
541 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746177204 CA3900795 COSM1081886 |
544 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364639575 rs1291994479 |
545 | P>S | No |
ClinGen gnomAD |
|
|
CA141860354 rs35415141 VAR_038991 |
546 | A>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA364639535 rs1212719379 |
547 | S>F | No |
ClinGen gnomAD |
|
|
CA364639532 rs1212719379 |
547 | S>Y | No |
ClinGen gnomAD |
|
|
rs1278526420 CA364639496 |
549 | N>I | No |
ClinGen gnomAD |
|
|
rs756922411 CA3900793 |
550 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372632148 CA364639416 |
551 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364639409 rs547237643 |
552 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3900790 rs547237643 |
552 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781140519 CA3900788 |
556 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs766143193 COSM1081885 CA3900785 |
559 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754112188 CA3900783 |
560 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1426832623 CA364639171 |
561 | A>G | No |
ClinGen gnomAD |
|
|
CA364639179 rs1182228360 |
561 | A>P | No |
ClinGen TOPMed |
|
|
CA364639127 rs1234451596 |
564 | S>L | No |
ClinGen TOPMed |
|
|
rs1190244709 CA364639083 |
566 | R>K | No |
ClinGen gnomAD |
|
|
CA364639073 rs1582610261 |
566 | R>S | No |
ClinGen Ensembl |
|
|
rs112421113 CA141860280 |
568 | N>K | No |
ClinGen Ensembl |
|
|
rs1474018276 CA364639030 |
569 | P>S | No |
ClinGen TOPMed |
|
| rs34176430 | 574 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 576 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000180712 rs764325386 CA248278 |
576 | F>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 577 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 577 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364638820 rs1582610219 |
578 | D>G | No |
ClinGen Ensembl |
|
|
CA364638722 rs1247886099 |
582 | N>I | No |
ClinGen gnomAD |
|
|
rs138594057 CA3900781 |
583 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA141860257 rs138594057 |
583 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200356946 CA364638702 |
584 | M>V | No |
ClinGen gnomAD |
|
|
rs772573829 CA364638659 |
586 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760021399 CA3900779 |
588 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771460783 CA364638567 |
590 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774776470 CA3900778 |
590 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748925713 CA364638557 |
591 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs748925713 CA3900776 |
591 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3900775 rs777518555 |
592 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3900771 rs754926913 |
597 | R>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001313467 rs754926913 CA3900772 |
597 | R>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA3900770 rs751515581 |
598 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA364638345 rs1426699257 |
600 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 602 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241585396 CA364638231 |
605 | M>I | No |
ClinGen gnomAD |
|
|
rs1238755929 CA364638237 |
605 | M>K | No |
ClinGen gnomAD |
|
|
rs904450678 CA141860200 |
607 | Q>H | No |
ClinGen Ensembl |
|
|
rs1255137950 CA364637991 |
612 | S>G | No |
ClinGen gnomAD |
|
|
CA3900765 rs764235088 |
612 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs764235088 CA3900766 |
612 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA364637904 rs1280856800 |
614 | S>R | No |
ClinGen gnomAD |
|
|
rs752812734 CA3900762 |
615 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs200972929 CA3900761 |
616 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774766999 CA364637825 |
618 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760059455 CA3900760 |
618 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3900759 rs774766999 RCV001327041 |
618 | S>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA364637802 rs1360585621 |
619 | S>F | No |
ClinGen gnomAD |
|
|
rs1448327270 CA364637814 |
619 | S>P | No |
ClinGen gnomAD |
|
|
CA364637725 rs1484580531 |
623 | D>E | No |
ClinGen TOPMed |
|
|
rs17857376 CA141860161 |
623 | D>G | No |
ClinGen Ensembl |
|
|
rs763366506 CA3900757 |
625 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1320311861 CA364637670 |
626 | S>Y | No |
ClinGen Ensembl |
|
|
rs1769688198 RCV001070175 |
628 | A>S | No |
ClinVar dbSNP |
|
|
rs891533988 CA141860148 |
632 | G>E | No |
ClinGen Ensembl |
|
|
rs867514179 CA141860151 |
632 | G>R | No |
ClinGen gnomAD |
|
|
rs1255255899 CA364637574 |
633 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 634 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484100842 CA364637511 |
635 | D>E | No |
ClinGen gnomAD |
|
|
rs747812671 CA3900754 |
637 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3900751 rs746553171 CA364637456 |
638 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3900752 rs768101755 |
638 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA364637437 rs1357858104 |
639 | F>S | No |
ClinGen gnomAD |
|
|
CA364637390 rs1582609741 |
641 | P>R | No |
ClinGen Ensembl |
|
|
CA364637371 COSM743047 rs1246123213 |
642 | G>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 642 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912026122 CA141860100 |
643 | N>H | No |
ClinGen TOPMed |
|
|
rs779926817 CA3900750 |
644 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA364637262 rs1381789658 |
648 | D>V | No |
ClinGen gnomAD |
|
|
rs1582609697 CA364637232 |
650 | E>K | No |
ClinGen Ensembl |
|
|
COSM325666 rs778742366 CA3900747 |
652 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA364637148 rs1299454357 |
654 | D>N | No |
ClinGen gnomAD |
|
|
CA364637127 rs1312692453 |
655 | E>* | No |
ClinGen TOPMed |
|
|
CA141860080 rs932225432 |
655 | E>A | No |
ClinGen Ensembl |
|
|
rs756357391 CA3900746 |
655 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 656 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1875845 CA364637096 |
656 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1398065217 CA364637089 |
657 | F>I | No |
ClinGen TOPMed |
|
|
rs1398065217 CA364637093 |
657 | F>V | No |
ClinGen TOPMed |
|
|
rs1325935305 CA364637023 |
659 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 659 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375203094 CA3900743 |
660 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375203094 CA364637006 |
660 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs111400036 COSM223112 CA141860036 |
662 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3900741 rs552712900 |
664 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3900740 rs763567483 |
664 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1345695986 CA364636859 |
666 | N>K | No |
ClinGen TOPMed |
|
|
rs1265437122 CA364636795 |
670 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1487527511 CA364636804 |
670 | H>Y | No |
ClinGen gnomAD |
|
|
RCV001203496 rs765762174 CA141860018 RCV002282480 |
671 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs765762174 CA3900738 |
671 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761494084 CA3900737 |
671 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV001046797 rs1769680919 |
674 | H>missing | No |
ClinVar dbSNP |
|
|
rs1460245309 CA364636757 |
674 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3900735 rs367583144 |
677 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA141860007 rs367583144 |
677 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3900732 rs745875716 |
684 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778650730 CA3900731 |
686 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3900729 rs749127744 |
689 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA141859982 rs749127744 |
689 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364636479 rs1262456673 |
689 | D>N | No |
ClinGen Ensembl |
|
|
rs1562092375 CA364636355 |
693 | E>K | No |
ClinGen Ensembl |
|
|
CA364636324 rs1196108636 |
694 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3900723 rs758968702 |
696 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1769676773 RCV001313801 |
697 | R>S | No |
ClinVar dbSNP |
1 associated diseases with Q86VQ0
[MIM: 604537]: Leber congenital amaurosis 5 (LCA5)
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:17546029, ECO:0000269|PubMed:18000884, ECO:0000269|PubMed:18334959, ECO:0000269|PubMed:28418496}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:17546029, ECO:0000269|PubMed:18000884, ECO:0000269|PubMed:18334959, ECO:0000269|PubMed:28418496}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q86VQ0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Lebercilin domain | 100 - 292 | IPR028933 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| photoreceptor connecting cilium | The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein-containing complex binding | Binding to a macromolecular complex. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| intraciliary transport | The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. |
| photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGERAGSPGT | DQERKAGKHH | YSYLSDFETP | QSSGRSSLVS | SSPASVRRKN | PKRQTSDGQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HHQAPRKPSP | KGLPNRKGVR | VGFRSQSLNR | EPLRKDTDLV | TKRILSARLL | KINELQNEVS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELQVKLAELL | KENKSLKRLQ | YRQEKALNKF | EDAENEISQL | IFRHNNEITA | LKERLRKSQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KERATEKRVK | DTESELFRTK | FSLQKLKEIS | EARHLPERDD | LAKKLVSAEL | KLDDTERRIK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELSKNLELST | NSFQRQLLAE | RKRAYEAHDE | NKVLQKEVQR | LYHKLKEKER | ELDIKNIYSN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLPKSSPNKE | KELALRKNAA | CQSDFADLCT | KGVQTMEDFK | PEEYPLTPET | IMCYENKWEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PGHLTLDLQS | QKQDRHGEAG | ILNPIMEREE | KFVTDEELHV | VKQEVEKLED | EWEREELDKK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QKEKASLLER | EEKPEWETGR | YQLGMYPIQN | MDKLQGEEEE | RLKREMLLAK | LNEIDRELQD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SRNLKYPVLP | LLPDFESKLH | SPERSPKTYR | FSESSERLFN | GHHLQDISFS | TPKGEGQNSG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NVRSPASPNE | FAFGSYVPSF | AKTSERSNPF | SQKSSFLDFQ | RNSMEKLSKD | GVDLITRKEK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KANLMEQLFG | ASGSSTISSK | SSDPNSVASS | KGDIDPLNFL | PGNKGSRDQE | HDEDEGFFLS |
| 670 | 680 | 690 | |||
| EGRSFNPNRH | RLKHADDKPA | VKAADSVEDE | IEEVALR |