Q8N157
PR
Gene name |
AHI1 |
Protein name |
Jouberin |
Names |
CD85 antigen-like family member H, Immunoglobulin-like transcript 1, ILT-1, Leukocyte immunoglobulin-like receptor 7, LIR-7, Abelson helper integration site 1 protein homolog, AHI-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54806 |
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
2 structures for Q8N157
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4ESR | X-ray | 153 A | A/B | 1048-1116 | PDB |
| AF-Q8N157-F1 | Predicted | AlphaFoldDB |
1127 variants for Q8N157
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1380181596 CA365741516 RCV001309954 |
3 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1380181596 RCV001232972 |
3 | T>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365741303 RCV002558318 rs766052712 RCV001151774 RCV002559462 |
15 | R>C | Joubert syndrome Joubert syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001312365 RCV000523862 CA4012970 rs760220297 |
15 | R>H | Variant assessed as Somatic; 0.0 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs760220297 CA4012969 RCV001302183 |
15 | R>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002483666 RCV001221324 RCV000598669 rs780910490 |
24 | S>missing | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210085 rs778792339 RCV002503996 CA4012961 RCV000725652 |
25 | D>G | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000367907 CA4012962 RCV000998690 RCV001225876 rs201590073 |
25 | D>N | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001512946 CA4012958 rs199612496 RCV001151773 COSM3858487 COSM3858486 |
28 | R>C | thyroid Joubert syndrome Joubert syndrome 3 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs36115433 CA4012956 RCV000522733 RCV002476066 RCV002528251 |
28 | R>H | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009216 RCV000778779 rs747322175 |
33 | L>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000778778 rs1562294047 |
36 | K>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043599 rs1210811690 CA365753758 |
46 | P>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs971565169 CA148150180 RCV001207641 RCV002480679 |
55 | Y>C | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001539714 RCV001206211 CA4012903 rs762906949 |
57 | K>R | Variant assessed as Somatic; 0.0 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000862170 rs115502075 RCV000246786 CA4012902 |
60 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002476595 RCV001346866 CA4012879 rs574938408 |
64 | P>H | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001038507 CA4012876 rs369012543 |
67 | I>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003139738 RCV000518979 rs370059449 RCV001295361 CA4012871 |
74 | I>N | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4012869 rs558131794 RCV001345326 |
77 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1790752699 RCV001346770 |
80 | D>G | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070554 CA4012866 rs538208208 |
81 | D>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA365752240 rs1445914255 RCV001316817 |
84 | A>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001330967 RCV002546429 rs140836078 CA4012843 |
121 | K>R | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs756217962 RCV001324809 CA4012839 |
132 | T>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368077581 CA4012837 RCV000527501 RCV001151771 RCV000427341 |
134 | P>S | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001230846 rs368077581 |
134 | P>T | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043898 CA365751721 rs1397997127 |
139 | Q>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM3941521 COSM3941522 rs192524061 RCV001066257 CA365751692 RCV002067723 RCV002482100 |
143 | P>L | Variant assessed as Somatic; 0.0 impact. oesophagus Joubert syndrome Joubert syndrome 3 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs192524061 CA4012832 RCV000863935 |
143 | P>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1790713679 RCV001252127 |
147 | E>K | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1790707920 RCV001338250 |
155 | Q>E | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1270654737 RCV001204778 CA365751567 RCV002491618 |
162 | Q>* | Joubert syndrome (jbts) Joubert syndrome Joubert syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001239615 CA4012824 rs770822998 RCV002491786 |
162 | Q>P | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000418241 CA4012820 rs755936005 RCV001865374 |
165 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000168166 CA248771 RCV000152762 rs146416468 RCV001157235 RCV001711311 |
173 | A>T | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1790693034 RCV001301174 |
174 | N>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002497379 CA365751458 RCV001044263 rs1245690441 |
178 | E>K | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs775089247 RCV001060180 |
188 | L>M | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000262501 CA4012798 RCV001850883 rs781286716 |
204 | I>M | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002222540 RCV001088814 CA4012791 RCV000514800 rs183936286 RCV001157234 |
218 | Y>C | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001242953 rs758481039 CA4012792 |
218 | Y>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201668 rs863225138 CA279475 RCV002469064 |
221 | S>* | Joubert syndrome and related disorders Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4012786 rs767206985 RCV001339548 |
224 | L>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001074546 RCV001051209 rs1336317768 |
235 | R>missing | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000246201 rs143522987 CA4012775 RCV001157232 RCV000443752 RCV001079300 |
242 | P>S | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201760 CA279546 RCV002287391 rs863225142 |
246 | K>* | Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4012747 RCV001546265 rs190854744 RCV001045973 |
276 | S>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000636938 rs1554214237 |
279 | D>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002484239 RCV001227185 CA4012741 rs200389118 |
285 | M>V | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309838 rs763856608 CA4012739 |
290 | E>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4012733 RCV001066808 rs771092146 |
294 | Q>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324085 rs1790189960 |
297 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001055461 RCV000201689 RCV002469063 RCV001226946 RCV002288819 rs753874898 |
304 | T>missing | Joubert syndrome and related disorders Joubert syndrome 3 Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222704 rs1417477245 |
304 | T>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048876 rs1789198105 |
314 | N>H | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001298215 RCV002504444 rs1789192683 |
324 | H>R | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000255060 RCV001074225 RCV000023739 rs201391050 CA259900 RCV001172379 RCV001390240 |
329 | R>* | Joubert syndrome (jbts) Joubert syndrome with ocular defect Variant assessed as Somatic; 0.0 impact. Joubert syndrome Joubert syndrome 3 Retinal dystrophy Joubert syndrome 3 (jbts3) [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000357466 rs139944375 RCV001095106 CA4012693 RCV000313832 |
329 | R>L | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001157230 rs200201741 RCV000199507 RCV001576697 RCV000346238 CA338680 RCV002517286 |
330 | D>G | Joubert syndrome Joubert syndrome 3 Inborn genetic diseases Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001063689 RCV001074632 CA4012684 rs201790260 RCV002511028 RCV002553946 |
338 | L>W | Joubert syndrome Inborn genetic diseases Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001206260 rs200927282 RCV002517761 RCV000250813 RCV000724880 RCV001155546 CA247748 |
345 | L>M | Joubert syndrome Joubert syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121434348 CA252041 RCV001058641 RCV000002087 |
351 | R>* | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_071194 RCV000054427 rs397514726 CA264217 |
351 | R>L | Joubert syndrome 3 Joubert syndrome 3 (jbts3) JBTS3; loss of localization at cilium basal body and cell-cell junctions [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001234210 RCV000851324 rs397514726 CA4012679 |
351 | R>Q | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002539473 rs1789169805 RCV001301530 |
369 | H>D | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225133 RCV000201728 CA279507 |
372 | D>G | Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250414 rs1789162289 |
383 | D>G | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371243793 RCV000724597 CA248175 RCV001226983 |
386 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1788860785 RCV001296406 |
399 | Y>C | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs794729195 RCV000184013 RCV000987790 RCV001852379 |
402 | P>missing | Joubert syndrome 1 Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001155545 RCV001844270 rs1264460804 CA365746592 |
412 | Q>R | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001853230 RCV000201621 rs863225143 CA279421 |
420 | W>* | Joubert syndrome (jbts) Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001376375 RCV001074545 rs777668842 RCV000206729 RCV000482493 CA339611 RCV000201715 RCV001328119 |
423 | Q>* | Joubert syndrome (jbts) Nephronophthisis Joubert syndrome Joubert syndrome 3 Retinal dystrophy Joubert syndrome 3 (jbts3) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1788846426 RCV001252132 |
424 | I>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752889085 RCV001303353 CA4012630 |
424 | I>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771603649 RCV001073851 RCV002281158 CA4012626 RCV001216660 |
434 | L>P | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121434349 CA252043 RCV000002088 COSM3829118 COSM3829117 |
435 | R>* | Variant assessed as Somatic; 0.0 impact. Joubert syndrome 3 breast Joubert syndrome 3 (jbts3) [NCI-TCGA, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4012624 RCV000862128 RCV001155544 RCV002225753 rs545841352 |
435 | R>Q | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs748438350 RCV001069242 |
438 | D>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175179 rs1788834778 |
443 | V>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_023391 CA249938 RCV000162132 rs121434350 RCV000002089 |
443 | V>D | Global developmental delay Joubert syndrome 3 Joubert syndrome 3 (jbts3) JBTS3; alters interaction with HAP1 and NPHP1; loss of NPHP1AHI1(2):NPHP1(2) tetramers; loss of localization at cilium basal body and cell-cell junctions; loss of positive modulation of classical Wnt signaling; decreased interaction with CTNNB1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1788833484 RCV001172383 |
444 | I>missing | Joubert syndrome with ocular defect [ClinVar] | Yes |
ClinVar dbSNP |
|
CA148141576 RCV001298056 rs577887220 |
444 | I>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs777952691 CA4012615 RCV001319963 RCV002476496 |
448 | E>K | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000557938 rs1554208431 |
452 | F>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4012603 rs775076049 RCV001247208 |
455 | V>M | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs539194432 CA4012600 RCV001064377 |
469 | C>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4012599 rs770605375 RCV001238586 RCV000767140 RCV002524145 RCV000499488 |
472 | R>Q | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA148139961 RCV001209162 rs969178984 |
472 | R>W | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000523071 RCV002490908 CA4012589 RCV001058674 rs375425462 |
485 | N>S | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA148136846 RCV001862819 rs891261493 RCV001074158 |
495 | R>C | Joubert syndrome (jbts) Joubert syndrome Retinal dystrophy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA259902 RCV000023740 rs387907003 RCV002513203 |
495 | R>H | Joubert syndrome Joubert syndrome 3 Variant assessed as Somatic; impact. Joubert syndrome 3 (jbts3) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA148136800 RCV000636937 rs905262279 |
499 | Y>* | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA148136784 rs946149286 RCV001242741 RCV001760272 |
503 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000702666 rs371637724 CA277801 RCV000201739 |
506 | R>* | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001309002 CA4012576 rs371637724 |
506 | R>G | Joubert syndrome Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1787565839 RCV001233906 |
512 | V>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4012567 rs751011125 RCV001233116 |
520 | K>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001237731 rs761804458 CA4012562 RCV001155542 |
532 | V>I | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs863225141 RCV000201702 |
539 | V>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1787553194 RCV001172380 |
541 | D>G | Joubert syndrome with ocular defect [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1787553528 RCV001336381 |
541 | D>Y | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051404 rs553366477 RCV002497403 CA4012550 |
548 | R>C | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Joubert syndrome 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000206565 RCV001154713 RCV001080011 VAR_037893 CA151696 RCV000116285 rs35433555 |
548 | R>H | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000546325 rs1554350503 |
560 | P>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1787365319 RCV001075546 RCV001862851 |
560 | P>A | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763970632 CA4012543 RCV002291608 RCV002487083 RCV000232238 |
565 | R>C | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4012542 RCV001586010 RCV001321179 rs372894716 RCV001154712 |
565 | R>H | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1787347907 RCV001172381 |
586 | K>* | Joubert syndrome with ocular defect [ClinVar] | Yes |
ClinVar dbSNP |
|
CA252046 rs267606641 RCV001376341 RCV000522479 VAR_080417 RCV000002091 RCV001380010 |
589 | R>missing | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Joubert syndrome 3 JBTS3 Joubert syndrome 3 (jbts3) [NCI-TCGA, ClinVar, UniProt, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_080417 rs267606641 |
589 | R>del | JBTS3 [UniProt] | Yes |
UniProt dbSNP |
|
rs1583276758 CA365744706 RCV000987789 |
593 | Q>H | Joubert syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs375309864 RCV001338627 CA4012507 |
596 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001352495 rs1429959840 CA365744660 |
599 | N>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001862852 rs781198326 RCV001075547 |
604 | S>* | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751734985 RCV001264829 CA4012501 RCV002541620 |
610 | R>* | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002282416 RCV001869351 RCV002471002 rs374009466 CA4012500 RCV000987788 |
610 | R>P | Joubert syndrome 1 Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4012499 rs374009466 RCV001529063 RCV000868689 |
610 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002497471 RCV001067720 rs1163874095 |
614 | C>missing | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000599258 rs797045223 CA277278 RCV000194226 RCV000820311 |
621 | G>* | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039034 rs1786487832 RCV002283518 |
630 | S>missing | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002486192 RCV001306125 CA4012487 rs748010693 |
631 | R>W | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000201727 rs863225132 |
634 | Y>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4012484 RCV001341702 rs371531507 RCV000291112 |
635 | P>L | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4012483 rs780336496 RCV000401027 |
637 | I>M | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764412921 RCV000201738 CA277799 |
639 | Y>* | Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4012472 rs772513002 RCV001345821 |
645 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001853231 RCV000201711 CA277783 rs541041911 |
659 | D>V | Joubert syndrome (jbts) Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321027 rs1323210459 |
659 | D>Y | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201632 CA279428 rs863225147 RCV000414742 RCV001051208 |
666 | D>V | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002039782 CA4012465 rs780154667 RCV002482444 |
671 | T>A | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_076820 rs772989270 RCV001731519 RCV000201635 CA277741 |
671 | T>I | Joubert syndrome 3 Joubert syndrome 3 (jbts3) JBTS3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs863225145 RCV000201721 CA279503 |
675 | D>N | Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758363344 CA4012464 RCV001346945 |
677 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001308289 rs1784911034 |
695 | P>L | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000504798 rs797045224 CA277462 RCV000195247 |
696 | H>R | Retinitis pigmentosa Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225136 RCV001064024 RCV000480601 RCV000201656 |
701 | Y>missing | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002298739 rs756276537 CA4012440 RCV000688299 |
702 | T>M | Joubert syndrome and related disorders Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001340270 rs1305959685 RCV001075099 |
711 | E>missing | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA279368 RCV000201556 RCV000497534 VAR_076821 rs863225134 |
719 | D>G | Joubert syndrome 3 Joubert syndrome 3 (jbts3) JBTS3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001582460 VAR_037894 CA252048 rs121434351 RCV000463110 RCV001172382 RCV000002092 |
723 | R>Q | Joubert syndrome (jbts) Joubert syndrome with ocular defect Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) JBTS3; loss of localization at the primary cilium; loss of positive modulation of classical Wnt signaling; no effect on interaction with CTNNB1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs755407014 RCV000201778 |
725 | W>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144464 RCV001262092 RCV000678521 rs587783013 RCV001698972 CA270780 |
725 | W>* | Retinitis pigmentosa Joubert syndrome 3 Leber congenital amaurosis Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000201537 rs863225144 RCV000817125 CA279352 |
725 | W>R | Joubert syndrome (jbts) Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000201613 rs863225140 |
729 | M>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002476583 rs375643798 CA4012425 RCV001342758 |
735 | I>V | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001340443 rs1227775795 |
737 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277726 RCV001002863 RCV000201604 rs372659908 RCV000255574 RCV001387494 |
738 | R>* | Joubert syndrome (jbts) Retinitis pigmentosa Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369869567 RCV001151671 RCV001208710 CA4012422 |
741 | D>G | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4012420 RCV002489566 rs373014753 RCV001040154 RCV002551462 |
744 | K>R | Joubert syndrome Joubert syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1784889346 RCV001233907 |
747 | I>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766069291 RCV002537719 CA148122329 RCV001328118 |
749 | S>* | Nephronophthisis Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001056556 rs1445681647 RCV001799727 RCV002479345 |
750 | L>missing | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002554701 rs1784887448 RCV001074157 |
751 | C>missing | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562758269 RCV000678522 CA365743365 |
753 | D>V | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376754552 CA4012414 RCV001252131 RCV002570490 |
756 | G>C | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA365743336 RCV000785932 rs372012542 |
756 | G>V | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053820 CA240759 VAR_037895 rs794727174 RCV000175088 RCV000185588 |
761 | S>L | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1348260638 CA365743294 RCV002504313 RCV001231574 |
762 | G>E | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200017073 RCV000366873 RCV002502139 RCV001049633 CA4012402 |
765 | T>I | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA279563 rs863225139 RCV000201786 |
766 | G>E | Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4012400 RCV000735302 RCV000249307 rs755688765 RCV001034978 |
767 | V>L | Global developmental delay Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1784617227 RCV001211945 |
772 | N>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1583199685 CA365743187 RCV000792980 |
779 | D>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886061110 CA10621506 RCV000294785 |
786 | H>R | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001330966 rs863225146 |
787 | W>* | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA279355 RCV000201540 rs863225146 |
787 | W>C | Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302861 rs1583199499 |
788 | T>P | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000002093 rs387906270 |
790 | N>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001157120 rs958113326 CA148119917 |
805 | Y>C | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000504989 rs1554338016 CA365742781 |
810 | P>L | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA148119841 rs371891688 RCV001297582 |
818 | H>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1784406093 RCV001075578 RCV002497491 RCV002554762 |
828 | D>A | Joubert syndrome Joubert syndrome 3 Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002480747 RCV002563112 CA4012370 RCV001227322 rs775785006 |
830 | R>Q | Joubert syndrome Joubert syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000116287 VAR_037896 CA151702 rs13312995 RCV001095102 RCV000386088 RCV000987787 |
830 | R>W | Joubert syndrome 1 Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003114363 CA279357 rs863225131 RCV000201542 |
832 | L>* | Joubert syndrome and related disorders Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4012353 rs529407899 RCV001206732 RCV002471043 |
834 | A>V | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV001322298 CA4012352 RCV001773645 RCV002493684 rs767879919 |
835 | R>K | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001304501 rs773787232 CA4012347 |
844 | R>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001306007 RCV002255179 rs779509262 CA4012344 COSM25173 RCV002543146 |
850 | T>A | kidney Joubert syndrome large_intestine Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857784 CA352244 RCV002500832 rs745507530 |
854 | C>F | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_037897 RCV001157116 RCV001206691 CA4012340 rs199736888 |
856 | T>S | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs773278338 RCV000504625 CA4012339 |
857 | F>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA365742185 RCV001004929 rs1583187059 |
858 | L>P | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1380121460 CA365742168 RCV001157115 |
860 | A>S | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587783014 RCV000144465 |
866 | I>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316391 rs1784232614 |
875 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200355875 CA4012303 RCV001300964 RCV001155438 RCV001572774 |
887 | K>R | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA365741327 RCV001254914 RCV001075354 rs1355690902 RCV001064140 |
891 | R>* | Joubert syndrome (jbts) Joubert syndrome Joubert syndrome 3 Retinal dystrophy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001091216 VAR_076822 RCV001240194 RCV000201566 CA279374 rs863225135 |
896 | H>R | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) JBTS3; loss of localization at the primary cilium; loss of positive modulation of classical Wnt signaling; no effect on interaction with CTNNB1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA277806 RCV000201756 rs368788993 |
902 | V>D | Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001074633 CA4012295 rs199879855 RCV001083343 RCV000427065 |
905 | C>S | Joubert syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA365741075 RCV000819349 rs1583179946 |
908 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1583179812 RCV000790397 |
915 | L>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1583179845 RCV000987785 RCV002549687 |
915 | L>missing | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367875262 RCV001342069 CA4012285 RCV002476580 |
921 | H>Y | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1220794157 CA365846249 RCV001203523 |
923 | A>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000263339 rs538724792 RCV002058557 RCV001821082 CA4012263 |
928 | E>D | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs370101143 RCV001357865 RCV001348147 CA4012262 |
932 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs41288013 RCV001080789 RCV000176102 VAR_037898 RCV000513130 CA201799 RCV001155437 |
933 | Y>C | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002524707 RCV000549669 rs142704960 RCV000429829 CA4012255 |
944 | Q>R | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA365846064 rs1562703260 RCV001041692 |
951 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4012249 RCV002493753 RCV001342169 rs201771478 |
958 | Q>R | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA365845954 RCV001315353 rs1253336600 |
968 | H>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002541941 rs760411761 RCV001301089 CA4012243 |
969 | T>S | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1781571282 RCV001226107 |
974 | T>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553110 RCV001044262 CA4012239 rs774471595 |
974 | T>A | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770006937 RCV001247284 |
976 | M>L | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000863175 CA4012231 rs370400336 RCV001154605 |
982 | R>M | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4012204 rs755780260 RCV001154603 |
991 | R>C | Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000081798 RCV000835354 rs35851478 RCV001088337 RCV001154602 CA148799 |
991 | R>H | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000504884 RCV000384106 rs755246809 RCV001075290 RCV001449700 RCV001855064 RCV000851312 |
997 | V>missing | Retinitis pigmentosa Joubert syndrome Joubert syndrome 3 Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777215595 RCV000762434 RCV001002862 RCV001785719 CA4012186 RCV001237047 RCV001073854 |
1011 | S>* | Joubert syndrome (jbts) Retinitis pigmentosa Joubert syndrome Joubert syndrome 3 Retinal dystrophy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1779002936 RCV001345928 |
1017 | K>E | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000116290 RCV000224001 rs6940875 CA151709 RCV000361451 VAR_037899 RCV001094963 |
1018 | Q>P | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313159 rs370340493 CA4012181 |
1023 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs868723363 RCV001301917 CA365843647 |
1025 | Q>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001342065 CA148541754 rs1054804025 |
1026 | E>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1261277645 CA365840766 RCV002484136 RCV001209634 |
1053 | A>T | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201691998 RCV000422296 CA16605457 RCV002481325 RCV001861613 |
1054 | P>A | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs73559947 CA201933 RCV001151591 RCV000860892 RCV001252128 RCV000176416 RCV001707549 |
1055 | T>M | Intellectual disability Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047025 RCV001376231 CA4012074 RCV000987784 RCV001075600 RCV003114537 rs780163791 RCV000424420 |
1066 | R>* | Joubert syndrome (jbts) Variant assessed as Somatic; 0.0 impact. Joubert syndrome 1 Joubert syndrome Retinal dystrophy [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4012075 rs780163791 RCV001047273 |
1066 | R>G | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001042047 CA4012073 rs544992761 |
1066 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000800062 rs367640472 RCV002507385 RCV002537117 CA4012070 |
1069 | E>G | Joubert syndrome Joubert syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001151590 RCV001226984 rs750115460 CA242469 RCV000724596 COSM170947 |
1075 | G>R | Variant assessed as Somatic; 0.0 impact. Joubert syndrome large_intestine Joubert syndrome 3 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001040763 rs1787150198 |
1079 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4012060 RCV001243883 rs763991049 |
1082 | F>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148000791 RCV000249126 RCV000132677 RCV000198715 VAR_068171 RCV000304449 CA232849 |
1086 | E>G | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs387906269 RCV000002090 |
1088 | W>missing | Joubert syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750829579 RCV001308828 CA4012056 |
1091 | G>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs375028507 CA4012055 RCV001037053 |
1092 | S>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1207608724 CA365845485 RCV001346486 |
1099 | G>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002557269 rs1380307778 CA365845349 RCV001151588 |
1110 | T>A | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001075548 RCV001227900 rs1487081231 CA365844346 |
1122 | R>* | Joubert syndrome (jbts) Variant assessed as Somatic; 0.0 impact. Joubert syndrome Retinal dystrophy [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA4012031 RCV002032449 rs372888581 RCV001157002 |
1122 | R>Q | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_037900 RCV000081799 RCV000677336 rs117447608 RCV001082992 RCV000444551 CA148802 |
1123 | S>F | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002504542 RCV001345618 rs1020870112 CA148533168 |
1125 | P>S | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1279871862 RCV001235662 CA365844196 |
1134 | I>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA335852 VAR_037901 RCV000195696 RCV001596984 RCV001157001 rs201148693 RCV000248598 RCV001252130 |
1140 | P>S | Intellectual disability Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766168872 RCV002493631 CA4012001 RCV001312762 |
1145 | I>V | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4011995 rs200250333 RCV002505633 RCV001062557 |
1160 | M>V | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1232167375 RCV001295910 CA365840976 |
1164 | E>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001252129 rs199578341 CA4011964 RCV000701724 RCV000764640 RCV000445026 |
1168 | E>G | Intellectual disability Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001157000 RCV000608290 rs188583221 RCV000861193 CA4011960 |
1179 | D>Y | Joubert syndrome Joubert syndrome 3 Joubert syndrome 3 (jbts3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200368187 CA4011958 RCV000310232 RCV001309958 RCV002523549 |
1181 | R>Q | Joubert syndrome Joubert syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000326368 RCV001550739 CA4011957 rs184236039 RCV000534468 |
1182 | M>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001325359 rs1782196497 |
1193 | T>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776098993 CA4011951 RCV001044384 RCV002481912 RCV001788407 |
1195 | I>V | Joubert syndrome Joubert syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754235345 CA4012975 |
4 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1335313019 CA365741429 |
5 | E>D | No |
ClinGen TOPMed |
|
|
CA365741409 rs1288229688 |
7 | E>K | No |
ClinGen gnomAD |
|
|
CA4012973 rs761288707 |
12 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 12 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4012974 rs761288707 |
12 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4012972 rs763715513 |
13 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370064805 CA148124570 |
14 | V>D | No |
ClinGen Ensembl |
|
|
rs766052712 CA4012971 |
15 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA365741274 rs769488791 |
17 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4012968 COSM3941523 COSM3941524 rs769488791 |
17 | E>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776505818 CA4012966 |
18 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4012967 rs372112184 |
18 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1205131431 CA365741225 |
20 | L>P | No |
ClinGen gnomAD |
|
|
CA4012964 rs746992537 |
23 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012963 rs28395415 |
24 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247185586 CA365741139 |
26 | L>I | No |
ClinGen gnomAD |
|
|
CA4012960 rs757532459 |
26 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1398133985 CA365741105 |
27 | M>I | No |
ClinGen gnomAD |
|
|
rs1294576615 CA365741120 |
27 | M>V | No |
ClinGen gnomAD |
|
|
rs36115433 CA4012957 |
28 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012959 rs199612496 |
28 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768151581 CA4012954 |
31 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166732075 CA365740981 |
33 | L>R | No |
ClinGen TOPMed |
|
| rs747322175 | 33 | L>T | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365740962 rs1350937784 |
34 | K>R | No |
ClinGen Ensembl |
|
|
CA365740948 rs1458095772 |
35 | K>E | No |
ClinGen gnomAD |
|
|
CA365740868 rs1361550727 |
38 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4012949 rs749976878 |
39 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs764600553 CA365740858 |
39 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012948 rs764600553 |
39 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761573884 CA4012947 |
40 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs367736269 CA4012946 |
43 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755787297 CA4012909 |
46 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752326707 CA4012908 |
47 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_037892 | 49 | I>N | No | UniProt | |
|
rs533707253 CA4012907 |
49 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1269257434 CA365753663 |
50 | R>K | No |
ClinGen gnomAD |
|
|
rs759236704 CA4012906 |
51 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1313943389 CA365753618 |
52 | N>D | No |
ClinGen gnomAD |
|
|
rs1377525129 CA365753604 |
52 | N>K | No |
ClinGen gnomAD |
|
|
rs751308774 CA4012905 |
52 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4012904 rs766231229 |
53 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1562244264 CA365753543 |
55 | Y>H | No |
ClinGen Ensembl |
|
|
CA365753541 rs971565169 |
55 | Y>S | No |
ClinGen Ensembl |
|
|
CA365753506 rs1296849014 |
56 | M>I | No |
ClinGen gnomAD |
|
|
CA365753520 rs1340420754 |
56 | M>T | No |
ClinGen gnomAD |
|
|
rs1212967974 CA365753526 |
56 | M>V | No |
ClinGen TOPMed |
|
|
rs1164346355 CA365753442 |
59 | T>P | No |
ClinGen gnomAD |
|
|
rs1182209789 CA365753362 |
61 | S>R | No |
ClinGen gnomAD |
|
|
CA148150175 rs1005394156 |
61 | S>R | No |
ClinGen Ensembl |
|
|
CA365753326 rs1477477005 |
62 | D>G | No |
ClinGen gnomAD |
|
|
CA365753323 rs1477477005 |
62 | D>V | No |
ClinGen gnomAD |
|
|
rs764230638 CA4012877 |
65 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148149399 rs1001283344 |
65 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA365752355 rs1397919913 |
67 | I>T | No |
ClinGen gnomAD |
|
|
CA365752349 rs1562241449 |
68 | R>T | No |
ClinGen Ensembl |
|
|
rs775740410 CA4012875 |
69 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA4012874 rs772461770 |
70 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs746416481 CA4012873 |
70 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA365752322 rs1583376265 |
72 | P>R | No |
ClinGen Ensembl |
|
|
rs1173813597 CA365752326 |
72 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4012872 rs774837419 |
73 | H>R | No |
ClinGen ExAC |
|
|
rs1425174262 CA365752312 |
74 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4012870 rs747661291 |
75 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA148149363 rs949821858 |
76 | E>Q | No |
ClinGen Ensembl |
|
|
rs1200875878 CA365752289 |
77 | T>I | No |
ClinGen gnomAD |
|
|
CA4012868 rs754609881 |
78 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438398673 CA365752283 |
79 | S>G | No |
ClinGen TOPMed |
|
|
CA365752245 rs1279549685 |
84 | A>T | No |
ClinGen TOPMed |
|
|
CA365752196 rs1374914353 |
89 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3777131 CA4012862 COSM3777132 rs757196052 |
91 | K>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754003413 CA4012860 |
93 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs373490556 CA4012857 |
94 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365752134 rs529877776 |
95 | R>G | No |
ClinGen TOPMed |
|
|
rs1359290584 CA365752129 |
95 | R>K | No |
ClinGen gnomAD |
|
|
rs1157502623 CA365752099 |
98 | K>E | No |
ClinGen gnomAD |
|
|
rs775754081 CA4012855 |
100 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381810348 CA365752034 |
103 | N>T | No |
ClinGen gnomAD |
|
|
rs767839775 CA4012854 |
104 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1420063740 CA365752019 |
104 | T>I | No |
ClinGen gnomAD |
|
|
CA365752022 rs1420063740 |
104 | T>K | No |
ClinGen gnomAD |
|
|
CA4012852 rs774628957 |
105 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365752015 rs774628957 |
105 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365752011 rs771455350 |
105 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012851 rs771455350 |
105 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365751964 rs1351541879 |
109 | E>V | No |
ClinGen gnomAD |
|
|
rs776053386 CA4012849 |
111 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1339721327 CA365751926 |
112 | N>I | No |
ClinGen gnomAD |
|
|
rs779741616 CA4012846 |
115 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4012845 rs758068897 |
116 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4012844 rs745664509 |
119 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs536880751 CA4012842 |
122 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365751830 rs1389420672 |
122 | Q>R | No |
ClinGen Ensembl |
|
|
CA365751809 rs1477562833 |
125 | P>L | No |
ClinGen TOPMed |
|
|
rs1457084807 CA365751805 |
126 | N>D | No |
ClinGen gnomAD |
|
|
rs1188713462 CA365751799 |
126 | N>K | No |
ClinGen TOPMed |
|
|
rs1368304692 CA365751802 |
126 | N>S | No |
ClinGen gnomAD |
|
|
CA148149217 rs912049113 |
127 | K>E | No |
ClinGen gnomAD |
|
|
rs753808518 CA4012841 |
127 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA148149204 CA148149207 rs376751417 |
130 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371999812 CA4012840 |
130 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376751417 CA365751778 |
130 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365751747 rs1355877244 |
135 | Q>P | No |
ClinGen gnomAD |
|
|
rs766703420 CA365751728 |
138 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012833 rs763491102 |
138 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766703420 CA4012834 |
138 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057457565 CA148149159 |
145 | T>A | No |
ClinGen TOPMed |
|
|
rs1385914176 CA365751673 |
146 | P>L | No |
ClinGen gnomAD |
|
|
rs938786973 CA148149141 |
150 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365751646 rs1418948476 |
150 | V>I | No |
ClinGen gnomAD |
|
|
rs1219216271 CA365751638 |
151 | D>V | No |
ClinGen TOPMed |
|
|
CA4012829 rs760243511 |
152 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551136002 CA4012828 COSM1073632 |
152 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs771883828 CA4012827 |
153 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1211798694 CA365751614 |
155 | Q>R | No |
ClinGen gnomAD |
|
|
rs1175504033 CA365751602 |
157 | T>A | No |
ClinGen gnomAD |
|
|
rs1468753761 CA365751595 |
158 | H>N | No |
ClinGen gnomAD |
|
|
CA365751580 rs1257185309 |
160 | K>* | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA4012825 rs778901365 |
160 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562240075 CA365751571 |
161 | P>Q | No |
ClinGen Ensembl |
|
|
CA365751561 rs1328788959 |
163 | P>A | No |
ClinGen gnomAD |
|
|
COSM1073630 rs749254267 CA365751553 |
164 | G>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749254267 CA4012823 |
164 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4012819 rs752849891 |
165 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562239848 CA365751543 |
166 | D>G | No |
ClinGen Ensembl |
|
|
CA365751547 rs1562239891 |
166 | D>N | No |
ClinGen Ensembl |
|
|
CA4012816 rs781080794 |
167 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs781080794 CA365751535 |
167 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1426451248 CA365751519 |
169 | K>R | No |
ClinGen gnomAD |
|
|
CA365751489 rs1418959456 |
173 | A>E | No |
ClinGen TOPMed |
|
|
rs1375935414 CA365751485 |
174 | N>D | No |
ClinGen gnomAD |
|
|
CA4012814 rs751749918 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1415010857 CA365751471 |
176 | G>R | No |
ClinGen Ensembl |
|
|
rs1454863145 CA365751461 |
177 | R>I | No |
ClinGen gnomAD |
|
|
rs766795439 CA4012812 |
181 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1196560196 CA365751425 |
181 | D>N | No |
ClinGen gnomAD |
|
|
CA4012810 rs750693496 |
184 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA148149049 rs1032930574 |
185 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1375659573 CA365751335 |
186 | E>* | No |
ClinGen gnomAD |
|
|
rs1375659573 CA365751340 |
186 | E>K | No |
ClinGen gnomAD |
|
|
rs1445381420 CA365751279 |
188 | L>W | No |
ClinGen TOPMed |
|
|
rs1356585492 CA365751259 |
189 | M>I | No |
ClinGen gnomAD |
|
|
rs770911013 CA4012803 |
192 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4012804 rs374604980 |
192 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365751224 rs374604980 |
192 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4012802 rs186783702 |
193 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4012801 rs560424370 |
194 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA148149012 rs1024535791 |
200 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 206 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365751029 rs1233236182 |
206 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs951101606 CA148148989 |
206 | R>S | No |
ClinGen TOPMed |
|
|
CA365750982 rs1186817196 |
208 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4012796 rs751836111 |
208 | I>T | No |
ClinGen ExAC |
|
|
CA148148987 rs1025347616 |
209 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 214 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014017991 CA148148962 |
214 | E>K | No |
ClinGen Ensembl |
|
|
rs1440601840 CA365750920 |
215 | Q>* | No |
ClinGen gnomAD |
|
|
rs780266557 CA4012793 |
215 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1275469965 CA365750888 |
219 | F>L | No |
ClinGen gnomAD |
|
|
rs863225138 CA365750863 |
221 | S>L | Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs777878487 CA148148938 |
222 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757832908 CA4012789 |
223 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA365750838 rs757832908 |
223 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10605697 RCV000289746 rs886043592 |
227 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA365750732 rs1157152481 |
230 | L>I | No |
ClinGen gnomAD |
|
|
CA365750726 rs1402649029 |
230 | L>Q | No |
ClinGen gnomAD |
|
|
CA365750719 rs1408497148 |
231 | S>N | No |
ClinGen gnomAD |
|
|
rs1162405257 CA365750714 CA365750712 |
231 | S>R | No |
ClinGen gnomAD |
|
|
CA365750701 rs1471667222 |
232 | S>N | No |
ClinGen gnomAD |
|
|
rs1239160257 CA365750695 |
232 | S>R | No |
ClinGen gnomAD |
|
|
rs1188499124 CA365750693 |
233 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365750676 rs1383878166 |
234 | K>E | No |
ClinGen gnomAD |
|
|
rs1562238669 CA365750654 |
235 | R>K | No |
ClinGen Ensembl |
|
|
CA148148895 rs1017983212 |
236 | K>T | No |
ClinGen TOPMed |
|
|
CA4012780 rs748182443 |
238 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012779 rs748182443 |
238 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776535970 CA4012778 |
239 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA365750472 rs1277170931 |
242 | P>L | No |
ClinGen TOPMed |
|
|
CA365750463 rs1218779535 |
243 | V>A | No |
ClinGen TOPMed |
|
|
CA365750470 rs1343456087 |
243 | V>I | No |
ClinGen TOPMed |
|
|
rs1349568364 CA365750432 |
245 | S>A | No |
ClinGen Ensembl |
|
|
rs863225142 CA365750419 |
246 | K>E | Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen gnomAD |
|
CA365749632 rs1179755660 |
250 | S>R | No |
ClinGen gnomAD |
|
|
COSM1440638 CA4012760 rs772731992 |
251 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs966319786 CA148147325 |
253 | T>A | No |
ClinGen gnomAD |
|
|
CA365749571 rs1172373604 |
253 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1423849092 CA365749552 |
254 | I>T | No |
ClinGen gnomAD |
|
|
CA365749562 rs1428597060 |
254 | I>V | No |
ClinGen gnomAD |
|
|
rs1189153455 CA365749460 |
258 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4012758 rs761525653 |
260 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365749386 rs1214737082 |
262 | E>K | No |
ClinGen gnomAD |
|
|
rs35139847 CA4012757 |
263 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148147324 rs1030797057 |
264 | K>R | No |
ClinGen TOPMed |
|
| rs754871738 | 265 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365749284 rs1207163251 |
267 | S>C | No |
ClinGen gnomAD |
|
|
rs1205629091 CA365749293 |
267 | S>T | No |
ClinGen gnomAD |
|
|
rs768609618 CA4012755 |
268 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4012753 rs772013900 |
269 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365749247 rs1373431146 |
270 | R>T | No |
ClinGen gnomAD |
|
|
CA4012751 rs778992650 |
271 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs746168950 CA4012752 |
271 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1360264225 CA365749232 |
272 | V>I | No |
ClinGen gnomAD |
|
|
rs749677725 CA4012749 |
274 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs778231180 CA4012748 |
275 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778231180 CA365749190 |
275 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014630053 CA148147285 |
277 | H>Y | No |
ClinGen TOPMed |
|
|
CA4012745 rs779678242 |
278 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365749159 rs1395333837 |
279 | D>E | No |
ClinGen gnomAD |
|
|
CA4012744 rs757832593 |
280 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439479391 CA365749148 |
281 | E>* | No |
ClinGen gnomAD |
|
|
rs1248859192 CA365749141 |
282 | I>V | No |
ClinGen gnomAD |
|
|
rs749890939 CA4012743 |
283 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA365749123 rs1481234264 |
284 | S>L | No |
ClinGen gnomAD |
|
|
rs753657510 CA4012740 |
285 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA365749112 rs1338393341 |
286 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs894830970 CA148147170 |
286 | E>Q | No |
ClinGen Ensembl |
|
|
CA148147163 rs1056506340 |
288 | S>N | No |
ClinGen gnomAD |
|
|
rs760645720 CA4012738 |
291 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775402342 CA4012737 |
292 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774425581 CA4012734 |
293 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759553258 CA4012735 |
293 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012736 rs772255541 |
293 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4012731 rs377628990 |
295 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365749049 rs1368691324 |
295 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 295 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368691324 CA365749048 |
295 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 296 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4012730 rs770273511 |
299 | P>S | No |
ClinGen ExAC |
|
|
CA4012728 rs781562359 |
300 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4012727 rs755446019 |
301 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1161695026 CA365749011 |
301 | P>T | No |
ClinGen gnomAD |
|
|
rs749930727 CA4012726 |
304 | T>A | No |
ClinGen ExAC gnomAD |
|
| rs753874898 | 304 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202061323 COSM1440635 CA4012723 |
304 | T>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| rs753874898 | 304 | T>N | Variant assessed as Somatic; 0.0002682 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753874898 | 304 | T>Q | Variant assessed as Somatic; 0.0001609 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554214090 CA4012720 |
308 | T>S | No |
ClinGen Ensembl |
|
|
CA365748046 rs1271026280 |
312 | A>T | No |
ClinGen gnomAD |
|
|
CA365748044 rs1562220013 |
312 | A>V | No |
ClinGen Ensembl |
|
|
rs1235114926 CA365748034 |
313 | D>E | No |
ClinGen gnomAD |
|
|
rs777012318 CA4012703 |
314 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769064296 CA4012701 |
317 | D>V | No |
ClinGen ExAC |
|
|
CA4012700 rs747530127 |
319 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs375293141 CA4012699 |
320 | G>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1382955866 CA365747977 |
322 | G>S | No |
ClinGen TOPMed |
|
|
CA365747945 rs1385862872 |
326 | I>T | No |
ClinGen gnomAD |
|
|
rs777420094 CA4012695 RCV000766367 RCV000502871 |
328 | S>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA4012694 rs139944375 |
329 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM594549 rs767297135 CA4012692 |
330 | D>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA365747918 rs567183382 |
331 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567183382 CA4012689 |
331 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773359044 CA4012687 |
332 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773359044 CA4012688 |
332 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365747896 rs1490641975 |
335 | P>T | No |
ClinGen gnomAD |
|
|
CA365747871 rs201790260 |
338 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769035209 CA4012683 |
339 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs368748793 CA148143170 |
340 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365747862 rs368748793 |
340 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200927282 CA365747828 |
345 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA148143147 rs574422340 |
349 | I>T | No |
ClinGen Ensembl |
|
|
rs748804342 CA4012680 |
349 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367946911 CA365747793 |
350 | H>R | No |
ClinGen TOPMed |
|
|
CA365747748 RCV000760628 rs1562219266 |
357 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755789261 CA4012678 |
358 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA365747746 rs1160678624 |
358 | D>Y | No |
ClinGen TOPMed |
|
|
rs977492020 CA148143120 |
360 | M>I | No |
ClinGen TOPMed |
|
|
CA4012677 rs747817815 |
360 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4012676 rs754784786 |
362 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754784786 CA4012675 |
362 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 365 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379754722 CA365747696 |
365 | M>K | No |
ClinGen TOPMed |
|
|
rs888935350 CA148143091 |
365 | M>V | No |
ClinGen TOPMed |
|
|
rs1168541792 CA365747684 |
367 | K>E | No |
ClinGen gnomAD |
|
|
CA148143084 rs1050149892 |
368 | I>M | No |
ClinGen Ensembl |
|
|
rs766423667 CA4012673 |
369 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4012670 rs145996720 |
374 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761983153 CA4012669 |
374 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
rs750550820 CA4012671 |
374 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365747591 rs1237326631 |
375 | T>N | No |
ClinGen gnomAD |
|
|
rs901522761 CA148143072 |
376 | G>S | No |
ClinGen Ensembl |
|
|
rs1273579828 CA365747540 |
379 | V>I | No |
ClinGen gnomAD |
|
|
rs1284894062 CA365747524 |
380 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs775768164 CA4012665 |
381 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4012666 rs775768164 |
381 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772602858 CA4012664 |
383 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs183862577 CA4012645 |
386 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761388040 CA4012642 |
389 | S>* | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA4012643 rs771280049 |
389 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs774793682 CA4012641 |
391 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561883150 CA4012639 |
392 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1217411934 CA365746739 |
392 | Y>H | No |
ClinGen gnomAD |
|
|
rs1277529107 CA365746727 |
393 | E>D | No |
ClinGen TOPMed |
|
|
CA148141743 rs961321214 |
393 | E>G | No |
ClinGen gnomAD |
|
|
rs1213661969 CA365746718 |
395 | E>K | No |
ClinGen gnomAD |
|
|
CA365746702 rs1333376430 |
397 | V>M | No |
ClinGen gnomAD |
|
|
CA365746677 rs1295599195 |
400 | I>T | No |
ClinGen gnomAD |
|
|
rs1233990487 CA365746671 |
401 | L>F | No |
ClinGen gnomAD |
|
|
RCV000443953 CA16605460 rs1057524842 |
402 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA365746661 rs1361274909 |
403 | I>V | No |
ClinGen gnomAD |
|
|
rs1268706810 CA365746654 |
404 | M>V | No |
ClinGen gnomAD |
|
|
CA365746644 rs1433134337 |
405 | T>P | No |
ClinGen gnomAD |
|
|
rs1349933967 CA365746629 |
407 | P>R | No |
ClinGen TOPMed |
|
|
CA4012638 rs780035166 |
407 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4012636 rs745858851 |
408 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs772289223 RCV000727920 |
413 | L>missing | No |
ClinVar dbSNP |
|
|
rs1396631386 CA365746582 |
413 | L>F | No |
ClinGen gnomAD |
|
|
rs1554209758 RCV000627552 |
414 | K>missing | No |
ClinVar dbSNP |
|
|
rs1320723051 CA365746577 |
414 | K>R | No |
ClinGen TOPMed |
|
|
rs1427415878 CA365746567 |
416 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4012633 rs576077363 |
416 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4012632 rs753985715 |
419 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA365746539 rs1238362592 |
420 | W>* | No |
ClinGen TOPMed |
|
|
CA365746517 rs777668842 |
423 | Q>E | Joubert syndrome (jbts) Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1562214357 CA365746515 |
423 | Q>R | No |
ClinGen Ensembl |
|
|
rs562905902 CA4012631 |
424 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767924100 CA4012629 |
427 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751852341 CA4012627 |
431 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365746459 rs1270940407 |
431 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA148141664 rs761203456 |
434 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs771603649 CA148141641 |
434 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545841352 CA365746436 |
435 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760470566 CA4012623 |
436 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA148141614 rs372919026 |
437 | S>F | No |
ClinGen ESP TOPMed |
|
|
rs1171941077 CA365746416 |
439 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4012621 rs775268892 |
440 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA365746393 rs1562214003 |
442 | K>T | No |
ClinGen Ensembl |
|
|
CA365746383 rs577887220 |
444 | I>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs745664569 CA4012619 |
444 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA365746368 rs770926761 COSM1073627 |
446 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4012618 rs773978949 |
446 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749161280 CA4012616 |
447 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA365746336 rs1406446272 |
449 | I>N | No |
ClinGen gnomAD |
|
|
CA148140005 rs987470300 |
450 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 451 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365746313 rs1179399628 |
452 | F>L | No |
ClinGen gnomAD |
|
|
rs1045860223 CA148140001 |
453 | L>I | No |
ClinGen Ensembl |
|
|
CA365746301 rs1407804546 |
454 | S>N | No |
ClinGen gnomAD |
|
|
rs868032910 CA365746292 |
456 | D>N | No |
ClinGen gnomAD |
|
|
CA148139980 rs868032910 |
456 | D>Y | No |
ClinGen gnomAD |
|
|
CA4012602 rs767310988 |
460 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1562208433 CA365746254 |
461 | N>D | No |
ClinGen Ensembl |
|
|
rs1256758399 CA365746240 |
463 | E>Q | No |
ClinGen gnomAD |
|
|
CA365746230 rs1562208391 |
464 | V>A | No |
ClinGen Ensembl |
|
|
rs1224257244 CA365746193 |
469 | C>F | No |
ClinGen gnomAD |
|
|
CA365746181 rs1390553203 |
471 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 474 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365746155 rs1416049863 |
475 | A>P | No |
ClinGen gnomAD |
|
|
rs1453507631 CA365746145 |
476 | W>L | No |
ClinGen gnomAD |
|
|
CA365746150 rs1287870890 |
476 | W>R | No |
ClinGen gnomAD |
|
|
rs1343800504 CA365746131 |
477 | A>V | No |
ClinGen gnomAD |
|
|
CA148139928 rs865950295 |
480 | K>N | No |
ClinGen Ensembl |
|
|
rs369709436 CA148139937 |
480 | K>Q | No |
ClinGen ESP TOPMed |
|
|
CA365745692 rs1382017435 |
483 | G>A | No |
ClinGen TOPMed |
|
|
rs1458049086 CA365745685 |
484 | A>G | No |
ClinGen gnomAD |
|
|
CA4012585 rs368396043 |
490 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365745627 rs1316545198 |
490 | I>V | No |
ClinGen TOPMed |
|
|
CA4012584 rs759305192 |
494 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4012581 rs762657263 |
498 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA365745514 rs1181701161 |
499 | Y>H | No |
ClinGen TOPMed |
|
|
CA4012578 rs761714289 |
502 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA365745454 rs1297797828 |
503 | T>I | No |
ClinGen gnomAD |
|
|
CA365745450 rs1436283073 |
504 | K>E | No |
ClinGen gnomAD |
|
|
CA365745444 rs1370711318 |
504 | K>R | No |
ClinGen gnomAD |
|
|
rs1443719410 CA365745433 |
505 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1443719410 CA365745431 |
505 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199524949 CA4012575 |
506 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772269905 CA365745411 |
507 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4012574 rs772269905 |
507 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4012572 rs41288021 |
509 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4012571 rs757891165 |
511 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs754436452 CA4012568 |
518 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA365745250 rs1449170741 |
519 | S>A | No |
ClinGen TOPMed |
|
|
CA148136706 rs926574181 |
521 | C>F | No |
ClinGen TOPMed |
|
|
CA365745229 rs1340772745 |
521 | C>S | No |
ClinGen gnomAD |
|
|
CA365745182 rs1384617783 |
524 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365745160 rs1233089714 |
525 | H>Q | No |
ClinGen gnomAD |
|
|
CA4012565 rs762615689 |
526 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs750264231 CA4012564 |
527 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365745135 rs1201471547 |
530 | L>M | No |
ClinGen TOPMed |
|
|
rs1200026660 CA365745108 |
534 | V>E | No |
ClinGen TOPMed |
|
|
CA4012561 rs776536021 |
535 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 536 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365745096 rs1389750653 |
536 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs369367336 CA148136670 |
536 | G>R | No |
ClinGen Ensembl |
|
|
CA4012560 rs768523364 |
542 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022203167 CA148132357 |
544 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365745027 rs1221306293 |
545 | P>S | No |
ClinGen gnomAD |
|
|
CA148132350 rs553366477 |
548 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1168107548 CA365745002 |
549 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1352460063 CA365744991 |
551 | M>V | No |
ClinGen gnomAD |
|
|
CA148132326 rs933648254 |
554 | Q>* | No |
ClinGen Ensembl |
|
|
CA4012549 rs779590057 |
557 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758024476 CA4012548 |
557 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365744933 rs1414890881 |
559 | K>E | No |
ClinGen gnomAD |
|
|
CA365744922 rs1383950113 |
560 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs372894716 CA365744888 |
565 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569064380 CA148132269 |
567 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA148132285 rs569064380 |
567 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569064380 CA4012541 |
567 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1210383567 CA365744870 |
568 | E>G | No |
ClinGen gnomAD |
|
|
CA4012540 rs767605883 |
571 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1401140658 CA365744843 |
572 | V>A | No |
ClinGen TOPMed |
|
|
CA365744836 rs1203940444 |
573 | D>V | No |
ClinGen gnomAD |
|
|
rs1296736475 CA365744832 |
574 | T>A | No |
ClinGen TOPMed |
|
|
rs1353634812 CA365744815 |
576 | P>L | No |
ClinGen gnomAD |
|
|
rs774706065 CA4012538 |
576 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012537 rs771223938 |
577 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs749698150 CA4012536 |
580 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283650584 CA365744783 |
581 | S>* | No |
ClinGen TOPMed |
|
|
rs773659623 CA4012535 |
582 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 582 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4012534 rs770249849 |
583 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365744760 rs1221638765 |
585 | I>V | No |
ClinGen TOPMed |
|
|
rs748654591 CA4012533 |
586 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1562791173 CA917867555 |
587 | W>* | No |
ClinGen Ensembl |
|
|
CA4012531 rs780072636 |
587 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4012530 rs757910826 |
589 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771894461 CA148132194 |
590 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs771894461 CA4012528 |
590 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4012527 rs778540427 |
591 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1205989030 CA365744716 |
592 | G>A | No |
ClinGen TOPMed |
|
|
CA365744718 rs756862771 |
592 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4012526 rs756862771 |
592 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA365744711 rs1480087006 |
593 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 594 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148129337 rs957781455 |
595 | C>Y | No |
ClinGen Ensembl |
|
|
CA4012506 rs373384543 |
596 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1025626043 CA148129307 |
598 | P>L | No |
ClinGen Ensembl |
|
|
rs1004389821 CA148129305 |
599 | N>D | No |
ClinGen Ensembl |
|
|
rs375537062 CA365744642 CA4012504 RCV000514537 COSM594552 |
601 | H>Q | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD ClinVar dbSNP |
|
rs1191552885 CA365744644 |
601 | H>R | No |
ClinGen TOPMed |
|
|
CA4012503 rs781198326 |
604 | S>L | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA365744607 rs1192276301 |
607 | A>S | No |
ClinGen gnomAD |
|
|
CA365744599 rs1480382964 |
608 | G>A | No |
ClinGen gnomAD |
|
|
CA4012497 rs765317933 |
614 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365744561 rs765317933 |
614 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012495 rs367934419 |
615 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769173709 CA4012494 |
617 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA365744528 rs1472615958 |
619 | H>R | No |
ClinGen gnomAD |
|
|
rs761150146 CA4012493 |
620 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs773892320 CA4012492 |
620 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012490 rs199766383 |
621 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4012489 RCV000485493 rs777497854 |
622 | R>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 623 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365744505 rs1303133332 |
623 | I>T | No |
ClinGen TOPMed |
|
|
CA365744487 rs1464914962 |
626 | A>T | No |
ClinGen gnomAD |
|
|
CA148129189 rs931423146 |
627 | A>T | No |
ClinGen Ensembl |
|
|
rs769268394 CA4012488 |
628 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1177487947 CA365744468 |
629 | A>S | No |
ClinGen gnomAD |
|
|
CA4012486 rs780823419 |
631 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307042766 CA365744453 |
632 | D>N | No |
ClinGen TOPMed |
|
|
CA365744444 rs1472928037 |
633 | G>R | No |
ClinGen gnomAD |
|
|
CA365744425 rs1180334685 |
636 | I>V | No |
ClinGen gnomAD |
|
|
rs1467317289 CA365744412 |
638 | L>V | No |
ClinGen TOPMed |
|
|
rs974371363 CA365744394 RCV000722864 |
639 | Y>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs974371363 CA148126061 |
639 | Y>N | No |
ClinGen TOPMed |
|
|
CA365744371 rs1257057591 |
642 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4012474 rs761238509 |
643 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1291908829 CA365744356 |
645 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA365744335 rs1263133561 |
647 | M>I | No |
ClinGen gnomAD |
|
|
CA365744341 rs1333577695 |
647 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365744313 rs1246305866 |
650 | L>F | No |
ClinGen gnomAD |
|
|
CA365744308 rs1321973586 |
651 | C>Y | No |
ClinGen gnomAD |
|
|
rs866333196 CA148126028 |
654 | L>P | No |
ClinGen Ensembl |
|
|
rs1363466856 CA365744274 |
656 | I>T | No |
ClinGen gnomAD |
|
|
rs536177696 CA148126023 |
656 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs762532240 CA4012471 |
659 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA148126021 rs541041911 |
659 | D>G | Joubert syndrome (jbts) Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen Ensembl |
|
rs1323210459 CA365744255 |
659 | D>H | No |
ClinGen gnomAD |
|
|
rs772560701 CA501164 |
660 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA365744250 rs1394335930 |
660 | L>V | No |
ClinGen gnomAD |
|
|
CA365744241 rs1353894241 |
661 | S>F | No |
ClinGen gnomAD |
|
|
rs1221909332 CA365744237 |
662 | W>* | No |
ClinGen TOPMed |
|
|
CA365744225 rs1369272441 |
664 | K>E | No |
ClinGen gnomAD |
|
|
CA4012470 rs769531564 |
664 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012469 rs374984578 |
665 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371198770 CA4012468 |
669 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4012467 rs371198770 |
669 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1488485624 CA365744145 |
676 | G>D | No |
ClinGen gnomAD |
|
|
rs758363344 CA365744139 |
677 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs761596435 CA4012451 |
680 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764643543 CA4012452 |
680 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365743840 rs1236041314 |
681 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA365743803 rs1255380501 |
686 | N>D | No |
ClinGen TOPMed |
|
|
rs1583210354 CA365743789 |
687 | N>K | No |
ClinGen Ensembl |
|
|
CA4012449 rs768368062 |
687 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4012448 rs746824351 |
689 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs772087650 CA4012446 |
690 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1324339596 CA365743763 |
691 | F>L | No |
ClinGen gnomAD |
|
|
CA4012445 rs745769870 |
692 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365743761 rs1174300537 |
692 | R>K | No |
ClinGen gnomAD |
|
|
rs779105612 CA4012444 |
693 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA365743747 rs1179403052 |
694 | L>* | No |
ClinGen gnomAD |
|
|
CA148122594 rs1028885181 |
695 | P>A | No |
ClinGen TOPMed |
|
|
CA148122565 rs985216528 |
696 | H>Q | No |
ClinGen Ensembl |
|
|
CA4012442 rs749297572 |
698 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA365743705 rs1186763865 |
701 | Y>C | No |
ClinGen gnomAD |
|
|
CA4012441 rs756276537 |
702 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148122523 rs932386191 |
707 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4012439 rs753087412 |
707 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4012437 rs755569993 |
708 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA148122510 rs1053480269 |
709 | V>A | No |
ClinGen TOPMed |
|
|
CA4012436 rs752009063 |
709 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752009063 CA148122519 |
709 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365743651 rs1352407748 |
710 | R>K | No |
ClinGen gnomAD |
|
|
rs570782244 CA4012435 |
713 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA148122467 rs863225134 |
719 | D>A | Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen Ensembl |
|
CA365743581 rs1338530167 |
721 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365743582 rs1338530167 |
721 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365743573 rs1277674237 |
722 | I>V | No |
ClinGen TOPMed |
|
|
CA4012434 rs761245375 |
723 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs547837278 CA4012432 |
724 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4012433 rs376401728 |
724 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365743563 rs1387817125 |
724 | I>V | No |
ClinGen gnomAD |
|
|
rs1256025642 CA365743554 |
725 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 726 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365743540 rs1238797879 |
727 | V>A | No |
ClinGen gnomAD |
|
|
rs372883338 CA4012429 |
728 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4012427 rs200697251 |
732 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4012426 rs200697251 |
732 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 733 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148122403 rs956311950 |
735 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 736 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365743475 rs1227775795 |
737 | V>F | No |
ClinGen gnomAD |
|
|
rs531823954 CA4012424 |
738 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4012423 rs781671997 |
739 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA148122377 rs916761459 |
741 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA365743452 rs916761459 |
741 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1327998842 CA365743447 |
742 | V>I | No |
ClinGen TOPMed |
|
|
rs1562758423 CA365743432 |
744 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 745 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403041060 CA365743414 |
746 | F>S | No |
ClinGen gnomAD |
|
|
rs1403041060 CA365743415 |
746 | F>Y | No |
ClinGen gnomAD |
|
|
rs369855680 CA4012419 |
747 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763675347 CA4012418 |
748 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752392677 CA4012416 |
754 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4012403 rs372012542 |
756 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4012415 rs376754552 |
756 | G>S | Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1217388287 CA365743329 |
757 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA365743323 rs1369158180 |
758 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000762435 CA365743315 rs1562754136 |
759 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA365743298 rs794727174 |
761 | S>* | Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen gnomAD |
|
CA148121065 rs1014575550 |
762 | G>R | No |
ClinGen Ensembl |
|
|
CA148121057 rs1029862405 |
764 | C>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 764 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029862405 CA365743284 |
764 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1355452076 CA365743281 |
764 | C>Y | No |
ClinGen gnomAD |
|
|
rs1413296658 CA365743271 |
766 | G>R | No |
ClinGen gnomAD |
|
|
CA365743268 rs863225139 |
766 | G>V | Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen gnomAD |
|
CA365743266 rs755688765 |
767 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012399 rs752191636 |
768 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA148121042 rs1049221524 |
770 | V>I | No |
ClinGen Ensembl |
|
|
rs767095552 CA4012398 |
772 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778249065 CA148121029 |
776 | K>Q | No |
ClinGen Ensembl |
|
|
CA365743198 rs751347839 |
777 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012396 rs751347839 |
777 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279174135 CA365743190 |
778 | N>I | No |
ClinGen gnomAD |
|
|
rs201881881 CA365743163 |
782 | H>D | No |
ClinGen gnomAD |
|
|
rs201881881 CA148121000 |
782 | H>Y | No |
ClinGen gnomAD |
|
|
rs762949109 CA365743153 |
783 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012394 rs762949109 |
783 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377937999 CA365743152 |
784 | V>L | No |
ClinGen gnomAD |
|
|
CA148120981 rs376571444 |
785 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1583199499 CA365743124 |
788 | T>A | No |
ClinGen Ensembl |
|
|
CA148120963 rs1041781428 |
789 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1562753388 RCV000722772 |
790 | N>missing | No |
ClinVar dbSNP |
|
|
rs1181424358 CA365743108 |
790 | N>S | No |
ClinGen TOPMed |
|
|
CA365743098 rs1177783176 |
791 | K>N | No |
ClinGen gnomAD |
|
|
CA365743104 rs1361410232 |
791 | K>Q | No |
ClinGen gnomAD |
|
|
CA365742988 rs1243159820 |
793 | I>S | No |
ClinGen TOPMed |
|
|
rs779574810 CA4012383 |
794 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420027724 CA365742952 |
797 | E>D | No |
ClinGen TOPMed |
|
|
CA365742934 rs1385597641 |
799 | K>Q | No |
ClinGen gnomAD |
|
|
CA4012380 rs763696602 |
803 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365742830 rs1487870522 |
807 | E>Q | No |
ClinGen gnomAD |
|
|
rs751224614 CA365742798 |
809 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs751224614 CA4012378 |
809 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1362092820 CA365742777 |
811 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750173862 CA4012375 |
811 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012376 rs375584168 |
811 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365742735 rs1363664911 COSM1487253 |
814 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1298291395 CA365742733 |
814 | R>H | No |
ClinGen gnomAD |
|
|
rs1382919045 CA365742726 |
815 | L>V | No |
ClinGen gnomAD |
|
|
CA365742713 rs1336295657 |
816 | L>V | No |
ClinGen TOPMed |
|
|
CA365742684 rs1378219671 |
818 | H>Y | No |
ClinGen TOPMed |
|
|
CA4012373 rs761710229 |
819 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA148119836 rs755535580 |
820 | K>E | No |
ClinGen gnomAD |
|
|
CA365742642 rs1167738995 |
821 | D>G | No |
ClinGen gnomAD |
|
|
CA365742626 rs1447364125 |
822 | S>T | No |
ClinGen gnomAD |
|
|
CA4012372 rs776624343 |
827 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4012371 rs764221951 |
828 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs746256168 CA4012368 |
831 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs760822611 CA4012354 |
833 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148118755 rs1032012337 |
836 | K>E | No |
ClinGen Ensembl |
|
|
rs771405595 CA4012349 |
838 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763165069 CA4012348 |
842 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs763165069 CA365742341 |
842 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365742323 rs1267610948 |
844 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773787232 CA148118740 |
844 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365742316 rs1226606777 |
845 | E>G | No |
ClinGen gnomAD |
|
|
CA148118739 rs551903779 |
848 | H>D | No |
ClinGen Ensembl |
|
|
rs770153720 CA4012346 |
848 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365742263 rs1338662150 |
850 | T>I | No |
ClinGen gnomAD |
|
|
rs373971733 CA4012343 |
851 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393529718 CA365742254 |
852 | T>A | No |
ClinGen Ensembl |
|
|
CA365742237 rs1387769677 |
854 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs199736888 CA4012341 |
856 | T>I | Joubert syndrome 3 (jbts3) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs777787792 CA4012338 |
857 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365742154 rs1217172210 |
861 | G>E | No |
ClinGen TOPMed |
|
|
CA4012336 rs752861028 |
865 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA365742100 rs752861028 |
865 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA365742090 rs1448795637 |
866 | I>M | No |
ClinGen gnomAD |
|
|
rs767680809 CA4012335 |
866 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA16604857 rs1057524843 RCV000426607 |
870 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA365742016 rs1230085471 |
872 | P>L | No |
ClinGen TOPMed |
|
|
rs1047199932 CA148118655 |
873 | E>K | No |
ClinGen Ensembl |
|
|
CA148118649 rs376705634 |
874 | T>A | No |
ClinGen gnomAD |
|
|
CA365741494 rs1271404375 |
875 | G>E | No |
ClinGen gnomAD |
|
|
rs777127548 CA4012307 |
878 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4012306 rs764525761 |
879 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4012304 rs773692808 |
880 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs759069413 CA4012305 |
880 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365741410 rs1325063607 |
884 | L>W | No |
ClinGen gnomAD |
|
|
CA148117330 rs769983660 |
885 | P>S | No |
ClinGen gnomAD |
|
|
rs1456115430 CA365741335 |
890 | I>T | No |
ClinGen TOPMed |
|
|
CA365741329 rs1355690902 |
891 | R>G | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA4012302 rs200816459 |
891 | R>Q | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA365741318 rs1468337355 |
892 | D>N | No |
ClinGen gnomAD |
|
|
CA4012300 rs372710626 |
893 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365741295 rs1472405403 |
894 | S>A | No |
ClinGen gnomAD |
|
|
rs1295768486 CA365741286 |
894 | S>F | No |
ClinGen TOPMed |
|
|
rs1405978450 CA365741278 |
895 | Y>F | No |
ClinGen gnomAD |
|
|
rs747880989 CA4012299 |
900 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4012298 rs781305051 |
902 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA148117294 rs1000164320 |
903 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 904 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365741107 rs1213366157 |
905 | C>W | No |
ClinGen TOPMed |
|
|
CA4012296 rs199879855 |
905 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4012294 rs758706680 |
906 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326661094 CA365741065 |
908 | G>E | No |
ClinGen gnomAD |
|
|
CA4012291 rs757633154 |
910 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1583179892 CA365740991 |
911 | E>D | No |
ClinGen Ensembl |
|
|
rs763264465 CA148117258 |
912 | P>S | No |
ClinGen Ensembl |
|
|
rs754153046 CA4012290 |
913 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 915 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365740898 rs1583179767 |
916 | Y>C | No |
ClinGen Ensembl |
|
|
CA365740819 rs1337475182 |
919 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4012287 rs773959302 |
919 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1337475182 CA365740826 |
919 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772742235 CA4012284 |
921 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778088464 CA4012268 |
923 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4012267 rs756668771 |
924 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 926 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4012265 rs767998779 |
927 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs866488026 CA148543575 |
929 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 931 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301526139 CA365846186 |
932 | R>H | No |
ClinGen gnomAD |
|
|
rs1365944374 CA365846176 |
934 | N>D | No |
ClinGen gnomAD |
|
|
rs546750537 CA4012261 |
934 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1170550561 CA365846147 |
938 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365846148 rs1374658118 |
938 | P>S | No |
ClinGen gnomAD |
|
|
CA4012258 rs771997998 |
940 | P>S | No |
ClinGen ExAC |
|
|
CA4012257 rs567187720 |
941 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365846116 rs778930773 |
943 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs778930773 CA4012256 |
943 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA365846096 rs1270075351 |
946 | Q>* | No |
ClinGen gnomAD |
|
|
CA365846094 rs1183310371 |
946 | Q>R | No |
ClinGen gnomAD |
|
|
CA4012254 rs749497649 |
947 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1338019216 CA365846086 |
947 | D>G | No |
ClinGen gnomAD |
|
|
CA4012253 rs778174191 |
948 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756470790 CA4012252 |
949 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281675137 CA365846072 |
950 | C>G | No |
ClinGen gnomAD |
|
|
rs1225607963 CA365846070 |
950 | C>Y | No |
ClinGen gnomAD |
|
|
CA148543574 rs780564321 |
951 | T>S | No |
ClinGen gnomAD |
|
|
rs1327946004 CA365846061 |
952 | C>S | No |
ClinGen gnomAD |
|
|
CA365846058 rs1562703220 |
952 | C>Y | No |
ClinGen Ensembl |
|
|
CA4012251 rs753045684 |
953 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 953 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753045684 CA365846052 |
953 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4012250 rs781584615 |
956 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 956 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365846026 rs1298672745 |
957 | H>R | No |
ClinGen gnomAD |
|
|
rs749955253 CA4012248 |
959 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365846007 rs764830616 |
960 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA148543572 rs923221953 |
960 | S>T | No |
ClinGen TOPMed |
|
|
CA4012247 rs764830616 |
960 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365845999 rs1193061062 |
961 | F>L | No |
ClinGen gnomAD |
|
|
CA365846002 rs1319959449 |
961 | F>S | No |
ClinGen TOPMed |
|
|
rs753545355 CA4012245 |
964 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220958892 CA365845983 |
964 | D>N | No |
ClinGen TOPMed |
|
|
CA148543571 rs1012024407 |
969 | T>S | No |
ClinGen TOPMed |
|
|
rs775314657 CA4012242 |
970 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183792227 CA365845916 |
973 | S>L | No |
ClinGen TOPMed |
|
|
CA365845913 rs373303895 |
974 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4012238 rs373303895 |
974 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs532621380 CA4012236 |
975 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770006937 CA4012235 |
976 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA365845883 rs1307676365 |
977 | Q>E | No |
ClinGen gnomAD |
|
|
CA148543570 rs967808894 |
977 | Q>R | No |
ClinGen TOPMed |
|
|
CA4012234 rs748504380 |
978 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755499702 CA4012232 |
979 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1469812412 CA365845829 |
981 | Q>E | No |
ClinGen gnomAD |
|
|
CA365845819 rs1554326426 RCV000523246 |
982 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA365845816 rs370400336 |
982 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4012230 rs780642756 |
984 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468973188 CA365845787 |
985 | T>A | No |
ClinGen gnomAD |
|
|
rs1348619633 CA365845785 |
985 | T>S | No |
ClinGen gnomAD |
|
|
rs1303310772 CA365845775 |
986 | V>A | No |
ClinGen gnomAD |
|
| rs753351221 | 987 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756841248 CA4012227 |
987 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012203 rs767007511 |
993 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA365844867 rs1305298780 |
993 | C>S | No |
ClinGen TOPMed |
|
|
CA4012202 rs754777140 |
996 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4012189 rs747411182 |
997 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA365843899 rs1305344511 |
998 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365843870 rs1166644056 |
1001 | L>I | No |
ClinGen TOPMed |
|
|
rs1347960440 CA365843867 |
1001 | L>P | No |
ClinGen TOPMed |
|
|
rs1562659917 CA365843843 |
1004 | T>A | No |
ClinGen Ensembl |
|
|
CA365843838 rs1583010980 |
1004 | T>I | No |
ClinGen Ensembl |
|
|
CA148541758 rs760193026 |
1006 | P>S | No |
ClinGen Ensembl |
|
|
CA365843815 rs1424457120 |
1008 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365843810 rs746362494 |
1009 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012187 rs746362494 |
1009 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012184 rs574086669 |
1012 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142381345 CA365843768 |
1013 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4012182 rs754581172 |
1015 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206510020 CA365843718 |
1018 | Q>* | No |
ClinGen gnomAD |
|
|
CA148541757 rs1013941655 |
1020 | N>I | No |
ClinGen TOPMed |
|
|
rs1187965575 CA365843682 |
1021 | M>T | No |
ClinGen TOPMed |
|
|
rs1562659443 CA365843665 |
1023 | T>P | No |
ClinGen Ensembl |
|
|
rs750383545 CA4012179 |
1024 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868723363 CA148541755 |
1025 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1026 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365843623 rs995207087 |
1027 | I>F | No |
ClinGen TOPMed |
|
|
rs995207087 CA148541753 |
1027 | I>L | No |
ClinGen TOPMed |
|
|
CA365843573 rs1278102288 |
1032 | G>C | No |
ClinGen gnomAD |
|
|
rs1445033875 CA365843548 |
1034 | T>I | No |
ClinGen gnomAD |
|
|
rs1401580475 CA365843543 |
1035 | Q>* | No |
ClinGen gnomAD |
|
|
CA365843527 rs1455353901 |
1036 | T>A | No |
ClinGen TOPMed |
|
|
rs750747247 CA4012108 |
1037 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs368417545 CA4012175 |
1037 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365840951 rs1383708769 |
1038 | I>L | No |
ClinGen gnomAD |
|
|
CA4012106 rs762287285 |
1039 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA365840940 rs1253751925 |
1039 | I>V | No |
ClinGen gnomAD |
|
|
rs572966075 CA4012105 |
1041 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365840894 rs1353806843 |
1043 | R>G | No |
ClinGen TOPMed |
|
|
CA4012103 rs373392291 |
1043 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1307825583 CA365840867 |
1045 | P>A | No |
ClinGen TOPMed |
|
|
rs773887212 CA4012102 |
1046 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs759523949 CA4012101 |
1048 | H>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365840820 rs770568902 |
1048 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA4012100 rs770568902 |
1048 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs770568902 CA365840822 |
1048 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA365840768 rs762868638 |
1052 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012099 rs762868638 |
1052 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203229069 CA365840758 |
1053 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365840754 rs201691998 |
1054 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769898244 CA4012097 |
1055 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751040653 CA4012083 |
1058 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751040653 CA365845866 |
1058 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365845862 rs1583719768 |
1059 | L>V | No |
ClinGen Ensembl |
|
|
rs1404709929 CA365845844 |
1060 | Y>C | No |
ClinGen gnomAD |
|
|
rs375281757 CA4012082 |
1063 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4012081 rs375281757 |
1063 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769705227 CA4012080 |
1064 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769705227 COSM1685024 CA4012079 |
1064 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768599539 CA4012076 |
1065 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012077 rs768599539 |
1065 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544992761 CA4012072 |
1066 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4012071 rs779038841 |
1067 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1068 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558305606 CA365845725 |
1071 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4012069 rs558305606 |
1071 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374945386 CA4012068 |
1073 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756612817 CA4012067 |
1073 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA148533692 rs374945386 |
1073 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751078274 CA4012066 |
1074 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1199922772 CA365845710 COSM1073621 |
1074 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA148533691 rs992650520 |
1076 | D>G | No |
ClinGen TOPMed |
|
|
CA365845691 rs1223319739 |
1077 | I>T | No |
ClinGen gnomAD |
|
|
CA365845694 rs1415430874 |
1077 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764935070 CA4012063 |
1078 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs761732432 CA4012062 |
1079 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4012061 rs371242173 |
1079 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1034288915 CA148533689 |
1080 | V>G | No |
ClinGen TOPMed |
|
|
CA365845678 rs1562499390 |
1080 | V>M | No |
ClinGen Ensembl |
|
|
rs1448160803 CA365845673 |
1081 | F>L | No |
ClinGen TOPMed |
|
|
CA365845653 rs1329408854 |
1083 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1084 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472903432 CA365845640 |
1085 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4012059 rs775503155 |
1088 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA148533687 rs201270602 |
1088 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs745887780 CA4012057 |
1089 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012058 rs772146116 |
1089 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1583718562 CA365845569 |
1092 | S>R | No |
ClinGen Ensembl |
|
|
rs749649946 CA4012054 |
1093 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4012053 rs778177362 |
1096 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365845518 rs1457793607 |
1097 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA365845521 rs1457793607 |
1097 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781482718 CA4012050 |
1102 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781482718 CA365845447 |
1102 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758005898 CA4012049 |
1103 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365845431 rs1453261170 |
1104 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1106 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004676211 CA148533685 |
1109 | E>K | No |
ClinGen TOPMed |
|
|
rs891027780 CA148533170 |
1110 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4012033 rs770197175 |
1111 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1429826481 CA365844490 |
1111 | L>V | No |
ClinGen gnomAD |
|
|
CA148533169 rs762102067 |
1112 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA365844466 rs762102067 |
1112 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1328199471 CA365844415 |
1116 | P>L | No |
ClinGen TOPMed |
|
|
CA365844416 rs1162154639 |
1116 | P>S | No |
ClinGen gnomAD |
|
|
rs1162154639 CA365844418 |
1116 | P>T | No |
ClinGen gnomAD |
|
|
CA365844406 rs1425036003 |
1117 | P>S | No |
ClinGen gnomAD |
|
|
rs1414135012 CA365844393 |
1118 | E>D | No |
ClinGen gnomAD |
|
|
rs1216710118 CA365844401 |
1118 | E>Q | No |
ClinGen TOPMed |
|
|
rs1185597783 CA365844359 |
1121 | E>K | No |
ClinGen gnomAD |
|
|
CA4012029 rs745419871 |
1130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4012028 rs372673953 |
1131 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs920897302 CA365844227 |
1132 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs920897302 CA148533166 |
1132 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756931330 CA4012027 |
1133 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs753536518 CA4012026 |
1134 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291681106 CA365844169 |
1136 | K>T | No |
ClinGen gnomAD |
|
|
CA365844151 rs1349995791 |
1137 | S>F | No |
ClinGen gnomAD |
|
|
CA4012025 rs763598267 |
1137 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1562490268 CA365844147 |
1138 | P>A | No |
ClinGen Ensembl |
|
|
CA4012023 rs752391496 |
1139 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365844108 rs1196382324 |
1141 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751501978 CA4012002 |
1143 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA148531303 rs982379114 |
1144 | S>* | No |
ClinGen TOPMed |
|
|
rs1297900436 CA365841322 |
1145 | I>M | No |
ClinGen gnomAD |
|
|
rs1562458813 RCV000722446 |
1146 | N>missing | No |
ClinVar dbSNP |
|
|
rs894163780 CA148531302 |
1146 | N>S | No |
ClinGen TOPMed |
|
|
rs1055866982 CA148531301 |
1147 | K>E | No |
ClinGen Ensembl |
|
|
CA4012000 rs763126846 |
1147 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375604528 CA148531300 |
1150 | S>F | No |
ClinGen Ensembl |
|
|
CA4011999 rs750439539 |
1150 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA365841286 rs1159289720 |
1151 | Q>* | No |
ClinGen gnomAD |
|
|
RCV000998686 rs765545542 CA365841282 |
1151 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 1151 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777207815 CA4011996 |
1154 | R>K | No |
ClinGen ExAC |
|
|
CA365841249 rs1262204877 |
1156 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1424578270 CA365841252 |
1156 | G>R | No |
ClinGen gnomAD |
|
|
CA365841246 rs1262204877 |
1156 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA148531298 rs952789093 CA365841220 |
1160 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1425771650 CA365841209 |
1162 | H>R | No |
ClinGen gnomAD |
|
|
CA4011993 rs202082310 |
1162 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4011966 rs779701188 |
1167 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1480785408 CA365840868 |
1171 | H>Y | No |
ClinGen gnomAD |
|
|
CA365840840 rs1236527475 |
1172 | E>D | No |
ClinGen gnomAD |
|
|
rs368322920 CA4011963 |
1173 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365840805 rs1562439276 |
1175 | G>R | No |
ClinGen Ensembl |
|
|
rs1235707819 CA365840780 |
1176 | H>R | No |
ClinGen gnomAD |
|
|
rs1168048728 CA365840785 |
1176 | H>Y | No |
ClinGen TOPMed |
|
|
rs1353531887 CA365840767 |
1177 | I>L | No |
ClinGen gnomAD |
|
|
rs374366068 CA4011961 |
1178 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753932826 CA4011959 |
1181 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365840712 rs1446032018 |
1182 | M>R | No |
ClinGen gnomAD |
|
|
CA4011956 rs753158533 |
1186 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1419039017 CA365840683 |
1186 | K>R | No |
ClinGen gnomAD |
|
|
rs767765604 CA365840667 |
1188 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs767765604 CA4011955 |
1188 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3829114 rs774732509 CA4011953 |
1189 | G>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1412680004 CA365840661 |
1190 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4011952 rs766820116 |
1191 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA148530242 rs976929589 |
1196 | E>K | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q8N157
1 regional properties for Q8N157
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | von Willebrand factor, type A | 319 - 483 | IPR002035 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| MKS complex | A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane. |
| non-motile cilium | A cilium which may have a variable array of axonemal microtubules but does not contain molecular motors. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| cloaca development | The process whose specific outcome is the progression of the cloaca over time, from it's formation to the mature structure. The cloaca is the common chamber into which intestinal, genital and urinary canals open in vertebrates. |
| heart looping | The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation. |
| hindbrain development | The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium). |
| Kupffer's vesicle development | The progression of the Kupffer's vesicle over time from its initial formation until its mature state. The Kupffer's vesicle is a small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. |
| left/right axis specification | The establishment, maintenance and elaboration of the left/right axis. The left/right axis is defined by a line that runs orthogonal to both the anterior/posterior and dorsal/ventral axes. Each side is defined from the viewpoint of the organism rather of the observer (as per anatomical axes). |
| morphogenesis of a polarized epithelium | The morphogenetic process in which the anatomical structures of a polarized epithelium are generated and organized. A polarized epithelium is an epithelium where the epithelial sheet is oriented with respect to the planar axis. |
| motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a motile cilium. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| otic vesicle development | The process whose specific outcome is the progression of the otic vesicle over time, from its formation to the mature structure. The otic vesicle is a transient embryonic structure formed during development of the vertebrate inner ear. |
| photoreceptor cell outer segment organization | A process that is carried out at the cellular level and results in the assembly, arrangement of constituent parts, or disassembly of the outer segment of a photoreceptor cell, a sensory cell that reacts to the presence of light. The outer segment of the photoreceptor cell contains the light-absorbing materials. |
| positive regulation of polarized epithelial cell differentiation | Any process that activates or increases the rate or extent of polarized epithelial cell differentiation. |
| positive regulation of receptor internalization | Any process that activates or increases the frequency, rate or extent of receptor internalization. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| pronephric duct morphogenesis | The process in which the anatomical structures of the pronephric duct are generated and organized. The pronephric duct collects the filtrate from the pronephric tubules and opens to the exterior of the kidney. |
| pronephric nephron tubule morphogenesis | The process in which the anatomical structures of a pronephric nephron tubule are generated and organized from an epithelium. A pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| regulation of behavior | Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. |
| retina layer formation | The process in which the vertebrate retina is organized into three laminae: the outer nuclear layer (ONL), which contains photoreceptor nuclei; the inner nuclear layer (INL), which contains amacrine, bipolar and horizontal cells; and the retinal ganglion cell (RGC) layer. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells. The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells. Spanning all layers of the retina are the radially oriented Mueller glia. |
| specification of axis polarity | The pattern specification process in which the polarity of a body or organ axis is established and maintained. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0V8J1 | WSB2 | WD repeat and SOCS box-containing protein 2 | Bos taurus (Bovine) | PR |
| Q6ZMY6 | WDR88 | WD repeat-containing protein 88 | Homo sapiens (Human) | PR |
| Q9NYS7 | WSB2 | WD repeat and SOCS box-containing protein 2 | Homo sapiens (Human) | PR |
| Q8TEB1 | DCAF11 | DDB1- and CUL4-associated factor 11 | Homo sapiens (Human) | PR |
| Q5JSH3 | WDR44 | WD repeat-containing protein 44 | Homo sapiens (Human) | PR |
| Q5F201 | Cfap52 | Cilia- and flagella-associated protein 52 | Mus musculus (Mouse) | PR |
| O54929 | Wsb2 | WD repeat and SOCS box-containing protein 2 | Mus musculus (Mouse) | PR |
| A6H603 | Nwd1 | NACHT domain- and WD repeat-containing protein 1 | Mus musculus (Mouse) | PR |
| Q8K3E5 | Ahi1 | Jouberin | Mus musculus (Mouse) | PR |
| Q23256 | wdr-5.3 | WD repeat-containing protein wdr-5.3 | Caenorhabditis elegans | PR |
| Q94AI7 | TPL | Protein TOPLESS | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0WV90 | TPR1 | Topless-related protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LRZ0 | TPR2 | Topless-related protein 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPTAESEAKV | KTKVRFEELL | KTHSDLMREK | KKLKKKLVRS | EENISPDTIR | SNLHYMKETT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SDDPDTIRSN | LPHIKETTSD | DVSAANTNNL | KKSTRVTKNK | LRNTQLATEN | PNGDASVEED |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KQGKPNKKVI | KTVPQLTTQD | LKPETPENKV | DSTHQKTHTK | PQPGVDHQKS | EKANEGREET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DLEEDEELMQ | AYQCHVTEEM | AKEIKRKIRK | KLKEQLTYFP | SDTLFHDDKL | SSEKRKKKKE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPVFSKAETS | TLTISGDTVE | GEQKKESSVR | SVSSDSHQDD | EISSMEQSTE | DSMQDDTKPK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PKKTKKKTKA | VADNNEDVDG | DGVHEITSRD | SPVYPKCLLD | DDLVLGVYIH | RTDRLKSDFM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ISHPMVKIHV | VDEHTGQYVK | KDDSGRPVSS | YYEKENVDYI | LPIMTQPYDF | KQLKSRLPEW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EEQIVFNENF | PYLLRGSDES | PKVILFFEIL | DFLSVDEIKN | NSEVQNQECG | FRKIAWAFLK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LLGANGNANI | NSKLRLQLYY | PPTKPRSPLS | VVEAFEWWSK | CPRNHYPSTL | YVTVRGLKVP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DCIKPSYRSM | MALQEEKGKP | VHCERHHESS | SVDTEPGLEE | SKEVIKWKRL | PGQACRIPNK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HLFSLNAGER | GCFCLDFSHN | GRILAAACAS | RDGYPIILYE | IPSGRFMREL | CGHLNIIYDL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SWSKDDHYIL | TSSSDGTARI | WKNEINNTNT | FRVLPHPSFV | YTAKFHPAVR | ELVVTGCYDS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MIRIWKVEMR | EDSAILVRQF | DVHKSFINSL | CFDTEGHHMY | SGDCTGVIVV | WNTYVKINDL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EHSVHHWTIN | KEIKETEFKG | IPISYLEIHP | NGKRLLIHTK | DSTLRIMDLR | ILVARKFVGA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ANYREKIHST | LTPCGTFLFA | GSEDGIVYVW | NPETGEQVAM | YSDLPFKSPI | RDISYHPFEN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| MVAFCAFGQN | EPILLYIYDF | HVAQQEAEMF | KRYNGTFPLP | GIHQSQDALC | TCPKLPHQGS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FQIDEFVHTE | SSSTKMQLVK | QRLETVTEVI | RSCAAKVNKN | LSFTSPPAVS | SQQSKLKQSN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| MLTAQEILHQ | FGFTQTGIIS | IERKPCNHQV | DTAPTVVALY | DYTANRSDEL | TIHRGDIIRV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| FFKDNEDWWY | GSIGKGQEGY | FPANHVASET | LYQELPPEIK | ERSPPLSPEE | KTKIEKSPAP |
| 1150 | 1160 | 1170 | 1180 | 1190 | |
| QKQSINKNKS | QDFRLGSESM | THSEMRKEQS | HEDQGHIMDT | RMRKNKQAGR | KVTLIE |