P21333
SS
Gene name |
FLNA (FLN, FLN1) |
Protein name |
Filamin-A |
Names |
FLN-A, Actin-binding protein 280, ABP-280, Alpha-filamin, Endothelial actin-binding protein, Filamin-1, Non-muscle filamin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2316 |
EC number |
|
Protein Class |
|
Descriptions
Filamins are actin-crosslinking proteins including an N terminal actin-binding domain and 24 Ig-like domain (IgFLNs). In a study with human FLNB, the N-terminus of IgFLNa20 forms a β-strand that associates with the integrin binding surface of IgFLNa21 and occupies the binding site for integrin adhesion receptors. Disruption of this IgFLNa20-IgFLNa21 interaction enhances filamin binding to integrin β-tails.
Autoinhibitory domains (AIDs)
Target domain |
2236-2329 (IgFLNa21 domain) |
Relief mechanism |
PTM, Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
25 structures for P21333
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2AAV | NMR | - | A | 1863-1956 | PDB |
| 2BP3 | X-ray | 232 A | A/B | 1863-1956 | PDB |
| 2BRQ | X-ray | 210 A | A/B | 2236-2329 | PDB |
| 2J3S | X-ray | 250 A | A/B | 2045-2329 | PDB |
| 2JF1 | X-ray | 220 A | A | 2236-2329 | PDB |
| 2K3T | NMR | - | A | 2427-2522 | PDB |
| 2K7P | NMR | - | A | 1772-1956 | PDB |
| 2K7Q | NMR | - | A | 1954-2141 | PDB |
| 2MTP | NMR | - | A | 2236-2330 | PDB |
| 2W0P | X-ray | 190 A | A/B | 2236-2329 | PDB |
| 2WFN | X-ray | 320 A | A/B | 1-278 | PDB |
| 3CNK | X-ray | 165 A | A/B | 2559-2647 | PDB |
| 3HOC | X-ray | 230 A | A/B | 2-269 | PDB |
| 3HOP | X-ray | 230 A | A/B | 2-269 | PDB |
| 3HOR | X-ray | 270 A | A/B | 2-269 | PDB |
| 3ISW | X-ray | 280 A | A/B | 2236-2329 | PDB |
| 3RGH | X-ray | 244 A | A/B | 1158-1252 | PDB |
| 4M9P | X-ray | 172 A | A | 478-766 | PDB |
| 4P3W | X-ray | 200 A | A/B/C/D/E/F | 2152-2329 | PDB |
| 5XR1 | NMR | - | A | 2236-2329 | PDB |
| 6D8C | EM | 354 A | A/B/C/D/E | 1-278 | PDB |
| 6EW1 | X-ray | 231 A | A | 478-766 | PDB |
| 7SC4 | X-ray | 185 A | A/B | 2236-2329 | PDB |
| 7SFT | NMR | - | A | 2236-2330 | PDB |
| AF-P21333-F1 | Predicted | AlphaFoldDB |
1516 variants for P21333
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000830735 rs781866647 RCV001858427 CA10561478 |
5 | H>Y | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000524050 rs1557180289 RCV001857974 CA415255897 |
6 | S>P | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs398122521 RCV000043474 RCV000577880 |
7 | R>missing | Congenital short bowel syndrome, X-linked Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002056848 rs782292045 CA10561473 RCV000501455 |
9 | G>C | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782721874 RCV000621701 RCV000197428 RCV000464227 RCV000680546 |
21 | V>missing | Connective tissue disorder Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012537 rs80338840 |
23 | T>missing | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001859453 rs886038966 CA10587975 RCV000253908 |
26 | A>P | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA415255649 RCV000577884 rs1557180226 |
28 | M>V | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000012531 VAR_022734 CA256059 rs137853313 |
39 | A>G | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant PVNH1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs786205181 RCV000170401 |
46 | Q>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253547 rs2067802877 |
47 | N>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_015699 CA256055 RCV000012520 rs28935169 |
82 | E>V | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant PVNH1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000012517 rs863223297 |
96 | R>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012533 CA256061 rs137853315 VAR_031306 |
128 | A>V | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant PVNH1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_015713 rs863223628 CA323849 |
170 | Q>P | OPD2 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs1557179659 CA415249644 RCV000624004 |
174 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000012513 rs137853310 CA256051 |
182 | Q>* | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557179648 RCV000661988 RCV000661989 RCV000661985 RCV000661984 RCV000661986 CA415249427 RCV000661987 |
182 | Q>H | Heterotopia, periventricular, X-linked dominant Melnick-Needles syndrome Cardiac valvular dysplasia, X-linked Terminal osseous dysplasia-pigmentary defects syndrome FG syndrome 2 Frontometaphyseal dysplasia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000197586 RCV000764866 CA322045 rs782447567 |
190 | R>Q | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_015716 rs137853317 CA234009 |
196 | R>W | Periventricular nodular heterotopia 1 (pvnh1) OPD1 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs137853314 VAR_031308 CA256060 RCV000012532 |
203 | D>Y | OPD1 Oto-palato-digital syndrome, type I [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000012521 VAR_015700 rs28935469 CA256056 RCV000415125 |
207 | P>L | Cleft hard and soft palate OPD1 Oto-palato-digital syndrome, type I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs797045163 CA204972 RCV000191017 |
208 | G>R | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000012540 rs137853318 CA256064 VAR_058720 |
210 | C>F | OPD2 Oto-palato-digital syndrome, type II [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2067772758 RCV001249713 |
232 | A>V | FLNA-related otopalatodigital spectrum disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000170425 rs786205203 |
245 | E>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_015701 rs28935470 CA221728 |
254 | E>K | OPD2 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA415248283 rs375503410 RCV000761278 |
287 | Y>* | FLNA related lung disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000012544 CA121667 rs267606816 VAR_064156 |
288 | G>R | Cardiac valvular dysplasia, X-linked CVD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs782140428 CA415248175 RCV000716969 |
291 | I>M | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371368679 CA10561295 RCV000717415 |
340 | R>H | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000557383 RCV000346638 rs782007408 CA10561294 |
344 | V>I | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2067763458 RCV001058596 |
345 | W>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000242856 CA10561292 rs782643025 RCV001859466 |
348 | P>A | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000170399 CA274718 rs370490152 |
349 | E>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10561291 rs370490152 RCV002066179 RCV000939218 |
349 | E>K | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786205180 RCV000170400 |
354 | H>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782121971 RCV000851369 CA415246576 |
373 | Y>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000537961 CA10561253 rs201681328 |
374 | V>M | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs782090266 RCV000680544 CA10561251 |
380 | D>N | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2067760741 RCV001071657 |
387 | Q>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001824673 RCV001857719 rs781879374 RCV000680543 RCV000199704 CA324252 |
400 | K>N | Connective tissue disorder Heterotopia, periventricular, X-linked dominant FLNA related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA415244157 RCV000767982 rs1569551838 |
402 | T>A | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782041563 RCV001503759 CA10561237 RCV000934640 |
408 | T>A | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs863223643 RCV000509373 CA320876 |
423 | P>S | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10561214 rs782066542 RCV001546023 RCV001862046 RCV000718193 |
424 | M>V | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1360400826 CA415243767 RCV001331936 |
450 | M>T | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2067757148 RCV001267066 |
452 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000483625 RCV001865488 rs782495199 CA16621257 |
456 | V>L | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001332001 CA10561192 RCV000719293 rs367948333 |
467 | R>C | History of neurodevelopmental disorder FG syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000723066 RCV000640745 CA10561190 rs782434140 |
469 | P>L | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782168634 CA10561173 RCV000640774 RCV000224666 RCV000250726 |
480 | P>L | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782371735 RCV000549670 RCV000198621 CA323155 |
484 | R>Q | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000720495 rs61730768 RCV000598415 CA10561169 |
484 | R>W | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs782434042 RCV001855871 CA10561166 RCV000756179 |
488 | R>W | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10561160 RCV000659654 rs782539251 |
496 | R>Q | Connective tissue disorder Periventricular nodular heterotopia 1 (pvnh1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA415243276 RCV001865666 rs1557178957 RCV000509147 |
524 | G>E | Heterotopia, periventricular, X-linked dominant Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001509132 RCV001857098 rs782450368 CA10561145 RCV000503127 |
527 | R>H | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_031309 RCV000490438 COSM3844087 CA302718 COSM3844086 RCV000174052 RCV000716373 rs143873938 RCV000617454 RCV000755539 |
528 | V>M | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder breast [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10561138 rs782321294 RCV000229495 |
535 | D>N | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001853152 rs863223618 CA324424 RCV000199879 |
539 | G>D | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10561126 rs782611953 VAR_015719 |
555 | T>K | OPD2 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000719183 rs781852373 CA10561118 |
563 | R>H | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782580317 RCV000690722 CA10561096 |
565 | P>S | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA274723 RCV000170403 RCV002221507 rs786205182 |
574 | C>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810102 rs1603362451 CA415242349 |
600 | E>G | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16608338 rs1057522788 RCV001861587 RCV000434400 |
602 | I>V | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200116438 RCV001868372 RCV000720614 CA10561077 |
603 | G>R | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000494059 rs1131691935 RCV001865554 CA415241965 |
622 | E>K | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782718606 CA10561055 RCV000720375 |
632 | D>N | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs111516546 RCV000617829 CA10561053 RCV000458388 |
634 | R>G | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000232200 CA10561052 rs782038837 |
634 | R>H | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267606815 RCV001198242 CA10561050 |
637 | P>L | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267606815 VAR_064157 CA121666 RCV000012543 |
637 | P>Q | Cardiac valvular dysplasia, X-linked CVD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs782178831 RCV001332002 RCV001197823 |
642 | E>* | Heterotopia, periventricular, X-linked dominant Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067741257 RCV001210380 |
645 | V>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000732451 rs373286506 CA10561046 RCV001855685 |
645 | V>I | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137853311 RCV000012518 RCV001857335 CA256053 RCV001753412 VAR_012834 |
656 | L>F | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant PVNH1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000761292 rs1569551783 |
674 | R>missing | FLNA related lung disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10561020 RCV000640772 RCV000608508 rs781798819 |
676 | K>R | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10561009 RCV000714634 RCV000714633 rs782287086 |
708 | R>W | FG syndrome 2 Frontometaphyseal dysplasia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA121668 VAR_064158 RCV000012545 rs267606817 |
711 | V>D | Cardiac valvular dysplasia, X-linked CVD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000764864 CA415237672 RCV000497359 rs1297013254 |
752 | V>I | Periventricular nodular heterotopia 1 (pvnh1) Cardiac valvular dysplasia, X-linked [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001232992 rs2067723474 |
762 | N>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000578163 rs1557178374 CA415237538 |
770 | N>S | Oto-palato-digital syndrome, type I [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10560955 RCV000622077 RCV000704079 rs371839875 |
775 | Y>H | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000426387 RCV000547200 rs201073998 CA10560948 |
797 | A>T | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001195903 CA415236565 rs1557178278 |
823 | D>N | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1347740802 CA415236389 RCV000687630 |
828 | R>H | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA415236379 rs1557178269 RCV000535719 |
829 | N>D | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781846227 CA10560912 RCV000719503 RCV000459346 |
831 | N>S | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA415233598 rs1557178202 RCV000640753 |
862 | I>V | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs200679107 RCV002060899 CA10560880 RCV000715585 RCV000723221 |
870 | H>R | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569551740 RCV001862083 RCV000720651 COSM3844080 CA415233435 COSM3844081 |
878 | E>K | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000717561 RCV000620251 rs199911951 RCV000200324 CA231114 RCV000117053 |
909 | V>I | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs782045915 CA10560852 RCV000232732 |
915 | T>N | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1569551736 RCV000012529 |
921 | R>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805003 CA415232763 rs1557178146 RCV001260711 |
922 | D>H | Heterotopia, periventricular, X-linked dominant Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1557178134 CA415232473 RCV000534793 |
931 | N>I | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM123190 CA321493 rs782180774 RCV000197050 RCV000622124 RCV000474233 |
938 | T>M | upper_aerodigestive_tract Heterotopia, periventricular, X-linked dominant [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10560817 RCV001002356 COSM3694443 COSM3694444 RCV000696368 rs782239678 |
947 | V>I | Heterotopia, periventricular, X-linked dominant large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10560791 RCV000717635 rs782445995 RCV000767980 |
992 | T>A | Cardiac valvular dysplasia, X-linked History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001262956 RCV001751529 rs1557178033 CA415230823 |
1008 | I>T | Melnick-Needles syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs200150148 RCV000715654 RCV000176182 CA201833 |
1022 | P>A | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10560781 RCV001291758 rs782663281 |
1031 | V>A | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000659661 CA10560780 rs782546714 |
1032 | R>C | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001853959 RCV000584929 CA10560779 rs781782783 |
1032 | R>H | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000719342 CA415229351 rs1569551691 |
1078 | Q>H | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001007866 rs782632029 CA415229186 |
1086 | A>T | FG syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA325093 RCV000200512 COSM1190653 rs782518956 RCV001396171 |
1087 | R>C | lung Heterotopia, periventricular, X-linked dominant [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000820171 rs1603361195 |
1099 | G>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320587 RCV001853151 rs782395522 RCV000196168 |
1136 | I>V | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000012523 CA256057 VAR_015702 rs28935471 |
1159 | D>A | FMD1; does not inhibit interaction with MIS18BP1 Frontometaphyseal dysplasia 1 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs786205188 RCV000170409 |
1177 | E>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415224704 RCV000640729 rs1557177738 |
1177 | E>* | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000020424 rs80338837 VAR_015720 CA341809 |
1184 | D>E | MNS Melnick-Needles syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA256058 rs137853312 VAR_015721 |
1186 | S>L | Periventricular nodular heterotopia 1 (pvnh1) FMD1 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
VAR_015703 CA341131 RCV000523000 RCV000012524 rs28935472 |
1188 | A>T | Melnick-Needles syndrome Melnick-needles syndrome (mns) MNS; does not inhibit interaction with MIS18BP1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA341132 rs28935473 RCV000012525 RCV000472168 VAR_015704 |
1199 | S>L | Periventricular nodular heterotopia 1 (pvnh1) Melnick-Needles syndrome Melnick-needles syndrome (mns) Oto-palato-digital syndrome, type II MNS; does not inhibit interaction with MIS18BP1 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA322442 RCV000197967 RCV001853154 rs782721742 |
1212 | H>Y | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001853670 RCV000519592 RCV000720518 CA415222401 rs1420631223 |
1272 | R>C | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000012541 VAR_058721 rs137853319 RCV000621734 CA121665 |
1291 | P>L | FGS2 Fg syndrome 2 (fgs2) FG syndrome 2 [UniProt, Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001336375 rs781816229 RCV001871884 CA415222104 |
1296 | R>C | Heterotopia, periventricular, X-linked dominant Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000199516 RCV001853155 rs863223623 CA324059 |
1296 | R>H | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs786205189 RCV000170410 |
1297 | V>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10560637 RCV000659666 rs782412141 |
1309 | V>I | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs781928289 CA10560635 RCV000754796 |
1312 | R>C | Myopia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10560616 rs782746289 RCV000526244 |
1329 | H>Y | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000680539 CA415220875 rs1569551635 |
1331 | V>M | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170412 rs786205191 |
1336 | D>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001089123 RCV000197214 CA321659 rs782774182 |
1361 | H>R | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000012530 rs863223299 |
1383 | A>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067685860 RCV001198414 |
1422 | Y>C | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10560559 RCV000718286 rs192337215 |
1432 | Q>K | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA415217388 rs1557177412 RCV000767979 |
1438 | F>L | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001332004 CA415216841 rs868967647 |
1461 | G>S | FG syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001291712 rs2067683771 |
1468 | P>L | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000176638 rs782129236 RCV000556510 CA202041 |
1474 | D>N | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782349011 CA10560530 RCV000640744 |
1482 | P>S | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs398123620 RCV000176639 RCV000170414 |
1483 | L>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000408810 rs1057516198 CA10654933 |
1484 | Q>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781972123 RCV000690723 CA10560516 |
1500 | V>A | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1557177310 RCV000583418 CA415215642 RCV002221561 |
1510 | N>H | Ehlers-Danlos syndrome, classic type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782649462 CA10560507 RCV000603570 RCV001229386 |
1526 | G>E | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA322417 RCV000720623 RCV000640797 rs782563345 RCV000659668 |
1532 | R>W | Connective tissue disorder Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000170416 rs786205194 |
1540 | L>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001269936 rs1603360542 RCV000787478 CA415214889 |
1554 | G>R | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002059032 RCV000250236 rs782484503 CA10560489 |
1557 | T>A | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000191086 CA250342 rs797045044 |
1576 | G>R | Periventricular nodular heterotopia 1 (pvnh1) Cardiac valvular dysplasia, X-linked [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000720714 CA10560465 rs782258746 |
1587 | P>S | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001232709 rs781789823 |
1608 | Y>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001771918 CA415214037 RCV000659669 rs1557177091 |
1615 | R>C | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000012528 rs863223298 |
1635 | R>missing | Otopalatodigital syndrome spectrum disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205197 RCV000170419 CA274741 |
1645 | C>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786205198 RCV000170420 |
1648 | T>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000170421 rs786205199 |
1674 | V>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA337276673 RCV001336376 rs781946233 |
1674 | V>A | Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782469665 CA10560398 RCV000690268 |
1687 | T>A | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626749 CA415208131 rs1461148946 |
1688 | V>G | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs782751731 CA10560396 RCV000719100 |
1688 | V>M | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782352193 CA337276632 COSM1466767 RCV000722508 COSM1466766 RCV001862119 |
1690 | T>M | Heterotopia, periventricular, X-linked dominant large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes dbSNP gnomAD |
|
rs2067650699 RCV001333940 |
1721 | V>missing | Oto-palato-digital syndrome, type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012534 CA121664 VAR_031312 rs137853316 |
1728 | G>C | FMD1 Otopalatodigital syndrome spectrum disorder [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000757308 rs782714867 RCV000720629 RCV001868373 CA10560350 |
1740 | A>V | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000714563 CA415206701 rs1557176526 |
1747 | S>L | FLNA related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1382076574 RCV000720969 CA415206466 |
1759 | P>A | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1382076574 RCV000659671 CA415206462 |
1759 | P>S | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001558240 RCV001260709 rs782269425 CA10560306 |
1826 | G>S | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10560294 RCV001266376 rs782307604 |
1845 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs782095418 RCV000476019 CA10560273 |
1864 | N>S | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001061715 rs1359141531 |
1920 | C>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310273 rs2067639563 |
1931 | D>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415198372 RCV000679986 rs1569551491 COSM1117923 |
1958 | M>L | endometrium FLNA related disorders [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000805414 CA10560207 rs10458342 |
1959 | R>C | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000532103 rs190712778 CA10560201 |
1971 | I>F | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA10560191 RCV000619888 rs782401919 RCV000871158 |
1993 | R>Q | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371616686 RCV001567508 CA10560192 RCV000721064 RCV001514074 |
1993 | R>W | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA415197022 rs1182812659 RCV001252500 |
2003 | R>H | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000702234 CA10560171 COSM3939877 COSM3939876 RCV000300291 rs781946802 |
2016 | T>M | Heterotopia, periventricular, X-linked dominant oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs782740450 RCV000788463 CA10560156 RCV001869207 |
2049 | R>C | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000718357 rs782779958 COSM1117913 RCV000726126 RCV001855201 COSM1117914 CA10560153 |
2059 | E>K | Heterotopia, periventricular, X-linked dominant endometrium History of neurodevelopmental disorder [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA415195229 RCV000582325 rs1557176102 |
2067 | E>K | Marfan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782069230 CA10560149 RCV000717509 RCV000537698 |
2073 | R>C | Heterotopia, periventricular, X-linked dominant History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371611462 CA10560147 RCV000640749 |
2074 | D>N | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001664498 rs782157246 RCV000864751 CA10560129 |
2080 | L>F | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs782722036 CA10560118 RCV000800317 |
2104 | V>I | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs786205201 RCV000170423 |
2119 | K>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332005 rs781999359 |
2124 | H>Q | Oto-palato-digital syndrome, type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640747 rs782400832 RCV000764862 CA10560110 |
2126 | P>S | Heterotopia, periventricular, X-linked dominant Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10560094 RCV000502222 RCV000686436 rs201396725 |
2132 | V>M | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000659674 COSM1117906 CA10560083 rs367655833 COSM1117905 |
2156 | V>I | Connective tissue disorder endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1603359205 RCV000984547 CA415191955 |
2160 | C>Y | Prune belly syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA415191365 rs1569551461 RCV000767338 |
2178 | V>L | Ehlers-Danlos syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786205202 CA274747 RCV000170424 |
2194 | E>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238854 rs2067626336 |
2196 | H>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858827 rs782621818 COSM3406140 CA10560062 RCV000996061 COSM3406139 |
2201 | R>C | Heterotopia, periventricular, X-linked dominant central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10560059 RCV000720814 rs782562592 RCV000657942 |
2203 | V>I | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000199583 rs786205178 RCV000170398 |
2212 | V>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984548 rs1603359091 CA415189747 |
2236 | G>E | Prune belly syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985242 rs1603359091 CA415189739 |
2236 | G>V | Prune belly syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000764861 CA206665 RCV000193289 rs797045581 RCV000660360 |
2240 | K>R | Heterotopia, periventricular, X-linked dominant Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000457271 CA16616627 RCV000728731 rs1060500717 |
2242 | R>* | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA337274538 rs953454766 RCV000640755 |
2243 | A>G | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1569551449 CA415187126 RCV000681483 |
2258 | E>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10560021 RCV000528311 rs782275601 RCV000764859 |
2288 | R>H | Heterotopia, periventricular, X-linked dominant Cardiac valvular dysplasia, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1557175878 RCV000640738 RCV000502889 CA415186278 |
2292 | S>F | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001587302 CA337274290 RCV001262957 rs201008265 |
2302 | P>S | Melnick-Needles syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781910090 CA256054 RCV000012519 |
2305 | Y>* | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002029943 CA325178 rs782084497 |
2322 | V>M | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781984348 CA245621 RCV002054117 RCV000178490 |
2333 | R>C | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA415185460 rs1603358919 RCV000995766 |
2341 | Q>* | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002062106 RCV000593962 CA10559962 rs782583650 |
2351 | A>G | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000204164 RCV000617376 CA348410 rs864622713 |
2353 | F>L | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000618836 CA323932 RCV000756178 RCV000721002 rs782739586 |
2356 | S>N | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA234011 VAR_076506 rs727503930 |
2391 | R>H | Periventricular nodular heterotopia 1 (pvnh1) OPD1; unknown pathological significance [Ensembl, UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000553794 CA10559936 rs202152952 |
2402 | I>T | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10559929 rs782289803 RCV000697313 RCV000619550 RCV000595937 |
2420 | V>A | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000606289 rs199677057 CA10559897 RCV000555130 |
2455 | S>R | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs878854464 RCV000231678 CA10583934 |
2465 | T>I | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624170 CA337272875 rs782190081 |
2485 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001853156 CA323904 rs863223626 RCV000723196 |
2507 | I>T | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000560750 CA10559870 rs782383611 |
2519 | P>S | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000473615 RCV002063674 CA10559865 rs782555930 |
2523 | S>N | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA415180992 rs1485769153 RCV001855278 RCV000620384 |
2526 | S>N | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1557175308 CA415180901 RCV000624290 |
2529 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000427375 rs1057520770 CA16609149 RCV001851053 |
2546 | Q>R | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1334045176 RCV000640731 CA415180238 |
2552 | P>L | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs377518545 RCV000640759 CA10559848 |
2580 | V>I | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000521545 rs1557175195 RCV000536029 |
2594 | V>missing | Heterotopia, periventricular, X-linked dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200883457 CA10559819 RCV000720366 |
2612 | R>Q | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000022819 CA259688 rs398122812 |
2632 | W>* | Periventricular nodular heterotopia 1 (pvnh1) Heterotopia, periventricular, X-linked dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA415255949 rs1391610154 |
2 | S>C | No |
ClinGen TOPMed |
|
|
rs1430045418 CA415255933 |
3 | S>G | No |
ClinGen TOPMed |
|
|
CA415255903 rs1557180291 |
5 | H>P | No |
ClinGen gnomAD |
|
|
rs782780394 CA10561477 |
6 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA415255893 rs941318584 |
7 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781814342 CA415255892 |
7 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781814342 CA10561475 |
7 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781814342 CA10561476 |
7 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941318584 CA337285541 |
7 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA415255886 rs1557180284 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA415255884 rs868939799 |
9 | G>D | No |
ClinGen Ensembl |
|
|
CA10561474 rs782292045 |
9 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1381994072 CA415255881 |
10 | Q>E | No |
ClinGen TOPMed |
|
|
CA415255878 rs781988041 |
10 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10561472 rs781988041 |
10 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782397616 CA10561471 |
11 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA415255871 rs782397616 |
11 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs868975259 CA415255861 |
12 | A>S | No |
ClinGen gnomAD |
|
|
rs868975259 CA415255867 |
12 | A>T | No |
ClinGen gnomAD |
|
|
CA415255843 rs1557180265 |
13 | A>V | No |
ClinGen gnomAD |
|
|
rs398123619 RCV000175695 |
15 | A>missing | No |
ClinVar dbSNP |
|
|
CA10561469 rs782034946 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557180259 CA415255812 |
16 | A>T | No |
ClinGen Ensembl |
|
|
CA415255798 rs1229353720 |
17 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV000423665 CA16608787 rs1057524770 |
17 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA415255796 rs1229353720 |
17 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415255788 rs1291341232 |
18 | G>S | No |
ClinGen TOPMed |
|
|
CA415255774 rs1557180253 |
19 | G>S | No |
ClinGen gnomAD |
|
|
rs1557180246 CA415255756 |
20 | G>A | No |
ClinGen gnomAD |
|
|
rs1557180247 CA415255761 |
20 | G>C | No |
ClinGen gnomAD |
|
|
rs1557180246 CA415255755 |
20 | G>V | No |
ClinGen gnomAD |
|
|
CA415255743 rs1247203858 |
21 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1223954254 CA415255748 |
21 | V>F | No |
ClinGen TOPMed |
|
|
CA415255742 rs1247203858 |
21 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10561466 rs782598729 |
22 | D>G | No |
ClinGen ExAC TOPMed |
|
|
CA10561467 rs782199446 |
22 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs782199446 CA415255734 |
22 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10561465 rs782244139 |
23 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337285505 rs1034838081 |
23 | T>M | No |
ClinGen TOPMed |
|
|
rs1164930154 CA415255706 |
24 | R>G | No |
ClinGen TOPMed |
|
|
rs1350949025 CA415255698 |
24 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415255704 rs1164930154 |
24 | R>W | No |
ClinGen TOPMed |
|
|
CA415255676 rs886038966 RCV000620420 |
26 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs782637786 CA10561464 |
26 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415255639 rs1603363939 |
28 | M>I | No |
ClinGen Ensembl |
|
|
CA415255610 rs1557180220 |
32 | E>K | No |
ClinGen gnomAD |
|
|
CA415255514 rs1557180215 |
38 | D>N | No |
ClinGen gnomAD |
|
|
CA415255455 rs1569551930 |
42 | K>R | No |
ClinGen Ensembl |
|
|
RCV001091832 rs2067802950 |
44 | I>M | No |
ClinVar dbSNP |
|
|
rs398123613 CA221696 |
45 | Q>R | No |
ClinGen Ensembl |
|
|
rs1557180206 RCV000498656 |
50 | T>missing | No |
ClinVar dbSNP |
|
|
rs1557180204 CA415255317 |
50 | T>M | No |
ClinGen gnomAD |
|
|
CA337285496 rs981888118 |
53 | C>W | No |
ClinGen Ensembl |
|
|
CA415255203 rs1569551928 |
56 | H>Q | No |
ClinGen Ensembl |
|
|
rs782769930 CA10561458 |
59 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1557180197 CA415255127 |
61 | S>N | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen gnomAD |
|
rs1557180196 CA415255042 |
66 | N>S | No |
ClinGen gnomAD |
|
|
CA415255048 rs1569551926 |
66 | N>Y | No |
ClinGen Ensembl |
|
|
CA415254950 rs1557180195 |
72 | S>N | No |
ClinGen gnomAD |
|
|
CA415254938 rs1557180192 RCV000521342 |
73 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782341272 CA10561453 |
86 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs782388981 CA10561450 |
93 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1569551921 CA415254529 |
98 | T>A | No |
ClinGen Ensembl |
|
|
CA10561449 rs782275257 |
110 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557180178 CA415254289 |
113 | F>S | No |
ClinGen Ensembl |
|
|
CA10561447 rs782298805 |
116 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1406549914 CA415254216 |
118 | S>N | No |
ClinGen TOPMed |
|
|
CA415251134 rs1603363301 |
128 | A>S | No |
ClinGen Ensembl |
|
|
CA10561413 rs782151307 |
130 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1085307783 RCV000489668 CA415251018 |
132 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415250944 rs1557179686 |
133 | N>K | No |
ClinGen gnomAD |
|
|
rs1569551877 CA415250863 |
137 | I>N | No |
ClinGen Ensembl |
|
|
RCV000620054 CA415250836 rs1557179684 |
139 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000427481 CA16608824 rs1057524784 |
142 | W>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000521507 rs1557179679 CA415250744 |
143 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415250429 rs863223640 |
154 | M>I | No |
ClinGen gnomAD |
|
|
rs863223640 RCV000199904 CA324452 |
154 | M>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA10561407 rs782240483 |
154 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA415250398 rs1557179668 |
155 | W>S | No |
ClinGen Ensembl |
|
|
CA415250066 rs1569551875 |
163 | A>T | No |
ClinGen Ensembl |
|
|
CA415250007 rs1569551874 |
165 | K>R | No |
ClinGen Ensembl |
|
|
RCV000196613 CA321035 rs863223641 |
167 | T>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA415249497 rs1557179655 |
179 | K>N | No |
ClinGen Ensembl |
|
|
rs863223629 CA320493 RCV000196084 |
181 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415249273 rs1453108649 |
189 | S>N | No |
ClinGen TOPMed |
|
|
CA415249239 rs1287150584 |
190 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA337284394 rs113386840 |
192 | W>* | No |
ClinGen Ensembl |
|
|
CA415249154 rs1557179638 |
194 | S>N | No |
ClinGen gnomAD |
|
|
CA415249122 COSM1315350 COSM1315351 rs1569551872 |
196 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs868983427 CA415249105 |
197 | A>V | No |
ClinGen Ensembl |
|
|
CA16621258 RCV000480667 rs1064796798 |
206 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1603363256 CA415248968 |
207 | P>S | No |
ClinGen Ensembl |
|
|
rs1057518109 RCV000412807 CA16043290 |
211 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415248892 rs1557179603 |
217 | D>N | No |
ClinGen gnomAD |
|
|
CA415248883 rs782580503 |
218 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10561381 rs782580503 |
218 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782425251 CA337284253 |
222 | V>I | No |
ClinGen gnomAD |
|
|
CA415248831 rs1569551861 |
226 | R>* | No |
ClinGen Ensembl |
|
|
RCV000359558 rs886044820 CA10604670 |
229 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1238342421 CA415248793 |
231 | Q>R | No |
ClinGen TOPMed |
|
|
RCV001310758 rs2067772652 |
235 | W>* | No |
ClinVar dbSNP |
|
|
rs868978893 CA415248749 |
237 | G>D | No |
ClinGen Ensembl |
|
|
CA415248741 rs1557179587 |
238 | I>M | No |
ClinGen gnomAD |
|
|
CA246036 RCV000178845 rs797044753 |
245 | E>K | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs782549209 CA10561362 |
247 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA337284116 rs61730766 |
256 | S>F | No |
ClinGen Ensembl |
|
|
CA10561356 rs782157170 |
269 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10561355 rs184188371 |
276 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172505050 CA415248429 |
276 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1557179540 CA415248413 RCV000620679 |
277 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782705152 CA10561354 |
277 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1041066623 CA337284108 |
281 | P>L | No |
ClinGen Ensembl |
|
|
rs1557179536 CA415248312 |
285 | R>C | No |
ClinGen Ensembl |
|
|
rs863223642 RCV000197453 CA321917 |
285 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415248172 rs1557179419 |
292 | E>K | No |
ClinGen gnomAD |
|
|
rs200084085 CA337283807 |
295 | G>C | No |
ClinGen 1000Genomes |
|
|
RCV000243362 rs886038987 |
296 | N>missing | No |
ClinVar dbSNP |
|
|
CA10561333 rs782309946 |
296 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1569551850 CA415248045 |
297 | M>I | No |
ClinGen Ensembl |
|
|
rs1557179407 RCV000522773 CA415248056 |
297 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415248013 rs781943363 |
300 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA10561331 rs781943363 |
300 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10561329 rs371600068 |
301 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371600068 CA10561330 |
301 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA246631 rs192609440 |
301 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415247879 rs1557179396 |
306 | V>L | No |
ClinGen gnomAD |
|
|
CA10561327 rs782184460 |
310 | S>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000788402 rs1603362983 CA415247671 |
316 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA337283788 rs1064816 VAR_012831 |
320 | V>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA415247599 rs1064816 |
320 | V>G | No |
ClinGen Ensembl |
|
|
rs781889196 CA10561323 |
320 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10561322 rs371830740 RCV000419413 |
323 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA415247537 rs1603362970 |
324 | A>D | No |
ClinGen Ensembl |
|
|
rs782724892 CA10561318 |
325 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342130392 CA415247476 |
328 | E>K | No |
ClinGen TOPMed |
|
|
CA10561300 rs782129085 |
330 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA10561301 rs782129085 |
330 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs886044859 RCV000725907 CA10605588 RCV000361495 |
334 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA415247291 rs1453222180 |
335 | N>S | No |
ClinGen TOPMed |
|
|
CA10561298 rs782696220 |
337 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA658659068 rs1557179357 |
337 | D>R | No |
ClinGen Ensembl |
|
|
rs782072827 CA10561297 |
340 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs371368679 CA10561296 |
340 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000518334 rs1557179349 |
343 | S>missing | No |
ClinVar dbSNP |
|
|
rs782234539 CA10561293 |
347 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1287585684 CA415247012 |
351 | T>M | No |
ClinGen TOPMed |
|
|
rs782602290 CA10561289 |
352 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs377178031 CA10561290 |
352 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA415246974 rs1489530369 |
354 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782505008 CA10561288 |
355 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1557179289 CA415246757 |
363 | Q>L | No |
ClinGen gnomAD |
|
|
rs782626375 CA10561264 |
364 | H>R | No |
ClinGen ExAC |
|
|
rs376891541 CA10561262 |
365 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1117968 rs781805670 CA10561259 COSM1117969 |
366 | A>T | Periventricular nodular heterotopia 1 (pvnh1) endometrium [Ensembl, Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1029103588 CA337283684 |
369 | P>A | No |
ClinGen Ensembl |
|
|
CA10561257 rs782098882 |
370 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA337283676 VAR_012832 rs1064817 |
370 | F>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1557179279 CA415246627 |
371 | E>K | No |
ClinGen gnomAD |
|
|
CA10561255 rs782764103 |
372 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs781848457 CA10561256 |
372 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA415246583 rs1557179275 |
373 | Y>C | No |
ClinGen gnomAD |
|
|
rs782331362 CA10561252 |
375 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782331362 CA415244603 |
375 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603362871 RCV001008230 |
378 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1176462315 CA415244559 |
378 | Q>R | No |
ClinGen TOPMed |
|
|
rs781972297 CA415244520 |
380 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781984427 CA10561249 |
381 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782140282 CA10561248 |
387 | Q>L | No |
ClinGen ExAC |
|
|
rs199766573 CA10561244 |
390 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371936356 CA10561243 |
394 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10561241 rs782470457 |
397 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA415244210 rs782633612 |
398 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782633612 CA10561240 |
398 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782816272 CA10561238 |
401 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA10561236 rs781827791 |
408 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA415244019 rs1557179239 |
411 | A>T | No |
ClinGen gnomAD |
|
|
rs782549299 CA206360 RCV000193102 RCV000620258 |
413 | T>M | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA415243999 rs1557179234 |
414 | G>D | No |
ClinGen gnomAD |
|
|
CA10561220 rs782502962 |
415 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782788214 CA10561218 |
416 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337283564 rs367639317 |
417 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1557179223 CA415243974 |
418 | V>A | No |
ClinGen gnomAD |
|
|
CA337283558 rs1053199573 |
418 | V>F | No |
ClinGen gnomAD |
|
|
rs1053199573 CA415243977 |
418 | V>I | No |
ClinGen gnomAD |
|
|
CA415243966 rs1320946768 |
420 | I>L | No |
ClinGen TOPMed |
|
|
CA415243960 rs1351119633 |
420 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10561215 rs782702517 |
423 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10561213 rs781951154 |
424 | M>T | No |
ClinGen ExAC |
|
|
CA415243918 rs1340267724 |
427 | K>Q | No |
ClinGen TOPMed |
|
|
CA415243906 rs912205424 |
428 | G>D | No |
ClinGen TOPMed |
|
|
rs912205424 CA337283534 |
428 | G>V | No |
ClinGen TOPMed |
|
|
CA285476 VAR_069803 rs36051194 |
429 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372706944 CA10561211 |
429 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782291426 CA10561209 |
430 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557179208 CA415243901 |
430 | V>I | No |
ClinGen gnomAD |
|
|
CA323321 rs781915319 |
431 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415243884 rs1557179204 |
432 | P>L | No |
ClinGen gnomAD |
|
|
CA415243877 rs1557179203 |
433 | Q>H | No |
ClinGen gnomAD |
|
|
rs1222206349 CA415243874 |
434 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415243862 rs1557179196 |
436 | A>T | No |
ClinGen gnomAD |
|
|
rs782320818 COSM1466803 COSM1466802 CA10561208 RCV000594598 |
437 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA324868 rs863223644 |
437 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA415243841 rs1161164281 |
439 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA337283519 rs963606772 |
439 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782649138 CA10561206 |
440 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA415243836 rs782649138 |
440 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10561205 rs782673341 |
443 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782282149 CA10561204 |
443 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1557179178 RCV000520699 CA415243813 |
444 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10561203 rs782685505 |
445 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA415243775 rs1557179169 |
449 | T>A | No |
ClinGen gnomAD |
|
|
rs1304244536 CA415243773 |
449 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA415243757 rs1557179163 |
451 | E>A | No |
ClinGen gnomAD |
|
|
CA415243750 rs1557179160 |
452 | G>S | No |
ClinGen gnomAD |
|
|
RCV000417668 CA16608339 rs1057521615 |
456 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA320844 rs782495199 COSM1207221 |
456 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA415243721 rs1557179149 |
457 | H>Y | No |
ClinGen Ensembl |
|
|
CA208448 rs782791907 |
458 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1244330871 CA415243709 |
459 | T>A | No |
ClinGen TOPMed |
|
|
rs375463904 CA10561198 |
459 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415243705 rs1358539669 |
460 | F>I | No |
ClinGen TOPMed |
|
|
CA415243697 rs1557179142 |
461 | A>T | No |
ClinGen gnomAD |
|
|
CA10561195 rs782063907 |
462 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415243685 rs782373438 |
463 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10561193 rs782373438 |
463 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415243665 rs1441688181 |
466 | P>L | No |
ClinGen TOPMed |
|
|
CA415243666 rs1263621847 |
466 | P>S | No |
ClinGen TOPMed |
|
|
rs782022718 CA10561191 |
467 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs782588986 CA10561188 |
471 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557179125 CA415243611 |
475 | G>D | No |
ClinGen gnomAD |
|
|
CA415243563 rs782168634 |
480 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782682232 CA337283364 |
480 | P>S | No |
ClinGen Ensembl |
|
|
CA10561171 rs782324154 |
481 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10561170 rs782088088 |
483 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs782262202 CA10561168 |
485 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA415243529 rs1557179006 |
486 | V>F | No |
ClinGen gnomAD |
|
|
rs1557179006 CA415243531 |
486 | V>I | No |
ClinGen gnomAD |
|
|
CA415243516 rs1315056698 |
488 | R>Q | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs201092184 CA10561165 |
491 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415243484 COSM356607 rs1557179001 |
493 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10561161 rs782653547 |
495 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10561162 rs782653547 |
495 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782653547 CA415243476 |
495 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs868994092 CA415243471 COSM1207225 |
496 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs199980036 CA337283313 |
505 | V>L | No |
ClinGen Ensembl |
|
|
rs1557178990 CA415243375 |
510 | A>D | No |
ClinGen gnomAD |
|
|
rs782698277 CA10561159 |
510 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782698277 CA10561158 |
510 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000722349 rs1569551810 |
510 | A>missing | No |
ClinVar dbSNP |
|
|
rs782072585 CA10561157 |
513 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10561155 rs782765195 |
514 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415243322 rs1216905170 |
518 | T>I | No |
ClinGen TOPMed |
|
|
rs938952718 CA337283284 |
519 | V>M | No |
ClinGen gnomAD |
|
|
CA231097 rs202029322 |
527 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143873938 CA415243253 |
528 | V>L | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA16616632 rs143873938 |
528 | V>L | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10561143 rs782199058 |
529 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782484602 CA10561141 |
530 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA415243217 rs1196767195 |
533 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10561140 rs781850599 |
534 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10561139 rs782321294 |
535 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782067087 CA415243197 |
537 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782067087 CA10561135 |
537 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557178932 CA415243188 |
538 | Y>C | No |
ClinGen gnomAD |
|
|
CA415243180 rs863223618 |
539 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs743546 CA337283196 |
541 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782424531 CA10561131 |
541 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs743546 CA325389 |
541 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs743546 CA10561132 |
541 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41304984 CA337283189 |
543 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs1354622097 CA415243147 |
544 | P>H | No |
ClinGen TOPMed |
|
|
rs1354622097 CA415243146 |
544 | P>R | No |
ClinGen TOPMed |
|
|
CA10561129 rs781947830 |
545 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA415243143 rs1443563081 |
545 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs898196892 CA337283183 |
547 | P>S | No |
ClinGen Ensembl |
|
|
rs1557178911 CA415243117 |
549 | T>S | No |
ClinGen gnomAD |
|
|
CA415243112 rs1557178908 |
550 | Y>H | No |
ClinGen gnomAD |
|
|
rs375638897 CA10561128 |
551 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365905984 CA415243102 |
551 | I>V | No |
ClinGen TOPMed |
|
|
CA415243094 rs730319 VAR_012833 |
552 | V>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA321028 rs863223619 |
552 | V>I | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA10561125 rs782611953 |
555 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782611953 CA415243077 |
555 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10561127 rs782206271 |
555 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557178897 CA415243064 |
557 | G>D | No |
ClinGen gnomAD |
|
|
rs1557178893 CA415243047 |
560 | N>H | No |
ClinGen gnomAD |
|
|
CA10561121 rs781806203 COSM302250 |
562 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10561119 rs782477178 |
563 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10561094 RCV000621558 rs781830848 |
566 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1160888270 CA415242870 COSM3800497 COSM3800498 |
567 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA415242852 rs1386559672 |
568 | V>M | No |
ClinGen TOPMed |
|
|
CA415242840 rs1557178846 |
569 | K>E | No |
ClinGen gnomAD |
|
|
rs1164839784 CA415242776 |
572 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1164839784 CA415242778 |
572 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415242764 rs1557178841 |
573 | E>A | No |
ClinGen gnomAD |
|
|
rs1399359867 CA415242772 |
573 | E>K | No |
ClinGen TOPMed |
|
|
CA10561091 rs782782483 |
574 | C>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000483381 rs1064795854 |
579 | V>missing | No |
ClinVar dbSNP |
|
|
CA415242661 rs1320726395 |
579 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415242540 rs1447594194 |
587 | E>* | No |
ClinGen TOPMed |
|
|
rs782079876 CA10561087 |
588 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1117964 COSM1117965 rs782371876 CA10561085 |
589 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA415242504 rs1351197959 |
590 | V>G | No |
ClinGen TOPMed |
|
|
RCV000199201 rs782776511 CA323733 |
590 | V>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM488163 CA325283 rs200673062 COSM1117963 |
591 | V>I | kidney large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1557178817 CA415242462 |
593 | K>M | No |
ClinGen gnomAD |
|
|
CA415242457 rs1557178815 |
593 | K>N | No |
ClinGen gnomAD |
|
|
rs782196279 CA10561083 |
596 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs1603362453 CA415242358 |
599 | V>E | No |
ClinGen Ensembl |
|
|
rs781861830 CA10561080 |
600 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10561079 rs782655899 |
601 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM50269 RCV000619725 COSM1466801 CA415242304 rs200116438 |
603 | G>W | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA415242298 rs1184716707 |
604 | D>H | No |
ClinGen TOPMed |
|
|
rs201093148 RCV000196132 COSM457105 CA320550 COSM1490685 RCV000514558 |
605 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA415242230 rs1557178797 |
607 | G>D | No |
ClinGen gnomAD |
|
|
CA415242204 rs1603362434 |
608 | T>M | No |
ClinGen Ensembl |
|
|
rs782193139 CA274726 |
617 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782495413 CA10561061 |
618 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415241903 rs1557178769 |
625 | D>N | No |
ClinGen gnomAD |
|
|
rs782534475 CA10561057 |
628 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA415241830 rs1431672096 |
629 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10561054 rs111516546 |
634 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415241734 rs1329514459 |
635 | Y>C | No |
ClinGen TOPMed |
|
|
CA10561048 rs782178831 |
642 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1557178755 RCV000658101 CA415241506 |
649 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA337282964 rs924628127 |
650 | N>K | No |
ClinGen Ensembl |
|
|
CA10561043 rs782043699 |
652 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249111377 CA415241424 |
653 | D>G | No |
ClinGen TOPMed |
|
|
rs376867823 CA10561042 |
655 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782563602 CA10561041 |
655 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557178745 CA415241307 |
660 | M>I | No |
ClinGen gnomAD |
|
|
rs782510387 CA10561039 |
660 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA415241244 rs1197657235 |
664 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA415241240 rs1271495778 |
664 | R>H | No |
ClinGen TOPMed |
|
|
rs374295965 CA10561035 |
666 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782166620 CA10561036 |
666 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10561037 rs782166620 COSM1466798 COSM1466797 |
666 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10561034 rs374295965 |
666 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337282952 rs781817798 |
667 | P>L | No |
ClinGen Ensembl |
|
|
rs1603362336 CA415241178 |
668 | Q>R | No |
ClinGen Ensembl |
|
|
CA415241168 rs1389865253 |
669 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1311379577 CA415239119 |
677 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415239114 rs1311379577 |
677 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA415239095 RCV000498535 rs1380007907 |
678 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA337282364 rs924631524 COSM3694209 COSM3694210 |
678 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA415239045 rs1244390170 |
680 | P>S | No |
ClinGen TOPMed |
|
|
CA415238965 rs1294632938 RCV000996068 |
683 | E>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA415238867 rs1360829798 |
686 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs782116160 CA10561018 |
689 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781870099 CA10561017 |
690 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782791232 CA10561016 |
692 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782158357 CA10561015 |
693 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781942051 CA10561014 |
694 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10561010 rs781988346 COSM1733423 COSM1733424 |
702 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1242596098 CA415238426 |
706 | P>S | No |
ClinGen TOPMed |
|
|
rs371707134 CA322638 |
708 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415238372 rs1603362269 |
710 | Q>K | No |
ClinGen Ensembl |
|
|
CA10560999 rs782697176 RCV000723246 |
716 | G>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA415238201 RCV000788383 rs1603362239 |
719 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782084883 CA10560998 |
720 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000727059 rs781840723 CA324365 |
721 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10560995 rs782024317 |
724 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1460177575 CA415238049 |
727 | G>S | No |
ClinGen TOPMed |
|
|
rs375038091 CA10560993 |
728 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560992 rs782330533 |
729 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs863223630 RCV000195861 |
731 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1557178619 CA415237924 |
734 | S>F | No |
ClinGen gnomAD |
|
|
CA415237912 rs1603362223 |
735 | Y>C | No |
ClinGen Ensembl |
|
|
rs781979188 CA10560991 |
736 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA415237896 COSM422180 rs1409855324 |
736 | V>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA415237881 rs1557178618 |
737 | P>S | No |
ClinGen gnomAD |
|
|
CA415237869 rs782391713 |
738 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782278974 CA10560989 |
740 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560987 rs782439081 |
741 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415237783 rs1557178613 |
743 | H>Y | No |
ClinGen gnomAD |
|
|
CA415237736 rs1336740117 |
745 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1336740117 CA415237741 |
745 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA415237728 rs1557178609 |
745 | A>V | No |
ClinGen gnomAD |
|
|
CA10560985 rs782626976 |
747 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA415237691 rs1557178607 |
749 | W>R | No |
ClinGen gnomAD |
|
|
rs782278871 CA337282277 |
750 | G>R | No |
ClinGen Ensembl |
|
|
rs863223631 RCV000198088 |
752 | V>HPEG | No |
ClinVar dbSNP |
|
|
CA415237663 rs1375945568 |
753 | S>N | No |
ClinGen TOPMed |
|
|
CA415237656 RCV000762688 rs1569551769 |
754 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557178599 CA415237647 |
755 | P>R | No |
ClinGen Ensembl |
|
|
rs781874902 CA10560983 |
756 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1283071070 CA415237622 |
759 | F>L | No |
ClinGen TOPMed |
|
|
CA10560962 rs375898586 |
761 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140729313 CA10560961 |
764 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs140729313 CA337281882 |
764 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA415237574 rs1557178380 |
765 | A>T | No |
ClinGen gnomAD |
|
|
rs1557178378 CA415237569 |
765 | A>V | No |
ClinGen gnomAD |
|
|
CA415237557 rs1557178377 |
767 | S>I | No |
ClinGen gnomAD |
|
|
CA10560959 rs782583629 |
769 | P>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000610425 rs202109957 CA10560957 |
770 | N>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA16616653 rs1060500719 |
773 | K>N | No |
ClinGen TOPMed |
|
|
rs1057515583 RCV000336798 |
774 | V>missing | No |
ClinVar dbSNP |
|
|
rs863223637 CA415237490 |
777 | P>L | No |
ClinGen gnomAD |
|
|
RCV000198332 rs863223637 CA322832 |
777 | P>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA337281863 rs943109119 |
779 | V>I | No |
ClinGen gnomAD |
|
|
rs943109119 CA415237482 |
779 | V>L | No |
ClinGen gnomAD |
|
|
RCV000348703 rs1057515582 |
781 | K>missing | No |
ClinVar dbSNP |
|
|
rs782157663 CA10560952 |
784 | L>F | No |
ClinGen ExAC |
|
|
CA415237377 rs1557178354 RCV000497315 |
786 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000196596 CA321022 rs863223620 |
787 | H>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA415237356 rs1332167966 |
787 | H>Y | No |
ClinGen TOPMed |
|
|
rs911403388 CA337281848 |
788 | E>K | No |
ClinGen gnomAD |
|
|
rs201331927 CA10560950 |
789 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1064795350 RCV000479429 |
790 | T>missing | No |
ClinVar dbSNP |
|
|
COSM1117959 COSM1117960 CA10560947 rs782454177 |
798 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA325253 rs374130804 |
804 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415237000 rs1557178305 |
805 | S>G | No |
ClinGen gnomAD |
|
|
rs781939268 CA10560927 |
807 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10560926 rs782348851 |
808 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs782383908 CA10560924 |
812 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781980543 CA10560925 |
812 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1651042 COSM611824 rs782276414 CA10560923 |
813 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA240862 rs200053635 |
817 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560920 rs782591945 COSM1207223 |
818 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1557178280 CA415236675 |
819 | E>Q | No |
ClinGen gnomAD |
|
|
CA415236616 rs1557178279 |
821 | D>E | No |
ClinGen gnomAD |
|
|
rs782555729 CA10560916 |
825 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000482285 CA10560915 rs371361696 |
827 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1117956 CA415236394 COSM1117955 rs1557178272 |
828 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1347740802 CA415236386 |
828 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs782717571 CA10560914 |
829 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782470966 CA10560913 |
830 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1201599460 CA415236321 |
831 | N>H | No |
ClinGen TOPMed |
|
|
CA337281741 rs901545796 |
831 | N>K | No |
ClinGen Ensembl |
|
|
RCV000193730 CA207414 rs782315127 |
835 | T>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10560908 rs782050553 |
839 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320822 rs201603843 |
839 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560905 rs201451383 |
841 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782772998 CA10560906 |
841 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415235981 rs1557178241 |
842 | G>R | No |
ClinGen gnomAD |
|
|
CA10560904 rs782402900 |
843 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560902 rs782293882 |
846 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA415235762 rs1557178235 |
849 | M>T | No |
ClinGen gnomAD |
|
|
rs1557178233 CA415235653 |
853 | A>T | No |
ClinGen gnomAD |
|
|
rs1488268931 CA415235462 |
857 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782396558 CA10560882 |
862 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557178198 CA415233586 |
864 | V>F | No |
ClinGen gnomAD |
|
|
CA415233561 rs1269534273 |
867 | E>D | No |
ClinGen TOPMed |
|
|
RCV000424847 CA16609151 rs1057524473 |
870 | H>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs185503240 CA10560879 |
872 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377046577 CA415233448 |
877 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560878 rs377046577 |
877 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377046577 CA10560877 |
877 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294974705 CA415233354 |
883 | S>N | No |
ClinGen TOPMed |
|
|
rs201523624 CA415233338 |
884 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201523624 CA337281618 |
884 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA337281617 rs979539410 |
885 | T>A | No |
ClinGen TOPMed |
|
|
rs1156296397 CA415233236 |
887 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782580568 CA10560858 |
888 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs782485771 CA10560857 |
889 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1459255199 CA415233179 |
891 | K>E | No |
ClinGen TOPMed |
|
|
rs1321859695 CA415233102 |
896 | T>I | No |
ClinGen TOPMed |
|
|
CA415232905 rs1557178152 |
909 | V>A | No |
ClinGen gnomAD |
|
|
CA337281588 rs199911951 |
909 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782140888 CA10560855 |
912 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781880035 CA10560854 |
913 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10560853 rs782806218 |
914 | L>F | No |
ClinGen ExAC |
|
|
rs781936113 CA10560851 |
916 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000175416 rs398123614 CA221702 |
921 | R>* | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs782334371 CA10560850 |
921 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415232761 rs1557178146 |
922 | D>N | No |
ClinGen gnomAD |
|
|
rs1557178145 CA415232706 |
924 | D>G | No |
ClinGen gnomAD |
|
|
CA415232685 rs1557178143 |
925 | I>F | No |
ClinGen gnomAD |
|
|
rs782296131 CA10560846 |
927 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415232570 rs1209463656 |
928 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1331375037 CA415232579 |
928 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA415232546 rs1569551734 |
929 | H>P | No |
ClinGen Ensembl |
|
|
rs190437842 CA10560844 |
931 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557178130 CA415232396 |
934 | T>A | No |
ClinGen gnomAD |
|
|
CA415232254 rs1603361677 |
939 | P>L | No |
ClinGen Ensembl |
|
|
rs1431914796 CA415232020 |
943 | G>D | No |
ClinGen TOPMed |
|
|
rs782563238 CA10560821 |
943 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10560820 rs782451202 |
944 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415231995 rs1557178093 |
944 | P>S | No |
ClinGen gnomAD |
|
|
CA10560819 rs782211275 |
946 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs372718245 RCV000198619 CA323149 |
948 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA323120 rs201656372 |
949 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557178088 CA415231832 |
950 | T>I | No |
ClinGen gnomAD |
|
|
rs782450052 CA10560816 |
953 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337281414 rs1027306386 |
953 | G>R | No |
ClinGen gnomAD |
|
|
CA337281409 rs377308299 |
955 | P>L | No |
ClinGen Ensembl |
|
|
CA415231683 rs1557178081 |
957 | P>S | No |
ClinGen gnomAD |
|
|
rs782104597 CA10560813 |
959 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560814 rs782104597 |
959 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415231638 rs1557178079 |
960 | P>A | No |
ClinGen gnomAD |
|
|
rs781988109 CA10560812 |
961 | F>L | No |
ClinGen ExAC |
|
|
CA10560811 rs782774089 |
964 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415231549 rs1557178074 |
966 | S>F | No |
ClinGen gnomAD |
|
|
rs782136339 CA10560810 |
969 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10560809 rs782026572 |
970 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs375495397 CA321868 |
975 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10560808 rs782313822 |
979 | L>V | No |
ClinGen ExAC |
|
|
CA337281387 rs782755538 |
981 | E>D | No |
ClinGen TOPMed |
|
|
rs1557178050 CA415231233 RCV000520246 |
982 | K>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10560796 rs781839680 |
983 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10560795 rs782513930 RCV000731636 |
984 | D>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782804253 CA10560792 |
985 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs781884864 CA10560793 |
985 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415231155 rs1557178046 |
987 | K>R | No |
ClinGen gnomAD |
|
|
rs1557178045 CA415231130 |
989 | Q>K | No |
ClinGen Ensembl |
|
|
CA10560790 rs3819330 |
994 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782099443 CA10560788 |
998 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA325375 rs863223621 |
999 | G>D | No |
ClinGen Ensembl |
|
|
rs1364359427 CA415230764 |
1012 | S>A | No |
ClinGen TOPMed |
|
|
rs17091204 CA285479 VAR_031310 |
1012 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782322036 CA10560784 |
1015 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886044871 CA10605801 RCV000273743 |
1018 | C>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415230616 rs1557178024 |
1020 | V>A | No |
ClinGen gnomAD |
|
|
CA415230559 rs1569551724 |
1023 | G>V | No |
ClinGen Ensembl |
|
|
rs944580502 CA337281283 |
1025 | G>W | No |
ClinGen Ensembl |
|
|
rs782374416 CA10560783 |
1027 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10560778 rs782601089 |
1035 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10560776 rs781844419 |
1036 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782758177 CA10560775 |
1036 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560774 rs782136836 |
1037 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1187268269 CA415230375 |
1038 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781890223 CA10560773 |
1040 | P>L | No |
ClinGen ExAC |
|
|
CA10560771 rs782052055 |
1042 | E>K | No |
ClinGen ExAC |
|
|
CA10560770 rs781954318 |
1043 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA415230283 rs1475916528 |
1043 | V>L | No |
ClinGen TOPMed |
|
|
CA337281219 rs951966578 |
1049 | G>S | No |
ClinGen gnomAD |
|
|
rs1057524317 CA16608780 RCV000418276 |
1050 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000176183 rs398123616 |
1052 | V>missing | No |
ClinVar dbSNP |
|
|
rs782333540 CA10560765 |
1052 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782333540 CA10560764 |
1052 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782614645 CA10560762 |
1058 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455557557 CA415229924 |
1058 | P>S | No |
ClinGen TOPMed |
|
|
rs782517296 CA10560761 RCV000523817 |
1062 | V>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA415229792 rs1446934891 |
1065 | T>S | No |
ClinGen TOPMed |
|
|
rs1557178000 CA415229774 |
1066 | K>E | No |
ClinGen gnomAD |
|
|
rs1027738208 CA337281171 |
1068 | S>G | No |
ClinGen gnomAD |
|
|
rs1603361255 CA415229488 |
1072 | A>V | No |
ClinGen Ensembl |
|
|
RCV000620287 CA10560743 rs782406278 |
1075 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA415229435 rs1336237133 RCV000757310 |
1075 | P>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000198980 rs863223638 CA323521 |
1077 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415229335 rs1557177804 |
1079 | G>E | No |
ClinGen gnomAD |
|
|
rs1557177803 CA415229300 |
1080 | G>A | No |
ClinGen gnomAD |
|
|
rs782561908 CA10560741 |
1081 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415229265 rs1214073667 |
1082 | A>T | No |
ClinGen TOPMed |
|
|
rs1244259022 CA415229251 |
1082 | A>V | No |
ClinGen TOPMed |
|
|
CA415229215 rs1557177797 |
1084 | S>F | No |
ClinGen gnomAD |
|
|
rs1475845645 CA415229206 |
1085 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10560738 rs782632029 |
1086 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369668866 CA10560737 |
1087 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560736 rs372827142 |
1091 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10560735 rs781797118 |
1092 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415228973 rs1557177790 |
1094 | G>D | No |
ClinGen gnomAD |
|
|
CA10560733 rs781864297 |
1095 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560732 rs782149159 |
1096 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1300668999 CA415228879 |
1097 | T>A | No |
ClinGen TOPMed |
|
|
rs782307520 CA10560730 |
1100 | L>R | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA10560731 rs782032607 |
1100 | L>V | No |
ClinGen ExAC |
|
|
CA321289 rs781970327 RCV000196871 |
1103 | T>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA221709 rs371677498 |
1108 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1466788 COSM1466787 CA415228516 rs1222602089 |
1113 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA415228456 rs1557177774 |
1114 | C>S | No |
ClinGen gnomAD |
|
|
CA242192 rs797044684 RCV000723973 |
1116 | D>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA415228353 rs1209865046 |
1117 | N>S | No |
ClinGen TOPMed |
|
|
rs368441729 RCV000304105 CA10560723 |
1123 | S>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782361719 CA337280761 RCV000617508 RCV001002453 |
1123 | S>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000840194 rs781842942 CA10560721 |
1124 | V>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs398123617 CA221712 |
1127 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337280741 rs782084316 |
1128 | P>S | No |
ClinGen 1000Genomes |
|
|
CA10560719 rs781896973 |
1129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs377271979 CA10560718 |
1129 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560716 rs782723195 |
1130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10560713 rs782404635 |
1135 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1557177756 CA415227907 |
1135 | N>I | No |
ClinGen Ensembl |
|
|
rs782395522 CA10560712 |
1136 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000196857 rs863223645 |
1137 | N>missing | No |
ClinVar dbSNP |
|
|
CA10560711 rs781917166 |
1137 | N>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000489979 rs782318545 CA10560710 |
1138 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs782633080 CA10560708 |
1139 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415227757 rs782633080 |
1139 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306841450 RCV000788348 CA415227736 |
1140 | F>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA323558 rs201908251 |
1141 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218996055 CA415227561 |
1145 | I>V | No |
ClinGen TOPMed |
|
|
rs782586514 CA10560703 |
1150 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10560702 rs370489845 |
1152 | A>T | No |
ClinGen ESP ExAC |
|
|
CA415227390 rs1557177751 |
1152 | A>V | No |
ClinGen Ensembl |
|
|
rs1278723478 CA415227378 |
1153 | H>Y | No |
ClinGen TOPMed |
|
|
CA415227335 rs1557177750 |
1154 | V>M | No |
ClinGen gnomAD |
|
|
rs1350290450 CA415227291 |
1155 | V>F | No |
ClinGen TOPMed |
|
|
CA10560701 rs781852888 |
1157 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs782793542 CA10560700 |
1162 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10560699 rs782525912 |
1164 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557177744 CA415226937 |
1165 | C>Y | No |
ClinGen gnomAD |
|
|
CA415226781 rs1557177743 |
1172 | R>G | No |
ClinGen gnomAD |
|
|
RCV000756181 rs782694926 CA10560697 |
1172 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1557177743 CA415226779 |
1172 | R>W | No |
ClinGen gnomAD |
|
|
rs370202395 CA415226715 RCV000498417 |
1175 | A>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs370202395 CA10560695 |
1175 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781924230 CA10560689 |
1198 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA10560687 rs201810442 |
1201 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs376726422 CA10560685 |
1204 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs863223622 CA320160 |
1206 | E>G | No |
ClinGen Ensembl |
|
|
rs782670467 CA10560683 |
1206 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10560682 rs782447772 |
1211 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs782721742 CA10560680 |
1212 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA10587968 RCV000245693 rs886038999 |
1213 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557177704 CA415223775 |
1213 | G>S | No |
ClinGen gnomAD |
|
|
rs782482207 CA10560679 |
1215 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10560678 rs781861717 |
1216 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1235523285 CA415223649 |
1217 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10560676 rs782148392 |
1217 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA920450385 rs868977751 |
1223 | P>F | No |
ClinGen Ensembl |
|
|
rs1060500716 CA16616451 |
1223 | P>L | No |
ClinGen Ensembl |
|
|
CA415223489 rs1557177694 |
1223 | P>S | No |
ClinGen gnomAD |
|
|
rs1557177690 CA415223451 |
1224 | L>F | No |
ClinGen Ensembl |
|
|
CA415223387 rs1557177689 |
1228 | A>T | No |
ClinGen gnomAD |
|
|
rs1191721014 CA415223286 |
1231 | V>I | No |
ClinGen TOPMed |
|
|
CA10560671 rs782495669 |
1232 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187714029 CA415223180 |
1234 | K>R | No |
ClinGen TOPMed |
|
|
rs782173046 CA10560668 |
1238 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1557177677 CA415223030 |
1239 | P>S | No |
ClinGen gnomAD |
|
|
rs956926810 CA337279944 |
1241 | P>L | No |
ClinGen Ensembl |
|
|
rs782538253 CA10560666 |
1252 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415222691 rs1557177671 |
1255 | T>N | No |
ClinGen gnomAD |
|
|
rs1557177666 CA415222672 |
1256 | S>C | No |
ClinGen gnomAD |
|
|
CA10560662 rs782679657 |
1257 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10560663 rs781896277 |
1257 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557177663 RCV000497491 CA415222631 |
1259 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10560650 rs782674054 |
1271 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1462486329 CA415222367 |
1274 | A>V | No |
ClinGen TOPMed |
|
|
rs782428187 CA10560649 |
1276 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415222348 rs1383318856 |
1276 | T>S | No |
ClinGen TOPMed |
|
|
CA10560645 rs782466840 |
1282 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415222258 rs1231515435 |
1283 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA415222247 rs1295270302 |
1284 | A>S | No |
ClinGen TOPMed |
|
|
CA415222211 rs1557177627 |
1287 | Q>H | No |
ClinGen Ensembl |
|
|
CA415222192 rs1557177623 |
1289 | G>* | No |
ClinGen gnomAD |
|
|
CA415222196 rs1557177623 |
1289 | G>R | No |
ClinGen gnomAD |
|
|
COSM1117947 rs782265007 CA10560642 COSM1117948 |
1293 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA10560641 rs782067102 |
1294 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781816229 CA10560640 |
1296 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA415222087 rs1484516863 |
1297 | V>L | No |
ClinGen TOPMed |
|
|
RCV000733777 rs1569551645 CA415222056 |
1299 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782752974 CA10560639 |
1305 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA415221852 rs1557177604 |
1307 | T>I | No |
ClinGen gnomAD |
|
|
rs863223632 RCV000199592 |
1308 | Y>missing | No |
ClinVar dbSNP |
|
|
CA415221727 rs1557177601 |
1310 | Q>R | No |
ClinGen gnomAD |
|
|
CA10560634 rs377505188 |
1312 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1117946 COSM1117945 rs1557177584 CA415221592 |
1314 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs782610314 CA10560632 |
1316 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782382389 CA10560631 |
1322 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs782414490 CA415220814 |
1332 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560614 rs200615848 |
1332 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557177548 CA415220619 |
1338 | S>N | No |
ClinGen gnomAD |
|
|
CA415220575 rs1557177547 |
1339 | P>L | No |
ClinGen gnomAD |
|
|
CA10560610 rs782342052 |
1340 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415220485 rs1391931551 |
1342 | S>G | No |
ClinGen TOPMed |
|
|
rs1557177542 CA415220468 |
1342 | S>T | No |
ClinGen gnomAD |
|
|
CA415220299 rs1368452449 |
1347 | V>A | No |
ClinGen TOPMed |
|
|
CA415220275 rs1557177539 |
1348 | P>L | No |
ClinGen gnomAD |
|
|
rs782628781 CA10560608 |
1348 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560605 rs782694834 |
1351 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10560606 rs782269355 COSM1207222 |
1351 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1603360926 CA415220079 |
1354 | D>A | No |
ClinGen Ensembl |
|
|
COSM3939878 rs377390031 COSM3939879 CA274734 |
1354 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10560602 rs782490288 |
1357 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10560603 rs782490288 |
1357 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10560604 rs373073505 |
1357 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000196372 rs863223633 |
1359 | R>missing | No |
ClinVar dbSNP |
|
|
rs369768801 CA10560601 |
1359 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557177520 CA415219868 |
1359 | R>H | No |
ClinGen gnomAD |
|
|
rs201475771 CA16043279 RCV000413894 |
1361 | H>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs782815741 CA337279606 |
1365 | I>V | No |
ClinGen TOPMed |
|
|
CA10560599 rs376774130 RCV000729237 RCV000622238 |
1369 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782079908 CA10560597 |
1371 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA415219426 rs1557177507 |
1373 | P>S | No |
ClinGen gnomAD |
|
|
CA415219359 rs1195914131 |
1375 | K>R | No |
ClinGen TOPMed |
|
|
rs1426125056 CA415219319 |
1377 | T>S | No |
ClinGen TOPMed |
|
|
CA10560581 rs781821894 |
1383 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273044438 CA415218983 |
1385 | T>M | No |
ClinGen TOPMed |
|
|
CA415218956 rs1557177477 |
1387 | G>S | No |
ClinGen gnomAD |
|
|
CA337279498 rs937227634 |
1391 | A>T | No |
ClinGen gnomAD |
|
|
rs1603360869 CA415218826 |
1392 | V>I | No |
ClinGen Ensembl |
|
|
CA10560577 rs782161982 |
1395 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560575 rs782330707 |
1397 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs782087497 CA10560574 |
1398 | A>T | No |
ClinGen ExAC |
|
|
CA415218539 rs1557177470 |
1400 | M>I | No |
ClinGen gnomAD |
|
|
RCV001091830 rs781976719 |
1403 | M>L | No |
ClinVar dbSNP |
|
|
rs886039174 RCV000246501 CA10587970 |
1403 | M>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000619830 CA10560573 rs781976719 |
1403 | M>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV001571620 rs797045578 CA205653 RCV000192676 |
1408 | G>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs782426283 CA10560569 RCV000621960 RCV000504106 |
1411 | S>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10604881 RCV000353992 rs886044833 |
1413 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA415218058 rs1557177456 |
1417 | Y>F | No |
ClinGen gnomAD |
|
|
rs1463010231 CA415218067 |
1417 | Y>H | No |
ClinGen TOPMed |
|
|
rs35504556 CA337279419 VAR_032083 |
1419 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA10560564 rs782528716 |
1421 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs797044690 RCV000176540 |
1424 | L>missing | No |
ClinVar dbSNP |
|
|
rs782695587 CA10560563 |
1425 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782073521 CA10560562 |
1426 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10560561 rs781830074 |
1429 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10560560 rs782743829 |
1430 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA415217670 rs1557177448 RCV000659188 |
1431 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415217613 rs1557177444 |
1434 | P>S | No |
ClinGen gnomAD |
|
|
CA415217371 rs1187304210 |
1439 | K>R | No |
ClinGen TOPMed |
|
|
rs863223617 CA324962 |
1443 | H>N | No |
ClinGen TOPMed |
|
|
COSM1117942 CA415217229 COSM1117941 rs1557177410 |
1444 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201886752 CA337279314 |
1448 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA415217120 rs201886752 |
1448 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781905856 CA10560540 |
1452 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs59731635 CA337279306 |
1453 | C>F | No |
ClinGen 1000Genomes |
|
|
rs782703263 CA10560539 |
1455 | G>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000521370 rs1557177405 CA415216958 |
1456 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs374447840 RCV000524095 CA337279301 |
1457 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781969651 CA10560537 |
1462 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA415216829 rs1398682780 |
1462 | M>V | No |
ClinGen TOPMed |
|
|
rs1557177400 CA415216800 |
1464 | R>C | No |
ClinGen gnomAD |
|
|
CA415216798 rs1557177397 |
1464 | R>H | No |
ClinGen gnomAD |
|
|
rs1557177396 CA415216789 |
1465 | A>T | No |
ClinGen gnomAD |
|
|
rs1360766165 CA415216642 COSM388656 |
1469 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA415216629 rs1557177391 |
1469 | Q>H | No |
ClinGen gnomAD |
|
|
CA415216444 rs1557177388 |
1475 | T>I | No |
ClinGen gnomAD |
|
|
rs782427711 CA10560533 |
1477 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA337279283 rs781855364 |
1478 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1557177386 CA415216339 |
1479 | G>V | No |
ClinGen gnomAD |
|
|
CA10560532 rs782170730 |
1481 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560531 rs782349011 |
1482 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1557177380 CA415216281 |
1482 | P>L | No |
ClinGen gnomAD |
|
|
CA415216259 rs1356756921 |
1483 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA415216244 rs1569551606 COSM1117939 COSM1117940 |
1484 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA274737 rs200130356 |
1484 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188943867 CA10560529 |
1486 | K>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA415216226 rs1603360737 |
1486 | K>Q | No |
ClinGen Ensembl |
|
|
CA10560528 rs782520516 |
1487 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1285230988 CA415216189 |
1488 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA415216174 rs782276039 |
1489 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782276039 CA10560527 |
1489 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA415216160 rs1373262269 |
1490 | P>L | No |
ClinGen TOPMed |
|
|
CA10560520 rs782787267 |
1492 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782234886 CA337279133 |
1494 | V>L | No |
ClinGen Ensembl |
|
|
COSM1466775 rs782701954 CA10560518 COSM1466774 |
1499 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA415215814 rs1557177316 |
1503 | A>T | No |
ClinGen gnomAD |
|
|
rs797045579 CA209144 |
1506 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs886041771 RCV000373412 CA10603609 |
1507 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782217889 CA337279100 |
1507 | Q>R | No |
ClinGen TOPMed |
|
|
rs782018054 CA10560513 |
1509 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1557177309 CA415215628 |
1510 | N>S | No |
ClinGen gnomAD |
|
|
rs1259214889 CA415215544 |
1514 | S>G | No |
ClinGen TOPMed |
|
|
rs782340956 CA337279075 |
1514 | S>R | No |
ClinGen gnomAD |
|
|
RCV000176728 CA221720 rs186214592 |
1515 | R>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
|
CA10560510 rs782597696 |
1515 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415215485 rs1557177296 |
1516 | E>D | No |
ClinGen gnomAD |
|
|
rs782413208 CA10560509 |
1517 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415215338 rs1256248451 |
1524 | L>P | No |
ClinGen TOPMed |
|
|
CA337279054 rs201823071 |
1526 | G>R | No |
ClinGen Ensembl |
|
|
CA10560506 rs782537273 |
1527 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377185999 CA337279053 |
1529 | E>D | No |
ClinGen ESP |
|
|
CA415215232 RCV000996067 rs1603360612 |
1530 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557177284 CA415215224 |
1531 | P>S | No |
ClinGen gnomAD |
|
|
CA10560505 rs782563345 |
1532 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560504 rs782460301 |
1532 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10560494 rs782391843 |
1536 | K>R | No |
ClinGen ExAC |
|
|
rs782281134 CA10560493 |
1542 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA415214996 rs1557177252 |
1546 | S>G | No |
ClinGen gnomAD |
|
|
CA10560491 rs782307585 |
1551 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557177249 CA415214928 RCV000523411 |
1551 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001008994 rs1603360547 |
1555 | L>missing | No |
ClinVar dbSNP |
|
|
CA323968 rs782605190 RCV000621317 RCV000199423 |
1556 | N>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1557177241 CA415214821 |
1560 | V>M | No |
ClinGen gnomAD |
|
|
CA415214750 rs1181500076 |
1566 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10560486 rs190415098 |
1571 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557177233 CA415214622 |
1575 | A>T | No |
ClinGen gnomAD |
|
|
CA415214548 rs1557177228 |
1581 | A>S | No |
ClinGen gnomAD |
|
|
rs1557177228 CA415214551 |
1581 | A>T | No |
ClinGen gnomAD |
|
|
CA10560483 rs376202123 |
1584 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10560464 rs372729831 |
1591 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415214366 rs1311666006 |
1592 | K>E | No |
ClinGen TOPMed |
|
|
rs786200973 RCV000176923 |
1594 | T>missing | No |
ClinVar dbSNP |
|
|
rs781870374 CA10560462 |
1596 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415214232 rs1603360409 |
1600 | H>Q | No |
ClinGen Ensembl |
|
|
CA415214226 rs868971677 |
1601 | D>N | No |
ClinGen Ensembl |
|
|
rs782780465 CA10560461 |
1602 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA415214191 rs1557177101 |
1603 | T>M | No |
ClinGen gnomAD |
|
|
rs782314291 COSM1207220 CA10560458 |
1609 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
CA415214092 rs1444219497 |
1611 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782082407 CA415214086 |
1612 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782082407 CA415214088 |
1612 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782082407 CA10560457 |
1612 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10560456 rs781969477 |
1615 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1557177089 CA415213979 |
1617 | T>I | No |
ClinGen gnomAD |
|
|
CA10560453 rs782019231 |
1620 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569551562 CA415213909 |
1621 | K>T | No |
ClinGen Ensembl |
|
|
rs781942245 CA10560451 |
1626 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1414578919 CA415213592 |
1633 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs782500981 RCV000523870 CA10560448 |
1633 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
COSM1466769 rs1400230946 CA415213496 COSM1466768 |
1635 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA415213484 rs1569551558 |
1635 | R>H | No |
ClinGen Ensembl |
|
|
CA415213428 rs1333867692 |
1637 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA16608774 RCV000418133 rs1057524434 |
1640 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA415212639 rs1569551552 |
1652 | G>E | No |
ClinGen Ensembl |
|
|
rs1557176662 CA415208629 |
1657 | G>D | No |
ClinGen gnomAD |
|
|
CA10560405 rs782503130 |
1660 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1402204338 CA415208574 |
1661 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10560403 rs782244680 |
1665 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA319891 rs863223639 |
1666 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1381802174 CA415208427 |
1670 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782670906 CA10560402 |
1671 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1382817700 CA415208289 |
1678 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415208195 rs1260613076 |
1684 | V>A | No |
ClinGen TOPMed |
|
|
rs781783107 CA10560400 |
1685 | T>M | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA10560395 rs782125523 |
1689 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445311327 CA415207977 |
1695 | E>G | No |
ClinGen TOPMed |
|
|
CA415207957 rs1181232052 |
1696 | V>L | No |
ClinGen TOPMed |
|
|
CA10560393 rs782819750 |
1697 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10560391 rs782048198 |
1699 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782351877 CA10560389 |
1700 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468053311 CA415207802 |
1702 | E>K | No |
ClinGen TOPMed |
|
|
CA415207736 rs1603359862 |
1704 | E>D | No |
ClinGen Ensembl |
|
|
rs1557176633 CA415207733 |
1705 | D>N | No |
ClinGen gnomAD |
|
|
CA10560388 rs781993685 |
1706 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10560387 rs781993685 RCV000722193 |
1706 | G>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA415207700 rs1557176631 |
1707 | T>A | No |
ClinGen gnomAD |
|
|
CA415207674 rs1557176627 |
1709 | D>E | No |
ClinGen Ensembl |
|
|
rs782286237 CA10560385 |
1709 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221723 RCV000177454 rs398123621 |
1711 | F>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415207661 rs1390287865 |
1711 | F>S | No |
ClinGen TOPMed |
|
|
rs782311904 CA337276593 |
1712 | Y>H | No |
ClinGen Ensembl |
|
|
RCV000520883 CA10560384 rs782555986 |
1713 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10587969 rs886039102 RCV000245530 |
1714 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415207611 rs1241718536 |
1714 | A>V | No |
ClinGen TOPMed |
|
|
rs1557176613 CA415207591 |
1716 | Q>E | No |
ClinGen gnomAD |
|
|
CA10560382 rs782206361 |
1716 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415207548 rs1557176607 |
1717 | P>L | No |
ClinGen gnomAD |
|
|
RCV000200140 rs863223624 CA324699 |
1719 | K>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10560380 rs782502175 |
1719 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560378 rs187497365 |
1721 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1557176599 CA415207401 |
1723 | C>Y | No |
ClinGen gnomAD |
|
|
rs1195468267 CA415207368 |
1725 | R>C | No |
ClinGen TOPMed |
|
|
CA10560377 rs782548072 |
1727 | G>A | No |
ClinGen ExAC TOPMed |
|
|
CA415207193 rs1557176587 |
1731 | V>L | No |
ClinGen gnomAD |
|
|
CA10560373 rs781981573 |
1736 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA415207014 rs1557176580 |
1738 | V>L | No |
ClinGen gnomAD |
|
|
CA10560372 rs782768845 |
1739 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA415206752 rs1489824545 |
1744 | D>A | No |
ClinGen TOPMed |
|
|
rs1557176532 CA415206718 |
1746 | P>S | No |
ClinGen gnomAD |
|
|
rs1020587429 CA337276430 |
1748 | V>M | No |
ClinGen TOPMed |
|
|
rs975808762 CA337276416 |
1750 | P>H | No |
ClinGen Ensembl |
|
|
CA10560348 rs374501630 |
1751 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA320471 rs56102764 |
1751 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000762687 CA415206627 rs1363194253 |
1752 | L>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA415206615 rs1305496218 |
1753 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10560347 rs782147650 |
1753 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415206586 RCV000621187 rs1557176515 |
1754 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs886044824 RCV000371928 CA10604731 |
1760 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1293701269 CA415206399 |
1761 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1557176512 CA415206329 |
1762 | T>N | No |
ClinGen gnomAD |
|
|
CA285486 rs57108893 VAR_012835 |
1764 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA415206255 rs1357372556 |
1765 | Q>E | No |
ClinGen TOPMed |
|
|
rs1557176498 CA415206193 |
1767 | G>S | No |
ClinGen gnomAD |
|
|
rs1557176497 CA415206169 |
1768 | Q>* | No |
ClinGen gnomAD |
|
|
CA415206139 rs1557176495 |
1769 | Q>E | No |
ClinGen gnomAD |
|
|
CA337276309 rs377576796 |
1773 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1557176465 CA415205893 |
1777 | L>V | No |
ClinGen gnomAD |
|
|
rs373089783 CA320672 |
1781 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557176461 CA415205559 |
1787 | S>N | No |
ClinGen gnomAD |
|
|
CA415205478 rs1557176457 |
1790 | P>A | No |
ClinGen gnomAD |
|
|
rs1557176457 CA415205481 |
1790 | P>T | No |
ClinGen gnomAD |
|
|
CA415205117 rs1557176451 |
1801 | K>T | No |
ClinGen gnomAD |
|
|
CA10560329 rs368750879 VAR_067251 |
1803 | E>K | Periventricular nodular heterotopia 1 (pvnh1) probable disease-associated variant found in a patient with macrothrombocytopenia [Ensembl, UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA415205014 rs1557176447 |
1805 | T>A | No |
ClinGen gnomAD |
|
|
rs782134110 RCV000520698 CA10560313 |
1809 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA415204732 rs1557176425 |
1809 | R>W | No |
ClinGen gnomAD |
|
|
CA415204548 rs1569551509 |
1815 | V>M | No |
ClinGen Ensembl |
|
|
CA337276205 rs12395634 |
1816 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781950038 CA10560310 |
1818 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10560309 rs782353713 |
1820 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782241871 CA10560308 |
1821 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10560307 rs782003126 |
1824 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1372737694 CA415204153 |
1826 | G>D | No |
ClinGen TOPMed |
|
|
rs782286010 CA10560305 |
1827 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782448596 CA10560303 |
1828 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560302 rs782216086 |
1829 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782505945 CA10560300 |
1830 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs781882457 CA10560299 |
1831 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260834543 COSM1117928 CA415204096 COSM1117927 |
1831 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10560298 rs782803904 |
1832 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1557176404 CA415204063 |
1833 | A>S | No |
ClinGen gnomAD |
|
|
CA415204051 rs1210420117 |
1834 | P>S | No |
ClinGen TOPMed |
|
|
RCV000617701 rs1557176399 CA415204014 |
1836 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1479378222 CA415203950 |
1839 | L>V | No |
ClinGen TOPMed |
|
|
CA415203920 rs1557176396 |
1841 | E>K | No |
ClinGen gnomAD |
|
|
rs782738661 CA10560295 |
1842 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10560293 rs782193125 |
1845 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10560292 rs782771039 |
1846 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1557176390 CA415203717 |
1849 | M>R | No |
ClinGen gnomAD |
|
|
rs1569551504 CA415201347 |
1857 | Q>R | No |
ClinGen Ensembl |
|
|
RCV000198414 CA322914 rs781809353 |
1863 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782387573 CA10560272 |
1865 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA415200873 rs1271913157 |
1867 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA415200868 rs1271913157 |
1867 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415200828 rs1569551503 |
1869 | T>A | No |
ClinGen Ensembl |
|
|
CA10560267 rs782604008 |
1876 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1557176349 CA415200567 |
1879 | V>G | No |
ClinGen gnomAD |
|
|
CA415200445 rs1199334593 |
1883 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782102231 CA337275982 |
1883 | P>T | No |
ClinGen Ensembl |
|
|
rs886039107 RCV000245068 CA10587966 |
1887 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000603707 rs782669152 CA10560264 |
1888 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA415200251 rs1173352292 |
1891 | K>R | No |
ClinGen TOPMed |
|
|
rs1419122458 CA415200244 |
1892 | D>N | No |
ClinGen TOPMed |
|
|
rs781788410 CA10560262 |
1894 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA10560261 rs782584665 |
1895 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10560240 rs782261415 |
1900 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1557176275 CA415199972 |
1904 | G>D | No |
ClinGen gnomAD |
|
|
CA10560238 rs782549964 |
1904 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560237 RCV000730841 rs781794030 |
1905 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000522974 rs1557176274 CA415199966 |
1905 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415199849 rs1381370972 |
1909 | E>D | No |
ClinGen TOPMed |
|
|
CA10560234 rs781852005 |
1911 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA415199775 rs1243188862 |
1912 | C>G | No |
ClinGen TOPMed |
|
|
CA10560233 rs373862172 |
1918 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560232 rs371366175 |
1922 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560231 rs782351847 |
1924 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415199459 rs1557176253 |
1927 | V>L | No |
ClinGen gnomAD |
|
|
rs782359458 CA10560228 |
1929 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782359458 CA415199391 |
1929 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782005296 CA10560226 |
1933 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782005296 CA415199303 |
1933 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375041946 CA10560225 |
1934 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415199161 rs1603359508 |
1939 | N>D | No |
ClinGen Ensembl |
|
|
rs373682131 CA337275643 |
1943 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA415198780 rs1557176239 |
1951 | R>Q | No |
ClinGen gnomAD |
|
|
rs797044724 RCV000177835 |
1952 | V>missing | No |
ClinVar dbSNP |
|
|
CA415198772 rs1557176236 |
1952 | V>I | No |
ClinGen gnomAD |
|
|
rs930325486 CA337275561 |
1956 | D>N | No |
ClinGen gnomAD |
|
|
rs781962741 CA10560208 |
1957 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781962741 CA415198377 |
1957 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231107 RCV000117046 rs587780336 |
1958 | M>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM1207218 CA415198343 rs1198953814 COSM3713882 |
1959 | R>H | upper_aerodigestive_tract large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA415198312 rs782252495 |
1960 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560206 rs782252495 |
1960 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258302355 CA415198325 |
1960 | M>T | No |
ClinGen TOPMed |
|
|
rs782660265 CA10560205 |
1962 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560203 rs782176193 |
1966 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557176208 CA415198133 |
1967 | S>F | No |
ClinGen gnomAD |
|
|
CA415198122 rs1557176207 |
1968 | A>P | No |
ClinGen gnomAD |
|
|
CA415198046 rs1304255474 |
1970 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV000329679 rs886041710 |
1977 | E>missing | No |
ClinVar dbSNP |
|
|
CA337275542 rs782034682 |
1977 | E>A | No |
ClinGen Ensembl |
|
|
CA415197746 rs1603359437 |
1978 | T>M | No |
ClinGen Ensembl |
|
|
CA10605714 RCV000403976 rs886044866 |
1980 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10560199 rs782639698 |
1984 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560197 rs781888305 |
1986 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10560196 rs782815361 |
1986 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA337275486 rs992772682 |
1989 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415197441 rs1557176194 |
1989 | P>S | No |
ClinGen gnomAD |
|
|
rs187029309 CA285492 |
1991 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782401919 CA415197323 |
1993 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603359417 RCV001009255 |
2001 | R>missing | No |
ClinVar dbSNP |
|
|
rs1483960506 CA415197078 |
2001 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10560190 rs782160183 |
2001 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782321229 CA10560188 |
2006 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA415196901 rs200956777 |
2007 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200956777 CA10560187 COSM755685 COSM1648244 |
2007 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs368739356 CA10560174 |
2010 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226982948 CA415196663 |
2012 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415196666 rs1226982948 |
2012 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA415196634 rs1557176165 |
2013 | P>S | No |
ClinGen gnomAD |
|
|
CA415196520 rs1557176160 |
2017 | G>E | No |
ClinGen gnomAD |
|
|
rs1603359376 RCV000996064 CA415196511 |
2018 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1205762631 CA415196430 |
2022 | H>R | No |
ClinGen TOPMed |
|
|
rs781998679 CA10560168 |
2023 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1557176154 CA415196358 |
2024 | K>R | No |
ClinGen gnomAD |
|
|
CA337275256 rs1019020441 |
2027 | G>D | No |
ClinGen Ensembl |
|
|
CA415196296 rs1557176152 |
2027 | G>S | No |
ClinGen gnomAD |
|
|
rs782417775 CA10560167 |
2028 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs782292372 CA10560166 |
2029 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA324507 RCV000199955 rs781920955 |
2030 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1557176139 CA415196160 |
2032 | S>N | No |
ClinGen gnomAD |
|
|
CA415196151 rs1557176137 |
2032 | S>R | No |
ClinGen gnomAD |
|
|
CA415196051 rs1557176131 |
2036 | P>L | No |
ClinGen Ensembl |
|
|
RCV000501229 CA415196053 rs1557176131 |
2036 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782622884 CA10560163 |
2037 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782337986 CA337275197 |
2041 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782666380 CA10560159 |
2042 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415195868 rs1456700240 |
2044 | I>T | No |
ClinGen TOPMed |
|
|
CA10560157 rs781802209 |
2047 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA415195784 rs1295592293 |
2048 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415195766 RCV000584654 rs1557176118 |
2049 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782483195 CA10560155 |
2051 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782560098 CA337275145 |
2051 | R>W | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1557176115 CA415195709 |
2052 | V>I | No |
ClinGen gnomAD |
|
|
rs11541264 RCV000489615 CA415195618 |
2055 | Q>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs11541264 CA337275137 |
2055 | Q>R | No |
ClinGen Ensembl |
|
|
CA415195522 rs781856226 |
2058 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319797962 CA415195392 |
2062 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782151831 CA10560152 |
2064 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1603359334 CA415195308 RCV000996063 |
2065 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415195117 rs1265770821 |
2069 | I>T | No |
ClinGen TOPMed |
|
|
rs782693894 CA10560150 |
2070 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415195103 rs1485434803 |
2070 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782069230 CA415195014 |
2073 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323761 RCV000505773 rs781956012 |
2073 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000756177 rs781860863 CA10560131 |
2077 | Y>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1557176072 CA415194684 |
2078 | G>S | No |
ClinGen gnomAD |
|
|
rs11541263 CA337274996 |
2081 | S>T | No |
ClinGen Ensembl |
|
|
rs2067631656 RCV001268776 |
2084 | I>missing | No |
ClinVar dbSNP |
|
|
rs1057515584 RCV000403233 |
2084 | I>missing | No |
ClinVar dbSNP |
|
|
rs1603359277 CA415194423 |
2086 | G>V | No |
ClinGen Ensembl |
|
|
rs981005441 CA337274990 |
2087 | P>L | No |
ClinGen Ensembl |
|
|
rs797045580 CA207596 RCV000193842 |
2088 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415194302 rs1569551477 |
2090 | V>A | No |
ClinGen Ensembl |
|
|
rs968230475 CA337274985 |
2090 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415194181 rs1414664730 |
2093 | N>T | No |
ClinGen TOPMed |
|
|
rs781962577 CA10560125 |
2096 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782255283 CA10560123 RCV000909484 |
2097 | L>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA415193988 rs1557176061 |
2097 | L>R | No |
ClinGen gnomAD |
|
|
rs781785034 COSM1117907 CA10560121 COSM1117908 |
2100 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1289908513 CA415193836 |
2101 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1289908513 CA415193844 |
2101 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs370277156 CA10560119 |
2103 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782722036 CA415193706 |
2104 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321104 rs200200745 RCV000196682 RCV000622013 |
2105 | T>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs781892077 RCV000522458 CA10560116 |
2106 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10560117 rs377052615 |
2106 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415193618 rs1557176055 |
2107 | C>S | No |
ClinGen gnomAD |
|
|
rs1557176052 CA415193601 |
2107 | C>S | No |
ClinGen Ensembl |
|
|
RCV000729772 rs1569551475 |
2110 | E>missing | No |
ClinVar dbSNP |
|
|
CA10560114 rs782061936 |
2111 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000414095 rs1057518479 CA16043236 |
2113 | N>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA415193374 rs1557176044 |
2114 | Y>H | No |
ClinGen gnomAD |
|
|
CA322732 rs375205247 |
2117 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868993210 CA415193125 |
2121 | A>V | No |
ClinGen Ensembl |
|
|
CA415193102 rs1473151451 |
2122 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA415193010 rs781999359 |
2124 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557176038 CA415193003 |
2125 | V>M | No |
ClinGen gnomAD |
|
|
rs782161469 CA10560109 |
2126 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1028791955 CA337274823 |
2127 | G>C | No |
ClinGen TOPMed |
|
|
CA415192719 rs1277448008 |
2129 | P>S | No |
ClinGen TOPMed |
|
|
rs863223634 RCV000198038 |
2130 | F>missing | No |
ClinVar dbSNP |
|
|
rs1557176018 CA415192532 |
2136 | G>D | No |
ClinGen gnomAD |
|
|
rs782142395 CA10560093 |
2137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782142395 CA10560092 |
2137 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244988 rs200524526 |
2138 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10560091 rs782761341 |
2139 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10560090 rs782096496 |
2140 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA415192373 rs1557176010 |
2142 | E>K | No |
ClinGen gnomAD |
|
|
CA415192382 rs1557176010 |
2142 | E>Q | No |
ClinGen gnomAD |
|
|
CA10560089 rs781945322 |
2143 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs200832880 CA337274701 |
2146 | R>C | No |
ClinGen gnomAD |
|
|
rs1557176006 RCV000992001 CA415192252 |
2146 | R>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs782402511 CA10560087 |
2147 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA10560086 rs782022901 |
2148 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201932105 RCV000518860 CA10560085 |
2149 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM3764974 RCV000996062 CA415192190 rs1603359214 COSM3764973 |
2149 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA415192133 RCV000497976 rs1557176001 |
2152 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415192082 rs1557175999 RCV000520181 |
2155 | N>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782477734 CA10560082 |
2161 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415191628 rs1222551110 |
2169 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1463595081 CA415191586 |
2170 | S>R | No |
ClinGen TOPMed |
|
|
rs1190530899 CA415191578 |
2171 | I>V | No |
ClinGen TOPMed |
|
|
rs1472405632 CA415191459 |
2174 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781992483 CA415191296 |
2180 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415191281 RCV000762686 rs1569551460 |
2181 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10577650 RCV000218877 rs876661183 |
2183 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10560069 rs782088697 |
2185 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA415191165 rs1557175962 |
2186 | H>L | No |
ClinGen gnomAD |
|
|
CA415191092 rs1405780478 |
2189 | E>K | No |
ClinGen TOPMed |
|
|
rs1603359155 CA415191073 |
2190 | I>L | No |
ClinGen Ensembl |
|
|
rs782299541 CA10560066 |
2191 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA337274607 rs1045173164 |
2192 | E>K | No |
ClinGen Ensembl |
|
|
rs782658805 CA10560065 |
2195 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436846085 CA415190743 |
2200 | I>V | No |
ClinGen TOPMed |
|
|
RCV000199101 rs863223646 |
2201 | R>missing | No |
ClinVar dbSNP |
|
|
rs368547421 COSM1466758 CA10560061 COSM1466759 |
2201 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10560055 rs781935515 |
2205 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781935515 CA10560057 |
2205 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781935515 CA10560056 |
2205 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1557175951 CA415190534 |
2208 | G>R | No |
ClinGen gnomAD |
|
|
CA415190510 rs1603359118 |
2209 | T>A | No |
ClinGen Ensembl |
|
|
CA10560052 rs782037508 |
2219 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA16608798 RCV000443655 rs1057520496 |
2221 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415190191 rs1248674023 |
2222 | P>A | No |
ClinGen TOPMed |
|
|
rs1441966429 CA415190028 |
2227 | Q>H | No |
ClinGen TOPMed |
|
|
RCV000178427 CA245520 rs797044738 |
2231 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs868962372 CA415189792 |
2235 | E>* | No |
ClinGen Ensembl |
|
|
RCV000441394 rs1057520156 CA16603295 |
2235 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415189595 rs1060500717 |
2242 | R>G | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen TOPMed |
|
rs781984274 CA10560049 |
2242 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337274492 rs11541268 |
2252 | E>* | No |
ClinGen Ensembl |
|
|
RCV000618248 CA415189345 rs1557175926 |
2255 | V>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1603359077 CA415189326 |
2256 | P>S | No |
ClinGen Ensembl |
|
|
CA415187090 rs1276647740 |
2259 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA415187092 rs1276647740 |
2259 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10560031 rs782722440 |
2264 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1557175896 CA415186683 |
2268 | A>G | No |
ClinGen gnomAD |
|
|
rs2067623386 RCV001172217 |
2269 | G>R | No |
ClinVar dbSNP |
|
|
CA415186657 rs1557175893 |
2271 | L>M | No |
ClinGen gnomAD |
|
|
CA16621252 RCV000486105 rs1004772663 |
2273 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1603359032 CA415186538 |
2276 | E>D | No |
ClinGen Ensembl |
|
|
CA10560027 rs782254347 |
2276 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10560025 rs373037983 |
2283 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782198457 CA10560024 |
2284 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1057524694 RCV000421998 CA16608323 |
2285 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415186386 rs1569551446 |
2287 | D>N | No |
ClinGen Ensembl |
|
|
rs782566359 CA10560022 |
2288 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415186296 rs782504409 |
2291 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10560019 rs782504409 |
2291 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs797044739 CA245558 |
2291 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415186148 rs1377678834 |
2299 | V>I | No |
ClinGen TOPMed |
|
|
CA10560018 rs781839032 |
2302 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1448396613 CA415186069 |
2303 | G>S | No |
ClinGen TOPMed |
|
|
rs186270494 CA10559989 |
2304 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1273594884 CA415185974 |
2306 | E>D | No |
ClinGen TOPMed |
|
|
CA415185980 rs1603358960 |
2306 | E>K | No |
ClinGen Ensembl |
|
|
CA10559986 RCV000711673 rs782129661 |
2313 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs781985045 CA10559985 |
2316 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA415185834 rs1569551436 |
2317 | P>A | No |
ClinGen Ensembl |
|
|
rs1557175822 CA415185819 |
2318 | D>N | No |
ClinGen gnomAD |
|
|
RCV000197351 rs863223625 CA321804 |
2323 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415185700 rs1187581538 |
2324 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415185697 rs1557175818 |
2325 | V>M | No |
ClinGen gnomAD |
|
|
CA10559983 rs781933783 |
2327 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10559982 rs782310851 |
2328 | P>L | No |
ClinGen ExAC |
|
|
CA415185610 rs1557175810 |
2330 | G>S | No |
ClinGen gnomAD |
|
|
CA10559978 rs371689052 |
2331 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377274096 CA10559976 |
2333 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782689584 CA10559975 |
2334 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782770155 CA10559974 |
2334 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781878646 CA245624 |
2338 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376814112 CA415185479 |
2340 | L>F | No |
ClinGen TOPMed |
|
|
CA415185476 RCV000788661 rs1376814112 |
2340 | L>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA337273975 rs1137967 |
2341 | Q>L | No |
ClinGen TOPMed |
|
|
CA337273977 rs1137967 |
2341 | Q>R | No |
ClinGen TOPMed |
|
|
rs1557175657 CA415185278 |
2348 | N>S | No |
ClinGen Ensembl |
|
|
rs1557175653 CA415185240 |
2351 | A>T | No |
ClinGen gnomAD |
|
|
CA415185222 rs1557175646 |
2352 | S>F | No |
ClinGen gnomAD |
|
|
CA10559961 rs782425402 |
2352 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10559960 rs781823700 |
2356 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415185132 rs1320830280 |
2359 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1557175628 CA415185106 |
2361 | K>T | No |
ClinGen gnomAD |
|
|
CA415185067 rs1447944488 |
2364 | I>V | No |
ClinGen TOPMed |
|
|
rs1557175620 RCV000596271 CA415184998 |
2368 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782389009 CA337273536 |
2368 | V>M | No |
ClinGen Ensembl |
|
|
rs1557175616 CA415184975 |
2370 | S>G | No |
ClinGen gnomAD |
|
|
CA415184896 rs1557175609 |
2374 | A>V | No |
ClinGen gnomAD |
|
|
CA415184825 rs1557175602 |
2377 | E>V | No |
ClinGen gnomAD |
|
|
CA415184780 rs1206916365 |
2379 | Y>C | No |
ClinGen TOPMed |
|
|
CA324986 rs781881872 |
2379 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415184712 rs1285050920 |
2382 | E>D | No |
ClinGen TOPMed |
|
|
CA10559952 rs782754461 |
2384 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000178520 CA234014 rs727503931 |
2385 | Q>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10559951 rs727503931 |
2385 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs371563857 CA10559942 |
2386 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10559941 rs782579933 |
2389 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1480403319 CA415184459 |
2391 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10559939 rs782645927 |
2392 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781831266 CA10559937 |
2395 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA10559938 rs368038166 |
2395 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415184320 rs1557175461 |
2396 | E>D | No |
ClinGen gnomAD |
|
|
CA415184314 rs1172925963 |
2397 | N>D | No |
ClinGen TOPMed |
|
|
CA10583935 rs878854463 |
2399 | V>I | No |
ClinGen TOPMed |
|
|
rs1603358629 CA415184203 |
2401 | L>P | No |
ClinGen Ensembl |
|
|
CA10559933 rs782811927 |
2404 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415184138 rs782811927 |
2404 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202917 rs201168500 |
2408 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299563181 CA415184042 |
2408 | G>V | No |
ClinGen TOPMed |
|
|
CA415184028 rs1557175451 |
2410 | H>R | No |
ClinGen gnomAD |
|
|
CA415183920 rs1557175442 |
2418 | I>M | No |
ClinGen gnomAD |
|
|
rs782308324 RCV000215801 CA10577654 |
2419 | R>* | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782308324 CA10559931 |
2419 | R>G | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1557175437 CA415183913 |
2419 | R>Q | No |
ClinGen gnomAD |
|
|
rs782014331 CA10559928 |
2422 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA321587 rs200198847 |
2423 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337273053 rs1016418093 |
2425 | H>R | No |
ClinGen Ensembl |
|
|
COSM1117887 rs1557175435 CA415183840 |
2425 | H>Y | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA415183711 rs1557175428 |
2437 | A>T | No |
ClinGen gnomAD |
|
|
rs782612779 CA10559926 |
2441 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA415183663 rs1281469151 |
2441 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs782189345 CA10559924 |
2442 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557175403 CA415183161 |
2445 | G>E | No |
ClinGen gnomAD |
|
|
CA415183144 rs1569551409 |
2446 | N>I | No |
ClinGen Ensembl |
|
|
rs782613404 CA415183067 |
2451 | V>I | No |
ClinGen ExAC |
|
|
rs782613404 CA10559902 |
2451 | V>L | No |
ClinGen ExAC |
|
|
rs782450850 CA10559901 |
2452 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs781788290 CA10559900 |
2454 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1187975904 CA415182965 |
2456 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415182942 rs1557175391 |
2457 | A>V | No |
ClinGen gnomAD |
|
|
CA10559895 rs782091553 |
2458 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA415182916 rs1420001297 |
2459 | A>T | No |
ClinGen TOPMed |
|
|
CA415182895 COSM1648246 COSM755688 rs1557175388 |
2460 | G>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1557175387 CA415182885 |
2461 | A>S | No |
ClinGen gnomAD |
|
|
rs1460574102 CA415182846 |
2463 | S>L | No |
ClinGen TOPMed |
|
|
CA415182789 rs1557175382 |
2466 | I>V | No |
ClinGen gnomAD |
|
|
rs1557175381 CA415182683 |
2469 | P>L | No |
ClinGen gnomAD |
|
|
CA415182550 rs1317039384 |
2474 | M>I | No |
ClinGen TOPMed |
|
|
rs782400342 CA10559890 |
2477 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1345049208 CA415182398 |
2478 | E>K | No |
ClinGen TOPMed |
|
|
CA415182337 rs1557175373 |
2480 | P>S | No |
ClinGen gnomAD |
|
|
RCV000640791 RCV000618599 CA319805 rs782557713 |
2484 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs782338659 CA10559889 |
2484 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1603358505 CA415182121 |
2485 | V>A | No |
ClinGen Ensembl |
|
|
rs1557175367 CA415182063 |
2488 | T>A | No |
ClinGen gnomAD |
|
|
rs909387820 CA337272867 |
2488 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10559886 rs782431987 |
2490 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10559887 rs782563616 |
2490 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415181893 rs1283656567 |
2494 | S>R | No |
ClinGen TOPMed |
|
|
rs1557175360 CA415181841 |
2497 | I>F | No |
ClinGen gnomAD |
|
|
rs1557175356 CA415181806 |
2498 | S>C | No |
ClinGen gnomAD |
|
|
rs782276654 COSM1117883 CA10559885 |
2502 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1603358483 CA415181673 |
2503 | G>D | No |
ClinGen Ensembl |
|
|
RCV000619116 CA337272840 rs971390304 |
2507 | I>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA10559883 rs782611801 |
2509 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA337272833 rs1022884327 |
2514 | A>T | No |
ClinGen Ensembl |
|
|
rs782442409 CA10559881 |
2515 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA415181294 rs1419500323 |
2518 | G>S | No |
ClinGen TOPMed |
|
|
rs782244918 CA10559869 |
2520 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781959191 CA10559868 |
2520 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA920450367 rs1603358439 |
2521 | L>G | No |
ClinGen Ensembl |
|
|
CA10559866 rs187774579 |
2522 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415180976 rs1180712506 |
2527 | L>F | No |
ClinGen TOPMed |
|
|
CA415180957 rs1361523281 |
2528 | H>Y | No |
ClinGen TOPMed |
|
|
CA10587963 rs886039104 RCV000249081 |
2535 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA337272725 rs886044883 |
2538 | L>V | No |
ClinGen Ensembl |
|
|
rs1557175301 CA415180590 |
2539 | T>I | No |
ClinGen gnomAD |
|
|
CA10559862 rs782651197 |
2541 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782496288 RCV000618608 CA415180502 |
2543 | C>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs782496288 CA10559861 |
2543 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs201762017 CA10559860 |
2543 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782714612 CA10559859 |
2544 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557175294 CA415180423 |
2545 | P>A | No |
ClinGen gnomAD |
|
|
rs1377674951 CA415180391 |
2545 | P>L | No |
ClinGen TOPMed |
|
|
CA415180311 rs1557175286 |
2549 | A>D | No |
ClinGen gnomAD |
|
|
CA415180314 rs1557175287 |
2549 | A>S | No |
ClinGen Ensembl |
|
|
CA319753 rs371724771 |
2550 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557175283 CA415180266 |
2551 | G>D | No |
ClinGen gnomAD |
|
|
CA415180280 rs1557175285 |
2551 | G>R | No |
ClinGen gnomAD |
|
|
rs1060500720 CA16616645 |
2554 | P>T | No |
ClinGen Ensembl |
|
|
rs373872030 CA337272711 |
2556 | D>G | No |
ClinGen ESP |
|
|
rs782125615 CA10559856 |
2557 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1232024456 CA415180096 |
2557 | A>V | No |
ClinGen TOPMed |
|
|
CA415179997 rs1603358390 |
2560 | V>A | No |
ClinGen Ensembl |
|
|
CA415179725 rs1248046981 |
2569 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA415179733 rs1248046981 |
2569 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1439205409 CA415179703 |
2570 | A>T | No |
ClinGen TOPMed |
|
|
CA10559853 rs781930608 |
2571 | Y>F | No |
ClinGen ExAC |
|
|
rs782006629 CA10559850 |
2572 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782291033 CA10559851 |
2572 | V>I | Periventricular nodular heterotopia 1 (pvnh1) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1569551393 CA415179501 |
2576 | S>G | No |
ClinGen Ensembl |
|
|
CA415179233 RCV000622108 rs1557175261 |
2585 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415178886 rs1557175200 |
2587 | N>S | No |
ClinGen gnomAD |
|
|
CA415178728 rs1557175198 |
2591 | L>P | No |
ClinGen gnomAD |
|
|
CA415178706 rs1183865514 |
2592 | V>L | No |
ClinGen TOPMed |
|
|
rs1603358284 CA415178550 |
2595 | H>P | No |
ClinGen Ensembl |
|
|
rs1557175190 CA415178389 |
2598 | R>K | No |
ClinGen gnomAD |
|
|
RCV000497840 rs782593788 CA415178341 |
2599 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000242466 CA10559825 rs782593788 |
2599 | T>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10559826 rs782225026 |
2599 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA415178298 rs1557175183 |
2600 | P>L | No |
ClinGen gnomAD |
|
|
rs377322094 CA415178335 |
2600 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10559824 rs377322094 |
2600 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA16616644 rs1060500721 |
2601 | C>Y | No |
ClinGen Ensembl |
|
|
CA415178214 rs1557175179 |
2602 | E>K | No |
ClinGen gnomAD |
|
|
rs781993962 CA10559822 |
2608 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10559820 rs781864075 |
2612 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10559817 rs781804897 |
2613 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs929704371 CA337272560 |
2615 | S>G | No |
ClinGen TOPMed |
|
|
CA337272553 rs782411364 |
2616 | V>A | No |
ClinGen 1000Genomes |
|
|
rs369791082 CA337272555 |
2616 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA10559815 rs782302420 |
2621 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415177496 rs1241531876 |
2622 | D>V | No |
ClinGen TOPMed |
|
|
rs1557175147 CA415177440 |
2624 | G>E | No |
ClinGen gnomAD |
|
|
CA10559813 rs782573110 |
2627 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415177361 rs782573110 |
2627 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415177359 rs1557175142 |
2628 | L>V | No |
ClinGen gnomAD |
|
|
CA415177122 rs1256751739 |
2634 | D>G | No |
ClinGen TOPMed |
|
|
rs782341270 CA415177129 |
2634 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782341270 CA10559811 |
2634 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA210133 RCV000201336 rs369717556 |
2635 | E>K | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA10559808 rs782411133 |
2639 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557175120 CA415176983 |
2639 | G>R | No |
ClinGen gnomAD |
|
|
CA415176952 rs1557175110 |
2640 | S>I | No |
ClinGen Ensembl |
|
|
CA322167 rs200836471 |
2643 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200836471 CA415176865 |
2643 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782641074 COSM3390518 CA10559807 COSM3390519 |
2643 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1557175101 CA415176823 |
2644 | V>I | No |
ClinGen gnomAD |
|
|
RCV000198493 CA323004 rs863223636 |
2648 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
11 associated diseases with P21333
[MIM: 300049]: Periventricular nodular heterotopia 1 (PVNH1)
A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. {ECO:0000269|PubMed:11532987, ECO:0000269|PubMed:11914408, ECO:0000269|PubMed:15249610, ECO:0000269|PubMed:15668422, ECO:0000269|PubMed:15994863, ECO:0000269|PubMed:16299064}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 311300]: Otopalatodigital syndrome 1 (OPD1)
X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:15940695, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 304120]: Otopalatodigital syndrome 2 (OPD2)
Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:17431908, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 305620]: Frontometaphyseal dysplasia 1 (FMD1)
An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:16596676, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 309350]: Melnick-Needles syndrome (MNS)
Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300048]: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (IPOX)
A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. {ECO:0000269|PubMed:17357080}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300321]: FG syndrome 2 (FGS2)
FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. {ECO:0000269|PubMed:17632775}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300244]: Terminal osseous dysplasia (TOD)
A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. {ECO:0000269|PubMed:20598277}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 314400]: Cardiac valvular dysplasia, X-linked (CVD1)
A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. {ECO:0000269|PubMed:17190868}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300048]: Congenital short bowel syndrome, X-linked (CSBSX)
A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. {ECO:0000269|PubMed:23037936}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. {ECO:0000269|PubMed:11532987, ECO:0000269|PubMed:11914408, ECO:0000269|PubMed:15249610, ECO:0000269|PubMed:15668422, ECO:0000269|PubMed:15994863, ECO:0000269|PubMed:16299064}. Note=The disease is caused by variants affecting the gene represented in this entry.
- X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:15940695, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:17431908, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:16596676, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. {ECO:0000269|PubMed:12612583, ECO:0000269|PubMed:27193221}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. {ECO:0000269|PubMed:17357080}. Note=The disease is caused by variants affecting the gene represented in this entry.
- FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. {ECO:0000269|PubMed:17632775}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. {ECO:0000269|PubMed:20598277}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. {ECO:0000269|PubMed:17190868}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. {ECO:0000269|PubMed:23037936}. Note=The disease is caused by variants affecting the gene represented in this entry.
52 regional properties for P21333
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Filamin/ABP280 repeat | 280 - 377 | IPR001298-1 |
| repeat | Filamin/ABP280 repeat | 380 - 477 | IPR001298-2 |
| repeat | Filamin/ABP280 repeat | 479 - 573 | IPR001298-3 |
| repeat | Filamin/ABP280 repeat | 575 - 666 | IPR001298-4 |
| repeat | Filamin/ABP280 repeat | 671 - 766 | IPR001298-5 |
| repeat | Filamin/ABP280 repeat | 768 - 869 | IPR001298-6 |
| repeat | Filamin/ABP280 repeat | 871 - 968 | IPR001298-7 |
| repeat | Filamin/ABP280 repeat | 970 - 1064 | IPR001298-8 |
| repeat | Filamin/ABP280 repeat | 1066 - 1157 | IPR001298-9 |
| repeat | Filamin/ABP280 repeat | 1159 - 1252 | IPR001298-10 |
| repeat | Filamin/ABP280 repeat | 1254 - 1352 | IPR001298-11 |
| repeat | Filamin/ABP280 repeat | 1354 - 1445 | IPR001298-12 |
| repeat | Filamin/ABP280 repeat | 1447 - 1542 | IPR001298-13 |
| repeat | Filamin/ABP280 repeat | 1544 - 1639 | IPR001298-14 |
| repeat | Filamin/ABP280 repeat | 1641 - 1743 | IPR001298-15 |
| repeat | Filamin/ABP280 repeat | 1758 - 1863 | IPR001298-16 |
| repeat | Filamin/ABP280 repeat | 1864 - 1955 | IPR001298-17 |
| repeat | Filamin/ABP280 repeat | 1956 - 2042 | IPR001298-18 |
| repeat | Filamin/ABP280 repeat | 2046 - 2137 | IPR001298-19 |
| repeat | Filamin/ABP280 repeat | 2150 - 2233 | IPR001298-20 |
| repeat | Filamin/ABP280 repeat | 2237 - 2328 | IPR001298-21 |
| repeat | Filamin/ABP280 repeat | 2331 - 2423 | IPR001298-22 |
| repeat | Filamin/ABP280 repeat | 2428 - 2519 | IPR001298-23 |
| repeat | Filamin/ABP280 repeat | 2556 - 2647 | IPR001298-24 |
| conserved_site | Actinin-type actin-binding domain, conserved site | 45 - 54 | IPR001589-1 |
| conserved_site | Actinin-type actin-binding domain, conserved site | 121 - 145 | IPR001589-2 |
| domain | Calponin homology domain | 43 - 149 | IPR001715-1 |
| domain | Calponin homology domain | 166 - 269 | IPR001715-2 |
| repeat | Filamin/ABP280 repeat-like | 276 - 374 | IPR017868-1 |
| repeat | Filamin/ABP280 repeat-like | 376 - 474 | IPR017868-2 |
| repeat | Filamin/ABP280 repeat-like | 475 - 570 | IPR017868-3 |
| repeat | Filamin/ABP280 repeat-like | 571 - 663 | IPR017868-4 |
| repeat | Filamin/ABP280 repeat-like | 667 - 763 | IPR017868-5 |
| repeat | Filamin/ABP280 repeat-like | 764 - 866 | IPR017868-6 |
| repeat | Filamin/ABP280 repeat-like | 867 - 965 | IPR017868-7 |
| repeat | Filamin/ABP280 repeat-like | 966 - 1061 | IPR017868-8 |
| repeat | Filamin/ABP280 repeat-like | 1062 - 1154 | IPR017868-9 |
| repeat | Filamin/ABP280 repeat-like | 1155 - 1249 | IPR017868-10 |
| repeat | Filamin/ABP280 repeat-like | 1250 - 1349 | IPR017868-11 |
| repeat | Filamin/ABP280 repeat-like | 1350 - 1442 | IPR017868-12 |
| repeat | Filamin/ABP280 repeat-like | 1443 - 1539 | IPR017868-13 |
| repeat | Filamin/ABP280 repeat-like | 1540 - 1636 | IPR017868-14 |
| repeat | Filamin/ABP280 repeat-like | 1640 - 1740 | IPR017868-15 |
| repeat | Filamin/ABP280 repeat-like | 1779 - 1860 | IPR017868-16 |
| repeat | Filamin/ABP280 repeat-like | 1860 - 1952 | IPR017868-17 |
| repeat | Filamin/ABP280 repeat-like | 1950 - 2039 | IPR017868-18 |
| repeat | Filamin/ABP280 repeat-like | 2042 - 2134 | IPR017868-19 |
| repeat | Filamin/ABP280 repeat-like | 2132 - 2230 | IPR017868-20 |
| repeat | Filamin/ABP280 repeat-like | 2233 - 2325 | IPR017868-21 |
| repeat | Filamin/ABP280 repeat-like | 2327 - 2420 | IPR017868-22 |
| repeat | Filamin/ABP280 repeat-like | 2424 - 2516 | IPR017868-23 |
| repeat | Filamin/ABP280 repeat-like | 2552 - 2646 | IPR017868-24 |
Functions
19 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| actin filament bundle | An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| axonal growth cone | The migrating motile tip of a growing nerve cell axon. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| 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. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| Myb complex | A multisubunit complex consisting of Myb and other proteins that regulates site specific DNA replication, gene amplification and transcriptional repression. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| Fc-gamma receptor I complex binding | Binding to one or more specific sites on the Fc-gamma receptor I complex. The complex functions primarily as an activating receptor for IgG. |
| G protein-coupled receptor binding | Binding to a G protein-coupled receptor. |
| GTPase binding | Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| potassium channel regulator activity | Binds to and modulates the activity of a potassium channel. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase C binding | Binding to protein kinase C. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| small GTPase binding | Binding to a small monomeric GTPase. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
37 GO annotations of biological process
| Name | Definition |
|---|---|
| actin crosslink formation | The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes. |
| actin cytoskeleton reorganization | A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins. |
| adenylate cyclase-inhibiting dopamine receptor signaling pathway | An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor, and ending with the regulation of a downstream cellular process. |
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| blood vessel remodeling | The reorganization or renovation of existing blood vessels. |
| cell-cell junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells. |
| 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. |
| cytoplasmic sequestering of protein | The selective interaction of a protein with specific molecules in the cytoplasm, thereby inhibiting its transport into other areas of the cell. |
| early endosome to late endosome transport | The directed movement of substances, in membrane-bounded vesicles, from the early sorting endosomes to the late sorting endosomes; transport occurs along microtubules and can be experimentally blocked with microtubule-depolymerizing drugs. |
| epithelial to mesenchymal transition | A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| establishment of protein localization | The directed movement of a protein to a specific location. |
| heart morphogenesis | The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| mitotic spindle assembly | Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| negative regulation of protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process. |
| negative regulation of transcription by RNA polymerase I | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase I. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| positive regulation of axon regeneration | Any process that activates, maintains or increases the rate of axon regeneration. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of integrin-mediated signaling pathway | Any process that activates or increases the frequency, rate or extent of integrin-mediated signaling pathway. |
| positive regulation of potassium ion transmembrane transport | Any process that activates or increases the frequency, rate or extent of potassium ion transmembrane transport. |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| positive regulation of substrate adhesion-dependent cell spreading | Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
| protein localization to cell surface | A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| receptor clustering | The receptor metabolic process that results in grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response. |
| regulation of actin filament bundle assembly | Any process that modulates the frequency, rate or extent of the assembly of actin filament bundles. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| regulation of membrane repolarization during atrial cardiac muscle cell action potential | Any process that modulates the frequency, rate or extent of membrane repolarization during atrial cardiac muscle cell action potential. |
| regulation of membrane repolarization during cardiac muscle cell action potential | Any process that modulates the frequency, rate or extent of membrane repolarization during cardiac muscle cell action potential. |
| semaphorin-plexin signaling pathway | The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand. |
| synapse organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
| tubulin deacetylation | The removal of an acetyl group from tubulin. An acetyl group is CH3CO-, derived from acetic |
| wound healing, spreading of cells | The migration of a cell along or through a wound gap that contributes to the reestablishment of a continuous surface. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSSHSRAGQ | SAAGAAPGGG | VDTRDAEMPA | TEKDLAEDAP | WKKIQQNTFT | RWCNEHLKCV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SKRIANLQTD | LSDGLRLIAL | LEVLSQKKMH | RKHNQRPTFR | QMQLENVSVA | LEFLDRESIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVSIDSKAIV | DGNLKLILGL | IWTLILHYSI | SMPMWDEEED | EEAKKQTPKQ | RLLGWIQNKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQLPITNFSR | DWQSGRALGA | LVDSCAPGLC | PDWDSWDASK | PVTNAREAMQ | QADDWLGIPQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VITPEEIVDP | NVDEHSVMTY | LSQFPKAKLK | PGAPLRPKLN | PKKARAYGPG | IEPTGNMVKK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAEFTVETRS | AGQGEVLVYV | EDPAGHQEEA | KVTANNDKNR | TFSVWYVPEV | TGTHKVTVLF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AGQHIAKSPF | EVYVDKSQGD | ASKVTAQGPG | LEPSGNIANK | TTYFEIFTAG | AGTGEVEVVI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QDPMGQKGTV | EPQLEARGDS | TYRCSYQPTM | EGVHTVHVTF | AGVPIPRSPY | TVTVGQACNP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SACRAVGRGL | QPKGVRVKET | ADFKVYTKGA | GSGELKVTVK | GPKGEERVKQ | KDLGDGVYGF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EYYPMVPGTY | IVTITWGGQN | IGRSPFEVKV | GTECGNQKVR | AWGPGLEGGV | VGKSADFVVE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AIGDDVGTLG | FSVEGPSQAK | IECDDKGDGS | CDVRYWPQEA | GEYAVHVLCN | SEDIRLSPFM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ADIRDAPQDF | HPDRVKARGP | GLEKTGVAVN | KPAEFTVDAK | HGGKAPLRVQ | VQDNEGCPVE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ALVKDNGNGT | YSCSYVPRKP | VKHTAMVSWG | GVSIPNSPFR | VNVGAGSHPN | KVKVYGPGVA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KTGLKAHEPT | YFTVDCAEAG | QGDVSIGIKC | APGVVGPAEA | DIDFDIIRND | NDTFTVKYTP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RGAGSYTIMV | LFADQATPTS | PIRVKVEPSH | DASKVKAEGP | GLSRTGVELG | KPTHFTVNAK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AAGKGKLDVQ | FSGLTKGDAV | RDVDIIDHHD | NTYTVKYTPV | QQGPVGVNVT | YGGDPIPKSP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FSVAVSPSLD | LSKIKVSGLG | EKVDVGKDQE | FTVKSKGAGG | QGKVASKIVG | PSGAAVPCKV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| EPGLGADNSV | VRFLPREEGP | YEVEVTYDGV | PVPGSPFPLE | AVAPTKPSKV | KAFGPGLQGG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SAGSPARFTI | DTKGAGTGGL | GLTVEGPCEA | QLECLDNGDG | TCSVSYVPTE | PGDYNINILF |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ADTHIPGSPF | KAHVVPCFDA | SKVKCSGPGL | ERATAGEVGQ | FQVDCSSAGS | AELTIEICSE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| AGLPAEVYIQ | DHGDGTHTIT | YIPLCPGAYT | VTIKYGGQPV | PNFPSKLQVE | PAVDTSGVQC |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| YGPGIEGQGV | FREATTEFSV | DARALTQTGG | PHVKARVANP | SGNLTETYVQ | DRGDGMYKVE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| YTPYEEGLHS | VDVTYDGSPV | PSSPFQVPVT | EGCDPSRVRV | HGPGIQSGTT | NKPNKFTVET |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| RGAGTGGLGL | AVEGPSEAKM | SCMDNKDGSC | SVEYIPYEAG | TYSLNVTYGG | HQVPGSPFKV |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| PVHDVTDASK | VKCSGPGLSP | GMVRANLPQS | FQVDTSKAGV | APLQVKVQGP | KGLVEPVDVV |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| DNADGTQTVN | YVPSREGPYS | ISVLYGDEEV | PRSPFKVKVL | PTHDASKVKA | SGPGLNTTGV |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| PASLPVEFTI | DAKDAGEGLL | AVQITDPEGK | PKKTHIQDNH | DGTYTVAYVP | DVTGRYTILI |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| KYGGDEIPFS | PYRVRAVPTG | DASKCTVTVS | IGGHGLGAGI | GPTIQIGEET | VITVDTKAAG |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| KGKVTCTVCT | PDGSEVDVDV | VENEDGTFDI | FYTAPQPGKY | VICVRFGGEH | VPNSPFQVTA |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| LAGDQPSVQP | PLRSQQLAPQ | YTYAQGGQQT | WAPERPLVGV | NGLDVTSLRP | FDLVIPFTIK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| KGEITGEVRM | PSGKVAQPTI | TDNKDGTVTV | RYAPSEAGLH | EMDIRYDNMH | IPGSPLQFYV |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| DYVNCGHVTA | YGPGLTHGVV | NKPATFTVNT | KDAGEGGLSL | AIEGPSKAEI | SCTDNQDGTC |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| SVSYLPVLPG | DYSILVKYNE | QHVPGSPFTA | RVTGDDSMRM | SHLKVGSAAD | IPINISETDL |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| SLLTATVVPP | SGREEPCLLK | RLRNGHVGIS | FVPKETGEHL | VHVKKNGQHV | ASSPIPVVIS |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| QSEIGDASRV | RVSGQGLHEG | HTFEPAEFII | DTRDAGYGGL | SLSIEGPSKV | DINTEDLEDG |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| TCRVTYCPTE | PGNYIINIKF | ADQHVPGSPF | SVKVTGEGRV | KESITRRRRA | PSVANVGSHC |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| DLSLKIPEIS | IQDMTAQVTS | PSGKTHEAEI | VEGENHTYCI | RFVPAEMGTH | TVSVKYKGQH |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| VPGSPFQFTV | GPLGEGGAHK | VRAGGPGLER | AEAGVPAEFS | IWTREAGAGG | LAIAVEGPSK |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| AEISFEDRKD | GSCGVAYVVQ | EPGDYEVSVK | FNEEHIPDSP | FVVPVASPSG | DARRLTVSSL |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| QESGLKVNQP | ASFAVSLNGA | KGAIDAKVHS | PSGALEECYV | TEIDQDKYAV | RFIPRENGVY |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| LIDVKFNGTH | IPGSPFKIRV | GEPGHGGDPG | LVSAYGAGLE | GGVTGNPAEF | VVNTSNAGAG |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| ALSVTIDGPS | KVKMDCQECP | EGYRVTYTPM | APGSYLISIK | YGGPYHIGGS | PFKAKVTGPR |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| LVSNHSLHET | SSVFVDSLTK | ATCAPQHGAP | GPGPADASKV | VAKGLGLSKA | YVGQKSSFTV |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| DCSKAGNNML | LVGVHGPRTP | CEEILVKHVG | SRLYSVSYLL | KDKGEYTLVV | KWGDEHIPGS |
| PYRVVVP |