Q9BXL7
EV
Gene name |
CARD11 |
Protein name |
Caspase recruitment domain-containing protein 11 |
Names |
CARD-containing MAGUK protein 1, Carma 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84433 |
EC number |
|
Protein Class |
CASPASE RECRUITMENT DOMAIN FAMILY (PTHR14559) |
Descriptions
CARD11 is a multidomain adapter that is required for TCR signaling to the IκB kinase (IKK) complex. CARD11 has an inhibitory domain (ID) that controls the association of CARD11 with multiple signaling cofactors through an interaction that requires both the caspase recruitment domain (CARD) and the coiled-coil domain. The ID that functions to keep CARD11 inactive in the absence of TCR signaling targets both the CARD and the coiled-coil domains of CARD11. Upon signaling, the ID would disengage the other portions of CARD11 and allow the signal-induced recruitment of other signaling cofactors.
Autoinhibitory domains (AIDs)
Target domain |
2-115 (CARD domain); 152-447 (Coiled-coil domain) |
Relief mechanism |
PTM |
Assay |
Split protein assay, Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9BXL7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4JUP | X-ray | 320 A | A/B | 21-116 | PDB |
| 4LWD | X-ray | 179 A | A | 18-110 | PDB |
| AF-Q9BXL7-F1 | Predicted | AlphaFoldDB |
778 variants for Q9BXL7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000540862 rs1554276653 CA366647963 COSM1673008 |
30 | R>Q | Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11 (imd11) central_nervous_system [ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000528697 CA366647967 rs145474800 |
30 | R>W | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651145 rs765680532 CA4132883 |
47 | R>H | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA203896 rs794729673 COSM41654 RCV000185616 |
49 | C>Y | BENTA disease Immunodeficiency 11 (imd11) haematopoietic_and_lymphoid_tissue [ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA366647826 rs1282104067 RCV000703759 |
50 | K>N | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554276629 CA366647723 RCV000651141 |
65 | M>V | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs571517554 COSM220937 CA185998 RCV001850281 RCV000162028 |
123 | G>D | BENTA disease Severe combined immunodeficiency due to CARD11 deficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000041969 CA143685 VAR_069710 COSM41655 rs387907352 |
123 | G>S | BENTA disease Immunodeficiency 11 (imd11) haematopoietic_and_lymphoid_tissue BENTA; results in protein aggregation; constitutive activation of NF-kappa-B signaling [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP |
|
rs1554276147 RCV000540112 COSM220933 CA366647263 |
130 | F>I | Severe combined immunodeficiency due to CARD11 deficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000695250 CA366647251 rs1562494873 |
131 | L>R | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs387907351 VAR_069711 CA143684 RCV000041968 |
134 | E>G | BENTA disease BENTA; results in protein aggregation; constitutive activation of NF-kappa-B signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1562494844 CA366647167 RCV000699944 |
143 | K>* | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA366647161 RCV000547896 rs1267789041 |
144 | A>T | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA366647028 RCV000701464 rs1562494757 |
164 | K>T | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA157842 COSM30440 rs147264763 RCV000120455 RCV000704118 |
191 | N>S | kidney Severe combined immunodeficiency due to CARD11 deficiency haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1562492241 RCV000768166 CA366646335 |
261 | P>S | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001869352 rs771790639 CA4132706 RCV000987814 |
292 | R>C | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000553340 rs149430714 CA366645956 |
315 | D>E | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA366645886 rs761421227 RCV000698220 |
325 | N>K | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000681641 rs751008087 CA4132634 |
379 | R>Q | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1583397573 CA366645378 RCV001036327 |
396 | C>G | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562490891 COSM85864 CA366645339 RCV000693542 |
401 | D>V | Severe combined immunodeficiency due to CARD11 deficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000698795 CA4132590 rs79513324 |
408 | R>H | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4132566 RCV000690706 rs760856731 |
439 | S>F | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1583394247 CA366644890 RCV000824438 |
467 | P>L | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001262759 rs1780018184 |
480 | S>L | BENTA disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA366644587 RCV000697387 rs1562488034 |
512 | S>C | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000651159 CA157806 rs74876622 RCV000120437 |
527 | H>Q | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA157802 RCV000556723 RCV000120435 rs41515445 |
530 | E>D | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148753096 RCV000120439 RCV000651156 CA157810 |
537 | S>T | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651161 rs147687933 CA157804 RCV000120436 |
544 | I>L | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA366643946 RCV000693725 rs1562484010 |
604 | D>N | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA157820 RCV000120444 RCV000688408 rs78443994 |
659 | V>M | Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11 (imd11) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651148 rs141482196 CA4132241 |
662 | P>T | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs562372731 RCV001871837 CA4132222 RCV001332676 |
687 | A>T | BENTA disease Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000120442 rs41493047 RCV000545247 CA157816 |
687 | A>V | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA157818 rs143049136 RCV000120443 COSM1622759 RCV000707585 |
707 | R>C | Severe combined immunodeficiency due to CARD11 deficiency liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4132106 RCV000704820 rs376539147 |
817 | A>T | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA366642401 RCV000651149 rs1554271741 |
837 | R>* | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA366642293 RCV000704415 rs1562480665 |
851 | H>Q | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1175860108 RCV000699155 CA366642143 |
874 | P>L | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000120450 CA157832 RCV000703029 rs140097633 |
881 | S>G | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4132006 RCV000693254 RCV000764710 rs368119340 |
912 | R>Q | Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11 (imd11) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4131984 RCV000651147 COSM1645262 rs775400791 |
934 | S>L | Severe combined immunodeficiency due to CARD11 deficiency large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000041970 rs397514686 CA143686 |
945 | Q>* | Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11 (imd11) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61757651 RCV001054403 |
971 | C>W | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795307 RCV000484392 CA16618450 RCV000499590 VAR_079286 |
975 | R>W | IMD11B; no effect on protein abundance; dominant negative effect on NF-kappaB signaling; dominant negative effect on TORC1 signaling Immunodeficiency 11b with atopic dermatitis [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs147381531 RCV000558583 RCV000120452 CA157836 |
1009 | V>I | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4131863 RCV000534473 rs375727923 |
1021 | E>D | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651146 CA4131856 rs759214987 |
1032 | N>S | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1178617871 RCV000703578 CA366641102 |
1034 | F>Y | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000705964 rs1562476878 CA366641087 |
1036 | C>Y | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000120454 RCV000651162 CA157840 rs147422861 |
1152 | D>N | Severe combined immunodeficiency due to CARD11 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1208108119 CA366648161 |
3 | G>E | No |
ClinGen TOPMed |
|
|
CA366648151 rs1258227375 |
5 | G>R | No |
ClinGen TOPMed |
|
|
CA4132894 rs191347765 |
6 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368132142 CA152755926 |
8 | M>R | No |
ClinGen ESP TOPMed |
|
|
CA366648105 rs1403650501 |
11 | Y>C | No |
ClinGen gnomAD |
|
|
COSM452940 rs1192456063 CA366648079 |
14 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1053147582 CA152755905 |
17 | D>G | No |
ClinGen TOPMed |
|
|
CA152755890 rs775081227 |
21 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1583410862 CA366647972 |
29 | N>T | No |
ClinGen Ensembl |
|
|
RCV000762445 rs1562496455 CA366647960 |
31 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA366647951 rs1236228710 |
32 | M>T | No |
ClinGen gnomAD |
|
|
rs1359873709 CA366647953 |
32 | M>V | No |
ClinGen TOPMed |
|
|
CA4132885 rs758661288 |
36 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA366647864 rs1328168126 |
45 | Y>H | No |
ClinGen gnomAD |
|
|
CA366647752 rs1583410780 |
60 | V>E | No |
ClinGen Ensembl |
|
|
rs1583410771 CA366647726 |
64 | P>R | No |
ClinGen Ensembl |
|
|
rs1376968211 CA366647707 |
67 | P>S | No |
ClinGen gnomAD |
|
|
CA4132878 rs772688973 |
73 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA152755807 rs950377099 |
73 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1064795280 CA16618451 |
75 | R>Q | No |
ClinGen Ensembl |
|
|
rs1284839637 CA366647637 |
77 | L>V | No |
ClinGen gnomAD |
|
|
RCV001091306 rs1780440992 |
80 | L>P | No |
ClinVar dbSNP |
|
|
CA366647602 rs1366307164 |
82 | T>A | No |
ClinGen gnomAD |
|
|
CA366647579 rs1403157349 |
85 | Q>R | No |
ClinGen gnomAD |
|
|
rs1407244585 CA366647536 COSM3431535 |
91 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA366647457 rs1424722453 |
102 | L>P | No |
ClinGen gnomAD |
|
|
CA366647323 rs1450598321 |
121 | E>K | No |
ClinGen gnomAD |
|
|
CA366647285 rs1423056320 |
126 | G>A | No |
ClinGen gnomAD |
|
|
CA152753948 rs745937738 |
140 | Q>E | No |
ClinGen Ensembl |
|
|
CA4132816 RCV000482640 rs766319712 |
141 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1490689453 CA366647174 |
142 | M>T | No |
ClinGen gnomAD |
|
|
CA4132811 rs367560107 |
150 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370743808 CA4132810 |
151 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4132809 rs746128282 |
152 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1020902917 CA152753902 |
156 | L>F | No |
ClinGen Ensembl |
|
|
rs781530962 CA4132808 |
157 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879145479 CA152753890 |
159 | L>V | No |
ClinGen gnomAD |
|
|
rs1172632459 COSM1569029 CA366647059 |
160 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201775572 CA152753886 |
161 | D>G | No |
ClinGen Ensembl |
|
|
CA4132807 rs757676098 |
164 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778144020 CA4132805 |
167 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4132803 rs752168482 |
168 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1089018 CA152753845 rs753614569 |
170 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766268425 COSM239147 CA4132799 |
170 | R>H | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4132800 rs753614569 |
170 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41319046 CA4132797 |
171 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA152753797 rs888843115 |
176 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866164446 CA152753772 |
183 | M>I | No |
ClinGen Ensembl |
|
|
CA4132791 rs776851359 |
187 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304533844 CA366646856 |
190 | Y>N | No |
ClinGen TOPMed |
|
|
CA4132787 rs747351557 |
195 | V>I | Immunodeficiency 11 (imd11) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM674177 CA4132786 rs747351557 |
195 | V>L | Immunodeficiency 11 (imd11) haematopoietic_and_lymphoid_tissue [Ensembl, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs587778153 CA157844 RCV000120456 |
197 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1201249225 CA366646808 |
197 | V>M | No |
ClinGen gnomAD |
|
|
rs766134730 CA4132783 |
206 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA366646732 rs1237589286 COSM3358122 |
207 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1311406242 CA366646720 |
209 | A>T | No |
ClinGen gnomAD |
|
|
rs750210198 CA4132781 |
212 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA366646692 rs1375885805 |
213 | E>Q | No |
ClinGen gnomAD |
|
|
rs1230411061 CA366646656 |
217 | M>I | No |
ClinGen gnomAD |
|
|
CA4132780 rs767395417 |
217 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA366646643 rs1583406509 |
219 | V>G | No |
ClinGen Ensembl |
|
|
CA152753666 COSM1450279 rs1037289774 |
222 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM85860 rs1424743206 CA366646620 |
222 | S>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1399673665 CA366646616 COSM3788268 |
223 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA366646599 rs1404170214 |
226 | Q>* | Immunodeficiency 11 (imd11) [Ensembl] | No |
ClinGen TOPMed |
|
CA366646543 rs1398886179 |
231 | Q>H | No |
ClinGen gnomAD |
|
|
CA366646525 COSM1450269 rs1583400914 |
234 | H>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA4132755 rs148083162 |
235 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766516628 CA4132756 |
235 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366646506 rs1187246308 |
237 | N>S | No |
ClinGen TOPMed |
|
|
CA366646502 rs1478341475 |
238 | K>Q | No |
ClinGen gnomAD |
|
|
rs868565027 CA152750234 |
239 | M>I | No |
ClinGen Ensembl |
|
|
rs541337893 CA4132752 |
239 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1477549003 CA366646458 |
243 | C>F | No |
ClinGen gnomAD |
|
|
CA366646451 COSM1450267 rs1247305409 |
244 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774959606 CA4132751 |
251 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs749861673 CA4132749 |
256 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1480323349 CA366646370 |
256 | D>Y | No |
ClinGen gnomAD |
|
|
rs1445058692 COSM133704 CA366646361 |
257 | I>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA366646322 rs1157667470 |
263 | K>E | No |
ClinGen TOPMed |
|
|
rs866806494 CA152750200 |
263 | K>N | No |
ClinGen Ensembl |
|
|
CA4132747 rs769402864 |
264 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA366646298 RCV000788908 COSM85866 rs1583400791 |
266 | V>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1004885268 COSM1450265 CA152750175 |
266 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA152750146 rs376973386 |
268 | E>D | No |
ClinGen ESP |
|
|
CA366646278 rs1402074557 |
270 | E>Q | No |
ClinGen TOPMed |
|
|
CA4132742 rs777590674 |
271 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152750127 COSM249449 rs897102417 |
271 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1402846702 CA366646244 |
275 | M>V | No |
ClinGen gnomAD |
|
|
rs369400222 CA4132741 |
277 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4132740 rs752695089 |
279 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs563898269 CA152750094 |
286 | I>V | No |
ClinGen Ensembl |
|
|
CA366646128 rs1331618139 |
290 | G>R | No |
ClinGen gnomAD |
|
|
CA4132705 rs747972220 |
292 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132704 rs144701272 |
293 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238883302 CA366646100 |
294 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366646098 rs1378452081 |
295 | P>A | No |
ClinGen gnomAD |
|
|
CA4132702 rs749225456 |
297 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs376628541 CA152749175 |
307 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs370704955 CA4132699 |
309 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4132698 COSM1450261 rs778171630 |
309 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4132695 rs765556434 |
314 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132694 rs377615302 |
315 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1583399528 CA366645924 |
320 | V>G | No |
ClinGen Ensembl |
|
|
CA366645927 rs1302816883 |
320 | V>I | No |
ClinGen TOPMed |
|
|
rs772815458 CA4132690 |
321 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363784961 CA366645899 |
324 | Y>H | No |
ClinGen TOPMed |
|
|
rs1583399500 CA366645889 |
325 | N>T | No |
ClinGen Ensembl |
|
|
rs1583399494 CA366645880 |
326 | L>R | No |
ClinGen Ensembl |
|
|
CA366645875 rs1583399489 |
327 | Q>R | No |
ClinGen Ensembl |
|
|
rs1437053993 CA366645867 |
328 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1583399478 CA366645860 |
329 | E>G | No |
ClinGen Ensembl |
|
|
CA366645855 rs1583399475 |
330 | A>P | No |
ClinGen Ensembl |
|
|
rs1458284986 CA366645847 |
331 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4132687 rs768652824 |
331 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458284986 CA366645849 |
331 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1474744657 CA366645843 |
332 | Q>E | No |
ClinGen gnomAD |
|
|
CA366645830 rs1293205909 |
334 | E>K | No |
ClinGen TOPMed |
|
|
rs138920531 CA4132686 |
337 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM43451 CA4132685 rs749237424 |
337 | R>Q | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366645745 rs1278372838 |
344 | K>R | No |
ClinGen gnomAD |
|
|
rs866477653 CA152748543 |
346 | D>N | No |
ClinGen Ensembl |
|
|
rs768739258 CA4132641 |
351 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366645687 rs1583398561 |
352 | S>L | No |
ClinGen Ensembl |
|
|
rs1399600925 CA366645658 COSM41660 |
357 | D>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs141333469 CA4132639 |
358 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366645632 COSM1450258 rs1419744975 |
360 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM85862 rs756532059 CA4132638 |
361 | Y>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1468944659 CA366645616 |
362 | K>N | No |
ClinGen gnomAD |
|
|
CA152748490 rs867822144 |
364 | R>H | No |
ClinGen Ensembl |
|
|
CA366645593 rs1363524697 COSM222114 |
365 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4132637 rs746318779 |
367 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA366645582 rs1188675666 |
367 | T>S | No |
ClinGen gnomAD |
|
|
CA4132635 rs756740318 |
368 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs992263343 CA152748466 |
377 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1349696922 CA366645517 |
377 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs763696652 CA4132633 |
380 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4132602 rs776851896 |
382 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366645473 rs1583397635 |
382 | A>P | No |
ClinGen Ensembl |
|
|
rs776851896 CA366645470 |
382 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132600 rs747416751 |
384 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1252273985 CA366645448 COSM354893 |
386 | R>* | lung endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA366645410 rs747684640 |
391 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4132597 rs747684640 |
391 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs539601024 CA4132596 |
392 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753594488 CA4132594 |
394 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1231427954 CA366645346 |
400 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1182014565 CA366645326 |
403 | Y>H | No |
ClinGen TOPMed |
|
|
CA152747563 rs1053219257 |
408 | R>C | No |
ClinGen gnomAD |
|
|
CA152747557 rs79513324 |
408 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1583397536 CA366645285 COSM3942171 |
409 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1314908621 CA366645277 |
410 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA152747538 rs867349457 |
413 | K>N | No |
ClinGen Ensembl |
|
|
CA366645256 rs1159128251 |
413 | K>Q | No |
ClinGen gnomAD |
|
|
rs6945582 CA4132583 |
415 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6945582 CA366645235 |
415 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366645241 rs1402987893 |
415 | D>N | No |
ClinGen TOPMed |
|
|
rs1562490836 CA366645234 |
416 | E>K | No |
ClinGen Ensembl |
|
|
CA4132581 rs773541566 |
417 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772685938 CA4132580 |
420 | E>K | No |
ClinGen ExAC |
|
|
rs372864426 CA157846 RCV000120457 |
421 | M>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366645189 rs1485034276 |
422 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs577877958 CA4132576 COSM173991 |
423 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM41662 rs748839211 CA4132577 |
423 | R>W | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4132575 rs564294642 |
424 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1199570 CA366645179 rs1225008718 |
424 | R>W | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA152747473 rs899168208 |
425 | E>G | No |
ClinGen Ensembl |
|
|
rs1380220256 CA366645166 |
426 | A>D | No |
ClinGen gnomAD |
|
|
rs781002413 CA4132573 |
428 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1298741148 CA366645149 |
429 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751553120 CA4132571 |
430 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366645110 rs1583397352 |
434 | K>M | No |
ClinGen Ensembl |
|
|
CA152747425 rs765239761 |
436 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765239761 CA4132570 |
436 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152747456 rs1044557293 |
436 | R>W | No |
ClinGen TOPMed |
|
|
rs755090332 CA4132569 |
437 | R>H | No |
ClinGen ExAC |
|
|
CA4132567 rs760856731 |
439 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs911962632 CA152747398 |
442 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366645069 rs1474600627 |
442 | S>R | No |
ClinGen gnomAD |
|
|
rs1263192590 CA366645065 |
442 | S>T | No |
ClinGen gnomAD |
|
|
rs1196536485 CA366645061 |
443 | N>H | No |
ClinGen Ensembl |
|
|
CA366645056 rs992329745 |
443 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4132564 rs768061704 |
443 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152745034 rs868593694 |
450 | P>S | No |
ClinGen Ensembl |
|
|
rs763500647 CA4132523 |
451 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4132522 rs753153863 |
452 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs201444332 CA4132520 |
453 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366644969 rs1302973411 |
455 | V>A | No |
ClinGen gnomAD |
|
|
rs1436011474 CA366644967 |
456 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs866316136 CA152744984 |
456 | T>I | No |
ClinGen Ensembl |
|
|
CA366644959 rs1312637369 |
457 | I>N | No |
ClinGen TOPMed |
|
|
rs1562489469 CA366644961 |
457 | I>V | No |
ClinGen Ensembl |
|
|
rs1454114930 CA366644953 |
458 | I>F | No |
ClinGen gnomAD |
|
|
CA4132518 rs145049015 |
458 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152744981 rs767415656 |
460 | Q>H | No |
ClinGen Ensembl |
|
|
rs760359207 CA4132517 |
461 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1583394267 CA366644936 |
461 | D>N | No |
ClinGen Ensembl |
|
|
rs1001628016 CA152744963 |
463 | G>W | No |
ClinGen TOPMed |
|
|
rs1417615726 CA366644914 |
464 | D>Y | No |
ClinGen gnomAD |
|
|
COSM4162138 CA4132516 rs773057170 |
465 | A>G | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs549960740 CA4132515 |
468 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4132514 rs748061559 |
468 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132512 rs769882141 |
470 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA152744955 rs1004221102 |
470 | N>S | No |
ClinGen TOPMed |
|
|
CA4132510 rs781473062 |
471 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs781473062 CA4132511 |
471 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs763473945 CA4132508 |
475 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA366644838 rs1312943176 |
476 | D>H | No |
ClinGen gnomAD |
|
|
CA366644839 rs1312943176 |
476 | D>N | No |
ClinGen gnomAD |
|
|
rs1048220030 CA152744901 |
478 | S>P | No |
ClinGen TOPMed |
|
|
rs1583394201 CA366644820 |
479 | T>P | No |
ClinGen Ensembl |
|
|
rs1470210273 CA366644783 |
484 | P>R | No |
ClinGen gnomAD |
|
|
rs753205129 CA4132505 |
484 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583394168 CA366644761 |
487 | S>N | No |
ClinGen Ensembl |
|
|
rs765683724 CA4132504 |
488 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4132503 rs755527878 |
490 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA152744891 rs774763617 |
492 | P>S | No |
ClinGen Ensembl |
|
|
CA4132502 rs753312800 |
494 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765939801 CA366644709 |
495 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132500 rs760308478 COSM178523 |
495 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4132501 rs765939801 |
495 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867355070 CA152744880 |
496 | P>L | No |
ClinGen Ensembl |
|
|
rs767276756 CA4132498 |
498 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366644691 rs761547989 |
498 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4132497 rs761547989 |
498 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4132496 rs774299169 |
499 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1447566156 CA366644685 |
499 | R>S | No |
ClinGen gnomAD |
|
|
CA366644678 rs1286226733 |
500 | M>I | No |
ClinGen gnomAD |
|
|
CA366644680 rs1469565828 |
500 | M>T | No |
ClinGen gnomAD |
|
|
rs926519209 CA152744870 |
500 | M>V | No |
ClinGen Ensembl |
|
|
rs1203200420 CA366644669 |
501 | N>K | No |
ClinGen gnomAD |
|
|
rs1234670351 CA366644651 |
504 | G>D | No |
ClinGen gnomAD |
|
|
CA4132494 rs749281735 |
504 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776835063 CA4132493 |
505 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4132474 rs771090841 |
508 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1443528667 CA366644611 |
509 | R>G | No |
ClinGen gnomAD |
|
|
CA366644607 rs1266655907 |
509 | R>K | No |
ClinGen TOPMed |
|
|
CA4132473 rs747077612 |
510 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204092415 CA366644598 |
511 | K>E | No |
ClinGen TOPMed |
|
|
rs773388824 CA4132472 |
513 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1421653643 CA366644576 |
514 | I>T | No |
ClinGen gnomAD |
|
|
rs772152486 CA366644566 |
515 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs748468563 CA366644550 |
518 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748468563 CA4132470 |
518 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395586412 CA366644543 |
519 | T>I | No |
ClinGen gnomAD |
|
|
CA4132467 rs749730617 |
520 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000489249 rs755350456 CA4132468 |
520 | S>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs901997929 CA152742902 |
524 | A>T | No |
ClinGen TOPMed |
|
|
rs758171047 CA4132441 |
526 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4132442 rs777588257 |
526 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM287643 rs367917190 CA4132438 |
528 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4132436 rs41515445 |
530 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1355345452 CA366644459 |
530 | E>K | No |
ClinGen TOPMed |
|
|
rs201780608 RCV000120438 COSM1580647 CA157808 |
532 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199873591 CA4132431 |
534 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202014429 CA4132432 |
534 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1279654075 CA366644427 |
535 | S>N | No |
ClinGen TOPMed |
|
|
CA4132430 rs770294938 |
536 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132429 rs545614113 |
536 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366644418 rs1335720745 |
537 | S>G | No |
ClinGen gnomAD |
|
|
CA4132428 rs747866557 |
538 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4132427 rs747866557 |
538 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs112690795 CA4132425 |
540 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112690795 CA366644399 |
540 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4132424 rs753678528 |
542 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4132423 rs766363308 |
543 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs147687933 CA366644379 |
544 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4132422 rs200698780 |
545 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4132421 rs764228921 |
546 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366644327 rs1432338033 |
551 | M>I | No |
ClinGen TOPMed |
|
|
CA4132396 rs138608490 |
553 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4132395 rs138608490 |
553 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138608490 CA366644303 |
553 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4132397 rs778162676 |
553 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778162676 CA152736495 |
553 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA366644297 rs1385938370 |
554 | P>H | No |
ClinGen gnomAD |
|
|
rs748963963 CA4132392 |
555 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779888619 CA4132390 |
555 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs748963963 CA4132391 |
555 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152736434 rs763859263 |
556 | S>G | No |
ClinGen gnomAD |
|
|
rs769593896 CA4132387 |
556 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs781126781 CA4132385 |
557 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA152736414 rs1012368675 |
557 | R>H | No |
ClinGen gnomAD |
|
|
rs896611880 CA152736412 |
558 | S>C | No |
ClinGen Ensembl |
|
|
rs757230522 CA4132384 |
558 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432865887 CA366644280 |
558 | S>R | No |
ClinGen gnomAD |
|
|
rs1251482018 CA366644274 |
559 | S>N | No |
ClinGen gnomAD |
|
|
rs1373259394 CA366644258 |
561 | M>K | No |
ClinGen TOPMed |
|
|
CA366644261 rs1583385663 |
561 | M>L | No |
ClinGen Ensembl |
|
|
rs1482088893 CA366644242 |
563 | I>M | No |
ClinGen gnomAD |
|
|
rs1037942671 CA152736400 |
564 | T>I | No |
ClinGen TOPMed |
|
|
CA4132380 rs754019245 |
566 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1384240860 CA366644190 |
571 | D>E | No |
ClinGen TOPMed |
|
|
CA366644197 COSM1698336 rs1308634122 |
571 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA152736366 rs773909937 |
574 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773909937 CA4132374 |
574 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768111864 CA4132373 |
576 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1377769236 CA366644144 |
579 | E>K | No |
ClinGen gnomAD |
|
|
rs775014401 CA366644131 |
580 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132372 rs762612040 |
580 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3663142 RCV000120440 CA157812 rs75403455 |
581 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1161484391 CA366644125 |
581 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1583385573 CA366644114 |
583 | H>R | No |
ClinGen Ensembl |
|
|
rs1251262286 CA366644108 |
584 | R>C | No |
ClinGen gnomAD |
|
|
rs1188731718 CA366644107 |
584 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1188731718 CA366644105 |
584 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366644101 rs1486640056 |
585 | S>N | No |
ClinGen gnomAD |
|
|
CA366644055 rs1368676658 |
590 | D>N | No |
ClinGen TOPMed |
|
|
CA4132326 rs567929694 COSM3431532 |
594 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs758980337 CA4132325 |
595 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA366644009 rs1475727428 |
596 | F>C | No |
ClinGen gnomAD |
|
|
rs752196129 CA4132324 |
596 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs145836432 CA366643998 |
598 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145836432 CA4132322 |
598 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4132320 rs766156349 |
600 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1303029402 CA366643977 |
601 | L>P | No |
ClinGen TOPMed |
|
|
rs1178017685 CA366643937 |
605 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4132290 rs571526682 |
606 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571526682 CA366643923 |
606 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1215967672 CA366643917 |
607 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4132288 rs755527825 |
607 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1496622 rs200736339 CA4132287 |
608 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA157814 COSM3411969 rs587778150 RCV000120441 |
608 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs200736339 CA152731931 |
608 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1273116310 CA366643900 |
610 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA366643890 rs755710637 |
612 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755710637 CA4132285 |
612 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267601476 CA152731902 |
615 | S>F | No |
ClinGen Ensembl |
|
|
CA366643863 rs1212705543 |
616 | I>S | No |
ClinGen gnomAD |
|
|
CA366643858 rs1243322928 |
617 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA152731901 rs950825799 |
620 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366643824 rs1562483957 |
623 | H>Y | No |
ClinGen Ensembl |
|
|
rs551716345 CA4132282 |
624 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1286585074 CA366643801 |
626 | E>* | No |
ClinGen gnomAD |
|
|
CA4132279 rs764105086 |
627 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs531506748 CA152731889 |
629 | D>H | No |
ClinGen 1000Genomes |
|
|
rs1419000024 COSM159746 CA366643764 |
632 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4132273 rs760754129 |
638 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA366643701 rs1475219771 |
640 | F>L | No |
ClinGen gnomAD |
|
|
CA366643653 rs1365890400 |
647 | R>I | No |
ClinGen TOPMed |
|
|
rs769143853 CA4132248 |
648 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs780894425 CA4132246 |
650 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4132247 COSM1088992 rs745349548 |
650 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA152730900 rs375150012 |
651 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA366643608 rs1441255960 |
653 | V>D | No |
ClinGen gnomAD |
|
|
CA366643611 rs1296597685 |
653 | V>I | No |
ClinGen gnomAD |
|
|
CA366643602 rs1310083278 |
654 | T>N | No |
ClinGen TOPMed |
|
|
CA366643581 rs1369262980 |
658 | H>N | No |
ClinGen gnomAD |
|
|
CA152730858 rs752956052 |
658 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366643579 rs1369262980 |
658 | H>Y | No |
ClinGen gnomAD |
|
|
CA366643568 rs1349831751 |
660 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs147006022 CA4132243 |
660 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM252408 rs1349831751 CA366643569 |
660 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA366643562 rs1388766805 |
661 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA366643563 rs1388766805 |
661 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4132242 rs752538590 |
661 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366643558 rs1423243128 |
662 | P>L | No |
ClinGen TOPMed |
|
|
CA4132240 rs147823569 |
665 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366643538 rs1488162720 |
666 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1275266365 CA366643528 |
667 | Q>R | No |
ClinGen gnomAD |
|
|
CA4132238 COSM1450246 rs186255478 |
669 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4132236 VAR_028117 rs3735134 |
670 | T>M | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA152730802 rs369830451 |
670 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA366643491 rs1309300233 |
673 | G>D | No |
ClinGen gnomAD |
|
|
CA4132233 rs372356014 |
673 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA152730785 rs1016457945 |
674 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA366643472 rs1466824771 |
676 | L>F | No |
ClinGen gnomAD |
|
|
rs770581830 CA4132229 |
677 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250533724 CA366643445 |
680 | L>P | No |
ClinGen Ensembl |
|
|
CA4132228 rs746613945 |
680 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs142142882 CA4132225 |
683 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366643402 rs764342695 |
688 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132219 rs764342695 |
688 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396973380 CA366643401 |
689 | G>R | No |
ClinGen gnomAD |
|
|
rs1052981315 CA366643391 |
690 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1052981315 CA152730644 |
690 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4132218 rs587778151 |
692 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1088988 CA157822 RCV000120445 rs587778151 |
692 | V>M | liver endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA366643369 rs1322644157 |
693 | H>Q | No |
ClinGen TOPMed |
|
|
CA4132217 VAR_028118 rs3735133 |
694 | S>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs370496859 CA4132215 |
695 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4132214 rs770528584 |
698 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770528584 CA152730633 |
698 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366643333 rs1444062424 |
700 | L>V | No |
ClinGen gnomAD |
|
|
rs772900135 CA4132212 |
702 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1206291917 CA366643296 |
705 | G>D | No |
ClinGen gnomAD |
|
|
CA4132210 rs146070546 |
705 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366643292 rs1327786734 |
706 | L>F | No |
ClinGen gnomAD |
|
|
COSM1450244 RCV000120446 rs201948130 CA157824 |
707 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA366643280 rs1342763249 |
708 | E>G | No |
ClinGen gnomAD |
|
|
rs1311083562 CA366643276 |
709 | G>S | No |
ClinGen gnomAD |
|
|
rs1355314125 CA366643205 |
718 | C>F | No |
ClinGen TOPMed |
|
|
rs745869193 CA4132188 |
720 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA366643192 rs1275601330 COSM1731949 |
720 | R>Q | NS breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA152730073 rs999540393 |
721 | G>D | No |
ClinGen TOPMed |
|
|
CA4132187 rs560138497 |
722 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1583377412 CA366643175 |
723 | R>K | No |
ClinGen Ensembl |
|
|
rs1410406359 CA366643172 |
723 | R>S | No |
ClinGen gnomAD |
|
|
rs748364143 CA366643164 |
724 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132184 rs149937937 |
725 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4132182 rs377658907 |
727 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366643147 rs1425453938 |
727 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366643120 rs1401804212 |
731 | C>Y | No |
ClinGen gnomAD |
|
|
CA152730019 rs897809296 |
737 | H>Q | No |
ClinGen gnomAD |
|
|
rs767003107 CA4132178 |
739 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1583377328 CA366643063 |
739 | T>P | No |
ClinGen Ensembl |
|
|
CA4132177 rs761257891 |
741 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761257891 CA366643045 |
741 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366643036 rs763711318 |
743 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4132175 rs763711318 |
743 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1279773869 CA366643035 |
743 | C>Y | No |
ClinGen gnomAD |
|
|
CA366643025 rs1221207399 |
744 | S>N | No |
ClinGen gnomAD |
|
|
rs895009948 CA152729996 |
745 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs941925891 CA152729966 |
746 | P>S | No |
ClinGen gnomAD |
|
|
rs769577430 CA4132172 |
747 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM339893 rs376122142 CA157826 RCV000120447 |
748 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1003847451 CA366643005 |
748 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA152729946 rs1003847451 |
748 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1283236176 CA366642964 |
754 | N>S | No |
ClinGen TOPMed |
|
|
CA152729922 rs867239716 COSM1292494 |
756 | E>K | skin haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs568928567 CA366642928 |
757 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568928567 CA4132139 |
757 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148354898 CA4132137 |
759 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369433934 CA4132138 |
759 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4132136 rs753573166 |
763 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1248520126 CA366642893 |
763 | K>R | No |
ClinGen gnomAD |
|
|
rs534947493 RCV000120448 CA157828 |
766 | E>D | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs773303917 CA4132134 |
768 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152726866 rs954550725 |
769 | L>V | No |
ClinGen TOPMed |
|
|
CA4132133 rs768815581 |
770 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA366642831 rs1466997751 |
772 | S>L | No |
ClinGen TOPMed |
|
|
CA4132130 rs769891074 |
777 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1309055272 CA366642794 |
778 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM178516 rs1184296576 CA366642786 |
779 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1371558229 CA366642764 |
783 | N>H | No |
ClinGen gnomAD |
|
|
rs771335853 CA366642757 |
784 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs771335853 CA4132127 |
784 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747437252 CA4132126 |
787 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4132124 rs531252532 |
790 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4132123 rs531252532 |
790 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477122748 CA366642702 |
792 | T>N | No |
ClinGen TOPMed |
|
|
CA366642701 rs1477122748 COSM249427 |
792 | T>S | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs201921426 CA4132122 |
793 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs766040946 CA366642651 |
799 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA157830 rs587778152 RCV000120449 |
799 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4132118 rs760549729 |
800 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4132116 rs767537938 |
803 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895214237 CA152726728 |
804 | R>C | No |
ClinGen gnomAD |
|
|
rs760791432 CA4132115 |
804 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs752602687 CA4132114 |
804 | R>H | No |
ClinGen ExAC |
|
|
CA366642601 rs1554271763 RCV000498504 |
807 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769919255 CA4132111 |
811 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA366642561 rs146943681 |
812 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542412710 CA4132109 |
813 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs542412710 CA366642560 |
813 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366642537 rs1583372341 |
816 | C>G | No |
ClinGen Ensembl |
|
|
CA4132105 rs772566311 |
817 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132103 rs41497250 |
818 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4132102 rs41497250 |
818 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1583372305 CA366642520 |
819 | V>G | No |
ClinGen Ensembl |
|
|
rs546202880 CA152726677 |
819 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA366642517 rs1583372290 |
820 | D>A | No |
ClinGen Ensembl |
|
|
CA4132100 rs147840048 |
820 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768898724 CA152726668 |
821 | P>A | No |
ClinGen gnomAD |
|
|
CA366642512 rs768898724 |
821 | P>T | No |
ClinGen gnomAD |
|
|
CA366642506 rs1260815182 |
822 | F>V | No |
ClinGen gnomAD |
|
|
CA152726664 rs374910759 |
824 | D>E | No |
ClinGen ESP |
|
|
rs755769843 CA4132099 |
825 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152726661 rs929355549 |
825 | H>Y | No |
ClinGen TOPMed |
|
|
rs1230820912 CA366642468 |
827 | L>R | No |
ClinGen gnomAD |
|
|
CA4132096 rs757192068 |
828 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1306775800 COSM1088974 CA366642459 |
829 | M>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV001312102 rs1779483440 |
833 | P>S | No |
ClinVar dbSNP |
|
|
rs563849104 CA4132077 |
841 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366642354 rs1162658658 |
842 | L>F | No |
ClinGen gnomAD |
|
|
rs1249448542 CA366642341 |
844 | V>A | No |
ClinGen gnomAD |
|
|
CA366642331 rs1190416265 |
846 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs201141941 CA152725977 |
846 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4132075 rs753952757 |
848 | R>C | Immunodeficiency 11 (imd11) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA366642317 COSM1088971 rs1211022340 |
848 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1211022340 CA366642316 |
848 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA152725971 rs939117796 |
852 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA366642285 rs1405366406 |
853 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366642286 rs1326984535 |
853 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs928782717 CA152725948 |
855 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA152725952 rs772266095 |
855 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA366642251 rs1225343654 |
858 | V>A | No |
ClinGen gnomAD |
|
|
rs1225343654 CA366642250 |
858 | V>G | No |
ClinGen gnomAD |
|
|
rs1272092950 CA366642253 |
858 | V>L | No |
ClinGen gnomAD |
|
|
CA4132073 RCV000503179 rs368181734 COSM1568448 |
860 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1470160031 CA366642235 |
861 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1470160031 CA366642236 |
861 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4132072 rs773446799 |
862 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366642223 rs1554271573 RCV000523192 |
863 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA366642210 rs1430102723 |
864 | T>I | No |
ClinGen gnomAD |
|
|
CA4132070 rs150990488 |
866 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199780648 CA4132071 |
866 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4132069 rs774625952 |
868 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763435728 CA4132067 |
869 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769192567 CA4132068 |
869 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA366642162 rs1159215875 |
871 | T>N | No |
ClinGen gnomAD |
|
|
CA366642164 rs1583369487 |
871 | T>P | No |
ClinGen Ensembl |
|
|
CA366642146 rs1198048978 |
874 | P>T | No |
ClinGen TOPMed |
|
|
CA4132047 rs543253971 |
877 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366642117 rs1460131097 |
878 | L>I | No |
ClinGen gnomAD |
|
|
rs1209396541 CA366642107 |
880 | T>P | No |
ClinGen gnomAD |
|
|
CA4132045 rs140097633 |
881 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1583369402 RCV000788608 CA366642098 |
881 | S>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA366642092 rs1583369388 |
882 | D>A | No |
ClinGen Ensembl |
|
|
rs746650253 CA4132043 |
882 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223006535 CA366642094 |
882 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4132042 rs777569549 |
883 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366642084 rs1562480062 |
883 | P>L | No |
ClinGen Ensembl |
|
|
rs1455337069 CA366642080 |
884 | R>Q | No |
ClinGen gnomAD |
|
|
rs1450077193 CA366642082 COSM3663139 |
884 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA366642063 rs1432213803 |
887 | P>R | No |
ClinGen gnomAD |
|
|
CA4132040 rs748079791 |
887 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4132041 rs748079791 |
887 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs142828146 CA152724938 COSM108938 |
888 | R>C | lung skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA366642058 COSM1716026 rs1395288944 |
888 | R>H | small_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA366642044 rs1347465052 |
890 | S>L | No |
ClinGen gnomAD |
|
|
rs750486472 CA4132037 |
891 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4132036 rs781316312 |
898 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs551561896 CA152723355 |
902 | F>L | No |
ClinGen 1000Genomes |
|
|
CA4132011 rs180773190 |
903 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4132010 rs754422604 |
904 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA152723333 rs778030449 |
911 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4132009 rs765873261 |
911 | K>Q | No |
ClinGen ExAC |
|
|
rs368119340 CA4132005 |
912 | R>P | Immunodeficiency 11 (imd11) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1199573 CA4132007 rs772829458 |
912 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366641861 rs1197258898 |
916 | N>H | No |
ClinGen gnomAD |
|
|
rs61731201 CA152723321 |
916 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4132003 rs768451719 |
916 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs375594527 CA4132001 |
917 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4131998 rs777978995 |
919 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1325152416 CA366641834 |
920 | R>L | No |
ClinGen gnomAD |
|
|
CA4131997 rs371300769 |
923 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366641808 rs1308205443 |
925 | S>R | No |
ClinGen gnomAD |
|
|
COSM1088965 rs755425231 CA4131994 |
926 | P>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA152723289 rs934009845 |
927 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4131992 rs766775479 |
927 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs891866615 CA152723284 |
928 | G>R | No |
ClinGen TOPMed |
|
|
rs1470416365 CA366641787 |
929 | S>R | No |
ClinGen gnomAD |
|
|
rs756704988 CA4131991 |
931 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4131989 rs752709289 |
932 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752709289 CA4131988 |
932 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368431453 CA4131990 |
932 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763832244 CA4131986 |
933 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392857238 CA366641741 |
937 | A>D | No |
ClinGen TOPMed |
|
|
CA366641742 rs1394063331 |
937 | A>T | No |
ClinGen TOPMed |
|
|
CA4131980 rs772218837 |
941 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs748345115 CA4131979 |
942 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1402740533 CA366641707 |
943 | E>K | No |
ClinGen TOPMed |
|
|
rs1340282843 CA366641660 |
947 | E>G | No |
ClinGen gnomAD |
|
|
rs1284617306 CA366641675 |
947 | E>Q | No |
ClinGen TOPMed |
|
|
CA366641654 rs1583363283 |
948 | L>P | No |
ClinGen Ensembl |
|
|
rs1225276280 CA366641655 |
948 | L>V | No |
ClinGen gnomAD |
|
|
rs764904722 CA4131947 |
949 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4131946 rs754776438 |
950 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA366641633 rs959268489 |
951 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4131945 rs753626221 |
952 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs115741110 CA366641625 |
952 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366641624 rs1322611135 |
953 | E>K | No |
ClinGen gnomAD |
|
|
CA4131942 rs774507956 |
955 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs760763007 CA4131943 |
955 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA366641607 rs1355892585 |
956 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4131941 rs764280787 |
957 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1429376486 COSM4162134 CA366641585 |
959 | S>G | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1429376486 CA366641586 |
959 | S>R | No |
ClinGen gnomAD |
|
|
CA366641550 rs1170949848 |
964 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763036354 CA4131940 |
964 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1481693855 CA366641541 |
965 | L>P | No |
ClinGen gnomAD |
|
|
rs769944864 CA4131938 |
966 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4131939 rs769944864 |
966 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149857605 COSM1549682 CA4131937 |
967 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs141751925 RCV000441026 CA4131936 |
967 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM1238424 rs747530675 CA4131934 |
968 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1317431801 CA366641520 |
969 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1317431801 CA366641519 |
969 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1225312452 CA366641515 RCV000788944 |
970 | Y>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs139865911 CA4131933 |
970 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747655872 CA4131931 |
972 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754645078 CA4131929 |
973 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754645078 CA366641496 |
973 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs141681466 CA4131927 |
973 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4131928 rs141681466 |
973 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3027783 rs201847585 CA4131926 |
974 | R>C | Immunodeficiency 11 (imd11) central_nervous_system [Ensembl, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4131925 rs750407488 |
974 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764229454 CA4131924 |
975 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1172378918 CA366641480 |
977 | V>M | No |
ClinGen gnomAD |
|
|
CA366641472 rs1470681188 |
978 | L>F | No |
ClinGen gnomAD |
|
|
rs775476968 CA4131922 |
979 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs765480254 CA4131921 |
982 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs369115970 CA4131919 |
983 | V>M | Immunodeficiency 11 (imd11) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4131917 rs747477589 |
985 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA366641429 rs747477589 |
985 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs376039195 CA4131914 |
987 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1549683 rs376039195 CA4131915 |
987 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA366641366 rs1338162870 |
995 | S>L | No |
ClinGen gnomAD |
|
|
rs1334146426 CA366641356 |
997 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA152717017 rs199583353 |
999 | M>L | No |
ClinGen gnomAD |
|
|
rs1157187185 CA366641343 |
999 | M>R | No |
ClinGen gnomAD |
|
|
CA366641332 rs756003922 |
1000 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366641321 rs1583362968 |
1002 | T>P | No |
ClinGen Ensembl |
|
|
rs1460089226 CA366641312 |
1003 | I>M | No |
ClinGen gnomAD |
|
|
rs781252765 CA4131907 |
1003 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757199275 CA4131906 |
1004 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4131870 rs780981181 |
1007 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184874972 CA4131871 |
1007 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4131868 rs777550400 |
1013 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4131866 rs749370633 |
1014 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4131867 rs758388035 |
1014 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366641217 rs188292641 |
1016 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4131865 rs188292641 |
1016 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366641211 rs1251472325 |
1017 | R>K | No |
ClinGen gnomAD |
|
|
rs1206168004 CA366641195 |
1019 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA152715789 rs899595121 |
1019 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA366641192 rs899595121 |
1019 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA157834 rs116583746 RCV000120451 |
1020 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1285617653 CA366641176 |
1022 | T>N | No |
ClinGen gnomAD |
|
|
rs757527981 CA4131862 |
1023 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4131861 rs143175805 |
1026 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152715782 rs764490474 |
1027 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4131860 rs764490474 |
1027 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415600061 CA366641139 |
1028 | E>D | No |
ClinGen TOPMed |
|
|
rs1456467397 CA366641141 |
1028 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763622023 CA4131859 |
1028 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA366641123 rs112241277 |
1030 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1583360850 CA366641125 |
1030 | N>T | No |
ClinGen Ensembl |
|
|
CA366641116 rs1378226656 |
1031 | P>L | No |
ClinGen Ensembl |
|
|
rs764851271 CA4131857 |
1032 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200858011 CA4131855 |
1033 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770667388 COSM1088959 CA4131854 |
1033 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767422228 CA366641099 |
1034 | F>L | No |
ClinGen gnomAD |
|
|
COSM1088955 CA152715752 rs868687398 |
1035 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA152715746 rs201598354 |
1037 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4131852 rs201598354 |
1037 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4131849 rs199916182 |
1038 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4131848 rs374682435 |
1038 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562476840 CA366641073 |
1039 | P>S | No |
ClinGen Ensembl |
|
|
CA4131847 rs745998535 |
1042 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA366641052 rs1312043741 |
1042 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366641042 rs1583360716 |
1043 | E>D | No |
ClinGen Ensembl |
|
|
CA4131845 rs757553187 |
1043 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751861897 CA4131844 |
1044 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764556806 CA4131843 |
1044 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA366641032 rs1267283823 |
1045 | V>A | No |
ClinGen gnomAD |
|
|
rs377327574 COSM3411965 CA4131842 |
1046 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4131840 rs146334064 |
1047 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146334064 CA157838 RCV000120453 COSM1450240 |
1047 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1339634922 CA366640983 |
1051 | H>Y | No |
ClinGen gnomAD |
|
|
rs1271608151 CA366640937 |
1058 | I>F | No |
ClinGen TOPMed |
|
|
rs376446854 CA4131805 |
1059 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366640932 rs376446854 |
1059 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376446854 CA4131804 |
1059 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4131802 rs755622337 |
1060 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs779393690 CA4131803 |
1060 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366640920 rs1477116086 |
1061 | T>S | No |
ClinGen gnomAD |
|
|
rs749981451 CA4131801 |
1062 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA366640910 rs1358903936 |
1063 | D>N | No |
ClinGen gnomAD |
|
|
COSM4155716 CA366640897 rs1253214830 |
1064 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1466729511 CA366640865 |
1069 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4131799 rs761516393 |
1075 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA366640803 rs1583357684 |
1078 | V>G | No |
ClinGen Ensembl |
|
|
CA4131798 rs751285487 |
1078 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4131797 rs763963222 |
1080 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs762751101 CA4131796 |
1083 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4131767 rs746384008 |
1089 | L>P | No |
ClinGen ExAC |
|
|
rs780630414 CA4131766 |
1090 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756791068 CA4131765 |
1091 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1277693692 CA366640706 |
1091 | P>S | No |
ClinGen gnomAD |
|
|
CA4131764 rs777458922 |
1092 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs777458922 CA4131763 |
1092 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758055212 CA4131762 |
1092 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047604508 CA152709388 |
1093 | P>L | No |
ClinGen TOPMed |
|
|
CA4131760 rs764955786 |
1093 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754915218 CA4131759 |
1094 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs368574818 CA4131758 |
1095 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366640671 rs1277445812 |
1097 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366640661 rs1420757995 |
1099 | F>I | No |
ClinGen gnomAD |
|
|
rs761965340 CA4131756 |
1101 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM176354 CA4131755 rs751651073 |
1101 | R>H | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775862540 CA4131753 |
1102 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775862540 CA366640644 |
1102 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775862540 CA4131752 |
1102 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471772603 CA366640631 |
1104 | R>Q | No |
ClinGen gnomAD |
|
|
rs200963550 CA152709328 |
1104 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1166767775 CA366640619 |
1106 | K>R | No |
ClinGen TOPMed |
|
|
CA366640599 rs1362125570 |
1109 | E>K | No |
ClinGen TOPMed |
|
|
CA366640598 rs1362125570 |
1109 | E>Q | No |
ClinGen TOPMed |
|
|
rs1583352678 CA366640582 |
1111 | E>G | No |
ClinGen Ensembl |
|
|
rs10272756 CA152709304 |
1112 | A>P | No |
ClinGen Ensembl |
|
|
rs746526404 CA4131746 |
1115 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs777154448 CA4131745 |
1115 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284198313 CA366640556 |
1116 | L>M | No |
ClinGen gnomAD |
|
|
rs1467473761 CA366640533 |
1119 | T>R | No |
ClinGen gnomAD |
|
|
CA152709251 rs866680537 |
1121 | E>K | No |
ClinGen Ensembl |
|
|
rs753738160 CA4131740 |
1123 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366640508 rs753738160 |
1123 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754792738 CA4131741 |
1123 | D>G | No |
ClinGen ExAC |
|
|
rs201877328 CA4131742 |
1123 | D>N | No |
ClinGen 1000Genomes ExAC |
|
|
CA152709224 rs909425153 |
1124 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366640506 rs576383569 |
1124 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576383569 CA4131739 |
1124 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1562473091 CA366640491 |
1126 | G>S | No |
ClinGen Ensembl |
|
|
rs1424974555 CA366640486 |
1126 | G>V | No |
ClinGen gnomAD |
|
|
COSM452933 CA4131738 rs372251654 |
1128 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA366640445 rs1171346123 |
1133 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4131736 rs746125201 |
1133 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759681668 CA152709209 |
1134 | V>I | No |
ClinGen Ensembl |
|
|
rs151255440 CA366640417 |
1137 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192612448 COSM601073 CA366640421 |
1137 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs151255440 CA4131734 |
1137 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373819371 CA4131733 |
1140 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4131732 rs759870621 |
1141 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4131730 rs370705908 |
1144 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs573740263 CA4131728 |
1144 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573740263 CA4131729 |
1144 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA152709147 rs1011538202 |
1146 | T>A | No |
ClinGen Ensembl |
|
|
CA4131727 rs771514857 |
1146 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747738095 CA152709124 |
1149 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4131726 rs747738095 |
1149 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366640328 rs969649975 |
1150 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1349421171 CA366640317 |
1152 | D>G | No |
ClinGen gnomAD |
3 associated diseases with Q9BXL7
[MIM: 616452]: B-cell expansion with NFKB and T-cell anergy (BENTA)
An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. {ECO:0000269|PubMed:23129749, ECO:0000269|PubMed:28628108}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615206]: Immunodeficiency 11 A (IMD11A)
An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. {ECO:0000269|PubMed:23374270, ECO:0000269|PubMed:23561803}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617638]: Immunodeficiency 11B with atopic dermatitis (IMD11B)
An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia. {ECO:0000269|PubMed:28628108}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. {ECO:0000269|PubMed:23129749, ECO:0000269|PubMed:28628108}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. {ECO:0000269|PubMed:23374270, ECO:0000269|PubMed:23561803}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia. {ECO:0000269|PubMed:28628108}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR14559 | CASPASE RECRUITMENT DOMAIN FAMILY |
| PANTHER Subfamily | PTHR14559:SF4 | CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11 |
| PANTHER Protein Class | scaffold/adaptor protein | |
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| CBM complex | A protein complex comprising Bcl10, MALT1 and a CARD domain-containing protein (CARD9, CARD10 or CARD11); plays a role in signal transduction during NF-kappaB activation. |
| 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. |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| CARD domain binding | Binding to a CARD (N-terminal caspase recruitment) domain, a protein-protein interaction domain that belongs to the death domain-fold superfamily. These protein molecule families are similar in structure with each consisting of six or seven anti-parallel alpha-helices that form highly specific homophilic interactions between signaling partners. CARD exists in the N-terminal prodomains of several caspases and in apoptosis-regulatory proteins and mediates the assembly of CARD-containing proteins that participate in activation or suppression of CARD carrying members of the caspase family. |
| guanylate kinase activity | Catalysis of the reaction: ATP + GMP = ADP + GDP. |
| protein self-association | Binding to a domain within the same polypeptide. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell differentiation | The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| B cell proliferation | The expansion of a B cell population by cell division. Follows B cell activation. |
| homeostasis of number of cells | Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| positive regulation of B cell proliferation | Any process that activates or increases the rate or extent of B cell proliferation. |
| 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 interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of T cell proliferation | Any process that activates or increases the rate or extent of T cell proliferation. |
| positive regulation of T cell receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of B cell differentiation | Any process that modulates the frequency, rate or extent of B cell differentiation. |
| regulation of T cell differentiation | Any process that modulates the frequency, rate or extent of T cell differentiation. |
| T cell costimulation | The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. |
| thymic T cell selection | The process of T cell selection that occurs in the thymus. |
| TORC1 signaling | A series of intracellular molecular signals mediated by TORC1; TOR (target of rapamycin) in complex with at least Raptor (regulatory-associated protein of TOR), or orthologs of, and other signaling components. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12959 | DLG1 | Disks large homolog 1 | Homo sapiens (Human) | SS |
| Q92796 | DLG3 | Disks large homolog 3 | Homo sapiens (Human) | SS |
| Q15700 | DLG2 | Disks large homolog 2 | Homo sapiens (Human) | SS |
| P78352 | DLG4 | Disks large homolog 4 | Homo sapiens (Human) | SS |
| Q9H257 | CARD9 | Caspase recruitment domain-containing protein 9 | Homo sapiens (Human) | EV |
| Q62108 | Dlg4 | Disks large homolog 4 | Mus musculus (Mouse) | SS |
| Q811D0 | Dlg1 | Disks large homolog 1 | Mus musculus (Mouse) | SS |
| P70175 | Dlg3 | Disks large homolog 3 | Mus musculus (Mouse) | SS |
| Q99KF0 | Card14 | Caspase recruitment domain-containing protein 14 | Mus musculus (Mouse) | PR |
| Q91XM9 | Dlg2 | Disks large homolog 2 | Mus musculus (Mouse) | SS |
| Q8CIS0 | Card11 | Caspase recruitment domain-containing protein 11 | Mus musculus (Mouse) | SS |
| A2AIV8 | Card9 | Caspase recruitment domain-containing protein 9 | Mus musculus (Mouse) | EV |
| Q62936 | Dlg3 | Disks large homolog 3 | Rattus norvegicus (Rat) | SS |
| Q63622 | Dlg2 | Disks large homolog 2 | Rattus norvegicus (Rat) | EV |
| Q62696 | Dlg1 | Disks large homolog 1 | Rattus norvegicus (Rat) | SS |
| P31016 | Dlg4 | Disks large homolog 4 | Rattus norvegicus (Rat) | SS |
| G5ECY0 | dlg-1 | Disks large homolog 1 | Caenorhabditis elegans | SS |
| Q28C55 | dlg1 | Disks large homolog 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q6R005 | dlg4 | Disks large homolog 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5PYH5 | dlg1l | Discs large homolog 1-like protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5PYH7 | dlg2 | Disks large homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGGGPEMDD | YMETLKDEED | ALWENVECNR | HMLSRYINPA | KLTPYLRQCK | VIDEQDEDEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LNAPMLPSKI | NRAGRLLDIL | HTKGQRGYVV | FLESLEFYYP | ELYKLVTGKE | PTRRFSTIVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEGHEGLTHF | LMNEVIKLQQ | QMKAKDLQRC | ELLARLRQLE | DEKKQMTLTR | VELLTFQERY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YKMKEERDSY | NDELVKVKDD | NYNLAMRYAQ | LSEEKNMAVM | RSRDLQLEID | QLKHRLNKME |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EECKLERNQS | LKLKNDIENR | PKKEQVLELE | RENEMLKTKN | QELQSIIQAG | KRSLPDSDKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILDILEHDRK | EALEDRQELV | NRIYNLQEEA | RQAEELRDKY | LEEKEDLELK | CSTLGKDCEM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YKHRMNTVML | QLEEVERERD | QAFHSRDEAQ | TQYSQCLIEK | DKYRKQIREL | EEKNDEMRIE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MVRREACIVN | LESKLRRLSK | DSNNLDQSLP | RNLPVTIISQ | DFGDASPRTN | GQEADDSSTS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EESPEDSKYF | LPYHPPQRRM | NLKGIQLQRA | KSPISLKRTS | DFQAKGHEEE | GTDASPSSCG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SLPITNSFTK | MQPPRSRSSI | MSITAEPPGN | DSIVRRYKED | APHRSTVEED | NDSGGFDALD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LDDDSHERYS | FGPSSIHSSS | SSHQSEGLDA | YDLEQVNLMF | RKFSLERPFR | PSVTSVGHVR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GPGPSVQHTT | LNGDSLTSQL | TLLGGNARGS | FVHSVKPGSL | AEKAGLREGH | QLLLLEGCIR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GERQSVPLDT | CTKEEAHWTI | QRCSGPVTLH | YKVNHEGYRK | LVKDMEDGLI | TSGDSFYIRL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NLNISSQLDA | CTMSLKCDDV | VHVRDTMYQD | RHEWLCARVD | PFTDHDLDMG | TIPSYSRAQQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LLLVKLQRLM | HRGSREEVDG | THHTLRALRN | TLQPEEALST | SDPRVSPRLS | RASFLFGQLL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QFVSRSENKY | KRMNSNERVR | IISGSPLGSL | ARSSLDATKL | LTEKQEELDP | ESELGKNLSL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IPYSLVRAFY | CERRRPVLFT | PTVLAKTLVQ | RLLNSGGAME | FTICKSDIVT | RDEFLRRQKT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ETIIYSREKN | PNAFECIAPA | NIEAVAAKNK | HCLLEAGIGC | TRDLIKSNIY | PIVLFIRVCE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KNIKRFRKLL | PRPETEEEFL | RVCRLKEKEL | EALPCLYATV | EPDMWGSVEE | LLRVVKDKIG |
| 1150 | |||||
| EEQRKTIWVD | EDQL |