P51451
SS
Gene name |
BLK |
Protein name |
Tyrosine-protein kinase Blk |
Names |
EC 2.7.10.2 , B lymphocyte kinase , p55-Blk |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:640 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
The Src-family kinases include Src, Hck, Fyn, Lyn, Lck, Yes, Fgr, Blk and Frk. They are involved in diverse cellular functions such as immune responses and cell survival and proliferation. The SH2 domain binds to the C-terminal regulatory tail, facilitating the SH3-SH2-kinase linker interaction. SH3 domain engages the SH2-kinase linker, which adopts a polyproline type II (PPII) helical conformation. These interactions result in the inhibition of the kinase activity of HCK.
Autoinhibitory domains (AIDs)
Target domain |
241-494 (Protein kinase domain) |
Relief mechanism |
Partner binding, Ligand binding |
Assay |
|
Target domain |
241-494 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Target domain |
241-494 (Protein kinase domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
241-494 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
References
- Register AC et al. (2014) "SH2-catalytic domain linker heterogeneity influences allosteric coupling across the SFK family", Biochemistry, 53, 6910-23
- Boggon TJ et al. (2004) "Structure and regulation of Src family kinases", Oncogene, 23, 7918-27
- Engen JR et al. (2008) "Structure and dynamic regulation of Src-family kinases", Cellular and molecular life sciences : CMLS, 65, 3058-73
- Alvarado JJ et al. (2010) "Crystal structure of the Src family kinase Hck SH3-SH2 linker regulatory region supports an SH3-dominant activation mechanism", The Journal of biological chemistry, 285, 35455-61
- Schindler T et al. (1999) "Crystal structure of Hck in complex with a Src family-selective tyrosine kinase inhibitor", Molecular cell, 3, 639-48
- Laham LE et al. (2000) "The activation loop in Lck regulates oncogenic potential by inhibiting basal kinase activity and restricting substrate specificity", Oncogene, 19, 3961-70
- Furlan G et al. (2014) "Phosphatase CD45 both positively and negatively regulates T cell receptor phosphorylation in reconstituted membrane protein clusters", The Journal of biological chemistry, 289, 28514-25
- Kükenshöner T et al. (2017) "Selective Targeting of SH2 Domain-Phosphotyrosine Interactions of Src Family Tyrosine Kinases with Monobodies", Journal of molecular biology, 429, 1364-1380
- Wang Q et al. (2010) "Multicolor monitoring of dysregulated protein kinases in chronic myelogenous leukemia", ACS chemical biology, 5, 887-95
- Sotirellis N et al. (1995) "Autophosphorylation induces autoactivation and a decrease in the Src homology 2 domain accessibility of the Lyn protein kinase", The Journal of biological chemistry, 270, 29773-80
- Williams NK et al. (2009) "Crystal structures of the Lyn protein tyrosine kinase domain in its Apo- and inhibitor-bound state", The Journal of biological chemistry, 284, 284-291
Autoinhibited structure
Activated structure
1 structures for P51451
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P51451-F1 | Predicted | AlphaFoldDB |
631 variants for P51451
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4629637 RCV000387495 rs769734763 COSM748585 |
14 | P>L | lung Maturity onset diabetes mellitus in young [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA4629647 RCV000664118 rs574731221 |
23 | W>R | Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1246131 RCV000329303 rs142352008 RCV000758180 CA4629668 RCV000242255 |
39 | P>L | Systemic lupus erythematosus oesophagus central_nervous_system Maturity-onset diabetes of the young type 11 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000445472 CA4629713 rs375173243 |
52 | P>T | Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs202053568 RCV000758187 RCV001161222 CA4629718 |
55 | H>R | Systemic lupus erythematosus Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000445552 CA4629748 RCV000289595 rs146083915 |
59 | D>E | Monogenic diabetes Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000343718 rs138972988 RCV001584087 CA4629750 |
63 | V>M | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000445395 RCV000116496 CA122129 rs55758736 RCV000013112 COSM20486 VAR_041673 |
71 | A>T | Maturity-onset diabetes of the young, type 11 (mody11) associated with MODY11; reduces the enhancing effect of BLK on insulin secretion; reduces the inducing effect of BLK on the expression of PDX1 and NKX6-1; found as somatic mutation in a colorectal adenocarcinoma sample large_intestine Monogenic diabetes Maturity-onset diabetes of the young type 11 [Ensembl, UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4629760 RCV001538615 rs149393791 COSM1686044 RCV000285152 |
75 | R>G | skin Maturity-onset diabetes of the young type 11 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778435147 CA4629772 RCV000758188 |
84 | K>N | Systemic lupus erythematosus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371256341 COSM180845 RCV000758189 CA4629819 |
101 | V>I | Systemic lupus erythematosus pancreas large_intestine central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142298864 CA10624609 RCV000397955 |
104 | R>I | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000445468 rs115068920 RCV000500681 CA4629831 |
112 | F>S | Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000758190 CA4629836 rs367628135 |
115 | R>Q | Systemic lupus erythematosus [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000758182 CA4629869 rs144615291 |
131 | R>Q | Systemic lupus erythematosus [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000399179 rs562247916 CA4629874 |
142 | I>V | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs769895420 RCV000398982 CA4629961 |
191 | P>T | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4629980 rs550720173 RCV000312480 RCV001764332 |
206 | S>C | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA4630029 rs202028021 RCV001159938 |
223 | P>L | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs551088779 CA172083284 RCV001159939 |
226 | Q>P | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000758183 rs141865425 RCV001569478 RCV000193830 RCV000363851 CA207574 |
238 | R>Q | Systemic lupus erythematosus Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs575123730 RCV000664119 CA4630049 |
238 | R>W | Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs748444664 RCV001161336 |
275 | T>I | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2306234 RCV002222122 CA370314929 |
281 | F>L | Systemic lupus erythematosus [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745877998 CA4630142 RCV000283235 |
298 | R>* | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000758184 rs1307379746 CA370315074 |
307 | P>A | Systemic lupus erythematosus [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs77401687 RCV000504164 CA4630198 RCV000319404 |
325 | K>T | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001162884 rs138333004 CA4630199 |
327 | D>V | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4630212 rs567720261 RCV000664120 RCV001162885 |
341 | S>A | Monogenic diabetes Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4630350 rs759976637 RCV000374019 |
349 | A>V | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758750492 RCV000758185 CA4630353 |
350 | Y>H | Systemic lupus erythematosus [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4630356 RCV000279603 RCV001821100 rs199696853 RCV001591031 |
353 | R>C | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10630079 rs886062595 RCV000397139 |
374 | C>G | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs142803179 CA4630381 RCV001162887 |
381 | L>S | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4630420 rs139210041 RCV000294577 |
403 | A>V | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
CA4630430 RCV001164965 rs373565757 |
418 | V>M | Maturity-onset diabetes of the young, type 11 (mody11) Maturity-onset diabetes of the young type 11 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001547490 RCV000397116 rs202162624 CA4630493 |
450 | R>H | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4630496 rs199605698 RCV000309961 |
451 | G>S | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1171913284 RCV001164968 |
471 | E>Q | Maturity-onset diabetes of the young type 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA370310498 rs1483005905 |
2 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370310496 rs1483005905 |
2 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4629622 rs142772999 |
2 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4629624 rs751122425 |
3 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151045602 CA4629627 |
4 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151045602 CA4629625 |
4 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151045602 CA4629626 |
4 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4629628 rs371790094 |
5 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223201532 CA370310535 |
6 | S>N | No |
ClinGen TOPMed |
|
|
rs1299706887 CA370310545 |
7 | K>Q | No |
ClinGen TOPMed |
|
|
rs1449962398 CA370310562 |
8 | K>N | No |
ClinGen TOPMed |
|
|
CA4629631 rs147022480 |
9 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748344961 CA4629630 |
9 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172068099 rs77282256 |
10 | D>E | No |
ClinGen gnomAD |
|
|
CA370310581 rs77282256 |
10 | D>E | No |
ClinGen gnomAD |
|
|
CA172068103 rs908391976 |
11 | K>E | No |
ClinGen TOPMed |
|
|
rs747174966 CA4629633 |
11 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA4629634 rs147642493 |
11 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372256129 CA370310594 |
12 | E>G | No |
ClinGen gnomAD |
|
|
rs1372256129 CA370310596 |
12 | E>V | No |
ClinGen gnomAD |
|
|
CA370310619 rs142129056 |
13 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4629635 rs776718947 |
13 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4629640 rs763857385 |
18 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762626766 CA4629639 |
18 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4629641 rs751166006 |
19 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA172068143 rs975732448 |
19 | D>N | No |
ClinGen TOPMed |
|
|
rs1243978800 CA370310686 |
20 | K>E | No |
ClinGen TOPMed |
|
|
rs761315859 CA4629642 |
21 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263734574 CA370310702 |
21 | G>C | No |
ClinGen Ensembl |
|
|
rs375278490 CA4629644 |
22 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4629643 rs375278490 |
22 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4629645 rs145993253 |
22 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4629648 rs758680472 |
23 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1385853511 CA370310740 |
24 | S>N | No |
ClinGen gnomAD |
|
|
CA4629650 rs138428717 |
24 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199658024 CA370310758 |
26 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1315305776 CA370310770 |
27 | K>R | No |
ClinGen TOPMed |
|
|
rs1273396525 CA370310780 |
28 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745832308 CA4629653 |
29 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs775270203 CA4629656 |
30 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4629655 rs775270203 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768267263 CA4629657 |
31 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4629659 rs761405498 |
32 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172068223 rs143438845 |
33 | K>N | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs1219136059 CA370310844 |
34 | D>A | No |
ClinGen gnomAD |
|
|
CA4629660 rs767040828 |
34 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4629662 rs765828168 |
35 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76085840 CA172068260 |
35 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76085840 CA4629661 |
35 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172068236 rs76085840 |
35 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765828168 CA4629663 |
35 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013048438 CA172068330 |
36 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758798553 CA4629664 |
36 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs751857286 CA4629666 |
37 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751857286 CA370310864 |
37 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535683889 CA370310876 |
39 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370310877 rs142352008 |
39 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4629667 rs535683889 |
39 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA172068373 rs868844466 |
40 | P>L | No |
ClinGen Ensembl |
|
|
CA4629671 rs200018129 |
40 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4629672 rs371967598 |
41 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437243282 CA370311314 |
42 | V>A | No |
ClinGen gnomAD |
|
|
CA4629709 rs202045056 |
47 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000116494 rs202045056 CA230926 |
47 | L>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs35339715 VAR_041672 CA172070888 |
48 | T>I | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA370311354 rs35339715 |
48 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs146140570 CA4629710 |
49 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140188373 CA4629711 |
51 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4629714 rs375173243 |
52 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775010605 CA4629717 |
53 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4629716 rs377676972 |
53 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772595681 CA4629719 |
57 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA370311404 rs772595681 |
57 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4629720 rs773488674 |
59 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA172070915 rs773488674 |
59 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370311439 rs1460657853 |
60 | K>N | No |
ClinGen TOPMed |
|
|
rs56065800 CA370311456 |
62 | F>L | No |
ClinGen TOPMed |
|
|
rs138972988 CA370311457 |
63 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138972988 CA370311458 |
63 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370311462 rs1180141596 |
64 | V>M | No |
ClinGen gnomAD |
|
|
rs200744308 CA4629751 |
65 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4629752 rs755867255 |
65 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370311475 rs1366640673 |
66 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370311477 rs1168233722 |
67 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4629754 rs748864580 |
68 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA370311512 rs1228494599 |
72 | M>V | No |
ClinGen gnomAD |
|
|
CA4629757 rs771224606 |
73 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919928429 CA172072882 |
73 | N>S | No |
ClinGen TOPMed |
|
|
CA4629758 rs538912310 |
74 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374914510 CA4629762 |
75 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149393791 CA4629761 |
75 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761768063 CA4629765 |
76 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs774171207 CA4629764 |
76 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM360406 CA4629766 rs767324062 |
77 | L>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370311543 rs1254010842 |
77 | L>P | No |
ClinGen gnomAD |
|
|
rs1423135226 CA370311547 |
78 | Q>* | No |
ClinGen gnomAD |
|
|
rs1423135226 CA370311546 |
78 | Q>E | No |
ClinGen gnomAD |
|
|
rs1423135226 CA370311545 |
78 | Q>K | No |
ClinGen gnomAD |
|
|
CA4629767 rs750289049 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs760528244 CA4629768 |
79 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1563113321 CA370311573 |
80 | L>P | No |
ClinGen Ensembl |
|
|
rs1427568580 CA370311577 |
81 | K>Q | No |
ClinGen gnomAD |
|
|
CA4629769 rs369654647 |
82 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4629770 rs369654647 |
82 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754458822 CA4629771 |
83 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4629774 rs757822963 |
86 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1040912036 CA172072955 |
88 | L>P | No |
ClinGen Ensembl |
|
|
CA172072957 rs891611801 |
89 | K>* | No |
ClinGen Ensembl |
|
|
CA370311663 rs1010571742 |
89 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA370311770 rs1290251787 |
91 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370311768 rs1290251787 |
91 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370311773 rs1381527067 |
92 | G>R | No |
ClinGen TOPMed |
|
|
CA370311814 rs1327119981 |
94 | W>L | No |
ClinGen gnomAD |
|
|
rs750953667 CA4629815 |
95 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1180849034 CA370311827 |
95 | W>* | No |
ClinGen TOPMed |
|
|
CA370311839 rs1323352728 |
96 | L>P | No |
ClinGen gnomAD |
|
|
rs756650691 CA4629816 |
96 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370311846 rs1219026004 |
97 | A>S | No |
ClinGen gnomAD |
|
|
CA4629817 COSM1095177 rs147632595 |
97 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1443200724 CA370311857 |
98 | R>T | No |
ClinGen TOPMed |
|
|
CA370311872 rs1483150439 |
100 | L>F | No |
ClinGen gnomAD |
|
|
CA4629820 rs779200388 |
101 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA370311890 rs1158566798 |
102 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748260678 CA4629821 |
102 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748260678 CA4629822 |
102 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs747055698 CA4629824 |
103 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204675407 CA370311907 |
104 | R>G | No |
ClinGen TOPMed |
|
|
rs142298864 CA4629825 |
104 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142298864 CA370311913 |
104 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936236012 CA172073802 |
105 | E>K | No |
ClinGen TOPMed |
|
|
CA370311922 rs936236012 |
105 | E>Q | No |
ClinGen TOPMed |
|
|
CA370311932 rs1430694095 |
106 | G>D | No |
ClinGen gnomAD |
|
|
CA172073803 rs549713686 |
106 | G>S | No |
ClinGen 1000Genomes |
|
|
rs1430694095 CA370311936 |
106 | G>V | No |
ClinGen gnomAD |
|
|
rs776698336 CA4629826 |
107 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1348767341 CA370311949 |
108 | V>M | No |
ClinGen gnomAD |
|
|
rs1381179922 CA370311966 |
109 | P>L | No |
ClinGen gnomAD |
|
|
rs1284712767 CA370311960 |
109 | P>T | No |
ClinGen gnomAD |
|
|
rs775226143 CA4629829 |
110 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775226143 CA4629830 |
110 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4629834 rs766934515 |
113 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766934515 CA16621925 |
113 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187571903 CA370312025 |
114 | A>D | No |
ClinGen gnomAD |
|
|
CA4629835 rs754227902 |
115 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA370312029 rs367628135 |
115 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180595828 CA370312037 |
116 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370312034 rs1384993469 |
116 | V>L | No |
ClinGen TOPMed |
|
|
CA370312031 rs1384993469 |
116 | V>M | No |
ClinGen TOPMed |
|
|
CA4629838 rs752992802 |
119 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752992802 CA370312069 |
119 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370312081 rs1409464305 |
120 | E>D | No |
ClinGen gnomAD |
|
|
rs1368871955 CA370312072 |
120 | E>Q | No |
ClinGen gnomAD |
|
|
CA370312093 rs1334858946 |
121 | M>I | No |
ClinGen gnomAD |
|
|
rs1585398423 CA370312091 |
121 | M>R | No |
ClinGen Ensembl |
|
|
rs758732733 CA4629839 |
123 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs546054120 CA4629866 |
124 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA172074693 rs866807537 |
128 | S>L | No |
ClinGen Ensembl |
|
|
rs954818860 CA172074698 |
130 | G>C | No |
ClinGen Ensembl |
|
|
CA172074708 rs73663163 COSM1673762 |
131 | R>G | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144615291 CA4629870 |
131 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs73663163 CA4629867 |
131 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370312326 rs1585400228 |
132 | K>M | No |
ClinGen Ensembl |
|
|
CA172074736 rs956730553 |
133 | E>D | No |
ClinGen gnomAD |
|
|
COSM1699724 rs776062791 CA4629872 |
133 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1210749724 CA370312335 |
134 | A>T | No |
ClinGen gnomAD |
|
|
CA370312343 rs1489908800 |
135 | E>* | No |
ClinGen gnomAD |
|
|
rs756761426 CA172074744 |
139 | L>P | No |
ClinGen Ensembl |
|
|
rs756761426 CA370312374 |
139 | L>R | No |
ClinGen Ensembl |
|
|
CA370312380 rs1585400299 |
140 | A>V | No |
ClinGen Ensembl |
|
|
CA370312390 rs1473604016 |
142 | I>T | No |
ClinGen gnomAD |
|
|
rs1056884367 CA172074759 |
143 | N>D | No |
ClinGen TOPMed |
|
|
rs1180015511 CA370312398 |
143 | N>K | No |
ClinGen gnomAD |
|
|
CA4629875 rs764499421 |
144 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751857293 CA4629877 |
145 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4629876 rs751857293 |
145 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750524454 CA4629880 |
146 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4629879 rs202149014 |
146 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370312425 rs1487067030 |
148 | F>S | No |
ClinGen TOPMed |
|
|
rs200916733 CA4629882 |
150 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370312438 rs200916733 |
150 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1264102289 CA370312437 |
150 | I>V | No |
ClinGen TOPMed |
|
|
CA4629885 rs185831709 |
152 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370312458 rs1305509786 |
153 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs547792358 CA4629886 |
155 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779573209 CA370313198 |
161 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4629933 rs779573209 |
161 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs779573209 CA4629932 |
161 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1352811596 CA370313220 |
165 | K>R | No |
ClinGen gnomAD |
|
|
rs1209111458 CA370313229 |
166 | D>V | No |
ClinGen TOPMed |
|
|
rs1284699066 CA370313236 |
167 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772351075 CA4629934 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778238747 CA4629935 |
168 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1267186900 CA370313246 |
169 | T>N | No |
ClinGen TOPMed |
|
|
rs747312270 CA4629936 |
170 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370313258 rs1215929281 |
171 | G>A | No |
ClinGen gnomAD |
|
|
rs530732957 CA4629937 |
171 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4629938 rs200436247 |
172 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370313263 rs1204516450 |
172 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM98866 rs200436247 CA370313260 |
172 | E>K | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1204516450 CA370313264 |
172 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370313270 rs1182075203 |
173 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs372898454 CA4629940 |
173 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370313277 rs1450371901 |
174 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370313275 rs1166731997 |
174 | I>T | No |
ClinGen TOPMed |
|
|
rs1169852641 CA370313280 |
175 | K>Q | No |
ClinGen gnomAD |
|
|
CA4629941 rs775313404 COSM1686046 |
177 | Y>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370313307 rs1409449691 |
178 | K>N | No |
ClinGen gnomAD |
|
|
CA4629942 rs762908834 |
179 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs377227999 CA4629943 |
179 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4629944 rs751424817 |
180 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs144781247 CA4629945 |
180 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370313317 rs144781247 |
180 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373008394 CA4629947 |
183 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755705290 CA370313352 |
185 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755705290 CA4629948 |
185 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753255781 CA370313363 |
186 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563119336 CA370313358 |
186 | G>R | No |
ClinGen Ensembl |
|
|
CA4629951 rs753255781 |
186 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4629953 rs778129715 |
187 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA4629952 rs758992213 |
187 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs747472942 CA4629955 |
188 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA370313378 rs1202301255 |
188 | Y>H | No |
ClinGen gnomAD |
|
|
CA172082481 rs974096774 |
189 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA172082463 rs962231904 |
189 | I>V | No |
ClinGen Ensembl |
|
|
CA172082494 rs200875749 |
190 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200875749 CA4629960 |
190 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200875749 CA4629959 |
190 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779113789 CA4629962 |
191 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141947199 CA4629964 |
192 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761710037 COSM1551594 CA4629966 |
192 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs141947199 CA4629965 |
192 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4629968 rs750129465 |
195 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs760440266 CA370313444 |
195 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370313454 rs1284697634 |
196 | P>L | No |
ClinGen gnomAD |
|
|
rs765924109 CA4629970 |
196 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs150630845 CA370313463 |
197 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150630845 CA4629972 |
197 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1036183116 CA172082549 |
198 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1036183116 CA370313467 |
198 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781498417 CA4629976 |
200 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs746202021 CA4629977 |
202 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1457279876 CA370313503 |
202 | V>L | No |
ClinGen TOPMed |
|
|
rs780129239 CA4629979 |
203 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370313528 rs1200272877 |
205 | Y>D | No |
ClinGen TOPMed |
|
|
rs750867843 CA4630013 |
207 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA370313611 rs761120131 |
208 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630014 rs761120131 |
208 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370313643 rs754196779 |
211 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630016 rs754196779 |
211 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752889602 CA4630019 |
215 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172083183 rs1036711228 |
217 | T>S | No |
ClinGen TOPMed |
|
|
rs777866039 CA4630021 |
219 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630022 rs746873052 |
220 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs775132094 CA4630023 |
222 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs898140517 CA4630025 |
222 | R>H | No |
ClinGen TOPMed |
|
|
rs898140517 CA4630026 |
222 | R>L | No |
ClinGen TOPMed |
|
|
rs775132094 CA4630024 |
222 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202028021 CA370313742 |
223 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs551647338 CA4630028 |
223 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551647338 CA370313736 |
223 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1205451707 CA370313751 |
224 | A>D | No |
ClinGen gnomAD |
|
|
CA370313745 rs1324136332 |
224 | A>T | No |
ClinGen gnomAD |
|
|
CA370313752 rs1205451707 |
224 | A>V | No |
ClinGen gnomAD |
|
|
rs144592409 CA4630032 RCV000597850 |
225 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144592409 CA4630033 |
225 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4630035 rs200893448 |
226 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966280631 CA172083279 |
226 | Q>K | No |
ClinGen Ensembl |
|
|
rs373560683 CA4630036 |
227 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4630039 rs568112977 |
228 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4630038 rs568112977 |
228 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4630037 rs568112977 |
228 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs979577130 CA172083309 |
229 | W>* | No |
ClinGen Ensembl |
|
|
CA4630040 rs968453155 |
229 | W>R | No |
ClinGen Ensembl |
|
|
rs1429335117 CA370313802 |
230 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1429335117 CA370313796 |
230 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1473442531 CA370313804 |
230 | A>V | No |
ClinGen gnomAD |
|
|
COSM180846 CA370313817 rs111642844 |
231 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1412884847 CA370313813 |
231 | Q>R | No |
ClinGen gnomAD |
|
|
CA4630043 rs777960256 |
232 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs751627957 CA4630044 |
233 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370313841 rs1289685967 |
234 | W>R | No |
ClinGen gnomAD |
|
|
rs1364292650 CA370313868 |
236 | I>V | No |
ClinGen gnomAD |
|
|
rs781177993 CA4630047 |
237 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748894201 CA4630050 COSM4138610 |
239 | Q>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4630051 COSM4138610 rs748894201 |
239 | Q>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773896490 CA4630052 |
240 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1374239944 CA370313910 |
241 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs945378807 CA172083381 |
242 | R>G | No |
ClinGen TOPMed |
|
|
CA172083388 rs1041038076 |
244 | V>I | No |
ClinGen TOPMed |
|
|
rs759831348 CA4630056 |
247 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA370313978 rs1160239209 |
248 | G>E | No |
ClinGen gnomAD |
|
|
CA370313975 rs763307492 |
248 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763307492 CA4630059 |
248 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265101947 CA370314004 |
251 | Q>L | No |
ClinGen TOPMed |
|
|
rs565575821 CA4630064 |
253 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565575821 CA4630063 |
253 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779861022 CA4630066 |
254 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs200515443 CA4630065 |
254 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200515443 CA370314029 |
254 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749057360 CA4630067 |
255 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224238023 CA370314038 |
255 | V>L | No |
ClinGen gnomAD |
|
|
rs766306312 CA4630106 |
258 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753715013 CA4630107 |
259 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA370314679 rs1356664026 |
261 | K>E | No |
ClinGen TOPMed |
|
|
CA4630109 rs372387507 |
263 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370314704 rs1177054753 |
264 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4630111 rs377244303 |
264 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758119170 CA370314728 |
265 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964223980 CA172085065 |
265 | K>Q | No |
ClinGen TOPMed |
|
|
CA4630114 rs751182980 |
266 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777278971 CA172085071 |
266 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777278971 CA4630113 |
266 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630115 rs756763291 |
269 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA370314795 rs1393202889 |
269 | K>N | No |
ClinGen TOPMed |
|
|
rs1339255866 CA370314791 |
269 | K>T | No |
ClinGen gnomAD |
|
|
rs368427116 COSM1169134 CA4630116 |
270 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA370314810 rs1372364673 |
271 | L>M | No |
ClinGen TOPMed |
|
|
rs1326116637 CA370314815 |
271 | L>P | No |
ClinGen gnomAD |
|
|
CA4630118 rs768937409 |
273 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs538418869 CA4630119 |
274 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA172085103 rs929828497 |
274 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4630120 rs748444664 |
275 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748444664 CA370314860 |
275 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585414414 CA370314875 |
276 | M>I | No |
ClinGen Ensembl |
|
|
CA4630121 rs772402353 |
278 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4630123 rs760755773 |
280 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2306234 CA370314928 |
281 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776580851 CA4630124 |
282 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760237819 CA172085142 |
283 | G>D | No |
ClinGen Ensembl |
|
|
CA370314934 rs1171820579 |
283 | G>S | No |
ClinGen gnomAD |
|
|
CA4630125 rs759557311 |
284 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA370314946 rs1269105459 |
285 | A>T | No |
ClinGen TOPMed |
|
|
CA4630127 rs1042687 |
287 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763814082 CA4630129 |
288 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630130 rs763814082 |
288 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630128 rs762653126 |
288 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868722503 CA172085172 |
290 | A>T | No |
ClinGen Ensembl |
|
|
CA4630132 rs780812719 |
292 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4630134 rs142623841 |
293 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA172085202 rs1055710540 |
293 | H>Y | No |
ClinGen TOPMed |
|
|
CA4630135 rs201698258 |
294 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201698258 CA172085208 |
294 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370315005 rs1333039646 |
294 | E>V | No |
ClinGen TOPMed |
|
|
CA4630138 rs778020923 |
295 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630137 rs150949722 |
295 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4630141 rs776714064 |
297 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs769774070 CA4630143 |
298 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478236542 CA370315025 |
299 | L>V | No |
ClinGen TOPMed |
|
|
CA370315034 rs1379252029 |
300 | Y>C | No |
ClinGen gnomAD |
|
|
rs774184337 CA4630147 |
301 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630148 rs774184337 |
301 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045455569 CA172085302 |
302 | V>E | No |
ClinGen Ensembl |
|
|
CA370315043 rs771604015 |
302 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA172085279 rs771604015 |
302 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370315057 rs1336733783 |
304 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370315069 rs1444745527 |
306 | E>G | No |
ClinGen gnomAD |
|
|
CA172085310 rs906846809 |
306 | E>Q | No |
ClinGen TOPMed |
|
|
rs1307379746 CA370315075 |
307 | P>S | No |
ClinGen gnomAD |
|
|
rs138547659 CA4630151 |
308 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1277951596 CA370315095 |
310 | I>L | No |
ClinGen TOPMed |
|
|
CA4630153 rs753125007 |
312 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA370315109 rs1209170486 |
312 | T>I | No |
ClinGen gnomAD |
|
|
CA370315116 rs1176500169 |
313 | E>D | No |
ClinGen gnomAD |
|
|
rs368928198 CA4630156 |
313 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140714954 CA172085328 |
315 | M>T | No |
ClinGen ESP |
|
|
rs757483594 CA4630157 |
315 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781324612 CA4630159 |
316 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781324612 CA370315136 |
316 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781324612 CA4630158 |
316 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172085330 rs1047925960 |
317 | R>K | No |
ClinGen TOPMed |
|
|
CA370315139 rs1047925960 |
317 | R>T | No |
ClinGen TOPMed |
|
|
CA370315143 rs1165072803 |
318 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370315167 rs767739379 |
319 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370315164 rs1563123027 |
319 | C>Y | No |
ClinGen Ensembl |
|
|
CA172086583 rs111982490 |
320 | L>P | No |
ClinGen gnomAD |
|
|
CA370315171 rs111982490 |
320 | L>R | No |
ClinGen gnomAD |
|
|
rs745497500 CA172086589 |
322 | D>H | No |
ClinGen Ensembl |
|
|
CA370315209 rs1178740619 |
326 | T>R | No |
ClinGen gnomAD |
|
|
rs755099916 CA4630200 |
327 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4630201 rs372577820 |
328 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1264627307 CA370315217 |
328 | E>K | No |
ClinGen TOPMed |
|
|
rs748069424 CA4630202 |
329 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4630203 rs772096603 |
330 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4630204 rs377070824 |
330 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4630205 rs779614551 |
331 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172086617 rs779614551 |
331 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770494975 CA4630206 |
334 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769269890 CA4630209 COSM77339 |
335 | P>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs865774891 CA172086652 |
336 | R>K | No |
ClinGen Ensembl |
|
|
CA370315268 rs1487034678 |
336 | R>S | No |
ClinGen gnomAD |
|
|
CA4630210 rs774876545 |
338 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213341068 CA370315284 |
339 | D>G | No |
ClinGen gnomAD |
|
|
CA370315293 rs1366056385 |
340 | M>I | No |
ClinGen TOPMed |
|
|
CA4630211 rs762336485 |
340 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370185692 COSM1184746 CA4630213 |
341 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs754095293 CA370315302 |
342 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630215 rs766572941 |
342 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4630216 rs754095293 |
342 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370315913 rs1300783845 |
345 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1414630680 CA370315916 |
345 | A>V | No |
ClinGen TOPMed |
|
|
rs1369668194 CA370315917 |
346 | E>K | No |
ClinGen gnomAD |
|
|
CA4630349 rs749903162 |
347 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370315927 rs1585423152 |
347 | G>R | No |
ClinGen Ensembl |
|
|
CA172090774 rs749903162 |
347 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759976637 CA4630351 |
349 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1310753280 CA370315938 |
349 | A>S | No |
ClinGen gnomAD |
|
|
CA4630355 rs751751964 |
351 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1095194 CA4630358 rs149605952 |
353 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs149605952 CA370315964 |
353 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4630357 rs199696853 |
353 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA172090835 rs144349989 |
354 | M>K | No |
ClinGen ESP TOPMed |
|
|
CA370315970 rs144349989 |
354 | M>R | No |
ClinGen ESP TOPMed |
|
|
rs1410175200 CA370315967 |
354 | M>V | No |
ClinGen gnomAD |
|
|
rs769622708 CA4630359 |
355 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA4630361 rs749149481 |
356 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1323603485 CA370315991 |
357 | I>T | No |
ClinGen gnomAD |
|
|
rs774184424 CA4630363 |
358 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146505280 CA4630364 |
359 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771699695 CA4630365 |
359 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542354024 CA4630368 |
360 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs542354024 CA4630367 |
360 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370316006 rs1222621178 |
360 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763350654 CA370316013 |
361 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630370 rs763350654 |
361 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271605637 CA370316015 |
362 | R>Q | No |
ClinGen gnomAD |
|
|
rs980105504 CA172090928 |
362 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA370316023 rs1334454883 |
363 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370316028 rs1460177220 |
364 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370316034 rs1234737422 |
365 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1167173834 CA370316042 |
366 | I>T | No |
ClinGen TOPMed |
|
|
rs1418870298 CA370316045 |
367 | L>V | No |
ClinGen TOPMed |
|
|
CA370316056 rs1256820630 |
369 | S>T | No |
ClinGen gnomAD |
|
|
rs757431553 CA4630373 |
370 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781408045 CA4630374 |
371 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554284389 CA172090952 |
372 | L>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554284389 CA4630375 |
372 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4630376 rs756202005 |
373 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4630378 rs749204324 |
374 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4630380 rs778868587 |
376 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs139923395 CA172090973 |
378 | D>N | No |
ClinGen ESP |
|
|
CA172090974 rs542670447 |
382 | A>S | No |
ClinGen gnomAD |
|
|
CA370316144 rs771692863 |
383 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630382 rs771692863 |
383 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773865077 CA370316145 |
383 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630383 rs773865077 |
383 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630384 rs746550281 |
384 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs940498822 CA172090997 |
386 | D>H | No |
ClinGen gnomAD |
|
|
CA4630386 rs940498822 |
386 | D>N | No |
ClinGen gnomAD |
|
|
rs1366757365 CA370316170 |
387 | S>T | No |
ClinGen TOPMed |
|
|
CA370316175 rs776080933 |
388 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4630388 rs776080933 |
388 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA370316190 rs1486615957 |
390 | T>A | No |
ClinGen gnomAD |
|
|
rs763474991 CA4630389 |
390 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763474991 CA172091030 COSM453888 |
390 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4630391 rs575586576 |
391 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4630394 rs750632024 |
393 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs756299584 CA4630395 |
394 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA370316229 rs1281969656 |
394 | G>V | No |
ClinGen gnomAD |
|
|
CA370316231 rs932955102 |
395 | A>S | No |
ClinGen TOPMed |
|
|
CA172094228 rs932955102 |
395 | A>T | No |
ClinGen TOPMed |
|
|
rs774535573 CA172094238 |
400 | K>T | No |
ClinGen Ensembl |
|
|
CA370316277 rs1254453742 |
401 | W>* | No |
ClinGen gnomAD |
|
|
rs1429484084 CA370316274 |
401 | W>* | No |
ClinGen TOPMed |
|
|
rs1471316560 CA370316292 |
404 | P>A | No |
ClinGen TOPMed |
|
|
rs558022818 CA4630422 |
404 | P>L | No |
ClinGen ExAC |
|
|
rs1050194192 CA172094261 |
408 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370316331 rs200819560 |
409 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149924770 CA4630426 |
410 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370316332 rs376140772 |
410 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376140772 CA4630425 |
410 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1585425880 CA370316339 |
411 | V>G | No |
ClinGen Ensembl |
|
|
rs1326951952 CA370316371 |
416 | A>T | No |
ClinGen gnomAD |
|
|
rs546426170 CA4630428 |
416 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4630431 rs577905338 |
418 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172094292 rs577905338 |
418 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370316391 rs1444359819 |
419 | W>S | No |
ClinGen gnomAD |
|
|
rs1265223782 CA370316401 |
420 | S>L | No |
ClinGen TOPMed |
|
|
rs776975123 CA370316411 |
422 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370316412 rs1307850546 |
422 | G>E | No |
ClinGen TOPMed |
|
|
CA4630433 rs776975123 |
422 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370316418 rs1233705048 |
423 | V>D | No |
ClinGen gnomAD |
|
|
CA370316423 rs1274756096 |
424 | L>F | No |
ClinGen gnomAD |
|
|
rs568054323 CA4630434 |
425 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439021073 CA370316437 |
426 | M>I | No |
ClinGen gnomAD |
|
|
rs1419208772 CA370316433 |
426 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4630436 rs752671467 |
426 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs897649644 CA172094341 |
428 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1427158854 CA370316449 |
428 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs897649644 CA370316451 |
428 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs187992701 CA172094356 |
432 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4630441 rs780871482 |
433 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780871482 CA370316478 COSM1686047 |
433 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1454348 rs751422253 CA4630440 |
433 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs376956553 CA370316481 |
434 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376956553 CA4630442 |
434 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585426064 CA370316487 |
435 | P>T | No |
ClinGen Ensembl |
|
|
CA370316495 rs1393176878 |
436 | Y>C | No |
ClinGen gnomAD |
|
|
rs970724923 CA172094372 |
437 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs970724923 CA370316502 |
437 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4630445 rs748686075 |
438 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA370316535 rs1393278000 |
439 | M>I | No |
ClinGen gnomAD |
|
|
CA370316549 rs1159725540 |
441 | N>H | No |
ClinGen gnomAD |
|
|
CA172095260 rs1042269739 |
441 | N>I | No |
ClinGen TOPMed |
|
|
CA370316555 rs1365371460 |
441 | N>K | No |
ClinGen gnomAD |
|
|
rs1158087503 CA370316562 |
442 | P>H | No |
ClinGen gnomAD |
|
|
rs923963209 CA172095261 |
442 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370316577 rs1323310464 |
443 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA370316567 rs1442575406 |
443 | E>K | No |
ClinGen gnomAD |
|
|
CA4630488 rs780363771 |
444 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172095269 rs1003637378 |
445 | I>S | No |
ClinGen gnomAD |
|
|
CA370316596 rs1003637378 |
445 | I>T | No |
ClinGen gnomAD |
|
|
CA172095273 rs749502883 |
446 | R>C | No |
ClinGen ExAC |
|
|
rs749502883 CA4630489 |
446 | R>S | No |
ClinGen ExAC |
|
|
rs889838825 CA172095274 |
448 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4630491 rs774425045 |
449 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA370316635 rs748156361 |
450 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630492 rs748156361 |
450 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202162624 CA4630494 |
450 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370316660 rs1181201250 |
453 | R>H | No |
ClinGen gnomAD |
|
|
rs776438085 CA4630497 |
453 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370316674 rs764918269 |
454 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764918269 CA4630500 |
454 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630499 rs759125582 |
454 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs546511658 CA370316679 |
455 | P>A | No |
ClinGen gnomAD |
|
|
CA370316682 rs1462081590 |
455 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370316681 rs1462081590 |
455 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs546511658 CA172095320 |
455 | P>S | No |
ClinGen gnomAD |
|
|
CA4630501 rs201853907 |
456 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762537605 CA4630502 |
457 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762537605 CA370316694 |
457 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376977643 CA172095346 |
458 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370316700 rs768186304 |
458 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630503 rs768186304 |
458 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs922256503 CA172095347 |
459 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs577930155 CA172095348 |
459 | T>S | No |
ClinGen 1000Genomes |
|
|
rs1235420104 CA370316727 |
461 | P>A | No |
ClinGen gnomAD |
|
|
rs756604360 CA4630505 |
461 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1321305245 CA370316748 |
463 | E>K | No |
ClinGen gnomAD |
|
|
CA370316776 rs1253089134 |
465 | Y>* | No |
ClinGen gnomAD |
|
|
CA4630511 rs754170079 |
465 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1343166542 CA370316768 |
465 | Y>H | No |
ClinGen TOPMed |
|
|
rs767202084 CA4630513 |
466 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs767202084 CA4630512 |
466 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1181355220 CA370316781 |
466 | R>H | No |
ClinGen gnomAD |
|
|
CA4630514 rs748278828 |
467 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1258026565 CA370316784 |
467 | G>S | No |
ClinGen gnomAD |
|
|
CA370316814 rs772111389 |
470 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630515 rs772111389 |
470 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171913284 CA370316821 |
471 | E>K | No |
ClinGen gnomAD |
|
|
CA370316857 rs1428445234 |
474 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1307933999 CA370316858 |
474 | R>H | No |
ClinGen gnomAD |
|
|
CA370316854 rs1428445234 |
474 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370316867 rs1417043093 |
475 | S>N | No |
ClinGen gnomAD |
|
|
rs1215314462 CA370316879 |
476 | R>L | No |
ClinGen gnomAD |
|
|
rs1215314462 CA370316877 |
476 | R>Q | No |
ClinGen gnomAD |
|
|
CA4630520 rs759403037 |
477 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370316896 rs1486585950 |
478 | E>G | No |
ClinGen gnomAD |
|
|
rs1280998024 CA370316890 |
478 | E>K | No |
ClinGen gnomAD |
|
|
CA172095396 rs538660229 |
479 | E>Q | No |
ClinGen 1000Genomes |
|
|
CA370316914 rs762588458 |
480 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370316924 rs1187893991 |
481 | P>S | No |
ClinGen gnomAD |
|
|
CA370316933 rs1448315685 |
482 | T>A | No |
ClinGen gnomAD |
|
|
rs1585427892 CA370316938 |
482 | T>I | No |
ClinGen Ensembl |
|
|
rs751027194 CA4630525 |
484 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763539850 CA4630524 |
484 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763539850 CA370316952 |
484 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370316960 rs1437057604 |
485 | F>I | No |
ClinGen gnomAD |
|
|
rs1332609413 CA370316969 |
485 | F>L | No |
ClinGen gnomAD |
|
|
rs977993440 CA370316980 |
487 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA370316984 rs1234314253 |
487 | Q>H | No |
ClinGen gnomAD |
|
|
rs977993440 CA172095408 |
487 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4630528 rs766841412 |
487 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630527 rs766841412 |
487 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172095423 rs933997183 |
488 | S>* | No |
ClinGen TOPMed |
|
|
rs1227797957 CA370316995 |
489 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370317011 rs1349970918 |
491 | E>K | No |
ClinGen gnomAD |
|
|
rs779147907 CA4630530 |
494 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1333279161 CA370317063 |
495 | T>M | No |
ClinGen TOPMed |
|
|
CA4630532 rs758567766 |
496 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172095460 rs758567766 |
496 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4630533 rs777732510 |
497 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1200873961 CA370317083 |
498 | E>Q | No |
ClinGen Ensembl |
|
|
rs1053861971 CA370317093 |
499 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs770844410 CA370317097 |
499 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770844410 CA4630535 |
499 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370317094 rs1053861971 |
499 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA370317102 rs1254262220 |
500 | Q>* | No |
ClinGen gnomAD |
|
|
CA370317124 rs745703573 |
502 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745703573 CA4630537 |
502 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370317129 rs1401683992 |
502 | E>V | No |
ClinGen gnomAD |
|
|
CA370317147 rs1386746636 |
504 | Q>R | No |
ClinGen gnomAD |
|
|
rs1436997168 CA370317157 |
505 | P>H | No |
ClinGen TOPMed |
2 associated diseases with P51451
[MIM: 616937]: Thrombocytopenia 6 (THC6)
A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis. {ECO:0000269|PubMed:26936507}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis. {ECO:0000269|PubMed:26936507}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P51451
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 198 - 388 | IPR000219 |
| domain | Ras-like guanine nucleotide exchange factor, N-terminal | 594 - 739 | IPR000651 |
| domain | Pleckstrin homology domain | 441 - 546 | IPR001849 |
| domain | Ras guanine-nucleotide exchange factors catalytic domain | 774 - 1018 | IPR001895 |
| conserved_site | Ras guanine-nucleotide exchange factor, conserved site | 925 - 958 | IPR019804 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction |
| protein tyrosine kinase activity | Catalysis of the reaction |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. |
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
90 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNB0 | FYN | Tyrosine-protein kinase Fyn | Bos taurus (Bovine) | SS |
| Q0VBZ0 | CSK | Tyrosine-protein kinase CSK | Bos taurus (Bovine) | SS |
| Q3ZC95 | BTK | Tyrosine-protein kinase | Bos taurus (Bovine) | EV SS |
| P42683 | LCK | Proto-oncogene tyrosine-protein kinase LCK | Gallus gallus (Chicken) | SS |
| P41239 | CSK | Tyrosine-protein kinase CSK | Gallus gallus (Chicken) | SS |
| P00523 | SRC | Proto-oncogene tyrosine-protein kinase Src | Gallus gallus (Chicken) | EV |
| Q02977 | YRK | Proto-oncogene tyrosine-protein kinase Yrk | Gallus gallus (Chicken) | SS |
| Q8JH64 | BTK | Tyrosine-protein kinase BTK | Gallus gallus (Chicken) | SS |
| P09324 | YES1 | Tyrosine-protein kinase Yes | Gallus gallus (Chicken) | SS |
| Q05876 | FYN | Tyrosine-protein kinase Fyn | Gallus gallus (Chicken) | SS |
| Q75R65 | JAK2 | Tyrosine-protein kinase JAK2 | Gallus gallus (Chicken) | SS |
| Q24592 | hop | Tyrosine-protein kinase hopscotch | Drosophila melanogaster (Fruit fly) | PR |
| P08630 | Btk | Tyrosine-protein kinase Btk | Drosophila melanogaster (Fruit fly) | SS |
| P00528 | Src64B | Tyrosine-protein kinase Src64B | Drosophila melanogaster (Fruit fly) | SS |
| Q9V9J3 | Src42A | Tyrosine-protein kinase Src42A | Drosophila melanogaster (Fruit fly) | SS |
| P23458 | JAK1 | Tyrosine-protein kinase JAK1 | Homo sapiens (Human) | SS |
| O60674 | JAK2 | Tyrosine-protein kinase JAK2 | Homo sapiens (Human) | EV |
| P52333 | JAK3 | Tyrosine-protein kinase JAK3 | Homo sapiens (Human) | SS |
| P29597 | TYK2 | Non-receptor tyrosine-protein kinase TYK2 | Homo sapiens (Human) | EV |
| P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
| P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
| P41240 | CSK | Tyrosine-protein kinase CSK | Homo sapiens (Human) | SS |
| P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
| P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
| Q08881 | ITK | Tyrosine-protein kinase ITK/TSK | Homo sapiens (Human) | EV |
| P43405 | SYK | Tyrosine-protein kinase SYK | Homo sapiens (Human) | EV |
| P43403 | ZAP70 | Tyrosine-protein kinase ZAP-70 | Homo sapiens (Human) | EV |
| Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
| P07948 | LYN | Tyrosine-protein kinase Lyn | Homo sapiens (Human) | SS |
| P06241 | FYN | Tyrosine-protein kinase Fyn | Homo sapiens (Human) | SS |
| P12931 | SRC | Proto-oncogene tyrosine-protein kinase Src | Homo sapiens (Human) | EV |
| P06239 | LCK | Tyrosine-protein kinase Lck | Homo sapiens (Human) | EV |
| P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
| P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
| Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
| P42679 | MATK | Megakaryocyte-associated tyrosine-protein kinase | Homo sapiens (Human) | SS |
| Q14289 | PTK2B | Protein-tyrosine kinase 2-beta | Homo sapiens (Human) | PR |
| Q05397 | PTK2 | Focal adhesion kinase 1 | Homo sapiens (Human) | EV |
| Q13470 | TNK1 | Non-receptor tyrosine-protein kinase TNK1 | Homo sapiens (Human) | PR |
| Q07912 | TNK2 | Activated CDC42 kinase 1 | Homo sapiens (Human) | EV |
| P16591 | FER | Tyrosine-protein kinase Fer | Homo sapiens (Human) | PR |
| Q6J9G0 | STYK1 | Tyrosine-protein kinase STYK1 | Homo sapiens (Human) | PR |
| P42684 | ABL2 | Tyrosine-protein kinase ABL2 | Homo sapiens (Human) | SS |
| P00519 | ABL1 | Tyrosine-protein kinase ABL1 | Homo sapiens (Human) | EV |
| Q9R117 | Tyk2 | Non-receptor tyrosine-protein kinase TYK2 | Mus musculus (Mouse) | SS |
| P08103 | Hck | Tyrosine-protein kinase HCK | Mus musculus (Mouse) | SS |
| Q62270 | Srms | Tyrosine-protein kinase Srms | Mus musculus (Mouse) | SS |
| Q64434 | Ptk6 | Protein-tyrosine kinase 6 | Mus musculus (Mouse) | SS |
| P05480 | Src | Proto-oncogene tyrosine-protein kinase Src | Mus musculus (Mouse) | EV |
| P14234 | Fgr | Tyrosine-protein kinase Fgr | Mus musculus (Mouse) | SS |
| P35991 | Btk | Tyrosine-protein kinase BTK | Mus musculus (Mouse) | EV |
| P41241 | Csk | Tyrosine-protein kinase CSK | Mus musculus (Mouse) | EV |
| P25911 | Lyn | Tyrosine-protein kinase Lyn | Mus musculus (Mouse) | EV |
| Q62137 | Jak3 | Tyrosine-protein kinase JAK3 | Mus musculus (Mouse) | SS |
| Q62120 | Jak2 | Tyrosine-protein kinase JAK2 | Mus musculus (Mouse) | EV |
| P06240 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Mus musculus (Mouse) | SS |
| P24604 | Tec | Tyrosine-protein kinase Tec | Mus musculus (Mouse) | SS |
| Q04736 | Yes1 | Tyrosine-protein kinase Yes | Mus musculus (Mouse) | SS |
| P39688 | Fyn | Tyrosine-protein kinase Fyn | Mus musculus (Mouse) | SS |
| P52332 | Jak1 | Tyrosine-protein kinase JAK1 | Mus musculus (Mouse) | SS |
| Q03526 | Itk | Tyrosine-protein kinase ITK/TSK | Mus musculus (Mouse) | SS |
| P41242 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| Q922K9 | Frk | Tyrosine-protein kinase FRK | Mus musculus (Mouse) | SS |
| P16277 | Blk | Tyrosine-protein kinase Blk | Mus musculus (Mouse) | SS |
| A1Y2K1 | FYN | Tyrosine-protein kinase Fyn | Sus scrofa (Pig) | SS |
| O19064 | JAK2 | Tyrosine-protein kinase JAK2 | Sus scrofa (Pig) | SS |
| Q62662 | Frk | Tyrosine-protein kinase FRK | Rattus norvegicus (Rat) | SS |
| Q62844 | Fyn | Tyrosine-protein kinase Fyn | Rattus norvegicus (Rat) | SS |
| Q07014 | Lyn | Tyrosine-protein kinase Lyn | Rattus norvegicus (Rat) | SS |
| P50545 | Hck | Tyrosine-protein kinase HCK | Rattus norvegicus (Rat) | SS |
| Q9WUD9 | Src | Proto-oncogene tyrosine-protein kinase Src | Rattus norvegicus (Rat) | SS |
| Q01621 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Rattus norvegicus (Rat) | SS |
| Q6P6U0 | Fgr | Tyrosine-protein kinase Fgr | Rattus norvegicus (Rat) | SS |
| Q62689 | Jak2 | Tyrosine-protein kinase JAK2 | Rattus norvegicus (Rat) | SS |
| Q63272 | Jak3 | Tyrosine-protein kinase JAK3 | Rattus norvegicus (Rat) | SS |
| P32577 | Csk | Tyrosine-protein kinase CSK | Rattus norvegicus (Rat) | SS |
| P41243 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Rattus norvegicus (Rat) | SS |
| F1LM93 | Yes1 | Tyrosine-protein kinase Yes | Rattus norvegicus (Rat) | SS |
| G5ECJ6 | csk-1 | Tyrosine-protein kinase csk-1 | Caenorhabditis elegans | SS |
| O45539 | src-2 | Tyrosine protein-kinase src-2 | Caenorhabditis elegans | SS |
| G5EE56 | src-1 | Tyrosine protein-kinase src-1 | Caenorhabditis elegans | SS |
| Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A1A5H8 | yes1 | Tyrosine-protein kinase yes | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| F1RDG9 | fynb | Tyrosine-protein kinase fynb | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O12990 | jak1 | Tyrosine-protein kinase JAK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1JPZ3 | src | Proto-oncogene tyrosine-protein kinase Src | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6EWH2 | fyna | Tyrosine-protein kinase fyna | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLVSSKKPD | KEKPIKEKDK | GQWSPLKVSA | QDKDAPPLPP | LVVFNHLTPP | PPDEHLDEDK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HFVVALYDYT | AMNDRDLQML | KGEKLQVLKG | TGDWWLARSL | VTGREGYVPS | NFVARVESLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MERWFFRSQG | RKEAERQLLA | PINKAGSFLI | RESETNKGAF | SLSVKDVTTQ | GELIKHYKIR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CLDEGGYYIS | PRITFPSLQA | LVQHYSKKGD | GLCQRLTLPC | VRPAPQNPWA | QDEWEIPRQS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LRLVRKLGSG | QFGEVWMGYY | KNNMKVAIKT | LKEGTMSPEA | FLGEANVMKA | LQHERLVRLY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AVVTKEPIYI | VTEYMARGCL | LDFLKTDEGS | RLSLPRLIDM | SAQIAEGMAY | IERMNSIHRD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LRAANILVSE | ALCCKIADFG | LARIIDSEYT | AQEGAKFPIK | WTAPEAIHFG | VFTIKADVWS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FGVLLMEVVT | YGRVPYPGMS | NPEVIRNLER | GYRMPRPDTC | PPELYRGVIA | ECWRSRPEER |
| 490 | 500 | ||||
| PTFEFLQSVL | EDFYTATERQ | YELQP |