O94989
SS
Gene name |
ARHGEF15 (KIAA0915) |
Protein name |
Rho guanine nucleotide exchange factor 15 |
Names |
Ephexin-5, E5, Vsm-RhoGEF |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22899 |
EC number |
|
Protein Class |
|
Descriptions
ARHGEF15 regulates vascular smooth muscle contractility and negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2. It is predicted to contain an autoinhibitory helix between 349-356 by sequence similarity with the inhibitory region (175-182) in NGEF (Q8N5V2).
Autoinhibitory domains (AIDs)
Target domain |
417-601 (DH domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
References
- Yohe ME et al. (2008) "Role of the C-terminal SH3 domain and N-terminal tyrosine phosphorylation in regulation of Tim and related Dbl-family proteins", Biochemistry, 47, 6827-39
- Yohe ME et al. (2007) "Auto-inhibition of the Dbl family protein Tim by an N-terminal helical motif", The Journal of biological chemistry, 282, 13813-23
Autoinhibited structure
Activated structure
1 structures for O94989
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O94989-F1 | Predicted | AlphaFoldDB |
745 variants for O94989
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs150480540 CA8374761 RCV000636441 |
12 | P>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1486076923 CA398013312 RCV000636374 |
21 | R>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137909519 RCV000229156 CA8374776 |
23 | R>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753172300 CA8374778 RCV000792620 |
23 | R>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199663714 RCV000556051 CA8374784 |
27 | R>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000704460 CA398013360 rs1567673612 |
31 | A>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398013368 RCV000707036 rs1356825841 |
32 | Q>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8374807 rs747885678 RCV000697739 |
65 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000471667 VAR_057189 CA8374810 rs9890841 |
73 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA398013849 rs1200503544 RCV000699664 |
78 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8374819 RCV000463008 rs375343071 |
89 | T>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000471432 CA8374831 rs139532485 |
108 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8374834 RCV000689754 rs777250745 |
114 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000636333 rs773380012 CA8374836 COSM986271 |
115 | R>W | Early infantile epileptic encephalopathy with suppression bursts endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000636287 CA8374840 rs751244420 |
120 | P>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs115065009 CA8374852 RCV000470584 |
133 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761174975 RCV001296307 |
141 | N>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs116075794 RCV000554719 CA8374865 |
159 | G>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000471441 CA16615747 rs1060500050 |
164 | R>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16616028 COSM1679554 rs1031646825 RCV000468544 |
164 | R>W | Early infantile epileptic encephalopathy with suppression bursts haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA8374876 rs147736312 RCV000696005 |
171 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000636308 CA398015147 rs1222652387 |
198 | G>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000585881 rs1555546796 |
237 | V>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636295 rs200249246 COSM417899 CA8374962 |
239 | R>C | Early infantile epileptic encephalopathy with suppression bursts urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001302275 rs1904759489 |
243 | P>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538897 rs1217153535 CA398016098 |
256 | I>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs754752504 RCV000707614 CA398016474 |
280 | P>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000477337 rs554267583 CA8375003 |
285 | R>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000706167 rs199835687 CA287571060 |
290 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16615750 rs1060500049 RCV000462128 |
327 | V>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146014287 CA8375071 RCV000529854 |
349 | D>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060500048 RCV000477241 |
368 | V>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319645 rs1904933367 |
408 | L>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461251 rs142119277 CA8375112 |
417 | R>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA287571674 rs1051815618 RCV000690788 |
446 | S>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8375161 rs113425529 RCV000460363 |
471 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000699616 CA8375188 rs147556222 |
488 | H>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8375233 RCV000534035 rs142667369 |
546 | R>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000702905 CA287571841 rs924531335 |
558 | Q>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1130108 CA8375273 rs771433483 RCV000636402 |
572 | R>H | Early infantile epileptic encephalopathy with suppression bursts large_intestine prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398022614 RCV000694974 rs1567678599 |
573 | Q>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8375311 rs781295246 RCV000558653 |
597 | R>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000459064 rs141885648 CA8375324 COSM1159221 |
613 | R>W | Early infantile epileptic encephalopathy with suppression bursts pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001430880 rs373534537 RCV000225921 CA8375328 |
619 | R>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16615769 rs1060500051 RCV000476508 |
622 | K>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs866103468 RCV001247515 |
628 | L>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA174872 COSM1179027 RCV000149369 rs193921031 |
633 | R>W | Malignant tumor of prostate large_intestine prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000693490 rs375563358 CA8375354 |
640 | E>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757242848 RCV000691752 CA8375367 |
650 | G>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771609829 CA8375376 RCV000701910 |
658 | R>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398024321 rs1480801589 RCV000636337 |
690 | R>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs762341051 CA8375423 RCV000685716 |
698 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398024494 RCV000534858 rs1555547506 |
701 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000547467 CA8375446 COSM278965 rs775473270 |
734 | R>H | Early infantile epileptic encephalopathy with suppression bursts pancreas large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001347757 rs1905226930 |
735 | W>* | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348579 rs138590059 |
747 | C>* | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200402507 CA8375490 RCV000636359 |
766 | S>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8375501 RCV000229905 rs79993581 |
775 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs76729434 RCV000474674 CA8375513 |
789 | T>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8375528 rs202178259 RCV000636262 |
798 | P>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs112463375 RCV000468067 CA8375542 |
821 | Q>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA398026123 RCV000791830 rs1416824768 |
829 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000549412 CA8375549 rs115597604 |
832 | S>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000525543 rs114610832 CA8375550 |
835 | T>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8375557 RCV000227573 RCV002057243 rs552154823 |
840 | P>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs769841479 RCV000542691 |
841 | P>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398013214 rs1243070227 |
3 | A>G | No |
ClinGen TOPMed |
|
|
CA398013217 rs1179868342 |
4 | Q>* | No |
ClinGen TOPMed |
|
|
CA8374756 rs766492902 |
4 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377215372 CA8374757 |
5 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8374758 rs370353838 |
6 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781554254 CA8374759 |
10 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753043864 CA8374760 |
11 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA398013262 rs1320261396 |
12 | P>L | No |
ClinGen gnomAD |
|
|
rs150480540 CA8374762 |
12 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8374767 rs373751727 |
13 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8374765 rs373751727 |
13 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1366405067 CA398013265 |
13 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8374766 rs373751727 |
13 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1311290761 CA398013282 |
15 | K>N | No |
ClinGen gnomAD |
|
|
rs760472050 CA8374769 |
16 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA287567806 rs201132203 |
16 | P>H | No |
ClinGen 1000Genomes |
|
|
CA398013288 rs1444722449 |
17 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA287567807 rs200187886 |
18 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8374771 rs773399469 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200187886 CA8374770 |
18 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs766441392 CA8374773 |
21 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759543489 CA8374775 |
22 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374777 rs753172300 |
23 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374779 rs778333425 |
24 | P>L | No |
ClinGen ExAC |
|
|
CA8374781 rs757041347 |
25 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778438745 CA8374783 |
27 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs199663714 CA8374785 |
27 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8374782 rs778438745 |
27 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs768425008 CA8374787 |
28 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397152541 CA398013349 |
29 | R>T | No |
ClinGen gnomAD |
|
|
rs747941402 CA8374789 |
30 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356825841 CA398013367 |
32 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1567673626 CA398013376 |
33 | S>C | No |
ClinGen Ensembl |
|
|
CA398013387 rs887317779 |
35 | G>A | No |
ClinGen gnomAD |
|
|
CA287567866 rs887317779 |
35 | G>E | No |
ClinGen gnomAD |
|
|
CA8374790 rs771083328 |
41 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1217742753 CA398013433 |
42 | S>F | No |
ClinGen gnomAD |
|
|
rs1597460328 CA398013428 |
42 | S>P | No |
ClinGen Ensembl |
|
|
rs759618158 CA8374792 |
43 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8374793 COSM708524 rs767530864 |
45 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776040469 CA8374794 |
47 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868447593 CA287567891 |
47 | P>H | No |
ClinGen Ensembl |
|
|
rs776040469 CA398013459 |
47 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287567900 rs938835951 |
48 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs761325531 CA8374795 COSM243039 |
48 | R>Q | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8374796 rs764552552 |
49 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1421216121 COSM73720 CA398013537 |
54 | P>A | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757713568 CA8374798 |
54 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1421216121 CA398013539 |
54 | P>S | No |
ClinGen gnomAD |
|
|
rs764895048 CA8374799 |
55 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374800 rs764895048 |
55 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764895048 CA287567908 |
55 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894742462 CA287567913 |
56 | P>A | No |
ClinGen Ensembl |
|
|
rs1315367106 CA398013570 |
57 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA287567927 rs1013087110 |
59 | T>I | No |
ClinGen gnomAD |
|
|
CA398013602 rs1407525714 |
59 | T>P | No |
ClinGen gnomAD |
|
|
CA398013607 rs1407525714 |
59 | T>S | No |
ClinGen gnomAD |
|
|
CA8374803 rs149371094 |
60 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398013645 rs1311404858 |
62 | F>I | No |
ClinGen gnomAD |
|
|
rs781120709 CA8374806 |
65 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA398013693 rs781120709 |
65 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204575052 CA398013704 |
66 | P>A | No |
ClinGen gnomAD |
|
|
CA8374809 rs774598794 |
72 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA398013794 rs1158553737 |
73 | P>R | No |
ClinGen TOPMed |
|
|
CA398013800 rs1176069266 |
74 | A>T | No |
ClinGen gnomAD |
|
|
CA287567955 rs116672634 |
75 | L>I | No |
ClinGen 1000Genomes |
|
|
CA8374811 rs772181833 |
76 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398013829 rs1388917998 |
76 | L>W | No |
ClinGen gnomAD |
|
|
CA398013838 rs1597460474 |
77 | P>T | No |
ClinGen Ensembl |
|
|
rs1169087712 CA398013855 |
78 | P>L | No |
ClinGen gnomAD |
|
|
rs375572484 CA8374812 |
79 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398013866 rs375572484 |
79 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443851563 CA398013880 |
80 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760844935 CA8374813 |
82 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA398013899 rs1366627383 |
82 | R>K | No |
ClinGen gnomAD |
|
|
rs764642472 CA8374814 |
83 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8374815 rs777300086 |
85 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398013967 rs1597460515 |
86 | D>A | No |
ClinGen Ensembl |
|
|
rs146257701 CA8374817 |
86 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA287568001 rs987055302 |
91 | P>R | No |
ClinGen Ensembl |
|
|
CA398014029 rs1246608860 |
91 | P>T | No |
ClinGen gnomAD |
|
|
rs1597460544 CA398014037 |
92 | D>A | No |
ClinGen Ensembl |
|
|
rs754506677 CA8374823 |
96 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1419523261 CA398014074 |
97 | T>N | No |
ClinGen gnomAD |
|
|
CA8374825 rs752668239 |
100 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1162233460 CA398014087 |
100 | P>S | No |
ClinGen gnomAD |
|
|
CA8374827 rs777484923 |
105 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375648145 CA8374826 |
105 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8374828 RCV000503231 rs144080590 |
106 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146482304 CA398014153 |
106 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146482304 CA8374829 |
106 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372533490 CA287568019 |
107 | S>P | No |
ClinGen ESP TOPMed |
|
|
CA398014180 rs1292970195 |
108 | A>V | No |
ClinGen Ensembl |
|
|
rs1215814924 CA398014231 |
112 | P>R | No |
ClinGen gnomAD |
|
|
CA8374835 rs770188779 |
114 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374833 rs777250745 |
114 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763386020 CA8374837 |
115 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA398014301 rs1416553054 |
117 | P>L | No |
ClinGen gnomAD |
|
|
CA398014329 rs926440781 |
119 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1240171315 CA398014334 |
119 | P>L | No |
ClinGen TOPMed |
|
|
rs926440781 CA398014331 |
119 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA287568053 rs926440781 |
119 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751244420 CA398014343 |
120 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751244420 CA8374839 |
120 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318870002 CA398014353 |
121 | P>L | No |
ClinGen gnomAD |
|
|
CA398014365 rs571400409 |
122 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756075166 CA8374843 |
123 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374842 rs752615298 |
123 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8374845 rs753519754 |
125 | G>R | No |
ClinGen ExAC |
|
|
rs780387549 CA398014413 |
127 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780387549 CA8374847 |
127 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286765742 CA398014410 |
127 | P>S | No |
ClinGen gnomAD |
|
|
rs1337811894 CA398014422 |
128 | C>S | No |
ClinGen TOPMed |
|
|
rs747278375 CA8374848 |
129 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374850 rs368543027 |
130 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs115065009 CA398014469 |
133 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773787456 CA8374853 |
134 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597460709 CA398014496 |
136 | G>R | No |
ClinGen Ensembl |
|
|
CA398014512 rs1597460714 |
137 | V>G | No |
ClinGen Ensembl |
|
|
COSM1387649 rs200188980 CA8374854 |
139 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA398014575 rs1412629160 |
143 | S>Y | No |
ClinGen gnomAD |
|
|
rs1312204487 CA398014586 |
144 | A>D | No |
ClinGen gnomAD |
|
|
rs1392293726 CA398014584 |
144 | A>T | No |
ClinGen gnomAD |
|
|
rs1309660361 CA398014592 |
145 | S>P | No |
ClinGen gnomAD |
|
|
CA8374858 rs759243254 |
146 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs773969766 CA8374857 |
146 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1417050466 CA398014612 |
147 | P>R | No |
ClinGen TOPMed |
|
|
rs148813316 CA8374859 |
148 | G>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA398014640 rs1314743694 |
150 | V>A | No |
ClinGen gnomAD |
|
|
CA8374860 rs752082895 |
150 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8374862 rs374195875 |
151 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8374861 rs760247454 |
151 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597460782 CA398014650 |
152 | R>G | No |
ClinGen Ensembl |
|
|
CA398014669 rs1181728511 |
154 | A>S | No |
ClinGen TOPMed |
|
|
rs17857129 CA398014680 |
155 | G>D | No |
ClinGen gnomAD |
|
|
CA8374863 rs753845921 |
155 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA287568119 VAR_054215 rs17857129 |
155 | G>V | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA8374864 rs756974695 |
157 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597460799 CA398014700 |
157 | F>V | No |
ClinGen Ensembl |
|
|
rs116075794 CA8374866 |
159 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA287568131 rs536796205 |
160 | G>D | No |
ClinGen gnomAD |
|
|
rs755181959 CA8374867 |
160 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8374869 rs781575113 |
163 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756244846 CA8374871 |
165 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756244846 CA8374872 |
165 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1436537035 CA398014776 |
165 | A>V | No |
ClinGen gnomAD |
|
|
rs890547379 CA287568147 |
166 | Q>R | No |
ClinGen gnomAD |
|
|
rs1597460855 CA398014795 |
167 | D>G | No |
ClinGen Ensembl |
|
|
rs368035234 CA8374873 |
167 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536515839 CA8374875 |
169 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1440687858 CA398014830 |
170 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398014859 rs1226875462 |
172 | E>D | No |
ClinGen gnomAD |
|
|
CA8374878 rs775232310 |
173 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1443835154 CA398014877 |
174 | G>A | No |
ClinGen TOPMed |
|
|
rs1338187798 CA398014884 |
175 | L>F | No |
ClinGen gnomAD |
|
|
rs375713883 CA287568169 |
177 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8374879 rs760064314 |
177 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM986272 rs375713883 CA8374880 |
177 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA398014984 rs1455487845 |
184 | E>* | No |
ClinGen gnomAD |
|
|
CA8374883 rs142622501 |
188 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186599242 CA398015033 |
188 | P>S | No |
ClinGen gnomAD |
|
|
CA8374886 rs758287768 |
191 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA398015068 rs1461153118 |
191 | G>V | No |
ClinGen gnomAD |
|
|
rs200099841 CA398015076 |
192 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200099841 CA8374887 |
192 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1597460939 CA398015090 |
193 | G>E | No |
ClinGen Ensembl |
|
|
CA398015086 rs1433444855 |
193 | G>R | No |
ClinGen gnomAD |
|
|
rs938432141 CA287568202 |
196 | E>D | No |
ClinGen Ensembl |
|
|
rs1479737966 CA398015121 |
196 | E>K | No |
ClinGen TOPMed |
|
|
rs367942685 CA8374891 |
197 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757692544 CA8374892 |
199 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271460860 CA398015170 |
200 | P>L | No |
ClinGen gnomAD |
|
|
rs114491707 CA8374893 |
201 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769414428 CA8374939 |
203 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777492226 CA287568410 |
205 | A>S | No |
ClinGen ExAC |
|
|
CA8374941 rs777492226 |
205 | A>T | No |
ClinGen ExAC |
|
|
CA398015341 rs1373775659 |
209 | C>G | No |
ClinGen gnomAD |
|
|
rs868133746 CA287568415 |
211 | P>L | No |
ClinGen Ensembl |
|
|
CA398015404 rs1240765825 |
213 | V>F | No |
ClinGen TOPMed |
|
|
rs774179430 CA8374944 |
214 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8374945 rs759338277 |
214 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8374947 rs566069197 |
217 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8374950 rs773212868 |
218 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374949 rs200767050 |
218 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1306751298 CA398015507 |
220 | G>R | No |
ClinGen TOPMed |
|
|
CA8374951 rs762958494 |
224 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA287568429 rs867715249 |
225 | W>* | No |
ClinGen Ensembl |
|
|
CA8374953 rs752043963 |
228 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA398015673 rs1455044611 |
229 | G>R | No |
ClinGen gnomAD |
|
|
CA398015691 rs548334478 |
230 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1196063804 CA398015684 |
230 | G>S | No |
ClinGen gnomAD |
|
|
CA8374954 rs548334478 |
230 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398015707 rs1336176322 |
231 | Y>F | No |
ClinGen TOPMed |
|
|
rs369292842 CA8374956 |
232 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1173084951 CA398015735 |
233 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1461779060 CA398015766 |
234 | V>D | No |
ClinGen TOPMed |
|
|
CA398015763 rs1296727308 |
234 | V>F | No |
ClinGen TOPMed |
|
|
CA8374958 rs777579935 |
236 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs34046779 CA287568457 |
236 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8374961 rs778880579 |
238 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200249246 CA398015850 |
239 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771841639 CA8374963 |
239 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs746815306 CA398015869 |
240 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374965 rs746815306 |
240 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775334628 CA8374964 COSM116466 |
240 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA398015872 rs1272873784 |
241 | A>T | No |
ClinGen gnomAD |
|
|
rs1469244952 CA398015898 |
242 | S>F | No |
ClinGen gnomAD |
|
|
CA8374966 rs769948298 |
243 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766415435 COSM986274 CA8374969 |
245 | R>Q | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs371870992 CA8374968 |
245 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774905343 CA398015947 |
246 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760027686 CA8374971 |
246 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760027686 CA398015954 |
246 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774905343 CA8374970 |
246 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374972 rs768143236 |
248 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8374973 rs376834708 |
248 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768143236 CA398015981 |
248 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343318968 CA398016000 |
249 | S>C | No |
ClinGen gnomAD |
|
|
rs1343318968 CA398016001 COSM372837 |
249 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756569021 CA8374974 |
250 | R>C | No |
ClinGen ExAC TOPMed |
|
|
rs763801843 CA8374975 |
250 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763801843 CA398016012 |
250 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763801843 CA398016009 |
250 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287568502 rs770267778 |
251 | P>R | No |
ClinGen Ensembl |
|
|
CA398016033 rs1342460023 |
252 | H>D | No |
ClinGen gnomAD |
|
|
CA398016036 rs1317255418 |
252 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA398016038 rs1317255418 |
252 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1235576831 CA398016074 |
255 | S>N | No |
ClinGen gnomAD |
|
|
CA398016066 rs1335888179 |
255 | S>R | No |
ClinGen gnomAD |
|
|
rs1235576831 CA398016073 |
255 | S>T | No |
ClinGen gnomAD |
|
|
CA398016087 rs1446881098 |
256 | I>V | No |
ClinGen gnomAD |
|
|
CA8374980 rs758268978 |
257 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746760213 CA8374982 |
258 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA8374984 rs773458439 |
261 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475346467 CA398016220 |
265 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8374986 rs771035247 |
266 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398016248 rs1399970108 |
266 | Y>S | No |
ClinGen gnomAD |
|
|
rs201741922 CA8374987 |
267 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362528188 CA398016264 COSM274035 |
267 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8374988 rs199784247 |
269 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398016297 rs1312470821 |
269 | T>I | No |
ClinGen gnomAD |
|
|
rs1312470821 CA398016292 |
269 | T>N | No |
ClinGen gnomAD |
|
|
rs1486202947 CA398016312 |
270 | A>V | No |
ClinGen gnomAD |
|
|
rs1238534737 CA398016314 |
271 | E>Q | No |
ClinGen TOPMed |
|
|
rs149554572 CA8374989 |
272 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113540851 CA287568540 |
272 | R>H | No |
ClinGen Ensembl |
|
|
rs776170436 CA8374990 |
273 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs764603938 CA8374992 |
274 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761092411 CA8374991 |
274 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA398016396 rs1477803186 |
275 | L>P | No |
ClinGen gnomAD |
|
|
rs764950333 CA8374996 |
277 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398016424 rs871841 |
277 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_054216 CA8374997 rs871841 |
277 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8374995 rs764950333 |
277 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8374998 rs779930486 |
278 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8374999 rs751544908 |
279 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375000 rs754752504 |
280 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8375001 rs780911424 |
282 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375002 rs747978063 |
285 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554267583 CA8375004 |
285 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398016564 rs747978063 |
285 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745901627 CA8375005 |
288 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8375007 rs114472686 |
289 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8375006 rs114472686 |
289 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200629405 CA8375009 |
290 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs200629405 CA8375008 |
290 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776798109 CA8375010 |
291 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs762256144 CA8375011 |
292 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750124153 CA8375013 |
294 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375015 rs762424472 |
295 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1278904038 CA398017806 |
295 | D>N | No |
ClinGen gnomAD |
|
|
rs1436984970 CA398017860 |
296 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8375016 rs765929597 |
296 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751489982 CA8375017 |
297 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375019 rs781202453 |
297 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1709789 rs751489982 CA8375018 |
297 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8375020 rs371577203 |
299 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398017921 rs371577203 |
299 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287571074 rs371577203 |
299 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398017995 rs1479074546 |
302 | D>Y | No |
ClinGen gnomAD |
|
|
CA8375022 rs778970122 |
305 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1395987178 CA398018059 |
306 | E>K | No |
ClinGen gnomAD |
|
|
CA8375023 rs746143138 |
308 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8375044 rs376805138 |
312 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8375045 rs750671470 |
313 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531197696 CA8375046 |
313 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398018205 rs1179127597 |
314 | S>G | No |
ClinGen TOPMed |
|
|
CA398018208 rs1203317716 |
314 | S>N | No |
ClinGen gnomAD |
|
|
rs780440591 CA8375047 |
316 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375048 rs747039155 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs755121072 CA8375049 |
318 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA398018262 rs1251469905 |
319 | P>S | No |
ClinGen TOPMed |
|
|
CA287571180 rs756469375 |
320 | Q>K | No |
ClinGen Ensembl |
|
|
CA398018295 rs1597461950 |
322 | T>P | No |
ClinGen Ensembl |
|
|
CA8375051 rs748744226 |
325 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770046438 CA8375052 |
328 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1370581711 CA398018366 |
329 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398018457 rs1260229949 |
331 | E>K | No |
ClinGen gnomAD |
|
|
rs1306064623 CA398018482 |
332 | E>D | No |
ClinGen gnomAD |
|
|
CA398018484 rs1306064623 |
332 | E>D | No |
ClinGen gnomAD |
|
|
CA398018471 rs1389503044 |
332 | E>K | No |
ClinGen gnomAD |
|
|
rs1377488081 CA398018485 |
333 | E>K | No |
ClinGen gnomAD |
|
|
rs766671999 CA398018499 |
334 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375064 rs766671999 |
334 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781395807 CA8375067 COSM4151814 |
336 | E>D | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8375066 rs754993564 |
336 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1387991615 CA398018536 |
338 | L>P | No |
ClinGen TOPMed |
|
|
CA398018557 rs1195540162 |
340 | E>* | No |
ClinGen gnomAD |
|
|
CA398018673 rs1156679943 |
346 | P>L | No |
ClinGen TOPMed |
|
|
rs778272365 CA8375070 |
346 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375072 rs771324501 |
349 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs908159482 CA287571576 |
357 | R>* | No |
ClinGen gnomAD |
|
|
rs754392267 CA8375089 |
360 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242659014 CA398019028 |
364 | E>A | No |
ClinGen gnomAD |
|
|
rs776495574 CA8375091 |
366 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776495574 CA398019048 |
366 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375090 rs776495574 |
366 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398019060 rs1323776395 |
367 | G>E | No |
ClinGen gnomAD |
|
|
CA287571583 rs746223199 |
367 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746223199 CA8375092 |
367 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375093 rs746223199 |
367 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349178299 CA398019070 |
368 | V>L | No |
ClinGen gnomAD |
|
|
CA398019077 rs1437122225 |
369 | G>S | No |
ClinGen gnomAD |
|
|
CA398019101 rs1295295020 |
371 | D>N | No |
ClinGen gnomAD |
|
|
CA8375094 rs148662282 |
372 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398019118 rs1318192174 |
372 | G>R | No |
ClinGen TOPMed |
|
|
rs746491727 CA8375095 |
373 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA287571589 rs747942476 |
374 | P>A | No |
ClinGen gnomAD |
|
|
rs1320410991 CA398019157 |
374 | P>L | No |
ClinGen gnomAD |
|
|
CA398019147 rs747942476 |
374 | P>S | No |
ClinGen gnomAD |
|
|
rs1231797654 CA398019168 |
375 | S>F | No |
ClinGen gnomAD |
|
|
rs1597463164 CA398019176 |
376 | P>S | No |
ClinGen Ensembl |
|
|
rs768325182 CA8375096 |
378 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377531916 CA8375097 |
381 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8375099 rs769855360 |
383 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs975993932 CA287571595 |
384 | T>A | No |
ClinGen Ensembl |
|
|
CA398019284 rs975993932 |
384 | T>P | No |
ClinGen Ensembl |
|
|
rs1192457980 CA398019333 |
388 | P>A | No |
ClinGen gnomAD |
|
|
rs1263509598 CA398019336 |
388 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1377059025 CA398019354 |
389 | P>L | No |
ClinGen TOPMed |
|
|
rs1597463214 CA398019349 |
389 | P>S | No |
ClinGen Ensembl |
|
|
rs370992708 CA8375101 |
390 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398019365 rs1412804313 |
391 | P>S | No |
ClinGen gnomAD |
|
|
CA398019364 rs1412804313 |
391 | P>T | No |
ClinGen gnomAD |
|
|
rs1451448716 CA398019384 |
392 | R>H | No |
ClinGen TOPMed |
|
|
rs767736552 CA8375102 |
401 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1342556709 CA398019544 |
404 | A>T | No |
ClinGen gnomAD |
|
|
CA8375105 rs200509665 |
404 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754339319 CA8375106 |
405 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757694556 CA8375107 |
407 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1597463277 CA398019929 |
408 | L>P | No |
ClinGen Ensembl |
|
|
CA398019943 rs1199161518 |
409 | D>V | No |
ClinGen TOPMed |
|
|
CA8375108 rs765677470 |
410 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1282833159 CA398019961 |
411 | L>F | No |
ClinGen gnomAD |
|
|
rs1283026327 CA398019987 |
412 | S>R | No |
ClinGen gnomAD |
|
|
rs1314583916 CA398019994 |
413 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750752026 CA8375109 |
416 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs376034940 CA398020026 COSM986280 |
417 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs376034940 CA8375111 |
417 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8375110 rs376034940 |
417 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398020031 rs1185432261 |
418 | M>L | No |
ClinGen gnomAD |
|
|
CA398020033 rs1236664075 |
418 | M>T | No |
ClinGen gnomAD |
|
|
rs903169317 CA287571660 |
429 | E>A | No |
ClinGen TOPMed |
|
|
rs1255912279 CA398020119 |
429 | E>K | No |
ClinGen gnomAD |
|
|
CA8375143 rs761853392 |
430 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA398020126 rs1333810948 |
430 | A>T | No |
ClinGen TOPMed |
|
|
rs1329281839 CA398020141 |
432 | Y>F | No |
ClinGen gnomAD |
|
|
rs765285474 CA8375144 |
434 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA398020177 rs1597463502 |
439 | L>V | No |
ClinGen Ensembl |
|
|
CA287571670 rs934650053 |
441 | D>N | No |
ClinGen TOPMed |
|
|
rs1166427394 CA398020199 |
442 | T>I | No |
ClinGen gnomAD |
|
|
rs1597463513 CA398020195 |
442 | T>P | No |
ClinGen Ensembl |
|
|
CA287571672 rs773670378 |
445 | L>M | No |
ClinGen gnomAD |
|
|
CA8375149 rs760006999 |
449 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA398020246 rs1444308249 |
450 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA398020249 rs1597463542 |
451 | D>N | No |
ClinGen Ensembl |
|
|
CA398020254 rs1386718252 |
451 | D>V | No |
ClinGen gnomAD |
|
|
CA398020261 rs1307275423 |
452 | T>M | No |
ClinGen gnomAD |
|
|
CA398020267 rs1331247989 |
453 | L>P | No |
ClinGen gnomAD |
|
|
CA398020273 rs752445774 |
454 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375151 rs752445774 |
454 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375154 rs755636448 |
455 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755636448 CA8375152 |
455 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375153 rs755636448 |
455 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398020275 rs1389731774 |
455 | P>S | No |
ClinGen TOPMed |
|
|
rs757084863 CA287571686 |
456 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757084863 CA8375155 |
456 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375156 rs778844802 |
457 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA398020285 rs1407865504 |
457 | D>V | No |
ClinGen TOPMed |
|
|
CA8375157 rs745624042 |
458 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1453447152 CA398020304 |
460 | T>A | No |
ClinGen gnomAD |
|
|
CA8375159 rs781371890 |
463 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA398020335 rs1262693420 |
464 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1597463612 CA398020332 |
464 | N>S | No |
ClinGen Ensembl |
|
|
CA398020363 rs1478282906 |
467 | R>* | No |
ClinGen gnomAD |
|
|
rs1416149762 CA398020387 |
469 | Q>L | No |
ClinGen gnomAD |
|
|
CA398020421 rs1597463646 |
473 | E>K | No |
ClinGen Ensembl |
|
|
CA8375163 rs763112475 |
474 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375162 rs562206017 |
474 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398020479 rs1308620394 |
475 | F>L | No |
ClinGen gnomAD |
|
|
rs771180941 CA8375184 |
481 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774984022 CA8375185 |
482 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398020548 rs774984022 |
482 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398020554 rs1254529014 |
482 | R>H | No |
ClinGen gnomAD |
|
|
CA398020553 rs1254529014 |
482 | R>L | No |
ClinGen gnomAD |
|
|
CA398020573 rs1483066461 |
484 | R>H | No |
ClinGen gnomAD |
|
|
CA398020567 rs1418432439 |
484 | R>S | No |
ClinGen TOPMed |
|
|
rs760186494 CA8375186 |
486 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs772710141 CA8375187 |
487 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs147556222 CA8375189 |
488 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178639511 CA398020608 |
488 | H>R | No |
ClinGen gnomAD |
|
|
rs77906249 CA287571762 |
490 | S>N | No |
ClinGen Ensembl |
|
|
rs763614509 CA8375190 |
490 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160692866 CA398020648 |
492 | L>F | No |
ClinGen gnomAD |
|
|
rs1439812276 CA398020645 |
492 | L>S | No |
ClinGen gnomAD |
|
|
CA398020655 rs1210115978 |
493 | C>G | No |
ClinGen TOPMed |
|
|
CA8375192 rs761208725 |
496 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1477654182 CA398020708 |
497 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398020729 rs1276879446 |
498 | A>V | No |
ClinGen TOPMed |
|
|
rs764789038 CA8375193 |
499 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750359902 CA8375194 |
501 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766320878 CA8375196 |
502 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754839800 CA8375198 |
503 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751268200 CA8375197 |
503 | P>S | No |
ClinGen ExAC |
|
|
rs751268200 CA398020788 |
503 | P>T | No |
ClinGen ExAC |
|
|
rs1234250538 CA398020836 |
505 | S>* | No |
ClinGen gnomAD |
|
|
rs1198532061 CA398020931 |
510 | Y>C | No |
ClinGen gnomAD |
|
|
rs201073755 CA287571773 |
510 | Y>N | No |
ClinGen 1000Genomes |
|
|
rs1007437843 CA287571779 |
512 | R>L | No |
ClinGen Ensembl |
|
|
CA8375199 rs777832647 |
512 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA398020956 rs1597463907 |
513 | N>T | No |
ClinGen Ensembl |
|
|
CA398020970 rs1459495228 |
514 | Q>R | No |
ClinGen gnomAD |
|
|
CA398020995 rs1264658376 |
516 | Y>C | No |
ClinGen gnomAD |
|
|
CA8375200 rs764496420 |
516 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398021009 rs1432230233 |
517 | Q>L | No |
ClinGen gnomAD |
|
|
CA398021017 rs1176409545 |
518 | E>* | No |
ClinGen gnomAD |
|
|
CA8375201 rs754271609 |
518 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375202 rs199645465 |
520 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373012308 CA398021064 |
522 | S>N | No |
ClinGen TOPMed |
|
|
CA398021075 rs1400883593 |
523 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA398021082 rs1448925176 |
524 | L>F | No |
ClinGen gnomAD |
|
|
CA8375203 rs745957482 |
525 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597464064 CA398021132 |
527 | T>P | No |
ClinGen Ensembl |
|
|
CA8375226 rs747489507 |
528 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398021145 rs1163940906 |
529 | V>M | No |
ClinGen TOPMed |
|
|
CA8375227 rs768904680 |
530 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA398021153 rs1487067337 |
530 | R>H | No |
ClinGen gnomAD |
|
|
CA398021176 rs1597464090 |
532 | S>P | No |
ClinGen Ensembl |
|
|
rs1263618805 CA398021189 |
533 | A>D | No |
ClinGen gnomAD |
|
|
rs769480435 CA8375230 |
536 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398021226 rs1165475074 |
537 | R>W | No |
ClinGen gnomAD |
|
|
CA398021233 rs1419311683 |
538 | L>M | No |
ClinGen gnomAD |
|
|
CA398021253 rs1347288106 |
540 | S>G | No |
ClinGen gnomAD |
|
|
CA398021265 rs1446223215 |
540 | S>R | No |
ClinGen gnomAD |
|
|
CA398021285 rs1283998273 |
542 | P>L | No |
ClinGen gnomAD |
|
|
rs1380458618 CA398021296 |
543 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA398021304 rs1248812003 |
544 | C>Y | No |
ClinGen gnomAD |
|
|
CA8375232 rs762475631 |
546 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8375234 rs142667369 |
546 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8375235 rs142667369 |
546 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286233579 CA398021335 |
547 | L>F | No |
ClinGen gnomAD |
|
|
CA8375238 rs760515669 |
548 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs367836441 CA8375237 |
548 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398021353 rs1597464165 |
549 | L>P | No |
ClinGen Ensembl |
|
|
CA398021388 rs750624132 |
552 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8375241 rs758564151 |
559 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287571844 rs866909786 |
559 | R>H | No |
ClinGen Ensembl |
|
|
CA8375242 rs780112596 |
560 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375243 rs751583631 |
561 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1455041862 CA398021476 |
562 | R>Q | No |
ClinGen gnomAD |
|
|
rs1373978799 CA398021489 |
563 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8375246 rs781525322 |
564 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264831583 CA398021491 |
564 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1217179513 CA398021531 |
568 | Q>K | No |
ClinGen gnomAD |
|
|
rs778399761 CA8375271 |
571 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8375272 rs745415178 |
572 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771433483 CA398022607 |
572 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375275 rs145817172 |
573 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768707221 CA8375277 |
574 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398022628 rs768707221 |
574 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768707221 CA8375276 |
574 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375278 rs761486813 |
577 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398022675 rs761486813 |
577 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287572323 rs908938131 |
579 | S>I | No |
ClinGen TOPMed |
|
|
rs766659619 CA398022712 |
579 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774391825 CA8375281 |
580 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774391825 CA8375280 |
580 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375282 rs759754769 |
580 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560208973 CA8375284 |
581 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764564244 CA8375285 |
582 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754270278 CA8375286 |
584 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1490899088 CA398022765 |
584 | A>S | No |
ClinGen gnomAD |
|
|
rs754270278 CA287572332 |
584 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398022780 rs1280630665 |
585 | Q>H | No |
ClinGen TOPMed |
|
|
CA398022776 rs1352501285 |
585 | Q>P | No |
ClinGen TOPMed |
|
|
rs1235093365 CA398022837 |
591 | V>F | No |
ClinGen TOPMed |
|
|
CA8375288 rs778649616 |
592 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8375310 rs746554509 |
596 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375309 rs746554509 |
596 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375312 rs747972645 |
597 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747972645 CA8375313 |
597 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375314 rs777489210 |
600 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8375315 rs749088765 |
600 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8375317 rs775649731 |
602 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384938083 CA398023002 |
602 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs587777166 RCV000087149 VAR_077835 CA228968 |
604 | R>C | found in a child with sporadic epilepsy; unknown pathological significance [UniProt] | No |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs143720339 COSM1387652 CA8375319 |
604 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA398023028 rs1394510179 |
605 | M>L | No |
ClinGen TOPMed |
|
|
rs1401821416 CA398023034 |
605 | M>T | No |
ClinGen TOPMed |
|
|
CA398023051 rs1204838822 |
606 | K>N | No |
ClinGen gnomAD |
|
|
CA398023042 rs1344799059 |
606 | K>Q | No |
ClinGen gnomAD |
|
|
rs1254623253 CA624870165 |
607 | Q>* | No |
ClinGen gnomAD |
|
|
CA8375320 rs762291992 |
608 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1249281650 CA398023091 |
610 | E>* | No |
ClinGen gnomAD |
|
|
rs1419300828 CA398023095 |
610 | E>V | No |
ClinGen gnomAD |
|
|
rs867579395 CA287572367 |
611 | L>M | No |
ClinGen gnomAD |
|
|
CA8375325 rs751205107 |
613 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1597466090 CA398023139 |
615 | T>P | No |
ClinGen Ensembl |
|
|
rs780637512 CA8375327 |
616 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs373534537 CA8375329 |
619 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8375330 rs145017019 |
619 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287572395 rs938978540 |
627 | P>S | No |
ClinGen TOPMed |
|
|
rs753718805 CA8375349 |
632 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs554415352 CA8375350 |
633 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567896801 CA8375351 |
634 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1487212983 CA398023428 |
634 | R>H | No |
ClinGen gnomAD |
|
|
CA8375352 rs755203679 |
638 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375353 rs781442560 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs375563358 CA8375355 |
640 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398023536 rs1555547448 |
643 | E>A | No |
ClinGen Ensembl |
|
|
rs555250782 CA8375356 |
645 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398023572 rs917738800 |
647 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777849960 CA8375357 |
647 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398023573 rs777849960 |
647 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287572403 rs917738800 |
647 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA398023575 rs1355739014 |
648 | R>G | No |
ClinGen TOPMed |
|
|
CA398023581 rs981112376 |
648 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8375362 rs201714597 |
648 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8375360 rs201714597 |
648 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs981112376 CA287572405 |
648 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1364628508 CA398023594 |
649 | G>A | No |
ClinGen gnomAD |
|
|
rs775161160 CA8375364 |
649 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775161160 CA8375363 |
649 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398023588 rs775161160 |
649 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375366 rs753341289 |
650 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398023598 rs753341289 |
650 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375369 rs367882089 |
651 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA287572416 COSM3796267 rs867056869 |
655 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756290079 CA8375373 |
656 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA398023712 rs1242591415 |
656 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1165587732 CA398023722 |
657 | P>T | No |
ClinGen gnomAD |
|
|
rs774959863 CA8375377 |
658 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375378 rs774959863 |
658 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375379 rs772423269 |
660 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336704004 CA398023804 |
661 | P>R | No |
ClinGen gnomAD |
|
|
rs1384211574 CA398023820 |
662 | L>V | No |
ClinGen gnomAD |
|
|
rs996540630 CA287572427 |
669 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776164783 CA8375383 |
674 | T>I | No |
ClinGen ExAC |
|
|
CA398024075 rs1468072726 |
677 | K>R | No |
ClinGen gnomAD |
|
|
rs750455548 CA8375414 |
680 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA8375416 rs115722025 |
681 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8375415 rs202178987 |
681 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375418 rs768956864 |
688 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398024324 COSM986283 rs1337793938 |
690 | R>H | endometrium breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs565057036 CA8375420 |
691 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8375419 rs565057036 |
691 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8375422 rs772831168 |
692 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1270007788 CA398024370 |
694 | Q>E | No |
ClinGen gnomAD |
|
|
CA287572477 rs925940785 |
695 | A>V | No |
ClinGen Ensembl |
|
|
CA287572478 rs934765939 |
699 | P>L | No |
ClinGen gnomAD |
|
|
CA398024480 rs1597466579 |
700 | D>E | No |
ClinGen Ensembl |
|
|
CA398024495 rs1360586882 |
701 | P>Q | No |
ClinGen TOPMed |
|
|
CA8375425 rs200416299 |
704 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1331894340 CA398024529 |
704 | P>L | No |
ClinGen TOPMed |
|
|
CA287572482 rs750498025 |
705 | P>S | No |
ClinGen Ensembl |
|
|
rs1422329513 CA398024558 |
706 | T>I | No |
ClinGen gnomAD |
|
|
CA398024551 rs1597466606 |
706 | T>P | No |
ClinGen Ensembl |
|
|
CA8375426 rs774110070 |
708 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1649407 rs759419450 CA8375427 |
708 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM562712 rs759419450 CA398024592 |
708 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA287572486 rs267605104 |
710 | S>F | No |
ClinGen Ensembl |
|
|
rs1325725132 CA398024684 |
715 | H>R | No |
ClinGen gnomAD |
|
|
CA8375428 rs767354061 |
715 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA287572490 rs945348402 |
716 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs199891313 CA8375429 |
718 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398024724 rs199891313 |
718 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8375430 rs762185999 |
718 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547480017 CA8375431 |
720 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750554328 CA8375432 COSM986284 |
722 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA398024948 rs1461266356 |
730 | S>* | No |
ClinGen gnomAD |
|
|
CA8375445 rs548786737 |
732 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1243282032 CA398024990 |
733 | Q>* | No |
ClinGen gnomAD |
|
|
rs1023521769 CA287572526 |
734 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs371565392 CA8375448 |
736 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763104350 CA8375450 |
742 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs773258836 CA8375449 |
742 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773258836 CA398025561 |
742 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375452 rs201311723 |
743 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766298801 CA8375451 |
743 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1709791 rs1033497306 CA287572534 |
744 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1337465567 CA398025570 |
744 | P>S | No |
ClinGen gnomAD |
|
|
rs1377230947 CA398025574 |
745 | L>F | No |
ClinGen TOPMed |
|
|
CA398025577 rs1385134519 |
745 | L>P | No |
ClinGen gnomAD |
|
|
CA287572536 rs979007233 |
746 | P>S | No |
ClinGen gnomAD |
|
|
CA398025580 rs979007233 |
746 | P>T | No |
ClinGen gnomAD |
|
|
CA8375454 rs202083675 |
747 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375455 rs767983703 |
747 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs868383151 CA287572543 |
749 | P>L | No |
ClinGen Ensembl |
|
|
CA287572540 rs374099924 |
749 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs777499580 CA8375459 |
753 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777499580 CA8375458 |
753 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420507871 CA398025634 |
754 | E>D | No |
ClinGen TOPMed |
|
|
CA398025644 rs1263180075 |
756 | C>R | No |
ClinGen gnomAD |
|
|
CA287572573 rs563306063 |
758 | C>G | No |
ClinGen TOPMed |
|
|
CA398025675 rs1362619626 |
758 | C>Y | No |
ClinGen TOPMed |
|
|
rs780905049 CA8375487 |
759 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375488 rs747949368 |
761 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287572576 rs575505122 |
762 | L>P | No |
ClinGen Ensembl |
|
|
rs149290543 CA8375489 |
763 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398025718 rs1161952926 |
765 | E>A | No |
ClinGen gnomAD |
|
|
CA8375493 rs775545004 |
768 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398025741 rs1382227604 |
769 | P>S | No |
ClinGen gnomAD |
|
|
CA287572583 rs867531266 |
770 | A>T | No |
ClinGen Ensembl |
|
|
CA8375495 rs144539424 |
771 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754196985 CA8375496 |
772 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375499 rs750037908 |
774 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8375498 rs765002228 |
774 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201103318 CA8375502 |
775 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375505 rs747920880 |
779 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs781150852 CA8375504 |
779 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746156952 CA8375508 |
781 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779116620 CA8375507 |
781 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343847865 CA398025818 |
782 | A>V | No |
ClinGen gnomAD |
|
|
CA8375511 rs775598168 |
784 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401828336 CA398025829 |
784 | K>R | No |
ClinGen gnomAD |
|
|
CA287572597 rs374294639 |
786 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA287572599 rs199721383 |
787 | H>R | No |
ClinGen gnomAD |
|
|
rs1055253402 CA287572602 |
788 | K>M | No |
ClinGen TOPMed |
|
|
rs76729434 CA287572605 |
789 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1377498274 CA398025865 |
790 | P>S | No |
ClinGen TOPMed |
|
|
CA8375525 rs756045446 |
792 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1490260052 CA398025906 |
794 | L>P | No |
ClinGen TOPMed |
|
|
rs923462849 CA287572877 |
795 | K>E | No |
ClinGen gnomAD |
|
|
CA398025920 rs1488902201 |
797 | L>I | No |
ClinGen gnomAD |
|
|
rs1176397439 CA398025939 |
800 | A>S | No |
ClinGen gnomAD |
|
|
CA8375530 rs370550327 |
802 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370550327 CA398025951 |
802 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8375531 rs768722333 |
803 | A>D | No |
ClinGen ExAC |
|
|
rs1279498244 CA398025965 |
804 | Q>R | No |
ClinGen TOPMed |
|
|
CA398025974 rs1234674531 |
806 | V>M | No |
ClinGen TOPMed |
|
|
rs748756506 CA8375533 |
809 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA398026004 rs1441116523 |
810 | T>I | No |
ClinGen gnomAD |
|
|
CA287572887 rs888001312 |
813 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200425815 CA8375534 |
813 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8375537 rs763375022 |
814 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8375536 rs763375022 |
814 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287572890 rs534121147 |
814 | E>K | No |
ClinGen gnomAD |
|
|
CA8375539 rs758976504 |
815 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs897912769 CA287572895 |
817 | R>K | No |
ClinGen Ensembl |
|
|
rs1480762129 CA398026052 |
818 | H>Y | No |
ClinGen TOPMed |
|
|
CA8375540 rs767125499 |
819 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA8375541 rs752135781 |
820 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA398026066 rs1431506674 COSM1387655 |
820 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1431506674 CA398026068 |
820 | R>L | No |
ClinGen TOPMed |
|
|
CA398026080 rs1489946639 |
822 | N>S | No |
ClinGen gnomAD |
|
|
CA287572899 rs1024597768 |
824 | R>S | No |
ClinGen gnomAD |
|
|
CA398026097 rs1024597768 |
824 | R>S | No |
ClinGen gnomAD |
|
|
CA8375544 rs753665973 |
827 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA287572904 rs971235068 |
829 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs145328839 CA8375545 |
830 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747188193 CA8375547 |
831 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8375546 VAR_054217 rs3744647 |
831 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA398026141 rs1331599627 |
832 | S>F | No |
ClinGen gnomAD |
|
|
CA287572910 rs929994723 |
834 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA398026162 rs1338874852 |
836 | P>H | No |
ClinGen gnomAD |
|
|
CA8375554 rs778382312 |
838 | A>S | No |
ClinGen ExAC |
|
|
rs749686170 CA8375555 |
838 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8375558 RCV001704775 rs552154823 |
840 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8375556 rs552154823 |
840 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with O94989
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| negative regulation of synapse maturation | Any process that stops, prevents or reduces the frequency, rate or extent of synapse maturation. |
| positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| regulation of catalytic activity | Any process that modulates the activity of an enzyme. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| retina vasculature morphogenesis in camera-type eye | The process in which the vasculature of the retina is generated and organized. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5YM69 | ARHGEF35 | Rho guanine nucleotide exchange factor 35 | Homo sapiens (Human) | PR |
| Q8IW93 | ARHGEF19 | Rho guanine nucleotide exchange factor 19 | Homo sapiens (Human) | SS |
| Q5VV41 | ARHGEF16 | Rho guanine nucleotide exchange factor 16 | Homo sapiens (Human) | PR |
| Q12774 | ARHGEF5 | Rho guanine nucleotide exchange factor 5 | Homo sapiens (Human) | EV |
| Q8N5V2 | NGEF | Ephexin-1 | Homo sapiens (Human) | EV |
| Q96DR7 | ARHGEF26 | Rho guanine nucleotide exchange factor 26 | Homo sapiens (Human) | SS |
| E9Q7D5 | Arhgef5 | Rho guanine nucleotide exchange factor 5 | Mus musculus (Mouse) | SS |
| Q8CHT1 | Ngef | Ephexin-1 | Mus musculus (Mouse) | SS |
| Q3U5C8 | Arhgef16 | Rho guanine nucleotide exchange factor 16 | Mus musculus (Mouse) | PR |
| Q8BWA8 | Arhgef19 | Rho guanine nucleotide exchange factor 19 | Mus musculus (Mouse) | PR |
| Q5FWH6 | Arhgef15 | Rho guanine nucleotide exchange factor 15 | Mus musculus (Mouse) | SS |
| Q5BKC9 | Ngef | Ephexin-1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAQSLPAAT | PPTQKPPRII | RPRPPSRSRA | AQSPGPPHNG | SSPQELPRNS | NDAPTPMCTP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IFWEPPAASL | KPPALLPPSA | SRASLDSQTS | PDSPSSTPTP | SPVSRRSASP | EPAPRSPVPP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKPSGSPCTP | LLPMAGVLAQ | NGSASAPGTV | RRLAGRFEGG | AEGRAQDADA | PEPGLQARAD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VNGEREAPLT | GSGSQENGAP | DAGLACPPCC | PCVCHTTRPG | LELRWVPVGG | YEEVPRVPRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASPLRTSRSR | PHPPSIGHPA | VVLTSYRSTA | ERKLLPLLKP | PKPTRVRQDA | TIFGDPPQPD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LDLLSEDGIQ | TGDSPDEAPQ | NTPPATVEGR | EEEGLEVLKE | QNWELPLQDE | PLYQTYRAAV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSEELWGVGE | DGSPSPANAG | DAPTFPRPPG | PRNTLWQELP | AVQASGLLDT | LSPQERRMQE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLFEVVTSEA | SYLRSLRLLT | DTFVLSQALR | DTLTPRDHHT | LFSNVQRVQG | VSERFLATLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SRVRSSPHIS | DLCDVVHAHA | VGPFSVYVDY | VRNQQYQEET | YSRLMDTNVR | FSAELRRLQS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LPKCERLPLP | SFLLLPFQRI | TRLRMLLQNI | LRQTEEGSSR | QENAQKALGA | VSKIIERCSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EVGRMKQTEE | LIRLTQRLRF | HKVKALPLVS | WSRRLEFQGE | LTELGCRRGG | VLFASRPRFT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PLCLLLFSDL | LLITQPKSGQ | RLQVLDYAHR | SLVQAQQVPD | PSGPPTFRLS | LLSNHQGRPT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HRLLQASSLS | DMQRWLGAFP | TPGPLPCSPD | TIYEDCDCSQ | ELCSESSAPA | KTEGRSLESR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AAPKHLHKTP | EGWLKGLPGA | FPAQLVCEVT | GEHERRRHLR | QNQRLLEAVG | SSSGTPNAPP |
| P |