Q15437
PR
Gene name |
SEC23B |
Protein name |
Protein transport protein Sec23B |
Names |
hSec23B, SEC23-related protein B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10483 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q15437
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15437-F1 | Predicted | AlphaFoldDB |
637 variants for Q15437
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_062294 RCV000688744 CA114846 rs121918222 RCV000153924 RCV000001282 |
14 | R>W | Congenital dyserythropoietic anemia, type II CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000153925 CA234903 RCV001335411 RCV001082004 rs6045440 RCV000490449 |
25 | P>H | Congenital dyserythropoietic anemia, type II Cowden syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001812393 RCV002542973 CA9777917 rs759146033 |
28 | R>W | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001141441 rs2059977778 |
68 | A>T | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2059977897 RCV001294294 |
71 | N>H | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9777969 rs370537015 RCV001141442 |
79 | R>Q | Congenital dyserythropoietic anemia, type II Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9777995 RCV002519999 RCV000359732 rs754320262 |
101 | I>V | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000001281 RCV000081407 CA114843 RCV000688348 VAR_062296 rs121918221 |
109 | E>K | Congenital dyserythropoietic anemia, type II CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372784283 RCV001351710 CA9778005 |
120 | V>M | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs773290230 CA9778027 RCV001141443 RCV003142077 |
130 | I>T | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140466726 CA9778032 RCV001045553 RCV002553124 |
145 | Q>R | Congenital dyserythropoietic anemia, type II Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2060116077 RCV001196801 |
146 | A>T | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000210063 RCV000081408 COSM1664078 CA148510 RCV000560193 rs36023150 RCV001811382 RCV000269836 VAR_076424 |
164 | V>L | Congenital dyserythropoietic anemia, type II kidney Cowden syndrome 7 CWS7; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001071842 RCV001141445 CA246116 RCV000178916 rs201160833 |
190 | R>Q | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555788144 RCV000540391 |
192 | T>* | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2060118203 RCV001331574 |
192 | T>P | Cowden syndrome 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002496226 RCV000153926 CA114855 rs121918226 RCV000001286 |
217 | R>* | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001858939 RCV003142078 rs748683327 RCV001143286 CA9778114 |
236 | H>Q | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002559272 CA9778116 RCV001199101 VAR_062297 rs761034212 |
239 | D>G | Congenital dyserythropoietic anemia, type II CDAN2; unknown pathological significance; the mutant protein is expressed as the wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001619877 RCV001516029 CA9778120 rs146917730 RCV001143287 |
257 | T>I | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000329540 CA247249 RCV001509924 rs534770840 RCV000179916 |
258 | Q>R | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001092534 rs121918224 RCV001384733 CA114851 RCV000001284 |
264 | R>* | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001143288 COSM1024905 CA9778123 rs148239360 |
264 | R>Q | Congenital dyserythropoietic anemia, type II Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000703264 rs1568606490 |
272 | I>missing | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747388303 RCV001342153 |
274 | V>I | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003141852 CA408360134 RCV000821067 rs1363436677 |
297 | T>I | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003137483 RCV000001285 CA114853 RCV002512638 rs121918225 |
324 | R>* | Congenital dyserythropoietic anemia, type II Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000794676 RCV001772048 rs143417821 CA9778176 |
329 | A>S | Congenital dyserythropoietic anemia, type II Cowden syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_062300 | 348 | D>A | CDAN2 [UniProt] | Yes | UniProt |
|
RCV001050924 rs2060144762 |
348 | D>G | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000825546 rs1600244935 |
360 | L>missing | Congenital dyserythropoietic anemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000945938 rs142461689 CA9778252 RCV001509049 RCV000275527 |
400 | F>L | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1403456625 CA408361779 RCV000779340 RCV001509050 |
401 | R>* | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001573570 CA180422 rs41309927 RCV000153927 RCV000295373 RCV001518565 VAR_062303 |
426 | V>I | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs17807673 VAR_034482 RCV000081399 RCV001522156 CA148496 RCV001682777 RCV000317780 |
433 | P>L | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_086961 | 436 | S>L | CDAN2; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001509052 CA9778320 rs147410912 RCV000638851 |
439 | E>D | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000378050 rs2273526 RCV001518566 CA148500 RCV001807020 RCV000081401 CA9778364 VAR_020318 RCV001682778 |
489 | H>Q | Congenital dyserythropoietic anemia, type II Cowden syndrome 7 [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
CA408363858 RCV001327523 rs757801115 |
492 | T>I | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000283317 CA9778368 RCV002520001 rs768018657 |
495 | R>C | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001138957 RCV000877868 RCV001812729 COSM267393 CA9778369 rs141588462 RCV000250114 |
495 | R>H | Congenital dyserythropoietic anemia, type II large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850108 rs727504145 CA234906 VAR_062305 RCV000779341 RCV000153928 |
497 | R>C | Congenital dyserythropoietic anemia, type II CDAN2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002269303 CA408363915 RCV000691489 rs1568617456 |
503 | R>* | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001843475 CA222937 VAR_062306 RCV000081403 rs398124225 |
524 | A>V | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs121918223 VAR_062307 RCV000001283 CA114849 COSM1024912 |
530 | R>W | Congenital dyserythropoietic anemia, type II endometrium Variant assessed as Somatic; 4.619e-05 impact. CDAN2 [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002227230 rs143456757 CA9778415 RCV000945878 |
532 | G>A | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001138959 CA9778420 rs535355543 |
536 | A>E | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002514962 RCV001849321 rs199939108 CA234909 RCV000153929 |
550 | R>* | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000421047 rs111572459 RCV000247103 RCV001141558 CA9778435 RCV001078619 |
550 | R>Q | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_086962 | 554 | R>del | CDAN2 [UniProt] | Yes | UniProt |
|
CA352452 rs752366963 RCV000210069 VAR_076425 |
594 | V>G | Cowden syndrome 7 CWS7; aberrant aggregation; causes mislocalization of the protein in the cytoplasm; reduces interaction with SAR1A; confers endoplasmic reticulum (ER) stress-mediated cell growth advantage [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_062308 | 603 | S>L | CDAN2 [UniProt] | Yes | UniProt |
|
rs752037101 CA9778573 RCV001241508 |
670 | R>C | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs202187007 RCV000946264 RCV001141560 CA9778577 CA408366385 |
677 | M>I | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9778590 VAR_062309 rs201270568 |
701 | R>C | CDAN2 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000799127 CA9778598 rs752664090 |
710 | T>M | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777442287 CA9778600 RCV001141561 |
715 | S>G | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000779342 rs1334741748 RCV001873183 |
717 | A>missing | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375734554 CA9778646 RCV000407724 |
743 | P>S | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003811 rs1600288964 CA408367218 |
746 | T>N | Congenital dyserythropoietic anemia, type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9777901 rs376365322 |
2 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs190721221 COSM1024904 CA9777902 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. NS large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 4 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9777904 rs752214160 |
5 | L>R | No |
ClinGen ExAC |
|
|
CA312389131 rs369908885 |
6 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9777905 rs758435412 |
6 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9777906 rs369908885 |
6 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139616572 CA9777907 |
9 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757114358 CA9777908 |
12 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1234117750 CA408355322 |
12 | E>Q | No |
ClinGen gnomAD |
|
|
CA312389137 rs372080875 |
14 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408355342 rs749449660 |
15 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408355340 rs1287816373 |
15 | D>H | No |
ClinGen TOPMed |
|
|
rs749449660 CA9777909 |
15 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768881779 CA9777910 |
18 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_062295 rs905074313 CA312389151 |
18 | R>H | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA408355416 rs748200634 |
23 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9777912 rs748200634 |
23 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9777913 rs772572358 |
24 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312389179 rs6045440 |
25 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761082788 CA9777914 |
26 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9777916 rs139419360 |
27 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158063809 CA408355473 |
27 | S>T | No |
ClinGen gnomAD |
|
|
rs200836567 CA9777918 |
28 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA312389189 rs940982122 |
30 | E>A | No |
ClinGen gnomAD |
|
|
rs145142114 CA9777919 |
30 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222492834 CA408355531 |
32 | T>P | No |
ClinGen gnomAD |
|
|
CA9777922 rs751530265 |
34 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA408355559 rs1396671277 |
34 | M>L | No |
ClinGen TOPMed |
|
|
rs147576961 RCV001812362 CA9777923 |
35 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 37 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408355609 rs1451709270 |
37 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 38 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9777926 rs750181418 |
38 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755167227 CA9777927 |
39 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779123831 CA9777928 |
39 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9777929 rs376192392 |
40 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408355663 rs1476002193 |
41 | L>P | No |
ClinGen gnomAD |
|
|
rs1393254579 CA408355679 |
42 | L>H | No |
ClinGen gnomAD |
|
|
rs1330309084 CA408355699 |
44 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA312389217 rs142919912 |
48 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA408355764 rs1350420225 COSM1410603 |
48 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9777933 rs151126375 |
49 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356454492 CA408355793 |
50 | D>E | No |
ClinGen gnomAD |
|
|
rs6045441 CA312389220 |
51 | L>V | No |
ClinGen TOPMed |
|
|
CA408355815 rs771385487 |
53 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771385487 CA9777934 |
53 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572723960 CA9777935 |
54 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA312389232 rs897997163 |
54 | V>I | No |
ClinGen TOPMed |
|
|
CA408355827 rs769340008 |
55 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769340008 CA9777937 |
55 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9777939 rs762610669 |
56 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1389958627 CA408355831 |
56 | Y>H | No |
ClinGen gnomAD |
|
|
CA9777940 rs6045442 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751589966 CA9777941 |
62 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6112001 CA312389264 |
63 | R>K | No |
ClinGen Ensembl |
|
|
CA9777942 rs761863089 |
64 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761863089 CA408355882 |
64 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312389277 rs796691231 |
66 | C>R | No |
ClinGen Ensembl |
|
|
CA312389281 rs771775082 |
66 | C>S | No |
ClinGen gnomAD |
|
|
COSM400594 rs771775082 CA408355895 |
66 | C>Y | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408355912 rs1477938625 |
68 | A>V | No |
ClinGen gnomAD |
|
|
CA408355913 rs1169161177 |
69 | V>I | No |
ClinGen gnomAD |
|
|
CA9777943 rs767430016 |
70 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9777944 rs750189716 |
71 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9777945 rs755933445 |
72 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755933445 CA9777946 |
72 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs752891023 CA9777947 |
73 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312389294 rs141084862 |
73 | L>R | No |
ClinGen ESP TOPMed |
|
|
CA9777948 rs200152499 |
74 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430183991 CA408356075 |
75 | Q>R | No |
ClinGen gnomAD |
|
|
rs758640105 CA9777967 |
78 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1600225581 CA408356095 |
78 | Y>H | No |
ClinGen Ensembl |
|
|
rs150263014 CA9777968 |
79 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408356100 rs150263014 |
79 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs895204283 CA312389756 |
80 | A>T | No |
ClinGen TOPMed |
|
|
CA408356128 rs1413836890 |
83 | W>* | No |
ClinGen TOPMed |
|
|
rs1281758933 CA408356136 |
84 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9777972 rs761424294 |
86 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746364899 CA9777973 |
89 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1600225671 CA408356177 |
90 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 93 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568598962 CA408356921 |
94 | F>I | No |
ClinGen Ensembl |
|
|
CA408356952 rs1447370531 |
95 | P>S | No |
ClinGen TOPMed |
|
|
rs756668484 CA9777993 |
96 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312391510 rs878913051 |
96 | P>L | No |
ClinGen gnomAD |
|
|
CA408357005 rs1325299734 |
97 | A>P | No |
ClinGen gnomAD |
|
|
rs1397200464 CA408357017 |
97 | A>V | No |
ClinGen gnomAD |
|
|
rs1334908047 CA408357098 |
101 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1361567795 CA408357094 |
101 | I>T | No |
ClinGen TOPMed |
|
|
CA408357125 rs1294787270 |
103 | E>D | No |
ClinGen gnomAD |
|
|
rs1233651537 CA408357124 |
103 | E>V | No |
ClinGen gnomAD |
|
|
rs543939955 CA9777996 |
104 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs199815470 CA9777998 |
106 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763874413 CA312391537 |
108 | A>V | No |
ClinGen Ensembl |
|
|
rs1482963686 CA408357231 |
110 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs770862419 CA9778001 |
113 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9778002 rs776548475 |
117 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1420383117 CA408357296 |
117 | I>V | No |
ClinGen gnomAD |
|
|
rs759388396 CA9778003 |
118 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA312391567 rs142369282 |
119 | Y>* | No |
ClinGen 1000Genomes TOPMed |
|
|
CA408357318 rs1463490876 |
120 | V>A | No |
ClinGen gnomAD |
|
|
CA408357327 rs1296431635 |
122 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775380378 CA9778023 |
123 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775380378 CA408357776 |
123 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408357778 rs1365121503 |
123 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA408357777 rs1365121503 |
123 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs908493085 CA312395451 |
124 | G>S | No |
ClinGen TOPMed |
|
|
CA408357782 rs1235574345 |
124 | G>V | No |
ClinGen gnomAD |
|
|
CA408357792 rs1346111371 |
126 | Q>* | No |
ClinGen gnomAD |
|
|
rs1209816521 CA408357795 |
126 | Q>R | No |
ClinGen gnomAD |
|
|
rs762600147 CA9778024 |
127 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408357800 rs1220801923 |
127 | S>P | No |
ClinGen TOPMed |
|
|
rs942409801 CA312395458 |
128 | P>R | No |
ClinGen TOPMed |
|
|
CA9778025 rs772402564 |
128 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA312395470 rs973894499 |
133 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA408357841 rs1393165617 |
134 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145716758 CA9778028 |
137 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766531267 CA9778029 |
138 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9778030 rs753928958 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA312395481 rs767501379 |
142 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1319309955 CA408357923 |
142 | D>N | No |
ClinGen gnomAD |
|
|
CA9778031 rs760141655 |
143 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1219069192 CA408357975 |
146 | A>V | No |
ClinGen gnomAD |
|
|
rs561909054 CA9778034 |
147 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763867169 CA9778035 |
148 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9778036 rs371842147 |
148 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756801146 CA9778037 |
149 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1215607394 CA408358028 |
150 | S>F | No |
ClinGen gnomAD |
|
|
CA408358046 rs1239446916 |
152 | Q>E | No |
ClinGen TOPMed |
|
|
CA408358055 rs1177316380 |
152 | Q>R | No |
ClinGen TOPMed |
|
|
CA9778039 rs745336573 |
153 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9778040 rs756061907 |
154 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA408358149 rs1480103183 |
157 | L>R | No |
ClinGen TOPMed |
|
|
rs919655089 CA312395549 |
158 | L>F | No |
ClinGen TOPMed |
|
|
CA312395546 rs919655089 |
158 | L>I | No |
ClinGen TOPMed |
|
|
rs113636129 CA312395552 |
158 | L>P | No |
ClinGen Ensembl |
|
|
CA9778042 rs779791203 |
159 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279467243 CA408358190 |
160 | P>L | No |
ClinGen TOPMed |
|
|
rs749162462 CA9778043 |
161 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1348659089 CA408358215 |
162 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1323293478 CA408358211 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA312395554 rs6112008 |
163 | L>M | No |
ClinGen Ensembl |
|
|
rs36023150 CA408358240 |
164 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773519637 CA9778045 |
165 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs747265922 CA9778046 |
167 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049363596 CA312395568 |
169 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1335726739 CA408358336 |
170 | G>E | No |
ClinGen gnomAD |
|
|
CA408358375 rs1415743513 |
172 | M>I | No |
ClinGen TOPMed |
|
|
rs776862716 CA9778048 |
174 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1172218524 CA408358413 |
174 | Q>R | No |
ClinGen TOPMed |
|
|
rs759620158 CA9778049 |
177 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9778050 rs765842157 |
180 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312395586 rs765328235 |
181 | E>Q | No |
ClinGen gnomAD |
|
|
CA408358558 rs1381549599 |
182 | G>R | No |
ClinGen TOPMed |
|
|
CA408358582 rs1159176197 |
183 | I>M | No |
ClinGen TOPMed |
|
|
rs775848933 CA9778051 |
184 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA408358593 rs1418194987 |
185 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541860697 CA312395592 |
190 | R>* | No |
ClinGen gnomAD |
|
| rs1412390184 | 190 | R>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541860697 CA408358657 |
190 | R>G | No |
ClinGen gnomAD |
|
|
CA408358671 rs1226712368 |
191 | G>E | No |
ClinGen gnomAD |
|
|
rs1288262814 CA408358698 |
194 | D>A | No |
ClinGen gnomAD |
|
|
CA408358719 rs1307799159 |
197 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9778054 rs756929894 |
198 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA312395605 rs960828121 |
199 | Q>E | No |
ClinGen TOPMed |
|
|
rs1208510790 CA408358736 |
200 | I>V | No |
ClinGen TOPMed |
|
|
CA9778056 rs767102106 |
201 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408358761 rs774714969 |
202 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778079 rs774714969 |
202 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78552986 CA312395747 |
203 | M>I | No |
ClinGen Ensembl |
|
|
CA408358770 rs1426659438 |
203 | M>L | No |
ClinGen TOPMed |
|
|
rs1600241278 CA408358779 |
204 | L>W | No |
ClinGen Ensembl |
|
|
rs762101557 CA9778080 |
205 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326108346 CA408358798 |
207 | T>I | No |
ClinGen Ensembl |
|
|
CA408358823 rs1271462556 |
211 | M>I | No |
ClinGen TOPMed |
|
|
rs760268086 CA9778083 |
211 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9778082 rs750053006 |
211 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753340097 CA9778085 |
213 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201418257 CA9778086 |
214 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1171182181 CA408358844 |
214 | Q>H | No |
ClinGen gnomAD |
|
|
CA9778087 rs778925979 |
214 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs752603613 CA9778088 |
215 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1251073127 CA408358856 |
216 | A>V | No |
ClinGen TOPMed |
|
|
CA9778090 rs746057154 |
217 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1304819194 CA408358886 |
220 | Q>H | No |
ClinGen TOPMed |
|
|
CA408358892 rs1366798437 |
221 | P>S | No |
ClinGen Ensembl |
|
|
CA9778092 rs189559930 |
229 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1600241467 CA408358992 |
230 | R>K | No |
ClinGen Ensembl |
|
|
rs866352549 CA312396016 |
231 | F>S | No |
ClinGen Ensembl |
|
|
CA408359617 rs1375307380 |
231 | F>V | No |
ClinGen TOPMed |
|
|
CA408359646 rs1208525981 |
233 | Q>L | No |
ClinGen gnomAD |
|
|
CA408359654 rs1267246506 |
234 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779433413 CA9778112 |
235 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA408359662 rs779433413 COSM213542 |
235 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1184773403 CA408359677 |
236 | H>L | No |
ClinGen gnomAD |
|
|
rs1165758203 CA408359699 |
238 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761034212 CA408359712 |
239 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456355944 CA408359719 |
240 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746666686 | 246 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA312396026 rs920703053 |
248 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000081410 CA222944 rs398124227 |
248 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA312396029 rs1031857703 |
249 | L>V | No |
ClinGen TOPMed |
|
|
CA408359829 rs1349511946 |
250 | Q>* | No |
ClinGen gnomAD |
|
|
rs1294618817 CA408359855 |
252 | D>E | No |
ClinGen gnomAD |
|
|
rs776332647 CA9778118 |
253 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776332647 CA408359857 |
253 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408359863 rs1243393734 |
254 | W>R | No |
ClinGen gnomAD |
|
|
CA9778121 rs763007439 |
260 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9778122 rs764068428 |
262 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA408359928 rs148239360 |
264 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754057624 CA9778126 |
267 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754057624 CA9778125 |
267 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312396056 rs754057624 |
267 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408359951 rs1363351725 |
269 | A>P | No |
ClinGen TOPMed |
|
|
rs748164368 CA408359967 |
271 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748164368 CA408359966 |
271 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9778127 rs778981938 |
271 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs748164368 CA9778128 |
271 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778132 rs370668586 |
274 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747388303 CA9778131 |
274 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1235719778 CA408359994 |
276 | L>W | No |
ClinGen gnomAD |
|
|
rs775281230 CA9778153 |
280 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA312396249 rs866724648 |
282 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9778156 rs543300931 |
283 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761829631 CA9778157 |
284 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778158 rs771842185 |
284 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408360055 rs771842185 |
284 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9778159 rs773061065 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760457633 CA408360103 |
291 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 291 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA312396275 rs375028100 |
293 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA9778162 rs188884926 |
295 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs188884926 CA312396276 |
295 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs765501823 CA9778161 |
295 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs944667865 CA312396278 |
300 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9778164 rs764267057 |
305 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1027120587 CA312396284 |
306 | D>E | No |
ClinGen TOPMed |
|
|
rs763130110 CA9778165 |
306 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437726251 CA408360197 |
307 | E>G | No |
ClinGen gnomAD |
|
|
CA408360205 rs1365989788 |
308 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs538850117 CA312396288 |
311 | P>L | No |
ClinGen 1000Genomes |
|
|
rs781486591 CA9778167 |
312 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1681554 CA312396291 rs111758941 |
313 | R>C | Variant assessed as Somatic; impact. skin haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
VAR_062298 rs750888081 COSM3404958 CA408360236 |
313 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750888081 CA9778168 |
313 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778169 rs756538488 |
315 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181713682 CA408360266 |
317 | D>E | No |
ClinGen TOPMed |
|
|
CA312396298 VAR_062299 rs953079477 |
318 | I>T | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs558239906 CA9778171 COSM1024906 |
319 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs139458425 CA312396303 |
319 | E>K | No |
ClinGen ESP |
|
|
CA408360288 rs1335421454 |
321 | D>N | No |
ClinGen gnomAD |
|
|
rs1345130846 CA408360293 |
321 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1223609956 CA408360300 |
322 | N>S | No |
ClinGen gnomAD |
|
|
CA9778172 rs768142306 |
323 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747541378 CA408360311 |
324 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs747541378 CA9778173 |
324 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs772110499 CA9778174 |
325 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1471373100 CA408360319 |
326 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9778175 rs576460133 |
327 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408360340 rs1417902027 |
328 | K>M | No |
ClinGen gnomAD |
|
|
rs143417821 CA9778177 |
329 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9778178 rs776372366 |
330 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751664640 CA9778181 |
331 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408360373 rs1428191642 |
332 | H>Y | No |
ClinGen gnomAD |
|
|
rs767678738 CA9778200 |
333 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312396777 rs371376726 |
335 | M>V | No |
ClinGen Ensembl |
|
|
rs368960604 CA9778201 |
339 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA408360422 COSM1615372 rs368960604 |
339 | R>G | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1450370467 COSM1024907 CA408360425 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs761274385 CA9778202 |
342 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766922478 CA9778203 |
343 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA312396822 rs892002905 |
344 | G>R | No |
ClinGen Ensembl |
|
|
rs140387877 CA9778206 |
345 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408360472 rs1339849408 |
347 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764987635 CA9778207 |
347 | I>T | No |
ClinGen ExAC |
|
|
CA408360471 rs1339849408 |
347 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1204168449 CA408360485 |
349 | I>V | No |
ClinGen gnomAD |
|
|
CA312396832 rs951912875 |
351 | A>G | No |
ClinGen TOPMed |
|
|
COSM1660281 CA9778208 rs150042408 |
351 | A>P | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA408360499 rs150042408 |
351 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408360518 rs1443728396 |
354 | L>V | No |
ClinGen gnomAD |
|
|
CA9778210 rs777288695 |
355 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779578318 CA312396849 |
358 | G>A | No |
ClinGen gnomAD |
|
|
CA408360565 rs1568607808 |
361 | E>A | No |
ClinGen Ensembl |
|
|
CA9778213 rs781104521 |
362 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA408360571 rs1448123798 |
362 | M>V | No |
ClinGen gnomAD |
|
|
rs1331397141 CA408360609 |
367 | N>D | No |
ClinGen gnomAD |
|
|
CA408360625 rs1435879822 |
369 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769456702 CA9778216 |
369 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1389120387 CA408360629 |
370 | G>E | No |
ClinGen TOPMed |
|
|
CA9778218 rs748353015 |
370 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1273952544 CA408361403 |
372 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs17849992 CA408361413 |
373 | M>L | No |
ClinGen TOPMed |
|
|
VAR_062301 CA312398126 rs17849992 COSM723509 |
373 | M>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP |
|
rs1229711925 CA408361435 |
374 | V>A | No |
ClinGen gnomAD |
|
|
rs776731572 CA408361430 |
374 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776731572 CA9778242 |
374 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA312398132 rs748464934 |
375 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA9778244 rs748464934 |
375 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs759982712 CA9778243 |
375 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206865613 CA408361461 |
376 | G>A | No |
ClinGen TOPMed |
|
|
rs775722218 CA9778245 |
377 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA408361481 rs1268644278 |
378 | S>C | No |
ClinGen gnomAD |
|
|
CA9778246 rs763305663 |
379 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs148760627 CA9778248 |
382 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_062302 | 386 | Q>R | No | UniProt | |
|
CA408361591 rs1238172837 |
387 | T>A | No |
ClinGen TOPMed |
|
|
rs751193663 CA9778249 |
390 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA408361656 rs1267781448 |
392 | F>S | No |
ClinGen gnomAD |
|
|
rs1161497086 CA408361675 |
393 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1244547269 CA408361680 |
394 | K>E | No |
ClinGen TOPMed |
|
|
rs1339132305 CA408361714 |
396 | F>V | No |
ClinGen TOPMed |
|
|
CA408361738 rs1320815642 |
397 | N>K | No |
ClinGen TOPMed |
|
|
rs201089732 CA9778251 |
398 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562857254 CA9778253 |
401 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9778255 rs753630745 |
402 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs780031945 CA9778254 |
402 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285941848 CA408361814 |
404 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778179818 CA9778257 |
410 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 411 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548605716 CA312398177 |
411 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201288091 CA9778258 |
411 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1399495767 CA408362619 |
412 | T>I | No |
ClinGen gnomAD |
|
|
CA9778294 rs774714878 |
414 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9778293 rs769106269 |
414 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA408362654 rs748503790 CA9778295 |
415 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568611157 CA408362672 |
417 | K>N | No |
ClinGen Ensembl |
|
|
CA9778296 rs771676294 |
417 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772896622 CA9778297 |
418 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778299 rs765943265 |
419 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408362700 rs1234175415 |
420 | G>R | No |
ClinGen gnomAD |
|
|
rs1166067682 CA408362710 |
421 | A>T | No |
ClinGen gnomAD |
|
|
CA408362720 rs776230056 |
422 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778300 rs776230056 |
422 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408362735 rs1421138959 |
423 | G>S | No |
ClinGen TOPMed |
|
|
rs1568611211 CA408362741 |
423 | G>V | No |
ClinGen Ensembl |
|
|
rs759558871 CA408362768 |
425 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408362817 rs1260712221 |
430 | V>M | No |
ClinGen gnomAD |
|
|
rs752607383 CA9778302 |
432 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs17807673 CA408362859 |
433 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408363110 rs1352685516 |
439 | E>A | No |
ClinGen TOPMed |
|
|
rs941863220 CA312399958 |
440 | L>P | No |
ClinGen Ensembl |
|
|
CA9778322 rs751266291 |
446 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA408363208 rs1473680116 |
447 | Q>* | No |
ClinGen TOPMed |
|
|
rs900250112 CA312399970 |
447 | Q>H | No |
ClinGen Ensembl |
|
|
rs760969796 CA9778323 |
447 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766525769 CA9778324 |
450 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753972890 CA9778325 |
451 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA9778326 rs755025436 |
452 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA408363310 rs1404510845 |
454 | D>E | No |
ClinGen gnomAD |
|
|
rs1343902657 CA408363306 |
454 | D>V | No |
ClinGen gnomAD |
|
|
rs779433485 CA9778327 |
456 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778328 rs141002390 |
458 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941985066 CA312399976 |
459 | L>F | No |
ClinGen TOPMed |
|
|
rs758780875 CA9778329 |
460 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9778332 rs770774015 |
461 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs747269679 CA9778331 |
461 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780978419 VAR_062304 CA9778333 |
462 | Y>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA408363448 rs1288665629 |
465 | V>A | No |
ClinGen TOPMed |
|
|
rs745421570 CA9778334 |
465 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775102576 CA408363466 |
467 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775102576 CA9778336 |
467 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM723508 rs150210442 CA9778337 |
467 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1184148906 CA408363704 |
469 | H>N | No |
ClinGen gnomAD |
|
|
rs745548243 CA9778353 |
469 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769524677 CA9778354 |
471 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778355 rs752548887 |
472 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752548887 CA312406498 |
472 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA408363725 rs1218799067 |
472 | P>S | No |
ClinGen TOPMed |
|
|
CA408363757 rs1227240296 |
477 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 481 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 482 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373944854 CA9778360 |
485 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373944854 CA408363812 |
485 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299467021 CA408363815 |
486 | H>Y | No |
ClinGen gnomAD |
|
|
CA9778363 rs765374952 |
487 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs764711408 CA9778365 |
490 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA408363848 rs1291828558 |
491 | S>G | No |
ClinGen TOPMed |
|
|
rs751980373 CA9778366 |
491 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9778367 rs757801115 |
492 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778371 rs779572142 |
496 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778370 rs755836066 |
496 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368084647 CA9778372 |
497 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9778374 rs748103135 |
498 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9778375 rs748103135 |
498 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408363901 rs1185008585 |
500 | T>S | No |
ClinGen TOPMed |
|
|
rs189671814 CA9778376 |
501 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770111384 CA9778377 |
502 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9778378 rs775552496 |
503 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408363937 rs1268436076 |
505 | W>G | No |
ClinGen gnomAD |
|
|
rs1472991172 CA408363947 |
506 | A>S | No |
ClinGen gnomAD |
|
|
rs761967614 CA9778402 |
506 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772769474 CA9778403 |
507 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA312406912 rs773819343 |
508 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9778404 rs773819343 |
508 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA408363962 rs1163647305 |
509 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408363978 rs1422481618 |
511 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs747278846 CA9778406 |
511 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408363986 rs1353609683 |
512 | L>F | No |
ClinGen TOPMed |
|
|
rs768977189 CA312406932 |
513 | R>W | No |
ClinGen gnomAD |
|
|
CA408364008 rs1334546233 COSM1024911 |
515 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759125987 CA9778408 |
515 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285283224 CA408364027 |
518 | A>G | No |
ClinGen gnomAD |
|
|
CA312406938 rs938934282 |
518 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001813156 rs2060303115 |
521 | Q>* | No |
ClinVar dbSNP |
|
| TCGA novel | 522 | E>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777737771 CA9778411 |
525 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9778413 rs757178211 |
527 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778414 rs368545054 |
530 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431212551 CA408364121 |
533 | V>G | No |
ClinGen gnomAD |
|
|
rs762214067 CA312406964 |
534 | F>L | No |
ClinGen Ensembl |
|
|
CA9778417 rs201921350 |
535 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408364131 rs201921350 |
535 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377313915 CA9778418 |
535 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9778419 rs377313915 |
535 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs535355543 CA9778422 |
536 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535355543 CA9778421 |
536 | A>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408364146 rs1600265501 |
538 | S>A | No |
ClinGen Ensembl |
|
|
CA9778424 rs764911639 |
538 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9778425 rs752324886 |
540 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312407001 rs752324886 |
540 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778427 rs763625435 |
543 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778430 rs781173761 |
546 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778429 rs147135162 |
546 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9778433 rs779322575 |
547 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA312407072 rs906445414 |
551 | Q>H | No |
ClinGen Ensembl |
|
|
CA9778438 rs778016282 |
554 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565694146 CA9778439 |
554 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408364278 rs1402368204 |
558 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408364292 rs1285410007 CA408364291 |
559 | F>L | No |
ClinGen gnomAD |
|
|
rs905759902 CA312408946 |
560 | G>E | No |
ClinGen Ensembl |
|
|
CA9778461 rs781083146 |
562 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746418067 CA9778463 |
566 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775843909 CA9778465 |
567 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408364347 rs775843909 |
567 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778464 rs770218585 |
567 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9778468 rs768361593 |
574 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9778469 rs774021325 |
576 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1182198296 CA408364413 |
577 | S>F | No |
ClinGen gnomAD |
|
|
rs1207095682 CA408364415 |
578 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 580 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9778490 rs772839557 |
583 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9778491 rs150733820 |
585 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335643635 CA408364861 |
589 | S>A | No |
ClinGen TOPMed |
|
|
rs1335643635 CA408364860 |
589 | S>T | No |
ClinGen TOPMed |
|
|
rs765112123 CA9778495 |
594 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | N>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9778497 rs762108877 |
597 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750567843 CA9778499 |
599 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA312410606 rs373800759 |
600 | D>N | No |
ClinGen ESP |
|
|
CA9778501 rs200775519 |
602 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408365025 rs1444358516 |
607 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 608 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 609 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408291549 CA408365080 |
611 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1408291549 CA408365078 |
611 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1408291549 CA408365076 |
611 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9778506 rs771826357 |
611 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1156709428 CA408365107 |
613 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9778507 rs777262857 |
614 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408365162 rs1475013130 |
618 | L>F | No |
ClinGen TOPMed |
|
|
rs570409272 CA9778509 |
619 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195519162 CA408365175 |
619 | I>N | No |
ClinGen TOPMed |
|
|
rs746568810 CA9778508 |
619 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs759552245 CA9778511 |
620 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1431198837 CA408365191 |
620 | M>T | No |
ClinGen gnomAD |
|
|
CA9778512 rs769559400 |
622 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9778514 rs762649192 |
623 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775412912 CA9778513 |
623 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000483588 rs368458175 CA9778515 |
625 | L>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750619093 CA9778516 |
626 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA408365289 rs760835514 |
628 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA9778517 rs760835514 |
628 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000997748 rs1216879587 |
631 | H>missing | No |
ClinVar dbSNP |
|
|
CA9778519 rs753860159 |
631 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244063638 CA408365325 |
631 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408365339 rs1186035817 |
632 | G>R | No |
ClinGen gnomAD |
|
|
rs755571634 CA408365363 |
634 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372083109 CA9778522 |
634 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755571634 CA9778521 |
634 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778523 rs753148320 |
635 | E>A | No |
ClinGen ExAC |
|
|
rs749038774 CA9778524 |
635 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 636 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281756256 CA408365532 |
636 | P>T | No |
ClinGen gnomAD |
|
|
CA9778545 rs753168027 |
637 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753168027 CA408365549 |
637 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 643 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361782823 CA408365643 |
644 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 651 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266818097 CA408365764 |
653 | D>G | No |
ClinGen gnomAD |
|
|
CA408365760 rs1220398639 |
653 | D>Y | No |
ClinGen gnomAD |
|
|
CA408365773 rs1438447617 |
654 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 654 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 655 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs950160004 CA312412182 |
656 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 656 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408365879 rs1469443559 |
661 | Y>F | No |
ClinGen gnomAD |
|
|
rs764558594 CA9778549 |
663 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408366300 rs1394991951 |
665 | T>N | No |
ClinGen gnomAD |
|
|
CA408366309 rs1465601351 |
666 | I>M | No |
ClinGen gnomAD |
|
|
rs1600280376 CA408366312 |
667 | A>P | No |
ClinGen Ensembl |
|
|
CA408366315 rs1341743578 |
667 | A>V | No |
ClinGen TOPMed |
|
|
CA9778572 rs764683518 |
669 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA9778574 rs757662443 |
670 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312286399 CA408366337 |
671 | K>E | No |
ClinGen gnomAD |
|
|
CA9778575 rs767325467 |
676 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778576 rs750063008 |
677 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268452222 CA408366380 |
677 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1459864187 CA408366392 |
679 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9778579 rs753327933 |
680 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408366403 rs753327933 |
680 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA9778581 rs778795684 |
684 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777585734 CA9778583 |
688 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777585734 CA408366457 |
688 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778584 rs746084153 |
689 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA634870360 rs1468581868 |
693 | D>G | No |
ClinGen gnomAD |
|
|
rs775491170 CA9778586 |
695 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408366511 rs1293674495 |
696 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769326503 CA9778588 |
698 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA408366539 rs1285117150 |
700 | A>E | No |
ClinGen gnomAD |
|
|
CA408366541 rs1285117150 |
700 | A>V | No |
ClinGen gnomAD |
|
|
CA9778591 rs772417195 |
701 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11696673 CA9778592 |
703 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408366561 rs1217363413 |
704 | M>L | No |
ClinGen TOPMed |
|
|
rs766037721 CA9778594 |
706 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778595 rs753333456 |
706 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200718362 CA9778596 |
708 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778348206 CA9778597 |
709 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746808499 CA9778601 |
716 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs374644863 CA312414979 |
717 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751349881 CA9778621 |
718 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408366663 rs1443733304 |
718 | R>P | No |
ClinGen gnomAD |
|
|
CA408366662 RCV001002504 rs1443733304 |
718 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA9778623 rs547193595 |
723 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749552078 CA9778624 |
728 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408366733 rs1359517578 |
729 | T>A | No |
ClinGen TOPMed |
|
|
rs755180077 CA9778625 |
730 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs958426878 CA312415009 |
731 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA312415013 rs566619176 |
732 | N>K | No |
ClinGen Ensembl |
|
|
CA408366762 rs1204525337 |
733 | L>P | No |
ClinGen gnomAD |
|
|
CA408366781 rs1252418830 |
736 | W>* | No |
ClinGen gnomAD |
|
|
rs779142854 CA9778626 |
737 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9778627 rs139750050 |
737 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1237991750 CA408366798 |
738 | Q>H | No |
ClinGen gnomAD |
|
|
rs755306720 CA9778645 |
741 | G>R | No |
ClinGen ExAC |
|
|
rs1183214509 CA408367204 |
743 | P>L | No |
ClinGen TOPMed |
|
|
CA408367206 rs1419148935 |
744 | I>V | No |
ClinGen TOPMed |
|
|
rs1009609793 CA312418330 |
745 | L>R | No |
ClinGen Ensembl |
|
|
CA312418320 rs966956239 |
745 | L>V | No |
ClinGen TOPMed |
|
|
CA312418341 rs780013637 |
749 | V>I | No |
ClinGen Ensembl |
|
|
CA312418377 rs368409065 |
750 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408367268 rs1429830688 |
754 | F>I | No |
ClinGen gnomAD |
|
|
CA312418403 rs978335485 |
754 | F>S | No |
ClinGen TOPMed |
|
|
CA408367279 rs1199618862 |
755 | M>T | No |
ClinGen TOPMed |
|
|
CA408367295 rs1331894607 |
757 | H>P | No |
ClinGen gnomAD |
|
|
CA9778650 rs747558930 |
758 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239765691 CA408367340 |
761 | L>R | No |
ClinGen TOPMed |
|
|
CA408367349 rs1376235965 |
762 | A>V | No |
ClinGen TOPMed |
|
|
rs769478135 CA9778656 |
764 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9778657 rs775101025 |
765 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA408367408 rs1600289173 |
766 | A>V | No |
ClinGen Ensembl |
|
|
CA9778658 rs763690610 |
767 | C>Y | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q15437
[MIM: 616858]: Cowden syndrome 7 (CWS7)
A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. {ECO:0000269|PubMed:26522472}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 224100]: Anemia, congenital dyserythropoietic, 2 (CDAN2)
An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. {ECO:0000269|PubMed:19561605, ECO:0000269|PubMed:19621418, ECO:0000269|PubMed:33159567}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. {ECO:0000269|PubMed:26522472}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. {ECO:0000269|PubMed:19561605, ECO:0000269|PubMed:19621418, ECO:0000269|PubMed:33159567}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q15437
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, Sec23/Sec24-type | 58 - 98 | IPR006895 |
| domain | Sec23/Sec24, trunk domain | 127 - 392 | IPR006896 |
| domain | Sec23/Sec24, helical domain | 520 - 618 | IPR006900 |
| domain | Gelsolin-like domain | 634 - 720 | IPR007123 |
| domain | Sec23/Sec24 beta-sandwich | 403 - 506 | IPR012990 |
| domain | Sec23, C-terminal | 612 - 732 | IPR037550 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| COPII vesicle coat | One of two multimeric complexes that forms a membrane vesicle coat. COPII is best characterized in S. cerevisiae, where the subunits are called Sar1p, Sec13p, Sec31p, Sec23p, and Sec24p. Vesicles with COPII coats are found associated with endoplasmic reticulum (ER) membranes at steady state. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum exit site | An endoplasmic reticulum part at which COPII-coated vesicles are produced. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| zinc ion binding | Binding to a zinc ion (Zn). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| COPII-coated vesicle cargo loading | The formation of a macromolecular complex between the COPII coat proteins and proteins and/or lipoproteins that are going to be transported by the COPII vesicle to the Golgi. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZN2 | SEC23B | Protein transport protein Sec23B | Bos taurus (Bovine) | PR |
| Q5ZK03 | SEC23A | Protein transport protein Sec23A | Gallus gallus (Chicken) | PR |
| Q15436 | SEC23A | Protein transport protein Sec23A | Homo sapiens (Human) | PR |
| Q9D662 | Sec23b | Protein transport protein Sec23B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATYLEFIQQ | NEERDGVRFS | WNVWPSSRLE | ATRMVVPLAC | LLTPLKERPD | LPPVQYEPVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CSRPTCKAVL | NPLCQVDYRA | KLWACNFCFQ | RNQFPPAYGG | ISEVNQPAEL | MPQFSTIEYV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IQRGAQSPLI | FLYVVDTCLE | EDDLQALKES | LQMSLSLLPP | DALVGLITFG | RMVQVHELSC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EGISKSYVFR | GTKDLTAKQI | QDMLGLTKPA | MPMQQARPAQ | PQEHPFASSR | FLQPVHKIDM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLTDLLGELQ | RDPWPVTQGK | RPLRSTGVAL | SIAVGLLEGT | FPNTGARIML | FTGGPPTQGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GMVVGDELKI | PIRSWHDIEK | DNARFMKKAT | KHYEMLANRT | AANGHCIDIY | ACALDQTGLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EMKCCANLTG | GYMVMGDSFN | TSLFKQTFQR | IFTKDFNGDF | RMAFGATLDV | KTSRELKIAG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AIGPCVSLNV | KGPCVSENEL | GVGGTSQWKI | CGLDPTSTLG | IYFEVVNQHN | TPIPQGGRGA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IQFVTHYQHS | STQRRIRVTT | IARNWADVQS | QLRHIEAAFD | QEAAAVLMAR | LGVFRAESEE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GPDVLRWLDR | QLIRLCQKFG | QYNKEDPTSF | RLSDSFSLYP | QFMFHLRRSP | FLQVFNNSPD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESSYYRHHFA | RQDLTQSLIM | IQPILYSYSF | HGPPEPVLLD | SSSILADRIL | LMDTFFQIVI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YLGETIAQWR | KAGYQDMPEY | ENFKHLLQAP | LDDAQEILQA | RFPMPRYINT | EHGGSQARFL |
| 730 | 740 | 750 | 760 | ||
| LSKVNPSQTH | NNLYAWGQET | GAPILTDDVS | LQVFMDHLKK | LAVSSAC |