Q12948
PR
Gene name |
FOXC1 (FKHL7, FREAC3) |
Protein name |
Forkhead box protein C1 |
Names |
Forkhead-related protein FKHL7, Forkhead-related transcription factor 3, FREAC-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2296 |
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 Q12948
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q12948-F1 | Predicted | AlphaFoldDB |
611 variants for Q12948
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA119637 RCV000008973 rs104893952 |
23 | Q>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1762516271 RCV001250450 |
30 | A>V | Anterior segment dysgenesis 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756196843 RCV000595267 RCV001573914 RCV000559210 |
31 | A>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416515 rs1057519471 |
34 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416537 rs1057519472 |
39 | A>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700281 CA248381 RCV000190252 rs372857241 |
47 | Y>* | Axenfeld-Rieger syndrome type 3 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs368260972 RCV000495841 CA362558272 |
64 | Y>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1762519905 RCV001063141 |
69 | P>A | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_058722 | 79 | P>L | RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity; no change on DNA bending activity [UniProt] | Yes | UniProt |
| VAR_058723 | 79 | P>R | RIEG3 [UniProt] | Yes | UniProt |
|
CA362558369 rs1554100945 RCV000646225 |
79 | P>S | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_058724 | 79 | P>T | RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity; no change on DNA bending activity [UniProt] | Yes | UniProt |
|
RCV002293431 CA10588415 rs376405759 RCV000255621 |
82 | S>R | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs104893953 CA119639 RCV000008978 VAR_007944 |
82 | S>T | Axenfeld-Rieger syndrome type 3 RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_078501 | 85 | A>P | RIEG3; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs886039568 VAR_058725 RCV000255576 CA10588416 RCV000416497 |
86 | L>F | Axenfeld-Rieger syndrome type 3 RIEG3; no change in location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_007945 rs104893954 RCV000008979 CA119641 |
87 | I>M | Anterior segment dysgenesis 3 RIEG3; loss of protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000153256 RCV002293421 CA234027 rs727503932 |
88 | T>I | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1762520834 RCV001046930 |
88 | T>P | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416542 CA16044262 rs1057519474 |
90 | A>D | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16044261 RCV000416522 rs1057519473 |
90 | A>T | Axenfeld-Rieger syndrome type 3 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_058726 | 91 | I>S | RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity; no change on DNA bending activity [UniProt] | Yes | UniProt |
| VAR_058727 | 91 | I>T | RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity; no change on DNA bending activity [UniProt] | Yes | UniProt |
|
rs1762521548 RCV001067954 |
101 | L>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416495 RCV001567276 rs1057519475 CA16044263 |
106 | Q>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA133389723 VAR_078502 rs917382067 |
109 | M>V | ASGD3 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs104893951 VAR_007815 RCV000008971 CA119636 |
112 | F>S | Axenfeld-Rieger syndrome type 3 ASGD3 and RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000793577 CA362558608 rs1581373749 |
115 | Y>C | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_058728 | 115 | Y>S | RIEG3 [UniProt] | Yes | UniProt |
|
rs1554100953 RCV000585805 |
117 | D>missing | Anterior segment dysgenesis 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759264099 RCV000646223 CA3614744 |
119 | K>R | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121909339 RCV000008981 CA119644 |
120 | Q>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA362558645 rs1581373773 RCV000824988 |
121 | G>S | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001064648 rs1762522833 |
123 | Q>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119634 rs104893958 VAR_007816 RCV000008969 |
126 | I>M | Anterior segment dysgenesis 3 ASGD3 and RIEG3; with glaucoma; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000190253 rs483352810 CA248383 VAR_078503 |
126 | I>S | RIEG3; hypomorphic mutation; decreased protein abundance; decreased protein stability; changed post-translational phosphorylation; decreased location at the nucleus; novel location at the cytoplasm; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_058729 rs1085307884 RCV000646226 CA362558693 |
127 | R>H | Axenfeld-Rieger syndrome type 3 Variant assessed as Somatic; impact. RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1085307884 RCV000488983 RCV000532837 VAR_078504 CA362558691 |
127 | R>L | Axenfeld-Rieger syndrome type 3 RIEG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_078505 | 128 | H>R | RIEG3; no effect on protein abundance; increased protein stability; decreased location at nucleus; loss of transcription regulatory region DNA binding; loss of sequence-specific DNA binding transcription factor activity [UniProt] | Yes | UniProt |
|
RCV000173256 VAR_058730 rs121909338 CA119643 RCV000008980 |
130 | L>F | Axenfeld-Rieger syndrome type 3 RIEG3; no effect on protein abundance; changed post-translational phosphorylation; novel location at aggresome, aggregation correspond to microtubule-dependent inclusion bodies; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_007817 rs104893957 CA119632 RCV000008968 |
131 | S>L | Anterior segment dysgenesis 3 RIEG3 and ASGD3; with glaucoma; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104893957 RCV001529509 RCV001171547 VAR_078506 |
131 | S>W | Axenfeld-Rieger syndrome type 3 ASGD3 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs2230096 RCV001063142 |
135 | C>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078507 | 135 | C>Y | RIEG3; decreased protein abundance; decreased protein stability; decreased location at nucleus; loss of transcription regulatory region DNA binding; loss of sequence-specific DNA binding transcription factor activity [UniProt] | Yes | UniProt |
|
rs1554100963 RCV000585863 |
137 | V>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078508 | 138 | K>E | ASGD3 [UniProt] | Yes | UniProt |
| VAR_058731 | 149 | G>D | RIEG3 [UniProt] | Yes | UniProt |
|
RCV001049764 rs1762525473 |
151 | Y>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198073 rs886041355 |
152 | W>C | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078509 | 152 | W>G | ASGD3; no change in protein abundance; changed post-translational phosphorylation; changed protein structure; decreased location at the nucleus; novel location at the cytoplasm; increased protein aggregation, aggregation do not correspond to microtubule-dependent inclusion bodies; loss of transcription regulatory region DNA binding; loss of sequence-specific DNA binding transcription factor activity [UniProt] | Yes | UniProt |
|
RCV000416526 CA16044264 rs1057519476 |
153 | T>P | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200042 rs1762526126 |
161 | M>missing | Anterior segment dysgenesis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_018150 | 161 | M>K | RIEG3 and ASGD3; no change in location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [UniProt] | Yes | UniProt |
| VAR_058732 | 161 | M>V | RIEG3; no effect on protein abundance; no effect on protein stability; no effect on location at nucleus; no effect on transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [UniProt] | Yes | UniProt |
|
CA362558934 rs1581373871 RCV000806635 |
162 | F>L | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002272227 CA16044265 rs1057519477 |
163 | E>* | Anterior segment dysgenesis 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_058733 | 165 | G>R | RIEG3; no change in location at the nucleus; no effect on transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [UniProt] | Yes | UniProt |
| VAR_058734 | 169 | R>P | RIEG3; no change in location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [UniProt] | Yes | UniProt |
|
rs1581373890 RCV000817211 VAR_078510 CA362558983 |
170 | R>W | Axenfeld-Rieger syndrome type 3 RIEG3; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000691768 RCV001200025 rs1183655796 |
173 | R>missing | Anterior segment dysgenesis Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1183655796 RCV001843374 |
173 | R>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1762526692 RCV001200026 |
173 | R>H | Anterior segment dysgenesis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765882 CA3614768 RCV000536750 rs751970827 RCV002526166 |
178 | D>H | Axenfeld-Rieger syndrome type 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001034861 rs752984586 |
179 | A>G | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002504005 RCV000298648 rs567719270 |
198 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001584112 rs1057519478 RCV000416505 |
200 | Q>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3614800 rs746629785 RCV001197446 |
219 | P>S | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000416521 rs1057519479 RCV001267710 |
223 | I>missing | Axenfeld-Rieger syndrome type 3 Hypertelorism and tetralogy of fallot [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1762534255 RCV001064027 |
232 | T>M | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250453 rs1762534303 |
233 | C>missing | Glaucoma of childhood [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213979 rs1762534894 |
238 | Q>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057519480 RCV000416550 |
240 | L>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062756 rs1762536800 |
251 | A>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA362559615 CA362559616 RCV000557071 rs1277775861 |
269 | S>R | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
rs1255472143 RCV001324145 CA362559676 |
279 | S>L | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000162086 VAR_078511 RCV000023070 CA128989 RCV001087974 rs79691946 RCV000153259 |
297 | P>S | Anterior segment dysgenesis 3 Axenfeld-Rieger syndrome type 3 ASGD3; no effect on protein abundance; increased protein stability; no effect on nuclear location; no effect on transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1057519481 RCV000416504 |
309 | S>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000646228 rs1241813534 |
320 | S>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3614839 RCV000960696 rs754743917 RCV001410368 |
321 | P>Q | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000592707 RCV002476323 CA362560046 rs1422224202 |
339 | S>P | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA133390925 rs897755884 RCV000530021 |
351 | G>R | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000262486 rs886043447 CA10605534 RCV002480030 RCV000813853 |
355 | P>L | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000723100 rs76840944 RCV001068047 |
378 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210632 rs76840944 RCV002491645 |
379 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000762251 RCV001869415 rs76840944 |
380 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs76840944 RCV000173259 RCV001610481 RCV001521230 |
380 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000646224 rs1554101058 |
381 | A>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA362560324 RCV000646227 rs1215019381 RCV002533271 |
385 | G>E | Axenfeld-Rieger syndrome type 3 Variant assessed as Somatic; impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001281365 rs1762550387 |
386 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416528 rs1057519482 CA16044270 |
422 | S>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002488486 CA362560709 rs1413102496 RCV001725857 |
446 | H>R | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs756037576 RCV002515806 RCV000190274 |
447 | G>DG | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002061022 RCV000872001 rs398123612 RCV000735057 |
454 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398123612 RCV001731769 RCV000540612 |
455 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001510677 RCV001701736 rs398123612 RCV000079684 |
456 | G>missing | Anterior segment dysgenesis 3 Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398123612 RCV000173258 RCV002225491 RCV001517453 |
456 | G>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702669 RCV002485733 CA133391380 rs908841297 |
457 | Q>R | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001859212 rs1297907614 RCV001200031 |
467 | Q>* | Anterior segment dysgenesis Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001397059 RCV000729908 rs747574884 |
494 | A>missing | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760676014 CA16044271 RCV000416548 |
497 | Y>* | Axenfeld-Rieger syndrome type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs867581817 CA362557869 |
2 | Q>E | No |
ClinGen gnomAD |
|
|
rs867581817 CA133389031 |
2 | Q>K | No |
ClinGen gnomAD |
|
|
rs1419959878 CA362557884 |
4 | R>C | No |
ClinGen gnomAD |
|
|
CA362557885 rs1302205366 |
4 | R>H | No |
ClinGen gnomAD |
|
|
rs1179407882 CA362557906 |
7 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 7 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581373410 RCV001008060 |
8 | S>missing | No |
ClinVar dbSNP |
|
|
CA362557918 rs1251718184 |
9 | S>T | No |
ClinGen gnomAD |
|
|
CA362557932 rs1311597906 |
11 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1177304155 RCV000723022 CA362557946 |
13 | L>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA362557943 rs1245309163 |
13 | L>V | No |
ClinGen gnomAD |
|
|
CA362557949 rs1429324987 |
14 | G>R | No |
ClinGen TOPMed |
|
|
CA362557954 CA362557955 rs1289938403 |
15 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362557959 rs1453535353 |
16 | V>M | No |
ClinGen gnomAD |
|
|
rs1450176374 CA362557966 |
17 | P>S | No |
ClinGen TOPMed |
|
|
rs1180074594 CA362557981 |
19 | L>F | No |
ClinGen TOPMed |
|
|
rs1232604219 CA362557985 |
20 | G>S | No |
ClinGen gnomAD |
|
|
rs1179417864 CA362557995 |
21 | G>A | No |
ClinGen gnomAD |
|
|
CA133389073 rs932770511 |
21 | G>S | No |
ClinGen TOPMed |
|
|
rs1381453628 CA362557996 |
22 | E>K | No |
ClinGen gnomAD |
|
|
CA362558005 rs104893952 |
23 | Q>E | No |
ClinGen gnomAD |
|
|
CA362558017 rs1554100920 |
24 | S>R | No |
ClinGen Ensembl |
|
|
CA362558014 rs1256342745 |
24 | S>T | No |
ClinGen TOPMed |
|
|
CA362558028 rs1203626097 |
26 | Y>H | No |
ClinGen TOPMed |
|
|
rs1228418965 CA362558042 |
28 | A>P | No |
ClinGen TOPMed |
|
|
CA362558047 rs1353668209 |
29 | A>T | No |
ClinGen gnomAD |
|
|
rs1377536435 CA362558062 |
31 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs878862284 CA133389104 |
31 | A>T | No |
ClinGen Ensembl |
|
|
rs1377536435 CA362558063 |
31 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749708674 CA3614695 |
32 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3614696 rs771450858 |
33 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 35 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133389128 rs888646491 |
35 | G>S | No |
ClinGen TOPMed |
|
|
CA362558089 rs1229052822 |
36 | G>D | No |
ClinGen gnomAD |
|
|
rs1382030015 CA362558086 |
36 | G>S | No |
ClinGen TOPMed |
|
|
rs1165097104 CA362558095 |
37 | Y>C | No |
ClinGen gnomAD |
|
|
CA362558101 rs1303780451 |
38 | T>A | No |
ClinGen TOPMed |
|
|
rs746088193 CA3614698 |
39 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362558118 rs1239393971 |
40 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1170733927 CA362558111 |
40 | M>L | No |
ClinGen TOPMed |
|
|
rs772118724 CA3614699 |
41 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362558126 rs775495187 |
42 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3614700 rs775495187 |
42 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA362558150 rs1473593889 |
45 | S>T | No |
ClinGen gnomAD |
|
|
CA362558153 rs1299761401 |
46 | V>M | No |
ClinGen gnomAD |
|
|
CA362558171 rs1408057194 |
48 | S>L | No |
ClinGen gnomAD |
|
|
CA362558182 rs1451752406 |
50 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3614704 rs761549150 |
52 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA362558195 rs1448805039 |
52 | H>R | No |
ClinGen gnomAD |
|
|
CA362558199 rs1269894229 |
53 | A>T | No |
ClinGen gnomAD |
|
|
CA133389224 rs1022630517 |
53 | A>V | No |
ClinGen TOPMed |
|
|
CA362558216 rs1561674584 |
55 | Q>R | Variant assessed as Somatic; 4.669e-05 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758053417 CA3614707 |
57 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1032706802 CA133389259 |
57 | P>S | No |
ClinGen TOPMed |
|
|
rs1032706802 CA133389247 |
57 | P>T | No |
ClinGen TOPMed |
|
|
CA362558231 rs1202289991 |
58 | G>S | No |
ClinGen gnomAD |
|
|
CA362558237 rs1281310527 |
59 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362558251 rs1443692034 CA362558249 |
60 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1310279713 CA362558247 |
60 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3614708 rs751162614 |
61 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA133389308 rs756657100 |
62 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756657100 CA3614709 |
62 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778382469 CA3614710 |
62 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA133389284 rs756657100 |
62 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424007865 CA362558263 |
63 | A>G | No |
ClinGen gnomAD |
|
|
rs1581373589 CA362558259 |
63 | A>T | No |
ClinGen Ensembl |
|
|
CA362558269 rs1174233249 |
64 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA362558270 rs1174233249 |
64 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1317651795 CA362558276 |
65 | G>E | No |
ClinGen gnomAD |
|
|
rs1415182366 CA362558274 |
65 | G>R | No |
ClinGen gnomAD |
|
|
rs1279269285 CA362558281 |
66 | P>H | No |
ClinGen gnomAD |
|
|
CA362558279 rs780155404 |
66 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3614716 rs780155404 |
66 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450674863 CA362558297 |
68 | T>M | No |
ClinGen TOPMed |
|
|
CA3614725 rs762644463 |
74 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs867754327 CA133389479 |
74 | K>R | No |
ClinGen Ensembl |
|
|
CA133389497 rs1050413147 |
75 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765987336 CA362558355 |
77 | V>L | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3614726 rs765987336 |
77 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421559989 CA362558410 |
85 | A>S | No |
ClinGen gnomAD |
|
|
CA362558413 rs1085307508 RCV000490231 |
85 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 88 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3614729 rs767147260 |
92 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1581373679 CA362558468 |
94 | A>D | No |
ClinGen Ensembl |
|
|
CA133389587 rs369078747 |
95 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369078747 CA362558471 |
95 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA133389606 rs1037043441 |
96 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1320020410 CA362558484 |
97 | K>E | No |
ClinGen TOPMed |
|
|
rs1581373693 RCV000998509 |
98 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 98 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886044143 RCV000330894 |
98 | K>missing | No |
ClinVar dbSNP |
|
|
CA362558500 rs1581373699 |
99 | I>L | No |
ClinGen Ensembl |
|
|
rs757767235 CA3614730 |
99 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390820584 CA362558506 |
100 | T>A | No |
ClinGen TOPMed |
|
|
rs779318918 CA3614731 |
100 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1037208972 CA133389665 |
102 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 105 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3614736 rs575996895 |
108 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3614738 rs748064350 |
109 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1181049200 CA362558567 |
109 | M>T | No |
ClinGen gnomAD |
|
|
rs146275363 CA3614739 |
110 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs104893951 CA3614742 |
112 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs906356509 CA133389819 |
116 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1391147097 CA362558631 |
118 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1000269656 CA133389847 |
120 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362558641 rs1000269656 |
120 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs562544227 CA133389896 |
126 | I>L | No |
ClinGen Ensembl |
|
|
rs780403354 CA3614751 |
128 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362558723 rs1297782339 |
132 | L>P | No |
ClinGen gnomAD |
|
|
CA3614753 rs9502980 |
137 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3614754 rs9502980 |
137 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756248798 CA3614755 |
138 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs957987530 CA133389972 |
140 | P>R | No |
ClinGen Ensembl |
|
|
CA3614756 rs777521814 |
140 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749259978 CA3614757 |
141 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA362558783 rs1168972944 |
142 | D>N | No |
ClinGen gnomAD |
|
|
CA362558785 rs1168972944 |
142 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1762525428 RCV001268417 |
150 | S>missing | No |
ClinVar dbSNP |
|
|
rs775317870 CA3614763 |
151 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000330423 rs886041355 CA10603005 |
152 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 172 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1183655796 | 173 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432538549 CA362559015 |
175 | K>R | No |
ClinGen gnomAD |
|
|
rs751970827 CA362559035 |
178 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614770 rs767686358 |
179 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs752984586 CA3614771 |
179 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362559046 rs1464165330 |
180 | V>M | No |
ClinGen gnomAD |
|
|
CA3614775 rs757318312 |
182 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs142371761 CA3614774 |
182 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142371761 CA3614773 |
182 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3614777 rs778823995 |
183 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3614778 rs745623418 |
185 | E>Q | No |
ClinGen ExAC |
|
|
CA133390179 rs927531711 |
186 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362559096 rs1256616942 |
187 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772018744 CA3614780 |
187 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3614779 rs772018744 |
187 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1485684451 CA362559101 |
188 | R>G | No |
ClinGen gnomAD |
|
|
CA362559102 rs1289524941 |
188 | R>K | No |
ClinGen gnomAD |
|
|
CA362559109 rs1227876001 |
189 | L>Q | No |
ClinGen TOPMed |
|
|
CA3614783 rs776265153 |
190 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3614786 rs376935827 |
193 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3614785 rs766912110 |
193 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614791 rs752794025 |
194 | P>Q | No |
ClinGen ExAC |
|
|
CA3614789 rs752794025 |
194 | P>R | No |
ClinGen ExAC |
|
|
CA3614788 rs767879416 |
194 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs891439006 CA133390263 |
196 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1040087795 CA133390266 |
198 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362559167 rs1220837964 |
199 | R>H | No |
ClinGen gnomAD |
|
|
CA3614794 rs549370363 |
200 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362559174 rs1165534594 |
200 | Q>R | No |
ClinGen TOPMed |
|
|
rs757226770 CA3614795 |
201 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362559187 rs1288507437 |
202 | P>L | No |
ClinGen gnomAD |
|
|
CA362559185 rs1288507437 |
202 | P>Q | No |
ClinGen gnomAD |
|
|
CA362559211 rs1245295588 |
206 | P>L | No |
ClinGen gnomAD |
|
|
rs1245295588 CA362559212 |
206 | P>R | No |
ClinGen gnomAD |
|
|
rs1221315711 CA362559207 |
206 | P>S | No |
ClinGen gnomAD |
|
|
CA3614796 rs778948646 |
208 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA362559233 rs1242217085 |
209 | A>V | No |
ClinGen gnomAD |
|
|
CA362559234 rs1489771788 |
210 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362559245 rs1250404259 |
211 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362559244 rs1192326707 |
211 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362559242 rs1192326707 |
211 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1438597011 CA362559254 |
212 | N>K | No |
ClinGen gnomAD |
|
|
CA362559267 rs1381782521 |
214 | P>L | No |
ClinGen gnomAD |
|
|
CA362559274 rs1419864390 |
216 | P>T | No |
ClinGen gnomAD |
|
|
CA362559289 rs1163852789 |
218 | P>S | No |
ClinGen gnomAD |
|
|
rs1328455307 CA362559298 |
219 | P>L | No |
ClinGen TOPMed |
|
|
rs768405602 CA3614801 |
221 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3614802 rs780537192 |
223 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362559317 rs780537192 |
223 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373526812 CA362559323 |
224 | Q>E | No |
ClinGen TOPMed |
|
|
rs1311483084 CA362559328 |
224 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs747618420 CA3614803 |
225 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402674342 CA362559356 |
228 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3614805 rs774780317 |
228 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA362559358 TCGA novel rs1581374093 |
229 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1016962790 CA133390362 |
231 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1016962790 CA133390361 |
231 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362559390 rs760040270 |
233 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362559396 rs1190858384 |
234 | P>L | No |
ClinGen TOPMed |
|
|
CA3614808 rs1554100994 |
235 | S>L | No |
ClinGen Ensembl |
|
|
CA3614811 rs760782734 |
239 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362559423 rs764413960 |
239 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs764413960 CA3614812 |
239 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760782734 CA133390400 |
239 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210300727 CA362559428 |
240 | L>P | No |
ClinGen TOPMed |
|
|
rs1317322703 CA362559434 |
241 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3614814 rs761930785 |
242 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362559437 rs1399477142 |
242 | P>S | No |
ClinGen gnomAD |
|
|
rs765414694 CA3614816 |
243 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750385113 CA3614817 |
243 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133390501 rs927447431 |
244 | A>T | No |
ClinGen TOPMed |
|
|
CA362559458 rs1282700439 |
246 | L>M | No |
ClinGen gnomAD |
|
|
CA362559468 rs1229250100 |
247 | G>V | No |
ClinGen gnomAD |
|
|
rs1257757830 CA362559475 |
248 | S>R | No |
ClinGen gnomAD |
|
|
rs1561675271 CA362559479 |
249 | G>C | No |
ClinGen Ensembl |
|
|
rs936269544 CA133390511 |
249 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362559481 rs936269544 |
249 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3614818 rs758470044 |
251 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758470044 CA362559490 |
251 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362559494 rs1194267101 |
251 | A>V | No |
ClinGen TOPMed |
|
|
rs1259243589 CA362559498 |
252 | A>V | No |
ClinGen gnomAD |
|
|
rs866930352 CA133390529 |
253 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 253 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362559505 rs1437969513 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362559506 rs1246066848 |
254 | V>L | No |
ClinGen TOPMed |
|
|
rs1473542448 CA362559525 |
256 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1235390240 CA362559521 |
256 | K>T | No |
ClinGen gnomAD |
|
|
rs1554101000 RCV000521092 CA362559535 |
258 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1188421544 CA362559546 |
259 | S>N | No |
ClinGen gnomAD |
|
|
CA3614819 rs779693228 |
260 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476699724 CA362559551 |
260 | P>S | No |
ClinGen gnomAD |
|
|
rs751410971 CA3614822 |
261 | D>G | No |
ClinGen ExAC TOPMed |
|
|
CA362559556 rs1236661020 |
261 | D>Y | No |
ClinGen TOPMed |
|
|
rs1561675331 CA362559564 |
262 | S>N | No |
ClinGen Ensembl |
|
|
rs945696999 CA133390575 |
263 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs568232543 CA3614824 |
264 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384395424 CA362559585 |
265 | S>G | No |
ClinGen TOPMed |
|
|
CA362559597 rs1211344180 |
266 | S>R | No |
ClinGen gnomAD |
|
|
rs747812123 CA3614825 |
269 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1448966951 CA362559613 |
269 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA133390625 rs901581290 |
270 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1220839909 CA362559627 |
271 | S>I | No |
ClinGen gnomAD |
|
|
rs769224835 CA3614826 |
274 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1581374260 CA362559656 |
276 | S>G | No |
ClinGen Ensembl |
|
|
CA3614827 rs777329712 |
278 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362559671 rs777329712 |
278 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs887593347 CA133390637 |
278 | P>S | No |
ClinGen TOPMed |
|
|
CA362559694 rs1257746851 |
282 | P>L | No |
ClinGen TOPMed |
|
|
rs1487219222 CA362559704 |
284 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362559708 rs1195569486 |
284 | S>R | No |
ClinGen gnomAD |
|
|
rs746357506 CA3614828 |
287 | G>D | No |
ClinGen ExAC |
|
|
CA3614829 rs772681923 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1170913417 CA362559732 |
289 | D>N | No |
ClinGen gnomAD |
|
|
CA362559742 rs1227527808 |
290 | S>A | No |
ClinGen TOPMed |
|
|
CA3614830 rs775681400 |
290 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226942120 CA362559745 |
291 | A>T | No |
ClinGen TOPMed |
|
|
rs1297884601 CA362559750 |
291 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1358861014 CA362559757 |
292 | P>L | No |
ClinGen gnomAD |
|
|
CA362559763 rs1402251277 |
293 | P>L | No |
ClinGen gnomAD |
|
|
CA362559761 rs1402251277 |
293 | P>Q | No |
ClinGen gnomAD |
|
|
CA362559774 rs1299890534 |
295 | P>R | No |
ClinGen TOPMed |
|
|
CA10604981 rs886043005 RCV000380037 |
296 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1331057949 CA362559778 |
296 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362559791 rs1234364255 |
298 | S>F | No |
ClinGen gnomAD |
|
|
CA362559795 rs1395239476 |
299 | A>V | No |
ClinGen gnomAD |
|
|
CA362559801 rs1284950087 |
300 | P>Q | No |
ClinGen gnomAD |
|
|
CA362559803 rs1284950087 |
300 | P>R | No |
ClinGen gnomAD |
|
|
rs1218529952 CA362559809 |
301 | P>L | No |
ClinGen gnomAD |
|
|
CA133390673 rs897182241 |
302 | P>R | No |
ClinGen TOPMed |
|
|
CA362559817 rs1450995094 |
303 | H>Y | No |
ClinGen gnomAD |
|
|
rs1581374353 CA362559843 |
306 | Q>R | No |
ClinGen Ensembl |
|
|
CA362559848 rs1024278363 |
307 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA133390676 rs1024278363 |
307 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 309 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362559873 rs1421703002 |
310 | V>G | No |
ClinGen gnomAD |
|
|
rs1378712857 CA362559868 |
310 | V>M | No |
ClinGen gnomAD |
|
|
CA362559874 rs1294226013 |
311 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA362559883 rs1390518994 |
312 | N>D | No |
ClinGen gnomAD |
|
|
CA362559893 rs1326180997 |
313 | I>N | No |
ClinGen gnomAD |
|
|
CA362559920 rs1307815779 |
317 | L>Q | No |
ClinGen gnomAD |
|
|
CA362559931 rs1355455507 |
319 | G>E | No |
ClinGen gnomAD |
|
|
CA362559928 rs1390061489 |
319 | G>R | No |
ClinGen TOPMed |
|
|
CA133390713 rs754743917 |
321 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614838 rs751474761 |
321 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362559956 rs1182863971 |
323 | S>I | No |
ClinGen gnomAD |
|
|
rs752341131 CA3614841 |
323 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456771051 CA362559969 |
325 | A>V | No |
ClinGen gnomAD |
|
|
CA362559970 rs1395872805 |
326 | A>T | No |
ClinGen gnomAD |
|
|
rs755818322 CA3614842 |
326 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1392616157 CA362559985 |
328 | L>F | No |
ClinGen gnomAD |
|
|
rs748832697 CA133390783 |
329 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748832697 CA3614844 |
329 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362560002 rs1242365822 |
331 | G>R | No |
ClinGen gnomAD |
|
|
CA362560009 rs1194968851 |
332 | L>F | No |
ClinGen TOPMed |
|
|
CA3614846 rs780556121 |
332 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA362560012 rs747480036 |
333 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614848 rs769063534 |
333 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747480036 CA362560013 |
333 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231007703 CA362560021 |
334 | A>V | No |
ClinGen gnomAD |
|
|
rs777196009 CA3614849 |
335 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs777196009 CA362560022 |
335 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA362560043 rs1208477626 |
338 | A>G | No |
ClinGen TOPMed |
|
|
CA362560039 rs1196449628 |
338 | A>T | No |
ClinGen gnomAD |
|
|
rs748359636 CA3614850 |
339 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561675633 CA362560050 |
340 | S>T | No |
ClinGen Ensembl |
|
|
rs922922417 CA362560059 |
341 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs922922417 CA133390874 |
341 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773600190 CA3614852 |
342 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773600190 CA3614853 |
342 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362560065 rs1455415866 |
343 | G>R | No |
ClinGen TOPMed |
|
|
CA362560081 rs1401087511 |
345 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362560083 rs1401087511 |
345 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1294714025 CA362560088 |
346 | P>H | No |
ClinGen gnomAD |
|
|
CA3614855 rs774278350 |
346 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs556342882 CA3614856 |
347 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA133390908 rs556342882 |
347 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217776043 CA362560090 |
347 | P>S | No |
ClinGen gnomAD |
|
|
rs1228257139 CA362560102 |
349 | A>V | No |
ClinGen gnomAD |
|
|
rs1255433970 CA362560106 |
350 | L>F | No |
ClinGen gnomAD |
|
|
rs897755884 CA362560111 |
351 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA133390934 rs1013470663 |
352 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3614859 rs755730167 |
354 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763692952 CA3614860 |
355 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362560138 rs1170577808 |
356 | G>S | No |
ClinGen gnomAD |
|
|
CA133390973 rs1034421067 |
357 | Q>H | No |
ClinGen TOPMed |
|
|
rs1428492391 CA362560163 |
359 | S>F | No |
ClinGen TOPMed |
|
|
CA362560166 rs1422349424 |
360 | L>F | No |
ClinGen gnomAD |
|
|
CA362560189 rs1011692878 |
363 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA133390990 rs1011692878 |
363 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA362560187 rs1399165730 |
363 | S>P | No |
ClinGen gnomAD |
|
|
CA3614865 rs755490120 |
364 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133390996 rs867806300 |
364 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1236568059 CA362560208 |
366 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1255631894 CA362560224 |
368 | T>I | No |
ClinGen TOPMed |
|
| VAR_078512 | 368 | T>N | no effect on protein abundance; no effect on protein stability; no effect on nuclear location; no effect on transcription regulatory region DNA binding; no effect on sequence-specific DNA binding transcription factor activity [UniProt] | No | UniProt |
|
rs535065221 CA3614866 |
370 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273936242 CA362560240 |
371 | A>E | No |
ClinGen TOPMed |
|
|
rs748486189 CA3614867 |
371 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1273936242 CA362560242 |
371 | A>V | No |
ClinGen TOPMed |
|
|
rs1281315755 RCV000722725 |
371 | A>missing | No |
ClinVar dbSNP |
|
|
CA362560243 rs770305851 |
372 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614868 rs770305851 |
372 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270754997 CA362560248 |
373 | S>R | No |
ClinGen TOPMed |
|
|
CA362560256 rs1353368979 |
374 | S>A | No |
ClinGen TOPMed |
|
|
rs1314519590 CA362560261 |
374 | S>L | No |
ClinGen TOPMed |
|
|
rs1416080524 CA362560263 |
375 | G>R | No |
ClinGen TOPMed |
|
|
rs922940979 CA133391083 |
376 | G>D | No |
ClinGen TOPMed |
|
|
rs1581374619 CA362560277 |
377 | G>A | No |
ClinGen Ensembl |
|
|
rs1202507115 CA362560273 |
377 | G>S | No |
ClinGen TOPMed |
|
|
rs1581374631 CA362560283 |
378 | G>A | No |
ClinGen Ensembl |
|
|
CA362560280 rs1439680350 |
378 | G>R | No |
ClinGen TOPMed |
|
|
rs1439680350 CA362560279 |
378 | G>S | No |
ClinGen TOPMed |
|
|
rs1581374634 CA362560286 |
379 | G>R | No |
ClinGen Ensembl |
|
|
rs730882054 RCV000162085 |
380 | G>missing | No |
ClinVar dbSNP |
|
|
rs1581374640 CA362560295 |
380 | G>A | No |
ClinGen Ensembl |
|
|
RCV000173257 rs796065323 |
381 | A>missing | No |
ClinVar dbSNP |
|
|
rs1418660478 CA362560301 |
381 | A>G | No |
ClinGen gnomAD |
|
|
rs1581374651 CA362560299 |
381 | A>P | No |
ClinGen Ensembl |
|
|
rs1346788118 CA362560307 |
382 | G>A | No |
ClinGen gnomAD |
|
|
CA362560312 rs1335794239 |
383 | A>D | No |
ClinGen TOPMed |
|
|
rs1335794239 CA362560313 |
383 | A>G | No |
ClinGen TOPMed |
|
|
CA362560310 rs1454100173 |
383 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1461326689 CA362560318 |
384 | A>G | No |
ClinGen TOPMed |
|
|
CA362560331 rs1411477778 |
386 | G>A | No |
ClinGen TOPMed |
|
|
CA362560330 rs1411477778 |
386 | G>D | No |
ClinGen TOPMed |
|
|
CA362560334 rs1471296145 |
387 | A>P | No |
ClinGen TOPMed |
|
|
rs1471296145 CA362560335 |
387 | A>S | No |
ClinGen TOPMed |
|
|
rs1581374694 CA362560340 |
388 | G>R | No |
ClinGen Ensembl |
|
|
CA362560349 rs1581374698 |
389 | G>A | No |
ClinGen Ensembl |
|
|
rs1292926400 CA362560359 |
391 | G>R | No |
ClinGen gnomAD |
|
|
CA133391119 rs1036201687 |
392 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1036201687 CA362560367 |
392 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1376478904 CA362560383 |
394 | H>Q | No |
ClinGen gnomAD |
|
|
CA362560377 rs1304195222 |
394 | H>Y | No |
ClinGen gnomAD |
|
|
CA362560385 rs1258546188 |
395 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3614875 rs749475990 |
395 | C>Y | No |
ClinGen ExAC |
|
|
rs1281926598 CA362560396 |
396 | N>K | No |
ClinGen TOPMed |
|
|
rs555356900 CA133391141 |
396 | N>S | No |
ClinGen 1000Genomes |
|
|
rs1273659768 CA362560418 |
400 | M>L | No |
ClinGen TOPMed |
|
|
rs1438164361 CA362560422 |
400 | M>R | No |
ClinGen TOPMed |
|
|
rs1438164361 CA362560421 |
400 | M>T | No |
ClinGen TOPMed |
|
|
CA133391156 rs949297601 |
403 | Y>H | No |
ClinGen TOPMed |
|
|
rs865901577 CA133391162 |
404 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1489718866 CA362560459 |
406 | G>C | No |
ClinGen gnomAD |
|
|
rs1344932591 CA362560477 |
409 | G>R | No |
ClinGen TOPMed |
|
|
RCV000627526 rs1554101076 |
410 | G>missing | No |
ClinVar dbSNP |
|
|
CA362560485 rs1157396004 |
410 | G>C | No |
ClinGen TOPMed |
|
|
CA362560486 rs1438508801 |
410 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1173077837 CA362560493 |
411 | H>R | No |
ClinGen TOPMed |
|
|
rs1401137904 CA362560501 |
412 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 413 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs907221308 CA133391170 |
413 | Q>L | No |
ClinGen TOPMed |
|
|
CA362560522 rs1254784233 |
415 | A>V | No |
ClinGen TOPMed |
|
|
rs772035500 CA3614879 |
416 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362560533 rs1581374800 |
417 | G>E | No |
ClinGen Ensembl |
|
|
CA362560528 rs1326462152 |
417 | G>R | No |
ClinGen gnomAD |
|
|
CA133391205 rs1056318557 |
418 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1056318557 CA362560538 |
418 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1444644413 CA362560555 |
421 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362560561 rs1057519482 |
422 | S>L | No |
ClinGen gnomAD |
|
|
CA133391214 rs281865460 |
423 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs281865460 CA133391219 |
423 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA362560565 rs1228121607 |
423 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 426 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1011576688 CA362560585 |
426 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA133391241 rs1051933 |
426 | D>N | No |
ClinGen Ensembl |
|
|
rs760410240 CA3614881 |
427 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760410240 CA362560591 |
427 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA362560587 rs1214901992 |
427 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362560598 rs1381298157 |
429 | P>S | No |
ClinGen gnomAD |
|
|
rs1235590893 CA362560607 |
430 | D>G | No |
ClinGen TOPMed |
|
|
rs1361878815 CA362560616 |
431 | Y>C | No |
ClinGen TOPMed |
|
|
RCV000598602 rs1554101091 |
433 | L>missing | No |
ClinVar dbSNP |
|
|
rs1327616334 CA362560629 |
433 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362560634 rs1431434272 |
434 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362560630 rs753526474 |
434 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614883 rs753526474 |
434 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362560639 rs1411407696 |
435 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1422827955 CA362560648 |
437 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1464138433 CA362560652 |
437 | T>I | No |
ClinGen gnomAD |
|
|
rs1417372810 CA362560654 |
438 | S>C | No |
ClinGen TOPMed |
|
|
CA362560664 rs1486098383 |
439 | S>N | No |
ClinGen TOPMed |
|
|
CA3614884 rs761435355 |
440 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA133391327 rs998203463 |
440 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1301281789 CA362560680 |
441 | S>L | No |
ClinGen gnomAD |
|
|
rs1447517977 CA362560676 |
441 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1280338707 CA362560690 |
443 | S>C | No |
ClinGen TOPMed |
|
|
CA3614885 rs75089353 |
445 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362560723 rs1316521368 |
448 | G>D | No |
ClinGen gnomAD |
|
|
CA362560720 rs1278191708 |
448 | G>S | No |
ClinGen gnomAD |
|
|
rs886044281 CA10606567 RCV000353167 |
450 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1172493132 CA362560732 |
450 | G>C | No |
ClinGen TOPMed |
|
|
CA362560746 rs1209048036 |
452 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV000723064 rs398123612 |
452 | G>missing | No |
ClinVar dbSNP |
|
|
CA362560768 rs1188314137 |
456 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1188314137 CA362560767 |
456 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1272868667 CA362560780 |
458 | E>K | No |
ClinGen TOPMed |
|
|
CA362560803 rs1420361831 |
461 | H>P | No |
ClinGen gnomAD |
|
|
rs577854700 CA133391389 |
463 | P>L | No |
ClinGen 1000Genomes |
|
|
CA362560821 rs1174290910 |
464 | A>T | No |
ClinGen gnomAD |
|
|
CA362560827 rs1377497322 |
465 | A>T | No |
ClinGen gnomAD |
|
|
rs1297907614 CA362560842 |
467 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs919121619 CA133391416 |
468 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3614889 rs749942967 |
469 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 470 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362560860 rs1371218326 |
470 | L>V | No |
ClinGen TOPMed |
|
|
rs758013827 CA3614890 |
471 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349533253 CA362560898 |
476 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs543505807 CA3614892 |
477 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1195296950 CA362560915 |
478 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756479242 CA3614893 |
478 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1195296950 CA362560917 |
478 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362560923 rs1477778731 |
479 | G>D | No |
ClinGen gnomAD |
|
|
rs1242618172 CA362560918 |
479 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1397131390 CA362560924 |
480 | G>R | No |
ClinGen gnomAD |
|
|
rs1251979897 CA362560938 |
482 | L>M | No |
ClinGen TOPMed |
|
|
CA362560956 rs749512415 |
484 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273171402 CA362560960 |
485 | L>S | No |
ClinGen TOPMed |
|
|
CA362560966 rs1402793913 |
486 | A>S | No |
ClinGen gnomAD |
|
|
CA133391517 rs903382610 |
489 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779015641 CA3614903 |
489 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614904 rs767729842 |
490 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362560993 rs1442933152 |
491 | A>T | No |
ClinGen gnomAD |
|
|
CA362561010 rs1234617529 |
493 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362561018 rs772158545 |
495 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614905 rs772158545 |
495 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284875756 CA362561025 |
496 | G>A | No |
ClinGen gnomAD |
|
|
rs775345164 CA3614906 |
496 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133391559 rs1008202997 |
498 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA133391567 rs542630440 |
498 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs542630440 CA362561037 |
498 | P>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA362561035 rs1008202997 |
498 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3614908 rs768429087 |
499 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1362278016 CA362561042 |
499 | G>V | No |
ClinGen gnomAD |
|
|
CA362561060 rs1460298239 |
502 | Q>E | No |
ClinGen gnomAD |
|
|
rs1268420006 CA362561071 |
503 | N>S | No |
ClinGen TOPMed |
|
|
CA362561096 rs1485010027 |
506 | S>L | No |
ClinGen TOPMed |
|
|
rs1396089144 CA362561093 |
506 | S>T | No |
ClinGen gnomAD |
|
|
rs1308162029 CA362561106 |
508 | R>Q | No |
ClinGen gnomAD |
|
|
rs1279868328 CA362561113 CA362561114 |
509 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3614912 rs750113586 |
509 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA362561108 rs1333557284 |
509 | E>K | No |
ClinGen gnomAD |
|
|
rs762496778 CA3614913 |
510 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1355341165 CA362561117 |
510 | M>L | No |
ClinGen gnomAD |
|
|
rs765992785 CA3614914 |
511 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3614915 rs753249545 |
512 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778177333 CA3614917 |
515 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs376059255 CA3614919 |
517 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183026832 CA362561168 |
517 | G>V | No |
ClinGen gnomAD |
|
|
rs201687238 CA3614923 |
518 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3614924 rs780169081 |
519 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs776663624 CA3614927 |
519 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3614926 rs768623877 |
519 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3614925 rs780169081 |
519 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3614928 rs747849523 |
520 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA362561183 rs1213205392 |
520 | N>S | No |
ClinGen gnomAD |
|
|
rs769646390 CA362561190 |
521 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769646390 CA3614929 |
521 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392730588 CA362561192 |
522 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362561193 rs1392730588 |
522 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362561210 rs1329094535 |
524 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3614931 rs765972319 |
525 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455911338 CA362561215 |
525 | G>V | No |
ClinGen TOPMed |
|
|
rs761231823 CA3614933 |
527 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362561228 rs1264341416 |
527 | S>R | No |
ClinGen TOPMed |
|
|
rs761231823 CA133391759 |
527 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362561237 rs1365241896 |
528 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362561239 rs1485476146 |
529 | C>R | No |
ClinGen TOPMed |
|
|
CA362561255 rs1335336201 |
531 | M>V | No |
ClinGen gnomAD |
|
|
rs905968043 CA133391775 |
532 | A>V | No |
ClinGen Ensembl |
|
|
CA362561278 rs1481638796 |
534 | P>S | No |
ClinGen gnomAD |
|
|
CA3614936 rs201942493 |
535 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs765635910 CA3614937 |
537 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs765635910 CA3614938 |
537 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA362561302 rs1278204046 |
538 | S>T | No |
ClinGen TOPMed |
|
|
rs1213197130 CA362561308 |
539 | L>V | No |
ClinGen TOPMed |
|
|
rs758671097 CA3614939 |
542 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA362561334 rs1169170744 |
543 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3614944 rs570658290 |
547 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362561358 rs570658290 |
547 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 549 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140891639 CA133391821 |
551 | S>G | No |
ClinGen ESP TOPMed |
1 associated diseases with Q12948
[MIM: 614181]: Retinitis pigmentosa 62 (RP62)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:21825139, ECO:0000269|PubMed:21835304}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:21825139, ECO:0000269|PubMed:21835304}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| heterochromatin | A compact and highly condensed form of chromatin that is refractory to transcription. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA binding, bending | The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
56 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| apoptotic process involved in outflow tract morphogenesis | Any apoptotic process that contributes to the shaping of the outflow tract. The outflow tract is the portion of the heart through which blood flows into the arteries. |
| artery morphogenesis | The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. |
| blood vessel diameter maintenance | Any process that modulates the diameter of blood vessels. |
| blood vessel remodeling | The reorganization or renovation of existing blood vessels. |
| camera-type eye development | The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| cardiac muscle cell proliferation | The expansion of a cardiac muscle cell population by cell division. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| cellular response to chemokine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemokine stimulus. |
| cellular response to epidermal growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus. |
| cerebellum development | The process whose specific outcome is the progression of the cerebellum over time, from its formation to the mature structure. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. In mice, the cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills. |
| chemokine-mediated signaling pathway | The series of molecular signals initiated by a chemokine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| collagen fibril organization | Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. |
| embryonic heart tube development | The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field. |
| endochondral ossification | Replacement ossification wherein bone tissue replaces cartilage. |
| eye development | The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. |
| germ cell migration | The orderly movement of a cell specialized to produce haploid gametes through the embryo from its site of production to the place where the gonads will form. |
| glomerular epithelium development | The process whose specific outcome is the progression of the glomerular epithelium over time, from its formation to the mature structure. The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. |
| glycosaminoglycan metabolic process | The chemical reactions and pathways involving glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| lacrimal gland development | The process whose specific outcome is the progression of the lacrimal gland over time, from its formation to the mature structure. The lacrimal gland produces secretions that lubricate and protect the cornea of the eye. |
| lymph vessel development | The process whose specific outcome is the progression of a lymph vessel over time, from its formation to the mature structure. |
| maintenance of lens transparency | A homeostatic process in which the lens is maintained in a highly refractive, transparent state to allow for optimal focusing of light on the retina. |
| mesenchymal cell development | The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. |
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| negative regulation of apoptotic process involved in outflow tract morphogenesis | Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis. |
| negative regulation of lymphangiogenesis | Any process that stops, prevents or reduces the frequency, rate or extent of lymphangiogenesis. |
| negative regulation of mitotic cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| neural crest cell development | The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| odontogenesis of dentin-containing tooth | The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
| ovarian follicle development | The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure. |
| paraxial mesoderm formation | The process that gives rise to the paraxial mesoderm. This process pertains to the initial formation of the structure from unspecified parts. |
| positive regulation of core promoter binding | Any process that activates or increases the frequency, rate or extent of core promoter binding. |
| positive regulation of DNA binding | Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of epithelial to mesenchymal transition | Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of hematopoietic progenitor cell differentiation | Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. |
| positive regulation of hematopoietic stem cell differentiation | Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell differentiation. |
| positive regulation of keratinocyte differentiation | Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of organ growth | Any process that modulates the frequency, rate or extent of growth of an organ of an organism. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| somitogenesis | The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. |
| ureteric bud development | The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure. |
| vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| vascular endothelial growth factor signaling pathway | The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding its receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| ventricular cardiac muscle tissue morphogenesis | The process in which the anatomical structures of cardiac ventricle muscle is generated and organized. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32031 | slp2 | Fork head domain transcription factor slp2 | Drosophila melanogaster (Fruit fly) | PR |
| O15353 | FOXN1 | Forkhead box protein N1 | Homo sapiens (Human) | PR |
| Q96NZ1 | FOXN4 | Forkhead box protein N4 | Homo sapiens (Human) | PR |
| Q08050 | FOXM1 | Forkhead box protein M1 | Homo sapiens (Human) | EV |
| Q8K3Q3 | Foxn4 | Forkhead box protein N4 | Mus musculus (Mouse) | PR |
| O08696 | Foxm1 | Forkhead box protein M1 | Mus musculus (Mouse) | PR |
| Q61572 | Foxc1 | Forkhead box protein C1 | Mus musculus (Mouse) | PR |
| P97691 | Foxm1 | Forkhead box protein M1 | Rattus norvegicus (Rat) | PR |
| Q28H65 | foxn5 | Forkhead box protein N5 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A2BGM5 | foxn4 | Forkhead box protein N4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQARYSVSSP | NSLGVVPYLG | GEQSYYRAAA | AAAGGGYTAM | PAPMSVYSHP | AHAEQYPGGM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARAYGPYTPQ | PQPKDMVKPP | YSYIALITMA | IQNAPDKKIT | LNGIYQFIMD | RFPFYRDNKQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GWQNSIRHNL | SLNECFVKVP | RDDKKPGKGS | YWTLDPDSYN | MFENGSFLRR | RRRFKKKDAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KDKEEKDRLH | LKEPPPPGRQ | PPPAPPEQAD | GNAPGPQPPP | VRIQDIKTEN | GTCPSPPQPL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPAAALGSGS | AAAVPKIESP | DSSSSSLSSG | SSPPGSLPSA | RPLSLDGADS | APPPPAPSAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPHHSQGFSV | DNIMTSLRGS | PQSAAAELSS | GLLASAAASS | RAGIAPPLAL | GAYSPGQSSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YSSPCSQTSS | AGSSGGGGGG | AGAAGGAGGA | GTYHCNLQAM | SLYAAGERGG | HLQGAPGGAG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GSAVDDPLPD | YSLPPVTSSS | SSSLSHGGGG | GGGGGGQEAG | HHPAAHQGRL | TSWYLNQAGG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DLGHLASAAA | AAAAAGYPGQ | QQNFHSVREM | FESQRIGLNN | SPVNGNSSCQ | MAFPSSQSLY |
| 550 | |||||
| RTSGAFVYDC | SKF |