Q8NI60
EV
Gene name |
COQ8A |
Protein name |
Atypical kinase COQ8A, mitochondrial |
Names |
Chaperone activity of bc1 complex-like, Chaperone-ABC1-like, Coenzyme Q protein 8A, aarF domain-containing protein kinase 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56997 |
EC number |
|
Protein Class |
FAMILY NOT NAMED (PTHR43851) |
Descriptions
COQ8A is an atypical kinase involved in the biosynthesis of coenzyme Q. Autoinhibition is achieved by the N-terminal region containing KxGQ motif, which occludes the substrate binding site of the kinase domain within the same polypeptide. Mutation of A339G in A-rich loop significantly enhances selectively for ATP, and thus Ala-339 is a major structural determinant of coenzyme selectivity.
Autoinhibitory domains (AIDs)
Target domain |
295-545 (Activator of bc1 complex, ABC1, kinases, also called aarF domain containing kinase 3) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q8NI60
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4PED | X-ray | 164 A | A | 256-647 | PDB |
| 5I35 | X-ray | 230 A | A | 256-647 | PDB |
| 7UDP | X-ray | 201 A | A | 256-647 | PDB |
| 7UDQ | X-ray | 190 A | A/B | 256-647 | PDB |
| AF-Q8NI60-F1 | Predicted | AlphaFoldDB |
706 variants for Q8NI60
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs773489358 RCV001095969 CA1424929 |
39 | A>V | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA345049797 rs1572040505 RCV000995683 |
59 | Q>* | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345049914 rs778948697 RCV000660398 |
74 | G>S | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000340629 RCV000285618 CA320593 RCV000196173 RCV000513828 rs76249490 |
80 | H>Y | Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_020319 RCV000376358 RCV000676178 RCV000123535 CA289300 rs2297411 RCV000291487 |
85 | H>Q | Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1424976 rs141687205 RCV001332316 |
88 | G>V | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001195421 rs1658479678 |
95 | S>missing | Coenzyme Q10 deficiency, primary, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991500 CA1424985 RCV001097757 rs751042244 |
105 | P>Q | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765966679 CA345050148 RCV001824848 RCV000627357 |
113 | E>* | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1424995 RCV000406547 RCV000312756 rs376347405 |
120 | V>M | Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000263529 CA1425007 RCV000367533 rs760566419 RCV001288758 |
143 | G>R | Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147812454 RCV001097759 CA1425013 RCV001856319 |
156 | M>T | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000003827 RCV000598604 rs606231139 |
167 | Q>missing | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000354907 CA1425028 RCV002059449 rs181579601 RCV000300012 |
174 | T>K | Autosomal recessive ataxia due to ubiquinone deficiency Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000824898 CA1425080 rs767584322 |
213 | R>Q | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA116400 VAR_044402 rs119468005 |
213 | R>W | Coenzyme q10 deficiency, primary, 4 (coq10d4) COQ10D4 [Ensembl, UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001332317 CA321287 RCV000196870 rs372435075 |
222 | V>M | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376462712 RCV000379708 RCV000710480 CA322821 RCV000264140 |
233 | A>T | Autosomal recessive cerebellar ataxia Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000321484 rs886046065 CA10609258 RCV000383099 |
240 | E>A | Autosomal recessive ataxia due to ubiquinone deficiency Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_072622 rs145034527 CA1425162 |
271 | R>C | Coenzyme q10 deficiency, primary, 4 (coq10d4) COQ10D4 [Ensembl, UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001291993 rs1659735679 |
272 | G>C | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA116402 rs119468006 VAR_044403 |
272 | G>D | Coenzyme q10 deficiency, primary, 4 (coq10d4) COQ10D4 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs119468006 VAR_044404 CA116401 |
272 | G>V | Coenzyme q10 deficiency, primary, 4 (coq10d4) COQ10D4 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs781518112 RCV000423719 RCV000515534 CA1425169 |
277 | L>P | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001249827 rs1659738028 |
279 | Q>P | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1659738579 RCV001267871 |
282 | S>G | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760349295 RCV001101527 CA1425198 |
285 | D>A | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1425208 rs201908721 VAR_072623 |
299 | R>W | COQ10D4; decreased stability [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA1425209 rs140246430 RCV000500136 |
301 | R>W | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1425211 VAR_072624 rs778798354 |
304 | A>T | COQ10D4 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000427376 RCV000778971 RCV001782903 VAR_072625 CA1425212 rs748118737 |
304 | A>V | Autosomal recessive ataxia due to ubiquinone deficiency COQ10D4 ADCK3-Related Disorders [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA1425259 rs373971613 RCV000502514 RCV001857069 |
334 | R>W | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1085307053 RCV000490281 |
336 | F>missing | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767406263 RCV000995685 CA1425268 |
338 | A>V | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000210650 rs755933881 RCV001853374 RCV000852404 CA358149 |
339 | A>T | Mitochondrial disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000852403 CA915942042 rs1572079834 |
343 | Q>HM | Mitochondrial disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345053104 RCV001728079 rs536852535 |
352 | G>C | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000402757 RCV001850543 rs886046066 RCV000338891 CA10609260 |
354 | E>K | Autosomal recessive ataxia due to ubiquinone deficiency Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1425308 RCV000710472 RCV001332314 rs759470563 |
366 | Q>R | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001527640 rs753254213 CA1425371 RCV000427838 |
410 | R>* | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001851397 rs763311061 RCV000500170 RCV000517622 CA1425372 |
410 | R>Q | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001334064 CA1425376 rs767899984 RCV000991495 |
416 | R>H | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000381493 rs147097934 RCV000991496 RCV000329143 CA1425428 |
420 | D>N | Autosomal recessive ataxia due to ubiquinone deficiency Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs144147839 RCV000763833 VAR_072626 CA322125 RCV000197667 |
429 | Y>C | COQ10D4; decreased stability Autosomal recessive ataxia due to ubiquinone deficiency [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000193346 rs797045217 |
445 | T>missing | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751500793 RCV000623808 CA1425443 |
445 | T>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1425446 RCV001097842 rs750053661 |
448 | V>A | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000986560 RCV001869338 rs1271428051 |
453 | L>missing | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626223 rs1553280621 |
466 | E>missing | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778967806 CA1425497 RCV001097844 |
484 | F>I | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA345055742 rs1278938202 RCV000824899 |
491 | W>R | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA208527 RCV000194388 RCV001852541 rs578189699 |
511 | T>M | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_044405 rs119468008 CA116406 |
514 | Y>C | Coenzyme q10 deficiency, primary, 4 (coq10d4) COQ10D4 [Ensembl, UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs751637699 RCV000824890 RCV001593020 |
542 | I>missing | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs119468009 VAR_044406 CA116411 |
549 | G>S | Coenzyme q10 deficiency, primary, 4 (coq10d4) COQ10D4; decreased stability [Ensembl, UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_044407 CA116399 rs119468004 |
551 | E>K | Coenzyme q10 deficiency, primary, 4 (coq10d4) COQ10D4; decreased stability [Ensembl, UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs199874519 RCV000778972 RCV000482785 CA358215 RCV000210698 |
555 | M>I | Coenzyme q10 deficiency, primary, 4 (coq10d4) Autosomal recessive ataxia due to ubiquinone deficiency Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1425634 RCV001871854 rs200963031 RCV001334066 |
559 | H>Q | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000404194 RCV000342870 rs886046068 CA10610275 |
560 | L>S | Autosomal recessive ataxia due to ubiquinone deficiency Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000710478 CA1425643 RCV000364964 rs762900727 RCV000303002 |
571 | A>T | Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553281318 RCV000162171 RCV000985120 |
582 | S>missing | Autosomal recessive ataxia due to ubiquinone deficiency Cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_044408 rs387906299 |
584 | T>missing | COQ10D4 [UniProt] | Yes |
UniProt dbSNP |
|
RCV001815031 VAR_072627 rs61995958 CA1425675 RCV001253292 |
602 | P>R | Autosomal recessive ataxia due to ubiquinone deficiency COQ10D4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs201618750 RCV001332315 CA1425682 RCV000622771 |
607 | Y>* | Autosomal recessive ataxia due to ubiquinone deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000195954 RCV000778224 rs764847439 RCV000416393 |
616 | S>missing | Autosomal recessive ataxia due to ubiquinone deficiency ADCK3-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000723312 rs1558212011 |
623 | L>missing | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1425710 rs555171534 RCV001664687 RCV001101635 |
646 | Q>K | Autosomal recessive ataxia due to ubiquinone deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs750925071 CA1425712 RCV000721989 |
647 | Q>* | Coenzyme Q10 deficiency, primary, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766591347 CA1425714 RCV000721990 |
648 | Q>E | Coenzyme Q10 deficiency, primary, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749147197 CA1424904 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs202075418 RCV000200326 CA324879 |
4 | I>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA38625561 rs999819239 |
4 | I>M | No |
ClinGen Ensembl |
|
|
CA1424905 rs372487479 |
4 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1424907 rs771781610 |
7 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466683362 CA345049486 |
8 | T>A | No |
ClinGen gnomAD |
|
|
rs529609184 CA1424908 |
9 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA38625587 rs539885861 |
10 | M>L | No |
ClinGen 1000Genomes |
|
|
rs760217137 CA1424909 |
10 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1424910 rs770546950 |
12 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1424911 rs200052870 |
12 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424913 rs764577827 |
13 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs567681518 CA38625622 |
14 | G>A | No |
ClinGen Ensembl |
|
|
RCV000516337 CA38625628 rs150221608 |
17 | K>R | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA38625644 rs538203578 |
18 | L>M | No |
ClinGen gnomAD |
|
|
CA1424914 rs774521966 |
19 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750619418 CA1424917 |
21 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA324324 rs142184584 RCV000199769 |
21 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345049567 rs1316238147 |
22 | A>P | No |
ClinGen gnomAD |
|
|
CA1424919 rs778770085 |
23 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35582308 RCV000123533 RCV000676176 CA289296 |
23 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs563890550 CA1424920 |
24 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1223242512 CA345049587 |
25 | T>I | No |
ClinGen gnomAD |
|
|
rs777619147 CA1424921 |
32 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000197396 CA321854 rs552784842 |
33 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs142125927 CA1424923 |
34 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424924 rs749815821 |
35 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1424925 rs768978438 |
35 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs774811481 CA38625788 |
36 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs369961952 CA1424928 |
38 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424927 rs762117943 |
38 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs753789581 CA1424932 |
43 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs754971776 CA1424933 |
43 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252513816 CA345049711 |
45 | S>F | No |
ClinGen gnomAD |
|
|
CA345049707 rs1347944525 |
45 | S>P | No |
ClinGen TOPMed |
|
|
CA1424934 rs765033818 |
46 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs187123516 CA1424935 |
46 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345049720 rs1348574417 |
47 | A>G | No |
ClinGen TOPMed |
|
|
rs1320503257 CA345049722 |
48 | V>M | No |
ClinGen TOPMed |
|
|
CA1424936 rs372935246 |
49 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553276474 RCV000518687 |
50 | Q>missing | No |
ClinVar dbSNP |
|
|
CA38625863 rs909089215 |
51 | I>T | No |
ClinGen TOPMed |
|
|
rs1349356298 CA345049752 |
52 | G>D | No |
ClinGen gnomAD |
|
|
CA1424937 rs777709068 |
53 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA345049757 rs1209872503 |
53 | M>V | No |
ClinGen gnomAD |
|
|
rs746720374 CA1424938 |
57 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1424939 rs200123840 |
57 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345049794 rs1572040500 |
58 | V>G | No |
ClinGen Ensembl |
|
|
rs867953424 CA345049790 |
58 | V>L | No |
ClinGen gnomAD |
|
|
rs867953424 CA38625877 |
58 | V>M | No |
ClinGen gnomAD |
|
|
rs754837883 CA38628457 |
60 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs369252071 CA1424959 |
60 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369252071 CA1424958 |
60 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755645245 CA1424960 |
61 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA345049838 rs1297904224 |
63 | K>N | No |
ClinGen gnomAD |
|
|
rs1558190673 CA345049842 |
64 | H>Y | No |
ClinGen Ensembl |
|
|
CA38628459 rs961234026 |
68 | F>C | No |
ClinGen Ensembl |
|
|
CA345049874 rs1434538212 |
68 | F>I | No |
ClinGen gnomAD |
|
|
rs1169606390 CA345049882 |
69 | A>D | No |
ClinGen gnomAD |
|
|
rs1403611525 CA345049881 |
69 | A>S | No |
ClinGen gnomAD |
|
|
rs779601942 CA1424962 |
71 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244551709 CA345049908 |
73 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA38628489 rs778948697 |
74 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA345049915 rs778948697 |
74 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778137702 CA1424965 |
77 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA345049933 rs778137702 |
77 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771302737 CA1424967 |
78 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA345049942 rs1395852352 |
78 | E>G | No |
ClinGen TOPMed |
|
|
rs1006896439 CA38628498 |
79 | F>L | No |
ClinGen TOPMed |
|
|
rs565407649 CA38628503 |
80 | H>R | No |
ClinGen Ensembl |
|
|
rs1426946846 CA345049964 |
81 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1424969 rs200349511 |
81 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1572045892 CA345049975 |
83 | V>A | No |
ClinGen Ensembl |
|
|
CA345049982 rs1378553045 |
84 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345049981 rs1378553045 |
84 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV001268595 rs1658476495 |
85 | H>missing | No |
ClinVar dbSNP |
|
|
rs150377969 CA1424972 |
86 | A>V | No |
ClinGen ESP ExAC |
|
|
CA1424973 rs138572539 |
87 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1424975 rs750098045 |
88 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294639477 CA345050011 |
90 | S>A | No |
ClinGen gnomAD |
|
|
rs904762748 CA38628578 |
91 | T>I | No |
ClinGen TOPMed |
|
|
CA38628574 rs904762748 |
91 | T>R | No |
ClinGen TOPMed |
|
|
CA345050024 rs779539797 |
92 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779539797 CA1424977 |
92 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344240728 CA345050040 |
94 | S>F | No |
ClinGen gnomAD |
|
|
CA1424980 rs200000374 |
98 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424979 rs200000374 |
98 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345050074 rs1485038661 |
100 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1424983 rs150696959 |
100 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA322520 RCV000516434 rs150696959 |
100 | D>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1424984 rs775747227 |
103 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38628610 rs751042244 |
105 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576613785 CA1424986 |
108 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA38628616 rs576613785 |
108 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424987 rs201479287 |
109 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189620039 CA345050126 |
110 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1211185637 CA345050141 |
112 | S>G | No |
ClinGen TOPMed |
|
|
rs147889685 RCV000710479 CA1424990 |
112 | S>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765966679 CA1424992 RCV000517197 |
113 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345050157 rs1328698795 |
114 | G>D | No |
ClinGen TOPMed |
|
|
CA345050164 rs746577141 |
115 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA38628668 rs746577141 |
115 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs543523156 CA1424993 |
119 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345050184 rs1381984584 |
119 | Y>H | No |
ClinGen TOPMed |
|
|
CA38628671 rs543523156 |
119 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376347405 CA1424996 |
120 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1026799654 CA38628690 |
121 | A>T | No |
ClinGen Ensembl |
|
|
CA38628696 rs770421539 |
122 | S>G | No |
ClinGen Ensembl |
|
|
CA345050209 rs1435575728 |
123 | G>A | No |
ClinGen TOPMed |
|
|
CA1424998 rs781415087 |
125 | F>V | No |
ClinGen ExAC |
|
|
rs1215077379 CA345050241 |
128 | A>S | No |
ClinGen gnomAD |
|
|
CA324435 rs372953250 |
129 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1002642203 CA38628710 |
130 | F>S | No |
ClinGen Ensembl |
|
|
rs749493001 CA1425001 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774512029 CA345050263 |
132 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425003 rs774512029 |
132 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553276966 CA345050269 RCV000523096 |
133 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748036283 CA1425004 |
134 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA345050279 rs1553276975 RCV000518257 |
134 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1558191116 CA345050290 |
136 | S>F | No |
ClinGen Ensembl |
|
|
rs1365869487 CA345050296 |
137 | P>R | No |
ClinGen gnomAD |
|
|
CA345050299 rs1426158504 |
138 | L>V | No |
ClinGen gnomAD |
|
|
CA345050303 rs1426470032 |
139 | G>C | No |
ClinGen TOPMed |
|
|
rs772001983 CA1425005 |
140 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345050319 rs1442612979 |
141 | A>V | No |
ClinGen gnomAD |
|
|
CA345050325 rs1188142530 |
142 | N>S | No |
ClinGen TOPMed |
|
|
rs1000372381 CA38628794 |
147 | A>V | No |
ClinGen TOPMed |
|
|
rs866764988 CA38628802 |
149 | P>L | No |
ClinGen gnomAD |
|
|
CA320750 RCV000196337 rs863223882 |
149 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs529931757 CA1425009 |
150 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1291245003 CA345050379 |
151 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1291245003 CA345050378 |
151 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1483606713 CA345050387 |
152 | S>P | No |
ClinGen gnomAD |
|
|
CA1425010 rs759177814 |
153 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1034897733 CA38628828 |
153 | F>L | No |
ClinGen TOPMed |
|
|
CA1425011 rs764741700 |
154 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA345050404 rs1227380901 |
155 | A>P | No |
ClinGen TOPMed |
|
|
CA38628848 rs776375142 |
155 | A>V | No |
ClinGen Ensembl |
|
|
rs768023406 CA1425014 |
156 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752185427 CA38628874 |
156 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425012 rs752185427 |
156 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750877041 CA1425015 |
158 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756589820 CA345050434 |
160 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs756589820 CA1425016 |
160 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1425017 rs780563486 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345050439 rs1352757285 |
161 | R>K | No |
ClinGen gnomAD |
|
|
rs1337522636 CA345050453 |
163 | F>L | No |
ClinGen gnomAD |
|
|
CA1425019 rs373570816 |
164 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA38628956 rs755181824 |
165 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs755181824 CA1425020 |
165 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs863223883 RCV000198162 CA322647 |
166 | D>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA345050484 rs1437802131 |
167 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748206532 CA1425023 |
168 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425024 rs772022130 |
170 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345050500 rs772022130 |
170 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464006237 CA1425025 |
171 | G>R | No |
ClinGen TOPMed |
|
|
rs1464006237 CA1425026 |
171 | G>R | No |
ClinGen TOPMed |
|
|
rs1419689649 CA345050513 |
172 | G>D | No |
ClinGen TOPMed |
|
|
CA345050511 rs1419689649 |
172 | G>V | No |
ClinGen TOPMed |
|
|
CA345050516 rs1384285836 |
173 | L>F | No |
ClinGen gnomAD |
|
|
rs181579601 CA1425029 |
174 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776354118 CA323819 RCV000199287 |
176 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA345050557 rs1177101240 |
179 | E>D | No |
ClinGen gnomAD |
|
|
rs931020734 CA38629052 |
179 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs367669684 CA1425032 |
181 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374860701 CA345050574 |
182 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374860701 CA1425035 |
182 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371273838 CA1425034 |
182 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433119560 CA345050577 |
183 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs751008858 CA1425036 |
184 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1425037 rs761203099 |
187 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs910884320 CA345050604 |
187 | R>H | No |
ClinGen gnomAD |
|
|
rs910884320 CA38629070 |
187 | R>L | No |
ClinGen gnomAD |
|
|
CA1425038 rs766851213 |
188 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA345050610 rs766851213 |
188 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1425040 rs755269625 |
189 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345050611 rs755269625 |
189 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215702932 CA345050635 |
192 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779243550 CA1425042 |
193 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200762439 CA1425043 |
196 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368074800 CA1425071 |
197 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA38629480 rs866489971 |
199 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs866489971 CA38629485 |
199 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA345050698 rs1439485777 |
199 | E>V | No |
ClinGen gnomAD |
|
|
CA1425073 rs188599627 |
201 | A>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA345050709 rs188599627 |
201 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA345050717 rs145350362 |
202 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425074 rs145350362 |
202 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179795268 CA345050714 |
202 | R>W | No |
ClinGen gnomAD |
|
|
rs200541514 CA1425076 |
204 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1425075 rs540907139 |
204 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1572047766 CA345050742 |
206 | V>G | No |
ClinGen Ensembl |
|
|
CA345050737 rs1383546075 |
206 | V>M | No |
ClinGen gnomAD |
|
|
rs1476413615 CA345050748 |
207 | P>L | No |
ClinGen TOPMed |
|
|
rs764173526 RCV001815010 RCV000756975 CA1425077 |
209 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345050762 rs1326341512 |
210 | R>K | No |
ClinGen gnomAD |
|
|
CA345050774 rs1246023405 |
212 | G>S | No |
ClinGen gnomAD |
|
|
rs886042265 RCV000371553 |
213 | R>missing | No |
ClinVar dbSNP |
|
|
RCV000994271 rs119468005 CA345050780 |
213 | R>G | Coenzyme q10 deficiency, primary, 4 (coq10d4) [Ensembl] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371870568 CA38629610 |
214 | L>P | No |
ClinGen 1000Genomes |
|
|
rs371870568 CA38629605 |
214 | L>Q | No |
ClinGen 1000Genomes |
|
|
CA1425081 rs750421327 |
214 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs375627978 CA38629638 |
217 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345051135 rs868693482 |
221 | A>G | No |
ClinGen gnomAD |
|
|
CA38639792 rs868693482 |
221 | A>V | No |
ClinGen gnomAD |
|
|
rs1356952562 CA345051144 |
223 | G>D | No |
ClinGen gnomAD |
|
|
rs761981020 CA38639824 |
224 | L>V | No |
ClinGen Ensembl |
|
|
rs1465070994 CA345051155 |
225 | G>A | No |
ClinGen gnomAD |
|
|
rs529746753 CA38639831 |
226 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199694417 CA1425101 |
227 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345051164 rs199694417 |
227 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868609016 CA38639862 |
228 | A>E | No |
ClinGen Ensembl |
|
|
rs1397970616 CA345051169 |
228 | A>T | No |
ClinGen gnomAD |
|
|
rs778838121 CA1425102 |
229 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA38639897 rs866071132 |
230 | A>E | No |
ClinGen gnomAD |
|
|
CA345051182 rs866071132 |
230 | A>V | No |
ClinGen gnomAD |
|
|
CA1425104 rs758056759 |
231 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345051200 rs1558200078 |
233 | A>G | No |
ClinGen Ensembl |
|
|
CA1425105 rs746456290 |
235 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345051217 rs1279818908 |
236 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs868230685 CA38639984 |
236 | S>I | No |
ClinGen Ensembl |
|
|
CA1425106 rs770452638 |
238 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369786684 CA1425107 |
238 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867144227 CA38640028 |
239 | S>Y | No |
ClinGen Ensembl |
|
|
CA38640036 rs550525094 |
240 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1425108 rs550525094 |
240 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751309113 CA38640043 |
241 | D>H | No |
ClinGen gnomAD |
|
|
CA345051242 rs751309113 |
241 | D>N | No |
ClinGen gnomAD |
|
|
CA345051243 rs751309113 |
241 | D>Y | No |
ClinGen gnomAD |
|
|
CA1425109 rs571967614 |
242 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774643334 CA1425110 |
243 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA345051756 rs1558204954 |
244 | G>A | No |
ClinGen Ensembl |
|
|
CA345051259 rs199619932 |
244 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425111 rs199619932 |
244 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345051771 rs1464984046 |
245 | K>R | No |
ClinGen TOPMed |
|
|
CA1425140 rs751231583 |
246 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345051786 rs756881280 |
246 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425141 rs756881280 |
246 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425143 rs148376283 |
248 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345051823 rs199958142 |
249 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs762685755 CA38644382 |
250 | G>V | No |
ClinGen Ensembl |
|
|
CA345051873 rs1446203032 |
253 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1425144 rs755595528 |
253 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536447170 CA38644383 |
256 | S>P | No |
ClinGen 1000Genomes |
|
|
CA38644407 rs901628798 |
257 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs778140760 CA1425148 |
259 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1216629181 CA345051949 |
259 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1425150 rs771143366 |
261 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1425152 rs145422777 |
262 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425151 rs776595690 RCV000517665 |
262 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs769965625 CA1425153 |
263 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1425155 rs369473365 |
264 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425158 rs774133762 |
265 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345052020 rs774133762 |
265 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000991502 rs199696414 CA1425159 |
265 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1165866838 CA345052030 |
266 | T>A | No |
ClinGen TOPMed |
|
|
rs149924675 CA1425160 |
266 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425163 rs765859566 RCV001197689 |
271 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs368872986 RCV000386960 CA1425164 |
273 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345052137 rs1181291203 |
274 | A>S | No |
ClinGen TOPMed |
|
|
rs1659733643 RCV001267944 |
275 | L>missing | No |
ClinVar dbSNP |
|
|
rs1223030341 CA345052163 |
276 | K>R | No |
ClinGen TOPMed |
|
|
CA345052170 rs1198170033 |
278 | G>S | No |
ClinGen gnomAD |
|
|
CA345052195 rs1277544176 |
281 | L>Q | No |
ClinGen gnomAD |
|
|
CA345052210 rs1572077908 |
283 | I>T | No |
ClinGen Ensembl |
|
|
rs959109094 CA38644502 |
284 | Q>E | No |
ClinGen Ensembl |
|
|
CA1425170 rs376555052 |
285 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA38644961 rs958011994 |
286 | D>N | No |
ClinGen Ensembl |
|
|
rs770521319 CA1425199 |
287 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176842382 CA345052248 |
287 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200155917 CA1425204 |
292 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1425205 rs762169546 |
293 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA345052317 rs55968053 |
297 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000766351 rs756432144 CA323944 RCV000199405 |
298 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345052318 rs756432144 |
298 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964461161 CA38645036 |
299 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA345052329 rs1485270021 |
300 | V>L | No |
ClinGen Ensembl |
|
|
CA345052337 rs1243721108 |
301 | R>L | No |
ClinGen gnomAD |
|
|
CA345052354 rs778798354 |
304 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38645077 rs763592178 |
306 | F>I | No |
ClinGen Ensembl |
|
|
CA345052377 rs1461786365 |
307 | M>T | No |
ClinGen gnomAD |
|
|
rs777564457 CA1425214 |
308 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1425217 rs776413284 |
312 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1425245 rs759826134 |
317 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs759061098 RCV000991503 |
318 | N>missing | No |
ClinVar dbSNP |
|
|
CA1425246 rs765425276 |
318 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572079552 CA345052473 |
319 | D>A | No |
ClinGen Ensembl |
|
|
CA345052472 rs758539309 |
319 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425248 rs758539309 |
319 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381714573 CA345052718 |
321 | G>D | No |
ClinGen gnomAD |
|
|
rs751512366 CA1425251 |
323 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1425252 rs781073371 |
323 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425250 rs751512366 |
323 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1350444582 CA345052758 |
324 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1350444582 CA345052761 |
324 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1425254 rs778508317 |
325 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565573577 RCV000518617 RCV001857889 CA1425253 |
325 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA1425255 rs779617086 |
326 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA38645323 rs867452437 |
326 | D>N | No |
ClinGen gnomAD |
|
|
rs150243147 CA1425256 RCV000223978 RCV001640370 |
330 | Y>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1425257 rs201334858 |
331 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1425258 rs747548028 |
332 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373971613 CA1425260 |
334 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759857986 CA345052889 |
334 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759857986 CA1425261 |
334 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759857986 CA1425262 |
334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345052901 rs1178703736 |
335 | P>L | No |
ClinGen gnomAD |
|
|
rs1487879565 CA345052895 |
335 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA38645380 rs758871135 |
336 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425265 rs143816043 |
337 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370159265 CA1425267 |
338 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1425270 rs779835808 |
340 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA38645414 VAR_045576 rs55798516 |
341 | I>T | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs754633292 CA1425272 |
341 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284960660 CA345052981 |
342 | G>W | No |
ClinGen gnomAD |
|
|
CA345052991 rs1572079812 |
343 | Q>* | No |
ClinGen Ensembl |
|
|
rs1289862297 CA345053000 |
343 | Q>H | No |
ClinGen gnomAD |
|
|
CA320200 RCV000195825 rs863223884 |
343 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1425273 rs368578273 |
344 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345053023 rs1259403506 |
345 | H>R | No |
ClinGen gnomAD |
|
|
rs1197663615 CA345053049 |
347 | A>V | No |
ClinGen gnomAD |
|
|
rs771578775 CA056987 |
348 | R>* | Coenzyme q10 deficiency, primary, 4 (coq10d4) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1473665143 CA345053073 |
349 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs548317868 CA1425275 RCV000518419 |
350 | K>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1172666352 CA345053107 |
352 | G>D | No |
ClinGen gnomAD |
|
|
CA1425276 rs536852535 |
352 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000516524 rs373083392 CA1425277 |
353 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA345053118 rs763194902 |
353 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs763194902 CA1425278 |
353 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1572079951 CA345053158 |
355 | V>G | No |
ClinGen Ensembl |
|
|
rs570740109 CA1425280 |
355 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345053195 rs1276818315 |
357 | M>I | No |
ClinGen gnomAD |
|
|
rs1221027772 CA345053189 |
357 | M>T | No |
ClinGen gnomAD |
|
|
CA345053222 rs1315541657 |
358 | K>N | No |
ClinGen gnomAD |
|
|
rs1432797166 CA345053248 |
360 | Q>E | No |
ClinGen TOPMed |
|
|
rs1572080011 CA345053260 |
360 | Q>H | No |
ClinGen Ensembl |
|
|
CA38645506 rs747362587 |
360 | Q>R | No |
ClinGen Ensembl |
|
|
CA1425303 rs772046217 |
362 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772046217 CA38646088 |
362 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371269974 CA1425306 |
364 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345053454 rs1326059232 |
365 | A>T | No |
ClinGen gnomAD |
|
|
CA345053467 rs1332320114 |
365 | A>V | No |
ClinGen gnomAD |
|
|
CA345053501 rs1242101084 |
367 | S>N | No |
ClinGen gnomAD |
|
|
rs763545706 CA38646136 |
368 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs758002606 CA1425311 |
368 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425313 rs751032737 |
369 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs180784380 CA1425315 |
370 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1179877249 CA345053577 |
370 | S>R | No |
ClinGen gnomAD |
|
|
CA38646147 rs1046888041 |
373 | N>D | No |
ClinGen gnomAD |
|
|
CA38646148 rs887056395 |
373 | N>I | No |
ClinGen gnomAD |
|
|
CA1425316 rs146751657 |
374 | N>H | No |
ClinGen ESP ExAC |
|
|
rs1005452451 CA38646161 |
374 | N>S | No |
ClinGen Ensembl |
|
|
CA1425319 rs375821684 |
378 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425321 rs375821684 |
378 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375821684 CA1425320 |
378 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425322 rs747150601 |
379 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345053730 rs771129469 |
380 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1425323 rs771129469 |
380 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1012894420 CA38646185 |
381 | M>V | No |
ClinGen TOPMed |
|
|
rs1572081427 CA345053824 RCV000994273 |
384 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA38646199 rs886732633 |
386 | P>S | No |
ClinGen TOPMed |
|
|
CA38646339 rs753166346 |
388 | G>V | No |
ClinGen Ensembl |
|
|
rs1467589979 CA345054014 |
389 | L>P | No |
ClinGen TOPMed |
|
|
rs1250599573 CA345054020 |
390 | F>L | No |
ClinGen TOPMed |
|
|
rs762853525 CA345054031 |
390 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38646345 rs758919616 |
391 | P>R | No |
ClinGen Ensembl |
|
|
RCV000991494 rs760476900 CA1425351 |
392 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA1425350 rs760476900 |
392 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481683449 CA345054086 |
393 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1425352 rs17849927 |
395 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139133094 CA1425355 |
396 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765825787 CA1425353 |
396 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777934964 CA1425356 |
397 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199921339 CA38646379 |
398 | L>P | No |
ClinGen TOPMed |
|
|
CA345054182 rs1437161035 |
399 | R>T | No |
ClinGen TOPMed |
|
|
rs541836846 CA1425359 |
400 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745983452 CA1425361 |
400 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425360 rs745983452 |
400 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000436246 rs541836846 CA1425358 |
400 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA1425363 rs749174686 |
401 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425362 rs780094357 |
401 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768499518 CA1425364 |
402 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1425366 rs761489506 |
403 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs771755682 CA1425367 |
404 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38646419 rs757385972 |
405 | E>Q | No |
ClinGen Ensembl |
|
|
rs1453487075 CA732365502 |
406 | C>* | No |
ClinGen TOPMed |
|
|
rs760238739 CA1425369 |
406 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000710474 rs1254419880 CA345054269 |
407 | D>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs765804167 CA1425370 |
408 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs763311061 CA345054298 |
410 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356763229 CA345054312 |
412 | A>T | No |
ClinGen gnomAD |
|
|
rs1184311322 CA345054320 |
412 | A>V | No |
ClinGen gnomAD |
|
|
rs751932768 CA1425374 |
413 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151292389 CA1425375 |
416 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767899984 CA1425377 |
416 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572082090 CA345054382 |
418 | F>L | No |
ClinGen Ensembl |
|
|
CA345054386 rs546015164 |
419 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546015164 CA1425379 |
419 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345054970 rs1274766112 |
422 | L>P | No |
ClinGen gnomAD |
|
|
CA1425431 rs748684298 |
425 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA345055022 rs1361930991 |
426 | P>L | No |
ClinGen TOPMed |
|
|
CA38651875 rs1004253103 |
426 | P>T | No |
ClinGen Ensembl |
|
|
rs772663118 CA1425432 |
428 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1572083113 CA345055127 |
434 | V>L | No |
ClinGen Ensembl |
|
|
rs1417694025 CA345055143 |
435 | D>G | No |
ClinGen gnomAD |
|
|
CA38651890 rs962774701 |
435 | D>H | No |
ClinGen gnomAD |
|
|
rs962774701 CA345055139 |
435 | D>N | No |
ClinGen gnomAD |
|
|
CA1425434 rs771325433 |
436 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776724822 CA1425435 |
438 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1425437 rs759748589 |
439 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38651908 rs370069520 |
440 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA38651917 rs867981030 |
441 | H>Y | No |
ClinGen Ensembl |
|
|
CA1425439 rs752733827 |
442 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA345055232 rs1312867086 |
442 | V>M | No |
ClinGen gnomAD |
|
|
CA345055248 rs1558208407 |
443 | L>P | No |
ClinGen Ensembl |
|
|
rs751500793 CA345055278 |
445 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912353507 CA38651970 |
446 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs912353507 CA345055289 |
446 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA38651976 rs866648731 |
447 | L>V | No |
ClinGen Ensembl |
|
|
CA345055312 rs1256765022 |
450 | G>C | No |
ClinGen gnomAD |
|
|
CA345055319 rs755776655 |
451 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425447 rs755776655 |
451 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779737207 CA1425448 |
452 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs928509224 CA38651984 |
453 | L>P | No |
ClinGen TOPMed |
|
|
CA38651986 rs934680551 |
454 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345055348 rs1475087109 |
455 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1192007159 CA345055354 |
456 | A>V | No |
ClinGen gnomAD |
|
|
rs1558208533 CA345055355 |
457 | E>K | No |
ClinGen Ensembl |
|
|
rs1375845511 CA345055369 |
459 | L>I | No |
ClinGen TOPMed |
|
|
CA345055373 rs1433323183 |
459 | L>P | No |
ClinGen gnomAD |
|
|
rs149364914 CA1425449 |
460 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345055376 rs1361794311 |
460 | S>N | No |
ClinGen gnomAD |
|
|
CA1425450 rs149364914 |
460 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747485279 CA1425452 |
461 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA345055384 rs778213902 |
461 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1425451 rs778213902 |
461 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001196659 rs1659926175 |
462 | E>missing | No |
ClinVar dbSNP |
|
|
rs1441502129 CA345055394 |
462 | E>D | No |
ClinGen TOPMed |
|
|
rs771214775 CA345055398 |
463 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1425453 rs771214775 |
463 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1425456 rs746073593 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425454 rs139900636 |
464 | R>W | No |
ClinGen ESP gnomAD |
|
|
rs863223887 RCV000196096 CA320507 |
465 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs567318021 CA345055422 |
465 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425458 rs201134290 |
466 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1425459 rs201134290 |
466 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345055508 rs1250632443 |
467 | I>M | No |
ClinGen TOPMed |
|
|
CA345055530 rs1326582121 |
469 | Y>C | No |
ClinGen gnomAD |
|
|
CA1425483 rs767526206 |
469 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425485 rs760617836 |
470 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs200800365 CA1425487 |
470 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200800365 CA1425486 |
470 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1425491 rs757826123 |
475 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs781751337 CA1425492 |
476 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781751337 CA345055614 |
476 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12593 CA1425493 |
480 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375213085 CA1425494 |
481 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391419327 CA345055677 |
482 | F>I | No |
ClinGen TOPMed |
|
|
rs573275917 CA1425495 |
482 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345055693 rs1463222983 |
483 | H>Q | No |
ClinGen gnomAD |
|
|
CA345055686 rs1464570942 |
483 | H>Y | No |
ClinGen TOPMed |
|
|
rs895796966 CA38652319 |
484 | F>C | No |
ClinGen TOPMed |
|
|
rs748304950 CA1425498 |
484 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA345055720 rs1396339645 |
487 | T>I | No |
ClinGen gnomAD |
|
|
CA1425499 rs772044296 |
488 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1166148119 CA345055730 |
489 | P>A | No |
ClinGen TOPMed |
|
|
CA38652375 rs956004289 |
490 | N>K | No |
ClinGen gnomAD |
|
|
CA38652379 rs1004984667 |
491 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1278938202 CA345055743 |
491 | W>R | No |
ClinGen gnomAD |
|
|
CA1425501 rs150918577 |
493 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425500 rs760655614 |
493 | N>S | No |
ClinGen ExAC TOPMed |
|
|
CA1425502 rs770874364 |
494 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1425503 rs776529192 |
495 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1425504 rs759222529 |
496 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1572084657 CA345055786 |
497 | D>A | No |
ClinGen Ensembl |
|
|
CA345055789 rs1558209223 |
497 | D>E | No |
ClinGen Ensembl |
|
|
rs968699924 CA345055814 |
501 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs968699924 CA38652399 |
501 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs764989642 CA1425506 |
502 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1468482530 CA345055870 |
507 | D>E | No |
ClinGen gnomAD |
|
|
rs1057519343 CA16044183 |
508 | F>S | No |
ClinGen TOPMed |
|
|
CA1425531 rs200115323 |
512 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1425529 rs149682899 |
512 | R>W | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1029163085 CA345055900 |
513 | E>* | No |
ClinGen TOPMed |
|
|
rs779092824 CA1425533 |
513 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38652725 rs1029163085 |
513 | E>K | No |
ClinGen TOPMed |
|
|
rs755378528 CA1425532 |
513 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA38652744 rs369418069 |
514 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158238422 CA345055914 |
515 | D>G | No |
ClinGen gnomAD |
|
|
rs1158238422 CA345055915 |
515 | D>V | No |
ClinGen gnomAD |
|
|
CA38652780 rs907924794 |
516 | R>S | No |
ClinGen Ensembl |
|
|
rs758657098 CA1425535 |
516 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA1425536 rs778112327 |
517 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1425538 rs141260985 RCV000991497 |
519 | T>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345055948 rs1391323340 |
520 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345055947 rs1391323340 |
520 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345055946 rs1371574994 |
520 | D>G | No |
ClinGen gnomAD |
|
|
rs1350705959 CA345055941 |
520 | D>N | No |
ClinGen gnomAD |
|
|
CA1425540 rs745724703 |
521 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345055949 rs745724703 |
521 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA345055965 rs1270926578 |
523 | I>T | No |
ClinGen gnomAD |
|
|
CA1425542 rs147730489 |
523 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425543 rs748999967 |
524 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768334827 CA1425544 |
524 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767666963 CA1425578 |
527 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA345056002 rs1475597658 |
527 | R>K | No |
ClinGen Ensembl |
|
|
CA345056015 rs1362403533 |
529 | A>S | No |
ClinGen TOPMed |
|
|
rs200930703 CA1425581 |
531 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1425582 rs779909663 |
532 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376719882 CA345056033 |
532 | R>K | No |
ClinGen TOPMed |
|
|
rs1173612751 CA345056041 |
533 | D>A | No |
ClinGen gnomAD |
|
|
CA38653355 rs777584892 |
533 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345056042 rs1173612751 |
533 | D>V | No |
ClinGen gnomAD |
|
|
CA1425584 RCV000516776 rs201158713 |
535 | E>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs753768036 CA1425583 |
535 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1425585 rs200403220 |
536 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345056060 rs1558210108 |
536 | T>N | No |
ClinGen Ensembl |
|
|
CA345056066 rs199724504 |
537 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199724504 CA1425586 |
537 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA325439 RCV000200860 rs768524626 |
538 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA1425588 rs201331131 |
538 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254102582 CA345056076 |
539 | A>V | No |
ClinGen TOPMed |
|
|
rs1009346842 CA38653377 |
542 | I>M | No |
ClinGen Ensembl |
|
|
rs1282252939 CA345056104 |
543 | E>D | No |
ClinGen gnomAD |
|
|
CA345056097 rs1225338468 |
543 | E>K | No |
ClinGen gnomAD |
|
|
CA1425592 rs775867326 |
544 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA345056127 rs1467446356 |
546 | F>L | No |
ClinGen gnomAD |
|
|
rs1232521713 CA345056136 |
548 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs769162966 CA1425595 RCV000517554 |
548 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345056141 rs119468009 |
549 | G>C | Coenzyme q10 deficiency, primary, 4 (coq10d4) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1425597 rs767677935 |
549 | G>D | No |
ClinGen ExAC |
|
|
rs750640337 CA38653416 |
550 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA38653432 rs119468004 |
551 | E>Q | Coenzyme q10 deficiency, primary, 4 (coq10d4) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA345056161 rs1165249960 |
552 | V>A | No |
ClinGen gnomAD |
|
|
CA1425631 rs370899166 |
557 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370899166 CA345056696 |
557 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748619465 CA345056699 |
558 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs142894121 CA1425632 |
558 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1425633 rs748619465 |
558 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs902464326 RCV000710476 CA38655858 |
559 | H>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV000478671 rs200963031 CA16617078 |
559 | H>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA38655882 rs936552461 |
561 | D>G | No |
ClinGen TOPMed |
|
|
rs1199384075 CA345056724 |
562 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345056735 rs1448382498 |
564 | L>H | No |
ClinGen gnomAD |
|
|
rs773589141 CA1425636 |
565 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs895125817 CA38655890 |
566 | L>P | No |
ClinGen TOPMed |
|
|
rs1025093152 CA38655895 |
567 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV000342803 CA1425638 rs376478331 |
568 | E>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1425639 rs376478331 |
568 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376478331 CA1425640 |
568 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1425641 rs765235707 |
569 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465661045 CA345056758 |
569 | A>T | No |
ClinGen gnomAD |
|
|
CA345056768 rs1387148822 |
570 | F>C | No |
ClinGen gnomAD |
|
|
CA345056781 rs1572089312 RCV000991498 |
572 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1026198961 CA38655939 |
573 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs202058665 CA1425644 |
574 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1260803772 CA345056798 |
575 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1260803772 CA345056797 |
575 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345056814 rs1303198201 |
577 | D>V | No |
ClinGen TOPMed |
|
|
CA1425645 rs199581236 |
580 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA38655965 rs878976003 |
580 | T>S | No |
ClinGen Ensembl |
|
|
CA38655972 rs199581236 |
580 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1195283118 CA345056837 |
581 | Q>* | No |
ClinGen gnomAD |
|
|
rs767335745 CA1425647 |
581 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs772127266 RCV000368271 |
582 | S>missing | No |
ClinVar dbSNP |
|
|
CA345056843 rs1195257043 |
582 | S>G | No |
ClinGen gnomAD |
|
|
CA1425649 rs755686637 |
583 | T>S | No |
ClinGen ExAC |
|
|
CA1425650 rs779649324 |
584 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201171077 CA1425654 |
585 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395487099 CA345056862 |
585 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758986425 CA1425652 |
585 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758986425 RCV001853166 CA321718 RCV000197272 |
585 | E>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs113308613 CA1425655 |
586 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs776843168 CA1425657 |
587 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345056879 rs1392508310 |
588 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs529850796 CA1425658 |
588 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345056880 rs1392508310 |
588 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA345056886 rs142051104 |
589 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1425660 rs142051104 |
589 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA38656089 rs768634318 |
589 | N>S | No |
ClinGen gnomAD |
|
|
CA38656086 rs768634318 |
589 | N>T | No |
ClinGen gnomAD |
|
|
CA1425663 rs774142518 |
593 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177761224 CA345056923 |
595 | L>V | No |
ClinGen gnomAD |
|
|
CA1425664 rs761763037 |
596 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1181534063 CA345056936 |
597 | H>R | No |
ClinGen gnomAD |
|
|
rs750111120 CA1425666 |
597 | H>Y | No |
ClinGen ExAC |
|
|
CA1425667 rs760352291 |
598 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425668 rs766101783 |
598 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1425670 rs754436532 |
600 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349164944 CA345056960 |
601 | P>L | No |
ClinGen gnomAD |
|
|
rs61995958 RCV001093210 CA1425676 |
602 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs61995958 RCV000199828 CA324373 |
602 | P>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1558211843 CA345056969 |
603 | P>L | No |
ClinGen Ensembl |
|
|
rs1085307497 RCV000490170 |
605 | E>missing | No |
ClinVar dbSNP |
|
|
CA345056978 RCV000991499 rs1572089727 |
605 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1425680 rs768614344 |
606 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345057001 rs1253065327 |
608 | S>T | No |
ClinGen gnomAD |
|
|
rs1558211918 CA345057006 |
608 | S>Y | No |
ClinGen Ensembl |
|
|
CA1425684 rs773099108 |
609 | L>P | No |
ClinGen ExAC |
|
|
rs766117089 CA1425686 |
610 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV000676184 CA345057036 rs1553281394 |
611 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs759094737 CA1425688 |
612 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1425689 rs764594532 |
613 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425691 rs752130338 |
615 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA16044184 rs752130338 |
615 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757723063 CA1425692 |
618 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1425694 rs750833430 |
620 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA1425696 rs141725964 RCV000428320 |
626 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141725964 CA345057223 |
626 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749400284 CA1425697 |
626 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768791705 CA1425698 |
627 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553105858 CA1425699 |
628 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553105858 CA345057248 RCV000518065 |
628 | P>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1188760746 CA345057264 |
630 | K>Q | No |
ClinGen gnomAD |
|
|
rs1227598333 CA345057284 |
631 | A>D | No |
ClinGen gnomAD |
|
|
CA345057279 rs1339757723 |
631 | A>S | No |
ClinGen gnomAD |
|
|
CA38656334 rs376283800 |
632 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA345057297 rs772188310 |
632 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1425701 rs772188310 |
632 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149335528 CA345057320 |
634 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149335528 CA324100 RCV000199558 |
634 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs149335528 CA1425704 |
634 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1425706 rs776359025 |
635 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776359025 CA38656374 |
635 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770568778 CA1425705 |
635 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764835684 CA345057410 |
641 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs764835684 CA1425708 |
641 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1425709 rs773746786 |
643 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773746786 CA38656429 |
643 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38656434 rs1005704437 |
644 | Q>* | No |
ClinGen TOPMed |
|
|
CA345057438 rs1370337343 |
645 | A>G | No |
ClinGen TOPMed |
|
|
CA345057439 rs555171534 |
646 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1425711 rs761128817 |
646 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345057441 rs761128817 |
646 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38656485 rs1018503187 |
647 | Q>H | No |
ClinGen TOPMed |
|
|
rs756506218 CA1425713 |
647 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs766591347 CA1425715 |
648 | Q>Q | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q8NI60
[MIM: 612016]: Coenzyme Q10 deficiency, primary, 4 (COQ10D4)
An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. {ECO:0000269|PubMed:18319072, ECO:0000269|PubMed:18319074, ECO:0000269|PubMed:20580948, ECO:0000269|PubMed:22036850, ECO:0000269|PubMed:24048965, ECO:0000269|PubMed:24218524, ECO:0000269|PubMed:25498144, ECO:0000269|PubMed:26818466, ECO:0000269|PubMed:27106809}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. {ECO:0000269|PubMed:18319072, ECO:0000269|PubMed:18319074, ECO:0000269|PubMed:20580948, ECO:0000269|PubMed:22036850, ECO:0000269|PubMed:24048965, ECO:0000269|PubMed:24218524, ECO:0000269|PubMed:25498144, ECO:0000269|PubMed:26818466, ECO:0000269|PubMed:27106809}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR43851 | FAMILY NOT NAMED |
| PANTHER Subfamily | PTHR43851:SF1 | ATYPICAL KINASE COQ8A, MITOCHONDRIAL |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extrinsic component of mitochondrial inner membrane | The component of mitochondrial inner membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ADP binding | Binding to ADP, adenosine 5'-diphosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| ubiquinone biosynthetic process | The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P27697 | COQ8 | Atypical kinase COQ8, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| Q29RI0 | COQ8A | Atypical kinase COQ8A, mitochondrial | Bos taurus (Bovine) | SS |
| Q96D53 | COQ8B | Atypical kinase COQ8B, mitochondrial | Homo sapiens (Human) | SS |
| Q566J8 | Coq8b | Atypical kinase COQ8B, mitochondrial | Mus musculus (Mouse) | SS |
| Q60936 | Coq8a | Atypical kinase COQ8A, mitochondrial | Mus musculus (Mouse) | SS |
| Q6AY19 | Coq8b | Atypical kinase COQ8B, mitochondrial | Rattus norvegicus (Rat) | SS |
| Q5BJQ0 | Coq8a | Atypical kinase COQ8A, mitochondrial | Rattus norvegicus (Rat) | SS |
| Q18486 | coq-8 | Atypical kinase coq-8, mitochondrial | Caenorhabditis elegans | SS |
| Q9SBB2 | ABC1 | Protein ABC transporter 1, mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | SS |
| A3QJU3 | coq8b | Atypical kinase COQ8B, mitochondrial | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5RGU1 | coq8a | Atypical kinase COQ8A, mitochondrial | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAILGDTIM | VAKGLVKLTQ | AAVETHLQHL | GIGGELIMAA | RALQSTAVEQ | IGMFLGKVQG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QDKHEEYFAE | NFGGPEGEFH | FSVPHAAGAS | TDFSSASAPD | QSAPPSLGHA | HSEGPAPAYV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASGPFREAGF | PGQASSPLGR | ANGRLFANPR | DSFSAMGFQR | RFFHQDQSPV | GGLTAEDIEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARQAKARPEN | KQHKQTLSEH | ARERKVPVTR | IGRLANFGGL | AVGLGFGALA | EVAKKSLRSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPSGKKAVLG | SSPFLSEANA | ERIVRTLCKV | RGAALKLGQM | LSIQDDAFIN | PHLAKIFERV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RQSADFMPLK | QMMKTLNNDL | GPNWRDKLEY | FEERPFAAAS | IGQVHLARMK | GGREVAMKIQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YPGVAQSINS | DVNNLMAVLN | MSNMLPEGLF | PEHLIDVLRR | ELALECDYQR | EAACARKFRD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLKGHPFFYV | PEIVDELCSP | HVLTTELVSG | FPLDQAEGLS | QEIRNEICYN | ILVLCLRELF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EFHFMQTDPN | WSNFFYDPQQ | HKVALLDFGA | TREYDRSFTD | LYIQIIRAAA | DRDRETVRAK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SIEMKFLTGY | EVKVMEDAHL | DAILILGEAF | ASDEPFDFGT | QSTTEKIHNL | IPVMLRHRLV |
| 610 | 620 | 630 | 640 | ||
| PPPEETYSLH | RKMGGSFLIC | SKLKARFPCK | AMFEEAYSNY | CKRQAQQ |