O94901
SS
Gene name |
SUN1 (KIAA0810, UNC84A) |
Protein name |
SUN domain-containing protein 1 |
Names |
Protein unc-84 homolog A , Sad1/unc-84 protein-like 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23353 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
609-785 (SUN domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for O94901
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6R15 | X-ray | 182 A | A | 589-785 | PDB |
| 6R16 | X-ray | 275 A | A/B/C/D/E/F | 589-785 | PDB |
| 6R2I | X-ray | 154 A | A | 589-785 | PDB |
| 7E34 | X-ray | 319 A | C | 126-171 | PDB |
| 7Z8Y | X-ray | 229 A | A/B/C | 589-785 | PDB |
| 8AU0 | X-ray | 207 A | A/B/C | 362-401 | PDB |
| 8B46 | X-ray | 167 A | A/B/C | 589-785 | PDB |
| 8B5X | X-ray | 198 A | A/B/C | 589-785 | PDB |
| AF-O94901-F1 | Predicted | AlphaFoldDB |
725 variants for O94901
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA152389188 RCV001318108 rs199693265 |
2 | D>A | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000689087 rs149483651 CA4111352 |
5 | R>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs777969470 CA4111355 RCV000694307 |
6 | L>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373925818 RCV002528336 RCV000526025 CA4111356 |
8 | M>T | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200505697 RCV000792139 CA4111357 |
10 | S>N | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1019819580 RCV001213270 CA152397223 |
50 | R>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs772100423 CA4111398 RCV000707439 |
54 | R>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs777193403 RCV000802057 CA4111399 |
55 | S>G | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001051584 CA4111404 rs112200342 |
60 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374767640 RCV000557468 CA4111414 |
74 | D>N | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149038179 CA4111418 RCV002064836 |
76 | G>A | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4111417 rs114826023 RCV000537279 |
76 | G>C | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000549912 rs199999269 CA4111420 |
79 | S>G | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4111422 RCV001297378 rs775882448 |
80 | A>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs536171212 RCV001062171 CA4111424 |
81 | V>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs375668872 RCV000873720 CA4111426 |
86 | R>P | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000538628 CA4111461 rs78842948 |
93 | Q>P | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4111462 RCV000796708 rs112598200 |
94 | R>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs778427452 CA366546948 RCV000791891 |
109 | R>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4111472 rs183872262 RCV000636865 |
112 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374613091 CA4111475 RCV000636868 |
116 | V>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4111480 RCV000873707 rs199666815 |
120 | G>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000555793 CA4111482 rs541487561 |
121 | T>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000701915 CA366547030 rs1320668240 |
123 | S>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000636870 rs781471011 CA366547074 |
130 | R>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4111489 rs781471011 RCV000816562 |
130 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs367835809 RCV001351284 |
133 | P>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202521 rs369804846 CA4111497 |
142 | E>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs780997836 CA4111548 RCV001344114 |
157 | D>G | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1422408344 RCV001312924 |
177 | A>missing | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368473097 CA4111588 RCV000811220 |
179 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000690958 rs368907584 CA4111610 |
200 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_071065 CA4111614 rs144929525 RCV000533302 |
203 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000541341 rs774555940 CA152403602 |
219 | K>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000802343 rs774843286 |
226 | I>missing | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000530133 CA4111900 rs142011077 |
246 | W>C | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA366528960 RCV000700672 rs1562696580 |
250 | V>F | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703471 CA4111920 rs201864272 |
255 | A>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1423385703 CA366529097 RCV001295903 |
258 | G>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4111930 RCV001343897 rs565641706 |
272 | T>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001314815 COSM3394926 COSM277529 CA152351850 rs961930316 |
287 | R>* | pancreas Emery-Dreifuss muscular dystrophy large_intestine [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV002065930 rs187616677 CA4111972 |
295 | L>F | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001298587 CA4111978 rs377260468 |
300 | F>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4112017 rs774636827 RCV000808154 |
313 | N>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705553 CA366530362 rs1445945190 |
316 | S>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000701430 rs555876242 CA4112024 |
320 | V>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199719259 CA4112025 RCV000807804 |
321 | L>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002547145 rs374902623 CA4112032 RCV000689811 |
331 | R>Q | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001229016 rs770728287 CA4112037 |
340 | K>E | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000800113 CA366530727 rs1584895416 |
342 | T>A | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4112039 RCV000705968 rs544208812 |
342 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1006896977 CA152352180 RCV000526848 |
343 | T>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1452502 rs1402655652 RCV000792404 CA366530998 COSM1452503 |
358 | P>T | Emery-Dreifuss muscular dystrophy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA4112077 RCV000794206 rs779987779 |
371 | S>F | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001302625 rs1824133471 |
375 | Q>E | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4112081 RCV000878947 rs77831520 |
378 | H>R | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554263579 RCV000636864 CA366531418 |
402 | G>D | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4112098 RCV001314013 RCV002545066 rs201437034 |
406 | G>R | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770565376 CA152352748 RCV001312950 |
410 | S>A | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218477 CA4112105 rs574113932 |
414 | A>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001316459 CA4112147 rs548117640 |
424 | F>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000823687 CA366532095 rs1584946287 |
425 | M>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055336 CA4112181 rs202122012 |
454 | K>N | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA152354887 RCV001218478 rs547404802 |
458 | Q>E | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199915497 RCV001340600 CA4112188 |
464 | I>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1829005584 RCV001346345 |
502 | V>A | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369720300 CA4112291 RCV001213575 |
510 | D>E | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369117433 RCV000685419 CA4112293 |
511 | V>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs77058871 RCV000528224 CA4112301 |
527 | G>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002533752 rs549897796 CA4112306 RCV000706726 |
528 | G>C | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000819979 CA4112304 rs549897796 |
528 | G>R | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA152357945 RCV000540802 rs984369757 |
538 | S>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4112316 RCV000685888 rs751586546 |
545 | G>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs114015310 CA4112319 RCV000553412 |
549 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs777583914 RCV001225161 CA4112324 |
556 | L>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001041666 CA152358006 rs374707736 |
560 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
CA4112331 rs749673318 RCV001224753 |
562 | V>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001214382 rs1421142069 |
565 | H>N | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201804636 RCV000636862 CA4112340 |
578 | V>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000816291 CA4112344 rs200128195 COSM1196813 COSM1196814 |
583 | S>G | lung Emery-Dreifuss muscular dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000529556 rs377135952 CA4112348 |
585 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4112351 VAR_071066 rs114701323 RCV000636872 |
587 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4112354 rs374725863 RCV001207922 |
590 | I>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372947867 RCV001247028 CA4112391 |
596 | R>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4112401 rs145337558 RCV000636869 RCV002529855 |
621 | G>S | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4112422 COSM1092837 RCV001223192 rs376317036 COSM1597186 |
635 | E>K | Emery-Dreifuss muscular dystrophy endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs539468692 CA4112425 RCV001345580 |
638 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4112429 RCV001323182 rs374040275 |
641 | M>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4112436 rs747017149 RCV002562596 RCV001225047 |
652 | S>L | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs573186073 RCV001040365 CA4112438 |
653 | Q>R | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA4112486 RCV000560619 rs138051124 |
705 | N>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000536803 rs200907784 RCV002528335 CA4112491 |
715 | V>I | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4112518 rs201199820 RCV000945412 |
733 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4112522 RCV000535921 rs368333285 |
743 | M>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs189728809 RCV000876641 CA4112524 |
746 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001411265 rs200503893 CA4112547 |
751 | D>N | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4112550 rs768700424 RCV001211792 |
752 | D>N | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000795857 CA366536878 rs1221855051 |
757 | I>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs769875681 CA4112556 RCV000691769 |
761 | R>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4112566 RCV002553900 RCV001061090 rs373928196 |
782 | E>K | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755364227 RCV000692008 CA4112567 |
783 | P>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1562542721 CA366541248 |
3 | F>L | No |
ClinGen Ensembl |
|
|
CA4111354 rs370947011 |
5 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370947011 CA4111353 |
5 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1328439199 CA366541296 |
7 | H>Y | No |
ClinGen TOPMed |
|
|
CA366541308 rs1303759160 |
8 | M>V | No |
ClinGen gnomAD |
|
|
rs1222993651 CA366541330 |
9 | Y>H | No |
ClinGen gnomAD |
|
|
rs918776925 CA152389246 |
10 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs372463311 CA152389259 |
10 | S>R | No |
ClinGen Ensembl |
|
|
rs1232081746 CA366541432 |
12 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1232081746 CA366541427 |
12 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1266348019 CA366541473 |
14 | C>R | No |
ClinGen gnomAD |
|
|
CA4111360 rs377456170 |
16 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425200228 CA366541511 |
17 | E>K | No |
ClinGen gnomAD |
|
|
rs202032136 CA4111362 |
18 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169026395 CA366541564 |
19 | T>M | No |
ClinGen gnomAD |
|
|
rs1354305341 CA366541579 |
20 | G>V | No |
ClinGen gnomAD |
|
|
rs1458736598 CA366541616 |
22 | T>M | No |
ClinGen gnomAD |
|
|
rs1373324916 CA366541627 |
23 | Y>C | No |
ClinGen TOPMed |
|
|
CA4111364 rs773011374 |
23 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366541651 rs1278902056 |
24 | A>V | No |
ClinGen gnomAD |
|
|
rs1039713457 CA152389311 |
25 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366544046 rs1334690931 |
27 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4111388 rs753219957 |
29 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs765522260 CA4111387 |
29 | Y>C | No |
ClinGen ExAC |
|
|
CA152397135 rs995109673 |
32 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA366544101 rs1240613681 |
32 | D>N | No |
ClinGen gnomAD |
|
|
CA366544124 rs1348133509 |
33 | A>V | No |
ClinGen gnomAD |
|
|
rs763405287 CA366544194 |
38 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763405287 CA4111389 |
38 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584448469 CA366544313 |
43 | D>A | No |
ClinGen Ensembl |
|
|
rs940678630 CA366544323 |
43 | D>E | No |
ClinGen gnomAD |
|
|
rs1007970141 CA152397174 |
44 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1235003550 CA366544349 |
45 | V>I | No |
ClinGen gnomAD |
|
|
CA366544390 rs1158268326 |
47 | D>G | No |
ClinGen gnomAD |
|
|
rs781465045 CA4111393 |
47 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1562584939 CA366544430 |
49 | P>L | No |
ClinGen Ensembl |
|
|
rs775225289 CA152397227 |
50 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775225289 CA4111394 |
50 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366544482 rs1432880973 |
51 | M>I | No |
ClinGen gnomAD |
|
|
rs1174104817 CA366544493 |
52 | S>P | No |
ClinGen gnomAD |
|
|
CA4111395 rs754833191 |
53 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA366544514 rs1404378845 |
53 | R>H | No |
ClinGen TOPMed |
|
|
CA4111397 rs778801320 |
54 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366544524 rs778801320 |
54 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111396 rs778801320 |
54 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111400 rs746512215 |
57 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111401 rs770554143 |
57 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369029283 CA366544630 |
59 | A>V | No |
ClinGen gnomAD |
|
|
rs763491274 CA4111406 |
61 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs199540623 CA152397300 |
62 | A>S | No |
ClinGen TOPMed |
|
|
rs199540623 CA366544684 |
62 | A>T | No |
ClinGen TOPMed |
|
|
rs1436500544 CA366544734 |
64 | T>A | No |
ClinGen gnomAD |
|
|
rs1181274189 CA366544739 |
64 | T>N | No |
ClinGen gnomAD |
|
|
rs1436500544 CA366544731 |
64 | T>P | No |
ClinGen gnomAD |
|
|
rs774353215 CA4111408 |
65 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481428537 CA366544772 |
66 | G>E | No |
ClinGen gnomAD |
|
|
CA152397324 rs1001533346 |
66 | G>R | No |
ClinGen TOPMed |
|
|
rs371817690 CA4111410 |
67 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761950069 CA4111409 |
67 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4111411 rs188935423 |
68 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1393984891 CA366544856 |
69 | E>D | No |
ClinGen gnomAD |
|
|
CA366544828 rs1169650610 |
69 | E>K | No |
ClinGen gnomAD |
|
|
CA4111412 rs756364697 |
73 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1402764215 CA366544978 |
74 | D>E | No |
ClinGen gnomAD |
|
|
CA4111415 rs758464179 |
75 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs114826023 CA366545046 |
76 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4111419 rs780522800 |
78 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366545157 rs1220596892 |
80 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA152397449 rs775882448 |
80 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM390294 CA366545156 rs775882448 |
80 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA366545182 rs1584452079 |
81 | V>G | No |
ClinGen Ensembl |
|
|
rs958523590 CA152397461 |
82 | S>C | No |
ClinGen TOPMed |
|
|
rs1371294898 CA366545213 |
83 | L>P | No |
ClinGen gnomAD |
|
|
CA152397469 rs377212222 |
85 | N>I | No |
ClinGen ESP gnomAD |
|
|
rs375668872 CA4111427 |
86 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4111428 rs375668872 |
86 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371152290 CA4111430 |
87 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366546669 rs1336461378 |
89 | R>S | No |
ClinGen gnomAD |
|
|
CA366546676 rs1350232664 |
90 | T>R | No |
ClinGen TOPMed |
|
|
CA366546709 rs1393359610 |
92 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366546734 rs1335185963 |
94 | R>C | No |
ClinGen gnomAD |
|
|
rs1264882281 CA366546749 |
95 | R>G | No |
ClinGen gnomAD |
|
|
CA4111463 rs536026654 |
97 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4111464 rs536026654 |
97 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366546827 rs1203009448 |
99 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366546824 rs1203009448 |
99 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4111465 rs754552795 |
100 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs769303158 CA152401176 |
101 | A>T | No |
ClinGen Ensembl |
|
|
CA366546861 rs1175062213 |
101 | A>V | No |
ClinGen gnomAD |
|
|
rs771856676 CA152401178 |
103 | S>N | No |
ClinGen Ensembl |
|
|
rs779380234 CA4111466 |
104 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152401186 rs999120053 |
104 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366546915 rs1382342252 |
105 | N>T | No |
ClinGen TOPMed |
|
|
CA4111468 rs772702463 |
107 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs376335038 CA4111467 |
107 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778427452 CA4111469 |
109 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs747459970 CA4111470 |
111 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111471 rs771160146 |
112 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1584546641 CA366546971 |
113 | S>Y | No |
ClinGen Ensembl |
|
|
CA152401341 rs1023474662 |
118 | H>R | No |
ClinGen gnomAD |
|
|
rs6461378 CA4111476 VAR_059828 |
118 | H>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1584547167 CA366547008 |
119 | G>D | No |
ClinGen Ensembl |
|
|
CA366547005 rs1296227373 |
119 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753262058 CA4111481 |
121 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541487561 CA366547019 |
121 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366547027 rs1191063635 |
123 | S>G | No |
ClinGen gnomAD |
|
|
rs1482223758 CA366547039 |
125 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA366547046 rs778231328 |
125 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA366547042 rs1168738857 |
125 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366547043 rs1168738857 |
125 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425517419 CA366547047 |
126 | D>N | No |
ClinGen gnomAD |
|
|
rs1250884598 CA366547055 |
127 | A>T | No |
ClinGen gnomAD |
|
|
rs371837294 CA366547062 |
128 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371837294 CA4111487 |
128 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199937447 CA4111488 |
129 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404439229 CA366547072 |
130 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA366547076 rs1411580371 |
131 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4111490 rs745922989 |
131 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367835809 CA366547088 |
133 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367835809 CA4111491 |
133 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212790825 CA366547087 |
133 | P>S | No |
ClinGen gnomAD |
|
|
CA366547090 rs1423146016 |
134 | V>I | No |
ClinGen gnomAD |
|
|
rs775583098 CA4111492 |
135 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs771878466 CA4111494 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584549529 CA366547118 |
138 | S>A | No |
ClinGen Ensembl |
|
|
CA4111495 rs371548131 |
141 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4111496 rs377272999 |
141 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776271425 CA366547156 |
143 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389937089 CA366547150 |
143 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1359280063 CA366547187 |
148 | H>R | No |
ClinGen TOPMed |
|
|
CA366547186 rs1562615990 |
148 | H>Y | No |
ClinGen Ensembl |
|
|
CA4111504 rs543987714 |
150 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1442215892 CA366548041 |
151 | G>D | No |
ClinGen gnomAD |
|
|
CA366548048 rs1442215892 |
151 | G>V | No |
ClinGen gnomAD |
|
|
rs1205420873 CA366548051 |
152 | L>F | No |
ClinGen gnomAD |
|
|
rs200622779 CA4111543 |
154 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4111544 rs200622779 |
154 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366548150 rs1489006614 |
155 | D>G | No |
ClinGen TOPMed |
|
|
CA152403027 rs779108386 |
155 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4111545 rs779108386 |
155 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770652500 CA4111547 |
156 | G>D | No |
ClinGen ExAC TOPMed |
|
|
CA4111546 rs552059035 |
156 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1174271854 CA366548215 |
158 | L>F | No |
ClinGen gnomAD |
|
|
rs1272270215 CA366548326 |
161 | G>E | No |
ClinGen gnomAD |
|
|
CA152403252 rs913694553 |
162 | N>K | No |
ClinGen TOPMed |
|
|
CA4111568 rs769687950 |
165 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4111569 rs769687950 |
165 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201949393 CA4111570 |
166 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266827104 CA366548368 |
168 | G>R | No |
ClinGen gnomAD |
|
|
CA366548379 rs1447501362 |
169 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366548378 rs1447501362 |
169 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4111573 rs537431677 |
170 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374699982 CA4111572 |
170 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201010641 CA152403286 |
172 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs773513131 CA4111575 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA152403312 rs376602891 |
175 | A>D | No |
ClinGen gnomAD |
|
|
CA366548410 rs766591405 |
175 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111577 rs766591405 |
175 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759995296 CA4111579 |
176 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA4111580 rs765339998 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372973764 CA4111583 |
177 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4111582 rs372973764 |
177 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366548420 rs1242962293 |
177 | A>V | No |
ClinGen gnomAD |
|
|
rs755954145 CA4111585 |
178 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751667155 CA4111584 |
178 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs200430189 CA4111587 |
179 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs571007248 CA4111590 |
180 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA152403352 rs961412777 |
180 | H>Y | No |
ClinGen Ensembl |
|
|
rs771412888 CA4111591 |
181 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs746593009 CA4111593 |
182 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111595 rs776947421 |
185 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366548467 rs1387127156 |
185 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1257619699 CA366548489 |
187 | N>K | No |
ClinGen TOPMed |
|
|
CA4111596 rs558976493 |
188 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA152403413 rs558976493 |
188 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1385522559 CA366548509 |
189 | S>N | No |
ClinGen gnomAD |
|
|
rs375334727 CA4111597 |
190 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152403423 rs932480227 |
190 | M>T | No |
ClinGen Ensembl |
|
|
CA4111598 rs375334727 |
190 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4111601 rs751832513 |
193 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369326753 CA4111602 |
194 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1267029 COSM1267030 CA366548579 COSM1267031 rs369326753 |
194 | R>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4111605 rs116520953 |
197 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116520953 CA4111604 |
197 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778995671 CA4111606 |
198 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747974521 CA4111607 |
199 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA366548662 rs1178967135 |
201 | H>R | No |
ClinGen gnomAD |
|
|
CA4111613 rs370867004 |
203 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152403520 rs17851051 |
204 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs17851051 CA4111616 |
204 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA366548718 rs1562628779 |
204 | A>V | No |
ClinGen Ensembl |
|
|
rs912561766 CA152403530 |
205 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4111619 rs375261890 |
206 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539058781 CA4111621 |
208 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759413599 CA4111623 |
209 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759413599 CA4111622 |
209 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777389941 CA4111626 |
211 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs574207479 CA152403588 |
212 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA366548859 rs574207479 |
212 | Y>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4111628 rs756972772 |
215 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780828705 CA4111629 |
216 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs780828705 CA4111630 |
216 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA4111631 rs770167481 |
218 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366528658 rs1229978450 |
220 | C>Y | No |
ClinGen gnomAD |
|
|
CA4111873 rs749218098 |
221 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs768636240 CA4111874 |
222 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs761634589 CA4111877 |
226 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs772936422 CA4111879 |
228 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111880 rs773328901 |
228 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773328901 CA366528749 |
228 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760100798 CA4111883 |
229 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374025187 CA4111882 |
229 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366528762 rs1183797348 |
230 | I>V | No |
ClinGen TOPMed |
|
|
CA4111885 rs753073325 |
231 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111886 rs181988140 |
232 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377582591 CA4111888 |
233 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4111887 rs377582591 |
233 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1304510672 CA366528814 |
235 | Q>R | No |
ClinGen gnomAD |
|
|
CA4111889 rs757486655 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366528824 rs1233463953 |
236 | A>V | No |
ClinGen gnomAD |
|
|
CA366528834 rs1209503410 |
237 | V>A | No |
ClinGen gnomAD |
|
|
CA4111890 rs781317972 |
237 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4111891 rs745995124 |
238 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879232845 CA152351022 |
239 | R>G | No |
ClinGen gnomAD |
|
|
rs768547963 CA4111892 |
240 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4111894 rs369311027 |
241 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772952310 CA4111896 |
242 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA366528897 rs372849423 |
243 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4111897 rs372849423 |
243 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431484640 CA366528900 |
244 | A>P | No |
ClinGen gnomAD |
|
|
rs377094306 CA4111899 |
245 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366528929 rs1368322510 |
247 | L>M | No |
ClinGen gnomAD |
|
|
rs1233200646 CA366528934 |
247 | L>P | No |
ClinGen gnomAD |
|
|
CA366528931 rs1368322510 |
247 | L>V | No |
ClinGen gnomAD |
|
|
rs765792622 CA4111901 |
248 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA366528942 rs1393440678 |
248 | A>V | No |
ClinGen TOPMed |
|
|
CA4111903 rs75110306 |
249 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366528965 rs1584857571 |
250 | V>G | No |
ClinGen Ensembl |
|
|
rs1250094037 CA366528984 |
253 | G>R | No |
ClinGen gnomAD |
|
|
CA4111921 rs775206908 |
256 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4111922 rs775206908 |
256 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764555936 CA4111923 |
257 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs774744172 CA4111924 |
259 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305514914 CA366529099 |
259 | V>M | No |
ClinGen TOPMed |
|
|
CA366529118 rs1261213662 |
260 | F>L | No |
ClinGen gnomAD |
|
|
rs767674375 CA4111926 |
261 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1166849889 CA366529139 |
262 | W>* | No |
ClinGen gnomAD |
|
|
CA152351436 rs927098358 |
265 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366529212 rs1428293057 |
268 | Y>C | No |
ClinGen gnomAD |
|
|
rs1390367073 CA366529207 |
268 | Y>D | No |
ClinGen gnomAD |
|
|
rs1160003034 CA366529225 |
269 | Q>L | No |
ClinGen TOPMed |
|
|
CA366529223 rs1160003034 |
269 | Q>R | No |
ClinGen TOPMed |
|
|
rs1313914254 CA366529265 |
273 | L>S | No |
ClinGen Ensembl |
|
|
rs758327809 CA4111931 |
275 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4111933 rs746771853 |
276 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs777605542 CA4111932 |
276 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4111934 rs757132946 |
277 | L>V | No |
ClinGen ExAC |
|
|
rs761308195 CA4111935 |
278 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1241533008 CA366529373 |
279 | V>L | No |
ClinGen gnomAD |
|
|
CA366529395 rs1189930991 |
282 | L>P | No |
ClinGen gnomAD |
|
|
CA366529401 rs1374759613 |
283 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4111964 rs765200183 |
287 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111965 rs758027769 |
289 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA366529453 rs773538644 |
289 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4111966 rs758027769 |
289 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4111969 rs373974517 |
291 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759595914 CA4111971 |
295 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228999100 CA366529499 |
296 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs761818422 CA4111974 |
299 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761818422 CA4111975 |
299 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4111977 rs755993879 |
300 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4111976 rs371348168 |
300 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781390393 CA4112011 |
305 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4112010 rs757841110 |
305 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1163283253 CA366530217 |
306 | L>F | No |
ClinGen gnomAD |
|
|
CA366530231 COSM1150771 COSM747630 rs1383058088 |
307 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769867128 CA4112013 |
309 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775875810 CA4112014 |
310 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1429883803 CA366530271 |
310 | G>R | No |
ClinGen gnomAD |
|
|
CA366530284 rs373407857 |
311 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4112015 rs373407857 |
311 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4112016 rs768858283 |
312 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867180336 CA152352059 |
314 | F>L | No |
ClinGen gnomAD |
|
|
CA4112019 CA4112018 rs760512224 |
315 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990569721 CA152352072 |
316 | S>P | No |
ClinGen gnomAD |
|
|
rs759401895 CA4112021 |
317 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376321452 CA366530379 |
318 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764741328 CA4112022 |
319 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs555876242 CA366530402 |
320 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366530419 rs1428837824 |
321 | L>V | No |
ClinGen TOPMed |
|
|
rs911544179 CA152352124 |
324 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1400160637 CA366530474 |
324 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757673047 CA4112027 |
326 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA366530501 rs1357277229 |
326 | M>V | No |
ClinGen gnomAD |
|
|
COSM1597209 COSM1092793 rs1584894349 CA366530536 |
328 | R>I | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs781737978 CA4112028 |
328 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112029 rs750701709 |
329 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA366530571 rs1393801513 |
330 | Q>R | No |
ClinGen TOPMed |
|
|
CA4112031 rs780354568 |
331 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366530582 rs1200516966 |
332 | V>M | No |
ClinGen gnomAD |
|
|
rs1584894800 CA366530618 |
334 | D>G | No |
ClinGen Ensembl |
|
|
rs1257200305 CA366530631 |
335 | P>T | No |
ClinGen gnomAD |
|
|
CA152352154 rs913617662 |
337 | D>A | No |
ClinGen TOPMed |
|
|
rs1484674957 CA366530680 |
338 | V>A | No |
ClinGen TOPMed |
|
|
CA4112036 rs748294659 |
338 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362256456 CA366530686 |
339 | F>L | No |
ClinGen gnomAD |
|
|
rs1584895269 CA366530710 |
340 | K>N | No |
ClinGen Ensembl |
|
|
rs1289694372 CA366530716 |
341 | P>S | No |
ClinGen gnomAD |
|
|
rs544208812 CA4112040 |
342 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374671919 CA4112042 |
345 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368549213 CA152352187 |
345 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4112043 rs368549213 |
345 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750993586 CA4112044 |
349 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152352594 rs1020606766 |
352 | G>D | No |
ClinGen TOPMed |
|
|
CA4112069 rs754209891 |
354 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755410616 CA4112070 |
354 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755410616 CA152352597 |
354 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112071 rs376208237 |
358 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262518624 CA366531017 |
359 | W>S | No |
ClinGen gnomAD |
|
|
CA366531047 rs1196001871 |
361 | W>* | No |
ClinGen TOPMed |
|
|
CA366531066 rs1430178204 |
362 | M>T | No |
ClinGen gnomAD |
|
|
CA4112073 rs758607090 |
363 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760059515 CA152352620 |
365 | V>M | No |
ClinGen TOPMed |
|
|
CA152352623 rs369150199 |
366 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA4112075 rs747100104 |
367 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs756006692 CA4112076 |
369 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1584907700 CA366531161 |
369 | V>M | No |
ClinGen Ensembl |
|
|
rs779987779 CA366531191 |
371 | S>C | No |
ClinGen ExAC |
|
|
CA366531196 rs749022859 |
372 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366531213 rs1460659787 |
373 | S>F | No |
ClinGen gnomAD |
|
|
rs372553774 CA4112080 |
375 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1003340969 CA152352640 |
376 | C>Y | No |
ClinGen gnomAD |
|
|
rs1481087028 CA366531251 |
377 | H>D | No |
ClinGen gnomAD |
|
|
rs1218816593 CA366531253 |
377 | H>R | No |
ClinGen TOPMed |
|
|
CA4112082 rs771668059 |
379 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772745426 CA4112083 |
380 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1221125460 CA366531299 |
384 | R>* | No |
ClinGen gnomAD |
|
|
rs764780487 CA4112084 |
384 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA366531311 rs1486910034 |
386 | L>M | No |
ClinGen gnomAD |
|
|
CA4112085 rs766938748 |
387 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766938748 CA366531319 |
387 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777283916 CA4112086 |
388 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777283916 CA366531321 |
388 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407983477 CA366531329 |
389 | L>S | No |
ClinGen TOPMed |
|
|
CA4112087 rs760190946 |
390 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA366531351 rs1159891820 |
392 | K>N | No |
ClinGen gnomAD |
|
|
rs1460543389 CA366531371 |
395 | A>V | No |
ClinGen gnomAD |
|
|
rs368932237 CA366531374 |
396 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4112089 rs368932237 |
396 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4112088 rs752194020 COSM1643410 COSM1643411 |
396 | R>W | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA366531380 rs1584909407 |
397 | V>G | No |
ClinGen Ensembl |
|
|
rs1450963300 CA366531381 |
398 | D>N | No |
ClinGen gnomAD |
|
|
rs1287838591 CA366531391 |
399 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1584909711 CA366531397 |
400 | M>L | No |
ClinGen Ensembl |
|
|
rs532151990 CA4112091 |
403 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779899978 CA366531427 |
404 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757340477 CA366531426 |
404 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112093 rs757340477 |
404 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779899978 CA4112094 |
404 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112096 rs749218080 |
405 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371053179 CA152352716 |
405 | A>T | No |
ClinGen Ensembl |
|
|
CA4112095 rs749218080 |
405 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779427205 CA152352734 |
406 | G>A | No |
ClinGen Ensembl |
|
|
rs771711877 CA366531440 |
407 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366531439 rs771711877 |
407 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112099 rs771711877 |
407 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472323839 CA366531448 |
409 | A>P | No |
ClinGen gnomAD |
|
|
CA4112101 rs746454768 |
409 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs963866352 CA152352753 |
410 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4112102 rs770565376 |
410 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA366531481 rs1315399495 |
415 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4112106 rs775886936 |
416 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs763250661 CA4112107 |
417 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs543211493 CA4112109 |
418 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750547703 CA4112112 |
419 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4112111 rs767570232 |
419 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA366531522 rs1204946603 |
421 | E>D | No |
ClinGen gnomAD |
|
|
CA152353848 rs368576552 |
422 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4112146 rs368576552 |
422 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366532059 rs1225253022 |
423 | D>G | No |
ClinGen gnomAD |
|
|
rs762193219 CA4112149 |
424 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112148 rs548117640 |
424 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366532084 rs1211458603 |
425 | M>V | No |
ClinGen gnomAD |
|
|
CA4112153 rs766358224 |
433 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193306641 COSM1092795 CA366532221 COSM1597207 |
434 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1193306641 CA366532219 |
434 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4112154 rs776823974 |
434 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366532236 rs1239779946 |
435 | M>I | No |
ClinGen TOPMed |
|
|
CA366532230 rs1285030356 |
435 | M>V | No |
ClinGen TOPMed |
|
|
rs1442882053 CA366532243 |
436 | S>* | No |
ClinGen gnomAD |
|
|
COSM1316709 rs202208773 CA4112156 COSM1316710 |
438 | L>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs372454766 CA4112155 |
438 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA366532278 rs1161710635 |
441 | I>T | No |
ClinGen gnomAD |
|
|
CA366532293 rs1401337528 |
444 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA366532298 rs1330556777 |
444 | K>N | No |
ClinGen TOPMed |
|
|
rs1386134462 CA366532304 |
445 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA152353936 rs931971070 |
446 | R>T | No |
ClinGen Ensembl |
|
|
CA366532355 rs1335506099 |
451 | A>S | No |
ClinGen TOPMed |
|
|
CA366532364 rs1306393740 |
452 | I>T | No |
ClinGen gnomAD |
|
|
rs1402307073 CA366532360 |
452 | I>V | No |
ClinGen gnomAD |
|
|
rs1394867906 CA366532395 |
457 | E>Q | No |
ClinGen TOPMed |
|
|
CA4112185 rs200496541 |
460 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758955338 CA366532442 |
463 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4112187 rs758955338 |
463 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4112227 rs764905524 |
466 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191867046 CA366532890 |
467 | V>A | No |
ClinGen TOPMed |
|
|
rs764443174 CA4112230 |
468 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4112231 rs752103766 |
470 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA366532909 rs1191157675 |
470 | Q>R | No |
ClinGen gnomAD |
|
|
rs757764937 CA4112233 |
472 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895813039 CA152356190 |
473 | P>A | No |
ClinGen gnomAD |
|
|
CA366532927 rs781596220 |
474 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112235 rs571577552 |
474 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781596220 CA4112234 |
474 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112240 rs778924811 |
476 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4112239 rs59910530 |
476 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366532940 rs778924811 |
476 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs746945580 CA4112241 |
478 | L>V | No |
ClinGen ExAC |
|
|
CA4112242 rs565714490 |
480 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366532969 rs1315081574 |
481 | E>Q | No |
ClinGen gnomAD |
|
|
CA152356248 rs1014185065 |
483 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769379867 CA366532993 CA4112245 |
484 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4112244 rs745689551 |
484 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4112247 rs762581495 |
486 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA366533013 rs1485860057 |
488 | E>Q | No |
ClinGen gnomAD |
|
|
CA366533017 rs1183432776 |
488 | E>V | No |
ClinGen gnomAD |
|
|
CA366533021 rs1280462941 |
489 | L>V | No |
ClinGen gnomAD |
|
|
CA366533030 rs1422953482 |
490 | S>F | No |
ClinGen gnomAD |
|
|
CA366533035 rs1259936780 |
491 | S>N | No |
ClinGen Ensembl |
|
|
CA366533059 rs1159119275 |
493 | R>* | No |
ClinGen gnomAD |
|
|
CA366533063 rs763647876 |
493 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112248 rs763647876 |
493 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112249 rs773780772 |
494 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366533074 rs773780772 |
494 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112250 rs773780772 |
494 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750763397 CA4112252 |
495 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763364681 CA4112255 |
498 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395685595 CA366533159 |
501 | T>I | No |
ClinGen gnomAD |
|
|
CA366533162 rs1562756597 |
502 | V>M | No |
ClinGen Ensembl |
|
|
rs755211811 CA4112256 |
504 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755211811 CA4112257 |
504 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4112260 rs371879209 |
505 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366533216 rs769575476 |
506 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112262 rs769575476 |
506 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211973516 CA366533218 |
506 | Q>R | No |
ClinGen gnomAD |
|
|
CA4112263 rs775324610 |
507 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748950727 CA4112264 |
508 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs201410016 CA4112265 |
508 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366533404 rs1585074967 |
509 | V>A | No |
ClinGen Ensembl |
|
|
rs183952488 CA4112289 |
509 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171905949 CA366533408 |
510 | D>A | No |
ClinGen gnomAD |
|
|
rs1171905949 CA366533409 |
510 | D>G | No |
ClinGen gnomAD |
|
|
CA366533416 rs1487021466 |
511 | V>G | No |
ClinGen TOPMed |
|
|
CA366533417 rs1288152145 |
512 | Q>* | No |
ClinGen TOPMed |
|
|
rs752861647 CA4112294 |
514 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA366533432 rs1205663737 |
514 | R>I | No |
ClinGen TOPMed |
|
|
rs1395348185 CA366533454 |
517 | V>M | No |
ClinGen gnomAD |
|
|
rs1366892549 CA366533481 |
521 | F>V | No |
ClinGen gnomAD |
|
|
rs764139344 CA4112297 |
522 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756002684 CA4112299 |
523 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382420030 CA366533501 |
524 | D>Y | No |
ClinGen gnomAD |
|
|
rs568352848 CA4112300 |
525 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273226652 CA366533516 |
526 | Q>* | No |
ClinGen gnomAD |
|
|
rs1478027891 CA366533528 |
528 | G>A | No |
ClinGen gnomAD |
|
|
CA4112305 rs549897796 |
528 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746542187 CA4112307 |
529 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4112309 rs200847401 |
531 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4112308 rs200847401 |
531 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1476939408 CA366533546 |
532 | Q>K | No |
ClinGen gnomAD |
|
|
CA366533551 rs1284507439 |
532 | Q>L | No |
ClinGen gnomAD |
|
|
CA4112310 rs538639219 |
533 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1414856610 CA366533559 |
534 | L>M | No |
ClinGen gnomAD |
|
|
rs770044999 CA4112311 |
534 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs952973874 CA152357940 |
538 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs952973874 CA366533586 |
538 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1299756990 CA366533595 |
539 | S>L | No |
ClinGen gnomAD |
|
|
CA152357953 rs376696695 |
540 | Q>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1237039503 CA366533606 |
541 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4112314 rs369638708 |
541 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374075489 CA4112315 |
541 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226113764 CA366533622 |
543 | S>R | No |
ClinGen gnomAD |
|
|
CA4112318 rs755220201 |
546 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369265508 CA366533670 |
550 | M>I | No |
ClinGen gnomAD |
|
|
CA366533667 rs1193464924 |
550 | M>T | No |
ClinGen gnomAD |
|
|
rs866725015 CA152357980 |
552 | R>* | No |
ClinGen Ensembl |
|
|
rs779036128 CA4112321 |
552 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1585077653 CA366533685 |
553 | D>A | No |
ClinGen Ensembl |
|
|
CA366533687 rs752578715 |
553 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758077220 CA4112323 |
554 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1272020836 CA366533694 |
555 | Q>* | No |
ClinGen TOPMed |
|
|
rs370324367 CA4112327 |
559 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4112329 rs770376876 |
560 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4112332 rs749673318 |
562 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216257378 CA366533758 |
565 | H>Q | No |
ClinGen gnomAD |
|
|
rs1421142069 CA366533754 |
565 | H>Y | No |
ClinGen TOPMed |
|
|
rs910379771 CA152358014 |
566 | V>I | No |
ClinGen TOPMed |
|
|
COSM1452545 CA4112335 rs537139636 COSM1452544 |
568 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4112336 rs767481449 |
570 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA366533791 rs1440373844 |
571 | Q>* | No |
ClinGen gnomAD |
|
|
rs1180654699 CA366533795 |
571 | Q>H | No |
ClinGen gnomAD |
|
|
rs1235719791 CA366533797 |
572 | L>F | No |
ClinGen TOPMed |
|
|
CA366533801 rs1378401176 |
572 | L>R | No |
ClinGen gnomAD |
|
|
CA366533808 rs1172891471 |
573 | P>L | No |
ClinGen gnomAD |
|
|
rs1412581570 CA366533810 |
574 | T>A | No |
ClinGen gnomAD |
|
|
rs1237375665 CA366533813 |
574 | T>I | No |
ClinGen TOPMed |
|
|
rs201804636 CA4112339 |
578 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4112341 rs758273438 |
579 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1351693034 CA366533840 |
579 | V>M | No |
ClinGen Ensembl |
|
|
rs374140102 CA152358056 |
582 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA4112343 rs751248118 |
582 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4112346 rs577114204 |
584 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366533875 rs756527187 |
585 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4112347 rs756527187 |
585 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769000041 CA4112350 |
586 | G>E | No |
ClinGen ExAC TOPMed |
|
|
rs1445000155 CA366533883 |
587 | A>T | No |
ClinGen TOPMed |
|
|
CA366533906 rs1585079982 |
591 | T>A | No |
ClinGen Ensembl |
|
|
CA4112355 rs760823018 |
591 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA152358127 rs952938105 |
593 | A>S | No |
ClinGen Ensembl |
|
|
COSM1092824 CA4112357 rs765019636 COSM1597192 |
593 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4112389 rs752939049 |
596 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372947867 CA4112390 |
596 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747232502 CA4112392 |
598 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112394 rs781384992 |
599 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112395 rs781384992 |
599 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366534234 rs1163475842 |
601 | S>N | No |
ClinGen gnomAD |
|
|
CA366534235 rs1163475842 |
601 | S>T | No |
ClinGen gnomAD |
|
|
CA366534278 rs1402234247 |
607 | S>F | No |
ClinGen gnomAD |
|
|
CA4112396 rs768660012 |
611 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA366534488 rs1175398478 |
621 | G>A | No |
ClinGen TOPMed |
|
|
rs1211998226 CA366534716 |
625 | I>V | No |
ClinGen gnomAD |
|
|
rs373401176 CA4112419 |
627 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373401176 CA366534732 |
627 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs986974243 CA152361626 |
628 | T>A | No |
ClinGen TOPMed |
|
|
CA366534743 rs1460651781 |
629 | R>C | No |
ClinGen gnomAD |
|
|
rs1198715592 CA366534744 |
629 | R>H | No |
ClinGen gnomAD |
|
|
CA366534760 rs1218405293 |
631 | S>F | No |
ClinGen TOPMed |
|
|
rs770512687 CA4112421 |
634 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112423 rs201361158 |
636 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4112424 rs539468692 |
638 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366534805 rs539468692 |
638 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4112427 rs537612139 |
639 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112430 rs750658890 |
641 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152361658 rs914879627 |
644 | F>C | No |
ClinGen Ensembl |
|
|
CA152361661 rs946366343 |
644 | F>L | No |
ClinGen TOPMed |
|
|
rs756450543 CA366534859 |
647 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112431 rs756450543 |
647 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366534856 rs1464635034 |
647 | P>S | No |
ClinGen TOPMed |
|
|
rs1220739781 CA366534861 |
648 | L>V | No |
ClinGen gnomAD |
|
|
rs1261560295 CA366534870 COSM1672993 COSM1672992 |
649 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4112434 rs758307127 COSM1672993 COSM1672992 |
649 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs745489333 CA366534899 |
653 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112440 rs769366660 |
655 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1193272206 CA366534911 |
655 | P>L | No |
ClinGen gnomAD |
|
|
rs762387881 CA4112442 |
656 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1144655 rs769143587 CA4112443 COSM602866 |
656 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366534919 rs1328270527 |
657 | V>A | No |
ClinGen gnomAD |
|
|
rs200844322 CA4112445 |
657 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366534929 rs1315993891 |
659 | I>T | No |
ClinGen TOPMed |
|
|
CA152361709 rs894990517 |
659 | I>V | No |
ClinGen Ensembl |
|
|
CA152361713 rs370221617 |
660 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs753994618 CA4112469 |
663 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA366535053 rs1313378384 |
674 | S>F | No |
ClinGen TOPMed |
|
|
rs781122957 CA4112476 |
675 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA366535076 rs1462117712 |
678 | L>V | No |
ClinGen TOPMed |
|
|
rs61744747 CA366535097 |
681 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs933428121 CA152366999 |
684 | M>V | No |
ClinGen gnomAD |
|
|
CA366535120 rs1449743599 |
685 | M>V | No |
ClinGen gnomAD |
|
|
rs755860211 CA4112478 |
686 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032155985 CA152367004 |
688 | P>A | No |
ClinGen TOPMed |
|
|
CA366535152 rs1241560970 |
689 | A>G | No |
ClinGen gnomAD |
|
|
CA366535151 rs1241560970 |
689 | A>V | No |
ClinGen gnomAD |
|
|
CA4112480 rs748866016 |
690 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768393163 CA4112481 |
692 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219148966 CA366535171 |
693 | L>M | No |
ClinGen Ensembl |
|
|
rs1562835570 CA366535199 |
697 | P>S | No |
ClinGen Ensembl |
|
|
CA4112483 rs542993409 |
699 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366535225 rs1430262062 |
701 | S>A | No |
ClinGen gnomAD |
|
|
rs1340913657 CA366535234 |
702 | P>L | No |
ClinGen gnomAD |
|
|
CA366535239 rs1362013228 |
703 | T>R | No |
ClinGen gnomAD |
|
|
rs373518804 CA4112487 |
707 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366535302 rs1467957722 |
712 | D>E | No |
ClinGen gnomAD |
|
|
CA152367034 rs370879168 |
713 | F>C | No |
ClinGen ESP |
|
|
CA4112489 rs759639292 |
714 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763028622 CA4112492 |
716 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA366535806 rs1421334223 |
719 | E>D | No |
ClinGen gnomAD |
|
|
CA366535798 rs1362649662 |
719 | E>Q | No |
ClinGen gnomAD |
|
|
rs1585409458 CA366535808 |
720 | N>D | No |
ClinGen Ensembl |
|
|
CA152368543 rs996720559 |
721 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1047648550 CA152368540 |
721 | E>K | No |
ClinGen TOPMed |
|
|
rs1047648550 CA366535815 |
721 | E>Q | No |
ClinGen TOPMed |
|
|
rs534832884 CA4112517 |
723 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA152368545 rs534832884 |
723 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA152368550 rs1028817172 |
724 | E>G | No |
ClinGen gnomAD |
|
|
rs887436137 CA152368548 |
724 | E>K | No |
ClinGen TOPMed |
|
|
CA366535841 rs1164289751 |
725 | E>K | No |
ClinGen gnomAD |
|
|
rs1341341793 CA366535921 |
735 | D>G | No |
ClinGen gnomAD |
|
|
rs1031687897 CA152368555 |
735 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4112523 CA366536007 rs746448753 |
743 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366536020 rs1357278280 |
745 | Q>* | No |
ClinGen gnomAD |
|
|
CA366536032 rs1221447606 |
746 | A>T | No |
ClinGen gnomAD |
|
|
CA4112545 rs780629087 |
748 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152368978 rs1015118554 |
749 | R>T | No |
ClinGen Ensembl |
|
|
rs948241783 CA152368981 |
750 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs948241783 CA366536766 |
750 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373404030 CA4112548 |
751 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4112551 rs779198466 |
752 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs748383783 CA4112552 |
753 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA152368998 rs953733939 |
754 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA366536822 rs953733939 |
754 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA152369004 rs377414777 |
757 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA4112554 rs773213993 |
759 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM485702 COSM1137768 rs199515429 CA4112557 |
761 | R>Q | kidney endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762848702 CA366537011 |
766 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4112558 rs762848702 |
766 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366537063 rs1585435592 |
768 | H>D | No |
ClinGen Ensembl |
|
|
CA366537085 rs1585435639 |
769 | P>S | No |
ClinGen Ensembl |
|
|
CA366537102 rs1352647281 |
770 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199980136 CA152369024 |
771 | Y>H | No |
ClinGen Ensembl |
|
|
CA366537158 rs1250306255 |
773 | C>R | No |
ClinGen gnomAD |
|
|
rs761425234 CA4112561 |
774 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1299514340 CA366537214 |
776 | R>Q | No |
ClinGen TOPMed |
|
|
CA366537237 rs1435593320 |
777 | F>L | No |
ClinGen TOPMed |
|
|
CA366537335 rs755364227 |
783 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748378611 CA4112569 |
785 | K>E | No |
ClinGen ExAC gnomAD |
No associated diseases with O94901
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| meiotic nuclear membrane microtubule tethering complex | A nuclear membrane protein complex which connects the nuclear outer and inner membranes together, and links links the nuclear lumen to cytoplasmic microtubules during meiosis. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeleton-nuclear membrane anchor activity | The binding activity of a molecule that brings together a cytoskeletal protein or protein complex and a nuclear membrane lipid or membrane-associated protein, in order to maintain the localization of the cytoskeleton at a specific location of the nuclear membrane. |
| identical protein binding | Binding to an identical protein or proteins. |
| lamin binding | Binding to lamin; any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. |
| protein-membrane adaptor activity | The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| centrosome localization | Any process in which a centrosome is transported to, and/or maintained in, a specific location within the cell. |
| homologous chromosome pairing at meiosis | The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Homologous chromosome pairing begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete. |
| meiotic attachment of telomere to nuclear envelope | The meiotic cell cycle process in which physical connections are formed between telomeric heterochromatin and the nuclear envelope, facilitating bouquet formation. |
| nuclear matrix anchoring at nuclear membrane | The process in which the nuclear matrix, the dense fibrillar network lying on the inner side of the nuclear membrane, is directly or indirectly linked to the nuclear membrane. |
| nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration | The microtubule-mediated movement of the nucleus that is required for the movement of cells along radial glial fibers as a component of the process of cerebral cortex glial-mediated radial cell migration. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| response to mechanical stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P47069 | MPS3 | Spindle pole body assembly component MPS3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8TC36 | SUN5 | SUN domain-containing protein 5 | Homo sapiens (Human) | PR |
| Q9UH99 | SUN2 | SUN domain-containing protein 2 | Homo sapiens (Human) | SS |
| Q9DA32 | Sun5 | SUN domain-containing protein 5 | Mus musculus (Mouse) | PR |
| Q8BJS4 | Sun2 | SUN domain-containing protein 2 | Mus musculus (Mouse) | EV |
| Q9D666 | Sun1 | SUN domain-containing protein 1 | Mus musculus (Mouse) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDFSRLHMYS | PPQCVPENTG | YTYALSSSYS | SDALDFETEH | KLDPVFDSPR | MSRRSLRLAT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TACTLGDGEA | VGADSGTSSA | VSLKNRAART | TKQRRSTNKS | AFSINHVSRQ | VTSSGVSHGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TVSLQDAVTR | RPPVLDESWI | REQTTVDHFW | GLDDDGDLKG | GNKAAIQGNG | DVGAAAATAH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NGFSCSNCSM | LSERKDVLTA | HPAAPGPVSR | VYSRDRNQKC | YFLLQILRRI | GAVGQAVSRT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AWSALWLAVV | APGKAASGVF | WWLGIGWYQF | VTLISWLNVF | LLTRCLRNIC | KFLVLLIPLF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLLAGLSLRG | QGNFFSFLPV | LNWASMHRTQ | RVDDPQDVFK | PTTSRLKQPL | QGDSEAFPWH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WMSGVEQQVA | SLSGQCHHHG | ENLRELTTLL | QKLQARVDQM | EGGAAGPSAS | VRDAVGQPPR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ETDFMAFHQE | HEVRMSHLED | ILGKLREKSE | AIQKELEQTK | QKTISAVGEQ | LLPTVEHLQL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELDQLKSELS | SWRHVKTGCE | TVDAVQERVD | VQVREMVKLL | FSEDQQGGSL | EQLLQRFSSQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FVSKGDLQTM | LRDLQLQILR | NVTHHVSVTK | QLPTSEAVVS | AVSEAGASGI | TEAQARAIVN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SALKLYSQDK | TGMVDFALES | GGGSILSTRC | SETYETKTAL | MSLFGIPLWY | FSQSPRVVIQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PDIYPGNCWA | FKGSQGYLVV | RLSMMIHPAA | FTLEHIPKTL | SPTGNISSAP | KDFAVYGLEN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EYQEEGQLLG | QFTYDQDGES | LQMFQALKRP | DDTAFQIVEL | RIFSNWGHPE | YTCLYRFRVH |
| GEPVK |