Q9P2E2
Gene name |
KIF17 (KIAA1405, KIF3X) |
Protein name |
Kinesin-like protein KIF17 |
Names |
VEGFR-2, Fetal liver kinase 1, FLK-1, Kinase insert domain receptor, KDR, Protein-tyrosine kinase receptor flk-1, KIF3-related motor protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57576 |
EC number |
|
Protein Class |
CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED (PTHR47969) |

Descriptions
KIF17 is dendrite-specific motor protein which, in association with the Apba1-containing complex (LIN-10-LIN-2-LIN-7 complex), transports vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules.
Two molecular mechanisms contribute to autoinhibition of KIF17. First, the C-terminal tail interferes with microtubule binding. Second, a CC2 segment blocks processive motility.The CC2 and tail segments inhibit KIF17 motility via direct interactions with the motor domain.
Autoinhibitory domains (AIDs)
Target domain |
3-343 (Kinesin motor domain) |
Relief mechanism |
|
Assay |
Mutagenesis experiment, Deletion assay, Split protein assay |
Target domain |
3-343 (Kinesin motor domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q9P2E2
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9P2E2-F1 | Predicted | AlphaFoldDB |
954 variants for Q9P2E2
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA662497 rs780706160 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
rs780706160 CA338839883 |
2 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1004763870 CA18987430 |
2 | A>V | No |
ClinGen TOPMed |
|
rs1219845071 CA338839852 |
3 | S>F | No |
ClinGen TOPMed |
|
CA662494 rs778812661 |
4 | E>K | No |
ClinGen ExAC gnomAD |
|
CA662493 rs757530650 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1215142599 CA338839795 |
6 | V>A | No |
ClinGen gnomAD |
|
CA338839769 rs1553153537 |
7 | K>N | No |
ClinGen Ensembl |
|
CA662491 rs532543247 |
8 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1570493902 CA338839766 |
8 | V>I | No |
ClinGen Ensembl |
|
CA338839750 rs1406373329 |
9 | V>A | No |
ClinGen gnomAD |
|
CA338839751 rs1406373329 |
9 | V>D | No |
ClinGen gnomAD |
|
CA662490 rs755892107 |
9 | V>I | No |
ClinGen ExAC gnomAD |
|
CA338839734 rs1465882937 |
10 | V>L | No |
ClinGen gnomAD |
|
rs754531858 CA662487 |
11 | R>H | No |
ClinGen ExAC gnomAD |
|
CA338839723 rs1553153532 |
11 | R>S | No |
ClinGen Ensembl |
|
rs765763185 CA662485 |
13 | R>C | No |
ClinGen ExAC gnomAD |
|
rs765763185 CA662486 |
13 | R>G | No |
ClinGen ExAC gnomAD |
|
rs762667120 CA662484 |
13 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1402270155 CA338839641 |
15 | M>T | No |
ClinGen TOPMed |
|
CA662482 rs572876276 |
18 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA338839586 rs1446601141 |
18 | R>W | No |
ClinGen gnomAD |
|
rs1482142319 CA338839555 |
20 | R>* | No |
ClinGen gnomAD |
|
rs1171298954 CA338839552 |
20 | R>P | No |
ClinGen TOPMed |
|
CA18987355 rs1055605715 |
23 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA662481 rs776191053 |
23 | R>H | No |
ClinGen ExAC gnomAD |
|
CA662480 rs776191053 |
23 | R>L | No |
ClinGen ExAC gnomAD |
|
CA338839474 rs1247534798 |
25 | Q>R | No |
ClinGen gnomAD |
|
CA338839463 rs772732709 |
26 | P>L | No |
ClinGen ExAC gnomAD |
|
CA662479 rs772732709 |
26 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1393974990 CA338839456 |
27 | V>A | No |
ClinGen gnomAD |
|
rs746325098 CA662478 |
29 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1300330264 CA338839431 |
30 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs774494609 CA662477 |
31 | D>Y | No |
ClinGen ExAC |
|
CA338839409 rs1430894315 |
32 | C>G | No |
ClinGen gnomAD |
|
CA662476 rs770860704 |
34 | R>C | No |
ClinGen ExAC gnomAD |
|
CA338839383 rs1166754399 |
34 | R>H | No |
ClinGen gnomAD |
|
rs1369181089 CA338839374 |
35 | A>D | No |
ClinGen gnomAD |
|
rs1426654302 CA338839376 |
35 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1426654302 CA338839379 |
35 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA662474 rs777852742 |
36 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs1422351187 CA338839364 |
36 | Q>P | No |
ClinGen gnomAD |
|
rs1482647850 CA338839336 |
38 | C>F | No |
ClinGen gnomAD |
|
CA338839343 rs1182640737 |
38 | C>R | No |
ClinGen gnomAD |
|
rs1182640737 CA338839341 |
38 | C>S | No |
ClinGen gnomAD |
|
rs1272428360 CA338839320 |
40 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA338839314 rs1224008918 |
40 | Q>R | No |
ClinGen TOPMed gnomAD |
|
COSM1338594 CA662472 rs747916325 |
42 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1242146201 CA338839276 |
43 | G>A | No |
ClinGen gnomAD |
|
rs146128405 CA662470 |
44 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA662466 rs750134074 |
46 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs915491135 CA338839250 |
46 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs915491135 CA18987249 |
46 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs764963538 CA338838707 |
47 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764963538 CA662465 |
47 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338838648 rs1391544356 |
48 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA338838651 rs1391544356 |
48 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA338838639 rs1397978042 |
49 | P>R | No |
ClinGen TOPMed |
|
CA662463 rs149468609 |
50 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338838625 rs1159571483 |
50 | K>R | No |
ClinGen gnomAD |
|
CA338838598 rs1369184277 |
51 | Q>E | No |
ClinGen TOPMed |
|
rs1472154347 CA338838591 |
51 | Q>R | No |
ClinGen gnomAD |
|
rs1249408167 CA338838532 |
52 | F>L | No |
ClinGen gnomAD |
|
rs767926945 CA662462 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
rs979546888 CA18987206 |
53 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1443052196 CA338838516 |
54 | F>I | No |
ClinGen TOPMed |
|
CA338838492 rs1570493434 |
54 | F>L | No |
ClinGen Ensembl |
|
rs369480851 CA338838475 |
55 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369480851 CA18987201 |
55 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs749295230 CA662458 |
57 | A>S | No |
ClinGen ExAC gnomAD |
|
CA338838390 rs1328875785 |
60 | V>G | No |
ClinGen gnomAD |
|
CA338838399 rs1227456930 |
60 | V>M | No |
ClinGen gnomAD |
|
rs770025824 CA662456 |
61 | D>H | No |
ClinGen ExAC gnomAD |
|
rs780967251 CA662454 |
62 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662455 rs748329683 |
62 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1385187567 CA338838319 |
64 | T>A | No |
ClinGen gnomAD |
|
rs147438943 CA662453 |
65 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA18987091 rs142917123 |
67 | I>M | No |
ClinGen ESP |
|
CA662450 rs779848495 |
67 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338838261 rs1478277348 |
68 | Y>H | No |
ClinGen TOPMed gnomAD |
|
CA338838255 rs1355347449 |
68 | Y>S | No |
ClinGen TOPMed |
|
rs757978308 CA662449 |
69 | N>S | No |
ClinGen ExAC gnomAD |
|
CA662448 rs749926705 |
70 | E>D | No |
ClinGen ExAC gnomAD |
|
rs778529576 CA662447 |
72 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1248154006 CA338838189 |
72 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA662445 rs554062697 |
74 | P>L | No |
ClinGen ExAC gnomAD |
|
CA662446 rs756978243 |
74 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756978243 CA338838167 |
74 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662444 rs768053338 |
77 | E>D | No |
ClinGen ExAC gnomAD |
|
rs765354547 CA662419 |
78 | G>D | No |
ClinGen ExAC gnomAD |
|
COSM328041 rs748366715 CA662417 |
79 | V>I | pancreas large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs944238547 CA18985761 |
80 | T>A | No |
ClinGen TOPMed |
|
rs768786059 CA662416 |
80 | T>S | No |
ClinGen ExAC gnomAD |
|
rs865804340 CA18985754 |
82 | G>D | No |
ClinGen Ensembl |
|
rs143703360 CA18985749 |
83 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
CA338837958 rs1385441279 |
84 | N>D | No |
ClinGen TOPMed |
|
CA18985738 rs1013323046 |
84 | N>S | No |
ClinGen TOPMed |
|
rs12046928 CA662411 |
90 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338837886 rs1407962161 |
90 | Y>C | No |
ClinGen gnomAD |
|
rs770606552 CA338837868 |
91 | G>R | No |
ClinGen ExAC gnomAD |
|
CA662409 rs770606552 |
91 | G>S | No |
ClinGen ExAC gnomAD |
|
rs748782808 CA662408 |
92 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1196391038 CA338837793 |
94 | G>V | No |
ClinGen TOPMed |
|
CA338837756 rs1163164589 |
95 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA338837747 rs1570490449 |
96 | G>E | No |
ClinGen Ensembl |
|
rs991182633 CA18985688 |
96 | G>R | No |
ClinGen gnomAD |
|
rs755751918 CA662406 |
97 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs1253040464 CA338837697 |
98 | S>Y | No |
ClinGen gnomAD |
|
CA338837665 rs1570490427 |
100 | T>P | No |
ClinGen Ensembl |
|
CA338837645 rs1180451049 |
101 | M>V | No |
ClinGen gnomAD |
|
rs139355427 CA338837549 |
105 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139355427 CA662404 |
105 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758746393 CA662402 |
107 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA18985642 rs1003177478 |
108 | P>L | No |
ClinGen Ensembl |
|
CA338837408 rs1288016031 |
110 | Q>L | No |
ClinGen gnomAD |
|
COSM3360618 CA662399 rs35835983 |
111 | R>G | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA338837336 rs1287560260 |
112 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA338837331 rs1287560260 |
112 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1293535419 CA338837257 |
115 | P>S | No |
ClinGen gnomAD |
|
rs138931507 CA662397 |
116 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760824096 CA662396 |
117 | A>D | No |
ClinGen ExAC gnomAD |
|
rs79832278 CA338836685 |
118 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs79832278 CA662394 |
118 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338836675 COSM3418702 rs376781948 |
119 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
CA662393 rs376781948 |
119 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA662392 rs574280002 |
120 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA18985608 rs138024708 |
121 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
CA662390 rs138024708 |
121 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
rs539132183 CA18985605 |
123 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA18985597 rs146714930 |
125 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1320507 CA662387 rs146714930 |
125 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA18985598 rs146714930 |
125 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338836167 rs1381787904 |
127 | C>Y | No |
ClinGen gnomAD |
|
rs781378925 CA662360 |
131 | T>A | No |
ClinGen ExAC gnomAD |
|
CA338836136 rs1237749465 |
132 | K>E | No |
ClinGen TOPMed |
|
rs751773843 CA662358 |
135 | V>I | No |
ClinGen ExAC gnomAD |
|
rs750363854 CA662356 |
136 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750363854 CA662355 |
136 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662357 rs766334139 |
136 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1002067440 CA18983859 |
139 | Y>H | No |
ClinGen gnomAD |
|
CA662354 rs536519322 |
140 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761604974 CA662353 |
142 | I>M | No |
ClinGen ExAC gnomAD |
|
CA662351 rs768097968 |
143 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662352 rs776211913 |
143 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs760379606 CA662350 |
144 | N>S | No |
ClinGen ExAC gnomAD |
|
CA662349 rs775119585 |
146 | D>E | No |
ClinGen ExAC gnomAD |
|
CA662348 rs200770891 |
147 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs114164909 CA338836038 |
148 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs371219583 CA662346 |
148 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371219583 CA662345 |
148 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs114164909 CA662347 |
148 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1411048825 CA338836028 |
150 | L>I | No |
ClinGen gnomAD |
|
CA662344 rs376897579 |
155 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781431910 CA662343 |
157 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1163754002 CA338835764 |
157 | Q>R | No |
ClinGen gnomAD |
|
CA338834766 rs1174242812 |
161 | L>V | No |
ClinGen gnomAD |
|
CA338834739 rs1337253002 |
163 | E>Q | No |
ClinGen TOPMed |
|
rs1376516475 CA338834714 |
165 | P>S | No |
ClinGen gnomAD |
|
rs752238928 CA662314 |
166 | E>G | No |
ClinGen ExAC gnomAD |
|
CA662315 rs539396446 |
166 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs547253363 CA662312 |
169 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs547253363 CA662311 |
169 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338834613 rs1282683938 |
170 | Y>F | No |
ClinGen gnomAD |
|
rs370161843 CA338834587 |
171 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
rs370161843 CA662306 |
171 | V>E | No |
ClinGen ESP ExAC gnomAD |
|
rs149625740 CA662308 |
171 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149625740 CA662307 |
171 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1232225620 CA338834556 |
173 | G>E | No |
ClinGen gnomAD |
|
rs143810502 CA662304 |
176 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA662302 rs778972017 |
176 | M>T | No |
ClinGen ExAC gnomAD |
|
rs143810502 CA662303 |
176 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338834491 rs1324453257 |
177 | H>N | No |
ClinGen gnomAD |
|
CA18981076 rs958533619 |
177 | H>Q | No |
ClinGen gnomAD |
|
CA338834468 COSM1338591 rs1414901196 |
178 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA662299 rs777507035 |
181 | S>R | No |
ClinGen ExAC gnomAD |
|
rs377444908 CA662297 |
182 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338834390 rs1474258144 |
183 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA338834320 rs1240669341 |
185 | C>R | No |
ClinGen gnomAD |
|
CA338834296 rs1190059844 |
186 | E>* | No |
ClinGen gnomAD |
|
CA662296 rs200398452 |
186 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557604743 CA338834283 |
187 | H>R | No |
ClinGen Ensembl |
|
rs771781577 CA18981001 |
189 | M>R | No |
ClinGen Ensembl |
|
CA18981007 rs970813515 |
189 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA338834193 rs1257461920 |
190 | E>D | No |
ClinGen gnomAD |
|
CA338834188 rs1384691104 |
191 | T>A | No |
ClinGen TOPMed |
|
rs79606717 CA662294 |
194 | K>E | No |
ClinGen Ensembl |
|
rs754438385 CA662293 |
196 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144250827 CA662292 |
196 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA662290 rs762645455 |
197 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662291 rs762645455 |
197 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662288 rs369376665 |
199 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338833993 rs1354632834 |
199 | G>D | No |
ClinGen gnomAD |
|
CA662287 rs369376665 |
199 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338833950 rs1168143846 |
201 | T>A | No |
ClinGen TOPMed |
|
CA662286 rs775858871 |
201 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662285 rs772235015 |
203 | M>L | No |
ClinGen ExAC gnomAD |
|
COSM1212383 rs1407793115 CA338833722 |
210 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA338833653 rs1165316751 |
212 | S>C | No |
ClinGen gnomAD |
|
rs1570479590 CA338833644 |
213 | I>F | No |
ClinGen Ensembl |
|
rs762611471 CA18980906 |
213 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs200568311 CA662281 |
216 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs777560283 CA662280 |
218 | I>F | No |
ClinGen ExAC gnomAD |
|
CA662279 rs748147904 |
218 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780956478 CA662277 |
219 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338833524 rs1292262756 |
220 | M>K | No |
ClinGen gnomAD |
|
rs751053357 CA662275 |
223 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1449795682 CA338833416 |
224 | D>Y | No |
ClinGen gnomAD |
|
CA338873313 rs1570474092 |
225 | E>K | No |
ClinGen Ensembl |
|
rs201696480 CA662237 |
226 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662238 rs762937507 COSM678771 |
226 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs771757364 CA662235 |
227 | G>D | No |
ClinGen ExAC gnomAD |
|
CA662236 rs775538844 |
227 | G>R | No |
ClinGen ExAC gnomAD |
|
CA662234 rs745395112 |
229 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1570474055 CA338873282 |
230 | H>P | No |
ClinGen Ensembl |
|
rs778529699 CA662233 |
231 | L>F | No |
ClinGen ExAC gnomAD |
|
CA19013243 rs927719157 |
231 | L>H | No |
ClinGen Ensembl |
|
CA662231 rs557415265 |
232 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA662232 COSM1212382 rs756868351 |
232 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA662230 rs781470496 |
233 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766846267 CA662227 |
235 | K>R | No |
ClinGen ExAC gnomAD |
|
CA338873240 rs1434163456 |
237 | N>K | No |
ClinGen gnomAD |
|
rs758850766 CA662226 |
242 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA19013196 rs140286098 |
244 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
CA19013188 rs964409495 |
246 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA662224 rs765233832 |
246 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1484166382 CA338873173 |
248 | S>F | No |
ClinGen gnomAD |
|
rs776643012 CA662219 |
251 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776643012 CA662220 |
251 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772168049 CA662218 |
253 | T>A | No |
ClinGen ExAC gnomAD |
|
rs745736271 CA662217 |
253 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA19013131 rs372872118 |
255 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
CA662213 rs777448525 |
256 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA662214 rs534767695 |
256 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA662212 rs768947896 |
257 | L>I | No |
ClinGen ExAC gnomAD |
|
rs1399009603 CA338873118 |
258 | K>N | No |
ClinGen TOPMed |
|
rs780352465 CA662210 |
258 | K>R | No |
ClinGen ExAC gnomAD |
|
CA338873104 rs1372741853 |
260 | A>G | No |
ClinGen gnomAD |
|
rs1462629326 CA338873106 |
260 | A>T | No |
ClinGen gnomAD |
|
CA338873103 rs1372741853 |
260 | A>V | No |
ClinGen gnomAD |
|
CA338873095 rs1168664491 |
262 | K>E | No |
ClinGen gnomAD |
|
rs750870052 CA662208 |
262 | K>N | No |
ClinGen ExAC gnomAD |
|
CA662209 rs116683388 |
262 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA662207 rs200488493 |
263 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA662206 rs757329825 |
266 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA19013080 rs770330549 |
267 | L>F | No |
ClinGen Ensembl |
|
rs567226732 CA662204 |
268 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA338873056 rs1478383271 |
269 | A>T | No |
ClinGen TOPMed |
|
CA338873053 rs1438881063 |
269 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1214369075 CA338873047 |
270 | L>P | No |
ClinGen TOPMed |
|
rs1256373121 CA338873035 |
272 | N>S | No |
ClinGen Ensembl |
|
rs759607594 CA662200 |
274 | I>T | No |
ClinGen ExAC gnomAD |
|
rs201078177 CA662198 |
275 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA662199 rs201078177 |
275 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs762499616 CA662197 |
276 | A>V | No |
ClinGen ExAC gnomAD |
|
rs760901035 CA19013046 |
279 | D>N | No |
ClinGen Ensembl |
|
CA662195 rs769513525 |
279 | D>V | No |
ClinGen ExAC gnomAD |
|
CA662192 rs772411168 |
280 | G>E | No |
ClinGen ExAC gnomAD |
|
CA662193 rs780409575 |
280 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746439314 CA662191 |
281 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662190 rs779454886 |
281 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757658677 CA662189 |
284 | H>P | No |
ClinGen ExAC gnomAD |
|
COSM1501170 CA19013026 rs755947089 |
284 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1005064749 CA19013018 |
285 | V>A | No |
ClinGen Ensembl |
|
rs777648602 CA19013021 |
285 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777648602 COSM146437 CA662187 |
285 | V>I | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA662184 rs767489017 |
288 | R>C | No |
ClinGen ExAC TOPMed |
|
CA662183 rs199932440 |
288 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766360804 CA662181 |
290 | S>L | No |
ClinGen ExAC gnomAD |
|
rs762755460 CA662180 |
293 | T>A | No |
ClinGen ExAC gnomAD |
|
CA662179 rs772780186 COSM1741236 |
293 | T>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs776259696 CA662176 |
294 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140621013 CA662177 |
294 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557601957 CA338872869 |
301 | G>C | No |
ClinGen Ensembl |
|
CA19012888 rs989132100 |
301 | G>D | No |
ClinGen Ensembl |
|
rs142534674 CA662171 |
302 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338872859 rs1159074768 |
303 | N>D | No |
ClinGen gnomAD |
|
rs144287595 CA338872848 |
304 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144287595 CA662170 |
304 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA662168 rs756260623 |
305 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338872842 rs748423151 |
305 | K>N | No |
ClinGen ExAC gnomAD |
|
CA338872846 rs756260623 |
305 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1454417381 CA338872844 |
305 | K>R | No |
ClinGen TOPMed gnomAD |
|
COSM3376955 CA662166 rs370700388 |
306 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs766018489 CA662163 |
309 | V>L | No |
ClinGen ExAC |
|
rs750314557 CA662161 |
310 | A>T | No |
ClinGen ExAC gnomAD |
|
rs761281123 CA662159 |
311 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338872803 rs1019450527 |
312 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1019450527 CA19012750 |
312 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA662157 rs144903116 |
313 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM903383 rs144903116 CA662158 |
313 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA662156 rs528572676 |
315 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749874856 CA662153 |
316 | D>N | No |
ClinGen ExAC gnomAD |
|
rs773566005 CA662152 |
317 | N>H | No |
ClinGen ExAC gnomAD |
|
CA338872766 rs1381513869 |
318 | N>S | No |
ClinGen gnomAD |
|
rs1239398735 CA338872758 |
319 | Y>C | No |
ClinGen TOPMed |
|
rs139202591 CA662148 |
320 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139202591 CA662149 |
320 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA662147 rs755253390 |
322 | T>I | No |
ClinGen ExAC gnomAD |
|
CA338872728 rs1203964412 |
324 | S>G | No |
ClinGen Ensembl |
|
CA662145 rs779956063 |
325 | T>A | No |
ClinGen ExAC gnomAD |
|
rs758122496 CA662144 |
325 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201625621 CA662141 |
327 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338872711 COSM1338586 rs1260237300 |
327 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA662142 rs201625621 |
327 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338872702 rs116806262 |
328 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs760437431 CA662138 |
330 | N>I | No |
ClinGen ExAC gnomAD |
|
rs760437431 CA662139 |
330 | N>S | No |
ClinGen ExAC gnomAD |
|
CA662136 rs202087220 |
331 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM2151840 rs139912475 CA662137 |
331 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA662135 rs368424833 |
332 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1270514571 CA338872680 |
333 | K>Q | No |
ClinGen gnomAD |
|
CA338872668 rs1366650655 |
334 | N>S | No |
ClinGen TOPMed |
|
CA662132 rs762341534 |
336 | R>S | No |
ClinGen ExAC gnomAD |
|
rs776860804 CA338872645 |
337 | N>K | No |
ClinGen ExAC gnomAD |
|
CA662131 rs776860804 |
337 | N>K | No |
ClinGen ExAC gnomAD |
|
rs368021087 CA662130 |
339 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA662128 COSM1166358 rs780108776 |
340 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs149337781 CA662127 |
340 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338872627 rs2296225 |
341 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778612010 CA662125 |
341 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_055983 CA662126 rs2296225 |
341 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757201811 CA662124 |
342 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662123 rs147080288 |
342 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1220009686 CA338872597 |
345 | P>L | No |
ClinGen TOPMed |
|
rs1475830383 CA338872590 |
346 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA338872585 rs1256816711 |
347 | D>H | No |
ClinGen gnomAD |
|
CA338872574 rs150946378 |
348 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs150946378 CA662121 |
348 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338872568 COSM903382 rs1195511154 |
350 | L>F | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs767101609 CA662119 |
351 | R>C | No |
ClinGen ExAC gnomAD |
|
CA19012486 rs374159508 |
351 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
CA662117 rs141566878 |
352 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA662116 rs765637388 |
355 | E>G | No |
ClinGen ExAC gnomAD |
|
rs762464381 CA662115 |
356 | E>D | No |
ClinGen ExAC gnomAD |
|
rs868344609 CA19012480 |
356 | E>K | No |
ClinGen Ensembl |
|
CA662114 rs777271601 |
357 | I>V | No |
ClinGen ExAC |
|
CA338872514 rs1290017757 |
358 | K>* | No |
ClinGen TOPMed |
|
CA338872493 rs1354654743 |
361 | K>E | No |
ClinGen gnomAD |
|
CA662111 rs368449465 |
363 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1570473126 CA338872476 |
363 | I>T | No |
ClinGen Ensembl |
|
rs1480534082 CA338872479 |
363 | I>V | No |
ClinGen TOPMed |
|
CA662109 rs772189322 |
365 | T>A | No |
ClinGen ExAC gnomAD |
|
CA662108 rs376173045 |
365 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
CA662106 rs114221851 |
366 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA662105 rs749266864 |
366 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs1479276190 CA338872449 |
368 | M>L | No |
ClinGen gnomAD |
|
CA662104 rs56750936 VAR_061282 |
369 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA662103 rs201716162 |
370 | P>A | No |
ClinGen 1000Genomes ExAC |
|
rs752176653 CA662102 |
371 | S>G | No |
ClinGen ExAC gnomAD |
|
COSM903381 rs1467421996 CA338872413 |
373 | L>P | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs146004450 CA662100 |
375 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338872017 rs1570465963 |
381 | V>G | No |
ClinGen Ensembl |
|
rs748057322 CA662083 |
381 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338871995 rs1427405044 |
383 | P>L | No |
ClinGen TOPMed |
|
CA338871988 rs1346325838 |
384 | D>G | No |
ClinGen gnomAD |
|
CA338871971 rs1417902463 |
385 | P>L | No |
ClinGen gnomAD |
|
CA338871977 rs1159074407 |
385 | P>S | No |
ClinGen gnomAD |
|
rs1557598599 CA338871965 |
386 | V>E | No |
ClinGen Ensembl |
|
rs1174486481 CA338871931 |
389 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs754503405 CA662080 |
392 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA19006914 rs754503405 |
392 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs926634552 CA19006912 |
393 | L>W | No |
ClinGen Ensembl |
|
rs746697901 CA662079 |
394 | P>L | No |
ClinGen ExAC gnomAD |
|
CA662078 rs779828987 |
395 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA19006898 rs1045368209 |
395 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA662077 rs758075169 |
397 | V>M | No |
ClinGen ExAC gnomAD |
|
rs754285551 CA662076 |
399 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA662075 rs764463105 |
400 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs522496 CA338871770 |
402 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA662074 rs522496 VAR_023527 |
402 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA19006853 rs76966292 |
403 | E>* | No |
ClinGen Ensembl |
|
CA338871738 rs1570465808 |
404 | A>V | No |
ClinGen Ensembl |
|
rs199771446 CA662071 |
405 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA662072 rs199771446 |
405 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1332615959 CA338871702 |
407 | Q>* | No |
ClinGen TOPMed |
|
CA662067 rs373523975 COSM903376 |
410 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA662068 rs369680598 |
410 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758439125 CA662027 |
412 | E>G | No |
ClinGen ExAC gnomAD |
|
CA338870905 rs1158360201 |
413 | Y>* | No |
ClinGen TOPMed |
|
CA338870924 rs1164110018 |
413 | Y>D | No |
ClinGen gnomAD |
|
CA338870887 rs1456340363 |
414 | E>G | No |
ClinGen gnomAD |
|
CA338870872 rs1312763468 |
415 | E>* | No |
ClinGen gnomAD |
|
rs750658619 CA662026 |
416 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662025 rs148294907 |
416 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148294907 CA18998759 |
416 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1570456067 CA338870823 |
417 | L>P | No |
ClinGen Ensembl |
|
CA338870827 rs1356843958 |
417 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs527764404 CA338870792 |
419 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
rs527764404 CA662021 |
419 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA662020 rs527764404 |
419 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA662022 rs369702366 |
419 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs967670614 CA18998720 |
422 | A>T | No |
ClinGen TOPMed |
|
rs560262440 CA662017 |
423 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs770624460 CA662016 |
426 | A>S | No |
ClinGen ExAC gnomAD |
|
CA662015 rs748839142 |
426 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1353120814 CA338870625 |
427 | E>G | No |
ClinGen gnomAD |
|
rs138004364 CA662012 |
427 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138004364 CA662013 |
427 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338870608 rs1307341539 |
428 | Q>* | No |
ClinGen gnomAD |
|
CA662011 rs780513841 |
429 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1570455963 CA338870575 |
430 | S>A | No |
ClinGen Ensembl |
|
CA662009 rs750546120 |
431 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA662010 rs201195116 |
431 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338870524 rs1570455941 |
433 | R>S | No |
ClinGen Ensembl |
|
CA18998683 rs965429035 |
434 | L>M | No |
ClinGen Ensembl |
|
CA338870474 rs1327263707 |
436 | E>A | No |
ClinGen TOPMed |
|
CA18998670 rs759239961 |
440 | A>T | No |
ClinGen Ensembl |
|
CA338870419 rs1570455916 |
440 | A>V | No |
ClinGen Ensembl |
|
CA662006 rs754109592 |
441 | M>I | No |
ClinGen ExAC gnomAD |
|
CA662007 rs757513855 |
441 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338870415 rs1317971715 |
441 | M>V | No |
ClinGen TOPMed |
|
CA662004 rs562792585 COSM1338573 |
442 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA662005 rs562792585 |
442 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs140125368 CA662003 |
442 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA662002 rs767597163 |
444 | S>L | No |
ClinGen ExAC gnomAD |
|
CA338870371 rs1396024580 |
445 | Y>H | No |
ClinGen gnomAD |
|
CA661998 rs141125042 |
447 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661996 rs769055081 |
451 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1570455853 CA338870266 |
451 | T>P | No |
ClinGen Ensembl |
|
rs1283989151 CA338870220 |
454 | E>K | No |
ClinGen gnomAD |
|
rs1236686639 CA338870183 |
455 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1202754771 CA338870170 |
456 | L>P | No |
ClinGen TOPMed |
|
rs186246358 CA661991 COSM182838 |
457 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
COSM1338572 rs746302711 CA661992 |
457 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs112930242 CA338870129 |
458 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661989 rs749572531 |
459 | E>G | No |
ClinGen ExAC gnomAD |
|
CA18997224 rs936575779 |
462 | A>D | No |
ClinGen Ensembl |
|
CA661968 rs553516160 |
463 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338869369 rs1475574613 |
464 | L>V | No |
ClinGen gnomAD |
|
rs1030234102 CA18997218 COSM131050 |
466 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA338869345 rs1030234102 |
466 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs371293452 CA661967 |
469 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
rs1371663412 CA338869304 |
472 | A>P | No |
ClinGen TOPMed |
|
CA338869295 rs1197754955 |
473 | E>G | No |
ClinGen gnomAD |
|
CA661963 rs781103880 |
475 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661964 rs756582673 |
475 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661962 rs754694005 |
477 | R>G | No |
ClinGen ExAC gnomAD |
|
CA338869271 rs1281927521 |
477 | R>K | No |
ClinGen gnomAD |
|
CA661960 rs200416385 |
478 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA661961 rs751561906 |
478 | A>T | No |
ClinGen ExAC gnomAD |
|
rs758293573 CA661959 |
480 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs867454014 CA18997198 |
481 | A>V | No |
ClinGen Ensembl |
|
CA338869241 rs1163395535 |
482 | S>G | No |
ClinGen TOPMed |
|
CA338869238 rs147249030 |
482 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661958 rs147249030 |
482 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661957 rs764670643 |
483 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200073708 CA661956 |
484 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1406478222 CA338869208 |
485 | E>* | No |
ClinGen gnomAD |
|
rs753401086 CA661955 |
486 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1570452775 CA338869193 |
486 | Y>S | No |
ClinGen Ensembl |
|
CA661954 rs534971002 |
487 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338869163 rs1233633573 |
489 | A>T | No |
ClinGen gnomAD |
|
CA18997171 rs191996405 |
490 | F>L | No |
ClinGen 1000Genomes |
|
CA661951 rs771343541 |
491 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338869116 rs1254671886 |
492 | Y>C | No |
ClinGen gnomAD |
|
rs773479871 CA661949 |
493 | E>K | No |
ClinGen ExAC gnomAD |
|
CA661947 rs200910771 |
495 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661948 rs769986016 |
495 | V>M | No |
ClinGen ExAC gnomAD |
|
CA338869075 rs1350815390 |
496 | V>M | No |
ClinGen gnomAD |
|
CA338869036 rs1210483010 |
499 | K>E | No |
ClinGen TOPMed |
|
CA338869027 rs1308071543 |
499 | K>N | No |
ClinGen gnomAD |
|
CA338869037 rs1210483010 |
499 | K>Q | No |
ClinGen TOPMed |
|
CA338868985 rs1261338046 |
502 | S>F | No |
ClinGen TOPMed |
|
rs74956681 CA18997122 |
502 | S>P | No |
ClinGen Ensembl |
|
rs768877673 CA661945 |
503 | T>M | No |
ClinGen ExAC gnomAD |
|
rs768877673 CA338868974 |
503 | T>R | No |
ClinGen ExAC gnomAD |
|
rs746813758 CA661943 |
506 | T>S | No |
ClinGen ExAC gnomAD |
|
CA661942 rs115228567 |
507 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA661938 COSM532446 rs756737847 |
513 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA338868770 rs1557592625 |
515 | T>I | No |
ClinGen Ensembl |
|
CA338868755 rs1158209957 |
516 | Q>* | No |
ClinGen gnomAD |
|
CA338868759 rs1158209957 |
516 | Q>K | No |
ClinGen gnomAD |
|
CA338868746 rs1437838319 |
517 | V>I | No |
ClinGen TOPMed |
|
rs760306635 CA661935 |
522 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138561064 CA661932 |
523 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338868633 rs1284703378 |
525 | P>L | No |
ClinGen gnomAD |
|
rs1213927356 CA338868622 |
526 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1213927356 CA338868624 |
526 | K>T | No |
ClinGen TOPMed gnomAD |
|
CA661931 rs773829153 |
527 | V>A | No |
ClinGen ExAC gnomAD |
|
CA338868605 rs773829153 |
527 | V>G | No |
ClinGen ExAC gnomAD |
|
rs761824033 CA661929 |
528 | E>K | No |
ClinGen ExAC gnomAD |
|
CA18997071 rs947124230 |
535 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA338868462 rs1297692808 |
538 | S>P | No |
ClinGen gnomAD |
|
CA338868447 rs1377478877 |
539 | S>N | No |
ClinGen gnomAD |
|
rs115071410 CA661925 |
539 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747197585 CA661926 |
539 | S>R | No |
ClinGen ExAC gnomAD |
|
rs986188668 CA18997063 |
541 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs1422872853 CA338868397 |
542 | S>C | No |
ClinGen gnomAD |
|
rs140327262 CA661923 |
543 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142146939 CA661918 |
545 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
rs367672816 COSM3803773 CA661920 |
545 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA661919 rs367672816 |
545 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338868362 rs1231258919 |
547 | T>A | No |
ClinGen TOPMed |
|
CA338868360 rs1327469752 |
547 | T>N | No |
ClinGen TOPMed |
|
rs755778084 CA661917 |
549 | V>L | No |
ClinGen ExAC gnomAD |
|
rs766885886 CA338868339 |
551 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766885886 CA661915 |
551 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338868315 rs1311912772 |
552 | A>V | No |
ClinGen gnomAD |
|
CA661914 rs762663001 |
553 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA18997026 rs1039642164 |
554 | P>T | No |
ClinGen gnomAD |
|
rs528825687 CA661913 |
555 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201867180 CA661910 |
559 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201867180 CA338868222 |
559 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338868190 rs775659554 |
562 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775659554 CA338868188 |
562 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661907 rs775659554 |
562 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1475709320 CA338868179 |
563 | E>Q | No |
ClinGen TOPMed |
|
rs987566615 CA18997008 |
564 | V>A | No |
ClinGen Ensembl |
|
CA661906 rs772233726 |
564 | V>F | No |
ClinGen ExAC gnomAD |
|
rs745693652 CA661905 |
565 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661902 rs770866526 |
566 | M>R | No |
ClinGen ExAC |
|
CA661904 rs770866526 |
566 | M>T | No |
ClinGen ExAC |
|
rs1422807383 CA338868120 |
567 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA338868112 rs1553150613 |
568 | T>N | No |
ClinGen Ensembl |
|
rs749233289 CA661901 |
570 | E>G | No |
ClinGen ExAC gnomAD |
|
CA338868090 rs1168527505 |
570 | E>K | No |
ClinGen gnomAD |
|
rs1256254922 CA338868069 |
571 | S>C | No |
ClinGen gnomAD |
|
CA338868050 rs1553150610 |
573 | S>G | No |
ClinGen Ensembl |
|
CA18996990 rs370414135 |
573 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
rs200690761 CA18996984 |
574 | R>K | No |
ClinGen ExAC gnomAD |
|
CA661899 rs200690761 |
574 | R>T | No |
ClinGen ExAC gnomAD |
|
CA661898 rs747808678 |
575 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1319082149 CA338868020 |
575 | Y>S | No |
ClinGen gnomAD |
|
rs1485428184 CA338867972 |
579 | E>Q | No |
ClinGen TOPMed |
|
rs116376356 CA661894 |
582 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757763220 CA661893 |
583 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA661892 rs754366304 |
583 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1399342658 CA338867907 |
584 | E>* | No |
ClinGen gnomAD |
|
CA661890 rs149437507 |
586 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661889 rs149437507 |
586 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA18996945 rs896454556 |
590 | L>M | No |
ClinGen TOPMed |
|
CA338867830 rs1421595233 |
591 | G>E | No |
ClinGen gnomAD |
|
rs1373183872 CA338867817 |
593 | Q>* | No |
ClinGen TOPMed |
|
rs1309458094 CA338867812 |
593 | Q>H | No |
ClinGen TOPMed |
|
rs1410389829 CA338867804 |
594 | N>K | No |
ClinGen TOPMed |
|
CA338867800 rs1570452127 |
595 | Y>S | No |
ClinGen Ensembl |
|
CA18996924 rs138626725 |
596 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138626725 CA18996929 |
596 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661885 rs138626725 |
596 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661883 rs114593671 |
597 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA18996900 rs386629316 |
597 | P>LE | No |
ClinGen Ensembl |
|
rs114066292 CA661880 |
598 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661879 rs768439593 |
600 | E>K | No |
ClinGen ExAC gnomAD |
|
rs114229809 CA661878 |
601 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757612024 CA661876 |
605 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661875 rs754352442 |
607 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778375616 CA661874 |
607 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1442949792 CA338867708 |
610 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA661871 rs767569965 |
613 | Q>* | No |
ClinGen ExAC |
|
CA661870 rs759819527 |
613 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1158816257 CA338867675 |
615 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA661869 rs751746162 |
615 | P>S | No |
ClinGen ExAC gnomAD |
|
CA661866 rs772846814 |
618 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772846814 CA338867660 |
618 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs147702971 CA661865 |
621 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1268635212 CA338867616 |
624 | A>V | No |
ClinGen gnomAD |
|
rs761787665 CA661864 |
626 | L>V | No |
ClinGen ExAC gnomAD |
|
rs141623204 CA661863 |
627 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141623204 CA661862 |
627 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA18996809 rs919387255 |
628 | S>F | No |
ClinGen Ensembl |
|
CA661858 rs150046748 |
630 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1470613330 CA338867577 |
631 | A>V | No |
ClinGen TOPMed |
|
rs370703332 CA661857 |
632 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661856 rs749668565 |
635 | A>V | No |
ClinGen ExAC gnomAD |
|
CA661854 rs777941088 |
636 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756670874 CA661853 |
637 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA661852 rs753195541 |
638 | A>V | No |
ClinGen ExAC gnomAD |
|
CA338867526 rs1453525688 |
640 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs751586466 CA661850 |
641 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751586466 CA661849 |
641 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs969571905 CA18996779 |
644 | P>S | No |
ClinGen Ensembl |
|
rs951888567 CA18996775 |
646 | Q>R | No |
ClinGen TOPMed |
|
rs1339484294 CA338866969 |
647 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs1331835621 CA338866959 |
648 | P>S | No |
ClinGen gnomAD |
|
rs187149276 CA18996040 |
649 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
CA661827 rs200283228 |
649 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA661826 rs41310420 |
650 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1557591237 CA338866926 |
651 | T>K | No |
ClinGen Ensembl |
|
CA661825 rs757096227 |
653 | L>R | No |
ClinGen ExAC |
|
CA338866892 rs1230157568 |
654 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs866676069 CA18996035 |
655 | E>D | No |
ClinGen Ensembl |
|
rs137916833 CA661824 |
655 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs868019414 CA18996032 |
656 | P>L | No |
ClinGen gnomAD |
|
rs1238580943 CA338866838 |
659 | A>D | No |
ClinGen gnomAD |
|
CA18996008 rs201618051 |
661 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA18996012 rs554741213 |
661 | P>T | No |
ClinGen gnomAD |
|
CA338866814 rs1228359913 |
662 | E>K | No |
ClinGen gnomAD |
|
CA18996001 rs866155205 |
663 | A>S | No |
ClinGen gnomAD |
|
rs766931618 CA661820 |
663 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1420708527 CA338866781 |
664 | E>G | No |
ClinGen TOPMed |
|
CA661818 rs773850446 |
664 | E>K | No |
ClinGen ExAC gnomAD |
|
CA661817 rs770517273 |
665 | A>T | No |
ClinGen ExAC gnomAD |
|
rs748540355 CA661816 |
665 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769169459 CA661814 |
666 | A>D | No |
ClinGen ExAC gnomAD |
|
CA338866754 rs769169459 |
666 | A>V | No |
ClinGen ExAC gnomAD |
|
CA338866743 rs1406026608 |
667 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA661812 rs780249724 |
668 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661813 rs747461477 |
668 | D>H | No |
ClinGen ExAC |
|
CA661811 rs758379251 |
669 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661810 rs41312008 |
670 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338866699 rs1437634271 |
671 | P>H | No |
ClinGen gnomAD |
|
rs1437634271 CA338866695 |
671 | P>L | No |
ClinGen gnomAD |
|
rs1248378586 CA338866676 |
673 | P>R | No |
ClinGen gnomAD |
|
CA661774 rs774638949 |
674 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661773 rs558760 VAR_055984 |
675 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA18995508 rs532054254 |
676 | D>G | No |
ClinGen gnomAD |
|
CA338866651 rs572966268 |
676 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs572966268 CA661772 |
676 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA338866641 rs1250202188 |
677 | L>R | No |
ClinGen gnomAD |
|
CA661770 rs770015366 |
679 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661768 rs560975253 |
681 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs560975253 CA338866621 |
681 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA661767 rs754931904 |
682 | A>P | No |
ClinGen ExAC gnomAD |
|
rs1357587938 CA338866600 |
684 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs1240591492 CA338866591 |
685 | V>G | No |
ClinGen gnomAD |
|
rs1288491634 CA338866596 |
685 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1375947500 CA338866589 |
686 | V>M | No |
ClinGen gnomAD |
|
rs542213034 CA338866584 |
687 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs779582888 CA661765 |
687 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs542213034 CA661766 |
687 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1322391307 CA338866580 |
688 | T>A | No |
ClinGen TOPMed |
|
rs1367645667 CA338866575 |
689 | A>T | No |
ClinGen gnomAD |
|
rs1292455232 CA338866570 |
689 | A>V | No |
ClinGen gnomAD |
|
CA18995487 rs1055989695 |
690 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1158946568 CA338866558 |
691 | P>L | No |
ClinGen gnomAD |
|
CA18995486 rs937549224 |
691 | P>S | No |
ClinGen gnomAD |
|
rs937549224 CA338866562 |
691 | P>T | No |
ClinGen gnomAD |
|
rs1363587083 CA338866549 |
693 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1363587083 CA338866551 |
693 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA338866542 rs1180209726 |
694 | W>* | No |
ClinGen gnomAD |
|
CA338866532 rs1239630847 |
695 | L>W | No |
ClinGen gnomAD |
|
CA338866528 rs1268092158 |
696 | E>K | No |
ClinGen gnomAD |
|
CA338866516 rs1198742909 |
697 | A>V | No |
ClinGen gnomAD |
|
CA338866513 rs1265611333 |
698 | Q>* | No |
ClinGen TOPMed gnomAD |
|
CA338866514 rs1265611333 |
698 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA661763 rs139742596 |
698 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764831126 CA661762 |
699 | A>G | No |
ClinGen ExAC gnomAD |
|
rs764831126 CA338866504 |
699 | A>V | No |
ClinGen ExAC gnomAD |
|
CA661761 rs541953044 |
700 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1570448262 CA338866493 |
701 | V>G | No |
ClinGen Ensembl |
|
rs1055036974 CA18995474 |
702 | A>D | No |
ClinGen TOPMed |
|
rs1282616813 CA338866492 |
702 | A>T | No |
ClinGen gnomAD |
|
CA661759 rs373137026 |
703 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1298355858 CA338866476 |
705 | A>T | No |
ClinGen gnomAD |
|
CA18995469 rs879010222 |
706 | Q>* | No |
ClinGen Ensembl |
|
CA338866463 rs1226540105 |
707 | P>A | No |
ClinGen Ensembl |
|
rs1384636925 CA338866459 |
707 | P>L | No |
ClinGen gnomAD |
|
rs1467934221 CA338866455 |
708 | E>G | No |
ClinGen gnomAD |
|
rs760160254 CA338866458 |
708 | E>K | No |
ClinGen ExAC gnomAD |
|
rs760160254 CA661758 |
708 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs763152449 CA661755 |
709 | P>L | No |
ClinGen ExAC gnomAD |
|
CA661756 rs766940874 |
709 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338866451 rs766940874 |
709 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661753 rs143758204 |
711 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338866441 rs773357079 |
711 | P>S | No |
ClinGen ExAC gnomAD |
|
CA661754 rs773357079 COSM331167 |
711 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1201941334 CA338866438 |
712 | A>T | No |
ClinGen gnomAD |
|
rs989888717 CA18995448 |
712 | A>V | No |
ClinGen Ensembl |
|
rs748888738 CA661751 |
713 | T>I | No |
ClinGen ExAC gnomAD |
|
CA338866420 rs1221615632 |
715 | G>A | No |
ClinGen gnomAD |
|
CA661750 rs768471031 |
715 | G>R | No |
ClinGen ExAC gnomAD |
|
CA18995438 rs957040956 |
717 | K>T | No |
ClinGen TOPMed |
|
CA661748 rs779989905 |
718 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338866394 rs1478893100 |
719 | E>G | No |
ClinGen TOPMed |
|
CA338866398 rs1174552890 |
719 | E>K | No |
ClinGen TOPMed |
|
CA661746 rs745389399 |
721 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338866364 rs1403367510 |
723 | M>I | No |
ClinGen gnomAD |
|
CA338866367 rs1398157225 |
723 | M>T | No |
ClinGen gnomAD |
|
CA338866350 rs1427081452 |
725 | V>A | No |
ClinGen TOPMed |
|
CA338866343 rs1336586069 |
726 | A>V | No |
ClinGen gnomAD |
|
CA661744 rs149255241 |
729 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1371542914 CA338866322 |
730 | D>G | No |
ClinGen gnomAD |
|
CA338866314 rs1318236443 |
731 | D>G | No |
ClinGen TOPMed |
|
rs1424108281 CA338866317 |
731 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA338866318 rs1424108281 |
731 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA661741 rs566583367 |
732 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA661740 rs112270148 |
732 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661742 rs566583367 |
732 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338866307 rs1194711601 |
733 | L>M | No |
ClinGen gnomAD |
|
CA18995405 rs886260380 |
734 | P>S | No |
ClinGen Ensembl |
|
CA661737 VAR_055985 rs13375609 |
735 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA338866291 rs1383931789 |
736 | V>M | No |
ClinGen gnomAD |
|
rs1467247107 CA338866286 |
737 | D>N | No |
ClinGen TOPMed |
|
rs765357529 CA661736 |
738 | Q>K | No |
ClinGen ExAC |
|
CA338866252 rs1570447882 |
741 | V>G | No |
ClinGen Ensembl |
|
rs1403057752 CA338866242 |
743 | A>T | No |
ClinGen gnomAD |
|
CA338866239 rs1330215620 |
743 | A>V | No |
ClinGen gnomAD |
|
CA661734 COSM1667215 rs569249224 |
744 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs768818031 CA661733 |
744 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768818031 CA338866236 |
744 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661705 rs747794960 |
747 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661704 rs549777277 |
748 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1283768573 CA338865524 |
749 | E>V | No |
ClinGen gnomAD |
|
CA338865518 rs1317338619 |
750 | Q>* | No |
ClinGen gnomAD |
|
CA338865519 rs1317338619 |
750 | Q>E | No |
ClinGen gnomAD |
|
rs1570444856 CA338865514 |
750 | Q>R | No |
ClinGen Ensembl |
|
rs146864100 CA338865479 |
751 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661703 rs146864100 |
751 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1348537861 CA338865476 |
751 | Q>R | No |
ClinGen gnomAD |
|
CA661701 rs531505555 |
752 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA661702 rs531505555 |
752 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338865430 rs1264815655 |
753 | V>E | No |
ClinGen TOPMed |
|
rs757638344 CA661700 |
753 | V>M | No |
ClinGen ExAC gnomAD |
|
CA18994148 rs985786933 |
754 | G>S | No |
ClinGen Ensembl |
|
rs1195332776 CA338865407 |
754 | G>V | No |
ClinGen gnomAD |
|
CA661697 rs760925611 |
755 | G>R | No |
ClinGen ExAC gnomAD |
|
CA338865381 rs1215486830 |
756 | E>Q | No |
ClinGen gnomAD |
|
CA338865354 rs1279275381 |
757 | Q>* | No |
ClinGen gnomAD |
|
rs1445692501 CA338865334 |
758 | A>T | No |
ClinGen gnomAD |
|
rs578074180 CA661694 |
759 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs578074180 CA661695 |
759 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661696 rs549469387 |
759 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs386629315 CA18994131 |
759 | K>T | No |
ClinGen Ensembl |
|
CA18994124 rs972563859 |
760 | N>D | No |
ClinGen Ensembl |
|
rs1217578002 CA338865250 |
761 | K>T | No |
ClinGen TOPMed |
|
rs1220590811 CA338865213 |
762 | D>E | No |
ClinGen gnomAD |
|
CA661692 rs770910500 |
762 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374049433 CA661689 |
769 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM903369 rs376783254 CA661690 |
769 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs186978787 CA661688 COSM173573 |
770 | R>C | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD |
rs1050038782 CA18994107 |
770 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs768156873 CA661686 |
772 | R>C | No |
ClinGen ExAC gnomAD |
|
CA661685 rs139870251 |
772 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373972661 CA661683 |
773 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779090340 CA661684 |
773 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA18994087 rs777878864 |
774 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777878864 CA661681 |
774 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200888075 CA338865005 |
775 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA661680 rs116367430 |
775 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA661678 rs767729742 |
776 | E>K | No |
ClinGen ExAC gnomAD |
|
rs151177164 COSM1165671 CA661677 |
777 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA661676 rs148629128 |
777 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661675 rs766080010 |
778 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1254201254 CA338864927 |
780 | Q>R | No |
ClinGen TOPMed |
|
rs762986160 CA338864897 |
782 | V>E | No |
ClinGen ExAC gnomAD |
|
rs762986160 CA661674 |
782 | V>G | No |
ClinGen ExAC gnomAD |
|
rs999725624 CA18994057 |
783 | A>S | No |
ClinGen Ensembl |
|
rs773263008 CA661673 |
785 | L>P | No |
ClinGen ExAC gnomAD |
|
rs768677101 CA18994048 |
786 | Q>K | No |
ClinGen TOPMed gnomAD |
|
rs761442869 CA661671 |
786 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs761442869 CA338864850 |
786 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA338864829 rs1462044202 |
787 | N>K | No |
ClinGen gnomAD |
|
CA661670 COSM2156655 rs370565385 |
788 | S>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA338864176 rs1406771753 |
789 | D>V | No |
ClinGen gnomAD |
|
CA338864144 rs1385526649 |
791 | D>E | No |
ClinGen gnomAD |
|
CA338864137 rs1184571027 |
792 | S>N | No |
ClinGen gnomAD |
|
rs116005658 CA661668 |
792 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs114242123 CA18994030 |
793 | G>E | No |
ClinGen 1000Genomes |
|
CA661666 rs200844482 |
793 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA18994021 rs200472696 |
794 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs756546397 CA661663 |
794 | D>N | No |
ClinGen ExAC gnomAD |
|
rs756546397 CA661664 |
794 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1202644244 CA338864103 |
795 | W>* | No |
ClinGen TOPMed gnomAD |
|
CA338864100 rs1202644244 |
795 | W>C | No |
ClinGen TOPMed gnomAD |
|
rs781115691 CA661661 |
796 | V>A | No |
ClinGen ExAC gnomAD |
|
rs748236046 CA661662 |
796 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1215346342 CA338864074 |
798 | L>P | No |
ClinGen gnomAD |
|
rs1317544011 CA338864067 |
799 | N>D | No |
ClinGen gnomAD |
|
CA338864046 rs1356655583 |
800 | V>D | No |
ClinGen gnomAD |
|
COSM425219 CA661659 rs139817126 |
800 | V>I | upper_aerodigestive_tract breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs147429225 CA338864034 |
801 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661658 rs766248541 |
801 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA661656 rs150132550 COSM903367 |
802 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs150132550 CA338864029 |
802 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs558038200 CA661655 |
803 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA338864007 rs1570444347 |
804 | I>F | No |
ClinGen Ensembl |
|
rs1187755747 CA338863995 |
805 | Q>* | No |
ClinGen TOPMed |
|
CA661653 rs776340258 |
806 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs115257742 CA661651 |
807 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs115257742 CA661652 |
807 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661650 rs775026398 |
808 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338863953 rs145153675 |
809 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145153675 CA661648 |
809 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs114545284 CA661649 |
809 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs770339243 CA661646 |
817 | K>N | No |
ClinGen ExAC gnomAD |
|
CA338863842 rs1222026892 |
818 | M>I | No |
ClinGen gnomAD |
|
CA338863846 rs1421035466 |
818 | M>T | No |
ClinGen gnomAD |
|
CA338863836 rs1245860700 |
819 | Q>K | No |
ClinGen TOPMed |
|
rs748646545 CA661645 |
821 | K>* | No |
ClinGen ExAC gnomAD |
|
CA661627 rs149211267 |
823 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770110174 CA661628 |
823 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235197360 CA338862514 |
826 | E>Q | No |
ClinGen gnomAD |
|
CA661625 rs769169857 |
827 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777029545 CA661626 |
827 | V>L | No |
ClinGen ExAC gnomAD |
|
CA338862499 rs777029545 |
827 | V>M | No |
ClinGen ExAC gnomAD |
|
CA18985799 rs1026200394 |
831 | D>E | No |
ClinGen Ensembl |
|
CA338862445 rs1557582957 |
831 | D>G | No |
ClinGen Ensembl |
|
rs772481150 CA661622 |
835 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1299243091 CA338862367 |
837 | Q>L | No |
ClinGen TOPMed |
|
rs993330925 CA18985780 |
838 | L>V | No |
ClinGen Ensembl |
|
rs1194177953 CA338862332 |
840 | K>E | No |
ClinGen gnomAD |
|
rs1327530958 CA338862303 |
842 | D>G | No |
ClinGen TOPMed |
|
CA661621 rs200369420 |
842 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338862308 rs200369420 |
842 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661620 rs778893284 |
845 | A>S | No |
ClinGen ExAC gnomAD |
|
CA338862211 rs1376188528 |
846 | T>N | No |
ClinGen gnomAD |
|
CA338862225 rs1570433580 |
846 | T>P | No |
ClinGen Ensembl |
|
CA18985752 rs750824801 |
847 | I>V | No |
ClinGen Ensembl |
|
rs577775020 CA661618 |
848 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA338862181 rs577775020 |
848 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs757864428 CA338862154 |
849 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757864428 CA661617 |
849 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1340945762 CA338862165 |
849 | R>W | No |
ClinGen gnomAD |
|
rs1557582847 CA338862115 |
851 | E>K | No |
ClinGen Ensembl |
|
CA661615 rs139517726 |
852 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661614 rs752207289 |
854 | S>F | No |
ClinGen ExAC gnomAD |
|
CA661613 rs767006007 |
855 | M>K | No |
ClinGen ExAC gnomAD |
|
rs1469710171 CA338862026 |
855 | M>V | No |
ClinGen TOPMed |
|
rs905924251 CA18985741 |
858 | Q>R | No |
ClinGen Ensembl |
|
CA18985724 rs1014637541 |
862 | E>K | No |
ClinGen Ensembl |
|
CA661611 rs113995871 |
862 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1570433476 CA338861866 |
864 | V>G | No |
ClinGen Ensembl |
|
CA661608 rs769060306 |
866 | P>L | No |
ClinGen ExAC gnomAD |
|
CA661607 rs769060306 |
866 | P>R | No |
ClinGen ExAC gnomAD |
|
CA661605 rs761234884 |
868 | I>T | No |
ClinGen ExAC gnomAD |
|
rs141369367 CA661604 |
869 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs772247964 COSM1338564 CA661603 |
869 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs141369367 CA338861841 |
869 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661602 rs148681058 |
870 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs868472952 CA18985699 |
871 | D>N | No |
ClinGen Ensembl |
|
CA661601 rs774743101 |
872 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs749049783 CA661599 |
873 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1374061088 CA338861776 |
878 | E>V | No |
ClinGen TOPMed |
|
rs1314896182 CA338861772 |
879 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1314896182 CA338861773 |
879 | K>Q | No |
ClinGen TOPMed gnomAD |
|
CA661597 rs199941525 |
882 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661596 rs34232864 |
882 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA661595 rs780726306 |
886 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141985868 CA661593 COSM110103 |
888 | E>K | lung NS skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs766027861 CA661592 |
889 | D>G | No |
ClinGen ExAC gnomAD |
|
rs954319097 CA18985650 |
889 | D>H | No |
ClinGen TOPMed |
|
rs954319097 CA338861704 |
889 | D>N | No |
ClinGen TOPMed |
|
CA661590 rs754217663 |
891 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1195634212 CA338861684 |
892 | F>L | No |
ClinGen TOPMed |
|
CA338861659 rs1233422608 |
895 | I>V | No |
ClinGen gnomAD |
|
CA338861651 rs1180454286 |
896 | P>S | No |
ClinGen gnomAD |
|
CA661586 rs768090350 |
897 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs774513929 CA661583 |
899 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144953741 CA661580 |
900 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661581 rs749520746 |
900 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661579 rs769607660 |
902 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs747847448 CA661578 |
903 | T>N | No |
ClinGen ExAC gnomAD |
|
CA338861609 rs1570433242 |
903 | T>P | No |
ClinGen Ensembl |
|
CA661577 rs781137040 |
904 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1348713519 CA338861600 |
904 | S>T | No |
ClinGen gnomAD |
|
rs1219476254 CA338861596 |
905 | L>V | No |
ClinGen gnomAD |
|
CA661576 rs756083234 |
907 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779584544 CA661557 |
910 | S>A | No |
ClinGen ExAC gnomAD |
|
rs1012342151 CA18984526 |
911 | T>S | No |
ClinGen gnomAD |
|
rs1243078145 CA338861322 |
912 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA338861318 rs1243078145 |
912 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs1476561096 CA338861330 |
912 | G>R | No |
ClinGen gnomAD |
|
rs1374243521 CA338861281 |
914 | Q>H | No |
ClinGen Ensembl |
|
CA338861231 rs1570431663 |
916 | K>N | No |
ClinGen Ensembl |
|
CA338860883 rs1265591759 |
917 | P>L | No |
ClinGen gnomAD |
|
CA338861220 rs1463908475 |
917 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs376988005 CA661555 |
919 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200150083 CA661554 |
919 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200150083 CA18984494 |
919 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338860857 rs1209001003 |
920 | K>Q | No |
ClinGen TOPMed |
|
rs1570431620 CA338860843 |
921 | T>P | No |
ClinGen Ensembl |
|
rs530985178 CA661553 |
922 | S>C | No |
ClinGen 1000Genomes ExAC |
|
rs184119745 CA18984487 |
922 | S>T | No |
ClinGen 1000Genomes |
|
CA18984482 rs370376315 |
924 | A>G | No |
ClinGen ESP TOPMed |
|
rs1354237292 CA338860810 |
924 | A>T | No |
ClinGen TOPMed |
|
CA338860785 rs1242421094 |
926 | N>D | No |
ClinGen TOPMed |
|
rs753167464 CA338860780 |
926 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753167464 CA661552 |
926 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755577581 CA661550 |
927 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338860762 rs1384893072 |
928 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs766746687 CA661548 |
929 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1172021731 CA338860716 |
931 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs773948871 CA661520 |
932 | E>G | No |
ClinGen ExAC gnomAD |
|
rs149655237 CA661521 |
932 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_023528 rs631357 CA661519 |
933 | D>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA338860121 rs1406427087 |
934 | D>N | No |
ClinGen gnomAD |
|
CA661518 rs748758210 |
935 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA18981494 rs942654205 |
935 | R>S | No |
ClinGen Ensembl |
|
CA18981486 rs912829749 |
936 | Y>F | No |
ClinGen gnomAD |
|
rs1457770099 CA338860046 |
937 | R>K | No |
ClinGen gnomAD |
|
rs769503970 CA661515 |
937 | R>S | No |
ClinGen ExAC gnomAD |
|
CA338860002 rs1330144121 |
939 | M>R | No |
ClinGen gnomAD |
|
CA661511 rs369950539 |
940 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661510 rs746331222 |
940 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369950539 CA661512 |
940 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146340669 CA661508 |
942 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA661509 rs779099245 |
942 | R>W | No |
ClinGen ExAC gnomAD |
|
CA18981376 rs918800612 |
943 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA338859883 rs1216441576 |
946 | E>K | No |
ClinGen gnomAD |
|
rs764308721 CA661506 |
947 | N>D | No |
ClinGen ExAC gnomAD |
|
CA661504 rs769167703 |
948 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661502 rs144236031 |
950 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1386500234 CA338859746 |
952 | Y>F | No |
ClinGen gnomAD |
|
CA338859716 rs1298712226 |
954 | R>P | No |
ClinGen TOPMed |
|
CA338859721 rs1298712226 |
954 | R>Q | No |
ClinGen TOPMed |
|
CA338859695 rs1417729108 |
955 | S>F | No |
ClinGen gnomAD |
|
CA18981331 rs934975745 |
957 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA338859657 rs1570426137 |
957 | R>W | No |
ClinGen Ensembl |
|
CA661498 rs766378781 |
958 | A>T | No |
ClinGen ExAC gnomAD |
|
CA338859579 rs1157001562 |
960 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1304131327 CA338859587 |
960 | Q>R | No |
ClinGen TOPMed |
|
rs749750923 CA661496 |
961 | I>T | No |
ClinGen ExAC gnomAD |
|
CA338859574 rs1570426097 |
961 | I>V | No |
ClinGen Ensembl |
|
rs769629585 CA661495 |
964 | T>I | No |
ClinGen ExAC gnomAD |
|
rs528089648 CA18981292 |
965 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA661493 rs371204342 |
966 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371204342 CA661492 |
966 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA338859469 rs1266230699 |
970 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs138351244 CA661462 |
972 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs909983519 CA18980097 |
972 | H>Y | No |
ClinGen Ensembl |
|
rs758451928 CA661460 |
974 | N>K | No |
ClinGen ExAC gnomAD |
|
rs779992520 CA661461 |
974 | N>S | No |
ClinGen ExAC gnomAD |
|
CA661459 rs376184055 |
975 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1250707675 CA338859257 |
977 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA338859244 rs1570423673 |
978 | G>R | No |
ClinGen Ensembl |
|
rs150479537 CA661457 |
979 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
CA661456 rs753326202 |
979 | L>P | No |
ClinGen ExAC gnomAD |
|
CA18980079 rs982482345 |
981 | C>* | No |
ClinGen TOPMed gnomAD |
|
CA338859193 rs1248691105 |
982 | P>L | No |
ClinGen gnomAD |
|
rs1248691105 CA338859197 |
982 | P>Q | No |
ClinGen gnomAD |
|
rs1026911845 CA18980073 |
986 | N>T | No |
ClinGen TOPMed |
|
CA661453 rs368653467 |
988 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338859092 rs1289171004 |
992 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA338859070 rs1175259431 |
993 | Q>P | No |
ClinGen TOPMed |
|
CA338859049 rs1304705468 |
994 | A>D | No |
ClinGen gnomAD |
|
rs1035758826 CA18980063 |
994 | A>T | No |
ClinGen TOPMed |
|
CA338858990 rs1405795990 |
997 | M>K | No |
ClinGen gnomAD |
|
CA338858960 rs1389913702 |
999 | Q>* | No |
ClinGen gnomAD |
|
CA338858953 rs1189345846 |
999 | Q>P | No |
ClinGen TOPMed |
|
CA338858939 rs1161395137 |
1000 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA338858943 rs1161395137 |
1000 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA338858919 rs574381737 |
1001 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA338858924 rs574381737 |
1001 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM182818 CA661451 rs574381737 |
1001 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs771261049 CA661452 |
1001 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1570423458 CA338858900 |
1003 | F>L | No |
ClinGen Ensembl |
|
rs370246172 CA661450 |
1004 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM903327 rs770268573 CA661449 |
1004 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA338858861 rs1570423428 |
1005 | L>P | No |
ClinGen Ensembl |
|
CA18980046 rs763275738 |
1006 | E>K | No |
ClinGen gnomAD |
|
rs781316184 CA661447 |
1007 | S>C | No |
ClinGen ExAC gnomAD |
|
CA661446 rs768825310 |
1008 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA661444 rs780045651 |
1009 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758290008 CA661443 |
1010 | I>V | No |
ClinGen ExAC gnomAD |
|
CA338858659 rs1227913401 |
1016 | K>N | No |
ClinGen gnomAD |
|
rs147784710 CA661442 |
1017 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377443985 CA661441 |
1017 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377443985 CA338858644 |
1017 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1321451203 CA338858556 |
1021 | K>R | No |
ClinGen gnomAD |
|
CA18980011 rs879085340 |
1022 | S>T | No |
ClinGen Ensembl |
|
rs1031897189 CA18980010 |
1023 | N>S | No |
ClinGen TOPMed |
|
rs199731544 CA18979992 |
1028 | P>H | No |
ClinGen TOPMed |
|
CA338858390 rs199731544 |
1028 | P>R | No |
ClinGen TOPMed |
|
CA338858397 rs1389352826 |
1028 | P>S | No |
ClinGen gnomAD |
No associated diseases with Q9P2E2
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR47969 | CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED |
PANTHER Subfamily | PTHR47969:SF32 | KINESIN-LIKE PROTEIN |
PANTHER Protein Class |
cytoskeletal protein
microtubule binding motor protein microtubule or microtubule-binding cytoskeletal protein |
|
PANTHER Pathway Category | No pathway information available |
11 GO annotations of cellular component
Name | Definition |
---|---|
axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
dendrite cytoplasm | All of the contents of a dendrite, excluding the surrounding plasma membrane. |
kinesin complex | Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work. |
microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
periciliary membrane compartment | A plasma membrane region adjacent to the base of eukaryotic cilia and flagella that is enriched in endocytosis-associated proteins and vesicles and that appears to regulate ciliary membrane homeostasis. |
photoreceptor connecting cilium | The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
plus-end-directed microtubule motor activity | A motor activity that generates movement along a microtubule toward the plus end, driven by ATP hydrolysis. |
5 GO annotations of biological process
Name | Definition |
---|---|
anterograde dendritic transport of neurotransmitter receptor complex | The directed movement of a neurotransmitter receptor complex along microtubules in nerve cell dendrites towards the postsynapse. |
cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
13 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P33176 | KIF5B | Kinesin-1 heavy chain | Homo sapiens (Human) | EV |
O60282 | KIF5C | Kinesin heavy chain isoform 5C | Homo sapiens (Human) | EV |
Q12840 | KIF5A | Kinesin heavy chain isoform 5A | Homo sapiens (Human) | EV |
Q2M1P5 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens (Human) | EV |
Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
O75037 | KIF21B | Kinesin-like protein KIF21B | Homo sapiens (Human) | EV |
O00139 | KIF2A | Kinesin-like protein KIF2A | Homo sapiens (Human) | PR |
Q9NQT8 | KIF13B | Kinesin-like protein KIF13B | Homo sapiens (Human) | EV |
Q9H1H9 | KIF13A | Kinesin-like protein KIF13A | Homo sapiens (Human) | SS |
O43896 | KIF1C | Kinesin-like protein KIF1C | Homo sapiens (Human) | SS |
Q99PW8 | Kif17 | Kinesin-like protein KIF17 | Mus musculus (Mouse) | SS |
P46864 | KIN14M | Kinesin-like protein KIN-14M | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MASEAVKVVV | RCRPMNQRER | ELRCQPVVTV | DCARAQCCIQ | NPGAADEPPK | QFTFDGAYHV |
70 | 80 | 90 | 100 | 110 | 120 |
DHVTEQIYNE | IAYPLVEGVT | EGYNGTIFAY | GQTGSGKSFT | MQGLPDPPSQ | RGIIPRAFEH |
130 | 140 | 150 | 160 | 170 | 180 |
VFESVQCAEN | TKFLVRASYL | EIYNEDVRDL | LGADTKQKLE | LKEHPEKGVY | VKGLSMHTVH |
190 | 200 | 210 | 220 | 230 | 240 |
SVAQCEHIME | TGWKNRSVGY | TLMNKDSSRS | HSIFTISIEM | SAVDERGKDH | LRAGKLNLVD |
250 | 260 | 270 | 280 | 290 | 300 |
LAGSERQSKT | GATGERLKEA | TKINLSLSAL | GNVISALVDG | RCKHVPYRDS | KLTRLLQDSL |
310 | 320 | 330 | 340 | 350 | 360 |
GGNTKTLMVA | CLSPADNNYD | ETLSTLRYAN | RAKNIRNKPR | INEDPKDALL | REYQEEIKKL |
370 | 380 | 390 | 400 | 410 | 420 |
KAILTQQMSP | SSLSALLSRQ | VPPDPVQVEE | KLLPQPVIQH | DVEAEKQLIR | EEYEERLARL |
430 | 440 | 450 | 460 | 470 | 480 |
KADYKAEQES | RARLEEDITA | MRNSYDVRLS | TLEENLRKET | EAVLQVGVLY | KAEVMSRAEF |
490 | 500 | 510 | 520 | 530 | 540 |
ASSAEYPPAF | QYETVVKPKV | FSTTDTLPSD | DVSKTQVSSR | FAELPKVEPS | KSEISLGSSE |
550 | 560 | 570 | 580 | 590 | 600 |
SSSLEETSVS | EAFPGPEEPS | NVEVSMPTEE | SRSRYFLDEC | LGQEAAGHLL | GEQNYLPQEE |
610 | 620 | 630 | 640 | 650 | 660 |
PQEVPLQGLL | GLQDPFAEVE | AKLARLSSTV | ARTDAPQADV | PKVPVQVPAP | TDLLEPSDAR |
670 | 680 | 690 | 700 | 710 | 720 |
PEAEAADDFP | PRPEVDLASE | VALEVVRTAE | PGVWLEAQAP | VALVAQPEPL | PATAGVKRES |
730 | 740 | 750 | 760 | 770 | 780 |
VGMEVAVLTD | DPLPVVDQQQ | VLARLQLLEQ | QVVGGEQAKN | KDLKEKHKRR | KRYADERRKQ |
790 | 800 | 810 | 820 | 830 | 840 |
LVAALQNSDE | DSGDWVLLNV | YDSIQEEVRA | KSKLLEKMQR | KLRAAEVEIK | DLQSEFQLEK |
850 | 860 | 870 | 880 | 890 | 900 |
IDYLATIRRQ | ERDSMLLQQL | LEQVQPLIRR | DCNYSNLEKI | LRESCWDEDN | GFWKIPHPVI |
910 | 920 | 930 | 940 | 950 | 960 |
TKTSLPVAVS | TGPQNKPARK | TSAADNGEPN | MEDDRYRLML | SRSNSENIAS | NYFRSKRASQ |
970 | 980 | 990 | 1000 | 1010 | 1020 |
ILSTDARKSL | THHNSPPGLS | CPLSNNSAIP | PTQAPEMPQP | RPFRLESLDI | PFTKAKRKKS |
KSNFGSEPL |