Q6IEE7
PR
Gene name |
TMEM132E |
Protein name |
Transmembrane protein 132E |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:124842 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6IEE7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6IEE7-F1 | Predicted | AlphaFoldDB |
957 variants for Q6IEE7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8496432 RCV001255158 rs766225189 |
128 | A>S | Hearing loss, autosomal recessive 99 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1907257569 RCV001331902 |
410 | M>V | Hearing loss, autosomal recessive 99 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8496735 VAR_073717 COSM560296 rs139895222 RCV000786004 |
510 | R>Q | lung Hearing loss, autosomal recessive 99 DFNB99 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370232097 RCV001255159 CA8496962 |
825 | P>L | Hearing loss, autosomal recessive 99 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8497025 RCV001331903 rs763524517 |
910 | I>M | Hearing loss, autosomal recessive 99 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778729513 CA8496334 |
2 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747921135 CA289923550 |
3 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8496335 rs747921135 |
3 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249399927 CA399067165 |
3 | P>S | No |
ClinGen gnomAD |
|
|
rs1477353764 CA399067180 |
5 | M>I | No |
ClinGen gnomAD |
|
|
rs746516048 CA399067195 |
8 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8496339 rs770620636 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496338 rs746516048 |
8 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1396113040 CA399067201 |
9 | G>C | No |
ClinGen gnomAD |
|
|
rs946545688 CA289923575 |
10 | G>A | No |
ClinGen gnomAD |
|
|
rs1392152138 CA399067206 |
10 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1392152138 CA399067205 |
10 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866403031 CA289923593 |
11 | A>T | No |
ClinGen Ensembl |
|
|
rs866642381 CA289923606 |
12 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399067235 rs1471201756 |
15 | C>F | No |
ClinGen gnomAD |
|
|
CA8496344 rs763274959 |
18 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs763274959 CA399067255 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774898682 CA8496346 |
20 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399067288 rs1432411641 |
22 | H>R | No |
ClinGen TOPMed |
|
|
rs1490051686 CA399067283 |
22 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA289962424 rs1046769345 |
23 | A>V | No |
ClinGen TOPMed |
|
|
CA399070104 rs1567719339 |
24 | S>F | No |
ClinGen Ensembl |
|
|
CA399070110 rs1486472465 |
25 | G>A | No |
ClinGen gnomAD |
|
|
rs1260667542 CA399070105 |
25 | G>S | No |
ClinGen gnomAD |
|
|
rs1188729803 CA399070113 |
26 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs749658557 CA8496362 |
26 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs749658557 CA399070115 |
26 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs568193524 CA399070126 |
28 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568193524 CA8496363 |
28 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000731420 rs774704736 CA8496364 |
28 | H>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA289962488 rs867759275 |
29 | P>Q | No |
ClinGen Ensembl |
|
|
CA399070144 rs1455276813 |
31 | S>N | No |
ClinGen gnomAD |
|
|
CA289962504 rs868256899 |
32 | P>H | No |
ClinGen gnomAD |
|
|
CA399070150 rs868256899 |
32 | P>L | No |
ClinGen gnomAD |
|
|
CA289962560 rs533992168 |
34 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs533992168 CA8496369 |
34 | P>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs773257960 CA8496368 |
34 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764581147 CA8496372 |
35 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764581147 CA289962589 |
35 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496371 rs754068568 |
35 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1218535423 CA399070168 |
36 | G>W | No |
ClinGen gnomAD |
|
|
rs372634022 CA8496373 |
37 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289962623 rs1032479778 |
39 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399070194 rs1245210451 |
40 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399070199 rs1230678161 |
41 | P>A | No |
ClinGen TOPMed |
|
|
CA8496375 rs555049321 |
41 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289962626 rs555049321 |
41 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399070202 rs1408763750 |
42 | V>M | No |
ClinGen gnomAD |
|
|
rs1470139128 CA399070213 |
44 | P>S | No |
ClinGen gnomAD |
|
|
rs1470139128 CA399070215 |
44 | P>T | No |
ClinGen gnomAD |
|
|
rs1597689897 CA399070224 |
45 | V>G | No |
ClinGen Ensembl |
|
|
rs1338441267 CA399070219 |
45 | V>I | No |
ClinGen gnomAD |
|
|
CA289962653 rs998345077 |
47 | Y>C | No |
ClinGen TOPMed |
|
|
rs553628300 CA399070241 |
48 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553628300 CA399070240 |
48 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1279680312 CA399070242 |
48 | R>H | No |
ClinGen gnomAD |
|
|
rs553628300 CA8496379 |
48 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748827129 CA399070251 |
50 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA399070254 rs1216929531 |
50 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8496380 rs748827129 |
50 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA399070250 rs748827129 |
50 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1023296725 COSM184923 CA289962695 |
52 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774649666 CA8496382 |
53 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774649666 CA8496383 |
53 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399070305 rs1481662989 |
59 | R>Q | No |
ClinGen gnomAD |
|
|
CA8496386 rs760798406 |
60 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776774685 CA8496388 |
61 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399070322 rs1462773023 |
62 | R>Q | No |
ClinGen gnomAD |
|
|
CA399070320 rs1417103068 |
62 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1329164207 CA399070327 |
63 | P>L | No |
ClinGen gnomAD |
|
|
CA289962737 rs762229395 |
63 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762229395 CA8496389 |
63 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496390 rs539445182 |
64 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399070332 rs539445182 |
64 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8496391 rs539445182 |
64 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399070343 rs1301971901 |
66 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399070342 rs1301971901 |
66 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8496393 rs767556248 |
67 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289962805 rs767556248 |
67 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409349815 CA399070349 |
68 | V>I | No |
ClinGen gnomAD |
|
|
rs1273994747 CA399070357 |
69 | A>S | No |
ClinGen gnomAD |
|
|
rs1273994747 CA399070355 |
69 | A>T | No |
ClinGen gnomAD |
|
|
rs1309473926 CA399070360 |
69 | A>V | No |
ClinGen gnomAD |
|
|
rs1220440178 CA399070366 |
70 | N>S | No |
ClinGen gnomAD |
|
|
CA289962848 rs942784325 |
71 | S>N | No |
ClinGen Ensembl |
|
|
rs779393561 CA8496397 |
72 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1217434252 CA399070388 |
74 | Q>* | No |
ClinGen gnomAD |
|
|
rs1474961865 CA399070396 |
75 | R>C | No |
ClinGen gnomAD |
|
|
rs1168223826 CA399070405 |
76 | S>F | No |
ClinGen gnomAD |
|
|
rs754603575 CA8496399 |
77 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422353051 CA399070406 |
77 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399070415 rs1365632708 |
78 | P>T | No |
ClinGen gnomAD |
|
|
CA399070426 rs1406191381 |
79 | F>L | No |
ClinGen gnomAD |
|
|
CA399070428 rs200982924 |
80 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200982924 CA8496400 |
80 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3402774 CA8496401 rs748511938 |
83 | Q>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA289962890 rs971008822 |
84 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs147874855 CA8496403 |
86 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144668878 CA8496402 |
86 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399070472 rs747404686 |
87 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776520313 CA8496406 |
88 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1054611173 CA289962926 |
89 | V>F | No |
ClinGen gnomAD |
|
|
CA8496408 rs770107846 |
90 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894687958 CA289962939 |
93 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1271785056 CA399070507 |
93 | S>P | No |
ClinGen TOPMed |
|
|
rs767355812 CA8496411 |
94 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1011967633 CA289962960 |
96 | P>R | No |
ClinGen Ensembl |
|
|
CA399070534 rs1156294124 |
98 | S>G | No |
ClinGen gnomAD |
|
|
rs1282966414 CA399070545 |
99 | T>N | No |
ClinGen TOPMed |
|
|
CA289962961 rs755611078 |
102 | V>M | No |
ClinGen Ensembl |
|
|
rs1383525079 CA399070569 |
103 | V>M | No |
ClinGen gnomAD |
|
|
CA399070575 rs1400604949 |
104 | A>T | No |
ClinGen gnomAD |
|
|
CA399070583 rs760483390 |
105 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496413 rs760483390 |
105 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399070582 rs1391319195 |
105 | R>W | No |
ClinGen gnomAD |
|
|
CA8496414 rs766389805 |
106 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1277850134 CA399070607 |
109 | Q>R | No |
ClinGen gnomAD |
|
|
rs1567719522 CA399070623 |
112 | S>C | No |
ClinGen Ensembl |
|
|
CA8496417 rs754552346 |
112 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8496418 rs369122850 |
113 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597690050 CA399070630 |
113 | T>P | No |
ClinGen Ensembl |
|
|
rs747420328 CA8496422 |
118 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771316857 CA8496423 |
119 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496425 rs141502241 |
119 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8496424 rs141502241 |
119 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399070682 rs1470156255 |
122 | V>M | No |
ClinGen gnomAD |
|
|
CA8496428 rs749482561 |
125 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs768945189 CA8496429 |
125 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA399070712 rs1567719550 |
126 | V>L | No |
ClinGen Ensembl |
|
|
rs772862890 CA8496430 RCV000591922 |
127 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA399070725 rs1397974327 |
128 | A>V | No |
ClinGen gnomAD |
|
|
CA8496433 rs776690930 |
129 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs909710873 CA289963053 |
130 | I>N | No |
ClinGen gnomAD |
|
|
rs984483614 CA289963052 |
130 | I>V | No |
ClinGen Ensembl |
|
|
rs1239809683 CA399070740 |
131 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1239809683 CA399070738 |
131 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1239809683 CA399070739 |
131 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs372929322 CA8496434 |
132 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399070748 rs372929322 |
132 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8496437 rs757992923 |
134 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1193739396 CA399070770 |
136 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1193739396 CA399070771 |
136 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8496438 rs763854856 |
136 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1382363 CA399070773 rs1437910960 |
137 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1183636597 CA399070784 COSM472574 |
138 | S>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA399070797 rs1222489520 |
140 | P>R | No |
ClinGen TOPMed |
|
|
CA399070805 rs1176210723 |
142 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399070822 rs1372992207 |
144 | V>E | No |
ClinGen TOPMed |
|
|
CA289963101 rs922708274 |
145 | L>M | No |
ClinGen gnomAD |
|
|
rs756692115 CA8496443 |
147 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA399070844 rs1567719582 |
148 | V>I | No |
ClinGen Ensembl |
|
|
CA399070858 rs1295104994 |
150 | G>D | No |
ClinGen gnomAD |
|
|
CA8496444 rs780232333 |
150 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1283794089 CA399070864 |
151 | R>Q | No |
ClinGen gnomAD |
|
|
CA399070877 rs1250429424 |
153 | W>* | No |
ClinGen gnomAD |
|
|
rs533205384 CA8496448 CA399070888 |
154 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749429771 CA8496445 |
154 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746770614 CA8496449 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151214976 CA8496450 |
157 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751042129 CA399070913 |
158 | V>A | No |
ClinGen gnomAD |
|
|
CA289963183 rs751042129 |
158 | V>G | No |
ClinGen gnomAD |
|
|
rs1462663650 CA399070914 |
159 | T>A | No |
ClinGen gnomAD |
|
|
CA399070916 rs1462663650 |
159 | T>P | No |
ClinGen gnomAD |
|
|
CA8496452 rs759425337 |
161 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424057357 CA399070928 |
161 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA399070939 rs1369573055 |
163 | P>S | No |
ClinGen gnomAD |
|
|
rs1244537199 CA399070950 |
164 | C>W | No |
ClinGen TOPMed |
|
|
rs1478804873 CA399070946 |
164 | C>Y | No |
ClinGen TOPMed |
|
|
rs1326694863 CA399070960 |
166 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399070966 rs1289078946 |
167 | L>P | No |
ClinGen gnomAD |
|
|
rs1222496878 CA399070971 |
168 | H>P | No |
ClinGen gnomAD |
|
|
rs1488306965 CA399070981 |
169 | A>V | No |
ClinGen TOPMed |
|
|
rs762487495 CA8496455 |
170 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1489752978 CA399070990 |
171 | R>W | No |
ClinGen gnomAD |
|
|
CA399070994 rs1185185026 |
172 | D>N | No |
ClinGen gnomAD |
|
|
rs1288806270 CA399071006 |
173 | A>G | No |
ClinGen TOPMed |
|
|
rs1261443520 CA399071008 |
174 | R>G | No |
ClinGen gnomAD |
|
|
rs763647298 CA8496456 |
174 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261443520 CA399071009 |
174 | R>W | No |
ClinGen gnomAD |
|
|
CA399071012 rs1190791058 |
175 | E>K | No |
ClinGen gnomAD |
|
|
CA399071020 rs1444102041 |
176 | V>L | No |
ClinGen gnomAD |
|
|
CA625782055 rs1165557941 |
178 | S>G | No |
ClinGen gnomAD |
|
|
CA625782056 rs1351611782 |
178 | S>N | No |
ClinGen gnomAD |
|
|
CA8496457 rs751281806 |
179 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8496458 rs756872542 |
180 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs767855555 CA625782058 |
181 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs767855555 CA8496459 |
181 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs982228081 CA289963220 |
181 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767855555 CA625782057 |
181 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs756667468 CA8496461 |
183 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA728340312 rs1400724135 |
185 | G>D | No |
ClinGen TOPMed |
|
|
rs780749166 CA8496462 |
187 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749376369 CA289963227 |
188 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1300019381 CA728340316 |
188 | T>I | No |
ClinGen TOPMed |
|
|
rs1300019381 CA2257140321 |
188 | T>N | No |
ClinGen TOPMed |
|
|
CA8496463 rs749376369 |
188 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA289963240 rs61322129 |
190 | L>M | No |
ClinGen Ensembl |
|
|
CA728340334 rs1451506055 |
191 | V>M | No |
ClinGen TOPMed |
|
|
rs1465637654 CA625782060 |
192 | R>Q | No |
ClinGen gnomAD |
|
|
rs1486466197 CA625782061 |
193 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA728340347 rs1415890824 |
204 | A>D | No |
ClinGen TOPMed |
|
|
rs1167506930 CA625782025 |
205 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA728340365 rs1366461964 |
206 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA625782026 rs1366461964 |
206 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1301696229 CA625782028 |
209 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1310769024 CA728340379 |
212 | R>C | No |
ClinGen TOPMed |
|
|
CA289963273 rs909784390 |
212 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA728340394 rs1219454373 |
215 | S>F | No |
ClinGen TOPMed |
|
|
rs1320151231 CA728340397 |
216 | P>L | No |
ClinGen TOPMed |
|
|
CA728340403 rs1380519471 |
218 | G>W | No |
ClinGen TOPMed |
|
|
CA728340422 rs1303316346 |
221 | P>T | No |
ClinGen TOPMed |
|
|
rs1013108240 CA289963277 |
222 | E>D | No |
ClinGen TOPMed |
|
|
CA289963275 rs894606203 |
222 | E>K | No |
ClinGen Ensembl |
|
|
rs557301416 CA289963278 |
223 | A>V | No |
ClinGen Ensembl |
|
|
rs1044807249 CA289963280 |
224 | T>A | No |
ClinGen Ensembl |
|
|
rs1298437033 CA728340430 |
224 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA625782030 rs1298437033 |
224 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs942734068 CA289963286 |
226 | E>K | No |
ClinGen TOPMed |
|
|
CA625782033 rs1226093898 |
229 | Q>E | No |
ClinGen gnomAD |
|
|
rs1003726532 CA289963312 |
230 | A>V | No |
ClinGen TOPMed |
|
|
rs951154562 CA14434071 |
231 | E>D | No |
ClinGen TOPMed |
|
|
CA2257140395 rs922560252 |
235 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA289963345 rs922560252 |
235 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs529230086 CA289963342 |
235 | T>P | No |
ClinGen 1000Genomes |
|
|
rs1219867318 CA625782034 |
236 | L>H | No |
ClinGen gnomAD |
|
|
rs1322350840 CA728340450 |
236 | L>I | No |
ClinGen TOPMed |
|
|
rs1313406810 CA728340462 |
237 | H>Q | No |
ClinGen TOPMed |
|
|
rs1296052291 CA728340485 |
243 | G>E | No |
ClinGen TOPMed |
|
|
rs1461065127 CA728340490 |
244 | G>C | No |
ClinGen TOPMed |
|
|
rs1259605123 CA625782037 |
245 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1167577954 CA728340496 |
247 | G>D | No |
ClinGen TOPMed |
|
|
CA289963389 rs1001659598 |
248 | S>P | No |
ClinGen Ensembl |
|
|
CA728340514 rs1443327426 |
248 | S>Y | No |
ClinGen TOPMed |
|
|
rs1241598134 CA625782039 |
249 | R>H | No |
ClinGen gnomAD |
|
|
rs903381315 CA289963408 |
249 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1182557770 CA625782041 |
250 | R>W | No |
ClinGen gnomAD |
|
|
CA289963410 rs936137467 |
251 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1416021517 CA625782042 |
251 | G>W | No |
ClinGen gnomAD |
|
|
rs568337068 CA2257140435 |
252 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568337068 CA8496466 |
252 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568337068 CA8496465 |
252 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA625782044 rs1458628928 |
253 | G>E | No |
ClinGen gnomAD |
|
|
CA625782043 rs1412534240 |
253 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8496470 rs769685682 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8496468 rs780912440 |
254 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780912440 CA8496469 |
254 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496471 rs775469705 CA728340552 |
255 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496472 rs762355314 |
256 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496474 rs773737975 |
257 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768152232 CA8496473 |
257 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8496475 rs761486072 |
258 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496476 rs767329193 |
258 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239387971 CA625782049 |
259 | R>Q | No |
ClinGen gnomAD |
|
|
CA8496477 rs376311857 |
260 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8496478 rs376311857 |
260 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA625782051 rs1252520423 |
263 | P>S | No |
ClinGen gnomAD |
|
|
CA728340592 rs1422156097 |
265 | Q>* | No |
ClinGen TOPMed |
|
|
rs1365514338 CA399071028 |
265 | Q>L | No |
ClinGen TOPMed |
|
|
CA8496481 rs547524578 |
266 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547524578 CA399071033 |
266 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752738711 CA8496484 |
267 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399071039 rs1414785504 |
267 | P>T | No |
ClinGen gnomAD |
|
|
CA399071051 rs1164151296 |
269 | L>Q | No |
ClinGen gnomAD |
|
|
CA8496487 rs570477617 |
270 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8496488 rs570477617 |
270 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1412192829 CA399071061 |
271 | I>T | No |
ClinGen gnomAD |
|
|
CA8496489 rs539506500 |
271 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399071090 rs1197367231 |
275 | S>N | No |
ClinGen TOPMed |
|
|
rs1220110126 CA399071094 |
276 | L>V | No |
ClinGen gnomAD |
|
|
CA8496492 rs773891429 |
277 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA289963527 rs924629587 |
278 | R>C | No |
ClinGen gnomAD |
|
|
CA8496493 rs761269980 COSM1268029 |
278 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA289963545 rs112533143 |
279 | P>A | No |
ClinGen TOPMed |
|
|
rs771848976 CA8496494 |
279 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771848976 CA399071111 |
279 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8496496 rs570912462 |
280 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766786521 CA8496498 |
280 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA289963562 rs570912462 |
280 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496497 rs570912462 |
280 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760043119 CA8496501 |
281 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496500 rs760043119 |
281 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399071117 rs1268012281 |
281 | P>S | No |
ClinGen gnomAD |
|
|
CA8496502 rs752786544 |
282 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371889902 CA399071158 |
287 | E>D | No |
ClinGen gnomAD |
|
|
rs751721266 CA8496505 |
288 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8496506 rs757473350 |
289 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8496507 rs779783541 |
291 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA399071185 rs1360182989 |
292 | S>G | No |
ClinGen gnomAD |
|
|
rs754913542 CA8496509 |
292 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA399071202 rs1275573215 |
294 | L>P | No |
ClinGen gnomAD |
|
|
rs1344415237 CA399071211 |
295 | M>I | No |
ClinGen gnomAD |
|
|
CA399071221 rs990374344 |
297 | R>C | No |
ClinGen gnomAD |
|
|
rs990374344 CA289963616 |
297 | R>G | No |
ClinGen gnomAD |
|
|
CA399071222 rs916177288 |
297 | R>H | No |
ClinGen gnomAD |
|
|
CA289963625 rs916177288 |
297 | R>L | No |
ClinGen gnomAD |
|
|
CA399071220 rs990374344 |
297 | R>S | No |
ClinGen gnomAD |
|
|
rs1223548890 CA399071241 |
300 | D>E | No |
ClinGen gnomAD |
|
|
CA399071246 rs1474930655 |
301 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399071245 rs1474930655 |
301 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399071244 rs1240119605 |
301 | R>W | No |
ClinGen gnomAD |
|
|
CA8496510 rs778783888 |
302 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs948976828 CA289963630 |
303 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs757919481 CA289963633 |
304 | K>R | No |
ClinGen Ensembl |
|
|
rs1442253276 CA399071267 |
305 | P>S | No |
ClinGen gnomAD |
|
|
CA289963645 rs201442543 |
306 | G>E | No |
ClinGen Ensembl |
|
|
rs1390727052 CA399071271 |
306 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8496512 rs377511363 |
308 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377511363 CA8496513 |
308 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8496516 rs770733406 |
318 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243962719 CA399071357 |
319 | S>C | No |
ClinGen gnomAD |
|
|
CA399071354 rs1367608702 |
319 | S>P | No |
ClinGen gnomAD |
|
|
CA8496517 rs150343983 |
321 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480179674 CA399071386 |
324 | S>T | No |
ClinGen TOPMed |
|
|
rs112576629 CA399071394 |
325 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112576629 CA8496519 |
325 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775916369 CA8496520 |
326 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763462557 CA8496521 |
326 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399071403 rs1249570552 |
327 | V>M | No |
ClinGen gnomAD |
|
|
rs749231774 CA289963676 |
328 | E>K | No |
ClinGen Ensembl |
|
|
CA399071416 rs1239488255 |
329 | H>N | No |
ClinGen gnomAD |
|
|
CA8496522 rs764093571 |
331 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs767767355 CA8496542 |
334 | V>E | No |
ClinGen ExAC |
|
|
rs761947697 CA8496541 |
334 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs950923559 CA289964509 |
336 | A>T | No |
ClinGen TOPMed |
|
|
CA8496545 rs764904564 |
340 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8496547 rs374055279 |
341 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273257645 CA399071511 |
342 | L>F | No |
ClinGen gnomAD |
|
|
CA289964523 rs531076160 |
344 | G>D | No |
ClinGen 1000Genomes |
|
|
rs140894465 CA8496548 |
346 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79883914 CA289964557 |
348 | R>G | No |
ClinGen gnomAD |
|
|
rs756772108 CA8496550 |
348 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289964558 rs756772108 |
348 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79883914 CA399071546 |
348 | R>W | No |
ClinGen gnomAD |
|
|
CA8496552 rs745443340 |
351 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs745443340 CA399071565 |
351 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8496554 rs144636245 |
352 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1467746093 CA399071572 |
352 | W>* | No |
ClinGen gnomAD |
|
|
COSM3795457 CA8496555 rs201413456 |
356 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs199920260 CA399071611 |
358 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399071636 rs1386659773 |
362 | A>V | No |
ClinGen TOPMed |
|
|
CA399071639 rs1158554032 |
363 | K>E | No |
ClinGen TOPMed |
|
|
rs1597691046 CA399071651 |
364 | H>P | No |
ClinGen Ensembl |
|
|
CA8496561 rs760762645 |
369 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773374702 CA8496560 |
369 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766676060 CA8496563 |
370 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766676060 CA8496562 |
370 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399071688 rs1296370242 |
371 | V>M | No |
ClinGen gnomAD |
|
|
CA399071694 rs138528097 |
372 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138528097 CA8496564 |
372 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431287049 CA399071706 |
373 | W>C | No |
ClinGen TOPMed |
|
|
rs932319012 CA289964597 |
374 | A>D | No |
ClinGen TOPMed |
|
|
rs1206603040 CA399071708 |
374 | A>T | No |
ClinGen gnomAD |
|
|
rs764106938 CA8496565 |
375 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA399071724 rs1487787165 |
376 | S>T | No |
ClinGen gnomAD |
|
|
rs757221283 CA8496567 |
378 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496566 rs751481389 |
378 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399071744 rs1186942396 |
380 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1389721678 CA399071748 |
380 | P>L | No |
ClinGen gnomAD |
|
|
rs986980581 CA289964621 |
381 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8496588 rs765888802 |
384 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496589 rs753423145 |
385 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA399071799 rs1396038391 |
387 | P>S | No |
ClinGen gnomAD |
|
|
CA8496593 rs748597408 |
390 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA8496594 rs758803530 |
392 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496596 rs747050828 |
397 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA8496600 rs776858523 |
399 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs774266832 CA8496602 |
399 | N>K | No |
ClinGen ExAC |
|
|
rs776858523 CA8496599 |
399 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776858523 CA8496598 |
399 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA8496603 rs767352735 |
400 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA399071899 rs1182503638 |
401 | T>I | No |
ClinGen gnomAD |
|
|
CA8496604 rs199693695 |
401 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760532704 CA8496605 |
402 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1471549829 CA399071920 |
404 | S>* | No |
ClinGen gnomAD |
|
|
CA8496606 rs765833362 |
405 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA399071937 rs376665855 |
407 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376665855 COSM1229548 CA8496608 |
407 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM460370 CA8496607 rs371393529 |
407 | R>W | cervix large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8496610 rs141440992 |
409 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758860010 CA8496611 |
411 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399071970 rs1304050409 |
412 | H>D | No |
ClinGen gnomAD |
|
|
CA8496612 rs778015631 |
412 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289964868 rs992654251 |
413 | I>T | No |
ClinGen Ensembl |
|
|
rs1408563278 CA399071983 |
414 | D>N | No |
ClinGen gnomAD |
|
|
CA8496614 rs564573738 |
416 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781374708 CA8496615 |
416 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399071999 rs781374708 |
416 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564573738 CA8496613 |
416 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs955777587 CA289964878 |
417 | G>D | No |
ClinGen TOPMed |
|
|
CA8496617 rs200663611 |
419 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399072020 rs771832453 |
420 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399072019 rs771832453 |
420 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200525802 CA8496619 |
420 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200525802 CA8496620 |
420 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496621 rs771832453 |
420 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496622 rs772911360 |
422 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8496623 rs760611085 |
425 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1382364 rs759110289 CA8496626 |
426 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200677547 CA8496625 |
426 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289964959 rs938563074 |
427 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8496630 rs764481730 |
431 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8496632 rs148162202 |
432 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550910621 CA8496636 |
436 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141962331 CA8496635 |
436 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399072118 rs1275347094 |
437 | D>E | No |
ClinGen gnomAD |
|
|
rs1204451336 CA399072112 |
437 | D>N | No |
ClinGen gnomAD |
|
|
COSM303409 rs749485751 CA8496637 |
438 | V>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1245338332 CA399072174 |
446 | M>I | No |
ClinGen TOPMed |
|
|
CA399072168 rs1245936200 |
446 | M>L | No |
ClinGen gnomAD |
|
|
rs777600036 CA8496639 |
446 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761571136 CA399072192 |
447 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA399072188 rs1445842805 |
447 | D>N | No |
ClinGen gnomAD |
|
|
CA8496673 rs761571136 |
447 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA399072196 rs1356963711 |
448 | T>A | No |
ClinGen gnomAD |
|
|
CA8496674 rs767953429 |
448 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8496675 rs773733382 |
449 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761220619 CA8496676 |
450 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA289965746 rs897534542 |
451 | I>V | No |
ClinGen Ensembl |
|
|
rs150666637 CA8496678 |
452 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8496679 rs755068751 |
453 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237478091 CA399072231 |
454 | A>T | No |
ClinGen gnomAD |
|
|
rs1190637689 CA399072243 |
455 | I>M | No |
ClinGen gnomAD |
|
|
rs758654512 CA8496682 |
458 | G>R | No |
ClinGen ExAC |
|
|
rs368041322 CA8496684 |
459 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456985738 CA399072261 |
459 | R>W | No |
ClinGen gnomAD |
|
|
CA399072280 rs1048973713 |
462 | A>G | No |
ClinGen gnomAD |
|
|
rs1048973713 CA289965783 |
462 | A>V | No |
ClinGen gnomAD |
|
|
rs756049921 CA8496685 |
463 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs779924004 CA8496686 |
463 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8496687 rs748818128 |
467 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs767993188 CA8496688 |
470 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747753813 CA8496690 |
471 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465451942 CA399072341 |
472 | V>G | No |
ClinGen TOPMed |
|
|
rs771898286 CA8496691 |
472 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA289965824 rs140861460 |
473 | N>T | No |
ClinGen ESP TOPMed |
|
|
CA8496693 rs761010143 |
475 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496696 rs56879769 RCV000993235 |
476 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8496698 rs752801034 |
479 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA399072390 rs764343494 |
481 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1229549 CA8496700 rs764343494 |
481 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8496701 rs750215210 |
484 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA399072406 rs750215210 |
484 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1436584369 CA399072410 |
484 | E>V | No |
ClinGen gnomAD |
|
|
rs1450940066 CA399072427 |
486 | E>D | No |
ClinGen gnomAD |
|
|
CA8496703 rs370772171 COSM1679715 |
486 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA399072430 rs1335423607 |
487 | S>A | No |
ClinGen TOPMed |
|
|
rs749114183 CA8496704 |
488 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1308840362 COSM3819288 CA399072443 |
489 | N>D | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs754965509 CA8496705 |
493 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs778543780 CA399072484 |
494 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1429127292 CA399072499 |
495 | V>L | No |
ClinGen gnomAD |
|
|
rs1366629817 CA399072513 |
497 | S>T | No |
ClinGen gnomAD |
|
|
rs746287237 CA8496730 |
498 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8496732 RCV000238710 rs199796805 |
502 | V>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA399072571 rs1432472485 |
505 | S>N | No |
ClinGen gnomAD |
|
|
rs763466562 COSM3795458 CA8496733 |
508 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1597692660 CA399072615 |
512 | S>A | No |
ClinGen Ensembl |
|
|
CA8496736 rs774521307 |
512 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761917885 CA8496737 |
513 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA399072622 rs761917885 |
513 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1339224216 CA399072619 |
513 | M>V | No |
ClinGen gnomAD |
|
|
rs767820561 CA8496738 |
514 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8496740 rs759460554 |
515 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758682620 CA289967247 |
516 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399072650 rs1597692688 |
518 | T>P | No |
ClinGen Ensembl |
|
|
rs752613375 CA8496742 |
520 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496743 rs200983961 |
520 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200983961 CA399072666 |
520 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780627824 CA8496747 |
522 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs751132995 CA8496745 COSM1724346 |
522 | D>N | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA399072677 rs751132995 |
522 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157985488 CA399072684 |
523 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399072683 rs746220341 |
523 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496748 rs746220341 |
523 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289967289 rs376405740 |
525 | N>S | No |
ClinGen Ensembl |
|
|
rs780401431 CA8496750 |
526 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760312005 CA289967298 |
527 | P>A | No |
ClinGen gnomAD |
|
|
CA399072706 rs760312005 COSM977728 |
527 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA399072722 rs1355678080 |
529 | E>D | No |
ClinGen gnomAD |
|
|
rs747429146 CA8496752 |
531 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399072736 rs1362130073 |
531 | T>I | No |
ClinGen TOPMed |
|
|
rs1294370776 CA399072737 |
532 | V>I | No |
ClinGen gnomAD |
|
|
CA399072769 rs1357772953 |
536 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM4151583 CA289967329 rs768315237 |
538 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs774263307 CA8496753 |
541 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269881302 CA399072823 |
545 | D>N | No |
ClinGen gnomAD |
|
|
CA8496754 rs748325131 |
546 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1317708511 CA399072837 |
547 | R>C | No |
ClinGen gnomAD |
|
|
rs145662083 CA8496755 |
547 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399072839 rs145662083 |
547 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399072870 rs1256491748 |
552 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1431985436 CA399072874 |
552 | K>R | No |
ClinGen TOPMed |
|
|
rs1482942125 CA399072877 |
553 | G>S | No |
ClinGen gnomAD |
|
|
rs1267241510 CA399072898 |
555 | R>S | No |
ClinGen TOPMed |
|
|
CA8496757 rs201374665 |
560 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399072934 rs1408318424 |
561 | D>E | No |
ClinGen gnomAD |
|
|
rs765080075 CA399072929 |
561 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765080075 CA8496758 |
561 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM977730 CA8496761 rs373076058 |
562 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148901847 COSM184925 CA8496759 |
562 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed |
|
CA399065842 rs762912026 |
566 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496780 rs763927718 COSM3362077 |
566 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762912026 CA8496779 |
566 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273557660 CA399065849 |
567 | E>G | No |
ClinGen gnomAD |
|
|
CA8496781 rs774288605 |
568 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs759300720 COSM3819289 CA289921250 |
568 | S>R | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs369653624 CA8496784 |
569 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767013178 CA8496785 |
570 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399065869 rs767013178 |
570 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767013178 CA399065870 |
570 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496786 rs142637218 |
571 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399065877 rs1195056076 |
571 | E>V | No |
ClinGen gnomAD |
|
|
CA8496788 rs199689726 |
572 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs1019325463 CA289921258 |
572 | D>Y | No |
ClinGen Ensembl |
|
|
CA8496789 rs766087029 |
574 | E>D | No |
ClinGen ExAC |
|
|
CA399065909 rs1183541809 |
576 | E>K | No |
ClinGen TOPMed |
|
|
rs755311028 CA8496791 |
578 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144686427 CA8496790 |
578 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8496793 rs753203473 COSM705549 |
579 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8496792 rs779146464 |
579 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399065932 rs1597693509 |
580 | Q>E | No |
ClinGen Ensembl |
|
|
rs1597693514 CA399065946 |
581 | S>R | No |
ClinGen Ensembl |
|
|
CA399065949 rs1163087557 |
582 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8496795 rs140959400 COSM977731 |
584 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8496796 rs200681541 |
584 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399065968 rs1256339565 |
585 | G>D | No |
ClinGen gnomAD |
|
|
rs1027951779 CA289921364 |
587 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1272339069 CA399065991 |
589 | Q>* | No |
ClinGen gnomAD |
|
|
CA399066016 rs1254963764 |
592 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8496803 rs761762301 |
594 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs542406830 CA8496806 CA8496805 |
596 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399066037 rs1193275564 |
596 | Q>K | No |
ClinGen gnomAD |
|
|
CA399066041 rs1243242593 |
596 | Q>R | No |
ClinGen gnomAD |
|
|
rs953795022 CA289921412 |
600 | Q>H | No |
ClinGen TOPMed |
|
|
rs765886922 CA8496807 |
600 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399066078 rs1417633963 |
601 | F>I | No |
ClinGen gnomAD |
|
|
rs373350095 CA8496808 |
602 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs542944906 CA399066118 |
603 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496809 rs542944906 |
603 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567722147 CA399066150 |
606 | S>F | No |
ClinGen Ensembl |
|
|
rs182080824 CA8496810 |
607 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471876791 CA399066173 |
608 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs753049541 CA8496811 |
609 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751678184 CA8496814 |
610 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs572515209 CA8496813 |
610 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757359081 CA8496815 |
611 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA399066272 rs1217410906 |
615 | M>I | No |
ClinGen TOPMed |
|
|
rs781427706 CA8496816 |
615 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA399066319 rs1349469061 |
618 | P>L | No |
ClinGen gnomAD |
|
|
rs907920171 CA289921476 |
619 | D>E | No |
ClinGen TOPMed |
|
|
CA399066340 rs1205259492 |
620 | W>C | No |
ClinGen gnomAD |
|
|
CA8496819 rs769934251 |
622 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA399066350 rs1208646475 |
622 | V>M | No |
ClinGen gnomAD |
|
|
rs778747922 CA8496820 |
623 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8496821 rs747958553 |
624 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs914467657 CA289921487 |
625 | T>S | No |
ClinGen TOPMed |
|
|
CA8496823 rs773075998 |
626 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA399066449 rs1363309629 |
630 | D>N | No |
ClinGen TOPMed |
|
|
CA8496824 rs760610543 |
631 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399066467 rs760610543 |
631 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496826 rs200998663 |
633 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8496825 rs770384316 |
633 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496827 rs759201676 |
634 | V>G | No |
ClinGen ExAC |
|
|
CA399066495 rs1305932796 |
634 | V>M | No |
ClinGen gnomAD |
|
|
rs764835141 CA8496828 |
635 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496830 rs376500448 |
636 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764571058 CA8496831 |
638 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM977734 CA8496832 rs752049579 |
638 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs150291867 CA8496834 |
640 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8496835 rs750520343 |
640 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000993237 rs75594429 CA8496836 |
641 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399066563 rs1437538552 |
642 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399066562 rs1437538552 |
642 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8496838 RCV000993238 rs111689642 |
645 | S>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1008020743 CA289921586 |
646 | S>N | No |
ClinGen Ensembl |
|
|
CA399066594 rs1316240098 |
646 | S>R | No |
ClinGen TOPMed |
|
|
rs758121847 CA8496839 |
647 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289921595 rs1010124250 |
651 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399066631 rs1391701191 |
653 | P>S | No |
ClinGen gnomAD |
|
|
CA399066645 rs1363485885 |
655 | T>S | No |
ClinGen TOPMed |
|
|
CA399066652 rs1286576106 |
656 | T>I | No |
ClinGen TOPMed |
|
|
COSM1610073 rs143181955 CA399066657 |
657 | P>H | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs143181955 CA8496844 |
657 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399066659 rs1328965332 |
658 | F>V | No |
ClinGen gnomAD |
|
|
rs1175828765 CA399066686 |
660 | V>M | No |
ClinGen TOPMed |
|
|
rs748901233 CA8496866 |
661 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8496867 rs748901233 |
661 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA399066706 rs1201784577 |
663 | P>L | No |
ClinGen TOPMed |
|
|
rs895738712 CA289921953 |
663 | P>S | No |
ClinGen TOPMed |
|
|
rs186392032 CA8496869 |
664 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399066714 rs1429069820 COSM1382365 |
665 | T>M | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8496871 rs773523236 |
666 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8496872 rs147487760 |
668 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370856382 CA8496874 |
670 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221855207 CA399066753 |
671 | E>D | No |
ClinGen TOPMed |
|
|
CA399066757 rs1384992962 |
672 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399066756 rs1287762111 |
672 | T>S | No |
ClinGen gnomAD |
|
|
CA289921986 rs1015368453 |
674 | L>M | No |
ClinGen TOPMed |
|
|
CA399066770 rs1298291308 |
675 | T>A | No |
ClinGen gnomAD |
|
|
rs765508181 CA8496876 |
675 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597694041 CA399066779 |
676 | V>G | No |
ClinGen Ensembl |
|
|
CA399066785 rs1337194894 |
677 | T>I | No |
ClinGen gnomAD |
|
|
rs750292208 CA8496880 |
679 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs372609915 CA8496879 |
679 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8496878 rs372609915 |
679 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1206834096 CA399066806 |
680 | K>N | No |
ClinGen gnomAD |
|
|
CA399066812 rs1597694062 |
681 | V>G | No |
ClinGen Ensembl |
|
|
rs1255298036 CA399066816 |
682 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756103639 CA8496881 |
683 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs779410132 CA8496882 |
684 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1416966094 CA399066847 |
687 | Q>E | No |
ClinGen gnomAD |
|
|
CA399066854 rs1363885382 |
688 | A>T | No |
ClinGen gnomAD |
|
|
rs1597694076 CA399066879 |
691 | V>G | No |
ClinGen Ensembl |
|
|
CA8496885 rs566317380 |
692 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8496887 rs772283717 |
697 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772283717 CA8496888 |
697 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496891 rs776685272 COSM3717287 |
699 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8496890 rs199957566 |
699 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8496893 rs765317464 |
700 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA399067565 rs763270663 |
701 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752852474 CA8496894 |
701 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1479500055 CA399067593 |
704 | S>R | No |
ClinGen gnomAD |
|
|
rs767172844 CA8496896 |
704 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs750281523 CA8496897 |
705 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399067640 rs1420425979 |
707 | T>S | No |
ClinGen gnomAD |
|
|
rs141863942 CA8496899 RCV000993240 |
709 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1434673822 CA399067697 |
711 | T>I | No |
ClinGen gnomAD |
|
|
rs753387690 CA8496900 |
712 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8496901 rs754469572 |
713 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388543420 CA399067750 |
716 | Q>K | No |
ClinGen gnomAD |
|
|
rs1440448059 CA399067777 |
717 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA289922044 rs546893296 |
721 | L>I | No |
ClinGen Ensembl |
|
|
rs778596704 CA8496902 |
722 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764416402 CA8496917 |
724 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289922754 rs779867137 |
726 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779867137 CA8496919 |
726 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213827981 CA399067926 |
729 | L>H | No |
ClinGen gnomAD |
|
|
CA399067932 rs1296056736 |
730 | W>* | No |
ClinGen gnomAD |
|
|
CA8496921 rs766279007 |
733 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs753785808 CA8496922 |
734 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399067991 rs1214975759 |
739 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399067992 rs1214975759 |
739 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399068010 rs1474724387 |
742 | S>A | No |
ClinGen gnomAD |
|
|
rs764818196 CA8496924 |
742 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289922797 rs1049003965 |
746 | P>S | No |
ClinGen TOPMed |
|
|
rs752287609 CA8496925 |
747 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs757979527 CA8496926 |
747 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777536709 CA8496927 |
748 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399068043 rs79922134 |
748 | D>H | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA289922807 rs79922134 |
748 | D>N | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1487505987 CA399068053 |
749 | Y>C | No |
ClinGen TOPMed |
|
|
rs1343461723 CA399068085 |
754 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757577587 CA8496929 |
757 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1597694488 CA399068110 |
758 | E>A | No |
ClinGen Ensembl |
|
|
CA399068117 rs1226891661 |
759 | H>Y | No |
ClinGen TOPMed |
|
|
CA399068131 rs1270636108 |
761 | A>S | No |
ClinGen gnomAD |
|
|
CA8496930 rs781571817 |
761 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399068142 rs1292335212 |
763 | V>L | No |
ClinGen gnomAD |
|
|
CA399068147 rs1335046610 |
764 | T>A | No |
ClinGen gnomAD |
|
|
CA399068151 rs1229625121 |
764 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399068169 rs147570260 |
767 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM241929 RCV000597084 RCV002065170 rs147570260 CA8496932 |
767 | R>Q | endometrium prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8496931 rs746328882 |
767 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368440584 CA289922838 |
768 | A>V | No |
ClinGen Ensembl |
|
|
rs1567722827 CA399068257 |
781 | E>G | No |
ClinGen Ensembl |
|
|
CA399068265 rs1390331149 |
782 | L>P | No |
ClinGen TOPMed |
|
|
rs1318148313 CA399068274 |
784 | R>C | No |
ClinGen TOPMed |
|
|
CA399068275 rs749453004 |
784 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8496934 rs749453004 |
784 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs761970894 CA8496937 |
788 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs368250167 CA8496938 |
789 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318976644 CA399068321 |
792 | S>R | No |
ClinGen gnomAD |
|
|
rs1362342027 CA399068334 |
793 | C>F | No |
ClinGen gnomAD |
|
|
rs1412752861 CA399068342 |
794 | Q>R | No |
ClinGen gnomAD |
|
|
CA399068355 rs1597694538 |
796 | T>P | No |
ClinGen Ensembl |
|
|
rs1210954113 CA399068358 |
796 | T>S | No |
ClinGen gnomAD |
|
|
CA8496939 rs776615502 |
798 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776615502 CA399068368 |
798 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496940 rs759515597 |
799 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA399068380 rs1190647232 |
800 | S>G | No |
ClinGen TOPMed |
|
|
rs752131821 CA8496942 |
800 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399068383 rs752131821 |
800 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8496943 rs757863800 |
801 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1250073047 CA399068393 |
802 | L>F | No |
ClinGen TOPMed |
|
|
CA289922896 rs904011802 |
803 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746788830 CA8496944 |
803 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751186108 CA8496945 |
804 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA289922930 rs1033885709 |
805 | T>I | No |
ClinGen TOPMed |
|
|
CA399068406 rs1597694562 |
805 | T>P | No |
ClinGen Ensembl |
|
|
CA399068412 rs1189946474 |
806 | P>S | No |
ClinGen gnomAD |
|
|
rs1231391443 CA399068427 |
808 | G>A | No |
ClinGen gnomAD |
|
|
CA399068428 rs1231391443 |
808 | G>D | No |
ClinGen gnomAD |
|
|
rs746275676 CA8496949 |
810 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289922966 COSM1268030 rs374583943 |
810 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA289922960 rs746275676 |
810 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382193074 CA399068442 |
812 | H>N | No |
ClinGen gnomAD |
|
|
rs1597694574 CA399068446 |
812 | H>R | No |
ClinGen Ensembl |
|
|
CA8496951 rs780597392 |
813 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768738956 CA399068476 |
816 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496954 rs774316167 |
817 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748378599 CA8496955 |
819 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442364304 CA399068504 |
820 | P>L | No |
ClinGen gnomAD |
|
|
rs772463310 CA8496956 |
820 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496957 rs776559866 |
821 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8496958 rs759458480 |
822 | Y>C | No |
ClinGen ExAC |
|
|
rs769722270 CA8496960 CA399068523 |
823 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399068528 rs1346232840 |
824 | Y>F | No |
ClinGen gnomAD |
|
|
rs762831654 CA8496961 |
824 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1271202374 CA399068533 |
825 | P>S | No |
ClinGen gnomAD |
|
|
CA399068536 rs1392097112 |
826 | G>S | No |
ClinGen TOPMed |
|
|
rs1240105349 CA399068543 |
827 | P>A | No |
ClinGen gnomAD |
|
|
CA289923042 rs1024368940 |
828 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1395612566 CA399068564 |
830 | P>S | No |
ClinGen gnomAD |
|
|
rs1467433000 CA399068572 |
831 | G>E | No |
ClinGen gnomAD |
|
|
rs751083949 CA399068576 |
832 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751083949 CA8496964 |
832 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496966 rs372591686 |
833 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8496965 rs372591686 |
833 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754319502 CA399068586 |
834 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754319502 CA8496970 |
834 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496969 rs780287992 |
834 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8496972 rs779019445 |
835 | G>D | No |
ClinGen ExAC |
|
|
rs755485921 CA399068588 |
835 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496971 rs755485921 |
835 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945492986 CA289923096 |
836 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399068600 rs1339064902 |
837 | D>H | No |
ClinGen gnomAD |
|
|
rs1339064902 CA399068599 |
837 | D>N | No |
ClinGen gnomAD |
|
|
rs772406178 CA399068617 |
839 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772406178 CA8496974 |
839 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778079863 CA8496976 |
840 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769670193 CA8496977 |
840 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs769670193 CA289923113 COSM977737 |
840 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778079863 CA8496975 |
840 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001098514 CA289923116 |
841 | G>A | No |
ClinGen Ensembl |
|
|
rs377008627 CA8496978 |
842 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs930452910 CA399068635 |
843 | G>A | No |
ClinGen TOPMed |
|
|
CA289923118 rs930452910 |
843 | G>D | No |
ClinGen TOPMed |
|
|
CA399068639 rs1434862471 |
844 | P>S | No |
ClinGen gnomAD |
|
|
CA8496981 rs773912095 |
847 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1013692318 CA289923127 |
848 | A>E | No |
ClinGen Ensembl |
|
|
rs1013692318 CA289923121 |
848 | A>V | No |
ClinGen Ensembl |
|
|
rs760353389 CA8496985 |
850 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs971166276 CA289923169 |
851 | A>T | No |
ClinGen gnomAD |
|
|
rs754191165 CA8496987 |
852 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs369150277 CA8496988 |
852 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758484480 CA8496991 |
853 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8496990 rs753269666 |
853 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778028752 CA8496992 |
854 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747182086 CA8496993 |
855 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771108452 CA8496994 |
856 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs749104260 CA8496996 |
857 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399068706 rs1183420503 |
857 | P>S | No |
ClinGen TOPMed |
|
|
CA399068721 rs1415326440 |
860 | A>T | No |
ClinGen gnomAD |
|
|
rs1040388292 CA289923200 |
861 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV000597501 rs1017514287 CA289923217 |
862 | P>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs372908283 CA8496999 |
863 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8497001 rs772756078 |
864 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs139925896 CA8497002 |
866 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139925896 CA399068755 |
866 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8497003 rs766010152 |
867 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA399068794 rs1313641198 |
871 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8497006 rs376143652 |
872 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759761442 CA8497005 |
872 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA399068807 rs1218648789 |
874 | P>S | No |
ClinGen gnomAD |
|
|
CA8497009 rs764249859 |
875 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1348510124 CA399068819 |
876 | G>D | No |
ClinGen TOPMed |
|
|
rs1239359643 CA399068816 |
876 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399068848 rs1597694710 |
880 | V>G | No |
ClinGen Ensembl |
|
|
rs904064618 CA289923270 |
882 | R>Q | No |
ClinGen TOPMed |
|
|
rs757497381 CA8497011 |
882 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA399068858 rs1482357729 |
883 | G>S | No |
ClinGen gnomAD |
|
|
rs781327274 CA8497012 |
883 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374045422 CA399068886 |
887 | L>P | No |
ClinGen gnomAD |
|
|
CA399068885 rs1374045422 |
887 | L>R | No |
ClinGen gnomAD |
|
|
rs1465846034 CA399068897 |
889 | I>F | No |
ClinGen gnomAD |
|
|
rs778714021 CA8497015 |
889 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8497016 rs748031574 |
890 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1033771204 CA399068924 |
893 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1033771204 CA289923377 |
893 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399068941 COSM129761 rs1160314122 |
896 | G>D | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1242241217 CA399068946 |
897 | V>L | No |
ClinGen gnomAD |
|
|
rs746554290 CA399068967 |
900 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746554290 CA8497019 |
900 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597694742 RCV000728069 |
901 | A>missing | No |
ClinVar dbSNP |
|
|
rs867189534 CA289923390 |
901 | A>D | No |
ClinGen Ensembl |
|
|
CA8497021 rs776079835 |
902 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8497022 rs759262791 |
903 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1440943580 CA399068991 |
904 | V>G | No |
ClinGen gnomAD |
|
|
rs765468751 CA8497023 |
904 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181123990 CA399068993 |
905 | F>L | No |
ClinGen gnomAD |
|
|
rs1433015362 CA399069002 |
906 | L>F | No |
ClinGen gnomAD |
|
|
rs1207601989 CA399069010 |
907 | I>T | No |
ClinGen TOPMed |
|
|
CA399069030 rs1177799841 |
910 | I>L | No |
ClinGen gnomAD |
|
|
rs1460660563 CA399069049 |
912 | F>L | No |
ClinGen gnomAD |
|
|
rs1401195625 CA399069071 |
916 | Y>F | No |
ClinGen gnomAD |
|
|
rs757230221 CA399069078 |
917 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8497028 rs757230221 |
917 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399069083 rs1370129929 |
918 | H>R | No |
ClinGen gnomAD |
|
|
CA8497029 rs767642834 |
918 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA289923451 rs867549306 COSM1493826 |
920 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs867549306 CA399069098 |
920 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs371995594 CA399069124 |
924 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM164981 CA399069118 rs1233870562 |
924 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8497033 rs143468407 |
927 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1303465074 CA399069146 |
928 | S>G | No |
ClinGen TOPMed |
|
|
CA289923471 rs895393067 |
928 | S>I | No |
ClinGen Ensembl |
|
|
rs949674753 CA289923475 |
929 | M>R | No |
ClinGen Ensembl |
|
|
rs1192210006 CA399069174 |
931 | H>Q | No |
ClinGen gnomAD |
|
|
rs1488456184 CA399069170 |
931 | H>Y | No |
ClinGen gnomAD |
|
|
rs1046506831 CA289923476 |
932 | S>C | No |
ClinGen Ensembl |
|
|
rs777625600 CA8497035 |
933 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA399069182 rs1427712225 |
933 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs369631537 CA8497036 |
934 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371952137 CA8497037 |
935 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8497039 rs539661432 CA8497040 |
941 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399069236 rs539661432 |
941 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8497041 rs775994430 |
942 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8497042 rs763469516 |
943 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359680745 CA399069261 |
945 | R>L | No |
ClinGen gnomAD |
|
|
CA399069268 rs1217785404 |
947 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762417625 CA8497045 |
948 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs774658642 CA8497044 |
948 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399069284 rs1271989429 |
949 | E>G | No |
ClinGen gnomAD |
|
|
rs1231029348 CA399069280 |
949 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1231029348 CA399069281 |
949 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1271989429 CA399069285 |
949 | E>V | No |
ClinGen gnomAD |
|
|
rs1379921174 CA399069295 |
951 | S>T | No |
ClinGen TOPMed |
|
|
CA8497048 rs150934371 |
955 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193370964 CA399069321 |
955 | G>V | No |
ClinGen gnomAD |
|
|
rs766642313 CA8497049 |
957 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766642313 CA399069333 |
957 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1162973061 CA399069351 |
960 | T>N | No |
ClinGen gnomAD |
|
|
CA8497051 rs758121856 |
962 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs576541327 CA8497052 |
963 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8497053 rs576541327 |
963 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1343335418 CA399069374 |
964 | F>S | No |
ClinGen gnomAD |
|
|
CA8497055 rs202178307 |
965 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202178307 CA399069377 |
965 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342068607 CA399069379 |
965 | C>Y | No |
ClinGen gnomAD |
|
|
CA289923614 rs976005295 |
966 | H>L | No |
ClinGen Ensembl |
|
|
CA399069391 rs1412549321 |
967 | G>S | No |
ClinGen gnomAD |
|
|
rs1298509883 CA399069400 |
968 | D>G | No |
ClinGen TOPMed |
|
|
CA289923620 rs910357535 |
968 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs910357535 CA399069398 |
968 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA289923622 rs943327248 |
969 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399069429 rs1345969268 |
972 | S>G | No |
ClinGen gnomAD |
|
|
CA8497057 rs769557776 |
973 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1210313880 CA399069441 |
974 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399069445 rs1287197214 |
974 | S>N | No |
ClinGen gnomAD |
|
|
CA8497059 rs748958185 |
976 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1597694876 CA399069466 |
977 | T>I | No |
ClinGen Ensembl |
|
|
CA399069475 rs1473191169 COSM1268028 |
979 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1405829563 CA399069484 |
980 | Q>R | No |
ClinGen gnomAD |
|
|
rs1159113694 CA399069499 |
982 | Q>K | No |
ClinGen gnomAD |
|
|
rs1282785364 CA399069501 |
982 | Q>R | No |
ClinGen Ensembl |
|
|
rs1465047952 CA399069510 |
983 | V>G | No |
ClinGen TOPMed |
|
|
CA399069511 rs1432623790 |
984 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8497064 rs772700411 |
985 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772700411 CA399069519 |
985 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772700411 CA8497063 |
985 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399069541 rs1449701671 |
988 | D>E | No |
ClinGen gnomAD |
|
|
CA289923676 rs936735329 |
988 | D>N | No |
ClinGen TOPMed |
|
|
rs754018615 CA8497067 |
991 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754018615 CA399069559 |
991 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399069571 rs1199065700 |
993 | G>D | No |
ClinGen gnomAD |
|
|
CA399069566 rs1192684254 |
993 | G>S | No |
ClinGen gnomAD |
|
|
CA8497069 rs372387205 |
995 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376595651 CA8497070 |
996 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399069584 rs1231260644 |
996 | R>Q | No |
ClinGen gnomAD |
|
|
rs1340251472 CA399069592 |
997 | D>V | No |
ClinGen TOPMed |
|
|
rs757139949 CA8497071 |
998 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399069597 rs1179251538 |
998 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399069607 rs1382061652 |
999 | A>V | No |
ClinGen gnomAD |
|
|
rs750341419 CA399069609 |
1000 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8497073 rs750341419 |
1000 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779747045 CA8497075 |
1002 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8497074 rs755619322 |
1002 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748905055 CA8497076 |
1003 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA399069633 rs1446883833 |
1004 | S>G | No |
ClinGen gnomAD |
|
|
CA289923740 rs868405675 |
1005 | S>* | No |
ClinGen Ensembl |
|
|
rs1310685486 CA399069667 |
1009 | K>R | No |
ClinGen gnomAD |
|
|
rs1379736755 CA399069673 |
1010 | R>C | No |
ClinGen gnomAD |
|
|
rs1379736755 CA399069671 |
1010 | R>S | No |
ClinGen gnomAD |
|
|
rs1473219842 CA399069687 |
1012 | R>Q | No |
ClinGen Ensembl |
|
|
rs1346079825 CA399069697 |
1014 | K>E | No |
ClinGen gnomAD |
|
|
rs1221207274 CA399069703 |
1014 | K>N | No |
ClinGen gnomAD |
|
|
rs1597694963 CA399069734 |
1019 | T>P | No |
ClinGen Ensembl |
|
|
CA289923762 rs993164322 |
1020 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1199325832 CA399069748 |
1022 | P>T | No |
ClinGen gnomAD |
|
|
rs1449822853 CA399069762 |
1024 | E>K | No |
ClinGen gnomAD |
|
|
rs1198001035 CA399069770 |
1025 | E>* | No |
ClinGen gnomAD |
|
|
rs949601718 CA289923764 |
1027 | A>S | No |
ClinGen Ensembl |
|
|
CA399069784 rs1378003351 |
1027 | A>V | No |
ClinGen gnomAD |
|
|
CA8497080 rs772334534 |
1028 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399069804 rs773697522 |
1030 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA399069805 rs773697522 |
1030 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs773697522 CA8497081 |
1030 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1163489256 CA399069809 |
1031 | V>E | No |
ClinGen TOPMed |
|
|
CA399069817 rs1391562274 |
1032 | P>H | No |
ClinGen gnomAD |
|
|
CA399069814 rs1332821949 |
1032 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1323457353 CA399069821 |
1033 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs560034204 CA8497083 |
1033 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8497084 rs776738622 |
1034 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1597695008 CA399069832 |
1035 | E>G | No |
ClinGen Ensembl |
|
|
rs759721873 CA8497085 |
1036 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399069840 rs1483324691 |
1036 | E>V | No |
ClinGen TOPMed |
|
|
rs1276597503 CA399069844 |
1037 | D>N | No |
ClinGen gnomAD |
|
|
rs765563887 CA8497087 |
1038 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8497089 rs761611049 |
1040 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8497088 rs368542211 |
1040 | E>K | No |
ClinGen ESP ExAC |
|
|
rs897297516 CA289923832 |
1041 | E>* | No |
ClinGen Ensembl |
|
|
rs1267969028 CA399069879 |
1042 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8497091 rs750350234 |
1045 | G>R | No |
ClinGen ExAC |
|
|
rs1262145939 CA399069915 |
1047 | G>C | No |
ClinGen gnomAD |
|
|
CA399069917 rs1477963081 |
1047 | G>D | No |
ClinGen gnomAD |
|
|
rs1172297104 CA399069923 |
1048 | C>Y | No |
ClinGen gnomAD |
|
|
CA8497093 rs368990611 |
1049 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753442788 CA8497095 |
1050 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs753442788 CA8497094 |
1050 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1388980106 CA399069943 |
1051 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1388980106 CA399069942 |
1051 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8497096 rs778567864 |
1053 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA289923872 rs1017460905 |
1054 | P>A | No |
ClinGen TOPMed |
|
|
rs964898923 CA289923873 |
1054 | P>R | No |
ClinGen TOPMed |
|
|
CA8497100 rs747491942 |
1055 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8497101 rs117198958 |
1055 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776687135 CA8497102 |
1056 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472807792 CA399069973 |
1057 | P>L | No |
ClinGen TOPMed |
|
|
CA289923883 rs372624603 |
1057 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746007256 CA8497103 |
1058 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769778741 CA8497104 |
1060 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8497106 rs763116200 |
1061 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767297320 CA8497107 |
1061 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA399069999 rs1453508713 |
1062 | D>G | No |
ClinGen TOPMed |
|
|
CA399069994 rs1222462480 |
1062 | D>N | No |
ClinGen TOPMed |
|
|
rs1187664126 CA399070013 |
1064 | H>Q | No |
ClinGen gnomAD |
|
|
rs1369651398 CA399070019 |
1065 | N>S | No |
ClinGen gnomAD |
|
|
CA8497109 rs773194998 CA8497108 |
1066 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1420690494 CA399070035 |
1067 | M>I | No |
ClinGen gnomAD |
|
|
rs1157323593 CA399070029 |
1067 | M>L | No |
ClinGen gnomAD |
|
|
CA8497110 rs766494368 |
1067 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs374903367 CA399070038 |
1068 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA289923929 rs1030647229 |
1068 | R>L | No |
ClinGen Ensembl |
|
|
CA289923924 rs374903367 |
1068 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs925259861 CA289923949 |
1069 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs925259861 CA399070043 |
1069 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8497111 rs753836968 |
1071 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8497112 rs759016975 |
1072 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1597695126 CA399070074 |
1073 | I>M | No |
ClinGen Ensembl |
|
|
CA399070072 rs1342278086 |
1073 | I>T | No |
ClinGen gnomAD |
|
|
CA8497113 rs745726138 |
1075 | A>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227080372 CA399070085 |
1075 | A>W | No |
ClinGen TOPMed |
1 associated diseases with Q6IEE7
[MIM: 618231]: Epidermodysplasia verruciformis 2 (EV2)
A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:28646613}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:28646613}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q6IEE7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6IEE7 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| posterior lateral line neuromast hair cell development | The process whose specific outcome is the progression of a posterior lateral line neuromast hair cell over time, from its formation to the mature structure. A neuromast hair cell is a hair cell that acts as a sensory receptor of the neuromast; it is morphologically polarized as a result of the relative position of the single kinocilium and the clusters of stereocilia on its apical surface. Cell development does not include the steps involved in committing a cell to a specific fate. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q24JP5 | TMEM132A | Transmembrane protein 132A | Homo sapiens (Human) | PR |
| Q14C87 | TMEM132D | Transmembrane protein 132D | Homo sapiens (Human) | PR |
| Q922P8 | Tmem132a | Transmembrane protein 132A | Mus musculus (Mouse) | PR |
| Q6IEE6 | Tmem132e | Transmembrane protein 132E | Mus musculus (Mouse) | PR |
| Q80WF4 | Tmem132a | Transmembrane protein 132A | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPGMSGRGG | AALLCLSALL | AHASGRSHPA | SPSPPGPQAS | PVLPVSYRLS | HTRLAFFLRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARPPSPAVAN | SSLQRSEPFV | VFQTKELPVL | NVSLGPFSTS | QVVARELLQP | SSTLDIPERL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TVNWKVRAFI | VRSHVPASQP | VVQVLFYVAG | RDWDDFGVTE | RLPCVRLHAF | RDAREVKSSC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RLSGGLATCL | VRAELPLAWF | GPPAPAAPPT | ARRKSPDGLE | PEATGESQQA | ELYYTLHAPD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASGGCGGSRR | GAGPGVGARA | ESPTQHPLLR | IGSISLFRPP | PRRTLQEHRL | DSNLMIRLPD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RPLKPGEVLS | ILLYLAPNSS | SPSSPSVEHF | TLRVKAKKGV | TLLGTKSRSG | QWHVTSELLT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GAKHSTATVD | VAWAQSTPLP | PREGQGPLEI | LQLDFEMENF | TSQSVKRRIM | WHIDYRGHGA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LPDLERAVTE | LTVIQRDVQA | ILPLAMDTEI | INTAILTGRT | VAIPVKVIAI | EVNGLVLDIS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALVECESDNE | DIIKVSSSCD | YVFVSGKESR | GSMNARVTFR | YDVLNAPLEM | TVWVPKLPLH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IELSDARLSQ | VKGWRVPILP | DRRSVRESED | EDEEEEERRQ | SASRGCTLQY | QHATLQVFTQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FHTTSSEGTD | QVVTMLGPDW | LVEVTDLVSD | FMRVGDPRVA | HMVDSSTLAG | LEPGTTPFKV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VSPLTEAVLG | ETLLTVTEEK | VSITQLQAQV | VASLALSLRP | SPGSSHTILA | TTAAQQTLSF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LKQEALLSLW | LSYSDGTTAP | LSLYSPRDYG | LLVSSLDEHV | ATVTQDRAFP | LVVAEAEGSG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ELLRAELTIA | ESCQKTKRKS | VLATTPVGLR | VHFGRDEEDP | TYDYPGPSQP | GPGGGEDEAR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GAGPPGSALP | APEAPGPGTA | SPVVPPTEDF | LPLPTGFLQV | PRGLTDLEIG | MYALLGVFCL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AILVFLINCI | VFVLRYRHKR | IPPEGQTSMD | HSHHWVFLGN | GQPLRVQGEL | SPPAGNPLET |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VPAFCHGDHH | SSGSSQTSVQ | SQVHGRGDGS | SGGSARDQAE | DPASSPTSKR | KRVKFTTFTT |
| 1030 | 1040 | 1050 | 1060 | 1070 | |
| LPSEELAYDS | VPAGEEDEEE | EEDLGWGCPD | VAGPTRPTAP | PDLHNYMRRI | KEIA |