Q8NBP5
PR
Gene name |
MFSD9 (PSEC0066) |
Protein name |
Major facilitator superfamily domain-containing protein 9 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84804 |
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 Q8NBP5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NBP5-F1 | Predicted | AlphaFoldDB |
491 variants for Q8NBP5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs772241834 CA1812564 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA52341441 rs1027935484 |
3 | L>P | No |
ClinGen Ensembl |
|
|
CA347994852 rs1442892331 |
3 | L>V | No |
ClinGen TOPMed |
|
|
rs748389983 CA1812562 |
4 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347994841 rs1378130292 |
4 | G>R | No |
ClinGen gnomAD |
|
|
CA347994839 rs1378130292 |
4 | G>W | No |
ClinGen gnomAD |
|
|
rs779222299 CA1812561 |
5 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs137924322 CA1812560 |
5 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812559 rs137924322 |
5 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812557 rs201795999 CA347994803 |
6 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780251164 CA1812558 |
6 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1412930485 CA347994817 |
6 | H>Y | No |
ClinGen TOPMed |
|
|
rs750888721 CA347994768 |
8 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162226022 CA347994774 |
8 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1162226022 CA347994772 |
8 | D>V | No |
ClinGen gnomAD |
|
|
CA1812555 rs373176499 |
9 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757843909 CA1812554 |
9 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439318945 CA347994722 |
11 | S>L | No |
ClinGen gnomAD |
|
|
rs1558745427 CA347994711 |
12 | A>S | No |
ClinGen Ensembl |
|
|
rs752187948 CA1812553 |
12 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765003997 CA1812552 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1486209655 CA347994674 |
14 | R>K | No |
ClinGen gnomAD |
|
|
CA347994656 rs1308161324 |
15 | L>R | No |
ClinGen TOPMed |
|
|
CA347994665 rs1194870267 |
15 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347994642 rs1573473063 |
16 | V>G | No |
ClinGen Ensembl |
|
|
rs1320966880 CA347994625 |
17 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1812551 rs776534966 |
19 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1812550 rs776534966 |
19 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1812549 rs766035004 |
20 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362976018 CA347994557 |
21 | E>G | No |
ClinGen gnomAD |
|
|
CA347994499 rs1322058809 |
25 | E>K | No |
ClinGen gnomAD |
|
|
rs141735316 CA1812548 |
26 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 26 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1305488 CA52341365 rs867046037 |
29 | G>E | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1812547 rs374902357 |
30 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902550399 CA52341312 |
31 | E>G | No |
ClinGen Ensembl |
|
|
CA347994355 rs762045089 |
31 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762045089 CA1812545 |
31 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1042829673 CA52341309 |
32 | A>G | No |
ClinGen Ensembl |
|
|
rs774291948 CA1812544 |
32 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1388889758 CA347994298 |
33 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768963762 CA1812543 |
34 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1188447258 CA347994268 |
34 | A>T | No |
ClinGen gnomAD |
|
|
rs1488288616 CA347994228 |
36 | D>V | No |
ClinGen gnomAD |
|
|
CA1812540 rs769985711 |
37 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1812538 rs781706171 |
38 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1812539 rs746386281 |
38 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 39 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 39 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545592534 CA52341248 |
40 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA347994179 rs1573472826 |
40 | V>G | No |
ClinGen Ensembl |
|
|
CA1812536 rs545592534 |
40 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs545592534 CA347994183 |
40 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| TCGA novel | 41 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754676778 CA1812533 |
41 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA52341210 rs371034352 |
43 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766203891 CA1812530 |
43 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812531 rs371034352 |
43 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347994130 rs1407185074 |
44 | R>C | No |
ClinGen gnomAD |
|
|
CA347994126 rs1369069894 |
44 | R>L | No |
ClinGen gnomAD |
|
|
CA347994107 rs1168574155 |
45 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1812529 rs760491291 |
47 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA347994057 rs767631772 |
49 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1812527 rs767631772 |
49 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574447135 CA52341187 |
50 | Y>F | No |
ClinGen Ensembl |
|
|
rs1558745149 CA347993996 |
51 | L>W | No |
ClinGen Ensembl |
|
|
CA347993949 rs1201830755 |
53 | G>A | No |
ClinGen gnomAD |
|
|
CA347993923 rs1168624018 |
54 | F>C | No |
ClinGen TOPMed |
|
|
CA1812524 rs150154751 |
54 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52338120 rs902896726 |
57 | L>M | No |
ClinGen TOPMed |
|
|
rs994991721 CA52338116 |
58 | F>L | No |
ClinGen Ensembl |
|
| VAR_035966 | 59 | G>A | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA1812493 rs201386083 |
60 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1812492 rs745470610 |
61 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347992818 rs1384211711 |
62 | M>I | No |
ClinGen gnomAD |
|
|
CA347992816 rs1317726053 |
63 | V>I | No |
ClinGen gnomAD |
|
|
CA52338102 rs34887704 |
65 | P>A | No |
ClinGen Ensembl |
|
|
rs756943930 CA1812489 |
68 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347992782 rs756943930 |
68 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751355472 CA1812488 |
68 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA347992781 rs756943930 |
68 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347992773 rs1215397474 |
70 | H>N | No |
ClinGen TOPMed |
|
|
CA347992769 rs1388759511 |
70 | H>R | No |
ClinGen gnomAD |
|
|
CA347992763 rs1425021205 |
71 | V>F | No |
ClinGen gnomAD |
|
|
CA1812486 rs758323421 |
72 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs758323421 CA347992755 |
72 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1812485 rs752765629 |
74 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1194616359 CA347992734 |
76 | A>T | No |
ClinGen gnomAD |
|
|
CA1812484 rs765248339 |
77 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759781119 CA1812483 |
78 | P>A | No |
ClinGen ExAC |
|
|
rs537841825 CA52338071 |
78 | P>L | No |
ClinGen gnomAD |
|
|
CA347992717 rs1266167305 |
79 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776763183 CA1812482 |
82 | G>R | No |
ClinGen ExAC |
|
|
CA347992689 rs1471784333 |
83 | I>M | No |
ClinGen TOPMed |
|
|
CA347992690 rs1222254359 |
83 | I>R | No |
ClinGen gnomAD |
|
| VAR_035967 | 84 | V>A | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA347992666 rs1198090374 |
85 | G>A | No |
ClinGen TOPMed |
|
|
rs369953918 CA52337531 |
87 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs754909875 CA1812449 |
88 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs890986975 CA52337526 |
89 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1240469918 CA347992618 |
93 | L>V | No |
ClinGen Ensembl |
|
|
CA1812447 rs376649032 |
95 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479698973 CA347992585 |
98 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1812426 rs34960597 |
102 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812424 rs757521271 |
104 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764503431 CA1812422 |
105 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1812423 rs752016864 |
105 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753178803 CA1812420 |
106 | V>A | No |
ClinGen ExAC |
|
|
rs759001733 CA1812421 |
106 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA347992510 rs1304346799 |
108 | R>G | No |
ClinGen gnomAD |
|
|
CA1812419 rs765816357 |
108 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1812416 rs561138182 |
109 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1812414 rs767202109 |
109 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561138182 CA1812415 |
109 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1812412 rs774157361 |
110 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812413 rs761435946 |
110 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs761435946 CA52336210 |
110 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1490144485 CA347992488 |
112 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1193098793 CA347992489 |
112 | L>W | No |
ClinGen gnomAD |
|
|
rs368027673 CA1812409 |
114 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52336199 rs368027673 |
114 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479632390 CA347992475 |
115 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347992468 rs1230743328 |
116 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 117 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250654649 CA347992456 |
118 | L>V | No |
ClinGen gnomAD |
|
|
CA1812407 rs745998963 |
119 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs781109702 CA1812406 |
121 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1812405 rs368647744 |
123 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1222513849 CA347992427 |
123 | Y>H | No |
ClinGen gnomAD |
|
|
rs778284214 CA1812403 |
125 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1298074634 CA347992410 |
126 | L>F | No |
ClinGen gnomAD |
|
|
CA1812398 rs755412506 COSM3797806 |
127 | G>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs7601509 CA347992392 |
129 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000883671 CA1812397 VAR_035152 rs7601509 |
129 | A>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA347992389 rs1359944998 |
129 | A>V | No |
ClinGen gnomAD |
|
|
CA52336169 rs1018698105 |
130 | T>I | No |
ClinGen TOPMed |
|
|
CA1812395 rs761485677 |
131 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1812394 rs146161217 |
131 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 132 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1812392 rs762865586 |
132 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1196289063 CA347992319 |
135 | F>S | No |
ClinGen gnomAD |
|
|
rs745741385 CA1812389 |
136 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs745741385 CA347992312 |
136 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745741385 CA1812390 |
136 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs994938890 CA52336133 |
138 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1323836538 CA347992270 |
139 | R>G | No |
ClinGen gnomAD |
|
|
CA347992261 rs371045021 |
139 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778196337 CA1812386 |
139 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1812387 rs371045021 |
139 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347992236 rs1306997026 |
140 | V>G | No |
ClinGen gnomAD |
|
|
CA347992251 rs1334340242 |
140 | V>I | No |
ClinGen gnomAD |
|
|
rs777052924 CA1812383 |
141 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755535119 CA1812381 |
142 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs754262733 CA1812380 |
143 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52334854 rs900491066 |
143 | G>D | No |
ClinGen Ensembl |
|
|
rs754262733 CA347992198 |
143 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280274332 CA347991332 |
147 | H>P | No |
ClinGen TOPMed |
|
|
CA52334852 rs989144865 |
147 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs141205417 CA1812346 |
148 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812347 rs141205417 |
148 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200918780 CA1812344 |
149 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772009553 CA1812342 |
149 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs200918780 CA1812343 |
149 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812341 rs762102880 |
150 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199988433 CA1812339 |
151 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1302232745 CA347991156 |
156 | L>I | No |
ClinGen gnomAD |
|
|
CA1812335 rs373319301 |
157 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201822336 CA1812336 |
157 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148239281 CA1812334 |
158 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812333 rs746332713 |
159 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1373346244 CA347991047 |
161 | P>L | No |
ClinGen gnomAD |
|
|
CA1812331 rs138186882 |
165 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812329 rs778493477 |
165 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812330 rs138186882 |
165 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753732232 CA1812328 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753732232 CA1812327 |
166 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs924933665 CA52334809 |
167 | L>I | No |
ClinGen gnomAD |
|
|
rs142339006 CA52334803 |
168 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 169 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479796758 CA347990878 |
169 | I>V | No |
ClinGen gnomAD |
|
|
rs151282750 CA1812323 |
170 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1812322 rs761856682 |
171 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA347990786 rs1405287510 |
173 | N>S | No |
ClinGen gnomAD |
|
|
rs1351590009 CA347990763 |
175 | A>T | No |
ClinGen gnomAD |
|
|
rs1289032667 CA347990741 |
176 | S>C | No |
ClinGen TOPMed |
|
|
rs371794969 CA1812321 |
177 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271142917 CA347990718 |
177 | G>V | No |
ClinGen TOPMed |
|
|
rs149203905 CA1812319 |
178 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812317 rs770077382 |
180 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA1812316 rs746386225 |
181 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1812313 rs747649657 |
183 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812314 rs747649657 |
183 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754702700 CA1812311 |
184 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201886927 CA1812308 |
185 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347990560 rs1262716504 |
186 | V>I | No |
ClinGen gnomAD |
|
|
CA347990540 rs202112715 |
187 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202112715 CA1812306 |
187 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1812305 rs55839709 |
188 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812304 rs55839709 |
188 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764193205 CA1812302 |
189 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812303 rs559303462 |
189 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 192 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52334742 rs1006185604 |
192 | E>V | No |
ClinGen TOPMed |
|
|
CA1812299 rs765431986 |
193 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA347990362 rs1415460530 |
195 | D>G | No |
ClinGen gnomAD |
|
|
CA1812298 rs530472394 |
196 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347990333 rs530472394 |
196 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1573455023 CA347990322 |
197 | F>V | No |
ClinGen Ensembl |
|
|
rs1229970429 CA347990268 |
200 | T>I | No |
ClinGen TOPMed |
|
|
rs771388345 CA1812296 |
201 | A>S | No |
ClinGen ExAC |
|
|
rs935916888 CA52334716 |
201 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239279804 CA347990226 |
204 | C>G | No |
ClinGen gnomAD |
|
|
rs761191978 CA1812295 |
205 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs773768495 CA1812294 |
206 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA347990195 rs1558737308 |
206 | L>S | No |
ClinGen Ensembl |
|
|
rs768218974 CA1812293 |
207 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs748966403 CA1812292 |
209 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA347990147 rs1314099941 |
210 | L>P | No |
ClinGen gnomAD |
|
|
CA1812291 rs112340787 |
211 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139507988 CA1812290 |
211 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335416817 CA347990128 |
212 | A>T | No |
ClinGen gnomAD |
|
|
CA347990117 rs1351347881 |
213 | G>S | No |
ClinGen gnomAD |
|
|
CA1812261 rs199711990 |
215 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812260 rs752819524 |
217 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812259 rs778912177 |
218 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1812258 rs115622745 |
220 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347989470 rs1316112740 |
222 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1403446508 CA347989482 |
222 | E>K | No |
ClinGen gnomAD |
|
|
CA1812257 rs754027192 |
225 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215591727 CA347989444 |
225 | P>S | No |
ClinGen TOPMed |
|
|
CA347989426 rs761163323 |
227 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812255 rs761163323 |
227 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750750278 CA1812254 |
228 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA347989406 rs1573449834 |
228 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 229 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558734895 CA347989402 |
229 | E>Q | No |
ClinGen Ensembl |
|
|
rs1264209515 CA347989382 |
230 | K>N | No |
ClinGen TOPMed |
|
|
rs377592228 CA52327673 |
230 | K>Q | No |
ClinGen gnomAD |
|
|
rs775164140 CA347989373 |
231 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347989377 rs762388706 |
231 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812252 rs762388706 |
231 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812251 rs775164140 |
231 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192848586 CA347989336 |
235 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1192848586 CA347989337 |
235 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs372925047 CA1812248 |
235 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA52327660 rs867420324 |
238 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347989286 rs1198674593 |
239 | V>M | No |
ClinGen gnomAD |
|
|
CA52327652 rs894147904 |
241 | L>W | No |
ClinGen Ensembl |
|
|
CA1812244 rs772965774 |
242 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1222115825 CA347989250 |
242 | G>V | No |
ClinGen gnomAD |
|
|
rs1330868253 CA347989217 |
245 | H>Y | No |
ClinGen gnomAD |
|
|
CA1812243 rs772017144 |
246 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52327647 rs371985292 |
248 | V>L | No |
ClinGen Ensembl |
|
|
CA347989172 rs1385233835 |
249 | Q>R | No |
ClinGen TOPMed |
|
|
rs748035641 CA1812242 |
250 | E>A | No |
ClinGen ExAC |
|
|
CA347989155 rs1389038597 |
252 | A>P | No |
ClinGen gnomAD |
|
|
rs778971486 CA1812241 |
253 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs755031108 CA1812240 |
253 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347989142 rs1466180058 |
254 | S>N | No |
ClinGen gnomAD |
|
|
rs551273760 CA1812239 |
255 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142912929 CA1812237 |
255 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812238 rs142912929 |
255 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347989122 rs1233799989 |
257 | A>V | No |
ClinGen TOPMed |
|
|
rs1177899081 CA347989115 TCGA novel |
258 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA347989111 rs1417269148 |
259 | A>V | No |
ClinGen gnomAD |
|
|
rs764494277 CA1812232 |
262 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs759151779 CA1812231 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1812228 rs773018974 |
265 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA347989071 rs766100883 |
265 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812229 rs766100883 |
265 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52327620 rs150229633 |
267 | W>* | No |
ClinGen ESP |
|
|
rs1256964240 CA347989049 |
267 | W>S | No |
ClinGen gnomAD |
|
|
CA1812226 rs771786104 |
268 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs913946407 CA52327614 |
269 | E>K | No |
ClinGen TOPMed |
|
|
rs1309144814 CA347988993 |
271 | V>A | No |
ClinGen gnomAD |
|
|
rs768477577 CA1812223 |
273 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347988958 rs1558734634 |
274 | L>S | No |
ClinGen Ensembl |
|
|
CA1812221 rs779977008 |
275 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144200432 CA1812222 |
275 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757752408 CA52327596 CA1812217 |
277 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812218 rs781699117 |
277 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573339858 CA1812219 |
277 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347988881 rs986560530 |
280 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201028134 CA1812215 |
281 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1030240654 CA52327584 |
284 | E>D | No |
ClinGen TOPMed |
|
|
rs142050183 CA1812213 |
284 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347988836 rs142050183 |
284 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765763211 CA1812212 |
285 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs760322503 CA1812211 |
286 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1202602883 CA347988806 |
286 | W>R | No |
ClinGen gnomAD |
|
|
CA1812210 rs750022340 |
287 | D>N | No |
ClinGen ExAC |
|
|
CA1812207 rs774106067 |
288 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812208 rs33993717 VAR_035153 |
288 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1812209 rs767146863 |
288 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52327578 rs904734526 |
290 | L>P | No |
ClinGen TOPMed |
|
|
rs1313042537 CA347988741 |
291 | V>L | No |
ClinGen gnomAD |
|
|
rs762751390 COSM1004719 CA1812205 |
292 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA347988727 rs1336372306 |
292 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 292 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762751390 CA347988732 |
292 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347988702 rs1380367974 |
294 | L>P | No |
ClinGen gnomAD |
|
|
CA1812204 rs200003492 |
297 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769698291 CA1812203 |
298 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1479959945 COSM3960906 CA347988624 |
300 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs781305181 CA52327570 |
300 | M>R | No |
ClinGen Ensembl |
|
|
CA1812201 rs781627379 |
301 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA347988611 rs781627379 |
301 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1812200 rs771246309 |
302 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347988589 rs1558734494 |
303 | Y>C | No |
ClinGen Ensembl |
|
|
rs372931459 CA1812198 |
304 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453330578 CA347988573 |
304 | S>I | No |
ClinGen TOPMed |
|
|
CA347988576 rs1453330578 |
304 | S>N | No |
ClinGen TOPMed |
|
|
CA1812196 rs377585353 |
306 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1812195 rs753076075 |
309 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA347988492 rs1290185185 |
311 | E>G | No |
ClinGen gnomAD |
|
|
rs1396513200 CA347988484 |
312 | E>K | No |
ClinGen TOPMed |
|
|
COSM1398550 rs757190136 CA1812194 |
313 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs139620122 CA1812193 |
313 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA52327550 rs931727775 |
314 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777608154 CA52327548 |
315 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 315 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278632791 CA347988426 |
316 | V>A | No |
ClinGen gnomAD |
|
|
rs554358456 CA52327544 |
316 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs142823158 CA1812190 |
317 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812191 COSM75407 rs767201966 |
317 | R>W | ovary large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1392268610 CA347988398 |
319 | K>* | No |
ClinGen gnomAD |
|
|
CA347988400 rs1392268610 |
319 | K>E | No |
ClinGen gnomAD |
|
|
rs1350345875 CA347988377 |
322 | G>A | No |
ClinGen TOPMed |
|
|
rs375353978 CA1812188 |
322 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235427160 CA347988364 |
324 | L>F | No |
ClinGen TOPMed |
|
|
rs762953843 CA1812187 |
325 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306172216 CA347988351 |
326 | S>N | No |
ClinGen TOPMed |
|
|
rs775345876 CA347988326 |
329 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812186 rs775345876 |
329 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347988319 rs1234036646 |
330 | M>T | No |
ClinGen TOPMed |
|
|
CA1812185 rs769848948 |
330 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA347988312 rs1467586883 |
331 | L>P | No |
ClinGen TOPMed |
|
|
rs1452621576 CA347988035 |
332 | G>E | No |
ClinGen gnomAD |
|
|
CA52327531 rs759729239 CA1812184 |
332 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA52327527 rs375902859 |
333 | A>T | No |
ClinGen Ensembl |
|
|
CA1812181 rs140585828 |
334 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1343408343 CA347988003 |
335 | A>D | No |
ClinGen gnomAD |
|
|
rs1220290316 CA347988005 |
335 | A>S | No |
ClinGen gnomAD |
|
|
rs1343408343 CA347988000 |
335 | A>V | No |
ClinGen gnomAD |
|
|
rs772265230 CA1812179 |
336 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148301225 CA1812180 |
336 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1411513094 CA347987985 |
337 | L>F | No |
ClinGen TOPMed |
|
|
CA347987975 rs748534014 |
338 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812178 rs748534014 |
338 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445367353 CA347987950 |
340 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347987947 rs1445367353 |
340 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1812176 rs538334164 |
342 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142876545 CA1812173 |
344 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754504524 CA1812174 |
344 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52327501 rs79177698 |
346 | Y>D | No |
ClinGen Ensembl |
|
|
CA347987865 rs1478654654 |
348 | H>Y | No |
ClinGen gnomAD |
|
|
rs1248921063 CA347987835 |
350 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1812170 rs370598161 |
351 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812169 rs752502355 |
351 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812168 rs765310955 |
352 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1812167 rs759493345 |
353 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776881213 CA1812166 |
354 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA347987776 rs1334793353 |
356 | H>Y | No |
ClinGen TOPMed |
|
|
rs1376983200 CA347987709 |
360 | L>F | No |
ClinGen gnomAD |
|
|
CA1812162 rs566616874 |
361 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377082803 CA1812160 |
362 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347987632 rs780687642 |
364 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA347987605 rs1439551139 |
366 | L>M | No |
ClinGen gnomAD |
|
|
CA52327472 rs754417483 |
367 | L>P | No |
ClinGen Ensembl |
|
|
CA1812154 rs777328058 |
368 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs746522392 CA1812155 |
368 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347987533 rs1283874053 |
370 | L>F | No |
ClinGen gnomAD |
|
|
CA347987527 rs1474165322 |
371 | A>S | No |
ClinGen TOPMed |
|
|
CA1812152 rs752452824 |
372 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758043502 CA1812153 |
372 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765084111 CA1812151 |
374 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM356908 CA52327462 rs1000198734 |
374 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs34096572 RCV000955954 VAR_061383 CA1812150 |
376 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA347987416 rs1284403246 |
376 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347987390 rs1361262865 |
378 | V>F | No |
ClinGen gnomAD |
|
|
rs760735823 CA1812147 |
380 | S>P | No |
ClinGen ExAC |
|
|
rs1016040243 CA52327450 |
381 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs773313013 CA1812145 |
381 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA347987324 rs767682152 |
382 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1812144 rs767682152 |
382 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA347987309 rs1558733919 |
383 | L>R | No |
ClinGen Ensembl |
|
|
rs371519262 CA1812143 |
383 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812142 rs774733342 |
385 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812141 rs768946691 |
386 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA347987284 rs1473862913 |
386 | F>V | No |
ClinGen gnomAD |
|
|
CA347987249 rs749812297 |
388 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812139 rs749812297 |
388 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204045538 CA347987205 |
390 | I>V | No |
ClinGen TOPMed |
|
|
rs770301367 CA1812137 |
391 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1812136 rs746546160 |
392 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA347987171 rs1573448463 |
393 | T>A | No |
ClinGen Ensembl |
|
|
rs532917468 CA52327438 |
393 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1812135 rs532917468 |
393 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347987151 rs1276733697 |
394 | C>W | No |
ClinGen gnomAD |
|
|
rs766417266 CA1812133 |
395 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140556488 CA1812132 |
396 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347987125 rs1398854162 |
397 | D>N | No |
ClinGen gnomAD |
|
|
CA347987108 rs1189977142 |
398 | L>F | No |
ClinGen TOPMed |
|
|
CA347987102 rs1349370007 |
398 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA347987091 rs1165506031 |
399 | Q>P | No |
ClinGen gnomAD |
|
|
CA1812131 rs150620656 |
400 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347987074 rs1421707346 |
401 | T>P | No |
ClinGen gnomAD |
|
|
CA347987054 rs1192723213 |
402 | V>A | No |
ClinGen gnomAD |
|
|
rs1296544075 CA347987045 |
403 | G>D | No |
ClinGen gnomAD |
|
|
CA1812130 rs753679276 COSM1398547 |
404 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756058191 CA347987018 |
405 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs756058191 CA1812128 |
405 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1812124 CA1812126 rs550305075 |
408 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1812121 rs775806883 |
409 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763344870 CA1812123 |
409 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763344870 CA1812122 |
409 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347986927 rs1346423936 |
411 | L>F | No |
ClinGen Ensembl |
|
|
CA347986907 rs1315279631 |
412 | I>T | No |
ClinGen TOPMed |
|
|
CA1812120 rs376989468 |
414 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812119 rs376989468 |
414 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772601441 CA1812118 |
416 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1573448246 CA347986808 |
417 | S>C | No |
ClinGen Ensembl |
|
|
CA1812116 rs747646327 |
419 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778772763 CA1812115 |
420 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1812114 rs768394627 |
422 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA347986723 rs1170224510 |
422 | G>V | No |
ClinGen gnomAD |
|
|
CA1812113 rs749145501 |
423 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812112 rs779850090 |
423 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151328312 CA1812111 |
426 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267932956 CA347986633 |
426 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142138428 CA1812110 |
429 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812109 rs373830901 |
430 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373830901 CA347986568 |
430 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766781665 CA52327409 |
431 | G>E | No |
ClinGen Ensembl |
|
|
rs751637487 CA1812107 |
431 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1053954882 CA52327405 |
432 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764345922 CA1812106 |
432 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs917755827 CA52327402 |
434 | Q>* | No |
ClinGen gnomAD |
|
|
rs917755827 CA347986509 |
434 | Q>E | No |
ClinGen gnomAD |
|
|
rs917755827 CA347986511 |
434 | Q>K | No |
ClinGen gnomAD |
|
|
CA1812105 rs763109279 |
434 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA347986476 rs1264367963 |
435 | E>* | No |
ClinGen gnomAD |
|
|
CA1812103 rs765567745 |
436 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374756962 CA347986430 |
437 | S>I | No |
ClinGen gnomAD |
|
|
rs1374756962 CA347986427 |
437 | S>N | No |
ClinGen gnomAD |
|
|
CA1812101 rs199682759 |
438 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA52327391 rs267598820 |
438 | P>S | No |
ClinGen Ensembl |
|
|
rs771337039 CA1812100 |
439 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1812097 rs528008728 |
440 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1812098 rs377633987 |
440 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812094 rs34977505 RCV000955953 |
441 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1812093 rs373935761 |
441 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347986351 rs373935761 |
441 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812096 rs34977505 |
441 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34977505 CA1812095 |
441 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1812091 rs757161157 |
442 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747111089 CA1812090 |
442 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747111089 CA347986340 |
442 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812092 rs757161157 |
442 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs769987847 | 443 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769987847 | 443 | S>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369190731 CA347986308 |
444 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812081 rs766960045 |
445 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812078 rs763632217 |
446 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs774029325 CA1812079 |
446 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA347986285 rs774029325 |
446 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1812077 rs762711225 |
447 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1812075 rs375132372 |
454 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347986166 rs1402645969 |
455 | I>V | No |
ClinGen gnomAD |
|
|
rs1314417755 CA347986143 |
456 | M>R | No |
ClinGen gnomAD |
|
|
rs1051938564 CA52327350 |
457 | S>F | No |
ClinGen Ensembl |
|
|
rs776237462 CA1812073 |
458 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM200064 rs369281175 CA1812072 |
461 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1812071 rs746878427 |
461 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs142662540 CA1812070 |
462 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1812069 rs758530890 |
462 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA347986083 rs1573447779 |
463 | S>F | No |
ClinGen Ensembl |
|
|
CA347986081 rs1471027917 |
464 | S>G | No |
ClinGen gnomAD |
|
|
CA1812066 rs755132242 |
465 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA347986050 rs1301616136 |
468 | N>S | No |
ClinGen TOPMed |
|
|
rs754253682 CA1812065 |
469 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA347986047 rs1217511290 |
469 | S>R | No |
ClinGen gnomAD |
|
|
CA1812064 rs766811371 |
471 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201390440 CA1812063 |
473 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q8NBP5
No regional properties for Q8NBP5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8NBP5 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELGGHWDMN | SAPRLVSETA | ERKQEQKTGT | EAEAADSGAV | GARRFLLCLY | LVGFLDLFGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SMVVPLLSLH | VKSLGASPTV | AGIVGSSYGI | LQLFSSTLVG | CWSDVVGRRS | SLLACILLSA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGYLLLGAAT | NVFLFVLARV | PAGIFKHTLS | ISRALLSDVV | PEKERPLVIG | HFNTASGVGF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILGPVVGGYL | TELEDGFYLT | AFICFLVFIL | NAGLVWFFPW | REAKPGSTEK | GLPLRKTHVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LGRSHDTVQE | AATSRRARAS | KKTAQPWVEV | VLALRNMKNL | LFSEMWDIFL | VRLLMAMAVM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LYYSNFVLAL | EERFGVRPKV | TGYLISYSSM | LGAVAGLALG | PILRLYKHNS | QALLLHSSIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TCTLLLLYSL | APTMGAVVLS | STLLSFSTAI | GRTCITDLQL | TVGGAQASGT | LIGVGQSVTA |
| 430 | 440 | 450 | 460 | 470 | |
| VGRIIAPLLS | GVAQEVSPCG | PPSLGAVLAL | VAIFIMSLNK | RHSSGDGNSK | LKSE |