Q8NE01
PR
Gene name |
CNNM3 (ACDP3) |
Protein name |
Metal transporter CNNM3 |
Names |
Ancient conserved domain-containing protein 3, Cyclin-M3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26505 |
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
8 structures for Q8NE01
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5K22 | X-ray | 300 A | B | 309-452 | PDB |
| 5K23 | X-ray | 296 A | C | 309-452 | PDB |
| 5K25 | X-ray | 305 A | C | 309-452 | PDB |
| 5TSR | X-ray | 319 A | B/D | 309-452 | PDB |
| 6DFD | X-ray | 190 A | A/B | 453-707 | PDB |
| 6MN6 | X-ray | 336 A | A/B | 299-658 | PDB |
| 6WUR | X-ray | 288 A | B | 309-452 | PDB |
| AF-Q8NE01-F1 | Predicted | AlphaFoldDB |
613 variants for Q8NE01
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA347712512 rs1238100388 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1217162897 CA347712520 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA1783675 rs776321595 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220615457 CA347712547 |
3 | A>V | No |
ClinGen TOPMed |
|
|
CA52466255 rs1004827742 |
4 | A>T | No |
ClinGen TOPMed |
|
|
rs769635218 CA1783678 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783679 rs775001414 |
5 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347712579 rs775001414 |
5 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339205386 CA347712570 |
5 | V>I | No |
ClinGen TOPMed |
|
|
CA1783680 rs762518584 |
6 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347712593 rs762518584 |
6 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536174643 CA1783681 |
6 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350852040 CA347712607 |
7 | A>S | No |
ClinGen TOPMed |
|
|
rs1024761477 CA52466294 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1472762055 CA347712650 |
9 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1783683 rs373318478 |
10 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755454198 CA347712661 |
10 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783686 rs755454198 |
10 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373318478 CA1783684 |
10 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178632215 CA347712671 |
11 | L>V | No |
ClinGen gnomAD |
|
|
CA1783688 rs752813796 |
12 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347712704 rs1421912709 |
13 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1421912709 CA347712706 |
13 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1559004311 CA347712746 |
15 | F>S | No |
ClinGen Ensembl |
|
|
CA1783690 rs778110675 |
19 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA52466351 rs980723339 |
20 | L>R | No |
ClinGen Ensembl |
|
|
rs1309963015 CA347712924 |
24 | A>S | No |
ClinGen TOPMed |
|
|
CA347712917 rs1309963015 |
24 | A>T | No |
ClinGen TOPMed |
|
|
CA1783692 rs757447665 |
25 | G>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 25 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52466373 rs757447665 |
25 | G>W | No |
ClinGen ExAC TOPMed |
|
|
rs1399903727 CA347712981 |
26 | E>D | No |
ClinGen TOPMed |
|
|
rs780987233 CA1783693 |
26 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378760263 CA347713064 |
29 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347713058 rs1463555905 |
29 | P>S | No |
ClinGen TOPMed |
|
|
CA347713076 rs1574095309 |
30 | G>S | No |
ClinGen Ensembl |
|
|
rs1321915967 CA347713106 |
31 | P>S | No |
ClinGen gnomAD |
|
|
rs1249104418 CA347713129 |
32 | R>* | No |
ClinGen gnomAD |
|
|
CA347713134 rs1348867850 |
32 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1348867850 CA347713133 |
32 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347713170 rs1238453499 |
34 | L>M | No |
ClinGen TOPMed |
|
|
rs1200163590 CA347713197 |
35 | G>D | No |
ClinGen TOPMed |
|
|
rs1456986978 CA347713305 |
39 | E>K | No |
ClinGen gnomAD |
|
|
rs1233152218 CA347713341 |
40 | E>K | No |
ClinGen TOPMed |
|
|
CA1783697 rs748771423 |
41 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574095375 CA347713522 |
45 | G>A | No |
ClinGen Ensembl |
|
|
CA347713540 rs1182096626 |
47 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347713542 rs1182096626 |
47 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 47 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347713574 rs1424596436 |
49 | V>G | No |
ClinGen gnomAD |
|
|
CA347713562 rs1574095401 |
49 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1783701 rs771635590 |
52 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373902792 CA1783700 |
52 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347713677 rs1466477968 |
54 | A>V | No |
ClinGen TOPMed |
|
|
rs1396869518 CA347713700 |
55 | R>P | No |
ClinGen TOPMed |
|
|
rs1402413852 CA347713712 |
56 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347713772 rs1283359515 |
58 | P>R | No |
ClinGen gnomAD |
|
|
rs1379697946 CA347713800 |
59 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1379697946 CA347713811 |
59 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1783703 rs759882604 |
59 | D>H | No |
ClinGen ExAC TOPMed |
|
|
rs1293005758 CA347713827 |
60 | A>G | No |
ClinGen gnomAD |
|
|
rs765754443 CA1783704 |
60 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1440400274 CA347713878 |
62 | F>S | No |
ClinGen TOPMed |
|
|
CA347713893 rs753298326 |
63 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs753298326 CA1783705 |
63 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs988237499 CA347713897 |
64 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763587143 CA1783706 |
65 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1783707 rs764221378 |
66 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483785786 CA347713980 |
68 | G>C | No |
ClinGen gnomAD |
|
|
rs1183755230 CA347713998 |
69 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1183755230 CA347713996 |
69 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA52466493 rs921257981 |
71 | F>I | No |
ClinGen TOPMed |
|
|
rs757437844 CA1783709 |
72 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781339390 CA1783710 |
72 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425933351 CA347714053 |
73 | N>D | No |
ClinGen gnomAD |
|
|
CA347714072 rs1377388931 |
73 | N>S | No |
ClinGen TOPMed |
|
|
rs1559004585 CA347714094 |
74 | S>G | No |
ClinGen Ensembl |
|
|
rs1419021763 CA347714101 |
74 | S>N | No |
ClinGen TOPMed |
|
|
rs1419021763 CA347714104 |
74 | S>T | No |
ClinGen TOPMed |
|
|
rs1333508626 CA347714129 |
75 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1333508626 CA347714132 |
75 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1333508626 CA347714127 |
75 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1051163871 CA52466552 |
76 | W>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 77 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449974249 CA347714184 |
77 | S>F | No |
ClinGen gnomAD |
|
|
rs1574095584 CA347714199 |
78 | W>S | No |
ClinGen Ensembl |
|
|
rs1187852459 CA347714230 |
79 | V>E | No |
ClinGen TOPMed |
|
|
rs887168165 CA52466565 |
80 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347715978 rs1334305167 |
81 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA52466603 rs1036564794 CA52466591 |
82 | E>D | No |
ClinGen TOPMed |
|
|
rs779932700 CA1783714 |
84 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1278554139 CA347716076 |
84 | A>V | No |
ClinGen gnomAD |
|
|
CA1783715 rs376486181 |
85 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52466610 rs1003137884 |
86 | C>R | No |
ClinGen TOPMed |
|
|
CA347716143 rs1212720024 |
87 | R>L | No |
ClinGen gnomAD |
|
|
CA347716148 rs1261533725 |
88 | E>K | No |
ClinGen gnomAD |
|
|
rs1261533725 CA347716149 |
88 | E>Q | No |
ClinGen gnomAD |
|
|
CA52466625 rs768599209 |
90 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783716 rs768599209 |
90 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347716262 rs1420832986 |
92 | S>F | No |
ClinGen TOPMed |
|
|
rs1477769471 CA347716306 |
93 | P>L | No |
ClinGen TOPMed |
|
|
CA347716458 rs1265426274 |
98 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA347716528 rs1574095732 |
101 | L>M | No |
ClinGen Ensembl |
|
|
CA52466655 rs1022885379 |
102 | R>G | No |
ClinGen TOPMed |
|
|
rs968365547 CA52466660 |
103 | L>F | No |
ClinGen TOPMed |
|
|
rs1242219614 CA347716635 |
105 | L>Q | No |
ClinGen Ensembl |
|
|
CA52466666 rs976057973 |
108 | E>D | No |
ClinGen TOPMed |
|
|
rs1232264931 CA347716711 |
110 | V>G | No |
ClinGen gnomAD |
|
|
CA347716708 rs1256208745 |
110 | V>L | No |
ClinGen TOPMed |
|
|
rs1279676313 CA347716736 |
112 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA347716750 rs1434229665 |
112 | P>L | No |
ClinGen TOPMed |
|
|
CA347716739 rs1434229665 |
112 | P>Q | No |
ClinGen TOPMed |
|
|
rs1279676313 CA347716738 |
112 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347716763 rs933999320 |
113 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA52466676 rs933999320 |
113 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347716753 rs1574095772 |
113 | H>Y | No |
ClinGen Ensembl |
|
|
CA347716782 rs1207164793 |
115 | A>T | No |
ClinGen gnomAD |
|
|
CA347716823 rs1421057726 |
118 | A>E | No |
ClinGen TOPMed |
|
|
rs1377408121 CA347716854 |
120 | R>P | No |
ClinGen TOPMed |
|
|
CA347716916 rs1236538703 |
123 | P>Q | No |
ClinGen TOPMed |
|
|
CA347716924 rs1198274337 |
124 | G>S | No |
ClinGen TOPMed |
|
|
rs1438411012 CA347716963 |
125 | G>C | No |
ClinGen TOPMed |
|
|
CA347716990 rs1286700780 |
126 | G>E | No |
ClinGen TOPMed |
|
|
rs1036231967 CA52466701 |
126 | G>W | No |
ClinGen TOPMed |
|
|
rs1374429671 CA347717023 |
128 | A>T | No |
ClinGen TOPMed |
|
|
rs561303055 CA52466705 |
128 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1355764798 CA347717058 |
129 | E>D | No |
ClinGen TOPMed |
|
|
rs1045403590 CA52466709 |
131 | A>V | No |
ClinGen TOPMed |
|
|
rs1402166766 CA347717161 |
133 | P>L | No |
ClinGen TOPMed |
|
|
CA347717158 rs1402166766 |
133 | P>Q | No |
ClinGen TOPMed |
|
|
CA347717139 rs1248165889 |
133 | P>S | No |
ClinGen gnomAD |
|
|
rs1455817879 CA347717181 |
134 | P>R | No |
ClinGen TOPMed |
|
|
rs1390220562 CA347717213 |
135 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs905088464 CA52466717 |
135 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347717281 rs1170974202 |
139 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347717324 rs1409682427 |
142 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1409682427 CA347717321 |
142 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347717417 rs1375543379 |
146 | A>V | No |
ClinGen TOPMed |
|
|
CA347717447 rs1034611560 |
148 | A>E | No |
ClinGen TOPMed |
|
|
rs1034611560 CA52466740 |
148 | A>V | No |
ClinGen TOPMed |
|
|
rs1472482678 CA347717556 |
153 | G>D | No |
ClinGen TOPMed |
|
|
rs1258338132 CA347717584 |
155 | Q>R | No |
ClinGen TOPMed |
|
|
rs1365963189 CA347717641 |
158 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1783717 rs76541114 |
158 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227397205 CA347717678 |
159 | L>R | No |
ClinGen TOPMed |
|
|
CA347717695 rs1355467485 |
160 | A>E | No |
ClinGen TOPMed |
|
|
CA347717737 rs1425819731 |
162 | A>V | No |
ClinGen gnomAD |
|
|
rs1210273423 CA347717750 |
163 | P>L | No |
ClinGen gnomAD |
|
|
rs1338666997 CA347717740 |
163 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347717755 rs1416139217 |
164 | A>S | No |
ClinGen gnomAD |
|
|
rs1288625960 CA347717876 |
171 | E>* | No |
ClinGen TOPMed |
|
|
rs1431885084 CA347717882 |
171 | E>G | No |
ClinGen TOPMed |
|
|
CA347718054 rs1167244787 |
182 | R>Q | No |
ClinGen TOPMed |
|
|
rs1191059096 CA347718065 |
183 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA52466763 rs986837683 |
186 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA52466768 rs908535762 |
187 | A>G | No |
ClinGen TOPMed |
|
|
CA52466776 rs940116018 |
188 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA52466782 rs974542729 |
188 | R>Q | No |
ClinGen TOPMed |
|
|
CA52466799 rs865847530 |
189 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1400219747 CA347718183 |
189 | R>H | No |
ClinGen gnomAD |
|
|
CA347718189 rs1400219747 |
189 | R>L | No |
ClinGen gnomAD |
|
|
rs1325406358 CA347718212 |
190 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1316775751 CA347718220 |
191 | A>T | No |
ClinGen TOPMed |
|
|
CA347718248 rs1364450273 |
192 | G>A | No |
ClinGen TOPMed |
|
|
rs930483380 CA52466812 |
192 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1437458093 CA347718283 |
194 | A>D | No |
ClinGen gnomAD |
|
|
rs1292203503 CA347718280 |
194 | A>S | No |
ClinGen TOPMed |
|
|
rs1440411310 CA347718298 |
195 | L>F | No |
ClinGen TOPMed |
|
|
rs1328203369 CA347718330 |
197 | A>V | No |
ClinGen TOPMed |
|
|
CA52466821 rs1044869129 |
199 | L>R | No |
ClinGen TOPMed |
|
|
rs1285762100 CA347718372 |
200 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1343027109 CA347718406 |
202 | A>V | No |
ClinGen gnomAD |
|
|
CA347718435 rs1468624137 |
204 | L>V | No |
ClinGen TOPMed |
|
|
CA347718473 rs1574096301 |
206 | Q>R | No |
ClinGen Ensembl |
|
|
rs1435158725 CA347718485 |
207 | A>T | No |
ClinGen gnomAD |
|
|
CA52466869 rs4907250 |
210 | A>V | No |
ClinGen Ensembl |
|
|
CA52466879 rs190607200 |
211 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA52466881 rs190607200 |
211 | V>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1232311263 CA347718592 |
214 | Y>S | No |
ClinGen gnomAD |
|
|
CA347718683 rs1284309389 |
219 | Q>R | No |
ClinGen gnomAD |
|
|
CA347718699 rs1228771590 |
220 | R>C | No |
ClinGen TOPMed |
|
|
CA1783719 rs771750345 |
221 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347718715 rs771750345 |
221 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783720 rs560855336 |
223 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1574096378 CA347718749 |
224 | A>P | No |
ClinGen Ensembl |
|
|
CA347718801 rs1247412393 |
227 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347718825 rs1176771222 |
228 | S>N | No |
ClinGen gnomAD |
|
|
rs1305818270 CA347718866 |
230 | G>E | No |
ClinGen TOPMed |
|
|
CA347718884 rs1420093859 |
231 | L>P | No |
ClinGen gnomAD |
|
|
CA347718896 rs1160029583 |
232 | V>L | No |
ClinGen gnomAD |
|
|
CA347718924 rs759914512 |
233 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783721 rs759914512 |
233 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323620908 CA347718943 |
235 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260403034 CA347718980 |
238 | V>M | No |
ClinGen gnomAD |
|
|
CA347719012 rs1454518528 |
240 | P>L | No |
ClinGen TOPMed |
|
|
rs1043885396 CA52466897 |
240 | P>S | No |
ClinGen TOPMed |
|
|
CA347719014 rs1332379238 |
241 | A>T | No |
ClinGen gnomAD |
|
|
rs1188797201 CA347719021 |
241 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1307719642 CA347719045 |
243 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347719071 rs770244604 |
245 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783722 rs770244604 |
245 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311694187 CA347719085 |
246 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347719124 rs1209525420 |
249 | L>V | No |
ClinGen gnomAD |
|
|
CA347719138 rs1453403737 |
250 | A>E | No |
ClinGen gnomAD |
|
|
rs1290672685 CA347719135 |
250 | A>S | No |
ClinGen gnomAD |
|
|
rs1453403737 CA347719142 |
250 | A>V | No |
ClinGen gnomAD |
|
|
rs1348979992 CA347719150 |
251 | L>P | No |
ClinGen TOPMed |
|
|
CA1783725 rs764705972 |
252 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1180242273 CA347719162 |
253 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347719164 rs1442572287 |
254 | R>G | No |
ClinGen Ensembl |
|
|
CA347719176 rs1559005440 |
256 | L>F | No |
ClinGen Ensembl |
|
|
CA347719177 rs1559005449 |
256 | L>R | No |
ClinGen Ensembl |
|
|
CA347719180 rs1163550238 |
257 | G>R | No |
ClinGen gnomAD |
|
|
rs1413054953 CA347719190 |
258 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA52466953 rs997431775 |
260 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1028492919 CA52466958 |
260 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1312126477 CA347719221 |
264 | L>M | No |
ClinGen TOPMed |
|
|
rs1008470648 CA52466968 |
265 | L>H | No |
ClinGen TOPMed |
|
|
CA347719232 rs1459002237 |
266 | T>A | No |
ClinGen gnomAD |
|
|
CA347719236 rs1331272597 |
266 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA52466987 rs1015625758 |
267 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1358496735 CA347719258 |
270 | A>E | No |
ClinGen gnomAD |
|
|
rs1285013740 CA347719254 |
270 | A>P | No |
ClinGen gnomAD |
|
|
rs1216907262 CA347719261 |
271 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347719266 rs1458140626 |
272 | P>S | No |
ClinGen gnomAD |
|
|
rs1256213841 CA347719275 |
273 | V>G | No |
ClinGen TOPMed |
|
|
rs920011811 CA52467000 |
276 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA52467030 rs970127104 |
277 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347719303 rs1574096720 |
278 | E>G | No |
ClinGen Ensembl |
|
|
CA52467045 rs926452477 |
279 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1423784214 CA347719315 |
280 | A>V | No |
ClinGen gnomAD |
|
|
rs1056294896 CA52467054 |
282 | R>P | No |
ClinGen TOPMed |
|
|
rs939302507 CA52467049 |
282 | R>W | No |
ClinGen TOPMed |
|
|
rs767754950 CA1783728 |
283 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466594037 CA347719326 |
283 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756385956 CA1783730 |
284 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008481900 CA52467089 |
288 | E>G | No |
ClinGen Ensembl |
|
|
rs753647148 CA1783732 |
288 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1456122024 CA347719360 |
289 | R>Q | No |
ClinGen TOPMed |
|
|
rs1159882958 CA347719359 |
289 | R>W | No |
ClinGen TOPMed |
|
|
CA347719380 rs1318779559 |
292 | E>D | No |
ClinGen gnomAD |
|
|
rs945050546 CA52467100 |
293 | L>R | No |
ClinGen TOPMed |
|
|
rs778887659 CA1783734 |
294 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754842613 CA1783733 |
294 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330833187 CA347719392 |
295 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA52467119 rs891300122 |
296 | G>S | No |
ClinGen gnomAD |
|
|
rs1258062979 CA347719403 |
297 | G>C | No |
ClinGen gnomAD |
|
|
CA1783736 rs200517700 |
298 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347719422 rs1263189335 |
300 | P>S | No |
ClinGen gnomAD |
|
|
rs891280907 CA52467156 |
302 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs770720977 CA1783739 |
302 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1783740 rs775935042 |
303 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs749741199 CA1783741 |
304 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA52467187 rs12995235 |
305 | S>I | No |
ClinGen gnomAD |
|
|
rs12995235 CA347719456 |
305 | S>T | No |
ClinGen gnomAD |
|
|
CA347719461 rs1384020806 |
306 | K>Q | No |
ClinGen gnomAD |
|
|
CA347719464 rs1299059972 |
306 | K>R | No |
ClinGen gnomAD |
|
|
CA1783745 rs761919472 |
307 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276155391 CA347719471 |
307 | G>V | No |
ClinGen TOPMed |
|
|
CA1783746 rs767453014 |
308 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1783747 rs773360282 |
312 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1326793109 CA347719506 |
313 | T>I | No |
ClinGen TOPMed |
|
|
CA347719519 rs374358338 |
315 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1783750 rs138281711 |
316 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
|
CA52467224 rs1031961443 |
316 | D>G | No |
ClinGen Ensembl |
|
|
CA347719529 rs1393340451 |
317 | V>L | No |
ClinGen TOPMed |
|
|
rs202012890 CA1783751 |
318 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1397202299 CA347719542 |
319 | T>M | No |
ClinGen gnomAD |
|
|
CA1783752 rs765129663 |
319 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758383435 CA1783754 |
320 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1783756 rs746536994 |
321 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421137183 CA347719570 |
324 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1421137183 CA347719569 |
324 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347719577 rs781051911 |
325 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1783758 rs781051911 |
325 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA52467265 rs867129720 |
326 | M>V | No |
ClinGen Ensembl |
|
|
rs1239192904 CA347719592 |
327 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1783761 rs370077039 |
329 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214800362 CA347719628 |
332 | V>G | No |
ClinGen gnomAD |
|
|
rs373041892 CA1783764 |
332 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1783765 rs760811058 |
334 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763574789 CA52467312 |
336 | G>D | No |
ClinGen TOPMed |
|
|
rs776886146 CA347719655 |
337 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776886146 CA1783767 |
337 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783768 rs759786951 |
339 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA52467339 rs866589246 |
340 | S>N | No |
ClinGen Ensembl |
|
|
rs1458492172 CA347719682 |
341 | I>M | No |
ClinGen gnomAD |
|
|
rs764894369 CA1783769 |
346 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1783770 rs752549461 |
347 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA347719725 rs752549461 |
347 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs183035620 CA1783771 |
348 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347719749 rs1574097133 |
351 | V>G | No |
ClinGen Ensembl |
|
|
rs149921109 CA1783774 |
356 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552657529 CA1783775 |
356 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1783776 rs573097940 |
357 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347719794 rs1559005964 |
358 | N>I | No |
ClinGen Ensembl |
|
|
CA347719808 rs1255653165 |
360 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1255653165 CA347719806 |
360 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1783779 rs755850728 |
362 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783778 rs755850728 |
362 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368247965 CA1783780 |
363 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347719827 rs1303603199 |
363 | L>I | No |
ClinGen TOPMed |
|
|
CA347719838 rs148629978 |
364 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1783781 rs538556488 |
364 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1783783 rs747068163 |
366 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs370817712 CA1783785 |
369 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762867969 CA1783789 |
371 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1783788 CA1783787 rs753328913 |
371 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763919255 CA1783790 |
372 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170183806 CA347719933 |
373 | P>R | No |
ClinGen TOPMed |
|
|
CA52467439 rs868585007 |
373 | P>S | No |
ClinGen Ensembl |
|
|
CA347719950 rs1416298602 |
374 | E>G | No |
ClinGen gnomAD |
|
|
CA347719975 rs767084300 |
375 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs761871186 CA1783792 |
375 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749962291 CA1783794 |
376 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 376 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347719986 rs749962291 |
376 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783795 rs755651729 |
378 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783796 rs779823178 |
379 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1783799 rs778221126 |
382 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783800 rs151151816 |
383 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151151816 CA52467471 |
383 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231220198 CA347720103 |
384 | R>G | No |
ClinGen TOPMed |
|
|
rs960546793 CA52467478 |
386 | Y>H | No |
ClinGen TOPMed |
|
|
CA1783801 rs144557284 |
387 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477544729 CA347720169 |
388 | H>N | No |
ClinGen gnomAD |
|
|
CA1783803 rs746015520 |
389 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs781182520 CA1783802 |
389 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1436198766 CA347720215 |
392 | F>L | No |
ClinGen gnomAD |
|
|
CA1783806 rs762626892 |
393 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA347720257 rs1308450277 |
395 | N>K | No |
ClinGen gnomAD |
|
|
CA52467504 rs372431096 |
395 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA52467507 rs913829619 |
396 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA347720288 rs1364669980 |
398 | K>* | No |
ClinGen gnomAD |
|
|
CA347720292 rs1218039245 |
398 | K>R | No |
ClinGen gnomAD |
|
|
rs1278354888 CA347720304 |
399 | L>P | No |
ClinGen gnomAD |
|
|
CA347720368 rs1487985414 |
405 | E>K | No |
ClinGen gnomAD |
|
|
CA347720379 rs1278418998 |
406 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 406 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1783809 rs138879933 |
407 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347720405 rs1476965978 |
408 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347720415 rs1190552099 |
409 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347720417 rs1190552099 |
409 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1183508335 CA347722054 |
415 | I>F | No |
ClinGen gnomAD |
|
|
rs1183508335 CA347722052 |
415 | I>V | No |
ClinGen gnomAD |
|
|
rs1046714785 CA347722074 |
417 | Q>* | No |
ClinGen TOPMed |
|
|
CA52477631 rs1046714785 |
417 | Q>K | No |
ClinGen TOPMed |
|
|
CA52477637 rs143705360 |
420 | N>K | No |
ClinGen ESP |
|
|
rs1164944764 CA347722130 |
421 | N>S | No |
ClinGen gnomAD |
|
|
rs775166776 CA1783858 |
422 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347722247 rs1331333525 |
430 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 431 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338878981 CA347722282 |
432 | L>R | No |
ClinGen gnomAD |
|
|
CA347722340 rs1357527152 |
437 | L>R | No |
ClinGen gnomAD |
|
|
rs61730516 CA347722377 |
439 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1783864 rs201849374 |
440 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347722394 rs755157253 |
441 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783866 rs779244735 |
442 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA52477701 rs975867468 |
444 | I>F | No |
ClinGen TOPMed |
|
|
rs377008432 CA52477713 |
444 | I>T | No |
ClinGen Ensembl |
|
|
CA52477689 rs975867468 |
444 | I>V | No |
ClinGen TOPMed |
|
|
CA1783868 rs185733242 |
446 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA1783871 rs770890063 |
448 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs370080477 CA1783872 |
449 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347722570 rs370080477 |
449 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745354724 CA1783873 |
450 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1783875 rs139560075 |
452 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768298295 CA1783877 |
455 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1460336084 COSM74189 CA347722718 |
456 | Y>C | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1783878 rs754051533 |
457 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783879 rs754051533 |
457 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52479427 rs1021829584 |
459 | T>I | No |
ClinGen TOPMed |
|
|
CA1783908 rs140576686 |
460 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 460 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1783910 rs756037431 |
462 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780020637 CA1783911 |
464 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748771545 CA1783913 |
467 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs748771545 CA1783912 |
467 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA52479482 rs1031301300 |
470 | A>V | No |
ClinGen gnomAD |
|
|
CA52479487 rs996773917 |
471 | P>L | No |
ClinGen TOPMed |
|
|
rs778514856 CA1783914 |
471 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347723482 rs1202935718 |
472 | L>V | No |
ClinGen gnomAD |
|
|
rs747704481 CA1783915 |
473 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1783917 rs777068881 |
474 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771769112 CA1783916 |
474 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347723513 rs746293227 |
477 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1783918 rs746293227 COSM722819 |
477 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1176810144 COSM1023991 CA347723525 |
478 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs191272424 CA1783919 |
479 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144405040 CA1783923 |
483 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347723555 rs1461893315 |
483 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 484 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397823879 CA347723570 |
485 | D>G | No |
ClinGen gnomAD |
|
|
rs1250325560 CA347723574 |
486 | D>N | No |
ClinGen TOPMed |
|
|
rs774506985 CA347723585 |
487 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1783924 rs774506985 |
487 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA347723582 rs1205087003 |
487 | E>K | No |
ClinGen TOPMed |
|
|
rs772383131 CA52479562 |
488 | Y>C | No |
ClinGen gnomAD |
|
|
CA1783926 rs767790721 |
490 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767790721 CA1783927 |
490 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1783925 rs761877252 |
490 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1292061416 CA347723632 |
492 | I>V | No |
ClinGen gnomAD |
|
|
rs1355613945 COSM1023992 CA347723650 |
493 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1355613945 CA347723649 |
493 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1217636293 CA347723728 |
500 | T>I | No |
ClinGen TOPMed |
|
|
CA347723724 rs1574109957 |
500 | T>P | No |
ClinGen Ensembl |
|
|
rs1481704200 CA347723739 |
501 | Q>P | No |
ClinGen gnomAD |
|
|
rs948665847 CA52479620 |
502 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs140196514 CA1783930 |
502 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140196514 CA1783931 |
502 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347723783 rs1421343950 |
505 | S>F | No |
ClinGen gnomAD |
|
|
CA1783934 rs747697303 |
506 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783935 rs142449598 COSM1201567 |
506 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1783966 rs575970892 |
509 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1467104886 CA347723902 |
509 | D>V | No |
ClinGen gnomAD |
|
|
rs563778358 CA1783967 |
510 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455250107 CA347723942 |
512 | S>I | No |
ClinGen gnomAD |
|
|
CA52480560 rs368520967 |
513 | P>L | No |
ClinGen gnomAD |
|
|
CA347723953 rs1559012822 |
513 | P>S | No |
ClinGen Ensembl |
|
|
CA347723961 rs1400827410 |
514 | L>M | No |
ClinGen gnomAD |
|
|
CA1783971 rs140550487 |
515 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1783973 rs763642553 COSM198944 |
515 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA347723974 rs763642553 |
515 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140550487 CA1783972 |
515 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221821666 CA347723979 |
516 | I>V | No |
ClinGen TOPMed |
|
|
CA52480612 rs921809362 |
518 | E>G | No |
ClinGen TOPMed |
|
|
rs147683550 CA347724023 CA1783975 |
519 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1783976 rs780960640 |
522 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1783977 rs754125772 |
523 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278050729 CA347724048 |
523 | H>Y | No |
ClinGen gnomAD |
|
|
CA347724077 rs1051375019 |
527 | H>L | No |
ClinGen TOPMed |
|
|
CA52480625 rs1051375019 |
527 | H>R | No |
ClinGen TOPMed |
|
|
CA347724087 rs1162520466 |
529 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 531 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347724124 rs1170459352 |
534 | V>M | No |
ClinGen TOPMed |
|
|
rs185649363 CA1783980 |
535 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 536 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs890225259 CA52480650 |
536 | F>Y | No |
ClinGen TOPMed |
|
|
CA347724149 rs559375951 |
537 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758918218 CA1783982 |
538 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777762408 CA1783983 |
539 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA52480679 rs940428248 |
540 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1783986 rs200102903 |
541 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375599243 CA1783985 |
541 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769584782 CA1783988 |
545 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1783989 rs769584782 |
545 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347724202 rs1407478606 |
546 | H>R | No |
ClinGen gnomAD |
|
|
rs925953854 CA52480733 |
547 | Y>H | No |
ClinGen Ensembl |
|
|
rs1574111526 CA347724208 |
547 | Y>S | No |
ClinGen Ensembl |
|
|
CA1783992 rs773988981 |
548 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1335343890 CA347724214 |
548 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347724220 rs1574111546 |
549 | Y>S | No |
ClinGen Ensembl |
|
|
rs376394445 CA1783993 |
551 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1783994 rs767042346 |
551 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347724254 rs1273783412 |
554 | P>A | No |
ClinGen gnomAD |
|
|
CA1783995 rs372666354 |
554 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1783996 rs755741624 |
555 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178013028 CA347724265 |
556 | D>Y | No |
ClinGen TOPMed |
|
|
rs753062919 CA1783998 |
557 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs778311053 CA1784000 |
561 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1574111607 CA347724300 |
561 | I>V | No |
ClinGen Ensembl |
|
|
rs1419161192 CA347724312 |
563 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347724310 rs1419161192 |
563 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1170913640 CA347724338 |
565 | R>K | No |
ClinGen gnomAD |
|
|
CA1784013 rs760306737 |
565 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1360606313 COSM290305 CA347724403 |
571 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1288996763 CA347724423 |
572 | K>R | No |
ClinGen TOPMed |
|
|
rs1404523491 CA347724456 |
575 | L>V | No |
ClinGen gnomAD |
|
|
rs1432073410 CA347724469 |
576 | K>E | No |
ClinGen TOPMed |
|
|
rs764474361 CA1784017 |
578 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1784018 rs752014107 |
579 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1784020 rs781268089 |
581 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs145950088 CA1784021 |
583 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 583 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347724595 rs1234571669 |
585 | Y>D | No |
ClinGen gnomAD |
|
|
CA1784024 rs749056484 |
587 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768527316 CA1784025 |
588 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203870682 CA347724637 |
588 | S>P | No |
ClinGen gnomAD |
|
|
rs1251527865 CA347724672 |
591 | T>N | No |
ClinGen gnomAD |
|
|
rs1190849730 CA347724667 |
591 | T>P | No |
ClinGen gnomAD |
|
|
rs1453991467 CA347724677 |
592 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347724676 rs1453991467 |
592 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA52481119 rs927491735 COSM477776 |
593 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA347724693 rs1266619735 |
594 | S>T | No |
ClinGen TOPMed |
|
| rs748038503 | 595 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1784026 rs200295176 |
595 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1451769259 CA347724720 |
596 | V>L | No |
ClinGen gnomAD |
|
|
CA1784050 rs746497730 |
597 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA1784051 rs770379980 |
597 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs945435453 CA52481611 |
599 | S>P | No |
ClinGen TOPMed |
|
|
COSM3391901 rs1364763006 CA347724808 |
600 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs759120670 CA1784053 |
600 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1784054 rs759120670 |
600 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA52481631 rs374840487 |
601 | V>L | No |
ClinGen ESP TOPMed |
|
|
rs1191936610 CA347724831 |
602 | S>P | No |
ClinGen TOPMed |
|
|
CA1784056 rs762130482 |
603 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768033531 CA1784057 |
604 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA347724878 rs1489950630 |
605 | Q>H | No |
ClinGen TOPMed |
|
|
rs766512708 CA1784060 |
606 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA52481682 rs1003317834 |
607 | I>V | No |
ClinGen Ensembl |
|
|
CA1784061 rs199790791 |
608 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784062 rs199790791 |
608 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149864695 CA1784063 |
608 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475504295 CA347724961 |
612 | Q>* | No |
ClinGen gnomAD |
|
|
rs777645164 CA347724992 |
614 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1784066 rs777645164 |
614 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461161238 CA347725009 |
615 | P>Q | No |
ClinGen gnomAD |
|
|
rs767022280 CA1784067 |
616 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347725023 rs1574112958 |
617 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 618 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780674980 CA1784069 |
618 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1201565 rs148563074 CA1784070 |
619 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA347725057 rs148563074 |
619 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229398294 CA347725067 |
620 | H>R | No |
ClinGen gnomAD |
|
|
rs1344619093 CA347725062 |
620 | H>Y | No |
ClinGen TOPMed |
|
|
CA347725089 rs1315262473 |
622 | S>T | No |
ClinGen gnomAD |
|
|
rs1191310582 CA347725100 |
623 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1191310582 CA347725099 |
623 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs148219000 CA1784073 |
623 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1784075 rs773642498 |
624 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347725123 rs1208750223 |
626 | P>A | No |
ClinGen gnomAD |
|
|
rs146508149 CA1784077 |
627 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776838342 CA1784078 |
628 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs759739621 CA1784079 |
629 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765526017 CA1784080 |
629 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1784082 rs754286149 |
630 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1784083 rs754286149 |
630 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1784084 rs751437154 |
632 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574113092 CA347725196 |
633 | L>F | No |
ClinGen Ensembl |
|
|
rs781153668 CA1784086 |
634 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757171251 CA1784085 |
634 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1784088 rs755577067 |
635 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1784087 rs201906694 |
635 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779642440 CA347725229 |
636 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs748837524 CA1784090 |
637 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1344508065 CA347725256 |
638 | L>I | No |
ClinGen gnomAD |
|
|
rs1232457857 CA347725279 |
640 | K>R | No |
ClinGen gnomAD |
|
|
CA1784113 rs746309611 |
642 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770397651 CA347725761 |
642 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1784114 COSM2825845 rs770397651 |
642 | T>M | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA52482143 rs374701098 |
643 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374701098 CA1784117 |
643 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200109873 CA52482148 |
643 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs1362879624 CA347725766 |
644 | L>V | No |
ClinGen TOPMed |
|
|
CA347725770 rs1161853426 |
645 | Q>* | No |
ClinGen TOPMed |
|
|
CA347725781 rs1574113713 |
646 | Y>S | No |
ClinGen Ensembl |
|
|
rs774514356 CA1784118 |
647 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs369097574 CA1784120 |
648 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750227113 CA1784121 |
650 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347725813 rs1574113764 |
651 | L>R | No |
ClinGen Ensembl |
|
|
rs1574113775 CA347725820 |
653 | T>P | No |
ClinGen Ensembl |
|
|
CA1784124 rs140443890 |
654 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784123 rs140443890 |
654 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149301704 CA1784126 |
654 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784125 rs149301704 COSM419057 |
654 | R>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1046683347 CA347725827 |
655 | A>P | No |
ClinGen Ensembl |
|
|
rs1046683347 CA52482191 |
655 | A>T | No |
ClinGen Ensembl |
|
|
rs758128177 CA347725843 |
657 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758128177 CA1784128 |
657 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs907261063 CA52482196 |
659 | P>S | No |
ClinGen gnomAD |
|
|
rs1212785912 CA347725862 |
660 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1212785912 CA347725860 |
660 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373268251 CA1784130 |
661 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784131 rs373268251 |
661 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347725881 rs1574113878 |
663 | E>D | No |
ClinGen Ensembl |
|
|
rs1574113909 CA347725899 |
666 | D>A | No |
ClinGen Ensembl |
|
|
CA347725897 rs142499606 |
666 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784133 rs142499606 |
666 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347725907 rs1231795260 |
667 | L>P | No |
ClinGen gnomAD |
|
|
rs768728722 CA1784134 |
668 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1414774803 CA347725917 |
669 | V>F | No |
ClinGen gnomAD |
|
|
CA347725935 rs1474522076 |
672 | G>S | No |
ClinGen gnomAD |
|
|
CA347725955 CA347725956 rs1162965624 |
674 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM1669150 rs1055763971 CA52482223 |
677 | L>F | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1784136 rs563336716 |
678 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs894479147 CA52482245 |
678 | L>R | No |
ClinGen Ensembl |
|
|
rs201082018 CA1784138 |
679 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA347725995 rs760570294 |
681 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1784139 rs760570294 |
681 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347726006 rs1408237257 |
683 | T>A | No |
ClinGen TOPMed |
|
|
rs776592449 CA1784141 |
683 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202016851 CA1784142 |
684 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764783462 CA1784144 |
685 | A>V | No |
ClinGen ExAC |
|
|
CA347726617 rs1191410118 |
688 | S>P | No |
ClinGen gnomAD |
|
|
rs763726101 CA1784164 |
690 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347726642 rs1485602004 |
691 | S>N | No |
ClinGen TOPMed |
|
|
rs756870048 CA1784166 |
693 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866756949 CA52485324 |
693 | P>T | No |
ClinGen Ensembl |
|
|
CA1784168 rs531742632 |
694 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347726663 rs1404195977 |
695 | V>I | No |
ClinGen gnomAD |
|
|
CA347726664 rs1404195977 |
695 | V>L | No |
ClinGen gnomAD |
|
|
CA1784170 rs779447766 |
696 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347726671 rs1398889110 |
696 | P>S | No |
ClinGen gnomAD |
|
|
rs1436797889 CA347726674 |
697 | V>L | No |
ClinGen gnomAD |
|
|
CA1784173 rs777854495 |
698 | E>K | No |
ClinGen ExAC |
|
|
CA1784174 rs377683879 |
699 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784175 rs771063336 |
700 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs898411552 CA347726708 |
702 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs898411552 CA52485378 |
702 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs926624351 CA52485387 |
703 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs769820758 CA1784178 |
703 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778788180 CA1784180 |
705 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150909715 CA1784179 |
705 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784182 rs147307623 |
707 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147307623 CA347726732 |
707 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1784184 rs767136408 |
708 | V>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8NE01
4 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| magnesium ion homeostasis | Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6P4Q7 | CNNM4 | Metal transporter CNNM4 | Homo sapiens (Human) | PR |
| Q9H8M5 | CNNM2 | Metal transporter CNNM2 | Homo sapiens (Human) | PR |
| Q3TWN3 | Cnnm2 | Metal transporter CNNM2 | Mus musculus (Mouse) | PR |
| Q69ZF7 | Cnnm4 | Metal transporter CNNM4 | Mus musculus (Mouse) | PR |
| P0C588 | Cnnm4 | Metal transporter CNNM4 | Rattus norvegicus (Rat) | PR |
| Q8RY60 | CBSDUF7 | DUF21 domain-containing protein At1g47330 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAVAAAGR | LGWLFAALCL | GNAAGEAAPG | PRVLGFCLEE | DGAAGAGWVR | GGAARDTPDA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TFLLRLFGPG | FANSSWSWVA | PEGAGCREEA | ASPAGEWRAL | LRLRLRAEAV | RPHSALLAVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VEPGGGAAEE | AAPPWALGLG | AAGLLALAAL | ARGLQLSALA | LAPAEVQVLR | ESGSEAERAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARRLEPARRW | AGCALGALLL | LASLAQAALA | VLLYRAAGQR | AVPAVLGSAG | LVFLVGEVVP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAVSGRWTLA | LAPRALGLSR | LAVLLTLPVA | LPVGQLLELA | ARPGRLRERV | LELARGGGDP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YSDLSKGVLR | CRTVEDVLTP | LEDCFMLDAS | TVLDFGVLAS | IMQSGHTRIP | VYEEERSNIV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DMLYLKDLAF | VDPEDCTPLS | TITRFYNHPL | HFVFNDTKLD | AVLEEFKRGK | SHLAIVQKVN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NEGEGDPFYE | VLGLVTLEDV | IEEIIRSEIL | DESEDYRDTV | VKRKPASLMA | PLKRKEEFSL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FKVSDDEYKV | TISPQLLLAT | QRFLSREVDV | FSPLRISEKV | LLHLLKHPSV | NQEVRFDESN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RLATHHYLYQ | RSQPVDYFIL | ILQGRVEVEI | GKEGLKFENG | AFTYYGVSAL | TVPSSVHQSP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VSSLQPIRHD | LQPDPGDGTH | SSAYCPDYTV | RALSDLQLIK | VTRLQYLNAL | LATRAQNLPQ |
| 670 | 680 | 690 | 700 | ||
| SPENTDLQVI | PGSQTRLLGE | KTTTAAGSSH | SRPGVPVEGS | PGRNPGV |