A6NI56
PR
Gene name |
CCDC154 |
Protein name |
Coiled-coil domain-containing protein 154 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:645811 |
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 A6NI56
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NI56-F1 | Predicted | AlphaFoldDB |
648 variants for A6NI56
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7809761 rs779080877 |
2 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250982140 CA394181547 |
3 | E>D | No |
ClinGen gnomAD |
|
|
CA7809747 rs746747782 |
4 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928278647 CA394181543 |
4 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1157344478 CA394181524 |
5 | A>P | No |
ClinGen TOPMed |
|
|
CA7809746 rs375651819 |
6 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394181513 rs1243648381 |
6 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394181510 rs1243648381 |
6 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394181452 rs1310347394 |
9 | P>L | No |
ClinGen TOPMed |
|
|
CA394181453 rs1449281506 |
9 | P>S | No |
ClinGen TOPMed |
|
|
rs1226941455 CA394181409 |
12 | A>P | No |
ClinGen gnomAD |
|
|
rs1221913214 CA394181400 |
12 | A>V | No |
ClinGen TOPMed |
|
|
CA7809745 rs186162819 |
13 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368557227 CA7809744 |
14 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1025865961 CA276664340 |
15 | P>R | No |
ClinGen TOPMed |
|
|
COSM3817238 CA394181349 rs1596206762 |
16 | S>F | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA394181344 rs1391020679 |
17 | Q>* | No |
ClinGen gnomAD |
|
|
CA394181337 rs1161185199 |
17 | Q>H | No |
ClinGen gnomAD |
|
|
rs567163688 CA276664338 |
19 | R>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7809742 COSM967274 rs201550182 |
21 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7809741 rs533534426 |
22 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394181290 rs533534426 |
22 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394181295 rs1596206748 |
22 | T>P | No |
ClinGen Ensembl |
|
|
rs1465122717 CA394181262 |
25 | D>E | No |
ClinGen gnomAD |
|
|
CA394181269 rs1212453976 |
25 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs780637096 CA7809740 |
26 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA276664310 rs879835392 |
27 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394181236 rs1456407163 |
28 | L>I | No |
ClinGen gnomAD |
|
|
rs1596206727 CA394181231 |
28 | L>R | No |
ClinGen Ensembl |
|
|
CA394181191 rs1236099873 |
31 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1275771379 CA394181198 |
31 | A>S | No |
ClinGen gnomAD |
|
|
CA276664292 rs1027416593 |
32 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA276664303 rs951796757 |
32 | G>R | No |
ClinGen gnomAD |
|
|
rs113602113 CA394181127 |
37 | P>S | No |
ClinGen gnomAD |
|
|
rs113602113 CA276664273 |
37 | P>T | No |
ClinGen gnomAD |
|
|
CA7809737 rs34470360 |
38 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253361703 CA394181095 |
39 | P>L | No |
ClinGen gnomAD |
|
|
CA276664252 rs999513253 |
41 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA276664231 rs1013745975 |
43 | E>D | No |
ClinGen Ensembl |
|
|
CA394181039 rs1375858997 |
44 | E>K | No |
ClinGen gnomAD |
|
|
CA394181018 rs1192528334 |
45 | L>F | No |
ClinGen gnomAD |
|
|
rs550754764 CA276664214 |
46 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA276664201 rs935353815 |
49 | Y>C | No |
ClinGen TOPMed |
|
|
rs1186317358 CA394180935 |
50 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394180951 rs1567260132 |
50 | E>Q | No |
ClinGen Ensembl |
|
|
CA7809735 rs769659983 |
50 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475776474 CA394180932 |
51 | S>P | No |
ClinGen TOPMed |
|
|
CA276664191 rs1011911464 |
52 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394180913 rs1011911464 |
52 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1479071863 CA394180898 |
53 | H>P | No |
ClinGen TOPMed |
|
|
rs925240020 CA276664184 |
54 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394180886 rs1279802044 |
54 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1279802044 CA394180885 |
54 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201466139 CA7809734 |
55 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752373459 CA7809733 |
56 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs932034293 CA276664145 |
57 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1291175536 CA394180839 |
58 | A>S | No |
ClinGen TOPMed |
|
|
CA7809731 rs759044949 |
58 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776125516 CA7809730 |
59 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276664121 rs776125516 |
59 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276664118 rs562085882 |
61 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562085882 CA7809729 |
61 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276664115 rs562085882 |
61 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809726 rs200706751 |
62 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276664088 rs907831646 |
63 | Q>* | No |
ClinGen Ensembl |
|
|
CA276664086 rs777375563 |
63 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7809725 rs747948049 |
65 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774625590 CA394180742 |
65 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774625590 CA7809724 |
65 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA394180750 rs747948049 |
65 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs763909829 CA276664072 |
66 | A>T | No |
ClinGen gnomAD |
|
|
rs1194446783 CA394180723 |
67 | K>E | No |
ClinGen TOPMed |
|
|
CA394180708 rs1372586826 |
68 | H>Y | No |
ClinGen TOPMed |
|
|
rs749326742 CA7809722 |
69 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1344871992 CA394180676 |
69 | W>* | No |
ClinGen gnomAD |
|
|
CA394180687 rs1257479929 |
69 | W>G | No |
ClinGen gnomAD |
|
|
CA394180670 rs1195014284 |
70 | N>D | No |
ClinGen gnomAD |
|
|
rs1474508381 CA394180649 |
71 | Q>* | No |
ClinGen TOPMed |
|
|
rs974315471 CA276664059 |
71 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394180597 rs1237565552 |
74 | Q>H | No |
ClinGen gnomAD |
|
|
CA394180592 rs1450007146 |
75 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394180522 rs1596206473 |
76 | V>G | No |
ClinGen Ensembl |
|
|
CA7809701 rs554410546 |
77 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394180511 rs1332769499 |
78 | E>V | No |
ClinGen TOPMed |
|
|
rs1427863685 CA394180494 |
81 | A>T | No |
ClinGen gnomAD |
|
|
CA7809700 rs199617334 |
81 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276663790 rs920508779 |
82 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA276663782 rs980198269 |
83 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs980198269 CA394180462 |
83 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1463673340 CA394180452 |
84 | A>D | No |
ClinGen gnomAD |
|
|
CA7809697 rs76907972 |
87 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809698 rs35181211 |
87 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs992542877 CA276663779 |
88 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394180411 rs992542877 |
88 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs778141421 CA7809696 |
90 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394180362 rs1346568962 |
91 | Q>E | No |
ClinGen gnomAD |
|
|
rs758801620 CA7809695 |
92 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276663761 rs576194066 |
92 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs576194066 CA394180341 |
92 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs758801620 CA394180346 |
92 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394180334 rs1354553796 |
93 | C>R | No |
ClinGen TOPMed |
|
|
CA394180309 rs1288724050 |
94 | E>G | No |
ClinGen gnomAD |
|
|
rs1461174387 CA394180317 |
94 | E>K | No |
ClinGen TOPMed |
|
|
CA7809694 rs753466167 |
95 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759657210 CA276663722 |
95 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394180281 rs779738685 |
96 | A>D | No |
ClinGen ExAC TOPMed |
|
|
rs1031151070 CA276663707 |
96 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7809693 rs779738685 |
96 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs571009503 CA7809692 COSM1199893 |
97 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs904126936 CA394180264 |
98 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs776610240 CA276663681 |
98 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs904126936 CA276663685 |
98 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1484349180 CA394180247 |
99 | S>N | No |
ClinGen TOPMed |
|
|
rs1256496475 CA394180229 |
100 | L>R | No |
ClinGen TOPMed |
|
|
CA394180213 rs989912102 |
102 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA276663663 rs989912102 |
102 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394180215 rs1195669182 |
102 | R>W | No |
ClinGen TOPMed |
|
|
rs1238949547 CA394180208 |
103 | E>K | No |
ClinGen gnomAD |
|
|
CA276663658 rs867422779 |
104 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs867422779 CA394180188 |
104 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA276663652 rs900477350 |
105 | L>F | No |
ClinGen TOPMed |
|
|
CA394180155 rs1274743293 |
106 | Q>H | No |
ClinGen gnomAD |
|
|
rs1305470127 CA394180120 |
108 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1375161035 CA394180129 |
108 | R>W | No |
ClinGen TOPMed |
|
|
rs1294383235 CA394180092 |
110 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1229288146 CA394180091 |
110 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA276663619 rs1024176640 |
111 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1567259872 CA394180037 |
115 | G>V | No |
ClinGen Ensembl |
|
|
rs1371641754 CA394180034 |
116 | S>P | No |
ClinGen gnomAD |
|
|
rs1596206348 CA394180017 |
118 | L>M | No |
ClinGen Ensembl |
|
|
CA7809690 rs767427990 |
118 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993926255 CA276663610 |
119 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1165791542 CA394179997 |
120 | Q>* | No |
ClinGen gnomAD |
|
|
CA276663608 rs1048052391 |
122 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1252437789 CA394179956 |
124 | E>K | No |
ClinGen gnomAD |
|
|
rs111972266 CA276663607 |
125 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394179935 rs763953899 |
126 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763953899 COSM1199892 CA7809687 |
126 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751331127 CA7809688 |
126 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276663587 rs948396218 |
127 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs537285926 CA276663589 |
127 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394179923 rs1351708874 |
128 | A>T | No |
ClinGen gnomAD |
|
|
rs992595394 CA276663555 |
128 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA276663548 rs955745533 |
129 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394179902 rs1373195785 |
130 | Q>R | No |
ClinGen TOPMed |
|
|
rs1294131317 CA394179897 |
131 | A>T | No |
ClinGen gnomAD |
|
|
rs1459645699 CA394179888 |
132 | P>A | No |
ClinGen gnomAD |
|
|
CA276663532 rs568525805 |
133 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1339496508 CA394179862 |
134 | K>N | No |
ClinGen gnomAD |
|
|
CA394179871 rs1217129571 |
134 | K>Q | No |
ClinGen gnomAD |
|
|
rs1183940093 CA394179844 |
136 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA276663523 rs548421132 |
136 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs770207986 CA394179831 |
137 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770207986 CA7809684 |
137 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276663509 rs374630467 |
137 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7809682 rs776589674 |
138 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1213511156 CA394179828 |
138 | E>K | No |
ClinGen gnomAD |
|
|
CA394179764 rs1374421519 |
140 | S>F | No |
ClinGen gnomAD |
|
|
CA7809663 rs765499493 |
142 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765499493 CA394179752 |
142 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994890842 CA276663075 |
142 | L>P | No |
ClinGen Ensembl |
|
|
CA7809664 rs765499493 |
142 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394179706 rs1446758087 |
146 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1257257517 CA394179702 |
146 | M>T | No |
ClinGen gnomAD |
|
|
rs759700857 CA7809662 |
148 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759700857 CA394179677 |
148 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279706163 CA394179666 |
150 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1344648071 CA394179651 |
151 | K>* | No |
ClinGen gnomAD |
|
|
CA276663062 rs1044208223 |
151 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1422730739 CA394179603 |
154 | V>G | No |
ClinGen Ensembl |
|
|
CA394179590 rs1359126613 |
156 | V>A | No |
ClinGen TOPMed |
|
|
CA394179589 rs1359126613 |
156 | V>G | No |
ClinGen TOPMed |
|
|
rs1231262604 CA394179594 |
156 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA276662722 rs751611266 |
157 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7809653 rs541513415 |
157 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215382087 CA394179583 |
158 | E>K | No |
ClinGen gnomAD |
|
|
rs1272262590 CA394179576 |
159 | A>P | No |
ClinGen gnomAD |
|
|
CA394179571 rs1224289685 |
159 | A>V | No |
ClinGen gnomAD |
|
|
rs550005293 CA7809652 |
160 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809651 rs529947142 |
161 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394179559 rs1035495353 |
162 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7809650 rs756712895 |
162 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394179557 rs756712895 |
162 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394179558 rs1035495353 |
162 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs746585222 CA7809649 |
164 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1459511964 CA394179531 |
166 | R>K | No |
ClinGen gnomAD |
|
|
rs1160288649 CA394179511 |
168 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA276662699 rs771678830 |
170 | Q>* | No |
ClinGen Ensembl |
|
|
CA394179483 rs1261234434 |
170 | Q>H | No |
ClinGen TOPMed |
|
|
rs1158119143 CA394179461 |
172 | A>V | No |
ClinGen gnomAD |
|
|
rs758172770 CA276662693 |
173 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs903126179 CA276662692 |
174 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1021960710 CA276662691 |
174 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394179444 rs903126179 |
174 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394179415 rs1252157092 |
177 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1252157092 CA394179417 |
177 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276662689 rs899459919 |
177 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7809647 rs758425232 |
178 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs567595349 CA276662673 |
179 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809646 rs567595349 |
179 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394179399 rs567595349 |
179 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596205797 CA394179378 |
180 | E>D | No |
ClinGen Ensembl |
|
|
CA276662672 rs547602890 |
182 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA276662671 rs905328270 |
183 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1438276463 COSM3706860 CA394179335 |
184 | R>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1161830255 CA394179174 |
187 | K>E | No |
ClinGen TOPMed |
|
|
rs1206203664 CA394179105 |
190 | D>E | No |
ClinGen gnomAD |
|
|
rs748075268 CA7809629 |
190 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7809628 rs778966340 |
193 | Q>H | No |
ClinGen ExAC |
|
|
rs1305339039 CA394179048 |
194 | Q>* | No |
ClinGen gnomAD |
|
|
rs551449122 CA276662073 |
197 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1417603640 CA394178953 |
198 | G>C | No |
ClinGen gnomAD |
|
|
rs1234264838 CA394178949 |
198 | G>D | No |
ClinGen gnomAD |
|
|
rs754724539 CA394178945 |
199 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531315754 CA7809626 |
199 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809627 rs754724539 |
199 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394178922 rs1313483484 |
200 | E>V | No |
ClinGen TOPMed |
|
|
CA394178894 rs1596205602 |
202 | A>G | No |
ClinGen Ensembl |
|
|
CA394178873 rs1374174640 |
204 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA276662031 rs796395050 |
205 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750460090 CA7809623 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1169759648 CA394178832 |
206 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1461741687 CA394178825 |
207 | Q>* | No |
ClinGen gnomAD |
|
|
rs1204140030 CA394178744 |
211 | E>Q | No |
ClinGen TOPMed |
|
|
rs185070519 CA276662020 |
212 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA276662019 rs548697069 |
213 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs140200868 CA7809622 |
215 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1003100122 CA276662018 |
215 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1178431371 CA394178677 |
216 | R>T | No |
ClinGen gnomAD |
|
|
CA394178662 rs1250385819 |
218 | D>H | No |
ClinGen gnomAD |
|
|
CA394178664 rs1250385819 |
218 | D>N | No |
ClinGen gnomAD |
|
|
rs1262478048 CA394178638 |
220 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394178587 rs1337440934 |
222 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394178577 rs1271603625 |
223 | R>K | No |
ClinGen gnomAD |
|
|
rs1317975283 CA394178538 |
224 | M>I | No |
ClinGen gnomAD |
|
|
CA394176574 rs779927486 |
226 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779927486 CA7809608 |
226 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394176547 rs1392863310 |
227 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1199843145 CA394176515 |
229 | T>N | No |
ClinGen TOPMed |
|
|
CA394176492 rs1447970144 |
230 | K>N | No |
ClinGen gnomAD |
|
|
rs1018017897 CA276657033 |
230 | K>T | No |
ClinGen Ensembl |
|
|
CA7809607 rs755941093 |
231 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750625067 CA7809606 |
231 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs980427537 CA394176452 |
232 | G>A | No |
ClinGen TOPMed |
|
|
rs980427537 CA276657013 |
232 | G>D | No |
ClinGen TOPMed |
|
|
rs1031019687 CA276657021 |
232 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1031019687 CA276657023 |
232 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1346057255 CA394176414 |
234 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394176368 rs1228371732 |
236 | S>N | No |
ClinGen gnomAD |
|
|
CA394176318 rs1297376869 |
237 | L>P | No |
ClinGen gnomAD |
|
|
CA276656985 rs949880058 |
238 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs993722067 CA276656982 |
238 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1279639879 CA394176167 |
244 | A>T | No |
ClinGen TOPMed |
|
|
rs375024782 CA394176099 |
247 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276656969 rs549704561 |
248 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394176024 rs953864117 |
251 | Q>H | No |
ClinGen TOPMed |
|
|
rs1596204072 CA394175965 |
253 | S>I | No |
ClinGen Ensembl |
|
|
rs1006217770 CA276656934 |
256 | A>S | No |
ClinGen Ensembl |
|
|
rs1006217770 CA276656937 |
256 | A>T | No |
ClinGen Ensembl |
|
|
CA7809598 rs529941512 |
256 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1196614274 CA394175862 |
258 | E>G | No |
ClinGen gnomAD |
|
|
rs1226972209 CA394175868 |
258 | E>K | No |
ClinGen gnomAD |
|
|
CA7809584 rs777942614 |
261 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7809585 rs751545891 |
261 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7809583 rs545030062 |
262 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394175664 rs1452043577 |
263 | A>T | No |
ClinGen TOPMed |
|
|
CA7809581 rs190211752 |
264 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276656833 rs989811489 |
264 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA276656819 rs910966098 |
265 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs986544876 CA276656812 |
266 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA276656811 rs1044311915 |
267 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394175535 rs754264923 |
268 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7809579 rs754264923 |
268 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564038542 CA7809580 |
268 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1215321161 CA394175382 |
273 | G>D | No |
ClinGen gnomAD |
|
|
rs767229385 CA7809578 |
275 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA394175318 rs1030527485 |
276 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1030527485 CA276656792 |
276 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1289026054 CA394175326 |
276 | R>W | No |
ClinGen gnomAD |
|
|
CA276656789 rs1036855023 |
277 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA276656782 rs867487247 |
278 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs984282113 CA276656780 |
279 | L>P | No |
ClinGen TOPMed |
|
|
CA394175260 rs1238978526 |
280 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1371269742 CA394175256 |
280 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA276656774 rs953706076 |
281 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1016490294 CA394175219 |
282 | R>L | No |
ClinGen gnomAD |
|
|
rs1016490294 CA276656773 |
282 | R>Q | No |
ClinGen gnomAD |
|
|
rs1439129586 CA394175225 |
282 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs370275710 CA276656772 |
284 | E>G | No |
ClinGen TOPMed |
|
|
rs1369771876 CA394175171 |
285 | K>E | No |
ClinGen TOPMed |
|
|
rs1402893879 CA394175128 |
287 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1405891307 CA394175120 |
287 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394175123 rs1405891307 |
287 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394175125 rs1402893879 |
287 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394175090 rs1158119919 |
289 | L>R | No |
ClinGen gnomAD |
|
|
CA276656755 rs920965099 |
290 | M>R | No |
ClinGen TOPMed |
|
|
CA7809572 rs543638828 |
293 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543638828 CA7809573 |
293 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394175025 rs1195311926 |
293 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769728163 CA394175003 |
295 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394175005 rs769728163 |
295 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769728163 CA7809571 |
295 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394175008 rs1245868778 |
295 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs116378034 CA7809570 |
296 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394174992 rs116378034 |
296 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394174980 rs1215239625 |
298 | Q>K | No |
ClinGen gnomAD |
|
|
CA394174965 rs1567258064 |
299 | G>R | No |
ClinGen Ensembl |
|
|
CA394174952 rs1348211766 |
300 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7809568 rs771105661 |
301 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1174914500 CA394174937 |
301 | H>Y | No |
ClinGen TOPMed |
|
|
CA394174926 rs1041573077 COSM1199890 |
302 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA394174931 rs1217075833 |
302 | E>Q | No |
ClinGen gnomAD |
|
|
CA394174852 rs1233066413 |
304 | S>N | No |
ClinGen gnomAD |
|
|
rs1209457430 CA394174845 |
305 | H>R | No |
ClinGen TOPMed |
|
|
CA394174836 rs1206131743 |
306 | L>H | No |
ClinGen gnomAD |
|
|
CA394174822 rs1257755798 |
309 | Q>* | No |
ClinGen gnomAD |
|
|
CA394174816 rs1234439404 |
309 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1257755798 CA394174820 |
309 | Q>K | No |
ClinGen gnomAD |
|
|
rs1337584496 CA394174809 |
310 | C>F | No |
ClinGen gnomAD |
|
|
CA394174811 rs1337584496 |
310 | C>Y | No |
ClinGen gnomAD |
|
|
rs770740653 CA7809551 |
311 | Q>* | No |
ClinGen ExAC |
|
|
CA394174803 rs1310745476 |
311 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1020294579 CA394174786 |
314 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA276656620 rs932434559 |
314 | D>H | No |
ClinGen TOPMed |
|
|
rs1020294579 CA276656614 |
314 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394174779 rs1300148280 |
315 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1567257995 CA394174776 |
316 | A>T | No |
ClinGen Ensembl |
|
|
CA394174771 rs1185319335 |
316 | A>V | No |
ClinGen TOPMed |
|
|
CA394174770 rs965058246 |
317 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs965058246 CA276656605 |
317 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7809549 rs773413556 |
318 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1461949725 CA394174759 |
319 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA276656598 rs914115446 |
320 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394174742 rs1162135741 |
322 | K>Q | No |
ClinGen gnomAD |
|
|
rs1422757247 CA394174729 |
323 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1422757247 CA394174730 |
323 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394174725 rs1408009271 |
324 | V>L | No |
ClinGen gnomAD |
|
|
rs1428299686 CA394174716 |
325 | Q>R | No |
ClinGen TOPMed |
|
|
rs1178585461 CA394174708 |
326 | Q>R | No |
ClinGen gnomAD |
|
|
CA394174684 rs1214696674 |
329 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394174677 rs1264174795 |
330 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394174673 rs1172119308 |
331 | L>P | No |
ClinGen TOPMed |
|
|
rs1172119308 CA394174672 |
331 | L>R | No |
ClinGen TOPMed |
|
|
rs367946151 CA7809547 |
333 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309164261 CA394174660 |
333 | R>H | No |
ClinGen gnomAD |
|
|
CA276656570 rs1025071055 |
334 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA276656566 rs775572308 |
336 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394174641 rs1441322804 |
337 | A>V | No |
ClinGen gnomAD |
|
|
CA394174632 rs1457290764 |
338 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394174638 rs1291736155 |
338 | E>K | No |
ClinGen gnomAD |
|
|
rs572943366 CA7809544 |
341 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766229250 CA7809532 |
344 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394174482 rs1192077567 |
346 | G>E | No |
ClinGen gnomAD |
|
|
CA276656113 rs897055138 |
347 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs547611079 CA7809531 |
347 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547611079 CA7809530 |
347 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809529 rs763231516 |
352 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343126935 CA394174405 |
352 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1005215444 CA394174392 |
353 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1232236365 COSM2144039 CA394174398 |
353 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA276656107 COSM1563241 rs1005215444 |
353 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs888212911 CA276656089 |
354 | G>W | No |
ClinGen Ensembl |
|
|
rs1398021170 CA394174374 |
355 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1596203648 CA394174347 |
357 | A>T | No |
ClinGen Ensembl |
|
|
CA394174339 rs1312884455 |
357 | A>V | No |
ClinGen gnomAD |
|
|
rs774763237 CA394174335 |
358 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774763237 CA7809527 |
358 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7809525 rs749443933 |
361 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394174276 rs1466761372 |
362 | E>A | No |
ClinGen TOPMed |
|
|
rs1169177197 CA394174281 |
362 | E>K | No |
ClinGen gnomAD |
|
|
CA394174245 rs1250610483 |
364 | L>P | No |
ClinGen TOPMed |
|
|
rs1258394759 CA394174239 |
365 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs952100329 CA394174207 |
367 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs952100329 CA276656037 |
367 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276656035 rs551468714 |
368 | Q>L | No |
ClinGen 1000Genomes |
|
|
CA394174192 rs551468714 |
368 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs1166295596 CA394174178 |
369 | L>P | No |
ClinGen TOPMed |
|
|
rs1196565936 CA394174140 |
372 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780545865 CA7809524 |
372 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394174123 rs1318365454 |
374 | A>S | No |
ClinGen gnomAD |
|
|
CA394174126 rs1318365454 |
374 | A>T | No |
ClinGen gnomAD |
|
|
rs1216730253 CA394174114 |
375 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7809523 rs145873417 |
375 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394174112 rs1216730253 |
375 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA276656026 rs964202788 |
376 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1246314104 CA394174077 |
377 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1319926753 CA394174046 |
379 | H>Y | No |
ClinGen TOPMed |
|
|
CA394173996 rs1333119561 |
382 | L>P | No |
ClinGen gnomAD |
|
|
CA394173997 rs1333119561 |
382 | L>Q | No |
ClinGen gnomAD |
|
|
CA7809521 rs200441064 |
384 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394173903 rs1432558848 |
385 | L>V | No |
ClinGen TOPMed |
|
|
CA276655773 rs763801765 |
386 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs543092557 CA394173878 |
386 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543092557 CA7809501 |
386 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1361262093 CA394173873 |
387 | E>K | No |
ClinGen TOPMed |
|
|
CA394172767 rs1319122943 |
388 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1358649108 CA394172736 |
390 | R>Q | No |
ClinGen gnomAD |
|
|
rs573962603 CA276655761 |
390 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1158286167 CA394172715 |
392 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7809500 rs747444122 |
393 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394172707 rs1435495980 |
393 | E>K | No |
ClinGen gnomAD |
|
|
CA394172686 rs1192691520 |
394 | A>T | No |
ClinGen gnomAD |
|
|
rs1193576056 CA394172671 |
395 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394172664 rs925973153 |
396 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA276655735 rs925973153 |
396 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394172651 rs1194249666 |
397 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394172624 rs1283192065 |
400 | A>S | No |
ClinGen gnomAD |
|
|
rs533940963 CA7809496 |
401 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596203490 CA394172609 |
401 | G>V | No |
ClinGen Ensembl |
|
|
rs1436910850 CA394172604 |
402 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs976591077 CA276655714 |
405 | E>K | No |
ClinGen Ensembl |
|
|
CA394172540 rs1279412364 |
408 | G>C | No |
ClinGen gnomAD |
|
|
CA394172505 rs1338523454 |
411 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394172501 rs1567257607 |
412 | A>P | No |
ClinGen Ensembl |
|
|
CA394172448 rs1402656437 |
415 | S>N | No |
ClinGen TOPMed |
|
|
rs571439720 CA394172435 |
416 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750314480 CA394172430 |
416 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750314480 CA7809494 |
416 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571439720 CA7809495 |
416 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1412573456 CA394172418 |
417 | L>F | No |
ClinGen gnomAD |
|
|
rs751415802 CA7809492 |
418 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751415802 CA7809491 |
418 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478725916 CA394172384 |
419 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7809490 rs764364552 |
420 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952646922 CA276655670 |
420 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1001874766 CA276655659 |
422 | Q>K | No |
ClinGen Ensembl |
|
|
rs1328856679 CA394172289 |
423 | M>R | No |
ClinGen TOPMed |
|
|
CA276655657 rs906310100 |
425 | G>D | No |
ClinGen gnomAD |
|
|
rs374192849 CA276655658 |
425 | G>S | No |
ClinGen Ensembl |
|
|
rs1207427160 CA394172247 |
426 | L>I | No |
ClinGen TOPMed |
|
|
CA394171929 rs1192290618 |
433 | T>A | No |
ClinGen gnomAD |
|
|
CA276654208 rs1038519011 |
434 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs948345742 CA276654193 |
437 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394171836 rs1354739137 |
438 | A>S | No |
ClinGen gnomAD |
|
|
rs1354739137 CA394171832 |
438 | A>T | No |
ClinGen gnomAD |
|
|
rs1428928448 CA394171775 |
441 | K>R | No |
ClinGen TOPMed |
|
|
rs1567257170 CA394171757 |
442 | S>F | No |
ClinGen Ensembl |
|
|
CA394171744 rs1238184613 |
443 | L>P | No |
ClinGen gnomAD |
|
|
CA7809471 rs758266311 |
444 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394171693 rs1210953660 |
447 | A>V | No |
ClinGen gnomAD |
|
|
CA7809469 rs765564071 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7809470 rs574311061 |
450 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394171591 rs1304783846 |
453 | V>A | No |
ClinGen gnomAD |
|
|
rs1304783846 CA394171590 |
453 | V>G | No |
ClinGen gnomAD |
|
|
CA7809468 rs759469892 |
453 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs538546813 CA7809467 |
455 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394171563 rs1484557394 |
456 | H>N | No |
ClinGen TOPMed |
|
|
rs1281008095 CA394171549 |
458 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA276654096 rs978554617 |
458 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394171545 rs1363654278 |
459 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394171544 rs1363654278 |
459 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394171535 rs1596202943 |
460 | V>G | No |
ClinGen Ensembl |
|
|
rs1373810131 CA394171540 |
460 | V>L | No |
ClinGen gnomAD |
|
|
rs1435477946 CA394171534 |
461 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA276654083 rs968149139 |
461 | R>Q | No |
ClinGen gnomAD |
|
|
CA394171533 rs1435477946 |
461 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394171475 rs1596202937 |
464 | V>G | No |
ClinGen Ensembl |
|
|
rs1199278668 CA394171437 |
466 | G>V | No |
ClinGen gnomAD |
|
|
CA394171430 rs1168130922 |
467 | L>F | No |
ClinGen TOPMed |
|
|
CA276654082 rs112015572 |
468 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112015572 CA7809465 |
468 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265356865 CA394171416 |
468 | P>S | No |
ClinGen gnomAD |
|
|
CA394171405 rs1353241276 |
469 | Q>E | No |
ClinGen gnomAD |
|
|
CA394171329 rs1336469052 |
471 | I>V | No |
ClinGen gnomAD |
|
|
rs923974721 CA276653834 |
473 | S>G | No |
ClinGen Ensembl |
|
|
rs570758553 CA276653799 |
476 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs533329414 CA7809453 |
476 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA276653798 rs974981740 |
477 | K>E | No |
ClinGen TOPMed |
|
|
CA276653797 rs964516808 |
477 | K>R | No |
ClinGen Ensembl |
|
|
rs1422283681 CA394171181 |
478 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1596202820 CA394171174 |
478 | C>Y | No |
ClinGen Ensembl |
|
|
rs1241107843 CA394171117 |
481 | H>R | No |
ClinGen gnomAD |
|
|
CA394171089 rs1202776783 |
483 | S>N | No |
ClinGen gnomAD |
|
|
CA276653794 rs1018886446 |
484 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394171048 rs1193955483 |
485 | S>L | No |
ClinGen gnomAD |
|
|
CA394171011 rs1338199169 |
488 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394170972 rs1440625433 |
490 | S>C | No |
ClinGen TOPMed |
|
|
rs35583599 CA7809450 |
491 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs561677923 CA394170956 |
492 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809448 rs561677923 |
492 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276653769 rs898917182 |
495 | A>S | No |
ClinGen TOPMed |
|
|
CA394170921 rs898917182 |
495 | A>T | No |
ClinGen TOPMed |
|
|
rs1329921347 CA394170907 |
496 | R>T | No |
ClinGen gnomAD |
|
|
CA276653412 rs986074690 |
497 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA276653382 rs546018345 |
499 | K>E | No |
ClinGen 1000Genomes |
|
|
CA394170812 rs1442999368 |
501 | G>E | No |
ClinGen TOPMed |
|
|
rs1403576928 CA394170801 |
502 | A>G | No |
ClinGen gnomAD |
|
|
CA276653373 rs1030210129 |
502 | A>S | No |
ClinGen TOPMed |
|
|
CA394170793 rs1344973231 |
503 | L>P | No |
ClinGen gnomAD |
|
|
rs975820663 CA276653362 |
504 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA276653366 rs894046339 |
504 | R>W | No |
ClinGen TOPMed |
|
|
CA276653352 rs532105045 |
506 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394170750 rs1425535891 |
508 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1174247599 CA394170733 |
509 | T>M | No |
ClinGen gnomAD |
|
|
CA276653320 rs890548210 |
511 | L>V | No |
ClinGen Ensembl |
|
|
rs556065475 CA276653307 |
514 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809429 rs556065475 |
514 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394170699 rs1443368062 |
515 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs897217197 CA276653303 |
515 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs897217197 CA394170698 |
515 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1363356076 CA394170676 |
519 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394170667 rs1323438811 |
520 | D>N | No |
ClinGen gnomAD |
|
|
rs1460155385 CA394170659 |
521 | N>D | No |
ClinGen TOPMed |
|
|
CA394170654 rs1278959770 |
521 | N>K | No |
ClinGen gnomAD |
|
|
rs919127100 CA276653284 |
522 | P>R | No |
ClinGen Ensembl |
|
|
CA394170647 rs1419997407 |
523 | G>R | No |
ClinGen TOPMed |
|
|
rs750513094 CA7809427 |
524 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756119315 CA7809428 |
524 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359592205 CA394170625 |
526 | I>S | No |
ClinGen gnomAD |
|
|
rs1037924050 CA394170620 |
527 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394170622 rs1468210565 |
527 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1468210565 CA394170621 |
527 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276653218 rs1037924050 |
527 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762415553 CA7809425 |
528 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1416701937 CA394170605 |
529 | M>I | No |
ClinGen gnomAD |
|
|
rs371380380 CA276653193 |
530 | Q>E | No |
ClinGen Ensembl |
|
|
CA276653183 rs941358258 |
530 | Q>P | No |
ClinGen TOPMed |
|
|
rs1394216676 CA394170577 |
534 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1166060037 CA394170570 |
535 | T>A | No |
ClinGen gnomAD |
|
|
CA7809422 rs555676477 |
535 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394169936 rs1368018661 |
536 | F>C | No |
ClinGen TOPMed |
|
|
CA394169940 rs1289895466 |
536 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1406017741 CA394169933 |
537 | Q>K | No |
ClinGen TOPMed |
|
|
rs984746587 CA276652413 |
538 | N>K | No |
ClinGen Ensembl |
|
|
CA394169917 rs1596202184 |
539 | Q>K | No |
ClinGen Ensembl |
|
|
CA394169904 rs1274372639 |
540 | I>T | No |
ClinGen TOPMed |
|
|
rs1365520131 CA394169886 |
542 | K>N | No |
ClinGen TOPMed |
|
|
rs1245447828 CA394169889 |
542 | K>R | No |
ClinGen gnomAD |
|
|
CA394169882 rs1489612325 |
543 | L>P | No |
ClinGen gnomAD |
|
|
CA276652398 rs949891724 |
545 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs895531563 CA276652377 |
547 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394169851 rs1226865163 |
548 | Q>E | No |
ClinGen gnomAD |
|
|
rs370066683 CA7809415 |
548 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394169841 rs1436597479 |
549 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394169839 rs1366826869 |
550 | N>D | No |
ClinGen gnomAD |
|
|
rs1161283503 CA394169835 |
550 | N>S | No |
ClinGen gnomAD |
|
|
CA394169822 rs1423596462 |
552 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7809414 rs375820770 |
556 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394169763 rs1161704255 |
559 | N>D | No |
ClinGen gnomAD |
|
|
CA394169734 rs1417894295 |
561 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7809413 rs546479777 |
562 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394169725 rs1192234239 |
562 | A>V | No |
ClinGen gnomAD |
|
|
CA7809412 rs749085327 |
563 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576984321 CA7809411 |
563 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394169722 rs749085327 |
563 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998380269 CA276652090 |
565 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA276652084 rs896893376 |
565 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs896893376 CA276652080 |
565 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394169665 rs547491543 |
566 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809399 rs547491543 |
566 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394169670 rs1477836235 |
566 | T>S | No |
ClinGen TOPMed |
|
|
CA394169632 rs1208785076 |
569 | M>I | No |
ClinGen gnomAD |
|
|
rs1358568485 CA394169608 |
571 | T>I | No |
ClinGen TOPMed |
|
|
rs1358568485 CA394169612 |
571 | T>N | No |
ClinGen TOPMed |
|
|
CA394169605 rs1567256396 |
572 | L>V | No |
ClinGen Ensembl |
|
|
rs1478195852 CA394169578 |
573 | W>* | No |
ClinGen gnomAD |
|
|
CA394169563 rs1347836611 |
573 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1374794436 CA394169560 |
574 | E>K | No |
ClinGen gnomAD |
|
|
rs888162276 CA276652061 |
575 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs571233977 CA276652060 |
575 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1350936935 CA394169493 |
577 | L>F | No |
ClinGen TOPMed |
|
|
CA276652059 rs187036308 |
578 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs774278268 CA7809396 |
578 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276652058 rs937582230 |
579 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1202893146 CA394169438 |
580 | W>* | No |
ClinGen gnomAD |
|
|
rs866177970 CA276652056 |
581 | S>I | No |
ClinGen Ensembl |
|
|
rs532666257 CA276652057 |
581 | S>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394169310 rs1318009804 |
584 | G>V | No |
ClinGen gnomAD |
|
|
CA7809395 rs563664794 |
585 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394169305 rs1224862378 |
585 | P>T | No |
ClinGen gnomAD |
|
|
rs770544794 CA276652050 |
586 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7809393 rs200299810 |
586 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769618310 CA7809392 |
587 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781329175 CA7809390 |
588 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426495711 CA394169252 |
588 | P>S | No |
ClinGen TOPMed |
|
|
CA7809389 rs757354391 |
591 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1185598791 CA394169190 |
592 | W>* | No |
ClinGen gnomAD |
|
|
rs1032830407 CA276652031 |
592 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1377201435 CA394169136 |
594 | A>T | No |
ClinGen TOPMed |
|
|
rs980849763 CA276652025 |
594 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1352026988 CA394169110 |
595 | L>F | No |
ClinGen TOPMed |
|
|
CA394169042 rs1193543642 |
599 | V>G | No |
ClinGen gnomAD |
|
|
CA276652012 rs1029366329 |
599 | V>L | No |
ClinGen Ensembl |
|
|
rs541517548 CA7809387 |
600 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7809386 rs746911929 |
601 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993143622 CA276651990 |
601 | P>S | No |
ClinGen TOPMed |
|
|
rs1314775175 CA394169002 |
602 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs765670349 CA7809384 |
602 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394168983 rs1567256312 |
603 | V>A | No |
ClinGen Ensembl |
|
|
rs887975135 CA276651963 |
606 | K>R | No |
ClinGen Ensembl |
|
|
rs1338018649 CA394168900 |
607 | D>N | No |
ClinGen gnomAD |
|
|
rs1049201915 CA276651949 |
609 | A>V | No |
ClinGen gnomAD |
|
|
rs1391467583 CA394168807 |
610 | P>H | No |
ClinGen gnomAD |
|
|
rs1165708051 CA394168800 |
611 | G>S | No |
ClinGen gnomAD |
|
|
CA394168773 rs1422973233 |
612 | K>M | No |
ClinGen gnomAD |
|
|
rs1456275797 CA394168705 |
615 | P>L | No |
ClinGen TOPMed |
|
|
CA276651948 rs906119047 |
616 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1229371355 CA394168645 |
618 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs558900660 CA7809381 |
618 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1567256295 CA394168624 |
619 | W>L | No |
ClinGen Ensembl |
|
|
CA394168632 rs1179511825 |
619 | W>R | No |
ClinGen gnomAD |
|
|
CA394168585 rs1313813727 |
621 | V>G | No |
ClinGen TOPMed |
|
|
CA7809378 rs576390892 |
621 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276651905 rs1053234455 |
623 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1489704670 CA394168543 |
623 | Q>R | No |
ClinGen gnomAD |
|
|
rs763979150 CA7809377 |
624 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276651896 rs763979150 |
624 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7809376 rs556514121 |
624 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394168495 rs1353226815 |
625 | V>L | No |
ClinGen gnomAD |
|
|
rs1278307185 CA394168474 |
626 | R>K | No |
ClinGen gnomAD |
|
|
CA7809364 rs61744665 |
629 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61744665 CA394168410 |
629 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs918009766 CA276651751 |
629 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394168412 rs61744665 |
629 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383180061 CA394168403 |
630 | W>* | No |
ClinGen gnomAD |
|
|
CA394168377 rs1365759091 |
632 | A>T | No |
ClinGen TOPMed |
|
|
rs780846385 CA7809363 |
632 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394168364 rs1358130787 |
633 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1358130787 CA394168362 |
633 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs940705277 CA276651744 |
635 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1170509925 CA394168345 |
635 | I>V | No |
ClinGen gnomAD |
|
|
CA394168335 rs1416988897 |
636 | K>E | No |
ClinGen gnomAD |
|
|
CA394168288 rs1322244239 |
639 | A>S | No |
ClinGen TOPMed |
|
|
CA394168277 rs1392020313 |
640 | L>V | No |
ClinGen gnomAD |
|
|
CA394168269 rs983130362 |
641 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs565271689 CA7809360 |
641 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394168267 rs983130362 |
641 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7809359 rs545388073 |
642 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394168229 rs576528390 |
644 | G>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs576528390 CA276651688 |
644 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394168212 rs1272575853 |
645 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1305786938 CA394168218 |
645 | G>R | No |
ClinGen gnomAD |
|
|
CA394168210 rs1272575853 |
645 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1316873911 CA394168197 |
646 | V>A | No |
ClinGen gnomAD |
|
|
rs1316873911 CA394168194 |
646 | V>G | No |
ClinGen gnomAD |
|
|
CA7809358 rs369805573 |
646 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7809357 rs7192331 |
647 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394168182 rs7192331 |
647 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394168184 rs7192331 |
647 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394168141 rs1298642356 |
649 | K>N | No |
ClinGen gnomAD |
|
|
CA394168107 rs1352204889 |
652 | S>N | No |
ClinGen gnomAD |
|
|
rs61743495 CA7809353 |
653 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750721196 CA276651651 |
654 | E>Q | No |
ClinGen gnomAD |
|
|
CA276651613 rs1031233423 |
661 | P>L | No |
ClinGen TOPMed |
|
|
rs1285680473 CA394167943 |
661 | P>T | No |
ClinGen TOPMed |
|
|
rs557582088 CA7809349 |
665 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394167864 rs1567256090 |
666 | Q>E | No |
ClinGen Ensembl |
|
|
rs537418182 CA7809348 |
666 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
1 associated diseases with A6NI56
[MIM: 608443]: Intellectual developmental disorder, autosomal recessive 3 (MRT3)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for A6NI56
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A6NI56 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| bone mineralization involved in bone maturation | The deposition of hydroxyapatite, involved in the progression of the skeleton from its formation to its mature state. |
| bone resorption | The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. |
| odontogenesis of dentin-containing tooth | The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
| tooth eruption | The tooth development process in which the teeth enter the mouth and become visible. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSELADSGPS | GASAPSQLRA | VTLEDLGLLL | AGGLASPEPL | SLEELSERYE | SSHPTSTASV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEQDTAKHWN | QLEQWVVELQ | AEVACLREHK | QRCERATRSL | LRELLQVRAR | VQLQGSELRQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQQEARPAAQ | APEKEAPEFS | GLQNQMQALD | KRLVEVREAL | TRLRRRQVQQ | EAERRGAEQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AGLRLAKLTD | LLQQEEQGRE | VACGALQKNQ | EDSSRRVDLE | VARMQAQVTK | LGEEVSLRFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KREAKLCGFL | QKSFLALEKR | MKASESSRLK | LEGSLRGELE | SRWEKLRGLM | EERLRALQGQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HEESHLLEQC | QGLDAAVAQL | TKFVQQNQAS | LNRVLLAEEK | AWDAKGRLEE | SRAGELAAYV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QENLEAAQLA | GELARQEMHG | ELVLLREKSR | ALEASVAQLA | GQLKELSGHL | PALSSRLDLQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQMLGLRLSE | AKTEWEGAER | KSLEDLARWR | KEVTEHLRGV | REKVDGLPQQ | IESVSDKCLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HKSDSDLRIS | AEGKAREFKV | GALRQELATL | LSSVQLLKED | NPGRKIAEMQ | GKLATFQNQI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MKLENCVQAN | KTIQNLRFNT | EARLRTQEMA | TLWESVLRLW | SEEGPRTPLG | SWKALPSLVR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PRVFIKDMAP | GKVVPMNCWG | VYQAVRWLRW | KASLIKLRAL | RRPGGVLEKP | HSQEQVQQLT |
| PSLFIQK |