Q5T7N2
PR
Gene name |
L1TD1 (ECAT11) |
Protein name |
LINE-1 type transposase domain-containing protein 1 |
Names |
ES cell-associated protein 11 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54596 |
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
3 structures for Q5T7N2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2LR6 | NMR | - | A/B | 235-321 | PDB |
| 3SOO | X-ray | 273 A | A/B/C | 235-321 | PDB |
| AF-Q5T7N2-F1 | Predicted | AlphaFoldDB |
812 variants for Q5T7N2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM109734 rs146015306 CA883735 RCV002983234 |
534 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine skin Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA23691999 rs958252752 |
2 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA340591840 rs1473902649 |
2 | S>T | No |
ClinGen gnomAD |
|
|
CA340591850 rs1414768560 |
3 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 4 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422356047 CA340591863 |
5 | S>C | No |
ClinGen TOPMed |
|
|
CA23692004 rs556405182 |
6 | T>A | No |
ClinGen gnomAD |
|
|
CA340591869 rs1557444217 |
6 | T>I | No |
ClinGen Ensembl |
|
|
rs921985226 CA23692007 |
7 | S>T | No |
ClinGen TOPMed |
|
|
CA340591901 rs1313647877 |
11 | K>R | No |
ClinGen gnomAD |
|
|
CA340591908 rs1481010273 |
12 | F>Y | No |
ClinGen gnomAD |
|
|
CA340591918 rs1354902441 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA340591922 rs1028292503 |
14 | R>K | No |
ClinGen gnomAD |
|
|
rs1028292503 CA23692024 |
14 | R>T | No |
ClinGen gnomAD |
|
|
CA340591934 rs1290270402 |
16 | A>G | No |
ClinGen gnomAD |
|
|
rs867770441 CA23692026 |
16 | A>T | No |
ClinGen TOPMed |
|
|
CA340591935 rs1290270402 |
16 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1343763 rs1238241450 CA340591963 |
20 | E>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs756973770 CA883435 |
20 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA23692034 rs954170139 |
21 | N>D | No |
ClinGen gnomAD |
|
|
CA883437 rs143659287 |
22 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781058015 CA883436 |
22 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578088885 CA23692045 |
23 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340591983 rs1484418045 |
23 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1183773830 CA340591990 |
24 | Y>* | No |
ClinGen gnomAD |
|
|
rs909953071 CA23692052 |
26 | K>E | No |
ClinGen Ensembl |
|
|
rs7552335 CA883438 VAR_035377 |
27 | R>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1464060353 CA340592029 |
29 | Q>H | No |
ClinGen gnomAD |
|
|
rs780570529 CA883441 |
31 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1467839006 CA340592051 |
33 | T>A | No |
ClinGen gnomAD |
|
|
rs1375125238 CA340592059 |
34 | D>A | No |
ClinGen gnomAD |
|
|
rs1375125238 CA340592061 |
34 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340592073 rs563369835 |
36 | D>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA23692095 rs563369835 |
36 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs183946670 CA23692099 |
37 | I>T | No |
ClinGen 1000Genomes |
|
|
rs114926803 CA23692110 |
39 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768724581 CA883443 |
39 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114926803 CA883442 |
39 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761951393 CA883445 |
40 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761951393 CA340592095 |
40 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883446 rs772272788 |
42 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs916279353 CA23692179 |
46 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs946358546 CA340592143 |
47 | D>N | No |
ClinGen gnomAD |
|
|
CA23692188 rs946358546 |
47 | D>Y | No |
ClinGen gnomAD |
|
|
CA883449 rs764969897 |
48 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883450 rs564113180 |
49 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23692203 rs781764509 |
50 | A>T | No |
ClinGen gnomAD |
|
|
rs775850126 CA23692204 |
51 | I>M | No |
ClinGen Ensembl |
|
|
rs1394856549 COSM911298 COSM1687798 CA340592176 |
52 | M>I | endometrium skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1053219722 CA23692205 |
52 | M>T | No |
ClinGen Ensembl |
|
|
rs376485489 CA23692209 |
53 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1170659023 CA340592186 |
54 | K>Q | No |
ClinGen gnomAD |
|
|
rs1355192312 CA340592194 |
55 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA23692212 TCGA novel rs901319995 |
55 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs894187405 CA23692216 |
56 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA340592207 rs1217125072 COSM232657 |
56 | K>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs894187405 CA340592204 |
56 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340592219 rs1315672819 |
58 | L>F | No |
ClinGen TOPMed |
|
|
CA23692231 rs998421570 |
59 | M>L | No |
ClinGen Ensembl |
|
|
CA340592229 rs1296408623 |
60 | E>* | No |
ClinGen gnomAD |
|
|
CA340592236 rs1441505006 |
60 | E>D | No |
ClinGen gnomAD |
|
|
rs1392856880 CA340592233 |
60 | E>G | No |
ClinGen gnomAD |
|
|
CA883452 rs146949245 |
61 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA23692238 rs781323609 |
62 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781323609 CA883453 |
62 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 64 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299135068 CA340592268 |
65 | M>I | No |
ClinGen TOPMed |
|
|
CA883454 rs751109031 |
66 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340592294 rs1306442809 |
69 | M>L | No |
ClinGen gnomAD |
|
|
rs1266668702 CA340592310 |
71 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756884272 CA23692244 |
73 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1256209 CA883455 rs756884272 |
73 | L>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs368156819 CA23692246 |
76 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs143376274 CA883456 |
76 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1467368590 CA340592353 |
77 | L>P | No |
ClinGen gnomAD |
|
|
rs1420434564 CA340592365 |
79 | A>S | No |
ClinGen gnomAD |
|
|
rs780297928 CA883459 |
80 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs972787643 CA23692257 |
81 | L>S | No |
ClinGen gnomAD |
|
|
CA23692252 rs961759901 |
81 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1370263633 CA340592380 |
82 | G>R | No |
ClinGen gnomAD |
|
|
rs1164057836 CA340592388 |
83 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA883461 rs755438912 |
85 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340592405 COSM1343764 rs1392018704 |
86 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA883462 rs779456153 |
86 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883463 rs568542740 |
87 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772182965 CA883465 |
88 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA883468 rs747214283 |
92 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs916482514 CA23692292 |
93 | S>L | No |
ClinGen Ensembl |
|
|
rs1174606909 CA340592458 |
94 | E>G | No |
ClinGen TOPMed |
|
|
CA340592466 rs1333176909 |
95 | N>S | No |
ClinGen gnomAD |
|
|
rs1218446299 CA340592474 |
96 | S>C | No |
ClinGen gnomAD |
|
|
CA883470 rs201035870 |
97 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA883471 rs143803041 |
98 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143803041 CA23692300 |
98 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | R>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA883473 rs78504008 |
101 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340592504 rs1456202932 |
101 | E>K | No |
ClinGen TOPMed |
|
|
rs774479103 CA883474 |
103 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs550914152 CA883477 |
106 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA883476 rs761368466 |
106 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs867231375 CA340592544 |
107 | N>D | No |
ClinGen gnomAD |
|
|
CA23692317 rs867231375 |
107 | N>H | No |
ClinGen gnomAD |
|
|
CA883478 rs750036134 |
107 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340592552 rs755727292 |
108 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755727292 CA883479 |
108 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23692349 rs376310235 |
111 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA23692355 rs1031629613 |
111 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs146320917 CA883482 |
113 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs753466100 | 113 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755389267 CA883483 |
114 | G>R | No |
ClinGen ExAC |
|
|
rs1225968005 CA340592606 |
116 | V>A | No |
ClinGen gnomAD |
|
|
CA340592611 rs1330956137 |
117 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1375018438 CA340592608 |
117 | G>R | No |
ClinGen TOPMed |
|
|
rs935094387 CA23692359 |
118 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 122 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557444706 CA340592663 |
124 | S>C | No |
ClinGen Ensembl |
|
|
rs1557444706 CA340592661 |
124 | S>F | No |
ClinGen Ensembl |
|
|
rs1175032387 CA340592666 |
125 | K>E | No |
ClinGen TOPMed |
|
|
rs1213915915 CA340592676 |
126 | I>T | No |
ClinGen gnomAD |
|
|
rs1282684645 CA340592680 |
127 | G>C | No |
ClinGen gnomAD |
|
|
COSM373900 CA340592693 rs1379110920 |
129 | D>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1255447081 CA340592707 |
130 | N>K | No |
ClinGen gnomAD |
|
|
CA340592715 rs1182086811 COSM1212939 |
131 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 131 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs80040845 CA23692389 |
133 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340592728 rs1406988294 |
133 | L>S | No |
ClinGen gnomAD |
|
|
rs1177658263 CA340592726 |
133 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747185517 CA883490 |
136 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA340592775 rs1282354655 |
140 | N>Y | No |
ClinGen TOPMed |
|
|
CA23692420 rs113011676 |
141 | E>G | No |
ClinGen Ensembl |
|
|
CA340592791 rs1371853324 |
142 | L>P | No |
ClinGen gnomAD |
|
|
rs375975596 CA883493 |
143 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768611103 CA340592806 |
145 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768611103 CA883494 |
145 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761855273 CA883496 |
146 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883495 rs774383220 |
146 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1214812959 CA340592822 |
147 | D>G | No |
ClinGen Ensembl |
|
|
CA340592820 rs1288608678 |
147 | D>N | No |
ClinGen gnomAD |
|
|
CA340592829 COSM3419367 rs1337737887 |
148 | N>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1050043209 CA23692428 |
149 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771642989 CA883497 COSM1343766 |
151 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340592848 rs1439572745 |
151 | E>A | No |
ClinGen gnomAD |
|
|
rs771642989 CA23692441 |
151 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340592847 rs771642989 |
151 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205179905 CA340592855 |
152 | Y>H | No |
ClinGen gnomAD |
|
|
CA883498 rs772595112 |
153 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373993863 COSM1126967 CA883500 |
154 | S>R | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1158629589 CA340592876 |
155 | N>D | No |
ClinGen TOPMed |
|
|
rs765928286 CA883502 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs765928286 CA883501 |
155 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA883503 COSM911302 rs367875859 |
158 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1421031051 CA340592920 |
161 | P>H | No |
ClinGen gnomAD |
|
|
rs1421031051 CA340592921 |
161 | P>R | No |
ClinGen gnomAD |
|
|
CA340592918 rs1171296564 |
161 | P>S | No |
ClinGen gnomAD |
|
|
CA340592917 rs1171296564 |
161 | P>T | No |
ClinGen gnomAD |
|
|
CA23692521 rs897132195 |
162 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 164 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753140623 CA883505 |
166 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758908225 CA883506 |
166 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235038506 CA340592955 |
167 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA523751616 rs1328421970 |
168 | Y>* | No |
ClinGen gnomAD |
|
|
CA883509 rs751577233 |
169 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23692561 rs930546299 |
169 | E>G | No |
ClinGen TOPMed |
|
|
rs751577233 COSM275805 CA883510 |
169 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA883513 rs114046619 |
171 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA883512 rs746116556 |
171 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA883514 rs534598539 |
172 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1486828744 CA340592992 |
173 | S>R | No |
ClinGen gnomAD |
|
|
CA340593007 rs1215473333 |
174 | M>I | No |
ClinGen gnomAD |
|
|
CA340593004 rs1356511816 |
174 | M>T | No |
ClinGen TOPMed |
|
|
CA340593009 rs1189390573 |
175 | E>K | No |
ClinGen gnomAD |
|
|
rs1570928876 CA340593035 |
178 | L>F | No |
ClinGen Ensembl |
|
|
rs923630417 CA23692608 |
178 | L>I | No |
ClinGen gnomAD |
|
|
CA883515 rs553198309 |
178 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1454338875 CA340593037 |
179 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340593045 rs1570928888 |
180 | N>D | No |
ClinGen Ensembl |
|
|
rs1174933739 CA340593047 |
180 | N>T | No |
ClinGen gnomAD |
|
|
rs574667331 CA883516 |
181 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1243440233 CA340593063 |
182 | D>V | No |
ClinGen gnomAD |
|
|
CA883517 rs773253339 |
183 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 183 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 184 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 184 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166846204 CA340593075 |
184 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs760076775 CA883518 |
186 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA883520 rs541962027 |
188 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA23692663 rs375545502 |
188 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA883521 rs375545502 |
188 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 190 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs975842853 CA23692680 |
191 | H>R | No |
ClinGen gnomAD |
|
|
rs1477491822 CA340593136 |
193 | E>G | No |
ClinGen TOPMed |
|
|
CA340593153 rs1242612493 |
195 | T>I | No |
ClinGen TOPMed |
|
|
rs1337463430 CA340593159 |
196 | E>A | No |
ClinGen gnomAD |
|
|
CA883525 rs142530179 |
197 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557444988 CA340593166 |
197 | R>S | No |
ClinGen Ensembl |
|
|
CA340593173 rs1213318698 |
198 | E>A | No |
ClinGen TOPMed |
|
|
CA340593178 rs1335710912 |
199 | S>C | No |
ClinGen TOPMed |
|
|
CA340593179 rs1333916613 |
199 | S>N | No |
ClinGen gnomAD |
|
|
CA340593184 rs1286046017 |
200 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192005185 CA340593213 |
204 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340593225 rs1239868707 |
205 | D>G | No |
ClinGen gnomAD |
|
|
rs764484228 CA883527 |
208 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883528 rs752146763 |
208 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs764484228 CA340593245 |
208 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23692703 rs1029214873 |
209 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1461351088 CA340593256 |
210 | E>K | No |
ClinGen gnomAD |
|
|
CA340593271 rs1387578953 |
211 | M>I | No |
ClinGen gnomAD |
|
|
rs953357294 CA23692704 |
212 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340593295 rs1317815054 |
215 | R>G | No |
ClinGen gnomAD |
|
|
rs1168338647 CA340593304 |
216 | K>T | No |
ClinGen TOPMed |
|
|
rs376696906 CA340593309 |
217 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781346492 CA883530 |
217 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs376696906 CA883529 |
217 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs911368821 CA23692709 |
220 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340593339 rs1351840633 |
221 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA340593338 rs1351840633 |
221 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 221 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340593350 rs1284769954 |
222 | N>K | No |
ClinGen gnomAD |
|
|
CA23692713 rs528121289 |
222 | N>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs750607821 CA340593363 |
224 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750607821 CA883532 |
224 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281640889 CA340593373 |
225 | E>D | No |
ClinGen gnomAD |
|
|
CA883533 rs186639207 |
226 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA23692725 rs920423828 |
227 | L>* | No |
ClinGen TOPMed |
|
|
CA883534 rs780483553 |
228 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1219031919 CA340593397 |
229 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs951889915 CA23692726 |
229 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs951889915 CA340593393 |
229 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA23692727 rs991373861 |
232 | E>G | No |
ClinGen TOPMed |
|
|
CA23692735 rs915846922 |
235 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA340593444 rs1470692469 |
236 | L>F | No |
ClinGen gnomAD |
|
|
CA340593439 rs1365916269 |
236 | L>M | No |
ClinGen gnomAD |
|
|
CA883536 rs771944867 |
237 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340593456 rs1234339174 |
238 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340593477 rs1436784130 |
241 | A>P | No |
ClinGen gnomAD |
|
|
CA340593476 rs1436784130 |
241 | A>T | No |
ClinGen gnomAD |
|
|
CA23692760 rs949658112 |
242 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA23692765 rs1045408153 |
243 | L>V | No |
ClinGen TOPMed |
|
|
rs746993203 CA883539 |
244 | T>A | No |
ClinGen ExAC |
|
|
CA340593494 rs1354913770 |
244 | T>N | No |
ClinGen TOPMed |
|
|
CA883540 VAR_035378 rs7542665 |
246 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1330623793 CA340593502 |
246 | V>I | No |
ClinGen TOPMed |
|
|
CA340593520 rs1336153528 |
248 | D>E | No |
ClinGen gnomAD |
|
|
rs1158773471 CA340593515 |
248 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1054636279 CA23692768 |
249 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA340593523 rs1306770392 |
249 | L>H | No |
ClinGen gnomAD |
|
|
CA340593529 rs1349691508 |
250 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA340593531 rs1349691508 |
250 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340593540 rs1234559283 |
252 | A>S | No |
ClinGen gnomAD |
|
|
CA340593542 rs1279012127 |
252 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340593546 rs1163072648 |
253 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340593559 rs1349430274 |
255 | D>G | No |
ClinGen TOPMed |
|
|
rs1181585878 CA340593590 |
259 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340593600 rs1455790160 |
260 | W>* | No |
ClinGen gnomAD |
|
|
rs1281111843 CA340593596 |
260 | W>G | No |
ClinGen TOPMed |
|
|
rs1174432434 CA340593605 |
261 | S>C | No |
ClinGen gnomAD |
|
|
rs1328050087 CA340593607 |
261 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1374571011 CA340593611 |
262 | N>H | No |
ClinGen TOPMed |
|
|
rs1394559149 CA340593619 |
263 | V>I | No |
ClinGen gnomAD |
|
|
rs775170570 CA883544 |
265 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340593649 rs1377368730 |
267 | L>R | No |
ClinGen TOPMed |
|
|
rs190177858 CA340593648 |
267 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA340593655 rs1390749282 |
268 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763271518 CA883545 |
272 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA340593693 rs1441823878 |
273 | E>A | No |
ClinGen gnomAD |
|
|
CA340593696 rs1372839932 |
273 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 275 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM464841 CA883546 rs139493385 |
276 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778256689 CA23692797 |
278 | C>* | No |
ClinGen Ensembl |
|
|
CA340593727 rs1570929289 |
278 | C>Y | No |
ClinGen Ensembl |
|
|
rs1229034228 CA340593732 |
279 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1340766493 CA340593740 |
280 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA23692819 rs1018946511 |
283 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340593791 rs1285941320 |
287 | D>A | No |
ClinGen TOPMed |
|
|
CA883551 rs181629629 |
287 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA883550 rs181629629 |
287 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340593799 rs1252662779 |
288 | G>D | No |
ClinGen gnomAD |
|
|
CA340593801 rs1252662779 |
288 | G>V | No |
ClinGen gnomAD |
|
|
CA340593816 rs1172707598 |
290 | I>M | No |
ClinGen gnomAD |
|
|
CA340593826 rs1293618530 |
292 | T>A | No |
ClinGen TOPMed |
|
|
CA340593853 rs1461435389 |
296 | L>M | No |
ClinGen gnomAD |
|
|
rs766680555 CA883552 |
296 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs114311533 CA883553 |
298 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1030872664 CA23692872 |
299 | L>R | No |
ClinGen Ensembl |
|
|
rs1181816784 CA340593873 |
299 | L>V | No |
ClinGen gnomAD |
|
|
CA340593879 rs1383552278 |
300 | R>K | No |
ClinGen gnomAD |
|
|
rs1028168822 CA23692877 |
302 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1295744866 CA340593895 |
302 | F>Y | No |
ClinGen gnomAD |
|
|
CA340593939 rs1256670999 |
308 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1256670999 CA340593938 |
308 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1256670999 CA340593940 |
308 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA883555 rs7533274 VAR_035379 |
309 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1180526146 CA340593955 |
311 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs535425231 CA23692903 |
312 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA883556 rs557191896 |
313 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340593986 rs1262526741 |
315 | D>E | No |
ClinGen gnomAD |
|
|
CA883557 rs532291407 |
315 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23692946 rs975726539 |
318 | P>A | No |
ClinGen gnomAD |
|
|
rs1485925579 CA340594003 |
318 | P>L | No |
ClinGen TOPMed |
|
|
CA340594000 rs975726539 |
318 | P>S | No |
ClinGen gnomAD |
|
|
CA23692948 rs774567889 |
319 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA340594032 rs1461863671 |
322 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1167716035 CA340594040 |
323 | I>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 324 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340594047 rs1164032935 |
324 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340594056 rs1455035816 |
325 | Q>H | No |
ClinGen gnomAD |
|
|
rs1347888136 CA340594050 |
325 | Q>K | No |
ClinGen gnomAD |
|
|
CA23692956 rs754562569 |
326 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs953264905 CA23692965 |
327 | G>E | No |
ClinGen gnomAD |
|
|
CA883560 rs2457828 VAR_035380 |
329 | K>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA23692994 rs941522486 |
330 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs372778429 CA883561 |
330 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357988119 CA340594091 |
331 | G>E | No |
ClinGen gnomAD |
|
|
rs1294562639 CA340594088 |
331 | G>R | No |
ClinGen gnomAD |
|
|
rs1039067635 CA23692996 |
332 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1557445543 CA340594100 |
333 | Q>K | No |
ClinGen Ensembl |
|
|
CA23693010 rs539527228 |
333 | Q>P | No |
ClinGen 1000Genomes |
|
|
CA340594107 rs1218255371 |
334 | E>K | No |
ClinGen gnomAD |
|
|
rs918837213 CA23693018 |
336 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340594147 rs1437450747 |
337 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557446770 CA340594165 |
340 | L>V | No |
ClinGen Ensembl |
|
|
rs532245906 CA883592 |
342 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA883591 rs755571024 |
342 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA883590 rs755571024 |
342 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225565569 CA340594197 |
345 | H>P | No |
ClinGen TOPMed |
|
|
CA340594198 rs1225565569 |
345 | H>R | No |
ClinGen TOPMed |
|
|
CA883594 rs547070165 |
345 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1453645504 CA340594202 |
346 | R>G | No |
ClinGen TOPMed |
|
|
rs1444982021 CA340594214 |
347 | A>V | No |
ClinGen gnomAD |
|
|
CA340594221 rs1376222273 |
349 | E>K | No |
ClinGen gnomAD |
|
|
rs748517327 CA883597 |
350 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340594245 rs772599708 |
352 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883599 rs772599708 |
352 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773810697 CA883600 |
354 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883602 rs771064080 |
356 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142671571 CA883606 |
365 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752900303 CA883607 |
366 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421005335 CA340594371 |
370 | E>D | No |
ClinGen gnomAD |
|
|
CA340594375 rs1232849270 |
371 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs367791382 CA883608 |
371 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340594382 rs1171925129 |
372 | K>E | No |
ClinGen gnomAD |
|
|
rs913643301 CA23694650 |
372 | K>R | No |
ClinGen TOPMed |
|
|
CA883610 rs750302751 |
375 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883613 rs753368726 |
380 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754489320 CA883614 |
381 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 382 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537614666 CA23694697 |
383 | E>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA883617 rs778590430 COSM1687802 |
383 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA23694730 rs577257522 |
387 | L>Q | No |
ClinGen 1000Genomes |
|
|
CA23694735 COSM535735 CA883623 rs535166958 |
388 | D>E | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs530740871 CA883622 |
388 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883625 rs771548498 |
389 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1348833398 CA340594505 |
390 | E>K | No |
ClinGen TOPMed |
|
|
CA340594513 rs1163640848 |
391 | A>D | No |
ClinGen TOPMed |
|
|
CA340594514 rs1163640848 |
391 | A>G | No |
ClinGen TOPMed |
|
|
CA883626 rs777050327 |
391 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199792523 CA883628 |
392 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA883632 rs1194503970 |
394 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs139676240 CA883635 |
396 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1477109724 CA340594543 |
396 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs145595018 CA883636 |
397 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189473888 CA340594552 |
397 | D>Y | No |
ClinGen TOPMed |
|
|
CA340594563 CA883637 rs370736919 |
398 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA23694838 rs867660480 |
399 | D>E | No |
ClinGen Ensembl |
|
|
rs1557447009 CA340594572 |
400 | T>A | No |
ClinGen Ensembl |
|
|
CA340594574 rs1321784905 |
400 | T>I | No |
ClinGen gnomAD |
|
|
CA340594577 rs1431640170 |
401 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235044808 CA340594589 |
403 | L>M | No |
ClinGen gnomAD |
|
|
CA340594617 rs200931139 |
406 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1207732370 CA340594610 |
406 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201629799 CA23694910 |
407 | E>D | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 407 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340594618 rs777622889 |
407 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777622889 CA883647 |
407 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200789118 CA883651 |
409 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs386631745 CA23694924 |
409 | E>DT | No |
ClinGen Ensembl |
|
|
rs757733831 CA883650 |
409 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs141196718 CA340594638 |
410 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA23694936 rs141196718 |
410 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA23694933 rs141196718 |
410 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1002090167 CA23694943 |
411 | S>* | No |
ClinGen TOPMed |
|
| TCGA novel | 413 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541871254 CA23694960 |
416 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340594681 rs1297718922 |
417 | E>K | No |
ClinGen gnomAD |
|
|
CA340594704 rs143064655 |
419 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA23694987 rs749427979 |
420 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150755079 CA883658 |
421 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1339677066 CA340594716 |
421 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760420644 CA883660 |
422 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340594723 rs1238900298 |
423 | G>E | No |
ClinGen gnomAD |
|
|
CA883662 CA883661 rs766106791 |
423 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA340594727 rs564782024 |
424 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs759392270 CA883663 |
426 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369420429 CA883664 |
426 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340594751 rs1300672571 |
427 | D>E | No |
ClinGen TOPMed |
|
|
rs868558605 CA23696782 |
427 | D>N | No |
ClinGen Ensembl |
|
|
CA883665 rs752245781 |
427 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs139015504 CA883666 |
428 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340594761 rs763810599 |
429 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883667 rs763810599 |
429 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471550510 CA340594763 |
429 | A>V | No |
ClinGen TOPMed |
|
|
rs1440561123 CA340594773 |
431 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM124053 rs553987942 CA883670 |
433 | E>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340594785 rs1252928691 |
433 | E>V | No |
ClinGen TOPMed |
|
|
CA883671 rs145782724 |
434 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1303477729 CA340594821 |
438 | Q>E | No |
ClinGen gnomAD |
|
|
CA340594824 rs1264141153 |
438 | Q>R | No |
ClinGen TOPMed |
|
|
CA340594832 rs1349654314 |
439 | T>S | No |
ClinGen gnomAD |
|
|
CA340594838 rs1330653987 |
440 | S>* | No |
ClinGen gnomAD |
|
|
CA883673 rs756574486 |
441 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340594862 rs373499320 |
443 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336949666 CA340594855 |
443 | D>Y | No |
ClinGen TOPMed |
|
|
rs1233393089 CA340594863 |
444 | S>T | No |
ClinGen gnomAD |
|
|
CA883676 rs768752688 |
447 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1199182528 CA340594892 |
448 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1199182528 CA340594890 |
448 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA883678 rs748380773 |
449 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542429784 CA883680 |
451 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883682 rs765066852 |
453 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA340594931 rs775612122 |
454 | A>E | No |
ClinGen ExAC TOPMed |
|
|
CA883685 rs775612122 |
454 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA883684 rs775612122 |
454 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs547499700 CA340594941 |
456 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1004284742 CA23696860 |
456 | H>Q | No |
ClinGen TOPMed |
|
|
CA883686 rs547499700 |
456 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340594947 rs1464487951 |
457 | E>Q | No |
ClinGen gnomAD |
|
|
CA340594958 rs1169537756 |
458 | V>A | No |
ClinGen gnomAD |
|
|
rs28611445 CA883688 |
462 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372814159 CA340594999 |
464 | G>D | No |
ClinGen gnomAD |
|
|
CA883689 rs761378158 |
465 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA883690 rs149619557 |
470 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352292568 CA340595056 |
472 | S>C | No |
ClinGen TOPMed |
|
|
rs1256553991 CA340595082 |
476 | S>A | No |
ClinGen gnomAD |
|
|
CA340595083 rs1243672463 |
476 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA883697 rs754363697 |
479 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA23696919 rs748924389 |
480 | E>D | No |
ClinGen TOPMed |
|
|
rs373045440 CA883698 |
480 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2481694 CA340595125 |
482 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772166958 CA883702 |
482 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748290849 CA883701 |
482 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340595129 rs1161516175 |
483 | E>* | No |
ClinGen TOPMed |
|
|
CA883704 rs115974655 |
483 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386631746 CA23696945 |
483 | E>G | No |
ClinGen Ensembl |
|
|
CA23696974 rs769664703 |
486 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883705 rs769664703 |
486 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23696987 rs979128102 |
487 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs979128102 CA23696991 |
487 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1383461786 CA340595158 |
488 | E>K | No |
ClinGen gnomAD |
|
|
rs775522147 CA883706 |
490 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218548405 CA340595179 |
491 | K>E | No |
ClinGen gnomAD |
|
|
rs957502266 CA23696996 |
491 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1449212708 CA340595196 |
493 | K>N | No |
ClinGen TOPMed |
|
|
CA340595199 rs1323839412 |
494 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1222616370 CA340595205 |
495 | T>A | No |
ClinGen gnomAD |
|
|
rs867031277 CA23697013 |
496 | S>F | No |
ClinGen Ensembl |
|
|
CA883709 rs376622885 |
499 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340595235 rs1263985685 |
500 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs114677020 CA883711 |
500 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868407564 CA23697066 |
502 | A>T | No |
ClinGen gnomAD |
|
|
rs183616731 CA883712 |
502 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139433745 CA883713 |
504 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139433745 CA883714 |
504 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1343772 rs534791481 CA883715 |
504 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754273790 CA340595269 |
506 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
rs754273790 CA883716 |
506 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA340595271 rs1366393767 |
506 | Q>R | No |
ClinGen gnomAD |
|
|
rs755469318 CA883718 |
509 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs752701856 CA883720 |
510 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA23697090 rs758340686 |
513 | Y>C | No |
ClinGen Ensembl |
|
|
rs1038421322 CA23697113 |
515 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA883724 rs769656191 |
518 | S>F | No |
ClinGen ExAC |
|
|
CA340595369 COSM911312 rs1376434913 |
520 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs780000762 CA883725 |
521 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749163669 CA883726 |
523 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1353022157 CA340595386 |
523 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 526 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA883727 rs768701101 |
526 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774469266 CA883728 |
527 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883729 rs761188087 |
527 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA883730 rs771632229 |
528 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA883731 rs772680907 |
529 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA883732 rs140820308 |
530 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340595438 rs1197373947 |
531 | K>R | No |
ClinGen TOPMed |
|
|
CA883734 rs776963727 |
533 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1570932305 CA340595452 |
533 | Q>P | No |
ClinGen Ensembl |
|
|
CA340595461 rs1282577954 |
534 | E>D | No |
ClinGen TOPMed |
|
|
rs765706497 CA883736 |
535 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373523026 CA23697174 |
536 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA883737 rs193034717 |
536 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764250405 CA883739 |
539 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883740 rs190573555 |
539 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757549990 CA883741 |
540 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781622703 CA883742 |
542 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340595511 rs1209266262 |
543 | S>G | No |
ClinGen gnomAD |
|
|
rs749070660 CA883743 |
543 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 543 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340595518 rs1570932355 |
544 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 545 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 545 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340595532 rs1178999200 |
546 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340595536 rs1237235336 |
546 | T>I | No |
ClinGen gnomAD |
|
|
CA340595540 rs1400493751 |
547 | G>D | No |
ClinGen TOPMed |
|
|
rs754851639 CA883744 |
548 | T>I | No |
ClinGen ExAC gnomAD |
|
|
VAR_035381 rs11207933 CA883745 |
549 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA340595557 rs1291009579 |
550 | C>S | No |
ClinGen Ensembl |
|
|
rs771414993 CA883747 |
552 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA340595570 rs1175932377 |
552 | T>I | No |
ClinGen gnomAD |
|
|
rs1467554140 CA340595577 |
553 | L>F | No |
ClinGen gnomAD |
|
|
CA883749 rs772772111 |
554 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883750 rs746554359 |
556 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776310502 CA883752 |
558 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1032003600 CA23697276 |
558 | P>S | No |
ClinGen TOPMed |
|
|
CA883756 rs763522788 |
559 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs775805713 CA883755 |
559 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340595608 rs775805713 |
559 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751646211 CA883758 |
560 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340595622 rs1257178921 |
561 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757463322 CA883759 |
561 | S>T | No |
ClinGen ExAC |
|
|
rs750695998 CA883761 |
563 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA340595629 rs1266119956 |
563 | E>Q | No |
ClinGen TOPMed |
|
|
CA883762 rs754759991 |
565 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570932469 CA340595660 |
567 | D>H | No |
ClinGen Ensembl |
|
|
rs747956601 CA883764 |
569 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA883766 rs777615995 |
572 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770463644 CA883768 |
574 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340595713 rs1408433031 |
574 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776220924 CA883769 |
575 | T>I | No |
ClinGen ExAC |
|
|
rs1165585106 CA340595735 |
577 | L>W | No |
ClinGen gnomAD |
|
|
rs775919925 CA883772 |
580 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435899608 CA340595754 |
580 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA23697362 rs746559652 |
581 | T>A | No |
ClinGen gnomAD |
|
|
rs147208373 CA883773 |
581 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769184330 CA883774 |
583 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1460054255 CA340595773 |
584 | T>A | No |
ClinGen gnomAD |
|
|
rs377660865 CA23697370 |
585 | K>R | No |
ClinGen ESP |
|
|
CA883775 rs150779448 |
587 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340595802 rs1242353356 |
588 | K>R | No |
ClinGen TOPMed |
|
|
CA883777 rs761934726 |
589 | T>I | No |
ClinGen ExAC |
|
|
rs955577840 CA23697399 |
590 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340595821 rs1264686924 |
591 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340595845 rs1316477199 |
594 | H>Y | No |
ClinGen TOPMed |
|
|
CA340595851 rs1309690653 |
595 | R>G | No |
ClinGen gnomAD |
|
|
rs760973536 CA883781 |
595 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225731651 CA340595862 |
596 | T>I | No |
ClinGen TOPMed |
|
|
CA883784 rs752512393 |
598 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340595873 rs1314584762 |
598 | H>R | No |
ClinGen TOPMed |
|
|
CA340595886 rs1287695558 |
600 | E>A | No |
ClinGen TOPMed |
|
|
RCV000966279 rs202029696 |
602 | L>missing | No |
ClinVar dbSNP |
|
|
rs1400573724 CA340595904 |
603 | T>I | No |
ClinGen gnomAD |
|
|
CA23697428 rs939968607 |
603 | T>P | No |
ClinGen TOPMed |
|
|
rs1338312178 CA340595911 |
604 | S>C | No |
ClinGen gnomAD |
|
|
CA23697429 rs569988115 |
607 | A>S | No |
ClinGen Ensembl |
|
|
CA340595937 rs1449997956 |
608 | D>G | No |
ClinGen gnomAD |
|
|
rs1355274819 CA340595948 |
609 | L>F | No |
ClinGen gnomAD |
|
|
rs1226200171 CA340595949 |
610 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs751524660 CA883789 |
611 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1218014915 CA340595962 |
612 | E>K | No |
ClinGen gnomAD |
|
|
rs2886644 VAR_035382 CA883790 |
613 | T>I | No |
ClinGen UniProt 1000Genomes ESP TOPMed dbSNP |
|
|
rs745450964 CA883795 |
614 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883794 rs370890823 |
614 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370890823 CA883793 |
614 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340595996 rs1218081064 |
617 | L>M | No |
ClinGen TOPMed |
|
|
CA883796 rs769476610 |
619 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23697478 rs896285167 |
620 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340596020 rs896285167 |
620 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340596039 rs1382274421 |
623 | N>Y | No |
ClinGen gnomAD |
|
|
rs1420441876 CA340596053 |
625 | I>L | No |
ClinGen gnomAD |
|
|
CA883800 rs749635272 |
625 | I>M | No |
ClinGen ExAC |
|
|
rs1420441876 CA340596054 |
625 | I>V | No |
ClinGen gnomAD |
|
|
CA340596059 rs1248077176 |
626 | R>G | No |
ClinGen Ensembl |
|
|
rs1382788138 CA340596070 |
627 | E>G | No |
ClinGen gnomAD |
|
|
rs140755361 CA883801 |
628 | I>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1255604008 CA340596092 |
630 | E>G | No |
ClinGen gnomAD |
|
|
CA340596089 rs1557448083 |
630 | E>Q | No |
ClinGen Ensembl |
|
|
COSM911315 rs1402569714 CA340596099 |
631 | E>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA883805 rs774941220 |
632 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377478013 CA883806 |
634 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772771600 CA883808 |
637 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1349176485 CA340596153 |
639 | H>Y | No |
ClinGen gnomAD |
|
|
CA340596164 rs1202629539 |
640 | S>* | No |
ClinGen gnomAD |
|
|
CA340596168 rs1279817269 |
641 | G>D | No |
ClinGen gnomAD |
|
|
CA340596170 rs1279817269 |
641 | G>V | No |
ClinGen gnomAD |
|
|
rs773410172 CA883809 |
642 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773410172 CA23697528 |
642 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340596178 rs1240300838 |
643 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA883811 rs766588112 |
645 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA340596195 rs1440551714 |
645 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1440551714 CA340596194 |
645 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1428851444 CA340596200 |
646 | E>G | No |
ClinGen TOPMed |
|
|
rs1428851444 CA340596201 |
646 | E>V | No |
ClinGen TOPMed |
|
|
rs1467527733 CA340596221 |
649 | V>A | No |
ClinGen gnomAD |
|
|
rs571071314 CA883812 |
649 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340596219 rs571071314 |
649 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340596228 rs1173050621 |
650 | D>A | No |
ClinGen gnomAD |
|
|
rs1031951649 CA23697554 |
651 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1557448162 CA340596234 |
651 | D>V | No |
ClinGen Ensembl |
|
|
rs1468083551 CA340596239 |
652 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA23697564 rs996298120 |
654 | S>R | No |
ClinGen TOPMed |
|
|
rs762763244 CA340596267 |
656 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340596265 rs1030102894 CA23697573 |
656 | M>L | No |
ClinGen TOPMed |
|
|
rs762763244 CA883813 |
656 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340596276 rs1332276766 |
657 | D>G | No |
ClinGen gnomAD |
|
|
CA340596288 rs866849348 |
659 | L>F | No |
ClinGen gnomAD |
|
|
CA23697590 rs866849348 |
659 | L>I | No |
ClinGen gnomAD |
|
|
rs1276008794 CA340596291 |
659 | L>P | No |
ClinGen gnomAD |
|
|
CA883814 rs763813062 |
660 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1202251468 CA340596299 |
661 | E>K | No |
ClinGen gnomAD |
|
|
CA340596309 rs1458397697 COSM911317 |
662 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs751434685 CA883815 |
663 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA340596315 rs1557448240 |
663 | I>V | No |
ClinGen Ensembl |
|
|
CA883816 rs528655805 |
664 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs986976636 CA23697628 |
665 | S>R | No |
ClinGen TOPMed |
|
|
rs1222214184 CA340596340 |
667 | E>Q | No |
ClinGen TOPMed |
|
|
CA883817 rs781166127 |
668 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA340596356 rs1377040886 |
669 | Q>* | No |
ClinGen gnomAD |
|
|
CA340596354 rs1377040886 |
669 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340596364 rs1479407891 |
670 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 672 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340596390 rs1426641441 |
673 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1172571060 COSM911319 CA340596391 |
673 | F>L | Variant assessed as Somatic; 0.0001958 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA340596398 rs1423987223 |
674 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs749914250 CA883818 |
675 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386881097 CA340596426 |
678 | M>I | No |
ClinGen gnomAD |
|
|
CA883819 rs755620644 |
678 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23697656 rs919912915 |
679 | Q>H | No |
ClinGen TOPMed |
|
|
rs1345506864 CA340596451 |
682 | K>E | No |
ClinGen gnomAD |
|
|
CA340596454 rs1310709088 |
682 | K>R | No |
ClinGen TOPMed gnomAD |
|
| rs1222162331 | 683 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340596467 rs1280498100 |
684 | I>V | No |
ClinGen gnomAD |
|
|
CA883820 rs779718860 |
686 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA340596501 rs1176820135 |
688 | E>D | No |
ClinGen TOPMed |
|
|
rs1489570866 CA340596512 |
690 | Q>* | No |
ClinGen gnomAD |
|
|
CA340596514 rs1481200734 |
690 | Q>R | No |
ClinGen TOPMed |
|
|
CA23697663 rs938039434 |
693 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM911320 CA23697672 rs546879656 |
694 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs546879656 CA340596539 |
694 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA340596556 rs1195700337 COSM911321 |
696 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1424097629 CA340596568 |
698 | R>* | No |
ClinGen gnomAD |
|
|
CA340596585 rs1391609364 |
700 | C>Y | No |
ClinGen TOPMed |
|
|
rs1313813156 CA340596597 |
701 | N>K | No |
ClinGen gnomAD |
|
|
CA883824 rs568498567 |
703 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768998315 CA883825 |
703 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA23697681 rs568498567 |
703 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1334426756 CA340596609 |
704 | L>V | No |
ClinGen TOPMed |
|
|
CA340596621 rs1369900889 |
705 | I>M | No |
ClinGen gnomAD |
|
|
rs1403674570 CA340596650 |
710 | K>E | No |
ClinGen gnomAD |
|
|
rs1300534895 CA340596662 |
711 | E>A | No |
ClinGen gnomAD |
|
|
rs749524579 CA23697713 |
711 | E>D | No |
ClinGen Ensembl |
|
|
CA883827 rs771259457 |
712 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340596676 rs1292482941 |
713 | Y>F | No |
ClinGen Ensembl |
|
|
rs1308169779 CA340596690 |
715 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 716 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773892877 CA883829 |
716 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1291169698 CA340596706 |
717 | A>V | No |
ClinGen gnomAD |
|
|
rs1258111175 CA340596717 |
719 | D>N | No |
ClinGen Ensembl |
|
|
rs66958136 CA23697716 |
722 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340596748 rs1263861164 |
723 | E>G | No |
ClinGen gnomAD |
|
|
rs746378126 CA883831 |
724 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA23697732 rs1053641988 |
725 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA23697733 rs900145445 |
727 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340596783 rs1557448474 |
728 | N>S | No |
ClinGen Ensembl |
|
|
rs1382880904 CA340596797 |
730 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1382880904 CA340596795 |
730 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340596801 rs1557448496 |
731 | E>K | No |
ClinGen Ensembl |
|
|
rs995861742 CA23697735 |
734 | K>T | No |
ClinGen TOPMed |
|
|
CA340596832 rs1185845112 |
735 | G>A | No |
ClinGen gnomAD |
|
|
CA340596830 rs759684328 |
735 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA883833 rs759684328 |
735 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA23697745 rs112463438 |
738 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs181507001 CA883834 |
738 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340596874 rs1244985461 |
742 | S>G | No |
ClinGen TOPMed |
|
|
rs1380813649 CA340596886 |
743 | A>V | No |
ClinGen gnomAD |
|
|
rs890204634 COSM1212938 CA23697754 |
745 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs890204634 CA340596895 |
745 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1004675385 CA23697764 |
745 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340596898 rs1015753153 |
746 | V>I | No |
ClinGen TOPMed |
|
|
rs1015753153 CA23697781 |
746 | V>L | No |
ClinGen TOPMed |
|
|
rs143392275 CA883835 |
748 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340596911 rs1174734212 |
748 | S>N | No |
ClinGen gnomAD |
|
|
rs1570933175 CA340596925 |
750 | I>F | No |
ClinGen Ensembl |
|
|
rs1288387737 CA340596928 |
750 | I>T | No |
ClinGen TOPMed |
|
|
rs1213480845 CA340596939 |
752 | E>K | No |
ClinGen gnomAD |
|
|
rs995729929 CA23697787 |
754 | R>G | No |
ClinGen TOPMed |
|
|
rs1386246829 CA340596964 |
755 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 756 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240935227 CA340596971 |
756 | T>S | No |
ClinGen gnomAD |
|
|
rs1178776506 CA340596972 |
757 | P>T | No |
ClinGen gnomAD |
|
|
CA340596978 rs1570933221 |
758 | R>G | No |
ClinGen Ensembl |
|
|
CA340596980 rs1288805902 |
758 | R>K | No |
ClinGen gnomAD |
|
|
CA340596981 rs1288805902 |
758 | R>T | No |
ClinGen gnomAD |
|
|
rs1379083253 CA340596989 |
759 | H>R | No |
ClinGen gnomAD |
|
|
CA340596998 rs1157491913 |
760 | I>M | No |
ClinGen gnomAD |
|
|
rs558783861 CA883838 |
760 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765810380 CA883840 |
761 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1301313956 CA340597005 |
762 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 763 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488948633 CA340597024 |
764 | F>C | No |
ClinGen TOPMed |
|
|
rs1404252911 CA340597030 |
765 | W>* | No |
ClinGen gnomAD |
|
|
CA23697826 rs541174429 |
766 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 767 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221269468 CA340597050 |
768 | S>G | No |
ClinGen TOPMed |
|
|
CA340597053 rs1310090335 |
768 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 770 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340597074 rs1325816356 |
771 | E>Q | No |
ClinGen TOPMed |
|
|
rs1557448672 CA340597082 |
772 | K>E | No |
ClinGen Ensembl |
|
|
CA883841 rs753452754 |
773 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA23697833 rs917948758 |
774 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340597101 rs767312908 |
775 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340597107 rs1458817425 |
775 | R>S | No |
ClinGen gnomAD |
|
|
CA23697873 rs978173635 |
777 | S>F | No |
ClinGen TOPMed |
|
|
rs1198841174 CA340597120 |
778 | R>G | No |
ClinGen gnomAD |
|
|
CA340597125 rs1231833392 |
778 | R>S | No |
ClinGen gnomAD |
|
|
CA340597131 rs1192395919 |
779 | E>D | No |
ClinGen gnomAD |
|
|
rs923745347 CA23697881 |
779 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs553388432 CA23697888 |
781 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM911324 CA340597147 rs1427561328 |
782 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA340597160 rs2457825 |
783 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340597190 rs1490417017 |
788 | T>A | No |
ClinGen TOPMed |
|
|
CA340597200 rs576977898 |
789 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs931927834 CA23697890 |
790 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA340597207 rs1368290746 |
790 | I>T | No |
ClinGen gnomAD |
|
|
rs1281177099 CA340597209 |
791 | R>G | No |
ClinGen gnomAD |
|
|
CA340597212 rs1570933378 |
791 | R>K | No |
ClinGen Ensembl |
|
|
CA340597224 rs1218987312 |
793 | T>A | No |
ClinGen gnomAD |
|
|
CA340597227 rs1271898292 |
793 | T>I | No |
ClinGen gnomAD |
|
|
rs1271898292 CA340597226 |
793 | T>R | No |
ClinGen gnomAD |
|
|
CA340597246 rs1246719767 |
796 | L>* | No |
ClinGen gnomAD |
|
|
rs753058408 CA23697904 |
797 | S>* | No |
ClinGen Ensembl |
|
|
rs1490656614 CA340597249 |
797 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA883848 rs747488185 |
798 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479036730 CA340597262 |
799 | D>G | No |
ClinGen gnomAD |
|
|
CA883849 rs776571490 |
799 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1168824928 CA340597270 |
800 | T>K | No |
ClinGen gnomAD |
|
|
CA340597281 rs1408416023 |
802 | D>E | No |
ClinGen gnomAD |
|
|
rs746021265 CA883850 |
802 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 804 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340597294 rs1167018309 |
804 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1404281054 CA340597307 |
806 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA883852 rs140559126 |
807 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325705586 CA340597324 |
808 | S>N | No |
ClinGen TOPMed |
|
|
rs1342259181 CA340597327 |
808 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1400453348 CA340597332 |
809 | N>S | No |
ClinGen gnomAD |
|
|
CA340597343 rs1269361928 |
811 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1467621346 CA340597346 |
811 | F>S | No |
ClinGen TOPMed |
|
|
CA340597362 rs1570933469 |
813 | V>A | No |
ClinGen Ensembl |
|
|
CA883853 rs761556976 |
814 | L>P | No |
ClinGen ExAC |
|
|
rs767322958 CA883854 |
817 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480439649 CA340597393 |
818 | G>V | No |
ClinGen TOPMed |
|
|
rs1557448860 CA340597407 |
820 | N>I | No |
ClinGen Ensembl |
|
|
CA883855 rs773134809 |
821 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773134809 CA340597413 |
821 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA23697988 rs1036127850 |
821 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA23698005 rs768205434 |
824 | L>V | No |
ClinGen Ensembl |
|
|
rs1489555408 CA340597444 |
826 | P>L | No |
ClinGen gnomAD |
|
|
CA340597464 rs1241832449 |
829 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340597471 rs1200506090 |
830 | A>T | No |
ClinGen TOPMed |
|
|
rs754572019 CA883859 |
831 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs545834023 CA883860 |
832 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340597484 rs1183767969 |
832 | D>Y | No |
ClinGen gnomAD |
|
|
CA340597494 rs1321356524 |
833 | F>C | No |
ClinGen TOPMed |
|
|
CA883862 rs752417164 |
834 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA340597498 rs1557448909 |
834 | R>W | No |
ClinGen Ensembl |
|
|
rs1459258764 CA340597503 |
835 | G>S | No |
ClinGen gnomAD |
|
|
rs758775524 CA883863 |
836 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA340597516 rs1362439214 |
837 | T>P | No |
ClinGen gnomAD |
|
|
CA883864 rs778290486 |
839 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883866 rs747478918 |
840 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883867 rs757695578 |
840 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs781747503 CA340597544 |
841 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781747503 CA883868 |
841 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143824411 CA883869 |
842 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780201723 CA883871 |
843 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426658360 CA340597559 |
844 | E>K | No |
ClinGen TOPMed |
|
|
CA883873 rs768932158 |
846 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883872 rs528788417 |
846 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA883874 rs772869217 |
847 | R>T | No |
ClinGen ExAC |
|
|
CA883876 rs147257684 |
849 | Y>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340597595 rs147257684 |
849 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 850 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA883877 rs770740089 |
851 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1382175702 CA340597618 |
852 | H>R | No |
ClinGen gnomAD |
|
|
rs776657719 CA883878 |
852 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA883879 rs759065164 |
853 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340597639 rs1382668313 |
855 | T>I | No |
ClinGen gnomAD |
|
|
CA23698169 rs1056516 |
855 | T>P | No |
ClinGen Ensembl |
|
|
CA23698182 rs1012935819 |
858 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752333688 CA340597667 |
859 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs11207934 CA23698190 VAR_051094 |
860 | L>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA883882 CA340597673 rs762692663 |
861 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA23698209 rs761467782 |
862 | N>K | No |
ClinGen TOPMed |
|
|
rs781511359 CA883886 |
863 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs149332678 CA340597694 |
864 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340597696 rs1237672847 |
864 | I>M | No |
ClinGen gnomAD |
|
|
rs149332678 CA883887 |
864 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780101871 CA883889 |
865 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA883888 rs367916297 |
865 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q5T7N2
3 regional properties for Q5T7N2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | L1 transposable element, dsRBD-like domain | 253 - 315 | IPR035300-1 |
| domain | L1 transposable element, dsRBD-like domain | 799 - 860 | IPR035300-2 |
| domain | L1 transposable element, RRM domain | 700 - 795 | IPR043636 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| single-stranded RNA binding | Binding to single-stranded RNA. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| transposition, RNA-mediated | Any process involved in a type of transpositional recombination which occurs via an RNA intermediate. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDVSTSVQS | KFARLAKKKE | NITYMKREQL | TETDKDIAPV | LDLKCKDVSA | IMNKFKVLME |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IQDLMFEEMR | ETLKNDLKAV | LGGKATIPEV | KNSENSSSRT | EFQQIINLAL | QKTGMVGKIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GENSKIGDDN | ENLTFKLEVN | ELSGKLDNTN | EYNSNDGKKL | PQGESRSYEV | MGSMEETLCN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDDRDGNRNV | HLEFTERESR | KDGEDEFVKE | MREERKFQKL | KNKEEVLKAS | REEKVLMDEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVLTLVADLS | SATLDISKQW | SNVFNILREN | DFEPKFLCEV | KLAFKCDGEI | KTFSDLQSLR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KFASQKSSVK | ELLKDVLPQK | EEINQGGRKY | GIQEKRDKTL | IDSKHRAGEI | TSDGLSFLFL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KEVKVAKPEE | MKNLETQEEE | FSELEELDEE | ASGMEDDEDT | SGLEEEEEEP | SGLEEEEEEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ASGLEEDEAS | GLEEEEEQTS | EQDSTFQGHT | LVDAKHEVEI | TSDGMETTFI | DSVEDSESEE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EEEGKSSETG | KVKTTSLTEK | KASRRQKEIP | FSYLVGDSGK | KKLVKHQVVH | KTQEEEETAV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PTSQGTGTPC | LTLCLASPSK | SLEMSHDEHK | KHSHTNLSIS | TGVTKLKKTE | EKKHRTLHTE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ELTSKEADLT | EETEENLRSS | VINSIREIKE | EIGNLKSSHS | GVLEIENSVD | DLSSRMDILE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ERIDSLEDQI | EEFSKDTMQM | TKQIISKERQ | RDIEERSRSC | NIRLIGIPEK | ESYENRAEDI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IKEIIDENFA | ELKKGSSLEI | VSACRVPSKI | DEKRLTPRHI | LVKFWNSSDK | EKIIRASRER |
| 790 | 800 | 810 | 820 | 830 | 840 |
| REITYQGTRI | RLTADLSLDT | LDARSKWSNV | FKVLLEKGFN | PRILYPAKMA | FDFRGKTKVF |
| 850 | 860 | ||||
| LSIEEFRDYV | LHMPTLRELL | GNNIP |