Q96DN5
PR
Gene name |
TBC1D31 (WDR67) |
Protein name |
TBC1 domain family member 31 |
Names |
WD repeat-containing protein 67 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:93594 |
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 Q96DN5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96DN5-F1 | Predicted | AlphaFoldDB |
795 variants for Q96DN5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4862899 rs775524538 |
2 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1015361610 CA184475840 |
2 | Q>R | No |
ClinGen TOPMed |
|
|
rs1003378447 CA184475851 |
3 | S>N | No |
ClinGen Ensembl |
|
|
CA372099989 rs1176613065 |
4 | T>S | No |
ClinGen gnomAD |
|
|
CA372100003 rs1250597356 |
5 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1053125586 CA372100061 |
7 | G>A | No |
ClinGen TOPMed |
|
|
CA184475852 rs1053125586 |
7 | G>D | No |
ClinGen TOPMed |
|
|
CA372100130 COSM4006834 rs1461665297 |
10 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1397151727 CA372100169 |
11 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774771378 CA4862903 |
11 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862904 rs150445562 |
12 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862905 rs767712118 |
12 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374120119 CA372100322 |
16 | H>L | No |
ClinGen gnomAD |
|
|
CA184475882 rs1011514720 |
17 | R>C | No |
ClinGen Ensembl |
|
|
rs750775172 CA4862906 |
17 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs761061049 CA4862907 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1305607992 CA372100715 |
24 | R>L | No |
ClinGen gnomAD |
|
|
CA372100713 rs1274806808 |
24 | R>W | No |
ClinGen gnomAD |
|
|
CA372100757 rs1203704848 |
25 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs868034099 CA184475887 |
25 | D>G | No |
ClinGen Ensembl |
|
|
rs1251853909 CA372100763 |
26 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1251853909 CA372100765 |
26 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4862909 rs754322989 |
26 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs759949001 CA184477778 |
27 | I>V | No |
ClinGen TOPMed |
|
|
rs765679821 CA4862928 |
28 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs999690318 CA184477781 |
28 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA184477786 rs1036311631 |
31 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752745217 CA4862932 |
32 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143900037 CA4862933 |
36 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862935 rs749023833 |
37 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921994005 CA184477815 |
39 | H>Q | No |
ClinGen Ensembl |
|
|
CA372103627 rs1280802679 |
39 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4862936 rs754979468 |
40 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372103646 rs1194572310 |
40 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 41 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4862938 rs146419869 |
44 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862940 rs761729827 |
44 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291022113 CA372103917 |
47 | N>S | No |
ClinGen TOPMed |
|
|
CA372103951 rs1563662411 |
49 | A>T | No |
ClinGen Ensembl |
|
|
CA4862942 rs747229872 |
49 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354881794 CA372104015 |
51 | D>E | No |
ClinGen TOPMed |
|
|
CA184477850 rs200279612 |
51 | D>Y | No |
ClinGen Ensembl |
|
|
CA4862944 rs776998335 |
53 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395697727 CA372104059 |
53 | T>I | No |
ClinGen TOPMed |
|
|
CA4862946 rs201776968 |
54 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372104064 rs1474346079 |
54 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372104097 rs1165967389 |
55 | D>G | No |
ClinGen gnomAD |
|
|
rs750559202 CA4862949 |
55 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367444171 CA372104139 |
56 | C>F | No |
ClinGen Ensembl |
|
|
CA372104198 rs1202874246 |
58 | I>S | No |
ClinGen TOPMed |
|
|
CA372104220 rs1410473998 |
59 | A>P | No |
ClinGen gnomAD |
|
|
rs1274378935 CA372104261 |
61 | D>V | No |
ClinGen TOPMed |
|
|
rs143770939 CA4862953 |
63 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862954 rs373830178 |
65 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61753517 CA4862956 |
70 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA184477975 rs987410537 |
72 | H>D | No |
ClinGen TOPMed |
|
|
rs777915972 CA372104620 |
72 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs987410537 CA372104612 |
72 | H>N | No |
ClinGen TOPMed |
|
|
CA372104624 CA184477984 rs148678046 |
72 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777915972 CA4862958 |
72 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs141262757 CA4862959 |
73 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372106906 rs1190403068 |
76 | F>L | No |
ClinGen gnomAD |
|
|
CA4862979 rs372744245 |
77 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757300043 CA4862980 |
77 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 80 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372107041 rs1426060652 |
81 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs375672841 CA4862981 |
81 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746079162 CA372107089 |
83 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746079162 CA4862982 |
83 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749558093 CA4862985 |
85 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs780472552 CA372107166 |
85 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862984 rs780472552 |
85 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184481436 rs367584320 |
86 | C>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774967786 CA4862987 |
88 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760309449 CA4862988 |
89 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237129733 CA372107321 |
90 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371808668 CA184481464 |
91 | F>L | No |
ClinGen ESP gnomAD |
|
|
rs995755286 CA184481466 |
93 | L>F | No |
ClinGen Ensembl |
|
|
rs375186187 CA372107449 |
94 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375186187 CA4862991 |
94 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs117552523 CA4862992 |
94 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117552523 CA4862993 |
94 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375186187 CA4862990 |
94 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862995 rs762612207 |
97 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1413486218 CA372107543 |
98 | E>A | No |
ClinGen TOPMed |
|
|
CA372107553 rs1416831485 |
99 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372107557 rs1250163951 |
99 | F>Y | No |
ClinGen TOPMed |
|
|
rs527519230 CA184481523 |
101 | V>A | No |
ClinGen 1000Genomes |
|
|
CA184481535 rs977132998 |
106 | Y>H | No |
ClinGen TOPMed |
|
|
CA4862997 rs751479788 |
107 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757389232 CA4862998 |
110 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs139223176 CA4863000 |
112 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139223176 CA4862999 |
112 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372108345 rs745313392 |
114 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4863010 rs745313392 |
114 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1319514471 CA372108029 |
114 | V>L | No |
ClinGen TOPMed |
|
|
rs1337643867 CA372108368 |
115 | T>S | No |
ClinGen TOPMed |
|
|
CA372108467 rs1475109807 |
119 | V>I | No |
ClinGen gnomAD |
|
|
rs774979426 CA4863012 |
122 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1464691096 CA372108565 |
122 | M>L | No |
ClinGen gnomAD |
|
|
rs1485090792 CA372108578 |
122 | M>R | No |
ClinGen Ensembl |
|
|
CA4863013 rs762859502 |
124 | G>A | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 125 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4863014 COSM1095687 rs763866746 |
127 | S>A | Variant assessed as Somatic; 9.243e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372108745 rs1291965804 |
127 | S>L | No |
ClinGen TOPMed |
|
|
rs144033919 COSM1095689 CA4863015 |
131 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144033919 CA184482389 |
131 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1003696910 CA184482403 |
133 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372110044 rs1393786338 |
134 | V>M | No |
ClinGen TOPMed |
|
|
CA4863019 rs756108156 |
135 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314629202 CA372110109 |
137 | S>* | No |
ClinGen gnomAD |
|
|
CA4863020 rs766671990 |
137 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1000294610 CA184482481 |
140 | Y>* | No |
ClinGen TOPMed |
|
|
rs755459739 CA4863022 |
141 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs139812181 CA4863023 |
141 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs988423348 CA184482525 |
146 | S>A | No |
ClinGen Ensembl |
|
|
CA4863026 rs778380388 |
148 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863027 rs745419216 |
151 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372110432 rs1427254510 |
152 | W>* | No |
ClinGen gnomAD |
|
|
CA4863028 rs370099257 CA372110423 |
152 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170432886 CA372110454 |
153 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4863029 rs775274122 |
155 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs199623987 CA4863030 |
160 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1375013915 CA372110624 |
161 | R>G | No |
ClinGen gnomAD |
|
|
CA372110673 rs1330353371 |
163 | L>P | No |
ClinGen TOPMed |
|
|
rs968267957 CA184482537 |
164 | N>D | No |
ClinGen Ensembl |
|
|
CA372110695 rs1281785058 |
164 | N>S | No |
ClinGen TOPMed |
|
|
CA4863031 rs763893402 COSM3698816 |
166 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4863032 rs374284052 |
166 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372110803 rs1418171687 |
168 | S>Y | No |
ClinGen Ensembl |
|
|
CA4863033 rs761548988 |
170 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1320511527 CA372110867 |
171 | I>K | No |
ClinGen Ensembl |
|
|
rs1554604602 CA4863034 |
172 | Q>K | No |
ClinGen Ensembl |
|
|
CA4863036 rs61753518 |
172 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343595827 CA372114800 |
174 | V>I | No |
ClinGen TOPMed |
|
|
rs533210409 CA4863058 |
176 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224582242 CA372115074 |
180 | S>G | No |
ClinGen gnomAD |
|
|
rs1265372315 CA372115111 |
180 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372115136 rs1478419020 |
181 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4863059 rs78218780 |
182 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372115316 rs1159541535 |
185 | S>I | No |
ClinGen gnomAD |
|
|
rs1357170947 CA372115345 |
186 | C>Y | No |
ClinGen TOPMed |
|
|
CA372115446 rs1459800427 |
188 | K>N | No |
ClinGen gnomAD |
|
|
rs1390653041 CA372115441 |
188 | K>R | No |
ClinGen gnomAD |
|
|
CA372115470 rs1325200802 |
189 | D>G | No |
ClinGen gnomAD |
|
|
rs566610543 CA184488945 |
189 | D>Y | No |
ClinGen 1000Genomes |
|
|
CA4863061 rs765593354 |
192 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4863062 rs752940779 |
198 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4863063 rs763473392 |
199 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764365571 CA4863064 |
200 | L>P | No |
ClinGen ExAC gnomAD |
|
| rs1327142910 | 202 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113133107 CA184488994 |
202 | C>R | No |
ClinGen Ensembl |
|
|
CA4863065 rs751887563 |
206 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs757720269 CA4863066 |
208 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863067 rs781690470 |
209 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397294051 CA372116099 |
209 | P>S | No |
ClinGen TOPMed |
|
|
CA372116116 rs1212330651 |
210 | P>S | No |
ClinGen gnomAD |
|
|
rs1460638424 CA372116125 |
211 | E>K | No |
ClinGen TOPMed |
|
|
rs535744319 CA372116146 |
212 | S>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA184489000 rs535744319 |
212 | S>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4863068 rs753379920 |
212 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs148998681 CA4863070 |
214 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374966500 CA4863072 |
215 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863071 rs747793801 |
215 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368195088 CA184489024 |
216 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA184489022 rs568852731 |
216 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs777440242 CA4863073 |
217 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372116384 rs1391287541 |
221 | A>V | No |
ClinGen gnomAD |
|
|
CA4863074 rs746767864 |
223 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863094 rs746817829 |
225 | D>G | No |
ClinGen ExAC |
|
|
CA184491112 rs1024093573 |
225 | D>H | No |
ClinGen TOPMed |
|
|
COSM1737818 rs370037938 CA4863095 |
227 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA372118077 rs143777547 |
227 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4863096 rs143777547 |
227 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769791988 CA4863098 |
229 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863099 rs201820963 |
232 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256564786 CA372118162 |
232 | G>R | No |
ClinGen gnomAD |
|
|
CA184491141 rs911090407 |
233 | G>S | No |
ClinGen Ensembl |
|
|
rs749342592 CA372118243 |
236 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749342592 CA4863100 |
236 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768792600 CA4863101 |
237 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA184491163 rs983397084 |
238 | L>I | No |
ClinGen TOPMed |
|
|
rs1460232914 CA372118290 |
239 | H>R | No |
ClinGen TOPMed |
|
|
rs1185711371 CA372118286 COSM3412735 |
239 | H>Y | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4863102 rs774603058 |
240 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA372118322 rs1199803022 |
241 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 242 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767911030 CA4863104 |
242 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309713752 CA372118344 |
243 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465222342 CA372118378 |
246 | R>G | No |
ClinGen gnomAD |
|
|
CA4863105 rs773497753 |
248 | L>F | No |
ClinGen ExAC |
|
|
CA4863107 rs766820143 |
249 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1212252138 CA372118500 |
250 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372118535 rs200087751 |
252 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406030522 CA372118547 |
252 | I>T | No |
ClinGen gnomAD |
|
|
rs200087751 CA4863108 |
252 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4863109 rs757890383 |
253 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA372118573 rs1586604219 |
253 | Q>P | No |
ClinGen Ensembl |
|
|
rs1436546020 CA372118696 |
258 | V>F | No |
ClinGen gnomAD |
|
|
CA184491220 rs763700367 |
259 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563691394 CA372118729 |
259 | R>Q | No |
ClinGen Ensembl |
|
|
CA184491242 rs977123861 |
262 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4863112 rs142466644 |
262 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1347424479 CA372118873 |
264 | L>V | No |
ClinGen gnomAD |
|
|
CA4863113 rs781141965 |
265 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267265192 CA372119172 |
274 | G>D | No |
ClinGen gnomAD |
|
|
rs930284209 CA184493495 |
278 | V>I | No |
ClinGen Ensembl |
|
|
rs1294192012 CA372119973 |
279 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372120051 rs1258972985 |
281 | V>A | No |
ClinGen TOPMed |
|
|
rs1056466324 CA184493500 |
281 | V>I | No |
ClinGen Ensembl |
|
|
rs1215195936 CA372120065 |
282 | L>V | No |
ClinGen TOPMed |
|
|
rs779062563 CA4863139 |
284 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs531294126 CA4863140 |
285 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1351375016 CA372120150 |
286 | G>A | No |
ClinGen gnomAD |
|
|
rs146525996 CA4863142 |
287 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4863144 rs771269366 |
288 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs747419915 CA4863143 |
288 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA372120275 rs1420575272 |
289 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1431848913 CA372120318 |
290 | F>C | No |
ClinGen gnomAD |
|
|
CA4863145 rs777068341 |
292 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968224721 CA184493550 |
293 | M>I | No |
ClinGen TOPMed |
|
|
CA184493551 rs950246846 |
294 | Q>H | No |
ClinGen Ensembl |
|
|
rs1481807728 CA372120544 |
296 | C>R | No |
ClinGen gnomAD |
|
|
rs1252024200 CA372120686 |
300 | F>L | No |
ClinGen gnomAD |
|
|
rs760089946 CA4863146 |
301 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs184916748 CA4863147 |
302 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768230252 CA4863148 |
306 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1488974 rs1166812337 CA372120868 |
307 | E>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA372120970 rs1586615336 |
310 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 311 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4863149 rs761370465 |
313 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs368981347 CA184493562 |
314 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs866646579 CA184493570 |
316 | P>L | No |
ClinGen Ensembl |
|
|
CA184493597 rs999337072 |
317 | H>R | No |
ClinGen gnomAD |
|
|
rs139083623 CA4863151 |
317 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863152 rs141415400 COSM1095695 |
319 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA184493610 rs867194178 |
319 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4863154 rs753517723 |
320 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863156 rs547684677 |
321 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4863155 rs547684677 |
321 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372121147 rs1259601789 |
322 | A>T | No |
ClinGen TOPMed |
|
|
CA184493620 COSM1700597 rs1054511006 |
323 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1343849826 CA372121168 |
324 | I>V | No |
ClinGen gnomAD |
|
|
rs1207659156 CA372121192 |
325 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752860104 CA372121222 |
326 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4863157 rs752860104 |
326 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372121260 rs1483151432 |
327 | N>K | No |
ClinGen gnomAD |
|
|
rs758447248 CA4863158 |
328 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362289778 CA372121347 |
331 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1230080156 CA372121409 |
333 | Y>C | No |
ClinGen gnomAD |
|
|
CA4863160 rs747223602 |
333 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781632538 CA4863162 |
337 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208926257 CA372121520 |
338 | L>F | No |
ClinGen TOPMed |
|
|
rs554664295 CA184493679 |
340 | Q>P | No |
ClinGen Ensembl |
|
|
CA4863163 rs746174446 |
341 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs775832511 CA4863166 |
342 | I>K | No |
ClinGen ExAC TOPMed |
|
|
CA4863165 rs770366885 |
342 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775832511 CA372121603 |
342 | I>R | No |
ClinGen ExAC TOPMed |
|
|
rs775832511 CA184493695 |
342 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA372121642 rs1362861142 |
343 | N>S | No |
ClinGen gnomAD |
|
|
rs1230096552 CA372121690 |
344 | K>N | No |
ClinGen TOPMed |
|
|
CA372123037 rs1249834572 |
346 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 346 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4863191 rs769220252 |
347 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372123101 rs1243181631 |
350 | V>E | No |
ClinGen TOPMed |
|
|
CA184496753 rs954537273 |
352 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs954537273 CA372123127 |
352 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4863195 rs770657058 |
353 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372123161 rs1262052546 |
354 | E>D | No |
ClinGen TOPMed |
|
|
rs1425947018 CA372123179 |
356 | L>F | No |
ClinGen gnomAD |
|
|
CA184496769 rs949120388 |
356 | L>M | No |
ClinGen Ensembl |
|
|
rs1204797318 CA372123185 |
357 | P>S | No |
ClinGen TOPMed |
|
|
CA372123198 rs1166185741 |
358 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776124754 CA4863196 |
360 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1042437842 CA184496779 |
362 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1213890620 CA372123273 |
362 | S>T | No |
ClinGen TOPMed |
|
|
CA4863197 rs759430233 |
364 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759430233 CA372123294 |
364 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337953091 CA372123307 |
365 | D>A | No |
ClinGen gnomAD |
|
|
CA4863198 rs764933203 |
365 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863199 rs373535103 |
366 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372123327 rs1357701896 |
366 | L>P | No |
ClinGen gnomAD |
|
|
rs1248194522 CA372123341 |
367 | K>R | No |
ClinGen gnomAD |
|
|
CA4863200 rs200917678 |
368 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200917678 CA4863202 |
368 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200917678 CA4863201 |
368 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1341721589 CA372123375 |
369 | K>* | No |
ClinGen gnomAD |
|
|
CA4863203 rs757256782 |
369 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA372123415 rs1274836889 |
372 | S>P | No |
ClinGen gnomAD |
|
|
rs767833086 CA4863204 |
373 | G>E | No |
ClinGen ExAC |
|
| TCGA novel | 376 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756567957 CA4863206 |
377 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780287969 CA4863207 |
380 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755571460 CA4863209 |
381 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs370892415 CA4863208 |
381 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389075983 CA372123561 |
382 | R>G | No |
ClinGen gnomAD |
|
|
rs914676866 CA184496893 |
383 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4863211 rs746566850 |
384 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4863212 rs770333419 |
385 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586630179 CA372123713 |
388 | T>A | No |
ClinGen Ensembl |
|
|
CA4863214 rs745507970 |
390 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372123838 rs1563704423 |
393 | Q>E | No |
ClinGen Ensembl |
|
|
rs775283522 CA4863216 |
394 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863215 rs769427581 |
394 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372123904 rs1343148886 |
396 | T>S | No |
ClinGen gnomAD |
|
|
CA372123940 rs1189773349 |
397 | G>A | No |
ClinGen gnomAD |
|
|
rs762699319 CA4863217 |
397 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA372123976 rs1203631816 |
398 | D>G | No |
ClinGen TOPMed |
|
|
rs774253600 CA4863219 |
400 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372124041 rs1563704595 |
401 | S>N | No |
ClinGen Ensembl |
|
|
CA4863234 rs544995570 |
409 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4863235 rs564788738 |
413 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs965232389 COSM1095701 CA184499547 |
414 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4863236 rs16897967 VAR_027960 |
414 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372125589 rs1430387689 |
416 | Q>* | No |
ClinGen gnomAD |
|
|
CA184499583 rs1035524994 |
416 | Q>P | No |
ClinGen gnomAD |
|
|
rs773189405 CA184499587 |
421 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863239 rs773189405 |
421 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863241 rs766755820 |
422 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs760775886 CA4863240 |
422 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs776979335 CA4863243 |
425 | Y>H | No |
ClinGen ExAC |
|
|
rs747927993 CA4863258 |
430 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA372125821 rs1420179184 |
434 | W>* | No |
ClinGen gnomAD |
|
|
rs139296149 COSM1454618 CA4863259 |
435 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs142505887 CA4863260 |
435 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186509486 CA4863261 |
436 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372125860 rs186509486 |
436 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186509486 CA4863262 |
436 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4863264 rs61752913 |
442 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775746337 CA4863266 |
446 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764560017 CA4863268 |
448 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4863271 rs765878736 |
453 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863273 rs139426980 |
456 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757258693 CA184499782 |
456 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1563710629 CA372126280 |
456 | H>Y | No |
ClinGen Ensembl |
|
|
rs61729926 CA4863274 |
458 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863275 rs778590249 |
458 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746947181 CA4863279 |
465 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1182590054 CA372126452 |
467 | P>A | No |
ClinGen gnomAD |
|
|
CA372126457 rs770929608 |
467 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770929608 CA4863280 |
467 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776868889 CA4863281 |
470 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA372126508 rs1401401382 |
471 | R>W | No |
ClinGen gnomAD |
|
|
CA4863282 rs745899709 |
474 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1316504103 CA372126532 |
475 | R>G | No |
ClinGen gnomAD |
|
|
rs1362448946 CA372126542 |
476 | V>A | No |
ClinGen gnomAD |
|
|
CA4863283 rs770177401 |
478 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA372099867 rs1363631032 |
480 | T>A | No |
ClinGen gnomAD |
|
|
CA372099871 rs1232853762 |
480 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 482 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4863296 rs757922218 |
482 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA372099908 rs1323328288 |
483 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372099925 rs1563724994 |
484 | L>* | No |
ClinGen Ensembl |
|
|
rs1586670125 CA372099936 |
485 | A>T | No |
ClinGen Ensembl |
|
|
rs541786303 CA4863297 |
486 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780616960 CA184481520 |
487 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4863298 rs751346549 |
489 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372100009 rs1394990313 |
490 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4863301 rs371798153 |
494 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745997465 CA4863303 |
495 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863302 rs745997465 |
495 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201349972 CA4863305 |
496 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372100160 rs768702703 |
499 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4863306 rs768702703 |
499 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774721113 CA4863307 |
500 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372100198 rs1475045983 |
501 | A>T | No |
ClinGen Ensembl |
|
|
CA4863308 rs377257419 |
503 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372100297 rs1346494028 |
505 | V>I | No |
ClinGen gnomAD |
|
|
CA372100371 rs1433823606 |
508 | F>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 509 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772609237 CA4863309 |
509 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1188620953 CA372100416 |
510 | N>D | No |
ClinGen TOPMed |
|
|
rs144774552 CA4863310 |
510 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254199209 CA372100432 |
510 | N>K | No |
ClinGen TOPMed |
|
|
CA4863311 rs147905539 |
512 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863312 rs764807129 |
513 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA184481571 rs919102065 |
514 | I>F | No |
ClinGen TOPMed |
|
|
rs561570593 CA372100520 |
514 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4863315 rs763610263 |
519 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA372100607 rs1217019698 |
519 | I>V | No |
ClinGen TOPMed |
|
|
rs950504067 CA184481595 |
520 | A>T | No |
ClinGen TOPMed |
|
|
rs750188986 CA4863338 |
524 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4863317 rs757093955 |
524 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA372102794 rs1166279021 |
527 | C>Y | No |
ClinGen gnomAD |
|
|
CA4863339 rs756099623 |
529 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372102859 rs1409684911 |
530 | W>* | No |
ClinGen gnomAD |
|
|
rs1434152758 CA372102873 |
531 | F>L | No |
ClinGen TOPMed |
|
|
rs766188179 CA4863340 |
532 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356775568 CA372102899 |
532 | E>A | No |
ClinGen gnomAD |
|
|
CA4863341 rs753992057 |
534 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA372102972 rs1314430869 |
535 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372102988 rs148945860 |
537 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148945860 CA4863342 |
537 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143667620 CA4863343 |
539 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1188873216 CA372103045 |
540 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748372901 CA4863344 |
541 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs758557561 CA4863345 |
543 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863346 rs778133349 |
544 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1440621388 CA372103149 |
544 | M>V | No |
ClinGen gnomAD |
|
|
CA4863349 rs771505339 |
548 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA372103363 rs1372086877 |
549 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4863350 rs775534433 |
552 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748885178 CA4863351 |
553 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs773935442 CA4863353 |
558 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586687347 CA372103741 |
561 | I>V | No |
ClinGen Ensembl |
|
|
CA372103777 rs1454583845 |
562 | D>Y | No |
ClinGen gnomAD |
|
|
CA4863355 rs767233564 |
563 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs371733322 CA4863356 |
565 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1025128680 CA184486457 |
566 | T>I | No |
ClinGen Ensembl |
|
|
CA4863358 rs577351150 |
567 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372104005 rs766389804 CA4863359 |
568 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 569 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372104085 rs1203524764 |
569 | L>P | No |
ClinGen TOPMed |
|
|
rs772720110 CA4863375 |
570 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4863376 rs760578691 |
571 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs906757866 CA184486740 |
579 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA372104333 rs1270128679 |
579 | F>S | No |
ClinGen gnomAD |
|
|
rs765115223 CA4863380 |
584 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765115223 CA372104449 |
584 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863381 rs752813557 |
585 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762997967 CA4863382 |
586 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1424339211 CA372104502 |
587 | E>G | No |
ClinGen gnomAD |
|
|
rs764356094 CA4863383 |
587 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303501617 CA372104572 |
590 | K>E | No |
ClinGen gnomAD |
|
|
rs751724482 CA4863384 |
590 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4863386 rs781425236 |
593 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781425236 CA372104640 |
593 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336281105 CA372104671 |
594 | N>T | No |
ClinGen gnomAD |
|
|
CA184486792 rs1053001954 |
598 | N>S | No |
ClinGen Ensembl |
|
|
rs756720485 CA4863388 |
600 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA184486814 rs1047683456 |
603 | L>I | No |
ClinGen TOPMed |
|
|
CA4863389 rs372012446 |
604 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863393 rs111744757 |
605 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192939621 CA372104826 |
605 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs192939621 CA4863392 |
605 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4863394 rs368578595 |
606 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4863396 rs200373362 |
607 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 610 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021290712 CA184486867 |
613 | C>R | No |
ClinGen TOPMed |
|
|
CA4863400 rs764087239 |
613 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4863401 rs138083564 |
616 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297405344 CA372105079 |
618 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4863404 rs767738937 |
620 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372105219 rs1312236421 |
623 | L>V | No |
ClinGen gnomAD |
|
|
CA4863405 rs750861656 |
625 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA184488284 rs1043484290 |
629 | F>C | No |
ClinGen Ensembl |
|
|
CA372105959 rs570441854 |
629 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184488271 rs570441854 |
629 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570441854 CA4863428 |
629 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761191005 CA4863429 |
631 | F>L | No |
ClinGen ExAC |
|
|
rs766857300 CA4863430 |
632 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs768246273 | 632 | H>S | Variant assessed as Somatic; 0.0008166 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768246273 | 632 | H>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262718652 CA372105989 |
633 | H>R | No |
ClinGen gnomAD |
|
|
CA4863432 rs755467786 |
633 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372105996 rs1271522641 |
634 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4863433 rs765740220 |
634 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1428504060 CA372105998 |
635 | N>Y | No |
ClinGen gnomAD |
|
|
rs371962928 CA4863434 |
638 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863435 rs145990079 |
639 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140575323 CA4863436 |
640 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429441127 CA372106045 |
641 | V>I | No |
ClinGen gnomAD |
|
|
rs1390006026 CA372106066 |
643 | I>F | No |
ClinGen TOPMed |
|
|
rs1166476865 CA372106086 |
644 | R>T | No |
ClinGen Ensembl |
|
|
CA4863437 rs375263253 |
645 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755707730 CA4863438 |
647 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184488322 rs1017255714 |
647 | Y>N | No |
ClinGen Ensembl |
|
|
CA4863439 rs560605102 |
648 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749043279 CA4863440 |
649 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4863442 rs774327469 |
650 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4863441 rs768516417 |
650 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4863445 rs369677519 |
653 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950912702 CA184488405 |
654 | P>T | No |
ClinGen Ensembl |
|
|
CA372106314 rs1489429615 |
655 | T>A | No |
ClinGen gnomAD |
|
|
rs1489429615 CA372106302 |
655 | T>P | No |
ClinGen gnomAD |
|
|
CA4863448 rs754388151 |
659 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 660 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759918405 CA4863449 |
661 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 661 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765722191 CA4863450 |
661 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA184488451 rs970087618 |
662 | M>T | No |
ClinGen Ensembl |
|
|
rs1016311822 CA184488448 |
662 | M>V | No |
ClinGen Ensembl |
|
|
CA184488453 rs1028335359 |
665 | V>G | No |
ClinGen TOPMed |
|
|
rs1209284292 CA372106543 |
667 | V>I | No |
ClinGen TOPMed |
|
|
CA4863453 rs767026300 |
670 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA372106677 rs1351732166 |
672 | G>E | No |
ClinGen TOPMed |
|
|
CA372106698 rs1346581559 |
673 | Q>E | No |
ClinGen gnomAD |
|
|
rs1370292287 CA372106716 |
673 | Q>H | No |
ClinGen Ensembl |
|
|
CA4863454 COSM1581939 rs150413948 |
678 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA184488543 rs956100108 |
680 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs148399547 CA4863455 |
680 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs993036771 CA184488554 |
683 | F>L | No |
ClinGen TOPMed |
|
|
CA4863457 rs373169535 |
684 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753626216 CA4863458 |
685 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754793121 CA4863459 |
686 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA184488586 rs992085996 |
686 | D>E | No |
ClinGen Ensembl |
|
|
rs748124853 CA4863461 |
687 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778786241 CA4863460 |
687 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA372107070 rs778786241 |
687 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291347381 CA372107153 |
689 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 690 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372107207 rs1490441570 |
691 | E>* | No |
ClinGen gnomAD |
|
|
rs771850028 CA4863462 COSM1095711 |
692 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375226758 CA4863464 |
692 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375226758 CA4863463 |
692 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771324048 CA4863465 |
694 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 696 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372107402 rs776975284 CA4863466 |
697 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372107393 rs1230697488 |
697 | N>Y | No |
ClinGen gnomAD |
|
|
rs1381667785 CA372107429 |
698 | D>G | No |
ClinGen gnomAD |
|
|
rs775656861 CA4863469 |
701 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA372107580 rs1353267684 |
704 | R>* | No |
ClinGen gnomAD |
|
|
rs1485837722 CA372107867 |
707 | Q>H | No |
ClinGen TOPMed |
|
|
rs771129679 CA4863484 |
708 | T>K | No |
ClinGen ExAC gnomAD |
|
|
VAR_027961 rs16898023 CA4863485 |
709 | V>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372107941 rs1165336853 |
709 | V>G | No |
ClinGen gnomAD |
|
|
rs769858295 CA4863487 |
710 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746113633 CA4863486 |
710 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775956449 CA4863488 |
711 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4863489 rs369772094 |
712 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372108003 rs1403093756 |
712 | M>V | No |
ClinGen gnomAD |
|
|
rs1047414007 CA184489180 |
713 | Q>* | No |
ClinGen Ensembl |
|
|
CA4863490 rs769200318 |
715 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA372108126 rs1273849624 |
716 | V>L | No |
ClinGen TOPMed |
|
|
rs555206504 CA184489228 |
717 | D>G | No |
ClinGen 1000Genomes |
|
|
rs760248886 CA372108161 |
717 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863492 rs760248886 |
717 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55959319 CA4863494 |
718 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372108255 rs1400379841 |
719 | Q>H | No |
ClinGen gnomAD |
|
|
rs759258580 CA4863496 |
720 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA372108306 rs1321345508 |
721 | V>A | No |
ClinGen gnomAD |
|
|
rs1563737947 CA372108297 |
721 | V>L | No |
ClinGen Ensembl |
|
|
rs1243264768 CA372108404 |
723 | D>E | No |
ClinGen gnomAD |
|
|
rs1202482451 CA372108364 |
723 | D>N | No |
ClinGen gnomAD |
|
|
CA372108416 rs1301447705 |
724 | E>A | No |
ClinGen TOPMed |
|
|
rs764761864 CA4863497 |
725 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA372108447 rs1190521173 |
725 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 726 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475252886 CA372108484 |
727 | Y>* | No |
ClinGen gnomAD |
|
|
rs201999431 CA4863498 |
727 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355596183 CA372108656 |
733 | L>P | No |
ClinGen TOPMed |
|
|
rs199814173 CA4863500 |
734 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4863501 rs748134157 COSM453949 |
734 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757200601 CA4863502 |
735 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1421027416 CA372108717 |
736 | A>G | No |
ClinGen TOPMed |
|
|
rs568764398 CA4863503 |
739 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1403064374 CA372108819 |
740 | R>K | No |
ClinGen gnomAD |
|
|
rs1192407110 CA372108848 |
741 | R>K | No |
ClinGen TOPMed |
|
|
rs756400379 CA4863505 |
742 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA372108890 rs1445965790 |
743 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780117210 CA4863506 |
744 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1563738190 CA372108939 |
744 | L>P | No |
ClinGen Ensembl |
|
|
CA4863507 rs749712060 |
746 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4863510 rs557772208 |
748 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 750 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233340857 CA372109127 |
751 | M>V | No |
ClinGen TOPMed |
|
|
rs781244486 CA184489370 |
752 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4863512 rs772522996 |
753 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA184489385 rs895923449 |
753 | Q>R | No |
ClinGen Ensembl |
|
|
CA4863513 rs776242678 |
754 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs758944084 CA4863514 |
754 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758944084 CA184489409 |
754 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372109242 rs1257684847 |
755 | R>G | No |
ClinGen TOPMed |
|
|
rs769188817 CA4863536 CA4863535 |
757 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372110195 rs1586700118 |
760 | A>G | No |
ClinGen Ensembl |
|
|
rs1378952870 CA372110186 |
760 | A>T | No |
ClinGen TOPMed |
|
|
rs763798008 CA4863538 |
761 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863539 rs201015849 |
764 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs992475093 CA372110333 |
769 | E>K | No |
ClinGen gnomAD |
|
|
rs992475093 CA184490027 |
769 | E>Q | No |
ClinGen gnomAD |
|
|
rs1563739518 CA372110360 |
770 | M>R | No |
ClinGen Ensembl |
|
|
CA4863540 rs761681110 |
771 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1246936870 CA372110368 |
771 | H>Y | No |
ClinGen TOPMed |
|
|
CA372110403 rs1293954988 |
773 | Q>K | No |
ClinGen gnomAD |
|
|
rs1050725086 CA184490037 |
774 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4863542 rs750324680 |
775 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA184490066 rs868080111 |
775 | A>V | No |
ClinGen Ensembl |
|
|
rs144633458 CA4863543 |
777 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372110479 rs1312370058 |
778 | R>G | No |
ClinGen gnomAD |
|
|
CA184490071 CA4863544 rs766386715 |
778 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74653260 CA4863545 |
779 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4863546 rs375869322 |
779 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4863548 rs753115910 |
782 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs758680954 CA4863549 |
785 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4863550 rs778128588 |
785 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA372110636 rs936104872 |
786 | D>G | No |
ClinGen gnomAD |
|
|
CA4863551 rs747484008 |
786 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs936104872 CA184490132 |
786 | D>V | No |
ClinGen gnomAD |
|
|
CA4863553 rs145219867 |
787 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863552 rs145219867 |
787 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768474366 CA4863555 |
788 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs200262739 CA4863556 |
790 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372110742 rs1276682464 |
791 | E>K | No |
ClinGen TOPMed |
|
|
CA4863557 rs761735380 |
792 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4863559 rs773006065 |
797 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4863561 rs766267384 |
798 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863563 rs759596754 |
802 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760352540 CA4863577 |
803 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760490867 CA4863578 |
804 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770909554 CA4863579 |
806 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776542021 CA4863580 |
807 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1454620 rs1210914427 CA372112104 |
808 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA184492562 rs1040974624 |
808 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs78108104 CA184492563 |
809 | E>K | No |
ClinGen Ensembl |
|
|
COSM603926 rs144947635 CA4863581 |
811 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA584824128 rs1437709519 |
813 | T>* | No |
ClinGen gnomAD |
|
|
rs901068116 CA184492569 |
815 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4863582 rs763910052 |
815 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372112241 rs1200274385 |
816 | D>H | No |
ClinGen TOPMed |
|
|
rs1428527436 CA372112358 |
821 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1428527436 CA372112356 |
821 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775588948 CA4863584 |
824 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184492590 rs763736344 |
825 | E>K | No |
ClinGen gnomAD |
|
|
CA372112546 rs1297951578 |
829 | R>T | No |
ClinGen gnomAD |
|
|
rs138143641 CA184497447 |
836 | T>I | No |
ClinGen ESP |
|
|
rs374464251 CA4863603 |
837 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451450080 CA372114481 |
844 | K>R | No |
ClinGen gnomAD |
|
|
rs1295338787 CA372114574 |
846 | M>T | No |
ClinGen gnomAD |
|
|
CA4863605 rs763066093 |
847 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1454621 CA4863607 rs774629373 |
847 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA372114766 rs1356193489 |
851 | D>E | No |
ClinGen gnomAD |
|
|
rs1310191177 CA372114722 |
851 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1310191177 CA372114727 |
851 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756952918 CA184497496 |
852 | A>G | No |
ClinGen gnomAD |
|
|
CA4863608 rs762061691 |
853 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs778510309 CA184497498 |
853 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4863609 rs768008578 |
854 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4863610 rs147736638 |
855 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4863611 rs756722175 |
855 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4863612 rs766882367 |
859 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs757918607 CA4863614 |
860 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372115286 rs1406339549 |
863 | M>L | No |
ClinGen gnomAD |
|
|
CA4863616 rs777076749 |
863 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA4863617 rs746685869 |
864 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA372115428 rs756852144 |
865 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4863618 rs756852144 |
865 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769771130 CA4863621 |
868 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4863620 rs745630080 |
868 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184497613 rs935365041 |
869 | E>* | No |
ClinGen Ensembl |
|
|
rs1157360110 CA372115659 |
870 | A>G | No |
ClinGen TOPMed |
|
|
rs775484254 CA4863622 |
871 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 875 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988530025 CA184497623 |
876 | Q>H | No |
ClinGen Ensembl |
|
|
rs751026611 CA4863636 |
883 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 884 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144810574 CA4863637 |
885 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1490624632 CA372117295 |
886 | L>F | No |
ClinGen TOPMed |
|
|
CA4863639 rs377641064 |
887 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1278877670 CA372117312 |
888 | K>E | No |
ClinGen gnomAD |
|
|
rs1443853481 CA372117356 |
889 | A>V | No |
ClinGen gnomAD |
|
|
CA372117417 rs755931795 |
892 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863640 rs755931795 |
892 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779648064 CA184498896 |
896 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4863641 rs779648064 |
896 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs768430577 CA4863643 |
897 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768654714 CA4863644 |
900 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172121410 CA372117530 |
901 | Q>P | No |
ClinGen gnomAD |
|
|
CA372117543 rs1403172809 |
902 | S>Y | No |
ClinGen gnomAD |
|
|
rs748210292 CA4863645 |
904 | H>R | No |
ClinGen ExAC |
|
|
rs201089892 CA4863647 |
907 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4863646 rs772475299 |
907 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA372117628 rs1473428330 |
908 | C>R | No |
ClinGen gnomAD |
|
|
CA4863648 rs760910075 |
909 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4863649 rs773099623 |
910 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375997353 COSM1674146 CA4863652 |
913 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs751117700 CA372117698 |
913 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751117700 CA4863653 |
913 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863655 rs767222741 |
915 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs750081972 CA4863656 |
916 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318822933 CA372117747 |
917 | Y>H | No |
ClinGen TOPMed |
|
|
rs190996798 CA184499038 |
921 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs755665590 CA4863657 |
923 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863659 rs371594974 |
926 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA184499042 rs774610384 |
927 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201283513 CA4863660 |
928 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA372117890 rs1427510096 |
928 | R>I | No |
ClinGen TOPMed |
|
|
CA372117929 rs1388449194 |
931 | E>Q | No |
ClinGen gnomAD |
|
|
rs992438958 CA184499070 |
932 | I>T | No |
ClinGen Ensembl |
|
|
CA372117981 rs1325312181 |
934 | I>T | No |
ClinGen gnomAD |
|
|
rs1477864953 CA372117992 |
935 | I>T | No |
ClinGen TOPMed |
|
|
rs747798870 CA4863663 |
937 | A>N | No |
ClinGen ExAC gnomAD |
|
|
CA4863664 rs748300338 |
938 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1218496199 CA372118148 |
944 | K>T | No |
ClinGen TOPMed |
|
|
rs753718616 CA4863686 |
946 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA372118407 rs1180705451 |
946 | W>R | No |
ClinGen gnomAD |
|
|
rs1422971240 CA372118444 |
947 | K>N | No |
ClinGen gnomAD |
|
|
rs1563756887 CA372118463 |
948 | E>A | No |
ClinGen Ensembl |
|
|
COSM1195819 rs373632078 CA4863687 |
949 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA184500581 rs917152229 |
950 | E>D | No |
ClinGen Ensembl |
|
|
CA372118538 rs1370110471 |
951 | G>A | No |
ClinGen gnomAD |
|
|
CA4863689 rs752691273 |
953 | E>G | No |
ClinGen ExAC |
|
|
rs778028513 CA4863691 |
954 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1466759795 CA372118672 |
955 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1551429 CA4863692 rs766203135 |
955 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs927566114 CA184500611 |
960 | K>R | No |
ClinGen TOPMed |
|
|
rs757546759 CA4863693 |
963 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs746309956 CA4863695 |
965 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA372118912 rs1181773190 |
965 | L>R | No |
ClinGen TOPMed |
|
|
rs1586738097 CA372118924 |
967 | D>N | No |
ClinGen Ensembl |
|
|
rs150743619 CA4863696 |
968 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206737826 CA372119017 |
971 | K>Q | No |
ClinGen gnomAD |
|
|
rs749817579 CA4863698 |
971 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200785901 CA372119046 |
972 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1200785901 CA372119048 |
972 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769112524 CA4863700 |
973 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs772750343 CA4863701 |
974 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760084698 CA4863702 |
975 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA184500724 rs143426083 |
976 | Q>R | No |
ClinGen ESP gnomAD |
|
|
CA4863703 rs147130740 |
977 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA184500740 rs908891802 |
978 | I>T | No |
ClinGen TOPMed |
|
|
CA4863704 rs776147183 |
979 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4863705 rs759165989 |
980 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863707 rs752497026 |
981 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752497026 CA4863708 |
981 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335604100 CA372119299 |
983 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4863710 rs751717627 |
983 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4863712 rs111783539 |
985 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863713 rs781265834 |
988 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371596549 CA184500904 |
988 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA4863714 rs750623016 |
992 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA372120278 rs1438744083 |
994 | P>H | No |
ClinGen gnomAD |
|
|
CA372120305 rs1438744083 |
994 | P>L | No |
ClinGen gnomAD |
|
|
rs779274133 CA4863736 |
995 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA184504552 rs374936183 |
996 | F>L | No |
ClinGen ESP |
|
|
CA372120374 rs1409107132 |
997 | Q>E | No |
ClinGen gnomAD |
|
|
rs748620695 CA4863737 |
997 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748620695 CA184504561 |
997 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163206123 CA372120441 |
998 | N>K | No |
ClinGen gnomAD |
|
|
CA4863738 rs144804597 |
999 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372120455 rs1458461319 |
999 | E>G | No |
ClinGen gnomAD |
|
|
CA372120471 rs1224761081 |
1000 | Q>R | No |
ClinGen TOPMed |
|
|
CA372120557 rs1466179062 |
1003 | S>G | No |
ClinGen gnomAD |
|
|
CA4863739 rs780604534 |
1003 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA372120640 rs865861054 |
1006 | P>L | No |
ClinGen TOPMed |
|
|
CA184504584 rs865861054 |
1006 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1008 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372120765 rs1446260330 |
1012 | N>S | No |
ClinGen gnomAD |
|
|
rs1289496519 CA372120799 |
1013 | D>V | No |
ClinGen TOPMed |
|
|
rs1353379961 CA372120837 |
1014 | S>F | No |
ClinGen TOPMed |
|
|
CA4863740 rs745346236 |
1015 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4863741 rs547122178 |
1020 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145832961 CA4863742 |
1021 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4863743 rs762627023 |
1022 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs768315399 CA4863764 |
1024 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4863766 rs201501136 |
1027 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1235609648 CA372121239 |
1029 | A>T | No |
ClinGen gnomAD |
|
|
CA4863768 rs771962789 |
1031 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4863769 rs771962789 |
1031 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs940516155 CA184505496 |
1032 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA372121325 rs1413034741 |
1033 | D>G | No |
ClinGen gnomAD |
|
|
rs760543101 CA4863770 |
1035 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863773 rs776646676 |
1039 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA372121462 rs1586755424 |
1040 | I>T | No |
ClinGen Ensembl |
|
|
rs759713100 CA4863774 |
1041 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1044 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924062934 CA184505534 |
1045 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1271470293 CA372121585 |
1046 | L>F | No |
ClinGen gnomAD |
|
|
CA372121589 rs765471958 |
1046 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4863775 rs765471958 |
1046 | L>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1581940 rs372043385 CA4863776 |
1047 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4863777 rs181753396 |
1047 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764578068 CA4863778 |
1048 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4863779 rs751959796 |
1048 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4863781 rs779822641 |
1051 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1193970366 CA372121723 |
1051 | T>S | No |
ClinGen gnomAD |
|
|
rs754395624 CA4863783 |
1052 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4863782 rs748979023 |
1052 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778498085 CA372121761 |
1053 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778498085 CA4863784 |
1053 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395933255 CA372121755 |
1053 | R>W | No |
ClinGen gnomAD |
|
|
rs1359788904 CA372121782 |
1054 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4863787 rs143615136 |
1055 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863788 COSM1454623 rs746780529 |
1055 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA184505600 rs143615136 |
1055 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4863789 rs770748162 |
1058 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372121876 rs770748162 |
1058 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776789395 CA4863790 |
1059 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1059 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759820455 CA4863791 |
1060 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759820455 CA372121923 |
1060 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776884949 CA184505627 |
1061 | P>A | No |
ClinGen Ensembl |
|
|
rs765166769 CA4863792 |
1062 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4863793 VAR_057632 rs34994118 |
1065 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1460353643 CA372122054 |
1066 | A>E | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q96DN5
8 regional properties for Q96DN5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 424 - 610 | IPR000195 |
| repeat | WD40 repeat | 39 - 70 | IPR001680-1 |
| repeat | WD40 repeat | 72 - 112 | IPR001680-2 |
| repeat | WD40 repeat | 115 - 153 | IPR001680-3 |
| repeat | WD40 repeat | 156 - 196 | IPR001680-4 |
| repeat | WD40 repeat | 209 - 242 | IPR001680-5 |
| repeat | WD40 repeat | 245 - 292 | IPR001680-6 |
| repeat | WD40 repeat | 295 - 334 | IPR001680-7 |
Functions
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43033 | PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit beta | Bos taurus (Bovine) | PR |
| B0LSW3 | PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit beta | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q9PTR5 | PAFAH1B1 | Lissencephaly-1 homolog | Gallus gallus (Chicken) | PR |
| Q5IS43 | PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit alpha | Pan troglodytes (Chimpanzee) | PR |
| Q7KNS3 | Lis-1 | Lissencephaly-1 homolog | Drosophila melanogaster (Fruit fly) | PR |
| P43034 | PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit beta | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UNX4 | WDR3 | WD repeat-containing protein 3 | Homo sapiens (Human) | PR |
| P63005 | Pafah1b1 | Platelet-activating factor acetylhydrolase IB subunit beta | Mus musculus (Mouse) | PR |
| Q9GL51 | PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit alpha | Sus scrofa (Pig) | PR |
| P63004 | Pafah1b1 | Platelet-activating factor acetylhydrolase IB subunit alpha | Rattus norvegicus (Rat) | PR |
| Q6NZH4 | pafah1b1 | Lissencephaly-1 homolog | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q803D2 | pafah1b1b | Lissencephaly-1 homolog B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q7T394 | pafah1b1a | Lissencephaly-1 homolog A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQSTDLGNKE | SGKIWHRKPS | PATRDGIIVN | IIHNTSDYHP | KVLRFLNVAF | DGTGDCLIAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DHQGNIYVFD | LHGNRFNLVQ | RTAQACTALA | FNLRRKSEFL | VALADYSIKC | FDTVTKELVS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WMRGHESSVF | SISVHASGKY | AITTSSDTAQ | LWDLDTFQRK | RKLNIRQSVG | IQKVFFLPLS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NTILSCFKDN | SIFAWECDTL | FCKYQLPAPP | ESSSILYKVF | AVTRDGRILA | AGGKSNHLHL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WCLEARQLFR | IIQMPTKVRA | IRHLEFLPDS | FDAGSNQVLG | VLSQDGIMRF | INMQTCKLLF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EIGSLDEGIS | SSAISPHGRY | IASIMENGSL | NIYSVQALTQ | EINKPPPPLV | KVIEDLPKNK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSSSDLKMKV | TSGRVQQPAK | SRESKMQTRI | LKQDLTGDFE | SKKNELPDGL | NKKRLQILLK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GYGEYPTKYR | MFIWRSLLQL | PENHTAFSTL | IDKGTHVAFL | NLQKKYPIKS | RKLLRVLQRT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LSALAHWSVI | FSDTPYLPLL | AFPFVKLFQN | NQLICFEVIA | TLIINWCQHW | FEYFPNPPIN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ILSMIENVLA | FHDKELLQHF | IDHDITSQLY | AWPLLETVFS | EVLTREEWLK | LFDNIFSNHP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SFLLMTVVAY | NICSRTPLLS | CNLKDDFEFF | FHHRNNLDIN | VVIRQVYHLM | ETTPTDIHPD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SMLNVFVALT | KGQYPVFNQY | PKFIVDYQTQ | ERERIRNDEL | DYLRERQTVE | DMQAKVDQQR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VEDEAWYQKQ | ELLRKAEETR | REMLLQEEEK | MIQQRQRLAA | VKRELKVKEM | HLQDAARRRF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LKLQQDQQEM | ELRRLDDEIG | RKVYMRDREI | AATARDLEMR | QLELESQKRL | YEKNLTENQE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ALAKEMRADA | DAYRRKVDLE | EHMFHKLIEA | GETQSQKTQK | VIKENLAKAE | QACLNTDWQI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QSLHKQKCDD | LQRNKCYQEV | AKLLRENRRK | EIEIINAMVE | EEAKKWKEAE | GKEFRLRSAK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KASALSDASR | KWFLKQEINA | AVEHAENPCH | KEEPRFQNEQ | DSSCLPRTSQ | LNDSSEMDPS |
| 1030 | 1040 | 1050 | 1060 | ||
| TQISLNRRAV | EWDTTGQNLI | KKVRNLRQRL | TARARHRCQT | PHLLAA |