O43196
PR
Gene name |
MSH5 |
Protein name |
MutS protein homolog 5 |
Names |
hMSH5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4439 |
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 O43196
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43196-F1 | Predicted | AlphaFoldDB |
572 variants for O43196
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001281663 RCV002260697 rs961633772 |
26 | S>missing | Spermatogenic failure 74 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_087415 rs753519199 CA3721182 |
322 | R>C | SPGF74; unknown pathological significance [UniProt] | Yes |
ExAC TOPMed gnomAD ClinGen UniProt |
| VAR_078116 | 353 | L>M | POF13; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_078117 RCV000477966 CA16616947 rs1060505055 |
487 | D>Y | Premature ovarian failure 13 POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide [ClinVar, UniProt] | Yes |
Ensembl ClinGen ClinVar UniProt dbSNP |
|
RCV002260698 rs1562249204 RCV001281664 |
620 | A>missing | Spermatogenic failure 74 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752657544 CA3721529 VAR_078118 |
703 | I>V | POF13; unknown pathological significance [UniProt] | Yes |
ExAC gnomAD ClinGen UniProt dbSNP |
|
CA363342303 rs867437797 |
3 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs867437797 CA136870697 |
3 | S>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA363342307 rs1400253745 |
4 | L>S | No |
TOPMed ClinGen |
|
|
CA363342312 rs1365883110 CA363342313 |
5 | G>R | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 6 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284389608 CA363342344 |
9 | R>K | No |
ClinGen gnomAD |
|
|
CA363342355 rs1328721732 |
10 | R>G | No |
gnomAD ClinGen |
|
| TCGA novel | 11 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136870701 rs543053495 |
11 | T>S | No |
1000Genomes TOPMed ClinGen |
|
|
CA3720866 rs746002203 |
14 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1244931634 CA363342473 |
16 | R>I | No |
gnomAD ClinGen |
|
|
CA363342493 rs1489451150 |
18 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA136870746 rs866226534 |
19 | A>E | No |
gnomAD ClinGen |
|
|
CA363342515 rs1199842222 |
19 | A>T | No |
gnomAD ClinGen |
|
|
CA363342522 rs866226534 |
19 | A>V | No |
gnomAD ClinGen |
|
|
CA3720869 rs761833682 |
21 | S>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3720870 rs200570010 |
21 | S>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1407988417 CA363342555 |
22 | S>Y | No |
gnomAD ClinGen |
|
|
rs1323423768 CA363342569 |
23 | G>D | No |
gnomAD ClinGen |
|
|
rs1404277828 CA363342564 |
23 | G>R | No |
gnomAD ClinGen |
|
|
rs773181036 CA3720871 |
24 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1583890224 CA363342580 |
24 | F>L | No |
Ensembl ClinGen |
|
|
rs760382710 CA3720872 |
25 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA3720873 rs766196782 |
26 | S>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1350316138 CA363342620 |
26 | S>R | No |
gnomAD ClinGen |
|
| TCGA novel | 27 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408171782 CA363342633 |
28 | A>T | No |
gnomAD ClinGen |
|
|
RCV000455959 VAR_025082 CA3720874 rs2075789 |
29 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
|
CA363342655 rs1242257989 |
30 | V>M | No |
TOPMed ClinGen |
|
|
rs764819567 CA363342675 |
31 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764819567 CA3720876 |
31 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363342776 rs1399705967 |
37 | E>K | No |
TOPMed ClinGen |
|
|
CA136870813 rs1018466417 |
38 | E>K | No |
Ensembl ClinGen |
|
|
CA136870815 rs962405041 |
40 | E>K | No |
ClinGen Ensembl |
|
|
CA136870818 rs559101088 |
43 | E>* | No |
1000Genomes gnomAD ClinGen |
|
|
CA363343023 rs1250720922 |
45 | E>G | No |
ClinGen gnomAD |
|
|
CA566350469 rs1481951458 |
46 | E>E* | No |
gnomAD ClinGen |
|
|
rs1392009363 CA363343047 |
46 | E>K | No |
TOPMed ClinGen |
|
|
rs1456552413 CA363343077 |
47 | L>P | No |
gnomAD ClinGen |
|
|
rs1472291367 CA363343125 |
49 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs760617988 CA3720894 |
51 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363343344 rs1444725613 |
52 | L>Q | No |
ClinGen gnomAD |
|
|
rs776092248 CA3720896 |
54 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs1262863691 CA363343478 |
56 | W>G | No |
ClinGen gnomAD |
|
|
CA363343662 rs1170000008 |
62 | G>R | No |
gnomAD ClinGen |
|
|
CA3720898 rs764619072 |
63 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3720899 rs752295911 |
65 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA3720900 rs758885613 |
66 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363343842 rs1209413151 |
69 | S>N | No |
ClinGen gnomAD |
|
|
CA3720903 rs757557635 |
71 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781635576 CA3720904 |
73 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 79 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363344189 rs779976920 |
82 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363344192 rs1264654777 |
83 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1417449468 CA363344214 |
84 | S>N | No |
TOPMed ClinGen |
|
|
CA3720908 VAR_025083 rs28381349 |
85 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs772135212 CA3720909 |
86 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs1427241995 CA363344267 |
86 | K>N | No |
gnomAD ClinGen |
|
|
rs1245736608 CA363344262 |
86 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1477922821 CA363344290 |
88 | L>F | No |
gnomAD ClinGen |
|
|
rs746959342 CA3720911 |
89 | Q>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 91 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363345792 rs1475168724 |
92 | L>V | No |
TOPMed ClinGen |
|
|
CA3720930 rs762338344 |
98 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
rs1003771751 CA136871730 |
99 | S>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA136871733 rs889291350 |
100 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
CA363345972 rs889291350 |
100 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
rs767743499 CA3720931 |
102 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274108728 CA363346064 |
103 | S>T | No |
TOPMed ClinGen |
|
|
rs989240192 CA136871745 |
106 | Q>R | No |
TOPMed ClinGen |
|
|
rs1408766372 CA363346160 |
107 | D>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1408766372 CA363346156 |
107 | D>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3720933 rs756277944 |
108 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3720935 rs754120062 |
110 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs780394457 CA3720934 |
110 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1025328818 COSM1662863 CA136871754 |
112 | R>* | kidney [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs755055223 CA3720936 |
112 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3720952 rs754068882 |
120 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
COSM4006361 rs755286122 CA3720953 |
120 | Q>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765382400 CA3720954 |
121 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752877507 CA3720955 |
122 | H>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1425500131 CA363346849 |
122 | H>Q | No |
TOPMed ClinGen |
|
|
CA136871843 rs867446497 |
124 | E>K | No |
Ensembl ClinGen |
|
|
CA3720956 rs757134162 |
125 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1420944568 CA363346912 |
126 | K>E | No |
TOPMed ClinGen |
|
| TCGA novel | 127 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480276752 CA363346951 |
127 | R>T | No |
gnomAD ClinGen |
|
|
rs1403219350 CA363346992 |
128 | P>R | No |
gnomAD ClinGen |
|
|
rs745804757 CA3720959 |
130 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA3720960 rs546320539 |
131 | I>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 132 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136871864 rs906559667 |
135 | S>N | No |
Ensembl ClinGen |
|
|
rs1293804623 CA363347188 |
136 | V>A | No |
gnomAD ClinGen |
|
| TCGA novel | 145 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363348564 rs1410526308 |
145 | Q>K | No |
gnomAD ClinGen |
|
|
CA3720982 rs141863919 |
146 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3720983 rs778472555 |
146 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA136872128 rs965034637 |
149 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA363348692 rs1347431600 |
150 | G>R | No |
gnomAD ClinGen |
|
|
CA363348818 rs951767819 |
155 | I>L | No |
TOPMed gnomAD ClinGen |
|
|
rs951767819 CA136872131 |
155 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1344042391 CA363348844 |
156 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs771564610 CA3720985 |
158 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs555852787 CA3720986 |
158 | A>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs147242972 CA3720988 |
159 | M>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs147242972 CA363348914 |
159 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 163 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289238696 CA363349038 |
164 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs200847013 CA363349076 |
166 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA136872149 rs200847013 |
166 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1246912077 CA363349092 |
167 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs544248641 CA3720991 |
170 | S>C | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs544248641 CA3720992 |
170 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs1178426915 CA363349187 |
172 | I>F | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 173 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 174 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246778705 CA363349234 |
174 | F>V | No |
ClinGen TOPMed |
|
|
CA3720995 rs375782879 |
175 | D>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs751638760 CA3720996 |
176 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs1364061906 CA363349313 |
176 | C>W | No |
ClinGen gnomAD |
|
|
rs878954386 CA136872162 |
177 | L>F | No |
gnomAD ClinGen |
|
|
rs1035542409 CA136872165 |
177 | L>H | No |
TOPMed gnomAD ClinGen |
|
|
CA136872166 rs961052469 |
179 | T>I | No |
Ensembl ClinGen |
|
|
CA3721022 rs147515280 |
181 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3721023 rs373533126 |
181 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363349957 rs373533126 |
181 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3721024 rs780879911 |
182 | A>G | No |
ExAC gnomAD ClinGen |
|
|
rs931705193 CA136872309 |
183 | L>P | No |
Ensembl ClinGen |
|
|
CA3721025 rs140046907 |
184 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 185 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363350090 rs1453199689 |
188 | K>Q | No |
gnomAD ClinGen |
|
| TCGA novel | 190 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112751313 CA136872322 |
190 | L>Q | No |
Ensembl ClinGen |
|
|
rs149694647 CA3721028 |
192 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3721029 rs149694647 |
192 | R>G | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs138712583 CA3721031 |
192 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA363350240 rs1426267022 |
194 | R>G | No |
gnomAD ClinGen |
|
|
CA3721035 CA3721033 rs375514940 |
196 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs375514940 CA3721034 |
196 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363350324 rs1221371179 |
198 | E>Q | No |
gnomAD ClinGen |
|
|
CA3721036 rs201310137 |
201 | D>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA136872349 rs28381358 VAR_025084 |
202 | Y>C | No |
1000Genomes ClinGen UniProt dbSNP |
|
|
CA3721037 rs369927732 |
205 | S>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs765150543 CA3721038 |
205 | S>N | No |
ExAC gnomAD ClinGen |
|
|
CA136872374 VAR_025085 rs28381359 |
206 | V>F | No |
ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs28381359 CA3721040 |
206 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs757008823 CA3721043 |
210 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs1470357782 CA363350883 CA363350882 |
214 | F>L | No |
ClinGen gnomAD |
|
|
CA136872406 rs370701049 |
215 | M>T | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs767345603 CA3721064 |
216 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581517780 CA363351156 |
217 | T>A | No |
Ensembl ClinGen |
|
|
CA3721066 rs755523006 |
221 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363351272 rs1337020273 |
222 | I>V | No |
gnomAD ClinGen |
|
|
rs1562221408 CA363351472 |
228 | S>C | No |
Ensembl ClinGen |
|
|
rs1562222608 CA363351702 |
229 | V>I | No |
Ensembl ClinGen |
|
| TCGA novel | 231 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322704307 CA363351781 |
232 | I>V | No |
gnomAD ClinGen |
|
|
CA363351870 rs1203863745 |
236 | E>* | No |
TOPMed ClinGen |
|
|
CA3721084 rs772006766 |
238 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760408814 CA3721086 |
239 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs202161678 CA3721085 |
239 | P>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA136872985 rs878903258 |
243 | K>I | No |
Ensembl ClinGen |
|
|
CA3721087 rs765777525 |
245 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs1480408717 CA363352036 |
246 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA3721088 rs753440321 |
247 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759951855 CA3721089 |
248 | L>R | No |
ExAC gnomAD ClinGen |
|
|
rs765804606 CA3721090 |
251 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs1427727199 CA363352140 |
252 | L>R | No |
gnomAD ClinGen |
|
|
rs1374404021 CA363352169 |
254 | L>V | No |
gnomAD ClinGen |
|
|
CA3721092 rs758709925 |
255 | F>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363353718 rs1342775439 |
258 | L>F | No |
ClinGen gnomAD |
|
|
CA363353744 rs1463325219 |
259 | N>K | No |
Ensembl ClinGen |
|
| TCGA novel | 260 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136874003 rs775716730 |
260 | R>S | No |
Ensembl ClinGen |
|
|
CA136874005 rs927297718 |
263 | C>S | No |
Ensembl ClinGen |
|
|
CA363353825 rs1282907122 |
264 | K>T | No |
gnomAD ClinGen |
|
|
CA3721103 rs760225808 |
265 | W>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1366942259 CA363353864 |
266 | G>E | No |
ClinGen gnomAD |
|
|
CA363353932 rs770677623 |
270 | L>H | No |
ExAC gnomAD ClinGen |
|
|
CA3721104 rs770677623 |
270 | L>R | No |
ExAC gnomAD ClinGen |
|
|
rs1581540487 CA363356163 |
272 | L>Q | No |
Ensembl ClinGen |
|
|
rs763435940 CA3721128 |
273 | W>L | No |
ExAC gnomAD ClinGen |
|
|
CA136875567 rs144471639 |
276 | R>C | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs372287164 CA3721129 |
276 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774724163 CA3721130 |
277 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA3721134 rs142533600 |
279 | H>N | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3721135 rs527471080 |
279 | H>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs142533600 COSM1312011 CA3721133 |
279 | H>Y | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs548939028 CA3721136 |
281 | L>P | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363356436 rs1200625278 CA363356434 |
282 | G>R | No |
TOPMed ClinGen |
|
|
CA363356457 rs1245163682 |
283 | E>K | No |
gnomAD ClinGen |
|
|
CA363356540 rs1312556857 |
285 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
CA3721137 rs200237441 |
285 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136875572 rs1047906074 |
286 | S>P | No |
ClinGen Ensembl |
|
|
COSM3830120 CA3721138 rs777829104 |
287 | R>C | breast [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
COSM1077667 CA363356581 rs746903566 |
287 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3721139 rs746903566 |
287 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs145519200 CA3721140 |
290 | V>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs745544583 CA3721142 |
291 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA3721144 rs146418933 |
292 | Q>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363356730 rs769381856 |
292 | Q>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs769381856 CA3721143 |
292 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748865335 CA3721145 |
295 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 298 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3721147 rs774971042 |
298 | Q>P | No |
ExAC gnomAD ClinGen |
|
|
rs138219906 CA3721149 |
301 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363357022 CA363357029 rs1347323946 |
302 | M>L | No |
TOPMed gnomAD ClinGen |
|
|
CA363357037 rs1334648863 |
302 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
CA363357084 rs1406257671 |
304 | Q>R | No |
TOPMed ClinGen |
|
|
rs1448456133 CA363357197 |
307 | H>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1269438723 CA363357240 |
308 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1009005943 CA136875581 |
308 | R>W | No |
TOPMed ClinGen |
|
|
rs767954064 CA3721150 |
311 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA363357310 rs1191323707 |
312 | H>N | No |
ClinGen TOPMed |
|
|
rs773398484 CA3721151 |
312 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
CA136875583 rs56200818 |
313 | I>V | No |
Ensembl ClinGen |
|
|
rs377707567 COSM3720561 CA3721153 |
316 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ESP ExAC gnomAD ClinGen cosmic curated |
|
rs755163320 CA3721155 |
317 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3721181 rs146730825 |
319 | I>V | No |
ESP ExAC gnomAD ClinGen |
|
|
rs923694243 CA136875602 COSM294574 |
322 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1296509917 CA363357805 |
323 | M>I | No |
Ensembl ClinGen |
|
|
rs1298630548 CA363357788 |
323 | M>V | No |
ClinGen gnomAD |
|
|
rs1364555108 CA363357808 |
324 | K>Q | No |
ClinGen gnomAD |
|
|
CA3721184 rs778496445 |
324 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs747543231 CA3721185 |
325 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs771603486 CA3721186 CA363357927 |
327 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363357945 rs1234557320 |
328 | T>N | No |
gnomAD ClinGen |
|
|
CA363357961 rs1279458314 |
329 | K>T | No |
gnomAD ClinGen |
|
|
rs1352217266 CA363357978 |
330 | V>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1352217266 CA363357973 |
330 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1219232275 CA363357996 |
331 | S>T | No |
gnomAD ClinGen |
|
|
CA363358020 rs1384916782 |
332 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1490228829 CA363358071 |
333 | W>L | No |
ClinGen gnomAD |
|
|
CA136875603 rs920614234 |
334 | Q>* | No |
Ensembl ClinGen |
|
|
rs1208301082 CA363358132 |
335 | V>G | No |
ClinGen gnomAD |
|
|
rs747492678 CA3721188 |
337 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs771456934 CA3721189 |
338 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs975768398 CA136877362 |
340 | V>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1024218277 CA136877365 |
342 | S>G | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 342 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3721210 rs770182829 |
343 | A>S | No |
ExAC ClinGen |
|
|
CA136877366 rs968149872 |
344 | L>P | No |
Ensembl ClinGen |
|
|
rs775624062 CA3721211 |
345 | G>S | No |
ExAC ClinGen |
|
|
rs1379130675 CA363361872 |
347 | R>T | No |
gnomAD ClinGen |
|
|
CA363361865 rs1332664728 |
347 | R>W | No |
gnomAD ClinGen |
|
|
rs1309712663 CA363361893 |
348 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
CA3721216 rs28399976 |
351 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3721215 VAR_025086 rs28399976 |
351 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs1226966371 CA363361956 |
351 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1243252622 CA363361981 |
352 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA3721217 rs776624759 |
354 | P>L | No |
ExAC ClinGen |
|
|
CA363362014 rs1252357006 |
354 | P>T | No |
ClinGen TOPMed |
|
|
rs150348946 CA3721218 |
355 | Q>R | No |
ESP ExAC gnomAD ClinGen |
|
|
rs765055098 CA3721219 |
356 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3721220 rs752328105 |
358 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs758024890 CA3721221 |
359 | L>V | No |
ExAC ClinGen |
|
|
CA3721224 COSM3697754 rs145281780 |
361 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs767522105 CA136877374 |
361 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs781779688 CA3721225 |
362 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA3721226 rs746365164 |
363 | I>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 365 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363362218 rs1425099380 |
365 | Q>P | No |
gnomAD ClinGen |
|
| TCGA novel | 368 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202606859 CA363362337 |
373 | H>Y | No |
TOPMed ClinGen |
|
|
CA3721227 rs371214465 |
374 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3721229 rs752626267 |
375 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1581555433 CA363362384 |
376 | S>I | No |
Ensembl ClinGen |
|
|
rs28399977 VAR_025087 CA3721231 |
377 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
CA363362401 rs1309652288 |
377 | L>P | No |
TOPMed ClinGen |
|
|
CA136877382 rs905227820 |
378 | I>M | No |
TOPMed ClinGen |
|
|
rs774416976 CA363362408 |
378 | I>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs774416976 CA3721232 |
378 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363362450 rs1219316667 |
381 | V>A | No |
gnomAD ClinGen |
|
| TCGA novel | 385 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748346009 CA3721251 |
385 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363362614 rs1225712829 |
387 | S>G | No |
TOPMed ClinGen |
|
|
rs1426472892 CA363362628 |
389 | A>P | No |
ClinGen gnomAD |
|
|
rs772174876 CA3721252 |
392 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs772174876 CA363362649 |
392 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3721253 rs777865774 |
392 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA363362652 rs777865774 |
392 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs772174876 CA363362650 |
392 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs745810613 CA3721254 |
394 | T>R | No |
ExAC gnomAD ClinGen |
|
|
rs1318922901 CA363362680 |
397 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs908424021 CA136877418 |
399 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA136877416 rs982649663 |
399 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
rs768549863 CA3721258 |
402 | E>K | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 403 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774188697 CA3721259 |
405 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA136877440 rs1045289075 |
407 | K>R | No |
ClinGen Ensembl |
|
|
CA3721279 rs772734061 |
408 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760288512 CA3721280 COSM1077671 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA363362888 rs1438957659 |
410 | L>P | No |
ClinGen gnomAD |
|
|
rs201036343 CA3721282 |
412 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759991582 CA3721283 |
414 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA3721285 rs752995567 |
415 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs371674135 CA3721286 |
416 | F>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1464099616 CA363362929 |
417 | L>F | No |
gnomAD ClinGen |
|
|
CA363362941 rs1172989243 |
419 | E>K | No |
ClinGen gnomAD |
|
|
CA363362961 rs1400939483 |
422 | R>C | No |
gnomAD ClinGen |
|
|
rs764436774 CA3721287 |
422 | R>H | No |
ExAC TOPMed ClinGen |
|
|
CA363363008 rs1475124754 |
429 | D>N | No |
TOPMed ClinGen |
|
|
CA3721292 rs749261273 |
431 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3721293 COSM185464 rs146419845 |
431 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA136877450 rs146419845 |
431 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs996971599 CA136877451 |
436 | S>G | No |
ClinGen TOPMed |
|
|
CA3721295 rs748022464 |
439 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA363363309 rs1270579111 |
447 | L>P | No |
TOPMed ClinGen |
|
|
CA3721315 rs746692254 |
447 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA3721316 rs770429409 |
448 | S>F | No |
ExAC gnomAD ClinGen |
|
|
rs1562245683 CA363363332 |
449 | I>T | No |
Ensembl ClinGen |
|
|
CA363363347 rs1454707671 |
450 | P>L | No |
gnomAD ClinGen |
|
|
rs568198414 CA3721317 |
450 | P>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs535334486 CA3721318 |
451 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs139002853 CA136877479 |
451 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1374809697 CA363363361 |
452 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363363379 rs1158900357 |
453 | P>L | No |
gnomAD ClinGen |
|
|
CA363363415 rs1283350101 |
456 | V>L | No |
TOPMed ClinGen |
|
|
rs1384543060 CA363363443 |
458 | A>T | No |
gnomAD ClinGen |
|
|
CA3721320 rs776019613 |
458 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs1226327125 CA363363528 |
463 | I>S | No |
ClinGen TOPMed |
|
|
rs1352005880 CA363363555 |
465 | G>E | No |
gnomAD ClinGen |
|
|
CA3721323 rs769090092 |
469 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA136877482 rs1007207158 |
469 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
rs752708451 CA3721331 |
472 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA363363717 rs1331227391 |
474 | E>K | No |
gnomAD ClinGen |
|
|
CA3721333 rs777634800 |
479 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA3721334 rs751243553 |
479 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs757036190 CA3721335 |
482 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs143329989 CA3721336 |
482 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1242899154 CA363363842 |
483 | T>I | No |
ClinGen gnomAD |
|
|
CA363363850 rs1389491312 |
484 | K>R | No |
TOPMed ClinGen |
|
|
rs1267249402 CA363363857 |
485 | E>K | No |
ClinGen gnomAD |
|
|
rs1335582081 CA363363874 |
486 | L>V | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 487 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564465985 CA136877519 |
490 | L>M | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 492 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136877522 rs936923027 |
495 | C>R | No |
Ensembl ClinGen |
|
|
rs372570974 CA3721340 |
496 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs768980200 CA3721341 |
498 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3721342 rs774915854 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768980200 CA363364142 |
498 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364214339 CA363364264 |
499 | D>E | No |
ClinGen gnomAD |
|
|
CA3721361 rs369328784 |
499 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375240305 CA3721344 |
499 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758506140 CA136877568 |
500 | Q>E | No |
TOPMed ClinGen |
|
|
CA363364301 rs1581560453 |
501 | E>D | No |
Ensembl ClinGen |
|
| TCGA novel | 501 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363364291 rs1203566834 |
501 | E>K | No |
ClinGen gnomAD |
|
|
rs751781847 CA3721362 |
502 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3721364 rs747243519 |
503 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs568300022 CA3721365 |
505 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3721366 rs776904194 |
512 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1157148220 CA363366217 |
513 | L>M | No |
TOPMed ClinGen |
|
|
rs1485891206 CA363366279 |
514 | A>V | No |
gnomAD ClinGen |
|
|
CA3721368 rs765331052 |
515 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs141972312 CA3721369 |
515 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3721370 rs761693917 |
517 | A>P | No |
ExAC gnomAD ClinGen |
|
|
CA363366365 rs1396095125 |
518 | V>I | No |
ClinGen gnomAD |
|
|
rs766003915 CA3721375 |
521 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs766003915 CA3721374 |
521 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs1431554863 CA363366471 |
521 | R>L | No |
gnomAD ClinGen |
|
|
rs1431554863 CA363366466 |
521 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA363366477 rs1293085972 |
522 | V>I | No |
gnomAD ClinGen |
|
|
CA363366480 rs1293085972 |
522 | V>L | No |
ClinGen gnomAD |
|
|
rs1431998328 CA363366605 |
525 | L>F | No |
ClinGen TOPMed |
|
|
rs748684293 CA3721378 |
527 | S>A | No |
ExAC gnomAD ClinGen |
|
|
rs1237740792 CA363366669 |
528 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA136877578 rs898926429 |
528 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA363366714 rs1220175817 |
530 | D>G | No |
gnomAD ClinGen |
|
|
CA363366738 rs1479375303 |
531 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1377935239 CA363366843 |
536 | A>G | No |
gnomAD ClinGen |
|
|
CA363366837 rs1201329599 |
536 | A>T | No |
gnomAD ClinGen |
|
|
CA3721382 rs370037482 |
537 | S>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363366874 rs1254227017 |
538 | A>V | No |
gnomAD ClinGen |
|
|
rs1156485091 CA363366896 |
540 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs771307170 CA3721383 |
542 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA3721384 rs776761232 |
543 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746066292 CA3721385 |
544 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
rs895721974 CA136877581 |
544 | Y>C | No |
Ensembl ClinGen |
|
|
CA3721386 rs368545412 |
547 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs767511035 CA3721389 |
548 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773121271 CA3721390 |
548 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773121271 CA3721391 |
548 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363367171 rs1562247553 |
551 | P>L | No |
ClinGen Ensembl |
|
|
CA363367174 rs1326460511 |
552 | Q>K | No |
gnomAD ClinGen |
|
|
rs867653729 CA136877588 |
554 | L>I | No |
Ensembl ClinGen |
|
|
rs1376133619 CA363367220 |
555 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1444287107 CA363367231 |
556 | V>I | No |
gnomAD ClinGen |
|
|
COSM451217 rs966796074 CA136877591 |
557 | R>Q | Variant assessed as Somatic; 4.624e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3721392 rs766164563 |
560 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3721393 rs753464395 |
561 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1209913246 CA363367639 |
563 | H>R | No |
gnomAD ClinGen |
|
|
rs762594651 CA3721416 |
563 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs369122691 CA136877620 |
566 | M>T | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA363367754 rs1188665133 |
567 | E>K | No |
gnomAD ClinGen |
|
|
CA363367772 rs1423023899 |
568 | L>F | No |
gnomAD ClinGen |
|
|
CA136877622 rs372527730 |
569 | C>Y | No |
ESP ClinGen |
|
|
rs752139216 CA3721418 |
571 | R>* | No |
ExAC gnomAD ClinGen |
|
|
CA3721419 rs757728679 |
571 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA3721420 rs781415195 |
572 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1376829405 CA363367909 |
573 | F>C | No |
gnomAD ClinGen |
|
|
rs1581562187 CA363367893 |
573 | F>V | No |
ClinGen Ensembl |
|
|
rs1439080670 CA363367937 |
574 | V>G | No |
TOPMed ClinGen |
|
|
CA363367923 rs1415037901 |
574 | V>M | No |
gnomAD ClinGen |
|
|
CA3721423 rs780305341 |
579 | E>A | No |
ExAC gnomAD ClinGen |
|
|
CA3721424 RCV000952524 rs45468693 |
580 | C>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs768752717 CA363368168 |
581 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3721425 rs768752717 |
581 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1218999283 CA363368234 |
583 | D>Y | No |
ClinGen gnomAD |
|
|
rs778914313 CA3721427 |
585 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs746932578 CA3721428 |
587 | V>D | No |
ExAC gnomAD ClinGen |
|
|
rs1228678047 CA363368361 |
588 | K>R | No |
TOPMed ClinGen |
|
|
CA363368384 rs1242628907 |
589 | V>I | No |
gnomAD ClinGen |
|
|
rs1581562530 TCGA novel CA363368412 |
590 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA3721429 rs770830813 |
591 | T>P | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 592 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3721430 rs776424705 |
592 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA363368490 rs1434911254 |
593 | P>R | No |
gnomAD ClinGen |
|
|
rs1396690527 CA363368480 |
593 | P>S | No |
ClinGen gnomAD |
|
|
rs1157646234 CA363368511 |
594 | N>I | No |
TOPMed gnomAD ClinGen |
|
|
CA363368510 rs1157646234 |
594 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769686810 CA3721432 |
595 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363368581 rs1318481233 |
598 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
CA136877634 rs1024841664 |
601 | Y>H | No |
TOPMed ClinGen |
|
|
CA3721433 rs61748589 |
603 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363368864 rs1308996881 |
605 | V>I | No |
gnomAD ClinGen |
|
|
CA363368956 rs758391199 |
608 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3721448 rs781237213 |
610 | F>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3721449 rs745755479 |
613 | L>M | No |
ExAC gnomAD ClinGen |
|
|
CA3721450 rs769736864 |
619 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs775371109 CA3721451 |
622 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3721452 rs748958256 |
623 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs773862644 CA3721454 |
624 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1420450908 CA363369306 |
625 | I>M | No |
gnomAD ClinGen |
|
|
rs529144916 COSM1257980 CA3721455 |
627 | A>V | oesophagus [Cosmic] | No |
1000Genomes ExAC gnomAD ClinGen cosmic curated |
|
CA136877705 rs367550649 |
628 | V>L | No |
ESP TOPMed ClinGen |
|
|
CA3721458 rs569026702 |
630 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 630 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363369479 rs1397242192 |
631 | I>M | No |
gnomAD ClinGen |
|
|
COSM185467 rs766742261 CA3721459 |
634 | R>Q | large_intestine breast [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1297918100 CA363369572 |
635 | I>V | No |
ClinGen gnomAD |
|
|
rs754134814 CA3721460 |
636 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs139795131 CA363369673 |
638 | C>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3721462 rs765549669 |
639 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 642 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363369943 rs1231521758 |
649 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758542821 CA3721466 |
651 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1217960899 CA363370125 |
653 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1217960899 CA363370121 |
653 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs971199165 CA136877762 |
656 | A>T | No |
Ensembl ClinGen |
|
|
CA3721486 rs751759812 |
656 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs1171491067 CA363370569 |
660 | N>I | No |
gnomAD ClinGen |
|
|
CA3721489 rs753796312 |
660 | N>K | No |
ExAC gnomAD ClinGen |
|
|
rs1171491067 CA363370568 |
660 | N>S | No |
gnomAD ClinGen |
|
|
rs754835753 CA3721490 |
661 | N>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 664 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3721492 rs747848552 |
665 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA363370757 rs1287197549 |
666 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs777477382 CA3721494 |
670 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA363370885 rs1302365717 |
671 | D>G | No |
gnomAD ClinGen |
|
|
COSM1077677 rs746576082 CA136877769 |
672 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs143496126 CA3721496 |
672 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3721495 rs746576082 |
672 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs935670710 CA136877771 |
673 | F>L | No |
ClinGen Ensembl |
|
|
rs777160024 CA3721497 |
676 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3721501 rs371336753 |
679 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3721513 rs777447655 |
680 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780625907 CA136877803 |
684 | A>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363371344 rs780625907 |
684 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs561487480 CA363371330 |
684 | A>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs561487480 CA3721515 |
684 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3721516 rs780625907 |
684 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1452325739 CA363371358 |
685 | L>F | No |
gnomAD ClinGen |
|
|
rs923587532 CA136877806 |
688 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs375591471 COSM1621441 CA3721522 |
691 | R>* | liver Variant assessed as Somatic; 4.633e-05 impact. [Cosmic, NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs201166095 CA3721523 |
691 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201166095 CA3721524 |
691 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201166095 CA363371506 |
691 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750458730 CA3721526 |
692 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760800506 CA3721527 |
696 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA3721528 rs200755245 |
696 | R>H | Variant assessed as Somatic; 0.0006024 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363371788 rs1292837626 |
702 | H>Y | No |
TOPMed ClinGen |
|
|
rs931839218 CA136877817 |
709 | F>I | No |
TOPMed ClinGen |
|
| TCGA novel | 711 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3721534 rs780820087 |
719 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA3721535 rs745428814 |
720 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA136877819 rs957004773 |
721 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA3721536 rs148479115 |
722 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3721560 rs748578129 |
729 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs779556401 CA3721559 |
729 | M>V | No |
ExAC gnomAD ClinGen |
|
|
rs773345589 CA3721562 |
732 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs773345589 CA3721563 |
732 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770936535 CA3721564 |
733 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA363372617 rs1315155376 |
734 | D>Y | No |
TOPMed ClinGen |
|
|
CA136877866 rs911714366 |
736 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
rs776713339 CA3721566 |
737 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776713339 CA363372709 |
737 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs776713339 CA3721565 |
737 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3721567 rs764077523 |
739 | V>F | No |
ExAC gnomAD ClinGen |
|
|
CA3721569 rs761636864 |
740 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs1217823336 CA363372808 |
741 | F>L | No |
gnomAD ClinGen |
|
|
rs1248622175 CA363372831 |
741 | F>L | No |
gnomAD ClinGen |
|
|
CA3721570 rs767263679 |
742 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136877871 rs767263679 |
742 | Y>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1562251778 CA363372916 |
743 | Q>R | No |
Ensembl ClinGen |
|
|
CA3721571 rs750069319 |
746 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3721572 rs760320865 |
748 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs566679964 CA3721573 |
749 | A>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3721575 rs754518812 |
751 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs753220603 CA3721577 |
753 | H>N | No |
ExAC gnomAD ClinGen |
|
|
CA3721578 rs758863824 |
753 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778148878 CA3721579 |
754 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1581568470 CA363374966 |
758 | A>V | No |
Ensembl ClinGen |
|
|
rs1348605243 CA363374992 |
759 | A>D | No |
gnomAD ClinGen |
|
|
rs1225595574 CA363375033 |
760 | Q>H | No |
ClinGen gnomAD |
|
|
CA363375059 rs1268689405 |
762 | G>E | No |
ClinGen gnomAD |
|
|
CA363375089 rs1467983020 |
763 | L>P | No |
gnomAD ClinGen |
|
|
rs771253756 CA3721581 |
764 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA363375102 rs1211533286 |
764 | P>S | No |
gnomAD ClinGen |
|
|
CA363375134 CA363375135 rs1180604122 |
765 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1451775630 CA363375122 |
765 | D>G | No |
gnomAD ClinGen |
|
|
CA3721582 rs781259202 |
766 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1159342042 CA363375164 |
766 | K>N | No |
gnomAD ClinGen |
|
|
CA363375142 rs1470869937 |
766 | K>T | No |
ClinGen gnomAD |
|
|
rs745997271 CA3721583 |
767 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA363375194 rs1449784203 |
768 | V>M | No |
ClinGen TOPMed |
|
|
rs769834225 COSM1443343 CA136878596 |
770 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs769834225 CA3721584 |
770 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1394531726 CA363375474 |
775 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs142634264 CA3721600 |
779 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142634264 CA3721601 |
779 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3721602 rs148601889 |
779 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1413060919 CA363375596 |
781 | G>A | No |
gnomAD ClinGen |
|
|
CA3721603 VAR_025088 rs1802127 |
786 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs772116642 CA3721604 |
789 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs146473863 CA3721605 |
791 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363375731 rs1484396931 |
792 | K>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA363375778 rs1202856417 |
794 | N>D | No |
ClinGen TOPMed |
|
|
rs573697229 CA3721607 |
794 | N>K | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs538970548 CA3721609 |
796 | M>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3721610 rs759215400 |
798 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs866903702 CA363376062 |
803 | V>L | No |
gnomAD ClinGen |
|
|
rs866903702 CA136878689 |
803 | V>M | No |
ClinGen gnomAD |
|
|
CA136878693 rs952525164 |
805 | K>N | No |
Ensembl ClinGen |
|
|
rs770781686 CA3721626 |
806 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA136878696 rs200703636 |
807 | M>I | No |
Ensembl ClinGen |
|
|
rs1363750231 CA363376160 |
807 | M>T | No |
ClinGen TOPMed |
|
|
rs147878532 CA3721627 |
808 | K>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs141493879 CA136878698 |
810 | D>E | No |
ESP ClinGen |
|
|
rs1562253176 CA363376211 |
810 | D>Y | No |
Ensembl ClinGen |
|
|
rs189410690 CA3721629 |
811 | L>M | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1453194999 CA363376262 |
812 | E>D | No |
gnomAD ClinGen |
|
|
CA3721630 rs775261672 |
812 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA363376323 rs1298811565 |
815 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
CA363376363 rs1287035563 |
817 | D>G | No |
gnomAD ClinGen |
|
|
CA136878702 rs984858871 |
818 | L>M | No |
Ensembl ClinGen |
|
|
CA3721632 rs763472304 COSM3830123 |
820 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs199880617 CA136878707 |
822 | M>V | No |
1000Genomes ClinGen |
|
|
CA3721633 rs774946202 |
824 | Q>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 829 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 830 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220631009 CA363376685 |
832 | S>G | No |
gnomAD ClinGen |
|
|
CA363376694 rs1301597352 |
832 | S>N | No |
gnomAD ClinGen |
|
|
CA363376691 rs1301597352 |
832 | S>T | No |
gnomAD ClinGen |
1 associated diseases with O43196
[MIM: 617442]: Premature ovarian failure 13 (POF13)
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:28175301}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:28175301}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent DNA damage sensor activity | A molecule that recognises toxic DNA structures, and initiates a signalling response, driven by ATP hydrolysis. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| mismatched DNA binding | Binding to a double-stranded DNA region containing one or more mismatches. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| chiasma assembly | The cell cycle process in which a connection between chromatids assembles, indicating where an exchange of homologous segments has taken place by the crossing-over of non-sister chromatids. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P20585 | MSH3 | DNA mismatch repair protein Msh3 | Homo sapiens (Human) | PR |
| P43246 | MSH2 | DNA mismatch repair protein Msh2 | Homo sapiens (Human) | PR |
| P52701 | MSH6 | DNA mismatch repair protein Msh6 | Homo sapiens (Human) | PR |
| Q9QUM7 | Msh5 | MutS protein homolog 5 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASLGANPRR | TPQGPRPGAA | SSGFPSPAPV | PGPREAEEEE | VEEEEELAEI | HLCVLWNSGY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGIAYYDTSD | STIHFMPDAP | DHESLKLLQR | VLDEINPQSV | VTSAKQDENM | TRFLGKLASQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EHREPKRPEI | IFLPSVDFGL | EISKQRLLSG | NYSFIPDAMT | ATEKILFLSS | IIPFDCLLTV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RALGGLLKFL | GRRRIGVELE | DYNVSVPILG | FKKFMLTHLV | NIDQDTYSVL | QIFKSESHPS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VYKVASGLKE | GLSLFGILNR | CHCKWGEKLL | RLWFTRPTHD | LGELSSRLDV | IQFFLLPQNL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DMAQMLHRLL | GHIKNVPLIL | KRMKLSHTKV | SDWQVLYKTV | YSALGLRDAC | RSLPQSIQLF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RDIAQEFSDD | LHHIASLIGK | VVDFEGSLAE | NRFTVLPNID | PEIDEKKRRL | MGLPSFLTEV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ARKELENLDS | RIPSCSVIYI | PLIGFLLSIP | RLPSMVEASD | FEINGLDFMF | LSEEKLHYRS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ARTKELDALL | GDLHCEIRDQ | ETLLMYQLQC | QVLARAAVLT | RVLDLASRLD | VLLALASAAR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DYGYSRPRYS | PQVLGVRIQN | GRHPLMELCA | RTFVPNSTEC | GGDKGRVKVI | TGPNSSGKSI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YLKQVGLITF | MALVGSFVPA | EEAEIGAVDA | IFTRIHSCES | ISLGLSTFMI | DLNQVAKAVN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NATAQSLVLI | DEFGKGTNTV | DGLALLAAVL | RHWLARGPTC | PHIFVATNFL | SLVQLQLLPQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GPLVQYLTME | TCEDGNDLVF | FYQVCEGVAK | ASHASHTAAQ | AGLPDKLVAR | GKEVSDLIRS |
| 790 | 800 | 810 | 820 | 830 | |
| GKPIKPVKDL | LKKNQMENCQ | TLVDKFMKLD | LEDPNLDLNV | FMSQEVLPAA | TSIL |