P33993
PR
Gene name |
MCM7 |
Protein name |
DNA replication licensing factor MCM7 |
Names |
CDC47 homolog, P1.1-MCM3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4176 |
EC number |
3.6.4.12: Acting on ATP; involved in cellular and subcellular movement |
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
751 variants for P33993
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs771112156 CA4374329 |
3 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368461653 rs1215505729 |
4 | K>N | No |
ClinGen gnomAD |
|
|
CA368461657 rs1300153110 |
4 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1300153110 CA368461661 |
4 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200061657 CA4374328 |
5 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361624646 CA368461651 |
5 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4374327 rs776444840 |
7 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA368461552 rs1274684675 |
8 | L>P | No |
ClinGen TOPMed |
|
|
rs369472513 CA4374325 |
9 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368461545 rs369472513 |
9 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368461504 rs1423496444 |
10 | K>E | No |
ClinGen gnomAD |
|
|
CA4374324 rs779791120 |
10 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368461487 rs1363325016 |
10 | K>R | No |
ClinGen gnomAD |
|
|
rs1175476557 CA368460354 |
11 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1428761330 CA368461473 |
11 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368460340 rs1468120210 |
12 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1468120210 CA368460343 |
12 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1448500499 CA368460313 |
13 | V>F | No |
ClinGen gnomAD |
|
|
rs1159882756 CA368460262 |
14 | K>E | No |
ClinGen gnomAD |
|
|
CA4374286 rs765502274 |
15 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs890554533 CA163208344 |
17 | L>* | No |
ClinGen TOPMed |
|
|
CA4374284 rs775177866 |
18 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1623388 CA368460137 rs775177866 |
18 | Q>K | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4374282 rs771850757 |
18 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1324342823 CA368460081 |
19 | E>A | No |
ClinGen TOPMed |
|
|
CA4374281 rs759404323 |
19 | E>K | No |
ClinGen ExAC |
|
|
rs1242878539 CA368460050 |
20 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774274421 CA368460045 |
20 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368460057 rs1242878539 |
20 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758619648 CA4374278 |
21 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4374279 rs770984389 |
21 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1315877295 CA368460005 |
22 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1315877295 CA368460008 |
22 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA368459971 rs769613147 CA4374276 |
22 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA368459984 rs1304230161 |
22 | Q>R | No |
ClinGen gnomAD |
|
|
rs753115391 CA163208311 |
23 | D>G | No |
ClinGen Ensembl |
|
|
CA4374275 rs145303124 |
23 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368459885 rs1562899896 |
26 | L>V | No |
ClinGen Ensembl |
|
|
rs112216147 CA4374272 |
27 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758895720 CA4374270 |
28 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750551919 CA4374269 |
30 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473113176 CA368459743 |
31 | F>L | No |
ClinGen TOPMed |
|
|
CA368459669 rs1187360514 |
33 | Y>C | No |
ClinGen TOPMed |
|
|
rs765260186 CA4374268 |
34 | G>E | No |
ClinGen ExAC |
|
|
CA4374265 rs759438516 |
35 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA163208258 rs1037560365 |
36 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA368459596 rs1037560365 |
36 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs200663471 CA4374263 |
36 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368459540 COSM603144 rs1263034966 |
37 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1396825913 CA368458662 |
39 | R>L | No |
ClinGen gnomAD |
|
|
COSM1093960 rs1396825913 CA368458670 |
39 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4374238 rs139618259 |
39 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767495591 CA163207933 |
43 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767495591 CA368458563 |
43 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374237 rs767495591 |
43 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374236 rs768405688 |
44 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163207928 rs768405688 |
44 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368458556 rs768405688 |
44 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163207924 rs934444258 |
45 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs772362915 CA4374234 |
45 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374232 rs746378111 |
46 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746378111 CA368458497 |
46 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374231 rs779459893 |
47 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA368458477 rs1194997255 |
47 | A>V | No |
ClinGen gnomAD |
|
|
CA368458332 rs749432432 |
51 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749432432 CA4374228 |
51 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374227 rs777681075 |
53 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs373899409 CA4374225 |
55 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336566233 CA368458223 |
55 | V>L | No |
ClinGen gnomAD |
|
|
CA4374223 rs147404515 |
57 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368458075 rs750239872 |
59 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750239872 CA4374222 |
59 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368458001 rs1469703007 |
62 | L>V | No |
ClinGen gnomAD |
|
|
rs1262594731 CA368457901 |
65 | S>P | No |
ClinGen gnomAD |
|
|
rs377675690 CA4374220 |
66 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1488836 CA4374218 rs374121810 |
72 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374121810 CA4374219 |
72 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760332743 CA368457662 |
72 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760332743 CA4374217 |
72 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA830448632 rs1444711766 |
73 | Y>* | No |
ClinGen TOPMed |
|
|
CA4374215 rs771708499 |
74 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759948279 CA4374213 |
74 | A>V | No |
ClinGen ExAC |
|
|
CA368457591 rs1415945753 |
75 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4374211 rs771505430 |
76 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs749715397 CA4374210 |
77 | F>L | No |
ClinGen ExAC |
|
|
CA368457530 rs777934042 |
78 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4374208 rs777934042 |
78 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs370102675 CA4374206 |
80 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368457471 rs1279050117 |
80 | A>V | No |
ClinGen gnomAD |
|
|
CA368457454 rs1446358976 |
81 | V>A | No |
ClinGen TOPMed |
|
|
rs369786811 CA4374204 |
81 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4374205 rs369786811 |
81 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1452429704 CA368457438 |
82 | Q>E | No |
ClinGen gnomAD |
|
|
rs11552039 CA163207705 |
82 | Q>P | No |
ClinGen TOPMed |
|
|
rs11552039 CA368457428 |
82 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 83 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401798818 CA368457408 |
83 | E>D | No |
ClinGen gnomAD |
|
|
CA4374202 rs750293160 |
83 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4374198 rs774309853 |
86 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4374199 rs753658181 |
86 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760244695 CA4374197 |
87 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA368457296 rs1235529429 |
89 | K>E | No |
ClinGen gnomAD |
|
|
CA4374195 rs73395957 |
90 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368457268 rs73395957 |
90 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767202350 CA368457250 |
91 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374194 rs767202350 |
91 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368457236 rs936308465 |
92 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs936308465 CA163207649 |
92 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs926391921 CA163207645 |
92 | E>V | No |
ClinGen Ensembl |
|
|
rs762433680 CA4374124 |
93 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs561088482 CA368457062 |
93 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561088482 CA4374125 |
93 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4374122 rs764691803 |
95 | N>K | No |
ClinGen ExAC |
|
|
CA4374119 rs549834117 |
97 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879008992 CA368456986 |
97 | D>H | No |
ClinGen TOPMed |
|
|
rs879008992 CA163207284 |
97 | D>N | No |
ClinGen TOPMed |
|
|
rs879008992 CA4374120 |
97 | D>Y | No |
ClinGen TOPMed |
|
|
CA4374116 rs746058243 |
100 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150084480 CA4374114 |
101 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368456866 rs1297239755 |
102 | Y>S | No |
ClinGen TOPMed |
|
|
CA4374112 rs781176434 |
103 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1399202232 CA368456830 |
103 | I>M | No |
ClinGen gnomAD |
|
|
rs746554110 CA368456797 |
104 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374111 rs754933159 |
104 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4374109 rs779585700 |
105 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368456715 rs1410265715 |
106 | R>Q | No |
ClinGen gnomAD |
|
|
CA4374107 rs747113736 |
106 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374105 rs79616962 |
107 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201044553 CA163207225 |
108 | M>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4374104 rs369197206 |
108 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761214034 CA4374102 |
109 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761214034 CA368456598 |
109 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149343096 CA4374103 |
109 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368456587 rs752747070 |
110 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374101 rs752747070 |
110 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1309860432 CA368456541 |
111 | Q>R | No |
ClinGen gnomAD |
|
|
rs917630961 CA368456503 |
112 | R>G | No |
ClinGen TOPMed |
|
|
rs1384889153 CA368456483 |
112 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA163207205 rs917630961 |
112 | R>W | No |
ClinGen TOPMed |
|
|
rs1562898498 CA368456475 |
113 | S>I | No |
ClinGen Ensembl |
|
|
VAR_029243 RCV000958980 rs2307348 CA4374099 |
114 | R>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4374100 rs375263584 |
114 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302128303 CA368456229 |
118 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771138646 CA4374097 |
118 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302128303 CA368456245 |
118 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4374093 rs140737993 |
119 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4374094 rs200119844 |
119 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200119844 CA4374095 |
119 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4374096 rs200119844 |
119 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779455612 CA368456171 |
120 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374092 rs779455612 |
120 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771556191 CA368456162 |
120 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771556191 CA4374091 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745364621 CA4374090 |
121 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 123 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185797994 CA368456041 |
123 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756945134 CA4374088 |
126 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA163207116 rs185895499 |
126 | Y>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1215934717 CA368455834 |
128 | A>G | No |
ClinGen gnomAD |
|
|
rs754291531 CA4374087 |
128 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs181666859 CA4374086 |
129 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368455824 rs1358428239 |
129 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368455819 rs1488198371 |
130 | L>F | No |
ClinGen TOPMed |
|
|
rs1247727763 CA368455746 |
131 | M>I | No |
ClinGen gnomAD |
|
|
rs756600896 CA4374085 |
131 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753188990 CA4374084 |
132 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374083 rs767497861 |
132 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753188990 CA368455736 |
132 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368455714 rs1410990913 |
133 | R>G | No |
ClinGen TOPMed |
|
|
rs766410639 CA4374062 |
134 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163207101 rs1002360932 |
134 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368455361 rs1477142409 |
137 | Y>H | No |
ClinGen gnomAD |
|
|
rs1054083917 CA163206994 |
139 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs990447174 CA163206989 |
140 | G>D | No |
ClinGen TOPMed |
|
|
rs763804358 CA163206976 |
141 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763804358 CA4374059 |
141 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201758962 CA163206981 |
141 | P>S | No |
ClinGen Ensembl |
|
|
CA4374058 rs375675417 |
142 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4374057 rs775122706 |
143 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1217885980 CA368454983 |
144 | N>K | No |
ClinGen gnomAD |
|
|
CA4374056 VAR_013297 rs2070215 |
144 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs549764255 CA4374055 COSM748252 |
147 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs774020901 CA163206942 |
147 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374054 rs774020901 |
147 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368454823 rs531476711 |
150 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4374051 rs772981794 |
150 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs531476711 CA4374052 |
150 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA368454765 rs1584494883 |
151 | E>A | No |
ClinGen Ensembl |
|
|
COSM1550672 rs748597030 CA4374049 |
153 | R>Q | lung Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs150260409 CA4374050 |
153 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755511388 CA4374047 |
154 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA368454636 rs1177950326 |
155 | D>E | No |
ClinGen gnomAD |
|
|
rs779537583 CA4374046 |
155 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940557693 CA163206898 |
158 | G>E | No |
ClinGen Ensembl |
|
|
CA368454566 rs1196235651 |
159 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA368454583 rs1244371305 |
159 | K>R | No |
ClinGen TOPMed |
|
|
CA4374043 rs780124484 |
161 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765543234 CA4374040 |
164 | R>C | No |
ClinGen ExAC |
|
|
COSM1488835 CA4374036 rs755514827 |
164 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755514827 CA4374037 |
164 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374039 rs765543234 |
164 | R>S | No |
ClinGen ExAC |
|
|
CA368454422 rs1456366130 |
165 | G>E | No |
ClinGen gnomAD |
|
|
CA4374033 rs774362954 |
167 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584494767 CA368454361 |
168 | T>A | No |
ClinGen Ensembl |
|
|
CA368454354 rs1273180257 |
168 | T>I | No |
ClinGen gnomAD |
|
|
CA4374032 rs766413719 |
169 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs766413719 CA368454353 |
169 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs567224279 CA4374031 |
169 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4374030 rs370870015 |
170 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769527590 CA4374029 |
173 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368454229 rs1400812423 |
174 | K>N | No |
ClinGen gnomAD |
|
|
rs1414412293 CA368454243 |
174 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368454173 rs1177756075 |
177 | M>T | No |
ClinGen gnomAD |
|
|
rs747714898 CA4374028 |
177 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs953300435 CA163206834 |
178 | V>M | No |
ClinGen TOPMed |
|
|
rs1244747423 CA368454137 |
179 | V>L | No |
ClinGen gnomAD |
|
|
CA368454091 rs1297231558 |
180 | A>V | No |
ClinGen Ensembl |
|
|
CA12617104 rs768954906 |
182 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921828744 CA163206827 |
183 | T>S | No |
ClinGen TOPMed |
|
|
CA368453902 rs780607612 CA368453898 |
186 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584494642 CA368453876 |
187 | C>W | No |
ClinGen Ensembl |
|
|
rs758877589 CA4374022 |
189 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4374020 rs778814700 |
191 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA368453770 rs1285180364 |
191 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1285180364 CA368453772 |
191 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757519087 CA4374019 |
192 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4374018 rs753949187 |
192 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA4374017 rs781137781 |
194 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368453692 rs1360757902 |
194 | P>S | No |
ClinGen gnomAD |
|
|
rs775851630 CA4373984 |
195 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA368452421 rs200625974 |
198 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1584494050 CA368452402 |
198 | P>L | No |
ClinGen Ensembl |
|
|
CA163206518 rs200625974 |
198 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA368452389 rs1219730139 |
199 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4373983 rs138501873 |
199 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1276998566 CA368452319 |
200 | F>C | No |
ClinGen gnomAD |
|
|
CA4373981 CA368452311 rs774787333 |
200 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369285286 CA368452250 |
201 | M>I | No |
ClinGen gnomAD |
|
|
CA4373979 rs149181091 |
202 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4373980 rs771454166 |
202 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1333159915 CA368452204 |
204 | I>F | No |
ClinGen gnomAD |
|
|
rs779913239 CA4373975 |
205 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4373976 rs748332749 |
205 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748332749 CA4373977 |
205 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373978 rs145784812 |
205 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368452082 rs1481354122 |
207 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs199668898 CA4373974 |
207 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4373973 rs745676123 |
209 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373972 rs778775914 |
209 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368451854 rs1234931741 |
213 | T>S | No |
ClinGen gnomAD |
|
|
CA4373971 rs757198963 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373970 rs376400426 |
215 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306989410 CA368451780 |
218 | G>R | No |
ClinGen TOPMed |
|
|
CA163206486 rs988563006 |
219 | R>Q | No |
ClinGen Ensembl |
|
|
CA368451756 rs1468156203 |
219 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1206127645 CA368451696 |
222 | L>R | No |
ClinGen gnomAD |
|
|
rs1218239596 CA368451614 |
224 | T>P | No |
ClinGen gnomAD |
|
|
CA4373966 rs146605550 |
225 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752275987 CA4373967 |
225 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4373963 CA4373964 rs766833790 |
229 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222332604 CA368451358 |
233 | Q>R | No |
ClinGen gnomAD |
|
|
rs773449293 CA368451319 |
234 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763516072 CA4373962 |
234 | E>Q | No |
ClinGen ExAC |
|
|
rs769937272 CA4373959 |
235 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs748390138 CA4373958 |
237 | M>I | No |
ClinGen ExAC |
|
|
rs1179652557 CA368451239 |
237 | M>V | No |
ClinGen gnomAD |
|
|
CA4373957 rs372405932 |
238 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368450783 rs1214613441 |
241 | S>G | No |
ClinGen TOPMed |
|
|
CA368450704 rs1163221510 |
242 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368450648 rs750808300 |
243 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373924 rs750808300 |
243 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032993373 CA163206295 |
245 | P>A | No |
ClinGen TOPMed |
|
|
rs765896559 CA4373923 |
245 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA163206292 rs1032993373 |
245 | P>S | No |
ClinGen TOPMed |
|
|
rs140681459 CA163206286 |
246 | V>M | No |
ClinGen ESP |
|
|
rs762382239 CA4373922 |
247 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1584493366 CA368450543 |
248 | N>D | No |
ClinGen Ensembl |
|
|
CA4373921 rs753883354 |
249 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151163064 CA4373919 |
251 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368450402 rs151163064 |
251 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373918 rs775844303 |
251 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs572791096 CA4373917 |
252 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4373915 rs200587772 |
254 | T>M | Variant assessed as Somatic; 0.0006006 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs960892926 CA163206256 |
255 | V>M | No |
ClinGen Ensembl |
|
|
rs748071664 CA4373913 |
257 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368450211 rs748071664 |
257 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373910 rs746497141 |
258 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4373911 rs149023255 |
258 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368450204 rs1562897251 |
258 | E>K | No |
ClinGen Ensembl |
|
|
rs758105856 CA368450121 |
259 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4373908 rs758105856 |
259 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs779914765 CA4373909 |
259 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1584493289 CA368450043 |
261 | N>S | No |
ClinGen Ensembl |
|
|
CA163206227 rs983720010 |
263 | R>S | No |
ClinGen gnomAD |
|
|
CA4373904 rs757715836 |
265 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs144895979 CA4373902 |
269 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760863629 CA4373901 |
270 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA368449694 rs1211643312 |
270 | H>Y | No |
ClinGen gnomAD |
|
|
CA163206206 rs983730565 |
271 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1453371 CA4373897 rs778913504 COSM1453370 |
273 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1449555296 CA368449350 |
280 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs545585296 CA4373893 |
282 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4373892 rs139760215 |
282 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA163206184 rs139760215 |
282 | R>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA4373891 rs139603502 |
283 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771886050 CA4373890 |
283 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771886050 CA368449258 |
283 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377419864 CA4373888 |
287 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377419864 CA4373887 |
287 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373886 rs749600563 |
287 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA368449141 rs1562897104 |
288 | V>G | No |
ClinGen Ensembl |
|
|
CA368449131 rs1258312442 |
289 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA368449110 rs1258312442 |
289 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs372545391 CA4373885 |
290 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368449075 rs1331561585 |
290 | Q>R | No |
ClinGen TOPMed |
|
|
CA4373857 rs758521560 |
291 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196001974 CA368448940 |
291 | G>C | No |
ClinGen gnomAD |
|
|
rs753702178 CA4373854 |
293 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA163205948 rs964331581 |
293 | L>R | No |
ClinGen TOPMed |
|
|
CA4373853 rs763751375 |
295 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs760690865 CA4373852 |
298 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs866091810 CA163205932 |
300 | A>V | No |
ClinGen Ensembl |
|
|
rs1209720069 CA368448569 |
301 | H>Y | No |
ClinGen gnomAD |
|
|
rs767546167 CA4373850 |
302 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4373851 rs775630819 |
302 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373848 rs773701229 |
306 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA368448446 rs1340738637 |
306 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380555513 CA368448387 |
307 | N>T | No |
ClinGen gnomAD |
|
|
CA4373847 rs770646640 |
311 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1428243967 CA368448271 |
311 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1562896835 CA368448204 |
312 | D>A | No |
ClinGen Ensembl |
|
|
rs1375413651 CA368448116 |
314 | S>P | No |
ClinGen TOPMed |
|
|
CA4373845 rs61754762 |
316 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4373844 rs769987503 |
317 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4373843 rs748507775 |
318 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA163205904 rs748507775 |
318 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368447944 rs1363475981 |
320 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1184950621 CA368447936 |
320 | T>S | No |
ClinGen gnomAD |
|
|
rs769130667 CA4373841 |
322 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA368447813 rs749377291 CA368447819 |
323 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA368447851 rs1247621673 |
323 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1198657506 CA368447823 |
323 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368447803 rs1467516333 |
324 | L>P | No |
ClinGen gnomAD |
|
|
rs150842015 CA4373840 |
327 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373839 rs779960638 |
328 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373838 rs758673969 |
328 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1296508100 CA368446995 |
329 | E>V | No |
ClinGen gnomAD |
|
|
CA368446968 rs1450375843 |
331 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4373816 rs531721476 |
332 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4373815 rs561232198 |
333 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781082655 CA4373813 |
334 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368446916 rs1159679021 |
336 | L>M | No |
ClinGen gnomAD |
|
|
CA163205807 rs930782118 |
337 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369264509 CA4373812 |
338 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373811 rs369264509 |
338 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163205806 rs920872374 |
338 | A>V | No |
ClinGen gnomAD |
|
|
CA4373810 rs766336513 |
340 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1093956 COSM1093955 CA4373808 rs749928037 |
341 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs11552036 CA163205800 |
344 | I>T | No |
ClinGen Ensembl |
|
|
CA163205789 rs761417773 |
345 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373807 rs764911726 |
345 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373805 rs777004718 |
346 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368446820 rs1584492248 |
346 | G>R | No |
ClinGen Ensembl |
|
|
rs1298167671 CA368446792 |
347 | H>P | No |
ClinGen TOPMed |
|
|
rs761253047 CA4373803 |
348 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761253047 CA368446779 |
348 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs61752702 CA4373802 |
349 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368446727 rs1562896545 |
352 | K>E | No |
ClinGen Ensembl |
|
|
rs1302330584 CA368446706 |
353 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1302330584 CA368446710 |
353 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA368446671 rs1413141168 |
355 | L>P | No |
ClinGen gnomAD |
|
|
CA4373800 COSM1214732 rs745971347 COSM1214733 |
356 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1323344207 CA368446648 |
356 | L>P | No |
ClinGen TOPMed |
|
|
rs5023661 CA163205746 |
358 | L>R | No |
ClinGen Ensembl |
|
|
rs1367092407 CA368446596 |
359 | V>G | No |
ClinGen gnomAD |
|
|
COSM1093952 CA4373795 COSM1093951 rs754886665 |
360 | G>E | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4373796 COSM253270 rs781137780 COSM253271 |
360 | G>R | kidney ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4373794 rs202139377 |
361 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4373793 rs779905639 |
361 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368446567 rs779905639 |
361 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1216888855 | 361 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368446564 rs1485388513 |
362 | V>M | No |
ClinGen gnomAD |
|
|
rs1258763136 CA368446502 |
364 | Q>* | No |
ClinGen gnomAD |
|
|
CA368446488 rs1223633531 |
365 | S>P | No |
ClinGen gnomAD |
|
|
rs1322308310 CA368446455 |
366 | P>L | No |
ClinGen gnomAD |
|
|
CA4373792 rs758325786 |
367 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749934918 CA4373791 |
367 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368446438 rs1231603998 |
368 | G>A | No |
ClinGen gnomAD |
|
|
rs1342460213 CA368446420 |
369 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764680375 CA4373790 |
370 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012832214 CA163205702 |
371 | I>M | No |
ClinGen TOPMed |
|
|
CA163205691 rs879207105 |
372 | R>Q | No |
ClinGen Ensembl |
|
|
rs1332080071 CA368446382 |
372 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368446364 rs1584492022 |
373 | G>R | No |
ClinGen Ensembl |
|
|
CA368446278 rs1330401943 |
374 | N>H | No |
ClinGen TOPMed |
|
|
rs766979708 CA4373761 |
376 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378369441 CA368446227 |
376 | N>S | No |
ClinGen gnomAD |
|
|
rs1393713402 CA368446211 |
377 | I>S | No |
ClinGen gnomAD |
|
|
rs1390245646 CA368446216 |
377 | I>V | No |
ClinGen gnomAD |
|
|
rs773395941 CA4373759 |
378 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA163205413 rs370111245 |
383 | P>A | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 384 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163205405 rs537345810 |
384 | G>S | No |
ClinGen gnomAD |
|
|
CA368446081 rs1364377517 |
385 | V>M | No |
ClinGen gnomAD |
|
|
CA163205385 COSM3833666 rs774774371 COSM3833665 |
389 | Q>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs762048183 CA4373755 |
390 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775163648 CA4373754 |
393 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs142804258 CA4373751 |
394 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373752 rs745661203 |
394 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368445926 rs1279428127 |
395 | D>G | No |
ClinGen gnomAD |
|
|
CA4373750 COSM1214729 COSM1214728 rs770821365 |
396 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4373749 rs748824587 |
396 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368445895 rs748824587 |
396 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368445873 rs1314304859 |
397 | L>P | No |
ClinGen gnomAD |
|
|
rs375752113 CA368445854 |
398 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752326377 CA4373746 |
398 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373745 rs375752113 |
398 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM748255 CA4373742 rs751951140 COSM748256 |
400 | R>C | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs767033273 CA4373741 |
400 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA368445821 rs1370236046 |
401 | S>C | No |
ClinGen gnomAD |
|
|
CA4373703 rs769596170 |
402 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4373702 rs371562674 |
403 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927476958 CA163203104 |
404 | T>S | No |
ClinGen Ensembl |
|
|
rs1254614081 CA368444910 |
405 | T>I | No |
ClinGen TOPMed |
|
|
CA368444892 rs535632318 |
407 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs981979004 CA163203101 |
407 | R>Q | No |
ClinGen TOPMed |
|
|
CA4373700 rs535632318 |
407 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780573339 CA4373698 |
411 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA368444820 rs780573339 |
411 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA163203095 rs867337591 |
412 | V>A | No |
ClinGen gnomAD |
|
|
rs1212467620 CA368444783 |
414 | L>R | No |
ClinGen gnomAD |
|
|
rs746208805 CA4373696 |
415 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368444715 rs764097702 |
417 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4373691 rs764097702 |
417 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4373690 rs756344140 |
419 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs546898445 CA4373689 |
420 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368444660 rs1372158635 |
421 | D>E | No |
ClinGen TOPMed |
|
|
rs1327038540 CA368444666 |
421 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1584489431 CA368444671 |
421 | D>H | No |
ClinGen Ensembl |
|
|
rs767723414 CA4373688 |
422 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA368444642 rs1180727731 |
422 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs150102789 CA4373686 |
423 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4373685 rs150102789 |
423 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382772331 CA368444561 |
426 | E>Q | No |
ClinGen gnomAD |
|
|
CA4373682 rs267601668 |
428 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA368444464 rs1486478063 |
430 | E>D | No |
ClinGen gnomAD |
|
|
CA4373680 rs775346451 |
431 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA368444443 rs1209982956 |
432 | G>V | No |
ClinGen gnomAD |
|
|
rs1224291267 CA368444436 |
433 | A>D | No |
ClinGen gnomAD |
|
|
rs771816250 CA163203065 |
433 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771816250 CA4373679 |
433 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368444438 rs771816250 |
433 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277893669 CA368444341 |
439 | Q>* | No |
ClinGen gnomAD |
|
|
CA4373677 rs552141377 |
439 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552141377 CA4373678 |
439 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1282040880 CA368444301 |
441 | V>M | No |
ClinGen gnomAD |
|
|
rs1016677319 CA163203056 |
443 | C>R | No |
ClinGen Ensembl |
|
|
rs1347341266 CA368444235 |
443 | C>Y | No |
ClinGen gnomAD |
|
|
CA163203052 rs150968866 |
447 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368444154 rs1437494458 |
447 | F>Y | No |
ClinGen TOPMed |
|
|
CA368444060 rs1406583255 |
450 | M>I | No |
ClinGen gnomAD |
|
|
CA4373671 rs781443043 |
453 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755105959 CA4373670 |
454 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750263017 COSM3412582 COSM3412581 CA4373669 |
455 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747875490 CA163203042 |
455 | R>H | No |
ClinGen gnomAD |
|
|
CA163203040 rs1029502829 |
456 | T>A | No |
ClinGen Ensembl |
|
|
rs998406139 CA163203038 |
457 | A>G | No |
ClinGen gnomAD |
|
|
rs1484537357 CA368443929 |
457 | A>T | No |
ClinGen gnomAD |
|
|
CA4373668 rs764872194 |
458 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA368443846 rs1235287672 |
461 | V>I | No |
ClinGen gnomAD |
|
|
CA4373666 rs368883170 |
462 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 466 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289870325 CA368443680 |
469 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368443661 rs1443518638 |
470 | A>D | No |
ClinGen TOPMed |
|
|
rs1562894744 CA368443644 |
471 | K>R | No |
ClinGen Ensembl |
|
|
CA4373663 rs78348776 |
472 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867134649 CA163203022 |
473 | G>D | No |
ClinGen Ensembl |
|
|
RCV000880610 VAR_014817 rs2307347 RCV002249568 CA4373660 |
473 | G>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1584489138 CA368443592 |
476 | T>P | No |
ClinGen Ensembl |
|
|
CA368443543 rs1400549153 |
480 | A>T | No |
ClinGen gnomAD |
|
|
rs771259725 CA4373658 |
480 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770263756 CA4373655 |
481 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4373654 rs748250063 |
481 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770263756 CA4373656 |
481 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240218162 CA368443461 |
487 | A>S | No |
ClinGen gnomAD |
|
|
rs1335504725 CA368443453 |
488 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1584489079 CA368443439 |
489 | N>T | No |
ClinGen Ensembl |
|
|
CA368443415 rs1189370319 |
491 | A>V | No |
ClinGen TOPMed |
|
|
rs374478251 CA163203009 |
492 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751673296 CA4373651 |
492 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs746557131 CA4373649 |
494 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753652322 CA4373648 |
494 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752264059 CA4373646 |
495 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4373643 rs759076249 |
497 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312684478 CA4373641 |
498 | R>C | No |
ClinGen TOPMed |
|
|
CA368443339 rs1240354024 |
498 | R>H | No |
ClinGen gnomAD |
|
|
rs773944238 CA4373640 |
499 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4373639 rs770587656 |
499 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368443326 rs1447453302 |
500 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368443320 rs1417177186 |
500 | S>T | No |
ClinGen TOPMed |
|
|
CA368443312 rs1313547431 |
501 | L>V | No |
ClinGen TOPMed |
|
|
rs1427643410 CA368443283 |
503 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA368443285 rs1170715046 |
503 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763358687 COSM485826 CA4373638 COSM485827 |
505 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773516303 CA4373637 |
506 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773516303 CA368443249 |
506 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1272200166 CA368443246 |
506 | Q>R | No |
ClinGen TOPMed |
|
|
rs375792821 CA4373636 |
508 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373634 rs375792821 |
508 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375792821 CA4373635 |
508 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373630 rs780176442 |
514 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs996364499 CA368443155 |
516 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs996364499 CA163202977 |
516 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368443159 rs1306141403 |
516 | D>N | No |
ClinGen gnomAD |
|
|
rs145002419 CA4373629 |
517 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777649347 CA368443124 |
519 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs777649347 CA4373626 |
519 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs756137873 CA4373625 |
520 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1461206740 CA368443101 |
521 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4373624 rs139765463 |
522 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368443087 rs1173340404 |
522 | Q>H | No |
ClinGen TOPMed |
|
|
CA368443076 rs1175343913 |
523 | D>V | No |
ClinGen gnomAD |
|
|
CA4373623 rs777461707 |
524 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941062855 CA163202967 |
524 | R>W | Variant assessed as Somatic; 5.913e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1420903400 CA368443057 |
525 | P>L | No |
ClinGen gnomAD |
|
|
COSM1453363 COSM1453362 rs765971073 CA4373620 |
526 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1093948 COSM1093947 rs76705400 CA4373618 |
527 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4373617 rs76705400 |
527 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1313504 rs762150483 CA4373615 COSM1313503 |
527 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs557217770 CA4373613 |
528 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4373612 rs142740597 |
529 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368443019 rs1241836573 |
530 | D>N | No |
ClinGen gnomAD |
|
|
CA368442995 rs139535707 |
532 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373609 rs139535707 |
532 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373610 COSM1673357 COSM1673356 rs775586840 |
532 | R>W | ovary Variant assessed as Somatic; 0.0002157 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1223329446 CA368442923 |
535 | Q>* | No |
ClinGen gnomAD |
|
|
CA368442925 rs1223329446 |
535 | Q>E | No |
ClinGen gnomAD |
|
|
rs1229253916 CA368442917 |
535 | Q>L | No |
ClinGen gnomAD |
|
|
CA368442909 rs1326819791 |
536 | H>Y | No |
ClinGen gnomAD |
|
|
rs12267 CA368442889 |
537 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1396761378 CA368442893 |
537 | I>T | No |
ClinGen gnomAD |
|
|
CA4373581 rs757968353 |
537 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1584488007 CA368442887 |
538 | T>P | No |
ClinGen Ensembl |
|
|
rs1461113309 CA368442881 |
538 | T>S | No |
ClinGen gnomAD |
|
|
rs1271715881 CA368442868 |
539 | Y>* | No |
ClinGen gnomAD |
|
|
rs778583017 CA4373579 |
539 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756852194 CA4373578 |
540 | V>M | No |
ClinGen ExAC |
|
|
rs754180945 CA4373577 |
541 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs922254246 CA163202782 |
543 | H>Y | No |
ClinGen gnomAD |
|
|
CA368442834 rs1584487944 |
544 | S>T | No |
ClinGen Ensembl |
|
|
CA368442825 rs1470260847 |
545 | R>Q | No |
ClinGen gnomAD |
|
|
rs764448908 CA4373576 |
545 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373575 rs760938229 |
546 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753317834 CA4373574 |
548 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373573 rs768108788 |
548 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768108788 CA368442798 |
548 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753317834 CA163202769 |
548 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368442800 rs753317834 |
548 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002645151 CA163202759 |
551 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1373186677 CA368442743 |
553 | P>A | No |
ClinGen gnomAD |
|
|
CA368442725 rs1281284359 |
555 | D>A | No |
ClinGen TOPMed |
|
|
CA4373568 rs759893647 |
556 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373569 rs774524488 |
556 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs936469497 CA163202746 |
558 | L>F | No |
ClinGen Ensembl |
|
|
rs755556849 CA4373534 |
561 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752169854 COSM1093946 COSM1093945 CA4373533 |
561 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA368441786 rs752169854 |
561 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4373532 rs766988175 |
562 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1266362008 CA368441731 |
563 | I>T | No |
ClinGen gnomAD |
|
|
CA4373530 rs375165620 |
563 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs188207700 CA4373527 |
565 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA4373528 rs761899310 |
565 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs767238819 CA368441671 |
566 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373526 rs767238819 |
566 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373525 rs759325190 |
566 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs28665367 CA4373522 |
567 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs28665367 CA4373524 |
567 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4373521 rs565560209 |
567 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4373520 rs565560209 |
567 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs28665367 CA4373523 |
567 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755459964 CA4373517 |
568 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA4373516 rs747345913 |
569 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544161945 CA4373513 |
572 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758780983 CA4373514 |
572 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs765160833 CA4373512 |
573 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs757479470 CA4373511 |
574 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4373509 rs764274028 |
575 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA368441515 rs1421429611 |
575 | E>Q | No |
ClinGen gnomAD |
|
|
rs754114342 CA4373510 |
575 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4373508 rs143337655 |
576 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778437475 CA163201956 |
578 | A>G | No |
ClinGen Ensembl |
|
|
CA368441471 rs1219684473 |
578 | A>T | No |
ClinGen gnomAD |
|
|
rs1562892737 CA368441432 |
579 | D>E | No |
ClinGen Ensembl |
|
|
CA368441422 rs1309597074 |
580 | Y>H | No |
ClinGen gnomAD |
|
|
rs751309858 CA4373506 |
581 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA368441400 rs1296799025 |
581 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA163201954 rs185060588 |
582 | T>I | No |
ClinGen 1000Genomes |
|
|
CA368441366 rs1363725485 |
583 | A>V | No |
ClinGen gnomAD |
|
| rs1562892704 | 585 | Y>* | No | Ensembl | |
|
CA368441322 rs1442398352 |
585 | Y>C | No |
ClinGen gnomAD |
|
|
rs772794463 CA368441298 |
586 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772794463 CA4373503 |
586 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368441255 rs1356040291 |
588 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4373500 rs561439468 |
590 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1214730 CA4373499 COSM1214731 rs368449945 |
590 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
RCV000954680 rs149624106 CA4373498 |
591 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1177281584 CA368441166 |
591 | E>Q | No |
ClinGen TOPMed |
|
|
CA368441144 rs1455886091 |
592 | A>T | No |
ClinGen TOPMed |
|
|
CA4373497 rs780238589 |
592 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA368441070 rs1318257570 |
594 | A>V | No |
ClinGen TOPMed |
|
|
rs746298692 CA4373495 |
596 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4373494 rs779459025 |
597 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs374258890 CA4373493 |
598 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163201937 rs867898399 |
599 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4373492 rs753894870 |
599 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777997937 CA4373491 |
600 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373489 rs751375772 |
601 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373490 rs751375772 |
601 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373488 rs766030828 |
602 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA163201927 rs766030828 |
602 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA368440913 rs766030828 |
602 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762797766 CA4373487 |
603 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372366514 CA4373486 |
604 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368440879 rs1562892598 |
604 | R>Q | No |
ClinGen Ensembl |
|
|
CA4373485 rs372366514 |
604 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs984457335 CA163201921 |
605 | T>I | No |
ClinGen TOPMed |
|
|
CA368440789 COSM1187386 COSM1187385 rs1270400912 |
609 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4373483 COSM1214734 rs776231972 COSM1214735 |
611 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA163201901 rs1026733640 |
614 | T>A | No |
ClinGen TOPMed |
|
|
CA368440670 rs1196928816 |
614 | T>I | No |
ClinGen gnomAD |
|
|
rs1453856542 CA368440657 |
615 | A>S | No |
ClinGen TOPMed |
|
|
rs1584485492 CA368440637 |
615 | A>V | No |
ClinGen Ensembl |
|
|
rs1252743154 CA368440635 |
616 | L>V | No |
ClinGen gnomAD |
|
|
CA4373306 rs759374940 |
618 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766322249 CA4373304 |
618 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766322249 CA4373305 |
618 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584483197 CA368439134 |
621 | M>T | No |
ClinGen Ensembl |
|
|
CA163201110 rs772312897 |
621 | M>V | No |
ClinGen Ensembl |
|
|
rs762392229 CA4373302 |
622 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4373299 rs761501494 |
624 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4373300 rs377697159 |
624 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1584483164 CA368438993 |
625 | V>A | No |
ClinGen Ensembl |
|
|
CA163201063 rs566696395 |
625 | V>M | No |
ClinGen 1000Genomes |
|
|
CA163201061 rs74376856 |
626 | E>G | No |
ClinGen Ensembl |
|
|
CA163201047 rs943134225 |
628 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 628 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269712610 | 628 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 628 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772581824 CA4373294 |
631 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA368438773 rs772581824 |
631 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1182781570 CA368438650 |
633 | A>G | No |
ClinGen TOPMed |
|
|
rs141088317 CA4373293 |
633 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778895898 CA4373292 |
634 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1199169001 CA368438635 |
634 | I>V | No |
ClinGen gnomAD |
|
|
CA368438554 rs1266576361 |
637 | M>K | No |
ClinGen gnomAD |
|
|
CA368438553 rs1266576361 |
637 | M>T | No |
ClinGen gnomAD |
|
|
CA368438556 rs1461832595 |
637 | M>V | No |
ClinGen Ensembl |
|
|
CA368438487 rs1207200098 |
639 | M>I | No |
ClinGen gnomAD |
|
|
CA4373291 rs757317914 |
640 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1212827577 CA368438318 |
643 | S>P | No |
ClinGen gnomAD |
|
|
CA4373288 rs751324812 CA4373287 |
646 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4373285 rs758347168 |
650 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA368438124 rs1310309848 |
650 | Q>H | No |
ClinGen gnomAD |
|
|
rs1410830818 CA368438096 |
651 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4373258 rs549685045 |
654 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4373257 rs759864688 |
655 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163200710 rs1130958 |
656 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368437814 rs1379658903 |
656 | R>T | No |
ClinGen gnomAD |
|
|
rs1314985449 CA368437803 |
657 | P>A | No |
ClinGen gnomAD |
|
|
rs200258703 CA4373254 |
657 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368437785 rs1314985449 |
657 | P>S | No |
ClinGen gnomAD |
|
|
CA368437749 rs1379987739 |
658 | A>S | No |
ClinGen gnomAD |
|
|
CA368437738 rs1322110216 |
658 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 661 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769925624 CA4373251 |
661 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1156585253 CA368437574 |
663 | A>P | No |
ClinGen gnomAD |
|
|
CA163200687 rs886599354 |
664 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA368437552 rs1403183916 |
664 | T>N | No |
ClinGen TOPMed |
|
|
CA4373249 rs200255940 |
665 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772029319 CA4373248 |
666 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442827027 CA368437502 |
666 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs757220695 CA4373244 |
671 | G>E | No |
ClinGen ExAC |
|
|
CA4373242 rs532820415 |
673 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs532820415 CA368437350 |
673 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4373241 rs368686483 |
673 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755564244 CA4373240 |
674 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs767136635 CA4373238 |
675 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4373236 rs751881096 |
676 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368437277 rs1299257594 |
676 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 677 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368437199 rs1360767264 |
679 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs890234210 CA163200612 |
680 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 680 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766881090 CA368437136 |
681 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766881090 CA4373235 |
681 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368437065 rs151020548 CA4373233 |
682 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142607500 CA4373232 |
683 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373231 rs761764851 |
683 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368437033 rs148883727 |
685 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4373229 rs148883727 |
685 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368437017 rs1193179271 |
686 | S>F | No |
ClinGen gnomAD |
|
|
CA368437023 rs1417581505 |
686 | S>P | No |
ClinGen gnomAD |
|
|
rs146568179 CA4373226 |
687 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4373225 rs749304759 |
687 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 688 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 688 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368436952 rs1227456011 |
690 | T>I | No |
ClinGen gnomAD |
|
|
CA4373223 rs755700140 |
690 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs577254709 CA4373222 |
691 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573331867 CA368436936 |
692 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573331867 CA4373220 |
692 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1345900795 CA368436922 |
693 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA368436900 rs1302388595 |
693 | Q>H | No |
ClinGen gnomAD |
|
|
rs751938080 CA4373219 |
694 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368436883 rs1372271608 |
695 | Q>* | No |
ClinGen gnomAD |
|
|
rs766789522 CA4373218 |
695 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1804099 CA163200505 |
696 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368436717 rs540489715 |
701 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1180646503 CA368436707 |
702 | E>* | No |
ClinGen gnomAD |
|
|
CA368436716 rs1180646503 |
702 | E>K | No |
ClinGen gnomAD |
|
|
CA163200457 rs776808804 |
703 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 703 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776808804 CA4373212 |
703 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761970755 CA368436687 |
703 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761970755 CA4373213 |
703 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368049768 CA163200450 |
704 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA4373211 rs764415680 |
705 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs15015 CA163200444 |
706 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4373210 rs15015 |
706 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 707 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4373208 rs375140364 |
708 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4373209 rs775840928 |
708 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584481919 CA368436550 |
709 | V>G | No |
ClinGen Ensembl |
|
|
rs773224911 CA4373206 |
710 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373202 rs780627959 |
713 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370572012 CA4373203 |
713 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201314873 CA163200391 |
714 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4373198 rs758843798 |
715 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4373199 rs779652659 |
715 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765799672 CA4373196 CA368436366 |
718 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs913351380 CA163200374 |
718 | F>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with P33993
6 regional properties for P33993
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | MCM domain | 322 - 541 | IPR001208 |
| domain | AAA+ ATPase domain | 373 - 526 | IPR003593 |
| conserved_site | Mini-chromosome maintenance, conserved site | 440 - 448 | IPR018525 |
| domain | MCM N-terminal domain | 10 - 139 | IPR027925 |
| domain | MCM OB domain | 149 - 278 | IPR033762 |
| domain | MCM, AAA-lid domain | 558 - 640 | IPR041562 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.12 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| CMG complex | A protein complex that contains the GINS complex, Cdc45p, and the heterohexameric MCM complex, and that is involved in unwinding DNA during replication. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| MCM complex | A hexameric protein complex required for the initiation and regulation of DNA replication. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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 hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to epidermal growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus. |
| cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| DNA replication initiation | The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate. |
| DNA strand elongation involved in DNA replication | The process in which an existing DNA strand is extended by activities including the addition of nucleotides to the 3' end of the strand, complementary to an existing template, as part of DNA replication. |
| DNA unwinding involved in DNA replication | The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication. |
| double-strand break repair via break-induced replication | The error-free repair of a double-strand break in DNA in which the centromere-proximal end of a broken chromosome searches for a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template, and progresses to the end of the chromosome. |
| regulation of DNA-templated DNA replication initiation | Any process that modulates the frequency, rate or extent of initiation of DNA-dependent DNA replication; the process in which DNA becomes competent to replicate. In eukaryotes, replication competence is established in early G1 and lost during the ensuing S phase. |
| regulation of phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3ZBH9 | MCM7 | DNA replication licensing factor MCM7 | Bos taurus (Bovine) | PR |
| Q9XYU0 | Mcm7 | DNA replication licensing factor Mcm7 | Drosophila melanogaster (Fruit fly) | PR |
| P49736 | MCM2 | DNA replication licensing factor MCM2 | Homo sapiens (Human) | PR |
| Q14566 | MCM6 | DNA replication licensing factor MCM6 | Homo sapiens (Human) | PR |
| Q61881 | Mcm7 | DNA replication licensing factor MCM7 | Mus musculus (Mouse) | PR |
| Q6NX31 | mcm7 | DNA replication licensing factor mcm7 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALKDYALEK | EKVKKFLQEF | YQDDELGKKQ | FKYGNQLVRL | AHREQVALYV | DLDDVAEDDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELVDSICENA | RRYAKLFADA | VQELLPQYKE | REVVNKDVLD | VYIEHRLMME | QRSRDPGMVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPQNQYPAEL | MRRFELYFQG | PSSNKPRVIR | EVRADSVGKL | VTVRGIVTRV | SEVKPKMVVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TYTCDQCGAE | TYQPIQSPTF | MPLIMCPSQE | CQTNRSGGRL | YLQTRGSRFI | KFQEMKMQEH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SDQVPVGNIP | RSITVLVEGE | NTRIAQPGDH | VSVTGIFLPI | LRTGFRQVVQ | GLLSETYLEA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HRIVKMNKSE | DDESGAGELT | REELRQIAEE | DFYEKLAASI | APEIYGHEDV | KKALLLLLVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GVDQSPRGMK | IRGNINICLM | GDPGVAKSQL | LSYIDRLAPR | SQYTTGRGSS | GVGLTAAVLR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DSVSGELTLE | GGALVLADQG | VCCIDEFDKM | AEADRTAIHE | VMEQQTISIA | KAGILTTLNA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RCSILAAANP | AYGRYNPRRS | LEQNIQLPAA | LLSRFDLLWL | IQDRPDRDND | LRLAQHITYV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HQHSRQPPSQ | FEPLDMKLMR | RYIAMCREKQ | PMVPESLADY | ITAAYVEMRR | EAWASKDATY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TSARTLLAIL | RLSTALARLR | MVDVVEKEDV | NEAIRLMEMS | KDSLLGDKGQ | TARTQRPADV |
| 670 | 680 | 690 | 700 | 710 | |
| IFATVRELVS | GGRSVRFSEA | EQRCVSRGFT | PAQFQAALDE | YEELNVWQVN | ASRTRITFV |