Q9Y5H3
PR
Gene name |
PCDHGA10 |
Protein name |
Protocadherin gamma-A10 |
Names |
PCDH-gamma-A10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56106 |
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 Q9Y5H3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5H3-F1 | Predicted | AlphaFoldDB |
786 variants for Q9Y5H3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs752788034 CA3474864 |
3 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs752788034 CA361508956 |
3 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752788034 CA361508959 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756252337 CA3474865 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 6 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3474867 rs749749411 |
7 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1063246 CA3474869 rs771456948 |
7 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3474868 rs771456948 |
7 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1429088178 CA361509120 |
8 | S>P | No |
ClinGen gnomAD |
|
|
COSM1063247 CA3474872 rs768256888 |
9 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs746209535 CA3474870 |
9 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs563279284 RCV000912014 CA3474874 |
11 | S>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
|
CA3474873 rs776330769 |
11 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs563279284 CA3474876 |
11 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1302496204 CA361509232 |
13 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 13 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3474878 rs762828191 |
14 | C>* | No |
ClinGen ExAC |
|
|
CA361509234 rs1363008017 |
14 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs911302272 CA128399311 |
16 | G>A | No |
ClinGen TOPMed |
|
|
CA361509265 rs1384304697 COSM287628 CA361509263 |
16 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated TOPMed gnomAD NCI-TCGA |
|
rs552225139 CA3474879 |
18 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552225139 CA3474880 |
18 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3474883 rs752909141 |
23 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756270877 CA3474884 |
25 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3474885 rs777964429 CA361509485 |
28 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474887 rs757876687 |
33 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753942667 CA3474886 |
33 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs937508313 CA128399383 |
38 | S>P | No |
ClinGen Ensembl |
|
|
CA3474891 rs772421197 |
43 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs780711139 CA3474892 |
44 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747758921 CA3474893 |
47 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1242969118 CA361509886 |
48 | F>L | No |
ClinGen TOPMed |
|
|
CA361509894 rs1388440893 |
49 | V>L | No |
ClinGen gnomAD |
|
|
rs1221252167 CA361509907 |
50 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3474895 rs200027912 |
51 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770842309 CA361509963 |
52 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770842309 CA3474897 |
52 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474896 rs762420040 |
52 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1317111249 CA361509975 |
53 | S>Y | No |
ClinGen gnomAD |
|
|
CA361510000 rs1561741680 |
54 | K>R | No |
ClinGen Ensembl |
|
|
rs1329158220 CA361510012 |
55 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361510036 rs1340781871 |
56 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 58 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361510054 rs1217580039 |
58 | L>P | No |
ClinGen gnomAD |
|
|
rs774333807 CA3474898 |
59 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA128399432 rs1046513869 |
64 | A>T | No |
ClinGen gnomAD |
|
|
rs1452603006 CA361510176 |
64 | A>V | No |
ClinGen gnomAD |
|
|
rs767278842 CA3474900 |
65 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752898022 CA3474901 |
66 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs752898022 CA3474903 |
66 | R>G | No |
ClinGen ExAC |
|
|
CA3474904 rs760934804 |
66 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3474905 rs528233301 |
67 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3474906 rs754034325 |
69 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1328460811 CA361510320 |
70 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA128399451 rs902208287 |
71 | V>D | No |
ClinGen Ensembl |
|
|
CA3474908 rs757396075 |
71 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373497766 CA361510347 |
72 | S>F | No |
ClinGen gnomAD |
|
|
CA3474910 rs370906684 |
72 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128399465 rs368142245 |
73 | R>G | No |
ClinGen ESP |
|
|
CA3474912 rs780416951 |
75 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372466798 CA128399480 |
78 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3474913 rs372466798 |
78 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3474916 rs755805602 |
80 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs777399697 CA3474917 |
81 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA128399494 rs893515703 |
81 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770419729 CA3474919 |
83 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138985917 RCV000894333 CA3474920 |
84 | R>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3474921 rs745782366 |
85 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361510572 rs1193674962 |
86 | G>D | No |
ClinGen TOPMed |
|
|
CA128399518 rs963192857 |
86 | G>R | No |
ClinGen TOPMed |
|
|
CA128399527 rs1018097924 |
87 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1018097924 CA361510589 |
87 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760538286 CA3474924 |
89 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs4912751 VAR_048566 CA3474923 |
89 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3474927 rs761986113 |
93 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951373990 CA128399555 |
94 | I>V | No |
ClinGen gnomAD |
|
|
rs1294898087 CA361510724 |
96 | R>G | No |
ClinGen gnomAD |
|
|
CA3474930 rs750915907 |
96 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3474929 rs750915907 |
96 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361510750 rs1589856379 |
98 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128399576 rs748662580 |
99 | L>F | No |
ClinGen Ensembl |
|
|
rs566734719 CA3474932 |
101 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537334679 CA361510786 |
102 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3474934 rs537334679 |
102 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3474935 rs184712199 |
104 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM283837 CA3474936 rs756751796 |
104 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA128399589 rs937434384 |
105 | R>Q | No |
ClinGen Ensembl |
|
|
CA3474938 rs778441176 |
107 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1486431 CA3474937 rs778441176 |
107 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1187570193 CA361510863 |
108 | V>G | No |
ClinGen gnomAD |
|
|
rs772110374 CA3474939 |
109 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422297029 CA361510869 |
109 | S>R | No |
ClinGen gnomAD |
|
|
CA128399593 rs992096722 |
111 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3474940 rs372002880 |
112 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369472337 CA361510911 |
113 | L>P | No |
ClinGen gnomAD |
|
|
rs1434889011 CA361510914 |
114 | V>M | No |
ClinGen gnomAD |
|
|
rs974996251 CA128399594 |
115 | E>K | No |
ClinGen TOPMed |
|
|
CA128399597 rs772774054 |
117 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772774054 CA3474941 |
117 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768496934 CA361510956 |
118 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768496934 CA3474942 |
118 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs879218343 CA128399613 |
119 | K>E | No |
ClinGen Ensembl |
|
|
CA361510972 rs1269070438 |
119 | K>N | No |
ClinGen TOPMed |
|
|
rs1472068242 CA361510970 |
119 | K>R | No |
ClinGen TOPMed |
|
|
CA3474943 rs777022301 |
120 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361511075 rs1270604020 |
127 | V>A | No |
ClinGen gnomAD |
|
|
rs762044373 CA3474944 |
130 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950241336 CA128399626 |
131 | N>S | No |
ClinGen Ensembl |
|
|
rs375156046 CA3474945 |
133 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3474947 rs762938003 |
134 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766930407 CA3474948 |
134 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3474950 rs759901330 |
139 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3474951 rs767830855 |
142 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474952 rs767830855 |
142 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561743581 CA361511246 |
143 | D>N | No |
ClinGen Ensembl |
|
|
CA3474954 rs756987695 |
144 | V>A | No |
ClinGen ExAC |
|
| TCGA novel | 144 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282180585 CA361511290 |
146 | I>T | No |
ClinGen gnomAD |
|
|
CA361511305 rs1352700514 |
147 | N>K | No |
ClinGen TOPMed |
|
|
rs1188549125 CA361511309 |
148 | E>A | No |
ClinGen gnomAD |
|
|
CA361511319 rs369411784 |
149 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3474955 rs369411784 |
149 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361511324 rs1454358985 |
150 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA361511322 rs1454358985 |
150 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3474957 rs757785567 |
151 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474959 rs746896115 |
152 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1330564050 CA361511349 |
153 | G>R | No |
ClinGen TOPMed |
|
|
CA3474960 rs768604791 |
155 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361511380 rs893578830 |
155 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs893578830 CA128399736 |
155 | R>L | No |
ClinGen gnomAD |
|
|
CA361511405 rs1371772412 |
158 | L>F | No |
ClinGen gnomAD |
|
|
CA3474961 rs377135032 |
159 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361511418 rs1384444202 |
159 | P>S | No |
ClinGen TOPMed |
|
|
rs747874019 CA3474962 |
162 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012028735 CA128399752 |
164 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3474963 rs770111467 |
164 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA361511494 rs1286766786 |
165 | D>Y | No |
ClinGen gnomAD |
|
|
rs773300658 CA3474964 |
167 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361511529 rs773300658 |
167 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs201325660 CA128399764 |
168 | V>G | No |
ClinGen TOPMed |
|
|
CA3474965 rs539552615 CA361511534 |
168 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1470256826 CA361511576 |
171 | L>P | No |
ClinGen gnomAD |
|
|
rs1470256826 CA361511574 |
171 | L>Q | No |
ClinGen gnomAD |
|
|
CA3474967 rs774858191 |
172 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs553462819 CA3474968 |
172 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel rs553462819 CA361511589 |
172 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA 1000Genomes ExAC TOPMed gnomAD |
|
rs753150251 CA3474970 |
174 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474969 rs573363878 |
174 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3474971 rs760946741 |
175 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs766917176 CA128399803 |
175 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 175 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764950275 CA3474972 |
176 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361511686 rs1448671585 |
176 | L>R | No |
ClinGen TOPMed |
|
|
CA3474973 rs749988351 |
177 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361511740 rs1405825615 |
179 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs752076648 CA3474974 |
179 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779673406 CA3474975 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3474977 rs755016114 |
184 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1008251304 CA128399874 |
186 | V>I | No |
ClinGen TOPMed |
|
|
CA3474979 rs748041372 |
188 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1274240064 CA361511962 |
189 | R>C | No |
ClinGen gnomAD |
|
|
rs1337575676 CA361511980 |
189 | R>H | No |
ClinGen gnomAD |
|
|
rs1264580781 CA361512009 |
191 | N>K | No |
ClinGen gnomAD |
|
|
CA361512004 rs1208637349 |
191 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1325273363 CA361512028 |
192 | G>V | No |
ClinGen TOPMed |
|
|
rs199577406 CA3474980 |
194 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3474981 rs778067298 |
195 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 195 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128399880 rs538764130 |
196 | P>L | No |
ClinGen gnomAD |
|
|
CA3474982 rs749419039 |
197 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361512230 rs1418394305 |
203 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771027783 CA3474983 |
204 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3474984 rs774451575 |
205 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361512279 rs1390056342 |
206 | R>P | No |
ClinGen gnomAD |
|
|
rs200568923 CA3474985 |
207 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361512363 rs1331029473 |
210 | A>P | No |
ClinGen gnomAD |
|
|
rs775797735 CA3474987 |
211 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3474988 rs761118146 |
213 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1422730893 CA361514344 |
214 | L>Q | No |
ClinGen gnomAD |
|
|
CA361514404 rs1265406182 |
217 | T>A | No |
ClinGen gnomAD |
|
|
CA128400796 rs917295013 |
220 | D>N | No |
ClinGen Ensembl |
|
|
CA128400818 rs971599906 |
222 | G>C | No |
ClinGen Ensembl |
|
|
rs1323659502 CA361514551 |
222 | G>V | No |
ClinGen Ensembl |
|
|
CA361514556 rs1181086477 |
223 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3474992 rs766108205 |
226 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 226 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3474993 rs751172785 |
228 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367797365 CA361514759 |
230 | V>I | No |
ClinGen gnomAD |
|
|
CA3474995 rs544856148 |
233 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1371905896 CA361514857 |
233 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3474997 rs752517949 |
235 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774026375 CA3474998 |
236 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1394681178 CA361514986 |
238 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3474999 rs777389288 |
238 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749075692 CA3475000 |
240 | N>K | No |
ClinGen ExAC gnomAD |
|
|
COSM302873 rs1038159413 CA128400883 |
243 | A>V | Variant assessed as Somatic; impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA361515151 rs1299162270 |
244 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361515146 rs1329098005 |
244 | P>S | No |
ClinGen TOPMed |
|
|
rs772084941 CA3475004 |
245 | V>D | No |
ClinGen ExAC |
|
|
rs776089620 CA3475005 |
247 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747437039 CA3475006 |
248 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762255781 CA3475009 |
253 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1429033642 CA361515359 |
254 | S>R | No |
ClinGen gnomAD |
|
|
rs766201259 CA3475010 |
258 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361515542 rs1368202031 |
263 | T>I | No |
ClinGen TOPMed |
|
|
rs1167365771 CA361515625 |
268 | V>L | No |
ClinGen TOPMed |
|
|
rs563161887 CA3475013 |
269 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563161887 CA3475012 |
269 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128400924 rs898207454 |
270 | A>V | No |
ClinGen TOPMed |
|
|
CA361515679 rs1464771336 |
271 | T>A | No |
ClinGen gnomAD |
|
|
CA361515687 rs1302633809 |
271 | T>N | No |
ClinGen gnomAD |
|
|
rs1179968710 CA361515718 |
272 | D>G | No |
ClinGen TOPMed |
|
|
CA361515729 rs1437832303 |
273 | R>G | No |
ClinGen gnomAD |
|
|
rs756042576 CA3475015 |
273 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA128400948 CA361515814 rs759228883 |
275 | E>D | No |
ClinGen gnomAD |
|
| VAR_084654 | 275 | E>K | found in a patient with intellectual disability; unknown pathological significance [UniProt] | No | UniProt |
|
rs764067454 CA3475016 |
275 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047239460 CA128400960 |
278 | N>D | No |
ClinGen TOPMed |
|
|
rs753686379 CA3475017 |
278 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1308472085 CA361515877 |
279 | G>R | No |
ClinGen gnomAD |
|
|
rs756983260 CA3475018 |
282 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs532087470 CA3475019 |
282 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746044242 CA3475020 |
283 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs879208408 CA128400977 |
285 | F>C | No |
ClinGen Ensembl |
|
|
CA128401000 rs900884760 |
286 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361516043 rs900884760 |
286 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA128401007 rs769920301 |
288 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 290 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3475022 rs780040293 |
291 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1223239616 CA361516186 |
291 | T>M | No |
ClinGen TOPMed |
|
|
CA3475024 rs769101242 |
295 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1008514691 CA128401049 |
295 | K>R | No |
ClinGen TOPMed |
|
|
rs1008514691 CA361516269 |
295 | K>T | No |
ClinGen TOPMed |
|
|
CA128401055 rs1018518306 |
296 | F>Y | No |
ClinGen TOPMed |
|
|
rs998058224 CA128401066 |
298 | L>V | No |
ClinGen Ensembl |
|
|
rs964114178 CA361516414 |
303 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs964114178 CA128401097 |
303 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1459185694 CA361516424 |
304 | E>Q | No |
ClinGen gnomAD |
|
|
rs774168035 CA3475028 |
306 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361516493 rs1442366960 |
308 | S>P | No |
ClinGen gnomAD |
|
|
CA3475029 rs759223225 |
309 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293589634 CA361516506 |
309 | E>K | No |
ClinGen gnomAD |
|
|
rs771722026 CA3475030 |
310 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1424739885 CA361516546 |
311 | L>V | No |
ClinGen TOPMed |
|
|
CA128401132 rs967826724 |
313 | Y>H | No |
ClinGen TOPMed |
|
|
rs760214999 CA3475032 |
314 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3475033 rs764001135 |
314 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs559064215 CA3475034 |
315 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361516656 rs1214312992 |
317 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1214312992 CA361516660 |
317 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1248472849 CA361516670 |
317 | G>V | No |
ClinGen gnomAD |
|
|
CA361516698 rs1487550233 |
318 | F>L | No |
ClinGen gnomAD |
|
|
CA128401153 rs977911874 |
319 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs761622500 CA3475035 |
319 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA361516776 rs1162904324 |
322 | E>D | No |
ClinGen gnomAD |
|
|
rs764980296 CA3475036 |
322 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361516761 rs1245110230 |
322 | E>K | No |
ClinGen gnomAD |
|
|
rs1473717834 CA361516790 |
323 | I>M | No |
ClinGen gnomAD |
|
|
rs887054185 CA128401163 |
323 | I>T | No |
ClinGen Ensembl |
|
|
CA361516796 rs1157390595 |
324 | Q>* | No |
ClinGen gnomAD |
|
|
CA361516839 rs1251267001 |
326 | E>G | No |
ClinGen TOPMed |
|
|
CA128401173 rs369515642 |
326 | E>K | No |
ClinGen Ensembl |
|
|
CA361516867 rs1167529832 |
328 | G>E | No |
ClinGen gnomAD |
|
|
rs960511656 COSM3715124 CA128401185 |
329 | G>E | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA361516880 rs1455950284 |
330 | A>T | No |
ClinGen gnomAD |
|
|
CA3475039 rs780310968 |
331 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411353386 CA361516932 |
332 | L>P | No |
ClinGen gnomAD |
|
|
CA361516940 rs1245527792 |
333 | A>S | No |
ClinGen TOPMed |
|
|
rs373516334 CA3475040 |
334 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1167812243 CA361516976 |
335 | A>V | No |
ClinGen gnomAD |
|
|
CA3475042 rs374044785 |
337 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361517001 rs1228749194 |
337 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1286799489 CA361517071 |
341 | V>G | No |
ClinGen TOPMed |
|
|
rs748616910 CA3475043 |
343 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1220889085 CA361517119 |
344 | V>I | No |
ClinGen gnomAD |
|
|
rs1252033650 CA361517147 |
345 | N>K | No |
ClinGen gnomAD |
|
|
CA3475045 rs778319178 |
346 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3475046 rs749645155 |
347 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3475047 rs771676386 |
351 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs367888906 CA3475048 |
352 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412230684 CA361517363 |
356 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs760119941 CA3475049 |
357 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475050 rs768166537 |
360 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761782100 CA3475052 |
364 | S>A | No |
ClinGen ExAC |
|
|
CA3475053 rs371499368 |
365 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371499368 CA3475054 |
365 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3475055 rs762803658 |
367 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1448512468 CA361517596 |
369 | V>I | No |
ClinGen gnomAD |
|
|
rs374229359 CA3475057 |
371 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435700383 CA361517665 |
372 | L>F | No |
ClinGen TOPMed |
|
|
rs781378958 CA3475059 |
372 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781378958 CA361517684 |
372 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475060 rs200349573 |
375 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199806270 CA3475061 |
376 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475062 rs778408885 |
377 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs372261571 CA361517922 |
382 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372261571 CA3475064 |
382 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 385 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361518180 rs1450829111 |
392 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361518181 rs1450829111 |
392 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779598674 CA3475066 COSM1063256 |
393 | Y>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1414747968 CA361518230 |
395 | P>S | No |
ClinGen gnomAD |
|
|
CA361518253 rs1335923352 |
396 | F>L | No |
ClinGen gnomAD |
|
|
rs1447111430 CA361518330 |
399 | E>G | No |
ClinGen gnomAD |
|
|
CA3475067 rs746637010 |
404 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA361518470 rs1451035114 COSM1542516 |
404 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA563502393 rs1367379916 |
406 | Y>* | No |
ClinGen gnomAD |
|
|
CA3475068 rs768269499 |
409 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs181582338 CA3475069 |
411 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190630924 CA361518652 |
411 | H>Q | No |
ClinGen TOPMed |
|
|
rs1315007586 CA361518647 |
411 | H>Y | No |
ClinGen gnomAD |
|
|
CA361518671 rs1216701146 |
412 | R>K | No |
ClinGen gnomAD |
|
|
CA3475071 rs769791452 |
414 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs550804810 CA3475072 |
414 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361518775 rs1250470349 |
416 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA128401322 rs369608304 |
416 | R>M | No |
ClinGen ESP |
|
|
rs762669763 CA3475073 |
417 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3475074 rs766147938 |
418 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774467993 CA361518897 |
420 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774467993 CA3475075 |
420 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1422750138 CA361518909 |
421 | S>F | No |
ClinGen gnomAD |
|
|
rs1413718059 CA361518958 |
423 | N>S | No |
ClinGen gnomAD |
|
|
rs1223779483 CA361519011 |
425 | T>I | No |
ClinGen TOPMed |
|
|
CA3475077 rs767824112 |
426 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361519030 rs1390702349 |
426 | V>L | No |
ClinGen gnomAD |
|
|
CA361519078 rs1319960665 |
428 | A>T | No |
ClinGen gnomAD |
|
|
CA361519140 rs1331771342 |
430 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024399243 CA128401371 |
431 | G>V | No |
ClinGen Ensembl |
|
|
rs944183814 CA128401372 |
432 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA128401373 rs1039987036 |
433 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs371832510 CA361519233 |
433 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361519221 rs1039987036 |
433 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361519235 rs1362653612 |
433 | S>R | No |
ClinGen TOPMed |
|
|
rs371832510 CA3475078 |
433 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361519255 rs1242647918 |
434 | P>L | No |
ClinGen gnomAD |
|
|
rs752879517 CA3475080 |
435 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA128401382 rs977591382 |
435 | P>S | No |
ClinGen gnomAD |
|
|
rs1011579090 CA128401393 |
436 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3475082 rs755499269 |
438 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757597548 CA3475084 |
441 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs746198767 CA3475087 |
448 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3475089 rs375363587 |
450 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3475090 rs747661760 |
453 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3475092 rs773044624 |
459 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1184557964 CA361519892 |
460 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA361519918 rs749209012 |
461 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475093 rs749209012 |
461 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361519935 rs1330713312 |
462 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1330713312 CA361519937 |
462 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3475094 rs770740530 |
463 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475095 rs375828619 |
464 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253876890 CA361520030 |
465 | I>M | No |
ClinGen TOPMed |
|
|
CA361520005 rs1349020199 |
465 | I>V | No |
ClinGen gnomAD |
|
|
CA3475096 rs759236472 |
467 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359132446 CA361520112 |
470 | A>G | No |
ClinGen gnomAD |
|
|
rs570765907 CA3475097 |
470 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361520098 rs570765907 |
470 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775783880 CA3475098 |
471 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775783880 CA361520135 |
471 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361520171 rs1287207695 |
472 | G>A | No |
ClinGen gnomAD |
|
|
rs990378609 CA128401486 |
480 | A>E | No |
ClinGen Ensembl |
|
|
CA128401480 rs957641063 |
480 | A>T | No |
ClinGen Ensembl |
|
|
CA128401495 rs998923536 |
483 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361520450 rs1471507988 |
485 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1180942374 CA361520460 |
486 | K>E | No |
ClinGen gnomAD |
|
|
rs1368963927 CA361520481 |
486 | K>N | No |
ClinGen gnomAD |
|
|
rs753834653 CA3475101 |
487 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475102 rs539861509 |
488 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361520518 rs1365049597 |
489 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA128401500 rs1035735674 |
489 | A>T | No |
ClinGen TOPMed |
|
|
CA361520535 rs765652709 |
490 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475103 rs765652709 |
490 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310121141 CA361520537 |
490 | Q>P | No |
ClinGen gnomAD |
|
|
CA361520561 rs1369045439 |
491 | I>T | No |
ClinGen gnomAD |
|
|
CA361520612 rs1409573217 |
494 | S>Y | No |
ClinGen gnomAD |
|
|
rs566999623 CA3475104 |
495 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566999623 CA361520624 |
495 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3475105 rs115280317 |
499 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs975445162 CA128401520 |
501 | Q>* | No |
ClinGen Ensembl |
|
|
CA3475109 rs201724090 |
504 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361520843 rs1256681548 |
505 | L>R | No |
ClinGen gnomAD |
|
|
rs748722995 CA3475112 |
508 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748722995 CA3475111 |
508 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886960965 CA128401576 |
509 | I>V | No |
ClinGen Ensembl |
|
|
CA3475113 rs778708386 |
510 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1253697066 CA361520966 |
512 | N>T | No |
ClinGen TOPMed |
|
|
rs1361757630 CA361521043 |
515 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3475115 rs373261988 |
516 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361521085 rs1303775655 |
517 | V>A | No |
ClinGen gnomAD |
|
|
CA361521076 COSM3715125 rs1461729604 |
517 | V>I | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768741206 CA3475118 |
520 | A>T | No |
ClinGen ExAC |
|
|
CA361521164 rs776833780 |
522 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475119 rs776833780 |
522 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361521188 rs1334123861 |
523 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1589916470 CA361521178 |
523 | S>P | No |
ClinGen Ensembl |
|
|
rs765780935 CA3475121 |
525 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3475123 rs10041534 |
526 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1339630983 CA361521266 |
526 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3475124 rs766689016 |
534 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361521480 rs1346896593 |
535 | Q>* | No |
ClinGen gnomAD |
|
|
CA3475125 rs202113404 |
535 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3475126 rs755811755 |
536 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 537 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3475127 rs372484037 |
538 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128401701 rs372484037 |
538 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361521549 rs1190584746 |
539 | S>G | No |
ClinGen gnomAD |
|
|
CA3475128 rs375736950 |
539 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1063263 CA3475129 rs756653393 |
540 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361521612 rs1177065576 |
542 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3475130 rs201378410 |
543 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475131 rs545421792 |
544 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361521669 rs1464881022 |
544 | P>S | No |
ClinGen gnomAD |
|
|
CA361521683 rs1456746179 |
545 | P>A | No |
ClinGen TOPMed |
|
|
CA361521715 rs1389980970 |
546 | L>P | No |
ClinGen gnomAD |
|
|
CA361521724 rs1437985019 |
547 | S>I | No |
ClinGen gnomAD |
|
|
CA361521720 rs1368279926 |
547 | S>R | No |
ClinGen TOPMed |
|
|
CA361521771 rs1321959107 |
549 | N>S | No |
ClinGen gnomAD |
|
|
rs1359274012 CA361521793 |
550 | V>L | No |
ClinGen gnomAD |
|
|
CA361521790 rs1359274012 |
550 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361521829 rs1253521902 |
551 | S>L | No |
ClinGen TOPMed |
|
|
rs768992312 CA3475135 |
553 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361521996 rs10038103 |
558 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128401740 rs1024716614 |
558 | D>G | No |
ClinGen Ensembl |
|
|
CA128401746 rs912305541 |
559 | Q>E | No |
ClinGen TOPMed |
|
|
rs912305541 CA361522007 |
559 | Q>K | No |
ClinGen TOPMed |
|
|
rs1191943867 CA361522043 |
560 | N>T | No |
ClinGen gnomAD |
|
|
CA361522060 rs1269714202 |
561 | D>H | No |
ClinGen gnomAD |
|
|
rs1488203637 CA361522092 |
562 | N>K | No |
ClinGen Ensembl |
|
|
CA3475140 rs763491057 |
563 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1561752050 CA361522117 |
563 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361522143 rs1413236073 |
564 | P>R | No |
ClinGen gnomAD |
|
|
rs1346192710 CA361522158 |
565 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs572616023 CA128401797 |
570 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| TCGA novel | 570 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3475144 rs374779316 |
571 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128401814 rs756810046 |
575 | G>A | No |
ClinGen ExAC TOPMed |
|
|
CA3475146 rs756810046 |
575 | G>D | No |
ClinGen ExAC TOPMed |
|
|
rs1369274783 CA361522370 COSM268274 |
575 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs756810046 CA361522380 |
575 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs758472270 CA3475149 |
578 | G>D | No |
ClinGen ExAC |
|
|
rs541492590 CA3475150 |
579 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361522511 rs1222364302 |
582 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1222364302 COSM1063265 CA361522504 |
582 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs201279747 CA3475154 |
586 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475155 rs770025434 |
586 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361522593 rs1180531184 |
587 | E>D | No |
ClinGen gnomAD |
|
|
CA361522576 rs1473788181 |
587 | E>K | No |
ClinGen gnomAD |
|
|
rs1407853248 CA361522613 |
588 | P>R | No |
ClinGen gnomAD |
|
|
CA3475158 rs771494010 |
589 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs749356512 COSM2150107 CA3475157 |
589 | G>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA361522683 rs1422289231 |
591 | L>P | No |
ClinGen gnomAD |
|
|
rs1017858929 CA128401873 |
592 | V>A | No |
ClinGen TOPMed |
|
|
CA3475159 rs774769957 |
592 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361522697 rs774769957 |
592 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs550492051 CA3475162 |
594 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475163 rs776374898 |
595 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA361522744 rs1357376957 |
596 | V>M | No |
ClinGen gnomAD |
|
|
rs1245472476 CA361522761 |
597 | A>P | No |
ClinGen gnomAD |
|
|
rs564450666 CA3475165 |
597 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533056439 CA3475168 |
600 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361522870 rs1415279007 |
603 | G>S | No |
ClinGen gnomAD |
|
|
rs1442265707 CA361522931 |
605 | N>K | No |
ClinGen gnomAD |
|
|
CA361522942 rs1162432290 |
606 | A>S | No |
ClinGen gnomAD |
|
|
CA361522937 rs1162432290 |
606 | A>T | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361522957 rs1390374290 |
607 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1390374290 CA361522955 |
607 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361522965 rs1431326081 |
607 | W>S | No |
ClinGen gnomAD |
|
|
CA361522989 rs1437776247 |
608 | L>Q | No |
ClinGen TOPMed |
|
|
rs1326591845 CA361523010 |
609 | S>C | No |
ClinGen gnomAD |
|
|
CA361523048 rs1353721901 COSM246464 |
611 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs369009151 CA3475171 |
611 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361523068 rs149553852 |
612 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1451963535 CA361523092 |
613 | L>F | No |
ClinGen gnomAD |
|
|
rs1213037511 CA361523172 |
616 | S>R | No |
ClinGen gnomAD |
|
|
rs1476746248 CA361523194 |
617 | E>D | No |
ClinGen TOPMed |
|
|
rs1272655664 CA361523179 |
617 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs756347396 CA3475175 |
618 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475178 rs374572942 |
619 | G>R | No |
ClinGen ESP ExAC |
|
|
CA128401949 rs982540695 |
619 | G>V | No |
ClinGen TOPMed |
|
|
rs1207811183 CA361523266 |
620 | L>V | No |
ClinGen TOPMed |
|
|
rs775779136 CA3475182 |
621 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475181 rs772612744 |
621 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3475185 rs772941952 |
622 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3475184 rs761101620 |
622 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475183 rs761101620 |
622 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772941952 CA361523329 |
622 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 624 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535976406 CA3475189 |
625 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs773120396 | 625 | E>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549455612 CA3475190 |
625 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361523438 rs1451897194 |
626 | H>Q | No |
ClinGen gnomAD |
|
|
rs767474996 CA3475191 |
627 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361523527 rs752501609 |
629 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA361523504 rs1428839232 |
629 | E>Q | No |
ClinGen gnomAD |
|
|
rs569362520 CA128401992 |
630 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA361523533 rs569362520 |
630 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3475194 rs777981621 |
631 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361523571 rs1323441877 |
632 | T>A | No |
ClinGen gnomAD |
|
|
rs538474552 CA3475195 |
632 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538474552 CA128401996 |
632 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475197 rs558067255 |
633 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475199 rs772523894 |
634 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1388248799 CA361523631 |
635 | A>D | No |
ClinGen TOPMed |
|
|
CA3475200 rs780547982 |
635 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361523728 rs1045755927 |
640 | D>E | No |
ClinGen gnomAD |
|
|
rs1398998410 CA361523735 |
641 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1472993181 CA361523810 |
644 | Q>* | No |
ClinGen TOPMed |
|
|
CA3475205 rs372656276 |
644 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361523859 rs1490074484 |
645 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1281712026 CA361523883 |
646 | L>P | No |
ClinGen gnomAD |
|
|
CA3475206 COSM1063267 rs186848544 |
647 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361523901 rs186848544 |
647 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361523941 rs1229513014 |
648 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1589943412 CA361523979 |
650 | V>G | No |
ClinGen Ensembl |
|
|
rs1349224471 CA361523973 |
650 | V>I | No |
ClinGen gnomAD |
|
|
rs376477668 CA3475208 |
651 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1340748055 CA361523995 |
651 | Q>R | No |
ClinGen TOPMed |
|
|
rs752622569 CA3475209 |
653 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3475212 rs763832284 |
654 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1224251849 CA361524068 |
654 | G>S | No |
ClinGen gnomAD |
|
|
CA3475211 rs763832284 |
654 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3475213 rs757516335 |
656 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA361524127 rs1589944872 |
657 | P>R | No |
ClinGen Ensembl |
|
|
CA3475214 rs779194230 |
658 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779194230 CA3475215 |
658 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1158055784 CA361524216 |
661 | T>A | No |
ClinGen gnomAD |
|
|
rs572456395 CA3475217 |
663 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1410806560 CA361524278 |
664 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1410806560 CA361524279 |
664 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 665 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3475223 rs770772038 |
666 | V>G | No |
ClinGen ExAC |
|
|
CA3475222 rs748508713 |
666 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA361524334 rs1368688199 |
667 | A>P | No |
ClinGen TOPMed |
|
|
rs758980730 CA3475225 COSM3697035 |
668 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361524352 rs1561755073 |
669 | A>T | No |
ClinGen Ensembl |
|
|
rs975620321 CA128402116 |
669 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375113497 CA3475228 |
670 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3475226 rs201831693 |
670 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 671 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361524400 rs1415724271 |
671 | S>N | No |
ClinGen TOPMed |
|
|
CA361524422 rs575244490 |
672 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475229 rs575244490 |
672 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472593314 CA361524450 |
673 | P>S | No |
ClinGen TOPMed |
|
|
CA3475230 rs753702657 |
674 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs761532551 CA3475231 |
675 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361524509 rs761532551 |
675 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750613524 CA3475233 |
680 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs758439978 CA3475234 |
682 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475235 rs770945219 |
684 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475236 rs189700811 |
684 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329834276 CA361524703 |
686 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3475238 rs755602367 |
686 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1391277211 CA361524730 |
688 | S>A | No |
ClinGen gnomAD |
|
|
CA3475240 rs181239359 |
691 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756443082 CA3475241 |
692 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs895920596 CA128402152 |
693 | L>F | No |
ClinGen TOPMed |
|
|
CA128402157 rs908329007 |
694 | T>A | No |
ClinGen gnomAD |
|
|
rs778452630 CA361524850 |
695 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778452630 CA3475243 |
695 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1228702476 CA361524843 |
695 | L>V | No |
ClinGen gnomAD |
|
|
CA361524877 rs1342050986 |
697 | L>V | No |
ClinGen Ensembl |
|
|
rs1044469814 CA361524905 |
699 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1044469814 CA128402165 |
699 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1063269 CA3475247 rs775112066 |
700 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs533281226 CA3475248 |
701 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1589953805 CA361525003 |
704 | V>G | No |
ClinGen Ensembl |
|
|
rs1561755891 CA361524992 |
704 | V>I | No |
ClinGen Ensembl |
|
|
rs1413039067 CA361525017 |
705 | S>F | No |
ClinGen TOPMed |
|
|
CA3475252 rs778092218 |
706 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3475253 rs369551410 |
707 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361525125 rs1468756434 |
710 | A>V | No |
ClinGen gnomAD |
|
|
rs199689792 CA3475257 |
712 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3475256 rs199689792 |
712 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375384840 CA3475259 |
713 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs948559659 CA128402202 |
713 | I>T | No |
ClinGen Ensembl |
|
|
CA361525180 rs1245475147 |
713 | I>V | No |
ClinGen TOPMed |
|
|
rs201784236 CA3475260 CA3475261 |
714 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361525197 rs201784236 |
714 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361525226 rs1226384298 |
716 | L>R | No |
ClinGen gnomAD |
|
|
rs1046074461 CA128402217 |
717 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749590670 CA3475263 |
718 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361525289 rs1326574664 |
719 | R>G | No |
ClinGen TOPMed |
|
|
CA361525331 rs1180463082 |
721 | R>P | No |
ClinGen gnomAD |
|
|
rs746539261 CA3475266 |
721 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA3475269 rs776585248 |
722 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361525348 rs776585248 |
722 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3475270 rs370032689 |
723 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305683222 CA361525366 |
723 | W>R | No |
ClinGen TOPMed |
|
|
rs1259875758 CA361525399 |
724 | H>R | No |
ClinGen gnomAD |
|
|
rs561851810 CA128402224 |
725 | K>E | No |
ClinGen gnomAD |
|
|
rs921019257 CA128402226 |
725 | K>R | No |
ClinGen TOPMed |
|
|
rs1200011688 CA361525465 |
727 | R>H | No |
ClinGen gnomAD |
|
|
CA361525450 rs1439946466 |
727 | R>S | No |
ClinGen TOPMed |
|
|
RCV000963848 rs62378454 CA3475272 |
730 | Q>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1453832867 CA361525582 |
734 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 735 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361525618 rs1382323701 |
735 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3475277 rs767664633 |
737 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388093443 CA361525674 |
737 | T>I | No |
ClinGen TOPMed |
|
|
rs752789407 CA3475278 |
738 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 738 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347191224 CA361525677 |
738 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361525699 rs1450586490 |
739 | V>A | No |
ClinGen TOPMed |
|
|
CA361525688 rs1191160575 |
739 | V>M | No |
ClinGen TOPMed |
|
|
rs574028530 COSM1739178 CA128402243 |
740 | S>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs893251079 CA128402246 |
740 | S>Y | No |
ClinGen TOPMed |
|
|
rs1168654728 CA361525727 |
741 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3475279 rs11575962 |
741 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168654728 CA361525730 |
741 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754292889 CA3475281 |
742 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754292889 CA361525756 |
742 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3475282 rs757508926 |
743 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361525774 rs199662613 CA3475283 |
743 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475284 rs751177252 |
744 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361525806 rs1589963790 |
745 | V>G | No |
ClinGen Ensembl |
|
|
CA3475286 rs754595054 |
746 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361525844 rs1160642304 |
747 | V>A | No |
ClinGen gnomAD |
|
|
CA361525854 rs1589964635 |
748 | D>N | No |
ClinGen Ensembl |
|
|
rs1589964927 CA361525903 |
750 | V>G | No |
ClinGen Ensembl |
|
|
COSM736647 CA3475291 rs749121255 |
751 | R>Q | lung Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 752 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361526017 rs1225407576 |
757 | Y>C | No |
ClinGen gnomAD |
|
|
CA3475292 rs770800491 |
757 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs774745130 CA3475293 |
759 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361526099 rs899212436 |
760 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3475294 COSM1310746 rs759873920 |
760 | E>K | urinary_tract Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA128402300 rs899212436 |
760 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3475296 rs775767614 |
761 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3475297 rs760663574 |
762 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3475298 rs751798354 |
764 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361526176 rs1187128064 |
764 | T>I | No |
ClinGen TOPMed |
|
|
rs1247738517 CA361526195 |
765 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762272586 CA3475300 COSM273669 |
765 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1247738517 CA361526197 |
765 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148312442 CA128402332 |
767 | S>P | No |
ClinGen 1000Genomes |
|
|
rs369349538 CA128402337 |
770 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA361526409 rs1312874620 |
773 | I>T | No |
ClinGen gnomAD |
|
|
CA128402339 rs373866182 |
773 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA361526501 rs1162629839 |
776 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444248720 CA361526519 |
777 | P>A | No |
ClinGen gnomAD |
|
|
rs997659180 CA128402365 |
779 | Y>* | No |
ClinGen TOPMed |
|
|
CA3475305 rs780820182 |
779 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM357623 CA128402379 rs867995925 |
780 | A>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA128402391 rs199990575 |
781 | D>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
CA3475307 rs200535016 |
782 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361526675 rs1245542927 |
783 | L>P | No |
ClinGen gnomAD |
|
|
CA361526678 rs1245542927 |
783 | L>R | No |
ClinGen gnomAD |
|
|
rs777787905 CA3475308 |
786 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs749139053 CA128402397 |
786 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202920204 CA361526857 |
789 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1561758242 CA361526903 |
790 | E>K | No |
ClinGen Ensembl |
|
|
rs554003983 CA3475311 |
791 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475312 rs745641887 |
792 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 793 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244457142 CA361526995 |
793 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772487189 CA3475313 |
794 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128402422 rs4623201 |
796 | S>F | No |
ClinGen Ensembl |
|
|
VAR_048567 CA3475314 rs11575963 |
796 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs962518094 CA128402428 |
798 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 799 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361527148 rs1561758374 |
799 | D>N | No |
ClinGen Ensembl |
|
|
CA361527174 rs1168111069 |
800 | D>G | No |
ClinGen gnomAD |
|
|
CA3475315 rs375863243 |
800 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3475317 COSM1434523 rs776744277 |
801 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs182127695 CA3475316 |
801 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3475318 rs776744277 |
801 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773634634 CA3475320 |
802 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589974529 CA361527246 |
804 | P>A | No |
ClinGen Ensembl |
|
|
rs200868391 CA3475322 |
804 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM420862 rs201666137 CA3475324 |
805 | I>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769216282 CA3475323 |
805 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753362668 CA3475326 |
807 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA361527327 rs1206125540 |
808 | T>A | No |
ClinGen gnomAD |
|
|
rs778987183 CA3475328 |
809 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 809 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs568448786 CA3478528 |
813 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128409902 rs951185891 |
815 | P>L | No |
ClinGen gnomAD |
|
|
rs983998465 CA128409930 |
816 | P>H | No |
ClinGen Ensembl |
|
|
CA3478530 rs750564390 |
818 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478531 rs758427900 |
821 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1016713543 CA128409955 |
822 | F>L | No |
ClinGen Ensembl |
|
|
rs1163193977 CA361566926 |
824 | Q>R | No |
ClinGen TOPMed |
|
|
CA3478532 rs201391904 |
825 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361566953 rs1470545451 |
826 | Q>H | No |
ClinGen TOPMed |
|
|
rs755464933 CA3478534 |
828 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361566994 rs200418116 |
829 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200418116 CA3478535 |
829 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1304361659 CA361567019 |
830 | T>I | No |
ClinGen gnomAD |
|
|
rs1595274161 CA361567006 |
830 | T>P | No |
ClinGen Ensembl |
|
|
CA3478537 rs538734954 |
831 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478539 rs773899530 |
832 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361567042 rs773899530 |
832 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478538 rs773899530 |
832 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3478556 rs778130416 |
834 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361568554 rs1246198657 |
835 | N>I | No |
ClinGen TOPMed |
|
|
CA361568557 rs1216666169 |
835 | N>K | No |
ClinGen TOPMed |
|
|
rs546453598 CA3478558 |
837 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361568605 rs1240988786 |
839 | T>I | No |
ClinGen gnomAD |
|
|
rs746487145 CA3478560 |
840 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361568615 rs1595961990 |
841 | T>P | No |
ClinGen Ensembl |
|
|
CA361568623 rs1303924776 |
841 | T>S | No |
ClinGen TOPMed |
|
|
rs1386912520 CA361568660 |
843 | P>L | No |
ClinGen gnomAD |
|
|
rs1422538114 CA361568652 |
843 | P>S | No |
ClinGen gnomAD |
|
|
rs1453435374 CA361568667 |
844 | N>D | No |
ClinGen gnomAD |
|
|
CA3478561 rs377061064 |
844 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361568730 rs1417754900 |
846 | Q>P | No |
ClinGen gnomAD |
|
|
rs984518760 CA128414138 |
848 | D>Y | No |
ClinGen Ensembl |
|
|
CA3478565 rs773048793 |
853 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361568874 rs1326296096 |
855 | M>V | No |
ClinGen gnomAD |
|
|
CA361568953 rs1241228956 |
858 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA128414155 rs769108315 |
860 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3478584 rs762789865 |
863 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770587030 CA3478585 |
863 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361569738 rs1456176347 |
867 | S>G | No |
ClinGen gnomAD |
|
|
CA361569743 rs1180757756 |
867 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361569756 rs1473736492 |
868 | S>F | No |
ClinGen gnomAD |
|
|
CA361569752 rs1237904575 |
868 | S>P | No |
ClinGen gnomAD |
|
|
CA128417740 rs905130929 |
870 | L>P | No |
ClinGen TOPMed |
|
|
CA361569775 rs1448442252 |
871 | G>R | No |
ClinGen TOPMed |
|
|
CA3478590 rs761149166 |
872 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752758180 CA3478589 |
872 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361569797 rs1466168256 |
873 | G>A | No |
ClinGen gnomAD |
|
|
rs754203270 CA3478592 |
875 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361569811 rs1278517639 |
875 | G>S | No |
ClinGen TOPMed |
|
|
COSM1434613 COSM1434610 COSM1434636 COSM1434620 COSM1434638 COSM1434609 COSM1434635 CA361569834 rs1457918073 COSM1434622 COSM1434630 COSM1434619 COSM1434612 COSM1434621 COSM1434625 COSM1434628 COSM1434615 COSM1434631 COSM1434634 COSM1434618 COSM1434614 COSM1434623 COSM1434611 COSM1434626 COSM1434616 COSM1434624 COSM1434627 COSM1434617 |
877 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA128417772 rs879030278 |
877 | M>R | No |
ClinGen TOPMed |
|
|
CA128417771 rs879030278 |
877 | M>T | No |
ClinGen TOPMed |
|
|
rs757663132 CA3478593 |
877 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA128417773 rs143630962 |
880 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA361569871 |
881 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA3478595 |
881 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148119281 CA3478596 |
882 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM252705 COSM252695 COSM252694 COSM252689 COSM252703 COSM252706 COSM252687 COSM252702 COSM252686 COSM252700 COSM252699 COSM252707 COSM252692 COSM252698 rs780918754 COSM252690 COSM252693 COSM252701 COSM252697 COSM252685 COSM252704 COSM252691 COSM252688 COSM252696 CA3478597 COSM252684 |
882 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361569882 rs780918754 |
882 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA361569892 rs1286219897 |
883 | Y>C | No |
ClinGen TOPMed |
|
|
rs370503146 CA361569900 CA128417777 |
884 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1430257603 CA361569909 |
885 | P>S | No |
ClinGen TOPMed |
|
|
CA361569934 rs1194909537 |
887 | F>S | No |
ClinGen gnomAD |
|
|
rs1596312562 CA361569940 |
888 | T>P | No |
ClinGen Ensembl |
|
|
CA361569954 rs1279056657 |
889 | L>R | No |
ClinGen gnomAD |
|
|
CA361569967 CA128417780 rs779589499 |
890 | Q>H | No |
ClinGen gnomAD |
|
|
CA361569972 rs1185153127 |
891 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1542463 COSM1542479 COSM1542470 COSM1542466 COSM1542482 COSM1542480 COSM1542471 COSM1542468 COSM1542464 COSM1542455 COSM1542458 COSM1542467 COSM1542475 CA3478601 COSM1542469 rs116366286 COSM1542456 COSM1542474 COSM1542453 COSM1542454 COSM1542478 COSM1542459 COSM1542465 COSM1542460 COSM1542461 COSM1542457 COSM1542462 COSM1542472 |
892 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs770767470 CA3478602 |
893 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361570002 rs774071540 |
894 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774071540 CA3478603 |
894 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478604 rs759809591 |
896 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1261501 COSM1261498 CA3478605 COSM1261488 COSM1261490 COSM1261496 COSM1261482 COSM1261491 COSM1261494 COSM1261487 COSM1261511 COSM1261484 COSM1261508 COSM1261493 COSM1261503 rs61749029 COSM1261500 COSM1261507 COSM1261509 COSM1261504 COSM1261495 COSM1261485 COSM1261499 COSM1261497 COSM1261483 COSM1261489 COSM1261492 COSM1261486 |
896 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA128417831 rs979000054 |
899 | V>I | No |
ClinGen TOPMed |
|
|
rs760786015 CA3478607 |
902 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341623011 CA361570104 |
903 | G>D | No |
ClinGen gnomAD |
|
|
CA128417833 rs548074156 |
903 | G>S | No |
ClinGen 1000Genomes |
|
|
CA361570117 rs1250292751 |
904 | S>I | No |
ClinGen TOPMed |
|
|
CA3478608 rs201009079 |
905 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478610 rs377350933 |
911 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128417877 rs1027676257 |
912 | A>T | No |
ClinGen Ensembl |
|
|
rs1256158642 CA361570180 |
912 | A>V | No |
ClinGen gnomAD |
|
|
CA128417880 rs779731716 |
914 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs536900646 CA3478612 |
915 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536900646 CA3478613 |
915 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765756193 CA3478611 |
915 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767257788 CA3478614 |
917 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361570222 rs767257788 |
917 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361570244 rs1352222210 |
919 | A>V | No |
ClinGen TOPMed |
|
|
CA361570255 rs1175280816 |
920 | P>L | No |
ClinGen gnomAD |
|
|
rs752246201 CA3478615 |
921 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA361570256 rs1306158892 |
921 | A>T | No |
ClinGen TOPMed |
|
|
CA3478617 rs777082914 |
923 | G>D | No |
ClinGen ExAC |
|
|
CA3478618 rs200541479 |
925 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405623579 CA361570300 |
926 | N>K | No |
ClinGen gnomAD |
|
|
rs202071188 CA3478620 |
930 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422052114 CA361570368 |
936 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1384881403 CA361570382 |
937 | K>Y | No |
ClinGen gnomAD |
No associated diseases with Q9Y5H3
11 regional properties for Q9Y5H3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin-like | 49 - 137 | IPR002126-1 |
| domain | Cadherin-like | 138 - 246 | IPR002126-2 |
| domain | Cadherin-like | 246 - 351 | IPR002126-3 |
| domain | Cadherin-like | 352 - 566 | IPR002126-4 |
| domain | Cadherin-like | 583 - 687 | IPR002126-5 |
| domain | Cadherin, N-terminal | 34 - 116 | IPR013164 |
| conserved_site | Cadherin conserved site | 234 - 244 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 444 - 454 | IPR020894-2 |
| conserved_site | Cadherin conserved site | 554 - 564 | IPR020894-3 |
| domain | Cadherin, C-terminal catenin-binding domain | 815 - 936 | IPR031904 |
| domain | Cadherin, cytoplasmic C-terminal domain | 692 - 775 | IPR032455 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRC1 | PCDHGA10 | Protocadherin gamma-A10 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| Q9BZA8 | PCDH11Y | Protocadherin-11 Y-linked | Homo sapiens (Human) | PR |
| Q08174 | PCDH1 | Protocadherin-1 | Homo sapiens (Human) | PR |
| Q9HC56 | PCDH9 | Protocadherin-9 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9Y5I3 | PCDHA1 | Protocadherin alpha-1 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAQRNRSKE | SKDCSGLVLL | CLFFGIPWEA | GARQISYSIP | EELEKGSFVG | NISKDLGLAP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RELAERGVRI | VSRGRTQLFS | LNPRSGSLIT | AGRIDREELC | AQSARCVVSF | NILVEDRVKL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FGIEIEVTDI | NDNAPKFQAE | NLDVKINENV | AAGMRFPLPE | AIDPDVGVNS | LQSYQLSPNK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HFSLRVQSRA | NGVKYPELVL | EHSLDREEEA | IHHLVLTASD | GGDPLRSGTV | LVSVTVFDAN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DNAPVFTLPE | YRVSVPENLP | VGTQLLTVTA | TDRDEGANGE | VTYSFRKLPD | TQLLKFQLNK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YTGEIKISEN | LDYEETGFYE | IEIQAEDGGA | YLATAKVLIT | VEDVNDNSPE | LTITSLFSPV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TEDSPLGTVV | ALLNVHDLDS | EQNGQVTCSI | LAYLPFKLEK | SIDSYYRLVI | HRALDREQVS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SYNITVTATD | GGSPPLSTEA | HFMLQVADIN | DNPPTFSQVS | YFTYIPENNA | RGASIFSVTA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LDPDSKENAQ | IIYSLAEDTI | QGVPLSSYIS | INSDTGVLYA | LRSFDYEQFH | ELQMQVTASD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SGDPPLSSNV | SLSLFVLDQN | DNAPEILYPA | LPTDGSTGVE | LAPRSAEPGY | LVTKVVAVDR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DSGQNAWLSY | RLLKASEPGL | FAVGEHTGEV | RTARALLDRD | ALKQSLVVAV | QDHGQPPLSA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TVTLTVAVAD | SIPQVLADLG | SFESPANSET | SDLTLYLVVA | VAAVSCVFLA | FVIVLLAHRL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RRWHKSRLLQ | ASGGGLTGVS | GSHFVGVDGV | RAFLQTYSHE | VSLTADSRKS | HLIFPQPNYA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DTLISQESCE | KNDPLSLLDD | SKFPIEDTPL | VPQAPPNTDW | RFSQAQRPGT | SGSQNGDDTG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TWPNNQFDTE | MLQAMILASA | SEAADGSSTL | GGGAGTMGLS | ARYGPQFTLQ | HVPDYRQNVY |
| 910 | 920 | 930 | |||
| IPGSNATLTN | AAGKRDGKAP | AGGNGNKKKS | GKKEKK |