Q5T6L9
PR
Gene name |
ERMARD (C6orf70) |
Protein name |
Endoplasmic reticulum membrane-associated RNA degradation protein |
Names |
ER membrane-associated RNA degradation protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55780 |
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 Q5T6L9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T6L9-F1 | Predicted | AlphaFoldDB |
602 variants for Q5T6L9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs146747272 CA4105942 RCV002537537 RCV000900431 |
221 | Y>N | Inborn genetic diseases [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001169928 rs1371239720 |
358 | D>missing | Periventricular nodular heterotopia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070433 RCV000074458 CA145394 rs398122410 |
377 | I>N | Periventricular nodular heterotopia 6 PVNH6; may decrease protein stability [ClinVar, UniProt] | Yes |
Ensembl ClinGen ClinVar UniProt dbSNP |
|
RCV000437289 rs41265401 RCV002062351 CA4106290 RCV001420687 |
502 | R>H | Periventricular nodular heterotopia 6 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1328981245 RCV001725879 |
504 | P>missing | Periventricular nodular heterotopia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA366503306 rs1242457407 |
2 | E>* | No |
gnomAD ClinGen |
|
|
CA366503309 rs200330797 |
2 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000605306 RCV000912441 rs200330797 CA4105683 |
2 | E>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1398857296 CA366503640 |
5 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1485979469 CA366503660 |
7 | D>E | No |
gnomAD ClinGen |
|
|
rs760177283 CA4105709 |
7 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs760177283 CA4105710 |
7 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1288034416 CA366503672 |
9 | I>L | No |
ClinGen TOPMed |
|
|
rs1288034416 CA366503673 |
9 | I>V | No |
TOPMed ClinGen |
|
|
CA152190553 rs113015559 |
10 | T>A | No |
Ensembl ClinGen |
|
|
CA4105713 rs759934226 |
11 | T>I | No |
ExAC ClinGen |
|
|
rs1405313828 CA366503740 |
15 | P>S | No |
TOPMed ClinGen |
|
|
rs1389137896 CA366503754 |
16 | S>* | No |
TOPMed ClinGen |
|
|
CA4105716 rs758842196 |
18 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC ClinGen NCI-TCGA |
|
CA4105718 rs751655186 |
20 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs572770346 CA4105721 |
20 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757396095 CA366503796 |
20 | I>R | No |
ExAC gnomAD ClinGen |
|
|
rs757396095 CA4105719 |
20 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs1157235991 CA366503812 |
22 | C>Y | No |
gnomAD ClinGen |
|
|
rs770097620 CA4105722 |
23 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366503833 rs1457376809 |
25 | G>E | No |
TOPMed ClinGen |
|
|
rs1435676805 CA366503853 |
27 | Q>H | No |
gnomAD ClinGen |
|
|
rs979250854 CA152190635 |
29 | R>G | No |
Ensembl ClinGen |
|
|
CA4105725 rs747912142 |
29 | R>T | No |
ExAC gnomAD ClinGen |
|
|
rs533667178 CA4105726 |
30 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 31 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414259843 CA366503939 |
35 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs150302870 CA4105727 |
37 | I>V | No |
ESP ExAC ClinGen |
|
|
rs555474634 CA4105729 |
39 | T>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA4105732 COSM1076173 rs764884752 |
44 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753006522 CA4105733 |
45 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs921067108 CA152190686 |
45 | C>W | No |
Ensembl ClinGen |
|
|
rs1197839775 CA366504069 |
46 | W>C | No |
ClinGen TOPMed |
|
|
CA4105734 rs763371570 |
46 | W>R | No |
ExAC gnomAD ClinGen |
|
|
rs369674761 CA4105735 |
48 | T>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA152190706 rs777553387 |
49 | I>T | No |
ClinGen Ensembl |
|
|
CA366504094 rs1252011196 |
49 | I>V | No |
gnomAD ClinGen |
|
|
rs752086371 CA4105736 |
52 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1050824807 CA152190714 |
55 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV000435507 CA4105740 rs187725532 |
57 | E>D | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA4105739 rs757451102 |
57 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4105741 rs750475288 |
58 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs780323173 CA4105743 |
59 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766562816 CA4105767 |
60 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766562816 CA366504501 |
60 | Q>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366504514 rs1213957233 |
61 | G>R | No |
TOPMed ClinGen |
|
|
CA366504521 rs1444297173 |
61 | G>V | No |
ClinGen TOPMed |
|
|
CA366504538 rs1226130077 |
63 | D>G | No |
gnomAD ClinGen |
|
|
rs1563008070 CA366504572 |
66 | G>A | No |
ClinGen Ensembl |
|
|
CA4105769 rs755115922 |
67 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211412748 CA366504582 |
68 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4105772 rs757189673 |
72 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA366504620 rs1313901319 |
74 | V>A | No |
gnomAD ClinGen |
|
|
rs781100551 CA4105773 |
75 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366504641 rs1360709055 |
77 | A>V | No |
ClinGen TOPMed |
|
|
CA572009156 rs1563008098 |
78 | V>A | No |
ClinGen Ensembl |
|
|
CA366504658 rs1563008162 |
80 | S>P | No |
ClinGen Ensembl |
|
|
rs137971039 RCV002056847 CA4105774 RCV000501616 |
81 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs769325120 CA4105776 |
85 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4105777 rs61735516 RCV000884634 RCV000432020 |
86 | T>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs61735516 CA4105778 |
86 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs979875961 CA152191798 |
87 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 87 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 88 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000433117 CA4105779 RCV000970845 rs148450358 |
89 | Q>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA152191804 rs914689662 |
91 | E>G | No |
TOPMed ClinGen |
|
|
rs17860632 RCV000433691 RCV002062354 CA4105780 |
92 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA4105781 rs762266071 |
93 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366504740 rs762266071 |
93 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142642959 CA4105784 |
93 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4105783 rs142642959 |
93 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
RCV000923869 CA4105782 rs142642959 |
93 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA366504745 rs1356838276 |
94 | Y>C | No |
ClinGen gnomAD |
|
|
CA4105786 rs753813981 |
95 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA4105788 rs765374947 |
96 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs540049792 CA4105787 |
96 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4105790 rs147639298 |
98 | F>L | No |
1000Genomes ExAC ClinGen |
|
|
CA4105791 rs781155619 |
98 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA152191855 rs143215528 |
99 | Q>H | No |
ESP ClinGen |
|
|
rs913491832 CA152191866 |
100 | W>* | No |
ClinGen Ensembl |
|
|
rs755960732 CA4105793 |
100 | W>C | No |
ExAC gnomAD ClinGen |
|
|
rs745782759 CA4105792 |
100 | W>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366504787 rs1258784217 |
101 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs779636684 CA4105794 |
101 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA366504786 rs1258784217 |
101 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366504792 rs1185823801 |
102 | S>G | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 103 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4105796 rs768492983 |
104 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4105797 rs542068627 |
105 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 106 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396872706 CA366497539 |
106 | L>V | No |
ClinGen gnomAD |
|
|
CA152134881 rs972579678 |
107 | F>L | No |
ClinGen Ensembl |
|
|
rs1432776838 CA366497572 |
110 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA366497585 rs1585346318 |
112 | D>G | No |
Ensembl ClinGen |
|
|
rs1354637837 CA366497589 |
113 | A>T | No |
gnomAD ClinGen |
|
|
CA4105811 rs756087967 |
116 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4105812 rs556131065 |
116 | S>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4105815 rs778752194 |
118 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 118 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17860634 CA4105816 |
118 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771802042 CA4105817 |
119 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs778214427 CA4105818 |
121 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs374781539 CA4105819 RCV000601055 |
122 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366497660 rs1486879571 |
124 | L>R | No |
ClinGen TOPMed |
|
|
rs1457472874 CA366497672 |
126 | L>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs1190582608 CA366497680 |
127 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs764891278 CA4105821 |
127 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4105820 rs771533881 |
127 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4105823 rs769832428 |
131 | S>L | No |
ExAC gnomAD ClinGen |
|
|
rs973561644 COSM1283833 CA152134992 |
135 | R>* | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
CA152134999 rs921578410 |
135 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs184359209 CA4105825 |
136 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs764239580 CA4105826 |
137 | L>S | No |
ExAC gnomAD ClinGen |
|
|
CA152135006 rs953176404 |
138 | G>D | No |
ClinGen TOPMed |
|
|
CA366497802 rs1415409212 |
145 | G>R | No |
ClinGen gnomAD |
|
|
CA4105845 rs774418307 |
147 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4105848 rs776438180 |
149 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766122955 CA4105847 |
149 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1272207278 CA366497834 |
150 | F>V | No |
TOPMed ClinGen |
|
|
rs1214386276 CA366497846 |
151 | L>P | No |
gnomAD ClinGen |
|
|
CA4105850 rs746262224 |
154 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235435096 CA366497873 |
155 | L>R | No |
ClinGen gnomAD |
|
|
rs150622904 CA4105852 |
157 | S>P | No |
ESP ExAC TOPMed ClinGen |
|
|
CA366497905 rs1409144364 |
160 | E>D | No |
ClinGen gnomAD |
|
|
rs763855176 CA4105853 |
162 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4105855 rs756893835 |
164 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366497959 rs1193951294 |
168 | S>C | No |
ClinGen gnomAD |
|
|
rs746169572 CA4105857 |
169 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs781429204 CA4105856 |
169 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1197189335 CA366498122 |
170 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1274562441 CA366498137 |
171 | N>K | No |
ClinGen TOPMed |
|
|
rs149810482 CA4105883 |
172 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745705232 CA4105885 |
173 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs778130668 CA366498143 |
173 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA4105887 rs530069069 |
174 | K>N | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA366498162 rs1363075657 |
176 | F>V | No |
TOPMed ClinGen |
|
|
rs1131691797 CA366498169 COSM1487479 RCV000492910 |
177 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated ClinVar NCI-TCGA dbSNP |
|
rs146333454 CA4105889 |
180 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366498188 rs1464232347 |
180 | P>S | No |
gnomAD ClinGen |
|
|
CA366498194 rs1388230310 |
181 | C>Y | No |
gnomAD ClinGen |
|
|
rs761378032 CA4105891 |
185 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs1330438411 CA366498225 |
186 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA366498226 rs779208498 |
186 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4105892 rs779208498 |
186 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
RCV000515104 rs74451194 CA4105896 |
188 | V>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs760283844 CA4105895 |
188 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754178113 CA4105897 |
189 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA366498243 rs1217664485 |
189 | L>S | No |
gnomAD ClinGen |
|
|
rs752779557 CA4105900 |
190 | W>* | No |
ExAC gnomAD ClinGen |
|
|
CA4105899 rs779471283 |
190 | W>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4105901 rs758485308 |
191 | H>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758485308 CA4105902 |
191 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366498255 rs1265948428 |
191 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747264195 CA4105904 |
192 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs765059543 CA152136776 |
193 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748248575 CA4105905 COSM1076178 |
194 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4105907 rs749040943 |
195 | S>L | No |
ExAC gnomAD ClinGen |
|
|
rs1459303410 CA366498304 |
199 | I>V | No |
gnomAD ClinGen |
|
|
CA4105908 rs768539080 |
200 | P>S | No |
ExAC ClinGen |
|
|
CA4105929 rs778534568 |
203 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748141217 CA4105930 COSM3782036 COSM3782037 |
206 | M>V | ovary pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs771939745 CA4105931 CA4105932 |
207 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4105933 rs746522776 |
208 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366498449 rs746522776 |
208 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4105934 rs770631548 |
211 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA366498507 rs1180373506 |
213 | G>R | No |
ClinGen gnomAD |
|
|
rs1419470133 CA366498537 |
215 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs765662599 CA4105937 |
216 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113364740 CA152137548 |
217 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 218 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763563484 CA4105939 |
219 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs764624279 CA4105941 |
220 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4105940 rs764624279 |
220 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA366498621 rs1563014752 |
221 | Y>C | No |
ClinGen Ensembl |
|
|
CA152137565 rs549327505 |
223 | Q>K | No |
Ensembl ClinGen |
|
|
rs1313400824 CA366498668 |
225 | T>A | No |
Ensembl ClinGen |
|
|
rs369136379 CA4105944 |
226 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366498684 rs1311879045 |
227 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756243360 CA4105946 |
228 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA366498695 rs1338272854 |
229 | L>W | No |
ClinGen Ensembl |
|
|
CA4105948 rs747871613 |
230 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs758402017 CA4105949 |
230 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA4105950 rs777678500 |
231 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs746574136 CA4105951 COSM1076179 |
232 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA4105952 rs770400276 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4105953 rs775961329 |
235 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366498749 rs745553707 |
238 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4105954 rs745553707 |
238 | T>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs745553707 CA366498748 |
238 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366498758 rs1427094992 |
240 | L>I | No |
ClinGen gnomAD |
|
|
CA152137693 rs775923894 |
241 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775923894 CA4105956 |
241 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1373333902 CA366498774 |
242 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA366498772 rs1563014969 |
242 | D>Y | No |
ClinGen Ensembl |
|
|
rs763405923 CA4105957 |
243 | L>M | No |
ExAC gnomAD ClinGen |
|
|
rs1328809405 CA366498798 |
246 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764755049 CA4105958 |
247 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs142502098 CA4105985 |
248 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs142502098 CA4105986 |
248 | D>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA366498828 rs1319649932 |
249 | V>I | No |
ClinGen gnomAD |
|
|
rs751293936 CA4105988 |
250 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs927938878 CA152138425 |
250 | T>S | No |
TOPMed ClinGen |
|
|
rs1317914752 CA366498856 |
253 | V>L | No |
ClinGen TOPMed |
|
|
rs1327060876 CA822532729 |
253 | V>Y | No |
TOPMed ClinGen |
|
|
rs776195986 CA4105991 |
254 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs910165584 CA152138434 |
261 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201697973 CA4105994 |
261 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421658494 CA366498915 |
262 | M>L | No |
ClinGen gnomAD |
|
|
rs768368057 CA4105995 |
262 | M>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000930327 CA4105996 rs77857406 |
263 | K>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA366498931 rs1170095555 |
264 | S>Y | No |
TOPMed ClinGen |
|
|
rs117663755 CA4105997 |
265 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366498982 rs1376710849 |
271 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366498977 rs1415341863 |
271 | M>L | No |
TOPMed gnomAD ClinGen |
|
|
rs905901498 CA152138456 |
273 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs145823770 CA152138468 |
275 | W>* | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1202853834 CA366499005 |
275 | W>R | No |
TOPMed ClinGen |
|
|
CA366499008 rs145823770 |
275 | W>S | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1442439590 CA366499019 |
276 | E>D | No |
ClinGen gnomAD |
|
|
RCV000601525 rs573003364 RCV000923266 CA4106000 |
276 | E>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs1211833767 CA366499022 |
277 | V>F | No |
gnomAD ClinGen |
|
|
CA366499030 rs1235317930 |
278 | A>G | No |
ClinGen gnomAD |
|
|
rs369850906 CA4106001 |
279 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs759764706 CA4106003 |
280 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4106005 rs751418596 |
281 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs767540229 CA4106007 |
285 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
CA4106008 rs750296223 |
286 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756037767 CA4106009 |
286 | R>K | No |
ExAC gnomAD ClinGen |
|
|
CA366499095 rs1163103838 |
286 | R>S | No |
TOPMed ClinGen |
|
|
rs1250528341 CA366499101 |
287 | F>S | No |
ClinGen gnomAD |
|
|
CA366499120 rs1563018354 |
290 | C>R | No |
Ensembl ClinGen |
|
|
rs778015429 CA4106035 |
290 | C>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs953652750 CA366499127 |
291 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
CA152139591 rs953652750 |
291 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757825330 CA4106037 |
292 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4106039 rs745993112 |
292 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4106038 rs781652565 |
292 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757825330 CA366499132 |
292 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs1263524338 CA366499152 |
295 | L>P | No |
ClinGen TOPMed |
|
|
CA366499159 rs1391412643 |
296 | T>I | No |
gnomAD ClinGen |
|
|
rs769832436 CA4106040 |
297 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA366499181 rs1173190247 |
300 | T>A | No |
gnomAD ClinGen |
|
|
rs1227897020 CA366499187 |
301 | G>R | No |
ClinGen TOPMed |
|
|
CA4106044 rs772948421 |
303 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 306 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366499236 rs1357433919 |
308 | T>K | No |
ClinGen gnomAD |
|
|
CA4106046 rs766468842 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA366499261 rs1563018607 |
312 | C>Y | No |
Ensembl ClinGen |
|
|
rs200514757 CA4106048 |
314 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs138317518 CA4106049 |
314 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA152142519 rs759208010 |
322 | T>A | No |
ClinGen gnomAD |
|
|
CA366499338 rs1452345539 |
322 | T>I | No |
TOPMed gnomAD ClinGen |
|
|
CA366499337 rs1452345539 |
322 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763698481 CA4106073 |
324 | L>R | No |
ExAC gnomAD ClinGen |
|
|
rs1403883195 CA366499359 |
326 | T>A | No |
ClinGen gnomAD |
|
|
rs200063598 CA152142532 |
326 | T>I | No |
Ensembl ClinGen |
|
|
rs200063598 CA152142526 |
326 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
rs1562334497 CA366499369 |
328 | F>L | No |
ClinGen Ensembl |
|
|
CA366499380 rs1302229766 |
329 | D>G | No |
ClinGen gnomAD |
|
|
CA4106090 rs745650431 |
331 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 334 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152143411 rs556539571 |
336 | L>F | No |
Ensembl ClinGen |
|
|
rs1364697197 CA366499457 |
338 | D>G | No |
ClinGen TOPMed |
|
|
CA366499483 rs1200287565 |
342 | N>D | No |
ClinGen gnomAD |
|
|
CA4106092 rs775472068 |
342 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA152143424 rs111368729 |
344 | L>P | No |
Ensembl ClinGen |
|
|
rs748785985 CA4106093 |
346 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768243938 CA152143434 |
347 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs983247294 CA152143444 |
348 | L>P | No |
ClinGen TOPMed |
|
|
rs959946018 CA152143439 |
348 | L>V | No |
TOPMed ClinGen |
|
| TCGA novel | 349 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268868000 CA366499527 |
349 | G>E | No |
ClinGen gnomAD |
|
|
CA4106095 rs371567207 |
351 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4106096 rs761466616 |
352 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs773626265 COSM69963 CA4106098 |
353 | M>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs767087847 COSM1442336 CA4106097 |
353 | M>V | large_intestine [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA4106123 rs766790236 |
357 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4106124 rs367967047 |
358 | D>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA366500220 rs1273916672 |
360 | L>R | No |
ClinGen TOPMed |
|
|
rs930560626 CA152144052 |
361 | N>K | No |
TOPMed gnomAD ClinGen |
|
|
CA4106125 rs760098067 |
366 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs765837818 CA4106126 |
367 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4106127 rs367621676 |
367 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106129 rs764448531 |
368 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs758525577 CA4106128 |
368 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751836253 CA4106130 |
370 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA366500388 rs1387674710 |
370 | D>H | No |
ClinGen gnomAD |
|
|
CA366500390 rs1387674710 |
370 | D>Y | No |
gnomAD ClinGen |
|
|
rs1381033862 CA366500424 |
371 | H>Q | No |
ClinGen gnomAD |
|
|
RCV000438311 RCV002059615 CA4106131 rs61738268 |
371 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4106132 rs199576746 |
372 | L>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1351477799 CA366500464 |
374 | H>Y | No |
TOPMed ClinGen |
|
|
CA4106135 rs370300342 |
375 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304348951 CA366500502 |
376 | E>D | No |
ClinGen gnomAD |
|
|
rs778801668 CA4106136 |
377 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366500506 rs1392300862 |
377 | I>V | No |
TOPMed ClinGen |
|
|
rs747697613 CA4106137 |
378 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4106139 rs559838364 |
378 | N>K | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA152144098 rs1010292906 |
379 | L>F | No |
ClinGen TOPMed |
|
|
CA366500550 rs570418535 |
380 | H>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4106140 rs570418535 |
380 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 380 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366500546 rs1160835565 |
380 | H>Y | No |
ClinGen TOPMed |
|
|
CA4106141 rs770425689 |
381 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1196919947 CA366500583 |
382 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 385 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283197091 CA366500619 |
385 | E>A | No |
TOPMed gnomAD ClinGen |
|
|
rs777124768 CA4106142 |
386 | T>A | No |
ExAC ClinGen |
|
|
rs759810454 CA4106144 |
387 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4106145 RCV000425299 rs151283330 RCV000486312 |
388 | N>D | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
| TCGA novel | 388 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366500665 rs1269585236 |
389 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA366500677 rs1355690114 |
389 | Q>H | No |
ClinGen TOPMed |
|
|
CA366500673 rs1210561302 |
389 | Q>R | No |
ClinGen TOPMed |
|
|
CA4106146 rs776104892 |
391 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4106147 rs763512038 |
392 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA4106149 rs751533992 |
395 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA152144151 rs1000444200 |
397 | L>V | No |
ClinGen TOPMed |
|
|
CA4106150 rs139634957 |
400 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152144159 rs201926332 |
400 | R>T | No |
ClinGen 1000Genomes |
|
|
CA4106152 rs571271480 |
402 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366500844 rs1403644984 |
404 | D>N | No |
ClinGen gnomAD |
|
|
rs368531582 CA4106153 |
406 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379013848 CA366500914 |
409 | V>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1457383942 CA366500935 |
411 | K>E | No |
TOPMed ClinGen |
|
|
CA366500940 rs1411000533 |
411 | K>R | No |
TOPMed ClinGen |
|
|
rs761785031 CA152148078 |
414 | S>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366501960 rs1354056492 |
414 | S>A | No |
TOPMed ClinGen |
|
|
rs761785031 CA4106169 |
414 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767822428 CA4106170 |
415 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366501972 rs1237705975 |
415 | A>S | No |
ClinGen TOPMed |
|
|
CA366501977 rs767822428 |
415 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000239187 rs143351214 RCV000954262 CA4106172 |
416 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4106173 rs143351214 |
416 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4106175 rs758400112 |
417 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152148121 rs777106188 |
419 | L>F | No |
Ensembl ClinGen |
|
|
CA152148122 rs777562745 |
420 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4106176 rs777562745 |
420 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs780709381 CA4106179 |
421 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 423 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152148155 rs780569380 |
423 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781458931 CA4106181 |
423 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4106182 rs780569380 |
423 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4106183 rs749663775 |
424 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs372521889 CA4106184 |
425 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366502115 rs1284270404 |
426 | Y>C | No |
ClinGen Ensembl |
|
|
rs559688946 CA4106185 |
426 | Y>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA366502125 rs1400257718 |
427 | S>G | No |
ClinGen gnomAD |
|
|
rs1025265492 CA152148175 |
427 | S>I | No |
Ensembl ClinGen |
|
|
rs1195286218 CA366502135 |
427 | S>R | No |
ClinGen TOPMed |
|
|
rs748650121 CA4106186 |
428 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951044489 CA152148182 |
428 | S>P | No |
ClinGen Ensembl |
|
|
rs1016642000 CA152148192 |
429 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs752611527 CA4106187 |
429 | R>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001255044 rs752611527 CA366502155 |
429 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
rs752611527 CA4106188 |
429 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1256408417 CA366502159 |
430 | C>R | No |
TOPMed ClinGen |
|
|
CA4106189 rs760892922 |
431 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs375856725 CA4106190 COSM1195069 |
432 | P>L | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs375856725 CA4106191 |
432 | P>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1232252655 CA366502183 |
432 | P>T | No |
TOPMed ClinGen |
|
|
rs1217632204 CA366502205 |
433 | V>A | No |
ClinGen gnomAD |
|
|
CA366502195 rs1490196431 |
433 | V>I | No |
ClinGen gnomAD |
|
|
CA366502226 rs1264055672 |
435 | Q>* | No |
gnomAD ClinGen |
|
| TCGA novel | 435 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs937571824 CA152148245 |
437 | K>E | No |
ClinGen Ensembl |
|
|
rs764136153 CA4106193 |
438 | K>N | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 438 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366502266 rs1445126031 |
438 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366503137 rs1039278905 |
440 | V>L | No |
gnomAD ClinGen |
|
|
CA152150438 rs1039278905 |
440 | V>M | No |
ClinGen gnomAD |
|
|
CA4106221 rs534206894 |
442 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs76173501 CA152150484 |
443 | C>* | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106224 rs771034185 |
443 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778233621 CA4106223 |
443 | C>R | No |
ExAC gnomAD ClinGen |
|
|
CA4106222 rs778233621 |
443 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4106226 rs746088034 |
444 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366503196 rs1166272339 |
444 | E>K | No |
TOPMed ClinGen |
|
|
CA4106227 rs769990453 |
446 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs372782914 CA4106228 |
446 | S>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA366503249 rs1162689193 |
447 | I>L | No |
ClinGen TOPMed |
|
|
CA152150528 rs930515684 |
449 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366503305 rs1234477941 |
453 | L>V | No |
TOPMed ClinGen |
|
|
rs761653926 CA4106229 |
454 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs772184520 CA4106231 |
456 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA366503339 COSM1076182 rs376417698 |
457 | E>* | endometrium [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs376417698 CA4106234 |
457 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3783959 COSM3783960 CA4106237 rs753334453 |
458 | E>* | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4106236 rs753334453 |
458 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
CA4106238 rs149969888 |
460 | T>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA366503363 rs758762077 |
461 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758762077 CA4106240 |
461 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753055564 CA4106239 |
461 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1252873149 CA366503367 |
462 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs752079488 CA4106242 |
464 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4106243 rs757700536 |
465 | R>K | No |
ExAC gnomAD ClinGen |
|
|
CA4106264 rs750516456 |
467 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs1164726484 CA366503415 |
468 | D>N | No |
ClinGen gnomAD |
|
|
rs376549574 CA4106265 |
469 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4106266 rs779956919 |
470 | S>F | No |
ExAC gnomAD ClinGen |
|
|
rs1302840047 CA366503437 |
471 | E>K | No |
gnomAD ClinGen |
|
|
rs1346008624 CA366503448 |
472 | T>I | No |
gnomAD ClinGen |
|
|
rs1286878258 CA366503458 |
474 | A>P | No |
gnomAD ClinGen |
|
|
rs367909990 CA4106268 |
474 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen NCI-TCGA |
|
CA4106269 rs777778531 |
476 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4106272 rs145096170 |
482 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1442340 CA4106273 rs776602765 |
483 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1384142143 CA366503534 |
485 | E>A | No |
gnomAD ClinGen |
|
|
rs200218286 CA4106277 |
485 | E>D | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA4106275 rs769372457 |
485 | E>K | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4106279 rs774753478 |
487 | Y>F | No |
ExAC TOPMed ClinGen |
|
|
CA366503556 rs1455869610 |
488 | H>Q | No |
TOPMed ClinGen |
|
|
rs762142065 CA4106280 |
488 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 488 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4106282 rs750970757 |
490 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA4106283 rs756529465 |
491 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1157791062 CA366503575 |
491 | P>S | No |
TOPMed ClinGen |
|
|
rs1157144191 CA366503581 |
492 | E>A | No |
ClinGen gnomAD |
|
|
rs1301525532 CA366503584 |
492 | E>D | No |
ClinGen gnomAD |
|
|
CA366503586 rs1470113243 |
493 | N>D | No |
ClinGen gnomAD |
|
|
CA366503590 rs1562349282 |
493 | N>S | No |
Ensembl ClinGen |
|
|
CA4106285 rs144908519 |
494 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106284 RCV000969786 RCV001819095 rs144908519 |
494 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4106286 rs202050991 |
494 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106287 rs202050991 |
494 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA366503594 rs144908519 |
494 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA152151380 rs1007180518 |
496 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1007180518 CA366503616 |
496 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1585417679 CA366503680 |
499 | D>V | No |
Ensembl ClinGen |
|
|
CA4106291 rs41265401 |
502 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4106292 rs745835702 |
503 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000427225 CA4106293 rs113995515 |
505 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4106295 rs369069511 |
507 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775128511 CA4106294 |
507 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4106296 rs369069511 |
507 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152151972 rs1014592080 |
508 | W>* | No |
Ensembl ClinGen |
|
|
rs151101275 CA4106341 |
509 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106339 rs147084771 |
509 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106340 rs147084771 |
509 | P>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA366504261 rs1270689528 |
510 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1445967928 CA366504269 |
511 | L>P | No |
gnomAD ClinGen |
|
|
CA366504273 rs1181189574 |
512 | L>V | No |
ClinGen gnomAD |
|
|
CA4106342 rs141044415 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs775773795 CA4106344 |
513 | R>H | No |
ExAC TOPMed ClinGen |
|
|
rs1331520962 CA366504285 |
514 | E>G | No |
ClinGen TOPMed |
|
|
rs762923416 CA4106345 |
516 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366504324 rs1455960783 |
520 | V>F | No |
ClinGen gnomAD |
|
|
rs150260092 CA4106346 |
521 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA152152025 rs879599168 |
522 | T>P | No |
Ensembl ClinGen |
|
|
rs1310696125 CA366504350 |
524 | F>L | No |
gnomAD ClinGen |
|
|
rs1562350489 CA366504356 |
525 | C>F | No |
ClinGen Ensembl |
|
|
CA4106351 rs753562737 |
526 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754966263 CA4106352 |
527 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs138950997 CA4106354 |
528 | I>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106355 rs757875409 |
529 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152152049 rs757875409 |
529 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141119961 CA4106356 RCV000837948 |
530 | L>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA152152060 rs969610498 |
532 | V>A | No |
Ensembl ClinGen |
|
|
CA366504405 rs1254872144 |
534 | V>A | No |
ClinGen gnomAD |
|
|
CA4106357 rs746652144 |
534 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1562350675 RCV000780225 CA366504417 |
536 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs537314791 CA4106358 |
537 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 537 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202192406 CA4106359 |
537 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA152152088 rs386708934 |
540 | S>G | No |
ClinGen Ensembl |
|
|
RCV000420811 CA4106361 rs4716346 VAR_033300 |
540 | S>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366504445 rs559633528 |
541 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559633528 CA4106363 |
541 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4106364 rs768643072 |
544 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA366504469 rs1309471763 |
544 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
rs774432039 CA4106365 |
545 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4106366 rs201722909 |
545 | R>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4106367 rs767713110 |
546 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366504489 rs1325331347 |
547 | S>F | No |
gnomAD ClinGen |
|
|
CA366504515 rs1207947803 |
549 | Q>K | No |
gnomAD ClinGen |
|
|
CA366504562 rs1255325418 |
551 | T>N | No |
ClinGen gnomAD |
|
|
rs1197004359 CA366504827 |
552 | V>I | No |
gnomAD ClinGen |
|
|
rs759294481 CA4106369 |
554 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA152152159 rs988598775 |
554 | S>P | No |
Ensembl ClinGen |
|
|
CA152152172 rs913917125 |
559 | R>K | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 560 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4106373 rs763513249 |
561 | W>C | No |
ExAC gnomAD ClinGen |
|
|
rs758294920 CA4106372 |
561 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554241168 CA4106374 |
562 | V>M | No |
ClinGen Ensembl |
|
|
rs751071555 CA4106376 |
563 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4106377 rs200319641 |
565 | T>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA366504911 rs1462603102 |
565 | T>P | No |
ClinGen gnomAD |
|
|
rs144545763 CA4106379 |
566 | L>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106380 rs144545763 |
566 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144545763 CA366504918 |
566 | L>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106382 rs148443367 |
567 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780419126 CA4106381 |
567 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA366504927 rs1245742548 |
568 | S>F | No |
ClinGen TOPMed |
|
|
rs141740739 CA4106383 |
569 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774361460 CA4106384 |
569 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774361460 CA152152308 |
569 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748237304 CA4106385 |
570 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772319921 CA4106387 |
570 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA4106389 rs760835757 |
571 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs371767163 CA366504937 |
571 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs371767163 CA4106390 |
571 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760835757 CA4106388 |
571 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4106391 rs189578473 |
573 | N>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA366504965 rs1436484133 |
575 | L>P | No |
gnomAD ClinGen |
|
|
CA366504963 rs1189818671 |
575 | L>V | No |
gnomAD ClinGen |
|
|
CA4106393 rs530707025 |
576 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs140632188 CA4106394 |
576 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs530707025 CA4106392 |
576 | R>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1388410307 CA366504976 |
577 | M>I | No |
ClinGen gnomAD |
|
|
CA4106396 rs750125522 |
578 | W>* | No |
ExAC gnomAD ClinGen |
|
|
rs1367646053 CA366504996 |
580 | S>G | No |
ClinGen gnomAD |
|
|
CA366504999 rs1318640298 |
580 | S>T | No |
TOPMed ClinGen |
|
|
CA4106419 rs144182193 |
581 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1471820808 CA366505036 |
585 | S>T | No |
ClinGen gnomAD |
|
|
rs75393682 CA152154722 |
586 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA366505044 rs1357211234 |
586 | P>S | No |
ClinGen TOPMed |
|
|
rs780278109 CA4106423 CA152154728 |
587 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4106425 rs781448775 |
591 | I>M | No |
ExAC gnomAD ClinGen |
|
|
rs1387581869 CA366505074 |
591 | I>T | No |
ClinGen gnomAD |
|
|
CA4106426 rs746041255 |
594 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366505097 rs1375036916 |
595 | I>T | No |
ClinGen gnomAD |
|
|
CA366505093 rs1279808828 |
595 | I>V | No |
gnomAD ClinGen |
|
|
CA4106428 rs199815030 |
596 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs1373693454 CA366505106 |
597 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 598 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152154793 rs139551055 |
599 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4106434 rs776366947 |
601 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs776366947 CA366505133 |
601 | N>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759052067 CA4106435 |
602 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA366505143 rs1233716895 |
603 | H>D | No |
gnomAD ClinGen |
|
|
CA366505148 rs1254738864 |
603 | H>L | No |
TOPMed ClinGen |
|
|
CA366505156 rs1484173278 |
604 | A>V | No |
gnomAD ClinGen |
|
|
rs765636012 CA4106436 |
606 | C>W | No |
ExAC gnomAD ClinGen |
|
|
rs1198056093 CA366505166 |
606 | C>Y | No |
TOPMed ClinGen |
|
|
rs926896959 CA152154833 |
607 | G>E | No |
TOPMed ClinGen |
|
|
rs753052792 CA4106437 |
607 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs758957374 CA4106438 |
609 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs751682550 CA4106440 |
610 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs201637565 CA4106441 |
610 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1336415444 CA366505198 |
611 | H>R | No |
TOPMed ClinGen |
|
|
rs746119596 CA4106443 |
616 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
CA152154863 rs923894450 |
616 | Y>H | No |
ClinGen TOPMed |
|
|
CA366505274 rs1344749022 |
620 | V>L | No |
ClinGen gnomAD |
|
|
rs757650418 CA4106461 |
622 | S>L | No |
ExAC gnomAD ClinGen |
|
|
rs1312942807 CA366505311 |
625 | Q>R | No |
ClinGen TOPMed |
|
|
rs527275523 CA152156574 |
627 | T>M | No |
ClinGen Ensembl |
|
|
CA4106465 rs370362341 |
628 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187367904 CA366505361 |
633 | Y>D | No |
gnomAD ClinGen |
|
|
CA4106467 rs537038839 |
634 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000428565 CA4106469 RCV002525438 rs552023965 |
634 | T>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
CA4106468 rs537038839 |
634 | T>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA366505384 rs151319719 |
636 | Y>* | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA366505388 rs1405133707 |
637 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA366505386 COSM279448 rs1405133707 |
637 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA366505399 rs1321848534 |
638 | K>R | No |
ClinGen gnomAD |
|
|
CA366505409 rs780809667 |
639 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1439738949 CA366505435 |
643 | E>K | No |
ClinGen TOPMed |
|
|
CA366505446 rs1433467057 |
644 | T>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1475216871 CA366505461 |
646 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs868029831 CA152156681 |
648 | T>K | No |
Ensembl ClinGen |
|
|
CA152156684 rs769472207 |
649 | H>L | No |
ExAC gnomAD ClinGen |
|
|
rs769472207 CA366505478 |
649 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4106474 rs769472207 |
649 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs538859014 CA4106478 |
652 | L>* | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs538859014 CA4106476 |
652 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538859014 CA4106477 |
652 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 653 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 657 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489825665 CA366505534 |
657 | T>S | No |
ClinGen TOPMed |
|
|
CA366505540 rs1207991303 |
658 | F>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1207991303 CA366505539 |
658 | F>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA366505545 rs1585437814 |
659 | S>G | No |
Ensembl ClinGen |
|
|
RCV000608423 rs117593791 RCV001860332 CA4106480 |
659 | S>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 661 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021243611 CA152156757 |
662 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1472702916 CA366505580 |
663 | Q>H | No |
gnomAD ClinGen |
|
|
CA366505587 rs1335633756 |
664 | M>I | No |
gnomAD ClinGen |
|
|
CA4106482 rs750564749 |
664 | M>L | No |
ExAC gnomAD ClinGen |
|
|
CA4106484 rs199917562 |
666 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760807782 CA4106483 |
666 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs1403077206 CA366505606 |
667 | H>R | No |
gnomAD ClinGen |
|
|
CA366505604 rs1320404866 |
667 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1332487314 CA366505630 |
670 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA152156788 rs572420373 |
674 | S>R | No |
ClinGen 1000Genomes |
|
|
rs1041899050 COSM1442342 CA152156796 |
675 | K>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
rs1419842423 CA366505663 |
675 | K>N | No |
ClinGen TOPMed |
|
|
CA366505669 rs1229195934 |
676 | V>A | No |
gnomAD ClinGen |
|
|
CA4106485 rs754126094 |
676 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs1290021702 CA366505672 |
677 | L>F | No |
ClinGen gnomAD |
|
|
CA4106487 rs372564939 |
678 | L>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs751296559 CA4106488 |
679 | L>R | No |
ExAC TOPMed gnomAD ClinGen |
1 associated diseases with Q5T6L9
[MIM: 615544]: Periventricular nodular heterotopia 6 (PVNH6)
A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. {ECO:0000269|PubMed:24056535}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. {ECO:0000269|PubMed:24056535}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q5T6L9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Domain of unknown function DUF4209 | 133 - 213 | IPR025209 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVLIGDPIT | TCLSPSVYDI | ICNLGFQLRE | NCDINSIVTQ | NGEVCWKTIT | DCVSYTESEQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GLDYWGSVRL | LGPVCEAVHS | HFLSLTKGQF | EIRYAPWFQW | TSFPELFPEI | FDALESLQSP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AISLSLMKLT | SCLERALGDV | FLLIGKECPF | LLRDLLSSEE | LAQVFSQSVM | NVLKVFVGSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CGLNLRNVLW | HGFASPEEIP | PKYCSMMILL | TAGLGQLLKS | YLQNTKLTLA | HRSFISLTNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EDLIVFPDVT | YEVLSVLEEV | MMKSAFILKI | MLPYWEVALV | KFKSHRFADC | AILLLTQLET |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLRNVFATLN | RCPKRLLTAE | STALYTTFDQ | ILAKHLNDGK | INQLPLFLGE | PAMEFLWDFL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NHQEGPRIRD | HLSHGEINLH | EFSKETTNQL | LAFSLVLLLR | FVDDCLLSVF | KEKSAVELLI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLAEGYSSRC | HPVFQLKKQV | LSCEESIRVW | ALLPFPEELT | RQAVRLEDNS | ETNACHSLIT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KMTDELYHHM | PENRCVLKDL | DRLPTETWPQ | LLRELCSTPV | PTLFCPRIVL | EVLVVLRSIS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EQCRRVSSQV | TVASELRHRQ | WVERTLRSRQ | RQNYLRMWSS | IRLLSPVLSL | ILLLIALELV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NIHAVCGKNA | HEYQQYLKFV | KSILQYTENL | VAYTSYEKNK | WNETINLTHT | ALLKMWTFSE |
| 670 | |||||
| KKQMLIHLAK | KSTSKVLL |