Q9UL51
SS
Gene name |
HCN2 (BCNG2) |
Protein name |
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 |
Names |
Brain cyclic nucleotide-gated channel 2 , BCNG-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:610 |
EC number |
|
Protein Class |
|
Descriptions
Hyperpolarization-activated cyclic nucleotide-gated (HCN) ion channels contribute to electrical activity in neurons and cardiomyocytes. HCN1-4 share a similar multidomain organization with an N-terminal transmembrane region, a C-terminal intracellular region (IR) and a cyclic nucleotide-binding domain (CBD). Channel opening is primarily stimulated by transmembrane elements that sense membrane hyperpolarization. In the absence of cAMP, the CBD shows steric clashes with the C-linker within IR, which become energetically unfavored. The steric clashes are eliminated by cAMP binding, which selects for a CBD state devoid of steric clashes with the tetrameric C-linker and facilitates channel opening.
Autoinhibitory domains (AIDs)
Target domain |
212-471 (Ion transport domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
212-471 (Ion transport domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Wicks NL et al. (2011) "Cytoplasmic cAMP-sensing domain of hyperpolarization-activated cation (HCN) channels uses two structurally distinct mechanisms to regulate voltage gating", Proceedings of the National Academy of Sciences of the United States of America, 108, 609-14
- Akimoto M et al. (2014) "A mechanism for the auto-inhibition of hyperpolarization-activated cyclic nucleotide-gated (HCN) channel opening and its relief by cAMP", The Journal of biological chemistry, 289, 22205-20
- Xu X et al. (2010) "Structural basis for the cAMP-dependent gating in the human HCN4 channel", The Journal of biological chemistry, 285, 37082-91
Autoinhibited structure
Activated structure
3 structures for Q9UL51
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2MPF | NMR | - | A | 521-672 | PDB |
| 3U10 | X-ray | 230 A | A | 470-672 | PDB |
| AF-Q9UL51-F1 | Predicted | AlphaFoldDB |
715 variants for Q9UL51
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086190 | 126 | S>L | FEB2; affects channel activity resulting in faster kinetics and increased current density at higher temperature compared to wild type [UniProt] | Yes | UniProt |
|
CA9018222 rs772145901 VAR_086191 |
246 | V>M | EIG17; associated with disease susceptibility; gain-of-function variant; affects channel activity resulting in a depolarizing shift in activation and faster activation kinetics compared to controls [UniProt] | Yes |
ClinGen ExAC TOPMed gnomAD UniProt |
|
RCV001263003 rs1983378020 |
374 | M>L | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402877897 rs1421243469 RCV001266658 |
462 | A>T | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
VAR_086193 rs746420784 CA9018494 |
515 | E>K | EIG17; associated with disease susceptibility; causes a large negative shift of the activation curve; homomeric mutant channels transfected into rat cortical neurons lower the threshold of action potential firing and strongly increase cell excitability when compared with wild-type channels [UniProt] | Yes |
ClinGen ExAC gnomAD UniProt |
|
RCV002525155 RCV000521631 CA9018499 rs201057562 |
524 | G>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_086194 | 632 | S>W | EIG17; associated with disease susceptibility; gain-of-function variant; affects channel activity resulting in a depolarizing shift in activation and faster activation kinetics compared to controls [UniProt] | Yes | UniProt |
|
RCV001640392 RCV000884646 RCV000239034 rs527536363 |
719 | P>missing | Febrile seizures, familial, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1230549709 VAR_086196 CA402887443 |
756 | R>C | EIG17; unknown pathological significance; does not affect channel activity [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs1316756376 RCV001266662 CA402888928 |
859 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1367514965 CA402866245 |
3 | A>S | No |
ClinGen TOPMed |
|
|
rs1199254032 CA402866312 |
6 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402866318 rs1458121943 |
7 | G>S | No |
ClinGen TOPMed |
|
|
rs1481745281 CA402866456 |
13 | S>G | No |
ClinGen TOPMed |
|
|
CA402866480 rs1600512221 |
14 | P>R | No |
ClinGen Ensembl |
|
|
CA402866493 rs1600512229 |
15 | G>C | No |
ClinGen Ensembl |
|
|
CA402866508 rs1430590473 |
16 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402866556 rs1444877577 |
17 | T>I | No |
ClinGen TOPMed |
|
|
rs918660090 CA303893610 |
17 | T>P | No |
ClinGen TOPMed |
|
|
CA402866578 rs1322574294 |
19 | A>T | No |
ClinGen TOPMed |
|
|
CA402866615 rs1368264927 |
21 | G>A | No |
ClinGen TOPMed |
|
|
CA402866611 rs1225263425 |
21 | G>R | No |
ClinGen TOPMed |
|
|
rs1166768192 CA402866642 |
22 | P>L | No |
ClinGen TOPMed |
|
|
CA402866638 rs1166768192 |
22 | P>Q | No |
ClinGen TOPMed |
|
|
CA402866646 rs1474144562 |
23 | P>Q | No |
ClinGen TOPMed |
|
|
rs1243431981 CA402866681 |
26 | P>L | No |
ClinGen TOPMed |
|
|
CA303893625 rs1027385871 |
27 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA303893628 rs952712117 |
30 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1462644711 CA402866774 |
30 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA402866762 rs952712117 |
30 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402866804 rs1213988839 |
31 | P>L | No |
ClinGen TOPMed |
|
|
rs1600512312 CA402866778 |
31 | P>T | No |
ClinGen Ensembl |
|
|
CA402866822 rs1436052598 |
32 | Q>H | No |
ClinGen TOPMed |
|
|
rs1352595038 CA402866870 |
34 | Q>H | No |
ClinGen TOPMed |
|
|
rs1310125429 CA402866887 |
35 | P>Q | No |
ClinGen gnomAD |
|
|
rs866177625 CA303893633 |
36 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866177625 CA402866907 |
36 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA402867096 rs1439555189 |
41 | P>H | No |
ClinGen TOPMed |
|
|
CA402867073 rs1439555189 |
41 | P>L | No |
ClinGen TOPMed |
|
|
CA402867061 rs1202337587 |
41 | P>S | No |
ClinGen TOPMed |
|
|
CA402867137 rs1313194590 |
43 | P>S | No |
ClinGen TOPMed |
|
|
rs1302380116 CA402867161 |
44 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402867160 rs1302380116 |
44 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1372995907 CA402867167 |
45 | P>T | No |
ClinGen TOPMed |
|
|
CA402867225 rs1600512403 |
48 | G>R | No |
ClinGen Ensembl |
|
|
CA402867267 rs1424087851 |
50 | A>V | No |
ClinGen TOPMed |
|
|
rs1220919276 CA402867278 |
51 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA402867297 rs1175317773 |
52 | P>A | No |
ClinGen TOPMed |
|
|
rs1306442698 CA402867418 |
57 | R>G | No |
ClinGen gnomAD |
|
|
rs1228598141 CA402867425 |
57 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1224045021 CA402867467 |
59 | E>V | No |
ClinGen TOPMed |
|
|
CA402867635 rs1222444128 |
66 | A>V | No |
ClinGen TOPMed |
|
|
CA402867665 rs1222208558 |
67 | D>G | No |
ClinGen gnomAD |
|
|
rs1289528625 CA402867737 |
69 | G>A | No |
ClinGen TOPMed |
|
|
CA402867741 rs1459038998 |
70 | G>S | No |
ClinGen gnomAD |
|
|
CA402867755 rs1321592369 |
70 | G>V | No |
ClinGen gnomAD |
|
|
rs1429163890 CA402867784 |
71 | P>Q | No |
ClinGen gnomAD |
|
|
rs1380703459 CA402867787 |
72 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs944114585 CA402867818 |
74 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402867830 rs1292271653 |
75 | L>I | No |
ClinGen gnomAD |
|
|
rs113534512 CA9018145 |
76 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1229890171 CA402867898 |
77 | S>R | No |
ClinGen gnomAD |
|
|
CA402867922 rs1316137430 |
78 | R>H | No |
ClinGen gnomAD |
|
|
CA402867908 rs1284615464 |
78 | R>S | No |
ClinGen gnomAD |
|
|
rs1486025763 CA402867995 CA402867999 |
80 | S>R | No |
ClinGen gnomAD |
|
|
CA402867989 rs1156621709 |
80 | S>T | No |
ClinGen TOPMed |
|
|
rs1187246548 CA402868028 |
81 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1187246548 CA402868042 |
81 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1187246548 CA402868038 |
81 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA402868046 rs1255533676 |
82 | C>S | No |
ClinGen gnomAD |
|
|
CA402868101 rs1160197073 |
83 | G>C | No |
ClinGen gnomAD |
|
|
rs1407696481 CA402868105 |
83 | G>D | No |
ClinGen gnomAD |
|
|
rs1160197073 CA402868089 |
83 | G>R | No |
ClinGen gnomAD |
|
|
rs1198583481 CA402868122 |
84 | R>H | No |
ClinGen TOPMed |
|
|
rs1198583481 CA402868124 |
84 | R>P | No |
ClinGen TOPMed |
|
|
rs1193038771 CA402868138 |
85 | P>R | No |
ClinGen TOPMed |
|
|
CA402868176 rs1600512594 |
87 | T>I | No |
ClinGen Ensembl |
|
|
CA402868225 rs1178831728 |
89 | G>D | No |
ClinGen gnomAD |
|
|
CA402868261 rs1331670715 |
90 | A>V | No |
ClinGen TOPMed |
|
|
rs1360300082 CA402868272 |
91 | A>E | No |
ClinGen gnomAD |
|
|
CA402868382 rs1269221126 |
96 | G>S | No |
ClinGen TOPMed |
|
|
CA402868439 rs1311705969 |
98 | P>R | No |
ClinGen gnomAD |
|
|
CA402868467 rs1322079191 |
100 | G>V | No |
ClinGen TOPMed |
|
|
rs1386878238 CA402868548 |
105 | G>C | No |
ClinGen TOPMed |
|
|
rs1600512646 CA402868592 |
107 | P>R | No |
ClinGen Ensembl |
|
|
rs1372302004 CA402868587 |
107 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1372302004 CA402868581 |
107 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402868604 rs1286773481 |
108 | Q>R | No |
ClinGen TOPMed |
|
|
CA402868647 rs1162669059 |
110 | S>I | No |
ClinGen gnomAD |
|
|
rs924146975 CA303893675 |
110 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1280496888 CA402868657 |
111 | P>T | No |
ClinGen gnomAD |
|
|
CA402868677 rs1468148526 |
112 | A>P | No |
ClinGen TOPMed |
|
|
CA402868684 rs1287052088 |
113 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs935565268 CA303893681 |
115 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402868738 rs1178274152 |
117 | P>S | No |
ClinGen TOPMed |
|
|
CA402868760 rs1435171126 |
118 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402868824 rs1466468614 |
123 | V>L | No |
ClinGen TOPMed |
|
|
CA402868820 rs1466468614 |
123 | V>M | No |
ClinGen TOPMed |
|
|
rs894062674 CA303893691 |
124 | S>P | No |
ClinGen TOPMed |
|
|
rs1356786673 CA402868865 |
125 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402868877 rs1258293482 |
126 | S>W | No |
ClinGen TOPMed |
|
|
CA402868900 rs1290979653 |
127 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1278212308 CA402868904 |
128 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1278212308 CA402868905 |
128 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402868913 rs1365538285 |
129 | G>R | No |
ClinGen TOPMed |
|
|
rs1242062144 CA402868933 |
131 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1450219135 CA402868942 |
131 | A>V | No |
ClinGen TOPMed |
|
|
rs1044047812 CA303893705 |
133 | G>E | No |
ClinGen TOPMed |
|
|
rs1465796696 CA402868974 |
135 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1451530288 CA402868992 |
136 | P>L | No |
ClinGen TOPMed |
|
|
rs905611560 CA303893708 |
137 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9018147 rs529984416 |
140 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560359968 CA9018149 |
141 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9018150 rs200057212 |
141 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457741225 CA402869040 |
142 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9018151 rs755611826 |
145 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16608304 RCV000440051 rs755611826 |
145 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA303893725 rs755611826 |
145 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552260789 CA9018152 |
146 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402869088 rs1379970401 |
149 | A>T | No |
ClinGen gnomAD |
|
|
rs1172334880 CA402869098 |
150 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402869097 rs1172334880 |
150 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9018154 rs772419784 |
152 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200870925 CA9018156 CA9018157 |
153 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402869111 rs200870925 |
153 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334751311 CA402869115 |
154 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA402869116 rs1334751311 |
154 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9018158 rs776987187 |
155 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759894559 CA9018159 |
155 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1301242712 CA402869139 |
158 | S>R | No |
ClinGen gnomAD |
|
|
rs1600512787 CA402869148 |
159 | Q>E | No |
ClinGen Ensembl |
|
|
CA9018162 rs763120747 |
159 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196509880 CA402869158 |
160 | A>G | No |
ClinGen gnomAD |
|
|
rs763886699 CA9018163 |
161 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751525300 CA9018164 |
163 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs757001154 CA9018165 |
164 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1370533256 CA402869193 |
165 | R>H | No |
ClinGen TOPMed |
|
|
CA402869212 rs924092284 |
168 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA303893800 rs924092284 |
168 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1206593007 CA402869219 |
169 | A>S | No |
ClinGen TOPMed |
|
|
CA9018168 rs755807857 |
175 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1407799798 CA402869259 |
176 | N>H | No |
ClinGen gnomAD |
|
|
CA402869281 rs1483104458 |
178 | F>L | No |
ClinGen TOPMed |
|
|
rs1323786354 CA402869335 |
183 | F>L | No |
ClinGen gnomAD |
|
|
CA402869388 rs1269601280 |
187 | K>Q | No |
ClinGen gnomAD |
|
|
rs1230230778 CA402869414 |
188 | A>D | No |
ClinGen gnomAD |
|
|
rs771407938 CA9018174 |
196 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs777183606 CA9018175 |
197 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA402869594 rs1166604630 |
200 | G>R | No |
ClinGen gnomAD |
|
|
CA402869609 rs1460617990 |
201 | A>S | No |
ClinGen gnomAD |
|
|
CA9018178 rs531236806 |
204 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762880557 CA9018179 |
206 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402869774 rs1351184130 |
210 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 211 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402874226 rs1600525147 |
212 | F>V | No |
ClinGen Ensembl |
|
|
rs1366719346 CA402874256 |
213 | Y>H | No |
ClinGen TOPMed |
|
|
rs766262721 CA9018208 |
213 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA9018211 rs764621033 |
216 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA402874321 rs1174243347 |
216 | F>Y | No |
ClinGen gnomAD |
|
|
rs752207831 CA9018212 |
217 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA402874352 rs752207831 |
217 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1300090791 CA402874394 |
218 | M>I | No |
ClinGen gnomAD |
|
|
rs1381640334 CA402874477 |
223 | V>M | No |
ClinGen TOPMed |
|
|
CA402874544 rs1397416724 |
226 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 232 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402874664 rs1305225702 |
232 | G>D | No |
ClinGen gnomAD |
|
|
CA402874646 rs1568364026 |
232 | G>S | No |
ClinGen Ensembl |
|
|
CA402874672 rs1235649438 |
233 | I>F | No |
ClinGen gnomAD |
|
|
rs56342526 CA402874783 |
238 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377170285 CA9018216 |
239 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA303910323 rs369971011 |
241 | T>S | No |
ClinGen ESP |
|
|
rs202115554 CA9018219 |
243 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779025391 CA9018220 |
244 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs772145901 CA303910340 |
246 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018225 rs770609291 |
250 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775291379 CA9018229 |
254 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs764890878 CA9018228 |
254 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA402875017 rs1413470155 |
257 | M>T | No |
ClinGen TOPMed |
|
|
rs993714420 COSM1002817 CA303910358 |
259 | L>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1600525339 CA402875048 |
260 | V>L | No |
ClinGen Ensembl |
|
|
CA402875074 rs1422612527 |
263 | F>L | No |
ClinGen TOPMed |
|
|
CA402875077 rs1173969754 |
264 | R>C | No |
ClinGen TOPMed |
|
|
rs1369367277 CA402875080 |
264 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA303910368 rs750946597 |
267 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018232 rs750946597 |
267 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143343881 CA402875111 |
269 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766829743 CA402875120 |
271 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766829743 CA9018234 |
271 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779125717 CA9018237 |
278 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1204121039 CA402875169 |
278 | D>H | No |
ClinGen gnomAD |
|
|
rs1467032996 CA402875176 |
279 | P>T | No |
ClinGen gnomAD |
|
|
rs114790896 CA9018241 VAR_086192 |
280 | E>K | does not affect channel activity [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9018242 rs770861509 |
281 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs775274951 CA9018246 |
288 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1392751004 COSM1002819 CA402875241 |
288 | R>H | Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763669273 CA9018248 |
292 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA402875267 rs763669273 |
292 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1381208596 CA402875293 CA402875292 |
295 | F>L | No |
ClinGen gnomAD |
|
|
rs773962337 CA402875295 CA9018249 |
296 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773962337 COSM1002820 CA402875294 |
296 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA402875326 rs1233530550 |
301 | V>M | No |
ClinGen gnomAD |
|
|
CA402875347 rs1172627589 |
304 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402875373 rs56180027 |
307 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 309 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402875401 rs1600525507 |
311 | G>V | No |
ClinGen Ensembl |
|
|
rs1412046389 CA402875403 |
312 | I>V | No |
ClinGen gnomAD |
|
|
rs1345064563 CA402875529 |
321 | R>L | No |
ClinGen gnomAD |
|
|
rs111985192 CA303910438 |
325 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1285420576 CA402875571 |
326 | V>G | No |
ClinGen TOPMed |
|
|
CA9018268 rs771549731 CA402875565 |
326 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA402875583 rs1214137659 |
327 | R>L | No |
ClinGen gnomAD |
|
|
CA402875581 rs1214137659 |
327 | R>P | No |
ClinGen gnomAD |
|
|
rs1210398175 CA402875727 |
339 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 345 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402875813 rs1376741268 |
346 | Y>D | No |
ClinGen gnomAD |
|
|
rs1600525617 CA402875851 |
349 | Q>R | No |
ClinGen Ensembl |
|
|
CA402875859 rs1600525620 |
350 | W>G | No |
ClinGen Ensembl |
|
|
CA402875889 rs1357025725 |
352 | E>G | No |
ClinGen gnomAD |
|
|
rs753808228 CA9018322 |
353 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762438756 CA9018323 |
354 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 355 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9018325 rs752383019 |
360 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA402876135 rs1287008960 |
364 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193222497 CA402876151 |
365 | M>I | No |
ClinGen gnomAD |
|
|
rs1445277271 CA402876141 |
365 | M>V | No |
ClinGen gnomAD |
|
|
rs1001461643 CA303911156 |
370 | L>F | No |
ClinGen TOPMed |
|
|
CA402876242 rs1418302883 |
373 | M>I | No |
ClinGen gnomAD |
|
|
rs1248159189 CA402876234 |
373 | M>L | No |
ClinGen gnomAD |
|
|
rs1983378176 RCV001203638 |
377 | L>H | No |
ClinVar dbSNP |
|
|
CA9018333 rs368084026 |
380 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9018335 rs772555253 |
382 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018336 rs773296554 |
388 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA402876482 rs1351941845 |
393 | D>E | No |
ClinGen gnomAD |
|
|
CA9018341 rs765023684 |
394 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA303911175 rs751153524 |
395 | P>L | No |
ClinGen TOPMed |
|
|
CA9018344 rs764006499 |
396 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402876533 rs764006499 |
396 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402876538 rs1257851366 |
397 | N>D | No |
ClinGen gnomAD |
|
|
rs756942158 CA9018346 |
398 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1185094567 CA402876569 |
399 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 403 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9018395 rs757678695 |
408 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402877338 rs1600530006 |
408 | H>R | No |
ClinGen Ensembl |
|
|
rs756318406 CA9018397 |
409 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs746045391 CA9018396 |
409 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1325058219 CA402877362 |
410 | W>C | No |
ClinGen TOPMed |
|
|
rs1397162745 CA402877359 |
410 | W>L | No |
ClinGen gnomAD |
|
|
rs1293529618 CA402877424 |
415 | S>F | No |
ClinGen gnomAD |
|
| VAR_081530 | 418 | L>V | de novo variant found in a patient with childhood apraxia of speech; unknown pathological significance [UniProt] | No | UniProt |
|
CA9018407 rs776151062 |
427 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 432 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9018411 rs757878786 |
434 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402877643 rs1262524303 |
436 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1600530101 CA402877654 |
437 | S>N | No |
ClinGen Ensembl |
|
|
CA303913586 rs756755459 |
439 | T>M | No |
ClinGen gnomAD |
|
|
CA9018415 rs780321063 |
441 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402877718 rs1348603825 |
446 | L>V | No |
ClinGen gnomAD |
|
|
CA303913621 COSM714026 rs868108592 |
448 | M>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs771951672 CA9018420 |
448 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA402877779 rs1600530127 |
453 | T>P | No |
ClinGen Ensembl |
|
|
CA402877812 rs1275953983 |
455 | Y>F | No |
ClinGen gnomAD |
|
|
rs776330413 CA9018424 |
459 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA402877877 rs1286796019 |
461 | H>Y | No |
ClinGen gnomAD |
|
|
rs147593526 CA9018427 |
464 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 467 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475663264 CA402877950 |
468 | S>T | No |
ClinGen gnomAD |
|
|
CA9018429 rs768008986 |
472 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750959680 CA9018430 |
473 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1600530207 CA402878004 |
474 | R>C | No |
ClinGen Ensembl |
|
|
CA303913661 rs200761133 |
475 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA402878037 rs1201849334 |
477 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9018473 rs761412497 |
482 | Q>R | No |
ClinGen ExAC |
|
|
rs1352224585 CA631293687 |
484 | E>P | No |
ClinGen gnomAD |
|
|
rs1331745152 CA402879030 |
486 | Y>C | No |
ClinGen gnomAD |
|
|
rs938544518 CA303916098 |
487 | M>I | No |
ClinGen gnomAD |
|
|
rs1273159851 CA402879073 |
488 | S>F | No |
ClinGen gnomAD |
|
|
CA9018481 rs751544045 |
497 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA303916157 rs751544045 |
497 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018482 rs757372318 |
497 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185705532 CA402879231 |
498 | Q>R | No |
ClinGen TOPMed |
|
|
rs750444526 CA402879267 |
500 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1193990526 CA402879286 |
502 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 504 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164797425 CA402879341 |
505 | E>D | No |
ClinGen gnomAD |
|
|
rs780035363 CA9018486 |
505 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9018487 rs368817662 |
507 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA303916217 rs948679757 |
507 | R>H | No |
ClinGen Ensembl |
|
|
CA402879424 rs778645411 |
511 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548392442 CA303916222 |
513 | F>L | No |
ClinGen Ensembl |
|
|
CA9018491 rs772686541 |
513 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs372558533 CA9018492 |
514 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402879460 rs746420784 |
515 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9018496 rs775788532 |
522 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA303916284 rs764163497 |
524 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018498 rs764163497 |
524 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900889696 CA303916294 |
525 | P>S | No |
ClinGen Ensembl |
|
|
rs1028869453 CA303916309 |
526 | L>V | No |
ClinGen Ensembl |
|
|
VAR_061106 rs55687900 CA9018503 |
527 | R>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs750356659 CA9018502 |
527 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402880867 rs1165534917 |
531 | V>F | No |
ClinGen TOPMed |
|
|
rs1165534917 CA402880866 |
531 | V>L | No |
ClinGen TOPMed |
|
|
CA9018564 rs776729513 |
534 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9018565 rs373908299 |
536 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210467872 CA402880942 |
537 | K>* | No |
ClinGen gnomAD |
|
|
CA303924226 rs979093922 |
539 | V>A | No |
ClinGen TOPMed |
|
|
CA16620908 RCV000478576 rs1064796423 |
543 | P>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA9018569 rs763934353 |
547 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352056577 CA402881116 |
548 | A>T | No |
ClinGen gnomAD |
|
|
CA402881244 rs1402718231 |
555 | A>T | No |
ClinGen gnomAD |
|
|
rs1279766685 CA402881254 |
555 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1340761061 CA402881268 |
556 | M>I | No |
ClinGen gnomAD |
|
|
CA402881266 rs1324013217 |
556 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9018573 rs749892956 |
557 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1207402097 CA402881326 |
561 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA402881345 rs747405205 |
563 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747405205 CA9018579 |
563 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402881416 rs1416436997 |
567 | P>L | No |
ClinGen gnomAD |
|
|
CA9018581 rs781281786 |
567 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402881429 rs1197168376 |
568 | G>A | No |
ClinGen TOPMed |
|
|
CA9018584 rs370039688 |
568 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9018585 rs749273022 |
569 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 569 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422157337 CA402881451 |
570 | Y>D | No |
ClinGen gnomAD |
|
|
rs1568368410 CA402881460 |
570 | Y>S | No |
ClinGen Ensembl |
|
|
rs772809911 CA9018590 |
573 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 575 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765859503 CA9018592 |
577 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1353190791 CA402881608 |
580 | K>M | No |
ClinGen gnomAD |
|
|
rs377071656 CA9018596 |
582 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402881684 rs1483818563 |
584 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA402881679 rs1483818563 |
584 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 584 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402881688 rs1181656119 |
584 | I>T | No |
ClinGen gnomAD |
|
|
CA9018599 rs746133376 |
587 | G>D | No |
ClinGen ExAC |
|
|
CA402881746 rs1380431582 |
588 | V>G | No |
ClinGen gnomAD |
|
|
CA402881738 rs1159882076 |
588 | V>M | No |
ClinGen gnomAD |
|
|
CA9018602 rs749393338 |
590 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1380438606 CA402881802 |
593 | T>S | No |
ClinGen gnomAD |
|
|
rs778828441 CA402881828 |
596 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9018604 rs778828441 |
596 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs747971801 CA402881835 |
596 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9018605 rs747971801 |
596 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs369425614 CA9018606 |
597 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402881889 rs1280934525 |
598 | E>D | No |
ClinGen gnomAD |
|
|
rs1313005049 CA402881894 |
599 | M>L | No |
ClinGen gnomAD |
|
|
rs1209810793 CA402881898 |
599 | M>T | No |
ClinGen gnomAD |
|
|
CA402881949 rs1476109971 |
602 | S>F | No |
ClinGen gnomAD |
|
|
rs1188393021 CA402881980 |
604 | G>S | No |
ClinGen TOPMed |
|
|
rs776228144 CA402882006 |
605 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018610 rs776228144 |
605 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764626122 COSM356864 CA9018612 |
606 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1410521098 CA402882058 |
607 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402882096 rs1457290877 |
609 | E>* | No |
ClinGen gnomAD |
|
|
CA402882626 rs1568369018 |
613 | L>F | No |
ClinGen Ensembl |
|
|
rs1451163873 CA402882632 |
614 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 614 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378560227 CA402882640 |
615 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1378560227 CA402882638 |
615 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747683299 CA9018693 |
615 | R>W | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 617 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781664647 CA9018695 COSM385040 |
617 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1259724375 CA402882647 |
617 | R>S | No |
ClinGen gnomAD |
|
|
rs1279092533 CA402882680 |
619 | T>M | No |
ClinGen gnomAD |
|
|
CA402882677 rs1244430704 |
619 | T>S | No |
ClinGen gnomAD |
|
|
rs139625086 CA9018699 |
621 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9018700 rs768790283 |
622 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 622 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774522429 CA9018701 |
623 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1362207541 CA402882752 |
623 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs774522429 CA402882737 |
623 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA402882756 rs761997991 |
624 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs761997991 CA9018702 |
624 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750444405 CA9018704 |
625 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402882809 rs1334019338 |
627 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA402882805 rs1468699436 |
627 | Y>C | No |
ClinGen gnomAD |
|
|
rs1262267527 CA402882835 |
629 | R>C | No |
ClinGen TOPMed |
|
|
rs766238451 CA9018707 |
630 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001195829 rs1983782523 |
630 | L>P | No |
ClinVar dbSNP |
|
|
rs766238451 CA9018706 |
630 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402882915 rs1235020687 |
632 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1326721167 CA402882992 |
637 | N>D | No |
ClinGen TOPMed |
|
|
rs528508156 CA303925355 |
637 | N>T | No |
ClinGen TOPMed |
|
|
CA9018713 rs746438804 |
639 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9018714 rs148730222 |
639 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9018716 rs749638175 |
640 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1394889641 CA402883166 |
643 | E>K | No |
ClinGen TOPMed |
|
|
rs761971328 CA9018720 |
644 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773252175 CA9018723 |
650 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs773252175 CA9018722 |
650 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388147465 CA402883430 |
650 | R>P | No |
ClinGen gnomAD |
|
|
rs1344485967 CA402883446 |
651 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1489542194 CA402883687 |
658 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1600539544 CA402883720 |
660 | L>P | No |
ClinGen Ensembl |
|
|
CA402883743 rs1600539557 |
662 | R>C | No |
ClinGen Ensembl |
|
|
rs1342645556 CA402883745 |
662 | R>H | No |
ClinGen gnomAD |
|
|
rs147575578 CA9018732 |
663 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1196240158 CA402883802 |
664 | G>S | No |
ClinGen gnomAD |
|
|
CA402885346 rs1403830443 |
665 | K>R | No |
ClinGen gnomAD |
|
|
rs757331938 CA9018796 |
666 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402885443 rs1372810920 |
667 | N>Y | No |
ClinGen gnomAD |
|
|
rs1222329963 CA402885464 |
668 | S>A | No |
ClinGen gnomAD |
|
|
rs781095317 CA9018797 |
668 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA402885478 rs1207612660 |
669 | I>L | No |
ClinGen gnomAD |
|
|
rs745972616 CA402885486 |
669 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745972616 CA9018798 |
669 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779973432 CA9018800 |
670 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761331391 CA9018804 |
674 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs771777244 CA9018805 |
676 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs760264293 CA402885837 |
678 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760264293 CA9018807 |
678 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402885881 rs1422189990 |
679 | N>T | No |
ClinGen TOPMed |
|
|
rs1163820250 CA402885938 |
681 | G>D | No |
ClinGen TOPMed |
|
|
CA9018809 rs753310782 |
682 | V>I | Variant assessed as Somatic; 0.0003696 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1568370085 CA402886001 |
683 | F>S | No |
ClinGen Ensembl |
|
|
CA402886052 rs1600542582 |
684 | N>K | No |
ClinGen Ensembl |
|
|
CA9018812 rs764410361 |
685 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA402886115 rs1281801617 |
686 | Q>K | No |
ClinGen gnomAD |
|
|
CA402886159 rs1320600191 |
687 | E>* | No |
ClinGen gnomAD |
|
|
CA303930174 rs377135260 |
687 | E>D | No |
ClinGen ESP |
|
|
CA9018813 rs751987835 |
688 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs142072194 CA9018814 |
689 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306469999 CA402886213 |
689 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1270501284 CA402886270 |
691 | I>F | No |
ClinGen gnomAD |
|
|
rs750437676 CA402886330 |
693 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018817 rs756254035 |
693 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs750437676 CA9018816 |
693 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402886339 rs1220232565 |
693 | E>V | No |
ClinGen TOPMed |
|
|
CA9018820 rs768669188 |
695 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771555738 CA9018823 |
696 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402886412 rs1408213157 |
696 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1167042206 CA402886415 |
697 | Y>N | No |
ClinGen gnomAD |
|
|
rs1473373658 CA402886424 |
697 | Y>S | No |
ClinGen gnomAD |
|
|
CA402886458 rs1600542718 |
698 | D>A | No |
ClinGen Ensembl |
|
|
rs1404622186 CA402886447 |
698 | D>Y | No |
ClinGen gnomAD |
|
|
CA402886482 rs1167775858 |
699 | R>C | No |
ClinGen gnomAD |
|
|
CA402886491 rs1432091393 |
700 | E>G | No |
ClinGen gnomAD |
|
|
CA9018825 rs746499730 |
700 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9018826 rs746499730 |
700 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9018828 rs763333305 |
704 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764686938 CA9018830 |
704 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200188844 VAR_086195 CA9018831 |
705 | A>T | does not affect channel activity [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1448460287 CA402886609 |
706 | E>D | No |
ClinGen gnomAD |
|
|
rs766404745 CA9018835 |
706 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs756165911 CA9018834 |
706 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366875972 CA402886627 |
707 | L>P | No |
ClinGen TOPMed |
|
|
rs754812356 CA9018837 |
708 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402886637 rs1361668850 |
708 | G>V | No |
ClinGen TOPMed |
|
|
CA402886647 rs778913100 |
709 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018838 rs778913100 |
709 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185477557 CA402886658 |
710 | R>C | No |
ClinGen gnomAD |
|
|
rs1419435042 CA402886666 |
710 | R>H | No |
ClinGen TOPMed |
|
|
CA9018839 rs747888265 |
711 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA402886675 rs747888265 |
711 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 712 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402886705 rs1387428236 |
713 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA402886699 rs1387428236 |
713 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA402886749 rs1318105886 |
714 | F>C | No |
ClinGen gnomAD |
|
|
rs983732176 CA402886754 |
714 | F>L | No |
ClinGen TOPMed |
|
|
rs1325148340 CA402886766 |
715 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758268453 CA9018846 |
715 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402886763 rs1325148340 |
715 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9018849 rs554597582 |
716 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9018853 rs774991416 |
717 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018854 rs774991416 |
717 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768980195 RCV001281485 CA9018852 |
717 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs773597742 CA9018856 |
718 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770800808 CA303930447 |
719 | P>L | No |
ClinGen Ensembl |
|
|
CA402886837 rs1205560863 |
719 | P>T | No |
ClinGen gnomAD |
|
|
CA402886853 rs1568370233 |
720 | P>L | No |
ClinGen Ensembl |
|
|
rs1465465029 CA402886849 |
720 | P>S | No |
ClinGen TOPMed |
|
|
rs760837694 CA9018860 |
721 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000968754 rs527536363 |
721 | P>missing | No |
ClinVar dbSNP |
|
|
CA9018861 rs572742854 |
722 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402886898 rs572742854 |
722 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402886923 rs1297172577 |
723 | V>A | No |
ClinGen TOPMed |
|
|
CA9018862 rs753793346 RCV000418676 |
723 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs753793346 CA402886912 |
723 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765070651 CA402886936 |
724 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765070651 CA9018864 |
724 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755149784 CA9018863 |
724 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1406595309 CA402886955 |
726 | A>T | No |
ClinGen TOPMed |
|
|
CA9018868 rs746826702 |
726 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018869 rs756914654 |
727 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780998820 CA9018870 |
727 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs756914654 CA303930507 |
727 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018872 rs769405251 |
728 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402887018 rs1225126845 |
729 | T>M | No |
ClinGen gnomAD |
|
|
CA402887009 rs1348354599 |
729 | T>S | No |
ClinGen gnomAD |
|
|
rs748730111 CA9018874 |
730 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1242710911 CA402887069 |
732 | Q>K | No |
ClinGen TOPMed |
|
|
rs1026463988 CA303930553 |
733 | A>T | No |
ClinGen TOPMed |
|
|
CA303930555 rs534518513 |
733 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA303930560 rs888015831 |
734 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs558779080 CA9018877 |
734 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771136359 CA9018878 |
735 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429142437 CA402887158 |
735 | A>V | No |
ClinGen gnomAD |
|
|
CA402887175 rs1300538949 |
736 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1006514014 CA303930562 |
738 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA402887224 rs1398099629 |
738 | F>L | No |
ClinGen gnomAD |
|
|
CA9018880 rs759510436 |
740 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402887270 rs1348244100 |
740 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402887268 rs1348244100 |
740 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402887287 rs1322697315 |
741 | Q>H | No |
ClinGen gnomAD |
|
|
CA402887293 rs1464702137 |
742 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs577048243 CA9018882 |
742 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402887303 rs1389463495 |
743 | A>P | No |
ClinGen TOPMed |
|
|
rs762938442 CA9018883 |
743 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA402887314 rs1248642163 |
744 | R>G | No |
ClinGen gnomAD |
|
|
rs1029397684 CA303930593 |
744 | R>Q | No |
ClinGen TOPMed |
|
|
rs1490908938 CA402887345 |
745 | P>L | No |
ClinGen gnomAD |
|
|
rs751336066 CA9018885 |
746 | L>F | No |
ClinGen ExAC |
|
|
rs987961872 CA303930597 |
746 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA402887362 rs1446739066 |
747 | V>E | No |
ClinGen TOPMed |
|
|
rs757186207 CA9018886 CA402887358 |
747 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181459036 CA402887368 |
748 | G>R | No |
ClinGen TOPMed |
|
|
CA402887381 rs1253257089 |
749 | P>L | No |
ClinGen TOPMed |
|
|
rs913772024 CA303930604 |
751 | A>T | No |
ClinGen TOPMed |
|
|
CA402887402 rs1289026232 |
751 | A>V | No |
ClinGen TOPMed |
|
|
CA303930609 rs979332071 |
753 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402887415 rs1236551643 |
753 | G>R | No |
ClinGen TOPMed |
|
|
rs937995425 CA303930622 |
757 | L>F | No |
ClinGen TOPMed |
|
|
CA402887457 rs1158236413 |
758 | V>L | No |
ClinGen TOPMed |
|
|
rs1468892810 CA402887469 |
759 | R>C | No |
ClinGen TOPMed |
|
|
rs1056885868 CA303930630 |
759 | R>H | No |
ClinGen TOPMed |
|
|
rs1600543351 CA402887477 |
760 | R>C | No |
ClinGen Ensembl |
|
|
CA402887492 rs1255027061 |
761 | P>L | No |
ClinGen gnomAD |
|
|
rs1183512863 CA402887495 |
762 | P>S | No |
ClinGen TOPMed |
|
|
CA402887508 rs1480362997 |
763 | P>L | No |
ClinGen TOPMed |
|
|
rs1480362997 CA402887507 |
763 | P>Q | No |
ClinGen TOPMed |
|
|
CA402887511 rs1213454617 |
764 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1352568623 CA402887538 |
766 | A>G | No |
ClinGen TOPMed |
|
|
rs1203052351 CA402887535 |
766 | A>T | No |
ClinGen TOPMed |
|
|
rs1288814795 CA402887549 |
767 | P>L | No |
ClinGen TOPMed |
|
|
rs1482979114 CA402887551 |
768 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs896556189 CA303930644 |
769 | A>T | No |
ClinGen TOPMed |
|
|
rs1252701128 CA402887579 |
771 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1399232912 CA402887595 |
772 | P>L | No |
ClinGen TOPMed |
|
|
rs1431491318 CA402887603 |
773 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA303930647 rs1047876427 |
773 | G>R | No |
ClinGen TOPMed |
|
|
CA402887605 rs1427753864 |
774 | P>S | No |
ClinGen TOPMed |
|
|
CA402887622 rs1202285652 |
775 | P>Q | No |
ClinGen TOPMed |
|
|
rs887908011 CA402887626 |
776 | P>A | No |
ClinGen TOPMed |
|
|
rs1006809875 CA303930672 |
776 | P>L | No |
ClinGen TOPMed |
|
|
CA303930655 rs1006809875 |
776 | P>R | No |
ClinGen TOPMed |
|
|
CA303930653 rs887908011 |
776 | P>T | No |
ClinGen TOPMed |
|
|
rs1198300072 CA402887643 |
777 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1198300072 CA402887641 |
777 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000455083 CA16609777 rs1060499864 |
778 | A>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1060499864 CA402887644 |
778 | A>T | No |
ClinGen TOPMed |
|
|
CA402887656 rs1428723593 |
779 | S>R | No |
ClinGen TOPMed |
|
|
rs1436881025 CA402887670 |
780 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402887716 rs1368474817 |
783 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1428982387 CA402887725 |
783 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402887742 rs1476128390 |
785 | A>T | No |
ClinGen TOPMed |
|
|
CA402887757 rs1248210319 |
786 | S>R | No |
ClinGen TOPMed |
|
|
CA402887776 rs1375504880 |
787 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402887782 rs1384533439 |
788 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1300071160 CA402887786 |
788 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA402887785 rs1300071160 |
788 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA402887783 rs1384533439 |
788 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA402887790 rs1371256898 |
789 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA402887789 rs1371256898 |
789 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs996509718 CA303930706 |
790 | P>L | No |
ClinGen TOPMed |
|
|
CA402887824 rs1295812381 |
792 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1341931180 CA402887828 |
792 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402887822 rs1295812381 |
792 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402887845 rs1568370428 |
793 | S>L | No |
ClinGen Ensembl |
|
|
rs1568370428 CA402887843 |
793 | S>W | No |
ClinGen Ensembl |
|
|
rs1245607027 CA402887852 |
794 | P>S | No |
ClinGen TOPMed |
|
|
rs1449219480 CA402887870 |
795 | Y>F | No |
ClinGen TOPMed |
|
|
rs1205726488 CA402887862 |
795 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1426212293 CA402887881 |
796 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA402887885 rs955102414 |
796 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA303930723 rs955102414 |
796 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402887902 rs1253721111 |
798 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402887911 rs1182188375 |
799 | P>L | No |
ClinGen TOPMed |
|
|
CA303930744 rs1020717308 |
800 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1020717308 CA402887922 |
800 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402887953 rs1357470218 |
802 | P>R | No |
ClinGen TOPMed |
|
|
rs967871823 CA303930754 |
802 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA303930765 rs979685610 |
804 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750140180 CA9018888 |
806 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456379833 CA402888012 |
806 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1412286322 CA402888026 |
807 | A>T | No |
ClinGen TOPMed |
|
|
rs1361822487 CA402888062 |
809 | P>H | No |
ClinGen gnomAD |
|
|
rs1272634052 CA402888060 |
809 | P>S | No |
ClinGen gnomAD |
|
|
rs917949180 CA303930779 |
810 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1223593610 CA402888067 |
810 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1223593610 CA402888065 |
810 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs917949180 CA402888069 |
810 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs929312987 CA402888074 |
811 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA402888081 rs1188665972 |
811 | R>H | No |
ClinGen gnomAD |
|
|
rs929312987 CA303930784 |
811 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1364064439 CA402888092 |
812 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA402888097 rs1215518731 |
812 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA402888106 rs1215518731 |
812 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA402888130 rs1282519843 |
814 | S>N | No |
ClinGen TOPMed |
|
|
rs1262992580 CA402888141 |
815 | R>H | No |
ClinGen gnomAD |
|
|
CA402888153 rs1273845204 |
816 | A>G | No |
ClinGen gnomAD |
|
|
rs1469893453 CA402888164 |
817 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1283224901 CA402888160 |
817 | S>P | No |
ClinGen TOPMed |
|
|
rs1387823256 CA402888176 |
818 | R>H | No |
ClinGen gnomAD |
|
|
rs1310532126 CA402888200 |
819 | P>L | No |
ClinGen TOPMed |
|
|
CA402888205 rs1206958243 |
820 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779567212 CA9018890 |
822 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1431483004 CA402888247 |
823 | S>* | No |
ClinGen TOPMed |
|
|
rs1191857264 CA402888302 |
826 | S>L | No |
ClinGen TOPMed |
|
|
CA402888359 rs1290437314 |
828 | P>L | No |
ClinGen gnomAD |
|
|
rs1246453198 CA402888378 |
829 | H>D | No |
ClinGen TOPMed |
|
|
CA402888397 rs1385554594 |
829 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1246453198 CA402888362 |
829 | H>Y | No |
ClinGen TOPMed |
|
|
rs1164157540 CA402888417 |
830 | G>A | No |
ClinGen gnomAD |
|
|
rs1421910983 CA402888411 |
830 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 831 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402888438 rs1381620056 |
831 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402888429 rs1568370550 |
831 | A>S | No |
ClinGen Ensembl |
|
|
CA402888425 rs1568370550 |
831 | A>T | No |
ClinGen Ensembl |
|
|
CA402888433 rs1381620056 |
831 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402888440 rs1418552065 |
832 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1385161628 CA402888455 |
833 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402888469 rs1600544005 |
833 | G>V | No |
ClinGen Ensembl |
|
|
rs1314551835 CA402888477 |
834 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402888474 rs1387437951 |
834 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402888504 rs1261726687 |
835 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA402888494 rs1218322801 |
835 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402888510 rs1261726687 |
835 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1485807181 CA402888525 |
836 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA402888523 rs1485807181 |
836 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1245651415 CA402888566 |
839 | R>H | No |
ClinGen gnomAD |
|
|
rs574907436 CA402888580 |
840 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9018893 rs574907436 |
840 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402888573 rs1445857081 |
840 | P>S | No |
ClinGen gnomAD |
|
|
CA402888588 rs1199108711 |
841 | A>G | No |
ClinGen TOPMed |
|
|
CA402888581 rs1421741453 |
841 | A>T | No |
ClinGen gnomAD |
|
|
CA402888675 rs1600544092 |
845 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 846 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402888679 rs1299321493 |
846 | P>S | No |
ClinGen TOPMed |
|
|
rs1228773874 CA402888719 |
847 | R>P | No |
ClinGen TOPMed |
|
|
CA303930855 rs113469841 |
848 | L>W | No |
ClinGen Ensembl |
|
|
CA402888737 rs959310355 |
849 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA303930879 rs1033958981 |
849 | G>R | No |
ClinGen TOPMed |
|
|
CA303930894 rs959310355 |
849 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402888754 rs1461518121 |
850 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 850 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs992075582 CA303930899 |
851 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs917842519 CA303930902 |
851 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs983434550 CA303930927 |
853 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1425948713 CA402888823 |
854 | A>T | No |
ClinGen TOPMed |
|
|
CA402888833 rs1257455454 |
854 | A>V | No |
ClinGen TOPMed |
|
|
rs747358302 CA9018894 |
855 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9018895 rs771330705 |
856 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA402888893 rs1225721542 |
857 | A>T | No |
ClinGen gnomAD |
|
|
rs1205274491 CA402888916 |
858 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759760819 CA9018897 |
860 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9018898 rs759760819 |
860 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402888961 rs1246683620 |
861 | P>L | No |
ClinGen TOPMed |
|
|
rs1389658703 CA402888972 |
862 | D>A | No |
ClinGen TOPMed |
|
|
rs933505249 CA303930945 |
862 | D>N | No |
ClinGen TOPMed |
|
|
rs1265470588 CA402888999 |
863 | R>C | No |
ClinGen gnomAD |
|
|
rs1265470588 CA402888996 |
863 | R>G | No |
ClinGen gnomAD |
|
|
rs775586517 CA9018899 |
863 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9018900 rs775586517 |
863 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA402889017 rs1372344233 |
864 | R>G | No |
ClinGen TOPMed |
|
|
CA303930965 rs1051981474 |
864 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764125612 CA303930977 |
865 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402889081 rs1430521370 |
865 | D>V | No |
ClinGen TOPMed |
|
|
rs1236427766 CA402889107 |
866 | S>L | No |
ClinGen gnomAD |
|
|
CA402889168 rs1473962918 |
868 | S>L | No |
ClinGen TOPMed |
|
|
rs1178638097 CA402889166 |
868 | S>P | No |
ClinGen gnomAD |
|
|
rs1178638097 CA402889165 |
868 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 869 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751606466 CA402889186 |
869 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402889189 rs1476180388 |
869 | P>H | No |
ClinGen gnomAD |
|
|
rs751606466 CA9018902 |
869 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042099295 CA402889202 |
870 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1042099295 CA303930990 |
870 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1400888673 CA402889219 |
871 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA402889216 rs1406617491 |
871 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1400888673 CA402889222 |
871 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402889229 rs1431291850 |
872 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 873 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600544368 CA402889253 |
873 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 874 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402889280 rs1160867693 |
875 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 875 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9018905 rs750216734 |
876 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA402889312 rs1372878001 |
877 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402889333 rs1158290199 |
878 | Q>L | No |
ClinGen TOPMed |
|
|
rs1158290199 CA402889332 |
878 | Q>R | No |
ClinGen TOPMed |
|
|
rs1285640120 CA402889341 |
879 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1324857448 CA402889364 |
880 | S>P | No |
ClinGen gnomAD |
|
|
rs1013386762 CA303931013 |
881 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402889383 rs1408546739 |
881 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402889390 rs1451753527 |
882 | R>G | No |
ClinGen TOPMed |
|
|
CA402889404 rs1223515382 |
882 | R>H | No |
ClinGen gnomAD |
|
|
rs1451753527 CA402889393 |
882 | R>S | No |
ClinGen TOPMed |
|
|
rs1287730190 CA402889428 |
883 | S>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 883 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287730190 CA402889438 |
883 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1344385887 CA402889441 |
884 | R>C | No |
ClinGen TOPMed |
|
|
TCGA novel CA402889442 rs1374184462 |
884 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1374184462 CA402889445 |
884 | R>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 884 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331846194 CA402889454 |
885 | L>F | No |
ClinGen TOPMed |
|
|
rs1600544485 CA402889461 |
886 | S>T | No |
ClinGen Ensembl |
|
|
rs1160533948 CA402889481 |
887 | S>A | No |
ClinGen TOPMed |
|
|
rs1600544497 CA402889488 |
887 | S>F | No |
ClinGen Ensembl |
2 associated diseases with Q9UL51
[MIM: 602477]: Epilepsy, idiopathic generalized 17 (EIG17)
A form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Both autosomal dominant and autosomal recessive EIG17 inheritance have been reported. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 602477]: Febrile seizures, familial, 2 (FEB2)
Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. FEB2 transmission pattern is consistent with autosomal dominant inheritance. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Both autosomal dominant and autosomal recessive EIG17 inheritance have been reported. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. FEB2 transmission pattern is consistent with autosomal dominant inheritance. . Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9UL51
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| HCN channel complex | A cation ion channel with a preference for K+ over Na+ ions, which is activated by membrane hyperpolarization, and consists of a tetramer of HCN family members. Some members of this family (HCN1, HCN2 and HCN4) are also activated when cAMP binds to their cyclic nucleotide binding domain (CNBD). Channel complexes of this family play an important role in the control of pacemaker activity in the heart. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cAMP binding | Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate). |
| identical protein binding | Binding to an identical protein or proteins. |
| intracellularly cAMP-activated cation channel activity | Enables the transmembrane transfer of a cation by a channel that opens when intracellular cAMP has been bound by the channel complex or one of its constituent parts. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| cellular response to cAMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| cellular response to cGMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cGMP (cyclic GMP, guanosine 3',5'-cyclophosphate) stimulus. |
| membrane depolarization during cardiac muscle cell action potential | The process in which cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| regulation of membrane depolarization | Any process that modulates the rate, frequency or extent of membrane depolarization. Membrane depolarization is the process in which membrane potential changes in the depolarizing direction from the resting potential, usually from negative to positive. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| sodium ion import across plasma membrane | The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
18 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O60741 | HCN1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Homo sapiens (Human) | SS |
| Q9P1Z3 | HCN3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Homo sapiens (Human) | SS |
| Q9Y3Q4 | HCN4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Homo sapiens (Human) | EV |
| O88704 | Hcn1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Mus musculus (Mouse) | SS |
| O88705 | Hcn3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Mus musculus (Mouse) | SS |
| O70507 | Hcn4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Mus musculus (Mouse) | SS |
| O88703 | Hcn2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Mus musculus (Mouse) | EV |
| Q9JKA7 | Hcn4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Rattus norvegicus (Rat) | SS |
| Q9JKB0 | Hcn1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Rattus norvegicus (Rat) | SS |
| Q9JKA8 | Hcn3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Rattus norvegicus (Rat) | SS |
| Q9JKA9 | Hcn2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Rattus norvegicus (Rat) | SS |
| Q6K3T2 | Os02g0245800 | Potassium channel KAT1 | Oryza sativa subsp japonica (Rice) | PR |
| A2ZX97 | Os01g0718700 | Potassium channel KAT6 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SKD7 | CNGC3 | Probable cyclic nucleotide-gated ion channel 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDR2 | CNGC19 | Putative cyclic nucleotide-gated ion channel 19 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SU64 | CNGC16 | Probable cyclic nucleotide-gated ion channel 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P92960 | ATHB-4 | Potassium channel KAT3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39128 | KAT1 | Potassium channel KAT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDARGGGGRP | GESPGATPAP | GPPPPPPPAP | PQQQPPPPPP | PAPPPGPGPA | PPQHPPRAEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPPEAADEGG | PRGRLRSRDS | SCGRPGTPGA | ASTAKGSPNG | ECGRGEPQCS | PAGPEGPARG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKVSFSCRGA | ASGPAPGPGP | AEEAGSEEAG | PAGEPRGSQA | SFMQRQFGAL | LQPGVNKFSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RMFGSQKAVE | REQERVKSAG | AWIIHPYSDF | RFYWDFTMLL | FMVGNLIIIP | VGITFFKDET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TAPWIVFNVV | SDTFFLMDLV | LNFRTGIVIE | DNTEIILDPE | KIKKKYLRTW | FVVDFVSSIP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VDYIFLIVEK | GIDSEVYKTA | RALRIVRFTK | ILSLLRLLRL | SRLIRYIHQW | EEIFHMTYDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ASAVMRICNL | ISMMLLLCHW | DGCLQFLVPM | LQDFPRNCWV | SINGMVNHSW | SELYSFALFK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AMSHMLCIGY | GRQAPESMTD | IWLTMLSMIV | GATCYAMFIG | HATALIQSLD | SSRRQYQEKY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KQVEQYMSFH | KLPADFRQKI | HDYYEHRYQG | KMFDEDSILG | ELNGPLREEI | VNFNCRKLVA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SMPLFANADP | NFVTAMLTKL | KFEVFQPGDY | IIREGTIGKK | MYFIQHGVVS | VLTKGNKEMK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LSDGSYFGEI | CLLTRGRRTA | SVRADTYCRL | YSLSVDNFNE | VLEEYPMMRR | AFETVAIDRL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DRIGKKNSIL | LHKVQHDLNS | GVFNNQENAI | IQEIVKYDRE | MVQQAELGQR | VGLFPPPPPP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PQVTSAIATL | QQAAAMSFCP | QVARPLVGPL | ALGSPRLVRR | PPPGPAPAAA | SPGPPPPASP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PGAPASPRAP | RTSPYGGLPA | APLAGPALPA | RRLSRASRPL | SASQPSLPHG | APGPAASTRP |
| 850 | 860 | 870 | 880 | ||
| ASSSTPRLGP | TPAARAAAPS | PDRRDSASPG | AAGGLDPQDS | ARSRLSSNL |