Q9BYX4
PR
Gene name |
IFIH1 |
Protein name |
Interferon-induced helicase C domain-containing protein 1 |
Names |
Clinically amyopathic dermatomyositis autoantigen 140 kDa, CADM-140 autoantigen, Helicase with 2 CARD domains, Helicard, Interferon-induced with helicase C domain protein 1, Melanoma differentiation-associated protein 5, MDA-5, Murabutide down-regulated protein, RIG-I-like receptor 2, RLR-2, RNA helicase-DEAD box protein 116 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64135 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for Q9BYX4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2RQB | NMR | - | A | 896-1025 | PDB |
| 3B6E | X-ray | 160 A | A | 277-490 | PDB |
| 3GA3 | X-ray | 145 A | A | 893-1017 | PDB |
| 4GL2 | X-ray | 356 A | A/B | 306-1017 | PDB |
| 7DNI | EM | 320 A | A/B/C/D | 1-208 | PDB |
| 7DNJ | EM | 330 A | A/B/C/D | 1-208 | PDB |
| 7JL0 | EM | 430 A | A | 287-1025 | PDB |
| 7JL2 | EM | 430 A | A/C/E | 287-1025 | PDB |
| AF-Q9BYX4-F1 | Predicted | AlphaFoldDB |
1012 variants for Q9BYX4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA349015104 rs1558879403 RCV000729683 RCV002535127 |
4 | G>E | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs375179358 RCV001208154 CA1934903 |
9 | E>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA349014908 RCV001728055 rs1355798943 RCV002543895 RCV001861026 |
11 | F>S | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs372313271 CA349014796 RCV001209484 |
16 | S>W | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1442046271 RCV001249703 RCV000518968 CA349014599 RCV001858039 |
26 | I>N | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001323156 rs1442046271 CA349014593 |
26 | I>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001751511 CA349014418 rs1235525082 RCV001249329 |
35 | L>Q | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs888356659 RCV001298513 CA349014383 RCV001334145 |
37 | F>L | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001051844 rs747135877 CA1934889 |
49 | T>A | Variant assessed as Somatic; 0.0 impact. Singleton-Merten syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA59694300 RCV001241589 rs774025268 |
72 | H>Q | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
rs1307616619 RCV001065518 CA349013834 |
73 | L>F | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1683544639 RCV001322631 |
74 | G>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000526902 CA59694254 rs367851471 |
77 | R>Q | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs147278787 RCV001548182 RCV000986846 CA1934875 RCV000873861 |
77 | R>W | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA59694222 rs947699715 RCV001218989 |
93 | R>C | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA349013693 rs748006043 RCV001055861 CA1934866 |
95 | M>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000791679 rs777534095 CA1934868 |
95 | M>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001262476 rs375449284 RCV001880042 CA1934862 COSM3379819 |
100 | T>A | pancreas Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001326075 CA1934861 rs757803902 |
100 | T>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA349013661 RCV000801892 rs1576243308 |
101 | D>H | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1934855 RCV000698987 rs764380346 |
106 | S>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1576243266 CA349013598 RCV000851394 |
110 | A>G | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350166 rs768520868 CA1934846 |
124 | T>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1934844 rs139219083 RCV001338307 |
125 | L>M | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766508793 CA1934832 RCV000539878 |
140 | E>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA349013308 rs1231638178 RCV000811886 |
143 | L>P | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000652113 rs146721166 RCV002531992 CA1934829 |
146 | I>V | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000997249 CA1934826 RCV000652098 rs74162074 |
149 | R>G | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1683376227 RCV001325147 |
152 | I>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003224410 CA1934799 RCV000767992 rs781431529 |
153 | A>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs144853750 RCV001317388 CA1934796 |
156 | E>A | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001796206 rs74162075 CA1934794 RCV000767991 RCV003224409 |
160 | N>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA59688661 RCV001345992 rs1018886793 |
161 | E>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA59688656 rs1007619458 RCV001206226 |
163 | G>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001196856 RCV002287480 CA1934787 rs374205118 RCV001228695 |
176 | N>S | Stroke Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002497390 rs180843163 RCV001048736 CA1934781 |
186 | R>C | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1934779 RCV001234603 rs189443152 |
186 | R>P | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1553461143 RCV000652094 CA349010855 |
194 | V>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558876231 RCV000694979 CA349010817 |
195 | Q>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs930052265 RCV001070431 CA59685993 |
215 | V>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000900950 rs539777490 CA1934747 |
218 | P>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA349008631 rs1396124415 RCV001208471 |
220 | V>A | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1934741 RCV000817142 rs771251917 |
230 | Q>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1346345254 RCV001963348 |
238 | W>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000714824 RCV000714825 rs1558875029 |
240 | M>missing | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1934733 RCV002548338 RCV000969580 rs778501846 |
243 | N>K | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002493562 rs753380568 RCV001297109 CA1934732 |
244 | S>P | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774782975 CA1934725 RCV001340104 RCV003132430 |
253 | S>F | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000652100 RCV003133465 CA349008135 rs1256109895 |
254 | V>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA174730 RCV000149294 rs193920867 |
272 | E>D | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308995 rs1683037048 |
273 | S>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322659 rs1682932788 |
304 | P>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762821474 RCV001245850 CA1934660 RCV002069312 |
307 | Q>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000437488 RCV001228685 rs1057520076 CA16603194 |
311 | Y>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000798473 CA1934657 rs74162079 |
317 | Q>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343418 rs1682931873 |
319 | A>G | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297332 rs1682931491 |
326 | I>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA349004756 rs923064561 RCV000700416 |
329 | L>P | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1934652 rs141848057 RCV000963568 |
330 | P>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003351 rs1576229572 CA349004746 |
331 | T>I | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001003350 rs1576229572 CA349004747 |
331 | T>R | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777447 VAR_071375 RCV000125472 CA163191 |
337 | R>G | Aicardi-Goutieres syndrome 7 AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1314541924 RCV001332458 |
339 | A>T | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318841 rs1682930814 |
344 | K>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs183412282 RCV002570618 CA1934648 CA1934647 RCV001475480 |
347 | L>F | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001726294 CA1934645 RCV002499123 RCV000652112 RCV001703226 rs72650664 |
349 | K>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934643 RCV001226508 rs35207787 |
351 | K>E | Variant assessed as Somatic; 0.0 impact. Singleton-Merten syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs887114201 RCV001070796 |
355 | E>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA59670667 rs887114201 RCV000699593 |
355 | E>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001027786 CA1934639 RCV001255984 RCV001706698 RCV003224371 rs150317197 |
356 | P>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001248031 CA1934637 rs768448518 |
357 | G>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs117608083 VAR_087007 CA1934634 |
365 | K>E | IMD95; does not bind the double-stranded RNA analog poly(I:C); loss of IFNB1 and NFKB promoter activation after stimulation with poly(I:C), when tested in a luciferase reporter assay [UniProt] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt |
|
RCV000652104 CA1934610 rs140977021 |
366 | V>E | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA163489 VAR_071376 RCV000128859 rs587777576 |
372 | L>F | Aicardi-Goutieres syndrome 7 AGS7; enhances IFNB1 promoter activation; loss of ligand-induced responsiveness [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA1934607 rs113854430 RCV001070569 |
374 | R>C | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001085647 CA1934606 RCV000487851 rs145520044 |
374 | R>H | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002538485 RCV001297228 CA1934604 rs750443621 |
378 | Q>H | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001315524 rs1682830281 |
378 | Q>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800371 rs764148204 CA1934603 |
381 | L>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1934600 rs199917968 RCV001306844 |
384 | W>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001067140 rs1682829536 |
385 | Y>H | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138611889 RCV001253718 RCV001344499 RCV002570537 CA1934598 |
386 | R>H | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs765985079 RCV000298018 CA1934597 RCV000764272 |
389 | G>E | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001003352 rs1576227162 CA349002944 RCV003222190 |
389 | G>R | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1304955037 CA349002919 RCV001326830 |
392 | G>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587777449 CA349002915 RCV001003353 |
393 | D>A | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587777449 VAR_071377 CA163194 RCV000125475 |
393 | D>V | Aicardi-Goutieres syndrome 7 AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs148540097 RCV002275188 RCV001046941 CA1934589 |
408 | D>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000428343 RCV002298591 rs746025085 CA16603898 |
410 | I>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1682827216 RCV001206959 |
411 | I>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs575678322 CA1934583 RCV003159148 RCV003224370 RCV000652097 |
415 | Q>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs754807936 RCV001224130 CA1934581 |
420 | S>F | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1682826089 RCV001037651 |
435 | S>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139714761 RCV001086220 CA1934552 RCV000514732 |
438 | S>P | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA349002573 rs1576226728 RCV001003354 |
444 | E>G | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001003355 CA1934547 CA349002532 rs753383954 |
449 | N>K | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs764763183 CA1934546 RCV001341487 |
451 | E>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001341541 rs147642994 |
452 | A>E | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA163488 RCV000128858 VAR_071378 rs587777575 |
452 | A>T | Aicardi-Goutieres syndrome 7 AGS7; enhances IFNB1 promoter activation; loss of ligand-induced responsiveness [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs367921237 RCV001197910 |
453 | V>M | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA59664847 RCV001352182 rs1018712289 |
478 | V>M | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1934523 RCV001306132 rs141748480 |
486 | G>A | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003356 CA349002134 rs1576226604 |
489 | A>T | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1474848285 RCV002290468 CA349002114 RCV000821310 |
492 | G>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002495302 RCV000873034 rs147000317 CA1934521 |
494 | G>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs672601336 RCV000125474 VAR_071379 CA163193 |
495 | G>R | Aicardi-Goutieres syndrome 7 AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA1934520 rs763096939 RCV001035286 |
496 | A>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772032662 RCV001321838 |
504 | E>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002533945 rs1320095792 CA349001989 RCV000768437 |
506 | I>N | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1934488 rs370753836 RCV001063071 |
512 | N>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs145641024 RCV001042225 RCV000513621 CA1934486 |
520 | T>A | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934480 RCV001726293 rs142348767 RCV000652103 |
528 | L>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481871 rs779192156 RCV001039384 |
530 | N>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1934478 RCV001341734 rs369245661 |
530 | N>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV001300936 CA1934474 rs764183171 |
535 | P>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1934473 RCV002538464 RCV001296104 rs374396452 |
537 | K>E | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs111732322 RCV001221623 CA59661933 |
556 | E>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752832328 RCV001322441 |
559 | T>P | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003224443 RCV002533938 RCV000768235 CA1934432 rs765060493 |
567 | M>I | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000689077 rs1558866398 |
569 | P>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776280813 RCV001048366 CA1934430 |
570 | M>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138057665 RCV000871358 CA1934426 |
575 | T>A | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003133575 rs774888783 RCV000714708 CA349000100 |
580 | Q>* | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056935 CA59661838 rs889262310 |
582 | A>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA59661826 RCV001003357 rs753599401 |
583 | I>V | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001269324 RCV001766414 rs553669430 RCV002508798 RCV000652114 |
589 | A>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145792185 RCV000945675 CA1934396 |
589 | A>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298097 CA1934419 rs150760072 |
589 | A>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
RCV000768232 rs766039450 RCV002223928 |
596 | K>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA59661287 rs963903258 RCV001229641 |
597 | E>K | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000662136 rs200945986 RCV000662135 RCV000688834 CA1934387 |
598 | R>H | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1934381 rs763549486 RCV000823357 RCV001196339 |
602 | E>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001091999 rs200017837 RCV001052922 CA1934371 |
618 | R>Q | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934370 rs375482697 RCV001208107 |
619 | M>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934369 rs752494417 RCV000803807 |
620 | I>M | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs186942719 RCV001811495 CA1934367 RCV000807287 |
622 | A>V | Variant assessed as Somatic; 0.0 impact. Singleton-Merten syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1682720062 RCV001061083 |
625 | H>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002554842 RCV001091998 rs749942019 RCV002287469 CA1934363 |
625 | H>N | Stroke Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003224272 RCV001080055 RCV000430296 RCV002521512 CA1934360 RCV001262477 rs35744605 RCV001255983 RCV000986845 |
627 | E>* | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934358 RCV000652092 rs200980825 |
629 | F>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs145818112 RCV001201757 CA1934359 |
629 | F>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775623826 CA1934357 RCV001209056 |
630 | Y>C | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000954703 rs550930413 CA1934356 |
633 | E>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001352383 rs1682719356 |
638 | F>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553901 CA1934351 rs376940981 RCV001061099 |
643 | D>Y | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000585413 RCV002061965 rs1553459020 CA348998982 |
644 | D>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1934344 rs567418553 RCV000822003 |
650 | D>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1682717892 RCV001069923 |
654 | C>W | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1934340 rs144274375 RCV000652105 |
655 | D>E | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934337 RCV000691811 rs376074455 |
666 | P>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934335 RCV001307474 rs376074455 |
666 | P>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000704039 RCV001091997 RCV001844227 RCV001779064 rs773033563 RCV001731900 RCV000986844 |
673 | D>missing | Multisystem inflammatory syndrome in children Aicardi-Goutieres syndrome 7 Immunodeficiency 95 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746781048 RCV001316085 CA1934331 |
673 | D>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs569337014 RCV000419118 RCV001088661 RCV002502462 |
674 | R>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758006242 RCV001323229 CA348998366 |
674 | R>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1682712829 RCV001334147 |
676 | L>V | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA348998302 RCV001337784 rs1268091953 |
677 | M>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000790933 RCV001063415 RCV000790934 rs774076578 |
679 | L>missing | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001403271 CA249244 RCV001786340 RCV001455048 rs376420466 RCV000203039 CA1934297 RCV002549571 |
689 | R>S | Inborn genetic diseases Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1682679223 RCV001071964 |
700 | K>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1934291 RCV001729676 RCV000652110 RCV002272314 rs72650663 |
702 | T>I | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs185928139 CA1934288 RCV000878400 |
705 | R>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1934287 RCV000652099 rs370796923 |
708 | I>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934284 RCV002539996 RCV000875879 rs201841403 |
713 | T>S | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003358 rs1576224269 CA348997204 |
719 | A>V | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761864966 RCV001323647 |
720 | R>G | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000125470 rs587777445 VAR_071380 RCV001849907 CA163189 |
720 | R>Q | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002476554 RCV002287496 RCV001337151 CA1934275 rs201193151 |
728 | R>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774309855 RCV001053200 CA1934272 |
731 | A>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs200251981 RCV001327845 CA1934268 |
733 | A>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002481867 rs745948096 RCV001038982 |
739 | T>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201142986 CA1934261 RCV001413051 |
744 | F>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200389061 RCV000954805 CA1934260 |
747 | V>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1682675340 RCV001060983 |
753 | H>Q | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324224 rs1649189149 |
761 | S>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759430873 RCV001236460 RCV002252341 RCV002227512 |
767 | T>missing | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296222 CA1934224 rs761635157 |
772 | K>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA348996053 rs201472224 RCV001003359 |
773 | E>Q | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1246892209 RCV001291691 CA348996043 RCV002538399 |
774 | V>D | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_071381 RCV000255113 rs587777448 CA163192 RCV000125473 RCV001382400 |
779 | R>C | Variant assessed as Somatic; impact. Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000763454 RCV000125471 RCV000626957 VAR_071382 CA163190 RCV001770100 RCV000412770 rs587777446 |
779 | R>H | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; enhances IFNB1 promoter activation; no loss of ATP hydrolysis [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs587777446 RCV002551703 RCV001003360 CA348996009 |
779 | R>L | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1576222845 CA348995999 RCV001003361 |
781 | G>E | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001027787 RCV003224372 rs148369169 CA1934212 |
788 | A>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000874067 CA1934211 rs778200491 |
789 | T>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758387388 CA1934207 RCV001067460 |
798 | I>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA348995872 RCV001222113 RCV000986843 rs1576222807 |
801 | C>Y | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA348995867 RCV001003362 rs1576222803 |
802 | N>D | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001003363 CA348995850 rs774958328 |
803 | I>F | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001322367 CA1934205 rs778884536 |
803 | I>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001229594 rs1691095136 |
805 | I>F | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001248653 rs753623939 CA1934203 |
805 | I>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213296 rs144341455 CA1934202 |
806 | R>C | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs752226580 RCV001301235 CA1934200 |
807 | Y>C | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763479773 RCV001063411 CA1934195 |
810 | V>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199638804 RCV000876852 RCV002540013 CA1934192 |
812 | N>S | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1559810905 RCV000761569 CA348995732 |
813 | E>D | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200810568 RCV000689004 CA1934166 |
819 | A>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002222185 RCV000549571 rs74162087 RCV000489685 CA1934165 |
820 | R>H | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA59655746 RCV000714853 RCV002532981 RCV000714854 rs74162087 |
820 | R>P | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001215675 CA1934164 rs747926684 |
822 | R>* | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000436896 RCV000822311 RCV000169754 RCV000789041 CA199234 VAR_073666 rs376048533 |
822 | R>Q | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 SGMRT1; gain-of-function mutation resulting in enhanced INFB1 induction [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1238832404 RCV001003364 CA348994549 |
824 | R>K | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs765887304 RCV001003365 CA348994489 |
829 | T>S | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001234552 CA1934156 rs777051409 |
836 | S>G | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1934154 RCV002525315 RCV003224335 rs79324540 RCV000542562 |
842 | E>K | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000253451 RCV001521988 VAR_021594 RCV001636819 RCV000986842 CA1934151 RCV001701976 rs3747517 |
843 | H>R | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003366 rs1576222015 CA348994187 |
848 | D>E | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808992 CA59655641 rs750804689 |
850 | R>* | Variant assessed as Somatic; 0.0 impact. Singleton-Merten syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001003367 CA348994086 rs138373022 |
854 | M>K | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001064935 CA1934146 rs138373022 |
854 | M>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001312514 CA1934145 rs768238624 |
857 | A>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000652096 RCV003163000 RCV001200143 rs200833729 CA1934139 |
866 | P>L | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1559809132 RCV002546564 RCV001332460 |
879 | Q>* | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067279 rs745487097 CA1934106 |
881 | I>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001045483 rs1169761887 CA348992291 |
881 | I>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs748688202 RCV000805031 CA1934103 |
886 | M>T | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_087008 | 889 | K>del | IMD95; no protein detected by Western blot in homozygous patient cells [UniProt] | Yes | UniProt |
|
CA59652931 RCV001313560 rs948646167 |
895 | H>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1690962431 RCV001301662 |
906 | L>F | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1690962335 RCV001219091 |
908 | K>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA348990791 rs748895438 RCV001249830 RCV001879765 |
920 | I>T | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1291159972 RCV001070689 CA348990774 |
921 | H>Y | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1934084 RCV001731776 RCV000526497 rs35667974 RCV000594238 |
923 | I>V | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343327 rs1690960964 |
924 | E>G | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747311719 CA1934081 RCV000802320 |
927 | H>R | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs140562355 RCV000555941 CA1934078 |
929 | V>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA59652865 RCV001045701 rs374202040 |
930 | N>D | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706349 rs374202040 RCV002534464 RCV002493247 CA1934077 RCV001759420 |
930 | N>H | Singleton-Merten syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA348990506 RCV000823408 rs1576220013 |
931 | M>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823633 rs1322389017 CA348989942 |
944 | N>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001521987 rs1990760 RCV001701912 RCV001618467 RCV000245445 VAR_021595 RCV001701913 CA1934058 |
946 | A>T | Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1 associated with susceptibility to T1D19 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308706 CA1934053 rs148623633 RCV001751591 |
953 | D>G | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934054 RCV002478920 rs751417093 RCV000820941 RCV001091996 |
953 | D>N | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1934050 RCV003224484 rs144455277 RCV001573673 RCV000875928 |
955 | Q>E | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001003368 rs1576219706 CA348989703 |
956 | I>V | Aicardi-Goutieres syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809018 rs1466752669 CA348989672 |
958 | G>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1934045 RCV000703155 RCV000997248 rs202009944 |
965 | G>S | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934020 RCV001233409 rs773526836 |
973 | V>M | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000768233 RCV003224441 rs748198655 CA1934018 |
974 | H>Y | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA348989246 RCV000652093 rs1553696482 |
979 | L>W | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs74162090 RCV000695938 CA348989041 |
988 | V>I | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1934006 RCV001772162 rs74162090 RCV000875467 |
988 | V>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001348639 rs763358277 |
991 | F>L | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1163178795 CA348988903 RCV000798063 |
1000 | Y>H | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1392296770 RCV001038091 |
1019 | C>missing | Singleton-Merten syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778858888 CA59694503 |
3 | N>K | No |
ClinGen ExAC |
|
|
rs1485039163 CA349015082 |
5 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 5 | Y>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349015052 rs1576243763 |
6 | S>Y | No |
ClinGen Ensembl |
|
|
CA349014888 rs1227597886 |
12 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1227597886 CA349014875 |
12 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755798314 CA1934901 |
13 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763796280 CA1934902 |
13 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA1934900 rs752235975 |
14 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998442186 CA59694456 |
15 | I>V | No |
ClinGen gnomAD |
|
|
rs372313271 CA59694449 |
16 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 19 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349014716 rs1160285695 |
20 | A>T | No |
ClinGen gnomAD |
|
|
rs1423655284 CA349014681 |
21 | R>G | No |
ClinGen gnomAD |
|
|
rs370024615 CA59694431 |
21 | R>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1934899 rs553228814 CA349014672 |
21 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759079085 CA1934898 |
24 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1934896 rs767051250 |
25 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1934897 rs751082774 |
25 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs763364107 CA1934895 |
26 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1261297304 CA349014573 |
27 | Q>P | No |
ClinGen gnomAD |
|
|
rs1576243639 CA349014513 |
30 | P>L | No |
ClinGen Ensembl |
|
|
CA349014525 rs1319745419 |
30 | P>T | No |
ClinGen gnomAD |
|
|
rs376719866 CA1934894 |
33 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349014399 rs1275686294 |
36 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA349014377 rs1401381930 |
37 | F>C | No |
ClinGen gnomAD |
|
|
CA59694390 rs888356659 |
37 | F>V | No |
ClinGen gnomAD |
|
|
RCV000997250 rs919140409 CA59694379 |
38 | L>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 38 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1934892 rs762115082 |
41 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1276069749 CA349014164 |
46 | I>T | No |
ClinGen TOPMed |
|
|
CA59694361 rs1048089815 |
49 | T>I | No |
ClinGen Ensembl |
|
|
rs747135877 CA349014130 |
49 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349014115 rs1231134534 |
50 | V>G | No |
ClinGen TOPMed |
|
|
CA59694351 rs201710556 |
51 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201710556 CA349014113 |
51 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
TCGA novel rs770971752 CA349014055 |
55 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA349014046 rs1170733940 |
56 | M>K | No |
ClinGen TOPMed |
|
|
rs777639035 CA1934885 |
60 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1352165978 CA349013948 |
64 | S>I | No |
ClinGen TOPMed |
|
|
rs752429833 CA349013944 |
64 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781033192 CA1934882 |
65 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1403164634 CA349013885 |
69 | G>A | No |
ClinGen gnomAD |
|
|
rs1403164634 CA349013883 |
69 | G>E | No |
ClinGen gnomAD |
|
|
CA349013821 rs765738865 |
74 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1934879 rs765738865 |
74 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1934877 rs750844573 CA349013818 |
75 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA59694260 rs957068367 |
76 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349013804 rs367851471 |
77 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1270782256 CA349013798 |
78 | E>G | No |
ClinGen TOPMed |
|
|
CA349013784 rs1399804304 |
80 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1399804304 CA349013786 |
80 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA349013777 rs1168844368 |
81 | E>A | No |
ClinGen gnomAD |
|
|
CA1934874 rs776955408 |
82 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1934873 rs554794399 |
85 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1934870 rs771991223 |
88 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771991223 CA349013735 |
88 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057524257 RCV000439163 CA16603903 |
92 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA349013708 rs947699715 |
93 | R>G | No |
ClinGen gnomAD |
|
|
CA1934869 rs368825966 |
93 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349013706 rs368825966 |
93 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349013701 rs1325840950 |
94 | Y>C | No |
ClinGen TOPMed |
|
|
rs769741397 CA1934867 |
95 | M>R | No |
ClinGen ExAC |
|
|
rs1230448127 CA349013691 |
96 | N>H | No |
ClinGen gnomAD |
|
|
rs1235437805 CA349013678 |
97 | P>L | No |
ClinGen gnomAD |
|
|
rs1235437805 CA349013679 |
97 | P>R | No |
ClinGen gnomAD |
|
|
rs1306329943 CA349013683 |
97 | P>T | No |
ClinGen gnomAD |
|
|
rs150881745 CA59694212 |
98 | E>Q | No |
ClinGen ESP TOPMed |
|
|
CA1934864 rs751197215 |
99 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934863 rs751197215 |
99 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226055455 CA349013669 |
99 | L>V | No |
ClinGen TOPMed |
|
|
CA1934859 rs370937621 |
105 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1934858 rs375750292 |
105 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764380346 CA349013627 |
106 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349013624 rs1439047627 |
107 | F>S | No |
ClinGen gnomAD |
|
|
rs1047156211 CA59694151 |
107 | F>V | No |
ClinGen TOPMed |
|
|
CA349013605 rs1239223030 |
109 | N>K | No |
ClinGen TOPMed |
|
|
rs1475589306 CA349013602 |
110 | A>P | No |
ClinGen TOPMed |
|
|
CA1934854 rs760903088 |
111 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349013596 rs760903088 |
111 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923369950 CA59694150 |
112 | D>G | No |
ClinGen Ensembl |
|
|
rs1255112899 CA349013580 |
113 | E>G | No |
ClinGen gnomAD |
|
|
CA349013583 rs1419235573 |
113 | E>K | No |
ClinGen gnomAD |
|
|
rs767668988 CA1934852 |
114 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA349013575 rs375948298 |
114 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375948298 CA1934853 |
114 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1934850 rs774468416 |
116 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934849 rs769678153 |
119 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1934848 rs748030573 |
120 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1934847 rs776580560 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA349013516 rs1394334517 |
123 | P>L | No |
ClinGen gnomAD |
|
|
CA1934845 rs139219083 |
125 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143910264 CA1934843 |
126 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745423005 CA1934842 |
127 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1934840 rs138344310 |
128 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1934839 rs754290049 |
132 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs547819869 CA1934838 |
133 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1934837 rs756433741 |
134 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA349013439 rs1558878976 |
134 | V>I | No |
ClinGen Ensembl |
|
|
rs767683878 CA1934836 |
136 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934835 rs767683878 |
136 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349013385 rs1257535402 |
137 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA349013391 rs1207944571 |
137 | K>T | No |
ClinGen Ensembl |
|
|
rs774361518 CA349013378 |
138 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934834 rs759791512 |
138 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA349013381 rs759791512 |
138 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs774361518 CA1934833 |
138 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349013345 rs1351900008 |
141 | E>K | No |
ClinGen gnomAD |
|
|
CA349013294 rs1357623303 |
144 | L>F | No |
ClinGen gnomAD |
|
|
rs957037557 CA59693948 |
145 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1934828 rs746847064 |
146 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1934823 rs756709941 |
151 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA59693887 rs749829594 |
151 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1934822 rs749829594 |
151 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1934824 rs756709941 |
151 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs372069902 CA349011890 |
154 | A>D | No |
ClinGen ESP gnomAD |
|
|
rs376114651 CA1934798 |
154 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59688692 rs372069902 |
154 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA59688685 rs999278334 |
155 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758677741 CA1934795 |
158 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1018886793 CA349011751 |
161 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA349011734 rs1455983191 |
162 | S>* | No |
ClinGen gnomAD |
|
|
rs1178412309 CA349011717 |
163 | G>A | No |
ClinGen gnomAD |
|
|
CA349011720 rs1178412309 |
163 | G>D | No |
ClinGen gnomAD |
|
|
rs1178412309 CA349011713 |
163 | G>V | No |
ClinGen gnomAD |
|
|
rs1234872809 CA349011641 |
166 | E>Q | No |
ClinGen gnomAD |
|
|
rs752635207 CA1934791 |
168 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs201495678 CA16621758 RCV000488289 |
169 | K>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1212874609 CA349011524 |
171 | I>L | No |
ClinGen gnomAD |
|
|
CA1934788 rs774112201 |
175 | E>D | No |
ClinGen ExAC |
|
|
CA1934789 rs759418219 |
175 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298464553 CA349011374 |
175 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs759418219 CA349011350 |
175 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991641856 CA59688574 |
177 | W>C | No |
ClinGen TOPMed |
|
|
rs762589074 CA1934786 |
177 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1300859161 CA349011308 |
177 | W>S | No |
ClinGen Ensembl |
|
|
CA349011294 rs1446872167 |
178 | F>L | No |
ClinGen gnomAD |
|
|
CA59688573 rs760773075 |
182 | L>P | No |
ClinGen Ensembl |
|
|
rs772713550 CA1934785 |
183 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs769298583 CA1934784 |
184 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1934782 rs781741913 |
185 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189443152 CA1934780 |
186 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001311928 rs189443152 |
186 | R>L | No |
ClinVar dbSNP |
|
|
rs898426581 CA349010975 |
189 | G>A | No |
ClinGen gnomAD |
|
|
rs898426581 CA59688527 |
189 | G>V | No |
ClinGen gnomAD |
|
|
CA1934777 rs746026239 |
190 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1036922334 CA59688518 |
191 | N>D | No |
ClinGen Ensembl |
|
|
rs1255420302 CA349010927 |
191 | N>S | No |
ClinGen gnomAD |
|
|
rs557215155 CA1934776 |
192 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA59688516 rs926076285 |
192 | E>K | No |
ClinGen TOPMed |
|
|
CA349010868 rs1405437835 |
193 | L>H | No |
ClinGen gnomAD |
|
|
CA59688502 rs541721599 |
193 | L>I | No |
ClinGen 1000Genomes |
|
|
rs1485957987 CA349010837 |
195 | Q>E | No |
ClinGen gnomAD |
|
|
CA349010795 rs1285298087 |
196 | E>G | No |
ClinGen gnomAD |
|
|
CA349010725 rs1318547858 |
198 | T>I | No |
ClinGen gnomAD |
|
|
rs753834225 CA1934774 |
199 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA349010628 rs1395607729 |
201 | D>A | No |
ClinGen TOPMed |
|
|
rs767542632 CA349010630 |
201 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767542632 CA1934773 |
201 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332221584 CA349010597 |
202 | C>Y | No |
ClinGen gnomAD |
|
|
rs1029888708 CA59688455 |
205 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA349010512 rs1356633302 |
205 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 207 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59686003 rs564673117 |
209 | I>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA1934750 rs764997624 |
209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA349008832 rs1309769796 |
210 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1934749 rs546097679 |
215 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1934748 rs776205805 |
217 | G>C | No |
ClinGen ExAC |
|
|
rs1463635016 CA349008586 |
223 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1934744 rs772677737 |
227 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA349008522 rs1349325162 |
228 | T>A | No |
ClinGen TOPMed |
|
|
rs746288754 CA1934743 |
228 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA349008520 rs1349325162 |
228 | T>S | No |
ClinGen TOPMed |
|
|
rs1396600345 CA349008511 |
229 | V>I | No |
ClinGen gnomAD |
|
|
rs749404410 CA1934740 |
231 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349008480 rs1178413834 |
232 | N>D | No |
ClinGen gnomAD |
|
|
CA1934739 rs138188229 |
233 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59685932 rs960791103 |
234 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA349008440 rs1216676670 |
235 | K>E | No |
ClinGen gnomAD |
|
|
rs1346345254 CA349008382 |
238 | W>L | No |
ClinGen gnomAD |
|
|
rs1241546628 CA349008364 |
239 | G>D | No |
ClinGen TOPMed |
|
|
CA1934735 rs758318002 |
240 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934736 rs780014267 |
240 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1421036277 CA349008359 |
240 | M>V | No |
ClinGen TOPMed |
|
|
CA1934734 rs750282329 |
242 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750282329 CA349008327 |
242 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349008321 rs1305180688 |
242 | N>T | No |
ClinGen gnomAD |
|
|
CA349008306 rs1179255414 |
243 | N>D | No |
ClinGen TOPMed |
|
|
CA349008297 rs1179255414 |
243 | N>Y | No |
ClinGen TOPMed |
|
|
rs753380568 CA1934731 |
244 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA759868412 rs1399614346 |
246 | E>* | No |
ClinGen TOPMed |
|
|
CA1934730 rs373854773 |
246 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349008243 rs1174016564 |
247 | S>P | No |
ClinGen gnomAD |
|
|
rs556015191 CA1934728 |
248 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349008225 rs1392840230 |
248 | S>P | No |
ClinGen TOPMed |
|
|
rs370138586 CA1934726 |
252 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349008133 rs1256109895 |
254 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1934724 rs771145026 |
255 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA59685822 rs376586780 |
256 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA349008107 rs1351063208 |
257 | E>Q | No |
ClinGen gnomAD |
|
|
rs1284880919 CA349006204 |
260 | T>R | No |
ClinGen gnomAD |
|
|
rs12474918 CA59677062 |
260 | T>S | No |
ClinGen Ensembl |
|
|
rs1212380600 CA349006194 |
261 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349006169 rs1226536547 |
263 | A>V | No |
ClinGen gnomAD |
|
|
rs768670882 CA1934700 |
266 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1382617566 CA349006126 |
267 | V>I | No |
ClinGen gnomAD |
|
|
CA349006114 rs1266267435 |
268 | S>G | No |
ClinGen TOPMed |
|
|
CA349006077 rs1393234427 |
270 | L>F | No |
ClinGen gnomAD |
|
|
rs1323427075 CA349006067 |
271 | D>V | No |
ClinGen gnomAD |
|
|
rs544744271 CA59677047 |
271 | D>Y | No |
ClinGen Ensembl |
|
|
rs12470774 CA59677030 |
274 | L>I | No |
ClinGen Ensembl |
|
|
rs745845956 CA1934699 |
275 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774197929 CA1934698 |
276 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA349005994 rs1189567016 |
277 | N>D | No |
ClinGen TOPMed |
|
|
CA349005912 rs1475372162 |
283 | D>G | No |
ClinGen gnomAD |
|
|
rs1263997174 CA349005889 |
285 | G>A | No |
ClinGen TOPMed |
|
|
CA1934697 rs770881875 |
286 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA349005862 rs1252800383 |
287 | M>I | No |
ClinGen gnomAD |
|
|
rs1212007978 CA349005857 |
288 | G>R | No |
ClinGen gnomAD |
|
|
rs1470007255 CA349005852 |
288 | G>V | No |
ClinGen gnomAD |
|
|
CA59677015 rs777809728 |
290 | D>N | No |
ClinGen Ensembl |
|
|
rs777709086 CA1934695 |
291 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1208849647 CA349004993 |
293 | E>G | No |
ClinGen TOPMed |
|
|
CA1934670 rs779549145 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1558869739 CA349004971 |
296 | V>A | No |
ClinGen Ensembl |
|
|
CA1934669 rs758842138 |
296 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1484884865 CA349004966 |
297 | A>G | No |
ClinGen TOPMed |
|
|
CA1934668 rs750878079 |
297 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1934666 rs757655862 |
298 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA349004961 rs757655862 |
298 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA349004962 rs1382797011 |
298 | A>T | No |
ClinGen Ensembl |
|
|
CA1934665 rs754182031 |
300 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs764283944 CA1934664 |
301 | S>C | No |
ClinGen ExAC |
|
|
CA349004947 rs988912608 |
301 | S>P | No |
ClinGen TOPMed |
|
|
CA59670837 rs988912608 |
301 | S>T | No |
ClinGen TOPMed |
|
|
CA59670835 rs779515192 |
302 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760951493 CA1934663 |
302 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1934661 rs767577052 |
306 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288428862 CA349004865 |
313 | M>I | No |
ClinGen gnomAD |
|
|
CA349004870 rs1221661692 |
313 | M>V | No |
ClinGen gnomAD |
|
|
CA349004847 rs1355343871 |
316 | A>P | No |
ClinGen gnomAD |
|
|
CA349004846 rs1355343871 |
316 | A>S | No |
ClinGen gnomAD |
|
|
CA59670802 rs74162079 |
317 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349004840 rs1290559522 |
317 | Q>P | No |
ClinGen TOPMed |
|
|
CA349004817 rs1360050657 |
321 | E>K | No |
ClinGen gnomAD |
|
|
CA1934655 rs776562127 |
322 | G>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001092000 rs1682931607 |
323 | K>N | No |
ClinVar dbSNP |
|
|
CA349004794 rs1159972993 |
324 | N>D | No |
ClinGen gnomAD |
|
|
rs1474944804 CA349004786 |
325 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1474944804 CA349004787 |
325 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1415811518 CA349004770 |
327 | I>T | No |
ClinGen gnomAD |
|
|
CA1934654 rs768197611 |
329 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs923064561 CA59670786 |
329 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 332 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213469969 CA349004729 |
334 | G>R | No |
ClinGen gnomAD |
|
|
CA349004694 rs1314541924 |
339 | A>S | No |
ClinGen TOPMed |
|
|
CA1934651 rs76332728 |
340 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1934650 rs745348550 |
341 | Y>F | No |
ClinGen ExAC |
|
|
CA1934649 rs779443494 |
343 | A>S | No |
ClinGen ExAC |
|
|
rs1485292041 CA349004646 |
346 | H>R | No |
ClinGen TOPMed |
|
|
CA349004632 rs1331982994 |
348 | D>E | No |
ClinGen gnomAD |
|
|
rs1232328226 CA349004637 |
348 | D>N | No |
ClinGen gnomAD |
|
|
rs1017702014 CA59670740 |
348 | D>V | No |
ClinGen Ensembl |
|
|
CA1934646 rs72650664 |
349 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752915226 CA1934644 |
350 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752915226 CA349004620 |
350 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 353 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762847175 CA59670682 |
353 | A>T | No |
ClinGen Ensembl |
|
|
CA1934641 rs751669754 |
354 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1377594430 CA349004553 |
358 | K>R | No |
ClinGen TOPMed |
|
|
CA349004544 rs760272821 |
359 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934636 rs760272821 |
359 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934635 rs775244788 |
361 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371494409 CA349004501 |
362 | L>V | No |
ClinGen TOPMed |
|
|
rs1410059196 CA349004451 |
364 | N>S | No |
ClinGen TOPMed |
|
|
CA349003255 rs140977021 |
366 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349003249 rs898579910 |
367 | L>V | No |
ClinGen TOPMed |
|
|
CA349003198 rs1285685926 |
371 | Q>* | No |
ClinGen TOPMed |
|
|
rs145520044 CA349003149 |
374 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1934605 rs758587536 |
377 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752544919 CA349003002 |
384 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA349002994 rs199917968 |
384 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934601 rs752544919 |
384 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA1934602 rs756003596 |
384 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349002973 rs759212820 |
386 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759212820 CA1934599 |
386 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374766201 CA59665955 |
387 | V>I | No |
ClinGen gnomAD |
|
|
CA1934595 rs587777449 |
393 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1418555301 CA349002907 |
394 | T>I | No |
ClinGen TOPMed |
|
|
CA349002909 rs1418555301 |
394 | T>N | No |
ClinGen TOPMed |
|
|
CA349002905 rs1157659168 |
395 | Q>* | No |
ClinGen TOPMed |
|
|
CA1934594 rs772585139 |
399 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1408936117 CA349002877 |
399 | S>P | No |
ClinGen TOPMed |
|
|
CA1934593 rs770336267 |
403 | V>A | No |
ClinGen ExAC |
|
|
CA59665876 rs111797285 |
404 | V>A | No |
ClinGen Ensembl |
|
|
CA1934592 rs748544874 |
404 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1934590 rs769101700 |
407 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1373494663 CA349002826 |
407 | C>Y | No |
ClinGen TOPMed |
|
|
CA349002812 rs1160695662 |
409 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1160695662 CA349002810 |
409 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1934588 rs780469147 |
409 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA349002806 rs746025085 |
410 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746025085 CA1934586 |
410 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758677574 CA1934587 |
410 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1934585 rs778794264 |
413 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1934584 rs201917037 |
414 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs994007314 CA59665801 |
416 | I>V | No |
ClinGen Ensembl |
|
|
rs1266525372 CA349002764 |
417 | L>H | No |
ClinGen gnomAD |
|
|
rs767335217 CA1934582 |
417 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA349002738 rs1292753437 |
421 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59665743 rs1054159671 |
425 | E>* | No |
ClinGen TOPMed |
|
|
rs764602538 CA1934576 |
427 | G>V | No |
ClinGen ExAC |
|
|
rs74162081 CA59665715 |
428 | E>G | No |
ClinGen Ensembl |
|
|
rs762413474 CA1934575 |
431 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1353805115 CA349002664 |
432 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA349002661 rs1382291566 |
432 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 436 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349002620 rs1446621299 |
437 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 437 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201525208 CA59665041 |
438 | S>C | No |
ClinGen ExAC |
|
|
CA1934551 rs201525208 |
438 | S>F | No |
ClinGen ExAC |
|
|
rs764907514 CA349002593 |
441 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764907514 CA1934550 |
441 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252650971 CA349002586 |
442 | I>S | No |
ClinGen gnomAD |
|
|
rs35329951 CA59665016 |
442 | I>V | No |
ClinGen Ensembl |
|
|
CA10581356 RCV000224540 rs878853066 |
443 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs998913610 CA59665007 |
447 | H>D | No |
ClinGen TOPMed |
|
|
rs998913610 CA349002553 |
447 | H>N | No |
ClinGen TOPMed |
|
|
rs1268181613 CA349002545 |
448 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1576226711 CA349002539 |
448 | T>I | No |
ClinGen Ensembl |
|
|
CA1934545 rs147642994 |
452 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA59664947 rs558005930 |
453 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934543 rs558005930 |
453 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367921237 CA1934544 CA349002510 |
453 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318887474 CA349002507 |
454 | Y>H | No |
ClinGen TOPMed |
|
|
rs772981550 CA1934542 |
455 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349002498 rs1331112805 |
455 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 457 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774476465 CA1934541 |
458 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA59664928 rs1031540879 |
459 | R>K | No |
ClinGen Ensembl |
|
|
rs768587118 CA1934537 |
460 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_031226 rs10930046 CA1934538 |
460 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs190032248 CA1934539 |
460 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1934536 rs746897113 |
461 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779927507 CA1934535 |
462 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1247355630 CA349002444 |
463 | M>L | No |
ClinGen gnomAD |
|
|
rs1181270642 CA349002441 |
463 | M>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 466 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758163701 CA1934534 |
467 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329711629 CA349002389 |
468 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 468 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349002377 rs1253953605 |
469 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778487639 CA1934532 |
476 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416059394 CA349002253 |
477 | P>S | No |
ClinGen gnomAD |
|
|
rs753401995 CA1934530 |
480 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899590381 CA59664839 |
480 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA59664802 rs1007701005 |
482 | P>L | No |
ClinGen TOPMed |
|
|
CA349002188 rs763638412 |
483 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934528 rs763638412 |
483 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753216541 CA1934526 CA349002175 |
483 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756712486 CA1934527 |
483 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1157544674 CA349002163 |
484 | I>T | No |
ClinGen TOPMed |
|
|
CA1934522 rs774768455 |
491 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773300726 CA1934519 |
496 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs773300726 CA349002091 |
496 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769822100 CA1934518 |
497 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349002086 rs1206459742 |
497 | T>M | No |
ClinGen gnomAD |
|
|
CA59664745 rs994997296 |
498 | K>M | No |
ClinGen Ensembl |
|
|
CA59664735 rs186791033 |
499 | Q>P | No |
ClinGen 1000Genomes |
|
|
rs775333857 CA1934514 |
500 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349002039 rs1379169801 |
501 | K>R | No |
ClinGen gnomAD |
|
|
CA1934512 rs772032662 |
504 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs147738489 CA349001996 |
505 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA349002003 rs1310608345 |
505 | H>R | No |
ClinGen TOPMed |
|
|
CA349002006 rs1278197489 |
505 | H>Y | No |
ClinGen TOPMed |
|
|
CA1934511 rs535192485 |
506 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778700835 CA1934510 |
508 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770811079 CA1934491 |
509 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1576226013 CA349001197 |
510 | C>R | No |
ClinGen Ensembl |
|
|
rs370753836 CA1934489 |
512 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1450912776 CA349001176 |
513 | L>F | No |
ClinGen gnomAD |
|
|
rs747683934 CA1934487 |
518 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1190299758 CA349001136 |
519 | K>* | No |
ClinGen gnomAD |
|
|
rs145641024 CA349001130 |
520 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1934485 rs755455478 RCV000788368 |
522 | K>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA1934484 rs752062817 |
523 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1274362278 CA349001095 |
525 | L>F | No |
ClinGen gnomAD |
|
|
CA349001093 rs1390303966 |
525 | L>P | No |
ClinGen TOPMed |
|
|
CA1934482 rs758807886 |
526 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349001077 rs1298545869 |
527 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs142348767 CA1934481 |
528 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365491021 CA349001069 |
529 | K>R | No |
ClinGen gnomAD |
|
|
CA349001044 rs1295373331 |
532 | I>M | No |
ClinGen gnomAD |
|
|
CA1934476 rs753875353 |
534 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA349001025 rs1431355049 |
535 | P>L | No |
ClinGen gnomAD |
|
|
rs764183171 CA59663483 |
535 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1174837019 CA349001013 |
537 | K>R | No |
ClinGen gnomAD |
|
|
rs774388679 CA1934472 |
538 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA349000992 rs1426649336 |
540 | A>S | No |
ClinGen gnomAD |
|
|
CA349000977 rs1490646945 |
542 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA349000971 rs1357611546 |
543 | D>G | No |
ClinGen TOPMed |
|
|
CA349000967 rs1374484430 |
544 | A>T | No |
ClinGen gnomAD |
|
|
CA349000962 rs1314564521 |
544 | A>V | No |
ClinGen Ensembl |
|
|
rs762899578 CA1934470 |
545 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA349000310 rs1429657258 |
549 | P>L | No |
ClinGen TOPMed |
|
|
rs775265767 CA59661964 |
549 | P>T | No |
ClinGen Ensembl |
|
|
CA1934441 rs577764827 |
551 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1934440 rs577764827 |
551 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000514868 CA349000288 rs1160814545 |
552 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA349000295 rs1193030860 |
552 | E>K | No |
ClinGen TOPMed |
|
|
CA1934439 rs749596514 |
553 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187492247 CA349000278 |
554 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA349000275 rs1166717528 |
554 | L>R | No |
ClinGen TOPMed |
|
|
CA1934437 rs756286361 |
558 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs752832328 CA1934436 |
559 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1443193289 CA349000243 |
559 | T>I | No |
ClinGen gnomAD |
|
|
rs1558866429 CA349000240 |
560 | R>K | No |
ClinGen Ensembl |
|
|
rs1558866424 CA349000236 |
560 | R>S | No |
ClinGen Ensembl |
|
|
CA349000210 rs1576225227 |
564 | Y>C | No |
ClinGen Ensembl |
|
|
rs560193080 CA1934434 |
565 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264741450 CA349000180 |
568 | S>N | No |
ClinGen gnomAD |
|
|
rs1382722250 CA349000170 |
569 | P>L | No |
ClinGen TOPMed |
|
|
rs1338229910 CA349000166 |
570 | M>R | No |
ClinGen TOPMed |
|
|
CA1934431 rs761723156 |
570 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763803013 CA1934429 |
572 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs775003095 CA1934427 |
574 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA349000134 rs1334484311 |
575 | T>N | No |
ClinGen TOPMed |
|
|
CA1934424 rs774888783 |
580 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349000088 rs1370550497 |
581 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 581 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349000093 rs1456856189 |
581 | W>R | No |
ClinGen gnomAD |
|
|
rs369588089 CA1934423 |
582 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753599401 CA349000081 |
583 | I>L | No |
ClinGen TOPMed |
|
|
rs1190776499 CA349000064 |
584 | Q>L | No |
ClinGen gnomAD |
|
|
rs1447613967 CA349000055 |
585 | M>V | No |
ClinGen gnomAD |
|
|
CA1934421 rs777933362 |
586 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA349000039 rs1261640042 |
586 | E>Q | No |
ClinGen TOPMed |
|
|
rs150760072 CA1934420 |
589 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs145792185 CA348999908 |
589 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1934395 rs768993250 |
590 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59661315 rs1025854546 |
592 | E>* | No |
ClinGen gnomAD |
|
|
rs1025854546 CA348999878 |
592 | E>K | No |
ClinGen gnomAD |
|
|
rs191839015 CA1934392 |
595 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1934390 rs74162084 |
595 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1934391 rs74162084 |
595 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191839015 CA1934393 |
595 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1934389 rs755951360 |
596 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348999820 rs1303348838 |
597 | E>A | No |
ClinGen gnomAD |
|
|
rs963903258 CA348999823 |
597 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200741709 CA1934388 |
598 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759122723 CA1934386 |
599 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59661275 rs1055824554 |
599 | V>G | No |
ClinGen Ensembl |
|
|
rs759122723 CA59661286 |
599 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348999784 rs1259367903 |
601 | A>G | No |
ClinGen TOPMed |
|
|
CA1934382 rs765761238 |
601 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 603 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348999742 rs118172671 |
604 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773635540 CA1934380 |
604 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1934378 rs762331564 |
608 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1934377 rs777064938 |
608 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1934375 rs558387118 |
610 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1934374 rs780212949 |
612 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA348999622 rs1235926337 |
613 | I>L | No |
ClinGen TOPMed |
|
|
rs772083054 CA1934373 |
613 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348999621 rs1235926337 |
613 | I>V | No |
ClinGen TOPMed |
|
|
CA348999611 rs1189120628 |
614 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 615 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461536536 CA348999576 |
616 | T>I | No |
ClinGen gnomAD |
|
|
CA348999577 rs1461536536 |
616 | T>R | No |
ClinGen gnomAD |
|
|
CA1934372 rs745937740 |
618 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348999532 rs200017837 |
618 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770726979 CA1934368 |
621 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1934366 rs186942719 |
622 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348999438 rs1356023008 |
622 | A>T | No |
ClinGen gnomAD |
|
|
rs35744605 CA1934362 |
627 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1934361 rs35744605 |
627 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs545610093 CA59661174 |
628 | T>I | No |
ClinGen gnomAD |
|
|
CA348999310 rs1411337823 |
629 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145818112 CA59661169 |
629 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59661151 rs199818504 |
630 | Y>H | No |
ClinGen 1000Genomes |
|
|
CA348999205 rs1485862271 |
635 | D>G | No |
ClinGen gnomAD |
|
|
rs1247081906 CA348999212 |
635 | D>Y | No |
ClinGen gnomAD |
|
|
rs746002371 CA1934355 |
637 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774347658 CA1934354 |
639 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59661136 rs1052281131 |
640 | V>I | No |
ClinGen TOPMed |
|
|
rs1276194562 CA348999053 |
641 | I>T | No |
ClinGen TOPMed |
|
|
rs748031255 CA1934352 |
642 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 644 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59661111 rs963824035 |
645 | S>G | No |
ClinGen Ensembl |
|
|
rs779637110 CA1934348 |
645 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779637110 CA1934349 |
645 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556917411 CA348998924 |
646 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556917411 CA1934347 |
646 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1934346 rs749912569 |
647 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754434877 CA1934342 |
651 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 651 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348998784 rs1213233883 |
653 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA59661072 rs987124852 |
654 | C>G | No |
ClinGen TOPMed |
|
|
rs764675454 CA1934341 |
654 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs921683693 CA59661062 |
656 | G>S | No |
ClinGen TOPMed |
|
|
rs146300062 CA59661061 |
656 | G>V | No |
ClinGen ESP |
|
|
rs1429995049 CA348998754 |
657 | D>E | No |
ClinGen gnomAD |
|
|
rs1190170498 CA348998736 |
659 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA348998722 rs1488427717 |
660 | E>G | No |
ClinGen gnomAD |
|
|
rs1225412715 CA348998654 |
662 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 663 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348998603 rs1224393495 |
664 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs376074455 CA1934336 |
666 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203264957 CA348998491 |
667 | L>F | No |
ClinGen gnomAD |
|
|
rs1576224654 CA348998496 |
667 | L>S | No |
ClinGen Ensembl |
|
|
CA1934333 rs370203250 |
670 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA348998454 rs370203250 |
670 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs527242746 CA1934332 |
672 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758006242 CA1934328 |
674 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 675 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745474856 CA1934326 |
676 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1433134577 CA348998297 |
677 | M>I | No |
ClinGen TOPMed |
|
|
rs1463172008 CA348998284 |
678 | T>S | No |
ClinGen gnomAD |
|
|
rs1354803249 CA348998233 |
681 | F>L | No |
ClinGen gnomAD |
|
|
CA348998206 rs1558865869 |
682 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1934303 rs777280046 |
683 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs753209427 CA1934302 CA348998123 |
683 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384591767 CA348998105 |
686 | M>V | No |
ClinGen gnomAD |
|
|
CA1934299 rs755387327 |
689 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189782013 CA1934296 |
690 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1437812090 CA348997956 |
694 | P>Q | No |
ClinGen TOPMed |
|
|
CA59660576 rs1010346639 |
695 | E>V | No |
ClinGen Ensembl |
|
|
CA1934294 rs761764756 |
696 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA348997916 rs1364723609 |
696 | Y>C | No |
ClinGen gnomAD |
|
|
rs775545790 CA1934293 |
697 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348997905 rs1442987413 |
697 | E>K | No |
ClinGen gnomAD |
|
|
CA1934292 rs771889015 |
701 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348997534 rs1243558888 |
709 | M>R | No |
ClinGen gnomAD |
|
|
rs1227218763 CA348997422 |
712 | Y>C | No |
ClinGen gnomAD |
|
|
rs781753569 CA1934283 |
714 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs755475398 CA1934282 |
715 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA348997263 rs751929858 |
717 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1934281 rs751929858 |
717 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761864966 CA1934280 |
720 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348997169 rs1558865610 |
721 | G>E | No |
ClinGen Ensembl |
|
|
CA348997132 rs1195612197 |
723 | I>T | No |
ClinGen TOPMed |
|
|
CA1934277 rs765352979 |
727 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA348996986 rs1266522773 |
728 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348996942 rs1220200085 |
730 | S>G | No |
ClinGen gnomAD |
|
|
CA1934274 rs375745122 |
730 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375745122 CA1934273 |
730 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1934271 rs766238091 |
731 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs147175706 CA1934270 |
732 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 732 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200251981 CA348996877 |
733 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1934266 rs775940899 |
734 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348996843 rs1268036060 |
735 | S>A | No |
ClinGen TOPMed |
|
|
rs1357915407 CA348996826 |
736 | Q>* | No |
ClinGen TOPMed |
|
|
CA1934265 rs375941146 |
737 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348996760 rs1403656282 |
738 | I>T | No |
ClinGen gnomAD |
|
|
CA348996773 rs1283129508 |
738 | I>V | No |
ClinGen gnomAD |
|
|
rs780505325 CA1934263 |
739 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA59660326 rs373758432 |
741 | N>K | No |
ClinGen ESP |
|
|
rs1288480838 CA348996673 |
743 | K>R | No |
ClinGen TOPMed |
|
|
rs764553894 CA1934259 |
748 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA348996582 rs1197118470 |
750 | K>R | No |
ClinGen gnomAD |
|
|
CA348996563 rs1558865546 |
751 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 751 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1934257 rs753965202 |
753 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs753965202 CA1934258 |
753 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348996306 rs1181248623 |
755 | I>T | No |
ClinGen gnomAD |
|
|
rs1274626078 CA348996300 |
756 | G>R | No |
ClinGen gnomAD |
|
|
CA348996285 rs1196021161 |
757 | A>G | No |
ClinGen gnomAD |
|
|
rs1343602563 CA348996268 |
759 | H>Y | No |
ClinGen gnomAD |
|
|
CA348996238 rs1473188648 |
761 | S>G | No |
ClinGen TOPMed |
|
|
rs1162608340 CA348996212 |
762 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs960165167 CA59658573 |
763 | F>L | No |
ClinGen Ensembl |
|
|
CA1934254 rs376380607 |
765 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348996180 rs1474738840 |
765 | P>S | No |
ClinGen gnomAD |
|
|
CA1934252 rs751588218 |
766 | M>V | No |
ClinGen ExAC |
|
|
CA1934251 rs766399254 |
767 | T>A | No |
ClinGen ExAC |
|
|
rs1085307464 RCV000490073 CA348996139 |
768 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1934223 rs201472224 |
773 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348996042 rs1246892209 |
774 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763719865 CA1934221 |
774 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1934220 rs760242873 |
776 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA348996023 rs1286741340 |
777 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1934219 rs774912983 |
778 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313107807 CA348996005 |
780 | T>N | No |
ClinGen gnomAD |
|
|
rs772645488 CA1934218 |
783 | I>V | No |
ClinGen ExAC |
|
|
rs759911216 CA1934215 |
786 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934214 rs774809633 |
786 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774809633 CA348995966 |
786 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs770138422 CA1934210 |
790 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 794 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1934208 rs781366635 |
795 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1934209 rs141366758 |
795 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348995882 rs1444920926 |
800 | E>* | No |
ClinGen gnomAD |
|
|
rs774958328 CA348995853 |
803 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1934206 rs774958328 |
803 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1934201 rs562743627 |
806 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934198 rs184259770 |
807 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1360492309 CA348995769 |
808 | G>S | No |
ClinGen gnomAD |
|
|
CA59656694 rs769742165 |
811 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs773647447 CA1934194 |
812 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs199638804 CA1934193 |
812 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348995728 rs1158075572 |
814 | I>V | No |
ClinGen TOPMed |
|
|
CA1934191 rs745774513 |
815 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348995712 rs745774513 |
815 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569872801 CA1934190 |
816 | M>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs747095327 CA1934189 |
818 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1427762000 CA348994583 |
820 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA348994580 rs74162087 |
820 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434055094 CA348994576 |
821 | G>R | No |
ClinGen gnomAD |
|
|
CA348994574 rs1434055094 |
821 | G>S | No |
ClinGen gnomAD |
|
|
CA348994546 rs1238832404 |
824 | R>I | No |
ClinGen gnomAD |
|
|
CA1934162 rs372817657 |
828 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372817657 CA348994502 |
828 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1934161 rs765887304 |
829 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201027557 CA59655731 |
829 | T>P | No |
ClinGen Ensembl |
|
|
CA1934159 rs750993424 |
831 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934158 rs765784766 |
832 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268126052 CA348994436 |
833 | V>D | No |
ClinGen TOPMed |
|
|
CA348994427 rs1381697381 |
834 | A>P | No |
ClinGen TOPMed |
|
|
CA348994316 rs1407669353 |
841 | I>F | No |
ClinGen gnomAD |
|
|
CA1934155 rs764283606 |
841 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 841 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348994311 rs1339197664 |
841 | I>T | No |
ClinGen gnomAD |
|
|
rs775472922 CA348994293 |
842 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934153 rs775472922 |
842 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934152 rs772170648 |
843 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348994262 rs1559810351 |
844 | E>* | No |
ClinGen Ensembl |
|
|
CA348994251 rs1183255895 |
844 | E>D | No |
ClinGen gnomAD |
|
|
rs1459983853 CA348994244 |
845 | T>A | No |
ClinGen gnomAD |
|
|
CA59655651 rs983354402 |
845 | T>I | No |
ClinGen Ensembl |
|
|
rs370618144 CA1934148 |
850 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59655630 rs376785582 |
853 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA1934147 rs747958389 |
853 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs746638759 CA1934144 |
857 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1315217655 CA348994032 |
858 | I>L | No |
ClinGen gnomAD |
|
|
rs373490708 CA59655618 |
858 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs373382295 CA59655617 |
859 | H>D | No |
ClinGen ESP TOPMed |
|
|
CA1934142 rs779528906 |
859 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934141 rs757999599 |
864 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59655613 rs757999599 |
864 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456632741 CA348993890 |
866 | P>S | No |
ClinGen TOPMed |
|
|
rs764489663 CA1934136 CA1934137 |
867 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934138 rs143054245 |
867 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1163161732 CA348993884 |
867 | E>K | No |
ClinGen gnomAD |
|
|
CA348993857 rs760907862 |
868 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934134 rs752986445 |
869 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1934133 rs566965537 |
870 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1161849062 CA348993807 |
871 | H>R | No |
ClinGen gnomAD |
|
|
CA1934132 rs759615376 |
871 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348993796 rs774408685 |
872 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1934131 rs774408685 |
872 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760588876 CA1934109 |
874 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934108 rs775415743 |
878 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1559809132 CA348992340 |
879 | Q>E | No |
ClinGen Ensembl |
|
|
rs1391101090 CA348992315 |
880 | S>G | No |
ClinGen gnomAD |
|
|
rs771902342 CA1934107 |
880 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1934105 rs774108587 |
881 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1934104 rs770497457 |
882 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1481256564 CA348992244 |
883 | E>Q | No |
ClinGen gnomAD |
|
|
rs1252022173 CA348992057 |
889 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348992038 rs1576220148 |
889 | K>N | No |
ClinGen Ensembl |
|
|
rs1198672334 CA348992006 |
890 | R>I | No |
ClinGen gnomAD |
|
|
rs948646167 CA348991833 |
895 | H>R | No |
ClinGen TOPMed |
|
|
rs1222241840 CA348991842 |
895 | H>Y | No |
ClinGen gnomAD |
|
|
CA348991786 rs946205846 |
896 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348991805 rs1576220133 |
896 | Y>N | No |
ClinGen Ensembl |
|
|
CA59652923 rs778218112 |
896 | Y>S | No |
ClinGen TOPMed |
|
|
CA1934098 rs772381153 |
897 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348991711 rs1559809082 |
898 | N>H | No |
ClinGen Ensembl |
|
|
CA59652917 rs763492910 |
899 | N>K | No |
ClinGen TOPMed |
|
|
CA1934096 rs766458229 |
900 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 904 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59652900 rs976931648 |
905 | F>L | No |
ClinGen TOPMed |
|
|
rs371419955 CA1934095 |
905 | F>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs750467622 CA1934094 |
908 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764152691 CA1934093 |
909 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs775467204 CA1934091 |
910 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348991047 rs1425569655 |
911 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1365143938 CA348990988 |
912 | V>A | No |
ClinGen gnomAD |
|
|
rs763049591 CA59652892 |
912 | V>L | No |
ClinGen gnomAD |
|
|
CA348990929 rs759356432 |
914 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934089 rs759356432 |
914 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348990865 rs1219604492 |
916 | S>Y | No |
ClinGen TOPMed |
|
|
CA1934088 rs774160145 |
917 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1934086 rs748895438 |
920 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59652880 rs1054116389 |
922 | V>A | No |
ClinGen Ensembl |
|
|
rs748620268 CA1934083 |
923 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA348990724 rs1165752336 |
925 | K>E | No |
ClinGen TOPMed |
|
|
rs1349019812 CA348990715 |
925 | K>T | No |
ClinGen gnomAD |
|
|
rs781632751 CA1934082 |
926 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348990693 rs1368052936 |
926 | M>T | No |
ClinGen TOPMed |
|
|
rs747311719 CA1934080 |
927 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA348990616 rs145187664 |
928 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382107944 CA348990640 |
928 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs994673487 CA59652866 |
929 | V>A | No |
ClinGen TOPMed |
|
|
rs765203521 CA1934076 |
930 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348990164 rs1490297353 |
937 | E>G | No |
ClinGen gnomAD |
|
|
CA759845964 rs1289650525 |
939 | Y>* | No |
ClinGen TOPMed |
|
|
CA348990131 rs1224063623 |
939 | Y>D | No |
ClinGen gnomAD |
|
|
CA348990096 rs1244249692 |
940 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 942 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218023983 CA348989939 |
944 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 948 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59652452 rs77041372 |
949 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1934056 rs781344166 |
951 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1934051 rs750063177 |
954 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs116508532 CA1934052 |
954 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144455277 CA348989717 |
955 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1934049 rs761313801 |
956 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348989670 rs1335898755 |
958 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 959 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426360698 CA348989648 |
960 | I>V | No |
ClinGen gnomAD |
|
|
rs769204338 CA1934047 |
961 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1423577496 CA348989613 |
962 | C>* | No |
ClinGen gnomAD |
|
|
rs1559808756 CA348989623 |
962 | C>R | No |
ClinGen Ensembl |
|
|
CA348989600 rs1452219690 |
963 | K>I | No |
ClinGen TOPMed |
|
|
CA348989589 rs1388945749 |
964 | C>Y | No |
ClinGen gnomAD |
|
|
CA1934043 rs772346895 |
966 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA348989509 rs749488690 |
967 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs749488690 CA1934021 |
967 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348989459 rs1344990810 |
970 | T>S | No |
ClinGen gnomAD |
|
|
CA348989449 rs1157070326 |
971 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA59652219 rs1020370941 |
972 | M>T | No |
ClinGen Ensembl |
|
|
rs1422159059 CA348989373 |
974 | H>R | No |
ClinGen gnomAD |
|
|
rs1275893140 CA348989275 |
978 | D>A | No |
ClinGen TOPMed |
|
|
CA1934016 rs372007025 |
979 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1006604753 CA59652163 |
980 | P>L | No |
ClinGen TOPMed |
|
|
CA1934014 rs745702496 |
981 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs778652563 CA1934013 |
982 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1934010 rs763680693 |
984 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934011 rs753514874 |
984 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1934009 rs755586435 |
985 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs767968518 CA1934007 |
987 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1934005 rs766879801 |
990 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1934004 rs766879801 |
990 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361357020 CA348988912 |
999 | Q>K | No |
ClinGen gnomAD |
|
|
rs151037370 CA1934000 CA1934001 |
1000 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1456406638 CA348988899 |
1000 | Y>C | No |
ClinGen gnomAD |
|
|
CA348988904 rs1163178795 |
1000 | Y>N | No |
ClinGen gnomAD |
|
|
rs1165389983 CA348988885 |
1002 | K>M | No |
ClinGen gnomAD |
|
|
CA348988876 rs1260734475 |
1003 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348988874 rs1260734475 |
1003 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs745851965 CA1933997 |
1005 | E>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001170024 rs1690942194 |
1007 | P>H | No |
ClinVar dbSNP |
|
|
CA348988835 rs1304821268 |
1009 | T>R | No |
ClinGen gnomAD |
|
|
CA348988834 rs1207718551 |
1010 | F>I | No |
ClinGen gnomAD |
|
|
CA1933996 rs528639734 |
1012 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs931567064 CA59652072 |
1012 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs35369989 CA59652069 |
1014 | D>E | No |
ClinGen Ensembl |
|
|
CA348988787 rs1394429503 |
1014 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1015 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1933995 rs547782932 |
1015 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348988774 rs547782932 |
1015 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1933993 rs777469992 |
1018 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA348988744 rs777469992 |
1018 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755779570 CA1933992 |
1020 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1345435216 CA348988730 |
1020 | L>S | No |
ClinGen TOPMed |
|
|
CA348988690 rs1385374454 |
1022 | S>R | No |
ClinGen gnomAD |
|
|
rs1559808617 CA348988686 |
1023 | D>H | No |
ClinGen Ensembl |
5 associated diseases with Q9BYX4
[MIM: 610155]: Diabetes mellitus, insulin-dependent, 19 (IDDM19)
A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:16699517}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
[MIM: 615846]: Aicardi-Goutieres syndrome 7 (AGS7)
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269|PubMed:24686847, ECO:0000269|PubMed:24995871}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 182250]: Singleton-Merten syndrome 1 (SGMRT1)
An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. {ECO:0000269|PubMed:25620204}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619773]: Immunodeficiency 95 (IMD95)
An autosomal recessive disorder characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood, and impaired interferon production during viral infection. {ECO:0000269|PubMed:28606988, ECO:0000269|PubMed:29018476}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:16699517}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
- A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269|PubMed:24686847, ECO:0000269|PubMed:24995871}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. {ECO:0000269|PubMed:25620204}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive disorder characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood, and impaired interferon production during viral infection. {ECO:0000269|PubMed:28606988, ECO:0000269|PubMed:29018476}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q9BYX4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 73 - 331 | IPR000719 |
| domain | EF-hand domain | 444 - 513 | IPR002048 |
| active_site | Serine/threonine-protein kinase, active site | 193 - 205 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 79 - 106 | IPR017441 |
| binding_site | EF-Hand 1, calcium-binding site | 491 - 503 | IPR018247 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| identical protein binding | Binding to an identical protein or proteins. |
| ribonucleoprotein complex binding | Binding to a complex of RNA and protein. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
| zinc ion binding | Binding to a zinc ion (Zn). |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to exogenous dsRNA | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
| cellular response to virus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
| cytoplasmic pattern recognition receptor signaling pathway in response to virus | The series of molecular signals initiated by the binding of a virus or viral RNA binding to a pattern recognition receptor (PRR) located in the cytoplasm. Cytosolic PRRs such as RIG-I (DDX58) and MDA-5 (IFIH1) detect RNA synthesized during active viral replication and trigger a signaling pathway to protect the host against viral infection, for example by inducing the expression of antiviral cytokines. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| detection of virus | The series of events in which a stimulus from a virus is received and converted into a molecular signal. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| MDA-5 signaling pathway | The series of molecular signals initiated by viral RNA binding of a cytoplasmic pattern recognition receptor (PRR) MDA-5 (also known as IFIH1). MDA-5 is a cytoplasmic receptor that detects RNA synthesized during viral replication and triggers a signaling pathway to protect the host against viral infection, for example by inducing the expression of antiviral cytokines. |
| negative regulation of viral genome replication | Any process that stops, prevents, or reduces the frequency, rate or extent of viral genome replication. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of response to cytokine stimulus | Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| protein sumoylation | The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxy-terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein. |
| regulation of type III interferon production | Any process that modulates the frequency, rate, or extent of type III interferon production. Interferon lambda is the only member of the type III interferon found so far. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95786 | RIGI | Antiviral innate immune response receptor RIG-I | Homo sapiens (Human) | EV |
| Q96C10 | DHX58 | ATP-dependent RNA helicase DHX58 | Homo sapiens (Human) | PR |
| Q9UPY3 | DICER1 | Endoribonuclease Dicer | Homo sapiens (Human) | EV |
| Q6Q899 | Ddx58 | Antiviral innate immune response receptor RIG-I | Mus musculus (Mouse) | SS |
| Q8R5F7 | Ifih1 | Interferon-induced helicase C domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q9GLV6 | DDX58 | Antiviral innate immune response receptor RIG-I | Sus scrofa (Pig) | SS |
| P34529 | dcr-1 | Endoribonuclease dcr-1 | Caenorhabditis elegans | PR |
| Q6TV19 | dicer1 | Endoribonuclease Dicer | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSNGYSTDEN | FRYLISCFRA | RVKMYIQVEP | VLDYLTFLPA | EVKEQIQRTV | ATSGNMQAVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLLSTLEKGV | WHLGWTREFV | EALRRTGSPL | AARYMNPELT | DLPSPSFENA | HDEYLQLLNL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQPTLVDKLL | VRDVLDKCME | EELLTIEDRN | RIAAAENNGN | ESGVRELLKR | IVQKENWFSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FLNVLRQTGN | NELVQELTGS | DCSESNAEIE | NLSQVDGPQV | EEQLLSTTVQ | PNLEKEVWGM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ENNSSESSFA | DSSVVSESDT | SLAEGSVSCL | DESLGHNSNM | GSDSGTMGSD | SDEENVAARA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SPEPELQLRP | YQMEVAQPAL | EGKNIIICLP | TGSGKTRVAV | YIAKDHLDKK | KKASEPGKVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLVNKVLLVE | QLFRKEFQPF | LKKWYRVIGL | SGDTQLKISF | PEVVKSCDII | ISTAQILENS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLNLENGEDA | GVQLSDFSLI | IIDECHHTNK | EAVYNNIMRH | YLMQKLKNNR | LKKENKPVIP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LPQILGLTAS | PGVGGATKQA | KAEEHILKLC | ANLDAFTIKT | VKENLDQLKN | QIQEPCKKFA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IADATREDPF | KEKLLEIMTR | IQTYCQMSPM | SDFGTQPYEQ | WAIQMEKKAA | KEGNRKERVC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AEHLRKYNEA | LQINDTIRMI | DAYTHLETFY | NEEKDKKFAV | IEDDSDEGGD | DEYCDGDEDE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DDLKKPLKLD | ETDRFLMTLF | FENNKMLKRL | AENPEYENEK | LTKLRNTIME | QYTRTEESAR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GIIFTKTRQS | AYALSQWITE | NEKFAEVGVK | AHHLIGAGHS | SEFKPMTQNE | QKEVISKFRT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GKINLLIATT | VAEEGLDIKE | CNIVIRYGLV | TNEIAMVQAR | GRARADESTY | VLVAHSGSGV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IEHETVNDFR | EKMMYKAIHC | VQNMKPEEYA | HKILELQMQS | IMEKKMKTKR | NIAKHYKNNP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SLITFLCKNC | SVLACSGEDI | HVIEKMHHVN | MTPEFKELYI | VRENKALQKK | CADYQINGEI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ICKCGQAWGT | MMVHKGLDLP | CLKIRNFVVV | FKNNSTKKQY | KKWVELPITF | PNLDYSECCL |
| FSDED |