Q9Y3Q4
EV
Gene name |
HCN4 |
Protein name |
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10021 |
EC number |
|
Protein Class |
I[[H]] CHANNEL, ISOFORM E (PTHR45689) |
Descriptions
Hyperpolarization-activated cyclic nucleotide-gated (HCN) ion channels contribute to electrical activity in neurons and cardiomyocytes. HCN1-4 share a similar multidomain organization with an N-terminal transmembrane region, a C-terminal intracellular region (IR) and a cyclic nucleotide-binding domain (CBD). Channel opening is primarily stimulated by transmembrane elements that sense membrane hyperpolarization. In the absence of cAMP, the CBD shows steric clashes with the C-linker within IR, which become energetically unfavored. The steric clashes are eliminated by cAMP binding, which selects for a CBD state devoid of steric clashes with the tetrameric C-linker and facilitates channel opening.
Autoinhibitory domains (AIDs)
Target domain |
263-522 (Ion transport domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis |
Target domain |
263-522 (Ion transport domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis |
Accessory elements
No accessory elements
References
- Akimoto M et al. (2014) "A mechanism for the auto-inhibition of hyperpolarization-activated cyclic nucleotide-gated (HCN) channel opening and its relief by cAMP", The Journal of biological chemistry, 289, 22205-20
- Xu X et al. (2010) "Structural basis for the cAMP-dependent gating in the human HCN4 channel", The Journal of biological chemistry, 285, 37082-91
Autoinhibited structure
Activated structure
9 structures for Q9Y3Q4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2MNG | NMR | - | A | 579-707 | PDB |
| 3OTF | X-ray | 240 A | A | 521-739 | PDB |
| 3U11 | X-ray | 250 A | A/B | 521-723 | PDB |
| 4HBN | X-ray | 260 A | A | 521-724 | PDB |
| 4KL1 | X-ray | 270 A | A/B/C/D | 521-713 | PDB |
| 4NVP | X-ray | 250 A | A | 521-723 | PDB |
| 6GYN | EM | 340 A | A/B/C/D | 201-719 | PDB |
| 6GYO | EM | 340 A | A/B/C/D | 201-719 | PDB |
| AF-Q9Y3Q4-F1 | Predicted | AlphaFoldDB |
1144 variants for Q9Y3Q4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs772656493 RCV001054800 CA393099265 RCV002409455 |
6 | P>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001204912 RCV002339516 rs2043139529 |
16 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA393099145 rs868045953 RCV000678925 |
23 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532717 CA393099092 rs867068803 |
28 | E>K | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA301954 RCV001069920 RCV002372064 rs786205802 |
30 | E>K | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA393099072 RCV001228475 rs786205802 |
30 | E>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001119029 RCV001521286 RCV001705912 rs143090627 RCV000619819 CA180109 RCV000153356 |
36 | G>E | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001229870 CA10587884 RCV000252541 RCV002411845 RCV002519001 rs886039001 |
36 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
rs752597565 RCV002397582 RCV000794785 CA7649502 |
42 | D>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7649500 RCV002379006 rs759329385 RCV000232608 |
43 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001222910 rs2043138506 |
44 | S>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000557330 rs1416460262 RCV002491073 CA393098915 |
45 | R>L | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001035563 CA393098867 rs1425211418 RCV002400210 |
51 | R>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000647234 rs1555479061 CA393098869 |
51 | R>W | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411912 rs1029043200 CA272700504 RCV001248102 |
58 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000804698 rs1595837637 CA393098770 |
62 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA301956 RCV000808910 RCV000170937 rs786205803 |
66 | E>K | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs786205803 CA393098745 RCV001240953 |
66 | E>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000533863 rs771533338 CA7649495 |
70 | S>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001050282 rs2043137577 |
83 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1397898750 RCV001309105 |
85 | G>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs866449137 RCV001322716 |
87 | S>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614926 rs1060500108 RCV000471352 |
88 | S>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7649490 RCV002436380 RCV000458888 rs781730381 |
101 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA393098416 rs757662055 RCV000702046 |
104 | G>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000647240 CA7649489 RCV003162946 rs757662055 |
104 | G>S | Brugada syndrome 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043137058 RCV002320369 RCV001117435 |
107 | G>S | Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247207 RCV003132349 rs758437800 RCV003166557 CA7649486 |
111 | G>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000795745 rs1595837506 CA393098342 |
112 | G>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457013 CA7649484 RCV001564481 RCV002481363 rs765099391 RCV002323672 |
112 | G>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000539939 rs1370522527 CA393098262 |
121 | H>P | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555479000 RCV000553012 RCV002456187 CA393098246 |
123 | H>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2043136534 RCV001206759 |
124 | D>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002352190 RCV000700797 CA272700368 rs1056770175 |
127 | E>K | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs772764704 RCV002358848 CA7649478 RCV000647241 RCV000733527 |
132 | I>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767160441 RCV001231444 CA7649477 |
137 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000686495 rs1567801864 CA393098094 |
138 | S>F | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA301969 RCV000533549 RCV000763984 RCV000170945 RCV002326935 rs773857091 |
140 | G>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003278740 rs886043525 CA10605620 RCV000647230 RCV000346829 |
145 | P>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002332449 CA7649475 RCV000694866 rs768272301 |
145 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
TCGA novel RCV001316954 rs886043525 |
145 | P>S | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA7649474 RCV002329345 RCV001351771 rs531489450 |
149 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1392411769 CA393097974 RCV000707520 |
152 | P>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA238824 rs560874115 RCV000723946 RCV000618430 RCV000852712 RCV003224176 RCV001082507 RCV000157245 RCV001117433 |
153 | E>G | Brugada syndrome 8 Brugada syndrome Sick sinus syndrome 2, autosomal dominant Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA272700334 RCV000703412 RCV002334371 RCV002493234 rs924203370 |
156 | G>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001244425 RCV001760278 RCV002491818 RCV002339676 rs957058060 |
162 | A>missing | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002478906 rs1489387068 RCV000817474 CA393097856 |
165 | P>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7649473 RCV001701042 RCV002341394 RCV000541404 rs771442346 |
166 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7649472 RCV001297467 rs747356931 |
172 | P>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001351793 rs542532555 |
174 | P>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002485073 CA301971 RCV000497368 rs542532555 RCV000467858 RCV000170946 RCV002336402 |
174 | P>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1464305426 RCV000704738 CA393097748 |
175 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2043135514 RCV001309191 |
176 | S>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315315 CA7649466 rs779906361 |
180 | E>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7649465 RCV000227711 rs755904697 |
182 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001212661 rs1450435726 RCV002348701 CA393097672 |
184 | V>M | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000490100 CA393097650 rs1085307696 RCV001851312 |
186 | T>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001853304 RCV000208159 rs761571946 CA087867 |
187 | A>T | Brugada syndrome 8 Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043135036 RCV001117431 RCV001856542 |
193 | G>C | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7649457 rs773676799 RCV000701013 |
194 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000622073 RCV001084301 CA235705 RCV000170947 rs201375192 RCV001117430 |
195 | A>V | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA272700157 rs894325793 RCV001323686 |
198 | D>E | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA393097544 RCV000553864 rs1168642170 |
198 | D>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000647229 CA7649453 rs768734319 CA393097523 RCV002358847 |
199 | Q>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA393097365 RCV001039723 rs912161486 |
216 | R>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1323141666 CA393097346 RCV000817622 |
217 | Q>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001038873 rs1427997752 |
219 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA272700028 RCV000700386 rs953554623 |
220 | A>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001348975 rs371771170 CA7649442 |
221 | M>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1456642227 CA393097269 RCV000702318 |
225 | G>E | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7649436 rs749389306 RCV002374990 RCV001069527 |
233 | M>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000497998 RCV002372280 rs745880598 RCV000227069 CA7649433 RCV003128609 |
242 | R>C | Brugada syndrome 8 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs191744064 RCV001065927 CA7649431 RCV002379143 RCV000347896 |
248 | K>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA393096963 RCV000705410 rs1567801364 |
259 | S>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222643 rs2043018365 |
280 | I>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325268 rs1057518303 RCV002374620 CA16043025 RCV000414110 |
299 | N>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001050273 rs2043017887 |
316 | T>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773269320 RCV002482110 RCV001067164 CA7649393 |
319 | V>M | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7649390 RCV001304191 rs778657724 RCV002384369 |
325 | E>D | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000818121 rs370442588 COSM195491 CA7649389 RCV002381845 |
330 | P>L | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA393095097 RCV000647235 rs1555477316 |
330 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000995398 RCV000622086 RCV001374085 rs368164073 CA7649384 COSM5004971 |
332 | R>Q | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002379869 COSM248884 RCV001227293 CA7649385 rs141185786 |
332 | R>W | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7649383 RCV000542848 CA393095063 RCV000852711 rs758797709 RCV000620654 |
335 | M>I | Brugada syndrome 8 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555477308 CA393095019 RCV000647244 |
341 | W>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs185719200 RCV001052015 CA7649381 RCV002379554 |
343 | M>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1170518463 RCV001241714 CA393094949 |
352 | V>M | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001210200 rs2043016942 |
357 | L>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7649372 RCV002424874 rs144168042 RCV000805873 |
363 | I>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM964682 rs151004999 RCV000839242 RCV001117429 RCV002429563 RCV001087693 CA7649370 |
364 | D>N | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000619497 rs151004999 CA393094871 RCV002483719 |
364 | D>Y | Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001058585 rs2043016672 |
368 | Y>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748658688 RCV002480727 RCV001221933 CA7649365 |
372 | R>Q | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM964681 RCV002293473 rs755356387 CA7649363 RCV003163166 RCV000693215 |
375 | R>C | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs758468167 COSM5849729 RCV001051690 RCV002478538 RCV000170938 RCV000619663 CA301958 |
378 | R>C | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. Sick sinus syndrome 2, autosomal dominant [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1347790774 CA393094784 RCV001319373 |
378 | R>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM308043 rs1420807618 CA393094723 RCV001294623 RCV002375338 |
387 | R>C | Brugada syndrome 8 biliary_tract Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001324626 CA393094724 rs1420807618 |
387 | R>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2043016217 RCV001337528 |
390 | R>missing | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM964680 rs918783630 RCV000817888 CA272684408 |
390 | R>C | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1374442 CA301960 rs786205804 RCV001216458 RCV000170939 |
393 | R>H | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001042796 rs2043016094 |
397 | Y>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16043944 RCV000415571 rs1057519276 |
414 | A>G | Sick sinus syndrome 2, autosomal dominant (sss2) Sick sinus syndrome 2, autosomal dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001324752 rs750638846 CA7649340 |
414 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002383851 rs201978086 RCV000852710 RCV003224292 CA7649338 RCV000474325 |
415 | V>M | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs573588965 RCV000763983 RCV002384192 CA7649330 RCV002223872 RCV000544788 |
433 | G>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM964676 rs1567777058 RCV000702672 CA393094377 |
436 | Q>H | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA393094281 RCV000686202 rs1567776985 |
450 | W>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001300435 rs1394017911 CA393094264 |
453 | I>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001208931 rs372632530 RCV002388414 RCV000786317 CA7649298 |
468 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7649297 RCV001218769 rs760413254 RCV002393520 |
468 | A>V | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000461207 RCV002393078 CA16614922 rs1060500105 |
473 | M>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA393094029 RCV001347542 RCV001773693 rs1226036490 |
473 | M>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001242799 rs2042921913 |
475 | H>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA117313 rs121908411 RCV000005484 |
480 | G>R | Sick sinus syndrome 2, autosomal dominant (sss2) Sick sinus syndrome 2, autosomal dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393656 rs121908411 RCV001246540 RCV001254756 COSM123547 |
480 | G>S | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. Left ventricular noncompaction cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs1060500103 CA16614737 RCV000471436 |
480 | G>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1057519275 CA16043943 RCV000693647 RCV001529223 RCV000415538 |
481 | Y>H | Sick sinus syndrome 2, autosomal dominant (sss2) Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001861463 RCV000178241 RCV000415605 RCV001729574 RCV000647252 CA202778 CA16043942 RCV002390435 rs794727637 |
482 | G>R | Sick sinus syndrome 2, autosomal dominant (sss2) Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM174955 CA272672089 RCV000538055 rs998387579 RCV002395428 |
483 | R>Q | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1304145729 CA393093899 RCV002395696 RCV001320340 RCV002476500 |
483 | R>W | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. Sick sinus syndrome 2, autosomal dominant [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
VAR_066614 CA393093865 rs1454748709 COSM3782909 |
485 | A>V | Variant assessed as Somatic; MODERATE impact. prostate SSS2; results in a significant reduction of current density compared to wild-type [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002390335 RCV001706022 CA234114 rs202037304 RCV000153354 RCV001089043 |
487 | V>M | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1060500107 CA393093803 RCV000824582 |
491 | D>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000462048 rs1060500107 COSM4056730 RCV001700182 CA16614921 |
491 | D>N | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567774949 RCV000690641 CA393093749 |
498 | S>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595822914 CA393093686 RCV000800610 |
504 | T>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7649279 RCV001210981 rs199852438 |
524 | R>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002224026 RCV002402635 rs1474216387 RCV001213508 CA393093388 |
526 | Q>E | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA393093311 rs1555475961 RCV003223658 RCV001247767 RCV000618670 |
530 | K>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229538 rs2042893576 COSM74874 |
534 | V>M | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs375571257 CA7649250 RCV001046506 RCV002552595 |
538 | M>V | Brugada syndrome 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000005482 rs1057519015 |
544 | P>missing | Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001564440 rs370884239 CA7649241 RCV002404502 RCV000558117 |
546 | D>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001203151 rs2042893178 RCV002402579 |
548 | R>W | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150691273 CA7649239 VAR_086273 |
550 | R>C | EIG18; associated with disease susceptibility; alters the channel kinetics by causing a leftward shift in the voltage dependence of the channel activation curve; neurons expressing mutant channels present lower current thresholds to firing and higher firing rates [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1937647 CA117311 VAR_026534 rs104894485 RCV000005483 RCV001851666 |
553 | D>N | Sick sinus syndrome 2, autosomal dominant (sss2) Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. Sick sinus syndrome 2, autosomal dominant SSS2 [Ensembl, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs767926374 RCV001772138 RCV000822786 RCV002397728 CA7649236 |
554 | Y>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002402877 rs201811340 RCV001313075 CA7649227 |
565 | D>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001351534 CA393091945 rs1480242620 |
566 | E>K | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000185509 RCV000620504 RCV001537804 RCV000234448 CA235699 RCV001115973 rs138714806 |
568 | S>T | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000590926 rs764493888 CA7649218 |
575 | E>D | Brugada syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001298828 rs752953709 CA070479 RCV000208348 COSM320776 |
578 | R>W | lung Brugada syndrome 8 Ventricular tachycardia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA393091118 RCV001061395 RCV002402435 rs1204195890 |
583 | N>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7649188 rs761600737 RCV003169580 RCV001337292 |
587 | R>Q | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002499539 RCV001796427 rs775019344 RCV001294860 CA7649184 COSM964674 |
599 | A>V | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. Sick sinus syndrome 2, autosomal dominant endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000852466 RCV000171646 rs201319883 CA236705 RCV000822299 |
614 | E>K | Brugada syndrome 8 Ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2042890755 RCV001120902 |
615 | V>G | Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551679 rs545156905 COSM6040947 CA393090698 |
624 | R>W | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001248061 rs200737571 CA236703 RCV003298205 RCV000171645 |
632 | M>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002408779 CA246701 rs563194186 RCV000179452 RCV001346820 |
639 | V>M | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs779402752 RCV002285423 CA7649165 RCV000866660 RCV002409045 |
642 | V>M | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000497873 CA393090566 rs1555475541 |
643 | L>R | Sudden cardiac death [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000415565 rs1057519274 |
645 | K>missing | Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053097 rs377612051 |
656 | S>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042889743 RCV001057145 |
657 | Y>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002224051 RCV001304652 RCV002486182 rs1265876338 CA393090400 |
663 | L>M | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001063325 rs2042885237 |
666 | R>missing | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473313 rs199943122 CA16614728 RCV001700116 |
666 | R>W | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001238553 RCV000439771 CA7649141 rs757268783 COSM1374438 |
668 | R>Q | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA117310 RCV000005481 rs104894488 VAR_026535 |
672 | S>R | Sick sinus syndrome 2, autosomal dominant (sss2) Sick sinus syndrome 2, autosomal dominant SSS2; results in decreased affinity for cAMP but does not abolish channel activation; shifts the current activation range to hyperpolarized voltages; slows channel opening and speeds up channel closure [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA393090306 rs1337923566 COSM1195153 RCV001860389 RCV000621028 |
673 | V>M | lung Brugada syndrome 8 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA16614560 RCV002418348 rs1060500102 RCV000469835 |
676 | D>E | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2042884997 RCV001205666 |
678 | Y>missing | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042884985 RCV002418800 RCV001232760 |
679 | C>Y | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042884942 RCV001295593 |
683 | S>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1937636 RCV000802779 rs550848544 CA7649132 |
686 | V>M | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs931375055 RCV001323268 |
697 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1181444062 RCV000621222 CA393090018 RCV001860385 |
698 | M>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs758371313 RCV002429469 RCV000471705 CA7649121 |
713 | R>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA393089642 RCV001350299 rs1360972645 |
717 | K>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002424487 rs200468312 COSM964670 RCV000647236 CA7649081 RCV000995395 |
728 | D>N | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000171644 rs199530458 RCV000822988 CA236701 |
732 | G>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1482088586 CA393089454 RCV001060067 RCV002429684 |
733 | V>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000208061 RCV002426977 RCV000379734 CA068221 rs376631391 RCV002478748 RCV000697233 |
733 | V>I | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001704562 RCV000474429 rs146732972 CA7649076 RCV000617845 |
737 | Q>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000621814 CA272665085 rs1029680367 RCV001860370 |
738 | E>K | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2042881779 RCV001349650 |
739 | N>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223101 rs1438842471 CA393089312 |
745 | I>M | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7649068 RCV000805592 rs774330689 |
750 | R>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000208176 rs762856084 CA353926 |
754 | H>R | Arrhythmogenic right ventricular cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA393089238 RCV001295644 rs1323887002 |
754 | H>Y | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs143339036 CA7649065 RCV001842016 COSM195483 RCV003324803 RCV001404995 RCV002442786 |
756 | A>T | Cardiac arrhythmia Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003165378 rs373284500 RCV000647231 CA247665 RCV000180282 COSM5645992 |
758 | R>H | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000204998 RCV001084342 RCV000617204 CA235701 rs62641689 RCV000170931 RCV000185511 RCV001120898 |
759 | V>I | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant Sudden cardiac death [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs375146815 RCV001244603 CA7649058 |
763 | A>D | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA7649056 RCV000469737 rs750833108 |
765 | A>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7649046 RCV001120897 rs776635828 RCV001882394 COSM1254002 |
772 | V>I | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. oesophagus Sick sinus syndrome 2, autosomal dominant breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs776635828 RCV001235179 CA7649045 |
772 | V>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA393089133 rs1173397954 RCV001351871 |
773 | I>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1008825259 CA272664908 RCV000694706 RCV002442459 |
776 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002223224 RCV002483466 RCV002448741 RCV000526873 CA7649044 rs148714049 |
776 | P>T | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693769 CA393089072 rs1567769296 |
782 | L>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1453283899 CA393089061 RCV001055916 |
784 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000688418 RCV002442429 rs771516987 CA7649041 |
786 | A>T | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002451576 rs756650627 CA7649038 RCV001238039 |
792 | A>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000647245 rs1302650781 CA393089012 |
793 | I>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA393088998 RCV002458343 RCV002507298 RCV000731640 rs1435000428 RCV001063929 |
795 | L>F | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000811194 rs181894662 RCV002453832 RCV002478880 CA7649036 |
800 | R>C | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002527021 RCV001060460 RCV000852709 rs375180021 RCV000489092 CA7649035 |
800 | R>H | Brugada syndrome 8 Cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000803246 CA393088964 rs375180021 |
800 | R>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs181894662 RCV001302394 |
800 | R>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702777 CA7649032 rs758427944 RCV002442515 COSM3816704 |
807 | R>C | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000647249 rs200395062 RCV000711884 RCV002446971 CA090974 |
807 | R>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7649029 RCV001322968 rs776656247 |
811 | G>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001301570 CA7649028 rs766096127 |
813 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002426811 RCV000170948 CA301973 rs761337460 RCV000465418 |
820 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002429426 RCV000466786 CA7649023 rs201143364 RCV001704491 |
822 | T>M | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001046736 CA393088835 rs1404251013 |
824 | R>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000623481 rs1555475311 |
834 | P>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647243 COSM1735271 rs755045071 CA7649014 |
836 | A>V | Brugada syndrome 8 pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs761507884 CA7649009 RCV002424620 RCV000691260 |
840 | A>T | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200546024 RCV000223954 RCV002453581 RCV000170941 CA235703 |
841 | S>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs777023781 COSM964668 RCV001062392 RCV000733914 CA301964 |
843 | A>T | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2042878358 RCV001326611 |
845 | S>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000711885 rs747467877 RCV000456750 COSM140070 RCV003168728 CA7649005 |
846 | P>L | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. urinary_tract skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001296051 CA236699 RCV000171643 rs202138767 |
849 | V>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7649001 COSM1749302 RCV000702797 RCV002480042 rs779241036 RCV000326913 |
852 | P>L | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001205571 CA7648998 rs756140673 |
857 | F>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000694854 CA272664581 rs767354516 |
863 | A>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001217859 CA7648992 rs775134377 |
869 | A>P | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775134377 CA7648993 RCV002424784 RCV001345579 RCV000788224 |
869 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001041236 CA7648991 rs540848262 |
869 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2042877637 RCV001314069 |
872 | S>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7648988 rs773525527 RCV001244604 |
872 | S>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA393088515 rs1265789896 RCV001041133 |
877 | S>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA163178 RCV000578029 RCV000711887 RCV000620859 RCV000577973 RCV000125353 RCV000852708 RCV000232306 rs148398509 |
883 | P>R | Sick sinus syndrome 2, autosomal dominant (sss2) Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant Atrial fibrillation Left ventricular noncompaction [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001321612 rs780235330 CA7648982 |
883 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001298618 CA272664436 RCV000619207 rs745819208 |
884 | P>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219696 rs757066783 CA7648979 |
885 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000620478 RCV000852707 RCV000180274 RCV001085688 CA203631 RCV000711888 rs200575377 |
886 | A>V | Brugada syndrome 8 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs184801511 RCV001321640 |
890 | P>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647237 RCV002424488 rs758929649 CA7648974 RCV001584491 |
890 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7648975 RCV002427177 RCV000871274 RCV001545371 rs184801511 |
890 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7648972 RCV000861494 rs768190354 |
891 | S>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2042876797 RCV001308543 |
892 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA272664364 RCV001591252 RCV002431666 rs370669201 RCV000540827 |
899 | V>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs201742383 RCV000619580 RCV001118937 RCV000480340 CA7648968 RCV000464894 |
901 | A>T | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1179112808 RCV001047135 RCV002436577 CA393088323 |
904 | I>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000786320 RCV000461295 CA7648965 rs373572497 RCV000852465 RCV002502601 RCV002429470 |
906 | G>R | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant Atrial fibrillation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA393088250 rs200814534 CA7648964 RCV001088501 RCV000711890 RCV000245405 |
910 | F>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1595819839 RCV000798661 |
912 | K>missing | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704980 RCV002440534 CA272664284 rs1020318942 |
922 | D>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001316064 rs766277314 |
926 | L>missing | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1482640658 RCV000853600 CA393088027 |
928 | P>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001224415 CA272664258 rs1016286710 |
928 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001222145 rs2042875494 |
930 | Q>* | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7648953 rs762464413 RCV000804649 |
933 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199638465 RCV001081084 RCV000619408 CA301952 RCV000710142 |
934 | R>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369485237 RCV002433782 RCV001240664 CA247655 RCV000180272 |
934 | R>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000223698 RCV000989357 rs775803239 RCV000726145 RCV002433736 CA301966 |
935 | S>F | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000546891 rs775803239 CA7648952 RCV002438453 |
935 | S>Y | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001223993 CA7648951 rs769959023 RCV002497764 RCV002436872 |
936 | P>L | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776757023 RCV001055493 CA7648949 |
937 | Q>* | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA7648948 RCV001070063 rs770942098 |
937 | Q>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA393087387 RCV002436567 RCV001044273 rs1455977664 |
943 | P>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002440333 RCV000647269 CA7648946 RCV001562046 rs777648103 |
944 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144450232 RCV000620536 RCV000170934 CA199743 RCV000711891 RCV001081519 |
944 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002491817 RCV002436962 CA7648944 rs778739758 RCV001244410 |
945 | P>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001868099 RCV000619744 rs753524680 RCV001756001 CA7648942 |
947 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752139441 CA7648939 RCV001201786 |
949 | R>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7648940 rs755614529 RCV000870384 RCV001565701 RCV001118935 RCV002434113 |
949 | R>W | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA393087270 RCV000530801 rs1555475226 |
953 | G>E | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000543840 RCV002436119 CA7648936 RCV000361652 rs371562763 |
955 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002436942 CA7648937 rs371562763 RCV001239236 |
955 | P>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001225637 rs2042874508 |
959 | L>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000444935 RCV002436351 CA16607867 RCV000560748 rs1057524285 |
959 | L>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001209542 RCV002436808 rs2042874463 |
960 | P>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002484369 RCV001760282 RCV001245782 rs750207209 |
962 | P>missing | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000433991 RCV001323315 CA7648930 rs548194804 |
968 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs771946238 RCV001351338 CA7648927 |
972 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001118934 CA7648924 rs200495478 RCV000763982 RCV002440448 RCV000691006 RCV000995391 |
973 | G>R | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200495478 CA7648925 RCV001299867 |
973 | G>W | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001306370 RCV002437044 rs1382370606 |
977 | Q>K | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7648918 RCV002495097 RCV000805064 RCV002440710 rs367719274 |
980 | G>A | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001118933 CA7648919 RCV002436031 RCV000229127 rs780719805 |
980 | G>R | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1395656450 RCV001300689 |
981 | E>* | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199798661 RCV000647232 RCV002289942 CA7648912 |
993 | T>M | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs538668505 CA272663979 RCV000697356 RCV002440489 COSM3690522 RCV002485699 RCV001585639 |
999 | R>W | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. Sick sinus syndrome 2, autosomal dominant large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1060500106 CA16614917 RCV000471617 |
1002 | E>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001209457 CA393086462 rs1475883901 |
1003 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000852706 RCV001086425 RCV000726615 RCV002436127 CA7648905 rs201418838 |
1004 | P>S | Brugada syndrome 8 Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000678942 rs780624939 CA7648903 |
1005 | S>F | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001772010 CA393086402 RCV000706376 rs748634893 RCV002440546 RCV002485771 |
1010 | A>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436357 rs890395300 RCV000429781 RCV002481341 CA16607866 RCV001221790 |
1011 | S>P | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567767635 CA393086359 RCV000688178 |
1014 | A>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764138171 CA7648891 RCV000691709 |
1020 | T>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213655 rs1469282261 CA393086288 |
1021 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7648890 RCV002506357 RCV002223873 rs762950777 RCV000559988 |
1022 | R>* | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA393086283 rs1205818947 RCV001051955 RCV003160404 |
1022 | R>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs775491475 RCV002319557 CA7648889 RCV000693253 |
1024 | G>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA272663736 RCV002320273 RCV001048188 rs928266429 |
1034 | P>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002484109 RCV001204692 CA393086215 rs1158677290 RCV002322006 |
1034 | P>S | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA393086217 RCV000804308 rs1158677290 RCV002325557 |
1034 | P>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000698302 rs572132730 CA7648882 |
1039 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001323808 rs2042871424 RCV002319936 |
1042 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000180279 rs750637152 RCV001210700 CA247663 RCV002321709 |
1044 | R>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704521 rs553950644 CA7648879 RCV001117324 |
1044 | R>W | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000797624 rs980750316 RCV002325525 CA272663688 |
1045 | A>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001053613 rs1443227484 RCV002320209 RCV002505511 CA393086121 |
1050 | G>R | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002322297 rs1486632648 RCV001349039 |
1057 | A>missing | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16620005 RCV000480454 RCV001226827 RCV002506180 RCV002323842 rs1064796786 |
1058 | S>A | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1160260831 CA393086061 RCV001036509 |
1060 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1010963303 RCV001337644 CA16622141 |
1061 | P>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001320749 rs2042870785 |
1062 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000620330 rs535227661 CA7648874 RCV000477327 RCV001584126 |
1063 | P>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001202876 rs2042870599 |
1065 | V>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001366014 RCV000180283 CA247667 rs765155640 RCV002321710 |
1066 | P>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7648871 RCV002487844 RCV000821551 rs776270218 |
1068 | R>H | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002320252 rs770658894 RCV001699502 RCV001117323 CA7648870 RCV001042004 |
1069 | R>W | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002289585 rs772839442 RCV002446767 CA7648868 RCV000786319 RCV000465826 |
1070 | G>D | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000647233 RCV001562285 CA7648865 rs982016034 RCV001117322 RCV002449059 |
1073 | P>L | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002320332 rs200399862 CA7648864 RCV001065763 |
1074 | L>F | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002320269 RCV002471015 rs746291340 CA7648861 RCV001047439 |
1077 | G>S | Sick sinus syndrome 2, autosomal dominant (sss2) Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000791636 RCV002298773 CA7648860 rs781376523 |
1078 | R>C | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1429735613 CA393085969 COSM53499 RCV001319229 |
1078 | R>H | Brugada syndrome 8 liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV002493767 CA393085950 rs1419820366 RCV002322288 RCV001344875 |
1081 | Q>R | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1050326641 CA272663481 RCV000852464 RCV000536030 |
1088 | A>T | Brugada syndrome 8 Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003163662 CA7648856 RCV003318397 RCV001216335 rs758484576 |
1088 | A>V | Brugada syndrome 8 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002448742 RCV000548525 RCV002476178 CA7648853 rs753734843 |
1097 | G>R | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000556954 CA16621676 RCV002489184 RCV002455941 rs1064797200 RCV000487975 |
1098 | A>V | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000591412 RCV000475198 rs760392343 RCV002323673 RCV000852463 CA7648851 |
1102 | R>C | Brugada syndrome 8 Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7648850 RCV000763981 rs548130184 RCV000703047 RCV002325422 |
1102 | R>H | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10583260 RCV000229597 rs878854774 |
1103 | R>G | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232104 RCV000153351 RCV002477330 RCV001117320 RCV003311683 RCV000618938 CA180105 RCV000852705 rs142735148 |
1113 | M>V | Brugada syndrome 8 Cardiomyopathy Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001529696 RCV000225843 RCV000180280 CA203635 RCV001117319 RCV000619041 rs140402087 |
1117 | P>L | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000647246 rs1165134160 CA393085496 |
1118 | L>P | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002453641 RCV000180278 RCV001852243 rs794727919 CA247661 |
1121 | R>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001351225 rs981056449 RCV002456528 CA272663334 |
1124 | G>D | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs748279911 RCV002476179 CA7648839 RCV000995388 RCV000550020 RCV002456186 |
1127 | G>R | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000622158 RCV000658270 RCV001066403 CA7648838 rs779132775 |
1128 | G>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs727503957 CA234110 RCV000153350 RCV003298163 RCV001857528 |
1128 | G>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001317902 rs2042868269 |
1129 | S>N | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697742 RCV000517642 CA393085425 rs1326171404 |
1130 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs532186403 RCV001215959 RCV001065644 RCV002451475 CA7648834 CA7648835 RCV002451280 RCV002479386 RCV002509606 |
1133 | G>R | Sick sinus syndrome 2, autosomal dominant Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000647250 CA7648830 rs761421530 |
1136 | G>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000539007 rs1377027284 CA393085389 |
1136 | G>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs773914774 RCV002460105 CA7648829 RCV001575826 RCV000704187 |
1137 | P>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16614915 RCV000621104 rs915209025 RCV000462309 |
1138 | P>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs746402732 RCV000621990 RCV001059075 RCV002223230 |
1140 | R>missing | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555475094 RCV000551487 CA393085348 |
1143 | G>V | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216524 rs2042867595 RCV003294042 |
1149 | H>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854750 RCV000711892 CA7648821 rs772491303 |
1150 | V>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001053439 rs2042867531 |
1151 | T>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145862018 RCV002460051 CA236697 RCV000799609 RCV000171642 |
1154 | R>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7648816 COSM6142802 RCV000519079 COSM1517535 RCV002451063 RCV000475375 rs756052150 |
1163 | P>H | lung Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002285374 rs779811451 CA7648817 RCV000621136 RCV001339711 |
1163 | P>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750255859 CA7648815 RCV001053934 |
1164 | P>A | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000170944 RCV002453582 RCV000527488 rs774674047 RCV000767026 RCV002485072 |
1166 | S>missing | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000171563 RCV001530062 rs786205259 RCV002478543 RCV002453588 RCV000647239 |
1168 | F>missing | Brugada syndrome 8 Sick sinus syndrome 2, autosomal dominant Sinus node disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA393085090 rs1374291021 RCV001036308 |
1168 | F>S | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA301975 RCV001852047 rs751152874 RCV000170949 |
1171 | R>I | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003168729 RCV000468350 CA16614912 rs1060500104 |
1176 | G>R | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001344531 COSM4898413 rs2042866287 |
1178 | P>L | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001211672 CA7648806 rs761260469 |
1181 | T>P | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002451064 RCV000456499 CA16614725 rs372243234 |
1190 | A>T | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA7648802 rs774400171 RCV000703352 |
1192 | P>L | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000619356 CA236695 rs200507617 RCV000171641 RCV001084908 COSM701285 |
1193 | E>Q | lung Brugada syndrome 8 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM4623164 RCV000647247 rs780977563 CA7648797 |
1196 | R>C | Brugada syndrome 8 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000180273 RCV001726025 CA203629 RCV000463104 rs147181577 RCV000621437 |
1196 | R>H | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000647248 RCV000596045 CA272662970 RCV002456314 rs146751122 |
1199 | L>Q | Brugada syndrome 8 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
COSM3667746 CA7648790 rs768028811 RCV000647251 RCV002458111 |
1202 | N>S | Brugada syndrome 8 liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1230881569 CA393099289 |
2 | D>E | No |
ClinGen TOPMed |
|
|
rs1267513363 CA393099282 |
3 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393099283 rs1267513363 |
3 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393099284 rs1267513363 |
3 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA272700755 rs927046568 |
5 | P>Q | No |
ClinGen TOPMed |
|
|
CA393099272 rs1204027135 |
5 | P>S | No |
ClinGen gnomAD |
|
|
rs772656493 CA7649512 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1240695970 CA393099260 |
7 | S>Y | No |
ClinGen TOPMed |
|
|
rs749801134 CA7649510 |
8 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA393099254 rs749801134 |
8 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1595837779 CA393099257 |
8 | M>V | No |
ClinGen Ensembl |
|
|
rs1045593470 CA393099247 |
9 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1045593470 CA272700744 |
9 | R>P | No |
ClinGen gnomAD |
|
|
CA393099230 rs1247194443 |
12 | L>F | No |
ClinGen TOPMed |
|
|
rs1438584059 CA393099225 |
13 | Y>H | No |
ClinGen gnomAD |
|
|
CA272700726 rs969545699 |
16 | P>S | No |
ClinGen TOPMed |
|
|
rs867043389 CA272700685 |
17 | Q>H | No |
ClinGen Ensembl |
|
|
CA393099173 rs1358888636 |
19 | V>A | No |
ClinGen gnomAD |
|
|
rs915677456 CA272700678 |
19 | V>L | No |
ClinGen Ensembl |
|
|
CA272700680 rs915677456 |
19 | V>M | No |
ClinGen Ensembl |
|
|
rs868149827 CA393099168 |
20 | G>R | No |
ClinGen gnomAD |
|
|
rs868149827 CA272700669 |
20 | G>W | No |
ClinGen gnomAD |
|
|
CA272700649 rs867522153 |
21 | A>D | No |
ClinGen Ensembl |
|
| COSM1374446 | 21 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393099152 rs1595837744 |
22 | K>E | No |
ClinGen Ensembl |
|
|
rs867204798 CA272700602 |
22 | K>N | No |
ClinGen Ensembl |
|
|
rs781573072 CA272700591 |
23 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA272700597 rs868045953 |
23 | A>S | No |
ClinGen Ensembl |
|
|
rs781573072 CA7649507 |
23 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393099130 rs1479330429 |
24 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393099105 rs1265363121 |
26 | M>I | No |
ClinGen gnomAD |
|
|
CA393099113 rs1172106722 |
26 | M>L | No |
ClinGen TOPMed |
|
|
CA272700586 rs867068803 |
28 | E>* | No |
ClinGen Ensembl |
|
|
rs989762782 CA272700578 |
28 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA16622143 rs991540673 |
29 | E>G | No |
ClinGen gnomAD |
|
|
CA272700573 rs868043327 |
29 | E>K | No |
ClinGen Ensembl |
|
|
CA7649506 rs757500423 |
31 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA393099036 rs1486991862 |
33 | E>D | No |
ClinGen gnomAD |
|
|
rs751823089 CA7649505 |
34 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA393099005 rs1276311576 |
37 | A>P | No |
ClinGen gnomAD |
|
|
CA393098993 rs1218127033 |
38 | G>E | No |
ClinGen gnomAD |
|
|
CA393098997 rs1269475108 |
38 | G>R | No |
ClinGen gnomAD |
|
|
CA393098990 rs1338572189 |
39 | G>C | No |
ClinGen gnomAD |
|
|
rs1300096638 CA393098978 |
40 | R>C | No |
ClinGen gnomAD |
|
|
rs1400904747 CA393098973 |
40 | R>H | No |
ClinGen gnomAD |
|
|
rs765179741 CA7649501 |
42 | D>A | No |
ClinGen ExAC |
|
|
CA393098917 rs1416460262 |
45 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1330528056 CA393098908 |
46 | R>T | No |
ClinGen TOPMed |
|
|
rs1426506590 CA393098897 |
47 | S>N | No |
ClinGen gnomAD |
|
|
rs776352142 CA7649499 |
48 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393098885 rs1477109893 |
49 | R>G | No |
ClinGen gnomAD |
|
|
rs1297165703 CA393098860 |
52 | P>L | No |
ClinGen Ensembl |
|
|
CA393098851 rs1193737227 |
53 | L>P | No |
ClinGen gnomAD |
|
|
rs1567802231 CA393098816 |
57 | S>F | No |
ClinGen Ensembl |
|
|
CA272700507 rs1023219329 |
57 | S>P | No |
ClinGen gnomAD |
|
|
CA7649498 rs766148703 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA393098813 rs1029043200 |
58 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393098799 rs1555479053 |
59 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 59 | S>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432580542 CA393098764 |
63 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA393098769 rs1319902889 |
63 | G>S | No |
ClinGen gnomAD |
|
|
rs760387977 CA7649497 |
65 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393098732 rs1595837618 |
67 | S>Y | No |
ClinGen Ensembl |
|
|
CA393098728 rs962306052 |
68 | R>G | No |
ClinGen gnomAD |
|
|
CA393098726 rs1160213657 |
68 | R>Q | No |
ClinGen TOPMed |
|
|
rs962306052 CA272700493 |
68 | R>W | No |
ClinGen gnomAD |
|
|
CA393098704 rs1360146681 |
71 | A>T | No |
ClinGen gnomAD |
|
|
CA393098698 rs1451861074 |
71 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464572850 CA393098643 |
78 | E>K | No |
ClinGen gnomAD |
|
|
rs1555479039 RCV000522606 CA393098629 |
79 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA393098624 rs1595837594 |
80 | P>A | No |
ClinGen Ensembl |
|
|
rs1595837586 CA393098615 |
81 | A>G | No |
ClinGen Ensembl |
|
|
RCV000619278 CA393098608 rs1170776732 |
82 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs770361300 CA393098598 |
83 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770361300 CA7649492 |
83 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266912247 CA393098595 |
84 | A>T | No |
ClinGen TOPMed |
|
|
rs1397898750 CA393098579 |
85 | G>D | No |
ClinGen gnomAD |
|
|
rs1019029244 CA272700470 |
86 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1472909888 CA393098578 |
86 | K>Q | No |
ClinGen gnomAD |
|
|
CA272700475 rs549753996 |
86 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs866449137 CA272700459 |
87 | S>F | No |
ClinGen Ensembl |
|
|
CA393098553 rs1265825959 |
88 | S>R | No |
ClinGen TOPMed |
|
|
rs1459039632 CA393098543 |
89 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7649491 rs746252218 |
91 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253825124 CA393098512 |
93 | C>S | No |
ClinGen TOPMed |
|
|
CA393098496 rs1199371021 |
94 | R>S | No |
ClinGen gnomAD |
|
|
CA393098488 rs1321152002 |
95 | R>L | No |
ClinGen gnomAD |
|
|
rs1287771387 CA393098477 |
96 | F>L | No |
ClinGen gnomAD |
|
|
rs1230290081 CA393098473 |
97 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173309336 CA393098456 |
99 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 101 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393098427 rs1595837529 |
102 | S>L | No |
ClinGen Ensembl |
|
|
rs747241045 CA7649488 |
105 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393098395 rs1379794234 |
106 | R>L | No |
ClinGen gnomAD |
|
|
rs1057524788 CA16607015 RCV000429609 |
108 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1347660791 CA393098373 |
109 | G>S | No |
ClinGen gnomAD |
|
|
rs786205801 RCV000170926 CA301947 |
113 | T>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7649483 rs754966337 |
114 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA272700394 rs1029095969 |
114 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223859802 CA393098308 |
116 | G>D | No |
ClinGen gnomAD |
|
|
CA7649482 rs753771827 |
116 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867993830 CA272700379 |
117 | S>I | No |
ClinGen Ensembl |
|
|
CA272700375 rs865801536 |
118 | S>G | No |
ClinGen Ensembl |
|
|
rs1278512599 CA393098271 |
120 | G>E | No |
ClinGen TOPMed |
|
|
rs766202352 CA7649480 |
120 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1238471471 CA393098268 |
121 | H>N | No |
ClinGen gnomAD |
|
|
CA393098260 rs1370522527 |
121 | H>R | No |
ClinGen TOPMed |
|
|
rs1238471471 CA393098265 |
121 | H>Y | No |
ClinGen gnomAD |
|
|
CA7649479 rs760442925 |
124 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA272700367 rs868724266 |
128 | E>D | No |
ClinGen Ensembl |
|
|
CA393098183 rs1386765236 |
129 | R>L | No |
ClinGen gnomAD |
|
|
CA393098121 rs1294780632 |
136 | D>N | No |
ClinGen gnomAD |
|
|
rs761237260 CA7649476 |
139 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA393098008 rs1479658459 |
148 | L>V | No |
ClinGen TOPMed |
|
|
CA272700337 rs915439245 |
150 | A>T | No |
ClinGen TOPMed |
|
|
rs1444209986 CA393097980 |
151 | E>G | No |
ClinGen TOPMed |
|
|
rs1392411769 CA393097973 |
152 | P>S | No |
ClinGen TOPMed |
|
|
rs1449524122 CA393097930 |
157 | A>T | No |
ClinGen TOPMed |
|
|
CA393097919 rs1302896733 |
158 | S>W | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200627448 CA393097897 |
160 | Q>R | No |
ClinGen gnomAD |
|
|
rs1490522995 CA393097892 |
161 | P>T | No |
ClinGen gnomAD |
|
|
COSM6046119 CA393097881 rs1567801801 |
162 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
CA393097857 rs1214785817 |
164 | S>L | No |
ClinGen gnomAD |
|
|
CA272700296 rs865968431 |
168 | P>S | No |
ClinGen Ensembl |
|
|
CA393097811 rs1303993591 |
169 | Q>P | No |
ClinGen gnomAD |
|
|
CA393097802 rs1219333327 |
170 | Q>* | No |
ClinGen gnomAD |
|
|
CA393097787 rs1339319886 |
171 | P>Q | No |
ClinGen gnomAD |
|
|
CA393097781 rs1595837376 |
172 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 174 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393097734 rs1567801731 RCV000711894 |
177 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755045896 CA7649468 |
177 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753829397 CA393097710 |
179 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM416833 | 180 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1016027191 CA272700245 |
183 | S>L | No |
ClinGen TOPMed |
|
|
rs1016027191 CA393097674 |
183 | S>W | No |
ClinGen TOPMed |
|
|
rs751171956 CA7649462 |
187 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7649460 rs762497115 |
188 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393097613 rs1567801651 |
189 | K>N | No |
ClinGen Ensembl |
|
|
CA7649459 rs777285476 |
189 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs786205269 CA393097606 |
190 | V>A | No |
ClinGen gnomAD |
|
|
RCV000171647 rs786205269 CA236707 |
190 | V>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA393097592 rs1219862351 |
192 | G>R | No |
ClinGen gnomAD |
|
|
rs1340757960 CA393097585 |
192 | G>V | No |
ClinGen gnomAD |
|
|
CA7649456 rs773676799 |
194 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272700177 rs1002538728 |
195 | A>T | No |
ClinGen TOPMed |
|
|
rs200186692 CA7649454 |
196 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1055534495 CA272700156 |
199 | Q>E | No |
ClinGen TOPMed |
|
|
rs1055534495 CA393097533 |
199 | Q>K | No |
ClinGen TOPMed |
|
|
CA393097494 rs1423019091 |
202 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393097473 rs1465495839 |
205 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756027439 CA7649450 |
206 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756027439 CA393097456 |
206 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs971709325 CA272700126 |
207 | R>H | No |
ClinGen gnomAD |
|
|
CA7649448 rs756993031 |
209 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs752207061 CA7649444 |
214 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7649445 rs762586116 |
214 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs762586116 CA393097390 |
214 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1053931598 CA272700039 |
215 | Q>* | No |
ClinGen TOPMed |
|
|
rs912161486 CA272700035 |
216 | R>C | No |
ClinGen TOPMed |
|
|
rs1595837249 CA393097340 |
218 | F>V | No |
ClinGen Ensembl |
|
|
rs1192227778 CA393097336 |
218 | F>Y | No |
ClinGen TOPMed |
|
|
rs1445698608 CA393097327 |
219 | G>A | No |
ClinGen gnomAD |
|
|
CA393097329 rs1427997752 |
219 | G>W | No |
ClinGen TOPMed |
|
|
rs1160951266 CA393097308 |
221 | M>I | No |
ClinGen TOPMed |
|
|
CA393097274 rs1447391447 |
224 | P>L | No |
ClinGen gnomAD |
|
|
rs767982466 CA7649440 CA393097272 |
225 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7649439 rs762024289 |
226 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7649437 rs768824090 |
232 | R>M | No |
ClinGen ExAC |
|
|
CA393097205 rs1351390854 |
233 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 235 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207487211 CA393097131 |
240 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393097110 rs1253627105 |
242 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7649432 rs780937713 |
243 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924178450 CA272699946 |
247 | V>I | No |
ClinGen TOPMed |
|
| COSM3887442 | 253 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM964684 | 253 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1374445 | 256 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1457768351 CA393096976 |
257 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs368583153 CA7649428 |
261 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393095489 rs1394945482 |
272 | L>P | No |
ClinGen TOPMed |
|
|
CA7649402 rs752026560 |
274 | V>M | No |
ClinGen ExAC gnomAD |
|
| COSM3503769 | 275 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1366895367 CA393095451 |
278 | I>T | No |
ClinGen TOPMed |
|
|
rs1228622538 CA393095439 |
280 | I>V | No |
ClinGen TOPMed |
|
| COSM3503768 | 281 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393095419 rs1407190225 |
283 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 293 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3503767 | 294 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1216261955 CA393095338 |
294 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1057518303 CA393095303 |
299 | N>T | No |
ClinGen gnomAD |
|
|
CA393095278 rs1263837699 |
303 | D>G | No |
ClinGen gnomAD |
|
|
CA7649398 rs765340523 |
305 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA393095262 rs1272107414 |
305 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1431718785 CA393095245 |
308 | I>V | No |
ClinGen gnomAD |
|
| COSM1937667 | 309 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393095196 rs1340301658 COSM964683 |
315 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs759685985 COSM5644073 CA7649397 |
315 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs764050400 CA7649395 |
318 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776624718 CA7649396 |
318 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM74875 | 321 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1199910423 CA393095138 |
324 | T>A | No |
ClinGen TOPMed |
|
|
CA393095100 rs1472247877 |
329 | D>E | No |
ClinGen gnomAD |
|
|
rs755613616 CA7649386 |
331 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393095076 rs1316189390 |
334 | K>E | No |
ClinGen gnomAD |
|
|
rs1275182704 CA393095070 |
334 | K>N | No |
ClinGen gnomAD |
|
|
CA272684521 rs906382393 |
335 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA272684517 rs868805712 |
338 | L>M | No |
ClinGen Ensembl |
|
|
rs1282790407 CA393095039 |
339 | K>R | No |
ClinGen gnomAD |
|
|
rs759719230 CA7649380 |
343 | M>I | No |
ClinGen ExAC gnomAD |
|
| COSM3887441 | 348 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM701278 | 349 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA272684488 rs1046034940 |
350 | I>M | No |
ClinGen Ensembl |
|
|
rs868682584 CA272684466 |
351 | P>L | No |
ClinGen Ensembl |
|
|
rs893466779 COSM3503765 CA272684471 |
351 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
rs772092664 CA7649375 |
355 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761690270 CA7649374 |
357 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774060688 CA7649373 |
358 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379422735 CA393094885 |
361 | T>I | No |
ClinGen gnomAD |
|
|
CA393094882 rs1209174833 |
362 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs745346676 CA7649368 |
365 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs931473363 CA272684432 |
367 | V>A | No |
ClinGen Ensembl |
|
|
CA393094802 rs1238684043 |
375 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393094798 rs1376080541 |
376 | I>V | No |
ClinGen gnomAD |
|
|
CA393094788 rs1298265570 |
377 | V>A | No |
ClinGen gnomAD |
|
|
CA393094778 rs1304626587 |
379 | F>S | No |
ClinGen gnomAD |
|
| COSM4999111 | 380 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 383 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 384 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393094740 rs1379523562 |
384 | S>R | No |
ClinGen gnomAD |
|
| COSM71027 | 386 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs756293276 COSM4427257 CA7649361 |
387 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA |
|
rs1595829109 CA393094710 |
389 | L>F | No |
ClinGen Ensembl |
|
|
CA393094672 rs750479244 |
396 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM964679 | 396 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1225064073 CA393094631 |
401 | W>* | No |
ClinGen gnomAD |
|
| COSM701279 | 406 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1210099250 CA393094562 COSM337427 |
408 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| COSM265806 | 410 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM964678 | 410 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393094545 rs1264460587 |
411 | L>M | No |
ClinGen gnomAD |
|
|
CA393094533 rs1173370001 |
413 | S>G | No |
ClinGen TOPMed |
|
|
CA393094516 rs1360500444 |
416 | V>L | No |
ClinGen TOPMed |
|
|
rs751462164 CA7649337 |
417 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA272673953 rs981385410 COSM1209365 |
417 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
CA393094506 rs1302034176 |
418 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393094490 rs1595824012 |
420 | N>T | No |
ClinGen Ensembl |
|
|
rs764988693 CA7649333 |
423 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1595824000 CA393094435 |
428 | L>P | No |
ClinGen Ensembl |
|
|
CA7649328 rs555158068 |
435 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769157750 CA7649327 |
439 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA393094355 rs1460379286 |
440 | P>S | No |
ClinGen gnomAD |
|
|
rs749788426 CA7649326 |
441 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1444329166 CA393094325 |
444 | D>V | No |
ClinGen TOPMed |
|
|
rs1229232018 COSM3503764 CA393094300 |
448 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA301962 rs786205805 RCV000170940 |
449 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA393094248 rs1567776968 |
455 | N>D | No |
ClinGen Ensembl |
|
|
CA393094245 rs1198027034 COSM3711742 |
455 | N>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA393094231 rs1567776954 |
457 | V>M | No |
ClinGen Ensembl |
|
|
rs1027435115 CA272672183 |
460 | S>Y | No |
ClinGen TOPMed |
|
|
rs1555475992 RCV000523630 CA393094183 |
461 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7649302 COSM3503763 rs146714274 |
462 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 465 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272672130 rs1025033466 |
471 | K>T | No |
ClinGen TOPMed |
|
|
rs1555475985 CA393093951 RCV000618090 |
479 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1060500103 CA393093928 |
480 | G>A | No |
ClinGen TOPMed |
|
|
rs200337785 CA393093915 |
481 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393093888 rs1595822960 |
484 | Q>E | No |
ClinGen Ensembl |
|
|
rs886042821 CA10604722 RCV000396337 |
488 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771198178 CA7649290 |
489 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA393093825 rs1157049194 |
489 | M>V | No |
ClinGen TOPMed |
|
|
CA7649287 rs772144022 COSM1374441 |
492 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7649286 rs748188673 |
496 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 497 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 497 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330225452 CA393093754 |
498 | S>R | No |
ClinGen TOPMed |
|
| COSM195487 | 501 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393093692 rs1595822917 |
504 | T>P | No |
ClinGen Ensembl |
|
|
rs913845262 CA272672022 |
508 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 509 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430250586 CA393093514 |
516 | L>F | No |
ClinGen gnomAD |
|
|
rs1355499894 CA393093505 |
517 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 521 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM434254 CA393093397 rs1429346819 |
525 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA7649278 rs763669122 COSM275432 |
525 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA393093401 rs1429346819 |
525 | R>S | No |
ClinGen gnomAD |
|
| COSM3503761 | 526 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393093348 rs1193553440 |
528 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 529 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436011282 CA393093322 |
530 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 531 | Y>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 532 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355950041 CA393092163 |
534 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1355950041 CA393092161 |
534 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 537 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768732217 CA7649249 |
539 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7649248 rs762870407 |
541 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393092096 rs1595821124 |
543 | L>P | No |
ClinGen Ensembl |
|
|
CA7649246 rs769565744 |
544 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393092091 rs769565744 |
544 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7649243 rs770841336 |
545 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237064546 CA393092074 |
547 | T>I | No |
ClinGen gnomAD |
|
|
rs1595821102 CA393092077 |
547 | T>P | No |
ClinGen Ensembl |
|
|
CA272668920 rs1014766177 |
548 | R>Q | No |
ClinGen TOPMed |
|
|
rs1005030656 CA272668909 |
550 | R>H | No |
ClinGen TOPMed gnomAD |
|
| COSM6077786 | 553 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4056729 | 553 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 555 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764177769 CA7649233 |
556 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7649231 rs775478779 |
558 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1344349703 CA393091990 |
560 | Q>E | No |
ClinGen gnomAD |
|
|
rs1177922518 CA393091984 |
560 | Q>H | No |
ClinGen TOPMed |
|
|
CA7649229 rs759453165 |
560 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 562 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 565 | D>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4056728 | 565 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6077787 | 566 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs777590499 CA7649226 |
566 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771672613 CA7649225 |
567 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7649224 rs747807457 |
568 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA272668811 rs138714806 |
568 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA272668801 rs879080977 |
570 | L>R | No |
ClinGen Ensembl |
|
|
CA393091913 rs1319182551 |
571 | G>C | No |
ClinGen gnomAD |
|
| COSM3887440 | 572 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs757645485 CA7649220 |
575 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs781612712 CA7649221 |
575 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7649215 rs765250418 |
578 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393091256 rs765250418 |
578 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3420592 | 579 | E>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7649190 rs773185911 COSM1708372 |
580 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA272666478 rs963357522 |
582 | I>V | No |
ClinGen Ensembl |
|
|
CA393091087 rs1595820945 |
585 | N>T | No |
ClinGen Ensembl |
|
|
rs767228162 CA7649189 |
587 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773905639 CA7649187 |
588 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA272666445 rs866653594 |
594 | P>L | No |
ClinGen Ensembl |
|
|
rs1478248582 CA393090923 |
597 | A>V | No |
ClinGen TOPMed |
|
|
rs1004749861 CA272666439 |
598 | N>K | No |
ClinGen gnomAD |
|
|
rs748914461 CA7649185 |
598 | N>S | No |
ClinGen ExAC gnomAD |
|
| COSM1562809 | 600 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1198087007 CA393090869 |
601 | P>L | No |
ClinGen gnomAD |
|
|
CA393090851 rs1471277700 |
603 | F>L | No |
ClinGen TOPMed |
|
|
CA393090831 rs1187682984 |
604 | V>M | No |
ClinGen gnomAD |
|
|
CA272666402 COSM5570200 rs1018484647 |
605 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
| TCGA novel | 606 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483177160 CA393090809 |
607 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7649180 rs758725633 |
607 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM397502 CA7649179 rs748496969 |
612 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs528148663 CA7649178 COSM6142798 COSM1517530 |
612 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs117731813 CA7649177 |
613 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM6077789 | 614 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7649175 rs750331162 |
618 | P>L | No |
ClinGen ExAC gnomAD |
|
| COSM71026 | 618 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1304949652 CA393090718 |
621 | Y>D | No |
ClinGen gnomAD |
|
|
CA7649174 rs767448627 |
622 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7649171 rs763842368 |
624 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393090684 rs1347146822 |
626 | G>D | No |
ClinGen TOPMed |
|
| COSM4056726 | 627 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393090672 rs1224117757 |
628 | I>T | No |
ClinGen TOPMed |
|
|
CA7649169 rs775068417 |
630 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA272666320 rs375986055 |
632 | M>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 633 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563194186 CA393090595 |
639 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544608775 CA7649163 |
645 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7649162 rs780354941 |
646 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756293160 CA7649161 |
648 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1488769594 CA393090537 |
648 | K>T | No |
ClinGen TOPMed |
|
|
rs1193204259 CA393090514 |
651 | K>R | No |
ClinGen TOPMed |
|
|
CA7649159 rs754108543 |
654 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272666205 rs902789199 |
654 | D>N | No |
ClinGen Ensembl |
|
|
rs1309616427 CA393090493 |
655 | G>S | No |
ClinGen gnomAD |
|
|
CA272666169 rs377612051 |
656 | S>T | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 660 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393090432 rs1246516065 |
660 | E>G | No |
ClinGen TOPMed |
|
| COSM964673 | 666 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs781395940 CA7649142 |
666 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 667 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758215684 CA7649138 |
675 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7649136 rs145134839 |
676 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595820506 CA393090264 |
677 | T>P | No |
ClinGen Ensembl |
|
|
CA393090247 rs1449535764 |
678 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| COSM1937637 | 680 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs753421461 CA7649134 |
680 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393090175 rs1161776375 |
685 | S>R | No |
ClinGen TOPMed |
|
|
CA7649131 rs778801845 |
688 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7649128 rs776033369 |
690 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3503759 | 695 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 696 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272665445 rs931375055 |
697 | P>R | No |
ClinGen TOPMed |
|
| COSM964672 | 700 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5637483 | 700 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM964671 | 702 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1374437 | 704 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393089906 rs1359396157 |
706 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 710 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747045796 CA7649123 |
710 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA272665427 rs961219559 |
710 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| COSM1517531 | 712 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs748074312 COSM6142799 COSM1517532 CA7649120 |
713 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs1351890026 CA393089808 |
714 | I>F | No |
ClinGen gnomAD |
|
|
rs1303162203 CA393089689 |
715 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761839180 CA7649084 |
719 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7649083 rs774364558 |
722 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA393089557 rs1321225445 |
725 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 732 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451800789 CA393089461 |
732 | G>V | No |
ClinGen gnomAD |
|
|
rs1156728495 CA393089421 |
736 | Y>C | No |
ClinGen TOPMed |
|
|
rs917722202 CA272665111 |
736 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755502946 CA7649075 |
737 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029680367 CA393089402 |
738 | E>Q | No |
ClinGen TOPMed |
|
|
rs1365771099 CA393089380 |
739 | N>K | No |
ClinGen gnomAD |
|
|
rs766746544 CA7649073 |
740 | E>K | No |
ClinGen ExAC gnomAD |
|
| COSM471038 | 743 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7649072 rs537051969 |
744 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 744 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377029109 CA393089303 |
746 | V>A | No |
ClinGen gnomAD |
|
|
CA393089296 rs1304868429 |
747 | Q>* | No |
ClinGen gnomAD |
|
|
rs750677813 CA7649071 |
748 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs750677813 CA393089278 |
748 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA393089263 rs1391281329 |
750 | R>W | No |
ClinGen TOPMed gnomAD |
|
| COSM3503758 | 751 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7649067 rs768773295 |
752 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393089243 rs1282673833 |
753 | A>T | No |
ClinGen TOPMed |
|
|
CA393089239 rs1480069560 |
753 | A>V | No |
ClinGen gnomAD |
|
|
rs745617328 CA7649064 |
756 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745617328 COSM5039566 CA393089220 |
756 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs746669692 CA7649061 |
757 | H>P | No |
ClinGen ExAC |
|
|
rs770747723 CA7649062 |
757 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7649060 rs777209839 |
758 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62641689 CA272664960 |
759 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393089201 rs1371534260 |
760 | Q>R | No |
ClinGen gnomAD |
|
|
CA393089195 rs1163571002 |
761 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 761 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393089192 rs1163757489 |
761 | A>V | No |
ClinGen TOPMed |
|
|
rs1456839039 CA393089190 |
762 | A>T | No |
ClinGen gnomAD |
|
|
rs375146815 CA393089181 |
763 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
| COSM3969251 | 765 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7649055 rs372090359 |
766 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393089165 rs1333508555 |
766 | T>I | No |
ClinGen TOPMed |
|
|
CA393089153 rs1267908999 |
768 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764093328 CA7649052 |
769 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs764093328 CA393089149 |
769 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7649053 rs751793297 |
769 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763021264 CA7649051 |
770 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 770 | T>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7649048 rs775597851 |
771 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA393089129 rs1351561683 |
773 | I>S | No |
ClinGen gnomAD |
|
|
CA393089124 rs1385607480 |
774 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 774 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323231764 CA393089126 |
774 | W>R | No |
ClinGen gnomAD |
|
| COSM3887439 | 776 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393089083 rs1472674666 |
780 | A>V | No |
ClinGen gnomAD |
|
| COSM116154 | 781 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393089052 rs1268019879 |
785 | A>V | No |
ClinGen gnomAD |
|
|
CA393089041 rs1266308888 |
787 | A>V | No |
ClinGen gnomAD |
|
|
CA393089027 rs1181113092 |
790 | S>P | No |
ClinGen TOPMed |
|
|
rs890033133 CA272664876 |
791 | V>M | No |
ClinGen TOPMed |
|
| COSM3969250 | 793 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA272664854 rs767187346 |
794 | A>T | No |
ClinGen Ensembl |
|
|
rs746365834 CA7649037 |
797 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393088977 rs1326895510 |
798 | H>R | No |
ClinGen TOPMed |
|
|
rs1377973823 CA393088953 |
802 | P>L | No |
ClinGen gnomAD |
|
|
CA7649034 rs751734654 |
803 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7649033 rs764336375 |
803 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1190537259 CA393088948 |
804 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765405043 CA7649031 |
808 | P>L | No |
ClinGen ExAC gnomAD |
|
| COSM701284 | 809 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1228326903 CA393088910 |
810 | P>S | No |
ClinGen gnomAD |
|
|
CA7649030 rs776656247 |
811 | G>E | No |
ClinGen ExAC gnomAD |
|
| COSM964669 | 812 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA272664782 rs918010761 |
815 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393088883 rs918010761 |
815 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA393088882 rs918010761 |
815 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772764779 CA7649026 |
816 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393088865 rs1224948931 |
818 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1427767002 CA393088868 |
818 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs980872364 CA272664775 |
819 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393088850 rs1185775590 |
821 | Q>* | No |
ClinGen gnomAD |
|
|
CA7649024 rs144206811 |
821 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781612647 CA7649021 |
823 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3690523 | 824 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7649020 rs771229078 |
825 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201997521 CA272664726 |
826 | L>P | No |
ClinGen 1000Genomes |
|
|
rs747348560 COSM1374435 CA7649019 |
828 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA393088808 RCV000788204 rs1281853703 |
828 | R>W | No |
ClinGen ClinVar dbSNP gnomAD |
|
| COSM6142800 | 831 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393088783 rs1404692878 |
832 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1595820032 CA393088777 |
833 | I>T | No |
ClinGen Ensembl |
|
|
CA7649015 rs779148704 |
834 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393088774 rs779148704 |
834 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 835 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393088758 rs1482311885 |
837 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761507884 CA7649008 |
840 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7649006 rs771515707 |
843 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1352178394 CA393088716 CA393088715 |
844 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 845 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4900466 | 846 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6077790 | 847 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393088693 rs1325404533 |
848 | Q>* | No |
ClinGen gnomAD |
|
|
CA393088687 rs202138767 |
849 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1471693920 CA393088679 |
850 | D>G | No |
ClinGen gnomAD |
|
|
rs563631302 CA272664617 |
850 | D>N | No |
ClinGen 1000Genomes |
|
|
RCV000498856 CA393088674 rs1555475302 |
851 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 852 | P>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7649000 rs754023918 |
854 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs779963031 CA7648999 |
855 | S>P | No |
ClinGen ExAC gnomAD |
|
| COSM3503757 | 855 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM434253 | 856 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6142801 | 859 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1206447973 CA393088601 |
862 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 863 | A>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767354516 RCV000489847 CA7648996 |
863 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA272664570 rs71442382 |
864 | G>V | No |
ClinGen Ensembl |
|
|
CA393088567 rs1567768679 |
868 | P>S | No |
ClinGen Ensembl |
|
|
rs761259118 CA7648990 |
870 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1395315928 CA393088555 |
871 | L>M | No |
ClinGen gnomAD |
|
| COSM1285324 | 873 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 874 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567768619 CA393088521 |
876 | P>L | No |
ClinGen Ensembl |
|
|
rs1414309985 CA393088524 |
876 | P>S | No |
ClinGen gnomAD |
|
|
rs1193496092 CA393088505 |
879 | S>N | No |
ClinGen gnomAD |
|
|
rs769042435 CA7648984 |
879 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1193496092 RCV000622070 CA393088504 |
879 | S>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs749513545 CA7648983 |
881 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA393088484 rs780235330 |
883 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272664429 rs745819208 |
884 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745819208 CA7648981 |
884 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272664390 rs200575377 |
886 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7648977 rs758105507 |
887 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA393088456 rs1297004740 |
888 | G>D | No |
ClinGen gnomAD |
|
|
CA7648976 rs752235823 |
889 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758929649 CA393088448 |
890 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7648973 rs768190354 |
891 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334139790 CA393088432 |
893 | P>L | No |
ClinGen TOPMed |
|
|
rs1435913646 CA393088434 |
893 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1390142178 CA393088427 |
894 | T>K | No |
ClinGen gnomAD |
|
|
rs1482036778 CA393088354 |
901 | A>G | No |
ClinGen gnomAD |
|
|
CA393088348 rs1211283269 |
902 | T>A | No |
ClinGen gnomAD |
|
|
rs1231834348 CA393088341 |
902 | T>I | No |
ClinGen gnomAD |
|
|
CA272664354 rs987812425 |
905 | A>V | No |
ClinGen TOPMed |
|
|
rs1230507068 CA393088302 |
906 | G>A | No |
ClinGen gnomAD |
|
|
CA393088281 rs1221447713 |
908 | G>R | No |
ClinGen gnomAD |
|
|
rs777560053 CA7648962 |
913 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393088215 rs1415832167 |
914 | L>V | No |
ClinGen gnomAD |
|
|
rs1306789664 CA393088200 |
915 | G>D | No |
ClinGen gnomAD |
|
|
CA393088203 rs1370321950 |
915 | G>R | No |
ClinGen gnomAD |
|
|
rs1595819830 CA393088195 |
916 | G>S | No |
ClinGen Ensembl |
|
|
rs867341538 CA272664298 |
916 | G>V | No |
ClinGen TOPMed |
|
|
CA7648961 rs752426600 |
919 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1595819822 CA393088093 |
923 | S>F | No |
ClinGen Ensembl |
|
|
CA393088106 rs1241195017 |
923 | S>T | No |
ClinGen gnomAD |
|
|
CA393088090 rs1354582644 |
924 | P>S | No |
ClinGen TOPMed |
|
|
rs375712962 CA7648959 |
925 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393088048 rs1595819811 |
927 | T>P | No |
ClinGen Ensembl |
|
|
rs1277827477 RCV000621851 |
928 | P>missing | No |
ClinVar dbSNP |
|
|
CA7648955 rs753331607 |
929 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480886186 CA393087963 |
932 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV000223866 rs762464413 CA10581185 |
933 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA393087942 rs1319976068 |
933 | A>V | No |
ClinGen gnomAD |
|
|
rs369485237 CA393087934 |
934 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769959023 CA393087908 |
936 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393087416 rs1293424614 |
941 | P>S | No |
ClinGen gnomAD |
|
|
CA7648947 rs777648103 |
944 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393087342 rs1207971398 |
947 | G>A | No |
ClinGen gnomAD |
|
|
rs753524680 CA393087347 |
947 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779720834 CA7648941 |
948 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272664120 rs752139441 |
949 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286879031 CA393087321 |
950 | G>R | No |
ClinGen gnomAD |
|
| COSM1478339 | 951 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA393087256 rs1336705234 |
954 | L>F | No |
ClinGen gnomAD |
|
|
CA393087235 rs371562763 |
955 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7648938 rs764646543 |
955 | P>S | No |
ClinGen ExAC |
|
|
CA393087209 rs1372545010 |
956 | E>D | No |
ClinGen gnomAD |
|
|
rs1595819727 CA393087197 |
957 | H>P | No |
ClinGen Ensembl |
|
|
rs1555475219 CA393087179 RCV000619216 |
958 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1595819718 CA393087168 |
958 | F>S | No |
ClinGen Ensembl |
|
|
CA393087137 rs1186449973 |
960 | P>S | No |
ClinGen TOPMed |
|
|
rs1385946542 CA393087120 |
961 | P>S | No |
ClinGen gnomAD |
|
|
CA393087101 rs1454168379 |
962 | P>S | No |
ClinGen gnomAD |
|
|
CA393087086 rs1260181519 |
963 | P>S | No |
ClinGen TOPMed |
|
|
rs1595819699 CA393087064 |
964 | S>L | No |
ClinGen Ensembl |
|
|
CA393087023 rs1595819693 |
967 | S>P | No |
ClinGen Ensembl |
|
|
CA7648931 rs548194804 |
968 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759692338 CA7648932 |
968 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255706431 CA393086960 |
970 | S>F | No |
ClinGen gnomAD |
|
|
rs1231727151 CA393086951 |
971 | S>N | No |
ClinGen gnomAD |
|
|
CA7648923 rs748948400 |
973 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1382370606 CA393086848 |
977 | Q>* | No |
ClinGen gnomAD |
|
|
rs1395656450 CA393086776 |
981 | E>K | No |
ClinGen gnomAD |
|
|
CA7648917 rs753233857 |
983 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7648915 rs755329686 |
990 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA393086637 rs755329686 |
990 | P>R | No |
ClinGen ExAC gnomAD |
|
| COSM398017 | 991 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs988840779 CA272663993 |
991 | L>P | No |
ClinGen gnomAD |
|
|
rs754083717 CA7648914 |
992 | S>I | No |
ClinGen ExAC gnomAD |
|
| COSM1129122 | 993 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA272663982 rs375788137 |
997 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7648911 rs767626058 |
997 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761666368 CA7648910 |
998 | P>A | No |
ClinGen ExAC gnomAD |
|
| COSM1374433 | 998 | P>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs774274351 CA7648909 |
998 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1307416160 CA393086517 |
999 | R>Q | No |
ClinGen gnomAD |
|
|
CA393086506 rs1417479645 |
1000 | Q>K | No |
ClinGen gnomAD |
|
|
CA272663955 rs12591469 |
1001 | P>H | No |
ClinGen Ensembl |
|
|
rs1486893598 CA393086455 |
1004 | P>L | No |
ClinGen gnomAD |
|
|
CA393086446 rs780624939 |
1005 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA393086436 rs1351588410 |
1006 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1006 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272663938 rs866060091 |
1007 | V>L | No |
ClinGen Ensembl |
|
|
rs1274538157 CA393086415 |
1008 | A>V | No |
ClinGen gnomAD |
|
|
rs756721507 CA7648902 |
1009 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7648901 rs748634893 |
1010 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7648897 rs756390842 |
1012 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7648899 rs766728086 |
1012 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7648898 rs766728086 |
1012 | G>W | No |
ClinGen ExAC gnomAD |
|
| COSM3887438 | 1013 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4747471 | 1014 | A>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7648895 RCV002444030 rs750605160 |
1015 | S>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA393086350 rs750605160 |
1015 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393086341 rs761909019 |
1016 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7648893 rs761909019 |
1016 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA272663851 rs560832180 |
1017 | V>E | No |
ClinGen 1000Genomes |
|
|
CA393086337 rs1476274605 |
1017 | V>I | No |
ClinGen gnomAD |
|
|
CA272663837 rs900865428 |
1021 | P>T | No |
ClinGen TOPMed |
|
|
CA393086285 rs1205818947 |
1022 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1041239710 CA272663833 |
1024 | G>R | No |
ClinGen TOPMed |
|
|
rs1041239710 CA393086276 |
1024 | G>S | No |
ClinGen TOPMed |
|
|
CA7648888 rs769698890 |
1025 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs886039118 CA10587881 RCV000248861 |
1026 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776308154 CA272663752 |
1027 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7648886 rs776308154 |
1027 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1375231724 CA393086255 |
1028 | P>A | No |
ClinGen gnomAD |
|
|
rs1375231724 CA393086256 |
1028 | P>T | No |
ClinGen gnomAD |
|
|
rs1330608554 CA393086230 |
1031 | S>R | No |
ClinGen gnomAD |
|
|
CA393086224 rs1463237931 |
1032 | P>L | No |
ClinGen gnomAD |
|
|
rs770370442 CA7648885 |
1032 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA393086220 rs1441737579 |
1033 | G>D | No |
ClinGen TOPMed |
|
|
CA7648883 rs777117707 |
1035 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477955790 CA393086207 |
1036 | R>G | No |
ClinGen gnomAD |
|
|
CA393086188 rs1250625107 |
1038 | F>L | No |
ClinGen gnomAD |
|
|
RCV000728734 rs572132730 CA393086182 |
1039 | P>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA393086176 rs1215858461 |
1040 | S>I | No |
ClinGen TOPMed |
|
|
CA7648880 rs780413757 |
1041 | A>T | No |
ClinGen ExAC |
|
|
rs1383129906 CA393086169 |
1041 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1335450749 CA393086162 |
1043 | P>T | No |
ClinGen gnomAD |
|
|
rs781424229 CA7648878 |
1045 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1052 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169782947 CA393086102 |
1053 | L>F | No |
ClinGen TOPMed |
|
|
CA393086093 rs1371747083 |
1055 | P>S | No |
ClinGen gnomAD |
|
|
CA272663675 rs1022382647 |
1056 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393086079 rs1428883512 |
1057 | A>V | No |
ClinGen gnomAD |
|
|
CA7648875 rs764262532 |
1060 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393086060 rs764262532 |
1060 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272663662 rs764262532 |
1060 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010963303 CA272663655 |
1061 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1183768117 CA393086057 |
1061 | P>S | No |
ClinGen gnomAD |
|
|
CA393086050 rs1454341107 |
1062 | P>L | No |
ClinGen gnomAD |
|
|
CA393086040 rs1282060215 |
1064 | Q>P | No |
ClinGen TOPMed |
|
|
rs1255115138 CA393086022 |
1067 | Q>P | No |
ClinGen TOPMed |
|
|
CA7648872 rs759356193 COSM3690521 |
1068 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA393086015 rs776270218 |
1068 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760242560 CA7648869 |
1069 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771516698 CA7648867 |
1072 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs982016034 CA272663565 |
1073 | P>R | No |
ClinGen TOPMed |
|
|
rs780495317 CA7648863 |
1075 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA272663542 rs1008742590 |
1075 | T>I | No |
ClinGen TOPMed |
|
|
rs780495317 CA272663548 |
1075 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA393085979 rs1435873081 |
1076 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393085977 rs1435873081 |
1076 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1315353481 CA393085980 |
1076 | P>T | No |
ClinGen gnomAD |
|
|
CA393085946 rs1180862764 |
1082 | D>Y | No |
ClinGen gnomAD |
|
|
CA393085936 rs1474106451 |
1083 | L>F | No |
ClinGen gnomAD |
|
|
rs751716200 CA7648858 |
1084 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7648857 rs778012439 |
1085 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA393085924 rs778012439 |
1085 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1202559784 CA393085897 |
1087 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1087 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295481719 CA393085844 |
1091 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1091 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415986674 CA393085832 |
1092 | A>S | No |
ClinGen gnomAD |
|
|
rs1354550200 CA393085765 |
1097 | G>E | No |
ClinGen gnomAD |
|
|
rs753734843 CA7648854 |
1097 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA393085733 rs1441417473 |
1099 | Q>H | No |
ClinGen gnomAD |
|
|
CA393085720 rs1595819312 |
1100 | T>S | No |
ClinGen Ensembl |
|
|
rs771606277 CA7648848 |
1104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA393085657 rs1251958630 |
1105 | S>Y | No |
ClinGen gnomAD |
|
|
rs940405280 CA272663408 |
1106 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761260529 CA7648846 |
1107 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs761260529 CA393085632 |
1107 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1384783760 CA393085637 |
1107 | H>Y | No |
ClinGen gnomAD |
|
|
rs1234312215 CA393085614 |
1108 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393085551 rs1305501521 |
1113 | M>T | No |
ClinGen gnomAD |
|
|
CA7648845 rs373344096 |
1114 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746355698 CA7648844 |
1115 | A>S | No |
ClinGen ExAC |
|
|
CA393085521 rs1373502803 |
1115 | A>V | No |
ClinGen gnomAD |
|
|
CA393085493 rs1361777969 |
1119 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1120 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393085474 rs1161282359 |
1122 | A>T | No |
ClinGen gnomAD |
|
|
rs1419584033 CA393085469 |
1122 | A>V | No |
ClinGen gnomAD |
|
|
rs1193125461 CA393085462 |
1124 | G>S | No |
ClinGen TOPMed gnomAD |
|
| rs1255143771 | 1124 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs981056449 CA393085458 |
1124 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7648841 rs778092273 |
1125 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA393085449 rs1350497259 |
1126 | S>N | No |
ClinGen gnomAD |
|
|
CA393085445 rs758673317 |
1126 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs727503957 CA393085437 |
1128 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1249032163 CA393085418 |
1131 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1249032163 CA393085417 |
1131 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1133 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272663283 rs938783937 |
1134 | G>S | No |
ClinGen Ensembl |
|
|
CA7648833 rs750094370 |
1135 | L>F | No |
ClinGen ExAC |
|
|
rs761421530 CA393085391 |
1136 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773914774 CA272663259 |
1137 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760100398 CA393085380 COSM367676 |
1138 | P>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7648827 rs760100398 |
1138 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1140 | R>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7648825 rs565122032 |
1141 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1567766675 CA393085355 |
1142 | Y>C | No |
ClinGen Ensembl |
|
|
CA393085335 rs1260136245 |
1144 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1145 | I>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393085312 rs1207292841 |
1146 | P>L | No |
ClinGen gnomAD |
|
|
rs1567766661 COSM3722008 CA393085317 |
1146 | P>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs747427482 CA7648823 |
1147 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1148 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398249882 CA393085292 |
1148 | Q>R | No |
ClinGen TOPMed |
|
|
rs1349502142 CA393085284 |
1149 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393085254 rs1295231868 |
1152 | L>V | No |
ClinGen gnomAD |
|
|
CA393085244 rs1324284074 |
1153 | P>S | No |
ClinGen gnomAD |
|
|
CA393085236 rs200896834 |
1154 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM964665 rs200896834 CA7648820 |
1154 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1155 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393085215 rs1374555266 |
1156 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393085208 rs1301468837 |
1156 | T>I | No |
ClinGen gnomAD |
|
|
CA393085206 rs1263746513 |
1157 | S>T | No |
ClinGen TOPMed |
|
|
CA393085183 rs1377407381 |
1159 | G>C | No |
ClinGen gnomAD |
|
|
CA7648819 rs754950186 |
1159 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA272663151 rs756052150 |
1163 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779811451 CA393085141 |
1163 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| COSM1374432 | 1164 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs750255859 CA393085133 |
1164 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393085121 rs1209424601 |
1165 | L>P | No |
ClinGen gnomAD |
|
|
CA7648813 rs756960444 CA7648812 |
1167 | L>F | No |
ClinGen ExAC |
|
|
rs767293887 CA7648814 |
1167 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1167 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461994562 CA393085082 |
1168 | F>L | No |
ClinGen TOPMed |
|
|
rs1393815632 CA393085070 |
1169 | G>A | No |
ClinGen TOPMed |
|
|
rs1393815632 CA393085069 |
1169 | G>V | No |
ClinGen TOPMed |
|
|
COSM1708368 rs1336819187 CA393085066 |
1170 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 1172 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393085003 rs1423802153 |
1176 | G>A | No |
ClinGen Ensembl |
|
|
CA7648810 rs141662311 |
1177 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1354805701 CA393084978 |
1178 | P>A | No |
ClinGen TOPMed |
|
|
COSM1374431 COSM1937621 rs749503920 |
1179 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs773772247 CA7648805 |
1182 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs773772247 CA393084929 COSM964664 |
1182 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA393084916 rs1394340413 |
1182 | A>V | No |
ClinGen gnomAD |
|
|
CA393084912 rs1169933669 |
1183 | G>R | No |
ClinGen gnomAD |
|
|
rs574545915 CA272663044 |
1184 | P>T | No |
ClinGen Ensembl |
|
|
CA393084855 rs1417654495 |
1186 | R>K | No |
ClinGen gnomAD |
|
|
CA393084800 rs1476366158 |
1189 | G>E | No |
ClinGen gnomAD |
|
|
rs1186212817 CA393084804 |
1189 | G>W | No |
ClinGen gnomAD |
|
|
CA393084764 rs1435640354 |
1191 | R>S | No |
ClinGen gnomAD |
|
|
rs1309346040 CA393084772 |
1191 | R>T | No |
ClinGen TOPMed |
|
|
rs748390014 CA7648803 |
1192 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7648801 rs200507617 |
1193 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393084740 rs1270839065 |
1193 | E>G | No |
ClinGen gnomAD |
|
|
CA7648800 rs147982868 |
1194 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7648798 rs143431889 |
1195 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7648795 rs777242276 |
1197 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7648796 rs777242276 |
1197 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA393084652 rs1485671664 |
1198 | K>N | No |
ClinGen TOPMed |
|
|
CA7648794 rs758039194 |
1199 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs542636933 CA7648792 |
1200 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs542636933 CA7648793 |
1200 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393084614 rs1364108972 |
1201 | S>F | No |
ClinGen Ensembl |
|
| COSM4932105 | 1201 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
3 associated diseases with Q9Y3Q4
[MIM: 163800]: Sick sinus syndrome 2 (SSS2)
The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613123]: Brugada syndrome 8 (BRGDA8)
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. . Note=The gene represented in this entry may be involved in disease pathogenesis.
[MIM: 619521]: Epilepsy, idiopathic generalized 18 (EIG18)
An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG18 is characterized by onset of myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. . Note=The gene represented in this entry may be involved in disease pathogenesis.
- An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG18 is characterized by onset of myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
10 regional properties for Q9Y3Q4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 538 - 729 | IPR000219 |
| domain | FERM domain | 44 - 324 | IPR000299 |
| domain | Pleckstrin homology domain | 758 - 857 | IPR001849-1 |
| domain | Pleckstrin homology domain | 930 - 1029 | IPR001849-2 |
| domain | FERM adjacent | 332 - 378 | IPR014847 |
| domain | FERM, N-terminal | 48 - 110 | IPR018979 |
| conserved_site | FERM conserved site | 98 - 127 | IPR019747 |
| domain | FERM central domain | 129 - 234 | IPR019748 |
| domain | Band 4.1 domain | 40 - 234 | IPR019749 |
| domain | FARP1/FARP2/FRMD7, FERM domain C-lobe | 221 - 341 | IPR041788 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR45689 | I[[H]] CHANNEL, ISOFORM E |
| PANTHER Subfamily | PTHR45689:SF4 | POTASSIUM_SODIUM HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED CHANNEL 4 |
| PANTHER Protein Class |
ion channel
transporter |
|
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| HCN channel complex | A cation ion channel with a preference for K+ over Na+ ions, which is activated by membrane hyperpolarization, and consists of a tetramer of HCN family members. Some members of this family (HCN1, HCN2 and HCN4) are also activated when cAMP binds to their cyclic nucleotide binding domain (CNBD). Channel complexes of this family play an important role in the control of pacemaker activity in the heart. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cAMP binding | Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate). |
| identical protein binding | Binding to an identical protein or proteins. |
| intracellular cAMP-activated cation channel activity | Enables the transmembrane transfer of a cation by a channel that opens when intracellular cAMP has been bound by the channel complex or one of its constituent parts. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated potassium channel activity involved in SA node cell action potential depolarization | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an SA node cardiac muscle cell contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| blood circulation | The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. |
| cellular response to cAMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| cellular response to cGMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cGMP (cyclic GMP, guanosine 3',5'-cyclophosphate) stimulus. |
| membrane depolarization during cardiac muscle cell action potential | The process in which cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| membrane depolarization during SA node cell action potential | The process in which SA node cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| monoatomic cation transport | The directed movement of a monoatomic cation, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic cations (also called simple cations) are positively charged ions consisting of exactly one atom. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| regulation of cardiac muscle cell action potential involved in regulation of contraction | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a cardiac muscle cell contributing to the regulation of its contraction. |
| regulation of cardiac muscle contraction | Any process that modulates the frequency, rate or extent of cardiac muscle contraction. |
| regulation of cation channel activity | Any process that modulates the frequency, rate or extent of cation channel activity. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of heart rate by cardiac conduction | A cardiac conduction process that modulates the frequency or rate of heart contraction. |
| regulation of membrane depolarization | Any process that modulates the rate, frequency or extent of membrane depolarization. Membrane depolarization is the process in which membrane potential changes in the depolarizing direction from the resting potential, usually from negative to positive. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| regulation of SA node cell action potential | Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an SA node cardiac myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
| SA node cell action potential | An action potential that occurs in a sinoatrial node cardiac muscle cell. |
| sinoatrial node development | The process whose specific outcome is the progression of the sinoatrial (SA) node over time, from its formation to the mature structure. The SA node is part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node. |
| sodium ion import across plasma membrane | The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
18 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O60741 | HCN1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Homo sapiens (Human) | SS |
| Q9P1Z3 | HCN3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Homo sapiens (Human) | SS |
| Q9UL51 | HCN2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Homo sapiens (Human) | SS |
| O88704 | Hcn1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Mus musculus (Mouse) | SS |
| O88705 | Hcn3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Mus musculus (Mouse) | SS |
| O88703 | Hcn2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Mus musculus (Mouse) | EV |
| O70507 | Hcn4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Mus musculus (Mouse) | SS |
| Q9JKA9 | Hcn2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Rattus norvegicus (Rat) | SS |
| Q9JKB0 | Hcn1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Rattus norvegicus (Rat) | SS |
| Q9JKA8 | Hcn3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Rattus norvegicus (Rat) | SS |
| Q9JKA7 | Hcn4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Rattus norvegicus (Rat) | SS |
| Q6K3T2 | Os02g0245800 | Potassium channel KAT1 | Oryza sativa subsp japonica (Rice) | PR |
| A2ZX97 | Os01g0718700 | Potassium channel KAT6 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SKD7 | CNGC3 | Probable cyclic nucleotide-gated ion channel 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDR2 | CNGC19 | Putative cyclic nucleotide-gated ion channel 19 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SU64 | CNGC16 | Probable cyclic nucleotide-gated ion channel 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P92960 | ATHB-4 | Potassium channel KAT3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39128 | KAT1 | Potassium channel KAT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDKLPPSMRK | RLYSLPQQVG | AKAWIMDEEE | DAEEEGAGGR | QDPSRRSIRL | RPLPSPSPSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AAGGTESRSS | ALGAADSEGP | ARGAGKSSTN | GDCRRFRGSL | ASLGSRGGGS | GGTGSGSSHG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HLHDSAEERR | LIAEGDASPG | EDRTPPGLAA | EPERPGASAQ | PAASPPPPQQ | PPQPASASCE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QPSVDTAIKV | EGGAAAGDQI | LPEAEVRLGQ | AGFMQRQFGA | MLQPGVNKFS | LRMFGSQKAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EREQERVKSA | GFWIIHPYSD | FRFYWDLTML | LLMVGNLIII | PVGITFFKDE | NTTPWIVFNV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VSDTFFLIDL | VLNFRTGIVV | EDNTEIILDP | QRIKMKYLKS | WFMVDFISSI | PVDYIFLIVE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TRIDSEVYKT | ARALRIVRFT | KILSLLRLLR | LSRLIRYIHQ | WEEIFHMTYD | LASAVVRIVN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LIGMMLLLCH | WDGCLQFLVP | MLQDFPDDCW | VSINNMVNNS | WGKQYSYALF | KAMSHMLCIG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YGRQAPVGMS | DVWLTMLSMI | VGATCYAMFI | GHATALIQSL | DSSRRQYQEK | YKQVEQYMSF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HKLPPDTRQR | IHDYYEHRYQ | GKMFDEESIL | GELSEPLREE | IINFNCRKLV | ASMPLFANAD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PNFVTSMLTK | LRFEVFQPGD | YIIREGTIGK | KMYFIQHGVV | SVLTKGNKET | KLADGSYFGE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ICLLTRGRRT | ASVRADTYCR | LYSLSVDNFN | EVLEEYPMMR | RAFETVALDR | LDRIGKKNSI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LLHKVQHDLN | SGVFNYQENE | IIQQIVQHDR | EMAHCAHRVQ | AAASATPTPT | PVIWTPLIQA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PLQAAAATTS | VAIALTHHPR | LPAAIFRPPP | GSGLGNLGAG | QTPRHLKRLQ | SLIPSALGSA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SPASSPSQVD | TPSSSSFHIQ | QLAGFSAPAG | LSPLLPSSSS | SPPPGACGSP | SAPTPSAGVA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ATTIAGFGHF | HKALGGSLSS | SDSPLLTPLQ | PGARSPQAAQ | PSPAPPGARG | GLGLPEHFLP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PPPSSRSPSS | SPGQLGQPPG | ELSLGLATGP | LSTPETPPRQ | PEPPSLVAGA | SGGASPVGFT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PRGGLSPPGH | SPGPPRTFPS | APPRASGSHG | SLLLPPASSP | PPPQVPQRRG | TPPLTPGRLT |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| QDLKLISASQ | PALPQDGAQT | LRRASPHSSG | ESMAAFPLFP | RAGGGSGGSG | SSGGLGPPGR |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PYGAIPGQHV | TLPRKTSSGS | LPPPLSLFGA | RATSSGGPPL | TAGPQREPGA | RPEPVRSKLP |
| SNL |