O43525
PR
Gene name |
KCNQ3 |
Protein name |
Potassium voltage-gated channel subfamily KQT member 3 |
Names |
KQT-like 3, Potassium channel subunit alpha KvLQT3, Voltage-gated potassium channel subunit Kv7.3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3786 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O43525
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5J03 | X-ray | 200 A | A | 354-409 | PDB |
| AF-O43525-F1 | Predicted | AlphaFoldDB |
745 variants for O43525
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs796052683 RCV002913130 |
5 | A>T | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1822534206 RCV001042915 |
11 | A>V | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806133 RCV001354323 CA315580 RCV000187961 rs796052672 |
12 | A>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs981093917 RCV001321444 |
14 | G>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs981093917 RCV000647883 RCV002334173 |
16 | G>missing | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322178 rs1281937576 RCV001586123 |
17 | D>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1376853632 RCV000690419 |
17 | D>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA372292998 rs1355500787 RCV000647882 |
17 | D>N | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774616642 RCV000188006 RCV002317117 RCV001059865 |
19 | G>missing | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044522 rs1174348338 |
20 | G>* | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1822526871 RCV001039910 |
21 | G>R | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748459358 RCV001347911 |
22 | G>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061835 rs748459358 RCV000188007 |
22 | G>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002499304 CA372292950 rs1280461599 RCV002312424 |
25 | A>T | Seizures, benign familial neonatal, 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA372292913 rs1433483426 RCV002466642 RCV001227483 |
31 | G>R | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs761196042 RCV001036330 CA4881027 |
33 | A>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1822523749 RCV001293850 |
35 | A>missing | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757208144 RCV001066957 |
36 | A>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001349583 rs1477607835 CA372292869 |
38 | D>E | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1822522895 RCV001344130 |
39 | E>G | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799577 rs1448580874 CA372292867 |
39 | E>Q | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000703566 rs746906634 |
39 | E>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000339411 rs886062693 CA10627069 RCV000300904 |
49 | D>N | Seizures, benign familial neonatal, 2 Benign Neonatal Epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1405186695 RCV001034787 |
51 | E>D | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10624807 rs886062692 RCV000406790 RCV000334828 |
57 | L>P | Benign Neonatal Epilepsy Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1822520136 RCV001231303 |
58 | G>E | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA372292740 rs1283325203 RCV001211618 |
60 | G>R | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001593018 CA4880997 RCV000822042 rs759310149 |
72 | G>S | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA372292656 RCV001236358 rs1163071564 |
74 | R>H | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000647892 RCV002317112 rs138254004 CA4880994 CA315582 RCV000187962 |
75 | D>E | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs781753428 CA372292595 RCV001313926 |
84 | G>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001257258 rs969479579 |
85 | I>L | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793918 rs752131052 CA4880986 |
87 | L>F | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200519334 CA4880982 RCV002559552 RCV001162577 |
94 | S>R | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001256083 CA4880981 RCV002527131 rs143194379 RCV000497536 |
98 | K>R | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000824286 RCV001160995 rs1299548932 CA372292417 |
113 | D>N | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1822515868 RCV001299832 |
118 | P>L | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235517 rs1822515624 |
120 | G>C | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304439 rs371579261 |
124 | L>V | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057525 rs1416256789 CA372292343 |
125 | Y>H | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001197333 rs1826949712 |
135 | G>R | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1826949634 RCV001344255 |
135 | G>V | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4880927 RCV001346213 rs367706720 |
138 | I>T | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs767730041 RCV001225073 CA186224619 |
141 | V>I | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs974274243 CA186224617 RCV000702461 |
150 | T>N | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1826890238 RCV001040747 |
164 | I>V | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1826889658 RCV001340031 |
170 | E>K | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1826887156 RCV001340786 |
189 | G>D | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA315587 RCV002516995 RCV001852467 RCV000187965 COSM204287 rs796052674 |
190 | R>Q | large_intestine Inborn genetic diseases Benign neonatal seizures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000647886 CA372291004 rs1554628237 |
203 | I>T | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs370369681 CA4880874 RCV001314128 |
203 | I>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA372290939 rs1563791055 RCV000705767 |
214 | A>T | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070169 rs1826713982 |
219 | G>V | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225359 RCV000187966 rs796052675 CA315589 |
227 | R>* | Variant assessed as Somatic; 4.634e-05 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001253121 RCV001879865 rs1826712021 RCV003148958 |
227 | R>Q | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003223394 RCV000824686 rs796052676 RCV000187968 RCV000210407 RCV000824975 RCV001263326 RCV002273976 RCV001042557 RCV001257743 RCV001249311 CA315593 |
230 | R>C | Intellectual disability Seizures, benign familial neonatal, 2 Seizures, benign familial infantile, 5 KCNQ3-related developmental disability Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796052676 RCV001257730 |
230 | R>S | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1096209 RCV001341609 rs1180768843 CA372290804 |
236 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium Benign neonatal seizures [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs750016305 RCV001326722 |
236 | R>H | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1826708929 RCV001202414 RCV001509348 |
242 | R>Q | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1826707798 RCV001066633 |
253 | A>G | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1826707510 RCV001206982 |
257 | H>Y | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053331 rs1479652323 RCV000596752 CA372290610 COSM204281 |
263 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine Benign neonatal seizures [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1586801275 CA372290483 RCV000820822 |
283 | E>K | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246680 rs1586801275 |
283 | E>Q | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1826520634 RCV001160992 |
283 | E>V | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4880827 rs549372035 RCV001239424 |
286 | V>F | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs549372035 CA315597 RCV000187970 RCV000647889 |
286 | V>I | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000456805 rs531151809 CA16612208 |
287 | P>L | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001242469 rs1064795142 |
293 | G>V | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342039 RCV000678049 rs118192247 |
299 | E>K | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001295310 rs1554627439 |
300 | F>C | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000585872 CA372290365 rs1554627439 |
300 | F>S | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000678050 RCV002281712 VAR_026994 rs118192248 CA342041 |
305 | D>G | Seizures, benign familial neonatal, 2 BFNS2; reduces the maximal heteromeric current by 40% with no alteration in voltage dependence of activation or deactivation kinetics [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs118192248 RCV000693184 CA372290330 |
305 | D>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA372290327 rs1586801127 RCV000816648 |
306 | A>T | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA315599 rs796052678 RCV001852468 RCV000187971 |
306 | A>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16618600 rs1064794632 RCV001814160 RCV000480153 |
308 | W>S | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_010935 rs118192249 RCV000020601 CA342042 |
309 | W>R | Seizures, benign familial neonatal, 2 BFNS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs118192250 VAR_001546 CA340677 RCV000007816 |
310 | G>V | Seizures, benign familial neonatal, 2 BFNS2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001295062 rs1826477775 |
316 | T>N | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1586800133 CA372290246 RCV000818357 RCV000853346 |
317 | I>T | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000513519 CA372290232 RCV001857856 rs1554627218 |
319 | Y>C | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1563787894 RCV002317923 RCV000699795 CA372290225 |
320 | G>E | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001300028 rs1826477076 |
322 | K>Q | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211125 rs1826476981 |
324 | P>A | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118192251 RCV000462450 CA342043 RCV000020602 |
330 | R>C | Seizures, benign familial neonatal, 2 Variant assessed as Somatic; impact. Benign neonatal seizures [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002069564 COSM1454920 RCV001056634 rs1162306056 CA372290153 RCV001814261 |
330 | R>H | Seizures, benign familial neonatal, 2 Variant assessed as Somatic; 0.0 impact. large_intestine Benign neonatal seizures [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000656020 RCV001266170 rs1381851622 CA372290135 RCV001062660 |
334 | A>T | Variant assessed as Somatic; 6.491e-05 impact. Childhood epilepsy with centrotemporal spikes Inborn genetic diseases Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_078681 | 340 | G>V | BFNS2; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001347573 CA315601 rs796052679 RCV000187972 |
348 | A>V | Variant assessed as Somatic; impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1554627019 RCV000647885 CA372289962 |
360 | Q>* | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813464 rs1459374430 CA372289929 |
364 | R>C | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001291726 rs1204519015 RCV001565213 RCV001203500 CA372289928 |
364 | R>H | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1826414946 RCV001314478 |
367 | H>N | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554626549 RCV000656019 CA372289792 RCV001814169 |
381 | A>V | Seizures, benign familial neonatal, 2 Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000765991 RCV000691630 CA186222956 rs201814804 RCV002263935 |
393 | I>T | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000544083 rs943073757 CA372289667 RCV001329910 |
400 | R>K | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs142445773 RCV001235684 CA186222954 COSM107003 |
403 | E>K | skin Benign neonatal seizures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA315605 RCV001705018 RCV002317113 RCV001159605 rs144474368 RCV000647893 |
406 | V>I | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041672 rs1826288852 |
407 | S>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000725748 rs149272208 CA315607 RCV000477245 RCV000765990 |
409 | P>R | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000117352 RCV000678046 rs2303995 CA288943 RCV002311520 VAR_053859 RCV000326256 RCV000266513 |
414 | E>G | Seizures, benign familial neonatal, 2 Benign Neonatal Epilepsy Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA658657825 RCV000765989 rs1554625699 RCV000519627 RCV001853644 |
417 | E>M | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001760380 rs1825289329 RCV001314490 |
427 | L>S | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193920887 COSM1179949 CA174367 RCV000149105 |
449 | N>I | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1338855011 RCV001057681 CA372220106 |
455 | E>Q | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001705017 RCV000476683 RCV001252270 CA315574 rs143664009 |
464 | V>A | Intellectual disability Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001067258 CA4880710 rs754462752 RCV001217214 |
468 | N>K | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
VAR_026995 RCV000723919 RCV000678047 CA239258 rs118192252 RCV001081148 RCV002390116 |
468 | N>S | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures has no statistically significant effect on the current or biophysical properties of the heteromeric channel [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1198584017 RCV001058554 |
471 | R>P | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA185432823 RCV001346484 rs138181943 |
473 | R>H | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001159603 CA315609 RCV000187976 RCV001069993 rs757583944 |
474 | T>M | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM204276 rs141821338 CA372219872 RCV000647884 |
477 | R>H | large_intestine Variant assessed as Somatic; impact. Benign neonatal seizures [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA dbSNP gnomAD |
|
CA10605128 RCV000280257 rs886043116 RCV002518969 |
486 | S>R | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs753920912 RCV000815420 CA4880682 |
491 | G>E | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000704485 RCV002392791 RCV000389265 CA4880683 rs201552546 |
491 | G>R | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4880681 rs368279666 RCV000818515 RCV001655606 |
497 | A>T | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1048969639 RCV001070119 CA185432586 |
497 | A>V | Variant assessed as Somatic; 4.694e-05 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000301786 RCV000360958 rs773584143 RCV000187977 CA315611 |
503 | G>R | Seizures, benign familial neonatal, 2 Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1480684032 RCV001040746 |
507 | P>A | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002541863 RCV001298452 rs370333805 CA372219653 |
507 | P>R | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4880676 rs774311301 RCV000691753 |
509 | E>K | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA315613 rs768520561 RCV000187978 RCV001852469 |
513 | P>L | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001237532 CA4880675 RCV000726107 rs368013249 |
515 | L>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554622834 RCV000647898 CA372219592 COSM1096202 |
517 | A>T | Variant assessed as Somatic; impact. endometrium Benign neonatal seizures [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV003133297 RCV000516474 rs745463637 RCV001342298 COSM292267 CA4880673 |
518 | A>T | kidney Seizures, benign familial neonatal, 2 large_intestine Benign neonatal seizures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000300549 CA239571 RCV000174103 rs143683496 RCV000404166 COSM204275 |
522 | V>I | Seizures, benign familial neonatal, 2 Variant assessed as Somatic; 0.0 impact. large_intestine Benign neonatal seizures [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1825161652 RCV001347663 |
528 | R>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA372219335 rs1393085163 RCV001337248 RCV001706729 |
528 | R>C | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4880648 RCV000797854 rs781350596 |
530 | Y>H | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000187979 CA315615 RCV001808467 rs796052681 |
531 | K>E | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000187983 RCV000824971 rs762289015 RCV001380941 |
534 | F>missing | Intellectual disability Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1096201 RCV002282483 CA185432146 rs1005759975 RCV001209712 |
542 | D>N | large_intestine Variant assessed as Somatic; impact. endometrium skin Benign neonatal seizures [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002570626 RCV002508955 RCV001257731 rs1825159081 RCV001814296 |
553 | G>R | Intellectual disability Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563767053 RCV000685942 |
563 | Y>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1096199 RCV001574899 RCV001058487 CA4880632 rs746403693 |
566 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium Benign neonatal seizures [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4880608 rs375264509 RCV001315281 |
570 | M>I | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000712132 RCV001852470 RCV001162487 rs199999939 RCV002399698 CA315617 |
570 | M>T | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000661926 VAR_072741 RCV001529220 rs74582884 RCV002316199 RCV000081107 RCV001257744 CA148176 RCV000290815 RCV000384756 |
574 | P>S | Intellectual disability Seizures, benign familial neonatal, 2 Benign Neonatal Epilepsy Inborn genetic diseases Benign neonatal seizures rare variant; found in a patient with rolandic epilepsy and additional features such as mild developmental delay and abnormal behavior; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA315619 RCV000187981 rs74582884 RCV000622336 RCV001211061 |
574 | P>T | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001043722 rs1563764788 |
575 | G>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755560218 CA4880606 RCV001223321 |
575 | G>R | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs761487326 CA4880603 RCV000817107 |
579 | T>M | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001324873 rs1824994797 |
589 | S>L | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1824994259 RCV001234138 |
590 | A>V | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4880598 RCV000537641 rs556421495 |
592 | T>S | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA185431183 RCV000800837 rs868191966 RCV001766658 |
594 | P>S | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA372217980 rs1554622023 RCV000547984 |
600 | R>K | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA372217938 rs1469007568 RCV001313358 |
601 | N>K | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16612207 rs1060500606 RCV000468902 |
604 | Y>N | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA372217863 rs1488846886 RCV001298356 |
613 | I>T | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001040648 rs777180732 CA315621 |
615 | D>G | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs185511111 CA315626 RCV002408841 RCV000187985 |
629 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002527561 rs185511111 RCV001065210 RCV000523501 CA4880546 |
629 | V>I | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000767106 RCV000471330 CA315670 RCV002408842 rs185511111 RCV000188010 RCV000656018 RCV000765988 |
629 | V>L | Seizures, benign familial neonatal, 2 Childhood epilepsy with centrotemporal spikes Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA372217415 rs1466449283 RCV001039814 |
630 | Q>K | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000461514 RCV000486593 rs767903815 CA4880544 |
640 | V>M | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA372217288 rs1227129126 RCV002406582 RCV001329911 RCV000693247 |
647 | M>I | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001225032 rs1274926731 CA372217291 |
647 | M>L | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000283809 CA315628 RCV000187986 RCV000378150 RCV002317114 RCV001095231 rs554833870 |
653 | Q>R | Seizures, benign familial neonatal, 2 Benign Neonatal Epilepsy Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000526418 COSM1489011 RCV002418251 RCV001703460 CA4880531 rs199942237 |
655 | T>M | breast Inborn genetic diseases Benign neonatal seizures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA372217219 rs1423597114 RCV001252269 |
658 | Y>C | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001343797 rs1824811259 |
658 | Y>N | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001087307 RCV000515326 CA240523 rs147173555 RCV000724075 RCV002313035 |
665 | S>L | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM211464 rs201812160 RCV000551620 CA315630 |
669 | A>T | haematopoietic_and_lymphoid_tissue Benign neonatal seizures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA185430131 rs554613662 RCV001160875 |
672 | K>E | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1586750924 CA372217108 RCV000810895 |
675 | N>S | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA372217104 rs1307554348 RCV001303091 |
676 | R>G | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000433881 COSM1454914 RCV001865405 CA4880517 RCV003168710 rs773672399 |
679 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases Benign neonatal seizures [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000529707 rs1223253841 CA372217077 |
680 | L>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000817391 rs768163501 CA372217063 |
682 | T>A | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4880514 RCV001039398 rs779744869 |
686 | N>S | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4880513 RCV001219677 rs757584140 |
687 | Y>F | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001570467 RCV000690879 rs758790946 CA4880511 |
691 | G>D | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002415808 RCV000275862 rs747379988 RCV000370281 RCV001721204 CA315632 |
691 | G>S | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1131691408 CA372217000 RCV000493432 RCV001160874 |
692 | P>A | Seizures, benign familial neonatal, 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002418691 RCV001206984 rs755177673 CA4880508 |
693 | P>L | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1824805595 RCV001216658 |
694 | E>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4880505 rs760983146 RCV000693935 |
695 | P>L | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA372216978 RCV000999071 RCV001351239 rs1055327554 |
696 | P>T | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612470 RCV001481241 RCV000659109 rs977989588 |
708 | S>I | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060500605 RCV001331249 CA16612467 RCV000474531 |
710 | Y>C | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs181746838 RCV001082003 RCV000187990 RCV002415809 COSM1454912 CA315634 |
710 | Y>H | large_intestine Inborn genetic diseases Benign neonatal seizures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000540371 rs1554621412 |
713 | F>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687471 rs1554621412 |
714 | A>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA315636 rs112314858 RCV001232845 RCV002517874 RCV000416041 |
715 | H>R | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA315638 rs149324120 RCV000797329 RCV000187992 |
716 | D>H | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001241135 RCV000309906 rs377725346 COSM1660138 RCV000364676 CA4880495 |
722 | R>Q | kidney Seizures, benign familial neonatal, 2 Variant assessed as Somatic; 0.0 impact. Benign Neonatal Epilepsy Benign neonatal seizures [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA291845 RCV001159505 RCV002312898 rs142149782 RCV000476576 RCV000126495 |
723 | G>E | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001066966 rs1824797413 |
728 | G>A | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4880489 RCV001159504 rs764065145 RCV000703236 |
740 | T>M | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001058731 RCV000999070 rs375833070 CA4880486 |
746 | T>M | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691662 CA372216355 rs1563761711 |
747 | V>F | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056664 rs776413259 CA4880483 |
750 | I>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000285383 CA315642 RCV000656017 RCV002317115 RCV000858271 rs150821246 RCV000407786 |
755 | D>N | Seizures, benign familial neonatal, 2 Childhood epilepsy with centrotemporal spikes Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769248820 RCV001057266 CA4880480 |
757 | R>Q | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201183533 CA4880471 RCV001203783 RCV002480662 |
765 | D>E | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000625015 CA291847 rs114095081 RCV000712133 RCV002312899 RCV000319682 RCV000374391 RCV000126496 |
769 | P>H | Seizures, benign familial neonatal, 2 Benign Neonatal Epilepsy Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769160647 CA315644 RCV000792890 RCV000187995 |
773 | R>Q | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000821725 CA372216143 rs1284135753 |
774 | I>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001214920 rs747993516 |
777 | R>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA315646 RCV000278630 rs201328910 RCV000725514 RCV000388137 RCV002317116 |
777 | R>Q | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4880462 rs776128068 RCV000802132 |
777 | R>W | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746006725 RCV001316195 CA4880460 |
779 | R>K | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs138852641 RCV002446778 RCV000585180 RCV001814157 CA4880458 RCV000467985 COSM1623608 VAR_078682 |
780 | R>C | Seizures, benign familial neonatal, 2 liver Inborn genetic diseases Benign neonatal seizures found in patients with benign familial infantile seizures; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747235713 RCV001359968 CA315648 |
780 | R>H | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001070272 CA372216096 rs1391097567 |
782 | I>V | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000187998 RCV002514019 CA315650 rs754896169 |
784 | R>Q | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4880451 RCV002316219 RCV001368930 rs267601778 |
794 | S>L | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000532568 RCV000187999 rs764544537 CA315652 |
795 | V>I | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000798305 CA372216012 rs1289523204 |
796 | N>D | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA372215995 rs1563761409 RCV000688941 |
798 | E>A | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554621319 CA372215929 RCV000647888 |
808 | S>N | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000647887 rs530506549 RCV000188000 CA315654 RCV002228820 |
815 | D>Y | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs540574784 CA4880438 RCV000538307 |
819 | G>S | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000368463 RCV000723967 RCV002313716 CA240525 RCV000678048 RCV000327599 rs118192254 |
821 | N>S | Seizures, benign familial neonatal, 2 Benign Neonatal Epilepsy Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886041208 RCV002518805 RCV000335977 |
824 | S>missing | Benign neonatal seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647891 RCV000194011 CA207881 rs149004528 RCV001164437 |
831 | R>Q | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs185628977 RCV002314725 RCV000861903 RCV000187959 RCV001721203 CA315577 |
831 | R>W | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4880429 rs748320350 RCV002533342 RCV000647890 |
835 | E>D | Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001036552 CA185430052 rs894796810 |
836 | G>D | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4880420 rs751186425 RCV001759800 RCV001054430 |
845 | F>S | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4880419 rs765623435 RCV001857013 RCV000497350 |
846 | T>M | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4880415 RCV000523547 RCV002525126 rs761201259 |
849 | G>S | Variant assessed as Somatic; 0.0 impact. Benign neonatal seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762078830 RCV002521440 CA4880412 RCV000414451 |
856 | T>I | Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000660534 CA4880404 rs200647826 RCV001044531 RCV000414374 |
871 | P>A | Seizures, benign familial neonatal, 2 Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003165422 RCV000765987 RCV000188001 RCV000799369 CA315656 rs199682667 |
872 | I>V | Seizures, benign familial neonatal, 2 Inborn genetic diseases Benign neonatal seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA315658 rs1554660854 |
5 | A>T | No |
ClinGen Ensembl |
|
|
CA186258337 rs535134109 |
6 | R>C | No |
ClinGen 1000Genomes |
|
|
CA372293061 rs1382518994 |
6 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1420068758 CA372293048 |
8 | A>E | No |
ClinGen TOPMed |
|
|
rs1163952756 CA372293051 |
8 | A>T | No |
ClinGen TOPMed |
|
|
CA372293040 rs1359649725 |
9 | A>V | No |
ClinGen gnomAD |
|
|
CA186258336 rs950610665 |
10 | G>E | No |
ClinGen TOPMed |
|
|
CA372293028 rs1352880493 |
12 | A>S | No |
ClinGen TOPMed |
|
|
RCV000188005 rs772417096 |
13 | G>missing | No |
ClinVar dbSNP |
|
|
CA372293015 rs1357758074 |
14 | G>C | No |
ClinGen TOPMed |
|
|
rs1293079336 CA372293003 |
16 | G>C | No |
ClinGen TOPMed |
|
|
rs763797355 CA372292996 |
17 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4881033 rs763797355 |
17 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755333945 CA4881032 |
18 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755333945 CA372292991 |
18 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372292965 rs1476334493 |
22 | G>D | No |
ClinGen TOPMed |
|
|
CA186258333 rs1023114537 |
26 | A>S | No |
ClinGen TOPMed |
|
|
rs1271630840 CA372292932 |
27 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1342457621 CA372292935 |
27 | N>S | No |
ClinGen gnomAD |
|
|
rs1227699672 CA372292920 |
29 | A>V | No |
ClinGen gnomAD |
|
|
rs1346206352 CA372292916 |
30 | G>E | No |
ClinGen TOPMed |
|
|
CA186258332 rs1011750724 |
31 | G>A | No |
ClinGen TOPMed |
|
|
rs766773660 CA4881029 |
32 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754272127 CA4881030 |
32 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA372292907 rs754272127 |
32 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761196042 CA315660 |
33 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001092149 rs1412895282 |
34 | A>E | No |
ClinVar dbSNP |
|
|
CA372292893 rs1412895282 |
34 | A>V | No |
ClinGen gnomAD |
|
|
CA4881023 rs767638119 |
36 | A>P | No |
ClinGen ExAC |
|
|
rs761996139 CA4881021 |
37 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs761996139 CA372292881 |
37 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA372292862 rs1421966120 |
39 | E>D | No |
ClinGen gnomAD |
|
|
rs1448580874 CA372292868 |
39 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372292859 rs1190468863 |
40 | E>K | No |
ClinGen gnomAD |
|
|
CA4881020 rs568033682 |
41 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA186258331 rs867469884 |
41 | R>L | No |
ClinGen Ensembl |
|
|
rs1440264080 CA372292848 |
42 | K>E | No |
ClinGen gnomAD |
|
|
rs794726918 RCV000173345 CA238796 |
43 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA372292833 rs1316877906 |
44 | G>E | No |
ClinGen gnomAD |
|
|
CA372292836 rs1198906968 |
44 | G>R | No |
ClinGen gnomAD |
|
|
rs769495455 CA372292829 |
45 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769495455 CA4881016 |
45 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775400581 CA4881017 |
45 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs1452782861 CA372292824 |
46 | A>E | No |
ClinGen TOPMed |
|
|
rs1409166665 CA372292815 |
48 | G>S | No |
ClinGen TOPMed |
|
|
CA372292799 rs1316697709 |
50 | V>E | No |
ClinGen TOPMed |
|
|
rs1329571058 CA372292801 |
50 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746592316 CA4881011 |
51 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372292796 rs1398300403 |
51 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1398300403 CA372292795 |
51 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV000595638 CA372292788 rs1327292650 |
52 | Q>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1368211262 CA372292785 |
52 | Q>R | No |
ClinGen TOPMed |
|
|
CA372292779 rs1475773270 |
53 | V>F | No |
ClinGen gnomAD |
|
|
rs374984158 CA4881008 |
59 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4881004 rs768194589 |
61 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4881005 rs750884730 |
61 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1822519573 RCV001200488 |
65 | G>A | No |
ClinVar dbSNP |
|
|
rs549681789 CA4881002 |
65 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 65 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549681789 CA372292705 |
65 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764387016 CA4881001 |
66 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4881000 rs763182139 |
69 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs963533666 CA186258327 |
73 | G>S | No |
ClinGen Ensembl |
|
|
rs776548429 CA4880996 |
74 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA372292658 rs776548429 |
74 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA372292645 rs1438607992 |
76 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4880993 rs747768821 |
76 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747768821 CA4880992 |
76 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372292644 rs1438607992 |
76 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372292641 rs1235793060 |
77 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372292639 rs1235793060 |
77 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4880991 rs778442808 |
79 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77663285 CA4880989 |
81 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA186258326 rs77663285 |
81 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4880990 rs77663285 |
81 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781753428 CA4880988 |
84 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781753428 CA372292596 |
84 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA372292591 rs1286727120 |
85 | I>T | No |
ClinGen gnomAD |
|
|
rs969479579 CA186258325 |
85 | I>V | No |
ClinGen Ensembl |
|
|
rs1239334203 CA372292588 |
86 | G>R | No |
ClinGen gnomAD |
|
|
CA186258324 rs1051073307 |
88 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752955788 CA4880983 |
92 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA372292550 rs1328966824 |
92 | P>R | No |
ClinGen TOPMed |
|
|
rs1346150833 CA372292546 |
93 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372292536 rs1418381991 |
95 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372292524 rs1377968627 |
97 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372292517 rs1439616512 |
98 | K>E | No |
ClinGen TOPMed |
|
|
rs1433420836 CA372292490 |
101 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372292487 rs867066299 |
102 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA186258323 rs867066299 |
102 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372292488 rs867066299 |
102 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4880980 rs776460879 |
103 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA372292468 rs766185814 |
105 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4880979 rs766185814 |
105 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA372292462 rs1263593623 |
106 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA186258322 rs371238607 |
107 | I>F | No |
ClinGen Ensembl |
|
|
CA315584 RCV000187963 rs796052673 |
110 | L>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA372292422 rs1233986231 |
112 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4880977 rs773139430 |
112 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs747670092 CA4880975 |
113 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 116 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899931046 CA186258319 |
119 | R>P | No |
ClinGen TOPMed |
|
|
CA372292377 rs899931046 |
119 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372292378 rs1304097670 |
119 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371579261 CA4880973 |
124 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780217977 CA4880925 |
144 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4880924 rs756376650 |
148 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs963281313 CA186224616 |
151 | V>A | No |
ClinGen Ensembl |
|
|
rs149104914 CA186224614 |
152 | S>L | No |
ClinGen ESP |
|
| TCGA novel | 155 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186224422 rs775525711 |
161 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 163 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777833596 CA4880902 |
170 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA372291204 rs1215912949 |
175 | I>V | No |
ClinGen gnomAD |
|
|
CA372291167 rs1376010469 |
180 | C>Y | No |
ClinGen TOPMed |
|
|
rs752713815 CA4880900 |
181 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs764773448 CA4880899 |
181 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867625794 CA186224417 |
183 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1563793348 CA372291133 |
185 | K>R | No |
ClinGen Ensembl |
|
|
rs1477700255 CA372291129 |
186 | G>S | No |
ClinGen TOPMed |
|
|
CA4880898 rs753421406 COSM3715884 |
188 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA315668 RCV000188008 rs754551218 COSM177338 |
188 | R>W | Variant assessed as Somatic; 0.0005545 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs919035877 COSM79210 CA186224416 |
190 | R>* | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4880897 rs766121286 |
193 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 195 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372291065 rs1418632037 |
196 | K>R | No |
ClinGen gnomAD |
|
|
CA4880896 rs762050751 |
197 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4880894 rs764464104 |
200 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372291042 rs1433362780 |
200 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586810171 CA372291026 |
202 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 204 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372290946 rs1323960958 |
212 | V>G | No |
ClinGen gnomAD |
|
|
rs866640701 CA186223955 |
216 | G>E | No |
ClinGen Ensembl |
|
|
rs537457659 CA4880867 |
217 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4880868 rs771981916 |
217 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1586806142 CA372290877 |
224 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 226 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM292321 rs749205120 CA4880865 |
230 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372290840 rs749205120 |
230 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4880862 rs750016305 |
236 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA372290785 rs1344267483 |
239 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA372290786 rs1438793695 |
239 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4880860 rs753111892 |
246 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539721194 CA4880857 |
258 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372290634 rs1199073727 |
260 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372290599 rs1284315847 |
265 | W>G | No |
ClinGen gnomAD |
|
|
RCV000187969 CA315595 rs796052677 |
266 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA186223489 rs376663593 |
266 | Y>N | No |
ClinGen Ensembl |
|
|
rs1317809487 CA372290583 |
267 | I>N | No |
ClinGen Ensembl |
|
|
CA372290577 rs1282879239 |
268 | G>C | No |
ClinGen gnomAD |
|
|
rs1256382316 CA372290539 COSM1569192 |
274 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 276 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745830623 CA4880829 |
280 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA186223486 rs62519577 |
285 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372290451 rs1586801238 |
288 | E>A | No |
ClinGen Ensembl |
|
|
rs755366368 CA4880825 |
288 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749655951 CA4880824 |
289 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs756638749 CA4880822 |
290 | D>E | No |
ClinGen ExAC |
|
|
rs1064795142 RCV000483351 CA16618601 |
293 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA4880820 rs767637969 |
295 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4880821 rs750997381 |
295 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372290394 rs1172039592 |
296 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1388844410 CA372290379 |
298 | E>G | No |
ClinGen TOPMed |
|
|
CA4880817 rs764285990 CA372290354 |
301 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs62519576 CA186223485 |
302 | T>N | No |
ClinGen Ensembl |
|
|
CA372290332 rs1085307996 RCV000490209 |
305 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1554627423 CA372290311 RCV000578676 |
308 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1826478037 RCV001310640 |
313 | T>I | No |
ClinVar dbSNP |
|
|
rs1326172406 CA372290183 |
326 | T>M | No |
ClinGen gnomAD |
|
|
CA372290162 rs1365697592 |
329 | G>S | No |
ClinGen gnomAD |
|
|
CA372290149 rs1158344735 |
331 | L>P | No |
ClinGen TOPMed |
|
|
rs1563787859 CA372290145 RCV000782011 |
332 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16621869 rs1064797349 RCV000488195 |
333 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs139819686 CA4880801 |
338 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764957038 CA4880800 |
341 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 344 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355945173 CA372290055 |
346 | L>F | No |
ClinGen gnomAD |
|
|
CA372290045 rs1308029173 |
348 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372290025 rs1470163069 |
349 | G>D | No |
ClinGen gnomAD |
|
|
RCV000523991 rs796052680 CA372289998 |
354 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000187973 CA315603 rs796052680 |
354 | G>W | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 356 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372289983 RCV000498312 rs1554627025 |
356 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 358 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM248955 rs766876702 CA4880780 |
361 | E>D | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4880778 rs774141755 |
368 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372289882 rs1221008829 |
370 | K>R | No |
ClinGen gnomAD |
|
|
rs1418558443 CA372289860 |
373 | K>T | No |
ClinGen gnomAD |
|
|
CA372289854 rs1295477856 |
374 | P>T | No |
ClinGen gnomAD |
|
|
CA4880762 rs761196608 |
382 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA186222957 rs373234528 |
388 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA372289734 rs1406722748 |
390 | P>T | No |
ClinGen TOPMed |
|
|
rs751162568 CA4880761 |
391 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1420105071 CA372289685 |
397 | A>V | No |
ClinGen gnomAD |
|
|
CA4880759 rs762651931 |
399 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA186222955 rs943073757 |
400 | R>I | No |
ClinGen TOPMed |
|
|
rs775297428 CA4880758 |
403 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA372289625 rs1490600682 |
406 | V>A | No |
ClinGen TOPMed |
|
|
rs144474368 CA372289627 |
406 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 408 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289201242 CA372289613 |
408 | F>S | No |
ClinGen gnomAD |
|
|
rs772111090 CA186222953 |
412 | R>G | No |
ClinGen TOPMed |
|
|
CA4880735 rs749434016 |
413 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4880734 rs531125020 |
417 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563949117 CA4880733 |
417 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1479702428 CA372289531 |
418 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1244488061 CA372289526 |
418 | A>V | No |
ClinGen gnomAD |
|
|
rs1447073118 CA372289517 |
420 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185432838 rs930753751 |
422 | Q>E | No |
ClinGen Ensembl |
|
|
CA372220475 rs1586764088 |
425 | G>C | No |
ClinGen Ensembl |
|
|
rs1586764067 CA372220377 |
433 | S>C | No |
ClinGen Ensembl |
|
|
rs895278799 CA185432836 COSM1674176 |
436 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA4880720 rs764621574 |
440 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762998115 CA4880719 |
444 | L>V | No |
ClinGen ExAC |
|
|
CA4880717 rs769794725 |
446 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4880716 rs759734514 |
447 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202865267 CA372220195 |
448 | L>M | No |
ClinGen gnomAD |
|
|
CA372220167 rs1440481290 |
450 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM749315 rs201688404 CA185432832 |
452 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA372220131 rs577543960 |
453 | I>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4880715 rs577543960 |
453 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4880713 rs147190128 |
457 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1477487082 CA372220058 |
458 | S>C | No |
ClinGen gnomAD |
|
|
CA372220032 rs1288151487 |
460 | E>Q | No |
ClinGen TOPMed |
|
|
CA372219980 rs1563769019 |
463 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 464 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880712 rs777831466 |
464 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA372219961 rs1182760341 |
465 | G>D | No |
ClinGen TOPMed |
|
|
CA372219924 rs1409856489 |
469 | K>E | No |
ClinGen gnomAD |
|
|
CA4880709 rs753513804 |
471 | R>C | Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372219907 rs1198584017 |
471 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747553926 CA4880708 |
473 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs747553926 CA185432825 |
473 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs374854556 CA185432819 |
477 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA185432818 rs141821338 |
477 | R>L | No |
ClinGen ESP gnomAD |
|
|
CA4880706 rs763476056 |
478 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4880705 rs763476056 |
478 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA185432812 rs753147742 |
482 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4880704 rs753147742 |
482 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4880703 rs372086771 |
482 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371480184 CA372219751 |
493 | G>V | No |
ClinGen gnomAD |
|
|
CA372219747 rs1586762784 |
494 | D>A | No |
ClinGen Ensembl |
|
|
rs1406040212 CA372219737 |
495 | P>L | No |
ClinGen gnomAD |
|
|
CA372219741 rs1341626282 |
495 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1450561487 CA372219732 |
496 | M>T | No |
ClinGen TOPMed |
|
|
CA372219725 rs1048969639 |
497 | A>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 498 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372219711 rs1346661498 |
499 | D>G | No |
ClinGen gnomAD |
|
|
rs1159336382 CA372219698 |
501 | G>S | No |
ClinGen gnomAD |
|
|
rs1229371057 CA372219695 |
501 | G>V | No |
ClinGen TOPMed |
|
|
CA372219690 rs1409425500 |
502 | Y>C | No |
ClinGen gnomAD |
|
|
CA4880678 rs370333805 |
507 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480684032 CA372219655 |
507 | P>S | No |
ClinGen gnomAD |
|
|
CA372219651 rs1189606083 |
508 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372219635 RCV000594611 rs1554622841 |
510 | D>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 510 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372219627 rs1215304304 |
511 | M>T | No |
ClinGen gnomAD |
|
|
RCV002261027 CA10602981 RCV000278507 rs200219106 |
511 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1586762650 CA372219608 |
514 | T>P | No |
ClinGen Ensembl |
|
|
CA4880674 rs373844113 |
517 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM175926 rs1289108911 CA372219574 |
520 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA372219573 rs1433850673 |
520 | R>Q | No |
ClinGen gnomAD |
|
|
RCV000413455 CA16042612 rs1057518505 |
521 | A>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs558277468 CA4880651 |
526 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372219341 rs1310260000 |
527 | F>L | No |
ClinGen gnomAD |
|
|
rs1393085163 CA372219339 |
528 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4880650 rs750577320 |
528 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185432154 rs746075085 |
532 | K>E | No |
ClinGen Ensembl |
|
|
rs1164459909 CA372219278 |
532 | K>R | No |
ClinGen gnomAD |
|
| rs762289015 | 533 | K>N | Variant assessed as Somatic; 0.0003193 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 535 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185432150 rs1038934494 |
535 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372219174 RCV000517208 rs140607300 |
539 | R>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372219054 rs759494626 |
547 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775965122 CA4880640 |
548 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372218991 rs1222807944 |
552 | A>P | No |
ClinGen gnomAD |
|
|
CA4880637 rs141361892 |
555 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4880635 rs749712918 COSM1096200 |
556 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM749318 rs1044594478 CA185432136 |
557 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA372218918 rs1317283472 |
557 | M>T | No |
ClinGen gnomAD |
|
|
rs762201196 CA185432134 |
558 | L>I | No |
ClinGen Ensembl |
|
|
CA372218860 rs1226430983 |
561 | I>M | No |
ClinGen gnomAD |
|
|
RCV000522724 rs1003860988 CA185432130 |
565 | Q>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA372218794 rs746403693 |
566 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185431195 rs998713867 |
568 | I>T | No |
ClinGen TOPMed |
|
|
CA4880611 rs777738568 |
568 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372671883 CA4880610 |
569 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372218688 rs1263741168 |
569 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 569 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880607 rs184481890 |
571 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs796052684 RCV000188004 |
573 | T>missing | No |
ClinVar dbSNP |
|
| rs796052684 | 573 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 574 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880605 rs371890934 |
576 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA185431190 rs371890934 |
576 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 577 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767162004 CA4880604 |
579 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1399465940 CA372218591 |
581 | K>E | No |
ClinGen gnomAD |
|
|
CA4880601 rs765682322 |
583 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1429791727 CA372218527 |
585 | S>A | No |
ClinGen gnomAD |
|
|
CA372218139 rs1389239356 |
588 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4880599 rs776972398 |
589 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA372218115 rs1237768737 |
590 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1186787784 CA372218103 |
591 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262795143 CA372218075 |
593 | F>L | No |
ClinGen gnomAD |
|
|
rs1262795143 CA372218072 |
593 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 595 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16618599 RCV000478698 rs1064796743 |
595 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4880597 rs747502552 |
596 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA185431180 rs926800384 |
596 | Q>P | No |
ClinGen Ensembl |
|
|
rs930452828 CA185431178 |
597 | Q>* | No |
ClinGen TOPMed |
|
|
CA185431176 rs982723335 |
598 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 598 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272774521 CA372218008 |
598 | S>P | No |
ClinGen gnomAD |
|
|
rs1272774521 CA372218009 |
598 | S>T | No |
ClinGen gnomAD |
|
|
rs1586753732 CA372217931 |
602 | E>D | No |
ClinGen Ensembl |
|
|
rs1586753735 CA372217937 |
602 | E>K | No |
ClinGen Ensembl |
|
|
rs1159864473 CA372217919 |
604 | Y>F | No |
ClinGen gnomAD |
|
|
CA372217914 rs1158471159 COSM161867 |
605 | V>I | large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4880572 rs779827549 |
606 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372217900 rs1586753702 |
607 | R>S | No |
ClinGen Ensembl |
|
|
CA4880571 rs769487353 |
608 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 613 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880568 rs756796196 |
614 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756796196 CA372217860 |
614 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752307704 CA4880566 |
617 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA315624 RCV000187984 rs758002609 |
617 | S>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA372217788 rs1220517722 CA372217787 |
618 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1285710862 CA372217801 |
618 | M>V | No |
ClinGen gnomAD |
|
|
CA4880565 rs766753639 |
620 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs761014569 CA4880564 |
623 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 625 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365134995 CA372217701 |
625 | V>I | No |
ClinGen TOPMed |
|
|
CA372217412 rs1287713207 |
630 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 632 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM40214 CA372217387 rs1383592371 |
633 | G>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1423119679 CA372217380 |
634 | K>R | No |
ClinGen gnomAD |
|
|
CA4880545 COSM3698834 rs756450456 |
637 | D>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372217359 rs1296004212 |
637 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 638 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174104987 CA372217354 |
638 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 639 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880543 rs762238111 |
641 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1245277178 CA372217323 |
642 | M>I | No |
ClinGen gnomAD |
|
|
CA4880542 rs752071200 |
642 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs970566862 CA185430160 |
643 | H>D | No |
ClinGen TOPMed |
|
|
rs551615449 CA4880540 |
644 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4880541 rs551615449 |
644 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765425279 CA4880539 |
646 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776502444 CA4880537 |
647 | M>T | No |
ClinGen ExAC |
|
|
rs532323444 CA4880534 COSM1096198 |
649 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000659110 CA4880535 rs770863845 |
649 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA372217261 rs1378401344 |
651 | Q>H | No |
ClinGen gnomAD |
|
|
CA372217258 rs1488002666 |
652 | V>L | No |
ClinGen TOPMed |
|
|
CA4880532 rs554833870 |
653 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781473829 CA4880529 COSM136687 |
656 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752099485 CA4880527 |
657 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4880528 rs757674032 |
657 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372217228 rs757674032 |
657 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372217212 rs1412338819 |
659 | P>Q | No |
ClinGen gnomAD |
|
|
rs764547562 CA4880526 |
662 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA372217177 rs1251860501 |
665 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 665 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 668 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374622605 CA4880523 |
669 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867050625 CA185430133 |
670 | E>Q | No |
ClinGen Ensembl |
|
|
CA372217141 rs1320871528 |
671 | K>E | No |
ClinGen gnomAD |
|
|
CA4880521 rs760589154 |
674 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773181810 CA4880520 |
677 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA372217096 rs1586750893 |
677 | Y>H | No |
ClinGen Ensembl |
|
|
rs773672399 CA4880518 |
679 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223253841 CA372217078 |
680 | L>M | No |
ClinGen TOPMed |
|
|
rs768163501 CA4880516 |
682 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA372217057 rs1162042366 |
683 | I>V | No |
ClinGen gnomAD |
|
|
CA372217026 rs757584140 |
687 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185430120 rs201217244 |
687 | Y>N | No |
ClinGen 1000Genomes |
|
|
CA185430117 rs80024988 |
688 | S>F | No |
ClinGen Ensembl |
|
|
rs758790946 CA4880512 |
691 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488036655 CA372216996 |
692 | P>L | No |
ClinGen gnomAD |
|
|
rs1131691408 CA372216999 |
692 | P>S | No |
ClinGen gnomAD |
|
|
CA4880506 rs766760025 |
694 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760983146 CA185430108 |
695 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185430105 rs1055327554 |
696 | P>S | No |
ClinGen Ensembl |
|
|
CA372216970 rs1328550383 |
697 | Y>C | No |
ClinGen gnomAD |
|
|
rs1332849565 CA372216972 |
697 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 698 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563382297 CA4880503 |
700 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4880500 rs202072205 |
704 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 706 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397843816 CA372216870 |
707 | V>I | No |
ClinGen TOPMed |
|
| rs1554621412 | 713 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372216764 rs1199166185 |
714 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372216737 rs1465176244 |
716 | D>E | No |
ClinGen gnomAD |
|
|
CA4880498 rs149324120 |
716 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372216700 rs1267446734 |
719 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4880496 rs779605492 |
721 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372216641 rs1183228440 |
724 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372216634 rs1300089479 |
725 | P>S | No |
ClinGen gnomAD |
|
|
CA372216622 rs1436352921 |
726 | S>C | No |
ClinGen gnomAD |
|
|
CA372216611 rs1364844131 |
727 | S>P | No |
ClinGen gnomAD |
|
|
CA4880493 rs777401183 |
729 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs750676215 CA4880492 |
729 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000187993 CA315640 rs796052682 |
732 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4880490 rs761731305 |
735 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs761731305 CA4880491 |
735 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA185430073 rs999187181 |
736 | S>A | No |
ClinGen TOPMed |
|
|
CA372216488 rs1172699877 |
736 | S>F | No |
ClinGen gnomAD |
|
|
CA185430071 rs966171130 |
737 | S>L | No |
ClinGen gnomAD |
|
|
rs1170552151 CA372216454 |
739 | T>I | No |
ClinGen TOPMed |
|
|
rs764065145 CA4880488 |
740 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372216431 rs1449852296 |
741 | Y>C | No |
ClinGen gnomAD |
|
|
CA372216432 rs1449852296 |
741 | Y>S | No |
ClinGen gnomAD |
|
|
rs1057517883 RCV000414403 CA16042749 |
742 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4880487 rs762898096 |
743 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 744 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185430068 rs966812748 |
745 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 749 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs997731026 CA185430066 |
751 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1586750466 CA372216300 |
752 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 756 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779444430 CA4880481 |
757 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA372216236 rs749821034 |
758 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs749821034 CA4880479 |
758 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs780228991 CA4880478 |
759 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs756271345 CA4880477 |
760 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372216218 rs1216704363 |
761 | H>N | No |
ClinGen TOPMed |
|
|
CA4880475 rs781514157 |
761 | H>Q | No |
ClinGen ExAC |
|
|
CA372216216 rs1309507077 |
761 | H>R | No |
ClinGen gnomAD |
|
|
CA4880474 rs756976785 |
762 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756976785 CA372216210 |
762 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372216199 rs1165980000 |
764 | A>P | No |
ClinGen gnomAD |
|
|
CA372216198 rs1165980000 |
764 | A>T | No |
ClinGen gnomAD |
|
|
CA4880472 rs751304048 |
765 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA185430064 rs994599035 |
766 | L>Q | No |
ClinGen Ensembl |
|
|
CA372216180 rs1484732298 |
767 | Q>R | No |
ClinGen gnomAD |
|
|
rs764649595 CA4880468 |
768 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759127349 CA4880467 |
769 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1330311 CA4880465 rs372002816 |
771 | S>L | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs372002816 CA4880466 |
771 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 773 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539957072 CA4880463 |
775 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 778 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 779 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138852641 CA4880459 |
780 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1391097567 CA372216097 |
782 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 783 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162617343 CA372216085 |
783 | T>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201380158 CA4880455 |
784 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4880452 rs760350027 |
788 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs990515326 CA185430061 |
793 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 794 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185430060 rs267601778 |
794 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA185430058 rs957388952 |
796 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372215998 rs1277414579 |
798 | E>K | No |
ClinGen gnomAD |
|
|
CA4880450 rs567544502 |
799 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549045425 CA4880448 |
799 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549045425 CA4880449 |
799 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372215970 rs1459646148 |
802 | R>K | No |
ClinGen gnomAD |
|
|
CA4880447 rs776705215 |
802 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 804 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159744493 CA372215941 |
806 | G>V | No |
ClinGen gnomAD |
|
|
rs368378896 CA4880446 |
808 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372215904 rs1193165605 |
812 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778009983 CA4880444 |
814 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA372215889 rs1586750031 |
814 | D>N | No |
ClinGen Ensembl |
|
|
rs1414304681 CA372215879 |
815 | D>G | No |
ClinGen TOPMed |
|
|
CA4880440 rs753729617 |
818 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1220429228 CA372215846 |
820 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 821 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372215832 rs1563761301 |
822 | G>V | No |
ClinGen Ensembl |
|
|
rs143789582 CA185430056 |
822 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4880437 COSM139776 rs767331428 |
823 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
RCV000781976 CA372215829 rs1563761293 |
823 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1586749926 CA372215824 |
824 | S>A | No |
ClinGen Ensembl |
|
|
rs1019043967 CA185430055 COSM1096191 |
824 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1019043967 CA372215822 |
824 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4880434 rs765525755 |
825 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs760032589 CA4880433 |
828 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA185430054 rs185628977 |
831 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA185430053 rs113548597 |
832 | Y>C | No |
ClinGen Ensembl |
|
|
rs1194094419 CA372215754 |
832 | Y>H | No |
ClinGen gnomAD |
|
|
CA4880432 rs760792695 |
833 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM204271 rs772240164 CA4880430 |
834 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA372215717 rs1563761224 |
835 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1245552106 CA372215698 |
836 | G>S | No |
ClinGen TOPMed |
|
|
rs145883169 CA4880428 |
838 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4880424 COSM204270 rs202163980 |
842 | T>M | Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4880422 rs780883953 |
843 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 843 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344076719 CA372215583 |
844 | P>H | No |
ClinGen gnomAD |
|
|
rs1344076719 CA372215579 |
844 | P>R | No |
ClinGen gnomAD |
|
|
rs751186425 CA4880421 |
845 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1235163714 CA372215507 |
852 | P>L | No |
ClinGen Ensembl |
|
|
CA4880413 rs772150176 |
854 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372215489 rs1390991069 |
856 | T>A | No |
ClinGen gnomAD |
|
|
rs768462698 CA372215485 CA4880410 |
857 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749089892 CA4880409 |
860 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA372215443 rs1256140128 |
863 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4880406 rs574185551 |
866 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1586749629 CA372215425 |
866 | T>P | No |
ClinGen Ensembl |
|
|
CA372215407 rs1374143952 |
869 | N>D | No |
ClinGen TOPMed |
|
|
CA372215401 rs1238931204 |
869 | N>K | No |
ClinGen TOPMed |
|
|
CA372215404 rs1203634906 |
869 | N>S | No |
ClinGen gnomAD |
|
|
rs200647826 CA4880405 |
871 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with O43525
[MIM: 121201]: Seizures, benign familial neonatal 2 (BFNS2)
A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. {ECO:0000269|PubMed:10852552, ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:25982755, ECO:0000269|PubMed:9425900, ECO:0000269|PubMed:9872318}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. {ECO:0000269|PubMed:10852552, ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:25982755, ECO:0000269|PubMed:9425900, ECO:0000269|PubMed:9872318}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon initial segment | Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| node of Ranvier | An axon part that is a gap in the myelin where voltage-gated sodium channels cluster and saltatory conduction is executed. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| delayed rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow. |
| 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. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| membrane hyperpolarization | The process in which membrane potential increases with respect to its steady-state potential, usually from negative potential to a more negative potential. For example, during the repolarization phase of an action potential the membrane potential often becomes more negative or hyperpolarized before returning to the steady-state resting potential. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P58126 | KCNQ3 | Potassium voltage-gated channel subfamily KQT member 3 | Bos taurus (Bovine) | PR |
| P56696 | KCNQ4 | Potassium voltage-gated channel subfamily KQT member 4 | Homo sapiens (Human) | PR |
| Q9JK45 | Kcnq5 | Potassium voltage-gated channel subfamily KQT member 5 | Mus musculus (Mouse) | PR |
| P97414 | Kcnq1 | Potassium voltage-gated channel subfamily KQT member 1 | Mus musculus (Mouse) | PR |
| Q9JK97 | Kcnq4 | Potassium voltage-gated channel subfamily KQT member 4 | Mus musculus (Mouse) | PR |
| Q8K3F6 | Kcnq3 | Potassium voltage-gated channel subfamily KQT member 3 | Mus musculus (Mouse) | PR |
| Q9JK96 | Kcnq4 | Potassium voltage-gated channel subfamily KQT member 4 | Rattus norvegicus (Rat) | PR |
| O88944 | Kcnq3 | Potassium voltage-gated channel subfamily KQT member 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLKARRAAG | AAGGGGDGGG | GGGGAANPAG | GDAAAAGDEE | RKVGLAPGDV | EQVTLALGAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ADKDGTLLLE | GGGRDEGQRR | TPQGIGLLAK | TPLSRPVKRN | NAKYRRIQTL | IYDALERPRG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WALLYHALVF | LIVLGCLILA | VLTTFKEYET | VSGDWLLLLE | TFAIFIFGAE | FALRIWAAGC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CCRYKGWRGR | LKFARKPLCM | LDIFVLIASV | PVVAVGNQGN | VLATSLRSLR | FLQILRMLRM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DRRGGTWKLL | GSAICAHSKE | LITAWYIGFL | TLILSSFLVY | LVEKDVPEVD | AQGEEMKEEF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ETYADALWWG | LITLATIGYG | DKTPKTWEGR | LIAATFSLIG | VSFFALPAGI | LGSGLALKVQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EQHRQKHFEK | RRKPAAELIQ | AAWRYYATNP | NRIDLVATWR | FYESVVSFPF | FRKEQLEAAS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SQKLGLLDRV | RLSNPRGSNT | KGKLFTPLNV | DAIEESPSKE | PKPVGLNNKE | RFRTAFRMKA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YAFWQSSEDA | GTGDPMAEDR | GYGNDFPIED | MIPTLKAAIR | AVRILQFRLY | KKKFKETLRP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YDVKDVIEQY | SAGHLDMLSR | IKYLQTRIDM | IFTPGPPSTP | KHKKSQKGSA | FTFPSQQSPR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NEPYVARPST | SEIEDQSMMG | KFVKVERQVQ | DMGKKLDFLV | DMHMQHMERL | QVQVTEYYPT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KGTSSPAEAE | KKEDNRYSDL | KTIICNYSET | GPPEPPYSFH | QVTIDKVSPY | GFFAHDPVNL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PRGGPSSGKV | QATPPSSATT | YVERPTVLPI | LTLLDSRVSC | HSQADLQGPY | SDRISPRQRR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SITRDSDTPL | SLMSVNHEEL | ERSPSGFSIS | QDRDDYVFGP | NGGSSWMREK | RYLAEGETDT |
| 850 | 860 | 870 | |||
| DTDPFTPSGS | MPLSSTGDGI | SDSVWTPSNK | PI |