P26358
EV
Gene name |
DNMT1 (AIM, CXXC9, DNMT) |
Protein name |
DNA (cytosine-5)-methyltransferase 1 |
Names |
Dnmt1, CXXC-type zinc finger protein 9, DNA methyltransferase HsaI, DNA MTase HsaI, M.HsaI, MCMT |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1786 |
EC number |
2.1.1.37: Methyltransferases |
Protein Class |
CYTOSINE-SPECIFIC METHYLTRANSFERASE (PTHR10629) |
Descriptions
DNMT1 (DNA methyltransferase) is autoinhibited by its intramolecular domain-domain interactions. The replication foci targeting sequence (RFTS) domain blocks the entrance of DNA into the catalytic pocket. Histone H3 ubiquitination activates DNMT1 by binding to the RFTS domain, leading to the bending of the α4-helix in the RFTS domain and rotation and movement of the RFTS domain away from the target recognition domain (TRD). This dissociates the RFTS domain from the catalytic core, contributing to activating the autoinhibited conformation of DNMT1.
Autoinhibitory domains (AIDs)
Target domain |
1136-1593 (Methyltransferae domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis |
Accessory elements
No accessory elements
References
- Sun J et al. (2023) "Mechanism studies of the activation of DNA methyltransferase DNMT1 triggered by histone H3 ubiquitination, revealed by multi-scale molecular dynamics simulations", Science China. Life sciences, 66, 313-323
- Song J et al. (2011) "Structure of DNMT1-DNA complex reveals a role for autoinhibition in maintenance DNA methylation", Science (New York, N.Y.), 331, 1036-40
Autoinhibited structure
Activated structure
22 structures for P26358
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EPZ | X-ray | 231 A | A/B | 351-600 | PDB |
| 3PTA | X-ray | 360 A | A | 646-1600 | PDB |
| 3SWR | X-ray | 249 A | A | 601-1600 | PDB |
| 4WXX | X-ray | 262 A | A/B | 351-1600 | PDB |
| 4YOC | X-ray | 292 A | A | 600-1600 | PDB |
| 4Z96 | X-ray | 285 A | C | 1098-1129 | PDB |
| 4Z97 | X-ray | 300 A | C | 1098-1129 | PDB |
| 5WVO | X-ray | 200 A | C | 351-600 | PDB |
| 5YDR | X-ray | 200 A | B | 351-599 | PDB |
| 6K3A | X-ray | 230 A | B/D/F | 161-180 | PDB |
| 6L1F | X-ray | 190 A | A | 140-145 | PDB |
| 6X9I | X-ray | 220 A | A | 729-1600 | PDB |
| 6X9J | X-ray | 179 A | A | 729-1600 | PDB |
| 6X9K | X-ray | 265 A | A | 729-1600 | PDB |
| 7SFC | X-ray | 197 A | A | 729-1600 | PDB |
| 7SFD | X-ray | 209 A | A | 729-1600 | PDB |
| 7SFE | X-ray | 255 A | A | 729-1600 | PDB |
| 7SFF | X-ray | 205 A | A | 729-1600 | PDB |
| 7SFG | X-ray | 243 A | A | 729-1600 | PDB |
| 7XI9 | EM | 252 A | A | 351-1616 | PDB |
| 7XIB | EM | 223 A | A | 351-1616 | PDB |
| AF-P26358-F1 | Predicted | AlphaFoldDB |
867 variants for P26358
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs780503694 RCV000649353 CA9188874 |
26 | R>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746687493 CA9188808 RCV000692609 |
77 | G>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000525539 VAR_024605 CA9188801 rs16999593 RCV000246863 |
97 | H>R | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000649354 CA403946565 rs1375073063 |
100 | N>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1401130665 RCV000703179 CA403946553 |
101 | R>Q | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9188798 rs369196079 RCV000700835 |
101 | R>W | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9188797 RCV000649362 rs759600542 |
106 | R>C | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs376894659 CA9188794 RCV000555892 |
110 | G>R | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000543299 CA9188782 rs75616428 |
120 | V>L | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146601335 CA9188776 RCV000649363 |
128 | P>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000235285 RCV000706094 rs146601335 CA9188775 |
128 | P>T | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16043547 rs1057518769 RCV000415045 |
131 | P>S | Ataxia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000557552 COSM169994 rs775139340 CA9188762 |
136 | R>H | large_intestine Hereditary sensory neuropathy-deafness-dementia syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9188759 RCV000534735 RCV000734145 rs377146699 |
137 | T>M | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10651386 rs886054129 RCV000312581 |
151 | P>R | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9188705 RCV000540967 rs201319352 |
158 | T>P | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA305181267 rs1020363356 RCV000695747 |
160 | K>Q | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000689851 CA9188633 rs758190156 |
216 | P>L | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374856119 CA9188634 RCV000932090 RCV001459175 |
216 | P>T | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000222882 rs150999369 RCV000546317 CA9188625 |
228 | G>E | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000649358 CA9188622 rs771381056 |
230 | R>H | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9188596 RCV000686192 rs779634956 |
252 | P>L | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766504703 CA9188559 RCV000694576 |
270 | V>A | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000692423 CA9188560 rs368960099 RCV000657954 |
270 | V>M | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000649355 rs1257025095 CA403941959 |
276 | E>K | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1568241116 RCV000685139 |
282 | D>missing | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000309242 rs761747950 CA10651385 |
290 | P>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000216984 RCV000536816 rs148831705 CA9188527 |
291 | K>E | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775360871 COSM1390031 RCV000699287 CA9188505 |
297 | R>Q | large_intestine Hereditary sensory neuropathy-deafness-dementia syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000602957 CA9188502 rs143287044 RCV000557162 |
310 | Q>P | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000537884 rs61758431 CA9188501 |
311 | I>M | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000124762 RCV000339574 VAR_051960 CA290658 rs2228612 |
311 | I>V | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000649357 CA9188409 rs201945078 |
339 | R>H | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9188406 rs529074384 RCV000649356 |
340 | A>T | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1064796441 RCV000478729 CA16620722 RCV001856874 |
344 | M>I | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222678 rs2038531657 |
350 | P>T | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1316802867 CA403939804 RCV000696024 |
354 | I>L | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA403938026 RCV000533491 rs1403539644 |
444 | D>H | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA305172863 RCV000700412 rs979325432 |
449 | L>V | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000333241 rs374027926 RCV001358546 CA9188297 |
463 | E>A | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_065965 rs199473691 CA259621 |
490 | D>EY | HSN1E; unstable protein with decreased enzymatic activity and impaired heterochromatin binding ability after the S phase [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA403936468 rs1599366542 RCV000789094 |
491 | P>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_065966 RCV000022529 CA259618 RCV000236669 rs199473690 |
495 | Y>C | Hereditary sensory neuropathy-deafness-dementia syndrome HSN1E; unstable protein with decreased enzymatic activity and impaired heterochromatin binding ability after the S phase [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000789095 rs1599366474 |
505 | K>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000789096 CA403935092 rs1599366076 |
553 | H>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397509392 RCV000043632 VAR_070055 CA143863 RCV001092943 |
554 | A>V | ADCADN Autosomal dominant cerebellar ataxia, deafness and narcolepsy Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (adcadn) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA143866 rs397509393 VAR_070056 RCV000043633 |
589 | G>A | ADCADN Autosomal dominant cerebellar ataxia, deafness and narcolepsy Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (adcadn) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_070057 rs397509391 RCV000043631 CA143860 |
590 | V>F | ADCADN Autosomal dominant cerebellar ataxia, deafness and narcolepsy Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (adcadn) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2038416963 RCV001254069 |
592 | L>R | Autosomal dominant cerebellar ataxia, deafness and narcolepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781764761 CA9188162 RCV000694070 |
645 | E>D | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000649365 CA403933038 rs1555691311 |
657 | E>G | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693098 CA403932132 rs1568232544 |
661 | Q>R | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA403931822 RCV000706160 rs1568232526 |
674 | V>I | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774333932 CA9188132 RCV000696146 |
687 | Q>R | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9188131 rs766157757 RCV000707569 |
689 | R>W | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000335290 CA9188108 rs762172122 |
738 | V>I | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000236469 CA9188081 rs142562681 RCV001854878 |
756 | T>N | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA403929564 rs1223065154 RCV000551197 |
777 | A>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555690511 CA403929504 RCV000535098 |
779 | V>I | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555690467 RCV000649366 CA403929025 |
809 | S>L | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746143694 CA9187974 RCV000695162 RCV000235606 |
881 | K>E | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057518774 RCV000415217 CA16043546 |
890 | F>L | Cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs150863675 RCV000389896 RCV000549552 CA9187945 |
894 | V>L | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000509183 CA9187938 rs767511749 |
915 | E>K | DNMT1-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs910412179 RCV000649359 CA305225900 |
916 | D>N | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9187934 RCV000332650 rs763321599 |
920 | R>Q | Dementia, Deafness, and Sensory Neuropathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777416084 CA9187924 RCV000521081 RCV000687016 |
930 | G>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2038202226 RCV001257292 |
937 | D>G | Pituitary stalk interruption syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9187895 RCV000695923 rs148038464 RCV000427007 |
956 | V>M | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2089651800 RCV001859188 RCV001197061 |
958 | R>C | Hereditary sensory neuropathy-deafness-dementia syndrome Autosomal dominant cerebellar ataxia, deafness and narcolepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403976002 rs1568226455 RCV000701509 |
960 | R>W | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854753 CA10577586 rs876661227 RCV000218242 |
995 | R>W | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs376854079 CA9187876 RCV001127316 |
996 | I>M | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745780816 RCV001197857 |
998 | E>D | Autosomal dominant cerebellar ataxia, deafness and narcolepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9187867 RCV001224301 rs144533539 |
1017 | R>W | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859661 RCV000279535 CA9187811 rs779489678 |
1059 | R>H | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9187806 rs560179619 RCV000703793 RCV000414456 |
1062 | V>M | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9187800 RCV000538884 rs776461147 |
1072 | V>I | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA403974695 rs377078524 RCV000688870 |
1082 | R>H | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs755865204 RCV000381513 CA10648143 |
1099 | P>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs150331990 RCV000625704 RCV000235537 CA9187773 |
1102 | H>R | Beckwith-Wiedemann syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000735392 rs1202584286 CA403974218 |
1105 | S>I | Choreoathetosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs151305495 CA9187739 RCV000694898 RCV000488960 |
1157 | Q>H | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1255153711 CA403973168 RCV001124225 |
1178 | R>W | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000625706 rs757460628 CA9187695 COSM990437 |
1207 | R>H | Beckwith-Wiedemann syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774073234 CA9187659 RCV000698993 |
1261 | R>Q | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs755492225 RCV000692836 CA9187652 |
1285 | R>C | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857804 RCV000236975 CA9187614 rs766051225 |
1318 | A>V | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000699044 CA9187567 rs757243017 |
1378 | R>Q | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886054127 RCV000312518 CA10652170 |
1386 | I>F | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000699651 CA403970303 rs1568220739 |
1390 | G>R | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766558026 CA9187559 RCV001235465 |
1396 | F>L | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374047326 CA9187558 RCV001853649 RCV000520107 |
1403 | A>T | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1599341718 RCV000995755 CA403969934 |
1417 | M>T | Autosomal dominant cerebellar ataxia, deafness and narcolepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1255037718 CA403969815 RCV000649352 |
1427 | H>N | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001858843 RCV000996734 rs1599341541 CA403969637 |
1442 | I>V | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001281565 RCV001871639 rs754833277 CA9187523 |
1449 | G>S | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000649361 rs765347113 CA9187518 |
1460 | H>R | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857998 RCV000520613 rs147984942 CA9187514 |
1466 | R>C | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs781301028 RCV000548151 CA9187508 |
1479 | V>M | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9187488 rs768764350 RCV001336230 |
1482 | G>S | Autosomal dominant cerebellar ataxia, deafness and narcolepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA403968238 rs1555687655 RCV000660480 |
1530 | P>A | Autosomal dominant cerebellar ataxia, deafness and narcolepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568218498 RCV000699020 CA403967993 |
1564 | R>Q | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688812 rs1568218491 CA403967988 |
1565 | L>F | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA403967343 rs1568217087 RCV000700930 |
1591 | E>K | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA305217346 rs948663724 RCV001228730 COSM1680633 |
1601 | R>* | large_intestine Hereditary sensory neuropathy-deafness-dementia syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000344075 CA9187354 rs147118268 |
1616 | D>H | Hereditary sensory neuropathy-deafness-dementia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs763647098 CA9188888 |
2 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1248298976 CA403950280 |
2 | P>R | No |
ClinGen TOPMed |
|
|
rs760288360 CA9188887 |
3 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487433053 CA403950261 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs1599417000 CA403950251 |
7 | P>L | No |
ClinGen Ensembl |
|
|
CA9188885 rs766984573 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs994411260 CA305193780 |
8 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1217509888 CA403950248 |
8 | A>S | No |
ClinGen gnomAD |
|
|
CA9188884 rs759577079 |
9 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1269997956 CA403950241 |
10 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403950233 rs1216341078 |
11 | P>S | No |
ClinGen gnomAD |
|
|
rs1170521928 CA403950228 |
12 | T>A | No |
ClinGen TOPMed |
|
|
CA9188881 rs762812098 |
13 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1348019056 CA403950222 |
13 | L>Q | No |
ClinGen gnomAD |
|
|
CA403950210 rs1395421881 |
15 | V>A | No |
ClinGen gnomAD |
|
|
CA403950212 rs769897113 |
15 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188879 rs769897113 |
15 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476955893 CA403950203 |
16 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403950204 rs1476955893 |
16 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1324769959 CA403950206 |
16 | P>S | No |
ClinGen TOPMed |
|
|
rs768745074 CA9188876 |
17 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000414738 CA9188875 rs747559452 |
19 | S>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA403950173 rs1224343919 |
22 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403950166 rs1257821053 |
23 | D>N | No |
ClinGen gnomAD |
|
|
rs1271779036 CA403950158 |
24 | V>I | No |
ClinGen TOPMed |
|
|
CA403950151 rs1206120198 |
25 | R>C | No |
ClinGen gnomAD |
|
|
CA403950144 rs1340824034 |
26 | R>K | No |
ClinGen TOPMed |
|
|
CA9188873 rs753721329 |
27 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374817622 CA9188846 |
33 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751109006 CA9188845 |
35 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1379799242 CA403948148 |
38 | E>K | No |
ClinGen gnomAD |
|
|
rs1218241317 CA403947348 |
41 | C>R | No |
ClinGen gnomAD |
|
|
CA9188824 rs779730617 |
41 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA403947324 rs1264838175 |
43 | K>R | No |
ClinGen gnomAD |
|
|
rs1242559756 CA403947317 |
44 | E>K | No |
ClinGen gnomAD |
|
|
CA9188823 rs757938210 |
45 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1234060339 CA403947288 |
46 | L>F | No |
ClinGen gnomAD |
|
|
rs1401965330 CA403947231 |
51 | E>D | No |
ClinGen gnomAD |
|
|
CA9188822 rs755995375 COSM990466 |
51 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1361282395 CA403947203 |
54 | Q>* | No |
ClinGen gnomAD |
|
|
CA9188821 rs375585911 |
55 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403947138 rs1351910032 |
59 | N>K | No |
ClinGen gnomAD |
|
|
CA9188820 rs753673660 |
69 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290655 rs61750053 |
69 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403947028 rs61750053 |
69 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403947020 rs1279416770 |
70 | K>T | No |
ClinGen TOPMed |
|
|
CA403947011 rs1477841278 |
71 | E>G | No |
ClinGen gnomAD |
|
|
CA403946972 rs1206145138 |
75 | E>K | No |
ClinGen TOPMed |
|
|
rs984728792 CA305185046 |
77 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305185047 rs746687493 |
77 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305185043 rs984728792 |
77 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs953187775 COSM180526 CA305185039 |
87 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1456240920 CA403946800 |
88 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779818604 CA9188807 |
90 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403946734 rs1268674999 |
91 | S>F | No |
ClinGen Ensembl |
|
|
CA9188804 rs778222019 |
94 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA403946647 rs1338494594 |
96 | A>P | No |
ClinGen TOPMed |
|
|
rs753670606 CA9188802 |
97 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188800 rs755873606 |
98 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752966527 CA9188799 |
100 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1039555172 CA305185009 |
102 | E>Q | No |
ClinGen TOPMed |
|
|
CA403946521 rs1170262960 |
104 | N>D | No |
ClinGen gnomAD |
|
|
rs751662619 CA9188796 |
106 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157913728 CA403946430 |
109 | N>D | No |
ClinGen gnomAD |
|
|
rs770318428 CA9188793 |
111 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA305185005 rs906790753 |
111 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9188791 rs762241565 |
113 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9188790 rs554894511 RCV000235913 |
114 | R>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs745455817 CA9188788 |
118 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188787 rs149362098 |
118 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403946320 rs149362098 |
118 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9188785 rs146516082 |
119 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188783 rs373923585 |
119 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9188784 rs777666240 |
119 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397430053 CA403946293 |
121 | G>E | No |
ClinGen gnomAD |
|
|
CA403946299 rs1331733943 |
121 | G>R | No |
ClinGen gnomAD |
|
|
CA9188781 rs780782457 |
122 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1085307725 CA403946273 RCV000490029 |
123 | A>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1417767085 CA403946259 |
125 | A>T | No |
ClinGen gnomAD |
|
|
CA9188779 rs751681312 |
126 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs146601335 CA403946224 |
128 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425787169 CA403946219 |
128 | P>L | No |
ClinGen gnomAD |
|
|
CA403946220 rs1425787169 |
128 | P>R | No |
ClinGen gnomAD |
|
|
rs1085307715 CA403946216 |
129 | P>A | No |
ClinGen gnomAD |
|
|
CA9188773 rs370207020 |
129 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9188772 rs370207020 |
129 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000489739 CA403946214 rs1085307715 |
129 | P>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs748783652 CA9188767 |
132 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs773200699 CA9188766 |
133 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361938846 CA403946156 |
135 | P>H | No |
ClinGen gnomAD |
|
|
CA9188765 rs769726219 |
135 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs138841970 CA9188763 |
136 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9188761 rs775139340 |
136 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188760 rs377146699 |
137 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1414937646 CA403946101 |
141 | S>R | No |
ClinGen TOPMed |
|
|
CA403946083 rs1193001884 |
143 | S>A | No |
ClinGen gnomAD |
|
|
rs765353997 CA9188756 |
144 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403946058 rs1292830551 |
145 | G>A | No |
ClinGen TOPMed |
|
|
CA305184905 rs1140470 |
147 | A>G | No |
ClinGen Ensembl |
|
|
rs754359114 CA9188754 |
147 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9188753 rs764561233 |
149 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305184897 rs764561233 |
149 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188706 rs756038357 |
150 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403945208 rs1327078717 |
151 | P>T | No |
ClinGen gnomAD |
|
|
rs1377690366 CA403945173 |
153 | P>S | No |
ClinGen TOPMed |
|
|
rs978575291 CA305181281 |
155 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403945132 rs1462015831 |
156 | R>G | No |
ClinGen gnomAD |
|
|
CA403945130 rs1334578298 |
156 | R>K | No |
ClinGen TOPMed |
|
|
CA9188704 rs374440818 |
160 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403944830 rs1375806732 |
174 | G>S | No |
ClinGen TOPMed |
|
|
rs62621089 CA9188688 |
176 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305180489 rs900075322 |
178 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1476219241 CA403944421 |
180 | P>R | No |
ClinGen TOPMed |
|
|
rs1208887534 CA403944381 |
186 | R>G | No |
ClinGen gnomAD |
|
|
CA9188686 rs769876242 |
186 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9188685 rs748641297 |
187 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9188684 COSM1390036 rs781646588 RCV000728320 |
189 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1281646304 CA403944357 |
190 | D>N | No |
ClinGen gnomAD |
|
|
CA9188682 rs751913403 |
193 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188683 rs751913403 |
193 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188680 rs756886439 |
198 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA403944279 rs1599390292 |
200 | Q>R | No |
ClinGen Ensembl |
|
|
rs1568249130 CA403944198 |
201 | D>G | No |
ClinGen Ensembl |
|
|
rs1474694064 CA403944183 |
202 | E>G | No |
ClinGen gnomAD |
|
|
rs1244292821 CA403944157 |
204 | R>K | No |
ClinGen gnomAD |
|
|
rs1194542262 CA403944147 |
205 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403944145 rs747469397 |
205 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs747469397 CA9188662 |
205 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs780431940 CA9188661 |
207 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188660 rs758761731 |
209 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777469378 CA9188658 |
212 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9188635 rs568861011 |
215 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374856119 CA305179733 |
216 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9188631 rs769029526 |
219 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319952912 CA403943537 |
221 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs926180987 CA305179728 |
222 | P>L | No |
ClinGen Ensembl |
|
|
rs762056108 CA9188630 |
222 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764212584 CA9188628 |
223 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305179725 rs992035736 |
225 | A>G | No |
ClinGen TOPMed |
|
|
CA9188626 rs775928642 |
227 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA403943470 rs1211520360 |
229 | T>A | No |
ClinGen gnomAD |
|
|
CA9188624 rs143598088 RCV000597356 |
229 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9188623 rs201749864 |
230 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370064676 CA305179720 |
231 | T>N | No |
ClinGen ESP |
|
|
rs528992391 CA9188620 |
233 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1353668988 CA403943442 |
234 | E>K | No |
ClinGen gnomAD |
|
|
rs768339415 CA9188619 |
235 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403943406 rs1435887591 |
238 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403942823 rs1163672521 |
241 | E>G | No |
ClinGen gnomAD |
|
|
rs746582737 CA9188597 |
242 | E>G | No |
ClinGen ExAC TOPMed |
|
|
CA403942772 rs1459602995 |
245 | L>R | No |
ClinGen gnomAD |
|
|
rs1419372864 COSM1204291 CA403942766 |
246 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA403942675 rs1391845033 |
251 | E>V | No |
ClinGen TOPMed |
|
|
CA403942656 rs779634956 |
252 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232498004 CA403942219 |
253 | T>A | No |
ClinGen gnomAD |
|
|
rs755835618 CA9188565 |
260 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA305178413 rs372129479 |
260 | E>V | No |
ClinGen ESP |
|
|
CA403942126 rs1390469147 |
261 | E>K | No |
ClinGen gnomAD |
|
|
CA403942117 rs1393687942 |
261 | E>V | No |
ClinGen gnomAD |
|
|
rs1430311136 CA403942107 |
262 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9188562 rs781257220 |
263 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA403942091 rs1419316960 |
264 | R>G | No |
ClinGen TOPMed |
|
|
rs1436304759 CA403942063 |
266 | A>S | No |
ClinGen gnomAD |
|
|
CA403942062 rs1395459443 |
266 | A>V | No |
ClinGen gnomAD |
|
|
CA403942058 rs1199842664 |
267 | R>G | No |
ClinGen gnomAD |
|
|
rs750916721 CA9188557 |
273 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200024502 CA9188556 |
274 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169597458 CA403941967 |
275 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305178411 rs1018990466 |
276 | E>D | No |
ClinGen TOPMed |
|
|
CA403941906 rs1568243323 |
280 | E>G | No |
ClinGen Ensembl |
|
|
rs891770194 CA305178410 |
280 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201025441 CA9188552 |
281 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759143980 CA9188534 |
284 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751183319 CA9188533 |
285 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765923835 CA9188532 |
285 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs762434544 CA9188531 |
286 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA403941012 rs1301997168 |
287 | R>G | No |
ClinGen gnomAD |
|
|
CA403941000 rs1599376406 |
288 | S>R | No |
ClinGen Ensembl |
|
|
CA9188529 rs368346471 |
289 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9188528 rs761747950 |
290 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs550478064 CA9188526 |
292 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs61758430 CA9188524 |
293 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9188506 rs559861049 |
294 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1406374567 CA403940906 |
295 | A>D | No |
ClinGen TOPMed |
|
|
rs1599375718 CA403940911 |
295 | A>S | No |
ClinGen Ensembl |
|
|
CA305174755 rs544747966 COSM3362627 |
296 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA403940885 rs1372902099 |
297 | R>W | No |
ClinGen gnomAD |
|
|
rs1434425247 CA403940878 |
298 | R>G | No |
ClinGen gnomAD |
|
|
rs200601847 CA9188503 |
300 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478185698 RCV000757176 CA403940822 |
301 | E>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA403940827 rs1478185698 |
301 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1231795266 CA403940808 |
302 | K>R | No |
ClinGen gnomAD |
|
|
CA403940788 rs1179101598 |
303 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1483769228 CA403940777 |
305 | E>K | No |
ClinGen gnomAD |
|
|
CA403940760 rs1275211463 |
306 | K>E | No |
ClinGen gnomAD |
|
|
rs1210097019 CA403940706 |
309 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA305174741 rs2228612 |
311 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305174739 rs2228612 |
311 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs996476593 CA305174737 |
313 | D>Y | No |
ClinGen Ensembl |
|
|
CA403940651 rs1279218298 |
314 | E>D | No |
ClinGen gnomAD |
|
|
CA403940629 rs1440048632 |
316 | D>G | No |
ClinGen gnomAD |
|
|
CA9188497 rs781477930 |
317 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188498 rs748515801 |
317 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188496 rs200531080 |
319 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403940354 rs1361695976 |
325 | R>C | No |
ClinGen gnomAD |
|
|
rs763026348 CA9188444 |
326 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs773301158 CA9188443 |
327 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779486758 CA305173881 |
329 | P>H | No |
ClinGen Ensembl |
|
|
CA403940309 rs1459359320 |
330 | K>E | No |
ClinGen gnomAD |
|
|
rs762344471 CA9188441 |
330 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs370592431 CA9188440 |
332 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403940191 rs775954754 |
333 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775954754 CA9188415 |
333 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749001465 CA305173754 |
335 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs749001465 CA9188413 |
335 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1390264889 CA403940123 |
337 | M>I | No |
ClinGen gnomAD |
|
|
RCV000481913 rs544428951 CA9188411 |
337 | M>T | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs747668607 CA9188410 |
339 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188408 rs201945078 |
339 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403940095 rs529074384 |
340 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758106190 CA9188405 |
341 | K>Q | No |
ClinGen ExAC |
|
|
rs750700551 CA9188404 |
341 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9188403 rs765440005 |
342 | T>K | No |
ClinGen ExAC |
|
|
CA403940073 rs1464709973 |
343 | V>I | No |
ClinGen gnomAD |
|
|
CA9188402 rs761967857 |
345 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1599371696 CA403939899 |
349 | H>P | No |
ClinGen Ensembl |
|
|
rs1333537251 CA403939881 |
350 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756138932 CA9188380 |
351 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326232301 CA403939787 |
354 | I>S | No |
ClinGen TOPMed |
|
|
rs1294787183 CA403939698 |
358 | Q>H | No |
ClinGen TOPMed |
|
|
rs774875858 CA9188376 |
362 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs141562679 CA305173677 |
366 | K>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs776120784 CA403939448 |
372 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1161974493 CA403939442 |
372 | P>Q | No |
ClinGen gnomAD |
|
|
rs776120784 CA9188373 |
372 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1579211 CA9188355 rs142673915 |
383 | N>D | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA403939171 rs1599371457 |
383 | N>S | No |
ClinGen Ensembl |
|
|
CA305173627 rs966116269 |
385 | K>N | No |
ClinGen TOPMed |
|
|
rs1288550596 CA403939127 |
385 | K>R | No |
ClinGen TOPMed |
|
|
CA9188352 rs367727676 |
392 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305173615 rs867003508 |
400 | E>K | No |
ClinGen Ensembl |
|
|
rs777569395 CA9188347 |
411 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs181300723 CA305172874 |
416 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs758850158 CA9188323 |
417 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403938313 rs1555691714 RCV000658816 |
419 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA403938286 rs1181209213 |
423 | D>N | No |
ClinGen gnomAD |
|
|
COSM266403 CA9188316 rs751093624 |
432 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1345721072 CA403938164 |
433 | L>R | No |
ClinGen gnomAD |
|
|
rs762835601 CA9188314 |
434 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA403937962 rs1308265840 |
447 | P>S | No |
ClinGen gnomAD |
|
|
CA403937912 rs1599368104 |
449 | L>P | No |
ClinGen Ensembl |
|
|
CA403937298 rs1190635928 |
473 | E>K | No |
ClinGen gnomAD |
|
|
CA403937233 rs1487562713 |
475 | A>S | No |
ClinGen gnomAD |
|
|
CA9188295 rs750390469 |
477 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs376715649 CA305172796 |
477 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305172583 rs1038997060 |
482 | S>* | No |
ClinGen Ensembl |
|
|
rs1568235505 CA403937073 |
482 | S>A | No |
ClinGen Ensembl |
|
|
CA403937075 rs1568235505 |
482 | S>P | No |
ClinGen Ensembl |
|
|
rs1599366542 CA403936465 |
491 | P>L | No |
ClinGen Ensembl |
|
|
CA403936449 rs1568234863 |
492 | S>T | No |
ClinGen Ensembl |
|
|
CA403936407 rs561762200 |
494 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403936404 rs561762200 |
494 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA273057 rs199473692 |
495 | Y>H | No |
ClinGen Ensembl |
|
|
CA403936380 rs1064796687 |
496 | A>E | No |
ClinGen TOPMed |
|
|
CA9188274 rs753794138 |
496 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16620721 RCV000480106 rs1064796687 |
496 | A>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1405357614 CA403936353 |
497 | P>L | No |
ClinGen gnomAD |
|
|
CA9188272 rs760542365 |
499 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA403936286 rs1568234806 |
502 | M>V | No |
ClinGen Ensembl |
|
|
rs767797868 CA9188269 |
521 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA305172560 rs1037636262 |
522 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9188267 rs774523299 |
523 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000986203 CA403935776 rs1599366421 |
524 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA305172550 rs2228613 |
528 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403935564 rs1269876059 |
531 | I>F | No |
ClinGen gnomAD |
|
|
CA305172547 rs865891586 |
532 | E>K | No |
ClinGen Ensembl |
|
|
rs556213169 CA9188252 |
533 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368761660 CA9188250 |
534 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763014417 CA9188249 COSM1250488 |
534 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403935368 rs1359908894 |
538 | S>C | No |
ClinGen gnomAD |
|
|
rs1359908894 CA403935361 |
538 | S>Y | No |
ClinGen gnomAD |
|
|
CA403935343 rs1315979941 |
539 | G>V | No |
ClinGen gnomAD |
|
|
rs375474222 CA9188247 |
544 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403935258 rs1568234601 |
544 | R>H | No |
ClinGen Ensembl |
|
|
CA9188244 rs768869946 |
548 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9188240 rs748821501 |
552 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs397509392 CA9188238 |
554 | A>G | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (adcadn) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA305172489 COSM180520 rs1003447106 |
554 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000235546 rs879253953 |
565 | D>missing | No |
ClinVar dbSNP |
|
|
CA305172478 rs990456303 COSM1238710 |
566 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1227919940 CA403934779 |
568 | G>R | No |
ClinGen gnomAD |
|
|
rs959058396 CA305172468 |
569 | D>H | No |
ClinGen TOPMed |
|
|
rs1201469324 CA403934734 |
570 | S>T | No |
ClinGen TOPMed |
|
|
rs758553732 CA9188229 |
572 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1330611538 CA9188227 |
575 | I>V | No |
ClinGen gnomAD |
|
|
rs762421501 CA9188222 |
578 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760952579 CA9188219 |
579 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1420508762 CA403934530 |
581 | M>L | No |
ClinGen TOPMed |
|
|
CA9188216 rs775941265 |
581 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs397509393 CA403934386 |
589 | G>E | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (adcadn) [Ensembl] | No |
ClinGen gnomAD |
|
CA9188183 rs777870040 |
597 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1375945352 CA403934163 |
599 | A>T | No |
ClinGen gnomAD |
|
|
rs753235229 CA9188181 |
599 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751902349 RCV000523306 CA9188178 |
601 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs978864962 CA305172378 |
605 | R>S | No |
ClinGen Ensembl |
|
|
CA9188176 rs761476734 |
608 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs776032838 CA9188175 |
609 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs776032838 CA403933918 |
609 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162379853 CA403933833 |
613 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1568234212 CA403933819 |
614 | G>R | No |
ClinGen Ensembl |
|
|
rs1181179755 CA403933581 |
625 | Y>C | No |
ClinGen gnomAD |
|
|
CA403933428 rs1228041705 |
633 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403933430 rs1228041705 COSM1611472 |
633 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1357755689 CA403933329 |
639 | D>V | No |
ClinGen gnomAD |
|
|
CA403933324 rs1316701284 |
640 | D>N | No |
ClinGen gnomAD |
|
|
CA9188163 rs753326577 |
642 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs756254318 CA9188164 |
642 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403933203 rs1445415598 |
646 | N>D | No |
ClinGen TOPMed |
|
|
rs1016379814 CA305172353 |
646 | N>S | No |
ClinGen TOPMed |
|
|
rs1292456314 CA403933178 |
647 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs146467216 CA403933183 |
647 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9188159 rs146467216 |
647 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766722875 CA9188158 |
648 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761410935 CA9188157 |
650 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs753503985 CA9188156 |
650 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1359313210 CA403933122 |
651 | R>Q | No |
ClinGen gnomAD |
|
|
rs763570334 CA9188155 |
651 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9188154 rs760173233 |
654 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403933065 rs1486893166 |
655 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403932113 rs1599362269 |
662 | P>A | No |
ClinGen Ensembl |
|
|
CA9188135 rs752235220 |
668 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs767317190 CA305171793 |
676 | F>Y | No |
ClinGen Ensembl |
|
|
rs1307537239 CA403931718 |
679 | S>T | No |
ClinGen gnomAD |
|
|
rs1029809799 CA305171791 |
682 | S>C | No |
ClinGen gnomAD |
|
|
rs1385861545 CA403931542 |
687 | Q>E | No |
ClinGen Ensembl |
|
|
CA403931329 rs1336324296 |
693 | N>S | No |
ClinGen gnomAD |
|
|
rs368319266 CA9188118 |
702 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305171711 rs1037000664 |
703 | E>D | No |
ClinGen gnomAD |
|
|
rs375620967 CA305171708 |
705 | V>I | No |
ClinGen ESP |
|
|
CA9188117 rs752326785 |
706 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA403930989 rs1254979538 |
706 | D>N | No |
ClinGen gnomAD |
|
|
rs767075259 CA9188116 |
709 | I>F | No |
ClinGen ExAC |
|
|
CA403930903 rs1263023164 |
710 | P>S | No |
ClinGen TOPMed |
|
|
rs891162524 CA305171704 |
712 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9188115 rs754509457 |
713 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243261929 CA403930860 |
713 | P>S | No |
ClinGen gnomAD |
|
|
rs766357104 CA9188113 |
720 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA305171696 rs548322208 |
722 | K>Q | No |
ClinGen Ensembl |
|
|
rs910109905 CA305171689 |
729 | N>D | No |
ClinGen gnomAD |
|
|
CA403930480 rs1381758934 |
735 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764389789 CA9188088 |
741 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs760768778 CA9188087 |
743 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1224353267 CA403929970 |
743 | K>R | No |
ClinGen gnomAD |
|
|
CA403929909 rs1195515645 |
748 | K>Q | No |
ClinGen gnomAD |
|
|
CA9188084 rs760149381 |
751 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA403929867 rs1402672876 |
751 | C>Y | No |
ClinGen TOPMed |
|
|
rs1251285527 CA403929852 |
752 | I>T | No |
ClinGen gnomAD |
|
|
rs1272046307 CA403929859 |
752 | I>V | No |
ClinGen gnomAD |
|
|
rs573248196 CA305171233 |
754 | A>V | No |
ClinGen Ensembl |
|
|
CA403929804 rs1599360216 |
756 | T>P | No |
ClinGen Ensembl |
|
|
CA403929781 rs1346601061 |
758 | E>G | No |
ClinGen gnomAD |
|
|
CA403929787 rs1407084701 |
758 | E>K | No |
ClinGen gnomAD |
|
|
rs778066229 CA9188080 |
759 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403929775 rs778066229 |
759 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370056750 CA403929742 |
761 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330899035 CA403929738 |
762 | C>G | No |
ClinGen TOPMed |
|
|
rs1219579994 CA403929704 |
765 | V>L | No |
ClinGen TOPMed |
|
|
rs1313976937 CA403929634 |
770 | S>C | No |
ClinGen gnomAD |
|
|
rs865989923 CA305171219 |
770 | S>F | No |
ClinGen Ensembl |
|
|
rs1201583942 CA403929602 COSM1480507 |
773 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs113497353 CA305171216 |
774 | L>P | No |
ClinGen Ensembl |
|
|
CA403929583 rs1181332562 |
775 | Y>C | No |
ClinGen gnomAD |
|
|
rs899735320 CA305171146 |
780 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9188055 rs148987580 RCV000597645 COSM94140 |
780 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9188053 rs757300501 |
781 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9188052 rs757300501 |
781 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403929442 rs1244845928 |
785 | D>H | No |
ClinGen gnomAD |
|
|
rs1468958840 CA403929429 |
786 | S>R | No |
ClinGen gnomAD |
|
|
CA403929422 rs1379915323 |
786 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs988229673 CA305171137 |
794 | A>G | No |
ClinGen gnomAD |
|
|
rs1599359716 CA403929265 RCV000996736 |
795 | H>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1402220036 CA403929279 |
795 | H>Y | No |
ClinGen gnomAD |
|
|
rs373366822 CA9188046 |
799 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs183555527 CA9188040 |
806 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9188037 rs140993011 |
808 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403929005 rs1228333897 |
811 | P>L | No |
ClinGen gnomAD |
|
|
CA305171117 rs963570572 |
811 | P>S | No |
ClinGen TOPMed |
|
|
CA403928807 rs1345541911 |
823 | M>T | No |
ClinGen gnomAD |
|
|
CA9188031 rs747921118 |
830 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA403928627 rs1422521201 |
835 | I>V | No |
ClinGen gnomAD |
|
|
CA403928585 rs1363883264 |
837 | K>R | No |
ClinGen gnomAD |
|
|
rs1177086967 CA403928566 |
838 | A>V | No |
ClinGen TOPMed |
|
|
rs781003939 CA9188030 |
839 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868584117 CA305171111 |
840 | S>C | No |
ClinGen Ensembl |
|
|
rs751754286 CA9188028 |
841 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758465656 CA9188026 |
845 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA403926726 rs1176297175 |
849 | M>V | No |
ClinGen gnomAD |
|
|
RCV000414199 rs761717775 CA9187997 |
852 | E>K | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA9187996 rs538290672 |
853 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768517249 CA9187995 |
854 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs768517249 CA403926662 |
854 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9187993 rs779777304 |
856 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9187992 rs772216000 |
857 | G>E | No |
ClinGen ExAC |
|
|
rs571299133 CA9187991 |
858 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9187989 rs749258509 COSM1480506 |
859 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9187988 rs749258509 |
859 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753140952 CA9187985 |
860 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9187986 rs62621087 RCV000606678 |
860 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758032585 CA9187984 |
861 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1314966532 CA403926517 |
864 | F>L | No |
ClinGen gnomAD |
|
|
rs1314966532 CA403926520 |
864 | F>L | No |
ClinGen gnomAD |
|
|
rs1305123223 CA403926483 |
866 | Q>K | No |
ClinGen gnomAD |
|
|
CA9187982 rs750081202 |
866 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403926403 rs1336107599 |
870 | D>E | No |
ClinGen gnomAD |
|
|
rs367681882 CA305170981 |
870 | D>H | No |
ClinGen ESP |
|
|
rs1267732085 CA403926392 |
871 | Q>P | No |
ClinGen TOPMed |
|
|
rs569867388 CA9187980 |
873 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403926315 rs1303994790 |
874 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1160065459 CA403926251 |
878 | S>F | No |
ClinGen gnomAD |
|
|
rs771879227 CA9187975 |
879 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9187976 rs775305891 |
879 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1379893711 CA403926238 |
880 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000235408 rs201213597 CA9187973 |
882 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403926221 rs1599358475 |
882 | T>P | No |
ClinGen Ensembl |
|
|
CA403926213 rs1204551824 |
883 | Q>E | No |
ClinGen gnomAD |
|
|
CA403926202 rs530293931 |
883 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262319814 CA403926187 |
885 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1287452669 CA403926152 |
888 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9187946 rs768990499 |
892 | F>C | No |
ClinGen ExAC |
|
|
CA403976426 rs1460029697 |
895 | S>R | No |
ClinGen gnomAD |
|
|
CA305225946 rs745753378 |
898 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs756944531 CA9187943 |
898 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9187944 rs756944531 |
898 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9187942 rs753467933 |
901 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403976358 rs1360494258 |
906 | E>K | No |
ClinGen TOPMed |
|
|
CA305225931 rs973184667 |
909 | R>T | No |
ClinGen Ensembl |
|
|
rs777323413 CA9187941 |
911 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755625901 CA9187940 |
912 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1453506357 CA403976311 |
913 | Q>L | No |
ClinGen gnomAD |
|
|
CA305225872 rs550380640 |
920 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550380640 CA9187935 |
920 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403976259 rs1599355288 |
921 | V>G | No |
ClinGen Ensembl |
|
|
CA9187933 rs773559669 |
921 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9187931 rs762002107 |
922 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9187932 rs770079133 |
922 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1389160994 CA403976251 |
923 | Y>S | No |
ClinGen gnomAD |
|
|
rs747445212 CA9187928 |
925 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA403976227 rs1349231023 |
927 | T>A | No |
ClinGen TOPMed |
|
|
rs1302114385 CA403976213 |
929 | N>D | No |
ClinGen TOPMed |
|
|
CA9187925 rs777416084 |
930 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977832207 CA305225818 |
930 | G>V | No |
ClinGen TOPMed |
|
|
CA403976200 rs1174048074 |
931 | I>L | No |
ClinGen gnomAD |
|
|
CA403976196 rs1378414629 |
931 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403976199 rs1478243877 |
931 | I>N | No |
ClinGen gnomAD |
|
|
rs1568228059 CA403976182 |
934 | R>G | No |
ClinGen Ensembl |
|
|
rs1568228055 CA403976167 |
936 | G>A | No |
ClinGen Ensembl |
|
|
rs1181438211 CA403976165 |
937 | D>N | No |
ClinGen gnomAD |
|
|
CA9187923 rs755712065 |
939 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA403976127 rs1599355120 |
943 | P>A | No |
ClinGen Ensembl |
|
|
CA9187921 rs780533354 |
946 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA305225811 rs978444139 |
946 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs754990148 CA9187920 |
947 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1362626891 CA403976043 |
953 | S>C | No |
ClinGen gnomAD |
|
|
CA403976031 rs1328974927 |
955 | P>T | No |
ClinGen TOPMed |
|
|
rs750276897 CA9187894 |
960 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305223621 rs895501426 |
962 | E>G | No |
ClinGen Ensembl |
|
|
rs757550838 CA9187892 |
964 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9187891 rs753992945 |
965 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA403975972 rs1489509959 |
965 | D>N | No |
ClinGen gnomAD |
|
|
CA9187890 rs764301881 |
967 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000734012 rs760683699 CA9187889 |
968 | L>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA403975950 rs760683699 |
968 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056948381 CA305223603 |
969 | Y>H | No |
ClinGen Ensembl |
|
|
rs775590756 CA9187888 |
970 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760003805 CA9187886 |
976 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9187883 rs750245242 |
980 | I>R | No |
ClinGen ExAC |
|
|
rs747897637 CA9187880 |
989 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776149246 CA9187879 |
991 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746527645 CA9187877 |
992 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs746527645 COSM1204295 CA9187878 |
992 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA403975762 rs1167927296 |
996 | I>T | No |
ClinGen TOPMed |
|
|
CA9187875 rs758453625 |
997 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403975757 rs1330228268 |
997 | K>R | No |
ClinGen TOPMed |
|
|
rs745780816 CA9187874 |
998 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1199169323 CA403975735 |
1000 | F>S | No |
ClinGen gnomAD |
|
|
rs1487276325 CA403975718 |
1002 | P>L | No |
ClinGen gnomAD |
|
|
CA403975721 rs1196329826 |
1002 | P>S | No |
ClinGen gnomAD |
|
|
rs1248096623 CA403975706 |
1004 | K>T | No |
ClinGen gnomAD |
|
|
CA403975697 rs1221584713 |
1005 | S>T | No |
ClinGen gnomAD |
|
|
rs1256073808 CA403975685 |
1007 | G>S | No |
ClinGen gnomAD |
|
|
rs756998907 CA9187872 |
1008 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA305223560 rs866159764 |
1009 | P>L | No |
ClinGen Ensembl |
|
|
rs373940840 CA9187871 |
1010 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403975665 rs373940840 |
1010 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403975654 rs1233155491 |
1011 | E>D | No |
ClinGen TOPMed |
|
|
rs1282355438 CA403975648 |
1012 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9187870 rs764244867 |
1014 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9187866 rs199827346 |
1017 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599351896 CA403975610 |
1018 | V>G | No |
ClinGen Ensembl |
|
|
CA9187865 rs774833250 |
1019 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9187831 rs751674187 |
1031 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9187830 rs780153466 |
1031 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA403975508 rs751674187 |
1031 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758882865 CA9187829 |
1033 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350013741 CA403975441 |
1037 | A>G | No |
ClinGen TOPMed |
|
|
rs370786558 CA403975450 |
1037 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370786558 CA9187827 |
1037 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9187826 rs754199607 |
1039 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9187825 rs767308840 |
1040 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160158444 CA403975343 |
1043 | Y>C | No |
ClinGen gnomAD |
|
|
rs548883904 CA9187823 |
1046 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548883904 CA9187824 |
1046 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762862182 CA9187821 |
1049 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs187394074 CA9187819 RCV000592659 |
1050 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA403975205 rs1478047497 |
1051 | V>G | No |
ClinGen TOPMed |
|
|
rs776374384 CA9187818 |
1053 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426702144 CA403975156 |
1054 | K>R | No |
ClinGen TOPMed |
|
|
rs747215182 CA9187815 |
1055 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA403975117 rs1217143527 |
1057 | Q>E | No |
ClinGen gnomAD |
|
|
CA9187812 rs140852137 |
1059 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757791181 CA9187810 |
1061 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA403974947 rs1599349283 |
1067 | D>A | No |
ClinGen Ensembl |
|
|
CA403974932 rs1276680499 |
1068 | L>V | No |
ClinGen TOPMed |
|
|
CA9187801 rs776461147 |
1072 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403974832 rs1194144103 |
1074 | V>L | No |
ClinGen gnomAD |
|
|
CA403974810 rs1599349224 |
1075 | Y>S | No |
ClinGen Ensembl |
|
|
CA403974779 rs370075258 |
1077 | M>K | No |
ClinGen ESP gnomAD |
|
|
CA403974776 rs370075258 |
1077 | M>R | No |
ClinGen ESP gnomAD |
|
|
CA305222124 rs370075258 |
1077 | M>T | No |
ClinGen ESP gnomAD |
|
|
rs768431034 CA9187799 |
1077 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3821832 rs950686369 CA305222116 |
1078 | G>C | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9187798 rs747265409 RCV000420493 |
1079 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1316623288 CA403974698 |
1082 | R>C | No |
ClinGen gnomAD |
|
|
CA305222102 rs377078524 |
1082 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403974371 rs1479104782 |
1096 | F>L | No |
ClinGen gnomAD |
|
|
CA9187777 rs759653796 |
1099 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs534263445 COSM710263 CA403974284 |
1101 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs150331990 CA9187774 |
1102 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9187775 rs374676749 |
1102 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305221370 rs200950656 |
1104 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA403974222 rs1202584286 |
1105 | S>N | No |
ClinGen gnomAD |
|
|
rs933543639 CA305221369 |
1108 | N>S | No |
ClinGen Ensembl |
|
|
rs1568224108 CA403974113 |
1112 | G>C | No |
ClinGen Ensembl |
|
|
CA403974053 rs1284939504 |
1116 | G>R | No |
ClinGen gnomAD |
|
|
rs770370709 CA9187755 |
1118 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305221254 rs1049058944 |
1118 | G>S | No |
ClinGen TOPMed |
|
|
rs201308454 CA9187751 RCV000732184 |
1122 | S>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs768902636 CA9187752 |
1122 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1011300495 CA305221244 |
1123 | Q>K | No |
ClinGen Ensembl |
|
|
CA305221243 rs920360352 |
1125 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs375976847 CA9187750 |
1127 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305221237 rs762819722 |
1129 | E>K | No |
ClinGen Ensembl |
|
|
CA403973498 rs1412256768 |
1130 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9187746 rs756132614 |
1132 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545615552 CA9187747 |
1132 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545615552 CA403973483 |
1132 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3736188 rs752571105 CA9187745 |
1135 | K>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767421908 CA9187744 |
1140 | R>Q | No |
ClinGen ExAC |
|
|
rs754742754 CA9187743 |
1144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1599347539 CA403973367 |
1151 | L>V | No |
ClinGen Ensembl |
|
|
CA403973276 rs1345421531 |
1162 | D>E | No |
ClinGen TOPMed |
|
|
rs776723837 CA9187711 |
1162 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs764541314 CA9187710 |
1163 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412363660 CA403973255 |
1166 | A>T | No |
ClinGen gnomAD |
|
|
CA403973204 rs1193652618 |
1172 | P>R | No |
ClinGen gnomAD |
|
|
CA9187707 rs772419584 |
1173 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA403973179 rs1434985283 |
1176 | A>V | No |
ClinGen TOPMed |
|
|
CA9187702 rs780717834 |
1183 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367702161 CA403973121 |
1185 | T>I | No |
ClinGen Ensembl |
|
|
CA9187700 rs746926863 |
1197 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1223800609 CA403973020 RCV000911747 |
1200 | A>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs780063940 CA9187699 |
1203 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA403973001 rs201497993 |
1203 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA305220804 rs201497993 |
1203 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs780063940 CA403973004 |
1203 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9187697 rs142648642 |
1204 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403972992 rs1599346569 |
1205 | N>T | No |
ClinGen Ensembl |
|
|
rs1599346562 CA403972986 |
1206 | S>P | No |
ClinGen Ensembl |
|
|
rs779029407 CA9187696 |
1207 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403972975 rs1255396898 |
1208 | G>D | No |
ClinGen gnomAD |
|
|
CA9187693 rs764137405 |
1208 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9187691 rs753205659 |
1210 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403972963 rs1269778997 |
1210 | R>W | No |
ClinGen gnomAD |
|
|
CA9187690 rs767953016 |
1212 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759915904 CA9187689 |
1215 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA305220764 rs145657360 |
1216 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353293786 CA403972929 |
1216 | D>N | No |
ClinGen gnomAD |
|
|
rs1312709316 CA403972886 |
1222 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9187684 rs768280180 |
1236 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA403972775 rs1290055474 COSM280552 |
1237 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9187683 rs746456488 |
1238 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs780156714 CA9187682 |
1238 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403972771 rs780156714 |
1238 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000490070 rs1085307800 CA403972761 |
1240 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1408962462 CA403972707 |
1248 | V>M | No |
ClinGen TOPMed |
|
|
CA403972698 rs1488049319 |
1249 | V>A | No |
ClinGen gnomAD |
|
|
CA403972637 rs1168306248 |
1256 | D>N | No |
ClinGen gnomAD |
|
|
rs1296808828 CA403972596 |
1259 | R>W | No |
ClinGen TOPMed |
|
|
CA305220528 rs1052868434 |
1261 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs535946725 CA305220517 |
1262 | F>L | No |
ClinGen Ensembl |
|
|
rs1178617228 CA403972543 |
1264 | L>I | No |
ClinGen gnomAD |
|
|
CA403972515 rs1343782138 |
1266 | E>D | No |
ClinGen gnomAD |
|
|
rs1235846614 CA403972499 |
1268 | V>I | No |
ClinGen gnomAD |
|
|
rs748262646 CA9187654 |
1276 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599345727 CA403972322 |
1283 | T>P | No |
ClinGen Ensembl |
|
|
rs1010743136 CA305220484 |
1285 | R>H | No |
ClinGen TOPMed |
|
|
rs200312526 CA9187648 |
1289 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM180510 rs564106859 CA9187647 |
1289 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA403972190 rs1182970957 |
1294 | C>G | No |
ClinGen gnomAD |
|
|
rs1442277728 CA403972186 |
1294 | C>S | No |
ClinGen gnomAD |
|
|
rs767041788 CA9187644 |
1297 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1237339384 CA403972121 |
1300 | Q>* | No |
ClinGen gnomAD |
|
|
rs1197552228 CA403971329 |
1305 | G>S | No |
ClinGen gnomAD |
|
|
CA305219808 rs1044312254 |
1315 | I>M | No |
ClinGen Ensembl |
|
|
CA9187615 rs779967013 |
1318 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403971184 rs779967013 |
1318 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779490963 CA403971168 |
1319 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779490963 CA9187612 |
1319 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA403971160 rs1307854066 |
1320 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403971162 rs1435919291 |
1320 | P>S | No |
ClinGen gnomAD |
|
|
CA9187611 rs757703243 |
1321 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1328566140 CA403971144 |
1322 | E>K | No |
ClinGen gnomAD |
|
|
rs780926114 CA9187609 |
1323 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9187610 rs754203974 |
1323 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA403971098 rs1411224615 |
1326 | L>V | No |
ClinGen gnomAD |
|
|
rs867399027 CA305219777 |
1328 | P>L | No |
ClinGen Ensembl |
|
|
CA9187606 rs765793648 |
1335 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA403970978 rs1254786385 |
1336 | P>L | No |
ClinGen gnomAD |
|
|
CA9187604 rs141791913 |
1338 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9187603 rs765098980 |
1343 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403970897 rs1233616787 |
1344 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000996735 CA403970849 rs1369475967 |
1348 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA403970797 rs1164503433 |
1353 | N>H | No |
ClinGen Ensembl |
|
|
rs1265788604 CA403970790 |
1353 | N>S | No |
ClinGen TOPMed |
|
|
CA305219741 rs201167482 |
1354 | I>L | No |
ClinGen gnomAD |
|
|
CA9187601 rs776250179 |
1356 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs774538556 CA9187577 |
1358 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1259943763 CA403970660 |
1359 | S>L | No |
ClinGen gnomAD |
|
|
rs771611874 CA9187576 |
1359 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA403970561 rs1568220903 |
1368 | R>* | No |
ClinGen Ensembl |
|
|
CA403970558 rs748486662 |
1368 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM171794 rs748486662 CA9187572 |
1368 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA403970503 rs1292991293 |
1372 | S>F | No |
ClinGen gnomAD |
|
|
CA403970500 rs1356963122 |
1373 | D>N | No |
ClinGen gnomAD |
|
|
rs1382078791 CA403970469 COSM3959464 |
1375 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1382078791 CA403970470 |
1375 | P>R | No |
ClinGen gnomAD |
|
|
CA403970458 rs1454184730 |
1376 | E>G | No |
ClinGen gnomAD |
|
|
rs1599343003 CA403970446 |
1377 | V>G | No |
ClinGen Ensembl |
|
|
RCV000757171 rs375225009 CA9187566 COSM77600 |
1382 | S>L | lung ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs367897930 CA305219287 |
1391 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA9187561 rs759807018 |
1393 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1226189469 CA403970233 |
1395 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403970228 rs1324326054 |
1396 | F>S | No |
ClinGen gnomAD |
|
|
rs1442803580 CA403970193 |
1401 | R>Q | No |
ClinGen gnomAD |
|
|
rs1323856557 CA403970194 |
1401 | R>W | No |
ClinGen gnomAD |
|
|
CA403970187 rs1241729369 |
1402 | G>D | No |
ClinGen TOPMed |
|
|
CA403970183 rs374047326 |
1403 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9187557 rs770284928 |
1404 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9187556 rs770284928 |
1404 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1599342754 CA403970164 |
1405 | Y>S | No |
ClinGen Ensembl |
|
|
rs1599342743 CA403970143 |
1406 | Q>H | No |
ClinGen Ensembl |
|
|
rs1450243310 CA403970096 |
1411 | D>N | No |
ClinGen gnomAD |
|
|
CA403970069 rs1252893841 |
1413 | I>V | No |
ClinGen gnomAD |
|
|
rs1386402643 CA403970057 |
1414 | C>S | No |
ClinGen TOPMed |
|
|
CA403969955 rs1375081003 |
1416 | D>N | No |
ClinGen gnomAD |
|
|
CA305218980 rs1031456207 |
1417 | M>V | No |
ClinGen Ensembl |
|
|
CA403969867 rs1158543755 |
1422 | A>T | No |
ClinGen gnomAD |
|
|
rs555878888 CA305218966 |
1423 | A>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1365871222 CA403969849 |
1424 | R>C | No |
ClinGen gnomAD |
|
|
CA403969845 rs1183358759 |
1424 | R>H | No |
ClinGen gnomAD |
|
|
CA9187532 rs139918621 |
1426 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187348790 CA403969823 |
1426 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs139918621 CA9187531 |
1426 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403969783 rs1442538027 |
1429 | P>L | No |
ClinGen gnomAD |
|
|
CA403969767 rs1283448599 |
1431 | A>T | No |
ClinGen gnomAD |
|
|
CA9187530 rs774010132 |
1432 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9187529 rs770571074 |
1433 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA403969739 rs1599341597 |
1434 | S>A | No |
ClinGen Ensembl |
|
|
CA403969698 rs1488470434 COSM1166698 |
1437 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA403969609 rs1341093379 |
1444 | V>A | No |
ClinGen gnomAD |
|
|
rs1341093379 CA403969607 |
1444 | V>G | No |
ClinGen gnomAD |
|
|
CA305218945 rs769675693 |
1445 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748089711 CA9187525 |
1445 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9187526 rs769675693 |
1445 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403969578 rs1387794444 |
1447 | S>L | No |
ClinGen gnomAD |
|
|
CA403969547 rs1415174324 |
1450 | T>I | No |
ClinGen gnomAD |
|
|
CA403969533 rs1189691665 |
1451 | M>I | No |
ClinGen gnomAD |
|
|
CA9187521 rs780170131 |
1456 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1599341392 CA403969470 |
1457 | Y>D | No |
ClinGen Ensembl |
|
|
CA9187519 rs750520436 |
1458 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA403969455 rs1361579493 |
1458 | T>I | No |
ClinGen gnomAD |
|
|
CA403969461 rs750520436 |
1458 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1274835966 CA403969439 |
1459 | H>Q | No |
ClinGen gnomAD |
|
|
CA403969443 rs1265513327 |
1459 | H>R | No |
ClinGen gnomAD |
|
|
rs142647321 CA244873 |
1460 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755902999 CA305218906 |
1462 | R>S | No |
ClinGen TOPMed |
|
|
CA9187516 rs764531629 |
1464 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1368186167 CA403969363 |
1465 | G>S | No |
ClinGen TOPMed |
|
|
CA9187513 rs770535972 |
1466 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1167554550 CA403969335 |
1467 | S>I | No |
ClinGen gnomAD |
|
|
CA403969326 rs1568219726 |
1468 | S>G | No |
ClinGen Ensembl |
|
|
rs1405528301 CA403969320 |
1468 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1405528301 CA403969323 |
1468 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1363710824 CA403969309 |
1469 | S>C | No |
ClinGen TOPMed |
|
|
CA403969288 rs1599341193 |
1471 | A>G | No |
ClinGen Ensembl |
|
|
CA9187512 rs536916632 |
1471 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866729887 CA305218871 |
1472 | L>F | No |
ClinGen gnomAD |
|
|
CA9187511 rs772660711 |
1472 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA305218864 rs745789285 |
1473 | R>H | No |
ClinGen TOPMed |
|
|
rs769347864 CA9187510 |
1477 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768672451 CA9187507 |
1480 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761440391 CA9187490 |
1481 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746932608 CA9187487 |
1482 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236455214 CA403968545 |
1486 | D>H | No |
ClinGen TOPMed |
|
|
RCV000996733 CA403968536 rs1599340055 |
1487 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9187481 rs749413587 |
1488 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1418458019 CA403968528 |
1488 | A>V | No |
ClinGen gnomAD |
|
|
rs1194509546 CA403968524 |
1489 | A>G | No |
ClinGen TOPMed |
|
|
rs1599340011 CA403968488 |
1494 | T>P | No |
ClinGen Ensembl |
|
|
rs1599339998 CA403968474 |
1496 | I>T | No |
ClinGen Ensembl |
|
|
CA403968463 rs1599339984 |
1498 | W>G | No |
ClinGen Ensembl |
|
|
CA403968429 rs1599339970 |
1503 | T>P | No |
ClinGen Ensembl |
|
|
CA403968326 rs1316848811 |
1518 | E>K | No |
ClinGen gnomAD |
|
|
rs1316848811 CA403968325 |
1518 | E>Q | No |
ClinGen gnomAD |
|
|
CA403968301 rs1441106688 |
1521 | G>S | No |
ClinGen TOPMed |
|
|
CA403968259 rs1292341520 |
1527 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403968244 rs1316990553 |
1529 | N>I | No |
ClinGen gnomAD |
|
|
rs919486255 CA305218206 |
1539 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403968109 rs1305204736 |
1547 | V>M | No |
ClinGen gnomAD |
|
|
rs1299212888 CA403968101 |
1548 | V>M | No |
ClinGen gnomAD |
|
|
CA403968080 rs1393111051 COSM94139 |
1551 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA403968082 rs1388371493 |
1551 | R>W | No |
ClinGen gnomAD |
|
|
rs1461695373 CA403968054 |
1555 | R>C | No |
ClinGen gnomAD |
|
|
rs1388362405 CA403968045 |
1556 | S>F | No |
ClinGen gnomAD |
|
|
rs1170573036 CA403968035 |
1558 | G>S | No |
ClinGen gnomAD |
|
|
rs1395078736 CA403968004 |
1562 | T>S | No |
ClinGen gnomAD |
|
|
CA9187439 rs747467776 |
1564 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1479455681 CA403967966 |
1568 | N>S | No |
ClinGen gnomAD |
|
|
rs750769453 CA9187436 |
1569 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9187437 rs758849260 |
1569 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1301210022 CA403967937 |
1572 | K>N | No |
ClinGen gnomAD |
|
|
CA305218181 rs930531589 |
1573 | H>Q | No |
ClinGen TOPMed |
|
|
rs1331424954 CA403967922 |
1575 | Q>* | No |
ClinGen gnomAD |
|
|
CA403967461 rs1248265917 |
1582 | P>L | No |
ClinGen gnomAD |
|
|
CA305217366 rs750979984 |
1587 | A>T | No |
ClinGen Ensembl |
|
|
rs1203183469 CA403967374 |
1589 | G>C | No |
ClinGen gnomAD |
|
|
CA9187385 rs764265673 |
1590 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9187384 rs760959433 |
1592 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352663970 CA403967261 |
1596 | M>V | No |
ClinGen TOPMed |
|
|
CA9187382 rs767705266 |
1601 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599336501 CA403967173 |
1602 | E>A | No |
ClinGen Ensembl |
|
|
rs1442469317 CA403967156 |
1603 | S>N | No |
ClinGen TOPMed |
|
|
CA9187362 rs751625674 |
1607 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201774098 RCV000757172 CA9187360 |
1610 | E>K | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
CA9187355 rs370070174 |
1612 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770148933 CA9187356 |
1612 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9187357 rs773514878 |
1612 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1328853556 CA403966945 |
1613 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1266661641 CA403966933 |
1614 | A>T | No |
ClinGen gnomAD |
|
|
rs1004658637 CA305217008 |
1615 | K>E | No |
ClinGen TOPMed gnomAD |
2 associated diseases with P26358
[MIM: 614116]: Neuropathy, hereditary sensory, 1E (HSN1E)
A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia. {ECO:0000269|PubMed:21532572}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 604121]: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. {ECO:0000269|PubMed:22328086}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia. {ECO:0000269|PubMed:21532572}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. {ECO:0000269|PubMed:22328086}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.37 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR10629 | CYTOSINE-SPECIFIC METHYLTRANSFERASE |
| PANTHER Subfamily | PTHR10629:SF59 | DNA (CYTOSINE-5)-METHYLTRANSFERASE CMT1-RELATED |
| PANTHER Protein Class | DNA methyltransferase | |
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| pericentric heterochromatin | Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3). |
| replication fork | The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA (cytosine-5-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + DNA containing cytosine = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-methyltransferase activity | Catalysis of the transfer of a methyl group to a DNA molecule. |
| methyl-CpG binding | Binding to a methylated cytosine/guanine dinucleotide. |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| zinc ion binding | Binding to a zinc ion (Zn). |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to amino acid stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
| cellular response to bisphenol A | 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 bisphenol A stimulus. |
| DNA methylation | The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine. |
| DNA methylation involved in embryo development | The covalent transfer of a methyl group to C-5 of cytosine that contributes to the epigenetic regulation of embryonic gene expression. |
| DNA methylation-dependent heterochromatin assembly | Repression of transcription by methylation of DNA, leading to the formation of heterochromatin. |
| maintenance of DNA methylation | Any process involved in maintaining the methylation state of a nucleotide sequence. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of histone H3-K9 methylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 9 of histone H3. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of vascular associated smooth muscle cell apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. |
| negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching | Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell differentiation involved in phenotypic switching. |
| positive regulation of DNA methylation-dependent heterochromatin assembly | Any process that increases the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of histone H3-K4 methylation | Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3. |
| positive regulation of vascular associated smooth muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q24K09 | DNMT1 | DNA (cytosine-5)-methyltransferase 1 | Bos taurus (Bovine) | SS |
| Q92072 | DNMT1 | DNA | Gallus gallus (Chicken) | SS |
| P13864 | Dnmt1 | DNA (cytosine-5)-methyltransferase 1 | Mus musculus (Mouse) | EV |
| Q9Z330 | Dnmt1 | DNA (cytosine-5)-methyltransferase 1 | Rattus norvegicus (Rat) | SS |
| O49139 | CMT1 | Putative DNA (cytosine-5)-methyltransferase CMT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPARTAPARV | PTLAVPAISL | PDDVRRRLKD | LERDSLTEKE | CVKEKLNLLH | EFLQTEIKNQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LCDLETKLRK | EELSEEGYLA | KVKSLLNKDL | SLENGAHAYN | REVNGRLENG | NQARSEARRV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GMADANSPPK | PLSKPRTPRR | SKSDGEAKPE | PSPSPRITRK | STRQTTITSH | FAKGPAKRKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QEESERAKSD | ESIKEEDKDQ | DEKRRRVTSR | ERVARPLPAE | EPERAKSGTR | TEKEEERDEK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEKRLRSQTK | EPTPKQKLKE | EPDREARAGV | QADEDEDGDE | KDEKKHRSQP | KDLAAKRRPE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EKEPEKVNPQ | ISDEKDEDEK | EEKRRKTTPK | EPTEKKMARA | KTVMNSKTHP | PKCIQCGQYL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DDPDLKYGQH | PPDAVDEPQM | LTNEKLSIFD | ANESGFESYE | ALPQHKLTCF | SVYCKHGHLC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PIDTGLIEKN | IELFFSGSAK | PIYDDDPSLE | GGVNGKNLGP | INEWWITGFD | GGEKALIGFS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TSFAEYILMD | PSPEYAPIFG | LMQEKIYISK | IVVEFLQSNS | DSTYEDLINK | IETTVPPSGL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NLNRFTEDSL | LRHAQFVVEQ | VESYDEAGDS | DEQPIFLTPC | MRDLIKLAGV | TLGQRRAQAR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RQTIRHSTRE | KDRGPTKATT | TKLVYQIFDT | FFAEQIEKDD | REDKENAFKR | RRCGVCEVCQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QPECGKCKAC | KDMVKFGGSG | RSKQACQERR | CPNMAMKEAD | DDEEVDDNIP | EMPSPKKMHQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GKKKKQNKNR | ISWVGEAVKT | DGKKSYYKKV | CIDAETLEVG | DCVSVIPDDS | SKPLYLARVT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ALWEDSSNGQ | MFHAHWFCAG | TDTVLGATSD | PLELFLVDEC | EDMQLSYIHS | KVKVIYKAPS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ENWAMEGGMD | PESLLEGDDG | KTYFYQLWYD | QDYARFESPP | KTQPTEDNKF | KFCVSCARLA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EMRQKEIPRV | LEQLEDLDSR | VLYYSATKNG | ILYRVGDGVY | LPPEAFTFNI | KLSSPVKRPR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KEPVDEDLYP | EHYRKYSDYI | KGSNLDAPEP | YRIGRIKEIF | CPKKSNGRPN | ETDIKIRVNK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FYRPENTHKS | TPASYHADIN | LLYWSDEEAV | VDFKAVQGRC | TVEYGEDLPE | CVQVYSMGGP |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| NRFYFLEAYN | AKSKSFEDPP | NHARSPGNKG | KGKGKGKGKP | KSQACEPSEP | EIEIKLPKLR |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TLDVFSGCGG | LSEGFHQAGI | SDTLWAIEMW | DPAAQAFRLN | NPGSTVFTED | CNILLKLVMA |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GETTNSRGQR | LPQKGDVEML | CGGPPCQGFS | GMNRFNSRTY | SKFKNSLVVS | FLSYCDYYRP |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| RFFLLENVRN | FVSFKRSMVL | KLTLRCLVRM | GYQCTFGVLQ | AGQYGVAQTR | RRAIILAAAP |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| GEKLPLFPEP | LHVFAPRACQ | LSVVVDDKKF | VSNITRLSSG | PFRTITVRDT | MSDLPEVRNG |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| ASALEISYNG | EPQSWFQRQL | RGAQYQPILR | DHICKDMSAL | VAARMRHIPL | APGSDWRDLP |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| NIEVRLSDGT | MARKLRYTHH | DRKNGRSSSG | ALRGVCSCVE | AGKACDPAAR | QFNTLIPWCL |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| PHTGNRHNHW | AGLYGRLEWD | GFFSTTVTNP | EPMGKQGRVL | HPEQHRVVSV | RECARSQGFP |
| 1570 | 1580 | 1590 | 1600 | 1610 | |
| DTYRLFGNIL | DKHRQVGNAV | PPPLAKAIGL | EIKLCMLAKA | RESASAKIKE | EEAAKD |