P35523
PR
Gene name |
CLCN1 |
Protein name |
Chloride channel protein 1 |
Names |
ClC-1, Chloride channel protein, skeletal muscle |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1180 |
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
8 structures for P35523
1022 variants for P35523
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA369676375 RCV001860307 RCV000605421 rs1322496244 |
5 | R>W | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000266244 rs115379077 CA4536803 RCV000710100 RCV000429129 RCV001086850 |
9 | R>H | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745344072 RCV000817468 CA369676448 |
9 | R>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1563071875 CA369676500 RCV000706459 |
11 | G>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478896 rs143025648 RCV001202209 CA4536805 |
13 | Q>K | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886062031 CA10623343 CA369676722 RCV000302620 |
19 | D>E | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
RCV000361953 RCV000711240 RCV001257057 rs146160029 CA4536816 RCV000442751 |
29 | H>P | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000638254 CA4536821 rs200889399 |
34 | G>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001266023 rs1802291231 |
41 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs868831424 CA168249802 RCV002551437 RCV001039045 |
43 | Q>P | Congenital myotonia, autosomal recessive form Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs868831424 CA369677316 VAR_075588 |
43 | Q>R | MCAR; decreased chloride transport; decreased localization to the plasma membrane; dominant negative effect on chloride transport and localization to the plasma membrane; no significant effect on chloride channel activity; no effect on homodimerization [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs371715660 RCV000560556 CA4536827 |
45 | R>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000638251 CA4536828 COSM116843 RCV000714895 RCV002473080 RCV000714896 rs185031797 |
47 | R>W | Congenital myotonia, autosomal dominant form ovary Congenital myotonia, autosomal recessive form liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1802292476 RCV001050855 |
52 | P>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001195830 RCV001158331 RCV002558397 rs767366093 CA4536837 |
53 | R>C | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs202120426 RCV001861959 RCV000711224 COSM1548931 CA4536842 |
56 | V>I | lung Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4536872 rs769312894 VAR_075589 |
70 | S>L | MCAR; unknown pathological significance; no effect on chloride transport [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA10625392 rs886062033 RCV000317482 RCV002523586 |
72 | R>T | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001386447 CA369680508 rs1554434400 RCV000541514 |
74 | Q>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803654 CA369680541 rs1586483060 |
75 | D>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4536875 VAR_075590 rs772100356 |
82 | T>A | MCAR; unknown pathological significance; no effect on chloride transport [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001056436 CA369680787 rs1193157349 |
85 | S>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001240665 CA4536879 RCV001587269 rs147581794 |
88 | V>M | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA168253208 rs948634525 RCV000638239 |
89 | D>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000547104 CA369681106 rs1320351683 |
96 | Y>H | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA369681224 rs1586483209 RCV000817027 |
100 | Q>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_001582 RCV000998933 RCV000792000 CA4536912 rs201509501 RCV001161535 |
105 | R>C | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAR; no effect on chloride transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756353660 RCV001571296 RCV000263405 CA4536913 RCV000536073 |
105 | R>H | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001718774 COSM1235499 rs145517198 RCV000318718 CA4536914 RCV000548708 |
106 | L>V | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308742 rs1802406028 |
115 | G>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524844 RCV000517094 rs10282312 |
118 | G>= | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000987988 rs10282312 RCV001519256 RCV001579208 CA4536919 RCV001528988 VAR_001583 |
118 | G>W | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001238197 rs1802406774 |
125 | G>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524063 RCV001853654 rs1320040467 |
127 | L>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000019100 CA258030 RCV001049292 VAR_075591 RCV000020109 rs80356699 |
128 | M>V | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_001584 | 136 | D>G | MCAR [UniProt] | Yes | UniProt |
|
RCV001247973 CA915945540 rs1586484463 RCV000991826 |
137 | Y>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_075592 RCV000991825 RCV000692856 CA4536926 rs748639603 |
137 | Y>D | Congenital myotonia, autosomal recessive form MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs748639603 RCV001039575 |
137 | Y>H | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4536928 RCV001405014 RCV001163064 RCV000711232 rs762344462 |
138 | V>I | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA369683042 rs1475533366 RCV000821658 |
145 | A>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_001585 | 150 | Y>C | MCAR [UniProt] | Yes | UniProt |
|
CA4536959 COSM1086738 RCV001861300 rs140726900 RCV000387932 RCV003144240 |
151 | A>T | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. endometrium Batten-Turner congenital myopathy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4536960 RCV001317077 rs145280046 |
151 | A>V | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 9.242e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000431371 RCV000554887 RCV000288833 rs111482384 CA4536963 VAR_075593 |
154 | Q>R | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy no effect on chloride transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554434794 RCV000546329 RCV001382363 |
157 | L>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221403 rs1802428440 |
159 | L>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819257 rs1586485406 CA369683546 |
160 | Q>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_075594 rs771532474 CA4536967 RCV000800510 |
160 | Q>H | Congenital myotonia, autosomal recessive form MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
| VAR_001586 | 161 | F>V | MCAD and MCAR [UniProt] | Yes | UniProt |
| VAR_075595 | 164 | W>R | MCAR; altered chloride channel activity [UniProt] | Yes | UniProt |
|
CA369683661 rs1586485438 VAR_001587 |
165 | V>G | MCAR [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA276129 RCV000415172 VAR_001588 RCV000711233 RCV001753591 RCV000191068 RCV000479583 rs149729531 RCV000191070 RCV000343760 RCV000556194 |
167 | F>L | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAR; no effect on chloride transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000711234 CA369683801 RCV001343925 rs992335710 |
172 | I>F | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001195835 rs555680428 CA4536973 RCV001863095 |
175 | S>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs574259784 RCV001217264 CA4536976 RCV003145402 |
176 | A>D | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs766286036 CA4536977 RCV001208244 |
177 | L>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA168255814 RCV001163065 rs980845093 RCV001365474 |
182 | I>M | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001216010 rs969430772 CA16618362 RCV000487004 |
182 | I>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554434814 CA369684018 RCV001851430 RCV002267616 RCV000517953 |
183 | S>P | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554434857 CA369684212 RCV001002775 RCV001327394 |
188 | G>D | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554434857 CA369684215 RCV000532409 |
188 | G>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000019102 CA258032 rs121912810 |
189 | S>F | Congenital myotonia, autosomal dominant form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000711236 rs369773321 RCV000530513 CA4537004 |
190 | G>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000489144 RCV002288796 CA276131 RCV000530150 RCV000626583 rs797045032 RCV000191069 VAR_075596 |
190 | G>S | Myocardial infarction Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form MCAR; loss of chloride channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA341547 RCV001208684 rs80356686 VAR_075597 COSM3942097 RCV003144110 |
193 | E>K | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. oesophagus MCAD [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_075598 | 197 | I>R | MCAR; changed chloride channel activity [UniProt] | Yes | UniProt |
|
RCV000711237 VAR_075599 RCV001861960 rs1347382107 CA369684421 |
198 | L>P | Congenital myotonia, autosomal recessive form MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA341549 RCV000545021 RCV000517112 rs80356685 |
198 | L>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1201276 rs143506735 CA4537011 RCV000707456 |
199 | R>C | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. large_intestine skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1563074523 CA369684451 VAR_001589 |
200 | G>R | MCAD and MCAR [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV003145199 RCV000819331 CA4537013 rs769612798 |
201 | V>I | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201113768 RCV000638247 CA168256321 |
212 | F>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201113768 RCV003144411 CA4537020 RCV000638244 |
212 | F>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4537021 RCV001531061 RCV001306259 rs756755417 |
213 | V>M | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000487022 CA4537025 rs189963844 RCV000803459 COSM3698236 |
218 | A>T | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747078264 RCV000624565 CA4537029 RCV001855313 |
222 | G>S | Congenital myotonia, autosomal recessive form Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003145518 CA4537035 RCV001296750 rs761601545 |
229 | V>M | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000019084 VAR_001590 CA258012 rs80356700 RCV000291823 RCV000627758 RCV000020113 |
230 | G>E | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. Batten-Turner congenital myopathy MCAD and MCAR; changed ion selectivity; loss of chloride transport; mild dominant effect [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000816296 rs1586486170 RCV002298785 CA369686025 |
231 | K>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000995507 rs139039122 RCV002549767 CA168257695 RCV000991827 |
233 | G>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000484110 RCV001053739 rs1064794643 CA16618364 |
236 | V>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776173406 VAR_001591 RCV000794264 CA369686339 RCV003144594 |
236 | V>L | Congenital myotonia, autosomal recessive form MCAR; loss of chloride transport; changed calcium channel activity; changed gating of the channel [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001348005 rs1454438376 CA369686410 |
239 | A>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000760440 rs561470261 RCV001223937 CA4537067 |
248 | K>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA4537069 RCV003144410 RCV000638238 rs754934082 CA4537068 |
250 | M>I | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000814239 CA369686663 rs1586487813 |
250 | M>T | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813660 rs1586487826 |
251 | S>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772027125 RCV000822037 RCV001836901 CA4537072 |
254 | C>W | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000784895 RCV000784894 RCV002535707 CA4537073 rs746691295 |
255 | G>R | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA369686764 RCV000815779 RCV000518447 rs746691295 |
255 | G>W | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626180 CA369687471 RCV001289386 rs1554435319 |
260 | P>L | Congenital myotonia, autosomal dominant form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA168258795 rs200621976 VAR_001592 |
261 | Y>C | MCAR [UniProt] | Yes |
ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000819385 rs770081373 |
264 | S>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497783 CA341551 RCV000763168 rs80356687 |
268 | T>M | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_075600 | 270 | G>V | MCAR; decreased chloride channel activity [UniProt] | Yes | UniProt |
|
rs1554435334 RCV002525026 RCV000517249 CA369687538 |
271 | C>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA369687541 RCV000814953 rs1475869303 |
271 | C>Y | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA369687550 rs1563075892 RCV000819609 |
272 | A>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693050 RCV003144519 CA369687551 rs1563075892 |
272 | A>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA168258821 rs921162119 RCV001091921 RCV000821657 |
273 | V>M | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759703560 CA4537127 RCV002549768 RCV000991829 |
275 | V>I | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765181341 CA4537128 RCV000518465 RCV001071563 RCV001662525 |
276 | G>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000019097 rs140026363 RCV001382411 |
277 | C>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001339411 rs757109632 |
277 | C>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4537130 rs757109632 VAR_075601 |
277 | C>R | MCAR; reduced chloride transport; no effect on protein abundance [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP |
| VAR_075602 | 277 | C>Y | MCAR; reduced chloride transport; changed calcium channel activity; changed gating of the channel; no effect on protein abundance [UniProt] | Yes | UniProt |
|
CA369687595 rs80190110 RCV000817026 |
280 | G>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586489432 RCV000807524 CA369687607 |
282 | P>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002043970 CA341553 rs80356688 |
283 | L>F | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001753743 RCV000305463 VAR_001593 RCV000560216 CA4537163 rs150885084 |
285 | G>E | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. Smith-Lemli-Opitz syndrome MCAR; loss of chloride channel activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000814585 rs80356689 VAR_001594 CA341555 |
286 | V>A | Congenital myotonia, autosomal recessive form MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel; dominant negative effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1266327660 CA369641498 RCV001036751 |
287 | L>Q | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000711241 RCV000690053 RCV000020117 RCV001196224 VAR_001595 RCV000019091 RCV000626584 rs80356690 CA258020 |
290 | I>M | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000019093 RCV002468557 VAR_001596 COSM1201277 RCV001781282 RCV001041229 rs121912805 CA258022 |
291 | E>K | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine MCAR; loss of calcium channel activity; no dominant negative effect [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762943928 RCV001216910 |
293 | T>I | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761298 RCV000991830 CA4537170 RCV000638241 rs764100025 RCV002267619 |
298 | A>T | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA168212450 RCV001851431 RCV002227481 rs202179484 RCV000517685 RCV001814177 |
299 | V>L | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA658657736 rs1554436419 RCV000518248 RCV000638230 |
300 | R>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1586496726 RCV000019101 CA913184850 |
300 | R>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4537173 RCV000404319 VAR_001597 RCV000513813 RCV001086594 RCV000239241 rs118066140 RCV000660618 |
300 | R>Q | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy no effect on chloride transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001386290 RCV000516826 rs1229066957 CA10575434 |
303 | W>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000498675 rs1554436427 RCV001857007 CA369641598 |
303 | W>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343192 rs1802702027 |
305 | G>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001780164 RCV001230055 rs1802702190 |
306 | F>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341557 RCV000020118 RCV000483128 rs80356701 VAR_001598 RCV000477848 RCV002243656 |
307 | F>S | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000696073 RCV003144304 rs766116662 RCV000518597 |
308 | A>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000638240 rs1330549395 CA369641632 |
308 | A>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1406554534 CA369641636 RCV001314143 |
308 | A>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000516849 RCV000020119 CA341559 RCV002514123 rs80356691 RCV001823101 |
310 | T>M | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1586496817 CA369641653 RCV000791647 |
311 | F>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA341561 RCV001196602 RCV000638231 VAR_001599 RCV000224894 rs80356692 |
313 | A>T | Congenital myotonia, autosomal recessive form MCAD and MCAR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1337473924 RCV001390938 RCV000518686 COSM1448833 CA369641691 |
317 | R>* | Congenital myotonia, autosomal recessive form large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000020121 RCV000019094 RCV000019095 rs80356702 RCV000763169 RCV000516960 RCV000626585 VAR_001600 CA258024 |
317 | R>Q | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Migraine Batten-Turner congenital myopathy MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP |
|
RCV000809623 rs1478129213 CA369641709 RCV000991831 |
320 | A>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000800361 CA4537184 RCV001836890 rs780150093 |
321 | V>E | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774396430 RCV000638252 CA4537187 VAR_001601 RCV000517879 |
327 | V>I | Congenital myotonia, autosomal recessive form MCAR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_001602 | 329 | I>T | MCAR [UniProt] | Yes | UniProt |
|
RCV001257324 rs1802715644 |
337 | F>C | Congenital myotonia, autosomal dominant form [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1448834 RCV000488375 RCV001030775 rs759761559 RCV000701179 CA16621861 |
338 | R>* | Congenital myotonia, autosomal recessive form large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA341533 RCV000517885 RCV000638255 VAR_001603 COSM1086741 rs80356703 |
338 | R>Q | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. large_intestine endometrium MCAD and MCAR [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001288919 RCV002537983 rs1682810737 |
354 | I>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4537213 rs563864511 RCV000688682 |
354 | I>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000711214 RCV001861958 RCV002289993 CA369641943 rs1282349760 |
355 | G>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4537214 rs767000881 RCV000516411 RCV000527543 CA369641941 RCV002227480 |
355 | G>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000517339 RCV000811322 CA369642143 rs1554436573 |
366 | V>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA168213226 RCV001209829 rs1031445351 |
367 | Y>N | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4537244 RCV002529874 RCV001158441 RCV000638237 rs140536210 |
375 | G>S | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000517902 CA4537246 RCV000695020 rs201714423 |
377 | R>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA4537248 rs376144544 RCV001218935 |
383 | S>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4537272 rs547603982 RCV000687628 |
390 | R>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000802171 CA369643163 RCV000578533 rs1554436799 |
393 | Y>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs368958317 RCV002466266 RCV001209375 CA369643229 |
397 | V>D | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs202119213 CA4537279 RCV001078695 RCV000297363 RCV000481219 |
402 | A>V | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000592862 COSM1330018 RCV001368637 rs202019723 CA4537280 |
408 | P>A | ovary Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001202683 rs1802752292 |
409 | G>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494058 rs756199349 RCV000536398 CA4537282 |
411 | G>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
VAR_075603 rs1279658001 CA369643516 |
412 | Q>P | MCAR; loss of chloride transport; decreased localization to the plasma membrane; loss of homodimerization; might be degraded [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000346725 CA258010 RCV001548747 VAR_001604 RCV002291268 rs121912799 RCV000638232 RCV000019083 RCV000184008 |
413 | F>C | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form CLCN1-related disorder MCAR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs368276618 CA4537284 RCV000638242 |
414 | M>T | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1023099235 RCV001297259 |
415 | A>T | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_001605 | 415 | A>V | MCAR [UniProt] | Yes | UniProt |
|
rs1360333956 CA369643606 RCV001069020 |
416 | G>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA369643690 rs1472138354 RCV001158443 |
418 | L>F | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV001193451 rs763633152 RCV000691433 RCV000516577 |
421 | R>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000518336 CA4537307 RCV001857897 rs756981034 |
421 | R>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4537308 RCV000517508 RCV002267615 rs780834658 |
421 | R>H | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002534494 CA168214305 rs780834658 RCV000711216 |
421 | R>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001341884 rs375292685 RCV003145587 CA4537314 |
427 | L>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000761495 RCV002536582 rs752041565 RCV002285412 |
428 | F>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000193137 CA347374 RCV000701519 rs774843953 RCV000518351 |
428 | F>S | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1802763171 RCV001062860 |
433 | W>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117491 RCV000691234 RCV001662756 CA168214377 rs1027814542 |
433 | W>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000543464 RCV000262113 RCV000437690 rs41276054 VAR_001606 CA4537318 |
437 | A>T | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1586499614 RCV000822873 RCV000803504 |
453 | R>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536748 VAR_075604 RCV000484220 rs376026619 CA4537329 RCV003155206 COSM452526 |
453 | R>W | Congenital myotonia, autosomal recessive form breast MCAR; unknown pathological significance; no effect on chloride channel activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA16618365 rs1064796557 RCV002525941 RCV000485989 |
463 | F>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4537338 RCV000331292 rs776848644 RCV001057136 |
466 | M>L | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA168214578 RCV001063068 RCV000711218 rs149892539 |
467 | K>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000395981 RCV000664241 RCV001753742 RCV001262336 RCV002259330 RCV000778142 RCV000552780 rs768119034 |
480 | P>missing | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Smith-Lemli-Opitz syndrome Batten-Turner congenital myopathy Autosomal dominant intermediate Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212337 VAR_077244 rs80356694 |
480 | P>H | Congenital myotonia, autosomal recessive form MCAD; decreased protein abundance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000020101 rs80356694 CA258018 RCV001237767 VAR_001607 RCV000019089 |
480 | P>L | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAD; loss of chloride transport; changed chloride channel activity; changed gating of the channel; dominant effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs80356695 RCV001253400 |
480 | P>S | Congenital myotonia, autosomal dominant form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs80356695 CA341537 RCV002267654 |
480 | P>T | Congenital myotonia, autosomal dominant form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001756153 CA369645384 RCV000685629 rs1380726444 |
482 | G>E | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
COSM377006 rs746125212 RCV000019088 CA4537375 VAR_001608 CA369645380 RCV000691722 RCV000657922 RCV000810078 |
482 | G>R | Variant assessed as Somatic; 0.0 impact. lung Congenital myotonia, autosomal recessive form MCAR [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA369645389 RCV001318534 rs1336878695 |
483 | G>D | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA369645393 VAR_075605 rs1312002847 |
484 | F>L | MCAD; reduced chloride transport; changed calcium channel activity; changed channel gating; no dominant negative effect [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000778823 RCV000638257 VAR_001609 CA4537377 rs146457619 RCV001589311 RCV001252999 RCV000342021 |
485 | M>V | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4537403 RCV001212828 RCV002269327 RCV000987990 rs770900468 |
493 | A>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4537404 RCV001088318 RCV000711220 rs147493705 |
494 | F>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000692794 RCV001781281 CA258016 rs121912801 RCV000019087 VAR_001610 |
496 | R>S | Congenital myotonia, autosomal recessive form MCAR; loss of chloride channel activity; recessive [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000812979 rs1586507943 CA369645589 |
497 | L>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001203791 rs1803022284 |
499 | G>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121912807 VAR_075606 RCV001382414 CA258026 RCV000019096 |
499 | G>R | Congenital myotonia, autosomal recessive form MCAR; reduced chloride transport; changed calcium channel activity; changed channel gating [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001348006 rs1803022969 |
504 | M>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA369645705 RCV000823499 rs1271778777 |
506 | F>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA369645814 rs1441046956 RCV000991819 RCV001858741 |
514 | D>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001067005 CA4537414 rs756490905 |
514 | D>N | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1460714146 RCV001091922 RCV001862702 RCV002267630 |
523 | G>D | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1460714146 RCV001664789 RCV001262904 CA369645934 |
523 | G>V | Congenital myotonia, autosomal dominant form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000711221 RCV001296751 rs1563083476 CA369645945 |
524 | Y>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1319653705 CA369645982 RCV001067338 |
527 | I>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_075607 | 527 | I>T | MCAR; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000711222 CA341539 RCV000638249 RCV002267607 rs80356704 RCV000020102 |
531 | A>V | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
| VAR_075608 | 533 | T>I | MCAR; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1316380335 RCV001161646 CA369646371 |
533 | T>S | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001059033 rs752814433 |
535 | A>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049002 rs777685454 RCV000517072 CA4537439 |
536 | V>I | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 9.239e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777685454 CA369646385 VAR_075609 |
536 | V>L | MCAR; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001041972 rs1554438432 RCV000517996 |
539 | T>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA369646417 RCV000701109 rs1563084569 |
541 | S>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691419 rs1563084597 |
548 | E>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_036300 CA4537442 COSM33030 RCV001067172 rs546411827 |
548 | E>K | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. endometrium breast a breast cancer sample; somatic mutation [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000194136 RCV000793565 RCV001823126 rs762754992 CA347407 |
550 | T>M | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000020103 RCV000019090 VAR_001611 RCV000498537 RCV000685420 CA127249 RCV001253100 rs80356696 |
552 | Q>R | Congenital myotonia, autosomal dominant form Myotonia levior Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAD and MCAR; also found in myotonia levior; reduced chloride transport; changed calcium channel activity; changed channel gating; weak dominant negative effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA341541 VAR_001612 rs80356697 RCV001224306 RCV003137538 RCV001826481 |
556 | I>N | Congenital myotonia, autosomal recessive form MCAD and MCAR; mild form; reduced chloride transport; changed chloride channel activity; changed gating of the channel; partial dominant negative effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000823200 rs1586510615 CA369646526 |
558 | P>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA369646543 RCV002267633 rs1269268607 RCV002267634 RCV002245868 RCV001203792 |
560 | M>T | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_001613 | 563 | V>I | MCAR [UniProt] | Yes | UniProt |
|
RCV001037122 rs779726850 CA168221674 |
567 | N>K | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064590 RCV001593243 rs766432255 CA4537457 |
575 | P>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001225606 rs1161052414 CA369646643 |
576 | S>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1803094547 RCV001243765 |
581 | I>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001644600 RCV000706509 rs747895358 CA4537461 |
583 | Q>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4537467 rs746346988 RCV000277353 RCV001366416 RCV001574106 |
594 | G>V | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069532 rs376321837 CA4537468 |
595 | W>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA369646777 rs1586510870 RCV000791909 |
595 | W>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs908274887 CA168224703 RCV000809015 |
603 | I>F | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs773422802 CA4537492 RCV001219921 |
605 | V>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000711225 RCV001358812 rs146469288 CA4537496 |
611 | R>C | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM745185 CA4537497 RCV001358944 rs763850295 RCV001163171 |
611 | R>H | lung Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. Batten-Turner congenital myopathy [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_075610 CA4537498 RCV000381389 RCV000710099 rs140205115 RCV001086283 |
614 | K>N | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10623352 rs886062035 RCV000291704 |
623 | G>R | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067924 rs1424799320 RCV001784623 |
624 | E>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000518160 RCV000638229 CA168224771 rs201894078 |
626 | R>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_075611 | 628 | L>P | MCAR; unknown pathological significance; no effect on calcium channel activity [UniProt] | Yes | UniProt |
|
rs749762818 RCV000794383 RCV001163173 CA4537504 |
631 | T>I | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000660617 RCV001858013 rs772430525 CA4537508 RCV000519934 |
635 | K>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003145582 RCV001338762 rs1803111177 |
636 | T>N | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538778 rs1554438574 |
640 | V>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_075612 RCV001312155 RCV001871788 RCV002290687 rs1803111906 |
640 | V>G | Congenital myotonia, autosomal recessive form MCAR; reduced calcium channel activity [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs760693424 RCV001225139 RCV003145423 CA4537510 |
641 | D>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1803112361 RCV002473172 RCV001042853 |
642 | S>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1181586555 RCV001289378 CA369649403 RCV001859227 |
650 | G>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4537521 RCV000793259 rs754350357 |
651 | S>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1586514992 RCV001037787 RCV001009209 |
656 | E>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294555 rs1803210699 |
660 | L>I | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1212604561 RCV000550715 CA369649669 |
663 | R>H | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4537522 rs201218706 RCV000876323 |
664 | H>Y | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1424224517 RCV000638246 CA369649768 |
667 | P>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs748537564 RCV001231598 CA4537524 |
669 | R>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003144330 CA4537525 RCV000525733 rs772516304 |
671 | L>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001035266 rs1586515112 RCV001008934 |
673 | A>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001163174 rs200385034 CA4537527 |
673 | A>P | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000370138 RCV002519068 rs886042007 |
675 | Q>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4537531 RCV000815375 RCV003144302 RCV000516361 rs768582911 |
675 | Q>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202235 rs750187204 CA4537532 RCV000484331 |
676 | E>Q | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000538282 rs760351874 RCV003144331 CA4537536 |
683 | E>Q | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1803216360 RCV001307488 |
684 | L>G | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555433 rs1359747708 CA369650143 |
686 | Y>D | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000478548 RCV000766930 rs770836890 RCV002063798 |
688 | G>VR | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563087092 CA369650185 RCV001236573 |
688 | G>W | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA369650321 RCV001210736 rs1243583996 |
696 | G>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA369650454 RCV000991820 rs1428234081 RCV001869369 |
703 | G>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA369650465 RCV001066353 rs984151770 |
704 | R>Q | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1803220621 RCV001165265 |
705 | P>R | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_001614 | 708 | F>L | MCAR [UniProt] | Yes | UniProt |
|
rs1803225186 RCV001045841 |
724 | E>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000427667 VAR_047779 RCV000343234 RCV001579219 RCV001520613 RCV001579220 CA4537581 rs13438232 |
727 | P>L | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778825 rs1563087702 |
732 | H>missing | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4537587 RCV001042976 rs780173260 |
733 | P>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001067178 rs539404339 RCV001336633 |
735 | T>A | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040323 rs1803237753 |
735 | T>I | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139757692 CA4537591 RCV000711228 RCV001089201 RCV000407398 |
736 | T>I | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001237765 rs1803238026 |
739 | L>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003144513 CA4537593 RCV000691444 rs139262486 |
740 | S>C | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4537594 RCV000518175 RCV000279484 rs149316679 RCV000638263 RCV001712348 |
744 | P>T | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000516763 CA4537596 RCV001165266 rs144612641 RCV000552273 |
745 | N>S | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000638248 CA4537598 rs373850192 |
747 | P>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000638245 RCV002272312 rs112282456 CA4537603 RCV002529875 |
753 | Q>P | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1803241372 RCV001158553 |
755 | P>L | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754581538 CA4537635 RCV000552498 RCV003144332 |
763 | Q>K | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs80356707 RCV000020105 |
777 | G>missing | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338798 rs1803256620 |
777 | G>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM109994 CA4537638 RCV001315418 rs138062220 |
780 | R>C | Congenital myotonia, autosomal recessive form skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4537639 rs529481237 RCV000638236 |
780 | R>H | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs117661165 RCV001057097 CA4537641 |
781 | P>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001040281 rs199610988 CA4537646 |
788 | Q>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001304711 rs1803265479 |
792 | D>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002289680 RCV000494185 RCV001387794 rs1131691551 CA369652442 |
801 | E>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000638234 CA4537684 rs146453561 |
804 | A>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA369652499 RCV001384031 rs1554439817 RCV000553148 RCV001783047 |
807 | Q>* | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003145190 RCV000816466 CA4537687 rs139881658 RCV002222640 |
813 | P>T | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001050234 CA4537690 rs752494680 |
815 | C>R | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755343536 RCV001257255 CA4537701 |
832 | T>I | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000545772 rs112068131 CA168230454 |
833 | T>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002473106 rs780534566 RCV000688034 |
840 | L>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000762485 CA369653163 RCV001855956 rs1563090141 |
843 | L>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755433272 CA4537723 VAR_075613 |
845 | G>S | MCAR; unknown pathological significance; no effect on chloride channel activity [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000368010 RCV000711230 RCV000700433 CA4537729 rs201861334 |
849 | A>T | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749205522 RCV001824155 RCV000706396 CA4537731 RCV001289382 |
851 | V>M | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000638243 rs1554439879 VAR_075614 CA369653279 |
855 | G>E | Congenital myotonia, autosomal recessive form MCAR; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001053528 rs767209392 RCV000184022 CA275467 RCV002472962 |
860 | V>I | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1803406966 RCV001158555 |
872 | G>E | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002464193 rs1057518917 RCV001548069 CA16043424 RCV000794580 RCV000415403 RCV001196630 |
879 | Q>* | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA369653521 rs1473430259 RCV000811644 |
881 | R>C | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs745329674 RCV001071809 CA4537759 RCV000991822 |
882 | P>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764347321 CA4537760 RCV001213417 |
883 | P>T | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001071565 rs1803409136 |
885 | A>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771890096 CA168231457 RCV002473276 RCV001347447 |
888 | R>Q | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001794458 RCV000627759 RCV001564017 RCV000292791 RCV000019098 RCV000019099 RCV000626582 CA258028 rs55960271 RCV001813999 RCV000020107 |
894 | R>* | Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001244354 CA4537767 rs145412643 |
894 | R>Q | Congenital myotonia, autosomal recessive form Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1803412320 RCV001217604 |
902 | S>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886062036 CA10628411 RCV000369167 |
905 | E>K | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4537773 rs146862992 RCV000689675 |
908 | N>D | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA168231530 CA4537774 RCV001206446 rs139117651 |
908 | N>K | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ESP ExAC gnomAD ClinVar dbSNP |
|
RCV001245697 rs1803414359 |
917 | T>A | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700139 rs1563091175 |
922 | V>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000270859 CA4537786 rs777708543 RCV000414193 |
929 | T>I | Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143075418 RCV001040990 RCV003145268 CA4537785 |
929 | T>S | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001862703 RCV001814274 rs749552056 RCV001091925 |
930 | P>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000020108 CA258014 RCV000019085 RCV000478940 VAR_075615 RCV000638250 rs80356706 |
932 | P>L | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy MCAR; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000812692 RCV002538127 RCV003145174 rs1448219970 CA369653830 |
933 | S>Y | Congenital myotonia, autosomal recessive form Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001207011 rs1803417569 |
935 | S>P | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4537791 RCV000706801 rs574104250 RCV001161760 RCV003144569 |
939 | P>A | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4537793 RCV001161761 rs769053787 |
941 | S>F | Variant assessed as Somatic; 0.0 impact. Batten-Turner congenital myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001209625 rs1226179201 CA369653896 |
944 | P>L | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000307053 rs755176513 RCV000705425 |
945 | G>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774199742 RCV001066318 RCV002554488 CA4537796 |
945 | G>S | Congenital myotonia, autosomal recessive form Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000876537 CA4537797 rs139659129 RCV001546134 |
945 | G>V | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_075616 | 947 | V>E | MCAR; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV003145416 RCV001221920 VAR_079520 CA4537800 rs201506176 |
950 | E>K | Congenital myotonia, autosomal recessive form MCAD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150796358 RCV001161762 CA4537805 RCV000798907 RCV000711231 |
955 | E>V | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003145554 RCV001314542 rs1803422217 |
961 | G>E | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696470 CA369654144 rs748630375 |
968 | D>H | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000535831 RCV000195160 rs142539932 RCV000180791 CA248367 |
976 | R>* | Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001244772 rs1803424950 |
982 | D>N | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748329158 RCV001043278 |
988 | L>missing | Congenital myotonia, autosomal recessive form [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4536798 rs777366731 |
4 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4536799 rs201327261 |
5 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745344072 CA4536802 |
9 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115379077 CA168249657 |
9 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1051714088 CA168249661 CA369676464 |
10 | G>R | No |
ClinGen gnomAD |
|
|
CA369676486 rs1210604442 |
11 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 14 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369676576 rs1194717455 |
15 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769092535 CA4536806 |
16 | W>* | No |
ClinGen ExAC gnomAD |
|
|
COSM4161902 CA369676645 rs1434585576 |
16 | W>C | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1196345944 CA369676671 |
17 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369676674 rs1586479385 |
18 | S>G | No |
ClinGen Ensembl |
|
|
rs774525961 CA4536807 |
18 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774525961 CA369676689 |
18 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748447969 CA4536808 |
18 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4536810 rs772152846 |
20 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773346609 CA4536811 |
20 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA168249693 rs772152846 |
20 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369676840 rs760729130 |
23 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4536813 rs766386297 |
25 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1300860950 CA369676870 |
25 | M>V | No |
ClinGen gnomAD |
|
|
rs775412383 CA4536814 |
26 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM452525 rs775412383 CA369676887 |
26 | P>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762761541 CA4536815 |
28 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs751290706 CA4536817 |
30 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4536818 rs756977743 |
31 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA4536819 rs767076900 |
31 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4536822 rs779667702 |
35 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1347626545 CA369677186 |
38 | E>D | No |
ClinGen gnomAD |
|
|
CA4536824 rs755414284 |
39 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369677200 rs1220204810 |
39 | N>Y | No |
ClinGen gnomAD |
|
|
CA369677246 rs1471953068 |
41 | G>S | No |
ClinGen gnomAD |
|
|
rs1165421867 CA369677260 |
41 | G>V | No |
ClinGen gnomAD |
|
|
rs563275093 CA4536826 |
43 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 43 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747166328 CA4536829 |
47 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4536831 rs776644621 |
49 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs763907395 CA4536833 |
50 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4536832 rs762996741 |
50 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs75643846 CA4536836 |
51 | G>A | No |
ClinGen ExAC |
|
|
rs75643846 CA4536835 |
51 | G>D | No |
ClinGen ExAC |
|
|
rs1487169721 CA369677502 |
51 | G>S | No |
ClinGen TOPMed |
|
|
rs1244607320 CA369677533 |
52 | P>H | No |
ClinGen gnomAD |
|
|
rs1244607320 CA369677537 |
52 | P>L | No |
ClinGen gnomAD |
|
|
rs750107386 CA4536838 |
53 | R>H | Variant assessed as Somatic; 4.873e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766032710 CA4536840 |
55 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415954354 CA369677670 |
57 | H>R | No |
ClinGen gnomAD |
|
|
rs779274886 CA4536843 |
58 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1364660030 CA369677707 |
59 | T>A | No |
ClinGen TOPMed |
|
|
CA369677742 rs1296103687 |
60 | Q>H | No |
ClinGen TOPMed |
|
|
rs781383745 CA4536870 |
63 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs781383745 CA369678914 |
63 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA369679015 rs1297302659 |
67 | E>D | No |
ClinGen gnomAD |
|
|
CA168253111 rs956078618 |
68 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369679099 rs1219415384 |
72 | R>G | No |
ClinGen gnomAD |
|
|
rs780145291 CA4536873 |
73 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA168253145 rs977267957 |
78 | M>I | No |
ClinGen Ensembl |
|
|
CA369680698 rs1268699070 |
80 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs149407148 CA4536874 |
81 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369680718 rs1186508183 |
81 | K>T | No |
ClinGen gnomAD |
|
|
CA4536876 rs773205379 |
83 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064796042 CA16618361 RCV000483056 |
87 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1394098762 CA369680855 |
87 | T>S | No |
ClinGen TOPMed |
|
|
rs1470906832 CA369680893 |
89 | D>N | No |
ClinGen TOPMed |
|
|
CA369681011 rs1452161083 |
93 | E>G | No |
ClinGen gnomAD |
|
|
CA369680995 rs1391542845 |
93 | E>K | No |
ClinGen gnomAD |
|
|
CA369681045 RCV000991823 rs1586483178 |
94 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369681032 rs1169302112 |
94 | D>Y | No |
ClinGen TOPMed |
|
|
CA369681072 rs1190152596 |
95 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA168253270 rs752230240 COSM1733291 |
96 | Y>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4536882 rs752230240 |
96 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4536883 rs201591839 |
97 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369681162 rs1276263559 |
98 | K>N | No |
ClinGen gnomAD |
|
|
CA369681250 RCV000518821 rs1204927357 RCV003144303 |
101 | D>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1430763492 CA369681575 |
102 | C>F | No |
ClinGen gnomAD |
|
|
CA369681657 rs1563073737 |
104 | H>R | No |
ClinGen Ensembl |
|
|
rs1481244244 CA369681650 |
104 | H>Y | No |
ClinGen TOPMed |
|
|
rs756353660 CA168254377 |
105 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369681833 rs1586484297 |
109 | V>G | No |
ClinGen Ensembl |
|
|
CA168254398 rs558421799 |
109 | V>L | No |
ClinGen Ensembl |
|
|
rs1207475165 CA369681838 |
110 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 112 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369681997 rs1450087834 |
113 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1272277958 CA369682046 |
115 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779095781 CA4536918 |
116 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1224227320 CA369682126 |
117 | D>G | No |
ClinGen TOPMed |
|
|
rs10282312 CA369682144 |
118 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4536920 rs757196935 |
119 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA369682259 rs528823552 |
122 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4536921 rs528823552 |
122 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4536923 rs769391461 |
131 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs769391461 CA369682538 RCV000991824 |
131 | V>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs80356684 CA341545 |
132 | S>C | No |
ClinGen Ensembl |
|
|
rs775224495 CA4536924 |
132 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA168254498 rs1043793999 |
135 | M>T | No |
ClinGen gnomAD |
|
|
rs773806167 CA369682736 |
137 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1166848679 CA578444425 |
137 | Y>* | No |
ClinGen gnomAD |
|
|
CA4536930 rs773504729 |
139 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435631505 CA369682866 |
140 | A>D | No |
ClinGen gnomAD |
|
|
CA168254556 rs976301654 |
140 | A>T | No |
ClinGen TOPMed |
|
|
rs761111883 CA4536931 |
141 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1586484496 CA369682924 |
142 | S>N | No |
ClinGen Ensembl |
|
|
CA168254567 rs754142595 |
144 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4536933 rs754142595 |
144 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs764015801 CA4536956 |
147 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA168255566 rs890873529 |
147 | K>R | No |
ClinGen Ensembl |
|
|
CA369683321 rs1409574232 |
148 | W>R | No |
ClinGen gnomAD |
|
|
rs750408091 CA4536957 |
149 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778548210 CA4536962 |
153 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771642243 CA4536964 |
154 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777097053 COSM1201275 CA4536965 |
155 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs747599835 CA369683471 CA4536966 |
156 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA369683599 rs1156756469 |
162 | L>P | No |
ClinGen TOPMed |
|
|
rs763587236 CA168255719 |
163 | V>F | No |
ClinGen gnomAD |
|
|
rs763587236 CA369683602 |
163 | V>I | No |
ClinGen gnomAD |
|
|
CA4536969 rs759966057 |
166 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1418010822 CA369683678 |
166 | T>S | No |
ClinGen TOPMed |
|
|
CA168255753 rs992335710 |
172 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1554434802 CA4536971 |
173 | L>F | No |
ClinGen Ensembl |
|
|
CA369683828 rs1267273520 |
173 | L>H | No |
ClinGen TOPMed |
|
|
CA369683883 rs774277408 |
176 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1086739 rs774277408 CA4536975 |
176 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766286036 CA168255803 |
177 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1267764190 CA369683893 |
177 | L>H | No |
ClinGen TOPMed |
|
|
CA369683905 rs1306254920 |
178 | F>L | No |
ClinGen gnomAD |
|
|
CA369684044 rs1397098562 |
184 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs540699776 CA369684052 |
185 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540699776 CA4536979 |
185 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764969054 CA4536980 |
187 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA369684214 rs1554434857 RCV000711235 |
188 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369684106 rs1302735361 |
188 | G>S | No |
ClinGen TOPMed |
|
|
rs751167296 CA4537002 |
189 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4537003 rs369773321 |
190 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4537005 rs746401512 |
190 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756669568 CA4537006 |
191 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs749614246 CA4537008 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537010 rs748326003 |
194 | M>T | No |
ClinGen ExAC |
|
|
CA168256254 rs145502082 |
195 | K>N | No |
ClinGen ESP |
|
|
CA168256232 rs933342820 |
195 | K>Q | No |
ClinGen TOPMed |
|
|
rs1802442547 RCV001289385 |
196 | T>S | No |
ClinVar dbSNP |
|
|
CA369684397 rs1262557112 |
197 | I>M | No |
ClinGen TOPMed |
|
|
CA168256267 rs1050437727 |
197 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1347382107 CA369684423 |
198 | L>R | No |
ClinGen TOPMed |
|
|
rs759508927 CA4537012 |
200 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA369684465 rs769612798 |
201 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428984473 CA369684483 |
202 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586485968 CA369684470 |
202 | V>I | No |
ClinGen Ensembl |
|
|
CA168256302 rs267601360 |
205 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1563074540 CA369684582 |
206 | Y>* | No |
ClinGen Ensembl |
|
|
rs963470037 CA168256303 |
206 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 207 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360822210 CA369684621 |
207 | L>R | No |
ClinGen gnomAD |
|
|
CA4537016 rs763883834 |
211 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763883834 CA4537017 |
211 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4537018 rs761511512 |
211 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586486042 CA369684746 |
213 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 214 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461818983 CA369684754 |
214 | A>T | No |
ClinGen TOPMed |
|
|
CA4537023 rs754300978 |
216 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA369684888 rs1480129666 |
220 | T>N | No |
ClinGen gnomAD |
|
|
CA4537026 rs748415883 |
221 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4537032 rs762908937 |
224 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA369684985 rs1304529237 |
226 | G>D | No |
ClinGen gnomAD |
|
|
rs768360914 CA4537033 |
228 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761601545 CA4537036 |
229 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369686021 rs80356700 |
230 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923380712 CA369686049 |
232 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA168256462 rs868784999 |
232 | E>K | No |
ClinGen Ensembl |
|
|
CA369686328 CA4537057 rs760323048 |
235 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776173406 CA369686341 |
236 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776173406 CA4537058 |
236 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542648820 CA4537059 |
237 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765718767 CA4537061 |
238 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs765718767 CA4537060 |
238 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758767069 CA4537062 |
240 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369686432 rs764402957 |
240 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757481015 CA4537065 |
242 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1337536141 CA369686514 |
244 | A>S | No |
ClinGen gnomAD |
|
|
rs781173163 CA4537066 |
245 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781173163 CA369686526 |
245 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 246 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA168257771 rs962608579 |
249 | F>L | No |
ClinGen TOPMed |
|
|
CA369686642 rs1586487807 |
249 | F>S | No |
ClinGen Ensembl |
|
|
CA4537070 rs748053186 |
253 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285179667 CA369687479 |
261 | Y>* | No |
ClinGen gnomAD |
|
|
CA4537124 rs761037693 |
262 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369687519 rs1411209435 |
267 | L>R | No |
ClinGen TOPMed |
|
|
CA369687536 rs1490537212 |
270 | G>A | No |
ClinGen gnomAD |
|
|
CA369687535 RCV000711239 rs1490537212 |
270 | G>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000991828 rs1586489367 CA369687555 |
273 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1586489415 CA369687579 |
277 | C>W | No |
ClinGen Ensembl |
|
|
CA168258843 rs370330909 |
278 | C>G | No |
ClinGen Ensembl |
|
|
rs80190110 CA168258844 |
280 | G>W | No |
ClinGen Ensembl |
|
|
rs1399253572 CA369687620 |
284 | G>E | No |
ClinGen gnomAD |
|
|
CA4537165 rs777104046 |
288 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775703359 CA4537168 |
292 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs762943928 CA4537169 |
293 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs202179484 CA369641573 |
299 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4537172 rs368280521 |
300 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563078716 CA369641591 COSM1330019 RCV000711242 |
302 | Y>C | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA4537176 rs764804597 |
304 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA369641613 rs1563078729 |
305 | G>E | No |
ClinGen Ensembl |
|
|
CA168212578 rs982703615 |
312 | S>N | No |
ClinGen TOPMed |
|
|
CA369641662 CA369641661 rs752153471 |
312 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369641680 rs1484247994 |
315 | V>A | No |
ClinGen gnomAD |
|
|
CA4537181 rs781728156 |
318 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA369641721 rs1441448091 |
322 | W>* | No |
ClinGen gnomAD |
|
|
CA4537186 rs768750688 |
323 | N>D | No |
ClinGen ExAC |
|
| TCGA novel | 323 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951855372 CA168212624 |
324 | K>E | No |
ClinGen Ensembl |
|
|
rs1193395764 CA369641735 |
324 | K>N | No |
ClinGen gnomAD |
|
|
CA168212625 rs201043261 |
324 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 327 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780421370 CA4537201 RCV000998934 |
328 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA369641779 rs140664749 RCV000991832 |
329 | I>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA369641795 rs1303802838 |
332 | L>P | No |
ClinGen gnomAD |
|
|
rs772084781 CA4537206 |
334 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs776457257 CA4537207 |
336 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA369641834 rs80356703 |
338 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4537208 rs769517790 |
339 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA369641857 TCGA novel rs1351015503 |
341 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA4537209 rs775333425 |
342 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA369641865 rs1554436510 RCV000626580 |
343 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369641868 rs1291895685 |
343 | F>S | No |
ClinGen gnomAD |
|
|
rs762751787 CA4537210 |
344 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763833357 CA4537211 |
350 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4537212 rs777250564 |
353 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs1014782276 | 354 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1455434689 | 355 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537236 rs754288182 |
356 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1296912759 CA369642021 |
357 | C>F | No |
ClinGen gnomAD |
|
|
CA4537237 rs755360930 |
358 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs765547180 CA4537238 |
360 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758597490 CA4537240 |
362 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147933742 CA4537241 |
364 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA168213225 rs978582962 |
365 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369642146 rs1085307989 RCV000489990 |
366 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1198219818 CA369642166 |
368 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1307513672 CA369642179 |
369 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA369642195 rs1256013991 |
370 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs143009041 CA4537242 |
370 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369642198 rs143009041 |
370 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112058663 CA168213233 |
372 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA369642235 rs1204054164 |
373 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4537243 rs377545434 |
373 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369642250 rs1482388640 |
374 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749187770 CA4537245 |
375 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4537247 rs148702833 |
377 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1470543383 CA369642324 |
380 | K>R | No |
ClinGen gnomAD |
|
|
CA369642330 rs1178994182 |
381 | A>T | No |
ClinGen gnomAD |
|
|
CA369642448 rs1185245751 |
389 | H>Y | No |
ClinGen TOPMed |
|
|
rs770282110 COSM205455 CA4537273 |
390 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4537274 rs770282110 |
390 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490522144 CA369643172 |
394 | P>A | No |
ClinGen gnomAD |
|
|
CA369643205 rs1245472901 |
396 | I>T | No |
ClinGen gnomAD |
|
|
CA4537278 rs368958317 |
397 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369643232 rs368958317 |
397 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1308245696 CA369643214 |
397 | V>I | No |
ClinGen TOPMed |
|
|
rs1325858298 CA369643244 |
398 | T>A | No |
ClinGen TOPMed |
|
|
rs1178110314 CA369643260 |
399 | F>L | No |
ClinGen gnomAD |
|
|
CA369643276 rs1408328135 |
400 | V>I | No |
ClinGen gnomAD |
|
|
CA168213993 rs1031770273 |
403 | S>L | No |
ClinGen Ensembl |
|
|
rs1453387125 CA369643390 |
406 | F>L | No |
ClinGen TOPMed |
|
|
rs1424675504 CA369643436 |
408 | P>R | No |
ClinGen gnomAD |
|
|
CA4537281 rs202019723 |
408 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369643558 rs1298511653 COSM231140 |
414 | M>V | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1023099235 CA168214027 |
415 | A>P | No |
ClinGen gnomAD |
|
|
rs777400211 CA4537285 |
416 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA369643625 rs1288398919 |
417 | E>G | No |
ClinGen gnomAD |
|
|
rs751309154 CA369643682 |
418 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463906799 CA369643723 |
420 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1463906799 CA369643729 |
420 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3411720 CA369643720 rs1425685904 |
420 | P>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM274560 rs889073641 CA168214308 |
422 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs943200637 CA168214311 |
423 | A>T | No |
ClinGen Ensembl |
|
|
rs779399708 CA4537311 |
425 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4537312 rs749846585 |
426 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369643832 rs1563079994 |
426 | T>N | No |
ClinGen Ensembl |
|
|
rs1001314584 CA168214372 |
429 | D>G | No |
ClinGen TOPMed |
|
|
CA168214373 rs775263957 |
432 | T>A | No |
ClinGen Ensembl |
|
|
rs1563080014 RCV000711217 CA369643950 |
432 | T>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369643966 rs1486868849 |
433 | W>* | No |
ClinGen TOPMed |
|
|
CA4537319 rs563423438 |
437 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1476813483 CA369644061 |
438 | G>S | No |
ClinGen gnomAD |
|
|
rs776560929 CA4537321 |
439 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4537322 rs763016842 |
440 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA369644174 rs1171100243 |
443 | L>P | No |
ClinGen gnomAD |
|
|
CA4537323 rs372052925 |
443 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751455475 CA4537324 |
444 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA369644194 rs1401396816 |
445 | Q>R | No |
ClinGen gnomAD |
|
|
CA369644214 rs200371691 |
448 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4537325 rs200371691 |
448 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767259407 CA4537326 |
451 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4537328 rs755738207 |
452 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1416813045 CA369644258 |
452 | P>S | No |
ClinGen TOPMed |
|
|
CA4537330 rs376026619 |
453 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4537331 rs754440141 |
453 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369644276 rs1410524240 |
454 | V>I | No |
ClinGen TOPMed |
|
|
rs1216826772 CA369644298 |
456 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA168214543 rs922819878 |
456 | V>I | No |
ClinGen TOPMed |
|
|
rs1460476157 CA369644307 |
458 | I>V | No |
ClinGen TOPMed |
|
|
CA4537334 rs549883097 |
461 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417884621 CA369644364 |
463 | F>I | No |
ClinGen TOPMed |
|
|
rs773694168 COSM1548924 CA4537335 |
464 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1196438057 CA369644399 |
465 | V>A | No |
ClinGen gnomAD |
|
|
CA369644393 rs139158852 |
465 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139158852 CA4537337 COSM122179 |
465 | V>I | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. liver central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4537339 rs562154756 |
467 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759207718 CA4537366 |
469 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369645218 rs759207718 RCV000517528 |
469 | W>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs369471801 CA168219494 |
470 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4537367 rs369471801 |
470 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341535 rs80356693 |
471 | S>F | No |
ClinGen Ensembl |
|
|
CA4537368 rs767231116 |
472 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA168219527 rs987348654 |
473 | V>M | No |
ClinGen TOPMed |
|
|
CA369645279 rs1325971229 |
474 | A>T | No |
ClinGen gnomAD |
|
|
rs752065845 CA4537371 |
475 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4537372 rs757591414 |
476 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424967747 CA369645313 |
477 | M>K | No |
ClinGen gnomAD |
|
|
rs1554438053 RCV000659092 |
482 | G>missing | No |
ClinVar dbSNP |
|
|
CA4537376 rs756345166 |
483 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586507590 CA369645404 RCV000991818 |
485 | M>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA168219579 rs961564485 |
487 | V>A | No |
ClinGen TOPMed |
|
|
rs749370790 CA4537379 |
487 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs768660807 CA4537380 |
489 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA369645446 rs1211105753 |
489 | V>M | No |
ClinGen gnomAD |
|
|
CA369645564 rs1255229981 |
495 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 501 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586507959 CA369645634 |
501 | I>V | No |
ClinGen Ensembl |
|
|
rs762661865 CA4537407 |
502 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763744797 CA4537408 |
503 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762293954 CA4537410 |
509 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4537413 rs756490905 |
514 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754110523 CA168219826 |
515 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406551500 CA369645828 |
515 | I>T | No |
ClinGen gnomAD |
|
|
rs754110523 CA4537415 |
515 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755182969 CA4537417 |
517 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755182969 CA4537416 |
517 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369645882 rs1166744698 |
519 | I>F | No |
ClinGen gnomAD |
|
|
CA369645890 rs1347911316 |
519 | I>M | No |
ClinGen gnomAD |
|
|
rs146872412 CA168219839 |
521 | P>L | No |
ClinGen ESP |
|
|
CA4537418 rs752827170 |
527 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 530 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537437 rs752814433 |
535 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1175929008 CA369646388 |
536 | V>A | No |
ClinGen TOPMed |
|
|
CA369646405 rs1474851853 |
539 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000518548 CA369646435 rs1554438433 |
544 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369646466 rs1239385810 |
548 | E>G | No |
ClinGen TOPMed |
|
|
CA4537443 rs749100260 |
549 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762754992 RCV001312154 |
550 | T>R | No |
ClinVar dbSNP |
|
|
CA369646484 rs1563084603 RCV000711223 |
551 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs80356696 CA4537445 |
552 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333207710 CA369646495 |
553 | I>F | No |
ClinGen TOPMed |
|
|
rs1332302928 CA369646497 |
553 | I>T | No |
ClinGen gnomAD |
|
|
rs1554438441 RCV000626581 |
555 | H>missing | No |
ClinVar dbSNP |
|
|
CA4537446 rs201850090 RCV000437007 |
555 | H>Y | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA369646548 rs1304963998 |
561 | V>M | No |
ClinGen TOPMed |
|
|
rs866949655 CA168221662 |
562 | A>V | No |
ClinGen Ensembl |
|
|
CA168221667 rs75066781 |
564 | I>F | No |
ClinGen Ensembl |
|
|
CA168221668 rs200115869 |
565 | L>F | No |
ClinGen Ensembl |
|
|
CA369646578 rs1277611744 |
566 | A>T | No |
ClinGen gnomAD |
|
|
rs753006971 CA4537452 |
568 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1265242921 CA369646594 |
568 | M>T | No |
ClinGen gnomAD |
|
|
rs1376901913 CA369646591 |
568 | M>V | No |
ClinGen gnomAD |
|
|
rs550768045 CA4537454 |
570 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 572 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537455 rs751682004 |
572 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4537456 rs757335005 |
573 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA168221722 rs143825889 COSM1312780 |
576 | S>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs143825889 CA369646644 |
576 | S>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1382065561 CA369646655 |
578 | Y>S | No |
ClinGen gnomAD |
|
|
CA369646704 rs1438174452 |
585 | K>E | No |
ClinGen gnomAD |
|
|
CA4537462 rs757983792 |
585 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 586 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777417782 CA4537463 |
588 | P>S | No |
ClinGen ExAC |
|
|
rs1346607954 CA369646731 |
589 | Y>S | No |
ClinGen gnomAD |
|
|
rs148132102 CA4537465 |
592 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200536855 CA168221759 |
592 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 594 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023118080 CA168221783 |
595 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA369646775 rs1023118080 |
595 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA369646840 RCV000513588 rs1554438471 |
599 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs545129217 CA168224666 |
601 | Y>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs762094361 CA4537490 |
602 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192307423 CA168224718 |
606 | E>K | No |
ClinGen 1000Genomes |
|
|
CA4537494 rs765101381 |
609 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752632796 CA4537495 |
610 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 610 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537499 rs756893085 |
616 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484994164 CA369647820 |
623 | G>A | No |
ClinGen gnomAD |
|
|
CA369647824 rs1563085093 |
624 | E>K | No |
ClinGen Ensembl |
|
|
CA4537501 COSM1201278 rs749902453 |
626 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs202231290 CA4537502 |
627 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA168224806 rs1009716258 |
629 | L>P | No |
ClinGen Ensembl |
|
|
rs1302946040 CA369647943 |
630 | Q>H | No |
ClinGen gnomAD |
|
|
rs779397970 CA4537506 |
633 | T>I | No |
ClinGen ExAC |
|
|
CA168224845 rs561549978 |
643 | K>E | No |
ClinGen 1000Genomes |
|
|
CA369649296 rs1402378708 |
644 | D>G | No |
ClinGen gnomAD |
|
|
RCV000520134 CA369648214 rs1554438576 |
644 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA369649348 rs1344445942 |
646 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1021804246 CA168226425 |
646 | M>T | No |
ClinGen Ensembl |
|
|
CA369649332 rs1156766492 |
646 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA369649369 rs1328217246 |
647 | I>T | No |
ClinGen gnomAD |
|
|
rs1458212859 CA369649361 |
647 | I>V | No |
ClinGen gnomAD |
|
|
CA168226427 rs142994455 |
648 | L>P | No |
ClinGen ESP |
|
|
CA369649485 rs1322769496 |
654 | R>Q | No |
ClinGen gnomAD |
|
|
CA369649517 rs1224200077 |
656 | E>K | No |
ClinGen gnomAD |
|
|
CA369649597 rs1336908700 |
659 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 663 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450962123 CA369649691 |
664 | H>Q | No |
ClinGen TOPMed |
|
|
CA4537523 rs779497410 |
666 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA369649720 rs779497410 |
666 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1407115613 CA369649723 |
666 | C>Y | No |
ClinGen gnomAD |
|
|
CA369649745 rs1171012754 |
667 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369649781 rs1032211764 |
668 | E>* | No |
ClinGen gnomAD |
|
|
CA369649771 rs1032211764 |
668 | E>K | No |
ClinGen gnomAD |
|
|
CA168226432 rs1032211764 |
668 | E>Q | No |
ClinGen gnomAD |
|
|
rs748537564 CA168226436 |
669 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA168226437 rs1014684722 |
669 | R>H | No |
ClinGen gnomAD |
|
|
CA168226439 rs778587934 |
672 | R>C | No |
ClinGen Ensembl |
|
|
CA4537526 rs777888721 |
672 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867472297 CA168226472 |
673 | A>E | No |
ClinGen Ensembl |
|
|
rs200385034 CA369649904 |
673 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4537528 rs200385034 |
673 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776762331 CA4537529 |
674 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000711227 CA369649965 rs1563086980 |
675 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA369649972 rs768582911 |
675 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909044209 CA168226515 |
676 | E>G | No |
ClinGen TOPMed |
|
|
CA369650011 rs1258297683 |
677 | M>T | No |
ClinGen gnomAD |
|
|
rs552596358 CA4537534 |
677 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA168226522 rs772779414 |
678 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1439080785 CA369650023 |
678 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4537535 rs772779414 |
678 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA168226524 rs866943748 |
679 | R>Q | No |
ClinGen Ensembl |
|
|
CA369650035 rs1483557433 |
679 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA369650095 rs1214664465 |
682 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369650120 rs764445259 |
684 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA168226566 rs774795252 |
684 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764445259 CA168226547 |
684 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1328309025 CA369650129 |
685 | P>S | No |
ClinGen gnomAD |
|
|
rs1417174086 CA369650151 CA369650154 RCV001008657 |
686 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs201675628 CA369650174 |
687 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371792469 CA168226570 |
687 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1563087092 CA369650182 |
688 | G>R | No |
ClinGen Ensembl |
|
|
rs1372287604 CA369650211 |
689 | K>E | No |
ClinGen TOPMed |
|
|
CA369650219 rs1270455891 |
689 | K>R | No |
ClinGen gnomAD |
|
|
CA369650230 rs1341061140 |
690 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1341061140 CA369650226 |
690 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1212400786 CA369650245 |
691 | R>Q | No |
ClinGen gnomAD |
|
|
CA369650259 rs1271691018 |
693 | A>T | No |
ClinGen gnomAD |
|
|
CA369650270 rs1347902802 |
693 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4537540 rs754481897 |
694 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4537541 rs765869748 |
695 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753216578 CA168226610 |
695 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA168226603 rs765869748 |
695 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369650294 rs765869748 |
695 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753216578 CA4537542 |
695 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369650354 rs1483760866 |
698 | P>A | No |
ClinGen TOPMed |
|
|
rs903562281 CA168226642 |
699 | G>R | No |
ClinGen gnomAD |
|
|
CA369650371 rs903562281 |
699 | G>S | No |
ClinGen gnomAD |
|
|
rs1172357218 CA369650399 |
700 | A>E | No |
ClinGen gnomAD |
|
|
CA369650437 rs1320731418 |
702 | P>L | No |
ClinGen gnomAD |
|
|
CA369650450 rs1324987162 |
703 | G>C | No |
ClinGen gnomAD |
|
|
rs1324987162 CA369650445 |
703 | G>R | No |
ClinGen gnomAD |
|
|
rs984151770 CA168226659 |
704 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757499280 CA4537546 |
705 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA369650482 rs971824036 |
706 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA168226681 rs971824036 |
706 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369650480 rs971824036 |
706 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 706 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745958320 CA4537548 |
707 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745958320 CA369650506 |
707 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 711 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191850656 CA369650655 |
714 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748045903 CA4537552 |
715 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA369650696 rs771811404 |
716 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4537553 rs771811404 |
716 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4537555 rs760309994 |
717 | E>* | No |
ClinGen ExAC TOPMed |
|
|
CA168226696 rs760309994 |
717 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
CA369650733 rs766070221 |
718 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs2272251 CA369650739 CA369650737 |
718 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766070221 CA4537556 |
718 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA369650742 rs1317251527 |
719 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA369650743 rs1317251527 |
719 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA168226697 rs780013577 |
719 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1394736210 CA369650759 |
720 | S>C | No |
ClinGen gnomAD |
|
|
rs1369535223 CA369650774 |
721 | G>D | No |
ClinGen gnomAD |
|
|
rs1300665013 CA369650763 |
721 | G>S | No |
ClinGen gnomAD |
|
|
rs764810133 CA4537559 |
723 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4537560 rs753308829 |
724 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1348324135 CA369650823 |
724 | E>Q | No |
ClinGen gnomAD |
|
|
rs1393605850 CA369650971 |
726 | P>T | No |
ClinGen gnomAD |
|
|
CA369650995 rs13438232 |
727 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4537582 rs751959889 |
728 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs762266160 CA4537583 |
728 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369651001 rs751959889 |
728 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA369651036 rs767739133 |
730 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4537584 rs767739133 |
730 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207218130 CA369651052 |
730 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 731 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537585 rs750692293 |
731 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA369651082 rs1586516352 |
732 | H>P | No |
ClinGen Ensembl |
|
|
rs1308324341 CA369651074 |
732 | H>Y | No |
ClinGen gnomAD |
|
|
CA369651101 rs780173260 |
733 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 734 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537589 rs539404339 |
735 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4537590 rs754964953 |
736 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746889584 CA4537592 |
739 | L>R | No |
ClinGen ExAC |
|
|
CA369651225 rs1226988170 |
741 | P>S | No |
ClinGen gnomAD |
|
|
CA4537595 rs745586869 |
745 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369651305 rs1289747882 |
745 | N>K | No |
ClinGen TOPMed |
|
|
CA4537597 rs775227599 |
746 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs768009397 CA4537599 |
748 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA369651359 TCGA novel rs1586516468 |
749 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs767926364 CA369651399 CA4537602 |
751 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4537605 rs766601004 |
758 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA369651559 rs1412792102 |
760 | P>H | No |
ClinGen TOPMed |
|
|
rs1306741966 CA369652185 |
762 | G>V | No |
ClinGen gnomAD |
|
|
CA369652189 rs1274628713 |
763 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 764 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778561523 CA4537636 |
765 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267601361 CA168227466 |
766 | S>F | No |
ClinGen Ensembl |
|
|
rs1232912512 CA369652211 |
767 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1481576001 CA369652218 |
768 | F>L | No |
ClinGen gnomAD |
|
|
CA168227476 rs778014635 |
769 | Q>R | No |
ClinGen Ensembl |
|
|
rs1321312278 CA369652263 |
774 | C>W | No |
ClinGen TOPMed |
|
|
CA369652260 rs1372374811 |
774 | C>Y | No |
ClinGen TOPMed |
|
|
CA4537640 rs529481237 |
780 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415931192 CA369652303 |
781 | P>L | No |
ClinGen gnomAD |
|
|
CA4537643 rs776856060 |
783 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 783 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759881490 CA4537644 |
787 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765393777 CA4537645 |
788 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs775611631 CA4537664 |
789 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA369652370 rs1487003752 |
790 | S>A | No |
ClinGen TOPMed |
|
|
CA168227806 rs1038894499 |
796 | N>S | No |
ClinGen Ensembl |
|
|
CA369652417 rs763241373 |
797 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4537666 rs368445765 |
797 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4537665 rs763241373 |
797 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4537667 rs774565204 |
799 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA369652468 rs1469873859 |
803 | E>K | No |
ClinGen gnomAD |
|
|
rs1274398310 CA369652496 |
806 | E>D | No |
ClinGen gnomAD |
|
|
CA168230348 rs866998861 |
808 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA369652530 rs77199385 |
811 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4537685 rs77199385 |
811 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772150974 CA4537686 |
812 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs139881658 CA4537688 |
813 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369652570 rs1239594454 |
817 | D>E | No |
ClinGen gnomAD |
|
|
rs763760683 CA4537692 |
817 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4537693 rs560251067 |
818 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527592146 CA4537694 |
819 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1228087674 CA369652586 |
820 | C>G | No |
ClinGen gnomAD |
|
|
CA658657732 rs1554439830 RCV000517809 |
821 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4537695 rs780727663 |
821 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369652598 rs143146088 RCV000518645 |
822 | D>H | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA168230416 rs143146088 |
822 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA369652611 rs750945292 |
823 | Q>H | No |
ClinGen ExAC |
|
|
CA369652610 rs1337103899 |
823 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1337103899 CA369652609 |
823 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV001289380 rs1803362038 |
824 | S>Y | No |
ClinVar dbSNP |
|
|
CA369652626 rs1276148116 |
826 | F>L | No |
ClinGen TOPMed |
|
|
COSM1699509 rs756637229 CA4537698 |
827 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs780637101 CA4537699 COSM599801 |
828 | L>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA369652655 rs1184528831 |
830 | E>G | No |
ClinGen gnomAD |
|
|
rs749682241 CA4537700 |
831 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA369652660 rs1439192912 |
831 | Q>R | No |
ClinGen TOPMed |
|
|
rs779308470 CA4537702 |
834 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748370257 CA4537703 |
836 | K>* | No |
ClinGen ExAC gnomAD |
|
| rs1160950660 | 836 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755519008 CA4537719 |
838 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4537718 rs755519008 |
838 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369653144 rs1312274433 |
841 | F>V | No |
ClinGen gnomAD |
|
|
CA168230655 rs867453650 |
842 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1327145106 CA369653159 |
843 | L>V | No |
ClinGen gnomAD |
|
|
RCV000711229 rs1563090152 |
844 | L>missing | No |
ClinVar dbSNP |
|
|
CA369653166 rs1229679249 |
844 | L>V | No |
ClinGen gnomAD |
|
|
rs755433272 CA4537724 |
845 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146653916 CA4537727 |
847 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369724350 CA4537725 |
847 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482476297 CA369653201 |
848 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA168230717 rs1035266184 |
850 | Y>D | No |
ClinGen Ensembl |
|
|
rs1563090209 CA369653270 |
854 | M>I | No |
ClinGen Ensembl |
|
|
rs1387717995 CA369653262 |
854 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 856 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336172011 CA369653307 |
858 | R>G | No |
ClinGen TOPMed |
|
|
rs1243522982 CA369653322 |
859 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768494351 CA4537732 |
859 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4537735 rs772689446 |
862 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 867 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4537753 rs760380991 |
869 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319094688 CA369653453 |
870 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1308179741 CA369653449 |
870 | I>V | No |
ClinGen gnomAD |
|
|
CA4537754 rs770632948 |
871 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4537755 rs776287053 |
874 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1247908461 CA369653482 |
875 | K>E | No |
ClinGen gnomAD |
|
|
CA369653488 rs765869908 |
875 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866836670 CA168231410 |
877 | G>E | No |
ClinGen Ensembl |
|
|
CA369653511 rs1210107414 |
879 | Q>H | No |
ClinGen gnomAD |
|
|
rs1251053995 CA369653517 |
880 | L>P | No |
ClinGen gnomAD |
|
|
rs753106925 COSM2151917 CA4537758 |
881 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 882 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348139848 CA369653536 |
884 | L>F | No |
ClinGen gnomAD |
|
|
CA168231421 rs868113642 |
886 | S>I | No |
ClinGen Ensembl |
|
|
rs1457895748 CA369653554 |
887 | F>L | No |
ClinGen gnomAD |
|
|
CA4537763 rs781320829 |
888 | R>W | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1548919 rs750512826 CA4537764 |
889 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756135571 CA4537765 |
890 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1233450885 CA369653581 |
891 | T>I | No |
ClinGen gnomAD |
|
|
rs1291473151 CA369653586 |
892 | S>L | No |
ClinGen gnomAD |
|
|
CA4537770 rs149188892 |
898 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746734545 CA4537769 |
898 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369653628 rs1250710576 |
899 | A>V | No |
ClinGen gnomAD |
|
|
rs759150641 CA4537772 |
903 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1423286757 TCGA novel CA369653663 |
905 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA369653682 rs146862992 |
908 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4537776 rs376263213 |
911 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4537775 rs763359882 |
911 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1563091117 CA369653704 |
912 | D>N | No |
ClinGen Ensembl |
|
|
rs774698486 CA4537777 |
912 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285557537 CA369653715 |
913 | R>K | No |
ClinGen gnomAD |
|
|
CA4537778 rs762103571 |
914 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4537779 rs767745852 |
916 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4537781 rs756225171 |
920 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750600965 CA4537780 |
920 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA168231581 rs867539633 |
921 | D>N | No |
ClinGen Ensembl |
|
|
rs867539633 CA369653756 |
921 | D>Y | No |
ClinGen Ensembl |
|
|
rs768328274 CA168231592 |
922 | V>M | No |
ClinGen Ensembl |
|
|
CA369653776 rs1383928468 |
924 | A>T | No |
ClinGen gnomAD |
|
|
rs777708543 CA369653810 |
929 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147068247 CA4537787 |
930 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4537788 rs757079851 |
932 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA369653823 rs757079851 |
932 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1168501752 CA369653835 |
934 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs745496792 CA4537789 |
936 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4537790 rs370887921 |
938 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369653859 rs1245258761 |
938 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 939 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369653864 rs574104250 |
939 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748760794 CA4537792 |
940 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369653888 rs1366723815 |
943 | A>D | No |
ClinGen gnomAD |
|
|
CA4537798 rs773471003 |
947 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1586524026 CA369653911 |
947 | V>I | No |
ClinGen Ensembl |
|
|
CA369653928 rs1206365042 |
948 | E>D | No |
ClinGen gnomAD |
|
|
CA4537803 rs764160133 |
952 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4537804 rs751513925 |
954 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA168231747 rs150796358 |
955 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA168231742 rs200262034 |
955 | E>K | No |
ClinGen 1000Genomes |
|
|
rs745586851 CA4537807 |
957 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755731058 CA4537808 |
958 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4537809 rs779694767 |
959 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319244496 CA369654093 |
963 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA369654083 rs1290059380 |
963 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs550447852 CA4537810 |
964 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369654126 rs138115069 |
966 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748630375 CA4537813 |
968 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773561043 CA4537815 |
970 | L>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 971 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369654187 rs1327275808 |
971 | Q>R | No |
ClinGen gnomAD |
|
|
rs1197353352 CA369654234 COSM1673609 |
976 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
RCV000522461 rs778865730 |
978 | T>missing | No |
ClinVar dbSNP |
|
|
CA369654257 rs1470699851 |
978 | T>I | No |
ClinGen gnomAD |
|
|
CA369654270 rs776873546 |
979 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759576185 CA4537819 |
980 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 981 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 981 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586524391 CA369654285 |
981 | E>K | No |
ClinGen Ensembl |
|
|
rs1455282239 CA369654310 |
983 | E>K | No |
ClinGen gnomAD |
|
|
rs1586524416 CA369654351 |
986 | L>Q | No |
ClinGen Ensembl |
|
|
CA369654349 rs1157781524 |
986 | L>V | No |
ClinGen gnomAD |
|
|
rs1482298541 CA369654355 |
987 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 988 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with P35523
[MIM: 160800]: Myotonia congenita, autosomal dominant (MCAD)
A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). {ECO:0000269|PubMed:12661046, ECO:0000269|PubMed:26096614, ECO:0000269|PubMed:27653901, ECO:0000269|PubMed:27666773, ECO:0000269|PubMed:7581380, ECO:0000269|PubMed:7981750, ECO:0000269|PubMed:8112288, ECO:0000269|PubMed:8533761, ECO:0000269|PubMed:8845168, ECO:0000269|PubMed:9122265, ECO:0000269|PubMed:9566422, ECO:0000269|PubMed:9736777}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 255700]: Myotonia congenita, autosomal recessive (MCAR)
A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). {ECO:0000269|PubMed:10215406, ECO:0000269|PubMed:10644771, ECO:0000269|PubMed:11113225, ECO:0000269|PubMed:12661046, ECO:0000269|PubMed:1379744, ECO:0000269|PubMed:19697366, ECO:0000269|PubMed:22521272, ECO:0000269|PubMed:22641783, ECO:0000269|PubMed:26007199, ECO:0000269|PubMed:26096614, ECO:0000269|PubMed:26502825, ECO:0000269|PubMed:26510092, ECO:0000269|PubMed:7874130, ECO:0000269|PubMed:7951242, ECO:0000269|PubMed:7981681, ECO:0000269|PubMed:8533761, ECO:0000269|PubMed:8571958, ECO:0000269|PubMed:8845168, ECO:0000269|PubMed:9566422, ECO:0000269|PubMed:9736777}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). {ECO:0000269|PubMed:12661046, ECO:0000269|PubMed:26096614, ECO:0000269|PubMed:27653901, ECO:0000269|PubMed:27666773, ECO:0000269|PubMed:7581380, ECO:0000269|PubMed:7981750, ECO:0000269|PubMed:8112288, ECO:0000269|PubMed:8533761, ECO:0000269|PubMed:8845168, ECO:0000269|PubMed:9122265, ECO:0000269|PubMed:9566422, ECO:0000269|PubMed:9736777}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). {ECO:0000269|PubMed:10215406, ECO:0000269|PubMed:10644771, ECO:0000269|PubMed:11113225, ECO:0000269|PubMed:12661046, ECO:0000269|PubMed:1379744, ECO:0000269|PubMed:19697366, ECO:0000269|PubMed:22521272, ECO:0000269|PubMed:22641783, ECO:0000269|PubMed:26007199, ECO:0000269|PubMed:26096614, ECO:0000269|PubMed:26502825, ECO:0000269|PubMed:26510092, ECO:0000269|PubMed:7874130, ECO:0000269|PubMed:7951242, ECO:0000269|PubMed:7981681, ECO:0000269|PubMed:8533761, ECO:0000269|PubMed:8571958, ECO:0000269|PubMed:8845168, ECO:0000269|PubMed:9566422, ECO:0000269|PubMed:9736777}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P35523
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P35523 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| voltage-gated chloride channel activity | Enables the transmembrane transfer of a chloride 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 |
|---|---|
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| neuronal action potential propagation | The propagation of an action potential along an axon, away from the soma. |
| 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. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9MZT1 | CLCN1 | Chloride channel protein 1 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P51788 | CLCN2 | Chloride channel protein 2 | Homo sapiens (Human) | PR |
| Q9R0A1 | Clcn2 | Chloride channel protein 2 | Mus musculus (Mouse) | PR |
| Q64347 | Clcn1 | Chloride channel protein 1 | Mus musculus (Mouse) | PR |
| P35525 | Clcn2 | Chloride channel protein 2 | Rattus norvegicus (Rat) | PR |
| P35524 | Clcn1 | Chloride channel protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEQSRSQQRG | GEQSWWGSDP | QYQYMPFEHC | TSYGLPSENG | GLQHRLRKDA | GPRHNVHPTQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IYGHHKEQFS | DREQDIGMPK | KTGSSSTVDS | KDEDHYSKCQ | DCIHRLGQVV | RRKLGEDGIF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVLLGLLMAL | VSWSMDYVSA | KSLQAYKWSY | AQMQPSLPLQ | FLVWVTFPLV | LILFSALFCH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LISPQAVGSG | IPEMKTILRG | VVLKEYLTMK | AFVAKVVALT | AGLGSGIPVG | KEGPFVHIAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ICAAVLSKFM | SVFCGVYEQP | YYYSDILTVG | CAVGVGCCFG | TPLGGVLFSI | EVTSTYFAVR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NYWRGFFAAT | FSAFVFRVLA | VWNKDAVTIT | ALFRTNFRMD | FPFDLKELPA | FAAIGICCGL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGAVFVYLHR | QVMLGVRKHK | ALSQFLAKHR | LLYPGIVTFV | IASFTFPPGM | GQFMAGELMP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| REAISTLFDN | NTWVKHAGDP | ESLGQSAVWI | HPRVNVVIII | FLFFVMKFWM | SIVATTMPIP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CGGFMPVFVL | GAAFGRLVGE | IMAMLFPDGI | LFDDIIYKIL | PGGYAVIGAA | ALTGAVSHTV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| STAVICFELT | GQIAHILPMM | VAVILANMVA | QSLQPSLYDS | IIQVKKLPYL | PDLGWNQLSK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YTIFVEDIMV | RDVKFVSASY | TYGELRTLLQ | TTTVKTLPLV | DSKDSMILLG | SVERSELQAL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LQRHLCPERR | LRAAQEMARK | LSELPYDGKA | RLAGEGLPGA | PPGRPESFAF | VDEDEDEDLS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GKSELPPSLA | LHPSTTAPLS | PEEPNGPLPG | HKQQPEAPEP | AGQRPSIFQS | LLHCLLGRAR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PTKKKTTQDS | TDLVDNMSPE | EIEAWEQEQL | SQPVCFDSCC | IDQSPFQLVE | QTTLHKTHTL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FSLLGLHLAY | VTSMGKLRGV | LALEELQKAI | EGHTKSGVQL | RPPLASFRNT | TSTRKSTGAP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PSSAENWNLP | EDRPGATGTG | DVIAASPETP | VPSPSPEPPL | SLAPGKVEGE | LEELELVESP |
| 970 | 980 | ||||
| GLEEELADIL | QGPSLRSTDE | EDEDELIL |