Q15031
PR
Gene name |
LARS2 |
Protein name |
Leucine--tRNA ligase, mitochondrial |
Names |
Leucyl-tRNA synthetase, LeuRS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23395 |
EC number |
6.1.1.4: Ligases forming aminoacyl-tRNA and related compounds |
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
1 structures for Q15031
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15031-F1 | Predicted | AlphaFoldDB |
655 variants for Q15031
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2349257 RCV000993587 rs757204777 |
103 | R>H | Inborn mitochondrial myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs556672032 CA73680430 RCV001333856 |
106 | T>I | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001270193 rs1698123763 |
109 | D>G | Premature ovarian failure [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2349265 RCV002536062 RCV001570135 rs138437422 RCV000825768 |
113 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352976541 rs776171893 RCV000496108 |
124 | N>I | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352976580 rs1575240334 RCV000993583 |
130 | A>T | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002470994 rs536853368 CA73694042 RCV000993585 |
147 | Q>P | Perrault syndrome 4 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000171359 CA236183 RCV000857233 RCV000723297 RCV001727613 rs786205560 |
153 | N>H | Perrault syndrome 4 Perrault syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001283752 COSM171781 rs770440975 CA73572327 RCV000993581 RCV002538373 |
228 | R>H | Perrault syndrome 4 large_intestine Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV001587314 rs749627411 CA2349444 RCV001283750 RCV002542964 |
294 | E>K | Perrault syndrome 4 Perrault syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA278778 RCV000203257 COSM4149919 rs864309642 |
300 | T>M | ovary Perrault syndrome 4 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001664835 RCV001333857 CA2349457 rs755162646 |
315 | S>L | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000049287 rs398123037 RCV002513679 |
360 | I>missing | Perrault syndrome 4 Perrault syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761250 rs1559484149 CA352424561 |
372 | S>* | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2349536 RCV000825770 rs138121304 RCV001585771 RCV003147559 RCV003147560 |
393 | A>D | Perrault syndrome 4 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376296747 RCV002482158 RCV001862654 CA2349543 RCV001201400 |
413 | E>K | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs879255606 RCV000235638 CA10584653 VAR_076997 |
430 | A>V | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome HLASA; decreased leucine-tRNA ligase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA352425700 rs1575289366 RCV000993582 |
438 | D>G | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352426402 rs1553635112 RCV000608365 |
507 | P>R | Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000993588 RCV000950101 CA2349637 rs116826217 RCV000217610 |
518 | D>N | Inborn mitochondrial myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2349638 RCV001283751 rs141097216 RCV001760324 RCV002537926 |
519 | T>M | Perrault syndrome 4 Perrault syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000604453 CA143979 rs199589947 RCV000235552 RCV000520936 VAR_070094 RCV000857234 RCV000049285 |
522 | T>N | Perrault syndrome 4 Perrault syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Rare genetic deafness PRLTS4 and HLASA; reduced activity; decreased leucine-tRNA ligase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000993586 RCV002470995 rs1575292827 CA352426833 |
536 | P>L | Perrault syndrome 4 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2349693 RCV000850570 rs772859137 |
595 | A>D | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000764507 RCV000610515 CA2349699 rs142665087 RCV002529288 |
605 | R>H | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001544530 rs398123036 RCV000049286 VAR_070095 CA143980 RCV002513678 |
629 | T>M | Nonsyndromic genetic hearing loss Perrault syndrome 4 Perrault syndrome PRLTS4; unknown pathological significance; the mutant is functional in a yeast complementation assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000203255 rs864309643 CA278776 |
638 | E>K | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002529289 RCV001595024 rs143155251 RCV000616471 CA2349732 |
649 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA352428248 rs1348647519 RCV001262515 |
660 | D>V | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs774649299 CA2349739 RCV000496181 |
663 | R>W | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000993584 CA352428780 rs1575308774 |
700 | T>I | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000850571 CA352429631 rs1478071728 |
757 | M>L | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000203053 VAR_052639 RCV001731434 rs9827689 CA249257 RCV000676573 |
831 | E>D | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000609704 RCV001568003 RCV002531144 rs777893707 CA2349948 |
858 | Q>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000433645 RCV001731681 RCV000766548 CA2349953 rs34965084 |
868 | E>K | Perrault syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001853457 RCV002517558 rs142215302 CA2349957 RCV000213882 RCV001731525 |
874 | E>K | Perrault syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352973768 rs1290395808 |
2 | A>S | No |
ClinGen gnomAD |
|
|
rs760845178 CA2349187 |
4 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760845178 CA352973787 |
4 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA352973905 rs1295259726 |
11 | Y>S | No |
ClinGen gnomAD |
|
|
CA352973932 rs754363894 |
13 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2349189 rs754363894 |
13 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs765588082 CA2349191 |
19 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1308542565 CA352974040 |
20 | N>S | No |
ClinGen TOPMed |
|
|
rs1310061774 CA352974055 |
21 | G>D | No |
ClinGen gnomAD |
|
|
CA352974095 rs1217423477 |
24 | D>A | No |
ClinGen gnomAD |
|
|
rs146378764 CA2349192 |
27 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776961881 CA73676920 |
27 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2349193 rs752704499 |
30 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297954758 CA352974214 |
31 | R>T | No |
ClinGen TOPMed |
|
|
rs779796862 CA2349194 |
33 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs113559893 CA73676935 |
35 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1159926651 CA352974288 |
36 | C>Y | No |
ClinGen TOPMed |
|
|
rs1432603068 CA352974312 |
38 | R>G | No |
ClinGen TOPMed |
|
|
rs1421119197 CA352974360 |
40 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1393562575 CA352974355 |
40 | I>T | No |
ClinGen gnomAD |
|
|
CA2349196 rs373693561 |
42 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA73676963 rs997855015 |
43 | A>T | No |
ClinGen Ensembl |
|
|
rs781238503 CA2349198 |
44 | T>M | No |
ClinGen ExAC TOPMed |
|
|
CA352974429 rs1318513422 |
45 | G>V | No |
ClinGen gnomAD |
|
|
CA2349201 rs777694670 |
49 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352974525 rs200135115 |
50 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349202 rs200135115 |
50 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352974548 rs1311173475 |
51 | Y>C | No |
ClinGen TOPMed |
|
|
rs1364798694 CA352974565 |
52 | T>I | No |
ClinGen gnomAD |
|
|
rs1316752362 CA352974608 |
54 | Q>L | No |
ClinGen gnomAD |
|
|
rs768754426 CA2349206 |
57 | K>E | No |
ClinGen ExAC |
|
|
rs777055524 CA2349207 |
58 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV002285370 RCV000603739 CA2349209 rs199568924 |
60 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2349208 rs762319941 |
60 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1213550131 CA352974804 |
63 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1278002430 CA352974817 |
64 | H>P | No |
ClinGen TOPMed |
|
|
CA352974849 rs1214818871 |
66 | R>* | No |
ClinGen Ensembl |
|
|
CA73677020 rs149789249 COSM189277 |
66 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA73677024 rs553596357 |
68 | K>E | No |
ClinGen Ensembl |
|
|
CA2349210 rs750723957 |
70 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1559453846 CA352974897 |
71 | A>T | No |
ClinGen Ensembl |
|
|
CA2349212 rs532725261 |
72 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2349215 rs780865850 |
74 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349216 rs541763978 |
75 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1419687237 CA352974941 |
75 | S>T | No |
ClinGen gnomAD |
|
|
CA352974947 rs1357539757 |
76 | E>K | No |
ClinGen TOPMed |
|
|
rs374194205 CA2349243 |
80 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334434462 CA352975350 |
81 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA73680318 rs1005358698 |
81 | K>N | No |
ClinGen gnomAD |
|
|
CA2349246 rs769893695 |
83 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs770943192 CA73680340 |
84 | F>L | No |
ClinGen Ensembl |
|
|
rs140589843 CA2349249 |
86 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140589843 CA2349248 |
86 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352975384 rs1389047908 |
87 | L>I | No |
ClinGen gnomAD |
|
|
rs1447080953 CA352975388 |
87 | L>P | No |
ClinGen gnomAD |
|
|
CA2349251 rs760015172 |
89 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA352975397 rs1393905854 |
89 | M>V | No |
ClinGen TOPMed |
|
|
rs1375645374 CA352975413 |
91 | P>A | No |
ClinGen gnomAD |
|
|
CA2349252 rs767253820 |
93 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA73680351 rs993142041 |
93 | P>S | No |
ClinGen TOPMed |
|
|
CA73680372 rs1024210684 |
94 | S>P | No |
ClinGen Ensembl |
|
|
rs1332623491 CA352975435 |
95 | G>S | No |
ClinGen gnomAD |
|
|
rs1455253525 CA352975446 |
96 | K>R | No |
ClinGen TOPMed |
|
|
CA2349256 rs753658244 |
101 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1236543678 CA352975492 |
103 | R>C | No |
ClinGen gnomAD |
|
|
CA352975500 rs1217108736 |
104 | V>D | No |
ClinGen TOPMed |
|
|
rs1244376742 CA352975495 |
104 | V>I | No |
ClinGen TOPMed |
|
|
CA73680426 rs556672032 |
106 | T>N | No |
ClinGen gnomAD |
|
|
rs1485401622 CA352975511 |
106 | T>S | No |
ClinGen TOPMed |
|
|
rs980073657 CA73680435 |
107 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750198721 CA2349259 |
108 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA352975521 rs1348939960 |
108 | S>N | No |
ClinGen TOPMed |
|
|
rs149070352 CA2349261 |
109 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987611886 CA73680488 |
111 | I>M | No |
ClinGen TOPMed |
|
|
CA2349263 rs756093994 |
111 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2349264 rs777897592 |
113 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349267 rs775045400 |
114 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1410648562 CA352975562 |
115 | Q>* | No |
ClinGen gnomAD |
|
|
rs746182533 CA2349268 |
115 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs775215251 CA2349270 |
119 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73680537 rs144922552 CA2349272 |
120 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352975599 rs1326685338 |
120 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760417523 CA2349271 |
120 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1231381165 CA352975604 |
121 | Q>E | No |
ClinGen gnomAD |
|
|
rs200681375 CA2349273 |
121 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs911830225 CA73693972 |
122 | V>I | No |
ClinGen Ensembl |
|
|
CA2349289 rs768333953 |
123 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2349290 rs776171893 |
124 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA352976546 rs1355085607 |
125 | P>T | No |
ClinGen gnomAD |
|
|
rs958751781 CA352976553 |
126 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA352976552 rs1207542864 |
126 | M>L | No |
ClinGen gnomAD |
|
|
CA73693984 rs958751781 |
126 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2349291 rs761346966 |
128 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1250109146 CA352976615 |
135 | A>T | No |
ClinGen gnomAD |
|
|
CA352976619 rs1189333799 |
136 | E>K | No |
ClinGen gnomAD |
|
|
rs773078389 CA2349293 |
138 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2349296 rs150836537 |
139 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349295 rs150836537 |
139 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553628118 CA352976642 RCV000614808 |
139 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1559462145 CA352976650 |
141 | E>K | No |
ClinGen Ensembl |
|
|
CA352976658 rs1403808001 |
142 | R>G | No |
ClinGen Ensembl |
|
|
CA2349300 rs757290932 |
145 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352976690 rs1416358661 |
146 | P>L | No |
ClinGen gnomAD |
|
|
rs536853368 CA2349301 |
147 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536853368 CA352976694 |
147 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA73694071 rs761520221 |
149 | W>C | No |
ClinGen TOPMed |
|
|
rs1242441971 CA352976719 |
151 | Q>K | No |
ClinGen gnomAD |
|
|
rs750589305 CA2349302 |
151 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA352976747 rs1465141240 |
153 | N>S | No |
ClinGen TOPMed |
|
|
rs1263003189 CA352976779 |
157 | M>K | No |
ClinGen gnomAD |
|
|
CA73695464 rs1048780344 |
158 | R>G | No |
ClinGen TOPMed |
|
|
rs558746708 CA2349321 |
158 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1186736676 CA352976790 |
159 | K>* | No |
ClinGen gnomAD |
|
|
rs752015037 CA2349322 |
160 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349323 rs755313380 |
163 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000601896 RCV002529285 CA2349324 rs150185028 |
163 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352976828 rs1389285730 |
165 | G>D | No |
ClinGen gnomAD |
|
|
rs755736437 CA2349326 |
165 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897347069 CA73695480 |
167 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA352976867 rs1372457799 |
170 | W>C | No |
ClinGen gnomAD |
|
|
rs1387026564 CA352976873 |
171 | D>V | No |
ClinGen gnomAD |
|
|
rs1181823409 CA352976870 |
171 | D>Y | No |
ClinGen TOPMed |
|
|
rs1323829707 CA352976882 |
172 | R>S | No |
ClinGen gnomAD |
|
|
rs1300138565 CA352976880 |
172 | R>T | No |
ClinGen gnomAD |
|
|
rs1575260655 CA352977557 |
173 | E>G | No |
ClinGen Ensembl |
|
|
rs1019315784 CA73707041 |
176 | T>M | No |
ClinGen Ensembl |
|
|
rs756695666 CA2349350 |
177 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA352977579 rs1322452155 |
177 | C>S | No |
ClinGen gnomAD |
|
|
CA352977582 rs1220925976 |
177 | C>Y | No |
ClinGen gnomAD |
|
|
rs778270773 CA2349351 |
178 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs745449757 CA2349352 |
180 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA352977616 rs1559472168 |
182 | Y>S | No |
ClinGen Ensembl |
|
|
rs771870820 CA2349353 |
183 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472114862 CA352977634 |
184 | W>* | No |
ClinGen gnomAD |
|
|
CA352977631 rs1559472174 |
184 | W>* | No |
ClinGen Ensembl |
|
|
rs1472114862 CA352977635 |
184 | W>C | No |
ClinGen gnomAD |
|
|
CA352977639 rs1179973977 |
185 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1419934926 CA352977642 |
185 | T>I | No |
ClinGen gnomAD |
|
|
CA352977638 rs1179973977 |
185 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352977645 rs1163473923 RCV000593156 |
186 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA73707053 rs900700721 |
187 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352977660 rs1410134143 |
188 | L>F | No |
ClinGen TOPMed |
|
|
CA352977669 rs1184992118 |
189 | F>C | No |
ClinGen TOPMed |
|
|
CA352977676 rs1370389789 |
190 | I>T | No |
ClinGen gnomAD |
|
|
rs780088018 CA73707056 |
191 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349355 rs140525535 |
193 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs537797830 CA2349356 |
194 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370413092 CA2349357 |
196 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352977739 rs1206167633 |
200 | Q>R | No |
ClinGen gnomAD |
|
|
CA73707070 rs890195483 |
202 | E>D | No |
ClinGen TOPMed |
|
|
CA352977753 rs1274152343 |
202 | E>Q | No |
ClinGen gnomAD |
|
|
CA352422141 rs1447288284 |
206 | N>S | No |
ClinGen gnomAD |
|
|
rs1173929955 CA352422153 |
207 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2349378 rs747999844 |
208 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148494354 CA2349379 |
209 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352422244 rs1347447715 |
214 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2349381 rs759498312 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1443403801 CA352422321 |
221 | D>V | No |
ClinGen gnomAD |
|
|
CA2349382 rs201361130 |
222 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1331698358 CA352422329 |
222 | E>K | No |
ClinGen TOPMed |
|
|
CA2349383 rs775913371 |
223 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs941177320 CA73572291 |
224 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1301996518 CA352422353 |
224 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs941177320 CA352422358 |
224 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2349386 rs764649976 |
225 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs764649976 CA2349385 |
225 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1246915283 CA352422387 |
227 | W>* | No |
ClinGen gnomAD |
|
|
rs764747411 CA2349388 |
228 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352422416 rs1559475853 |
230 | G>R | No |
ClinGen Ensembl |
|
|
CA2349390 rs757789406 |
231 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs750095504 CA2349389 |
231 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2349392 rs751182868 |
235 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352422498 rs1414561350 |
236 | K>T | No |
ClinGen gnomAD |
|
|
rs1324537170 CA352422539 |
241 | W>C | No |
ClinGen gnomAD |
|
|
CA352422533 rs1407120502 |
241 | W>R | No |
ClinGen gnomAD |
|
|
CA352422543 rs1575268363 |
242 | F>V | No |
ClinGen Ensembl |
|
|
CA2349394 rs781329860 |
243 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2349397 rs142506388 |
247 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349398 rs188421325 |
247 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA73579929 rs939979488 |
252 | M>T | No |
ClinGen TOPMed |
|
|
CA352423017 rs144694969 |
254 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV002538227 RCV000825769 CA2349412 rs201911936 |
255 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs752688322 CA2349413 |
255 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777607966 CA2349415 |
256 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2349416 rs749101802 |
257 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs758612799 CA2349417 |
258 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA352423105 rs1279753819 |
262 | W>* | No |
ClinGen TOPMed |
|
|
CA352423116 rs1435320881 |
263 | Y>C | No |
ClinGen TOPMed |
|
|
rs1204875217 CA352423143 |
265 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs909085466 CA73580016 |
267 | G>D | No |
ClinGen gnomAD |
|
|
rs1444643981 CA352423190 |
269 | Q>H | No |
ClinGen gnomAD |
|
|
CA2349420 rs768754342 |
271 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747041439 CA2349419 |
271 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1471838788 CA352423222 |
272 | W>S | No |
ClinGen gnomAD |
|
|
rs375191827 CA2349421 |
273 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748676805 CA2349422 |
276 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA352423263 rs1575277331 |
276 | C>R | No |
ClinGen Ensembl |
|
|
rs770272400 CA2349423 |
277 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773597324 CA352423316 |
280 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409193337 CA352423324 |
281 | L>M | No |
ClinGen TOPMed |
|
|
rs1365714928 CA352423332 |
282 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA352423336 rs1365714928 |
282 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA73581250 rs941484445 |
287 | V>I | No |
ClinGen TOPMed |
|
|
rs780209500 CA2349437 |
288 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs751784781 CA2349438 |
288 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781328326 CA352423502 |
288 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751784781 CA2349439 |
288 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352423509 rs1165175936 |
289 | G>E | No |
ClinGen TOPMed |
|
|
CA73581280 rs972898675 |
290 | Q>* | No |
ClinGen Ensembl |
|
|
rs1314350298 CA352423596 |
297 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1298271776 CA352423603 |
298 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs567270005 CA2349446 |
299 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349445 rs771430197 |
299 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349449 rs771914374 |
302 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764041251 CA2349452 |
306 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA73581373 rs934960438 |
306 | I>T | No |
ClinGen TOPMed |
|
|
CA2349453 rs753749871 |
307 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73581400 rs537811830 |
310 | S>C | No |
ClinGen 1000Genomes |
|
|
CA352423744 rs761528611 |
311 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA73581414 CA352423749 rs765029432 |
312 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349455 rs765029432 |
312 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750286318 CA2349456 |
315 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352423790 rs1325921145 |
316 | P>L | No |
ClinGen TOPMed |
|
|
rs756182074 CA2349460 |
318 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2349462 rs149441186 |
322 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349464 rs71645922 RCV000220287 RCV000676564 |
324 | H>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs553930492 CA73581478 |
325 | S>I | No |
ClinGen 1000Genomes |
|
|
CA2349466 rs746272426 |
326 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2349465 rs746272426 |
326 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1020095683 CA73581494 |
328 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA352423944 rs1442678733 |
330 | A>G | No |
ClinGen gnomAD |
|
|
CA2349468 rs760190347 |
333 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266440069 CA352423985 |
334 | A>T | No |
ClinGen gnomAD |
|
|
CA2349469 rs768054581 |
336 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1156334699 CA352424040 |
340 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352424230 rs1229330641 |
341 | C>F | No |
ClinGen gnomAD |
|
|
rs1306681916 CA352424248 |
343 | T>A | No |
ClinGen gnomAD |
|
|
rs778984847 CA2349493 |
343 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs143856947 CA2349495 |
345 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143856947 CA2349496 |
345 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2349497 rs143226025 |
347 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352424302 rs1168789437 |
348 | V>G | No |
ClinGen gnomAD |
|
|
CA2349499 rs757432836 |
348 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352424308 rs1419315677 |
349 | N>D | No |
ClinGen gnomAD |
|
|
rs1317731930 CA352424345 |
352 | T>A | No |
ClinGen gnomAD |
|
|
rs1360238575 CA352424385 |
355 | E>G | No |
ClinGen gnomAD |
|
|
rs1575285016 CA352424396 |
356 | V>G | No |
ClinGen Ensembl |
|
|
CA2349502 rs758731196 |
356 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2349506 rs754565210 |
359 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs575202634 CA2349504 |
359 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575202634 CA2349505 |
359 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264986799 CA352424474 |
364 | A>G | No |
ClinGen TOPMed |
|
|
rs780846853 CA2349507 |
364 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352424511 rs1217089502 |
367 | E>V | No |
ClinGen TOPMed |
|
|
rs1212568814 CA352424546 |
371 | D>A | No |
ClinGen gnomAD |
|
|
rs769300447 CA2349509 |
371 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201875571 CA352424576 |
374 | I>L | No |
ClinGen TOPMed |
|
|
rs777256266 CA2349527 |
376 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748873353 CA2349528 |
377 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2349531 rs567528692 |
378 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1241593802 CA352425154 |
378 | S>N | No |
ClinGen Ensembl |
|
|
rs1446568763 CA352425165 COSM730776 |
379 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1301281375 CA352425176 |
380 | S>T | No |
ClinGen gnomAD |
|
|
CA352425188 rs1258161213 |
381 | S>* | No |
ClinGen TOPMed |
|
|
rs1480148080 CA352425245 |
386 | L>F | No |
ClinGen TOPMed |
|
|
CA2349533 rs1553634787 |
387 | A>T | No |
ClinGen Ensembl |
|
|
CA73589927 rs372629611 |
391 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1023991496 CA73589952 |
395 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs770208079 CA2349537 |
395 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA352425368 rs1290630511 |
398 | I>T | No |
ClinGen TOPMed |
|
|
CA2349538 rs773142741 |
399 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs766754956 CA2349540 |
404 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2349541 rs752109763 |
406 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181657235 CA352425458 |
407 | R>G | No |
ClinGen gnomAD |
|
|
rs1362183731 CA352425461 |
407 | R>K | No |
ClinGen gnomAD |
|
|
CA352425470 rs1473801037 |
408 | L>M | No |
ClinGen gnomAD |
|
|
CA352425491 rs1559485195 |
410 | S>G | No |
ClinGen Ensembl |
|
|
CA352425514 rs1164119449 |
412 | A>T | No |
ClinGen gnomAD |
|
|
rs767852472 CA2349544 |
413 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000998063 rs747559986 |
416 | G>missing | No |
ClinVar dbSNP |
|
|
CA352425568 rs1165323341 |
416 | G>D | No |
ClinGen TOPMed |
|
|
rs1409229198 CA352425573 |
417 | M>T | No |
ClinGen TOPMed |
|
|
rs763616548 CA2349566 |
417 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352425585 rs1201491864 |
419 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2349567 rs567281888 |
419 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352425598 rs1408683756 |
421 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764790990 CA2349569 |
421 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749969513 CA2349570 |
422 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA352425613 rs1248864164 |
423 | F>S | No |
ClinGen gnomAD |
|
|
rs202154816 CA2349572 |
426 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879255606 CA352425656 |
430 | A>G | No |
ClinGen TOPMed |
|
|
CA2349574 rs754823324 |
430 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs373174007 CA73592174 |
431 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349576 rs373174007 |
431 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777797843 CA2349575 |
431 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs201066231 CA2349577 |
432 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1025433672 CA73592180 |
434 | R>G | No |
ClinGen TOPMed |
|
|
CA352425698 rs1385241087 |
438 | D>H | No |
ClinGen gnomAD |
|
|
rs1385241087 CA352425696 |
438 | D>N | No |
ClinGen gnomAD |
|
|
rs1293916550 CA352425715 |
440 | T>I | No |
ClinGen gnomAD |
|
|
CA2349580 rs772523286 |
442 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs764534914 CA2349584 |
449 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2349586 COSM1045157 rs200313557 |
451 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA2349585 rs188252907 |
451 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2349587 rs572177274 |
453 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203564287 CA352425833 |
453 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1575289432 CA352425844 |
454 | Y>D | No |
ClinGen Ensembl |
|
|
rs1345101645 CA352425863 |
455 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA352425896 rs1386261904 |
459 | I>V | No |
ClinGen TOPMed |
|
|
CA73592267 rs866066129 |
460 | P>S | No |
ClinGen Ensembl |
|
|
rs565428465 CA73592304 |
462 | V>I | No |
ClinGen Ensembl |
|
|
rs766352263 CA352425953 |
464 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs766352263 CA2349590 |
464 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352425969 rs1160749764 |
465 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1363832149 CA352425971 |
466 | V>I | No |
ClinGen gnomAD |
|
|
CA352426012 rs1254099632 |
469 | P>L | No |
ClinGen TOPMed |
|
|
CA2349593 rs374512213 |
470 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA352426024 rs1188557066 |
471 | P>A | No |
ClinGen TOPMed |
|
|
rs1188557066 CA352426026 |
471 | P>S | No |
ClinGen TOPMed |
|
|
rs1034883849 CA73592372 |
473 | P>S | No |
ClinGen TOPMed |
|
|
CA352426065 rs1393384493 |
475 | E>A | No |
ClinGen gnomAD |
|
|
rs1405933759 CA352426070 |
475 | E>D | No |
ClinGen gnomAD |
|
|
rs866983077 CA73592377 |
478 | P>S | No |
ClinGen Ensembl |
|
|
CA352426111 rs1344174852 |
479 | V>A | No |
ClinGen gnomAD |
|
|
rs369294976 CA2349594 |
479 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2349596 rs757474764 |
480 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2349595 rs747930348 |
480 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs373476357 CA2349597 |
481 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352426132 rs1267449589 |
482 | P>S | No |
ClinGen gnomAD |
|
|
CA352426154 rs745912201 |
484 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349598 rs745912201 |
484 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352426165 rs769111264 |
485 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352426163 rs199702518 |
485 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349601 rs199702518 |
485 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349600 rs199702518 |
485 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349602 rs769111264 |
485 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769447895 CA2349605 |
486 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2349606 rs773002970 |
489 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1227638320 CA352426207 |
489 | G>V | No |
ClinGen TOPMed |
|
|
CA2349608 rs762492893 |
492 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1424827018 CA352426246 |
493 | P>R | No |
ClinGen gnomAD |
|
|
CA352426241 rs1362728627 |
493 | P>T | No |
ClinGen TOPMed |
|
|
CA2349611 rs759483641 |
494 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA352426252 rs1163372745 |
494 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs537114579 CA352426281 |
497 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537114579 CA2349613 |
497 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352426296 rs1389727874 |
498 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2349614 rs755896764 |
501 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs924018417 CA73592571 |
502 | V>A | No |
ClinGen TOPMed |
|
|
CA352426369 rs1575289629 |
504 | C>S | No |
ClinGen Ensembl |
|
|
rs750659632 CA2349616 |
505 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779044989 CA2349615 |
505 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1290787687 CA352426388 |
506 | C>Y | No |
ClinGen gnomAD |
|
|
CA352426401 rs1375310840 |
507 | P>S | No |
ClinGen TOPMed |
|
|
CA73595193 rs745738153 |
509 | C>Y | No |
ClinGen Ensembl |
|
|
CA352426671 rs1264508196 |
513 | A>S | No |
ClinGen gnomAD |
|
|
CA352426676 rs1378801465 |
514 | K>E | No |
ClinGen TOPMed |
|
|
rs763866798 CA2349635 |
515 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs139787931 CA2349636 |
517 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139787931 CA352426701 |
517 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427282398 CA352426715 |
520 | M>L | No |
ClinGen gnomAD |
|
|
CA352426732 rs1179182705 |
522 | T>A | No |
ClinGen gnomAD |
|
|
CA2349640 CA229150 rs483352739 RCV000087224 |
528 | W>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1431698381 CA352426778 |
529 | Y>H | No |
ClinGen gnomAD |
|
|
rs748588001 CA2349641 |
534 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs756751096 CA2349642 |
536 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377742128 CA2349643 |
537 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1285108826 CA352426866 |
541 | S>N | No |
ClinGen gnomAD |
|
|
rs1230582444 CA352426881 |
541 | S>R | No |
ClinGen gnomAD |
|
|
CA352426904 rs1403628485 |
544 | N>K | No |
ClinGen TOPMed |
|
|
CA2349658 rs767488008 |
546 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367957046 CA2349661 |
549 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410933546 CA352426938 |
550 | Y>S | No |
ClinGen TOPMed |
|
|
rs1225209196 CA352426951 |
551 | W>* | No |
ClinGen gnomAD |
|
|
rs1209939319 CA352426974 |
555 | D>H | No |
ClinGen gnomAD |
|
|
CA352426992 rs1269970737 |
557 | Y>C | No |
ClinGen gnomAD |
|
|
rs1490335128 CA352427000 |
558 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352426996 rs1175308459 |
558 | I>V | No |
ClinGen TOPMed |
|
|
CA352427010 rs1233053092 |
560 | G>R | No |
ClinGen TOPMed |
|
|
CA352427015 rs1197861512 |
561 | K>E | No |
ClinGen gnomAD |
|
|
CA2349663 rs757704979 |
563 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2349662 rs531046259 |
563 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368663780 CA2349665 |
565 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559489409 CA352427053 |
566 | M>I | No |
ClinGen Ensembl |
|
|
CA2349666 rs771828050 |
566 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352427050 rs1365911505 |
566 | M>T | No |
ClinGen gnomAD |
|
|
rs774832576 CA2349667 |
569 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352427083 rs1321476139 |
570 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352427082 rs1321476139 |
570 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs991863991 CA73597617 |
571 | A>V | No |
ClinGen TOPMed |
|
|
CA352427091 rs1442288087 |
572 | R>G | No |
ClinGen gnomAD |
|
|
CA352427096 rs1278387946 |
572 | R>S | No |
ClinGen gnomAD |
|
|
CA73597635 rs956423759 |
576 | H>Y | No |
ClinGen Ensembl |
|
|
rs776581310 CA2349670 |
579 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs192626950 CA2349672 |
580 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349671 rs192626950 |
580 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349674 rs759645266 |
582 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1181180156 CA352427189 RCV000616337 |
585 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA352427191 rs1450002740 |
585 | K>T | No |
ClinGen Ensembl |
|
|
rs772606730 CA73597648 |
586 | H>D | No |
ClinGen gnomAD |
|
|
rs767826668 CA2349675 |
586 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2349676 rs752667480 |
587 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2349689 rs780738370 |
588 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352427222 rs1242748647 |
588 | E>K | No |
ClinGen gnomAD |
|
|
rs772859137 CA2349692 |
595 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352427286 rs1365714698 |
597 | G>D | No |
ClinGen gnomAD |
|
|
rs1336748553 CA352427294 |
599 | I>F | No |
ClinGen gnomAD |
|
|
rs1575305374 CA352427308 |
601 | G>R | No |
ClinGen Ensembl |
|
|
CA2349696 rs775780980 |
603 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2349697 rs760775440 |
603 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs147745374 CA2349698 |
605 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349701 rs765823843 |
608 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750707347 CA2349702 |
610 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA352427371 rs1207073969 |
611 | Y>C | No |
ClinGen gnomAD |
|
|
CA352427388 RCV000615779 rs1447357435 |
614 | R>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2349703 rs758823074 |
614 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1417459752 CA352427420 |
618 | D>V | No |
ClinGen TOPMed |
|
|
rs779506614 CA2349704 |
618 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2349706 rs754691525 |
620 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA352427756 rs1268401733 |
621 | G>D | No |
ClinGen gnomAD |
|
|
rs780648419 CA2349707 |
621 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs374061060 CA2349719 |
623 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361537828 CA352427821 |
627 | A>V | No |
ClinGen Ensembl |
|
|
CA352427832 rs1202182953 |
628 | K>T | No |
ClinGen gnomAD |
|
|
rs1307707679 CA352427881 |
632 | K>N | No |
ClinGen gnomAD |
|
|
CA2349720 rs766759811 |
632 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2349721 rs766759811 |
632 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs754601651 CA2349722 |
633 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349723 rs767177770 |
635 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575606480 CA2349724 |
636 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139067803 CA2349726 |
641 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349729 rs138012553 |
646 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349730 rs539920212 |
647 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745709728 CA2349731 |
648 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs375602743 CA73579294 |
652 | E>K | No |
ClinGen TOPMed |
|
|
rs376925922 CA73579313 |
655 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs1387753766 CA352428211 |
657 | Y>C | No |
ClinGen TOPMed |
|
|
CA2349736 rs773230403 |
659 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349737 rs763484078 |
661 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352428261 rs763484078 |
661 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914797921 CA73579350 |
662 | I>V | No |
ClinGen Ensembl |
|
|
rs201126565 CA2349740 |
663 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384797848 CA352428285 |
664 | L>V | No |
ClinGen gnomAD |
|
|
CA352428307 rs1229161770 |
666 | I>V | No |
ClinGen TOPMed |
|
|
rs566059383 CA2349743 |
671 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349744 rs763659716 |
673 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs112423732 CA73579400 |
673 | E>K | No |
ClinGen 1000Genomes |
|
|
CA73579402 rs902210877 |
675 | D>N | No |
ClinGen Ensembl |
|
|
CA2349746 rs757200777 |
676 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779019998 CA2349747 |
677 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352428456 rs1244605171 |
678 | W>* | No |
ClinGen gnomAD |
|
|
CA352428448 rs1303256517 |
678 | W>R | No |
ClinGen TOPMed |
|
|
CA352428462 rs1444793220 |
679 | D>N | No |
ClinGen gnomAD |
|
|
CA2349748 rs745619512 |
680 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs141661347 CA73579437 |
682 | T>A | No |
ClinGen ESP |
|
|
rs1315042296 CA352428602 |
684 | A>D | No |
ClinGen TOPMed |
|
|
CA352428631 rs1435379511 |
687 | G>R | No |
ClinGen TOPMed |
|
|
rs779962003 CA2349768 |
694 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751358079 CA2349769 |
694 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777887373 CA2349771 |
697 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218340010 CA352428752 |
698 | L>V | No |
ClinGen gnomAD |
|
|
rs139541494 CA2349772 |
700 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349774 rs771007598 |
701 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349775 rs746365858 |
701 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746365858 CA352428787 |
701 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771007598 CA2349773 |
701 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487611126 CA352428792 |
702 | F>L | No |
ClinGen gnomAD |
|
|
CA2349777 rs775903529 |
705 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs776153395 CA352428880 |
709 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776153395 CA2349780 |
709 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349782 rs764828665 |
712 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773170733 CA352428901 |
713 | Q>* | No |
ClinGen gnomAD |
|
|
CA73580652 rs773170733 |
713 | Q>K | No |
ClinGen gnomAD |
|
|
rs915809217 CA73580654 |
714 | P>L | No |
ClinGen gnomAD |
|
|
CA2349783 rs750021523 |
714 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73580659 rs1018230796 |
717 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA352428933 rs1435135528 |
718 | S>I | No |
ClinGen gnomAD |
|
|
rs1375101308 CA352428943 |
719 | N>K | No |
ClinGen gnomAD |
|
|
CA352428940 rs1272514287 |
719 | N>S | No |
ClinGen gnomAD |
|
|
rs762960792 CA2349784 |
720 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349786 rs201214367 |
723 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs578197079 CA2349789 |
724 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349788 rs777991214 |
724 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352428981 rs1559495163 |
725 | A>G | No |
ClinGen Ensembl |
|
|
CA2349790 rs757539328 |
725 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA352428978 rs757539328 |
725 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352428991 rs1470659773 |
727 | K>E | No |
ClinGen gnomAD |
|
|
RCV000222755 CA2349792 RCV000756298 rs36054230 VAR_052638 |
727 | K>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778930555 CA2349791 |
727 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2349793 rs772521323 |
728 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs371138400 CA2349795 |
730 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371138400 CA2349794 |
730 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1165166420 CA352429010 |
730 | E>K | No |
ClinGen gnomAD |
|
|
CA2349797 rs777112747 |
734 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349799 RCV001449843 rs141011840 RCV000594329 |
735 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs540323523 CA73580744 |
738 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs766273051 CA2349802 |
738 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2349801 rs762582309 |
738 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA352429427 rs1218107331 |
742 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352429476 rs368651897 |
745 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780552213 CA352429527 |
749 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780552213 CA2349814 |
749 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138699045 CA2349815 |
753 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190211862 CA352429596 |
754 | S>C | No |
ClinGen TOPMed |
|
|
rs879255408 RCV000239073 CA10585978 |
755 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs773222933 CA73582091 |
755 | Q>P | No |
ClinGen TOPMed |
|
|
CA73582081 rs773222933 |
755 | Q>R | No |
ClinGen TOPMed |
|
|
CA352429629 rs1478071728 |
757 | M>V | No |
ClinGen gnomAD |
|
|
RCV000215759 rs781382275 RCV001853456 CA2349817 |
760 | S>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1420799006 CA352429672 |
760 | S>N | No |
ClinGen gnomAD |
|
|
CA352429686 rs1459392811 |
761 | N>D | No |
ClinGen TOPMed |
|
|
CA2349818 rs369702791 |
761 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868411376 CA73582164 |
762 | A>D | No |
ClinGen Ensembl |
|
|
rs1213367435 CA352429708 |
763 | L>V | No |
ClinGen TOPMed |
|
|
rs769530594 CA352429727 |
764 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349819 rs769530594 |
764 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79254420 CA73585467 |
765 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79254420 CA2349852 |
765 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759665269 CA2349853 |
765 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs759665269 CA352430055 |
765 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2349854 rs768078184 |
766 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352430058 rs1157159929 |
766 | A>T | No |
ClinGen gnomAD |
|
|
CA352430062 rs768078184 |
766 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753243043 CA2349856 |
769 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs551442373 CA2349857 |
769 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551442373 CA2349858 |
769 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349860 rs143901188 |
770 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352430088 rs1310264352 |
771 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1310264352 CA352430087 |
771 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2349862 rs745310514 |
776 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349863 rs771587951 |
778 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA352430150 rs1245387659 |
779 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2349864 rs779601198 |
780 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746944332 CA2349865 |
780 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1441620832 CA352430161 |
781 | L>F | No |
ClinGen TOPMed |
|
|
CA352430176 rs1367870200 |
783 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2349867 rs776390761 |
784 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2349869 rs770989921 |
789 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs919805149 CA73585527 |
791 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1162713056 CA352430242 |
794 | H>R | No |
ClinGen TOPMed |
|
|
CA2349871 rs567696424 |
795 | V>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs1332057745 CA352430261 |
797 | S>* | No |
ClinGen gnomAD |
|
|
rs1463597119 CA352430257 |
797 | S>T | No |
ClinGen gnomAD |
|
|
rs1399869316 CA352430276 |
799 | I>S | No |
ClinGen gnomAD |
|
|
rs1444786572 CA352430285 |
800 | W>* | No |
ClinGen gnomAD |
|
|
CA352430293 rs1329098441 |
802 | G>S | No |
ClinGen gnomAD |
|
|
CA2349893 rs543532919 |
804 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1476878916 CA352430791 |
805 | L>P | No |
ClinGen gnomAD |
|
|
rs762289663 CA2349895 |
806 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs765634048 CA73597771 RCV000598539 |
807 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2349896 rs765634048 |
807 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349900 rs144883798 |
811 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766044153 CA2349899 |
811 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2349901 rs754494706 |
812 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1037703850 CA73597809 |
812 | A>V | No |
ClinGen Ensembl |
|
|
rs748108547 CA2349903 |
813 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352430877 rs1218248217 |
818 | A>V | No |
ClinGen gnomAD |
|
|
CA352430895 rs1299707340 |
821 | L>P | No |
ClinGen gnomAD |
|
|
rs777601875 CA2349905 |
822 | L>R | No |
ClinGen ExAC TOPMed |
|
|
CA352430912 rs1356277981 |
824 | A>P | No |
ClinGen gnomAD |
|
|
CA352430915 rs1433745435 |
824 | A>V | No |
ClinGen TOPMed |
|
|
CA352430939 rs1285934893 |
828 | V>L | No |
ClinGen gnomAD |
|
|
CA352430937 rs1285934893 |
828 | V>M | No |
ClinGen gnomAD |
|
|
CA2349907 rs201306509 |
830 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187335778 CA2349909 |
832 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349911 rs529873664 |
834 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349912 rs765716312 |
836 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773520078 CA2349913 |
837 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2349914 rs763342331 |
840 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA2349916 rs751197438 |
841 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs765956211 CA2349915 |
841 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765956211 CA73597857 |
841 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313617588 CA352431040 |
844 | L>V | No |
ClinGen gnomAD |
|
|
CA352431062 rs1490015442 |
845 | I>M | No |
ClinGen TOPMed |
|
|
CA352431060 rs1318923846 |
845 | I>T | No |
ClinGen gnomAD |
|
|
rs372207839 CA2349935 |
846 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538066955 CA2349936 |
847 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538066955 CA352431073 |
847 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349937 rs376815977 |
848 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200160782 CA2349938 |
849 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352431085 rs1156448595 |
849 | A>S | No |
ClinGen gnomAD |
|
|
CA2349940 rs753814655 |
850 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs757332502 CA2349941 |
851 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2349942 rs778819835 |
851 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs750297160 CA2349943 |
852 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs755182456 CA2349945 |
854 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2349944 rs755182456 RCV000728062 |
854 | P>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2349947 rs201771643 |
857 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349950 rs145504843 |
861 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs556149785 CA2349949 |
861 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020755143 CA73601881 |
862 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs774649430 CA2349952 |
863 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs771687236 CA2349954 |
868 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279020614 CA352431209 |
869 | F>I | No |
ClinGen gnomAD |
|
|
CA2349956 rs377004763 |
873 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA73601957 rs953661687 |
874 | E>D | No |
ClinGen Ensembl |
|
|
CA73601960 rs978378033 |
875 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA352431257 rs1192233849 |
876 | G>A | No |
ClinGen gnomAD |
|
|
rs1371009705 CA352431271 |
878 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376326697 CA2349959 |
879 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765292534 CA2349960 |
881 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2349961 rs750197363 |
883 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs758135169 CA2349962 |
883 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767724195 CA2349963 |
884 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1361661008 CA352431309 |
885 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2349964 rs752855259 |
886 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756395881 CA2349965 |
886 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349966 rs777803539 |
889 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2349967 rs749391494 |
891 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352431357 rs990049514 |
892 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA73602061 rs990049514 |
892 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352431361 rs1346858833 |
893 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1208721953 CA352431366 |
894 | T>A | No |
ClinGen gnomAD |
|
|
CA352431373 rs1288097820 |
895 | A>T | No |
ClinGen gnomAD |
|
|
rs1488550209 CA352431378 |
896 | L>V | No |
ClinGen gnomAD |
|
|
CA352431384 rs1259023429 |
897 | I>V | No |
ClinGen gnomAD |
|
|
CA352431423 rs1330097044 |
902 | Q>H | No |
ClinGen gnomAD |
|
|
CA352431426 rs1316012613 |
903 | D>H | No |
ClinGen TOPMed |
|
|
rs775991374 CA2349974 |
904 | D>W | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with Q15031
[MIM: 615300]: Perrault syndrome 4 (PRLTS4)
An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:23541342}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617021]: Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)
A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. {ECO:0000269|PubMed:26537577}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:23541342}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. {ECO:0000269|PubMed:26537577}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q15031
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Aminoacyl-tRNA synthetase, class I, conserved site | 91 - 102 | IPR001412 |
| domain | Aminoacyl-tRNA synthetase, class Ia | 61 - 318 | IPR002300-1 |
| domain | Aminoacyl-tRNA synthetase, class Ia | 444 - 600 | IPR002300-2 |
| domain | Aminoacyl-tRNA synthetase, class Ia | 638 - 678 | IPR002300-3 |
| domain | Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding | 726 - 852 | IPR013155 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.4 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminoacyl-tRNA editing activity | The hydrolysis of an incorrectly aminoacylated tRNA. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| leucine-tRNA ligase activity | Catalysis of the reaction: L-leucine + ATP + tRNA(Leu) = AMP + diphosphate + 2 H(+) + Leu-tRNA(Leu). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| leucyl-tRNA aminoacylation | The process of coupling leucine to leucyl-tRNA, catalyzed by leucyl-tRNA synthetase. The leucyl-tRNA synthetase is a class-I synthetase. The activated amino acid is transferred to the 2'-OH group of a leucine-accetping tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification. |
| mitochondrial translation | The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. |
| tRNA aminoacylation for protein translation | The synthesis of aminoacyl tRNA by the formation of an ester bond between the 3'-hydroxyl group of the most 3' adenosine of the tRNA and the alpha carboxylic acid group of an amino acid, to be used in ribosome-mediated polypeptide synthesis. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XEA0 | EMB2369 | Leucine--tRNA ligase, chloroplastic/mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASVWQRLGF | YASLLKRQLN | GGPDVIKWER | RVIPGCTRSI | YSATGKWTKE | YTLQTRKDVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KWWHQRIKEQ | ASKISEADKS | KPKFYVLSMF | PYPSGKLHMG | HVRVYTISDT | IARFQKMRGM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVINPMGWDA | FGLPAENAAV | ERNLHPQSWT | QSNIKHMRKQ | LDRLGLCFSW | DREITTCLPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YYKWTQYLFI | KLYEAGLAYQ | KEALVNWDPV | DQTVLANEQV | DEHGCSWRSG | AKVEQKYLRQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WFIKTTAYAK | AMQDALADLP | EWYGIKGMQA | HWIGDCVGCH | LDFTLKVHGQ | ATGEKLTAYT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ATPEAIYGTS | HVAISPSHRL | LHGHSSLKEA | LRMALVPGKD | CLTPVMAVNM | LTQQEVPVVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAKADLEGSL | DSKIGIPSTS | SEDTILAQTL | GLAYSEVIET | LPDGTERLSS | SAEFTGMTRQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DAFLALTQKA | RGKRVGGDVT | SDKLKDWLIS | RQRYWGTPIP | IVHCPVCGPT | PVPLEDLPVT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LPNIASFTGK | GGPPLAMASE | WVNCSCPRCK | GAAKRETDTM | DTFVDSAWYY | FRYTDPHNPH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SPFNTAVADY | WMPVDLYIGG | KEHAVMHLFY | ARFFSHFCHD | QKMVKHREPF | HKLLAQGLIK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GQTFRLPSGQ | YLQREEVDLT | GSVPVHAKTK | EKLEVTWEKM | SKSKHNGVDP | EEVVEQYGID |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TIRLYILFAA | PPEKDILWDV | KTDALPGVLR | WQQRLWTLTT | RFIEARASGK | SPQPQLLSNK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EKAEARKLWE | YKNSVISQVT | THFTEDFSLN | SAISQLMGLS | NALSQASQSV | ILHSPEFEDA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LCALMVMAAP | LAPHVTSEIW | AGLALVPRKL | CAHYTWDASV | LLQAWPAVDP | EFLQQPEVVQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MAVLINNKAC | GKIPVPQQVA | RDQDKVHEFV | LQSELGVRLL | QGRSIKKSFL | SPRTALINFL |
| VQD |