P30038
PR
Gene name |
ALDH4A1 (ALDH4, P5CDH) |
Protein name |
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial |
Names |
P5C dehydrogenase, Aldehyde dehydrogenase family 4 member A1, L-glutamate gamma-semialdehyde dehydrogenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8659 |
EC number |
1.2.1.88: With NAD(+) or NADP(+) as acceptor |
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
5 structures for P30038
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3V9G | X-ray | 250 A | A/B/C/D | 18-563 | PDB |
| 3V9H | X-ray | 240 A | A/B/C/D | 18-563 | PDB |
| 3V9I | X-ray | 285 A | A/B/C/D | 18-563 | PDB |
| 4OE5 | X-ray | 195 A | A/B/C/D | 18-563 | PDB |
| AF-P30038-F1 | Predicted | AlphaFoldDB |
580 variants for P30038
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA338769924 RCV001049688 rs1212781668 |
6 | P>S | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002288462 RCV000004211 rs387906314 |
8 | L>missing | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000541260 CA647556 rs146450609 VAR_002259 |
16 | P>L | Deficiency of pyrroline-5-carboxylate reductase allele ALDH4A1*4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1935834310 RCV001071807 |
20 | A>D | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150027463 RCV001252137 |
35 | E>K | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001466252 CA647460 rs114609576 |
60 | R>Q | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA647457 rs141327098 RCV001250052 |
67 | V>M | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA647450 RCV000864659 rs76762510 |
82 | V>M | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001252134 RCV001303299 CA647396 rs371321697 |
113 | R>Q | Intellectual disability Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA647397 rs142923662 RCV000805455 |
113 | R>W | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA647387 COSM3360551 COSM3360552 RCV001097260 rs758188756 |
121 | I>T | kidney Deficiency of pyrroline-5-carboxylate reductase [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA647386 RCV001252139 rs147600006 RCV000343942 |
123 | D>E | Intellectual disability Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1935165464 RCV001351044 |
126 | Q>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001772316 CA647381 RCV001097259 rs147348663 |
127 | I>M | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001100997 rs1935164061 |
133 | D>Y | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000648055 RCV001252138 CA647374 rs139640415 |
138 | P>L | Intellectual disability Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1146109 RCV001314154 COSM677427 CA18781109 rs942019101 |
139 | R>C | lung Variant assessed as Somatic; 0.0 impact. oesophagus Deficiency of pyrroline-5-carboxylate reductase [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001336081 CA338760202 rs368241243 |
139 | R>L | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA647371 RCV000388087 rs377259750 |
141 | A>T | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3689225 COSM3689224 RCV000873401 rs113846237 CA647368 |
145 | A>T | large_intestine Deficiency of pyrroline-5-carboxylate reductase [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10608627 RCV000273912 rs886045706 |
149 | V>E | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001252135 CA647348 rs774464848 |
155 | V>M | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001100996 rs201780333 RCV000993931 CA647341 |
163 | A>T | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369957092 RCV000374270 CA647339 |
164 | A>P | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001252136 rs923744167 |
167 | I>F | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA647332 RCV001338465 rs767459105 RCV001815540 |
171 | R>Q | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001341871 CA647320 rs757819366 |
190 | P>L | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA647319 RCV000864303 rs72936434 |
195 | T>M | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000791062 CA647284 rs778113718 RCV002477796 |
220 | A>P | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA647222 RCV001064799 rs376422570 |
233 | K>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002556034 rs558761793 RCV001100734 CA647213 |
247 | R>L | Deficiency of pyrroline-5-carboxylate reductase Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA647205 rs143835001 RCV001304399 |
256 | P>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10608610 rs141843191 RCV000304277 |
267 | P>H | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1934975074 RCV001049536 |
281 | G>V | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
CA647168 rs746880995 RCV001329751 |
292 | K>Q | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA338752014 RCV001100732 rs1272594909 |
325 | R>H | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs767652523 RCV001299888 CA647113 |
332 | V>M | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000004210 rs137852937 CA116567 VAR_002260 |
352 | S>L | Deficiency of pyrroline-5-carboxylate reductase HYRPRO2; allele ALDH4A1*3; loss of enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs766376495 RCV001298305 |
354 | L>F | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071526 rs758300845 CA647086 |
357 | P>L | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs145243354 CA647085 COSM677429 COSM1146107 RCV000877952 |
358 | H>R | lung Deficiency of pyrroline-5-carboxylate reductase [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA647081 RCV000303065 rs763793413 |
361 | W>S | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA647077 RCV000813570 rs770756077 |
365 | K>Q | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs41306567 RCV000871988 CA647076 |
366 | G>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001097175 rs562344368 CA647074 |
367 | R>W | Variant assessed as Somatic; 0.0 impact. Deficiency of pyrroline-5-carboxylate reductase [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000528092 RCV001573216 rs41273175 CA647037 |
388 | F>L | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001097172 rs138308070 CA647005 |
399 | R>C | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001097171 rs749555399 CA647003 |
399 | R>H | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA646987 rs201762741 RCV000803103 CA646988 RCV002254944 |
412 | S>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs148586081 RCV000397710 CA646982 |
418 | G>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA646978 rs149414160 RCV000513466 RCV001088652 |
421 | C>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246965 CA338747118 CA338747119 rs1156594126 |
450 | G>R | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA646928 rs199828375 RCV000281340 |
457 | V>I | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001252133 CA646927 rs756299719 RCV002570491 |
459 | P>L | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000280165 rs377270740 CA646922 |
461 | D>N | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA646921 RCV000873144 rs150762865 |
462 | K>T | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_029337 RCV000379383 CA646912 rs2230709 |
470 | V>I | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA646910 RCV000549340 rs6695033 VAR_048903 |
473 | T>A | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762708368 RCV000527874 CA646903 |
480 | G>E | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766982473 CA18772220 RCV001301545 |
502 | G>S | Variant assessed as Somatic; 0.0 impact. Deficiency of pyrroline-5-carboxylate reductase [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs779536510 RCV001092591 RCV000004209 |
521 | G>missing | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552519 CA646818 rs61757683 |
528 | T>N | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001098814 rs1934507704 |
542 | T>A | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771061582 RCV000811498 CA646807 |
542 | T>M | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000526241 CA646803 rs72953172 |
544 | P>L | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776207072 CA646791 RCV001098812 |
560 | A>T | Deficiency of pyrroline-5-carboxylate reductase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA646788 RCV003165791 RCV000328400 rs528211463 |
561 | Y>N | Deficiency of pyrroline-5-carboxylate reductase Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1176899578 CA338769962 |
4 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1176899578 CA338769965 |
4 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1176899578 CA338769964 |
4 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1409050672 CA338769972 |
4 | P>S | No |
ClinGen gnomAD |
|
|
CA338769946 rs1253574722 |
5 | A>G | No |
ClinGen gnomAD |
|
|
CA338769841 rs1019213474 |
9 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA18792741 rs1019213474 |
9 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA338769816 rs1306402874 |
10 | R>H | No |
ClinGen gnomAD |
|
|
CA338769790 rs1442490888 |
12 | L>R | No |
ClinGen gnomAD |
|
|
CA338769741 rs1327169212 |
15 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA338769735 rs1327169212 |
15 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338769730 rs1389011191 |
16 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs963019760 CA18792717 |
17 | W>* | No |
ClinGen Ensembl |
|
|
CA338769695 rs1379951761 |
18 | T>I | No |
ClinGen gnomAD |
|
|
CA338769693 rs1033354029 CA18792716 |
19 | G>R | No |
ClinGen TOPMed |
|
|
rs1183407098 CA338769675 |
21 | G>R | No |
ClinGen TOPMed |
|
|
CA338769670 rs1455653791 |
21 | G>V | No |
ClinGen gnomAD |
|
|
CA647494 rs370773796 |
23 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338765664 rs370773796 |
23 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338765673 rs370773796 |
23 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778225599 CA647495 |
23 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554530902 CA647493 |
24 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767718897 CA647492 |
26 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA338765514 rs1569780056 |
27 | T>P | No |
ClinGen Ensembl |
|
|
CA338765411 rs1287013284 |
29 | S>F | No |
ClinGen gnomAD |
|
|
rs1569780033 CA338765427 |
29 | S>P | No |
ClinGen Ensembl |
|
|
rs1569779981 CA338765398 |
30 | L>P | No |
ClinGen Ensembl |
|
|
CA647491 rs146890942 |
31 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751780121 CA647490 |
32 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs148778436 CA338765258 |
34 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA647489 rs750484771 |
34 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs150027463 CA647487 |
35 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761596924 CA647485 |
36 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1173771924 CA338765160 |
37 | V>A | No |
ClinGen gnomAD |
|
|
CA338765177 rs746845254 |
37 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647482 rs746845254 |
37 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA647481 rs775103072 |
41 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA338765051 rs775103072 |
41 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA338765039 rs1355434956 |
42 | Q>R | No |
ClinGen TOPMed |
|
|
CA338765005 rs1189771144 |
44 | S>I | No |
ClinGen gnomAD |
|
|
CA338765009 rs1189771144 |
44 | S>N | No |
ClinGen gnomAD |
|
|
CA647480 rs771753408 |
44 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745381608 CA647479 |
45 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA18784537 rs763092915 |
46 | E>K | No |
ClinGen Ensembl |
|
|
CA647477 rs756807746 |
47 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199817627 CA338764956 |
47 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA647476 rs199817627 |
47 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338764954 rs1210956458 |
48 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377342430 CA647475 |
49 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA647472 rs780418351 |
51 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18784205 rs200915405 |
58 | K>M | No |
ClinGen 1000Genomes |
|
|
rs139447728 CA338764723 |
60 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139447728 CA647461 |
60 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338764702 rs534751701 |
61 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA647459 rs534751701 |
61 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1468976055 CA338764643 |
64 | I>V | No |
ClinGen TOPMed |
|
|
rs1469638231 CA338764604 |
66 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA338764614 rs1283569009 |
66 | C>S | No |
ClinGen TOPMed |
|
|
rs1319600530 CA338764580 |
70 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA647456 rs769268247 |
72 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338764524 rs1240253091 |
73 | V>A | No |
ClinGen gnomAD |
|
|
rs747364279 CA647455 |
74 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs780508077 CA647454 |
75 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393290767 CA338764477 |
76 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1457552315 CA338764447 |
77 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 77 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370369758 CA647451 |
78 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176693022 CA338764316 |
83 | S>L | No |
ClinGen gnomAD |
|
|
CA647428 rs752594612 |
84 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1444617914 CA338762074 |
84 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA338762007 rs1296370076 |
86 | N>K | No |
ClinGen gnomAD |
|
|
rs1033193785 CA18781770 |
86 | N>T | No |
ClinGen Ensembl |
|
|
CA338761876 rs1416259755 |
91 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338761847 rs1403081227 |
93 | K>T | No |
ClinGen gnomAD |
|
|
rs1175166462 CA338761661 |
98 | D>E | No |
ClinGen TOPMed |
|
|
rs1379152402 CA338761714 |
98 | D>N | No |
ClinGen TOPMed |
|
|
rs767488436 CA647427 |
98 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA647404 rs765032899 |
102 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205171545 CA338761321 |
103 | N>H | No |
ClinGen TOPMed |
|
|
CA647403 rs761377015 |
103 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776347456 CA647402 |
106 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647401 rs768125176 |
107 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760034715 CA338761105 |
108 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs760034715 CA647400 |
108 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771288789 CA338761000 |
112 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771288789 CA647398 |
112 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647395 rs371321697 |
113 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338760961 rs1389602525 |
114 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338760896 rs1441011771 |
117 | D>N | No |
ClinGen gnomAD |
|
|
rs1179783680 CA338760824 |
118 | L>P | No |
ClinGen gnomAD |
|
|
CA647389 rs746925102 |
120 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA647390 rs768726119 |
120 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA647388 rs779876883 |
121 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866521004 CA18781158 |
122 | A>V | No |
ClinGen Ensembl |
|
|
CA647383 rs753559441 |
124 | R>Q | No |
ClinGen ExAC |
|
|
COSM1337342 COSM1337341 CA647385 rs139487658 |
124 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355942811 CA338760578 |
125 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338760586 rs1355942811 |
125 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA338760547 rs1169067450 |
126 | Q>H | No |
ClinGen TOPMed |
|
|
CA647380 rs370509187 |
131 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210144374 CA338760310 |
134 | M>I | No |
ClinGen gnomAD |
|
|
CA338760332 rs552802655 |
134 | M>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs552802655 CA647378 |
134 | M>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs763369468 CA647375 |
136 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA18781118 rs929538566 |
137 | G>E | No |
ClinGen Ensembl |
|
|
CA338760250 rs1300902208 |
137 | G>R | No |
ClinGen gnomAD |
|
|
CA338760215 rs139640415 |
138 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1421185310 CA338760222 |
138 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA647372 rs368241243 |
139 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768730595 CA647370 |
144 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs113846237 CA338760049 |
145 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 146 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338760001 rs1372172300 |
146 | K>T | No |
ClinGen TOPMed |
|
|
rs1286766848 CA338759963 |
147 | T>I | No |
ClinGen gnomAD |
|
|
CA338759968 rs1286766848 |
147 | T>N | No |
ClinGen gnomAD |
|
|
rs1216019927 CA338759962 |
148 | M>L | No |
ClinGen gnomAD |
|
|
CA18781087 rs890980395 |
148 | M>T | No |
ClinGen TOPMed |
|
|
CA338759960 rs1216019927 |
148 | M>V | No |
ClinGen gnomAD |
|
|
CA338759913 rs886045706 |
149 | V>G | No |
ClinGen gnomAD |
|
|
CA338759893 rs1280663041 |
150 | G>E | No |
ClinGen gnomAD |
|
|
CA338759868 rs1366609496 |
151 | Q>E | No |
ClinGen gnomAD |
|
|
CA338759875 rs1366609496 |
151 | Q>K | No |
ClinGen gnomAD |
|
|
CA338758773 rs1411945655 |
152 | G>D | No |
ClinGen TOPMed |
|
|
CA338758733 rs1320095536 |
154 | T>A | No |
ClinGen gnomAD |
|
|
rs887625886 CA18780082 |
157 | Q>H | No |
ClinGen Ensembl |
|
|
rs770802753 CA647347 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs368287797 CA647344 |
160 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547682292 CA647342 |
162 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371138249 CA338758468 |
163 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA647340 rs371138249 |
163 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765782121 CA647338 |
164 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338758417 rs1435042713 |
166 | L>P | No |
ClinGen TOPMed |
|
|
rs1347770374 CA338758385 |
167 | I>T | No |
ClinGen TOPMed |
|
|
CA18780030 rs923744167 |
167 | I>V | No |
ClinGen Ensembl |
|
|
rs760752541 CA647335 |
168 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA647334 rs760752541 |
168 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338758224 rs767459105 |
171 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367696082 CA647333 |
171 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA647331 rs759713950 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA18780011 rs774413678 |
177 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647330 rs774413678 |
177 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18780005 rs915406168 |
178 | V>M | No |
ClinGen Ensembl |
|
|
rs1265672904 CA338758055 |
180 | L>M | No |
ClinGen gnomAD |
|
|
rs749074973 CA647328 |
182 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA647326 rs769633923 |
184 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647327 rs769633923 |
184 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647325 rs375023861 |
186 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA18779996 rs562677873 |
187 | S>G | No |
ClinGen Ensembl |
|
|
rs199723895 CA647324 |
187 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA647321 rs779387060 |
188 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138334153 CA647322 |
188 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338757814 rs1205647008 |
191 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA18779963 rs200142816 |
196 | V>L | No |
ClinGen gnomAD |
|
|
rs1434669933 CA338757717 |
197 | Y>F | No |
ClinGen gnomAD |
|
|
rs1179325804 CA338757722 |
197 | Y>H | No |
ClinGen gnomAD |
|
|
rs752816518 CA647316 |
198 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531481821 CA647317 |
198 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA647315 rs150413209 |
199 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA647314 rs150413209 |
199 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 199 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287493195 CA338757694 |
200 | L>R | No |
ClinGen gnomAD |
|
|
COSM677428 CA647298 COSM1146108 rs200662086 |
204 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 205 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA647297 rs561984134 |
205 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751831373 CA647296 |
205 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338757606 rs1219545012 |
206 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA647293 rs750304455 |
208 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763144347 CA647294 |
208 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs922876016 CA18779870 |
209 | P>S | No |
ClinGen Ensembl |
|
|
rs1402832186 CA338757542 |
211 | N>D | No |
ClinGen gnomAD |
|
|
CA647290 rs776547127 |
214 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768453823 CA647289 |
215 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775156461 CA647287 |
216 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA338757461 rs1444568269 |
217 | G>D | No |
ClinGen gnomAD |
|
|
CA647285 rs780298027 |
217 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 220 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA647283 rs199643601 |
220 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338757404 rs1339003841 |
222 | A>G | No |
ClinGen gnomAD |
|
|
rs781633117 CA647281 |
222 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA338757406 rs1339003841 |
222 | A>V | No |
ClinGen gnomAD |
|
|
CA647280 rs141713027 |
223 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA647279 rs751780250 |
223 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647276 rs201404998 |
226 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765985501 CA647228 |
227 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs912239414 CA18777548 |
228 | N>D | No |
ClinGen TOPMed |
|
|
CA647227 rs762546034 |
228 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764851299 CA647225 |
229 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338756347 rs1478950733 |
230 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239146205 CA338756164 |
234 | P>L | No |
ClinGen gnomAD |
|
|
rs267598256 CA18777535 |
234 | P>S | No |
ClinGen Ensembl |
|
|
CA647220 rs774603046 |
237 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA647219 rs771128483 |
238 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338756026 rs1294158454 |
239 | M>V | No |
ClinGen gnomAD |
|
|
rs1380780666 CA338755980 |
241 | A>P | No |
ClinGen gnomAD |
|
|
rs1380780666 CA338755983 |
241 | A>S | No |
ClinGen gnomAD |
|
|
CA338755950 rs1317770351 |
242 | S>G | No |
ClinGen gnomAD |
|
|
CA647216 rs769871159 |
242 | S>I | No |
ClinGen ExAC |
|
|
rs1454017644 CA338755917 |
243 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338755906 rs1405775462 |
244 | A>S | No |
ClinGen gnomAD |
|
|
CA647214 rs748025331 |
247 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338755819 rs558761793 |
247 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA647209 rs758064983 |
250 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372738622 CA647210 |
250 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1240999589 CA338755735 |
252 | A>T | No |
ClinGen gnomAD |
|
|
rs761432225 CA647206 |
255 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338755675 rs1569747166 |
257 | N>H | No |
ClinGen Ensembl |
|
|
COSM1667205 CA647204 COSM1667204 rs767952063 |
257 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1569747092 CA338755638 |
260 | Q>P | No |
ClinGen Ensembl |
|
|
rs759943005 CA647201 |
263 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA338755593 rs1374579310 |
264 | A>T | No |
ClinGen gnomAD |
|
|
CA647199 rs771301963 |
265 | D>E | No |
ClinGen ExAC |
|
|
CA647200 rs774640115 |
265 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA647197 rs141843191 |
267 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA338755552 rs1569746958 |
267 | P>S | No |
ClinGen Ensembl |
|
|
CA338755478 rs1367476663 |
273 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA338755477 rs1367476663 |
273 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769838452 CA647194 |
274 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA18777417 rs56096535 |
277 | E>K | No |
ClinGen Ensembl |
|
|
CA18777416 rs757878091 |
278 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647192 rs757878091 |
278 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338755410 rs1161278794 |
279 | L>F | No |
ClinGen gnomAD |
|
|
rs376208048 CA647191 |
280 | C>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA647190 rs746978700 |
282 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340770517 CA338755359 |
282 | I>V | No |
ClinGen TOPMed |
|
|
CA647189 rs779646061 |
284 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899681880 CA18777384 |
285 | T>A | No |
ClinGen Ensembl |
|
|
rs1489268198 CA338755313 |
285 | T>I | No |
ClinGen gnomAD |
|
|
CA647187 rs532080912 |
288 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA647186 rs150113425 |
289 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200799591 CA647169 |
290 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569738104 CA338754293 |
291 | F>Y | No |
ClinGen Ensembl |
|
|
rs771971715 CA647166 |
293 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338754164 rs1193283410 |
295 | W>* | No |
ClinGen gnomAD |
|
|
rs745699211 CA647165 |
296 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA338754016 rs1207467059 |
298 | V>M | No |
ClinGen gnomAD |
|
|
rs1462913047 CA338753990 |
299 | A>T | No |
ClinGen gnomAD |
|
|
rs1569737965 CA338753987 |
299 | A>V | No |
ClinGen Ensembl |
|
|
CA647163 rs756921102 |
300 | Q>* | No |
ClinGen ExAC |
|
|
CA338753889 rs1264192425 |
303 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338753854 rs201010428 |
304 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553074372 CA647161 |
304 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA647162 rs201010428 |
304 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs902755687 CA338753780 |
306 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA18776024 rs902755687 |
306 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1569737850 CA338753760 |
307 | T>P | No |
ClinGen Ensembl |
|
|
rs772789599 CA647160 |
310 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751984391 CA647159 |
310 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1467843359 CA338753623 |
314 | E>K | No |
ClinGen gnomAD |
|
|
CA338752375 rs1410016829 |
315 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1490526525 CA338752352 |
316 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219225970 CA338752241 |
318 | K>N | No |
ClinGen gnomAD |
|
|
CA338752239 rs1448689472 |
319 | N>H | No |
ClinGen gnomAD |
|
|
rs552112789 CA647126 |
320 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA647125 rs772730217 |
321 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA647123 rs150927009 |
322 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780624320 CA647121 |
323 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA647120 rs768179480 |
325 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768179480 CA338752021 |
325 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338752010 rs1272594909 |
325 | R>P | No |
ClinGen gnomAD |
|
|
COSM1295617 CA647119 rs139430775 COSM1295616 |
326 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA647116 rs144311914 |
329 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144311914 CA647115 |
329 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA338751851 rs1457041286 |
330 | E>G | No |
ClinGen gnomAD |
|
|
rs372376622 CA18774887 |
331 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA647112 rs767652523 |
332 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480901808 CA338751704 |
334 | S>N | No |
ClinGen gnomAD |
|
|
CA647111 rs759716094 |
335 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285508181 CA338751645 |
336 | T>I | No |
ClinGen gnomAD |
|
|
CA338751650 rs1569730723 |
336 | T>P | No |
ClinGen Ensembl |
|
|
CA338751625 rs1242615920 |
337 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762655314 CA647108 |
338 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463352057 CA338751561 |
338 | R>L | No |
ClinGen gnomAD |
|
|
rs368635653 CA647107 |
339 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338751450 rs769491686 CA338751443 |
341 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376049478 CA338751428 |
342 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376049478 CA647105 |
342 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338751346 rs927843333 |
344 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA18774846 rs927843333 |
344 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338751323 rs1435077520 |
344 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1363414092 CA338751305 |
345 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338751159 CA338751154 rs774707581 |
347 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746571941 CA647102 |
347 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA647100 rs771533896 |
348 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1046360448 CA18774831 |
349 | S>P | No |
ClinGen Ensembl |
|
|
rs142969512 CA647096 |
350 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM182384 COSM3689223 rs142969512 CA647098 |
350 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756567062 CA647095 |
350 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338751053 rs1244702417 |
351 | C>Y | No |
ClinGen gnomAD |
|
|
rs137852937 CA647092 |
352 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235382146 CA338751001 |
353 | R>C | No |
ClinGen gnomAD |
|
|
CA18774795 rs957840703 |
353 | R>H | No |
ClinGen Ensembl |
|
|
rs766376495 CA647089 |
354 | L>I | No |
ClinGen ExAC |
|
|
CA647087 rs757748374 |
355 | Y>* | No |
ClinGen ExAC |
|
|
rs1422527823 CA338750924 |
356 | V>M | No |
ClinGen TOPMed |
|
|
CA338750859 rs758300845 |
357 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1271709011 CA338750865 |
357 | P>S | No |
ClinGen gnomAD |
|
|
rs765042785 CA647084 |
358 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338750852 rs1317533452 |
358 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1182498 CA338750681 rs1483932815 COSM1182497 |
361 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA18774754 rs1019789439 |
361 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA647080 rs760173262 |
362 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1168070771 CA338750678 |
362 | P>T | No |
ClinGen gnomAD |
|
|
rs1164210359 CA338750610 |
363 | Q>R | No |
ClinGen gnomAD |
|
|
CA647078 rs368174095 |
364 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA647073 rs781564812 |
367 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA18774700 rs981449286 |
371 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA338750392 rs1311055958 |
371 | E>K | No |
ClinGen gnomAD |
|
|
rs1307722851 CA338750321 |
373 | S>T | No |
ClinGen gnomAD |
|
|
CA18774690 rs867081902 |
374 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338750293 rs867081902 |
374 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755188126 CA647072 |
374 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456872299 CA338750248 |
375 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs373944705 CA18774689 |
376 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs906372772 CA18774685 |
376 | K>N | No |
ClinGen Ensembl |
|
|
rs913349768 CA18774682 |
378 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1366460812 CA338750185 |
378 | G>S | No |
ClinGen gnomAD |
|
|
CA338750159 rs1410748373 |
379 | D>N | No |
ClinGen gnomAD |
|
|
CA338749883 rs1341374553 |
380 | P>L | No |
ClinGen gnomAD |
|
|
CA338749868 rs1295053571 |
381 | A>S | No |
ClinGen gnomAD |
|
|
rs1383309801 CA338749771 |
384 | F>S | No |
ClinGen gnomAD |
|
|
rs371743661 CA647040 |
385 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332245880 CA338749754 |
385 | G>R | No |
ClinGen TOPMed |
|
|
rs766004973 CA647038 |
386 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA338749671 rs1298258551 |
387 | F>L | No |
ClinGen gnomAD |
|
|
rs41273175 CA18774420 |
388 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1167339045 CA338749602 |
390 | A>S | No |
ClinGen gnomAD |
|
|
rs1446786758 CA338749585 |
390 | A>V | No |
ClinGen gnomAD |
|
|
rs769035060 CA647034 |
391 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA647035 rs777312198 |
391 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777312198 CA338749575 |
391 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA338749550 rs1270785916 |
392 | I>L | No |
ClinGen gnomAD |
|
|
rs1440938853 CA338749535 |
392 | I>T | No |
ClinGen gnomAD |
|
|
rs1229672796 CA338749506 |
393 | D>E | No |
ClinGen gnomAD |
|
|
CA338749490 rs1252674404 |
394 | A>T | No |
ClinGen gnomAD |
|
|
CA338749453 rs1428882086 |
394 | A>V | No |
ClinGen TOPMed |
|
|
rs200076678 CA647030 CA647031 |
395 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537654831 CA647032 |
395 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1488042378 CA338749117 |
397 | F>L | No |
ClinGen Ensembl |
|
|
CA338749084 rs1326650238 |
398 | A>V | No |
ClinGen gnomAD |
|
|
CA647004 rs749555399 |
399 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963927418 CA18773768 |
400 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 401 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258740562 CA338749042 |
401 | K>Q | No |
ClinGen TOPMed |
|
|
CA338749028 rs1434975183 |
401 | K>R | No |
ClinGen gnomAD |
|
|
CA338748974 rs1367743830 |
403 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA647002 rs200250131 |
405 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs779902740 CA647001 |
406 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757970883 CA647000 |
406 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs779902740 CA18773746 |
406 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145334067 CA18773732 |
407 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145334067 COSM176515 CA18773733 |
407 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
COSM1601435 CA646998 rs568701898 COSM1601436 |
407 | A>V | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA646996 rs753268932 |
408 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767732851 CA646995 |
408 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646994 rs377173835 |
409 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538421159 CA646993 |
410 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552705007 CA646991 |
411 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA646989 rs769943654 |
412 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA338748864 rs769943654 |
412 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs746859503 CA646985 |
414 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs140255852 CA646984 |
415 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338747899 rs1332281936 |
417 | A>D | No |
ClinGen gnomAD |
|
|
rs1025299467 CA338747906 |
417 | A>P | No |
ClinGen gnomAD |
|
|
rs1025299467 CA18773656 |
417 | A>S | No |
ClinGen gnomAD |
|
|
CA338747902 rs1332281936 |
417 | A>V | No |
ClinGen gnomAD |
|
|
rs756820383 CA646979 |
419 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338747878 rs1569723224 |
419 | G>S | No |
ClinGen Ensembl |
|
|
CA338747860 rs1569723187 |
420 | K>N | No |
ClinGen Ensembl |
|
|
rs1386914143 CA338747846 |
421 | C>Y | No |
ClinGen gnomAD |
|
|
rs1182042295 CA338747842 |
422 | D>N | No |
ClinGen gnomAD |
|
|
CA646977 rs768115377 |
424 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766731800 CA646974 |
425 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751983201 CA646975 |
425 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1275931161 CA338747797 |
426 | G>S | No |
ClinGen gnomAD |
|
|
rs1340414477 CA338747744 |
429 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs544211563 CA338747702 |
431 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765203475 CA646971 |
431 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646972 rs544211563 |
431 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs937658504 CA18773567 |
432 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA646968 rs761669593 |
434 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761669593 CA646969 |
434 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330438587 CA338747599 |
438 | D>E | No |
ClinGen TOPMed |
|
|
rs1371290063 CA338747613 |
438 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1371290063 CA338747614 |
438 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA18773551 rs906034380 |
439 | P>S | No |
ClinGen Ensembl |
|
|
CA646966 rs760693906 |
440 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 440 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18773541 rs981783095 |
443 | I>L | No |
ClinGen TOPMed |
|
|
rs1557610700 CA338747520 |
444 | M>V | No |
ClinGen Ensembl |
|
|
rs149892137 CA646963 |
446 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1256487315 CA338747145 |
448 | I>T | No |
ClinGen gnomAD |
|
|
CA18773037 rs868794060 |
449 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 450 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA646932 rs750866718 |
452 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779150303 CA646931 |
453 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA338747020 rs1251460684 |
455 | V>G | No |
ClinGen gnomAD |
|
|
CA338747004 rs757444298 |
456 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18773011 rs866710153 |
456 | Y>C | No |
ClinGen gnomAD |
|
|
rs866710153 CA338747012 |
456 | Y>F | No |
ClinGen gnomAD |
|
|
rs199828375 CA646929 |
457 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756299719 CA338746953 |
459 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756299719 CA338746954 |
459 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338746956 rs1203659859 |
459 | P>S | No |
ClinGen gnomAD |
|
|
rs2230708 CA338746925 |
460 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759243042 CA646924 |
460 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646920 rs772894974 |
463 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1181772867 CA338746893 |
463 | Y>N | No |
ClinGen TOPMed |
|
|
rs747718272 CA646918 |
464 | K>Q | No |
ClinGen ExAC |
|
|
CA646916 rs372612033 |
466 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1569718952 CA338746727 |
470 | V>G | No |
ClinGen Ensembl |
|
|
CA338746706 rs1171077841 |
471 | D>V | No |
ClinGen gnomAD |
|
|
rs896966280 CA18772917 |
472 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756248483 CA646909 |
473 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284538413 CA338746528 |
476 | Y>C | No |
ClinGen TOPMed |
|
|
rs767495737 CA646907 |
477 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646905 rs373826244 |
479 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA646906 rs373826244 |
479 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373826244 CA18772900 |
479 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1205847030 CA338746445 |
480 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 481 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338746420 rs1393040897 |
481 | A>T | No |
ClinGen TOPMed |
|
|
CA338746375 rs1295169523 |
482 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18772882 rs919538744 |
484 | S>F | No |
ClinGen TOPMed |
|
|
CA338746203 rs972450233 |
486 | D>G | No |
ClinGen TOPMed |
|
|
rs972450233 CA18772876 |
486 | D>V | No |
ClinGen TOPMed |
|
|
rs150916561 CA646877 |
489 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA646873 rs199624169 |
490 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA646874 rs199624169 |
490 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs563859389 CA646872 |
491 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321133634 CA338745816 |
491 | Q>R | No |
ClinGen TOPMed |
|
|
CA646871 rs768771214 |
493 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338745762 rs1278274547 |
494 | T>I | No |
ClinGen gnomAD |
|
|
CA646870 rs747128730 |
495 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369624696 CA646868 |
499 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs959859902 CA18772217 |
502 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA646866 rs778642174 |
504 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1376796026 CA338745555 |
505 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs371499176 CA646864 |
508 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs763710453 CA646863 |
509 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646862 rs760227262 |
510 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287993003 CA338745399 |
511 | T>A | No |
ClinGen TOPMed |
|
|
rs1444732434 CA338745370 |
513 | S>A | No |
ClinGen gnomAD |
|
|
CA646861 rs545207632 |
513 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338745349 rs1346345763 |
514 | I>L | No |
ClinGen gnomAD |
|
|
CA646859 rs773884295 |
516 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646858 rs773884295 |
516 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646856 rs762329320 |
517 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1253842303 CA338745206 |
519 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338745200 rs747269131 |
520 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA646854 rs768698409 |
520 | F>L | No |
ClinGen ExAC |
|
|
CA646852 rs779950402 |
520 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA646853 rs747269131 |
520 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs200711248 CA646850 |
521 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18772147 rs200711248 |
521 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646851 rs200711248 |
521 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646848 rs1553152841 |
523 | A>G | No |
ClinGen Ensembl |
|
| rs754334877 | 523 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754334877 | 523 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18772138 rs888782800 |
523 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199789740 CA18772128 |
524 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199789740 CA646846 |
524 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757032042 CA646845 |
524 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777628556 CA646842 |
525 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA646843 rs749103970 |
525 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454852714 CA338744773 |
527 | G>E | No |
ClinGen TOPMed |
|
|
CA646819 rs61757683 |
528 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751050154 CA646817 |
530 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766004992 CA646816 |
532 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1164985565 CA338744735 |
533 | G>E | No |
ClinGen gnomAD |
|
|
CA338744732 rs1460599354 |
534 | G>S | No |
ClinGen gnomAD |
|
|
CA646815 rs757656676 |
536 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA646814 rs754401096 |
536 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177188184 CA338744712 |
537 | Y>C | No |
ClinGen gnomAD |
|
|
rs764336805 CA646813 |
537 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA18806948 rs112222395 |
538 | I>V | No |
ClinGen Ensembl |
|
|
CA646811 rs775674142 |
539 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA338744698 rs775674142 |
539 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs576534785 CA646810 |
540 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs759758353 CA646809 |
540 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759758353 CA338744694 |
540 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646808 rs774355898 |
541 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA646805 rs149468487 |
543 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA646800 rs746685696 |
546 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368786991 CA646799 |
547 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA646797 rs138899009 |
548 | K>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA338744635 rs1457287378 |
550 | T>A | No |
ClinGen gnomAD |
|
|
rs1158971542 CA338744626 |
551 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754279134 CA646795 |
552 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA338744607 rs1557607315 |
554 | L>R | No |
ClinGen Ensembl |
|
|
rs778404343 CA646794 |
555 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA646793 rs536031585 |
557 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338744568 rs531113108 |
559 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA646790 rs776207072 |
560 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773369554 CA646789 |
560 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA338744564 rs528211463 |
561 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338744562 rs1301971282 |
561 | Y>S | No |
ClinGen gnomAD |
|
|
rs1233251711 CA338744553 |
562 | M>T | No |
ClinGen gnomAD |
|
|
CA338744548 rs1569707780 |
563 | Q>* | No |
ClinGen Ensembl |
|
|
CA338744541 rs1470034494 |
563 | Q>H | No |
ClinGen gnomAD |
|
|
CA338744535 rs1422137698 |
564 | Q>C | No |
ClinGen TOPMed |
1 associated diseases with P30038
[MIM: 239510]: Hyperprolinemia 2 (HYRPRO2)
An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay. {ECO:0000269|PubMed:22516612, ECO:0000269|PubMed:9700195}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay. {ECO:0000269|PubMed:22516612, ECO:0000269|PubMed:9700195}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 1.2.1.88 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1-pyrroline-5-carboxylate dehydrogenase activity | Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). |
| aldehyde dehydrogenase (NAD+) activity | Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+. |
| electron transfer activity | Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient. |
| identical protein binding | Binding to an identical protein or proteins. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| 4-hydroxyproline catabolic process | The chemical reactions and pathways resulting in the breakdown of 4-hydroxyproline, C5H9NO3, a derivative of the amino acid proline. |
| proline catabolic process | The chemical reactions and pathways resulting in the breakdown of proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. |
| proline catabolic process to glutamate | The chemical reactions and pathways resulting in the breakdown of proline into other compounds, including glutamate. |
| proline metabolic process | The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A7YWE4 | ALDH4A1 | Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial | Bos taurus (Bovine) | PR |
| Q8CHT0 | Aldh4a1 | Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial | Mus musculus (Mouse) | PR |
| Q7SY23 | aldh4a1 | Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLPAPALRR | ALLSRPWTGA | GLRWKHTSSL | KVANEPVLAF | TQGSPERDAL | QKALKDLKGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MEAIPCVVGD | EEVWTSDVQY | QVSPFNHGHK | VAKFCYADKS | LLNKAIEAAL | AARKEWDLKP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IADRAQIFLK | AADMLSGPRR | AEILAKTMVG | QGKTVIQAEI | DAAAELIDFF | RFNAKYAVEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EGQQPISVPP | STNSTVYRGL | EGFVAAISPF | NFTAIGGNLA | GAPALMGNVV | LWKPSDTAML |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASYAVYRILR | EAGLPPNIIQ | FVPADGPLFG | DTVTSSEHLC | GINFTGSVPT | FKHLWKQVAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NLDRFHTFPR | LAGECGGKNF | HFVHRSADVE | SVVSGTLRSA | FEYGGQKCSA | CSRLYVPHSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WPQIKGRLLE | EHSRIKVGDP | AEDFGTFFSA | VIDAKSFARI | KKWLEHARSS | PSLTILAGGK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CDDSVGYFVE | PCIVESKDPQ | EPIMKEEIFG | PVLSVYVYPD | DKYKETLQLV | DSTTSYGLTG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AVFSQDKDVV | QEATKVLRNA | AGNFYINDKS | TGSIVGQQPF | GGARASGTND | KPGGPHYILR |
| 550 | 560 | ||||
| WTSPQVIKET | HKPLGDWSYA | YMQ |