P78562
PR
Gene name |
PHEX (PEX) |
Protein name |
Phosphate-regulating neutral endopeptidase PHEX |
Names |
Metalloendopeptidase homolog PEX, Vitamin D-resistant hypophosphatemic rickets protein, X-linked hypophosphatemia protein, HYP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5251 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P78562
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P78562-F1 | Predicted | AlphaFoldDB |
726 variants for P78562
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1602240890 RCV000990502 |
4 | E>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147859619 RCV002057060 RCV000366699 CA10367951 RCV000435979 |
4 | E>Q | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000990503 rs1602240926 |
7 | S>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000438600 COSM462259 rs770573978 CA16608388 RCV000505445 |
20 | R>* | cervix Variant assessed as Somatic; impact. Familial X-linked hypophosphatemic vitamin D refractory rickets [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1556010757 RCV000505430 |
27 | V>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602241023 RCV000990504 |
34 | G>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602244774 RCV001029917 |
47 | L>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202074612 CA412564842 RCV000505418 |
48 | Q>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA412565973 RCV001029876 rs1602244810 |
59 | C>S | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412566013 rs770630990 RCV000505463 |
61 | E>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs145393882 RCV003133256 CA10367985 RCV000433201 RCV001063987 |
62 | A>V | Variant assessed as Somatic; 0.0 impact. Familial X-linked hypophosphatemic vitamin D refractory rickets [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000990505 rs1602244836 |
63 | A>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219349 rs1927568587 RCV001271108 |
70 | V>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035982 rs1556014263 RCV000505416 CA412567578 |
77 | C>F | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556014263 VAR_006738 RCV001205422 |
77 | C>S | XLHR [UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_010616 | 80 | F>S | XLHR; sporadic [UniProt] | Yes | UniProt |
| VAR_010617 | 85 | C>F | XLHR; sporadic [UniProt] | Yes | UniProt |
|
VAR_010618 CA412567630 RCV000505475 rs1556014287 |
85 | C>R | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA412567632 RCV001869364 rs137853269 RCV000990506 |
85 | C>S | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_006739 CA255559 RCV000011564 RCV001851795 rs137853269 |
85 | C>Y | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA260508 RCV001211408 RCV000030356 rs193922458 |
106 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602273769 RCV002249607 RCV000999351 |
123 | I>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs151306376 RCV000497462 CA412571122 RCV001196900 |
133 | Q>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_006740 | 138 | L>P | XLHR [UniProt] | Yes | UniProt |
|
rs1556020460 RCV000505492 CA412571162 |
139 | Y>N | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990508 RCV001858724 CA412571179 rs1602273900 |
141 | S>F | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_010619 | 141 | S>P | XLHR; sporadic [UniProt] | Yes | UniProt |
|
rs1556020474 RCV000505398 |
142 | C>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066270 VAR_010620 rs1064797048 |
142 | C>F | XLHR [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA10368040 RCV000911006 rs749081778 RCV002502737 |
147 | A>V | Variant assessed as Somatic; 0.0 impact. Familial X-linked hypophosphatemic vitamin D refractory rickets [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA412571292 RCV000505444 rs1556020752 |
156 | L>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_010621 | 160 | L>R | XLHR [UniProt] | Yes | UniProt |
|
CA10368051 VAR_006741 rs751230094 |
166 | R>C | Variant assessed as Somatic; 0.0 impact. XLHR [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA412571357 rs1556020770 RCV000625611 RCV001218566 |
167 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602274883 RCV000990510 RCV001389692 CA412571440 |
180 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505432 rs1556020798 |
183 | R>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602274893 RCV000990511 |
187 | L>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602274929 RCV000990512 |
195 | R>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602274950 RCV000990513 |
198 | Y>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002541818 rs1929214770 RCV001293726 |
205 | R>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771208171 RCV000505478 CA412571620 |
207 | Y>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001166518 rs370610267 CA10368070 RCV000975449 |
211 | D>N | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1929218157 RCV001254910 |
216 | N>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001166519 rs774907553 CA10368072 |
218 | H>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA412572024 rs1556023495 RCV000505459 |
227 | L>I | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000486799 RCV000505406 rs1064793956 |
228 | S>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10653877 rs1057515843 RCV000355092 |
234 | D>N | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505501 rs1556023503 |
235 | Y>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505412 CA412572084 rs1556023505 |
236 | L>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_010622 | 237 | D>G | XLHR; sporadic [UniProt] | Yes | UniProt |
|
RCV001857790 rs267606945 VAR_006742 CA353714 RCV000011565 |
252 | F>S | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_006743 rs267606946 CA353715 RCV001857787 RCV000011565 |
253 | M>I | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs137853268 CA255557 RCV000011563 |
277 | L>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412572474 rs1556024541 RCV000505485 |
278 | E>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602290398 CA412572564 RCV000990515 |
289 | E>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs866429868 RCV000412793 CA16043251 RCV001843518 RCV000505415 |
291 | R>* | Variant assessed as Somatic; 0.0 impact. Familial X-linked hypophosphatemic vitamin D refractory rickets Hypophosphatemic rickets [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000030358 rs193922460 |
296 | M>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_010623 | 317 | Y>F | XLHR [UniProt] | Yes | UniProt |
|
RCV000505409 RCV001307375 rs1556025968 |
320 | K>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497756 CA412572795 RCV000990517 rs1556025976 |
321 | V>F | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000480570 RCV000990518 RCV001843307 rs1556025994 |
329 | H>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets Hypophosphatemic rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
CA412572930 RCV000505488 rs1556026027 |
341 | V>D | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_010624 | 341 | V>del | XLHR; sporadic [UniProt] | Yes | UniProt |
|
RCV002523830 COSM176415 CA10368175 RCV000319071 rs376461141 |
342 | R>H | large_intestine Familial X-linked hypophosphatemic vitamin D refractory rickets [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000990519 CA412572957 RCV000521636 rs1556026033 |
346 | Y>C | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs936722686 CA412573090 RCV001029877 |
363 | A>V | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505455 rs1556029499 RCV001381240 CA412573124 |
368 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412573120 rs1602303865 RCV000990520 |
368 | W>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505443 rs1556029516 |
379 | S>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
CA645509381 RCV000505503 rs1556029519 |
379 | S>RW | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001383914 RCV000990521 CA412573248 rs1602304005 |
386 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000486397 rs1064793847 RCV001843306 |
401 | P>missing | Hypophosphatemic rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000265639 CA10368202 RCV001167037 rs145778165 |
401 | P>L | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000990522 CA412573365 rs1602307078 RCV001232657 |
403 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990523 rs1602307094 |
405 | K>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060115 rs1556030465 RCV000505400 CA412573387 |
406 | C>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602307107 CA412573389 RCV000990524 |
406 | C>Y | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505450 rs1556030487 |
424 | D>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556030502 RCV000505437 CA412573786 |
433 | E>* | Variant assessed as Somatic; impact. Familial X-linked hypophosphatemic vitamin D refractory rickets [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1932102521 RCV002225128 RCV001219871 |
438 | L>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602324484 RCV000990525 |
442 | V>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_010625 | 444 | W>WN | XLHR [UniProt] | Yes | UniProt |
|
rs202164519 CA327525253 RCV002056895 RCV000505504 |
453 | E>D | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000505473 rs886041359 RCV000368437 CA10603714 |
456 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000488975 RCV000505465 rs1085308012 CA412574676 |
456 | W>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602324630 RCV000990526 CA412574796 RCV002549747 |
468 | K>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10368231 rs754449807 RCV001377690 RCV000505436 |
468 | K>N | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA412573942 RCV001221993 rs375593493 RCV000505408 |
469 | A>E | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000990527 rs1602354302 |
476 | V>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602363343 RCV000990528 |
499 | E>DQ | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505458 CA412574864 rs1556070890 |
508 | Q>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs915608304 CA412574878 RCV001030004 |
510 | R>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505394 CA10603445 RCV000333172 rs886041361 |
515 | Q>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556071086 RCV000505497 |
520 | W>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505433 rs1556071123 |
523 | K>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505422 rs1556071138 |
525 | V>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922455 RCV000030353 RCV001381407 CA260502 |
530 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505403 VAR_010626 CA412575027 rs1556091855 |
530 | W>C | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000505461 rs886041363 CA10603575 RCV000260839 VAR_006744 RCV001843504 |
534 | P>L | Variant assessed as Somatic; impact. Familial X-linked hypophosphatemic vitamin D refractory rickets Hypophosphatemic rickets XLHR [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002250611 RCV000280838 CA10603715 rs886041224 |
549 | R>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602395717 RCV002549748 CA412575590 RCV000990530 |
549 | R>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556128043 RCV000505425 |
550 | F>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10368318 rs773244112 RCV000379705 |
552 | A>V | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA255560 RCV001202583 RCV000011566 VAR_010627 rs137853270 |
555 | L>P | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs137853271 RCV000414471 CA255561 RCV000011569 |
567 | R>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs760870713 VAR_010628 RCV000413078 CA16043260 |
567 | R>P | XLHR; sporadic [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000505477 CA412575727 rs1556135242 RCV002524419 |
569 | L>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064795106 RCV000990531 CA412575744 |
572 | G>C | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000505419 rs1556135308 CA412575749 VAR_010629 RCV002524420 |
573 | A>D | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR; sporadic [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1556135308 RCV000990532 CA412575751 |
573 | A>V | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412575782 CA10576256 RCV000396672 VAR_006745 RCV000211521 RCV000578203 rs875989883 RCV000505502 |
579 | G>R | Vitamin D-dependent rickets, type 2 Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057517980 RCV000412906 VAR_006746 CA16043217 |
579 | G>V | XLHR [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000678304 CA16608818 RCV000444535 rs1057521800 |
580 | H>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412575792 rs1602402229 RCV000990533 |
581 | E>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990534 RCV001858725 rs1602402258 CA412575814 |
584 | H>Y | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556135477 CA412575823 RCV000505405 |
585 | G>E | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340748 CA412575822 RCV000505487 rs1556135467 |
585 | G>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772130004 RCV000505440 CA412575846 |
588 | N>S | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000505451 rs1556138407 RCV002524418 CA645509391 |
593 | Y>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
CA10603458 RCV000505494 rs886041364 RCV000316029 |
595 | K>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990536 rs1602405176 |
604 | S>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990537 rs1602405239 CA412573656 |
609 | E>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505491 rs1556138590 |
610 | K>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000321756 RCV000990538 rs886041367 |
620 | N>D* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602405293 CA412573835 RCV000990539 |
621 | Q>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_010630 | 621 | Q>R | XLHR [UniProt] | Yes | UniProt |
|
COSM3939921 RCV001049547 rs1400504292 RCV000761325 CA412573869 |
625 | Y>* | oesophagus Familial X-linked hypophosphatemic vitamin D refractory rickets [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV002476599 rs1036644594 CA327531987 RCV001347709 |
626 | Y>H | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001857230 RCV000505402 rs1556138742 |
630 | A>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556148392 RCV000505426 |
638 | R>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556148532 CA412574202 RCV000505472 RCV001207802 |
646 | D>H | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000030354 CA260504 RCV001852599 rs193922456 |
650 | L>P | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001092573 CA412574236 VAR_010631 rs748792378 RCV000505429 |
651 | R>P | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1602411514 RCV000990542 |
652 | E>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505417 RCV001857231 CA412574293 rs1556151071 |
657 | Y>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000285863 CA10603718 RCV000505395 RCV001843505 rs886041369 |
660 | W>* | Familial X-linked hypophosphatemic vitamin D refractory rickets Hypophosphatemic rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556151137 RCV000505391 CA645509397 |
664 | R>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000030355 CA260506 rs193922457 RCV001220680 |
667 | G>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602412679 RCV001342525 RCV000990543 |
669 | E>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
CA412574443 VAR_010633 RCV001063543 RCV000623585 rs1556151526 RCV002250671 COSM131417 |
680 | N>K | liver Familial X-linked hypophosphatemic vitamin D refractory rickets Inborn genetic diseases XLHR; sporadic [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
| VAR_010632 | 680 | N>del | XLHR [UniProt] | Yes | UniProt |
|
CA412574455 RCV001070383 RCV000505447 rs1556151545 |
682 | Q>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002248502 rs886041372 RCV000291546 CA10603468 |
688 | Y>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
CA10368426 rs200733697 RCV001168749 RCV002557455 RCV002558673 |
690 | H>N | Familial X-linked hypophosphatemic vitamin D refractory rickets Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001858726 rs1556200989 RCV000990544 CA412575178 |
693 | C>S | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002248710 RCV000478394 rs1064796845 CA16621340 |
693 | C>W | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556200989 CA412575179 VAR_010634 RCV000505399 RCV001064981 |
693 | C>Y | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR; sporadic [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1556201034 RCV000505505 |
698 | P>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10603719 RCV000315034 RCV000505471 rs886041226 |
702 | R>* | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602439597 RCV001385223 RCV000990545 |
709 | A>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990546 CA412575301 rs1602439611 |
711 | S>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412575316 rs1569442206 RCV000761326 |
714 | Q>* | Variant assessed as Somatic; impact. Familial X-linked hypophosphatemic vitamin D refractory rickets [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_010635 | 720 | A>T | XLHR [UniProt] | Yes | UniProt |
|
rs1057518896 CA16043586 RCV000414906 |
724 | F>* | Hypophosphatemic rickets [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs886041631 RCV000307183 RCV000505421 |
731 | F>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_010636 | 731 | F>Y | XLHR [UniProt] | Yes | UniProt |
|
RCV000990548 CA412575462 RCV001205648 rs1057517981 |
733 | C>F | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307376 RCV000505438 VAR_010637 CA412575461 rs1057517981 |
733 | C>S | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR; sporadic [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001168750 rs371825581 RCV002557456 CA10368468 |
738 | T>M | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1556206093 RCV000505441 |
740 | N>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990549 rs1602442819 CA412575548 |
746 | C>R | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_010638 | 746 | C>W | XLHR; sporadic [UniProt] | Yes | UniProt |
|
RCV000505476 rs1556206335 |
747 | R>missing | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505449 RCV000351204 CA10603470 RCV002221523 rs886041227 |
747 | R>* | Familial X-linked hypophosphatemic vitamin D refractory rickets Autosomal dominant hypophosphatemic rickets [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001067506 RCV001210936 CA412575565 RCV000505453 rs1556206403 VAR_010639 |
749 | W>R | Familial X-linked hypophosphatemic vitamin D refractory rickets XLHR [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP ClinGen Ensembl |
|
RCV000990550 rs1602442871 CA412575577 |
750 | W>W | Familial X-linked hypophosphatemic vitamin D refractory rickets [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1926865530 RCV001212779 |
1 | M>I | No |
ClinVar dbSNP |
|
|
CA412563729 rs1474113205 |
5 | T>P | No |
ClinGen TOPMed |
|
|
rs1569364701 RCV000712532 |
6 | G>missing | No |
ClinVar dbSNP |
|
|
rs1926867009 RCV001240990 |
7 | S>missing | No |
ClinVar dbSNP |
|
|
rs1222346086 CA412563794 |
9 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
RCV001239145 rs1926868266 |
10 | E>missing | No |
ClinVar dbSNP |
|
|
rs1464335981 CA412563819 |
10 | E>* | No |
ClinGen gnomAD |
|
|
rs1926867732 RCV001206146 |
11 | T>missing | No |
ClinVar dbSNP |
|
|
CA10367953 rs773033853 |
15 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770920860 CA10367954 |
16 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001240167 rs1926870020 |
17 | R>* | No |
ClinVar dbSNP |
|
|
rs1037250538 CA327517335 |
18 | G>D | No |
ClinGen Ensembl |
|
|
rs935444170 CA327517336 |
19 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10367955 rs770573978 |
20 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA412564059 rs1164800764 |
20 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10367956 rs773927462 RCV001303324 |
22 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001040903 rs1926871899 |
23 | L>missing | No |
ClinVar dbSNP |
|
|
RCV001203553 rs1926871732 |
23 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000343368 rs886043584 |
23 | L>missing | No |
ClinVar dbSNP |
|
|
rs759110019 CA10367957 |
25 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767546324 CA10367958 |
26 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1926873715 RCV001210205 |
28 | G>missing | No |
ClinVar dbSNP |
|
|
CA10367960 COSM273104 rs760556268 |
28 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 31 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001054675 rs1926874291 |
35 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 35 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539005958 CA327517338 |
35 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1328468097 CA412564347 |
37 | L>I | No |
ClinGen gnomAD |
|
|
rs1328468097 CA412564349 |
37 | L>V | No |
ClinGen gnomAD |
|
|
rs1206720296 CA412564370 |
38 | F>S | No |
ClinGen gnomAD |
|
|
RCV001223336 rs1927126429 |
42 | Q>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 42 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10367980 rs775529233 |
44 | L>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001217999 rs886039661 RCV000254763 CA10588755 |
45 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1183651155 CA412564826 |
46 | S>R | No |
ClinGen gnomAD |
|
|
rs202074612 CA327517731 |
48 | Q>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA327517732 rs966703162 |
48 | Q>H | No |
ClinGen Ensembl |
|
|
RCV000482163 rs1064793526 |
51 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1064794303 RCV000484045 CA16621305 |
51 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1064794303 CA412565681 |
51 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000336630 rs886041626 CA10603623 |
52 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA327517733 rs756452995 |
60 | I>S | No |
ClinGen TOPMed |
|
|
CA10367984 rs770630990 |
61 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1248923826 CA412567501 |
65 | A>V | No |
ClinGen gnomAD |
|
|
CA10367998 rs779373231 |
66 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001239984 rs1927568383 |
68 | S>missing | No |
ClinVar dbSNP |
|
|
RCV001215550 rs1927568868 |
68 | S>missing | No |
ClinVar dbSNP |
|
|
CA412567526 rs1247280838 |
69 | K>E | No |
ClinGen TOPMed |
|
|
rs754929336 CA10367999 |
70 | V>A | No |
ClinGen ExAC |
|
|
CA327518449 rs754929336 |
70 | V>G | No |
ClinGen ExAC |
|
|
RCV000256035 rs886039580 |
74 | V>missing | No |
ClinVar dbSNP |
|
|
CA10368001 rs201394441 |
76 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1001397873 CA327518450 |
76 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1556014263 RCV001222118 |
77 | C>Y | No |
ClinVar dbSNP |
|
|
CA10368002 rs761638747 |
79 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1927572565 RCV001238520 |
81 | F>L | No |
ClinVar dbSNP |
|
|
rs769541316 CA10368004 |
82 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769541316 CA412567615 |
82 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769541316 CA10368003 |
82 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412567614 rs1365010493 |
82 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
RCV000498627 CA412567626 rs1556014284 |
84 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs767642869 CA10368006 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752781848 CA10368007 |
86 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA412567640 rs752781848 |
86 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA412567638 rs1569369642 |
86 | D>Y | No |
ClinGen Ensembl |
|
|
CA412567652 COSM612283 rs1569369653 RCV000712533 |
88 | W>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1296511720 CA412567659 |
89 | I>V | No |
ClinGen gnomAD |
|
|
rs1485018711 CA412567668 |
90 | S>N | No |
ClinGen TOPMed |
|
|
rs375707069 CA10368008 |
91 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1927577124 RCV001243781 |
92 | N>missing | No |
ClinVar dbSNP |
|
|
rs764744535 CA10368009 |
94 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000992532 rs1602251992 |
96 | E>missing | No |
ClinVar dbSNP |
|
|
COSM288768 rs149168023 CA10368010 |
96 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs996361707 CA327518451 |
97 | D>G | No |
ClinGen Ensembl |
|
|
CA412567723 rs1207505931 |
98 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1569369682 CA412567734 |
99 | P>L | No |
ClinGen Ensembl |
|
|
rs1292664422 CA412567730 |
99 | P>S | No |
ClinGen gnomAD |
|
|
rs765647670 CA10368012 |
100 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10368013 rs750103659 |
101 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
RCV001039987 rs1927580756 |
102 | G>R | No |
ClinVar dbSNP |
|
|
RCV001244517 rs1927580964 |
103 | V>missing | No |
ClinVar dbSNP |
|
|
rs758053428 CA10368014 |
103 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA412567767 RCV000490200 rs1085307642 |
104 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412567772 rs1189416276 |
105 | P>L | No |
ClinGen gnomAD |
|
|
rs905332203 CA327518452 |
109 | H>Y | No |
ClinGen TOPMed |
|
|
RCV002248708 rs1064795949 RCV000480501 |
111 | V>missing | No |
ClinVar dbSNP |
|
|
rs772238348 CA10368024 |
118 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10368025 rs775756294 |
123 | I>V | No |
ClinGen ExAC |
|
|
rs933332537 CA327520771 |
125 | R>T | No |
ClinGen Ensembl |
|
|
rs370698419 CA10368027 RCV000891869 |
127 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10368026 rs375376231 |
127 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936060620 CA327520772 |
129 | T>S | No |
ClinGen TOPMed |
|
|
CA327520773 COSM1119243 rs886560421 |
130 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1297047728 CA412571116 |
132 | I>L | No |
ClinGen TOPMed |
|
|
rs151306376 CA10368030 |
133 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1929155246 RCV001223304 |
135 | A>D | No |
ClinVar dbSNP |
|
|
CA327520774 rs1037767064 |
135 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1929155885 RCV001211397 |
139 | Y>C | No |
ClinVar dbSNP |
|
|
RCV000481726 rs140678356 CA16621308 |
140 | S>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs140678356 CA10368031 |
140 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA16043220 rs1057517787 RCV000414040 |
142 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064797048 CA16621309 RCV000481349 |
142 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412571188 rs1386305597 |
143 | M>L | No |
ClinGen gnomAD |
|
|
rs749081778 CA412571232 |
147 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs775603606 CA10368042 |
148 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA412571245 rs1376835573 |
149 | E>G | No |
ClinGen gnomAD |
|
|
rs886042025 RCV000281027 CA10603628 |
150 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1929202609 RCV001046084 |
153 | A>missing | No |
ClinVar dbSNP |
|
|
rs1602274746 RCV000992534 |
161 | R>missing | No |
ClinVar dbSNP |
|
|
RCV001342790 rs138497409 |
161 | R>P | No |
ClinVar dbSNP |
|
|
CA10368048 COSM388106 rs138497409 |
161 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs765714025 CA10368047 |
161 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766719010 CA10368050 |
164 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751230094 CA412571350 |
166 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs150297950 CA10368052 |
166 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000413519 rs1057517789 CA16043223 |
167 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064796435 RCV000482803 CA16621310 |
167 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057517790 CA16043306 RCV000414149 |
168 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs187824835 RCV000486772 CA16621311 |
169 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000425649 RCV001510910 rs187824835 CA10368054 |
169 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs886041680 RCV000346647 |
170 | L>missing | No |
ClinVar dbSNP |
|
|
CA412571370 rs755595286 |
170 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755595286 CA10368055 COSM1557285 |
170 | L>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1203193139 CA412571387 |
172 | S>F | No |
ClinGen gnomAD |
|
|
CA412571390 rs1312421448 |
173 | N>D | No |
ClinGen TOPMed |
|
|
rs777607846 CA412571392 |
173 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs777607846 CA10368056 |
173 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1177677819 CA412571411 |
176 | P>H | No |
ClinGen gnomAD |
|
|
rs1413285419 CA412571428 |
179 | V>I | No |
ClinGen TOPMed |
|
|
RCV000256152 rs886039581 |
180 | W>missing | No |
ClinVar dbSNP |
|
|
CA10368059 rs778710788 |
181 | S>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001247625 rs1929210900 |
185 | F>missing | No |
ClinVar dbSNP |
|
|
rs1057521143 RCV000418710 CA16608814 |
189 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs747237564 CA10368060 |
189 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1450543915 CA412571508 |
190 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769066725 CA10368061 |
193 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs748279755 CA10368063 |
195 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 196 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394418645 CA412571545 |
196 | G>V | No |
ClinGen TOPMed |
|
|
CA412571569 rs1169773630 |
199 | S>R | No |
ClinGen TOPMed |
|
|
RCV000613805 rs1293482406 CA412571571 |
200 | N>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA412571603 RCV000489507 rs1085307950 |
204 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769878509 CA10368064 |
205 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412571607 rs1388893387 |
205 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV000295872 CA10603631 rs886041694 |
206 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs773617103 CA10368065 |
206 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA16608395 RCV000442393 rs886041694 |
206 | L>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001223335 rs1929215753 |
207 | Y>missing | No |
ClinVar dbSNP |
|
|
rs763461759 CA10368066 |
207 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774768015 CA10368068 |
209 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10368069 rs774768015 |
209 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001234648 rs1929219058 |
217 | E>* | No |
ClinVar dbSNP |
|
|
rs1602275043 CA412571690 |
218 | H>Y | No |
ClinGen Ensembl |
|
|
CA16621313 rs948246694 RCV000486842 |
224 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs948246694 CA327521772 |
224 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10368085 rs749327791 |
225 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412572015 rs1569386607 |
225 | A>V | No |
ClinGen Ensembl |
|
|
rs1131691812 RCV000493345 |
228 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 230 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10368089 rs376291775 |
231 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1439009942 CA412572057 |
233 | E>K | No |
ClinGen TOPMed |
|
|
CA10368090 rs775148284 |
237 | D>V | No |
ClinGen ExAC |
|
|
CA412572094 rs1273625637 |
238 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423583181 CA412572124 |
241 | E>G | No |
ClinGen gnomAD |
|
|
rs1929832980 RCV001203225 |
242 | A>missing | No |
ClinVar dbSNP |
|
|
CA327521773 rs144007621 |
242 | A>G | No |
ClinGen ESP TOPMed |
|
|
CA10368091 rs760319054 |
242 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10368092 rs763517570 |
244 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779431331 CA10368105 |
247 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA412572277 rs867137730 |
248 | A>G | No |
ClinGen gnomAD |
|
|
COSM1467241 rs1286071851 CA412572273 |
248 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA327522051 rs867137730 |
248 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001066122 rs1930018183 |
249 | L>* | No |
ClinVar dbSNP |
|
| TCGA novel | 249 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001226716 rs1322662992 |
250 | Y>* | No |
ClinVar dbSNP |
|
|
CA412572285 rs1208955181 |
250 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA412572293 rs1235348543 |
251 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA412572309 rs1486377283 |
253 | M>L | No |
ClinGen gnomAD |
|
|
rs1187972400 CA412572311 |
253 | M>T | No |
ClinGen gnomAD |
|
|
RCV000480929 rs1064796391 |
254 | V>missing | No |
ClinVar dbSNP |
|
|
rs1930020278 RCV001223791 |
256 | T>P | No |
ClinVar dbSNP |
|
|
CA10368106 rs746328622 |
256 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1930020467 RCV001068824 |
257 | A>missing | No |
ClinVar dbSNP |
|
|
rs772441926 CA10368107 |
257 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1414159605 CA412572339 |
258 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV001008042 rs886041569 |
259 | L>* | No |
ClinVar dbSNP |
|
|
rs886041569 RCV000275480 |
260 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 260 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327522053 rs113219043 |
261 | G>E | No |
ClinGen Ensembl |
|
|
rs1422630224 CA412572382 |
264 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 266 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10368108 rs775766235 |
266 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1930023604 RCV001225076 |
272 | K>* | No |
ClinVar dbSNP |
|
|
CA10368110 rs768413746 |
274 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10368109 rs747331129 |
274 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1407900498 CA412572454 |
275 | L>F | No |
ClinGen gnomAD |
|
|
RCV000992535 rs776124957 CA10368111 |
276 | R>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1476187594 CA412572484 |
279 | I>T | No |
ClinGen TOPMed |
|
|
RCV000255244 rs886039582 |
283 | E>* | No |
ClinVar dbSNP |
|
|
rs1201137950 CA412572528 |
284 | I>L | No |
ClinGen TOPMed |
|
|
rs746436151 CA10368129 |
287 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768862054 CA10368131 |
292 | T>I | No |
ClinGen ExAC |
|
|
CA10368133 rs747696209 |
294 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000413674 rs1057517791 |
295 | A>missing | No |
ClinVar dbSNP |
|
|
rs769430757 CA10368134 |
295 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196981068 CA412572602 |
295 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA412572615 rs1197271636 |
296 | M>I | No |
ClinGen gnomAD |
|
|
CA412572610 rs1451534281 |
296 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA412572620 rs1255261975 |
297 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 298 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10368135 rs772921325 |
299 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs762535711 CA10368136 |
300 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10368137 rs199893153 |
301 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412572653 rs142755818 |
301 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1317766146 CA412572650 |
301 | N>S | No |
ClinGen TOPMed |
|
|
rs759411768 CA10368139 |
302 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10368140 rs767171186 |
303 | S>Y | No |
ClinGen ExAC |
|
|
rs754106853 CA10368141 |
304 | E>K | No |
ClinGen ExAC |
|
|
rs1064796929 RCV000481234 CA16621317 |
305 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs372663150 CA412572691 |
308 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372663150 RCV000899880 CA10368143 |
308 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1404681288 CA412572702 |
309 | I>T | No |
ClinGen gnomAD |
|
|
rs1930171625 RCV001208906 |
310 | P>missing | No |
ClinVar dbSNP |
|
|
rs1321395083 CA412572713 |
311 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021660256 CA327522405 |
313 | D>E | No |
ClinGen gnomAD |
|
|
CA10368160 rs757539874 |
313 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10603637 rs886041853 RCV000374807 |
314 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001039306 rs1930292419 |
314 | W>* | No |
ClinVar dbSNP |
|
| TCGA novel | 314 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10368162 rs763042990 |
316 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10368165 rs373261521 |
319 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1930293543 RCV001224378 |
320 | K>missing | No |
ClinVar dbSNP |
|
|
CA327522406 rs199965602 |
324 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA412572822 rs1475486575 |
325 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001233507 rs1930295441 RCV001062698 |
327 | Y>missing | No |
ClinVar dbSNP |
|
|
RCV001227757 rs1930295914 |
327 | Y>* | No |
ClinVar dbSNP |
|
|
rs1257801016 CA412572836 |
327 | Y>C | No |
ClinGen TOPMed |
|
|
rs201383931 CA10368167 |
328 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 329 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455114766 CA412572847 |
329 | H>Y | No |
ClinGen gnomAD |
|
|
CA10368168 rs756512186 |
330 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA412572866 rs1400973667 COSM1756506 |
332 | D>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA412572881 rs1273053106 |
334 | S>G | No |
ClinGen TOPMed |
|
|
rs770491624 RCV001234485 |
337 | E>* | No |
ClinVar dbSNP |
|
|
rs1409731254 CA412572904 |
337 | E>G | No |
ClinGen gnomAD |
|
|
CA10368171 rs770491624 |
337 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1930300418 RCV001210790 |
341 | V>missing | No |
ClinVar dbSNP |
|
|
CA10368173 rs745382329 |
341 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1930299982 RCV001327259 |
341 | V>missing | No |
ClinVar dbSNP |
|
|
RCV000933500 COSM233097 CA10368174 rs761575825 |
342 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10368177 COSM3786470 rs768400503 |
343 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1556026030 RCV000516208 |
344 | P>missing | No |
ClinVar dbSNP |
|
|
rs866640200 CA327522407 |
344 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1569391212 CA412572948 RCV000712531 |
345 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412572962 rs1181402104 |
347 | F>I | No |
ClinGen gnomAD |
|
|
CA10368178 rs773436322 |
348 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057517792 RCV000414311 |
349 | D>missing | No |
ClinVar dbSNP |
|
|
rs763094620 CA10368179 |
349 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA412573008 rs1182171577 |
353 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 355 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 355 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412573032 rs1162365508 |
357 | E>K | No |
ClinGen TOPMed |
|
|
CA327522408 rs185862803 |
360 | K>R | No |
ClinGen 1000Genomes |
|
|
rs936722686 CA327523391 |
363 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 363 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756929627 CA10368189 |
365 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001288264 rs1930962739 |
366 | L>DYL | No |
ClinVar dbSNP |
|
|
rs1930963615 RCV001220284 |
368 | W>* | No |
ClinVar dbSNP |
|
|
rs1930963832 RCV001041995 |
369 | R>* | No |
ClinVar dbSNP |
|
|
rs1306355598 CA412573143 |
370 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1930964041 RCV001071444 |
370 | M>R | No |
ClinVar dbSNP |
|
|
CA327523392 rs759015845 |
371 | V>I | No |
ClinGen Ensembl |
|
|
RCV001046382 rs1930964729 |
372 | Y>* | No |
ClinVar dbSNP |
|
|
CA412573153 rs1270311018 |
372 | Y>C | No |
ClinGen TOPMed |
|
|
rs778616699 CA10368190 COSM1714740 |
373 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
RCV001342791 rs1930965902 |
378 | L>P | No |
ClinVar dbSNP |
|
|
CA412573199 rs1271122235 |
379 | S>N | No |
ClinGen TOPMed |
|
|
RCV001237791 rs1930967080 |
380 | R>missing | No |
ClinVar dbSNP |
|
|
CA412573209 rs757894404 |
380 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs932260939 CA327523393 |
381 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA412573213 rs1167621943 |
381 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA412573211 rs932260939 |
381 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1930968296 RCV001071446 |
383 | Q>missing | No |
ClinVar dbSNP |
|
|
CA16621319 RCV000481323 rs1064796942 |
383 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779998335 CA412573229 |
383 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327523394 rs373233283 |
385 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV000402891 rs886041357 CA10603574 |
386 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10368194 rs746890776 |
388 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1464158699 CA412573296 |
392 | V>L | No |
ClinGen gnomAD |
|
|
RCV000413207 rs1057517793 CA16043225 |
394 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 395 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000992530 rs1602307030 |
396 | T>missing | No |
ClinVar dbSNP |
|
|
CA10368201 rs767652424 |
399 | L>S | No |
ClinGen ExAC |
|
|
rs886039745 CA10588760 RCV000254872 |
402 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10588761 RCV000254850 rs886039584 |
403 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1416252114 RCV000579166 CA412573392 |
406 | C>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs764695823 CA10368204 |
407 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463347924 CA412573395 |
407 | V>I | No |
ClinGen gnomAD |
|
|
rs1931146041 RCV001242166 |
409 | F>missing | No |
ClinVar dbSNP |
|
|
CA10368205 rs754314481 |
409 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1388249386 CA412573439 |
410 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1931147505 RCV001051822 |
413 | A>P | No |
ClinVar dbSNP |
|
|
rs886041446 RCV000335413 |
414 | L>missing | No |
ClinVar dbSNP |
|
|
rs764839343 CA10368207 |
421 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA412573632 rs1316294366 |
423 | V>A | No |
ClinGen TOPMed |
|
|
CA10368208 rs750052547 |
423 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757869310 CA10368209 |
428 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1034759966 CA327523650 |
429 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 429 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 430 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327523651 rs866362752 |
430 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 432 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1932101873 RCV001299423 |
435 | M>R | No |
ClinVar dbSNP |
|
|
RCV000317020 rs886041588 |
437 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 437 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412574544 rs1341755128 |
437 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 438 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16043231 rs1057517904 RCV000413016 |
438 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 439 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921572266 CA327525250 |
440 | E>K | No |
ClinGen Ensembl |
|
|
rs1302750593 CA412574572 |
441 | G>D | No |
ClinGen TOPMed |
|
|
CA10368224 rs777167473 |
442 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA327525251 rs1051297293 |
443 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1285918997 CA412574582 |
443 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1285918997 RCV001048810 |
443 | R>P | No |
ClinVar dbSNP |
|
|
rs1932104985 RCV001230954 |
446 | F>missing | No |
ClinVar dbSNP |
|
|
rs1569406160 CA412574612 |
447 | I>T | No |
ClinGen Ensembl |
|
|
RCV000255187 rs886039585 CA10588762 |
455 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001231526 rs886043680 |
456 | W>* | No |
ClinVar dbSNP |
|
|
CA10605818 rs886043680 RCV000413461 |
456 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412574683 rs1569406189 |
457 | M>L | No |
ClinGen Ensembl |
|
|
CA16621323 rs374873766 RCV000487357 |
461 | T>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374873766 CA10368228 |
461 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001066316 rs374873766 |
461 | T>R | No |
ClinVar dbSNP |
|
|
rs1932109241 RCV001208404 |
463 | R>missing | No |
ClinVar dbSNP |
|
|
RCV001040410 rs1932109437 |
465 | A>D | No |
ClinVar dbSNP |
|
|
CA327525254 rs898161591 |
466 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1932109848 RCV001048497 |
467 | E>missing | No |
ClinVar dbSNP |
|
|
RCV001220425 rs1932110045 |
467 | E>* | No |
ClinVar dbSNP |
|
|
CA412574787 rs1179252877 |
467 | E>G | No |
ClinGen gnomAD |
|
|
RCV001211920 rs1602324630 |
468 | K>E | No |
ClinVar dbSNP |
|
|
rs1932110651 RCV001215719 |
468 | K>T | No |
ClinVar dbSNP |
|
|
CA10368252 rs375593493 |
469 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1933405005 RCV001338694 |
471 | A>V | No |
ClinVar dbSNP |
|
| TCGA novel | 471 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395819372 CA412573957 |
472 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 474 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412573979 rs1400425269 |
475 | K>T | No |
ClinGen TOPMed |
|
|
CA10368253 rs766990714 |
476 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs886041360 CA10603645 RCV000273379 |
478 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1397057750 CA412573998 |
478 | Y>S | No |
ClinGen gnomAD |
|
|
rs756146878 CA10368255 |
482 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA412574051 rs1470415679 |
485 | D>G | No |
ClinGen TOPMed |
|
|
rs777560709 CA10368256 |
486 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA412574064 rs1423073006 |
487 | H>R | No |
ClinGen TOPMed |
|
|
CA10368258 rs369896990 |
488 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10368259 rs371934258 |
490 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747180101 CA10368260 |
494 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA412574717 rs1271290786 |
495 | I>V | No |
ClinGen gnomAD |
|
|
rs751837244 CA10368281 |
500 | A>D | No |
ClinGen ExAC TOPMed |
|
|
CA10368280 rs765067632 |
500 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
| TCGA novel | 500 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10368282 rs755284765 |
501 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA327528669 rs373235530 |
501 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA327528670 rs373235530 |
501 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV001208647 rs1933773048 |
502 | Y>* | No |
ClinVar dbSNP |
|
|
CA10368283 rs781248973 |
506 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001231229 rs1933773762 |
507 | L>P | No |
ClinVar dbSNP |
|
|
rs1933773605 RCV001313944 |
507 | L>V | No |
ClinVar dbSNP |
|
|
rs930432186 CA327528672 |
508 | Q>K | No |
ClinGen Ensembl |
|
|
rs1064793461 RCV000483977 |
509 | T>missing | No |
ClinVar dbSNP |
|
|
rs915608304 CA327528674 |
510 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10368285 rs753522380 |
511 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10368286 rs778363445 |
511 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001212749 rs1933775645 |
512 | Y>missing | No |
ClinVar dbSNP |
|
|
CA327528675 rs201266084 |
515 | Q>H | No |
ClinGen Ensembl |
|
|
CA412574915 rs1263905896 |
516 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 517 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749734873 CA10368287 |
518 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1162588212 CA412574952 |
521 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879138132 CA327528677 |
525 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1458186539 CA412574989 |
527 | K>E | No |
ClinGen gnomAD |
|
|
CA412574997 rs1157647777 |
528 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 529 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000478726 rs1556091873 |
532 | T>missing | No |
ClinVar dbSNP |
|
|
CA10368303 rs767812044 |
532 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1361761907 CA412575060 |
535 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199935279 CA327529564 |
539 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1602373702 CA412575136 |
547 | Q>K | No |
ClinGen Ensembl |
|
|
RCV000478030 CA16621328 rs1064794306 |
553 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16621329 rs1064797001 RCV000483049 |
554 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1934977011 RCV001205224 |
556 | Q>* | No |
ClinVar dbSNP |
|
|
RCV000340711 rs762828809 CA10368319 |
559 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 560 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886041837 RCV000322938 |
563 | T>missing | No |
ClinVar dbSNP |
|
|
CA412575681 rs1355899305 |
563 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 564 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001219160 rs1934977931 |
565 | Y>* | No |
ClinVar dbSNP |
|
|
rs760870713 CA10368322 |
567 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001226570 rs768470624 |
568 | S>P | No |
ClinVar dbSNP |
|
|
CA10368332 rs768470624 |
568 | S>T | No |
ClinGen ExAC |
|
|
rs1556135252 RCV000483750 |
570 | S>missing | No |
ClinVar dbSNP |
|
|
rs886041762 CA10603457 RCV000405748 |
571 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA16043311 rs1057517795 RCV000413745 |
572 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000481780 rs1064795106 CA16621331 |
572 | G>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1057517795 RCV000414654 CA16043263 |
572 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057520756 CA16609166 RCV000429437 |
573 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1556135320 RCV000479664 |
574 | I>missing | No |
ClinVar dbSNP |
|
|
rs1935181910 RCV001222296 |
574 | I>K | No |
ClinVar dbSNP |
|
|
CA10368333 rs780959710 |
574 | I>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000493080 rs1131692029 CA412575758 |
575 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057517979 RCV000414105 |
576 | V>D | No |
ClinVar dbSNP |
|
|
CA10368334 rs747692520 |
576 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1057517980 CA16608397 RCV000419789 |
579 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1935183456 RCV001067886 |
580 | H>D | No |
ClinVar dbSNP |
|
|
CA10368337 rs762728667 |
583 | T>I | No |
ClinGen ExAC |
|
|
CA327531784 rs925865428 |
583 | T>S | No |
ClinGen Ensembl |
|
|
rs1935184414 RCV001216031 |
584 | H>P | No |
ClinVar dbSNP |
|
|
RCV001242137 rs1935184925 |
586 | F>S | No |
ClinVar dbSNP |
|
|
rs772130004 CA327531785 |
588 | N>I | No |
ClinGen 1000Genomes |
|
|
RCV000484521 rs1064794305 |
589 | N>missing | No |
ClinVar dbSNP |
|
|
RCV001225136 rs1935269189 |
593 | Y>* | No |
ClinVar dbSNP |
|
|
rs1935269631 RCV001045847 |
597 | G>* | No |
ClinVar dbSNP |
|
|
rs1352160426 CA412573552 |
600 | D>Y | No |
ClinGen TOPMed |
|
|
rs886041726 RCV000324307 |
601 | P>missing | No |
ClinVar dbSNP |
|
|
CA412573570 rs1324928504 |
601 | P>L | No |
ClinGen TOPMed |
|
|
CA412573572 rs1324928504 |
601 | P>R | No |
ClinGen TOPMed |
|
|
RCV001233388 rs1935270550 |
602 | W>missing | No |
ClinVar dbSNP |
|
|
CA412573582 rs1569431986 RCV000760755 |
602 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002287401 CA10603716 RCV000375259 rs886041365 |
602 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1935270550 RCV001046884 |
603 | W>missing | No |
ClinVar dbSNP |
|
|
RCV000489292 CA412573594 rs755686699 |
603 | W>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs755686699 CA10368353 |
603 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1398473794 CA412573592 |
603 | W>S | No |
ClinGen TOPMed |
|
|
rs932844373 CA327531984 |
605 | T>A | No |
ClinGen Ensembl |
|
|
rs1344761290 CA412573615 |
605 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748815816 CA10368355 |
607 | S>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000494498 rs1131691645 |
611 | F>missing | No |
ClinVar dbSNP |
|
|
rs886041763 RCV000309078 |
611 | F>missing | No |
ClinVar dbSNP |
|
|
rs1342349139 CA412573713 |
612 | K>N | No |
ClinGen gnomAD |
|
|
rs886041366 RCV000280710 |
615 | T>missing | No |
ClinVar dbSNP |
|
|
rs1935273502 RCV001205334 |
616 | K>missing | No |
ClinVar dbSNP |
|
|
rs1935273095 RCV001047114 |
616 | K>missing | No |
ClinVar dbSNP |
|
|
rs1935273759 RCV001341764 |
617 | C>F | No |
ClinVar dbSNP |
|
|
RCV001226361 rs1935274009 |
618 | M>R | No |
ClinVar dbSNP |
|
| TCGA novel | 619 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943678568 CA327531986 |
623 | S>N | No |
ClinGen Ensembl |
|
|
rs1393019803 CA412573856 |
624 | N>Y | No |
ClinGen TOPMed |
|
|
CA412573866 rs1454862771 |
625 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA412573880 RCV000489955 rs1085307584 |
627 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001058881 rs1935275564 |
627 | W>* | No |
ClinVar dbSNP |
|
|
rs894501224 CA327531988 |
628 | K>E | No |
ClinGen TOPMed |
|
|
rs1569432053 CA412573889 |
628 | K>R | No |
ClinGen Ensembl |
|
|
CA327531989 rs868762842 |
631 | G>D | No |
ClinGen Ensembl |
|
|
CA412574151 rs1166547389 |
638 | R>G | No |
ClinGen TOPMed |
|
|
CA327532444 rs111636676 |
639 | T>N | No |
ClinGen Ensembl |
|
|
CA10368381 rs756017274 |
640 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1935506410 RCV001211281 |
640 | L>P | No |
ClinVar dbSNP |
|
|
rs1391338664 CA412574193 |
644 | I>T | No |
ClinGen TOPMed |
|
|
CA412574190 rs1180774758 |
644 | I>V | No |
ClinGen gnomAD |
|
|
rs1556148532 RCV001337414 |
646 | D>Y | No |
ClinVar dbSNP |
|
|
RCV000306173 CA10603652 rs886041269 |
647 | N>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs886041368 RCV000380313 CA10603461 |
647 | N>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1935507597 RCV001039487 |
648 | G>R | No |
ClinVar dbSNP |
|
|
rs748792378 CA10368384 |
651 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416068968 CA412574235 |
651 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1935508775 RCV001222246 |
653 | A>D | No |
ClinVar dbSNP |
|
|
rs1064796436 RCV000481401 |
654 | F>missing | No |
ClinVar dbSNP |
|
|
rs1935508894 RCV001340539 |
654 | F>I | No |
ClinVar dbSNP |
|
|
RCV000482207 rs1556151046 |
657 | Y>missing | No |
ClinVar dbSNP |
|
|
RCV001248463 rs1935547603 |
658 | R>missing | No |
ClinVar dbSNP |
|
|
rs774626712 CA10368417 |
661 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs886041371 RCV000399109 |
663 | D>missing | No |
ClinVar dbSNP |
|
|
CA412574343 rs1287415111 |
664 | R>K | No |
ClinGen TOPMed |
|
|
RCV001233187 rs1935548501 |
667 | G>missing | No |
ClinVar dbSNP |
|
|
RCV001212169 rs1935549248 |
671 | P>missing | No |
ClinVar dbSNP |
|
|
rs1045800391 CA327532526 |
671 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs759663012 CA10368418 |
671 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA412574390 rs1045800391 |
671 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1045800391 CA412574389 |
671 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000414091 rs896575405 CA16043239 |
672 | L>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001223790 rs1935549921 |
673 | L>R | No |
ClinVar dbSNP |
|
|
RCV001247895 rs1935550041 |
674 | P>missing | No |
ClinVar dbSNP |
|
|
rs199517401 CA10368420 |
674 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10368419 rs199517401 |
674 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA327532528 rs112577880 |
677 | T>A | No |
ClinGen ESP |
|
|
rs112577880 CA327532527 |
677 | T>P | No |
ClinGen ESP |
|
|
CA10368422 rs764465237 |
677 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1057518246 RCV000413688 |
678 | F>missing | No |
ClinVar dbSNP |
|
|
CA412574436 rs1391479397 |
679 | T>I | No |
ClinGen TOPMed |
|
|
rs373674171 CA10368424 |
684 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000383530 rs886041840 |
685 | F>missing | No |
ClinVar dbSNP |
|
|
rs1935552095 RCV001235605 |
685 | F>missing | No |
ClinVar dbSNP |
|
|
rs764784243 CA10368425 |
686 | L>M | No |
ClinGen ExAC gnomAD |
|
|
RCV001218232 rs1935552635 |
686 | L>P | No |
ClinVar dbSNP |
|
|
CA16621338 rs1064794849 RCV000486427 |
687 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs886041373 CA10603655 RCV000346510 |
688 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001317702 rs1935553204 |
689 | A>P | No |
ClinVar dbSNP |
|
|
CA16621339 RCV000478010 rs1064794999 |
693 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001234409 rs1064794999 |
693 | C>S | No |
ClinVar dbSNP |
|
|
rs1936360149 RCV001056324 |
695 | S>missing | No |
ClinVar dbSNP |
|
|
CA327534468 rs1020905350 |
695 | S>F | No |
ClinGen Ensembl |
|
|
rs1936360418 RCV001056325 |
696 | Y>missing | No |
ClinVar dbSNP |
|
|
CA412575210 rs1472911206 |
698 | P>S | No |
ClinGen gnomAD |
|
|
RCV001217035 rs1936360754 |
699 | E>* | No |
ClinVar dbSNP |
|
|
RCV001206110 rs1936360966 |
701 | A>missing | No |
ClinVar dbSNP |
|
|
CA327534469 rs746918835 |
701 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1358095108 CA412575235 |
702 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10368438 rs747487296 |
703 | E>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000479229 rs1064796540 |
706 | Q>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 708 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1726571 CA412575282 rs1368534688 |
709 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs886041375 RCV000486516 |
713 | P>missing | No |
ClinVar dbSNP |
|
|
RCV001227397 rs1936362707 |
714 | Q>missing | No |
ClinVar dbSNP |
|
|
RCV000311640 rs886041375 |
714 | Q>missing | No |
ClinVar dbSNP |
|
|
CA327534470 rs902332651 |
714 | Q>H | No |
ClinGen Ensembl |
|
|
rs769039646 COSM1220324 CA10368439 |
714 | Q>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA412575321 rs1375368071 |
715 | F>L | No |
ClinGen gnomAD |
|
|
RCV001223734 rs1936363158 |
716 | R>T | No |
ClinVar dbSNP |
|
|
RCV001219870 rs1936436245 |
717 | V>F | No |
ClinVar dbSNP |
|
|
rs191028600 CA327534656 |
718 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191028600 CA10368461 |
718 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA16043249 rs1057517798 RCV000414545 |
720 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs372307955 CA10368463 |
721 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766003166 CA10368462 |
721 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001221409 rs1936437304 |
722 | S>missing | No |
ClinVar dbSNP |
|
|
rs1556205980 RCV000657811 |
723 | N>* | No |
ClinVar dbSNP |
|
|
CA10368465 rs767518128 |
725 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 728 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 729 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1936438118 RCV001218409 |
730 | A>missing | No |
ClinVar dbSNP |
|
|
CA10368466 rs752729907 |
730 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001223337 rs1936438347 |
731 | F>C | No |
ClinVar dbSNP |
|
|
rs376952568 CA327534657 |
732 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV000479634 rs1064794150 CA16621344 |
733 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000413547 CA16043226 rs1057517981 |
733 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412575471 rs1195003739 |
735 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 736 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367955819 CA327534658 |
736 | N>S | No |
ClinGen ESP |
|
|
CA412575512 rs1251868441 |
741 | R>G | No |
ClinGen gnomAD |
|
|
rs1430905509 CA412575522 |
742 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA412575524 rs1430905509 |
742 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 744 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16043228 RCV000413405 rs1057517799 |
746 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057517799 RCV001219014 |
746 | C>Y | No |
ClinVar dbSNP |
|
|
RCV001214030 rs1936440191 |
747 | R>missing | No |
ClinVar dbSNP |
|
|
CA10368470 rs138773278 COSM3379441 |
747 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1057517800 RCV000413761 |
749 | W>missing | No |
ClinVar dbSNP |
|
|
RCV001049291 rs1936441227 |
749 | W>S | No |
ClinVar dbSNP |
|
|
rs1936441464 RCV001243998 |
750 | W>Y | No |
ClinVar dbSNP |
1 associated diseases with P78562
[MIM: 307800]: Hypophosphatemic rickets, X-linked dominant (XLHR)
A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. {ECO:0000269|PubMed:10439971, ECO:0000269|PubMed:10737991, ECO:0000269|PubMed:11004247, ECO:0000269|PubMed:9097956, ECO:0000269|PubMed:9106524, ECO:0000269|PubMed:9199930, ECO:0000269|PubMed:9768646, ECO:0000269|PubMed:9768674}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. {ECO:0000269|PubMed:10439971, ECO:0000269|PubMed:10737991, ECO:0000269|PubMed:11004247, ECO:0000269|PubMed:9097956, ECO:0000269|PubMed:9106524, ECO:0000269|PubMed:9199930, ECO:0000269|PubMed:9768646, ECO:0000269|PubMed:9768674}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| zinc ion binding | Binding to a zinc ion (Zn). |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| bone development | The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. |
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| cellular response to parathyroid hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a parathyroid hormone stimulus. |
| cellular response to vitamin D | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| odontogenesis | The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. |
| organophosphate metabolic process | The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. |
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| response to growth hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth hormone stimulus. Growth hormone is a peptide hormone that binds to the growth hormone receptor and stimulates growth. |
| response to insulin-like growth factor stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin-like growth factor stimulus. |
| response to sodium phosphate | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sodium phosphate stimulus. |
| skeletal system development | The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P42892 | ECE1 | Endothelin-converting enzyme 1 | Homo sapiens (Human) | PR |
| P70669 | Phex | Phosphate-regulating neutral endopeptidase PHEX | Mus musculus (Mouse) | PR |
| P0C1T0 | Mmel1 | Membrane metallo-endopeptidase-like 1 | Rattus norvegicus (Rat) | PR |
| Q22523 | nep-21 | Neprilysin-21 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAETGSSVE | TGKKANRGTR | IALVVFVGGT | LVLGTILFLV | SQGLLSLQAK | QEYCLKPECI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EAAAAILSKV | NLSVDPCDNF | FRFACDGWIS | NNPIPEDMPS | YGVYPWLRHN | VDLKLKELLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KSISRRRDTE | AIQKAKILYS | SCMNEKAIEK | ADAKPLLHIL | RHSPFRWPVL | ESNIGPEGVW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SERKFSLLQT | LATFRGQYSN | SVFIRLYVSP | DDKASNEHIL | KLDQATLSLA | VREDYLDNST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EAKSYRDALY | KFMVDTAVLL | GANSSRAEHD | MKSVLRLEIK | IAEIMIPHEN | RTSEAMYNKM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NISELSAMIP | QFDWLGYIKK | VIDTRLYPHL | KDISPSENVV | VRVPQYFKDL | FRILGSERKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TIANYLVWRM | VYSRIPNLSR | RFQYRWLEFS | RVIQGTTTLL | PQWDKCVNFI | ESALPYVVGK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MFVDVYFQED | KKEMMEELVE | GVRWAFIDML | EKENEWMDAG | TKRKAKEKAR | AVLAKVGYPE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FIMNDTHVNE | DLKAIKFSEA | DYFGNVLQTR | KYLAQSDFFW | LRKAVPKTEW | FTNPTTVNAF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YSASTNQIRF | PAGELQKPFF | WGTEYPRSLS | YGAIGVIVGH | EFTHGFDNNG | RKYDKNGNLD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PWWSTESEEK | FKEKTKCMIN | QYSNYYWKKA | GLNVKGKRTL | GENIADNGGL | REAFRAYRKW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| INDRRQGLEE | PLLPGITFTN | NQLFFLSYAH | VRCNSYRPEA | AREQVQIGAH | SPPQFRVNGA |
| 730 | 740 | ||||
| ISNFEEFQKA | FNCPPNSTMN | RGMDSCRLW |