Q9HBG4
PR
Gene name |
ATP6V0A4 (ATP6N1B, ATP6N2) |
Protein name |
V-type proton ATPase 116 kDa subunit a 4 |
Names |
V-ATPase 116 kDa isoform a 4, Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4, Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:50617 |
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
2 structures for Q9HBG4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7UNF | EM | 408 A | a | 1-840 | PDB |
| AF-Q9HBG4-F1 | Predicted | AlphaFoldDB |
669 variants for Q9HBG4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000245255 RCV001258276 RCV001515793 VAR_020992 RCV000357816 rs10258719 CA4505278 |
2 | V>A | Autosomal recessive distal renal tubular acidosis Bailey-Bloch congenital myopathy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147512254 RCV001164279 CA4505274 COSM170496 |
6 | R>Q | Autosomal recessive distal renal tubular acidosis Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587776616 RCV001807627 |
36 | Q>missing | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000987980 rs1584934951 |
123 | E>missing | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4505129 rs144802156 RCV001797709 RCV000342844 COSM1312723 |
140 | T>M | Autosomal recessive distal renal tubular acidosis urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_020993 | 175 | G>D | DRTA3 [UniProt] | Yes | UniProt |
|
RCV002543785 CA4505043 RCV001319763 rs1554398212 |
217 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_020994 | 237 | K>del | DRTA3 [UniProt] | Yes | UniProt |
|
CA4505009 RCV001516110 RCV000291520 rs61747681 |
252 | P>R | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1445362077 RCV000624190 |
259 | M>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001162250 rs1386329721 CA369374206 |
264 | N>D | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs538080700 RCV000385831 CA4504991 |
270 | L>I | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV003168556 RCV002523584 rs147475779 RCV000349852 CA4504990 RCV002481233 |
271 | I>N | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002032486 rs767146505 RCV001160636 RCV002480568 CA4504965 |
278 | E>D | Autosomal recessive distal renal tubular acidosis Variant assessed as Somatic; 0.0 impact. Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4504961 rs532107577 RCV001160635 |
281 | R>H | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144697860 RCV002504467 COSM227774 RCV001308092 CA4504957 |
294 | S>F | NS Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4504948 RCV002519499 rs201744457 RCV000389142 |
316 | V>I | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA369372548 RCV001160633 rs1293966606 |
324 | E>K | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001159274 RCV000244658 rs61747674 CA4504902 RCV000949318 |
345 | L>I | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002559529 CA4504848 RCV001159273 RCV002557362 RCV002491462 rs140896827 |
397 | T>A | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4504840 rs763982675 RCV002480305 RCV000763163 RCV000442300 |
411 | D>Y | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4504827 rs370116072 RCV002491473 RCV001164174 |
431 | R>C | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_020995 RCV001849435 rs1443883930 RCV000761256 COSM1448393 CA369371085 |
449 | R>H | Distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis Variant assessed as Somatic; 0.0 impact. large_intestine DRTA3 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4504785 RCV002480242 RCV001318246 RCV000264705 rs368301208 |
462 | T>M | Autosomal recessive distal renal tubular acidosis Variant assessed as Somatic; 0.0 impact. Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777210633 CA4504774 RCV001164173 |
489 | N>S | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000893603 RCV001843515 CA4504744 RCV000359274 rs142818468 |
500 | S>G | Autosomal recessive distal renal tubular acidosis Distal Renal Tubular Acidosis, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA117296 rs121908369 RCV001807632 |
502 | Y>* | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000005464 rs121908368 RCV001807631 CA117295 VAR_017255 RCV002512809 |
524 | P>L | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss DRTA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001393533 rs147301634 RCV001162149 RCV002557383 CA4504692 |
557 | I>F | Autosomal recessive distal renal tubular acidosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA167134043 rs369486474 RCV002485835 RCV000722870 |
559 | S>C | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs774244498 CA4504665 RCV002497592 RCV001760114 RCV001162148 |
568 | R>T | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000779531 rs1562989815 |
577 | I>missing | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001162147 rs1805106046 |
578 | P>L | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000308175 RCV002488800 rs150912912 CA4504660 |
580 | M>I | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000244134 CA117293 RCV001807628 RCV001512758 RCV000005461 rs3807153 VAR_017256 |
580 | M>T | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss DRTA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000987978 RCV002505498 CA369379369 rs1584907924 |
585 | C>* | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA167133037 RCV002559538 rs201399022 RCV001160527 |
626 | D>Y | Autosomal recessive distal renal tubular acidosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA4504630 rs73730479 RCV001805028 RCV001511900 RCV000366476 |
630 | A>T | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554393418 RCV000661990 CA369378571 |
635 | H>P | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000622987 rs1252623454 RCV002499011 |
663 | R>missing | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001159172 rs150777839 RCV000958607 CA4504555 RCV000254069 |
679 | D>Y | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147889261 RCV002491461 RCV002557359 CA4504554 RCV001159171 RCV002559527 |
682 | E>D | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376273720 RCV002558406 CA4504539 CA167126615 RCV002505738 RCV001159170 |
705 | G>R | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1804439932 RCV001807652 |
713 | E>missing | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142860146 CA4504501 RCV001159169 |
731 | C>Y | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121908367 CA117286 RCV001807624 RCV003223607 RCV000005457 |
753 | Q>* | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10628263 RCV000391011 rs886062012 |
754 | L>M | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001043028 rs190792699 CA4504458 RCV002497377 RCV002552516 |
766 | G>S | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs61747678 RCV000958983 RCV000350624 CA4504455 |
769 | T>M | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754517968 RCV000779530 RCV002501016 RCV001384944 CA4504453 |
770 | R>* | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002548326 RCV000968117 rs142313541 CA4504450 RCV003151246 |
776 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142313541 RCV001164078 |
776 | V>L | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4504432 RCV000523579 rs769164245 RCV001778990 |
807 | R>* | Autosomal recessive distal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_020996 RCV001807633 CA117298 rs28939081 RCV000005466 RCV001557688 |
807 | R>Q | Autosomal recessive distal renal tubular acidosis Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss DRTA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA167113384 RCV000987977 rs934266733 |
817 | F>L | Autosomal recessive distal renal tubular acidosis Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs267606671 RCV001807625 RCV001851665 CA369373931 VAR_017257 CA117288 |
820 | G>R | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss DRTA3 [ClinVar, UniProt] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
CA4504405 rs141194465 RCV001317795 RCV002493661 |
824 | K>R | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA369380207 RCV001323520 rs10258719 |
2 | V>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs10258719 CA369380208 |
2 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769417807 CA4505275 |
6 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369380180 rs1378760129 |
7 | S>N | No |
ClinGen gnomAD |
|
|
rs777850731 CA369380177 |
7 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894665573 CA167142550 |
8 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA369380162 rs1178453845 |
9 | E>D | No |
ClinGen TOPMed |
|
|
rs1055939841 CA4505271 |
10 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4505270 rs758730888 |
10 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1374810796 CA369380122 |
15 | L>Q | No |
ClinGen gnomAD |
|
|
CA167142527 rs199577631 |
16 | F>I | No |
ClinGen 1000Genomes |
|
|
CA369380104 rs1384393001 |
18 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1159301747 CA369380098 |
19 | V>M | No |
ClinGen gnomAD |
|
|
rs755114471 CA4505267 |
20 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs755114471 CA369380092 |
20 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4505266 rs754242050 |
21 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1393351118 CA369379737 |
22 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA369379707 rs1335174688 |
23 | Y>* | No |
ClinGen TOPMed |
|
|
CA4505265 rs766968071 |
23 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369379724 rs1433112818 |
23 | Y>H | No |
ClinGen gnomAD |
|
|
rs938829479 CA167136275 |
25 | C>R | No |
ClinGen Ensembl |
|
|
CA369379655 rs1444710096 |
26 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1205264414 CA369379636 |
28 | E>Q | No |
ClinGen gnomAD |
|
|
rs767136907 CA4505262 |
29 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA167136254 rs987993295 |
30 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1233261241 CA369379603 |
30 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768085481 CA4505259 |
31 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745618366 CA4505255 |
33 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4505256 COSM3718690 rs139370870 |
33 | G>R | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1173300423 CA369379557 |
34 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4505253 rs770882514 |
35 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4505251 rs779291979 |
36 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA369379542 rs1426145119 |
37 | F>L | No |
ClinGen Ensembl |
|
|
CA369379522 rs1257857936 |
39 | D>V | No |
ClinGen gnomAD |
|
|
CA369379231 rs1186714141 |
42 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs746859295 CA4505234 |
43 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs868407303 CA167134761 |
46 | S>I | No |
ClinGen Ensembl |
|
|
rs1437068237 CA369379111 |
47 | F>L | No |
ClinGen gnomAD |
|
|
CA4505232 rs768967518 |
50 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA4505231 rs749309505 |
50 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780135307 CA4505230 |
51 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4505228 rs756176052 |
54 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA167134744 rs1051958411 |
54 | E>V | No |
ClinGen gnomAD |
|
|
CA369378893 rs746304271 |
55 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4505227 rs746304271 |
55 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563012304 CA369378809 |
57 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 57 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781671070 CA4505225 |
58 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4505224 rs751987249 |
59 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4505223 rs751987249 |
59 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA369378682 rs1584939923 |
63 | R>K | No |
ClinGen Ensembl |
|
|
rs758117225 CA4505221 |
64 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4505220 rs146911574 |
66 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265979906 CA369378505 |
66 | R>H | No |
ClinGen TOPMed |
|
|
rs1354681809 CA369378489 |
69 | E>K | No |
ClinGen gnomAD |
|
|
CA369378474 rs1232526730 |
71 | E>K | No |
ClinGen gnomAD |
|
|
rs1370746302 CA369378428 |
73 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369378431 rs1370746302 |
73 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369378425 rs1302537397 |
73 | Q>R | No |
ClinGen gnomAD |
|
|
CA369378385 rs1466415536 |
75 | E>D | No |
ClinGen TOPMed |
|
|
rs1199544035 CA369378372 |
76 | I>T | No |
ClinGen gnomAD |
|
|
CA167134259 rs929483161 |
82 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 84 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764857690 CA4505192 |
84 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764857690 CA369378275 |
84 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4505190 rs533406605 |
87 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001247211 CA4505188 rs200954029 |
88 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM309370 rs200954029 CA369378249 |
88 | P>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA167134210 rs942093055 |
91 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4505186 rs564427621 |
91 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1584939570 CA369378207 |
95 | T>P | No |
ClinGen Ensembl |
|
|
rs551006652 CA4505185 |
95 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369377672 rs1394108506 |
98 | T>I | No |
ClinGen gnomAD |
|
|
CA4505160 rs772495349 |
99 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4505161 rs773766934 |
99 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167130147 rs890598515 |
102 | K>E | No |
ClinGen Ensembl |
|
|
CA4505158 rs779102605 |
105 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA369377516 rs1207000053 |
106 | E>G | No |
ClinGen TOPMed |
|
|
rs1189914823 CA369377470 |
108 | Q>R | No |
ClinGen gnomAD |
|
|
rs1233844406 CA369376880 |
111 | N>S | No |
ClinGen TOPMed |
|
|
rs779869631 RCV000287838 CA4505156 |
112 | Q>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4505155 rs779869631 |
112 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179541056 CA369376861 |
114 | Q>E | No |
ClinGen TOPMed |
|
|
CA369376858 rs1431045681 |
114 | Q>R | No |
ClinGen TOPMed |
|
|
CA4505153 rs373099295 |
115 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757190930 CA4505151 |
116 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4505150 rs140207554 |
118 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563008576 CA369376824 |
119 | Q>R | No |
ClinGen Ensembl |
|
|
CA369376817 rs1284386310 |
120 | S>N | No |
ClinGen gnomAD |
|
|
CA369376789 rs1411998513 |
124 | L>V | No |
ClinGen gnomAD |
|
|
CA369376753 rs1164726585 |
129 | Y>C | No |
ClinGen gnomAD |
|
|
rs1353689346 CA369376757 |
129 | Y>H | No |
ClinGen TOPMed |
|
|
CA4505148 rs758193098 |
130 | L>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1308241730 CA369376740 |
132 | K>Q | No |
ClinGen gnomAD |
|
|
CA369376735 rs1584934929 |
132 | K>R | No |
ClinGen Ensembl |
|
|
rs754047220 CA4505147 |
134 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760777799 CA4505145 |
135 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs61747679 | 140 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867752659 CA167129787 COSM177435 |
141 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4505127 rs778873408 RCV001296721 |
143 | N>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 143 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767434417 CA4505126 |
145 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774988387 CA4505124 |
147 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs761968599 CA4505125 |
147 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4505123 rs764761203 |
148 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1326445525 CA369376598 |
150 | T>I | No |
ClinGen TOPMed |
|
|
CA167129752 rs796159349 |
151 | E>K | No |
ClinGen Ensembl |
|
|
rs763376702 CA4505122 |
152 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4505121 rs776043280 |
153 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA369376547 rs1217064939 |
153 | T>I | No |
ClinGen gnomAD |
|
|
rs757211932 CA167129739 |
154 | S>P | No |
ClinGen Ensembl |
|
|
rs1482892962 CA369376524 |
155 | G>D | No |
ClinGen TOPMed |
|
|
CA369376490 rs1261966753 |
157 | L>P | No |
ClinGen gnomAD |
|
|
rs141041539 CA4505117 |
158 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277901726 CA369376376 |
164 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369376371 rs777658246 |
165 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4505115 rs777658246 |
165 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA4505114 rs758379672 |
166 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs748107055 CA4505113 |
167 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4505112 rs778642531 |
168 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369376307 rs1411597078 |
169 | K>Q | No |
ClinGen TOPMed |
|
|
rs191361533 CA4505111 |
171 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs541864498 CA4505091 |
172 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA167127571 rs751849649 |
173 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4505090 rs751849649 |
173 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167127577 rs189476989 |
173 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs146482568 CA4505088 |
175 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4505087 rs753195981 |
175 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs759790025 CA4505085 |
176 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1457260266 CA369375633 |
178 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369375624 rs1258679224 |
179 | R>S | No |
ClinGen gnomAD |
|
|
CA369375615 rs1200583333 |
180 | E>D | No |
ClinGen gnomAD |
|
|
CA369375618 rs1476981664 |
180 | E>G | No |
ClinGen gnomAD |
|
|
CA167127521 rs865990053 |
181 | R>T | No |
ClinGen Ensembl |
|
|
rs1320030616 CA369375600 |
182 | M>I | No |
ClinGen gnomAD |
|
|
CA369375596 COSM396234 rs1289338918 |
183 | A>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 184 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754280401 CA4505084 |
185 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4505082 rs777814430 |
187 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748712784 CA4505083 |
187 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252350773 CA369375553 |
190 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA167127475 rs374791119 |
191 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4505081 COSM274094 rs374791119 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA369375529 rs1333976244 |
194 | R>* | No |
ClinGen gnomAD |
|
|
rs1563006614 CA369375528 COSM3381817 |
194 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1466698153 CA369375525 |
195 | G>R | No |
ClinGen gnomAD |
|
|
rs1347617945 CA369375514 |
196 | N>I | No |
ClinGen gnomAD |
|
|
CA369375511 CA369375510 rs756026017 |
197 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA4505079 rs756026017 |
197 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415603939 CA369375506 |
198 | Y>H | No |
ClinGen gnomAD |
|
|
rs371220351 CA4505078 |
200 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748058864 CA167127430 |
201 | F>I | No |
ClinGen Ensembl |
|
|
CA4505077 rs768675486 |
202 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113776781 CA4505076 |
204 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4505074 rs769738882 |
206 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769738882 CA167127373 |
206 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369375446 rs769738882 |
206 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167127366 rs1048407623 |
206 | A>V | No |
ClinGen TOPMed |
|
|
rs778153241 CA4505072 |
207 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4505073 rs747161565 |
207 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369375435 rs1323697408 |
208 | L>P | No |
ClinGen gnomAD |
|
|
rs758537884 CA4505071 |
209 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770836899 CA167127347 |
210 | D>G | No |
ClinGen Ensembl |
|
|
rs748304353 CA4505070 |
210 | D>H | No |
ClinGen ExAC gnomAD |
|
| rs754335968 | 213 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369375405 rs539497353 |
213 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1086037 CA4505068 rs539497353 |
213 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 216 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4505045 rs745715623 |
216 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265672104 CA369375082 |
218 | Q>E | No |
ClinGen gnomAD |
|
|
rs773563564 CA4505042 |
221 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1257062188 CA369374939 |
223 | I>V | No |
ClinGen gnomAD |
|
|
CA4505039 rs201940817 |
224 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779748042 CA167125462 |
224 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs201940817 CA4505038 |
224 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4505040 rs779748042 |
224 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA369374844 rs1455540225 |
227 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4505037 rs749748583 |
227 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1462089642 CA369374803 |
229 | E>* | No |
ClinGen TOPMed |
|
|
CA4505036 rs780486242 |
230 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1297303388 CA369374730 |
232 | R>G | No |
ClinGen gnomAD |
|
|
CA369374684 rs1563004634 |
233 | Q>H | No |
ClinGen Ensembl |
|
|
rs1240929087 CA369374644 |
235 | I>V | No |
ClinGen TOPMed |
|
|
CA4505035 rs192215996 |
236 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1178659487 CA369374589 |
238 | I>N | No |
ClinGen TOPMed |
|
|
rs1303301391 CA369374557 |
240 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584929751 CA369374412 |
242 | F>L | No |
ClinGen Ensembl |
|
|
CA4505015 rs746392396 |
242 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs768888538 COSM1673587 CA4505014 |
243 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768888538 CA4505013 |
243 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs377068937 CA369374404 |
243 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377068937 CA4505012 |
243 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419735652 CA369374385 |
244 | A>V | No |
ClinGen TOPMed |
|
|
CA4505010 rs757920987 |
246 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369374376 rs1167622017 |
246 | V>I | No |
ClinGen TOPMed |
|
|
rs753832938 CA4505007 |
253 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753832938 CA4505006 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4505002 rs774631426 |
254 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760448685 CA4505004 |
254 | V>M | No |
ClinGen ExAC |
|
|
rs1584929673 CA369374320 |
255 | E>G | No |
ClinGen Ensembl |
|
|
CA4505001 rs768804683 |
256 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs775496062 COSM1739402 CA4504999 |
256 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775496062 CA4505000 |
256 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504998 rs769889398 |
260 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746304347 CA4504997 |
261 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs977638982 CA167124564 |
262 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771311335 CA4504995 |
263 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs781671157 COSM2149637 CA4504996 |
263 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747398107 CA4504994 |
264 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369374171 rs1418182392 |
266 | R>K | No |
ClinGen gnomAD |
|
|
rs758034896 CA4504992 |
268 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1386536949 CA369374109 |
270 | L>S | No |
ClinGen TOPMed |
|
|
CA369373172 rs1563002511 |
274 | I>T | No |
ClinGen Ensembl |
|
|
CA369373176 rs1232800837 |
274 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 278 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77760947 CA167121594 |
280 | H>P | No |
ClinGen Ensembl |
|
|
CA4504963 rs752899434 |
280 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504962 rs765508266 |
281 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504960 rs776740407 |
283 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369373041 rs1235506386 |
283 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1584926962 CA369373005 |
287 | E>K | No |
ClinGen Ensembl |
|
|
rs1584926946 CA369372982 |
288 | A>D | No |
ClinGen Ensembl |
|
|
rs1039893783 CA167121575 |
289 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369372956 rs1190479257 |
290 | A>D | No |
ClinGen TOPMed |
|
|
rs761020690 CA4504958 |
291 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369372942 rs761020690 |
291 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755828542 CA167121557 |
292 | W>* | No |
ClinGen Ensembl |
|
|
rs1317407862 CA369372910 |
293 | H>D | No |
ClinGen gnomAD |
|
|
rs372539397 CA4504956 |
297 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA369372843 rs1216568342 |
297 | I>V | No |
ClinGen gnomAD |
|
|
rs1584926878 CA369372798 |
299 | V>G | No |
ClinGen Ensembl |
|
|
rs912615549 CA167121550 |
299 | V>L | No |
ClinGen Ensembl |
|
|
CA369372791 rs1385550296 |
300 | Q>* | No |
ClinGen gnomAD |
|
|
rs1329942351 CA369372789 |
300 | Q>R | No |
ClinGen gnomAD |
|
|
CA369372701 rs1584926856 |
302 | M>V | No |
ClinGen Ensembl |
|
|
rs1411293055 CA369372655 |
308 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774118896 CA4504954 |
308 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs768474723 CA4504953 |
309 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4504952 rs140954628 |
311 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779395586 CA4504951 |
312 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755649208 CA4504950 |
315 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757038554 CA4504947 |
319 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4504946 rs751393881 |
321 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1307634065 CA369372552 |
323 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4504943 rs754096321 |
326 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA369372512 rs1298220188 |
328 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4504941 rs760867942 |
331 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504940 rs142011055 |
332 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375991138 CA4504939 |
332 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA167121397 rs202070044 |
334 | R>C | No |
ClinGen gnomAD |
|
|
CA4504938 rs148156124 |
334 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000486230 rs1064796145 |
336 | K>missing | No |
ClinVar dbSNP |
|
|
CA369372468 rs1408684681 |
336 | K>R | No |
ClinGen gnomAD |
|
|
CA4504936 rs769179040 |
338 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4504935 rs762623322 |
338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1184544509 CA369372431 |
342 | G>S | No |
ClinGen TOPMed |
|
|
rs775218238 CA4504934 |
343 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA369371970 rs1383599711 COSM1184115 |
345 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4504901 rs780119294 |
347 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs780119294 CA369371960 |
347 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs372252307 CA167117832 |
348 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372252307 CA369371951 |
348 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs756314168 CA4504900 |
349 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4504898 rs76977934 |
350 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757422502 CA4504897 |
351 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369371935 rs1380606867 |
351 | A>S | No |
ClinGen TOPMed |
|
|
rs1380606867 CA369371937 |
351 | A>T | No |
ClinGen TOPMed |
|
|
rs757422502 CA369371933 |
351 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369371924 rs1452346436 |
353 | I>F | No |
ClinGen TOPMed |
|
|
CA369371925 rs1452346436 |
353 | I>V | No |
ClinGen TOPMed |
|
|
CA4504894 rs764761158 |
356 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200597161 CA167117762 |
357 | V>L | No |
ClinGen Ensembl |
|
|
COSM279070 CA369371892 rs1226218405 |
358 | Q>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1307781678 CA369371879 |
360 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1584923766 CA369371870 |
361 | T>P | No |
ClinGen Ensembl |
|
|
CA369371857 rs1356332159 |
363 | P>L | No |
ClinGen TOPMed |
|
|
CA369371841 rs1192335760 |
366 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1337346118 CA369371827 |
367 | N>K | No |
ClinGen gnomAD |
|
|
CA369371818 rs1460856303 |
369 | T>A | No |
ClinGen TOPMed |
|
|
rs776269848 CA4504889 |
370 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4504888 rs765861392 |
371 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1375044853 CA369371772 |
376 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369371743 rs1423622926 |
379 | I>M | No |
ClinGen gnomAD |
|
|
rs1163101033 CA369371748 |
379 | I>V | No |
ClinGen gnomAD |
|
|
rs1244211425 CA369371728 |
382 | A>T | No |
ClinGen gnomAD |
|
|
rs367645346 CA167117707 |
382 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1456867579 CA369371719 |
383 | Y>C | No |
ClinGen gnomAD |
|
|
rs1235821697 CA369371712 |
384 | G>D | No |
ClinGen gnomAD |
|
|
CA4504885 rs772098036 |
386 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504884 rs748060653 |
386 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4504880 rs144710689 |
389 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4504881 rs374678750 |
389 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369371678 rs1374662532 |
390 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369371676 rs1584923653 |
390 | E>G | No |
ClinGen Ensembl |
|
|
CA4504853 rs755337830 |
395 | P>L | Variant assessed as Somatic; 9.268e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA167116202 rs975403395 |
395 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV002274547 rs566440675 |
396 | Y>missing | No |
ClinVar dbSNP |
|
| rs566440675 | 396 | Y>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195967362 CA369371620 |
397 | T>I | No |
ClinGen gnomAD |
|
|
rs1195967362 CA369371619 |
397 | T>S | No |
ClinGen gnomAD |
|
|
CA4504846 rs369093737 |
398 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1254294178 CA369371610 |
399 | I>V | No |
ClinGen gnomAD |
|
|
rs1035600120 CA167116168 |
401 | F>Y | No |
ClinGen TOPMed |
|
|
rs755721786 CA4504845 |
403 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750077972 CA369371567 |
405 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274788352 CA369371572 |
405 | F>L | No |
ClinGen TOPMed |
|
|
CA4504843 rs766990749 |
406 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504841 rs751514919 |
408 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA369371551 rs1326223485 |
408 | M>T | No |
ClinGen gnomAD |
|
|
CA167116119 rs1022723650 |
408 | M>V | No |
ClinGen TOPMed |
|
|
rs763982675 CA369371533 |
411 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504839 rs762822409 |
412 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs372525689 CA4504838 |
413 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372525689 CA4504837 |
413 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs550454551 CA4504835 RCV001340255 |
414 | H>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA4504834 rs757345455 |
415 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA369371506 rs1490375337 |
415 | G>E | No |
ClinGen TOPMed |
|
|
CA4504832 rs530406140 |
417 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA167116060 rs201864505 |
418 | M>T | No |
ClinGen Ensembl |
|
|
rs1476253644 CA369371491 |
418 | M>V | No |
ClinGen TOPMed |
|
|
COSM1086032 rs769100205 CA4504831 |
422 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA369371442 rs1562998897 |
425 | M>I | No |
ClinGen Ensembl |
|
|
CA167116051 rs958411711 |
425 | M>T | No |
ClinGen Ensembl |
|
|
rs749823583 CA4504830 |
427 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4504829 rs780327584 |
429 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4504828 rs756480874 |
430 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504825 rs531117418 |
431 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4504826 rs531117418 |
431 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433391276 CA369371402 |
432 | L>W | No |
ClinGen gnomAD |
|
|
CA369371386 rs1367464081 |
434 | S>F | No |
ClinGen TOPMed |
|
|
CA4504824 rs751082290 |
435 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4504822 rs762946484 |
437 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs138079822 CA4504821 |
439 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761872689 CA4504798 |
441 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361139533 CA369371127 |
442 | W>C | No |
ClinGen TOPMed |
|
|
CA4504797 rs542662856 |
443 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046568501 CA167113604 |
444 | T>N | No |
ClinGen TOPMed |
|
|
CA4504795 rs368858299 |
447 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764141423 CA4504796 |
447 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504793 rs374533066 |
448 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370861594 RCV001229476 COSM1184114 CA4504792 |
449 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA369371082 rs1185342768 |
450 | Y>N | No |
ClinGen TOPMed |
|
|
rs1302290047 CA369371055 |
454 | L>F | No |
ClinGen gnomAD |
|
|
rs776822979 CA4504791 |
454 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771333464 CA4504790 |
455 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1367296514 CA369371051 |
455 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA369371042 rs571570892 |
456 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746586700 CA4504789 |
456 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504788 rs571570892 |
456 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1485943385 CA369371037 |
457 | I>N | No |
ClinGen gnomAD |
|
|
CA369371040 rs1179096947 |
457 | I>V | No |
ClinGen gnomAD |
|
|
CA369371024 rs1203347496 |
459 | S>T | No |
ClinGen gnomAD |
|
|
rs757977216 CA4504787 |
460 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs112240850 CA167113522 |
462 | T>A | No |
ClinGen Ensembl |
|
|
CA4504786 rs368301208 |
462 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM745466 CA369370970 rs1344106831 |
467 | N>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1215678363 CA369370943 |
470 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1284339674 CA369370930 |
472 | K>N | No |
ClinGen gnomAD |
|
|
CA4504781 rs755992691 |
473 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000722993 CA369370896 rs1562996966 |
477 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751772576 CA4504780 |
479 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1405284896 CA369370863 |
482 | S>N | No |
ClinGen gnomAD |
|
|
CA369370859 rs1562996946 |
483 | V>I | No |
ClinGen Ensembl |
|
|
rs180980302 CA4504778 |
485 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4504776 rs765335787 |
486 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747474952 CA4504772 |
490 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243641432 CA369370373 |
495 | H>Y | No |
ClinGen gnomAD |
|
|
rs1382029819 CA369370362 |
496 | V>G | No |
ClinGen gnomAD |
|
|
CA369370358 rs1390643791 |
497 | M>T | No |
ClinGen TOPMed |
|
|
CA4504746 rs151212530 |
497 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369370297 rs1584914425 |
506 | D>A | No |
ClinGen Ensembl |
|
|
CA369370284 rs1356615439 |
508 | A>S | No |
ClinGen gnomAD |
|
|
CA4504742 rs148936107 |
510 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4504741 rs752903587 |
512 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1183599446 CA369370256 |
513 | Y>H | No |
ClinGen gnomAD |
|
|
CA369370247 rs1247923100 |
514 | F>V | No |
ClinGen gnomAD |
|
|
CA4504738 rs754000305 |
518 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4504737 rs773570757 |
519 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 519 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868841522 CA167108538 |
521 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 521 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767979718 CA369370195 |
522 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584914355 CA369370193 |
522 | I>T | No |
ClinGen Ensembl |
|
|
rs767979718 CA4504732 |
522 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457314576 CA369379899 |
525 | I>T | No |
ClinGen gnomAD |
|
|
CA4504707 rs764717102 |
526 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs759114660 CA4504706 |
527 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504705 rs776521583 |
528 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs746972170 CA4504703 |
529 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504704 rs770905239 |
529 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA369379859 rs1445192708 |
531 | N>K | No |
ClinGen gnomAD |
|
|
rs772991958 CA4504702 |
534 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 535 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4504701 rs771776708 |
538 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1673586 CA369379765 rs1276962394 |
544 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4504698 rs756228070 |
545 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369379764 rs756228070 |
545 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4504697 rs745991559 |
547 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778560567 CA167134091 |
548 | G>R | No |
ClinGen Ensembl |
|
|
rs757803112 CA4504695 |
550 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA369379716 rs1334164582 |
551 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 551 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915479851 CA167134088 |
552 | M>I | No |
ClinGen Ensembl |
|
|
CA4504694 rs752015489 |
553 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA369379679 VAR_066612 rs1026435 |
554 | F>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1174050319 CA369379672 |
555 | G>D | No |
ClinGen gnomAD |
|
|
CA167134047 rs369486474 |
559 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs759024783 CA4504689 |
561 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4504690 rs764911849 |
561 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167134011 rs961469487 |
562 | N>D | No |
ClinGen Ensembl |
|
| rs760603032 | 563 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4504688 rs753113224 |
563 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760603032 CA4504686 |
563 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167133981 rs369693858 |
564 | I>T | No |
ClinGen Ensembl |
|
|
CA167133216 rs753696784 |
566 | F>S | No |
ClinGen Ensembl |
|
|
COSM599440 rs1026320773 CA167133209 |
568 | R>G | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs774244498 CA4504666 |
568 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1021927890 CA167133204 |
570 | L>F | No |
ClinGen gnomAD |
|
|
rs541355719 CA167133199 |
571 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 573 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768580142 CA4504664 |
573 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA369379434 rs1416011626 |
576 | F>Y | No |
ClinGen gnomAD |
|
|
CA369379422 rs1175621428 |
578 | P>S | No |
ClinGen gnomAD |
|
|
CA369379415 rs1469803021 |
579 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs772411920 CA4504659 |
583 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 583 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369379357 rs1291390555 |
587 | F>L | No |
ClinGen gnomAD |
|
|
rs551737904 CA4504657 |
587 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753484445 CA4504655 |
593 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs779720368 CA4504654 |
594 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA167133139 rs1008127519 |
597 | K>R | No |
ClinGen TOPMed |
|
|
CA4504653 rs368553213 |
598 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 600 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751052544 CA167133101 |
601 | F>L | No |
ClinGen Ensembl |
|
|
rs1437101746 CA369379171 |
602 | D>H | No |
ClinGen gnomAD |
|
|
CA4504650 rs374330946 |
603 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4504651 rs374330946 |
603 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_066613 rs3807154 |
604 | H>Q | No |
UniProt dbSNP |
|
|
CA4504649 rs751558951 |
604 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1086029 rs776966607 CA4504646 |
605 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776966607 CA4504647 |
605 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760974203 CA4504644 |
609 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA167133066 rs1004521517 |
609 | A>V | No |
ClinGen Ensembl |
|
|
CA369379036 rs1181724593 |
610 | P>S | No |
ClinGen TOPMed |
|
|
rs773128017 CA4504643 |
611 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA369378986 rs1240870843 |
612 | I>N | No |
ClinGen gnomAD |
|
|
CA4504641 rs748638764 |
614 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA167133047 rs992847393 |
615 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774903056 CA4504640 |
615 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4504638 rs749701746 |
617 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755678100 CA4504636 |
619 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1346426633 CA369378863 |
619 | M>V | No |
ClinGen gnomAD |
|
|
rs1430044965 CA369378790 |
623 | N>H | No |
ClinGen gnomAD |
|
|
CA369378707 rs780506721 |
627 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs780506721 CA4504634 |
627 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA369378648 rs771998055 |
629 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs73730479 CA369378636 |
630 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4504629 rs370658535 |
631 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369378609 rs370658535 |
631 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1584907699 CA369378617 |
631 | P>S | No |
ClinGen Ensembl |
|
|
rs767489604 CA4504625 |
632 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774817040 CA4504623 |
632 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4504624 rs774817040 |
632 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1210114049 CA369378590 |
633 | Y>H | No |
ClinGen gnomAD |
|
|
rs749821651 CA4504621 |
636 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4504593 rs115222479 |
637 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350090837 CA369378166 |
639 | V>A | No |
ClinGen TOPMed |
|
|
rs763391413 CA4504592 |
640 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4504590 rs747671750 |
640 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4504591 rs368431454 |
640 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4504587 rs759989816 |
643 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1005804290 CA167130709 |
644 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776128921 CA4504586 |
647 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770659536 CA4504585 |
651 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504582 rs149289710 |
652 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 652 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149289710 CA4504583 |
652 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562987170 CA369378078 |
652 | P>S | No |
ClinGen Ensembl |
|
|
rs748029854 CA4504580 |
653 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA369378075 rs1266093701 |
653 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4504579 rs778947921 |
654 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778947921 RCV001302023 CA369378067 |
654 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1287994056 CA369378058 |
655 | L>F | No |
ClinGen gnomAD |
|
|
CA4504578 rs754706333 |
659 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA167130663 rs998295281 |
659 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 662 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779852735 CA4504576 |
663 | R>I | No |
ClinGen ExAC |
|
|
CA4504575 rs757399634 |
666 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751790951 CA4504574 |
666 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757399634 COSM3431284 CA167130637 |
666 | H>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759959455 CA369377982 |
667 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759959455 CA167130623 |
667 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM599441 rs150175783 CA4504573 |
667 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1372982088 COSM1699424 CA369377965 |
670 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 670 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763163513 CA4504572 |
670 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369377375 rs1373653638 |
672 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA369377369 rs1261538511 |
673 | A>T | No |
ClinGen gnomAD |
|
|
rs938489901 CA167126682 |
674 | S>F | No |
ClinGen Ensembl |
|
|
CA369377298 rs1458932935 |
679 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 683 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146288345 CA4504553 |
684 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4504552 rs765264771 |
686 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1374353167 CA369377226 |
686 | G>S | No |
ClinGen gnomAD |
|
|
rs1296151768 CA369377216 |
687 | D>N | No |
ClinGen gnomAD |
|
|
rs754412161 CA4504550 |
689 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs766838948 CA4504549 |
690 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1413599372 CA369377165 |
691 | P>L | No |
ClinGen gnomAD |
|
|
CA4504548 rs761160058 |
692 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs199650259 CA4504547 |
694 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4504546 rs761402968 |
694 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4504545 rs761402968 |
694 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504544 rs773840632 |
695 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 696 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324770636 CA369377061 |
702 | D>G | No |
ClinGen TOPMed |
|
|
CA369377043 rs1187068679 |
704 | H>N | No |
ClinGen gnomAD |
|
|
CA4504541 rs369596323 |
704 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4504538 rs780991800 |
706 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA369377011 rs1228429224 |
707 | L>P | No |
ClinGen gnomAD |
|
|
rs542919905 CA4504536 |
707 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1343646193 CA369377009 |
708 | D>N | No |
ClinGen gnomAD |
|
|
rs142451916 CA4504532 |
709 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142451916 CA4504533 |
709 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371213982 CA4504531 |
710 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369376984 rs1340756389 |
710 | H>Y | No |
ClinGen gnomAD |
|
|
rs1019716060 CA167126569 |
713 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 715 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs114055236 CA4504507 |
719 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369375877 rs998285099 |
722 | H>P | No |
ClinGen TOPMed |
|
|
CA167122155 rs998285099 |
722 | H>R | No |
ClinGen TOPMed |
|
|
CA4504505 rs374563625 |
724 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000722677 CA369375859 rs1562978360 |
725 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1005565506 CA167122141 |
726 | H>Y | No |
ClinGen TOPMed |
|
|
CA369375834 rs776491136 |
728 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770757215 CA4504503 |
729 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1230009724 CA369375833 |
729 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA369375819 rs371319351 |
730 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4504500 rs749525570 |
735 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749525570 CA4504499 |
735 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780225385 CA4504498 |
738 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1318697785 CA369375773 |
738 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 739 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369375757 rs1389674741 |
740 | S>F | No |
ClinGen gnomAD |
|
|
CA369375755 rs1284156471 |
741 | Y>H | No |
ClinGen TOPMed |
|
|
rs746368892 COSM1086028 CA4504496 |
743 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4504497 COSM3431283 rs770052600 |
743 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs560997882 CA4504495 |
744 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369375729 rs1192252525 |
745 | W>* | No |
ClinGen gnomAD |
|
|
rs201343486 CA167122075 |
747 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA369375719 rs201343486 |
747 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
RCV001347394 rs1804004086 |
752 | A>E | No |
ClinVar dbSNP |
|
|
CA369375687 rs1254323438 |
752 | A>T | No |
ClinGen gnomAD |
|
|
rs200003103 CA167116332 |
754 | L>R | No |
ClinGen 1000Genomes |
|
|
CA4504466 rs767415380 |
757 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA369375353 rs761738801 |
759 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs761738801 CA4504465 |
759 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA4504464 rs775830995 |
760 | T>I | No |
ClinGen ExAC |
|
|
CA4504463 rs765505477 |
761 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs888542204 CA167116301 |
763 | M>I | No |
ClinGen TOPMed |
|
|
CA4504462 rs759834814 |
763 | M>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 764 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4504461 rs200759459 |
765 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4504457 rs560499613 |
767 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772398809 CA4504456 |
768 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs991449515 CA167116215 |
770 | R>Q | No |
ClinGen TOPMed |
|
|
rs368910463 CA4504452 |
771 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866846998 CA167116185 |
777 | G>E | No |
ClinGen Ensembl |
|
|
rs767611310 CA4504448 COSM1086027 |
777 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757280281 CA4504447 |
778 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs200031399 CA4504446 |
779 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 779 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4504445 rs763986595 |
780 | I>F | No |
ClinGen ExAC |
|
|
rs575884895 CA4504443 |
783 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766370062 CA4504441 |
784 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369375056 rs766370062 |
784 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 788 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4504440 rs760853366 |
788 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4504439 rs773689858 |
791 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 791 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772521237 CA4504438 |
793 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1562974440 CA369374869 |
796 | M>I | No |
ClinGen Ensembl |
|
|
rs1383701222 CA369374881 |
796 | M>V | No |
ClinGen TOPMed |
|
|
rs1288053645 CA369374773 |
802 | F>C | No |
ClinGen gnomAD |
|
|
rs982168992 CA167116090 |
804 | H>Y | No |
ClinGen Ensembl |
|
|
COSM745467 CA4504434 rs369999617 |
805 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA369374672 rs1227606232 |
809 | H>R | No |
ClinGen TOPMed |
|
|
rs1279204387 CA369374036 |
811 | V>A | No |
ClinGen TOPMed |
|
|
CA369374043 rs1584879813 |
811 | V>I | No |
ClinGen Ensembl |
|
|
CA369374003 rs1254437634 |
815 | N>D | No |
ClinGen gnomAD |
|
|
rs1584879787 CA369373918 |
821 | D>G | No |
ClinGen Ensembl |
|
|
rs756268451 CA4504407 |
822 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs190782161 CA4504406 |
823 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369373890 rs1296316551 |
824 | K>Q | No |
ClinGen gnomAD |
|
|
CA369373838 rs1562971981 |
828 | F>L | No |
ClinGen Ensembl |
|
|
CA369373822 rs752038920 |
829 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4504403 rs752038920 |
829 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA167113309 rs773756702 |
832 | H>R | No |
ClinGen Ensembl |
|
|
CA369373744 rs1395271788 |
833 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs970115299 CA167113306 |
836 | G>D | No |
ClinGen Ensembl |
|
|
CA167113303 rs377442551 |
837 | T>I | No |
ClinGen ESP |
|
|
rs763400668 CA4504399 |
839 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374305455 CA4504400 |
839 | E>K | No |
ClinGen ESP TOPMed gnomAD |
No associated diseases with Q9HBG4
7 regional properties for Q9HBG4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| active_site | Cysteine peptidase, cysteine active site | 91 - 102 | IPR000169 |
| domain | Peptidase C2, calpain, catalytic domain | 24 - 345 | IPR001300 |
| domain | EF-hand domain | 565 - 626 | IPR002048 |
| binding_site | EF-Hand 1, calcium-binding site | 604 - 616 | IPR018247 |
| domain | Peptidase C2, calpain, large subunit, domain III | 354 - 486 | IPR022682 |
| domain | Peptidase C2, calpain, domain III | 348 - 494 | IPR022683 |
| domain | Calpain subdomain III | 347 - 496 | IPR033883 |
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| brush border membrane | The portion of the plasma membrane surrounding the brush border. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of membrane | The component of a 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| proton-transporting V-type ATPase complex | A proton-transporting two-sector ATPase complex that couples ATP hydrolysis to the transport of protons across a concentration gradient. The resulting transmembrane electrochemical potential of H+ is used to drive a variety of (i) secondary active transport systems via H+-dependent symporters and antiporters and (ii) channel-mediated transport systems. The complex comprises a membrane sector (V0) that carries out proton transport and a cytoplasmic compartment sector (V1) that catalyzes ATP hydrolysis. V-type ATPases are found in the membranes of organelles such as vacuoles, endosomes, and lysosomes, and in the plasma membrane. |
| vacuolar proton-transporting V-type ATPase complex | A proton-transporting two-sector ATPase complex found in the vacuolar membrane, where it acts as a proton pump to mediate acidification of the vacuolar lumen. |
| vacuolar proton-transporting V-type ATPase, V0 domain | The V0 domain of a proton-transporting V-type ATPase found in the vacuolar membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| proton-transporting ATPase activity, rotational mechanism | Enables the transfer of protons from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) = ADP + phosphate + H+(out), by a rotational mechanism. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular pH reduction | Any process that reduces the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of pH | Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. |
| renal tubular secretion | The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| vacuolar acidification | Any process that reduces the pH of the vacuole, measured by the concentration of the hydrogen ion. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32563 | VPH1 | V-type proton ATPase subunit a, vacuolar isoform | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q29466 | ATP6V0A1 | V-type proton ATPase 116 kDa subunit a 1 | Bos taurus (Bovine) | PR |
| O97681 | ATP6V0A2 | V-type proton ATPase 116 kDa subunit a 2 | Bos taurus (Bovine) | PR |
| Q9I8D0 | ATP6V0A1 | V-type proton ATPase 116 kDa subunit a 1 | Gallus gallus (Chicken) | PR |
| Q9Y487 | ATP6V0A2 | V-type proton ATPase 116 kDa subunit a 2 | Homo sapiens (Human) | PR |
| Q13488 | TCIRG1 | V-type proton ATPase 116 kDa subunit a 3 | Homo sapiens (Human) | PR |
| Q93050 | ATP6V0A1 | V-type proton ATPase 116 kDa subunit a 1 | Homo sapiens (Human) | PR |
| P15920 | Atp6v0a2 | V-type proton ATPase 116 kDa subunit a 2 | Mus musculus (Mouse) | PR |
| Q9Z1G4 | Atp6v0a1 | V-type proton ATPase 116 kDa subunit a 1 | Mus musculus (Mouse) | PR |
| Q920R6 | Atp6v0a4 | V-type proton ATPase 116 kDa subunit a 4 | Mus musculus (Mouse) | PR |
| P25286 | Atp6v0a1 | V-type proton ATPase 116 kDa subunit a 1 | Rattus norvegicus (Rat) | PR |
| P30628 | unc-32 | V-type proton ATPase 116 kDa subunit a 1 | Caenorhabditis elegans | PR |
| Q8RWZ7 | VHA-a1 | V-type proton ATPase subunit a1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4S4 | VHA-a3 | V-type proton ATPase subunit a3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJT7 | VHA-a2 | V-type proton ATPase subunit a2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A1A5G6 | atp6v0a1 | V-type proton ATPase 116 kDa subunit a 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVSVFRSEEM | CLSQLFLQVE | AAYCCVAELG | ELGLVQFKDL | NMNVNSFQRK | FVNEVRRCES |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LERILRFLED | EMQNEIVVQL | LEKSPLTPLP | REMITLETVL | EKLEGELQEA | NQNQQALKQS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLELTELKYL | LKKTQDFFET | ETNLADDFFT | EDTSGLLELK | AVPAYMTGKL | GFIAGVINRE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RMASFERLLW | RICRGNVYLK | FSEMDAPLED | PVTKEEIQKN | IFIIFYQGEQ | LRQKIKKICD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GFRATVYPCP | EPAVERREML | ESVNVRLEDL | ITVITQTESH | RQRLLQEAAA | NWHSWLIKVQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KMKAVYHILN | MCNIDVTQQC | VIAEIWFPVA | DATRIKRALE | QGMELSGSSM | APIMTTVQSK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TAPPTFNRTN | KFTAGFQNIV | DAYGVGSYRE | INPAPYTIIT | FPFLFAVMFG | DCGHGTVMLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AALWMILNER | RLLSQKTDNE | IWNTFFHGRY | LILLMGIFSI | YTGLIYNDCF | SKSLNIFGSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| WSVQPMFRNG | TWNTHVMEES | LYLQLDPAIP | GVYFGNPYPF | GIDPIWNLAS | NKLTFLNSYK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MKMSVILGIV | QMVFGVILSL | FNHIYFRRTL | NIILQFIPEM | IFILCLFGYL | VFMIIFKWCC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FDVHVSQHAP | SILIHFINMF | LFNYSDSSNA | PLYKHQQEVQ | SFFVVMALIS | VPWMLLIKPF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ILRASHRKSQ | LQASRIQEDA | TENIEGDSSS | PSSRSGQRTS | ADTHGALDDH | GEEFNFGDVF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VHQAIHTIEY | CLGCISNTAS | YLRLWALSLA | HAQLSEVLWT | MVMNSGLQTR | GWGGIVGVFI |
| 790 | 800 | 810 | 820 | 830 | |
| IFAVFAVLTV | AILLIMEGLS | AFLHALRLHW | VEFQNKFYVG | DGYKFSPFSF | KHILDGTAEE |