Q9NPD5
PR
Gene name |
SLCO1B3 (LST2, OATP1B3, OATP8, SLC21A8) |
Protein name |
Solute carrier organic anion transporter family member 1B3 |
Names |
Liver-specific organic anion transporter 2, LST-2, OATP1B3, Organic anion transporter 8, Organic anion-transporting polypeptide 8, OATP-8, Solute carrier family 21 member 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:28234 |
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 Q9NPD5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8PG0 | EM | 297 A | A | 1-702 | PDB |
| AF-Q9NPD5-F1 | Predicted | AlphaFoldDB |
731 variants for Q9NPD5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs61612406 CA6475026 RCV000419546 RCV001803696 |
4 | H>R | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6475028 rs200793002 RCV001113022 |
9 | K>T | Variant assessed as Somatic; 0.0 impact. Rotor syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000906015 RCV000318161 CA6475066 rs79042365 |
36 | F>L | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1865106191 RCV001113025 TCGA novel |
49 | K>N | Variant assessed as Somatic; impact. Rotor syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs761530247 CA6475075 RCV001113026 |
50 | I>V | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs57325543 RCV000421123 CA6475077 RCV001803697 |
52 | I>V | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
CA6475084 RCV001113027 rs778668812 |
59 | F>S | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748195197 RCV000778357 |
68 | L>missing | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000988797 rs558592800 RCV000883983 |
70 | D>missing | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144099822 CA6475123 RCV001284874 |
92 | H>R | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778358 rs1565591652 |
97 | I>missing | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000245173 VAR_024645 RCV001709553 RCV000356421 rs4149117 CA6475135 |
112 | S>A | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000927538 rs145334570 RCV000259250 CA6475136 |
112 | S>Y | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150039066 RCV001000624 CA6475166 RCV001114405 |
135 | S>L | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002519863 RCV000378489 RCV000239345 rs369529563 CA6475169 |
138 | S>I | Rotor syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000779094 rs764867994 |
145 | N>missing | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6475172 rs146623116 RCV001114406 |
145 | N>S | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000286680 RCV000947440 rs57585902 CA6475174 |
147 | T>A | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748685876 CA6475184 RCV000320638 |
157 | I>M | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000756666 CA6475225 RCV001110375 rs140353351 |
162 | C>G | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10641506 RCV000377542 rs886049134 |
173 | Y>C | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6475233 COSM1177090 rs746941097 RCV001110376 |
181 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium Rotor syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000890741 CA6475234 RCV000290108 rs180875376 |
181 | R>H | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs775442032 CA6475237 RCV001110377 |
186 | T>N | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6475238 RCV001289726 rs368572652 |
187 | P>R | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6475249 rs368649517 RCV000347598 |
198 | D>N | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142673817 CA6475285 RCV001111116 |
215 | I>M | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs115227445 CA6475290 RCV000289150 |
226 | L>V | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6475293 rs760497665 RCV001287540 |
228 | S>Y | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_053672 RCV001651237 RCV000253120 rs7311358 CA6475298 RCV000351083 |
233 | M>I | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001111117 CA6475301 rs747595430 |
238 | G>R | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1361523872 RCV001113109 |
244 | T>S | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001113110 COSM136052 CA6475339 rs767676951 |
253 | R>C | Variant assessed as Somatic; 0.0 impact. skin Rotor syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001113111 CA6475340 rs745538500 |
253 | R>H | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6475347 VAR_062150 RCV000368578 rs60140950 |
256 | G>A | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1449152778 RCV001113113 CA384093297 |
268 | F>C | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs554933268 RCV000402803 |
285 | K>missing | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6475414 RCV001113114 rs775841876 |
325 | F>I | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769005039 RCV000779096 |
326 | F>missing | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000297252 CA6475417 rs146780296 |
330 | K>E | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886049136 CA10636992 RCV000356734 |
335 | N>S | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001114497 rs374932005 CA6475489 |
406 | G>E | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000321755 CA6475499 rs146940490 |
414 | T>I | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61673910 CA6475521 RCV001286075 |
437 | G>S | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61736817 CA6475549 RCV000382072 |
456 | L>F | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886049137 CA10641513 RCV000287450 |
478 | G>R | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001289695 rs751785190 CA6475623 |
533 | K>R | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001803208 rs150998576 CA6475624 |
537 | Y>C | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001802587 rs78627909 |
546 | L>missing | Rotor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001111210 VAR_053673 RCV000896565 rs12299012 CA6475647 |
560 | V>A | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001111211 CA6475678 rs779952599 |
581 | T>A | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6475726 rs202234562 RCV000280116 |
619 | V>I | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10636996 RCV000341210 rs758003128 |
664 | K>N | Rotor syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763219424 CA6475024 |
2 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs768665889 CA6475025 |
3 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1397026289 CA384092688 |
5 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6475027 rs762336646 |
6 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384092729 rs1391998125 |
7 | L>F | No |
ClinGen TOPMed |
|
|
rs750802420 CA6475029 |
10 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA384092801 rs760883363 |
11 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA384092785 rs1170642394 |
11 | A>T | No |
ClinGen gnomAD |
|
|
CA6475030 rs760883363 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 12 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766761846 CA6475031 |
13 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1394207979 CA384092838 |
14 | A>S | No |
ClinGen gnomAD |
|
|
rs376673811 TCGA novel CA233480426 |
17 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
| TCGA novel | 19 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591738719 CA384092924 |
19 | K>M | No |
ClinGen Ensembl |
|
|
rs868407434 CA233480440 |
21 | T>K | No |
ClinGen Ensembl |
|
|
COSM1226618 rs369736559 CA6475037 |
23 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6475038 rs781205713 |
23 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1343649722 CA384093008 |
24 | C>Y | No |
ClinGen TOPMed |
|
|
CA384093029 rs1316747343 |
25 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6475040 rs377570761 |
27 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484454780 CA384093056 |
27 | F>L | No |
ClinGen gnomAD |
|
|
rs779872655 CA6475041 |
28 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA233480492 rs563634489 |
28 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6475042 rs563634489 |
28 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384097656 rs1344147528 |
29 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1225928922 CA384097668 |
30 | F>S | No |
ClinGen gnomAD |
|
|
CA384097672 rs1182957693 |
31 | L>M | No |
ClinGen TOPMed |
|
|
rs534630821 CA233514903 |
33 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs748366885 CA6475065 |
34 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773321155 CA6475067 |
37 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214113364 CA384097718 |
38 | Y>C | No |
ClinGen TOPMed |
|
|
rs1222230674 CA384097727 |
39 | I>T | No |
ClinGen gnomAD |
|
|
CA6475068 rs747514619 |
40 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384097735 rs1267981710 |
41 | K>E | No |
ClinGen gnomAD |
|
|
rs11045565 CA384097749 |
43 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM326504 CA384097753 rs1408642500 |
44 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA384097755 rs1408642500 |
44 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759889843 CA6475071 |
46 | I>F | No |
ClinGen ExAC TOPMed |
|
|
CA384097765 rs759889843 |
46 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs765688756 CA6475073 |
46 | I>M | No |
ClinGen ExAC |
|
| TCGA novel | 48 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475074 rs774202726 |
48 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6475076 rs767172087 |
51 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384097806 rs1591762856 |
52 | I>N | No |
ClinGen Ensembl |
|
|
rs749907490 CA6475079 |
54 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6475082 rs374761449 |
55 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773836341 CA233514991 |
55 | I>T | No |
ClinGen Ensembl |
|
|
CA6475081 rs766279496 |
55 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455125931 CA384097860 |
56 | E>G | No |
ClinGen TOPMed |
|
|
CA384097872 rs1471304505 COSM1705274 |
57 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1221969813 CA384097906 |
60 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384097909 rs1221969813 |
60 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs190960788 CA6475085 |
61 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1449594756 CA384097930 |
61 | I>M | No |
ClinGen gnomAD |
|
|
rs190960788 CA233515010 |
61 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424569586 CA384097941 |
62 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6475086 rs543120401 |
63 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384097945 rs543120401 |
63 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs151295214 CA6475087 |
64 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384097956 rs1185044091 |
64 | S>Y | No |
ClinGen TOPMed |
|
|
rs1287266268 CA384097993 |
67 | G>V | No |
ClinGen TOPMed |
|
|
rs374641951 CA233515063 |
70 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1383018957 CA384098046 |
71 | G>E | No |
ClinGen gnomAD |
|
|
CA6475091 rs368817817 |
71 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777132805 CA6475092 |
72 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384098065 rs1007686555 |
72 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384098059 rs1392857786 |
72 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1354436053 CA384098106 |
75 | I>T | No |
ClinGen gnomAD |
|
|
rs368091191 CA6475115 |
76 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475116 rs749607240 |
77 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1436613909 CA384098749 |
78 | L>F | No |
ClinGen TOPMed |
|
|
CA6475117 rs771625535 |
78 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs772983554 CA6475118 |
80 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6475119 rs760232101 |
84 | V>L | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs770524098 CA6475120 |
85 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA6475121 rs776089217 |
88 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1202126191 CA384098873 |
88 | G>V | No |
ClinGen gnomAD |
|
|
rs1469782075 CA384098911 |
91 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA233517503 rs993255777 |
93 | R>S | No |
ClinGen Ensembl |
|
|
CA6475124 rs371512520 |
94 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439802271 CA384098972 |
96 | L>* | No |
ClinGen TOPMed |
|
|
CA233517525 rs982213385 |
97 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763796201 CA6475126 |
97 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6475127 rs751852878 |
98 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6475129 rs558865397 |
101 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6475130 rs750478948 |
105 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs150007972 CA6475131 |
106 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs544431416 CA384099179 |
110 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769123182 CA6475134 |
111 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384099193 rs4149117 |
112 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480331921 CA384099220 |
114 | P>S | No |
ClinGen gnomAD |
|
|
CA384099231 rs1366072312 |
115 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1565591711 CA384099300 |
119 | G>E | No |
ClinGen Ensembl |
|
|
CA384099293 rs1348113154 |
119 | G>R | No |
ClinGen TOPMed |
|
|
rs769732111 CA6475141 |
120 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1315294246 CA384099747 |
121 | Y>S | No |
ClinGen gnomAD |
|
|
rs1320813597 CA384099752 |
122 | R>G | No |
ClinGen gnomAD |
|
|
CA384099764 COSM1237204 rs1451190455 |
123 | Y>F | parathyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA384099781 rs1289868519 |
126 | E>K | No |
ClinGen TOPMed |
|
|
CA384099793 rs1248618790 |
127 | T>S | No |
ClinGen TOPMed |
|
|
CA384099798 rs1195693017 |
128 | H>R | No |
ClinGen gnomAD |
|
|
CA233519103 rs868695861 |
131 | P>L | No |
ClinGen Ensembl |
|
|
CA6475165 rs374152690 |
131 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA384099826 rs1213285541 |
132 | S>* | No |
ClinGen TOPMed |
|
|
CA233519107 COSM1705277 rs369609436 |
133 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA384099849 rs1242722316 |
136 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384099867 rs1462306579 |
139 | L>I | No |
ClinGen gnomAD |
|
|
CA6475170 rs760957484 |
141 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1398097786 CA384099883 |
141 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs993057194 CA233519131 |
142 | C>Y | No |
ClinGen Ensembl |
|
|
rs146623116 CA6475173 |
145 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1377961961 CA384099916 |
146 | Q>R | No |
ClinGen gnomAD |
|
|
CA384099920 rs57585902 |
147 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6475177 rs765608118 |
149 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032171661 CA233519147 |
149 | S>P | No |
ClinGen TOPMed |
|
|
rs77922474 CA6475179 |
151 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384099956 rs1262532945 |
152 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745556617 CA6475182 |
156 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1428882606 CA384099979 |
156 | E>D | No |
ClinGen gnomAD |
|
|
CA6475181 rs745556617 |
156 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1188434612 CA384099975 |
156 | E>K | No |
ClinGen gnomAD |
|
|
rs779559994 CA6475183 |
157 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475185 rs768642442 |
158 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177098418 CA384099995 |
159 | E>G | No |
ClinGen gnomAD |
|
|
rs1309712016 CA384099991 |
159 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384100000 rs1358033714 |
160 | K>E | No |
ClinGen gnomAD |
|
|
rs778780143 CA6475186 |
161 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 161 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565593296 CA384091351 |
162 | C>Y | No |
ClinGen Ensembl |
|
|
CA384091362 rs754627543 |
163 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs754627543 CA6475226 |
163 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA384091419 rs1348625736 |
167 | G>E | No |
ClinGen gnomAD |
|
|
CA384091413 rs1323357102 |
167 | G>R | No |
ClinGen gnomAD |
|
|
rs1173858720 CA384091426 |
168 | S>A | No |
ClinGen TOPMed |
|
|
rs1565593320 CA384091447 |
169 | H>Q | No |
ClinGen Ensembl |
|
|
CA6475227 rs764685801 |
169 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752206814 COSM3748553 CA6475229 |
170 | M>V | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1240024616 CA384091481 |
171 | W>* | No |
ClinGen TOPMed |
|
|
CA384091475 rs1435941743 |
171 | W>* | No |
ClinGen TOPMed |
|
|
rs1200591138 CA384091548 |
176 | M>V | No |
ClinGen TOPMed |
|
|
CA384091589 rs1262714734 |
178 | N>S | No |
ClinGen TOPMed |
|
|
CA6475231 rs777788484 CA384091606 |
179 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6475230 rs758425216 |
179 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384091604 rs758425216 |
179 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233479350 rs555561597 |
180 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs746941097 CA6475232 |
181 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs180875376 CA384091626 |
181 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs966952624 CA233479371 |
182 | G>D | No |
ClinGen TOPMed |
|
|
rs770005051 CA6475236 |
184 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6475235 rs374117010 |
184 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766508014 CA6475240 |
188 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475239 rs768715673 |
188 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762283520 CA6475241 |
189 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs148029725 CA384091776 |
194 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475245 rs148029725 |
194 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 195 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264277506 CA384091785 |
195 | Y>N | No |
ClinGen gnomAD |
|
|
rs199849487 CA6475246 |
195 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147555114 CA384091797 |
196 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141703938 CA6475248 |
196 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147555114 CA6475247 |
196 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA233479405 rs974786731 |
197 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 197 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475250 rs751600260 |
198 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384091848 rs757192493 CA6475251 |
199 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6475252 rs780868097 |
200 | A>T | No |
ClinGen ExAC |
|
| rs779363741 | 202 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475256 rs780319483 |
203 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1186350111 CA384091914 |
204 | H>R | No |
ClinGen gnomAD |
|
|
rs1235403390 CA384091930 |
205 | S>Y | No |
ClinGen gnomAD |
|
|
rs1477158813 CA384091949 |
207 | L>* | No |
ClinGen gnomAD |
|
|
CA6475260 rs768771131 |
207 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233479473 rs907711052 |
208 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 208 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384091978 rs1159050294 |
209 | L>S | No |
ClinGen TOPMed |
|
|
rs1268664440 CA384092050 |
211 | S>G | No |
ClinGen gnomAD |
|
|
rs772462864 CA6475282 |
211 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA384092058 rs1197388484 |
211 | S>R | No |
ClinGen gnomAD |
|
|
rs923517038 CA233479605 |
213 | N>S | No |
ClinGen gnomAD |
|
|
CA6475284 rs747459855 |
215 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6475286 rs375847286 |
216 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762729525 CA6475287 |
218 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs768361956 CA6475288 |
220 | P>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1705279 CA384092174 rs1423441745 |
220 | P>L | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs966280728 CA233479619 |
221 | V>A | No |
ClinGen TOPMed |
|
|
rs1050997688 CA233479613 |
221 | V>I | No |
ClinGen gnomAD |
|
|
CA233479634 rs942086296 |
226 | L>P | No |
ClinGen Ensembl |
|
|
COSM1705280 rs750422279 CA6475292 |
227 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1238161424 CA384092245 |
227 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753580891 CA6475295 |
229 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565593632 CA384092265 |
230 | F>S | No |
ClinGen Ensembl |
|
|
rs755207229 CA6475296 |
232 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779041069 CA6475297 |
233 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374015229 CA6475300 |
234 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013531945 CA384092297 |
235 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1013531945 CA233479674 |
235 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA384092315 rs1446729548 |
237 | I>M | No |
ClinGen gnomAD |
|
|
rs1046420357 CA384092319 |
238 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA233479677 rs1046420357 |
238 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA384092322 rs1457241241 |
239 | Y>D | No |
ClinGen gnomAD |
|
|
CA6475302 rs771528335 |
240 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6475305 rs746163941 |
241 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781710106 CA384092333 |
241 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs781710106 CA6475303 |
241 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6475304 rs746163941 |
241 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384093146 rs933463488 |
243 | S>I | No |
ClinGen TOPMed |
|
|
CA233487617 rs933463488 |
243 | S>N | No |
ClinGen TOPMed |
|
|
rs774107510 CA6475306 |
243 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1361523872 CA384093154 |
244 | T>I | No |
ClinGen gnomAD |
|
|
CA233487628 rs149427388 |
246 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA384093163 rs1329657459 |
246 | R>K | No |
ClinGen TOPMed |
|
|
CA6475335 rs764151105 |
247 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219876531 CA384093173 |
247 | I>M | No |
ClinGen gnomAD |
|
|
rs751797492 CA6475336 |
248 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384093180 rs904458330 |
249 | P>A | No |
ClinGen gnomAD |
|
|
CA384093183 rs1179028937 |
249 | P>L | No |
ClinGen TOPMed |
|
|
CA233487640 rs904458330 |
249 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6475337 rs757482086 |
250 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354121078 COSM937868 CA384093203 |
252 | S>F | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs745538500 CA6475341 COSM415923 |
253 | R>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6475344 rs758082554 |
254 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475343 rs749549593 |
254 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs746659786 CA6475346 |
255 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475345 rs777348477 |
255 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233487725 rs1038369572 |
256 | G>R | No |
ClinGen TOPMed |
|
|
rs776095053 CA6475348 |
257 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1419481347 CA384093236 |
258 | W>C | No |
ClinGen gnomAD |
|
|
CA384093245 rs1157293455 |
259 | W>C | No |
ClinGen gnomAD |
|
|
CA6475349 rs745824602 |
260 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA384093254 rs1565598108 |
261 | G>A | No |
ClinGen Ensembl |
|
|
CA233487795 rs538533710 |
261 | G>S | No |
ClinGen Ensembl |
|
|
CA384093264 rs1442936517 |
263 | L>F | No |
ClinGen gnomAD |
|
|
CA384093272 rs1300148350 |
264 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1591774656 CA384093285 |
266 | G>A | No |
ClinGen Ensembl |
|
|
rs769575516 CA6475351 |
267 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1373996433 CA384093307 |
270 | I>V | No |
ClinGen TOPMed |
|
|
rs1310221335 CA384093319 |
271 | I>M | No |
ClinGen gnomAD |
|
|
rs1391018422 CA384093332 |
274 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs964731087 CA233487823 |
276 | F>L | No |
ClinGen Ensembl |
|
| rs751405974 | 278 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565598141 CA384093364 |
278 | F>S | No |
ClinGen Ensembl |
|
| rs751405974 | 280 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281808593 CA384093380 |
280 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1281808593 CA384093378 |
280 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6475358 rs762106680 |
283 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA233487867 rs1014022478 |
284 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767730020 CA6475360 |
286 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767730020 CA384093418 |
286 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384093441 COSM277353 rs1182436260 |
289 | E>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 289 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 290 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475363 rs142873062 |
291 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200068079 CA6475362 |
291 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| VAR_036410 | 292 | I>M | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA6475364 rs766738737 |
296 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384093484 rs1416360730 |
296 | L>M | No |
ClinGen gnomAD |
|
|
rs754356216 CA6475365 |
297 | H>R | No |
ClinGen ExAC |
|
|
CA6475366 rs755365122 |
298 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751260776 CA6475368 |
299 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779304579 CA6475367 |
299 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6475369 rs756852295 |
301 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1291023554 CA384093523 |
302 | N>T | No |
ClinGen TOPMed |
|
|
CA6475371 rs780708027 |
304 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233487921 rs1027879448 |
304 | D>H | No |
ClinGen Ensembl |
|
|
CA6475370 rs780708027 |
304 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384093548 rs1381003869 |
306 | N>D | No |
ClinGen gnomAD |
|
|
CA384093550 rs1565598216 |
306 | N>S | No |
ClinGen Ensembl |
|
|
rs1565598222 CA384093567 |
308 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 309 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233487931 rs933769093 |
309 | A>T | No |
ClinGen TOPMed |
|
|
rs1396779669 CA384093584 |
311 | L>S | No |
ClinGen TOPMed |
|
|
CA6475374 rs371298832 |
312 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774984457 CA6475375 |
315 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6475377 rs768387734 |
316 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6475379 rs146565174 |
317 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320622905 CA384093625 |
317 | N>K | No |
ClinGen gnomAD |
|
| rs755946165 | 317 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475380 rs772355903 |
317 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6475381 TCGA novel rs773440798 |
319 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs916670665 CA233488026 |
320 | K>R | No |
ClinGen Ensembl |
|
|
CA384093649 rs760723958 |
321 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475385 rs766475606 |
321 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6475384 rs760723958 |
321 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416310151 CA384093665 |
324 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769005039 | 326 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345116079 CA384093696 |
327 | Q>* | No |
ClinGen gnomAD |
|
|
CA6475416 rs764415236 |
328 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384093723 rs1217855234 |
331 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA384093727 rs1263090031 |
331 | S>N | No |
ClinGen gnomAD |
|
|
rs755746830 CA6475418 |
331 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1201658409 CA384093731 |
332 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs944337767 CA233489842 |
332 | I>M | No |
ClinGen TOPMed |
|
|
rs1201658409 CA384093730 |
332 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765840736 CA6475419 |
333 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765840736 CA6475420 |
333 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475422 rs779052779 |
334 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA384093742 rs1463281794 |
334 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6475423 rs779052779 |
334 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758308277 CA6475424 |
335 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777688375 CA6475425 |
336 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1383987667 CA384093762 |
337 | L>P | No |
ClinGen gnomAD |
|
|
CA384093774 rs1325479491 |
338 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs771143376 CA6475427 |
340 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384093791 rs1271562297 |
340 | I>V | No |
ClinGen TOPMed |
|
|
rs1435186168 CA384093803 |
341 | F>L | No |
ClinGen gnomAD |
|
|
CA384093814 rs1287238466 |
342 | L>M | No |
ClinGen TOPMed |
|
|
rs1591776244 CA384093857 |
345 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 345 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769846642 CA6475430 |
346 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1215185490 CA384093868 |
346 | L>S | No |
ClinGen TOPMed |
|
|
rs776021373 CA6475431 |
347 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA384093888 rs1291285729 |
348 | Q>E | No |
ClinGen gnomAD |
|
|
rs1191902911 CA384093894 |
348 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384093889 rs1451078373 |
348 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6475432 rs763431961 |
349 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384093908 rs1431497297 |
350 | S>C | No |
ClinGen TOPMed |
|
|
CA6475433 rs764468156 |
350 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774739984 CA6475434 |
352 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475435 rs760250617 |
352 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6475436 rs766000544 |
353 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384093953 rs1321783501 |
354 | G>R | No |
ClinGen TOPMed |
|
|
CA384093979 rs1164901136 |
356 | F>C | No |
ClinGen gnomAD |
|
|
rs748726828 CA6475438 |
358 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233489930 rs145036538 |
358 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764808205 CA6475440 COSM299515 |
359 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384094058 rs1475724771 |
363 | M>V | No |
ClinGen gnomAD |
|
|
rs865852863 CA233489966 |
364 | E>K | No |
ClinGen Ensembl |
|
|
rs758361118 CA6475444 |
367 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370237473 CA6475447 |
368 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370237473 CA6475446 COSM1705285 |
368 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1196599334 CA384094135 |
369 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 371 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982014666 CA384094185 |
373 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs982014666 CA233489980 |
373 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6475449 rs746069778 |
373 | H>Y | No |
ClinGen ExAC |
|
|
CA233490001 rs1053663074 |
375 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384094207 rs1417046927 |
375 | N>T | No |
ClinGen gnomAD |
|
|
rs1236730043 CA384094215 |
376 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 377 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202070259 CA233491168 |
379 | G>E | No |
ClinGen 1000Genomes |
|
| TCGA novel | 380 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314055584 CA384094364 |
382 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759291062 CA6475477 |
382 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs372972480 CA6475478 |
383 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384094377 rs1346847778 |
384 | P>L | No |
ClinGen gnomAD |
|
|
CA6475479 rs145877520 |
384 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138702607 CA6475480 |
385 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191984017 CA384094389 |
387 | A>S | No |
ClinGen TOPMed |
|
|
CA384094395 rs1426436771 |
388 | T>P | No |
ClinGen TOPMed |
|
|
rs1488543817 CA384094401 |
389 | G>R | No |
ClinGen gnomAD |
|
|
rs1209057636 CA384094410 |
390 | M>K | No |
ClinGen TOPMed |
|
|
rs750153920 CA6475485 |
396 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1160880932 CA384094485 |
400 | F>C | No |
ClinGen gnomAD |
|
|
rs924770778 CA233491228 |
402 | L>S | No |
ClinGen gnomAD |
|
|
CA384094528 rs1217866499 |
403 | S>F | No |
ClinGen gnomAD |
|
|
rs780313590 CA6475488 |
405 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475492 rs755125439 |
409 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475493 rs778837188 |
411 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs748711438 CA6475495 |
412 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475496 rs758791140 |
412 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs577433244 CA6475498 |
413 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6475497 rs577433244 |
413 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1214924822 CA384094644 |
414 | T>A | No |
ClinGen gnomAD |
|
|
CA6475500 rs146940490 |
414 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6475501 rs369045586 |
415 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM937872 rs369045586 CA6475502 |
415 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1266094 CA384094669 rs1251969554 |
416 | M>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA384094665 rs1407611156 |
416 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761817241 CA6475504 |
417 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs137901490 CA6475505 |
418 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384094696 rs1418913402 |
419 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1453520543 CA384094715 |
420 | L>F | No |
ClinGen TOPMed |
|
|
rs201866779 CA6475507 |
420 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766131954 CA6475508 |
421 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384094739 rs754110095 CA384094741 |
422 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 422 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325238570 CA384094745 |
423 | L>F | No |
ClinGen gnomAD |
|
|
CA6475512 rs765389916 |
425 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290668424 CA384094764 |
425 | Y>H | No |
ClinGen TOPMed |
|
|
rs1442255172 CA384094784 |
426 | F>L | No |
ClinGen gnomAD |
|
|
CA384094808 rs1223040541 |
429 | I>F | No |
ClinGen gnomAD |
|
|
CA6475514 rs376788743 |
430 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384094817 rs1304777961 |
430 | C>R | No |
ClinGen gnomAD |
|
|
rs376788743 CA6475513 |
430 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141602442 CA6475516 COSM937873 |
431 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs868380573 COSM224422 CA233491377 |
434 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs781670225 CA6475519 |
435 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs373665461 CA384094949 |
435 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781670225 CA6475518 |
435 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs373665461 CA6475517 |
435 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs189943255 RCV001001859 CA6475522 |
438 | L>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA384094970 rs1328777441 |
439 | T>S | No |
ClinGen TOPMed |
|
|
rs1164874322 CA384094990 |
442 | Y>C | No |
ClinGen gnomAD |
|
|
rs771567653 CA6475523 |
443 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233491409 rs1012647925 |
443 | D>N | No |
ClinGen Ensembl |
|
|
rs773176181 CA6475525 |
444 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384095003 rs773176181 |
444 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773176181 CA384095002 |
444 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212389668 CA384095021 |
445 | N>S | No |
ClinGen gnomAD |
|
|
rs1341183546 CA384095038 |
448 | V>M | No |
ClinGen TOPMed |
|
|
CA6475545 rs770786729 |
449 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs889122335 CA384095053 |
450 | S>C | No |
ClinGen TOPMed |
|
|
rs889122335 CA233492343 |
450 | S>F | No |
ClinGen TOPMed |
|
|
rs1292889922 CA384095056 |
451 | H>Y | No |
ClinGen TOPMed |
|
|
rs1565600512 CA384095062 |
452 | V>I | No |
ClinGen Ensembl |
|
|
rs1565600521 CA384095083 COSM430876 |
455 | P>A | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6475547 rs759306295 |
455 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs140093214 CA6475551 |
458 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140093214 CA233492397 |
458 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384095109 rs1395992970 |
459 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs751626701 CA6475553 |
459 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA384095111 rs762425576 |
460 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6475554 rs762425576 |
460 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs898973673 CA233492424 |
460 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768200691 CA6475555 |
461 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs993316831 CA384095123 |
462 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs750939881 CA6475556 |
462 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs993316831 CA233492434 |
462 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA384095132 rs1222768689 |
463 | C>F | No |
ClinGen TOPMed |
|
|
rs756476255 CA384095128 |
463 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756476255 CA6475557 |
463 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475558 rs780443920 |
464 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA686404407 rs1482486549 |
465 | C>* | No |
ClinGen TOPMed |
|
| TCGA novel | 466 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233492450 rs774420889 |
467 | E>K | No |
ClinGen TOPMed |
|
|
CA6475560 rs752317541 |
468 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs886708314 CA233492458 |
469 | Q>* | No |
ClinGen Ensembl |
|
|
rs1307891885 CA384095189 |
471 | E>* | No |
ClinGen TOPMed |
|
|
rs758007322 CA6475561 |
472 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746455717 CA6475564 |
474 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA6475563 rs777268338 |
474 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6475565 rs545985727 |
476 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745782791 CA6475567 |
478 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1305106957 CA384095240 |
479 | I>V | No |
ClinGen TOPMed |
|
|
rs562512647 CA6475569 |
481 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768944324 CA6475571 |
486 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6475572 rs774704176 |
487 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA233492529 rs1013915273 |
489 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1013915273 CA384095330 |
489 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762055285 CA6475573 |
489 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767603938 CA6475574 |
490 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565600640 CA384095356 |
491 | S>P | No |
ClinGen Ensembl |
|
|
rs1394584388 CA384095358 |
491 | S>Y | No |
ClinGen gnomAD |
|
|
rs762021606 CA233492553 |
494 | G>C | No |
ClinGen Ensembl |
|
|
rs1374046343 CA384095398 |
495 | I>V | No |
ClinGen TOPMed |
|
|
rs750941218 CA6475575 |
496 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs766687410 CA6475577 |
498 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1279477094 CA384095447 |
499 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA233494150 rs934191015 |
500 | V>A | No |
ClinGen TOPMed |
|
|
rs1167314835 CA384095464 |
500 | V>L | No |
ClinGen TOPMed |
|
|
CA6475601 rs751258776 |
505 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA384095507 rs1374299159 |
506 | C>R | No |
ClinGen gnomAD |
|
|
CA6475603 rs766964646 |
507 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756881404 CA6475602 |
507 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475700708 CA384095523 |
508 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1268478941 CA384095529 |
509 | V>I | No |
ClinGen TOPMed |
|
|
rs749878853 CA6475604 |
511 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs755570054 CA6475605 |
512 | L>I | No |
ClinGen ExAC gnomAD |
|
|
COSM3811659 CA384095563 rs889951646 |
514 | N>K | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6475608 rs367949187 |
517 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384095581 rs1413485781 |
517 | Y>H | No |
ClinGen gnomAD |
|
|
CA6475609 rs778801571 COSM2156590 |
519 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs559692629 CA6475611 |
520 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559692629 COSM3980951 CA384095601 |
520 | H>R | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA384095600 rs1456066038 |
520 | H>Y | No |
ClinGen TOPMed |
|
|
rs1017124038 CA384095610 CA233494256 |
521 | L>F | No |
ClinGen gnomAD |
|
|
rs72559743 CA233494263 |
522 | G>C | No |
ClinGen gnomAD |
|
|
rs747168973 CA384095613 |
522 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs72559743 CA384095611 |
522 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747168973 CA6475613 |
522 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770910184 CA6475614 |
523 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6475615 rs777161969 |
523 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411360047 CA384095624 |
524 | C>Y | No |
ClinGen gnomAD |
|
|
CA384095634 rs1428649186 |
525 | P>L | No |
ClinGen gnomAD |
|
|
CA384095646 rs1305732600 |
527 | D>G | No |
ClinGen gnomAD |
|
|
CA384095655 rs1349659255 |
528 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384095654 rs1349659255 |
528 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6475616 rs760009998 |
529 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761374022 CA6475620 |
530 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs188500840 CA6475618 |
530 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6475619 rs761374022 |
530 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6475621 rs750041422 |
531 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1291166393 CA384095673 |
532 | R>G | No |
ClinGen gnomAD |
|
|
rs971411455 CA233494363 |
533 | K>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 533 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293695602 CA384095706 |
536 | I>T | No |
ClinGen gnomAD |
|
|
rs781244162 CA233494371 |
538 | V>G | No |
ClinGen Ensembl |
|
|
CA6475627 rs536840499 |
539 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6475628 rs536840499 |
539 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6475630 rs778122196 |
540 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs747167552 CA6475631 |
541 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs781196802 CA6475634 |
543 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs771090568 CA6475633 |
543 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 543 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384095803 rs1394802364 |
546 | L>S | No |
ClinGen gnomAD |
|
| rs78627909 | 546 | L>V | Variant assessed as Somatic; 0.0001398 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 547 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475638 rs770216729 |
548 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233494413 rs770216729 |
548 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384095837 rs1198690499 |
549 | A>E | No |
ClinGen TOPMed |
|
|
CA233494414 rs550694241 |
549 | A>P | No |
ClinGen 1000Genomes TOPMed |
|
|
CA384095832 rs550694241 |
549 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA6475639 rs144378120 |
550 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276053307 CA384095860 |
551 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 551 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396825033 CA384095864 |
552 | G>S | No |
ClinGen gnomAD |
|
|
CA233494420 rs915091889 |
553 | T>A | No |
ClinGen TOPMed |
|
|
rs1441856659 CA384095890 |
554 | T>I | No |
ClinGen gnomAD |
|
|
CA6475643 rs768874170 |
556 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475644 rs772969481 |
557 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384095930 rs1238244608 |
558 | L>S | No |
ClinGen gnomAD |
|
|
CA384095944 rs1265646811 |
559 | T>I | No |
ClinGen TOPMed gnomAD |
|
| rs1354872742 | 561 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764807968 CA6475669 |
562 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1357351286 CA384096471 |
563 | V>A | No |
ClinGen gnomAD |
|
|
rs1306102479 CA384096467 |
563 | V>I | No |
ClinGen gnomAD |
|
|
CA384096474 rs1415337074 |
564 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1373163611 CA384096476 |
564 | Q>R | No |
ClinGen gnomAD |
|
|
rs775545812 CA6475670 |
565 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 565 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762749463 CA6475671 |
566 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307282619 CA384096511 |
569 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA384096508 rs763975880 |
569 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6475672 rs763975880 |
569 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384096520 rs76963574 |
571 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6475674 rs76963574 RCV001001985 |
571 | A>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6475673 rs751243428 |
571 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384096521 rs76963574 |
571 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6475675 rs564235948 |
572 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369136047 CA6475676 |
574 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475677 rs756237829 |
576 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1217439951 CA384096562 |
577 | M>I | No |
ClinGen TOPMed |
|
|
CA384096575 rs1187296494 |
579 | I>T | No |
ClinGen gnomAD |
|
|
rs1476458106 CA384096572 |
579 | I>V | No |
ClinGen gnomAD |
|
|
CA233508896 rs369584908 |
581 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 582 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475702 rs748633316 |
584 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384096747 rs1591789658 |
586 | L>V | No |
ClinGen Ensembl |
|
|
CA6475703 rs758882062 |
588 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6475705 rs369164160 |
589 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745546173 CA6475706 |
590 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 590 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6475707 rs769260347 |
591 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143362002 COSM108110 CA233510699 |
592 | G>W | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 593 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159094643 CA384096843 |
595 | I>M | No |
ClinGen gnomAD |
|
|
CA384096838 rs1471099707 |
595 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 596 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384096851 rs1455222732 |
596 | D>G | No |
ClinGen gnomAD |
|
|
COSM692854 rs1410549391 CA384096845 |
596 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1410549391 CA384096848 |
596 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748804554 CA6475709 |
597 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6475710 rs768205361 |
598 | T>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000756665 rs766686725 |
599 | C>missing | No |
ClinVar dbSNP |
|
|
rs938990582 CA233510743 |
599 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1279528509 CA384096881 |
599 | C>Y | No |
ClinGen gnomAD |
|
|
rs761692269 CA6475713 |
600 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs550941268 CA6475715 |
602 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771888713 CA6475714 |
602 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6475717 rs766569013 |
604 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384096952 rs1287414086 |
604 | T>I | No |
ClinGen gnomAD |
|
|
CA384096957 rs1439391065 |
605 | N>D | No |
ClinGen gnomAD |
|
|
CA233510766 rs1043856293 |
606 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384096984 rs754088334 |
607 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754088334 CA6475718 |
607 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233510786 rs866623355 |
609 | A>T | No |
ClinGen gnomAD |
|
|
CA6475721 rs765336801 |
610 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753277905 CA6475722 |
611 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384097022 rs1399045554 |
611 | G>R | No |
ClinGen gnomAD |
|
|
rs1349111961 CA384097036 |
612 | A>D | No |
ClinGen gnomAD |
|
|
rs1349111961 CA384097040 |
612 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA233510791 rs1043204378 |
615 | I>V | No |
ClinGen TOPMed |
|
|
CA6475724 rs778282307 |
616 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233510794 rs904611575 |
616 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384097086 rs1428074479 |
617 | N>D | No |
ClinGen TOPMed |
|
|
rs1392198510 CA384097098 |
618 | S>A | No |
ClinGen TOPMed |
|
|
CA233510801 rs868348174 |
618 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA384097109 rs202234562 |
619 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 621 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM2004812 CA233510822 rs77265855 |
621 | F>L | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM2004812 rs748950766 CA6475729 |
621 | F>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA233510829 rs998540216 |
622 | G>E | No |
ClinGen TOPMed |
|
|
CA233510827 rs867325631 |
622 | G>R | No |
ClinGen Ensembl |
|
|
CA384098196 rs917363998 |
624 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs917363998 CA233518293 |
624 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA233518299 rs200412791 |
625 | Y>* | No |
ClinGen Ensembl |
|
|
CA6475765 rs774744529 |
625 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6475764 rs764236010 |
625 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA6475766 rs762342274 |
627 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs762342274 CA233518300 |
627 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs750741931 CA6475768 |
629 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6475769 rs756425274 |
630 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384098258 rs1472559490 |
634 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764940356 CA6475770 |
636 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs376393874 CA6475771 |
637 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475772 rs757955904 |
637 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 638 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164411747 CA384098293 |
640 | Y>C | No |
ClinGen gnomAD |
|
|
CA6475774 rs374189599 |
641 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs550497909 CA6475775 |
642 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA233518337 rs927299017 |
643 | F>S | No |
ClinGen TOPMed |
|
|
CA384098317 rs1299795778 |
644 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 645 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 646 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368505590 CA384098343 COSM1360652 |
647 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM32316 CA233518339 CA384098338 rs556554798 VAR_036411 |
647 | M>L | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs556554798 COSM1360651 CA384098337 |
647 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6475778 rs200774414 |
648 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475779 rs561006699 |
648 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200774414 CA6475777 |
648 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475776 rs200774414 |
648 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749497062 CA6475780 |
650 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1565612675 CA384098381 |
653 | G>R | No |
ClinGen Ensembl |
|
|
rs371574727 CA6475781 |
655 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206995534 CA384098403 |
656 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384098416 rs1482993171 |
658 | A>P | No |
ClinGen gnomAD |
|
|
CA384098417 rs1482993171 |
658 | A>S | No |
ClinGen gnomAD |
|
|
CA233518350 rs947591133 COSM356719 |
658 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6475783 rs200539697 |
659 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6475786 rs367827357 |
661 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371725645 CA6475788 |
663 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475792 CA6475791 rs751019442 |
666 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6475790 rs763595105 |
666 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384098477 rs1448206331 |
667 | D>G | No |
ClinGen gnomAD |
|
|
rs1376710129 CA384098473 |
667 | D>N | No |
ClinGen gnomAD |
|
|
rs1376710129 CA384098475 |
667 | D>Y | No |
ClinGen gnomAD |
|
|
CA233518389 rs267603414 |
668 | E>K | No |
ClinGen Ensembl |
|
|
CA6475794 rs750296032 |
669 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs566619114 CA6475795 |
670 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6475796 rs779957534 |
671 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1298734805 CA384098501 |
671 | L>V | No |
ClinGen gnomAD |
|
|
rs1565612738 CA384098507 |
672 | E>Q | No |
ClinGen Ensembl |
|
|
CA384098520 rs1226803082 |
673 | F>L | No |
ClinGen gnomAD |
|
|
rs772110432 CA6475797 |
675 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233518401 rs768942214 |
677 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768942214 CA6475798 |
677 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1486947379 CA384098559 |
679 | H>R | No |
ClinGen gnomAD |
|
|
rs748331222 CA6475800 |
679 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384098565 rs1189483757 |
680 | F>V | No |
ClinGen gnomAD |
|
|
rs773820352 CA6475802 |
681 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6475801 rs377270851 |
681 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761123903 CA6475803 |
682 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384098579 rs761123903 |
682 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866655487 CA233518416 |
685 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 687 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414975524 CA384098611 |
688 | S>G | No |
ClinGen gnomAD |
|
|
rs899858622 CA233518424 |
688 | S>N | No |
ClinGen TOPMed |
|
|
rs1432429780 CA384098638 |
691 | C>* | No |
ClinGen gnomAD |
|
|
CA384098635 rs1356952535 |
691 | C>Y | No |
ClinGen gnomAD |
|
|
CA6475805 rs776910888 |
692 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs538452274 CA233518426 |
692 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 692 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233518428 rs996828511 |
696 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA384098670 rs996828511 |
696 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751167812 CA6475808 |
697 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs143038862 CA6475807 |
697 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6475806 rs762603384 |
697 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384098686 rs1219193433 |
698 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 699 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233518438 rs796988284 |
702 | N>IK | No |
ClinGen Ensembl |
|
|
CA6475810 rs368439565 |
702 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750407454 CA6475811 |
703 | N>L | No |
ClinGen ExAC gnomAD |
|
|
rs754496605 CA233518444 |
703 | N>Q | No |
ClinGen Ensembl |
1 associated diseases with Q9NPD5
[MIM: 237450]: Hyperbilirubinemia, Rotor type (HBLRR)
An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. {ECO:0000269|PubMed:22232210}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. {ECO:0000269|PubMed:22232210}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| bile acid transmembrane transporter activity | Enables the transfer of bile acid from one side of a membrane to the other. Bile acids are any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. |
| organic anion transmembrane transporter activity | Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. |
| sodium-independent organic anion transmembrane transporter activity | Enables the transfer of organic anions from one side of a membrane to the other, in a sodium independent manner. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| bile acid and bile salt transport | The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| heme catabolic process | The chemical reactions and pathways resulting in the breakdown of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring. |
| organic anion transport | The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. |
| sodium-independent organic anion transport | The directed, sodium-independent, movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O94956 | SLCO2B1 | Solute carrier organic anion transporter family member 2B1 | Homo sapiens (Human) | PR |
| Q9JJL3 | Slco1b2 | Solute carrier organic anion transporter family member 1B2 | Mus musculus (Mouse) | PR |
| Q9QZX8 | Slco1b2 | Solute carrier organic anion transporter family member 1B2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDQHQHLNKT | AESASSEKKK | TRRCNGFKMF | LAALSFSYIA | KALGGIIMKI | SITQIERRFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ISSSLAGLID | GSFEIGNLLV | IVFVSYFGSK | LHRPKLIGIG | CLLMGTGSIL | TSLPHFFMGY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YRYSKETHIN | PSENSTSSLS | TCLINQTLSF | NGTSPEIVEK | DCVKESGSHM | WIYVFMGNML |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RGIGETPIVP | LGISYIDDFA | KEGHSSLYLG | SLNAIGMIGP | VIGFALGSLF | AKMYVDIGYV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DLSTIRITPK | DSRWVGAWWL | GFLVSGLFSI | ISSIPFFFLP | KNPNKPQKER | KISLSLHVLK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TNDDRNQTAN | LTNQGKNVTK | NVTGFFQSLK | SILTNPLYVI | FLLLTLLQVS | SFIGSFTYVF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KYMEQQYGQS | ASHANFLLGI | ITIPTVATGM | FLGGFIIKKF | KLSLVGIAKF | SFLTSMISFL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FQLLYFPLIC | ESKSVAGLTL | TYDGNNSVAS | HVDVPLSYCN | SECNCDESQW | EPVCGNNGIT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YLSPCLAGCK | SSSGIKKHTV | FYNCSCVEVT | GLQNRNYSAH | LGECPRDNTC | TRKFFIYVAI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QVINSLFSAT | GGTTFILLTV | KIVQPELKAL | AMGFQSMVIR | TLGGILAPIY | FGALIDKTCM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KWSTNSCGAQ | GACRIYNSVF | FGRVYLGLSI | ALRFPALVLY | IVFIFAMKKK | FQGKDTKASD |
| 670 | 680 | 690 | 700 | ||
| NERKVMDEAN | LEFLNNGEHF | VPSAGTDSKT | CNLDMQDNAA | AN |