P23229
PR
Gene name |
ITGA6 |
Protein name |
Integrin alpha-6 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3655 |
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
3 structures for P23229
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7CEB | X-ray | 289 A | A | 24-680 | PDB |
| 7CEC | EM | 390 A | A | 24-680 | PDB |
| AF-P23229-F1 | Predicted | AlphaFoldDB |
802 variants for P23229
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1967693 RCV000320725 rs201418157 RCV000898687 |
4 | A>T | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000885969 rs138572695 RCV001135598 CA1967719 |
50 | M>V | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200919733 CA349300027 RCV000779285 |
86 | C>* | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001090463 COSM1669414 rs754621187 CA349303011 COSM1669413 RCV002497492 |
148 | R>* | large_intestine EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001130521 RCV002485837 CA60706736 RCV000722974 rs920885330 |
368 | G>R | Junctional epidermolysis bullosa with pyloric atresia EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000279397 RCV001594964 rs11895564 CA1968043 |
419 | A>T | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs773159811 CA1968124 RCV000310914 |
504 | R>W | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10613050 RCV000368179 rs886055128 |
515 | V>G | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1968165 RCV001134214 RCV002556871 RCV002480511 rs139324320 RCV001856721 |
545 | T>I | Junctional epidermolysis bullosa with pyloric atresia Inborn genetic diseases EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000309898 RCV000968994 rs16860530 CA1968212 |
621 | I>V | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002491402 RCV001354872 CA1968229 rs148815652 RCV001134216 |
656 | I>T | Junctional epidermolysis bullosa with pyloric atresia EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002488705 CA1968264 rs368015396 RCV000362303 |
696 | I>V | Junctional epidermolysis bullosa with pyloric atresia EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000278674 CA1968350 RCV000956002 rs2737085 |
805 | D>Y | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000317348 rs201430068 CA1968371 |
837 | S>L | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs779823355 CA1968430 RCV001135716 |
887 | T>I | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000388751 CA1968442 rs61757096 RCV002521333 |
923 | Q>R | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000296803 CA1968471 RCV002502286 rs199587983 |
941 | R>W | Junctional epidermolysis bullosa with pyloric atresia EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000889747 RCV000349267 CA1968473 rs61737182 |
949 | D>N | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1968480 rs775389058 RCV001128722 |
965 | L>P | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000387501 CA1968496 RCV001690097 rs10209072 |
969 | V>M | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778456920 CA1968498 RCV002521334 RCV002504120 RCV000290729 |
970 | N>S | Junctional epidermolysis bullosa with pyloric atresia EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1968502 RCV002057608 rs138874769 RCV000347958 |
979 | P>L | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1968517 RCV000308413 RCV000900532 rs150695902 |
992 | R>H | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002488706 CA1968518 RCV000341392 rs565088728 |
993 | S>L | Junctional epidermolysis bullosa with pyloric atresia EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001856699 rs868362021 RCV001131344 CA60689944 |
1006 | K>T | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs769808745 CA1968542 RCV000779286 |
1015 | R>* | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000260596 rs886055130 CA10612798 |
1087 | D>N | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001134347 CA1968649 rs773696478 |
1092 | R>G | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs55707934 RCV001135814 CA1968660 |
1104 | E>Q | Junctional epidermolysis bullosa with pyloric atresia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770965047 CA1967691 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349290973 rs1454318766 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs201418157 CA349290993 |
4 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753245055 CA1967695 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349291039 rs1371043997 |
6 | Q>H | No |
ClinGen gnomAD |
|
|
rs1416564292 CA349291057 |
8 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1416564292 CA349291055 |
8 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349291081 rs1291296354 |
9 | L>S | No |
ClinGen gnomAD |
|
|
rs1280984048 CA349291117 |
11 | Y>S | No |
ClinGen gnomAD |
|
|
CA349291146 rs1574301733 |
12 | L>R | No |
ClinGen Ensembl |
|
|
rs564206622 CA1967701 |
13 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1486826628 CA349291166 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs758278211 CA1967702 |
14 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA349291191 rs1257432098 |
15 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA349291187 rs1257432098 |
15 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA60682389 rs767272243 |
16 | L>F | No |
ClinGen Ensembl |
|
|
rs1362322499 CA349291244 |
19 | R>P | No |
ClinGen gnomAD |
|
|
rs150472149 CA1967703 |
19 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375850035 CA349291274 |
21 | G>S | No |
ClinGen gnomAD |
|
|
CA349291282 rs1436280545 |
21 | G>V | No |
ClinGen gnomAD |
|
|
rs1179548249 CA349291289 |
22 | A>G | No |
ClinGen TOPMed |
|
|
CA349291283 rs1311063032 |
22 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349291307 rs1574301857 |
25 | N>H | No |
ClinGen Ensembl |
|
|
rs954207601 CA60682401 |
26 | L>V | No |
ClinGen Ensembl |
|
|
CA349291322 rs1391510297 |
27 | D>V | No |
ClinGen gnomAD |
|
|
CA349291335 rs1460362399 |
29 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA60682432 rs1020126767 |
32 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA60682440 rs965204894 |
33 | V>M | No |
ClinGen gnomAD |
|
|
rs972560376 CA60682455 |
34 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA349291373 rs1233010383 |
35 | R>W | No |
ClinGen TOPMed |
|
|
rs774309985 CA1967709 |
36 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1967710 rs746019316 |
37 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776183303 CA1967712 |
39 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761245728 CA1967713 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761245728 CA1967714 |
40 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs777091551 CA1967715 |
43 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377038208 CA349291454 |
47 | S>L | No |
ClinGen gnomAD |
|
|
CA1967718 rs750028773 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1967721 rs751546962 |
50 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1967720 rs544002743 |
50 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1372698008 CA349291471 |
51 | H>N | No |
ClinGen gnomAD |
|
|
CA1967722 rs374272135 |
53 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349291499 rs1301054995 |
54 | L>R | No |
ClinGen gnomAD |
|
|
rs780969691 CA1967723 |
55 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA349291513 rs1250054509 |
57 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779259818 CA1967727 |
58 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317443785 CA349291522 |
58 | D>N | No |
ClinGen gnomAD |
|
|
rs1255176355 CA349291532 |
59 | K>R | No |
ClinGen gnomAD |
|
|
CA1967754 rs773400791 |
67 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349299554 rs188528648 |
68 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1967757 rs773979811 |
68 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1967756 rs188528648 |
68 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349299567 rs1353717930 |
69 | A>T | No |
ClinGen gnomAD |
|
|
CA349299615 rs1227798481 |
70 | E>D | No |
ClinGen gnomAD |
|
|
CA349299657 rs1308039596 |
71 | A>V | No |
ClinGen gnomAD |
|
|
CA60704020 rs551513063 |
73 | P>S | No |
ClinGen 1000Genomes |
|
|
rs766981406 CA349299700 |
74 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs766981406 CA1967759 |
74 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1200330933 CA349299736 |
76 | R>G | No |
ClinGen TOPMed |
|
|
CA1967761 rs570132371 |
78 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537188726 CA1967762 |
80 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1471555174 CA349299844 |
81 | G>E | No |
ClinGen gnomAD |
|
|
CA1967764 rs758712163 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1420534943 CA349299912 |
84 | Y>H | No |
ClinGen gnomAD |
|
|
rs1156404408 CA349299975 |
85 | S>N | No |
ClinGen gnomAD |
|
|
rs755151257 CA1967767 |
87 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1967768 rs755151257 |
87 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349300063 rs1315433275 |
88 | I>M | No |
ClinGen gnomAD |
|
|
CA349300075 rs1559133279 |
90 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs200823590 CA349300101 |
91 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200823590 CA349300100 |
91 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1967770 rs200823590 |
91 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349300097 rs1447443958 |
91 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA60704041 rs918959143 CA349300104 |
92 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs918959143 CA349300105 |
92 | G>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 93 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349300128 rs1222297388 |
93 | P>R | No |
ClinGen gnomAD |
|
|
rs1308717863 CA349300174 |
95 | T>A | No |
ClinGen gnomAD |
|
|
CA1967771 rs535667916 |
95 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1967772 rs535667916 |
95 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1153539 rs759165416 CA1967775 COSM1009575 |
96 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs887884775 CA349300319 |
98 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 98 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1967777 rs774820057 |
99 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1967778 rs760662250 |
100 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1967780 rs753805092 |
102 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1967801 rs141735531 |
104 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1967803 rs374453759 |
105 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1210998 COSM1210997 CA1967804 rs773103213 |
106 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759843309 CA1967805 |
112 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023426704 CA60704659 |
116 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA349301169 rs1451454296 |
117 | V>F | No |
ClinGen gnomAD |
|
|
CA349301180 rs1574365006 |
117 | V>G | No |
ClinGen Ensembl |
|
|
CA1967808 rs752959932 |
118 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1967809 rs756187982 |
119 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465709664 CA349301273 |
120 | Q>E | No |
ClinGen TOPMed |
|
|
CA349301313 rs1172937684 |
120 | Q>H | No |
ClinGen TOPMed |
|
|
CA1967811 rs754363708 |
120 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs1476189389 CA349301491 |
123 | G>S | No |
ClinGen gnomAD |
|
|
CA1967813 rs779251826 |
129 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA60705136 rs866151033 RCV000722639 |
134 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs866151033 CA349302882 |
134 | R>G | No |
ClinGen gnomAD |
|
|
CA60705140 rs925118831 |
134 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs925118831 CA349302883 |
134 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1238338788 CA349302887 |
135 | Y>H | No |
ClinGen TOPMed |
|
|
CA60705152 rs932482456 |
140 | H>D | No |
ClinGen Ensembl |
|
|
CA1967832 rs750929273 |
140 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1441093238 CA349302934 |
141 | V>A | No |
ClinGen TOPMed |
|
|
CA1967833 rs199977185 |
143 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1199197711 CA349302968 |
145 | Q>* | No |
ClinGen gnomAD |
|
|
rs1320558722 CA349302976 |
145 | Q>R | No |
ClinGen TOPMed |
|
|
CA60705162 rs990302932 |
146 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780855662 CA1967837 |
148 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1967838 rs747605066 |
151 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA349303063 rs1279132219 |
151 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1967839 rs769416295 |
153 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA349303085 rs1310112841 |
153 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1967840 rs200944396 |
156 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1967841 rs749227031 |
158 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA349303208 rs1237568872 |
160 | N>D | No |
ClinGen gnomAD |
|
|
CA349303232 rs1559136002 |
161 | L>V | No |
ClinGen Ensembl |
|
|
CA349303296 rs1170678945 |
162 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs967691935 CA60705173 |
164 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1967842 rs770652372 |
165 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349303401 rs1374169695 COSM208115 |
166 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1445531590 CA349303597 |
170 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1314251798 CA349303665 |
171 | D>G | No |
ClinGen gnomAD |
|
|
rs147253357 CA60705177 |
173 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA60705179 rs1008138184 |
175 | C>Y | No |
ClinGen Ensembl |
|
|
rs1255920899 CA349303827 |
176 | D>H | No |
ClinGen gnomAD |
|
|
CA1967847 rs761943613 |
178 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765274490 CA1967848 |
180 | R>S | No |
ClinGen ExAC |
|
|
rs750980008 CA1967850 |
181 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA349304046 rs1559136084 |
182 | H>R | No |
ClinGen Ensembl |
|
|
CA349304116 rs1440679126 |
185 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349304238 rs1253404239 |
189 | Q>E | No |
ClinGen gnomAD |
|
|
rs1036639434 CA60705188 |
191 | G>V | No |
ClinGen Ensembl |
|
|
CA1967851 rs763471763 |
193 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs534465469 CA1967854 |
197 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1967855 rs781049823 |
198 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA60705202 rs750365882 |
201 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1967857 rs755733951 |
201 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA60705205 rs942688573 |
202 | Y>C | No |
ClinGen TOPMed |
|
|
rs1370263357 CA349304599 |
202 | Y>N | No |
ClinGen gnomAD |
|
|
rs777367957 CA1967858 |
203 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1423277877 CA349304632 |
203 | I>T | No |
ClinGen gnomAD |
|
|
rs770832668 CA1967860 |
204 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349304649 rs770832668 |
204 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1967862 rs745729558 |
211 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs776882181 CA349304834 |
212 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214554170 CA537974051 |
213 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA60705764 rs925716724 |
215 | G>E | No |
ClinGen Ensembl |
|
|
CA1967865 rs762004665 |
215 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA349305160 rs1264654514 |
218 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1967881 rs547472531 |
218 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA349305162 rs547472531 |
218 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1967882 rs758242266 |
220 | E>K | No |
ClinGen ExAC |
|
|
COSM1482187 CA1967883 COSM1482188 rs779777573 |
222 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1487706480 CA349305196 |
223 | N>S | No |
ClinGen gnomAD |
|
|
rs773179567 CA1967886 |
226 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349305280 rs1163558259 |
228 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349305382 rs1574371470 |
233 | E>D | No |
ClinGen Ensembl |
|
|
CA349305463 rs1421896352 |
238 | E>A | No |
ClinGen gnomAD |
|
|
CA60705797 rs376487015 |
238 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA1967888 rs770912051 |
239 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770912051 CA349305476 |
239 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1426112070 CA349305519 |
242 | E>K | No |
ClinGen TOPMed |
|
|
CA1967891 rs768022844 |
244 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs907583894 CA60705807 |
245 | H>R | No |
ClinGen TOPMed |
|
|
rs370702437 CA1967892 |
246 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760413657 CA1967893 |
247 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1967895 rs763863109 |
248 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1967894 rs763863109 |
248 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1967896 rs756828299 |
249 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1193343860 CA349305637 |
249 | L>V | No |
ClinGen gnomAD |
|
|
CA1967898 rs750401792 |
250 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210673645 CA349305676 |
251 | P>S | No |
ClinGen gnomAD |
|
|
rs1156810088 CA349305692 |
252 | V>L | No |
ClinGen TOPMed |
|
|
rs1180990647 CA349305771 |
255 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574371697 CA349305800 |
256 | S>N | No |
ClinGen Ensembl |
|
|
rs1200449898 CA349305807 |
257 | Y>N | No |
ClinGen TOPMed |
|
|
rs1173478641 CA349306450 |
259 | G>D | No |
ClinGen TOPMed |
|
|
CA349306454 rs1196446655 |
260 | L>M | No |
ClinGen gnomAD |
|
|
CA349306455 rs1257016313 |
260 | L>Q | No |
ClinGen gnomAD |
|
|
rs1452599782 CA349306462 |
261 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1967932 rs139181030 |
265 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349306494 rs1425884358 |
266 | V>A | No |
ClinGen gnomAD |
|
|
rs769276728 CA1967934 |
266 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1967936 rs372581803 |
268 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349306516 rs1414770769 |
270 | D>N | No |
ClinGen gnomAD |
|
|
rs1188073025 CA349306527 |
271 | P>R | No |
ClinGen TOPMed |
|
|
CA349306536 rs1347852635 |
272 | D>E | No |
ClinGen gnomAD |
|
|
CA1967939 rs545414614 |
273 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA349306537 rs545414614 |
273 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs377253865 CA349306540 |
273 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377253865 CA1967940 |
273 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349306561 rs1277224866 |
274 | F>L | No |
ClinGen gnomAD |
|
|
CA349306554 rs1216231292 |
274 | F>S | No |
ClinGen gnomAD |
|
|
CA1967942 rs767348054 |
275 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752376947 CA1967943 |
276 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1967945 rs373018773 |
279 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1967944 rs370443376 |
279 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750638538 CA1967946 |
281 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA60706312 rs867565337 |
281 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs373728387 CA1967950 |
282 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA1967951 rs780230416 |
282 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373728387 CA1967949 |
282 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
| TCGA novel | 285 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192996596 CA349306720 |
286 | D>G | No |
ClinGen gnomAD |
|
|
CA349306806 rs1161621418 CA349306804 |
292 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs914383349 CA60706348 |
292 | M>K | No |
ClinGen Ensembl |
|
|
rs758102554 CA1967954 |
292 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1559138686 CA349306841 |
294 | N>S | No |
ClinGen Ensembl |
|
|
CA1967955 rs768980403 |
295 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1423752310 CA349306855 |
295 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349307269 rs1198772117 |
298 | G>A | No |
ClinGen gnomAD |
|
|
CA1967956 rs74728869 |
298 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA60706680 rs1052235923 |
302 | D>G | No |
ClinGen Ensembl |
|
|
CA1967981 rs748943013 |
303 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs770511027 CA1967982 |
304 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs988509917 CA60706687 |
307 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1475089984 CA349307420 |
311 | D>E | No |
ClinGen TOPMed |
|
|
COSM1590883 CA349307440 COSM1009581 rs1181076031 |
312 | E>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs745435250 CA1967984 |
312 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349307452 rs1482399904 |
313 | I>M | No |
ClinGen TOPMed |
|
|
rs1184770356 CA349307448 |
313 | I>N | No |
ClinGen TOPMed |
|
|
rs771576686 CA1967985 |
316 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs377193500 CA1967987 |
322 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377193500 CA1967986 |
322 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1967988 rs371942298 |
323 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349307578 rs1359446841 |
325 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA349307589 rs1332878589 |
326 | G>A | No |
ClinGen gnomAD |
|
|
CA349307631 rs1302637045 |
333 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1302637045 CA349307632 |
333 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA349307664 rs1333365602 |
335 | M>I | No |
ClinGen gnomAD |
|
|
CA60706710 rs954985654 |
338 | A>V | No |
ClinGen TOPMed |
|
|
rs755052791 CA1967993 |
339 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200834459 CA349307751 |
341 | L>P | No |
ClinGen gnomAD |
|
| rs1318622655 | 341 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 343 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349307832 rs1256388995 |
345 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1967995 rs145641588 |
347 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145641588 CA1967994 |
347 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756546071 CA1967996 |
349 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1967998 rs149809522 |
350 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149809522 CA1967997 |
350 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196584180 CA349307975 |
352 | A>S | No |
ClinGen gnomAD |
|
|
rs1161879558 CA349308120 |
357 | Y>C | No |
ClinGen TOPMed |
|
|
rs567383418 CA1967999 |
357 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349308177 rs778467090 |
360 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3391122 COSM3391123 rs778467090 CA1968000 |
360 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs371457973 CA1968002 |
361 | V>G | No |
ClinGen ExAC |
|
|
CA349308197 rs1294513379 |
361 | V>M | No |
ClinGen gnomAD |
|
|
rs148547864 CA1968003 |
362 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1968004 rs148547864 |
362 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349308212 rs1282925712 |
362 | V>L | No |
ClinGen gnomAD |
|
|
rs1574377325 CA349308252 |
363 | D>G | No |
ClinGen Ensembl |
|
|
rs768659834 CA1968005 |
364 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA349308308 rs1574377339 |
366 | K>E | No |
ClinGen Ensembl |
|
|
CA60707036 rs866757601 |
370 | Q>K | No |
ClinGen Ensembl |
|
|
CA1968024 rs200187345 |
372 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1354355081 CA349308649 |
374 | I>T | No |
ClinGen gnomAD |
|
|
CA1968025 rs369429678 |
375 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349308672 rs1485258375 |
376 | A>S | No |
ClinGen gnomAD |
|
|
rs1182147013 CA349308678 |
376 | A>V | No |
ClinGen gnomAD |
|
|
rs953673940 CA60707045 |
380 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA349308744 rs953673940 |
380 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1968027 rs769501430 |
381 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769501430 CA349308752 |
381 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA60707049 rs935982578 |
383 | D>G | No |
ClinGen TOPMed |
|
|
CA60707050 rs987707617 |
386 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1968029 rs201037158 |
389 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304860542 CA349308903 |
390 | V>A | No |
ClinGen gnomAD |
|
|
CA349308898 CA1968031 rs146630825 |
390 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349308908 rs1377210908 |
391 | Y>H | No |
ClinGen gnomAD |
|
|
CA60707076 rs865815836 |
394 | M>I | No |
ClinGen Ensembl |
|
|
CA349308966 rs1377277731 |
394 | M>K | No |
ClinGen gnomAD |
|
|
rs764133058 CA349308960 |
394 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs764133058 CA1968033 |
394 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA349308990 rs1242309799 |
397 | Q>E | No |
ClinGen gnomAD |
|
|
rs1315859608 CA349309001 |
398 | G>D | No |
ClinGen gnomAD |
|
|
rs754361773 CA1968034 |
398 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1968035 rs762264906 |
400 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1209270486 CA349309060 |
405 | P>Q | No |
ClinGen TOPMed |
|
|
rs765521638 CA349309054 |
405 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1968036 rs765521638 |
405 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs201246910 CA349309070 |
406 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1968037 rs201246910 |
406 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1968038 rs758680557 |
407 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766125663 CA1968039 |
407 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA349309099 rs1574378923 |
408 | L>F | No |
ClinGen Ensembl |
|
|
CA1968040 rs751229931 |
408 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs754584199 CA1968041 |
413 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs962362378 CA60707102 |
415 | M>V | No |
ClinGen gnomAD |
|
|
CA1968042 rs780800631 |
418 | I>M | No |
ClinGen ExAC |
|
| TCGA novel | 422 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 422 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469486270 CA349309341 |
423 | I>F | No |
ClinGen gnomAD |
|
|
CA1968044 rs756015186 |
423 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777556504 CA1968045 |
425 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA60707116 rs920625732 |
426 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 426 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA60707120 rs930687066 |
430 | G>R | No |
ClinGen TOPMed |
|
|
CA349309504 rs1372559238 |
433 | D>N | No |
ClinGen gnomAD |
|
|
rs763418743 CA1968057 |
434 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs200217971 CA1968060 |
440 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349309775 rs1212376849 |
445 | K>* | No |
ClinGen gnomAD |
|
|
rs752311183 CA1968063 |
445 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752311183 CA1968064 |
445 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349309835 rs1224502009 |
450 | H>R | No |
ClinGen gnomAD |
|
|
rs1295937888 CA349309848 |
452 | S>Y | No |
ClinGen TOPMed |
|
|
CA1968067 rs757094364 |
461 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1574380239 CA916711339 |
463 | V>L | No |
ClinGen Ensembl |
|
|
CA1968091 rs781436857 |
465 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1359410632 CA349310334 |
467 | I>V | No |
ClinGen gnomAD |
|
|
rs914913238 CA60707692 |
468 | S>A | No |
ClinGen TOPMed |
|
|
rs748299804 CA1968092 |
469 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA60707701 rs1130988 |
470 | Y>H | No |
ClinGen Ensembl |
|
|
CA1968093 rs769943700 |
473 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA349310372 rs1559141278 |
473 | Y>H | No |
ClinGen Ensembl |
|
|
RCV000722819 rs769943700 CA349310375 |
473 | Y>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA349310381 rs1437235077 |
474 | S>* | No |
ClinGen TOPMed |
|
|
rs777675155 COSM1401294 COSM1401295 CA1968094 |
475 | I>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749807672 CA1968095 |
476 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349310406 rs1437569548 |
478 | N>I | No |
ClinGen gnomAD |
|
|
rs771508036 CA1968096 |
479 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774992379 CA349310442 |
483 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774992379 COSM1590881 COSM1009589 CA1968097 |
483 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349310478 rs1317494787 |
488 | D>E | No |
ClinGen TOPMed |
|
|
rs760017095 CA1968098 |
490 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1968099 rs772542431 |
492 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1968101 rs760201333 |
498 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA349310558 rs1225569415 |
501 | F>L | No |
ClinGen TOPMed |
|
|
CA1968122 rs761355028 |
503 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1968125 rs758804537 |
504 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968126 rs766205542 |
507 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA349310603 rs1197307659 |
507 | I>M | No |
ClinGen TOPMed |
|
|
CA349310619 rs1269490778 |
510 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1269490778 CA349310620 |
510 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751258050 CA1968127 |
510 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA349310652 rs1196691830 |
514 | T>I | No |
ClinGen gnomAD |
|
|
CA60708901 rs147243269 |
517 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA349310677 rs1477951295 |
519 | R>G | No |
ClinGen gnomAD |
|
|
CA1968128 rs754791197 |
520 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA349310702 rs1371760807 |
521 | D>E | No |
ClinGen gnomAD |
|
|
rs201826336 CA1968129 |
522 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545486754 CA1968130 |
523 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1968131 rs200082047 |
523 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349310733 rs200082047 |
523 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968133 rs746381165 |
524 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1284001849 CA349310790 |
527 | A>T | No |
ClinGen TOPMed |
|
|
CA1968134 rs572209759 |
527 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 529 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349310831 rs1574387035 |
529 | G>R | No |
ClinGen Ensembl |
|
|
rs1293690360 CA349310841 |
530 | A>T | No |
ClinGen gnomAD |
|
|
rs1324522757 CA349310852 |
530 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1968137 rs769035345 |
531 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs907624680 CA60708920 |
532 | S>R | No |
ClinGen Ensembl |
|
|
CA60708922 rs963495219 |
533 | G>R | No |
ClinGen gnomAD |
|
|
CA1968138 rs776196889 |
533 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200560853 CA1968163 |
535 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1968162 rs200560853 |
535 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA60709009 rs963121180 |
536 | L>P | No |
ClinGen gnomAD |
|
|
rs1203832417 CA349311570 |
542 | F>C | No |
ClinGen gnomAD |
|
|
CA1968164 rs774175345 |
544 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771764369 CA1968166 |
546 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380398585 CA349311605 |
547 | N>K | No |
ClinGen TOPMed |
|
|
CA349311615 rs765621037 |
549 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760532151 CA1968168 |
549 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765621037 CA1968169 |
549 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299972304 CA349311618 |
550 | G>R | No |
ClinGen TOPMed |
|
|
CA349311635 rs1363241248 |
552 | N>S | No |
ClinGen gnomAD |
|
|
CA349311642 rs1466749445 |
553 | P>L | No |
ClinGen gnomAD |
|
|
rs980261911 CA60709022 |
555 | I>T | No |
ClinGen gnomAD |
|
|
rs1574395400 CA349292009 |
559 | G>R | No |
ClinGen Ensembl |
|
|
rs1427498212 CA349292030 |
560 | T>I | No |
ClinGen gnomAD |
|
|
rs752671885 CA60683534 |
561 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 564 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768547615 CA1968186 |
567 | R>S | No |
ClinGen ExAC |
|
|
rs866162259 CA60683538 |
568 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 569 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1968188 rs763196422 |
572 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349292258 rs1286724891 |
576 | V>F | No |
ClinGen TOPMed |
|
|
CA349292275 rs766374480 |
577 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1968189 rs766374480 |
577 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1401299 rs751599520 CA1968190 COSM1401298 |
579 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349292306 rs1005704533 |
579 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA60683567 COSM1590879 COSM208117 rs1005704533 |
579 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA349292326 rs1284603401 |
581 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA349292381 rs1376025467 |
585 | P>S | No |
ClinGen TOPMed |
|
|
rs768083494 CA1968192 |
586 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968193 rs753175102 |
588 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs756521938 CA1968194 |
591 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1490644412 CA349292464 |
593 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 596 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866715536 CA60683624 |
596 | Q>K | No |
ClinGen Ensembl |
|
|
CA1968196 rs753433966 |
596 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 599 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349292513 rs1331943468 |
599 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA349292517 rs1480234655 |
600 | V>E | No |
ClinGen gnomAD |
|
|
CA60683642 rs1018290650 CA349292534 |
602 | M>I | No |
ClinGen gnomAD |
|
|
rs1420030612 CA349292532 |
602 | M>T | No |
ClinGen gnomAD |
|
|
CA349292539 rs1369911908 |
603 | E>G | No |
ClinGen gnomAD |
|
|
rs961457073 CA60683647 |
603 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA349292570 rs1574395686 |
607 | W>C | No |
ClinGen Ensembl |
|
|
CA349292582 rs1304448004 |
609 | Q>H | No |
ClinGen gnomAD |
|
|
CA1968209 rs771247506 |
610 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA349292603 rs1389261715 |
611 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1968210 rs778992933 |
617 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs533796307 CA1968211 |
617 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533796307 CA60683882 |
617 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251884501 CA349292663 |
620 | P>A | No |
ClinGen gnomAD |
|
|
rs776005321 CA1968213 |
621 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349292675 rs1318611840 |
622 | T>S | No |
ClinGen gnomAD |
|
|
CA349292692 rs1383983054 |
625 | V>L | No |
ClinGen gnomAD |
|
|
CA60683940 rs931641766 |
627 | I>N | No |
ClinGen TOPMed |
|
|
COSM1009594 CA349292707 rs1248871018 COSM1153542 |
627 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA349292717 rs1335020683 |
628 | Q>H | No |
ClinGen TOPMed |
|
|
CA60683953 rs1053042412 |
629 | E>K | No |
ClinGen Ensembl |
|
|
CA60683971 rs772240201 |
631 | S>C | No |
ClinGen Ensembl |
|
|
rs1018261307 CA60684014 |
633 | R>C | No |
ClinGen gnomAD |
|
|
rs754282661 CA1968217 |
633 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754282661 CA1968216 |
633 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1243323 rs764979549 COSM1243324 CA1968218 |
635 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1968219 rs750020736 |
635 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1968220 rs569331908 |
636 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA60684051 rs899822583 |
636 | V>M | No |
ClinGen Ensembl |
|
|
rs746949316 CA1968222 |
639 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs373305190 CA1968223 |
639 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349292784 rs1472397449 |
640 | P>L | No |
ClinGen gnomAD |
|
|
CA60684091 rs998618921 |
640 | P>S | No |
ClinGen Ensembl |
|
|
CA349292810 rs1158652479 |
644 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA60684110 rs780219832 |
645 | I>V | No |
ClinGen Ensembl |
|
|
rs1398658724 CA349292829 |
647 | N>K | No |
ClinGen gnomAD |
|
|
CA349292826 rs1409450419 |
647 | N>S | No |
ClinGen gnomAD |
|
|
CA1968224 rs553899697 COSM3770950 COSM3770951 |
648 | S>L | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA1968225 rs748045472 |
649 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1420842182 CA349292840 |
649 | D>G | No |
ClinGen gnomAD |
|
|
rs1454885062 CA349292835 |
649 | D>N | No |
ClinGen gnomAD |
|
|
rs769448613 CA1968226 |
650 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1968227 rs774684972 |
652 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1968228 rs746044191 |
654 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA60684205 rs777424993 |
655 | H>R | No |
ClinGen Ensembl |
|
|
rs772334241 CA1968247 |
658 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370411837 CA1968246 |
658 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180852168 CA349293015 |
659 | H>N | No |
ClinGen gnomAD |
|
|
CA349293029 rs1314767560 |
661 | L>V | No |
ClinGen TOPMed |
|
|
rs1481218056 CA349293061 |
664 | G>E | No |
ClinGen gnomAD |
|
|
CA349293063 rs1481218056 |
664 | G>V | No |
ClinGen gnomAD |
|
|
rs1559148854 CA349293090 |
667 | D>N | No |
ClinGen Ensembl |
|
|
rs747131422 CA1968252 |
668 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1968250 rs1380589527 |
668 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1466293721 CA349293120 |
669 | N>S | No |
ClinGen TOPMed |
|
|
rs777214842 CA1968254 |
671 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs762185559 CA1968255 |
673 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA60685828 rs373287282 |
674 | N>S | No |
ClinGen gnomAD |
|
|
CA349293205 rs1322141503 |
676 | K>R | No |
ClinGen Ensembl |
|
|
CA60685832 rs374492278 |
678 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA1968256 rs368884930 |
679 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300820442 CA349293247 |
680 | K>E | No |
ClinGen gnomAD |
|
|
rs773655560 CA1968257 |
682 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1968259 rs190444302 |
684 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1968260 rs200970506 |
687 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA1968262 rs766890965 |
695 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 695 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368015396 CA60685917 |
696 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA60686180 rs767064240 |
697 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968281 rs767064240 |
697 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349293544 rs1422527695 |
701 | P>L | No |
ClinGen gnomAD |
|
|
rs980473170 CA60686221 |
701 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 704 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764054938 CA1968284 |
707 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA60686265 rs1014025235 |
708 | Q>* | No |
ClinGen TOPMed |
|
|
CA349293678 rs1365581226 |
711 | I>F | No |
ClinGen TOPMed |
|
|
rs1386252231 CA349293682 |
711 | I>T | No |
ClinGen gnomAD |
|
|
rs13002726 CA60686277 |
714 | E>K | No |
ClinGen Ensembl |
|
|
rs1434048409 CA349293728 |
715 | I>V | No |
ClinGen gnomAD |
|
|
rs570215904 CA60686302 |
716 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1384938033 CA349293752 |
717 | V>A | No |
ClinGen gnomAD |
|
|
CA349293746 rs1337104316 |
717 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1394160630 CA349293759 |
718 | T>R | No |
ClinGen gnomAD |
|
|
CA60686322 rs377431475 |
721 | P>A | No |
ClinGen ESP TOPMed |
|
|
rs1559149218 CA349293808 |
722 | S>F | No |
ClinGen Ensembl |
|
|
CA349293814 rs1311470620 |
723 | N>T | No |
ClinGen gnomAD |
|
|
rs868839504 CA349293827 |
724 | P>L | No |
ClinGen TOPMed |
|
|
CA60686345 rs868839504 |
724 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 724 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1968287 rs778638154 |
727 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA60686378 rs960368364 |
728 | T>I | No |
ClinGen TOPMed |
|
|
CA349293867 rs1490120446 |
729 | K>N | No |
ClinGen TOPMed |
|
|
rs371857011 CA1968289 |
732 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371857011 CA349293884 |
732 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1968291 rs748244345 |
734 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA349293921 rs1553538962 |
737 | A>T | No |
ClinGen Ensembl |
|
|
rs756189482 CA1968292 |
740 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251410553 CA349293952 |
742 | T>A | No |
ClinGen gnomAD |
|
|
CA1968293 rs778476508 |
742 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1968294 rs778476508 |
742 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA349293959 rs1345209978 |
743 | F>S | No |
ClinGen TOPMed |
|
|
CA349293957 rs1222129405 |
743 | F>V | No |
ClinGen TOPMed |
|
|
CA1968296 rs774792278 |
744 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA349293966 rs774792278 |
744 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA349293979 rs1470399329 |
746 | T>I | No |
ClinGen gnomAD |
|
|
rs746228072 CA1968297 |
747 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA60686458 rs947201360 |
749 | Y>H | No |
ClinGen Ensembl |
|
|
CA349294001 rs1317068364 |
750 | S>T | No |
ClinGen TOPMed |
|
|
CA1968302 rs776579078 |
752 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs954760714 CA60686514 |
754 | E>G | No |
ClinGen TOPMed |
|
|
CA349294027 rs1574400613 |
754 | E>K | No |
ClinGen Ensembl |
|
|
CA1968303 rs761671363 |
755 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs767441690 CA60686518 |
758 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200765179 CA60686668 |
760 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1968324 rs773171825 |
763 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349294110 rs1419881953 |
764 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1419881953 CA349294111 |
764 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs142894108 CA1968325 |
765 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389070501 CA349294148 |
769 | Q>H | No |
ClinGen gnomAD |
|
|
rs756342336 CA1968328 |
772 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754034302 CA1968330 |
773 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA349294193 rs1461070126 |
776 | C>Y | No |
ClinGen TOPMed |
|
|
CA1968331 rs757377437 |
777 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968332 rs779334490 |
778 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349294205 rs779334490 |
778 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968334 rs576161901 |
779 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1968335 rs780396827 |
784 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA349294290 rs1457733970 |
788 | V>G | No |
ClinGen gnomAD |
|
|
CA349294302 rs1320246464 |
790 | F>C | No |
ClinGen gnomAD |
|
|
CA349294337 rs1223664692 |
795 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 795 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA60686863 rs758543051 |
796 | T>R | No |
ClinGen Ensembl |
|
|
CA349294346 rs1490996431 |
797 | T>P | No |
ClinGen TOPMed |
|
|
rs1244682736 CA349294381 |
802 | D>H | No |
ClinGen TOPMed |
|
|
CA349294393 rs1384195251 |
803 | T>I | No |
ClinGen gnomAD |
|
|
CA349294396 rs1353730085 |
804 | P>S | No |
ClinGen TOPMed |
|
|
CA1968351 rs762004166 |
805 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2737085 CA349294400 |
805 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1286572902 CA349294420 |
808 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA60686897 COSM1285603 rs1021042255 COSM1285604 |
811 | K>N | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1968353 rs750897577 |
814 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA60687093 rs755146280 |
815 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349294483 rs1177287863 |
816 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA60687112 rs866443376 |
819 | D>G | No |
ClinGen Ensembl |
|
|
rs759448459 CA1968366 |
824 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1282593533 CA349294548 |
825 | T>A | No |
ClinGen TOPMed |
|
|
rs1400477718 CA349294552 |
825 | T>I | No |
ClinGen TOPMed |
|
|
rs1387013542 CA349294553 |
826 | A>T | No |
ClinGen TOPMed |
|
|
rs771941288 CA1968367 |
826 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921776096 CA60687122 |
827 | K>E | No |
ClinGen TOPMed |
|
|
CA349294579 rs1471444063 |
830 | V>M | No |
ClinGen gnomAD |
|
|
rs531126224 CA1968369 |
831 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777021927 CA1968368 |
831 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA349294592 rs1479190432 |
832 | I>T | No |
ClinGen gnomAD |
|
|
CA349294627 rs374263738 |
838 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA60687201 rs374263738 |
838 | V>L | No |
ClinGen ESP gnomAD |
|
|
COSM1305855 rs755358939 CA1968375 COSM1305854 |
839 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1220412652 CA349294897 |
841 | V>L | No |
ClinGen gnomAD |
|
|
rs767885240 CA1968393 |
842 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA349294913 rs1227061253 |
843 | K>E | No |
ClinGen gnomAD |
|
|
rs753122198 CA1968394 |
849 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA349295019 rs144265145 |
852 | T>K | No |
ClinGen ESP |
|
|
CA1968395 rs756433566 |
852 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA60687385 rs144265145 |
852 | T>R | No |
ClinGen ESP |
|
|
CA1968398 rs753378795 |
853 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756820304 CA1968399 |
854 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1968401 rs745811870 |
856 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA60687437 rs879267073 |
857 | Q>R | No |
ClinGen Ensembl |
|
|
CA1968403 rs780135939 |
859 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968402 rs758466104 |
859 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746859959 CA1968404 |
862 | E>Q | No |
ClinGen ExAC |
|
|
CA349295157 rs1389794767 |
865 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM1148440 COSM717721 rs768314042 CA1968405 |
866 | G>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1362964471 CA349295228 |
871 | Y>C | No |
ClinGen gnomAD |
|
|
CA1968424 rs751405038 |
876 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374581804 CA1968425 |
878 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349295376 rs1211485592 |
879 | G>D | No |
ClinGen gnomAD |
|
|
CA60688441 rs771470186 |
881 | P>L | No |
ClinGen Ensembl |
|
|
CA60688446 rs991873836 |
882 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 882 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1968426 rs200289610 |
883 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349295415 rs200289610 |
883 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1968427 rs749541047 |
884 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1968429 rs779106452 |
886 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1136390 rs779823355 COSM1136391 CA349295452 |
887 | T>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349295476 rs1180272827 |
890 | L>V | No |
ClinGen gnomAD |
|
|
rs1421623791 CA349295496 |
891 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs548273156 CA1968431 |
893 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1968433 rs776091718 |
894 | W>R | No |
ClinGen ExAC TOPMed |
|
|
CA349295542 rs1272372821 |
895 | P>Q | No |
ClinGen TOPMed |
|
|
CA349295551 rs1418257885 |
896 | K>E | No |
ClinGen gnomAD |
|
|
rs369890727 CA1968434 |
899 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1968436 rs372607792 |
900 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349295639 rs1370620106 |
903 | W>* | No |
ClinGen gnomAD |
|
|
CA1968437 rs762231763 |
906 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1220198962 CA349295699 |
909 | K>E | No |
ClinGen gnomAD |
|
|
rs926125230 CA60688513 |
909 | K>R | No |
ClinGen gnomAD |
|
|
rs926125230 CA60688514 |
909 | K>T | No |
ClinGen gnomAD |
|
|
rs1303160181 CA349295708 |
910 | V>I | No |
ClinGen gnomAD |
|
|
rs1389010720 CA349295722 |
911 | E>A | No |
ClinGen Ensembl |
|
|
rs1310962622 CA349295728 |
911 | E>D | No |
ClinGen gnomAD |
|
|
CA1968439 rs765020821 |
912 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs936185243 CA60688520 |
914 | G>A | No |
ClinGen TOPMed |
|
|
CA1968441 rs762574217 |
920 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA349295858 rs1251404489 |
923 | Q>E | No |
ClinGen gnomAD |
|
|
CA1968443 rs140907663 |
926 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431421355 CA349295912 |
928 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1968444 rs754816673 |
928 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349295910 rs1431421355 |
928 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1559151408 COSM1136392 CA349295924 |
930 | N>D | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1559151408 CA349295922 |
930 | N>H | No |
ClinGen Ensembl |
|
|
rs781179877 CA1968445 |
932 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1367997523 CA349296301 |
933 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750653591 CA1968468 |
934 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1968469 rs552228865 |
935 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349296323 rs552228865 COSM3714039 |
935 | H>Y | upper_aerodigestive_tract oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA349296377 rs1288027725 |
939 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1048189769 CA60689443 |
941 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1559152489 CA349296398 |
942 | E>K | No |
ClinGen Ensembl |
|
|
rs755062022 CA1968472 |
943 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA349296476 rs1466252730 |
948 | I>V | No |
ClinGen gnomAD |
|
|
CA349296493 rs1241066003 |
949 | D>V | No |
ClinGen gnomAD |
|
|
rs748625476 CA1968474 |
950 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA349296519 rs1426388151 |
951 | N>S | No |
ClinGen gnomAD |
|
|
rs770287742 CA1968475 |
952 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 952 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773655628 CA1968476 |
953 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1968478 rs749659576 |
954 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349296563 rs1391267327 |
955 | S>P | No |
ClinGen gnomAD |
|
|
CA60689509 rs1026460633 |
956 | L>V | No |
ClinGen Ensembl |
|
|
rs1359545996 CA349296595 |
959 | E>K | No |
ClinGen gnomAD |
|
|
rs1003192964 CA60689523 |
963 | Q>* | No |
ClinGen TOPMed |
|
|
rs552516153 CA60689529 |
964 | T>A | No |
ClinGen Ensembl |
|
|
rs1360206709 CA349296647 |
964 | T>I | No |
ClinGen gnomAD |
|
|
rs770560239 CA1968479 |
965 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA60689574 rs111722287 |
966 | N>S | No |
ClinGen Ensembl |
|
|
rs756745084 CA1968494 |
967 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA60689595 rs776979348 |
968 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA349296715 rs1236646431 |
968 | S>N | No |
ClinGen gnomAD |
|
|
rs548520438 CA1968497 |
969 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1968499 rs201502347 |
971 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1968501 rs775035858 |
972 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349296800 rs1481835253 |
975 | N>T | No |
ClinGen gnomAD |
|
|
CA60689653 rs190209064 |
976 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA349296841 rs1485620968 |
979 | P>S | No |
ClinGen TOPMed |
|
|
CA349296852 rs1351826739 |
980 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 981 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1968507 rs377077160 |
981 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765042466 CA1968506 |
981 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA349296863 rs1574407133 |
982 | G>R | No |
ClinGen Ensembl |
|
|
rs373286090 CA1968510 |
984 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1968511 rs376474316 |
985 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 986 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331464932 CA349296929 |
987 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1968512 rs576830219 |
987 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1331464932 CA349296930 |
987 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA60689766 rs953949763 |
989 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757562675 CA1968514 |
990 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537546700 CA1968515 |
990 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556687135 CA1968516 |
992 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771270575 CA60689839 |
997 | N>K | No |
ClinGen gnomAD |
|
|
rs113510867 CA60689838 |
997 | N>S | No |
ClinGen Ensembl |
|
|
rs1197153183 CA349297059 |
999 | T>I | No |
ClinGen gnomAD |
|
|
CA60689846 rs1054765444 |
1000 | F>Y | No |
ClinGen TOPMed |
|
|
CA349297086 rs1190603693 |
1002 | E>K | No |
ClinGen gnomAD |
|
|
rs754514125 CA1968538 |
1004 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1399214002 CA349297186 |
1007 | L>P | No |
ClinGen Ensembl |
|
|
CA349297215 rs1162608274 |
1010 | L>M | No |
ClinGen gnomAD |
|
|
rs1371216561 CA349297229 |
1011 | D>Y | No |
ClinGen TOPMed |
|
|
rs1393439381 CA349297257 |
1014 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747588364 CA1968540 |
1014 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1968543 rs371735114 |
1015 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1312740536 CA349297282 |
1016 | A>G | No |
ClinGen gnomAD |
|
|
CA1968544 rs770788393 |
1016 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968545 rs770788393 |
1016 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349297288 rs1408998612 |
1017 | F>L | No |
ClinGen gnomAD |
|
|
CA349297297 rs201738305 |
1018 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA60689993 rs201738305 |
1018 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349297302 rs1231073982 |
1018 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201738305 CA1968546 |
1018 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349297336 rs1293127775 |
1022 | A>P | No |
ClinGen gnomAD |
|
|
rs1330219365 CA349297342 |
1022 | A>V | No |
ClinGen gnomAD |
|
|
rs1210923835 CA349297344 |
1023 | A>T | No |
ClinGen gnomAD |
|
|
COSM1401308 rs1485792506 CA349297362 |
1025 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1968548 rs377185471 |
1026 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs551025143 CA1968549 |
1027 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs368625569 CA349297389 |
1027 | I>N | No |
ClinGen ESP TOPMed |
|
|
rs368625569 CA60690007 |
1027 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs376601539 CA349297399 |
1029 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250690943 CA349297405 |
1030 | P>S | No |
ClinGen TOPMed |
|
|
rs188064664 CA1968551 |
1031 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1968552 rs758767272 |
1031 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs766690941 CA1968553 |
1033 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1968568 rs773801576 |
1036 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs763401432 CA1968569 |
1037 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1373015067 CA349297827 |
1037 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA349297825 rs1373015067 |
1037 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766848710 CA1968570 |
1038 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567133568 CA1968572 |
1040 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752231729 CA1968575 |
1044 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1047 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559157343 CA349298068 |
1048 | Q>R | No |
ClinGen Ensembl |
|
|
rs777103300 CA1968577 |
1050 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA349298134 rs1307129626 |
1051 | G>R | No |
ClinGen TOPMed |
|
|
CA1968579 rs745816451 |
1052 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968580 rs778993295 |
1058 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs745717763 CA1968581 |
1059 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1968582 rs771708961 |
1061 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781481774 CA1968583 |
1062 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369445235 CA349298355 |
1063 | A>G | No |
ClinGen gnomAD |
|
|
CA1968585 rs374953548 |
1063 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA60694303 rs1024802213 |
1065 | I>T | No |
ClinGen Ensembl |
|
|
rs1574416684 CA349298390 |
1065 | I>V | No |
ClinGen Ensembl |
|
|
CA60694312 rs978414226 |
1074 | I>M | No |
ClinGen Ensembl |
|
|
rs145028778 CA1968587 |
1074 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771493843 CA1968589 |
1075 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439692328 CA349300827 |
1081 | F>C | No |
ClinGen Ensembl |
|
|
rs762519702 CA1968642 |
1081 | F>L | No |
ClinGen ExAC |
|
|
rs766284463 CA1968643 |
1082 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274185685 CA349300876 |
1083 | R>C | No |
ClinGen gnomAD |
|
|
CA1968644 rs538125679 |
1083 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767257237 CA1968646 |
1087 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1031507552 CA60696923 |
1089 | S>N | No |
ClinGen TOPMed |
|
|
rs1031507552 CA349301032 |
1089 | S>T | No |
ClinGen TOPMed |
|
|
rs1347992432 CA349301099 |
1090 | V>D | No |
ClinGen TOPMed |
|
|
CA349301121 rs1167183085 |
1091 | P>H | No |
ClinGen gnomAD |
|
|
rs373209015 CA60696931 |
1091 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1968648 rs773696478 |
1092 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1968651 rs745998032 |
1092 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745998032 CA1968650 |
1092 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393589391 CA349301199 |
1094 | H>Y | No |
ClinGen gnomAD |
|
|
rs376629925 CA1968653 |
1096 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769167035 CA1968654 |
1097 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1968656 rs372761462 |
1099 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370676535 CA1968655 |
1099 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA349301495 rs1273139724 |
1103 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA349301494 rs1273139724 |
1103 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762381798 CA349301502 |
1103 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762381798 CA1968659 |
1103 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315910738 CA349301623 |
1106 | K>I | No |
ClinGen TOPMed |
|
|
CA349301762 rs1259723839 |
1108 | E>A | No |
ClinGen gnomAD |
|
|
rs1446684323 CA349301841 |
1111 | I>T | No |
ClinGen gnomAD |
|
|
CA349301878 rs1188900430 |
1113 | N>K | No |
ClinGen gnomAD |
|
|
rs774183567 CA1968661 |
1114 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA349301936 rs1224308742 |
1115 | E>* | No |
ClinGen Ensembl |
|
|
CA60696981 rs909434464 |
1115 | E>G | No |
ClinGen TOPMed |
|
| rs201055917 | 1117 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277446129 CA349302006 |
1118 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1968664 rs200141585 |
1119 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454236240 CA349302068 |
1119 | W>* | No |
ClinGen gnomAD |
|
|
rs767416687 CA1968665 |
1120 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs752525326 CA1968666 |
1122 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1381350773 CA349302183 |
1123 | W>C | No |
ClinGen gnomAD |
|
|
rs763492141 CA60696999 |
1125 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA349302273 rs1413323267 |
1126 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1355132115 CA349302261 |
1126 | N>S | No |
ClinGen gnomAD |
|
|
CA349302331 rs1318106385 |
1128 | S>R | No |
ClinGen gnomAD |
|
|
CA1968668 rs765462697 |
1130 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1241770098 CA349302372 |
1130 | S>P | No |
ClinGen gnomAD |
|
|
rs1211641879 CA349302398 |
1131 | S>Q | No |
ClinGen gnomAD |
|
|
CA1968670 rs374550213 |
1131 | S>W | No |
ClinGen ESP ExAC gnomAD |
1 associated diseases with P23229
[MIM: 619817]: Epidermolysis bullosa, junctional 6, with pyloric atresia (JEB6)
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. {ECO:0000269|PubMed:27607025, ECO:0000269|PubMed:9185503}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. {ECO:0000269|PubMed:27607025, ECO:0000269|PubMed:9185503}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for P23229
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | FG-GAP repeat | 355 - 393 | IPR013517-1 |
| repeat | FG-GAP repeat | 424 - 449 | IPR013517-2 |
| repeat | Integrin alpha beta-propellor | 30 - 101 | IPR013519-1 |
| repeat | Integrin alpha beta-propellor | 101 - 166 | IPR013519-2 |
| repeat | Integrin alpha beta-propellor | 293 - 342 | IPR013519-3 |
| repeat | Integrin alpha beta-propellor | 340 - 407 | IPR013519-4 |
| repeat | Integrin alpha beta-propellor | 403 - 522 | IPR013519-5 |
| domain | Integrin alpha-2 | 503 - 978 | IPR013649 |
| conserved_site | Integrin alpha chain, C-terminal cytoplasmic region, conserved site | 1076 - 1083 | IPR018184 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| integrin complex | A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| insulin-like growth factor I binding | Binding to insulin-like growth factor I. |
| integrin binding | Binding to an integrin. |
| metal ion binding | Binding to a metal ion. |
| neuregulin binding | Binding to a neuregulin, a member of the EGF family of growth factors. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion mediated by integrin | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| cell-substrate adhesion | The attachment of a cell to the underlying substrate via adhesion molecules. |
| cell-substrate junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between a cell and its substrate. |
| ectodermal cell differentiation | The process in which relatively unspecialized cells acquire specialized structural and/or functional features of an ectodermal cell. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| leukocyte migration | The movement of a leukocyte within or between different tissues and organs of the body. |
| nail development | The process whose specific outcome is the progression of a nail over time, from its formation to the mature structure. A nail is a horn-like envelope covering the outer end of a finger or toe, and consists of the nail plate, the nail matrix and the nail bed below it, and the grooves surrounding it. [GOC:bf, ISBN:0323025781, UBERON:0001705, Wikipedia:Nail_(anatomy)] |
| negative regulation of extrinsic apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| skin morphogenesis | The process in which the anatomical structures of the skin are generated and organized. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner, sensitive and vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAGQLCLL | YLSAGLLSRL | GAAFNLDTRE | DNVIRKYGDP | GSLFGFSLAM | HWQLQPEDKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLLVGAPRAE | ALPLQRANRT | GGLYSCDITA | RGPCTRIEFD | NDADPTSESK | EDQWMGVTVQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SQGPGGKVVT | CAHRYEKRQH | VNTKQESRDI | FGRCYVLSQN | LRIEDDMDGG | DWSFCDGRLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GHEKFGSCQQ | GVAATFTKDF | HYIVFGAPGT | YNWKGIVRVE | QKNNTFFDMN | IFEDGPYEVG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GETEHDESLV | PVPANSYLGL | LFLTSVSYTD | PDQFVYKTRP | PREQPDTFPD | VMMNSYLGFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LDSGKGIVSK | DEITFVSGAP | RANHSGAVVL | LKRDMKSAHL | LPEHIFDGEG | LASSFGYDVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VVDLNKDGWQ | DIVIGAPQYF | DRDGEVGGAV | YVYMNQQGRW | NNVKPIRLNG | TKDSMFGIAV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KNIGDINQDG | YPDIAVGAPY | DDLGKVFIYH | GSANGINTKP | TQVLKGISPY | FGYSIAGNMD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LDRNSYPDVA | VGSLSDSVTI | FRSRPVINIQ | KTITVTPNRI | DLRQKTACGA | PSGICLQVKS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CFEYTANPAG | YNPSISIVGT | LEAEKERRKS | GLSSRVQFRN | QGSEPKYTQE | LTLKRQKQKV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CMEETLWLQD | NIRDKLRPIP | ITASVEIQEP | SSRRRVNSLP | EVLPILNSDE | PKTAHIDVHF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LKEGCGDDNV | CNSNLKLEYK | FCTREGNQDK | FSYLPIQKGV | PELVLKDQKD | IALEITVTNS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PSNPRNPTKD | GDDAHEAKLI | ATFPDTLTYS | AYRELRAFPE | KQLSCVANQN | GSQADCELGN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PFKRNSNVTF | YLVLSTTEVT | FDTPDLDINL | KLETTSNQDN | LAPITAKAKV | VIELLLSVSG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VAKPSQVYFG | GTVVGEQAMK | SEDEVGSLIE | YEFRVINLGK | PLTNLGTATL | NIQWPKEISN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GKWLLYLVKV | ESKGLEKVTC | EPQKEINSLN | LTESHNSRKK | REITEKQIDD | NRKFSLFAER |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KYQTLNCSVN | VNCVNIRCPL | RGLDSKASLI | LRSRLWNSTF | LEEYSKLNYL | DILMRAFIDV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TAAAENIRLP | NAGTQVRVTV | FPSKTVAQYS | GVPWWIILVA | ILAGILMLAL | LVFILWKCGF |
| 1090 | 1100 | 1110 | 1120 | ||
| FKRSRYDDSV | PRYHAVRIRK | EEREIKDEKY | IDNLEKKQWI | TKWNENESYS |