|
|
 ID
|
Chr
|
 Gene ID
|
Name
|
NCBI ID
|
NCBI Protein ID
|
Variants
|
| 00000052 |
11 |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
NM_000352.3 |
NP_000343.2 |
2 |
| 00000035 |
11 |
AIP |
aryl hydrocarbon receptor interacting protein |
NM_003977.2 |
NP_003968.2 |
2 |
| 00000036 |
11 |
ATM |
ataxia telangiectasia mutated |
NM_000051.3 |
NP_000042.3 |
2 |
| 00000020 |
13 |
ATP7B |
ATPase, Cu++ transporting, beta polypeptide, transcript variant 1 |
NM_000053.3 |
NP_000044.2 |
0 |
| 00000022 |
14 |
ATXN3 |
transcript variant reference |
NM_004993.5 |
NP_004984.2 |
0 |
| 00000051 |
3 |
BAP1 |
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) |
NM_004656.3 |
NP_004647.1 |
1 |
| 00000049 |
8 |
BLK |
B lymphoid tyrosine kinase |
NM_001715.2 |
NP_001706.2 |
1 |
| 00000003 |
17 |
BRCA1 |
breast cancer 1, early onset, transcript variant 1 |
NM_007294.3 |
NP_009225.1 |
13 |
| 00000002 |
13 |
BRCA2 |
breast cancer 2, early onset |
NM_000059.3 |
NP_000050.2 |
17 |
| 00000040 |
17 |
BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
NM_032043.2 |
NP_114432.2 |
1 |
| 00000045 |
16 |
CDH1 |
type 1, E-cadherin (epithelial) |
NM_004360.3 |
NP_004351.1 |
2 |
| 00000056 |
9 |
CEL |
carboxyl ester lipase |
NM_001807.4 |
NP_001798.2 |
1 |
| 00000005 |
7 |
CFTR |
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
NM_000492.3 |
NP_000483.3 |
3 |
| 00000008 |
22 |
CHEK2 |
transcript variant 1 |
NM_007194.3 |
NP_009125.1 |
6 |
| 00000060 |
2 |
COL5A2 |
collagen, type V, alpha 2 |
NM_000393.3 |
NP_000384.2 |
1 |
| 00000039 |
7 |
CPA1 |
carboxypeptidase A1 (pancreatic) |
NM_001868.2 |
NP_001859.1 |
1 |
| 00000025 |
6 |
CYP21A2 |
cytochrome P450, family 21, subfamily A, polypeptide 2, transcript variant 1 |
NM_000500.7 |
NP_000491.4 |
0 |
| 00000037 |
2 |
ERCC3 |
excision repair cross-complementing rodent repair deficiency, complementation group 3 |
NM_000122.1 |
NP_000113.1 |
2 |
| 00000053 |
16 |
FANCA |
Fanconi anemia, complementation group A, transcript variant 1 |
NM_000135.2 |
NP_000126.2 |
1 |
| 00000041 |
14 |
FANCM |
Fanconi anemia, complementation group M |
NM_020937.2 |
NP_065988.1 |
1 |
| 00000059 |
15 |
FBN1 |
fibrillin 1 |
NM_000138.4 |
NP_000129.3 |
2 |
| 00000028 |
4 |
FGFR3 |
transcript variant 1 |
NM_000142.4 |
NP_000133.1 |
0 |
| 00000029 |
7 |
GCK |
glucokinase (hexokinase 4), transcript variant 1 |
NM_000162.3 |
NP_000153.1 |
3 |
| 00000026 |
13 |
GJB2 |
gap junction protein, beta 2, 26kDa |
NM_004004.5 |
NP_003995.2 |
0 |
| 00000024 |
X |
GLA |
galactosidase, alpha |
NM_000169.2 |
NP_000160.1 |
0 |
| 00000030 |
16 |
HBA1 |
hemoglobin, alpha 1 |
NM_000558.3 |
NP_000549.1 |
0 |
| 00000031 |
16 |
HBA2 |
hemoglobin, alpha 2 |
NM_000517.4 |
NP_000508.1 |
1 |
| 00000027 |
11 |
HBB |
hemoglobin, beta |
NM_000518.4 |
NP_000509.1 |
0 |
| 00000014 |
12 |
HNF1A |
HNF1 homeobox A |
NM_000545.5 |
NP_000536.5 |
5 |
| 00000015 |
17 |
HNF1B |
transcript variant 1 |
NM_000458.2 |
NP_000449.1 |
1 |
| 00000004 |
20 |
HNF4A |
hepatocyte nuclear factor 4, alpha, transcript variant 4 |
NM_175914.4 |
NP_787110.2 |
2 |
| 00000054 |
12 |
KRAS |
Kirsten rat sarcoma viral oncogene homolog, transcript variant b |
NM_004985.3 |
NP_004976.2 |
2 |
| 00000055 |
12 |
KRAS |
Kirsten rat sarcoma viral oncogene homolog, transcript variant a |
NM_033360.2 |
NP_203524.1 |
2 |
| 00000058 |
18 |
LPIN2 |
lipin 2 |
NM_014646.2 |
NP_055461.1 |
1 |
| 00000018 |
X |
MECP2 |
methyl CpG binding protein 2 (Rett syndrome), transcript variant 1 |
NM_004992.3 |
NP_004983.1 |
0 |
| 00000023 |
16 |
MEFV |
transcript variant 1 |
NM_000243.2 |
NP_000234.1 |
0 |
| 00000044 |
7 |
MET |
met proto-oncogene, transcript variant 1 |
NM_001127500.1 |
NP_001120972.1 |
1 |
| 00000010 |
3 |
MLH1 |
colon cancer, nonpolyposis type 2 (E. coli), transcript variant 1 |
NM_000249.3 |
NP_000240.1 |
4 |
| 00000011 |
2 |
MSH2 |
colon cancer, nonpolyposis type 1 (E. coli), transcript variant 1 |
NM_000251.2 |
NP_000242.1 |
4 |
| 00000013 |
2 |
MSH6 |
mutS homolog 6 (E. coli), transcript variant 1 |
NM_000179.2 |
NP_000170.1 |
3 |
| 00000050 |
1 |
MUTYH |
mutY homolog (E. coli), transcript variant alpha5 |
NM_001128425.1 |
NP_001121897.1 |
2 |
| 00000047 |
2 |
NEUROD1 |
neuronal differentiation 1 |
NM_002500.4 |
NP_002491.2 |
1 |
| 00000042 |
17 |
NF1 |
transcript variant 2 |
NM_000267.3 |
NP_000258.1 |
7 |
| 00000057 |
16 |
NOD2 |
nucleotide-binding oligomerization domain containing 2 |
NM_022162.1 |
NP_071445.1 |
1 |
| 00000009 |
16 |
PALB2 |
partner and localizer of BRCA2 |
NM_024675.3 |
NP_078951.2 |
3 |
| 00000048 |
7 |
PAX4 |
paired box 4 |
NM_006193.2 |
NP_006184.2 |
0 |
| 00000032 |
7 |
PMS2 |
PMS2 postmeiotic segregation increased 2 (S. cerevisiae), transcript variant 1 |
NM_000535.5 |
NP_000526.1 |
3 |
| 00000016 |
2 |
PROC |
protein C (inactivator of coagulation factors Va and VIIIa) |
NM_000312.3 |
NP_000303.1 |
1 |
| 00000017 |
3 |
PROS1 |
protein S (alpha) |
NM_000313.3 |
NP_000304.2 |
2 |
| 00000033 |
7 |
PRSS1 |
protease, serine, 1 (trypsin 1) |
NM_002769.4 |
NP_002760.1 |
0 |
| 00000043 |
9 |
PTCH1 |
transcript variant 1a |
NM_001083602.1 |
NP_001077071.1 |
1 |
| 00000019 |
12 |
PTPN11 |
transcript variant 1 |
NM_002834.3 |
NP_002825.3 |
0 |
| 00000006 |
17 |
RAD51C |
transcript variant 1 |
NM_058216.2 |
NP_478123.1 |
3 |
| 00000007 |
17 |
RAD51D |
transcript variant 1 |
NM_002878.3 |
NP_002869.3 |
1 |
| 00000038 |
1 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
NM_003000.2 |
NP_002991.2 |
1 |
| 00000021 |
X |
SHOX |
transcript variant 1 |
NM_000451.3 |
NP_000442.1 |
0 |
| 00000034 |
5 |
SPINK1 |
serine peptidase inhibitor, Kazal type 1 |
NM_003122.3 |
NP_003113.2 |
0 |
| 00000046 |
19 |
STK11 |
serine/threonine kinase 11 |
NM_000455.4 |
NP_000446.1 |
1 |
| 00000012 |
17 |
TP53 |
transcript variant 1 |
NM_000546.5 |
NP_000537.3 |
4 |
|
|
