|
DISORDER /
COMMON NAME
|
GENE
|
VARIANT
|
ALTERNATIVE
NOMENCLATURE
|
|
Factor V Leiden
|
F5
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
G1691A
F5, ARG506GLN
R506Q
Factor V Leiden
|
|
Factor V R2
|
F5
|
NM_000130.4(F5):c.3980A>G (p.His1327Arg)
|
FV R2 H1299R
A4070G
R2 allele
|
|
Factor XIII
|
F13A1
|
NM_000129.3(F13A1):c.103G>T (p.Val35Leu)
|
p.Val34Leu
F13A1
VAL34LEU
V34L
|
|
HPA-1
|
ITGB3
|
NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro)
|
L33P
|
|
HPA-2
|
GP1BA
|
NM_000173.7(GP1BA):c.482C>T (p.Thr161Met)
|
rs6065
|
|
HPA-3
|
ITGA2B
|
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser)
|
I843S
|
|
HPA-4
|
ITGB3
|
NM_000212.2(ITGB3):c.506G>A (p.Arg169Gln)
|
R143Q
|
|
HPA-5
|
ITGA2
|
NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys)
|
Not available
|
|
HPA-6
|
ITGB3
|
NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln)
|
R489Q
|
|
PAI-1 4G/5G
|
SERPINE1
|
NM_000602.5(SERPINE1):c.-820G[(4_5)]
|
4G/5G
|
|
MTHFR
|
MTHFR
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
C677T
MTHFR
677C-T
ALA222VAL (rs1801133)
|
|
MTHFR
|
MTHFR
|
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala)
|
MTHFR
1298A-C
A1298C
GLU429ALA (rs1801131)
|
|
MTHFR
|
MTHFR
|
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala)
|
MTHFR
1298A-C
A1298C
GLU429ALA (rs1801131)
|
|
ACE (I/D)
|
ACE
|
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1: g.14094_14382
|
ACE/ID polymorphism
INS/DEL (rs1799752)
|
|
Apo B
|
APOB
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
R3500Q
9775G>A
|
|
Apo E
|
APOE
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
R158C
R148C
|
|
Apo E
|
APOE
|
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
C112R
ApoE4
|
|
MTR
|
MTR
|
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly)
|
p.D919G:GAC>GGC
2756A-G
|
|
MTRR
|
MTRR
|
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)
|
p.I49M:ATA>ATG
|
|
AGT
|
AGT
|
NM_000029.4(AGT):c.803T>C (p.Met268Thr)
|
M235T
NM_000029.3:c.803T>C
|
|
AGTR1
|
AGTR1
|
NM_031850.3(AGTR1):c.*86A>C
|
A1166C
|
|
GSTP1
|
GSTP1
|
NM_000852.4(GSTP1):c.313A>G (p.Ile105Val)
|
rs1695
GSTP1*B
|
|
Prothrombin
|
F2
|
NM_000506.5(F2):c.*97G>A
|
F2 rs1799963
20210G-A
G20210A
|
