|
|
Allele
|
Protein
|
Nucleotide
changes,
Gene M33388*
*Contains sequencing errors. AY545216 represents
CYP2D6*1 without sequencing errors; positions after 600 in M33388 should be
numbered with -1 nucleotide (601delC), positions after 1330 with 0 nucleotides
(1330_1331insG), and positions after 1439 with +1
nucleotide (1439_1440insC) as compared with AY545216. CG at position
1289-90 should read GC. All positions in the table are
numbered according to M33388.
|
Region sequenced
|
XbaI haplotype (kb)
|
Trivial name
|
Effect
|
Enzyme activity
|
References
|
In vivo
|
In vitro
|
CYP2D6*1A
|
CYP2D6.1
|
None
|
|
29
|
Wild-type
|
|
Normal
|
Normal
|
Kimura
et al., 1989
|
CYP2D6*1B
|
CYP2D6.1
|
3828G>A
|
|
29
|
|
|
Normal
(d, s)
|
|
Marez et al., 1997
|
CYP2D6*1C
|
CYP2D6.1
|
1978C>T
|
|
|
M4
|
|
Normal (s)
|
|
Marez et al., 1997
|
CYP2D6*1D
|
CYP2D6.1
|
2575C>A
|
|
|
M5
|
|
|
|
Marez et al., 1997
|
CYP2D6*1E
|
CYP2D6.1
|
1869T>C
|
|
|
|
|
|
|
Sachse et al.,
1997
|
CYP2D6*1XN
|
CYP2D6.1
|
|
|
42
|
|
N active
genes
|
Incr
|
|
Dahl et al., 1995
Sachse et al., 1997
|
CYP2D6*2A
|
CYP2D6.2
|
-1584C>G; -1235A>G; -740C>T;
-678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 4180G>C
|
|
29
|
CYP2D6L
|
R296C; S486T
|
Normal
(dx,d,s)
|
Normal (b, dx)
|
Johansson et al., 1993
Panserat et al., 1994
Raimundo et al., 2000
Sakuyama et al., 2008
See also comment below the table.
|
CYP2D6*2B
|
CYP2D6.2
|
1039C>T; 1661G>C; 2850C>T; 4180G>C
|
|
|
|
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*2C
|
CYP2D6.2
|
1661G>C; 2470T>C; 2850C>T; 4180G>C
|
|
|
|
R296C; S486T
|
|
|
Marez et al., 1997
Sachse et al., 1997
|
CYP2D6*2D
|
CYP2D6.2
|
2850C>T; 4180G>C
|
|
|
M10
|
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*2E
|
CYP2D6.2
|
997C>G; 1661G>C; 2850C>T; 4180G>C
|
|
|
M12
|
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*2F
|
CYP2D6.2
|
1661G>C; 1724C>T; 2850C>T; 4180G>C
|
|
|
M14
|
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*2G
|
CYP2D6.2
|
1661G>C; 2470T>C; 2575C>A; 2850C>T; 4180G>C
|
|
|
M16
|
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*2H
|
CYP2D6.2
|
1661G>C; 2480C>T; 2850C>T; 4180G>C
|
|
|
M17
|
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*2J
|
|
See CYP2D6*59
|
|
|
|
|
|
|
|
CYP2D6*2K
|
CYP2D6.2
|
1661G>C; 2850C>T; 4115C>T; 4180G>C
|
|
|
M21
|
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*2L
(formerly CYP2D6*41B)
|
CYP2D6.2
|
-1298G>A; -1235A>G;
-740C>T; 310G>T; 746C>G; 843T>G; 1513C>T; 1661G>C;
1757C>T; 2850C>T; 3384A>C; 3584G>A;
3790C>T; 4180G>C
|
|
|
|
R296C; S486T
|
|
|
Gaedigk
et al., 2005a
|
CYP2D6*2M
|
CYP2D6.2
|
Variable number of As in the region -1258 to -1237a; -1235A>G; -750_-749delGA;
-740C>T; -678G>A; CYP2D7 gene conversion in intron 1;
310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C;
3584G>A; 3790C>T; 4180G>C; 4481G>A
|
|
|
|
R296C; S486T
|
|
|
Gaedigk
et al., 2005b
|
CYP2D6*2XN
(N=2, 3, 4, 5 or 13)
|
CYP2D6.2
|
1661G>C; 2850C>T; 4180G>C
|
|
42-175
|
|
R296C; S486T;
N active genes
|
Incr
(d)
|
|
Johansson et al., 1993
Dahl et al., 1995
Aklillu et al., 1996
|
CYP2D6*2T
|
CYP2D6.2T
|
Soon to be released
|
|
|
|
|
|
|
|
CYP2D6*3A
|
|
2549delA
|
|
29
|
CYP2D6A
|
259Frameshift
|
None
(d, s)
|
None
(b)
|
Kagimoto et al., 1990
|
CYP2D6*3B
|
|
1749A>G;
2549delA
|
|
|
|
N166D;
259Frameshift
|
|
|
Marez et al., 1997
|
CYP2D6*4A
|
|
100C>T; 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A; 4180G>C
|
|
44, 29, 16+9
|
CYP2D6B
|
P34S; L91M; H94R; splicing defect; S486T
|
None
(d, s)
|
None
(b)
|
Kagimoto et al., 1990
Gough et al., 1990
Hanioka et al., 1990
|
CYP2D6*4B
|
|
100C>T; 974C>A; 984A>G; 997C>G; 1846G>A; 4180G>C
|
|
29
|
CYP2D6B
|
P34S; L91M; H94R; splicing defect; S486T
|
None
(d, s)
|
None
(b)
|
Kagimoto et al., 1990
|
CYP2D6*4C
|
|
100C>T; 1661G>C; 1846G>A; 3887T>C; 4180G>C
|
|
44/29
|
K29-1
|
P34S; splicing defect; L421P; S486T
|
None
|
|
Yokota et al., 1993
|
CYP2D6*4D
|
|
100C>T; 1039C>T;
1661G>C; 1846G>A; 4180G>C
|
|
|
|
P34S; splicing defect; S486T
|
None (dx)
|
|
Marez et al., 1997
|
CYP2D6*4E
|
|
100C>T;
1661G>C; 1846G>A;
4180G>C
|
|
|
|
P34S; splicing defect; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*4F
|
|
100C>T; 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A; 1858C>T;
4180G>C
|
|
|
|
P34S; L91M; H94R; splicing defect; R173C;
S486T
|
|
|
Marez et al., 1997
|
CYP2D6*4G
|
|
100C>T; 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A; 2938C>T;
4180G>C
|
|
|
|
P34S; L91M; H94R; splicing defect; P325L; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*4H
|
|
100C>T; 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A; 3877G>C; 4180G>C
|
|
|
|
P34S; L91M; H94R; splicing defect; E418Q; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*4J
|
|
100C>T; 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A
|
|
|
|
P34S; L91M; H94R; splicing defect
|
|
|
Marez et al., 1997
|
CYP2D6*4K
|
|
100C>T; 1661G>C; 1846G>A; 2850C>T; 4180G>C
|
|
|
|
P34S; splicing defect; R296C; S486T
|
None
|
|
Sachse et al., 1997
|
CYP2D6*4L
|
|
100C>T; 997C>G;
1661G>C; 1846G>A; 4180G>C
|
|
|
|
P34S; splicing defect; S486T
|
|
|
Shimada et al., 2001
|
CYP2D6*4M
|
|
-1235A>G; 746C>G; 843T>G 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A; 2097A>G;
3384A>C; 3582A>G; 4401C>T
|
|
|
|
L91M; H94R; splicing defect
|
|
|
Agundez at el., 1997
Fuselli et al., 2004
Gaedigk et al., 2006
|
CYP2D6*4N
Found in a gene duplication
|
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
746C>G; 843T>G; 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A; 2097A>G;
3384A>C; 3582A>G; gene conversion to CYP2D7 in exon 9; 4180G>C; 4401C>T
|
|
|
|
P34S; L91M; H94R; splicing defect; P469A; T470A;
H478S; G479R; F481V; A482S; S486T
|
|
|
Gaedigk
et al., 2006
|
CYP2D6*4P
|
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
746C>G; 843T>G; 974C>A; 984A>G; 997C>G;
1661G>C; 1846G>A; 2097A>G;
2576C>T; 3384A>C; 3435C>A; 3582A>G; 4180G>C; 4401C>T
|
|
|
|
P34S; L91M; H94R; splicing defect; P268S;
S486T
|
|
|
Dodgen
et al., 2013
|
CYP2D6*4X2
|
|
|
|
32+9
|
|
|
None
|
|
Løvlie et al., 1997
Sachse et al., 1998
|
CYP2D6*5
|
|
CYP2D6 deleted
|
|
11.5 or 13
|
CYP2D6D
|
CYP2D6 deleted
|
None
(d, s)
|
|
Gaedigk et al., 1991
Steen et al., 1995
|
CYP2D6*6A
|
|
1707delT
|
|
29
|
CYP2D6T
|
118Frameshift
|
None
(d, dx)
|
|
Saxena et al., 1994
|
CYP2D6*6B
|
|
1707delT; 1976G>A
|
|
29
|
|
118Frameshift
|
None
(s, d)
|
|
Evert et al., 1994
Daly et al., 1995
|
CYP2D6*6C
|
|
1707delT; 1976G>A; 4180G>C
|
|
|
|
118Frameshift
|
None (s)
|
|
Marez et al., 1997
|
CYP2D6*6D
|
|
1707delT; 3288G>A
|
|
|
|
118Frameshift
|
|
|
Marez et al., 1997
|
CYP2D6*7
|
CYP2D6.7
|
2935A>C
|
|
29
|
CYP2D6E
|
H324P
|
None
(s)
|
|
Evert
et al., 1994
|
CYP2D6*8
|
|
1661G>C; 1758G>T;
2850C>T; 4180G>C
|
|
|
CYP2D6G
|
G169X
|
None
(d, s)
|
|
Broly et al., 1995
|
CYP2D6*9
|
CYP2D6.9
|
2615_2617delAAG
|
|
29
|
CYP2D6C
|
K281del
|
Decr
(b,s,d)
|
Decr
(b,s,d)
|
Tyndale et al., 1991
Broly & Meyer, 1993
|
CYP2D6*9x2
|
CYP2D6.9
|
2615_2617delAAG
|
|
|
|
K281del
|
|
|
Gaedigk et al., 2011b
|
CYP2D6*10A
|
CYP2D6.10
|
100C>T; 1661G>C; 4180G>C
|
|
44, 29
|
CYP2D6J
|
P34S; S486T
|
Decr
(s)
|
Decr (b, dx)
|
Yokota et al., 1993
Sakuyama et al., 2008
|
CYP2D6*10B
|
CYP2D6.10
|
-1426C>T; variable number of As in the region -1258 to
-1237a; -1235A>G; -1000G>A; 100C>T; 1039C>T;
1661G>C; 4180G>C
|
|
44, 29
|
CYP2D6Ch1
|
P34S; S486T
|
Decr
(d)
|
Decr
(b)
|
Johansson
et al., 1994
|
CYP2D6*10C
|
|
see CYP2D6*36
|
CYP2D6*10D
|
CYP2D6.10
|
100C>T; 1039C>T;
1661G>C; 4180G>C, CYP2D7-like
3'-flanking region
|
|
46
|
|
P34S; S486T
|
|
|
Ishiguro et al., 2004
|
CYP2D6*10X2
|
CYP2D6.10
|
|
|
42
|
|
|
Decr
(dx)
|
|
Garcia-Barceló et al., 2000
Ji et al., 2002
Mitsunaga et al., 2002
Ishiguro et al., 2004
|
CYP2D6*11
|
|
883G>C; 1661G>C; 2850C>T; 4180G>C
|
|
29
|
CYP2D6F
|
Splicing defect; R296C; S486T
|
None
(s)
|
|
Marez et al., 1995
|
Example of a fully sequenced CYP2D6*11 allele
|
-1770G>A;
-1584C>G; -1235A>G; -740C>T; -678G>A; intron 1 conversion with
CYP2D7 (214-245); 310G>T;
746C>G; 843T>G; 883G>C; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C; 4481G>A
|
Up to -1887 (Chr22(GRCh37):g.42528685-42521828)
|
|
|
|
|
|
Skierka et al., 2012
|
CYP2D6*12
|
CYP2D6.12
|
124G>A; 1661G>C; 2850C>T; 4180G>C
|
|
29
|
|
G42R; R296C; S486T
|
None
(s)
|
|
Marez et al., 1996
|
CYP2D6*13 alleles
|
|
|
All CYP2D6*13 alleles share a CYP2D7/2D6
hybrid gene structure, with CYP2D7 sequence in exon 1 leading to
an insertion (137_138insT) and frameshift of the open reading frame, thereby obliterating
enzyme activity.
The following GenBank
entries of CYP2D7/2D6 hybrid allelic variants all share a CYP2D7-derived
exon 1 with the detrimental T-insertion, but differ in respect to the
region in which CYP2D7 switches to CYP2D6.
Some switch regions contain sequences
that may be interrelated as CYP2D6 or CYP2D7; therefore, exact switch
regions cannot be determined or remain open to interpretation.
There is no diagnostic SNP for CYP2D6*13, and thus
assigning it is best done by sequencing the entire gene region.
See Sim et al., 2012 for more information.
|
Frameshift
|
None
|
|
Panserat et al., 1995
|
|
|
Genbank
accession number
|
|
Sequence description
|
|
|
|
EU098008
(Originally called CYP2D6*13, temporarily called CYP2D6*13A1)
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 1.
Found as a single gene or in tandem
arrangements with one or multiple CYP2D6*1.
|
Panserat et al., 1995
Black et al., 2012
|
|
|
GQ162807
(Originally called CYP2D6*77, temporarily called CYP2D6*13A2)
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 1.
Switch region downstream compared to that of EU098008. Found in a tandem arrangement with
CYP2D6*2.
|
Gaedigk
et al., 2010a
|
|
|
HM641839
(Originally called CYP2D6*79, temporarily called CYP2D6*13B)
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 2.
Found as a single gene and in a tandem arrangement
with CYP2D6*2.
|
Gaedigk
et al., 2010b
|
|
|
HM641840
(Originally called CYP2D6*80, temporarily called CYP2D6*13C)
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 2-exon 3.
Found as a single gene.
|
Gaedigk
et al., 2010b
|
|
|
GQ162808
(Originally called CYP2D6*78, temporarily called CYP2D6*13D)
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 4.
Found in tandem arrangement with CYP2D6*2.
|
Gaedigk
et al., 2010a
|
|
|
EU098009
(Originally called CYP2D6*67, temporarily called CYP2D6*13E)
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 5.
Found as a single gene.
|
Gaedigk
et al., 2010b
|
|
|
EU093102
(Originally called CYP2D6*16 and CYP2D6*66,
temporarily called CYP2D6*13F)
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 7-intron 8.
Variants of this hybrid exist which have the same switch region
characteristics, but differ by one or a few nucleotides.
Found as a single gene.
|
Daly et al., 1996
Gaedigk et al., 2008a
|
|
|
JN618990
(Temporarily called CYP2D6*13G1)
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 7.
Found as a single gene.
|
Black et al., 2012
|
|
|
HQ670229
(Temporarily called CYP2D6*13G2)
|
|
CYP2D7/2D6 hybrid gene with switch
region in intron 7.
Found as a single gene.
|
Black et al., 2012
|
|
|
GQ162806
(Originally called CYP2D6*76, temporarily called CYP2D6*13H)
|
|
CYP2D7/2D6 hybrid gene with switch
region in exon 9.
Found in tandem arrangement with CYP2D6*1.
|
Gaedigk
et al., 2010a
|
Continuing
Allele
|
Protein
|
Nucleotide changes
|
|
XbaI hap
|
Trivial name
|
Effect
|
In vivo
|
In vitro
|
|
CYP2D6*14A
|
CYP2D6.14A
|
100C>T;
1758G>A; 2850C>T; 4180G>C
|
|
29
|
|
P34S; G169R; R296C; S486T
|
None
(d)
|
None (b, dx)
|
Wang, 1992
Wang et al., 1999
Sakuyama et al., 2008
|
CYP2D6*14B
|
CYP2D6.14B
|
intron 1 conversion with CYP2D7 (214-245); 1661G>C; 1758G>A; 2850C>T; 4180G>C
|
|
|
|
G169R; R296C; S486T
|
|
Decr (b)
|
Ji et al., 2002
Sakuyama et al., 2008
|
CYP2D6*15
|
|
137_138insT
|
|
29
|
|
46Frameshift
|
None
(d, dx)
|
|
Sachse et al., 1996
|
CYP2D6*16
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*17
|
CYP2D6.17
|
1023C>T; 1661G>C; 2850C>T; 4180G>C
|
|
29
|
CYP2D6Z
|
T107I; R296C; S486T
|
Decr
(d)
|
Decr
(b)
|
Masimirembwa et al., 1996
Oscarson
et al., 1997
|
CYP2D6*17XN
|
CYP2D6.17
|
|
|
|
|
|
|
|
Cai
et al., 2006
|
CYP2D6*18
|
CYP2D6.18
|
4125_4133dupGTGCCCACT
|
|
29
|
CYP2D6(J9)
|
468_470dupVPT
|
None (s)
|
Decr (b, dx)
|
Yokoi
et al., 1996
Sakuyama et al., 2008
|
CYP2D6*19
|
|
1661G>C; 2539_2542delAACT;
2850C>T; 4180G>C
|
|
|
|
255Frameshift
|
None
|
|
Marez et al., 1997
|
CYP2D6*20
|
|
1661G>C; 1973_1974insG; 1978C>T;
1979T>C; 2850C>T; 4180G>C
|
|
|
|
211Frameshift
|
None (m)
|
|
Marez-Allorge et al., 1999
|
CYP2D6*21A
|
|
-1584C>G; -1426C>T; variable number of As in the region -1258
to -1237a; -1235A>G; -740C>T; -678G>A; -629A>G;
214G>C; 221C>A; 223C>G; 227T>C;
310G>T; 601delC; 1661G>C; 2573_2574insC; 2850C>T; 3584G>A; 4180G>C
|
|
|
|
267Frameshift
|
None
|
|
Chida et al., 1999
|
CYP2D6*21B
|
|
-1584C>G; -1235A>G;
-740C>T; -678G>A; intron 1 conversion with CYP2D7
(214-245); 1661G>C; 2573_2574insC; 2850C>T; 4180G>C
|
|
|
|
267Frameshift
|
None
|
|
Yamazaki et al., 2003
More detailed information submitted
7-May-2002 by
Dr. Jae-Gook Shin.
|
CYP2D6*22
|
CYP2D6.22
|
82C>T
|
|
|
M2
|
R28C
|
|
|
Marez et al., 1997
|
CYP2D6*23
|
CYP2D6.23
|
957C>T
|
|
|
M3
|
A85V
|
|
|
Marez et al., 1997
|
CYP2D6*24
|
CYP2D6.24
|
2853A>C
|
|
|
M6
|
I297L
|
|
|
Marez et al., 1997
|
CYP2D6*25
|
CYP2D6.25
|
3198C>G
|
|
|
M7
|
R343G
|
|
|
Marez et al., 1997
|
CYP2D6*26
|
CYP2D6.26
|
3277T>C
|
|
|
M8
|
I369T
|
|
|
Marez et al., 1997
|
CYP2D6*27
|
CYP2D6.27
|
3853G>A
|
|
|
M9
|
E410K
|
|
Normal (b, dx)
|
Marez et al., 1997
Sakuyama et al., 2008
|
CYP2D6*28
|
CYP2D6.28
|
19G>A; 1661G>C; 1704C>G; 2850C>T; 4180G>C
|
|
|
M11
|
V7M;
Q151E;
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*29
|
CYP2D6.29
|
1659G>A; 1661G>C; 2850C>T; 3183G>A; 4180G>C
|
|
|
M13
|
V136I;
R296C; V338M; S486T
|
Decr.
|
Decr.
|
Marez et al., 1997
Wennerholm et al., 2001
Wennerholm et al., 2002
|
CYP2D6*30
|
CYP2D6.30
|
1661G>C; 1863_1864insTTTCGCCCC;
2850C>T; 4180G>C
|
|
|
M15
|
174_175insFRP;
R296C; S486T
|
|
|
Marez et al., 1997
|
CYP2D6*31
|
CYP2D6.31
|
-1770G>A; -1584C>G; -1235A>G;
-740C>T; -678G>A; CYP2D7 gene conversion in intron 1;
310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4042G>A; 4180G>C; 4481G>A
|
|
|
M20
|
R296C; R440H; S486T
|
None
|
None
|
Marez et al., 1997
Allorge
et al., 2005
Gaedigk et al.,
2010a
|
CYP2D6*32
|
CYP2D6.32
|
1661G>C; 2850C>T; 3853G>A;
4180G>C
|
|
|
M19
|
R296C; E410K;
S486T
|
|
|
Marez et al., 1997
|
CYP2D6*33
|
CYP2D6.33
|
2483G>T
|
|
|
CYP2D6*1C
|
A237S
|
Normal (s)
|
|
Marez et al., 1997
|
CYP2D6*34
|
CYP2D6.34
|
2850C>T
|
|
|
CYP2D6*1D
|
R296C
|
|
|
Marez et al., 1997
|
CYP2D6*35A
|
CYP2D6.35
|
-1584C>G; 31G>A; 1661G>C; 2850C>T; 4180G>C
|
|
|
CYP2D6*2B
|
V11M; R296C; S486T
|
Normal (s)
|
|
Marez et al., 1997
Gaedigk et al., 2003a
|
CYP2D6*35B
|
CYP2D6.35
|
-1770G>A; -1584C>G; -1235A>G; -740C>T; -678G>A; CYP2D7 conversion upstream of exon 1 (-225 to -431); -138A>G; 31G>A; 310G>T;
746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C;
3584G>A; 3790C>T; 4180G>C; 4481G>A
|
|
|
|
V11M; R296C; S486T
|
|
|
Gaedigk
et al., 2010b
|
CYP2D6*35X2
|
CYP2D6.35
|
31G>A; 1661G>C; 2850C>T; 4180G>C
|
|
|
|
V11M; R296C; S486T
|
Incr
|
|
Griese et al., 1998
|
CYP2D6*36
Dupl. or tandem
|
CYP2D6.36
|
-1426C>T; variable number of As in the region -1258 to -1237a;
-1235A>G; -1000G>A; 100C>T; 1039C>T;
1661G>C; gene conversion to CYP2D7 in exon 9; 4180G>C
|
|
44, 29
|
CYP2D6Ch2
|
P34S; P469A; T470A;
H478S; G479R; F481V; A482S; S486T
|
Negligible
(d)
|
Negligible
(b)
|
Wang, 1992
Johansson
et al., 1994
Leathart et al., 1998
|
CYP2D6*36
Single
|
CYP2D6.36
|
-1426C>T; -1235A>G;
-1000G>A; 100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 2097A>G; 3384A>C; 3582A>G; gene
conversion to CYP2D7 in exon 9; 4180G>C
|
|
|
|
P34S; P469A; T470A;
H478S; G479R; F481V; A482S; S486T
|
Negligible
(d)
|
Negligible (b, dx)
|
Gaedigk et al., 2006
Sakuyama et al., 2008
|
CYP2D6*37
|
CYP2D6.37
|
100C>T; 1039C>T;
1661G>C; 1943G>A;
4180G>C;
|
|
|
CYP2D6*10D
|
P34S; R201H;
S486T
|
|
|
Marez et al., 1997
|
CYP2D6*38
|
|
2587_2590delGACT
|
|
|
N2
|
271Frameshift
|
None
|
|
Leathart et al., 1998
|
CYP2D6*39
|
CYP2D6.39
|
1661G>C; 4180G>C
|
|
|
|
S486T
|
|
Normal (b, dx)
|
Shimada et al., 2001
Sakuyama et al., 2008
|
CYP2D6*40
|
CYP2D6.40
|
1023C>T; 1661G>C; 1863_1864insTTTCGCCCCx2;
2850C>T; 4180G>C
|
|
|
|
T107I; 174_175insFRPx2; R296C; S486T
|
None (dx)
|
|
Gaedigk
et al., 2002
|
CYP2D6*41
|
CYP2D6.2
|
-1235A>G; -740C>T;
-678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 2988G>A; 4180G>C
|
|
|
|
R296C; splicing defect; S486T
|
Decr (s)
|
Decr
|
Raimundo et al., 2000
Raimundo et al., 2004
Toscano et al., 2006
Rau et al., 2006
|
CYP2D6*42
|
|
1661G>C; 2850C>T; 3259_3260insGT;
4180G>C
|
|
|
|
R296C; 363Frameshift
|
None (dx)
|
|
Gaedigk
et al., 2003b
|
CYP2D6*43
|
CYP2D6.43
|
77G>A
|
|
|
M1
|
R26H
|
|
|
Marez et al, 1997
|
CYP2D6*44
|
|
82C>T; 2950G>C
|
|
|
|
Splicing defect
|
None
|
|
Yamazaki
et al., 2003
|
CYP2D6*45A
|
CYP2D6.45
|
-1601_-1600GA>TT; variable number of As in
the region -1258 to -1237a; -1094_-1093insA;
-1011T>C; 310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2129A>C;
2575C>A; 2661G>A; 2850C>T; 3254T>C; 3384A>C;
3584G>A; 3790C>T; 4180G>C
|
|
|
|
E155K; R296C; S486T
|
Functional (normal or decreased)
|
|
Gaedigk
et al., 2005a
|
CYP2D6*45B
|
CYP2D6.45
|
-1543G>A; -1298G>A;
-1235A>G; -1094_-1093insA;
-740C>T; -695_-692delTGTG; 310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2575C>A;
2661G>A; 2850C>T; 3254T>C; 3384A>C;
3584G>A; 3790C>T; 4180G>C
|
|
|
|
E155K; R296C; S486T
|
Functional (normal or decreased)
|
|
Gaedigk
et al., 2005a
|
CYP2D6*46
|
CYP2D6.46
|
-1543G>A; -1298G>A;
-1235A>G; -740C>T; 77G>A; 310G>T;
746C>G; 843T>G; 1661G>C; 1716G>A; 2575C>A;
2661G>A; 2850C>T;
3030G>G/A*; 3254T>C; 3384A>C; 3491G>A; 3584G>A; 3790C>T; 4180G>C
*Both haplotypes have been described (Gaedigk et al. 2005a)
|
|
|
|
R26H; E155K; R296C; S486T
|
Functional (normal or decreased)
|
|
Gaedigk
et al., 2005a
|
CYP2D6*47
|
CYP2D6.47
|
-1426C>T; -1235A>G; -1000G>A; 73C<T; 100C>T; 1039C>T;
1661G>C; 4180G>C
|
|
|
|
R25W; P34S;
S486T
|
|
Negligible (b, dx)
|
Soyama et al., 2004
Sakuyama et al., 2008
|
CYP2D6*48
|
CYP2D6.48
|
972C>T
|
|
|
|
A90V
|
|
Normal (b, dx)
|
Soyama et al., 2004
Sakuyama et al., 2008
|
CYP2D6*49
|
CYP2D6.49
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 1039C>T; 1611T>A; 1661G>C; 4180G>C
|
|
|
|
P34S; F120I; S486T
|
|
Decr. (b, dx)
|
Soyama et al.,
2004
Matsunaga et al., 2009
Sakuyama et al., 2008
|
CYP2D6*50
|
CYP2D6.50
|
1720A>C
|
|
|
|
E156A
|
|
Decr (b, dx)
|
Soyama et al., 2004
Sakuyama et al., 2008
|
CYP2D6*51
|
CYP2D6.51
|
-1584C>G; -1235A>G; -740C>T; -678G>A; CYP2D7
gene conversion in intron 1; 1661G>C; 2850C>T; 3172A>C; 4180G>C
|
|
|
|
R296C; E334A;
S486T
|
|
Negligible (b, dx)
|
Soyama et al., 2004
Sakuyama et al., 2008
|
CYP2D6*52
|
CYP2D6.52
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 1039C>T;
1661G>C; 3877G>A; 4180G>C; 4401C>T
|
|
|
|
P34S; E418K; S486T
|
|
|
Lee
et al., 2009
|
CYP2D6*53
|
CYP2D6.53
|
1598A>G; 1611T>A;
1617G>T
|
|
|
|
F120I; A122S
|
|
Incr (b, dx)
|
Ebisawa et al., 2005
Sakuyama et al., 2008
|
CYP2D6*54
|
CYP2D6.54
|
100C>T;
1039C>T; 1661G>C; 2556C>T; 4180G>C
|
|
|
|
P34S;
T261I; S486T
|
|
Decr (b, dx)
|
Ebisawa et al., 2005
Sakuyama et al., 2008
|
CYP2D6*55
|
CYP2D6.55
|
1661G>C; 2850C>T; 3790C>T; 3835A>C; 4180G>C
|
|
|
|
R296C; K404Q; S486T
|
|
Decr (b, dx)
|
Ebisawa et al., 2005
Sakuyama et al., 2008
|
CYP2D6*56A
|
|
-1584C>G; -1235A>G; -740C>T; -678G>A;
CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T;
3201C>T;
3384A>C; 3584G>A; 3790C>T; 4180G>C
|
|
|
|
R296C; R344X
|
|
None
|
Li
et al., 2006
|
CYP2D6*56B
|
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 2097A>G; 3201C>T;
3384A>C; 3582A>G, 4180G>C
|
|
|
|
P34S; R344X
|
|
|
Gaedigk
et al., 2007
|
CYP2D6*57
In tandem with CYP2D6*10
|
CYP2D6.57
|
100C>T; 310G>T;
843T>G; 887C>T; 1039C>T; 1661G>C; 3384A>C; 3582A>G; gene
conversion to CYP2D7 in exon 9; 4180G>C
|
|
|
|
P34S; R62W; P469A; T470A; H478S;
G479R; F481V; A482S; S486T
|
|
Negligible (b, dx)
|
Soyama
et al., 2006
Sakuyama et al., 2008
|
CYP2D6*58
|
CYP2D6.58
|
-1426C>T; -1235A>G; -740C>T;
CYP2D7 gene conversion in intron 1; 310G>T; 843T>G; 1023C>T;
1661G>C; 1863_1864insTTTCGCCCC; 2850C>T; 3384A>C;
3584G>A; 3790C>T; 4180G>C
|
|
|
|
T107I; 174_175insFRP;
R296C; S486T
|
|
|
Koch et al., unpublished
Gaedigk and Phillips, unpublished
|
CYP2D6*59
|
CYP2D6.2
|
1661G>C; 2291G>A; 2850C>T; 2939G>A; 4180G>C
|
|
|
|
R296C; S486T
|
|
Decr
|
Marez et al., 1997
Toscano
et al., 2006
|
CYP2D6*60
|
CYP2D6.60
|
1887insTA; 2303C>T
|
|
|
|
S183X
|
|
|
Lee
et al., 2009
|
CYP2D6*61
|
CYP2D6.61
|
3384A>C; CYP2D7 sequence from intron 7 onwards
|
|
|
|
P469A; T470A; H478S; G479R; F481V; A482S; S486T
|
|
|
Kramer
et al., 2009
|
CYP2D6*62
|
CYP2D6.62
|
4044C>T
|
|
|
|
R441C
|
|
None
|
Klein et al., 2007
|
CYP2D6*63
|
CYP2D6.63
|
-1584C>G; -1235A>G; -740C>T;
-678G>A; intron 1 conversion with CYP2D7 (214-245); 310G>T;
746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C;
3584G>A; 3790C>T; CYP2D7 sequence from exon 8 onwards
|
|
|
|
R296C; P469A; T470A; H478S; G479R;
F481V; A482S; S486T
|
|
|
Kramer
et al., 2009
|
CYP2D6*64
|
CYP2D6.64
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
843T>G; 1023C>T; 1661G>C;
2097A>G; 3384A>C; 3582A>G; 4180G>C; 4401C>T
|
|
|
|
P34S; T107I; S486T
|
|
|
Gaedigk
et al., 2008a
|
CYP2D6*65
|
CYP2D6.65
|
100C>T; 310G>T; 843T>G;
1661G>C; 2850C>T; 3384A>C; 3584G>A;
3790C>T; 4180G>C; 4481G>A
|
|
|
|
P34S; R296C; S486T
|
|
|
Gaedigk
et al., 2008a
|
CYP2D6*66
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*67
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*68A
|
CYP2D6.68
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; CYP2D7 sequence from intron 1 onwards
|
|
|
|
P34S; CYP2D7
sequence from amino acid 61
|
None
|
|
Kramer
et al., 2009
|
CYP2D6*68B
|
CYP2D6.68
|
Similar but not identical switch region compared to CYP2D6*68A
Found
in tandem arrangement with CYP2D6*4.
|
|
|
|
P34S; CYP2D7
sequence from amino acid 61
|
None
|
|
Gaedigk et al.,
2011
|
CYP2D6*69
|
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
746C>G; 843T>G; 1062A>G; 1661G>C; 2850C>T; 2988G>A;
3384A>C; 3584G>A; 3790C>T; 4180G>C; 4401C>T;
4481G>A
|
|
|
|
P34S; R296C; splicing defect; S486T
|
Decr.
|
|
Gaedigk
et al., 2008b
|
CYP2D6*70
|
CYP2D6.70
|
-176G>A; 310G>T; 843T>G; 1608G>A; 1659G>A; 1661G>C; 3183G>A; 3384A>C; 4180G>C
|
|
|
|
V119M; V136I;
V338M;
S486T
|
|
|
Matimba et al., 2009
|
CYP2D6*71
|
CYP2D6.71
|
-1584C>G; 125G>A;
1494 T>C
|
|
|
|
G42E
|
|
|
Zhou
et al., 2009
|
CYP2D6*72
|
CYP2D6.72
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 2097A>G; 3318G>A;
3384A>C; 3582A>G; 4180G>C; 4401C>T
|
|
|
|
P34S; E383K;
S486T
|
|
Decr.
|
Matsunaga et al., 2009
|
CYP2D6*73
|
CYP2D6.73
|
-740C>T, CYP2D7 gene conversion intron 1 (214-245), 310G>T,
746C>G, 843T>G, 1013G>A, 1661G>C, 2850C>T, 3384A>C, 3584G>A,
3790C>T, 4180G>C, 4535insT
|
|
|
|
V104M; R296C; S486T
|
|
|
Wright et al.,
2010
|
CYP2D6*74
|
CYP2D6.74
|
974C>A,
3609G>T
|
|
|
|
L91M
|
|
|
Wright et al.,
2010
|
CYP2D6*75
|
CYP2D6.75
|
4045G>A
|
|
|
|
R441H
|
|
|
Qin et al., 2008
|
CYP2D6*76
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*77
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*78
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*79
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*80
|
|
See CYP2D6*13
for details
|
|
|
|
|
|
|
|
CYP2D6*81
|
CYP2D6.81
|
2579C>T; 2606G>A;
2610T>A
|
|
|
|
R269X; E278K;
M279K
|
|
|
Chua et al.,
2013
|
CYP2D6*82
|
CYP2D6.82
|
CYP2D7 gene conversion in
exon 2:
974C>A; 984A>G; 997C>G; 1014T>C; 1022A>T; 1023C>A; 1028A>G; 1036T>C
|
|
|
|
L91M; H94R; V104A; T107Y; I109V
|
|
|
Contreras
et al., 2011
|
CYP2D6*83
|
CYP2D6.83
|
843T>G; gene conversion to CYP2D7 in exon 9; 4180G>C
|
|
|
|
P469A; T470A; H478S; G479R; F481V; A482S; S486T
|
|
|
Gaedigk et al., 2011
|
CYP2D6*84
|
CYP2D6.84
|
-1740C>T; -1235A>G; -740C>T; -678A>G; 18G>A; intron 1 conversion with CYP2D7
(214-245); 310G>T; 746C>G; 843T>G; 1661G>C; 2574C>A; 2850C>T; 3384A>C; 3491G>A;
3584G>A; 3790C>T; 4180G>C; 4481G>A
|
|
|
|
P267H; R296C; S486T
|
|
|
Dodgen
et al., 2013
|
CYP2D6*85
|
CYP2D6.85
|
-1740C>T; -1298G>A; -1235A>G; -740C>T; 102A>G;
310G>T; 607G>A; 746C>G; 843T>G; 1513C>T; 1661G>C;
2308G>A; 2850C>T; 3384A>C; 3584G>A;
3790C>T; 4157T>G; 4180G>C
|
|
|
|
R296C; H478Q; S486T
|
|
|
Dodgen
et al., 2013
|
CYP2D6*86
|
CYP2D6.86
|
2606G>A; 2610T>A
|
|
|
|
E278K; M279K
|
|
|
Dodgen
et al., 2013
|
CYP2D6*87
|
CYP2D6.87
|
14C>T; 100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 4180G>C
|
|
|
|
A5V; P34S; S486T
|
|
|
Qian et al., 2013
|
CYP2D6*88
|
CYP2D6.88
|
746C>G; intron 1 conversion with CYP2D7(214-247); 843T>G;
1014T>C; 1661G>C; 3384A>C; 3584G>A; 3790C>T; 4180G>C
|
|
|
|
V104A;
S486T
|
|
|
Qian et al., 2013
|
CYP2D6*89
|
CYP2D6.89
|
1678T>C
|
|
|
|
L142S
|
|
|
Qian et al., 2013
|
CYP2D6*90
|
CYP2D6.90
|
1693A>G
|
|
|
|
K147R
|
|
|
Qian et al., 2013
|
CYP2D6*91
|
CYP2D6.91
|
1735G>C; 2850C>T; 2988G>A
|
|
|
|
C161S; R296C; splicing defect
|
|
|
Qian et al., 2013
|
CYP2D6*92
|
CYP2D6.92
|
1995delC
|
|
|
|
218Frameshift
|
None
|
|
Qian et al., 2013
|
CYP2D6*93
|
CYP2D6.93
|
2519A>C
|
|
|
|
T249P
|
|
|
Qian et al., 2013
|
CYP2D6*94A
|
CYP2D6.94
|
100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 3181A>G; 4180G>C
|
|
|
|
P34S; D337G; S486T
|
|
|
Qian et al., 2013
|
CYP2D6*94B
|
CYP2D6.94
|
100C>T; 843T>G;
1039C>T; 1661G>C; 3181A>G; 3384A>C; 4180G>C
|
|
|
|
P34S; D337G; S486T
|
|
|
Qian et al., 2013
|
CYP2D6*95
|
CYP2D6.95
|
100C>T; 843T>G;
1039C>T; 1661G>C; 3334G>A; 3384A>C; 4180G>C
|
|
|
|
P34S; R388H;
S486T
|
|
|
Qian et al., 2013
|
CYP2D6*96
|
CYP2D6.96
|
3895C>T
|
|
|
|
Q424X
|
|
|
Qian et al., 2013
|
CYP2D6*97
|
CYP2D6.97
|
4094C>A
|
|
|
|
F457L
|
|
|
Qian et al., 2013
|
CYP2D6*98
|
CYP2D6.98
|
746C>G; 843T>G intron 1 conversion with CYP2D7(214-247);
1661G>C; 2850C>T; 3384A>C; 3584G>A;
3790C>T; 4110C>G; 4180G>C
|
|
|
|
R296C; H463D; S486T
|
|
|
Qian et al., 2013
|
CYP2D6*99
|
CYP2D6.99
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 280G>A;
310G>T; 601insC; 843T>G; 966G>C; 1039 C>T; 1289GC>CG;
1328delG; 1439delC; 1661G>C; 2097A>G; 3384A>C; 3582A>G;
4180G>C; 4401C>T;
|
|
|
|
R296C;
R88P; S486T
|
|
|
A Gaedigk, unpublished
|
CYP2D6*100
|
|
-1426C>T; -1235A>G;
-1109C>T; -1000G>A; 100C>T; 310G>T;
843T>G; 1039C>T;1661G>C; 2097A>G; 2828delC; 3384A>C; 3582A>G; 4180G>C; 4401C>T
|
|
|
|
P34S; 288Frameshift
|
None
|
|
Montane-Jaime
et al., 2013
|
CYP2D6*101
|
|
-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T;
843T>G; 1039C>T; 1661G>C; 2097A>G; 2927_2945delGATCCTACATCCGGATGTG; 3384A>C; 3582A>G; 4180G>C; 4401C>T
|
|
|
|
P34S; 321Frameshift
|
None
|
|
Montane-Jaime
et al., 2013
|
CYP2D6*102
|
CYP2D6.102
|
Intron 1 conversion with CYP2D7 (214-245); 310G>T; 972C>T;
1661G>C; 2850C>T; 3384A>C; 3790C>T; 4180G>C; 4481G>A
|
|
|
|
A90V; R296C; S486T
|
|
|
Qumsieh et al.,
2011
|
CYP2D6*103
|
CYP2D6.103
|
Intron 1 conversion with CYP2D7 (214-245); 310G>T; 972C>T;
1661G>C; 1749A>G; 2850C>T; 3384A>C; 3790C>T; 4180G>C; 4481G>A
|
|
|
|
A90V; N166D;
R296C; S486T
|
|
|
Qumsieh et al.,
2011
|
CYP2D6*104
|
CYP2D6.104
|
Intron 1 conversion with CYP2D7 (214-245); 310G>T; 843T>G;
1661G>C; 1720A>T; 2850C>T; 3384A>C; 3790C>T; 4180G>C; 4481G>A
|
|
|
|
E156V; R296C; S486T
|
|
|
Qumsieh et al.,
2011
|
CYP2D6*105
|
CYP2D6.105
|
Intron 1 conversion with CYP2D7 (214-245); 310G>T; 746C>G;
843T>G; 1661G>C; 2850C>T; 3268T>C; 3384A>C;
3790C>T; 4180G>C; 4481G>A
|
|
|
|
R296C; F366S; S486T
|
|
|
Qumsieh et al.,
2011
|
CYP2D6*106
|
|
To be released
|
|
|
|
|
|
|
|
CYP2D6*107
|
CYP2D6.107
|
1659G>A
|
-225 to 4752
|
|
|
V136M
|
|
|
Qiao et al., 2015
|
CYP2D6*108
|
CYP2D6.108
|
3226A>G;
3235A>G
|
-225 to 4752
|
|
|
H352R; Y355C
|
|
|
Qiao et al., 2015
|
CYP2D6*109
|
CYP2D6.109
|
-960G>C; 2615_2617delAAG, 3183G>A
|
-225 to 4752
|
|
|
K281del; V338M
|
|
|
Qiao et al., 2015
|
CYP2D6*110
|
CYP2D6.110
|
4056>A
|
|
|
|
G445R
|
|
|
|
CYP2D6*111
|
CYP2D6.111
|
4180G>C; 3709C>T; 3582G>A;
3384A>C; 2850C>T; 1661G>C; 1034G>A;
843T>G; 746C>G; 310G>T; intron 1 conversion
|
|
|
|
S486T
R296C
V136(=)
G111S
|
|
|
|
CYP2D6*112
|
CYP2D6.112
|
4186C>T
|
|
|
|
S488F
|
|
|
|
CYP2D6*113
|
CYP2D6.113
|
4039G>A
|
|
|
|
G439N
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Additional SNPs, where the haplotype has not
yet been determined
|
|
|
-98C>T; -43insG; 1923C>T; 1998T>C;
2303C>T; 2663G>A; 2760T>A; 3408T>C; 3435C>A; 4172C>T
|
|
|
|
|
|
|
Solus et al.,
2004
|
|
|
4155C>T
|
|
|
|
H478Y
|
|
|
Solus et al.,
2004
|
|
|
CYP2D7 gene conversion in intron 4 (2050-2392)
|
|
|
|
|
|
|
Tandon et al., manuscript
in prep.
|
|
|
2466T>C
|
|
|
|
L231P
|
|
|
Tandon et al., manuscript
in prep.
|
|
|
2606G>A*
|
|
*Part of novel CYP2D7 gene conversion in exon 5 (2470-2610) that
includes 2470T>C and 2575C>A
|
E278K
|
|
|
Tandon et al., manuscript
in prep.
|
|
|
2610T>A*
|
|
M279
|
|
|
Tandon et al., manuscript
in prep.
|
|
|
1621 G>T
|
|
|
|
R123L
|
|
|
Matimba et al., 2009
|
|
|
4057 G>A
|
|
|
|
G445E
|
|
|
Matimba et al., 2009
|
|
|
2452T>C
|
|
|
|
|
|
|
Wright et al.,
2010
|
|
|
4069C>A
Predicted on a *4 background
|
|
|
|
A449D
|
|
|
Contreras et al., 2011
|
|
|
3160G>C
|
|
|
|
R330P
|
|
|
Contreras et al., 2011
|
|
|
4083T>G
|
|
|
|
F454V
|
|
|
Fuselli et al., 2010
|
|
|
4176G>C
|
|
|
|
V485L
|
|
|
Fuselli et al., 2010
|
|
|
3180G>A
|
|
|
|
D337N
|
|
|
Fuselli et al., 2010
|
|
|
4174T>G
|
|
|
|
L484R
|
|
|
Fuselli et al., 2010
|
|
|
2818A>G
|
|
|
|
N285S
|
|
|
Fuselli et al., 2010
|
|
|
74G>A
|
|
|
|
R25Q
|
|
|
Qian et al., 2013
|
|
|
1745C>G
|
|
|
|
F164L
|
|
|
Qian et al., 2013
|
|
|
1984G>A
|
|
|
|
E215K
|
|
|
Qian et al., 2013
|
|
|
1997T>C
|
|
|
|
F219S
|
|
|
Qian et al., 2013
|
|
|
2943G>A
|
|
|
|
V327M
|
|
|
Qian et al., 2013
|
|
|
3177G>A
|
|
|
|
D336N
|
|
|
Qian et al., 2013
|
|
|
3195G>A
|
|
|
|
V342M
|
|
|
Qian et al., 2013
|
|
|
3202G>A
|
|
|
|
R344Q
|
|
|
Qian et al., 2013
|
|
|
4041C>T
|
|
|
|
R440C
|
|
|
Qian et al., 2013
|
|
|
4212C>T
|
|
|
|
R497C
|
|
|
Qian et al., 2013
|
|
|
|
|
|
|
|
|
|
|
|
|
|