Table 5 |
|||
|
CDKN2A and MC1R allelic variants in patients with CM |
|||
|
CASE |
CM |
CDKN2A allel. variants |
MC1R alleles |
|
|
|||
|
1 |
yes, multiple |
p.L94Q |
"R" |
|
2 |
yes, multiple |
p.L94Q |
|
|
3 |
no |
p.L94Q |
"r" |
|
4 |
yes |
p.L94Q |
|
|
5 |
no |
p.L94Q |
"R" |
|
6 |
yes, multiple |
p.G23D |
"r" |
|
7 |
no |
p.G23D |
"R" |
|
8 |
yes, multiple |
IVS1-1g>a |
"R" |
|
9 |
yes, multiple |
p.G101W |
|
|
10 |
yes, multiple |
p.R24P |
"r" |
|
11 |
yes |
p.A148T |
"R" |
|
12 |
yes |
p.G101W |
|
|
13 |
yes |
p.A148T |
|
|
14 |
no |
p.R24P |
"r" |
|
15 |
yes |
p.G23D |
"r" |
|
16 |
yes, multiple |
p.A148T |
"r" |
|
17 |
yes, multiple |
p.D84N |
|
|
|
|||
|
Peric et al. BMC Medical Genetics 2008 9:86 doi:10.1186/1471-2350-9-86 |
|||
