From: PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor
Nucleotide
Alteration
Exon
Codon
Amino Acid
Zygote
10352
C > T
4
96
Ala
Heterozygote
16758
C > G
7
280
Ser
Homozygote
26796
C > A
11
485
Thr > Lys
36398
A > G
14
775
Asn > Leu
40585
T > G
15
822
Leu