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chr3:37070330 GA>G

Основные

Ген MLH1
Транскрипт NM_000249.3
кДНК c.1466delA
Белок p.E489fs
Функция frameshift del
Локализация exon
hg19 chr3:37070330 GA>G
dbSNP

Синонимы

Транскрипт кДНК Белок
NM_001167619.2 c.745del p.Met249*
NM_001258273.1 c.743delA p.E248fs
NM_001167617.2 c.1174del p.Met392*
NM_001167618.2 c.745del p.Met249*
NM_001258271.1 c.1466delA p.E489fs
NM_001258274.2 c.745del p.Met249*
NM_001354615.1 c.745del p.Met249*
NM_001354616.1 c.745del p.Met249*
NM_001354617.1 c.745del p.Met249*
NM_001354618.1 c.745del p.Met249*
NM_001354619.1 c.745del p.Met249*
NM_001354620.1 c.1174del p.Met392*
NM_001354621.1 c.445del p.Met149*
NM_001354622.1 c.445del p.Met149*
NM_001354623.1 c.445del p.Met149*
NM_001354624.1 c.394del p.Met132*
NM_001354625.1 c.394del p.Met132*
NM_001354626.1 c.394del p.Met132*
NM_001354627.1 c.394del p.Met132*
NM_001354628.1 c.1468del p.Met490*
NM_001354629.1 c.1369del p.Met457*
NM_001354630.1 c.1468del p.Met490*

Частота в gnomAD

Genome Exome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS