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Details for EXO1:c.2212-1G>C,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
242048615	241885313

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2212-1G>C

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0043	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001614	0.0007424	0.001882	0.0004984	0.0	0.0003697	0.002575	0.002132	0.0003271

ESP
AA	EA
0.0009079	0.002791

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.269856	Polymorphism

DBSNP ID

1 combination linked to EXO1:c.2212-1G>C,

1 disease linked to EXO1:c.2212-1G>C,

Familial adenomatous polyposis

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