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Details for COL4A2:c.3635-3C>T,

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
111147686	110495339

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3635-3C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.047e-06	6.457e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.08355	Polymorphism

DBSNP ID

1 combination linked to COL4A2:c.3635-3C>T,

1 disease linked to COL4A2:c.3635-3C>T,

Non-Syndromic genetic keratoconus

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