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Details for COL17A1:c.4156+2dup,

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
105793700	104033942

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TA

TRANSCRIPT

CDNA CHANGE

c.4156+2dup

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.271906	Disease causing

DBSNP ID

1 combination linked to COL17A1:c.4156+2dup,

1 disease linked to COL17A1:c.4156+2dup,

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