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Details for BBS4:c.332+2_332+3insTT,

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73007744	72715403

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GTT

TRANSCRIPT

CDNA CHANGE

c.332+2_332+3insTT

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
7.967e-06	0.0	0.0	0.0	0.0	0.0	1.762e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.390799	Disease causing

DBSNP ID

1 combination linked to BBS4:c.332+2_332+3insTT,

1 disease linked to BBS4:c.332+2_332+3insTT,

Bardet-Biedl syndrome

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