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Details for COL4A4:c.1100dup, p.Pro369ThrfsTer61

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
227963513	227098797

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GC

TRANSCRIPT

N.A.

CDNA CHANGE

c.1100dup

PROTEIN CHANGE

p.Pro369ThrfsTer61

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	3.991455	Disease causing

DBSNP ID

1 combination linked to COL4A4:c.1100dup, p.Pro369ThrfsTer61

1 disease linked to COL4A4:c.1100dup, p.Pro369ThrfsTer61

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