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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
3795363
G
A
splice_region_variant&intron_variant
LOW
CREBBP
c.3837-8C>T
chr16
3795292
G
T
synonymous_variant
LOW
CREBBP
c.3900C>A
chr16
3790307
T
C
intron_variant
MODIFIER
CREBBP
c.4133+93A>G
chr16
3789537
G
A
intron_variant
MODIFIER
CREBBP
c.4280+42C>T
chr16
3781313
G
A
synonymous_variant
LOW
CREBBP
c.5052C>T
chr16
3778337
G
A
synonymous_variant
LOW
CREBBP
c.6711C>T
chr16
2167874
G
A
synonymous_variant
LOW
PKD1
c.1119C>T
chr16
2164808
C
T
missense_variant
MODERATE
PKD1
c.2216G>A
chr16
2154478
A
G
intron_variant
MODIFIER
PKD1
c.8161+21T>C
chr16
2154461
C
T
intron_variant
MODIFIER
PKD1
c.8161+38G>A
chr16
2138452
C
T
synonymous_variant
LOW
TSC2
c.5265C>T
chr16
2123073
G
A
intron_variant
MODIFIER
TSC2
c.2355+89G>A
chr16
2120402
T
C
intron_variant
MODIFIER
TSC2
c.1717-55T>C
chr16
2111779
T
C
intron_variant
MODIFIER
TSC2
c.1120-93T>C
chr16
2110571
C
G
intron_variant
MODIFIER
TSC2
c.976-100C>G
chr16
2107489
C
T
intron_variant
MODIFIER
TSC2
c.848+310C>T
chr16
2100599
CTT
C
intron_variant
MODIFIER
TSC2
c.225+113_225+114delTT
chr16
1657284
C
G
5_prime_UTR_variant
MODIFIER
IFT140
c.-17G>C
chr16
1652621
A
G
intron_variant
MODIFIER
IFT140
c.148-29T>C
chr16
1652614
T
A
intron_variant
MODIFIER
IFT140
c.148-22A>T