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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
150648198
A
G
synonymous_variant
LOW
KCNH2
c.1956T>C
chr7
150647970
C
G
intron_variant
MODIFIER
KCNH2
c.2145+39G>C
chr7
150647969
C
T
intron_variant
MODIFIER
KCNH2
c.2145+40G>A
chr7
150647569
T
C
intron_variant
MODIFIER
KCNH2
c.2146-61A>G
chr7
150645682
G
A
intron_variant
MODIFIER
KCNH2
c.2593-51C>T
chr7
150645023
G
A
intron_variant
MODIFIER
KCNH2
c.2693-57C>T
chr7
150644394
C
T
intron_variant
MODIFIER
KCNH2
c.3152+22G>A
chr7
98658130
CT
C
intron_variant
MODIFIER
SMURF1
c.203+91delA
chr7
98650099
T
C
intron_variant
MODIFIER
SMURF1
c.480-30A>G
chr7
98650051
G
C
synonymous_variant
LOW
SMURF1
c.498C>G
chr7
98647139
C
T
intron_variant
MODIFIER
SMURF1
c.1031+47G>A
chr7
98645565
C
G
intron_variant
MODIFIER
SMURF1
c.1032-60G>C
chr7
98645517
G
A
intron_variant
MODIFIER
SMURF1
c.1032-12C>T
chr7
94056251
GAA
G
intron_variant
MODIFIER
COL1A2
c.3106-68_3106-67delAA
chr7
94056244
C
G
intron_variant
MODIFIER
COL1A2
c.3106-76C>G
chr7
94052495
A
G
intron_variant
MODIFIER
COL1A2
c.2565+65A>G
chr7
94051084
CCTACCTCCTACTCCTTGGTCTATTCCTGGTCACATGTA
C
intron_variant
MODIFIER
COL1A2
c.2350-126_2350-89delCTACCTCCTACTCCTTGGTCTATTCCTGGTCACATGTA
chr7
94047677
C
T
intron_variant
MODIFIER
COL1A2
c.1972-134C>T
chr7
94043239
C
G
missense_variant
MODERATE
COL1A2
c.1645C>G
chr7
94041937
A
C
synonymous_variant
LOW
COL1A2
c.1446A>C