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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
120478285
T
C
intron_variant
MODIFIER
NOTCH2
c.3523-58A>G
chr1
120477998
C
A
3_prime_UTR_variant
MODIFIER
NOTCH2
c.*44G>T
chr1
120460916
A
C
intron_variant
MODIFIER
NOTCH2
c.5929+113T>G
chr1
120458924
G
A
synonymous_variant
LOW
NOTCH2
c.6421C>T
chr1
115256669
G
A
intron_variant
MODIFIER
NRAS
c.112-70C>T
chr1
110612925
G
A
intron_variant
MODIFIER
ALX3
c.277+33C>T
chr1
110603286
A
AGGTGCTTCCTCCGTGGTGTCCAGGCAGG
3_prime_UTR_variant
MODIFIER
ALX3
c.*68_*69insCCTGCCTGGACACCACGGAGGAAGCACC
chr1
103573547
G
A
intron_variant
MODIFIER
COL11A1
c.106+82C>T
chr1
103496805
GA
G
splice_region_variant&intron_variant
LOW
COL11A1
c.652-6delT
chr1
103496620
G
T
intron_variant
MODIFIER
COL11A1
c.780+52C>A
chr1
103487394
CT
C
intron_variant
MODIFIER
COL11A1
c.1282-70delA
chr1
103483514
C
T
intron_variant
MODIFIER
COL11A1
c.1387-76G>A
chr1
103471734
A
AAAATAAATAAATAAAT
intron_variant
MODIFIER
COL11A1
c.1774-58_1774-57insATTTATTTATTTATTT
chr1
103471734
A
AAAATAAAT
intron_variant
MODIFIER
COL11A1
c.1774-58_1774-57insATTTATTT
chr1
103471456
CCAT
C
intron_variant
MODIFIER
COL11A1
c.1828-12_1828-10delATG
chr1
103468609
A
G
intron_variant
MODIFIER
COL11A1
c.2034+162T>C
chr1
103467615
C
T
intron_variant
MODIFIER
COL11A1
c.2134-90G>A
chr1
103461508
T
A
intron_variant
MODIFIER
COL11A1
c.2331+37A>T
chr1
103449598
G
C
intron_variant
MODIFIER
COL11A1
c.2592+96C>G
chr1
103444970
A
T
missense_variant
MODERATE
COL11A1
c.2614T>A