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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
51740407
CATAA
C
frameshift_variant&splice_region_variant
HIGH
CELA1
c.12_15delTTAT
chr12
51740393
CCATATCCACTT
C
splice_region_variant&intron_variant
LOW
CELA1
c.16+3_16+13delAAGTGGATATG
chr12
51740388
C
A
intron_variant
MODIFIER
CELA1
c.16+19G>T
chr12
51740387
ACTGG
A
intron_variant
MODIFIER
CELA1
c.16+16_16+19delCCAG
chr12
51739648
C
G
missense_variant
MODERATE
CELA1
c.30G>C
chr12
51737607
G
A
missense_variant
MODERATE
CELA1
c.130C>T
chr12
51737439
G
A
intron_variant
MODIFIER
CELA1
c.200+98C>T
chr12
51735022
A
T
splice_region_variant&intron_variant
LOW
CELA1
c.463+6T>A
chr12
51733734
G
A
synonymous_variant
LOW
CELA1
c.519C>T
chr12
51723499
T
C
missense_variant
MODERATE
CELA1
c.728A>G
chr12
51722409
G
GT
intron_variant
MODIFIER
CELA1
c.760-32_760-31insA
chr12
51722311
C
T
3_prime_UTR_variant
MODIFIER
CELA1
c.*50G>A
chr12
49444545
G
A
synonymous_variant
LOW
KMT2D
c.2826C>T
chr12
49442813
T
C
intron_variant
MODIFIER
KMT2D
c.4020+75A>G
chr12
49442356
C
CA
intron_variant
MODIFIER
KMT2D
c.4131+85_4131+86insT
chr12
49439659
C
T
intron_variant
MODIFIER
KMT2D
c.4741+44G>A
chr12
49436724
A
G
intron_variant
MODIFIER
KMT2D
c.5645-63T>C
chr12
49434074
C
A
synonymous_variant
LOW
KMT2D
c.7479G>T
chr12
49427652
C
T
synonymous_variant
LOW
KMT2D
c.10836G>A
chr12
49425978
T
C
synonymous_variant
LOW
KMT2D
c.12510A>G