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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
57110442
G
A
intron_variant
MODIFIER
NACA
c.1865-452C>T
chr12
57109931
A
T
missense_variant
MODERATE
NACA
c.1924T>A
chr12
57109792
A
G
missense_variant
MODERATE
NACA
c.2063T>C
chr12
57108203
A
G
synonymous_variant
LOW
NACA
c.2307T>C
chr12
57106810
G
A
intron_variant
MODIFIER
NACA
c.2640+36C>T
chr12
57106660
A
T
synonymous_variant
LOW
NACA
c.2673T>A
chr12
51740416
C
CG
frameshift_variant
HIGH
CELA1
c.6_7insC
chr12
51740415
A
AAG
frameshift_variant
HIGH
CELA1
c.7_8insCT
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
51737607
G
A
missense_variant
MODERATE
CELA1
c.130C>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
51722479
T
C
intron_variant
MODIFIER
CELA1
c.760-101A>G
chr12
51722311
C
T
3_prime_UTR_variant
MODIFIER
CELA1
c.*50G>A
chr12
49445528
G
C
synonymous_variant
LOW
KMT2D
c.1938C>G
chr12
49439659
C
T
intron_variant
MODIFIER
KMT2D
c.4741+44G>A
chr12
49434074
C
A
synonymous_variant
LOW
KMT2D
c.7479G>T