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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
13900345
A
G
synonymous_variant
LOW
DNAH5
c.2229T>C
chr5
13885023
GCA
G
intron_variant
MODIFIER
DNAH5
c.2983+73_2983+74delTG
chr5
13883262
C
G
intron_variant
MODIFIER
DNAH5
c.2984-59G>C
chr5
13882958
C
T
intron_variant
MODIFIER
DNAH5
c.3175-34G>A
chr5
13876664
T
C
intron_variant
MODIFIER
DNAH5
c.3396+129A>G
chr5
13865987
T
C
missense_variant
MODERATE
DNAH5
c.4145A>G
chr5
13850739
T
A
intron_variant
MODIFIER
DNAH5
c.5114+22A>T
chr5
13845107
A
G
splice_region_variant&intron_variant
LOW
DNAH5
c.5115-5T>C
chr5
13845045
G
A
synonymous_variant
LOW
DNAH5
c.5172C>T
chr5
13844874
G
A
intron_variant
MODIFIER
DNAH5
c.5271+72C>T
chr5
13842052
A
T
intron_variant
MODIFIER
DNAH5
c.5272-39T>A
chr5
13839695
C
T
intron_variant
MODIFIER
DNAH5
c.5710-58G>A
chr5
13829799
G
A
synonymous_variant
LOW
DNAH5
c.6264C>T
chr5
13829608
G
A
intron_variant
MODIFIER
DNAH5
c.6444+11C>T
chr5
13823588
T
A
intron_variant
MODIFIER
DNAH5
c.6580-109A>T
chr5
13820656
G
A
intron_variant
MODIFIER
DNAH5
c.6688-48C>T
chr5
13817881
G
A
intron_variant
MODIFIER
DNAH5
c.6842-78C>T
chr5
13815050
G
T
intron_variant
MODIFIER
DNAH5
c.6989-95C>A
chr5
13815049
A
C
intron_variant
MODIFIER
DNAH5
c.6989-94T>G
chr5
13814682
T
C
intron_variant
MODIFIER
DNAH5
c.7230+32A>G