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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
36985303
A
G
missense_variant
MODERATE
NIPBL
c.2021A>G
chr5
36958085
CAA
C
intron_variant
MODIFIER
NIPBL
c.231-120_231-119delAA
chr5
13944512
A
C
missense_variant
MODERATE
DNAH5
c.36T>G
chr5
13931340
C
T
missense_variant
MODERATE
DNAH5
c.71G>A
chr5
13931205
G
C
intron_variant
MODIFIER
DNAH5
c.192+14C>G
chr5
13928085
T
C
intron_variant
MODIFIER
DNAH5
c.277+118A>G
chr5
13914819
G
A
intron_variant
MODIFIER
DNAH5
c.1198-68C>T
chr5
13914796
T
C
intron_variant
MODIFIER
DNAH5
c.1198-45A>G
chr5
13914775
G
T
intron_variant
MODIFIER
DNAH5
c.1198-24C>A
chr5
13914556
A
G
intron_variant
MODIFIER
DNAH5
c.1320+73T>C
chr5
13914120
T
C
intron_variant
MODIFIER
DNAH5
c.1321-53A>G
chr5
13913885
A
G
synonymous_variant
LOW
DNAH5
c.1503T>C
chr5
13911700
GAA
G
intron_variant
MODIFIER
DNAH5
c.1537-100_1537-99delTT
chr5
13902220
T
C
missense_variant
MODERATE
DNAH5
c.1672A>G
chr5
13900345
A
G
synonymous_variant
LOW
DNAH5
c.2229T>C
chr5
13894894
T
A
missense_variant
MODERATE
DNAH5
c.2296A>T
chr5
13886244
CAA
C
splice_region_variant&intron_variant
LOW
DNAH5
c.2578-8_2578-7delTT
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