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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
13811775
T
C
missense_variant
MODERATE
DNAH5
c.7388A>G
chr5
13810529
C
G
intron_variant
MODIFIER
DNAH5
c.7408-160G>C
chr5
13810441
G
A
intron_variant
MODIFIER
DNAH5
c.7408-72C>T
chr5
13810149
G
A
intron_variant
MODIFIER
DNAH5
c.7609+19C>T
chr5
13737700
A
G
intron_variant
MODIFIER
DNAH5
c.11212-96T>C
chr5
13735892
T
C
intron_variant
MODIFIER
DNAH5
c.11570+35A>G
chr5
13735147
C
A
intron_variant
MODIFIER
DNAH5
c.11761+93G>T
chr5
13719089
G
A
missense_variant
MODERATE
DNAH5
c.12401C>T
chr5
13719022
T
G
synonymous_variant
LOW
DNAH5
c.12468A>C
chr5
13714740
G
A
intron_variant
MODIFIER
DNAH5
c.12910-11C>T
chr5
13701654
T
C
intron_variant
MODIFIER
DNAH5
c.13339-109A>G
chr5
13701536
T
C
missense_variant
MODERATE
DNAH5
c.13348A>G
chr5
13701525
T
C
synonymous_variant
LOW
DNAH5
c.13359A>G
chr5
13701327
A
G
intron_variant
MODIFIER
DNAH5
c.13491+66T>C
chr5
13692279
A
T
intron_variant
MODIFIER
DNAH5
c.13724-35T>A
chr4
170483153
T
A
intron_variant
MODIFIER
NEK1
c.1081-111A>T
chr4
170428352
G
T
intron_variant
MODIFIER
NEK1
c.1912-69C>A
chr4
170354873
T
C
intron_variant
MODIFIER
NEK1
c.2765-57A>G
chr4
170354836
C
T
intron_variant
MODIFIER
NEK1
c.2765-20G>A
chr4
167012543
T
C
intron_variant
MODIFIER
TLL1
c.2656+50T>C