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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr4
174450288
G
C
synonymous_variant
LOW
HAND2
c.153C>G
chr4
170501954
T
C
intron_variant
MODIFIER
NEK1
c.868+39A>G
chr4
170501850
A
T
intron_variant
MODIFIER
NEK1
c.868+143T>A
chr4
170483153
T
A
intron_variant
MODIFIER
NEK1
c.1081-111A>T
chr4
170429359
C
T
intron_variant
MODIFIER
NEK1
c.1833+40G>A
chr4
170428843
C
A
intron_variant
MODIFIER
NEK1
c.1911+23G>T
chr4
170428352
G
T
intron_variant
MODIFIER
NEK1
c.1912-69C>A
chr4
170428331
G
T
intron_variant
MODIFIER
NEK1
c.1912-48C>A
chr4
170428086
GA
G
intron_variant
MODIFIER
NEK1
c.2007+101delT
chr4
170398454
T
C
missense_variant
MODERATE
NEK1
c.2255A>G
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
170315496
C
T
3_prime_UTR_variant
MODIFIER
NEK1
c.*165G>A
chr4
167020644
A
G
missense_variant
MODERATE
TLL1
c.2872A>G
chr4
167012543
T
C
intron_variant
MODIFIER
TLL1
c.2656+50T>C
chr4
167012506
A
G
intron_variant
MODIFIER
TLL1
c.2656+13A>G
chr4
167012480
T
C
synonymous_variant
LOW
TLL1
c.2643T>C
chr4
167012381
G
A
synonymous_variant
LOW
TLL1
c.2544G>A
chr4
166987134
T
TTACCATTTGACATAGGTTTAGTAATATTTTACTTAAAATTAGGATATTAAATAATAGGGACCCTGATGAAATGTTGCCTCCAAACAATTAGATCTTATATAAAATTTAGTCAAATATTATAAAGGCTTG
intron_variant
MODIFIER
TLL1
c.2188+119_2188+120insTACCATTTGACATAGGTTTAGTAATATTTTACTTAAAATTAGGATATTAAATAATAGGGACCCTGATGAAATGTTGCCTCCAAACAATTAGATCTTATATAAAATTTAGTCAAATATTATAAAGGCTTG
chr4
166987125
A
G
intron_variant
MODIFIER
TLL1
c.2188+110A>G