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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
5937168
G
A
synonymous_variant
LOW
NPHP4
c.2802C>T
chr1
5937091
T
C
intron_variant
MODIFIER
NPHP4
c.2817+62A>G
chr1
5935162
A
T
splice_acceptor_variant&intron_variant
HIGH
NPHP4
c.2818-2T>A
chr1
5934500
T
C
intron_variant
MODIFIER
NPHP4
c.3231+31A>G
chr1
5934490
A
G
intron_variant
MODIFIER
NPHP4
c.3231+41T>C
chr1
5926507
T
C
synonymous_variant
LOW
NPHP4
c.3570A>G
chr1
5925371
G
A
intron_variant
MODIFIER
NPHP4
c.3645-38C>T
chr1
3350409
G
A
3_prime_UTR_variant
MODIFIER
PRDM16
c.*34G>A
chr1
3350173
T
TGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCCGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCC
intron_variant
MODIFIER
PRDM16
c.3697-68_3697-67insGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCCGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCC
chr1
3342804
G
T
intron_variant
MODIFIER
PRDM16
c.3284+15G>T
chr1
3328358
T
C
missense_variant
MODERATE
PRDM16
c.1597T>C
chr1
3319681
C
G
intron_variant
MODIFIER
PRDM16
c.884+119C>G
chr1
3319674
C
T
intron_variant
MODIFIER
PRDM16
c.884+112C>T
chr1
3319601
ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG
A
intron_variant
MODIFIER
PRDM16
c.884+40_884+70delCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG
chr1
3312914
T
G
intron_variant
MODIFIER
PRDM16
c.574-141T>G
chr1
3301721
C
T
synonymous_variant
LOW
PRDM16
c.444C>T
chr1
2985885
C
G
intron_variant
MODIFIER
PRDM16
c.37+25C>G
chrX
44929077
C
A
missense_variant
KDM6A
c.2333C>A
p.Thr778Lys
chr22
19754091
A
C
missense_variant
TBX1
c.1189A>C
p.Asn397His
chr21
47538960
G
A
missense_variant
COL6A2
c.1196G>A
p.Ser399Asn