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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
6027252
A
G
intron_variant
MODIFIER
NPHP4
c.517+107T>C
chr1
6027167
C
A
intron_variant
MODIFIER
NPHP4
c.517+192G>T
chr1
5948677
G
A
intron_variant
MODIFIER
NPHP4
c.2305-1151C>T
chr1
5939544
T
G
intron_variant
MODIFIER
NPHP4
c.2611+630A>C
chr1
5937413
A
C
intron_variant
MODIFIER
NPHP4
c.2612-55T>G
chr1
5937391
C
T
intron_variant
MODIFIER
NPHP4
c.2612-33G>A
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
3350425
A
G
3_prime_UTR_variant
MODIFIER
PRDM16
c.*50A>G
chr1
3348815
C
T
intron_variant
MODIFIER
PRDM16
c.3696+111C>T
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
3303158
GA
G
intron_variant
MODIFIER
PRDM16
c.573+1309delA
chr1
3301721
C
T
synonymous_variant
LOW
PRDM16
c.444C>T
chr1
2985885
C
G
intron_variant
MODIFIER
PRDM16
c.37+25C>G