12-112187840-A-G |
ACAD10 |
c.2817+691A>G |
- |
IntronicSNV |
- |
18/20 |
4-68482401-T-C |
UBA6 |
c.*2314A>G |
- |
3-UTRSNV |
33/33 |
- |
4-68520619-T-A |
UBA6 |
c.1105-5690A>T |
- |
IntronicSNV |
- |
13/32 |
8-85714073-G-A |
RALYL |
c.372-2932G>A |
- |
IntronicSNV |
- |
3/8 |
4-68489018-C-CC |
UBA6 |
c.2841-76_2841-76dup |
- |
IntronicInsertion |
- |
30/32 |
12-112183574-T-C |
ACAD10 |
c.2116-374T>C |
- |
IntronicSNV |
- |
13/20 |
1-46822372-A-AGAAG |
NSUN4 |
c.753+3672_753+3673insGAAG |
- |
IntronicInsertion |
- |
4/5 |
4-68555508-T-A |
UBA6 |
c.134+6855A>T |
- |
IntronicSNV |
- |
2/32 |
12-112379095-G-A |
TMEM116 |
c.39+1974C>T |
- |
IntronicSNV |
- |
4/9 |
12-112403931-A-G |
TMEM116 |
c.1-22824T>C |
- |
IntronicSNV |
- |
3/9 |
5-74648496-G-T |
HMGCR |
c.1368+1069G>T |
- |
IntronicSNV |
- |
11/19 |
5-78373664-G-A |
BHMT2 |
c.166+229G>A |
- |
IntronicSNV |
- |
2/7 |
4-68555508-T-C |
UBA6 |
c.134+6855A>G |
- |
IntronicSNV |
- |
2/32 |
5-78373664-G-C |
BHMT2 |
c.166+229G>C |
- |
IntronicSNV |
- |
2/7 |
1-46822998-T-C |
NSUN4 |
c.754-3378T>C |
- |
IntronicSNV |
- |
4/5 |
17-61563661-C-G |
ACE |
c.2059-257C>G |
- |
IntronicSNV |
- |
13/24 |
5-78367464-C-G |
BHMT2 |
c.33+1826C>G |
- |
IntronicSNV |
- |
1/7 |
4-68560272-CACCCG-CACCCGCACCCG |
UBA6 |
c.134+2086_134+2091dup |
- |
IntronicInsertion |
- |
2/32 |
12-112313216-A-T |
MAPKAPK5 |
c.579+4232A>T |
- |
IntronicSNV |
- |
7/13 |
1-46864511-G-A |
FAAH |
c.196-3252G>A |
- |
IntronicSNV |
- |
1/14 |
12-112151476-C-T |
ACAD10 |
c.850+1015C>T |
- |
IntronicSNV |
- |
6/20 |
5-78295854-T-G |
DMGDH |
c.2386-1734A>C |
- |
IntronicSNV |
- |
15/15 |
1-55522141-A-C |
PCSK9 |
c.996+279A>C |
- |
IntronicSNV |
- |
6/11 |
7-44444568-A-G |
NUDCD3 |
c.643-386T>C |
- |
IntronicSNV |
- |
3/5 |
4-68494237-AGCTCCAT-AGCTCCATAGCTCCAT |
UBA6 |
c.2400+545_2400+552dup |
- |
IntronicInsertion |
- |
27/32 |
1-46822372-A-AG |
NSUN4 |
c.753+3672_753+3673insG |
- |
IntronicInsertion |
- |
4/5 |
12-112141570-G-A |
ACAD10 |
c.336+1456G>A |
- |
IntronicSNV |
- |
3/20 |
16-56999328-C-T |
CETP |
c.233+2292C>T |
- |
IntronicSNV |
- |
2/15 |
1-55522141-A-G |
PCSK9 |
c.996+279A>G |
- |
IntronicSNV |
- |
6/11 |
17-61560763-T-C |
ACE |
c.1488-58T>C |
- |
IntronicSNV |
- |
9/24 |
12-112086099-T-C |
BRAP |
c.1415+1644A>G |
- |
IntronicSNV |
- |
11/11 |
5-78566346-A-G |
JMY |
c.1033-7387A>G |
- |
IntronicSNV |
- |
1/10 |
5-78361789-A-G |
DMGDH |
c.102-2179T>C |
- |
IntronicSNV |
- |
1/15 |
17-61563661-C-T |
ACE |
c.2059-257C>T |
- |
IntronicSNV |
- |
13/24 |
3-122003757-G-T |
CASR |
c.2956G>T |
p.Ala986Ser |
Missense |
7/7 |
- |
17-61563661-C-A |
ACE |
c.2059-257C>A |
- |
IntronicSNV |
- |
13/24 |
5-78566346-A-T |
JMY |
c.1033-7387A>T |
- |
IntronicSNV |
- |
1/10 |
2-113832333-C-A |
IL1F10 |
c.152C>A |
p.Ala51Asp |
Missense |
4/5 |
- |
5-78337225-G-A |
DMGDH |
c.1193+881C>T |
- |
IntronicSNV |
- |
7/15 |
5-78367092-T-C |
BHMT2 |
c.33+1454T>C |
- |
IntronicSNV |
- |
1/7 |
4-68520619-T-G |
UBA6 |
c.1105-5690A>C |
- |
IntronicSNV |
- |
13/32 |
4-68494244-T-TAGCTC |
UBA6 |
c.2400+544_2400+545insGAGCT |
- |
IntronicInsertion |
- |
27/32 |