19-11216133-G-A |
LDLR |
c.551G>A |
p.Cys184Tyr |
Missense |
4/18 |
- |
19-11216273-CTGC-C |
LDLR |
c.691_693delTGC |
p.Cys231delCys |
InFrameDeletion |
4/18 |
- |
19-11223997-G-T |
LDLR |
c.1230G>T |
p.Arg410Ser |
Missense |
9/18 |
- |
19-11231156-G-A |
LDLR |
c.2098G>A |
p.Asp700Asn |
Missense |
14/18 |
- |
19-11213450-G-A |
LDLR |
c.301G>A |
p.Glu101Lys |
Missense |
3/18 |
- |
2-21229160-C-T |
APOB |
c.10580G>A |
p.Arg3527Gln |
Missense |
26/29 |
- |
1-241667401-CG-TA |
FH |
c.1048_1049delCGinsTA |
p.Arg350* |
Nonsense |
7/10 |
- |
19-11223997-G-C |
LDLR |
c.1230G>C |
p.Arg410Ser |
Missense |
9/18 |
- |
19-11216263-C-G |
LDLR |
c.681C>G |
p.Asp227Glu |
Missense |
4/18 |
- |
1-241671948-CAATCTTGATGATCTGTGCAAACTCTTT-C |
FH |
c.667_693del27 |
p.Lys223_ile231del |
InFrameDeletion |
5/10 |
- |
19-11216211-T-A |
LDLR |
c.629T>A |
p.Ile210Asn |
Missense |
4/18 |
- |
19-11215944-G-C |
LDLR |
c.362G>C |
p.Cys121Ser |
Missense |
4/18 |
- |
19-11218109-G-A |
LDLR |
c.859G>A |
p.Gly287Ser |
Missense |
6/18 |
- |
8-133900239-CCTGTCAATTAC-C |
TG |
c.2187_2197del11 |
p.Cys730Valfs*2 |
Frameshift |
10/48 |
- |
19-11231112-C-T |
LDLR |
c.2054C>T |
p.Pro685Leu |
Missense |
14/18 |
- |
19-11218148-A-T |
LDLR |
c.898A>T |
p.Arg300* |
Nonsense |
6/18 |
- |
19-11216262-GAC-G |
LDLR |
c.680_681delAC |
p.Asp227Glyfs*12 |
Frameshift |
4/18 |
- |
19-11216263-C-A |
LDLR |
c.681C>A |
p.Asp227Glu |
Missense |
4/18 |
- |
19-11213408-T-G |
LDLR |
c.259T>G |
p.Trp87Gly |
Missense |
3/18 |
- |
19-11240275-C-A |
LDLR |
c.2476C>A |
p.Pro826Thr |
Missense |
17/18 |
- |
1-55523127-G-T |
PCSK9 |
c.1120G>T |
p.Asp374Tyr |
Missense |
7/12 |
- |
19-11215943-T-A |
LDLR |
c.361T>A |
p.Cys121Ser |
Missense |
4/18 |
- |