Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
5-134223789-C-G | TXNDC15 | c.508C>G | p.Leu170Val | Missense | 2/5 | - |
10-90966482-C-T | CH25H | c.568G>A | p.Val190Ile | Missense | 1/1 | - |
8-101733682-T-A | PABPC1 | c.130A>T | p.Arg44Trp | Missense | 1/15 | - |
14-73572685-A-G | RBM25 | c.1273A>G | p.Arg425Gly | Missense | 11/19 | - |
4-72634043-G-A | GC | c.236C>T | p.Ala79Val | Missense | 3/13 | - |
2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
1-25890173-CT-C | LDLRAP1 | c.638delT | p.Leu213Argfs*3 | Frameshift | 7/9 | - |
14-93649963-T-G | MOAP1 | c.625A>C | p.Ser209Arg | Missense | 3/3 | - |
14-73538358-T-G | RBM25 | c.9T>G | p.Phe3Leu | Missense | 2/19 | - |
14-73554780-A-T | RBM25 | c.454A>T | p.Ile152Phe | Missense | 6/19 | - |
19-11231112-C-T | LDLR | c.2054C>T | p.Pro685Leu | Missense | 14/18 | - |
14-93650324-G-C | MOAP1 | c.264C>G | p.Ile88Met | Missense | 3/3 | - |
19-48543931-T-G | CABP5 | c.169A>C | p.Met57Leu | Missense | 3/6 | - |
14-73538399-T-C | RBM25 | c.50T>C | p.Leu17Pro | Missense | 2/19 | - |
10-90966308-A-C | CH25H | c.742T>G | p.Cys248Gly | Missense | 1/1 | - |
2-21233102-ATCA-A | APOB | c.6639_6641delTGA | p.Asp2213delAsp | InFrameDeletion | 26/29 | - |
1-16344253-C-T | HSPB7 | c.199+7G>A | - | IntronicSNV | - | 1/2 |
14-93649881-G-A | MOAP1 | c.707C>T | p.Ala236Val | Missense | 3/3 | - |
8-101721447-T-G | PABPC1 | c.1250A>C | p.Gln417Pro | Missense | 9/15 | - |
19-11227652-C-T | LDLR | c.1823C>T | p.Pro608Leu | Missense | 12/18 | - |
2-21265322-G-A | APOB | c.148C>T | p.Arg50Trp | Missense | 3/29 | - |
19-11240196-TCGTCTTCCT-T | LDLR | c.2397_2405delCGTCTTCCT | p.Val800_leu802del | InFrameDeletion | 17/18 | - |
19-11216264-G-T | LDLR | c.682G>T | p.Glu228* | Nonsense | 4/18 | - |
6-160578860-T-C | SLC22A1 | c.1599-688T>C | - | IntronicSNV | - | 10/10 |
2-118854368-C-T | INSIG2 | c.236C>T | p.Thr79Met | Missense | 2/6 | - |
19-11216014-G-GA | LDLR | c.432_433insA | p.Val145Serfs*35 | Frameshift | 4/18 | - |
10-90966806-G-A | CH25H | c.244C>T | p.Gln82* | Nonsense | 1/1 | - |
19-11240278-G-A | LDLR | c.2479G>A | p.Val827Ile | Missense | 17/18 | - |
2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
1-15813879-T-C | CELA2B | c.739T>C | p.Tyr247His | Missense | 7/8 | - |
14-64066108-T-C | WDR89 | c.553A>G | p.Met185Val | Missense | 3/3 | - |
2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
19-11226873-A-C | LDLR | c.1690A>C | p.Asn564His | Missense | 11/18 | - |
19-11216263-C-G | LDLR | c.681C>G | p.Asp227Glu | Missense | 4/18 | - |
19-11227605-GGGG-G | LDLR | c.1776_1778delGGG | p.Gly593delGly | InFrameDeletion | 12/18 | - |
19-48543899-C-G | CABP5 | c.201G>C | p.Met67Ile | Missense | 3/6 | - |
19-48543899-C-A | CABP5 | c.201G>T | p.Met67Ile | Missense | 3/6 | - |
10-90966334-T-G | CH25H | c.716A>C | p.His239Pro | Missense | 1/1 | - |
14-93649961-G-T | MOAP1 | c.627C>A | p.Ser209Arg | Missense | 3/3 | - |
14-93649961-G-C | MOAP1 | c.627C>G | p.Ser209Arg | Missense | 3/3 | - |
2-118864319-G-A | INSIG2 | c.376G>A | p.Asp126Asn | Missense | 4/6 | - |
19-11226868-G-A | LDLR | c.1685G>A | p.Trp562* | Nonsense | 11/18 | - |
19-11213420-G-C | LDLR | c.271G>C | p.Gly91Arg | Missense | 3/18 | - |
19-11215908-G-A | LDLR | c.326G>A | p.Cys109Tyr | Missense | 4/18 | - |
14-73572776-C-A | RBM25 | c.1364C>A | p.Ala455Asp | Missense | 11/19 | - |
11-125765239-A-G | PUS3 | c.824T>C | p.Leu275Pro | Missense | 3/4 | - |
14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
19-11223963-C-A | LDLR | c.1196C>A | p.Ala399Asp | Missense | 9/18 | - |
14-64065801-T-C | WDR89 | c.860A>G | p.Asp287Gly | Missense | 3/3 | - |
10-90966460-G-T | CH25H | c.590C>A | p.Pro197Gln | Missense | 1/1 | - |
14-73563750-C-T | RBM25 | c.671C>T | p.Ala224Val | Missense | 7/19 | - |
5-134223815-G-C | TXNDC15 | c.534G>C | p.Glu178Asp | Missense | 2/5 | - |
12-10602517-C-A | KLRC1 | c.333G>T | p.Gln111His | Missense | 4/7 | - |
12-10602517-C-G | KLRC1 | c.333G>C | p.Gln111His | Missense | 4/7 | - |
7-66104163-G-A | KCTD7 | c.814G>A | p.Val272Met | Missense | 4/4 | - |
19-11222279-C-T | LDLR | c.1150C>T | p.Gln384* | Nonsense | 8/18 | - |
14-93649669-T-C | MOAP1 | c.919A>G | p.Ile307Val | Missense | 3/3 | - |
5-134223815-G-T | TXNDC15 | c.534G>T | p.Glu178Asp | Missense | 2/5 | - |
14-93650112-C-G | MOAP1 | c.476G>C | p.Cys159Ser | Missense | 3/3 | - |
2-21229463-G-A | APOB | c.10277C>T | p.Ala3426Val | Missense | 26/29 | - |
14-64065840-A-G | WDR89 | c.821T>C | p.Leu274Ser | Missense | 3/3 | - |
11-125766106-A-G | PUS3 | c.74T>C | p.Val25Ala | Missense | 2/4 | - |
14-73538356-T-C | RBM25 | c.7T>C | p.Phe3Leu | Missense | 2/19 | - |
19-11221435-C-T | LDLR | c.1048C>T | p.Arg350* | Nonsense | 7/18 | - |
14-93650113-A-T | MOAP1 | c.475T>A | p.Cys159Ser | Missense | 3/3 | - |
19-11216084-G-C | LDLR | c.502G>C | p.Asp168His | Missense | 4/18 | - |
19-48542532-G-T | CABP5 | c.281C>A | p.Thr94Asn | Missense | 4/6 | - |
14-93650406-T-C | MOAP1 | c.182A>G | p.Asn61Ser | Missense | 3/3 | - |
11-125764189-A-G | PUS3 | c.945-8T>C | - | IntronicSNV | - | 3/3 |
12-10603578-G-A | KLRC1 | c.178C>T | p.His60Tyr | Missense | 2/7 | - |
1-15812478-G-A | CELA2B | c.576G>A | p.Trp192* | Nonsense | 6/8 | - |
19-48543899-C-T | CABP5 | c.201G>A | p.Met67Ile | Missense | 3/6 | - |
1-15812477-G-A | CELA2B | c.575G>A | p.Trp192* | Nonsense | 6/8 | - |
8-101719198-C-T | PABPC1 | c.1364G>A | p.Arg455His | Missense | 10/15 | - |
1-241672043-C-T | FH | c.598G>A | p.Ala200Thr | Missense | 5/10 | - |
2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
7-66104107-C-T | KCTD7 | c.758C>T | p.Ser253Leu | Missense | 4/4 | - |
2-21245819-C-A | APOB | c.2700G>T | p.Gln900His | Missense | 18/29 | - |
2-21245819-C-G | APOB | c.2700G>C | p.Gln900His | Missense | 18/29 | - |
7-66094142-G-A | KCTD7 | c.91G>A | p.Ala31Thr | Missense | 1/4 | - |
2-21255379-C-T | APOB | c.1199G>A | p.Arg400His | Missense | 10/29 | - |
11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
14-73580994-G-A | RBM25 | c.2392G>A | p.Val798Ile | Missense | 18/19 | - |
19-48543931-T-A | CABP5 | c.169A>T | p.Met57Leu | Missense | 3/6 | - |
14-93649933-G-C | MOAP1 | c.655C>G | p.Arg219Gly | Missense | 3/3 | - |
14-73538358-T-A | RBM25 | c.9T>A | p.Phe3Leu | Missense | 2/19 | - |
7-66103855-G-A | KCTD7 | c.506G>A | p.Arg169Gln | Missense | 4/4 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
19-11231199-G-A | LDLR | c.2140+1G>A | - | IntronicSNV | - | 14/17 |
2-118854221-T-C | INSIG2 | c.89T>C | p.Ile30Thr | Missense | 2/6 | - |
11-126242147-T-A | ST3GAL4 | c.-61+15950T>A | - | intron_variant | - | 1/10 |
11-126242147-T-G | ST3GAL4 | c.-61+15950T>G | - | intron_variant | - | 1/10 |