| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 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 | - |
| 19-48543899-C-T | CABP5 | c.201G>A | p.Met67Ile | Missense | 3/6 | - |
| 7-66094142-G-A | KCTD7 | c.91G>A | p.Ala31Thr | Missense | 1/4 | - |
| 14-73580994-G-A | RBM25 | c.2392G>A | p.Val798Ile | Missense | 18/19 | - |
| 14-93649933-G-C | MOAP1 | c.655C>G | p.Arg219Gly | Missense | 3/3 | - |
| 14-64066108-T-C | WDR89 | c.553A>G | p.Met185Val | Missense | 3/3 | - |
| 14-64065840-A-G | WDR89 | c.821T>C | p.Leu274Ser | Missense | 3/3 | - |
| 19-11226873-A-C | LDLR | c.1690A>C | p.Asn564His | Missense | 11/18 | - |
| 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 | - |
| 14-93649961-G-T | MOAP1 | c.627C>A | p.Ser209Arg | Missense | 3/3 | - |
| 2-118854368-C-T | INSIG2 | c.236C>T | p.Thr79Met | Missense | 2/6 | - |
| 19-48543899-C-A | CABP5 | c.201G>T | p.Met67Ile | Missense | 3/6 | - |
| 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 | - |
| 2-118864319-G-A | INSIG2 | c.376G>A | p.Asp126Asn | Missense | 4/6 | - |
| 14-93650406-T-C | MOAP1 | c.182A>G | p.Asn61Ser | Missense | 3/3 | - |
| 5-134223789-C-G | TXNDC15 | c.508C>G | p.Leu170Val | Missense | 2/5 | - |
| 19-48543899-C-G | CABP5 | c.201G>C | p.Met67Ile | Missense | 3/6 | - |
| 19-11213420-G-C | LDLR | c.271G>C | p.Gly91Arg | Missense | 3/18 | - |
| 10-90966334-T-G | CH25H | c.716A>C | p.His239Pro | Missense | 1/1 | - |
| 14-73572685-A-G | RBM25 | c.1273A>G | p.Arg425Gly | Missense | 11/19 | - |
| 14-93649881-G-A | MOAP1 | c.707C>T | p.Ala236Val | Missense | 3/3 | - |
| 14-93649961-G-C | MOAP1 | c.627C>G | p.Ser209Arg | Missense | 3/3 | - |
| 1-25890173-CT-C | LDLRAP1 | c.638delT | p.Leu213Argfs*3 | Frameshift | 7/9 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
| 14-73538358-T-A | RBM25 | c.9T>A | p.Phe3Leu | Missense | 2/19 | - |
| 14-73572776-C-A | RBM25 | c.1364C>A | p.Ala455Asp | Missense | 11/19 | - |
| 14-93649963-T-G | MOAP1 | c.625A>C | p.Ser209Arg | Missense | 3/3 | - |
| 2-118854221-T-C | INSIG2 | c.89T>C | p.Ile30Thr | Missense | 2/6 | - |
| 12-10602517-C-A | KLRC1 | c.333G>T | p.Gln111His | Missense | 4/7 | - |
| 14-93650112-C-G | MOAP1 | c.476G>C | p.Cys159Ser | Missense | 3/3 | - |
| 12-10602517-C-G | KLRC1 | c.333G>C | p.Gln111His | Missense | 4/7 | - |
| 14-64065801-T-C | WDR89 | c.860A>G | p.Asp287Gly | Missense | 3/3 | - |
| 14-73563750-C-T | RBM25 | c.671C>T | p.Ala224Val | Missense | 7/19 | - |
| 2-21265322-G-A | APOB | c.148C>T | p.Arg50Trp | Missense | 3/29 | - |
| 14-73538399-T-C | RBM25 | c.50T>C | p.Leu17Pro | Missense | 2/19 | - |
| 14-73554780-A-T | RBM25 | c.454A>T | p.Ile152Phe | Missense | 6/19 | - |
| 5-134223815-G-C | TXNDC15 | c.534G>C | p.Glu178Asp | Missense | 2/5 | - |
| 1-15812477-G-A | CELA2B | c.575G>A | p.Trp192* | Nonsense | 6/8 | - |
| 7-66104163-G-A | KCTD7 | c.814G>A | p.Val272Met | Missense | 4/4 | - |
| 14-93650324-G-C | MOAP1 | c.264C>G | p.Ile88Met | Missense | 3/3 | - |
| 14-93649669-T-C | MOAP1 | c.919A>G | p.Ile307Val | 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 | - |
| 19-48542532-G-T | CABP5 | c.281C>A | p.Thr94Asn | Missense | 4/6 | - |
| 14-73538358-T-G | RBM25 | c.9T>G | p.Phe3Leu | Missense | 2/19 | - |
| 19-48543931-T-G | CABP5 | c.169A>C | p.Met57Leu | Missense | 3/6 | - |
| 10-90966308-A-C | CH25H | c.742T>G | p.Cys248Gly | Missense | 1/1 | - |
| 1-16344253-C-T | HSPB7 | c.199+7G>A | - | IntronicSNV | - | 1/2 |
| 11-125764189-A-G | PUS3 | c.945-8T>C | - | IntronicSNV | - | 3/3 |
| 1-15812478-G-A | CELA2B | c.576G>A | p.Trp192* | Nonsense | 6/8 | - |
| 12-10603578-G-A | KLRC1 | c.178C>T | p.His60Tyr | Missense | 2/7 | - |
| 10-90966460-G-T | CH25H | c.590C>A | p.Pro197Gln | Missense | 1/1 | - |
| 8-101721447-T-G | PABPC1 | c.1250A>C | p.Gln417Pro | Missense | 9/15 | - |
| 7-66104107-C-T | KCTD7 | c.758C>T | p.Ser253Leu | Missense | 4/4 | - |
| 19-11240196-TCGTCTTCCT-T | LDLR | c.2397_2405delCGTCTTCCT | p.Val800_leu802del | InFrameDeletion | 17/18 | - |
| 8-101719198-C-T | PABPC1 | c.1364G>A | p.Arg455His | Missense | 10/15 | - |
| 19-48543931-T-A | CABP5 | c.169A>T | p.Met57Leu | Missense | 3/6 | - |
| 5-134223815-G-T | TXNDC15 | c.534G>T | p.Glu178Asp | Missense | 2/5 | - |
| 1-15813879-T-C | CELA2B | c.739T>C | p.Tyr247His | Missense | 7/8 | - |
| 11-125765239-A-G | PUS3 | c.824T>C | p.Leu275Pro | Missense | 3/4 | - |
| 14-93650113-A-T | MOAP1 | c.475T>A | p.Cys159Ser | Missense | 3/3 | - |