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Analysis: A_clcad2_test

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Variants

174 variants (total)
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Summary

Variant List

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Genes Position Ref Patient Read Depth Type Location Transcript Effect Exon c. p. Classification Confirmed Classification References Similarities Info Report Actions
TNNT2 1:201,341,176-201,341,180 AGAAG AGAAG . 281 deletion intronic NM_001276347.1 4 c.53-11_53-7delCTTCT S O M L
ACTN2 1:236,882,303 T C 265 snp exonic NM_001103.3 synonymous 3 c.351T>C p.Ile117Ile Likely benign S O M
ACTN2 1:236,883,421 C T 234 snp exonic NM_001103.3 synonymous 4 c.378C>T p.Asn126Asn S O M
ACTN2 1:236,902,594 C G 162 snp intronic NM_001278344.1 12 c.253-8C>G S O M
RYR2 1:237,617,757 C T 248 snp exonic NM_001035.2 synonymous 15 c.1359C>T p.Ser453Ser S O M
RYR2 1:237,711,797 A G 249 snp exonic NM_001035.2 synonymous 26 c.2973A>G p.Ser991Ser S O M
RYR2 1:237,801,770 T C 272 snp exonic NM_001035.2 synonymous 45 c.6906T>C p.Leu2302Leu S O M
RYR2 1:237,863,718 T G 175 snp exonic NM_001035.2 synonymous 65 c.9318T>G p.Ser3106Ser S O M
RYR2 1:237,881,770 C T 251 snp exonic NM_001035.2 synonymous 73 c.10503C>T p.Thr3501Thr S O M
RYR2 1:237,890,437 C T 223 snp exonic NM_001035.2 synonymous 76 c.10776C>T p.Ser3592Ser S O M
RYR2 1:237,957,161 A G 196 snp intronic NM_001035.2 95 c.13783-6A>G S O M
APOB 2:21,225,113 A A G 201 snp exonic NM_000384.2 nonsynonymous 29 c.13181T>C p.Val4394Ala O M L
APOB 2:21,225,281 C T 211 snp exonic NM_000384.2 nonsynonymous 29 c.13013G>A p.Ser4338Asn S O M
APOB 2:21,232,195 G G A 249 snp exonic NM_000384.2 synonymous 26 c.7545C>T p.Thr2515Thr S O M
APOB 2:21,232,803 T C 219 snp exonic NM_000384.2 nonsynonymous 26 c.6937A>G p.Ile2313Val O M
APOB 2:21,232,803-21,232,804 TG CA 219 substitution exonic NM_000384.2 inframe 26 c.6936_6937delCAinsTG p.Asp2312_Val2313delinsAspVal O M
APOB 2:21,235,475 T C 222 snp exonic NM_000384.2 nonsynonymous 26 c.4265A>G p.Tyr1422Cys S O M
APOB 2:21,263,900 G G A 249 snp exonic NM_000384.2 nonsynonymous 4 c.293C>T p.Thr98Ile S O M L
TTN-AS1 2:179,413,452 G G A 342 snp ncRNA_intronic NR_038272.1 7 c.2043+6364G>A
TTN 2:179,413,452 G G A 342 snp exonic NM_001267550.1 synonymous 339 c.92901C>T p.Ser30967Ser O M

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