Table 1.
Chromosome:position | Reference Allele | Alternate Allele |
Mutation type | Gene | HGVS protein notation |
ClinVar 9/30/18 | rsID dbSNP 151 |
---|---|---|---|---|---|---|---|
2:189858169 | G | A | Nonsynonymous | COL3A1 | p.G378D | NA | |
3:30732950 | G | A | Stop Gain | TGFBR2 | p.W521* | VUS for non-aortic phenotype | |
5:121412592 | CCAGA | C | Frameshift | LOX | p.Cys244fs | NA | rs779512296† |
10:53227579 | G | A | Nonsynonymous | PRKG1 | p.R177Q | Pathogenic | rs397515330 |
15:48707913 | T | C | Nonsynonymous | FBN1 | p.N2624S | VUS | |
15:48713849 | G | C | Nonsynonymous | FBN1 | p.C2535W | Pathogenic | |
15:48714232 | C | A | Nonsynonymous | FBN1 | p.C2496F | Likely pathogenic | |
15:48719947 | TGAAGCAGTACCCTTCCC | T | Frameshift | FBN1 | p.R2335fs | NA | |
15:48722967 | A | G | Nonsynonymous | FBN1 | p.C2258R | Pathogenic | rs1057520617 |
15:48725107 | C | T | Nonsynonymous | FBN1 | p.C2232Y | Pathogenic | rs1060501054 |
15:48730109 | G | A | Stop Gain | FBN1 | p.R2057* | Pathogenic | rs763091520 |
15:48744873 | C | T | Nonsynonymous | FBN1 | p.E1811K | Conflicting interpretation of pathogenicity | rs761857514† |
15:48760660 | A | G | Nonsynonymous | FBN1 | p.C1511R | Likely pathogenic | rs397515811 |
15:48764793 | A | G | Nonsynonymous | FBN1 | p.C1431R | NA | |
15:48773870 | C | CT | Frameshift | FBN1 | p.G1316fs | Likely pathogenic | |
15:48782066 | C | A | Stop Gain | FBN1 | p.G1022* | NA | rs794728171 |
15:48786401 | C | G | Nonsynonymous | FBN1 | p.D910H | NA | |
15:48802264 | G | GT | Frameshift | FBN1 | p.Thr564fs | Likely pathogenic | |
15:48802366 | T | C | Nonsynonymous | FBN1 | p.D530G | VUS | |
15:48808561 | T | C | Essential Splice Site | FBN1 | . | Pathogenic | rs397515756 |
15:48812913 | G | A | Stop Gain | FBN1 | p.R364* | Pathogenic | rs794728165 |
15:48888576 | C | T | Essential Splice Site | FBN1 | . | Likely pathogenic | |
15:67457370 | TGAA | T | In frame deletion | SMAD3 | p.K116del | NA | |
15:67462935 | TA | T | Frameshift | SMAD3 | p.Asn218fs | Pathogenic | rs587776881 |
Also present in gnomAD version 2.1