Table 1.
Summary of Somatic Mutation Discovery and Validation Sequencing
| Sample ID | Germline Mutation | Somatic Mutation | Discovery Readsa | Validation Readsa | Constitutional Readsa |
|---|---|---|---|---|---|
| 6001-1 |
ENG c.1080_1083delGACA p.Thr361Serfs∗7 |
ENG c.293_304del p.Val98_Asn102delinsAsp |
33/1318 (2.5%) | 1067/100268 (1.1%) | 0/26462 (0%)b |
| 6001-3 | same as above |
ENG c.1195_1196del p.Arg399Glyfs∗2 |
5/1080 (0.46%) | 723/115963 (0.62%) | 0/24357 (0%)b |
| 6001-7 | same as above |
ENG c.1237_1238insCA p.Gly413Alafs∗9 |
27/5127 (0.53%) | 341/115570 (0.30%) | 0/23066 (0%)b |
| 6001-8 | same as above |
ENG c.578delinsTGCG p.Thr193delinsMetArg |
111/4845 (2.3%) | 1142/142572 (0.80%) | 0/21315 (0%)b |
| 6001-10 | same as above |
ENG c.205del p.Leu69Trpfs∗12 |
33/3389 (1.0%) | 3575/326894 (1.1%) | 0/22098 (0%)b |
| 6001-2,4,5,6,9,11,12,13 | same as above | NF | - | - | - |
| 6002-1 | ACVRL1 c.1451G>A p.Arg484Gln |
ACVRL1 c.349delinsTT p.Gly117Leufs∗52 |
20/2217 (0.90%) | 309/24018 (1.3%) | 0/65818 (0%) |
| 6002-2 | same as above |
ACVRL1 c.[1378-3del; 1381_1398del; 1402A>C]c p.[Leu461_Gln466del; Met468Leu]c |
26/1649 (1.6%) | 3189/202550 (1.6%) | 6/155855 (0.0038%) |
| 6003-1 |
ACVRL1 c.474A>T p.Gly158 = |
ACVRL1 c.625+4A>T | 101/3392 (3.0%) | 372/16303 (2.3%) | 2/38924 (0.0051%) |
| 6004-1 |
ACVRL1 c.1232G>A p.Arg411Gln |
NF | - | - | - |
| 6004-2 | same as above | NF | - | - | - |
| 6005-1 |
ACVRL1 c.1232G>A p.Arg411Gln |
ACVRL1 c.1206del p.Leu403Trpfs∗12 |
133/1664 (8.0%) | 2671/189690 (1.4%) | N/A |
ENG: RefSeq accession number NM_001114753.1 (ENG_v001)
ACVRL1: RefSeq NM_000020.2 (ACVRL1_v001)
For multiple telangiectasia collected from one individual, the sample ID is listed as (Individual#)-(Telangiectasia#)
NF = None Found
a
Only bases >Q15 included
b
Allele frequency in other telangiectasia from 6001
c
Components of a single complex mutation