| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51912505_51912524del | CA913185028 | ACVRL1 | c.73_92del (p.Leu25GlyfsTer20) c.31_50del (p.Leu11GlyfsTer20) c.73_92del (p.Leu25GlyfsTer19) | |
| 12 | g.51912510_51912511delinsGC | CA2036266291 | ACVRL1 | c.78_79delinsGC (p.Met26=) c.36_37delinsGC (p.Met12=) | |
| 12 | g.51912511del | CA645293883 | ACVRL1 | c.79del (p.Leu27CysfsTer2) c.37del (p.Leu13CysfsTer2) | ClinVar dbSNP |
| 12 | g.51912511C>A | CA384896576 | ACVRL1 | c.79C>A (p.Leu27Met) c.37C>A (p.Leu13Met) | |
| 12 | g.51912511C>G | CA384896579 | ACVRL1 | c.79C>G (p.Leu27Val) c.37C>G (p.Leu13Val) | |
| 12 | g.51912511C>T | CA479804336 | ACVRL1 | c.79C>T (p.Leu27=) c.37C>T (p.Leu13=) | |
| 12 | g.51912512T>A | CA384896584 | ACVRL1 | c.80T>A (p.Leu27Gln) c.38T>A (p.Leu13Gln) | |
| 12 | g.51912512T>C | CA384896589 | ACVRL1 | c.80T>C (p.Leu27Pro) c.38T>C (p.Leu13Pro) | |
| 12 | g.51912512T>G | CA384896594 | ACVRL1 | c.80T>G (p.Leu27Arg) c.38T>G (p.Leu13Arg) | |
| 12 | g.51912513G>A | CA479804338 | ACVRL1 | c.81G>A (p.Leu27=) c.39G>A (p.Leu13=) | gnomAD v4 |
| 12 | g.51912513G>C | CA479804340 | ACVRL1 | c.81G>C (p.Leu27=) c.39G>C (p.Leu13=) | |
| 12 | g.51912513G>T | CA479804342 | ACVRL1 | c.81G>T (p.Leu27=) c.39G>T (p.Leu13=) | |
| 12 | g.51912514C>A | CA384896596 | ACVRL1 | c.82C>A (p.Leu28Met) c.40C>A (p.Leu14Met) | |
| 12 | g.51912514C= | CA2036266302 | ACVRL1 | c.82C= (p.Leu28=) c.40C= (p.Leu14=) | |
| 12 | g.51912514C>G | CA384896600 | ACVRL1 | c.82C>G (p.Leu28Val) c.40C>G (p.Leu14Val) | |
| 12 | g.51912514C>T | CA479804343 | ACVRL1 | c.82C>T (p.Leu28=) c.40C>T (p.Leu14=) | dbSNP gnomAD v4 |
| 12 | g.51912515T>A | CA384896605 | ACVRL1 | c.83T>A (p.Leu28Gln) c.41T>A (p.Leu14Gln) | |
| 12 | g.51912515T>C | CA384896607 | ACVRL1 | c.83T>C (p.Leu28Pro) c.41T>C (p.Leu14Pro) | |
| 12 | g.51912515T>G | CA384896615 | ACVRL1 | c.83T>G (p.Leu28Arg) c.41T>G (p.Leu14Arg) | |
| 12 | g.51912515dup | CA16614035 | ACVRL1 | c.83dup (p.Met29AspfsTer23) c.41dup (p.Met15AspfsTer23) c.83dup (p.Met29AspfsTer22) | ClinVar dbSNP |
| 12 | g.51912516G>A | CA479804346 | ACVRL1 | c.84G>A (p.Leu28=) c.42G>A (p.Leu14=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51912516G>C | CA479804345 | ACVRL1 | c.84G>C (p.Leu28=) c.42G>C (p.Leu14=) | ClinVar |
| 12 | g.51912516G= | CA2036266309 | ACVRL1 | c.84G= (p.Leu28=) c.42G= (p.Leu14=) | |
| 12 | g.51912516G>T | CA479804344 | ACVRL1 | c.84G>T (p.Leu28=) c.42G>T (p.Leu14=) | gnomAD v4 |
| 12 | g.51912517A>C | CA384896619 | ACVRL1 | c.85A>C (p.Met29Leu) c.43A>C (p.Met15Leu) | |
| 12 | g.51912517A>G | CA384896624 | ACVRL1 | c.85A>G (p.Met29Val) c.43A>G (p.Met15Val) | |
| 12 | g.51912517A>T | CA384896622 | ACVRL1 | c.85A>T (p.Met29Leu) c.43A>T (p.Met15Leu) | |
| 12 | g.51912518T>A | CA384896626 | ACVRL1 | c.86T>A (p.Met29Lys) c.44T>A (p.Met15Lys) | |
| 12 | g.51912518T>C | CA384896630 | ACVRL1 | c.86T>C (p.Met29Thr) c.44T>C (p.Met15Thr) | gnomAD v4 |
| 12 | g.51912518T>G | CA384896634 | ACVRL1 | c.86T>G (p.Met29Arg) c.44T>G (p.Met15Arg) | |
| 12 | g.51912519G>A | CA384896637 | ACVRL1 | c.87G>A (p.Met29Ile) c.45G>A (p.Met15Ile) | |
| 12 | g.51912519G>C | CA384896639 | ACVRL1 | c.87G>C (p.Met29Ile) c.45G>C (p.Met15Ile) | |
| 12 | g.51912519G>T | CA384896643 | ACVRL1 | c.87G>T (p.Met29Ile) c.45G>T (p.Met15Ile) | |
| 12 | g.51912520G>A | CA384896653 | ACVRL1 | c.88G>A (p.Ala30Thr) c.46G>A (p.Ala16Thr) | |
| 12 | g.51912520G>C | CA384896659 | ACVRL1 | c.88G>C (p.Ala30Pro) c.46G>C (p.Ala16Pro) | |
| 12 | g.51912520G>T | CA384896661 | ACVRL1 | c.88G>T (p.Ala30Ser) c.46G>T (p.Ala16Ser) | |
| 12 | g.51912521C>A | CA384896669 | ACVRL1 | c.89C>A (p.Ala30Asp) c.47C>A (p.Ala16Asp) | |
| 12 | g.51912521C= | CA2036266311 | ACVRL1 | c.89C= (p.Ala30=) c.47C= (p.Ala16=) | |
| 12 | g.51912521C>G | CA6572787 | ACVRL1 | c.89C>G (p.Ala30Gly) c.47C>G (p.Ala16Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51912521C>T | CA384896664 | ACVRL1 | c.89C>T (p.Ala30Val) c.47C>T (p.Ala16Val) | |
| 12 | g.51912522C>A | CA479804352 | ACVRL1 | c.90C>A (p.Ala30=) c.48C>A (p.Ala16=) | |
| 12 | g.51912522C= | CA2036266314 | ACVRL1 | c.90C= (p.Ala30=) c.48C= (p.Ala16=) | |
| 12 | g.51912522C>G | CA479804354 | ACVRL1 | c.90C>G (p.Ala30=) c.48C>G (p.Ala16=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51912522C>T | CA479804353 | ACVRL1 | c.90C>T (p.Ala30=) c.48C>T (p.Ala16=) | |
| 12 | g.51912523T>A | CA384896670 | ACVRL1 | c.91T>A (p.Leu31Met) c.49T>A (p.Leu17Met) | |
| 12 | g.51912523T>C | CA236361368 | ACVRL1 | c.91T>C (p.Leu31=) c.49T>C (p.Leu17=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51912523T>G | CA384896671 | ACVRL1 | c.91T>G (p.Leu31Val) c.49T>G (p.Leu17Val) | |
| 12 | g.51912523T= | CA2036266318 | ACVRL1 | c.91T= (p.Leu31=) c.49T= (p.Leu17=) | |
| 12 | g.51912524dup | CA2573148771 | ACVRL1 | c.92dup (p.Leu31PhefsTer21) c.50dup (p.Leu17PhefsTer21) c.92dup (p.Leu31PhefsTer20) | ClinVar dbSNP |
| 12 | g.51912524_51912527del | CA2695216659 | ACVRL1 | c.92_95del (p.Leu31Ter) c.50_53del (p.Leu17Ter) |