| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913137_51913152del | CA2695216663 | ACVRL1 | c.142_157del (p.Cys48HisfsTer15) c.100_115del (p.Cys34HisfsTer15) c.103+602_103+617del (n.103+602_103+617del) | |
| 12 | g.51913147A>C | CA384897554 | ACVRL1 | c.152A>C (p.Glu51Ala) c.110A>C (p.Glu37Ala) c.103+612A>C (n.103+612A>C) | |
| 12 | g.51913147A>G | CA384897556 | ACVRL1 | c.152A>G (p.Glu51Gly) c.110A>G (p.Glu37Gly) c.103+612A>G (n.103+612A>G) | |
| 12 | g.51913147A>T | CA384897555 | ACVRL1 | c.152A>T (p.Glu51Val) c.110A>T (p.Glu37Val) c.103+612A>T (n.103+612A>T) | |
| 12 | g.51913148G>A | CA6572817 | ACVRL1 | c.153G>A (p.Glu51=) c.111G>A (p.Glu37=) c.103+613G>A (n.103+613G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913148G>C | CA384897557 | ACVRL1 | c.153G>C (p.Glu51Asp) c.111G>C (p.Glu37Asp) c.103+613G>C (n.103+613G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913148G= | CA2036266926 | ACVRL1 | c.153G= (p.Glu51=) c.111G= (p.Glu37=) c.103+613G= (n.103+613G=) | |
| 12 | g.51913148G>T | CA384897558 | ACVRL1 | c.153G>T (p.Glu51Asp) c.111G>T (p.Glu37Asp) c.103+613G>T (n.103+613G>T) | |
| 12 | g.51913149A>C | CA384897559 | ACVRL1 | c.154A>C (p.Ser52Arg) c.112A>C (p.Ser38Arg) c.103+614A>C (n.103+614A>C) | |
| 12 | g.51913149A>G | CA384897560 | ACVRL1 | c.154A>G (p.Ser52Gly) c.112A>G (p.Ser38Gly) c.103+614A>G (n.103+614A>G) | |
| 12 | g.51913149A>T | CA384897561 | ACVRL1 | c.154A>T (p.Ser52Cys) c.112A>T (p.Ser38Cys) c.103+614A>T (n.103+614A>T) | ClinVar |
| 12 | g.51913150G>A | CA384897562 | ACVRL1 | c.155G>A (p.Ser52Asn) c.113G>A (p.Ser38Asn) c.103+615G>A (n.103+615G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913150G>C | CA384897563 | ACVRL1 | c.155G>C (p.Ser52Thr) c.113G>C (p.Ser38Thr) c.103+615G>C (n.103+615G>C) | |
| 12 | g.51913150G= | CA2036266927 | ACVRL1 | c.155G= (p.Ser52=) c.113G= (p.Ser38=) c.103+615G= (n.103+615G=) | |
| 12 | g.51913150G>T | CA384897565 | ACVRL1 | c.155G>T (p.Ser52Ile) c.113G>T (p.Ser38Ile) c.103+615G>T (n.103+615G>T) | gnomAD v4 |
| 12 | g.51913151C>A | CA384897568 | ACVRL1 | c.156C>A (p.Ser52Arg) c.114C>A (p.Ser38Arg) c.103+616C>A (n.103+616C>A) | gnomAD v4 |
| 12 | g.51913151C>G | CA384897569 | ACVRL1 | c.156C>G (p.Ser52Arg) c.114C>G (p.Ser38Arg) c.103+616C>G (n.103+616C>G) | |
| 12 | g.51913151C>T | CA480063062 | ACVRL1 | c.156C>T (p.Ser52=) c.114C>T (p.Ser38=) c.103+616C>T (n.103+616C>T) | gnomAD v4 |
| 12 | g.51913152_51913153del | CA2499221743 | ACVRL1 | c.157_158del (p.Pro53ThrfsTer?) c.115_116del (p.Pro39ThrfsTer?) c.103+617_103+618del (n.103+617_103+618del) | ClinVar dbSNP |
| 12 | g.51913152_51913155dup | CA2695216664 | ACVRL1 | c.157_160dup (p.His54ProfsTer?) c.115_118dup (p.His40ProfsTer?) c.103+617_103+620dup (n.103+617_103+620dup) | |
| 12 | g.51913152C>A | CA384897571 | ACVRL1 | c.157C>A (p.Pro53Thr) c.115C>A (p.Pro39Thr) c.103+617C>A (n.103+617C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913152C= | CA2036266930 | ACVRL1 | c.157C= (p.Pro53=) c.115C= (p.Pro39=) c.103+617C= (n.103+617C=) | |
| 12 | g.51913152C>G | CA384897575 | ACVRL1 | c.157C>G (p.Pro53Ala) c.115C>G (p.Pro39Ala) c.103+617C>G (n.103+617C>G) | |
| 12 | g.51913152C>T | CA384897573 | ACVRL1 | c.157C>T (p.Pro53Ser) c.115C>T (p.Pro39Ser) c.103+617C>T (n.103+617C>T) | gnomAD v4 |
| 12 | g.51913153C>A | CA384897577 | ACVRL1 | c.158C>A (p.Pro53Gln) c.116C>A (p.Pro39Gln) c.103+618C>A (n.103+618C>A) | |
| 12 | g.51913153C= | CA2036266931 | ACVRL1 | c.158C= (p.Pro53=) c.116C= (p.Pro39=) c.103+618C= (n.103+618C=) | |
| 12 | g.51913153C>G | CA384897579 | ACVRL1 | c.158C>G (p.Pro53Arg) c.116C>G (p.Pro39Arg) c.103+618C>G (n.103+618C>G) | gnomAD v4 |
| 12 | g.51913153C>T | CA384897581 | ACVRL1 | c.158C>T (p.Pro53Leu) c.116C>T (p.Pro39Leu) c.103+618C>T (n.103+618C>T) | dbSNP gnomAD v2 |
| 12 | g.51913154A>C | CA480063066 | ACVRL1 | c.159A>C (p.Pro53=) c.117A>C (p.Pro39=) c.103+619A>C (n.103+619A>C) | |
| 12 | g.51913154A>G | CA480063068 | ACVRL1 | c.159A>G (p.Pro53=) c.117A>G (p.Pro39=) c.103+619A>G (n.103+619A>G) | |
| 12 | g.51913154A>T | CA480063067 | ACVRL1 | c.159A>T (p.Pro53=) c.117A>T (p.Pro39=) c.103+619A>T (n.103+619A>T) | |
| 12 | g.51913155C>A | CA384897582 | ACVRL1 | c.160C>A (p.His54Asn) c.118C>A (p.His40Asn) c.103+620C>A (n.103+620C>A) | |
| 12 | g.51913155C>G | CA384897584 | ACVRL1 | c.160C>G (p.His54Asp) c.118C>G (p.His40Asp) c.103+620C>G (n.103+620C>G) | |
| 12 | g.51913155C>T | CA384897586 | ACVRL1 | c.160C>T (p.His54Tyr) c.118C>T (p.His40Tyr) c.103+620C>T (n.103+620C>T) | gnomAD v4 |
| 12 | g.51913156A= | CA2036266933 | ACVRL1 | c.161A= (p.His54=) c.119A= (p.His40=) c.103+621A= (n.103+621A=) | |
| 12 | g.51913156A>C | CA384897588 | ACVRL1 | c.161A>C (p.His54Pro) c.119A>C (p.His40Pro) c.103+621A>C (n.103+621A>C) | |
| 12 | g.51913156A>G | CA384897590 | ACVRL1 | c.161A>G (p.His54Arg) c.119A>G (p.His40Arg) c.103+621A>G (n.103+621A>G) | |
| 12 | g.51913156A>T | CA384897594 | ACVRL1 | c.161A>T (p.His54Leu) c.119A>T (p.His40Leu) c.103+621A>T (n.103+621A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913157T>A | CA384897596 | ACVRL1 | c.162T>A (p.His54Gln) c.120T>A (p.His40Gln) c.103+622T>A (n.103+622T>A) | |
| 12 | g.51913157T>C | CA6572818 | ACVRL1 | c.162T>C (p.His54=) c.120T>C (p.His40=) c.103+622T>C (n.103+622T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913157T>G | CA384897599 | ACVRL1 | c.162T>G (p.His54Gln) c.120T>G (p.His40Gln) c.103+622T>G (n.103+622T>G) | |
| 12 | g.51913157T= | CA2036266934 | ACVRL1 | c.162T= (p.His54=) c.120T= (p.His40=) c.103+622T= (n.103+622T=) | |
| 12 | g.51913158T>A | CA384897603 | ACVRL1 | c.163T>A (p.Cys55Ser) c.121T>A (p.Cys41Ser) c.103+623T>A (n.103+623T>A) | |
| 12 | g.51913158T>C | CA384897601 | ACVRL1 | c.163T>C (p.Cys55Arg) c.121T>C (p.Cys41Arg) c.103+623T>C (n.103+623T>C) | COSMIC COSMIC |
| 12 | g.51913158T>G | CA384897602 | ACVRL1 | c.163T>G (p.Cys55Gly) c.121T>G (p.Cys41Gly) c.103+623T>G (n.103+623T>G) | ClinVar dbSNP |
| 12 | g.51913161_51913175del | CA2573148772 | ACVRL1 | c.166_180del (p.Lys56_Cys60del) c.124_138del (p.Lys42_Cys46del) c.103+626_103+640del (n.103+626_103+640del) | ClinVar dbSNP |
| 12 | g.51913159G>A | CA384897604 | ACVRL1 | c.164G>A (p.Cys55Tyr) c.122G>A (p.Cys41Tyr) c.103+624G>A (n.103+624G>A) | ClinVar dbSNP gnomAD v2 |
| 12 | g.51913159G>C | CA384897606 | ACVRL1 | c.164G>C (p.Cys55Ser) c.122G>C (p.Cys41Ser) c.103+624G>C (n.103+624G>C) | |
| 12 | g.51913159G= | CA2036266937 | ACVRL1 | c.164G= (p.Cys55=) c.122G= (p.Cys41=) c.103+624G= (n.103+624G=) | |
| 12 | g.51913159G>T | CA384897608 | ACVRL1 | c.164G>T (p.Cys55Phe) c.122G>T (p.Cys41Phe) c.103+624G>T (n.103+624G>T) | gnomAD v4 |