| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 12 | g.51913160C>A | CA384897609 | ACVRL1 | c.165C>A (p.Cys55Ter) c.123C>A (p.Cys41Ter) c.103+625C>A (n.103+625C>A) | gnomAD v4 |
| 12 | g.51913160C>G | CA384897610 | ACVRL1 | c.165C>G (p.Cys55Trp) c.123C>G (p.Cys41Trp) c.103+625C>G (n.103+625C>G) | |
| 12 | g.51913160C>T | CA480063075 | ACVRL1 | c.165C>T (p.Cys55=) c.123C>T (p.Cys41=) c.103+625C>T (n.103+625C>T) | |
| 12 | g.51913161A= | CA2036266941 | ACVRL1 | c.166A= (p.Lys56=) c.124A= (p.Lys42=) c.103+626A= (n.103+626A=) | |
| 12 | g.51913161A>C | CA384897613 | ACVRL1 | c.166A>C (p.Lys56Gln) c.124A>C (p.Lys42Gln) c.103+626A>C (n.103+626A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913161A>G | CA384897615 | ACVRL1 | c.166A>G (p.Lys56Glu) c.124A>G (p.Lys42Glu) c.103+626A>G (n.103+626A>G) | |
| 12 | g.51913161A>T | CA384897618 | ACVRL1 | c.166A>T (p.Lys56Ter) c.124A>T (p.Lys42Ter) c.103+626A>T (n.103+626A>T) | |
| 12 | g.51913162A= | CA2036266943 | ACVRL1 | c.167A= (p.Lys56=) c.125A= (p.Lys42=) c.103+627A= (n.103+627A=) | |
| 12 | g.51913162A>C | CA384897621 | ACVRL1 | c.167A>C (p.Lys56Thr) c.125A>C (p.Lys42Thr) c.103+627A>C (n.103+627A>C) | |
| 12 | g.51913162A>G | CA384897623 | ACVRL1 | c.167A>G (p.Lys56Arg) c.125A>G (p.Lys42Arg) c.103+627A>G (n.103+627A>G) | |
| 12 | g.51913162A>T | CA384897624 | ACVRL1 | c.167A>T (p.Lys56Met) c.125A>T (p.Lys42Met) c.103+627A>T (n.103+627A>T) | gnomAD v4 |
| 12 | g.51913163G>A | CA480063079 | ACVRL1 | c.168G>A (p.Lys56=) c.126G>A (p.Lys42=) c.103+628G>A (n.103+628G>A) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51913163G>C | CA384897627 | ACVRL1 | c.168G>C (p.Lys56Asn) c.126G>C (p.Lys42Asn) c.103+628G>C (n.103+628G>C) | |
| 12 | g.51913163G>T | CA384897625 | ACVRL1 | c.168G>T (p.Lys56Asn) c.126G>T (p.Lys42Asn) c.103+628G>T (n.103+628G>T) | gnomAD v4 |
| 12 | g.51913166dup | CA1139662693 | ACVRL1 | c.171dup (p.Pro58AlafsTer?) c.129dup (p.Pro44AlafsTer?) c.103+631dup (n.103+631dup) | ClinVar dbSNP |
| 12 | g.51913167_51913180del | CA2573148773 | ACVRL1 | c.172_185del (p.Pro58GlyfsTer?) c.130_143del (p.Pro44GlyfsTer?) c.103+632_103+645del (n.103+632_103+645del) | ClinVar dbSNP |
| 12 | g.51913170_51913185del | CA2580086428 | ACVRL1 | c.175_190del (p.Thr59GlyfsTer4) c.133_148del (p.Thr45GlyfsTer4) c.103+635_103+650del (n.103+635_103+650del) | ClinVar |
| 12 | g.51913164G>A | CA6572819 | ACVRL1 | c.169G>A (p.Gly57Arg) c.127G>A (p.Gly43Arg) c.103+629G>A (n.103+629G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913164G>C | CA384897630 | ACVRL1 | c.169G>C (p.Gly57Arg) c.127G>C (p.Gly43Arg) c.103+629G>C (n.103+629G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913164G= | CA2036266953 | ACVRL1 | c.169G= (p.Gly57=) c.127G= (p.Gly43=) c.103+629G= (n.103+629G=) | |
| 12 | g.51913164G>T | CA384897632 | ACVRL1 | c.169G>T (p.Gly57Trp) c.127G>T (p.Gly43Trp) c.103+629G>T (n.103+629G>T) | gnomAD v4 |
| 12 | g.51913165G>A | CA384897634 | ACVRL1 | c.170G>A (p.Gly57Glu) c.128G>A (p.Gly43Glu) c.103+630G>A (n.103+630G>A) |