| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.51913167_51913183delinsTGCACAGTAGTG | CA2580086430 | ACVRL1 | c.172_188delinsTGCACAGTAGTG (p.Pro58CysfsTer?) c.130_146delinsTGCACAGTAGTG (p.Pro44CysfsTer?) c.103+632_103+648delinsTGCACAGTAGTG (n.103+632_103+648delinsTGCACAGTAGTG) | ClinVar |
| 12 | g.51913182dup | CA319771 | ACVRL1 | c.187dup (p.Ala63GlyfsTer?) c.145dup (p.Ala49GlyfsTer?) c.103+647dup (n.103+647dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51913182del | CA891843493 | ACVRL1 | c.187del (p.Ala63ProfsTer5) c.145del (p.Ala49ProfsTer5) c.103+647del (n.103+647del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913180G>A | CA270765 | ACVRL1 | c.185G>A (p.Gly62Glu) c.143G>A (p.Gly48Glu) c.103+645G>A (n.103+645G>A) | ClinVar dbSNP |
| 12 | g.51913180G>C | CA384897684 | ACVRL1 | c.185G>C (p.Gly62Ala) c.143G>C (p.Gly48Ala) c.103+645G>C (n.103+645G>C) | |
| 12 | g.51913180G= | CA2036266991 | ACVRL1 | c.185G= (p.Gly62=) c.143G= (p.Gly48=) c.103+645G= (n.103+645G=) | |
| 12 | g.51913180G>T | CA384897686 | ACVRL1 | c.185G>T (p.Gly62Val) c.143G>T (p.Gly48Val) c.103+645G>T (n.103+645G>T) | gnomAD v4 |
| 12 | g.51913180_51913184delinsAGCCT | CA254375 | ACVRL1 | c.185_189delinsAGCCT (p.Gly62_Ala63delinsGluPro) c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) c.103+645_103+649delinsAGCCT (n.103+645_103+649delinsAGCCT) | ClinVar dbSNP |
| 12 | g.51913180_51913184delinsGGGCC | CA2036266993 | ACVRL1 | c.185_189delinsGGGCC (p.Gly62=) c.143_147delinsGGGCC (p.Gly48=) c.103+645_103+649delinsGGGCC (n.103+645_103+649delinsGGGCC) | |
| 12 | g.51913181G>A | CA480063105 | ACVRL1 | c.186G>A (p.Gly62=) c.144G>A (p.Gly48=) c.103+646G>A (n.103+646G>A) | dbSNP gnomAD v2 |
| 12 | g.51913181G>C | CA480063106 | ACVRL1 | c.186G>C (p.Gly62=) c.144G>C (p.Gly48=) c.103+646G>C (n.103+646G>C) | |
| 12 | g.51913181G= | CA2036266998 | ACVRL1 | c.186G= (p.Gly62=) c.144G= (p.Gly48=) c.103+646G= (n.103+646G=) | |
| 12 | g.51913181G>T | CA480063107 | ACVRL1 | c.186G>T (p.Gly62=) c.144G>T (p.Gly48=) c.103+646G>T (n.103+646G>T) | gnomAD v4 |
| 12 | g.51913182G>A | CA6572824 | ACVRL1 | c.187G>A (p.Ala63Thr) c.145G>A (p.Ala49Thr) c.103+647G>A (n.103+647G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913182G>C | CA270762 | ACVRL1 | c.187G>C (p.Ala63Pro) c.145G>C (p.Ala49Pro) c.103+647G>C (n.103+647G>C) | ClinVar dbSNP |
| 12 | g.51913182G= | CA2036267000 | ACVRL1 | c.187G= (p.Ala63=) c.145G= (p.Ala49=) c.103+647G= (n.103+647G=) | |
| 12 | g.51913182G>T | CA384897690 | ACVRL1 | c.187G>T (p.Ala63Ser) c.145G>T (p.Ala49Ser) c.103+647G>T (n.103+647G>T) | gnomAD v4 |
| 12 | g.51913183C>A | CA384897693 | ACVRL1 | c.188C>A (p.Ala63Asp) c.146C>A (p.Ala49Asp) c.103+648C>A (n.103+648C>A) | gnomAD v4 |
| 12 | g.51913183C= | CA2036267003 | ACVRL1 | c.188C= (p.Ala63=) c.146C= (p.Ala49=) c.103+648C= (n.103+648C=) | |
| 12 | g.51913183C>G | CA384897695 | ACVRL1 | c.188C>G (p.Ala63Gly) c.146C>G (p.Ala49Gly) c.103+648C>G (n.103+648C>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51913183C>T | CA384897696 | ACVRL1 | c.188C>T (p.Ala63Val) c.146C>T (p.Ala49Val) c.103+648C>T (n.103+648C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.51913184del | CA2695216668 | ACVRL1 | c.189del (p.Trp64GlyfsTer4) c.147del (p.Trp50GlyfsTer4) c.103+649del (n.103+649del) | |
| 12 | g.51913184C>A | CA480063108 | ACVRL1 | c.189C>A (p.Ala63=) c.147C>A (p.Ala49=) c.103+649C>A (n.103+649C>A) | |
| 12 | g.51913184C>G | CA480063109 | ACVRL1 | c.189C>G (p.Ala63=) c.147C>G (p.Ala49=) c.103+649C>G (n.103+649C>G) | |
| 12 | g.51913184C>T | CA480063111 | ACVRL1 | c.189C>T (p.Ala63=) c.147C>T (p.Ala49=) c.103+649C>T (n.103+649C>T) | |
| 12 | g.51913185T>A | CA384897698 | ACVRL1 | c.190T>A (p.Trp64Arg) c.148T>A (p.Trp50Arg) c.103+650T>A (n.103+650T>A) | |
| 12 | g.51913185T>C | CA384897700 | ACVRL1 | c.190T>C (p.Trp64Arg) c.148T>C (p.Trp50Arg) c.103+650T>C (n.103+650T>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913185T>G | CA384897704 | ACVRL1 | c.190T>G (p.Trp64Gly) c.148T>G (p.Trp50Gly) c.103+650T>G (n.103+650T>G) | ClinVar dbSNP |
| 12 | g.51913185T= | CA2036267006 | ACVRL1 | c.190T= (p.Trp64=) c.148T= (p.Trp50=) c.103+650T= (n.103+650T=) | |
| 12 | g.51913186G>A | CA384897708 | ACVRL1 | c.191G>A (p.Trp64Ter) c.149G>A (p.Trp50Ter) c.103+651G>A (n.103+651G>A) | gnomAD v4 |
| 12 | g.51913186G>C | CA384897705 | ACVRL1 | c.191G>C (p.Trp64Ser) c.149G>C (p.Trp50Ser) c.103+651G>C (n.103+651G>C) | |
| 12 | g.51913186G= | CA2036267009 | ACVRL1 | c.191G= (p.Trp64=) c.149G= (p.Trp50=) c.103+651G= (n.103+651G=) | |
| 12 | g.51913186G>T | CA236361838 | ACVRL1 | c.191G>T (p.Trp64Leu) c.149G>T (p.Trp50Leu) c.103+651G>T (n.103+651G>T) | dbSNP gnomAD v4 |
| 12 | g.51913187G>A | CA384897709 | ACVRL1 | c.192G>A (p.Trp64Ter) c.150G>A (p.Trp50Ter) c.103+652G>A (n.103+652G>A) | gnomAD v4 |
| 12 | g.51913187G>C | CA384897711 | ACVRL1 | c.192G>C (p.Trp64Cys) c.150G>C (p.Trp50Cys) c.103+652G>C (n.103+652G>C) | ClinVar dbSNP |
| 12 | g.51913187G= | CA2036267012 | ACVRL1 | c.192G= (p.Trp64=) c.150G= (p.Trp50=) c.103+652G= (n.103+652G=) | |
| 12 | g.51913187G>T | CA254373 | ACVRL1 | c.192G>T (p.Trp64Cys) c.150G>T (p.Trp50Cys) c.103+652G>T (n.103+652G>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913188T>A | CA384897713 | ACVRL1 | c.193T>A (p.Cys65Ser) c.151T>A (p.Cys51Ser) c.103+653T>A (n.103+653T>A) | ClinVar |
| 12 | g.51913188T>C | CA384897715 | ACVRL1 | c.193T>C (p.Cys65Arg) c.151T>C (p.Cys51Arg) c.103+653T>C (n.103+653T>C) | |
| 12 | g.51913188T>G | CA384897717 | ACVRL1 | c.193T>G (p.Cys65Gly) c.151T>G (p.Cys51Gly) c.103+653T>G (n.103+653T>G) | ClinVar dbSNP |
| 12 | g.51913188T= | CA2588340210 | ACVRL1 | c.193T= (p.Cys65=) c.151T= (p.Cys51=) c.103+653T= (n.103+653T=) | |
| 12 | g.51913189G>A | CA324720 | ACVRL1 | c.194G>A (p.Cys65Tyr) c.152G>A (p.Cys51Tyr) c.103+654G>A (n.103+654G>A) | ClinVar dbSNP |
| 12 | g.51913189G>C | CA384897720 | ACVRL1 | c.194G>C (p.Cys65Ser) c.152G>C (p.Cys51Ser) c.103+654G>C (n.103+654G>C) | |
| 12 | g.51913189G= | CA2036267015 | ACVRL1 | c.194G= (p.Cys65=) c.152G= (p.Cys51=) c.103+654G= (n.103+654G=) | |
| 12 | g.51913189G>T | CA384897722 | ACVRL1 | c.194G>T (p.Cys65Phe) c.152G>T (p.Cys51Phe) c.103+654G>T (n.103+654G>T) | gnomAD v4 |
| 12 | g.51913190C>A | CA384897723 | ACVRL1 | c.195C>A (p.Cys65Ter) c.153C>A (p.Cys51Ter) c.103+655C>A (n.103+655C>A) | |
| 12 | g.51913190C>G | CA384897725 | ACVRL1 | c.195C>G (p.Cys65Trp) c.153C>G (p.Cys51Trp) c.103+655C>G (n.103+655C>G) | |
| 12 | g.51913190C>T | CA480063114 | ACVRL1 | c.195C>T (p.Cys65=) c.153C>T (p.Cys51=) c.103+655C>T (n.103+655C>T) |