| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915393_51915403del | CA2695216747 | ACVRL1 | c.671_681del (p.His224LeufsTer?) c.941_951del (p.His314LeufsTer?) c.419_429del (p.His140LeufsTer?) c.983_993del (p.His328LeufsTer?) c.152_162del (p.His51LeufsTer?) | |
| 12 | g.51915402T>A | CA384901235 | ACVRL1 | c.680T>A (p.Ile227Asn) c.950T>A (p.Ile317Asn) c.428T>A (p.Ile143Asn) c.992T>A (p.Ile331Asn) c.161T>A (p.Ile54Asn) | |
| 12 | g.51915402T>C | CA384901237 | ACVRL1 | c.680T>C (p.Ile227Thr) c.950T>C (p.Ile317Thr) c.428T>C (p.Ile143Thr) c.992T>C (p.Ile331Thr) c.161T>C (p.Ile54Thr) | ClinVar dbSNP |
| 12 | g.51915402T>G | CA384901239 | ACVRL1 | c.680T>G (p.Ile227Ser) c.950T>G (p.Ile317Ser) c.428T>G (p.Ile143Ser) c.992T>G (p.Ile331Ser) c.161T>G (p.Ile54Ser) | |
| 12 | g.51915402T= | CA2036269508 | ACVRL1 | c.680T= (p.Ile227=) c.950T= (p.Ile317=) c.428T= (p.Ile143=) c.992T= (p.Ile331=) c.161T= (p.Ile54=) | |
| 12 | g.51915403C>A | CA480063252 | ACVRL1 | c.681C>A (p.Ile227=) c.951C>A (p.Ile317=) c.429C>A (p.Ile143=) c.993C>A (p.Ile331=) c.162C>A (p.Ile54=) | |
| 12 | g.51915403C>G | CA384901241 | ACVRL1 | c.681C>G (p.Ile227Met) c.951C>G (p.Ile317Met) c.429C>G (p.Ile143Met) c.993C>G (p.Ile331Met) c.162C>G (p.Ile54Met) | |
| 12 | g.51915403C>T | CA480063253 | ACVRL1 | c.681C>T (p.Ile227=) c.951C>T (p.Ile317=) c.429C>T (p.Ile143=) c.993C>T (p.Ile331=) c.162C>T (p.Ile54=) | |
| 12 | g.51915403_51915404delinsCT | CA2036269509 | ACVRL1 | c.681_682delinsCT (p.Ile227=) c.951_952delinsCT (p.Ile317=) c.429_430delinsCT (p.Ile143=) c.993_994delinsCT (p.Ile331=) c.162_163delinsCT (p.Ile54=) | |
| 12 | g.51915404T>A | CA384901246 | ACVRL1 | c.682T>A (p.Phe228Ile) c.952T>A (p.Phe318Ile) c.430T>A (p.Phe144Ile) c.994T>A (p.Phe332Ile) c.163T>A (p.Phe55Ile) | |
| 12 | g.51915404T>C | CA384901244 | ACVRL1 | c.682T>C (p.Phe228Leu) c.952T>C (p.Phe318Leu) c.430T>C (p.Phe144Leu) c.994T>C (p.Phe332Leu) c.163T>C (p.Phe55Leu) | |
| 12 | g.51915404T>G | CA384901248 | ACVRL1 | c.682T>G (p.Phe228Val) c.952T>G (p.Phe318Val) c.430T>G (p.Phe144Val) c.994T>G (p.Phe332Val) c.163T>G (p.Phe55Val) | |
| 12 | g.51915405del | CA605238840 | ACVRL1 | c.683del (p.Phe228SerfsTer?) c.953del (p.Phe318SerfsTer?) c.431del (p.Phe144SerfsTer?) c.995del (p.Phe332SerfsTer?) c.164del (p.Phe55SerfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915405T>A | CA384901250 | ACVRL1 | c.683T>A (p.Phe228Tyr) c.953T>A (p.Phe318Tyr) c.431T>A (p.Phe144Tyr) c.995T>A (p.Phe332Tyr) c.164T>A (p.Phe55Tyr) | |
| 12 | g.51915405T>C | CA384901261 | ACVRL1 | c.683T>C (p.Phe228Ser) c.953T>C (p.Phe318Ser) c.431T>C (p.Phe144Ser) c.995T>C (p.Phe332Ser) c.164T>C (p.Phe55Ser) | |
| 12 | g.51915405T>G | CA384901259 | ACVRL1 | c.683T>G (p.Phe228Cys) c.953T>G (p.Phe318Cys) c.431T>G (p.Phe144Cys) c.995T>G (p.Phe332Cys) c.164T>G (p.Phe55Cys) | |
| 12 | g.51915406C>A | CA384901268 | ACVRL1 | c.684C>A (p.Phe228Leu) c.954C>A (p.Phe318Leu) c.432C>A (p.Phe144Leu) c.996C>A (p.Phe332Leu) c.165C>A (p.Phe55Leu) | |
| 12 | g.51915406C= | CA2036269510 | ACVRL1 | c.684C= (p.Phe228=) c.954C= (p.Phe318=) c.432C= (p.Phe144=) c.996C= (p.Phe332=) c.165C= (p.Phe55=) | |
| 12 | g.51915406C>G | CA384901272 | ACVRL1 | c.684C>G (p.Phe228Leu) c.954C>G (p.Phe318Leu) c.432C>G (p.Phe144Leu) c.996C>G (p.Phe332Leu) c.165C>G (p.Phe55Leu) | |
| 12 | g.51915406C>T | CA6573024 | ACVRL1 | c.684C>T (p.Phe228=) c.954C>T (p.Phe318=) c.432C>T (p.Phe144=) c.996C>T (p.Phe332=) c.165C>T (p.Phe55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915407G>A | CA384901282 | ACVRL1 | c.685G>A (p.Gly229Ser) c.955G>A (p.Gly319Ser) c.433G>A (p.Gly145Ser) c.997G>A (p.Gly333Ser) c.166G>A (p.Gly56Ser) | dbSNP gnomAD v4 |
| 12 | g.51915407G>C | CA384901287 | ACVRL1 | c.685G>C (p.Gly229Arg) c.955G>C (p.Gly319Arg) c.433G>C (p.Gly145Arg) c.997G>C (p.Gly333Arg) c.166G>C (p.Gly56Arg) | ClinVar dbSNP |
| 12 | g.51915407G= | CA2036269511 | ACVRL1 | c.685G= (p.Gly229=) c.955G= (p.Gly319=) c.433G= (p.Gly145=) c.997G= (p.Gly333=) c.166G= (p.Gly56=) | |
| 12 | g.51915407G>T | CA384901288 | ACVRL1 | c.685G>T (p.Gly229Cys) c.955G>T (p.Gly319Cys) c.433G>T (p.Gly145Cys) c.997G>T (p.Gly333Cys) c.166G>T (p.Gly56Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915408G>A | CA384901289 | ACVRL1 | c.686G>A (p.Gly229Asp) c.956G>A (p.Gly319Asp) c.434G>A (p.Gly145Asp) c.998G>A (p.Gly333Asp) c.167G>A (p.Gly56Asp) | ClinVar |
| 12 | g.51915408G>C | CA384901292 | ACVRL1 | c.686G>C (p.Gly229Ala) c.956G>C (p.Gly319Ala) c.434G>C (p.Gly145Ala) c.998G>C (p.Gly333Ala) c.167G>C (p.Gly56Ala) | gnomAD v4 |
| 12 | g.51915408G>T | CA384901297 | ACVRL1 | c.686G>T (p.Gly229Val) c.956G>T (p.Gly319Val) c.434G>T (p.Gly145Val) c.998G>T (p.Gly333Val) c.167G>T (p.Gly56Val) | |
| 12 | g.51915409T>A | CA480063254 | ACVRL1 | c.687T>A (p.Gly229=) c.957T>A (p.Gly319=) c.435T>A (p.Gly145=) c.999T>A (p.Gly333=) c.168T>A (p.Gly56=) | |
| 12 | g.51915409T>C | CA6573025 | ACVRL1 | c.687T>C (p.Gly229=) c.957T>C (p.Gly319=) c.435T>C (p.Gly145=) c.999T>C (p.Gly333=) c.168T>C (p.Gly56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915409T>G | CA480063255 | ACVRL1 | c.687T>G (p.Gly229=) c.957T>G (p.Gly319=) c.435T>G (p.Gly145=) c.999T>G (p.Gly333=) c.168T>G (p.Gly56=) | |
| 12 | g.51915409T= | CA2036269513 | ACVRL1 | c.687T= (p.Gly229=) c.957T= (p.Gly319=) c.435T= (p.Gly145=) c.999T= (p.Gly333=) c.168T= (p.Gly56=) | |
| 12 | g.51915409_51915414delinsTACACA | CA2036269512 | ACVRL1 | c.687_692delinsTACACA (p.Gly229=) c.957_962delinsTACACA (p.Gly319=) c.435_440delinsTACACA (p.Gly145=) c.999_1004delinsTACACA (p.Gly333=) c.168_173delinsTACACA (p.Gly56=) | |
| 12 | g.51915410A>C | CA384901298 | ACVRL1 | c.688A>C (p.Thr230Pro) c.958A>C (p.Thr320Pro) c.436A>C (p.Thr146Pro) c.1000A>C (p.Thr334Pro) c.169A>C (p.Thr57Pro) | |
| 12 | g.51915410A>G | CA384901306 | ACVRL1 | c.688A>G (p.Thr230Ala) c.958A>G (p.Thr320Ala) c.436A>G (p.Thr146Ala) c.1000A>G (p.Thr334Ala) c.169A>G (p.Thr57Ala) | |
| 12 | g.51915410A>T | CA384901307 | ACVRL1 | c.688A>T (p.Thr230Ser) c.958A>T (p.Thr320Ser) c.436A>T (p.Thr146Ser) c.1000A>T (p.Thr334Ser) c.169A>T (p.Thr57Ser) | |
| 12 | g.51915410_51915414del | CA605238841 | ACVRL1 | c.688_692del (p.Thr230GlyfsTer?) c.958_962del (p.Thr320GlyfsTer?) c.436_440del (p.Thr146GlyfsTer?) c.1000_1004del (p.Thr334GlyfsTer?) c.169_173del (p.Thr57GlyfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915411C>A | CA384901314 | ACVRL1 | c.689C>A (p.Thr230Lys) c.959C>A (p.Thr320Lys) c.437C>A (p.Thr146Lys) c.1001C>A (p.Thr334Lys) c.170C>A (p.Thr57Lys) | |
| 12 | g.51915411C>G | CA384901311 | ACVRL1 | c.689C>G (p.Thr230Arg) c.959C>G (p.Thr320Arg) c.437C>G (p.Thr146Arg) c.1001C>G (p.Thr334Arg) c.170C>G (p.Thr57Arg) | |
| 12 | g.51915411C>T | CA384901308 | ACVRL1 | c.689C>T (p.Thr230Ile) c.959C>T (p.Thr320Ile) c.437C>T (p.Thr146Ile) c.1001C>T (p.Thr334Ile) c.170C>T (p.Thr57Ile) | |
| 12 | g.51915412A>C | CA480063256 | ACVRL1 | c.690A>C (p.Thr230=) c.960A>C (p.Thr320=) c.438A>C (p.Thr146=) c.1002A>C (p.Thr334=) c.171A>C (p.Thr57=) | |
| 12 | g.51915412A>G | CA480063257 | ACVRL1 | c.690A>G (p.Thr230=) c.960A>G (p.Thr320=) c.438A>G (p.Thr146=) c.1002A>G (p.Thr334=) c.171A>G (p.Thr57=) | |
| 12 | g.51915412A>T | CA480063258 | ACVRL1 | c.690A>T (p.Thr230=) c.960A>T (p.Thr320=) c.438A>T (p.Thr146=) c.1002A>T (p.Thr334=) c.171A>T (p.Thr57=) | |
| 12 | g.51915413C>A | CA384901319 | ACVRL1 | c.691C>A (p.Gln231Lys) c.961C>A (p.Gln321Lys) c.439C>A (p.Gln147Lys) c.1003C>A (p.Gln335Lys) c.172C>A (p.Gln58Lys) | |
| 12 | g.51915413C>G | CA384901322 | ACVRL1 | c.691C>G (p.Gln231Glu) c.961C>G (p.Gln321Glu) c.439C>G (p.Gln147Glu) c.1003C>G (p.Gln335Glu) c.172C>G (p.Gln58Glu) | |
| 12 | g.51915413C>T | CA384901324 | ACVRL1 | c.691C>T (p.Gln231Ter) c.961C>T (p.Gln321Ter) c.439C>T (p.Gln147Ter) c.1003C>T (p.Gln335Ter) c.172C>T (p.Gln58Ter) | ClinVar dbSNP |
| 12 | g.51915414A>C | CA384901325 | ACVRL1 | c.692A>C (p.Gln231Pro) c.962A>C (p.Gln321Pro) c.440A>C (p.Gln147Pro) c.1004A>C (p.Gln335Pro) c.173A>C (p.Gln58Pro) | |
| 12 | g.51915414A>G | CA384901326 | ACVRL1 | c.692A>G (p.Gln231Arg) c.962A>G (p.Gln321Arg) c.440A>G (p.Gln147Arg) c.1004A>G (p.Gln335Arg) c.173A>G (p.Gln58Arg) | |
| 12 | g.51915414A>T | CA384901327 | ACVRL1 | c.692A>T (p.Gln231Leu) c.962A>T (p.Gln321Leu) c.440A>T (p.Gln147Leu) c.1004A>T (p.Gln335Leu) c.173A>T (p.Gln58Leu) | |
| 12 | g.51915414_51915415del | CA2580086484 | ACVRL1 | c.692_693del (p.Gln231ArgfsTer?) c.962_963del (p.Gln321ArgfsTer?) c.440_441del (p.Gln147ArgfsTer?) c.1004_1005del (p.Gln335ArgfsTer?) c.173_174del (p.Gln58ArgfsTer?) | ClinVar |
| 12 | g.51915415G>A | CA480063259 | ACVRL1 | c.693G>A (p.Gln231=) c.963G>A (p.Gln321=) c.441G>A (p.Gln147=) c.1005G>A (p.Gln335=) c.174G>A (p.Gln58=) | gnomAD v4 COSMIC COSMIC |