| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431633G>A | CA341499 | ACTA1 | c.991-69C>T (n.991-69C>T) c.865C>T (p.Pro289Ser) c.631C>T (p.Pro211Ser) c.1000C>T (p.Pro334Ser) | ClinVar dbSNP |
| 1 | g.229431633G>C | CA345144978 | ACTA1 | c.991-69C>G (n.991-69C>G) c.865C>G (p.Pro289Ala) c.631C>G (p.Pro211Ala) c.1000C>G (p.Pro334Ala) | |
| 1 | g.229431633G= | CA1141581372 | ACTA1 | c.991-69C= (n.991-69C=) c.865C= (p.Pro289=) c.631C= (p.Pro211=) c.1000C= (p.Pro334=) | |
| 1 | g.229431633G>T | CA345144982 | ACTA1 | c.991-69C>A (n.991-69C>A) c.865C>A (p.Pro289Thr) c.631C>A (p.Pro211Thr) c.1000C>A (p.Pro334Thr) | |
| 1 | g.229431634G>A | CA423754865 | ACTA1 | c.991-70C>T (n.991-70C>T) c.864C>T (p.Ala288=) c.630C>T (p.Ala210=) c.999C>T (p.Ala333=) | dbSNP COSMIC |
| 1 | g.229431634G>C | CA423754867 | ACTA1 | c.991-70C>G (n.991-70C>G) c.864C>G (p.Ala288=) c.630C>G (p.Ala210=) c.999C>G (p.Ala333=) | |
| 1 | g.229431634G= | CA1226125413 | ACTA1 | c.991-70C= (n.991-70C=) c.864C= (p.Ala288=) c.630C= (p.Ala210=) c.999C= (p.Ala333=) | |
| 1 | g.229431634G>T | CA423754866 | ACTA1 | c.991-70C>A (n.991-70C>A) c.864C>A (p.Ala288=) c.630C>A (p.Ala210=) c.999C>A (p.Ala333=) | |
| 1 | g.229431635G>A | CA345144990 | ACTA1 | c.991-71C>T (n.991-71C>T) c.863C>T (p.Ala288Val) c.629C>T (p.Ala210Val) c.998C>T (p.Ala333Val) | |
| 1 | g.229431635G>C | CA345144984 | ACTA1 | c.991-71C>G (n.991-71C>G) c.863C>G (p.Ala288Gly) c.629C>G (p.Ala210Gly) c.998C>G (p.Ala333Gly) | |
| 1 | g.229431635G>T | CA345144988 | ACTA1 | c.991-71C>A (n.991-71C>A) c.863C>A (p.Ala288Asp) c.629C>A (p.Ala210Asp) c.998C>A (p.Ala333Asp) | COSMIC |
| 1 | g.229431636C>A | CA345144994 | ACTA1 | c.991-72G>T (n.991-72G>T) c.862G>T (p.Ala288Ser) c.628G>T (p.Ala210Ser) c.997G>T (p.Ala333Ser) | |
| 1 | g.229431636C>G | CA345144997 | ACTA1 | c.991-72G>C (n.991-72G>C) c.862G>C (p.Ala288Pro) c.628G>C (p.Ala210Pro) c.997G>C (p.Ala333Pro) | |
| 1 | g.229431636C>T | CA345145000 | ACTA1 | c.991-72G>A (n.991-72G>A) c.862G>A (p.Ala288Thr) c.628G>A (p.Ala210Thr) c.997G>A (p.Ala333Thr) | |
| 1 | g.229431637G>A | CA423754872 | ACTA1 | c.991-73C>T (n.991-73C>T) c.861C>T (p.Ile287=) c.627C>T (p.Ile209=) c.996C>T (p.Ile332=) | |
| 1 | g.229431637G>C | CA345145004 | ACTA1 | c.991-73C>G (n.991-73C>G) c.861C>G (p.Ile287Met) c.627C>G (p.Ile209Met) c.996C>G (p.Ile332Met) | |
| 1 | g.229431637G= | CA1140915877 | ACTA1 | c.991-73C= (n.991-73C=) c.861C= (p.Ile287=) c.627C= (p.Ile209=) c.996C= (p.Ile332=) | |
| 1 | g.229431637G>T | CA147051 | ACTA1 | c.991-73C>A (n.991-73C>A) c.861C>A (p.Ile287=) c.627C>A (p.Ile209=) c.996C>A (p.Ile332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431638A>C | CA345145010 | ACTA1 | c.991-74T>G (n.991-74T>G) c.860T>G (p.Ile287Ser) c.626T>G (p.Ile209Ser) c.995T>G (p.Ile332Ser) | |
| 1 | g.229431638A>G | CA345145012 | ACTA1 | c.991-74T>C (n.991-74T>C) c.860T>C (p.Ile287Thr) c.626T>C (p.Ile209Thr) c.995T>C (p.Ile332Thr) | |
| 1 | g.229431638A>T | CA345145014 | ACTA1 | c.991-74T>A (n.991-74T>A) c.860T>A (p.Ile287Asn) c.626T>A (p.Ile209Asn) c.995T>A (p.Ile332Asn) | |
| 1 | g.229431639T>A | CA345145019 | ACTA1 | c.991-75A>T (n.991-75A>T) c.859A>T (p.Ile287Phe) c.625A>T (p.Ile209Phe) c.994A>T (p.Ile332Phe) | |
| 1 | g.229431639T>C | CA345145022 | ACTA1 | c.991-75A>G (n.991-75A>G) c.859A>G (p.Ile287Val) c.625A>G (p.Ile209Val) c.994A>G (p.Ile332Val) | dbSNP gnomAD v4 |
| 1 | g.229431639T>G | CA345145026 | ACTA1 | c.991-75A>C (n.991-75A>C) c.859A>C (p.Ile287Leu) c.625A>C (p.Ile209Leu) c.994A>C (p.Ile332Leu) | |
| 1 | g.229431639T= | CA1226125414 | ACTA1 | c.991-75A= (n.991-75A=) c.859A= (p.Ile287=) c.625A= (p.Ile209=) c.994A= (p.Ile332=) | |
| 1 | g.229431640G>A | CA423754875 | ACTA1 | c.991-76C>T (n.991-76C>T) c.858C>T (p.Ile286=) c.624C>T (p.Ile208=) c.993C>T (p.Ile331=) | dbSNP |
| 1 | g.229431640G>C | CA345145030 | ACTA1 | c.991-76C>G (n.991-76C>G) c.858C>G (p.Ile286Met) c.624C>G (p.Ile208Met) c.993C>G (p.Ile331Met) | |
| 1 | g.229431640G= | CA1226125415 | ACTA1 | c.991-76C= (n.991-76C=) c.858C= (p.Ile286=) c.624C= (p.Ile208=) c.993C= (p.Ile331=) | |
| 1 | g.229431640G>T | CA423754874 | ACTA1 | c.991-76C>A (n.991-76C>A) c.858C>A (p.Ile286=) c.624C>A (p.Ile208=) c.993C>A (p.Ile331=) | |
| 1 | g.229431641A>C | CA345145033 | ACTA1 | c.991-77T>G (n.991-77T>G) c.857T>G (p.Ile286Ser) c.623T>G (p.Ile208Ser) c.992T>G (p.Ile331Ser) | |
| 1 | g.229431641A>G | CA345145032 | ACTA1 | c.991-77T>C (n.991-77T>C) c.857T>C (p.Ile286Thr) c.623T>C (p.Ile208Thr) c.992T>C (p.Ile331Thr) | |
| 1 | g.229431641A>T | CA345145034 | ACTA1 | c.991-77T>A (n.991-77T>A) c.857T>A (p.Ile286Asn) c.623T>A (p.Ile208Asn) c.992T>A (p.Ile331Asn) | gnomAD v4 |
| 1 | g.229431642T>A | CA345145037 | ACTA1 | c.991-78A>T (n.991-78A>T) c.856A>T (p.Ile286Phe) c.622A>T (p.Ile208Phe) c.991A>T (p.Ile331Phe) | |
| 1 | g.229431642T>C | CA345145038 | ACTA1 | c.991-78A>G (n.991-78A>G) c.856A>G (p.Ile286Val) c.622A>G (p.Ile208Val) c.991A>G (p.Ile331Val) | |
| 1 | g.229431642T>G | CA345145040 | ACTA1 | c.991-78A>C (n.991-78A>C) c.856A>C (p.Ile286Leu) c.622A>C (p.Ile208Leu) c.991A>C (p.Ile331Leu) | |
| 1 | g.229431642_229431720delinsTCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCAC | CA1226125416 | ACTA1 | c.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA (n.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA) c.855+1_856delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA c.621+1_622delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA c.990+1_991delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA | |
| 1 | g.229431643C>A | CA345145044 | ACTA1 | c.991-79G>T (n.991-79G>T) c.856-1G>T (n.856-1G>T) c.622-1G>T (n.622-1G>T) c.991-1G>T (n.991-1G>T) | COSMIC |
| 1 | g.229431643C>G | CA345145047 | ACTA1 | c.991-79G>C (n.991-79G>C) c.856-1G>C (n.856-1G>C) c.622-1G>C (n.622-1G>C) c.991-1G>C (n.991-1G>C) | |
| 1 | g.229431643C>T | CA345145051 | ACTA1 | c.991-79G>A (n.991-79G>A) c.856-1G>A (n.856-1G>A) c.622-1G>A (n.622-1G>A) c.991-1G>A (n.991-1G>A) | |
| 1 | g.229431645_229431722del | CA529915258 | ACTA1 | c.990+1_991-79del c.855+1_856-1del c.621+1_622-1del c.990+1_991-1del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431644T>A | CA345145057 | ACTA1 | c.990+77A>T (n.990+77A>T) c.856-2A>T (n.856-2A>T) c.622-2A>T (n.622-2A>T) c.991-2A>T (n.991-2A>T) | |
| 1 | g.229431644T>C | CA345145059 | ACTA1 | c.990+77A>G (n.990+77A>G) c.856-2A>G (n.856-2A>G) c.622-2A>G (n.622-2A>G) c.991-2A>G (n.991-2A>G) | |
| 1 | g.229431644T>G | CA345145062 | ACTA1 | c.990+77A>C (n.990+77A>C) c.856-2A>C (n.856-2A>C) c.622-2A>C (n.622-2A>C) c.991-2A>C (n.991-2A>C) | |
| 1 | g.229431645G= | CA1226125417 | ACTA1 | c.990+76C= (n.990+76C=) c.856-3C= (n.856-3C=) c.622-3C= (n.622-3C=) c.991-3C= (n.991-3C=) | |
| 1 | g.229431645G>T | CA38814837 | ACTA1 | c.990+76C>A (n.990+76C>A) c.856-3C>A (n.856-3C>A) c.622-3C>A (n.622-3C>A) c.991-3C>A (n.991-3C>A) | dbSNP |
| 1 | g.229431646C= | CA1226125418 | ACTA1 | c.990+75G= (n.990+75G=) c.856-4G= (n.856-4G=) c.622-4G= (n.622-4G=) c.991-4G= (n.991-4G=) | |
| 1 | g.229431646C>G | CA38814845 | ACTA1 | c.990+75G>C (n.990+75G>C) c.856-4G>C (n.856-4G>C) c.622-4G>C (n.622-4G>C) c.991-4G>C (n.991-4G>C) | dbSNP |
| 1 | g.229431646C>T | CA2542912832 | ACTA1 | c.990+75G>A (n.990+75G>A) c.856-4G>A (n.856-4G>A) c.622-4G>A (n.622-4G>A) c.991-4G>A (n.991-4G>A) | |
| 1 | g.229431646_229431647insCAAAGCACGAGCTGTTAGCATGAGAGCGGGGCCCCCAA | CA2551839531 | ACTA1 | c.990+74_990+75insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG (n.990+74_990+75insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG) c.856-5_856-4insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG (n.856-5_856-4insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG) c.622-5_622-4insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG (n.622-5_622-4insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG) c.991-5_991-4insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG (n.991-5_991-4insTTGGGGGCCCCGCTCTCATGCTAACAGCTCGTGCTTTG) | |
| 1 | g.229431647A= | CA1226125419 | ACTA1 | c.990+74T= (n.990+74T=) c.856-5T= (n.856-5T=) c.622-5T= (n.622-5T=) c.991-5T= (n.991-5T=) |