| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431629G>A | CA345144942 | ACTA1 | c.991-65C>T (n.991-65C>T) c.869C>T (p.Pro290Leu) c.635C>T (p.Pro212Leu) c.1004C>T (p.Pro335Leu) | ClinVar dbSNP |
| 1 | g.229431629G>C | CA345144937 | ACTA1 | c.991-65C>G (n.991-65C>G) c.869C>G (p.Pro290Arg) c.635C>G (p.Pro212Arg) c.1004C>G (p.Pro335Arg) | ClinVar dbSNP |
| 1 | g.229431629G= | CA1226125409 | ACTA1 | c.991-65C= (n.991-65C=) c.869C= (p.Pro290=) c.635C= (p.Pro212=) c.1004C= (p.Pro335=) | |
| 1 | g.229431629G>T | CA16042312 | ACTA1 | c.991-65C>A (n.991-65C>A) c.869C>A (p.Pro290Gln) c.635C>A (p.Pro212Gln) c.1004C>A (p.Pro335Gln) | ClinVar dbSNP |
| 1 | g.229431630G>A | CA345144947 | ACTA1 | c.991-66C>T (n.991-66C>T) c.868C>T (p.Pro290Ser) c.634C>T (p.Pro212Ser) c.1003C>T (p.Pro335Ser) | |
| 1 | g.229431630G>C | CA345144949 | ACTA1 | c.991-66C>G (n.991-66C>G) c.868C>G (p.Pro290Ala) c.634C>G (p.Pro212Ala) c.1003C>G (p.Pro335Ala) | ClinVar dbSNP |
| 1 | g.229431630G= | CA1226125410 | ACTA1 | c.991-66C= (n.991-66C=) c.868C= (p.Pro290=) c.634C= (p.Pro212=) c.1003C= (p.Pro335=) | |
| 1 | g.229431630G>T | CA345144958 | ACTA1 | c.991-66C>A (n.991-66C>A) c.868C>A (p.Pro290Thr) c.634C>A (p.Pro212Thr) c.1003C>A (p.Pro335Thr) | |
| 1 | g.229431631C>A | CA1442720 | ACTA1 | c.991-67G>T (n.991-67G>T) c.867G>T (p.Pro289=) c.633G>T (p.Pro211=) c.1002G>T (p.Pro334=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229431631C= | CA1226125411 | ACTA1 | c.991-67G= (n.991-67G=) c.867G= (p.Pro289=) c.633G= (p.Pro211=) c.1002G= (p.Pro334=) | |
| 1 | g.229431631C>G | CA423754862 | ACTA1 | c.991-67G>C (n.991-67G>C) c.867G>C (p.Pro289=) c.633G>C (p.Pro211=) c.1002G>C (p.Pro334=) | |
| 1 | g.229431631C>T | CA423754864 | ACTA1 | c.991-67G>A (n.991-67G>A) c.867G>A (p.Pro289=) c.633G>A (p.Pro211=) c.1002G>A (p.Pro334=) | dbSNP |
| 1 | g.229431632G>A | CA345144967 | ACTA1 | c.991-68C>T (n.991-68C>T) c.866C>T (p.Pro289Leu) c.632C>T (p.Pro211Leu) c.1001C>T (p.Pro334Leu) | ClinVar dbSNP COSMIC |
| 1 | g.229431632G>C | CA345144971 | ACTA1 | c.991-68C>G (n.991-68C>G) c.866C>G (p.Pro289Arg) c.632C>G (p.Pro211Arg) c.1001C>G (p.Pro334Arg) | ClinVar dbSNP |
| 1 | g.229431632G= | CA1226125412 | ACTA1 | c.991-68C= (n.991-68C=) c.866C= (p.Pro289=) c.632C= (p.Pro211=) c.1001C= (p.Pro334=) | |
| 1 | g.229431632G>T | CA345144973 | ACTA1 | c.991-68C>A (n.991-68C>A) c.866C>A (p.Pro289Gln) c.632C>A (p.Pro211Gln) c.1001C>A (p.Pro334Gln) | |
| 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) |