| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431830T>A | CA341495 | ACTA1 | c.881A>T (p.Asp294Val) c.746A>T (p.Asp249Val) c.512A>T (p.Asp171Val) | ClinVar dbSNP |
| 1 | g.229431830T>C | CA345145880 | ACTA1 | c.881A>G (p.Asp294Gly) c.746A>G (p.Asp249Gly) c.512A>G (p.Asp171Gly) | |
| 1 | g.229431830T>G | CA345145883 | ACTA1 | c.881A>C (p.Asp294Ala) c.746A>C (p.Asp249Ala) c.512A>C (p.Asp171Ala) | |
| 1 | g.229431830T= | CA1141581373 | ACTA1 | c.881A= (p.Asp294=) c.746A= (p.Asp249=) c.512A= (p.Asp171=) | |
| 1 | g.229431831C>A | CA345145886 | ACTA1 | c.880G>T (p.Asp294Tyr) c.745G>T (p.Asp249Tyr) c.511G>T (p.Asp171Tyr) | ClinVar |
| 1 | g.229431831C>G | CA345145889 | ACTA1 | c.880G>C (p.Asp294His) c.745G>C (p.Asp249His) c.511G>C (p.Asp171His) | |
| 1 | g.229431831C>T | CA345145892 | ACTA1 | c.880G>A (p.Asp294Asn) c.745G>A (p.Asp249Asn) c.511G>A (p.Asp171Asn) | COSMIC |
| 1 | g.229431832C>A | CA345145895 | ACTA1 | c.879G>T (p.Lys293Asn) c.744G>T (p.Lys248Asn) c.510G>T (p.Lys170Asn) | |
| 1 | g.229431832C>G | CA345145896 | ACTA1 | c.879G>C (p.Lys293Asn) c.744G>C (p.Lys248Asn) c.510G>C (p.Lys170Asn) | |
| 1 | g.229431832C>T | CA423754873 | ACTA1 | c.879G>A (p.Lys293=) c.744G>A (p.Lys248=) c.510G>A (p.Lys170=) | |
| 1 | g.229431833T>A | CA345145899 | ACTA1 | c.878A>T (p.Lys293Met) c.743A>T (p.Lys248Met) c.509A>T (p.Lys170Met) | |
| 1 | g.229431833T>C | CA345145901 | ACTA1 | c.878A>G (p.Lys293Arg) c.743A>G (p.Lys248Arg) c.509A>G (p.Lys170Arg) | |
| 1 | g.229431833T>G | CA345145903 | ACTA1 | c.878A>C (p.Lys293Thr) c.743A>C (p.Lys248Thr) c.509A>C (p.Lys170Thr) | |
| 1 | g.229431834T>A | CA345145906 | ACTA1 | c.877A>T (p.Lys293Ter) c.742A>T (p.Lys248Ter) c.508A>T (p.Lys170Ter) | |
| 1 | g.229431834T>C | CA345145908 | ACTA1 | c.877A>G (p.Lys293Glu) c.742A>G (p.Lys248Glu) c.508A>G (p.Lys170Glu) | |
| 1 | g.229431834T>G | CA345145910 | ACTA1 | c.877A>C (p.Lys293Gln) c.742A>C (p.Lys248Gln) c.508A>C (p.Lys170Gln) | |
| 1 | g.229431835C>A | CA345145916 | ACTA1 | c.876G>T (p.Arg292Ser) c.741G>T (p.Arg247Ser) c.507G>T (p.Arg169Ser) | dbSNP |
| 1 | g.229431835C= | CA1226125504 | ACTA1 | c.876G= (p.Arg292=) c.741G= (p.Arg247=) c.507G= (p.Arg169=) | |
| 1 | g.229431835C>G | CA345145914 | ACTA1 | c.876G>C (p.Arg292Ser) c.741G>C (p.Arg247Ser) c.507G>C (p.Arg169Ser) | |
| 1 | g.229431835C>T | CA423754876 | ACTA1 | c.876G>A (p.Arg292=) c.741G>A (p.Arg247=) c.507G>A (p.Arg169=) | |
| 1 | g.229431836C>A | CA345145919 | ACTA1 | c.875G>T (p.Arg292Met) c.740G>T (p.Arg247Met) c.506G>T (p.Arg169Met) | |
| 1 | g.229431836C>G | CA345145921 | ACTA1 | c.875G>C (p.Arg292Thr) c.740G>C (p.Arg247Thr) c.506G>C (p.Arg169Thr) | |
| 1 | g.229431836C>T | CA345145923 | ACTA1 | c.875G>A (p.Arg292Lys) c.740G>A (p.Arg247Lys) c.506G>A (p.Arg169Lys) | ClinVar |
| 1 | g.229431837T>A | CA345145926 | ACTA1 | c.874A>T (p.Arg292Trp) c.739A>T (p.Arg247Trp) c.505A>T (p.Arg169Trp) | |
| 1 | g.229431837T>C | CA345145928 | ACTA1 | c.874A>G (p.Arg292Gly) c.739A>G (p.Arg247Gly) c.505A>G (p.Arg169Gly) | |
| 1 | g.229431837T>G | CA423754877 | ACTA1 | c.874A>C (p.Arg292=) c.739A>C (p.Arg247=) c.505A>C (p.Arg169=) | dbSNP |
| 1 | g.229431837T= | CA1226125505 | ACTA1 | c.874A= (p.Arg292=) c.739A= (p.Arg247=) c.505A= (p.Arg169=) | |
| 1 | g.229431838G>A | CA423754878 | ACTA1 | c.873C>T (p.Ile291=) c.738C>T (p.Ile246=) c.504C>T (p.Ile168=) | |
| 1 | g.229431838G>C | CA345145930 | ACTA1 | c.873C>G (p.Ile291Met) c.738C>G (p.Ile246Met) c.504C>G (p.Ile168Met) | |
| 1 | g.229431838G>T | CA423754879 | ACTA1 | c.873C>A (p.Ile291=) c.738C>A (p.Ile246=) c.504C>A (p.Ile168=) | |
| 1 | g.229431839A>C | CA345145937 | ACTA1 | c.872T>G (p.Ile291Ser) c.737T>G (p.Ile246Ser) c.503T>G (p.Ile168Ser) | |
| 1 | g.229431839A>G | CA345145933 | ACTA1 | c.872T>C (p.Ile291Thr) c.737T>C (p.Ile246Thr) c.503T>C (p.Ile168Thr) | |
| 1 | g.229431839A>T | CA345145935 | ACTA1 | c.872T>A (p.Ile291Asn) c.737T>A (p.Ile246Asn) c.503T>A (p.Ile168Asn) | |
| 1 | g.229431840T>A | CA345145941 | ACTA1 | c.871A>T (p.Ile291Phe) c.736A>T (p.Ile246Phe) c.502A>T (p.Ile168Phe) | |
| 1 | g.229431840T>C | CA345145943 | ACTA1 | c.871A>G (p.Ile291Val) c.736A>G (p.Ile246Val) c.502A>G (p.Ile168Val) | |
| 1 | g.229431840T>G | CA345145946 | ACTA1 | c.871A>C (p.Ile291Leu) c.736A>C (p.Ile246Leu) c.502A>C (p.Ile168Leu) | |
| 1 | g.229431841G>A | CA423754880 | ACTA1 | c.870C>T (p.Asp290=) c.735C>T (p.Asp245=) c.501C>T (p.Asp167=) | |
| 1 | g.229431841G>C | CA345145948 | ACTA1 | c.870C>G (p.Asp290Glu) c.735C>G (p.Asp245Glu) c.501C>G (p.Asp167Glu) | |
| 1 | g.229431841G>T | CA345145950 | ACTA1 | c.870C>A (p.Asp290Glu) c.735C>A (p.Asp245Glu) c.501C>A (p.Asp167Glu) | |
| 1 | g.229431842T>A | CA345145956 | ACTA1 | c.869A>T (p.Asp290Val) c.734A>T (p.Asp245Val) c.500A>T (p.Asp167Val) | |
| 1 | g.229431842T>C | CA345145953 | ACTA1 | c.869A>G (p.Asp290Gly) c.734A>G (p.Asp245Gly) c.500A>G (p.Asp167Gly) | |
| 1 | g.229431842T>G | CA345145954 | ACTA1 | c.869A>C (p.Asp290Ala) c.734A>C (p.Asp245Ala) c.500A>C (p.Asp167Ala) | |
| 1 | g.229431843C>A | CA345145959 | ACTA1 | c.868G>T (p.Asp290Tyr) c.733G>T (p.Asp245Tyr) c.499G>T (p.Asp167Tyr) | |
| 1 | g.229431843C= | CA1226125506 | ACTA1 | c.868G= (p.Asp290=) c.733G= (p.Asp245=) c.499G= (p.Asp167=) | |
| 1 | g.229431843C>G | CA345145962 | ACTA1 | c.868G>C (p.Asp290His) c.733G>C (p.Asp245His) c.499G>C (p.Asp167His) | ClinVar dbSNP |
| 1 | g.229431843C>T | CA345145964 | ACTA1 | c.868G>A (p.Asp290Asn) c.733G>A (p.Asp245Asn) c.499G>A (p.Asp167Asn) | ClinVar COSMIC |
| 1 | g.229431844G>A | CA208117 | ACTA1 | c.867C>T (p.Ile289=) c.732C>T (p.Ile244=) c.498C>T (p.Ile166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431844G>C | CA345145967 | ACTA1 | c.867C>G (p.Ile289Met) c.732C>G (p.Ile244Met) c.498C>G (p.Ile166Met) | |
| 1 | g.229431844G= | CA1141720053 | ACTA1 | c.867C= (p.Ile289=) c.732C= (p.Ile244=) c.498C= (p.Ile166=) | |
| 1 | g.229431844G>T | CA423754881 | ACTA1 | c.867C>A (p.Ile289=) c.732C>A (p.Ile244=) c.498C>A (p.Ile166=) |