Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432020T>ACA258136ACTA1c.782A>T (p.Glu261Val)
c.647A>T (p.Glu216Val)
c.480-158A>T (n.480-158A>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.229432020T>CCA345146516ACTA1c.782A>G (p.Glu261Gly)
c.647A>G (p.Glu216Gly)
c.480-158A>G (n.480-158A>G)
gnomAD v4
1g.229432020T>GCA345146514ACTA1c.782A>C (p.Glu261Ala)
c.647A>C (p.Glu216Ala)
c.480-158A>C (n.480-158A>C)
1g.229432020T=CA1141581375ACTA1c.782A= (p.Glu261=)
c.647A= (p.Glu216=)
c.480-158A= (n.480-158A=)
1g.229432021C>ACA345146519ACTA1c.781G>T (p.Glu261Ter)
c.646G>T (p.Glu216Ter)
c.480-159G>T (n.480-159G>T)
1g.229432021C>GCA345146521ACTA1c.781G>C (p.Glu261Gln)
c.646G>C (p.Glu216Gln)
c.480-159G>C (n.480-159G>C)
1g.229432021C>TCA345146523ACTA1c.781G>A (p.Glu261Lys)
c.646G>A (p.Glu216Lys)
c.480-159G>A (n.480-159G>A)
1g.229432022C>ACA423754956ACTA1c.780G>T (p.Pro260=)
c.645G>T (p.Pro215=)
c.480-160G>T (n.480-160G>T)
dbSNP
1g.229432022C=CA1226125617ACTA1c.780G= (p.Pro260=)
c.645G= (p.Pro215=)
c.480-160G= (n.480-160G=)
1g.229432022C>GCA423754958ACTA1c.780G>C (p.Pro260=)
c.645G>C (p.Pro215=)
c.480-160G>C (n.480-160G>C)
1g.229432022C>TCA423754959ACTA1c.780G>A (p.Pro260=)
c.645G>A (p.Pro215=)
c.480-160G>A (n.480-160G>A)
dbSNP gnomAD v4
1g.229432023G>ACA345146525ACTA1c.779C>T (p.Pro260Leu)
c.644C>T (p.Pro215Leu)
c.480-161C>T (n.480-161C>T)
1g.229432023G>CCA345146527ACTA1c.779C>G (p.Pro260Arg)
c.644C>G (p.Pro215Arg)
c.480-161C>G (n.480-161C>G)
1g.229432023G>TCA345146528ACTA1c.779C>A (p.Pro260Gln)
c.644C>A (p.Pro215Gln)
c.480-161C>A (n.480-161C>A)
1g.229432024G>ACA345146531ACTA1c.778C>T (p.Pro260Ser)
c.643C>T (p.Pro215Ser)
c.480-162C>T (n.480-162C>T)
1g.229432024G>CCA345146533ACTA1c.778C>G (p.Pro260Ala)
c.643C>G (p.Pro215Ala)
c.480-162C>G (n.480-162C>G)
1g.229432024G>TCA345146534ACTA1c.778C>A (p.Pro260Thr)
c.643C>A (p.Pro215Thr)
c.480-162C>A (n.480-162C>A)
1g.229432025G>ACA423754964ACTA1c.777C>T (p.Cys259=)
c.642C>T (p.Cys214=)
c.480-163C>T (n.480-163C>T)
gnomAD v4
1g.229432025G>CCA345146536ACTA1c.777C>G (p.Cys259Trp)
c.642C>G (p.Cys214Trp)
c.480-163C>G (n.480-163C>G)
1g.229432025G>TCA345146539ACTA1c.777C>A (p.Cys259Ter)
c.642C>A (p.Cys214Ter)
c.480-163C>A (n.480-163C>A)
1g.229432026C>ACA345146541ACTA1c.776G>T (p.Cys259Phe)
c.641G>T (p.Cys214Phe)
c.480-164G>T (n.480-164G>T)
gnomAD v4
1g.229432026C>GCA345146545ACTA1c.776G>C (p.Cys259Ser)
c.641G>C (p.Cys214Ser)
c.480-164G>C (n.480-164G>C)
1g.229432026C>TCA345146543ACTA1c.776G>A (p.Cys259Tyr)
c.641G>A (p.Cys214Tyr)
c.480-164G>A (n.480-164G>A)
1g.229432027A>CCA345146546ACTA1c.775T>G (p.Cys259Gly)
c.640T>G (p.Cys214Gly)
c.480-165T>G (n.480-165T>G)
1g.229432027A>GCA345146549ACTA1c.775T>C (p.Cys259Arg)
c.640T>C (p.Cys214Arg)
c.480-165T>C (n.480-165T>C)
1g.229432027A>TCA345146547ACTA1c.775T>A (p.Cys259Ser)
c.640T>A (p.Cys214Ser)
c.480-165T>A (n.480-165T>A)
1g.229432028G>ACA1442805ACTA1c.774C>T (p.Arg258=)
c.639C>T (p.Arg213=)
c.480-166C>T (n.480-166C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432028G>CCA423754971ACTA1c.774C>G (p.Arg258=)
c.639C>G (p.Arg213=)
c.480-166C>G (n.480-166C>G)
1g.229432028G=CA1226125618ACTA1c.774C= (p.Arg258=)
c.639C= (p.Arg213=)
c.480-166C= (n.480-166C=)
1g.229432028G>TCA423754969ACTA1c.774C>A (p.Arg258=)
c.639C>A (p.Arg213=)
c.480-166C>A (n.480-166C>A)
1g.229432029C>ACA345146558ACTA1c.773G>T (p.Arg258Leu)
c.638G>T (p.Arg213Leu)
c.480-167G>T (n.480-167G>T)
1g.229432029C=CA1226125619ACTA1c.773G= (p.Arg258=)
c.638G= (p.Arg213=)
c.480-167G= (n.480-167G=)
1g.229432029C>GCA345146560ACTA1c.773G>C (p.Arg258Pro)
c.638G>C (p.Arg213Pro)
c.480-167G>C (n.480-167G>C)
1g.229432029C>TCA345146563ACTA1c.773G>A (p.Arg258His)
c.638G>A (p.Arg213His)
c.480-167G>A (n.480-167G>A)
ClinVar dbSNP
1g.229432030G>ACA345146565ACTA1c.772C>T (p.Arg258Cys)
c.637C>T (p.Arg213Cys)
c.480-168C>T (n.480-168C>T)
1g.229432030G>CCA345146567ACTA1c.772C>G (p.Arg258Gly)
c.637C>G (p.Arg213Gly)
c.480-168C>G (n.480-168C>G)
1g.229432030G>TCA345146569ACTA1c.772C>A (p.Arg258Ser)
c.637C>A (p.Arg213Ser)
c.480-168C>A (n.480-168C>A)
1g.229432031G>ACA423754975ACTA1c.771C>T (p.Phe257=)
c.636C>T (p.Phe212=)
c.480-169C>T (n.480-169C>T)
1g.229432031G>CCA345146571ACTA1c.771C>G (p.Phe257Leu)
c.636C>G (p.Phe212Leu)
c.480-169C>G (n.480-169C>G)
1g.229432031G>TCA345146573ACTA1c.771C>A (p.Phe257Leu)
c.636C>A (p.Phe212Leu)
c.480-169C>A (n.480-169C>A)
COSMIC
1g.229432032A>CCA345146578ACTA1c.770T>G (p.Phe257Cys)
c.635T>G (p.Phe212Cys)
c.480-170T>G (n.480-170T>G)
1g.229432032A>GCA345146580ACTA1c.770T>C (p.Phe257Ser)
c.635T>C (p.Phe212Ser)
c.480-170T>C (n.480-170T>C)
1g.229432032A>TCA345146582ACTA1c.770T>A (p.Phe257Tyr)
c.635T>A (p.Phe212Tyr)
c.480-170T>A (n.480-170T>A)
1g.229432033A>CCA345146587ACTA1c.769T>G (p.Phe257Val)
c.634T>G (p.Phe212Val)
c.480-171T>G (n.480-171T>G)
1g.229432033A>GCA345146583ACTA1c.769T>C (p.Phe257Leu)
c.634T>C (p.Phe212Leu)
c.480-171T>C (n.480-171T>C)
1g.229432033A>TCA345146585ACTA1c.769T>A (p.Phe257Ile)
c.634T>A (p.Phe212Ile)
c.480-171T>A (n.480-171T>A)
1g.229432034G>ACA423754984ACTA1c.768C>T (p.Arg256=)
c.633C>T (p.Arg211=)
c.480-172C>T (n.480-172C>T)
dbSNP gnomAD v3 gnomAD v4
1g.229432034G>CCA423754983ACTA1c.768C>G (p.Arg256=)
c.633C>G (p.Arg211=)
c.480-172C>G (n.480-172C>G)
1g.229432034G=CA1226125620ACTA1c.768C= (p.Arg256=)
c.633C= (p.Arg211=)
c.480-172C= (n.480-172C=)
1g.229432034G>TCA423754981ACTA1c.768C>A (p.Arg256=)
c.633C>A (p.Arg211=)
c.480-172C>A (n.480-172C>A)

Number of alleles fetched