Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432020T>A | CA258136 | ACTA1 | c.782A>T (p.Glu261Val) c.647A>T (p.Glu216Val) c.480-158A>T (n.480-158A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432020T>C | CA345146516 | ACTA1 | c.782A>G (p.Glu261Gly) c.647A>G (p.Glu216Gly) c.480-158A>G (n.480-158A>G) | gnomAD v4 |
1 | g.229432020T>G | CA345146514 | ACTA1 | c.782A>C (p.Glu261Ala) c.647A>C (p.Glu216Ala) c.480-158A>C (n.480-158A>C) | |
1 | g.229432020T= | CA1141581375 | ACTA1 | c.782A= (p.Glu261=) c.647A= (p.Glu216=) c.480-158A= (n.480-158A=) | |
1 | g.229432021C>A | CA345146519 | ACTA1 | c.781G>T (p.Glu261Ter) c.646G>T (p.Glu216Ter) c.480-159G>T (n.480-159G>T) | |
1 | g.229432021C>G | CA345146521 | ACTA1 | c.781G>C (p.Glu261Gln) c.646G>C (p.Glu216Gln) c.480-159G>C (n.480-159G>C) | |
1 | g.229432021C>T | CA345146523 | ACTA1 | c.781G>A (p.Glu261Lys) c.646G>A (p.Glu216Lys) c.480-159G>A (n.480-159G>A) | |
1 | g.229432022C>A | CA423754956 | ACTA1 | c.780G>T (p.Pro260=) c.645G>T (p.Pro215=) c.480-160G>T (n.480-160G>T) | dbSNP |
1 | g.229432022C= | CA1226125617 | ACTA1 | c.780G= (p.Pro260=) c.645G= (p.Pro215=) c.480-160G= (n.480-160G=) | |
1 | g.229432022C>G | CA423754958 | ACTA1 | c.780G>C (p.Pro260=) c.645G>C (p.Pro215=) c.480-160G>C (n.480-160G>C) | |
1 | g.229432022C>T | CA423754959 | ACTA1 | c.780G>A (p.Pro260=) c.645G>A (p.Pro215=) c.480-160G>A (n.480-160G>A) | dbSNP gnomAD v4 |
1 | g.229432023G>A | CA345146525 | ACTA1 | c.779C>T (p.Pro260Leu) c.644C>T (p.Pro215Leu) c.480-161C>T (n.480-161C>T) | |
1 | g.229432023G>C | CA345146527 | ACTA1 | c.779C>G (p.Pro260Arg) c.644C>G (p.Pro215Arg) c.480-161C>G (n.480-161C>G) | |
1 | g.229432023G>T | CA345146528 | ACTA1 | c.779C>A (p.Pro260Gln) c.644C>A (p.Pro215Gln) c.480-161C>A (n.480-161C>A) | |
1 | g.229432024G>A | CA345146531 | ACTA1 | c.778C>T (p.Pro260Ser) c.643C>T (p.Pro215Ser) c.480-162C>T (n.480-162C>T) | |
1 | g.229432024G>C | CA345146533 | ACTA1 | c.778C>G (p.Pro260Ala) c.643C>G (p.Pro215Ala) c.480-162C>G (n.480-162C>G) | |
1 | g.229432024G>T | CA345146534 | ACTA1 | c.778C>A (p.Pro260Thr) c.643C>A (p.Pro215Thr) c.480-162C>A (n.480-162C>A) | |
1 | g.229432025G>A | CA423754964 | ACTA1 | c.777C>T (p.Cys259=) c.642C>T (p.Cys214=) c.480-163C>T (n.480-163C>T) | gnomAD v4 |
1 | g.229432025G>C | CA345146536 | ACTA1 | c.777C>G (p.Cys259Trp) c.642C>G (p.Cys214Trp) c.480-163C>G (n.480-163C>G) | |
1 | g.229432025G>T | CA345146539 | ACTA1 | c.777C>A (p.Cys259Ter) c.642C>A (p.Cys214Ter) c.480-163C>A (n.480-163C>A) | |
1 | g.229432026C>A | CA345146541 | ACTA1 | c.776G>T (p.Cys259Phe) c.641G>T (p.Cys214Phe) c.480-164G>T (n.480-164G>T) | gnomAD v4 |
1 | g.229432026C>G | CA345146545 | ACTA1 | c.776G>C (p.Cys259Ser) c.641G>C (p.Cys214Ser) c.480-164G>C (n.480-164G>C) | |
1 | g.229432026C>T | CA345146543 | ACTA1 | c.776G>A (p.Cys259Tyr) c.641G>A (p.Cys214Tyr) c.480-164G>A (n.480-164G>A) | |
1 | g.229432027A>C | CA345146546 | ACTA1 | c.775T>G (p.Cys259Gly) c.640T>G (p.Cys214Gly) c.480-165T>G (n.480-165T>G) | |
1 | g.229432027A>G | CA345146549 | ACTA1 | c.775T>C (p.Cys259Arg) c.640T>C (p.Cys214Arg) c.480-165T>C (n.480-165T>C) | |
1 | g.229432027A>T | CA345146547 | ACTA1 | c.775T>A (p.Cys259Ser) c.640T>A (p.Cys214Ser) c.480-165T>A (n.480-165T>A) | |
1 | g.229432028G>A | CA1442805 | ACTA1 | c.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 |
1 | g.229432028G>C | CA423754971 | ACTA1 | c.774C>G (p.Arg258=) c.639C>G (p.Arg213=) c.480-166C>G (n.480-166C>G) | |
1 | g.229432028G= | CA1226125618 | ACTA1 | c.774C= (p.Arg258=) c.639C= (p.Arg213=) c.480-166C= (n.480-166C=) | |
1 | g.229432028G>T | CA423754969 | ACTA1 | c.774C>A (p.Arg258=) c.639C>A (p.Arg213=) c.480-166C>A (n.480-166C>A) | |
1 | g.229432029C>A | CA345146558 | ACTA1 | c.773G>T (p.Arg258Leu) c.638G>T (p.Arg213Leu) c.480-167G>T (n.480-167G>T) | |
1 | g.229432029C= | CA1226125619 | ACTA1 | c.773G= (p.Arg258=) c.638G= (p.Arg213=) c.480-167G= (n.480-167G=) | |
1 | g.229432029C>G | CA345146560 | ACTA1 | c.773G>C (p.Arg258Pro) c.638G>C (p.Arg213Pro) c.480-167G>C (n.480-167G>C) | |
1 | g.229432029C>T | CA345146563 | ACTA1 | c.773G>A (p.Arg258His) c.638G>A (p.Arg213His) c.480-167G>A (n.480-167G>A) | ClinVar dbSNP |
1 | g.229432030G>A | CA345146565 | ACTA1 | c.772C>T (p.Arg258Cys) c.637C>T (p.Arg213Cys) c.480-168C>T (n.480-168C>T) | |
1 | g.229432030G>C | CA345146567 | ACTA1 | c.772C>G (p.Arg258Gly) c.637C>G (p.Arg213Gly) c.480-168C>G (n.480-168C>G) | |
1 | g.229432030G>T | CA345146569 | ACTA1 | c.772C>A (p.Arg258Ser) c.637C>A (p.Arg213Ser) c.480-168C>A (n.480-168C>A) | |
1 | g.229432031G>A | CA423754975 | ACTA1 | c.771C>T (p.Phe257=) c.636C>T (p.Phe212=) c.480-169C>T (n.480-169C>T) | |
1 | g.229432031G>C | CA345146571 | ACTA1 | c.771C>G (p.Phe257Leu) c.636C>G (p.Phe212Leu) c.480-169C>G (n.480-169C>G) | |
1 | g.229432031G>T | CA345146573 | ACTA1 | c.771C>A (p.Phe257Leu) c.636C>A (p.Phe212Leu) c.480-169C>A (n.480-169C>A) | COSMIC |
1 | g.229432032A>C | CA345146578 | ACTA1 | c.770T>G (p.Phe257Cys) c.635T>G (p.Phe212Cys) c.480-170T>G (n.480-170T>G) | |
1 | g.229432032A>G | CA345146580 | ACTA1 | c.770T>C (p.Phe257Ser) c.635T>C (p.Phe212Ser) c.480-170T>C (n.480-170T>C) | |
1 | g.229432032A>T | CA345146582 | ACTA1 | c.770T>A (p.Phe257Tyr) c.635T>A (p.Phe212Tyr) c.480-170T>A (n.480-170T>A) | |
1 | g.229432033A>C | CA345146587 | ACTA1 | c.769T>G (p.Phe257Val) c.634T>G (p.Phe212Val) c.480-171T>G (n.480-171T>G) | |
1 | g.229432033A>G | CA345146583 | ACTA1 | c.769T>C (p.Phe257Leu) c.634T>C (p.Phe212Leu) c.480-171T>C (n.480-171T>C) | |
1 | g.229432033A>T | CA345146585 | ACTA1 | c.769T>A (p.Phe257Ile) c.634T>A (p.Phe212Ile) c.480-171T>A (n.480-171T>A) | |
1 | g.229432034G>A | CA423754984 | ACTA1 | c.768C>T (p.Arg256=) c.633C>T (p.Arg211=) c.480-172C>T (n.480-172C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432034G>C | CA423754983 | ACTA1 | c.768C>G (p.Arg256=) c.633C>G (p.Arg211=) c.480-172C>G (n.480-172C>G) | |
1 | g.229432034G= | CA1226125620 | ACTA1 | c.768C= (p.Arg256=) c.633C= (p.Arg211=) c.480-172C= (n.480-172C=) | |
1 | g.229432034G>T | CA423754981 | ACTA1 | c.768C>A (p.Arg256=) c.633C>A (p.Arg211=) c.480-172C>A (n.480-172C>A) |