Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar |
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) | ClinVar |
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) | |
1 | g.229432035C>A | CA345146590 | ACTA1 | c.767G>T (p.Arg256Leu) c.632G>T (p.Arg211Leu) c.480-173G>T (n.480-173G>T) | |
1 | g.229432035C= | CA1226125621 | ACTA1 | c.767G= (p.Arg256=) c.632G= (p.Arg211=) c.480-173G= (n.480-173G=) | |
1 | g.229432035C>G | CA345146591 | ACTA1 | c.767G>C (p.Arg256Pro) c.632G>C (p.Arg211Pro) c.480-173G>C (n.480-173G>C) | |
1 | g.229432035C>T | CA345146592 | ACTA1 | c.767G>A (p.Arg256His) c.632G>A (p.Arg211His) c.480-173G>A (n.480-173G>A) | ClinVar dbSNP |
1 | g.229432036G>A | CA345146594 | ACTA1 | c.766C>T (p.Arg256Cys) c.631C>T (p.Arg211Cys) c.480-174C>T (n.480-174C>T) | ClinVar dbSNP COSMIC |
1 | g.229432036G>C | CA345146596 | ACTA1 | c.766C>G (p.Arg256Gly) c.631C>G (p.Arg211Gly) c.480-174C>G (n.480-174C>G) | ClinVar |
1 | g.229432036G= | CA1226125622 | ACTA1 | c.766C= (p.Arg256=) c.631C= (p.Arg211=) c.480-174C= (n.480-174C=) | |
1 | g.229432036G>T | CA345146598 | ACTA1 | c.766C>A (p.Arg256Ser) c.631C>A (p.Arg211Ser) c.480-174C>A (n.480-174C>A) | |
1 | g.229432037C>A | CA345146601 | ACTA1 | c.765G>T (p.Glu255Asp) c.630G>T (p.Glu210Asp) c.480-175G>T (n.480-175G>T) | |
1 | g.229432037C>G | CA345146603 | ACTA1 | c.765G>C (p.Glu255Asp) c.630G>C (p.Glu210Asp) c.480-175G>C (n.480-175G>C) | |
1 | g.229432037C>T | CA423754985 | ACTA1 | c.765G>A (p.Glu255=) c.630G>A (p.Glu210=) c.480-175G>A (n.480-175G>A) | gnomAD v4 |
1 | g.229432038T>A | CA345146605 | ACTA1 | c.764A>T (p.Glu255Val) c.629A>T (p.Glu210Val) c.480-176A>T (n.480-176A>T) | |
1 | g.229432038T>C | CA345146608 | ACTA1 | c.764A>G (p.Glu255Gly) c.629A>G (p.Glu210Gly) c.480-176A>G (n.480-176A>G) | |
1 | g.229432038T>G | CA345146610 | ACTA1 | c.764A>C (p.Glu255Ala) c.629A>C (p.Glu210Ala) c.480-176A>C (n.480-176A>C) | |
1 | g.229432039C>A | CA345146617 | ACTA1 | c.763G>T (p.Glu255Ter) c.628G>T (p.Glu210Ter) c.480-177G>T (n.480-177G>T) | dbSNP |
1 | g.229432039C= | CA1226125623 | ACTA1 | c.763G= (p.Glu255=) c.628G= (p.Glu210=) c.480-177G= (n.480-177G=) | |
1 | g.229432039C>G | CA345146616 | ACTA1 | c.763G>C (p.Glu255Gln) c.628G>C (p.Glu210Gln) c.480-177G>C (n.480-177G>C) | |
1 | g.229432039C>T | CA345146614 | ACTA1 | c.763G>A (p.Glu255Lys) c.628G>A (p.Glu210Lys) c.480-177G>A (n.480-177G>A) | |
1 | g.229432040G>A | CA423754989 | ACTA1 | c.762C>T (p.Asn254=) c.627C>T (p.Asn209=) c.480-178C>T (n.480-178C>T) | dbSNP gnomAD v4 COSMIC |
1 | g.229432040G>C | CA345146620 | ACTA1 | c.762C>G (p.Asn254Lys) c.627C>G (p.Asn209Lys) c.480-178C>G (n.480-178C>G) | ClinVar dbSNP |
1 | g.229432040G= | CA1226125624 | ACTA1 | c.762C= (p.Asn254=) c.627C= (p.Asn209=) c.480-178C= (n.480-178C=) | |
1 | g.229432040G>T | CA345146622 | ACTA1 | c.762C>A (p.Asn254Lys) c.627C>A (p.Asn209Lys) c.480-178C>A (n.480-178C>A) | COSMIC |
1 | g.229432041T>A | CA345146625 | ACTA1 | c.761A>T (p.Asn254Ile) c.626A>T (p.Asn209Ile) c.480-179A>T (n.480-179A>T) | |
1 | g.229432041T>C | CA345146628 | ACTA1 | c.761A>G (p.Asn254Ser) c.626A>G (p.Asn209Ser) c.480-179A>G (n.480-179A>G) | |
1 | g.229432041T>G | CA345146630 | ACTA1 | c.761A>C (p.Asn254Thr) c.626A>C (p.Asn209Thr) c.480-179A>C (n.480-179A>C) | |
1 | g.229432042T>A | CA345146633 | ACTA1 | c.760A>T (p.Asn254Tyr) c.625A>T (p.Asn209Tyr) c.480-180A>T (n.480-180A>T) | |
1 | g.229432042T>C | CA345146636 | ACTA1 | c.760A>G (p.Asn254Asp) c.625A>G (p.Asn209Asp) c.480-180A>G (n.480-180A>G) | |
1 | g.229432042T>G | CA345146638 | ACTA1 | c.760A>C (p.Asn254His) c.625A>C (p.Asn209His) c.480-180A>C (n.480-180A>C) | |
1 | g.229432043G>A | CA423754992 | ACTA1 | c.759C>T (p.Gly253=) c.624C>T (p.Gly208=) c.480-181C>T (n.480-181C>T) | |
1 | g.229432043G>C | CA423754994 | ACTA1 | c.759C>G (p.Gly253=) c.624C>G (p.Gly208=) c.480-181C>G (n.480-181C>G) | dbSNP |
1 | g.229432043G= | CA1226125625 | ACTA1 | c.759C= (p.Gly253=) c.624C= (p.Gly208=) c.480-181C= (n.480-181C=) | |
1 | g.229432043G>T | CA423754993 | ACTA1 | c.759C>A (p.Gly253=) c.624C>A (p.Gly208=) c.480-181C>A (n.480-181C>A) | |
1 | g.229432044C>A | CA345146641 | ACTA1 | c.758G>T (p.Gly253Val) c.623G>T (p.Gly208Val) c.480-182G>T (n.480-182G>T) | |
1 | g.229432044C>G | CA345146643 | ACTA1 | c.758G>C (p.Gly253Ala) c.623G>C (p.Gly208Ala) c.480-182G>C (n.480-182G>C) | |
1 | g.229432044C>T | CA345146645 | ACTA1 | c.758G>A (p.Gly253Asp) c.623G>A (p.Gly208Asp) c.480-182G>A (n.480-182G>A) | ClinVar |
1 | g.229432045C>A | CA345146649 | ACTA1 | c.757G>T (p.Gly253Cys) c.622G>T (p.Gly208Cys) c.480-183G>T (n.480-183G>T) | ClinVar dbSNP |
1 | g.229432045C>G | CA345146651 | ACTA1 | c.757G>C (p.Gly253Arg) c.622G>C (p.Gly208Arg) c.480-183G>C (n.480-183G>C) | gnomAD v4 |
1 | g.229432045C>T | CA345146652 | ACTA1 | c.757G>A (p.Gly253Ser) c.622G>A (p.Gly208Ser) c.480-183G>A (n.480-183G>A) | COSMIC |
1 | g.229432046G>A | CA423754997 | ACTA1 | c.756C>T (p.Ile252=) c.621C>T (p.Ile207=) c.480-184C>T (n.480-184C>T) | dbSNP gnomAD v4 COSMIC |
1 | g.229432046G>C | CA345146657 | ACTA1 | c.756C>G (p.Ile252Met) c.621C>G (p.Ile207Met) c.480-184C>G (n.480-184C>G) | COSMIC |
1 | g.229432046G= | CA1226125626 | ACTA1 | c.756C= (p.Ile252=) c.621C= (p.Ile207=) c.480-184C= (n.480-184C=) | |
1 | g.229432046G>T | CA423754996 | ACTA1 | c.756C>A (p.Ile252=) c.621C>A (p.Ile207=) c.480-184C>A (n.480-184C>A) | gnomAD v4 |
1 | g.229432047A>C | CA345146661 | ACTA1 | c.755T>G (p.Ile252Ser) c.620T>G (p.Ile207Ser) c.480-185T>G (n.480-185T>G) | |
1 | g.229432047A>G | CA345146663 | ACTA1 | c.755T>C (p.Ile252Thr) c.620T>C (p.Ile207Thr) c.480-185T>C (n.480-185T>C) | |
1 | g.229432047A>T | CA345146665 | ACTA1 | c.755T>A (p.Ile252Asn) c.620T>A (p.Ile207Asn) c.480-185T>A (n.480-185T>A) | |
1 | g.229432048T>A | CA345146668 | ACTA1 | c.754A>T (p.Ile252Phe) c.619A>T (p.Ile207Phe) c.480-186A>T (n.480-186A>T) | |
1 | g.229432048T>C | CA345146669 | ACTA1 | c.754A>G (p.Ile252Val) c.619A>G (p.Ile207Val) c.480-186A>G (n.480-186A>G) | gnomAD v4 |
1 | g.229432048T>G | CA345146670 | ACTA1 | c.754A>C (p.Ile252Leu) c.619A>C (p.Ile207Leu) c.480-186A>C (n.480-186A>C) | |
1 | g.229432049G>A | CA423755002 | ACTA1 | c.753C>T (p.Thr251=) c.618C>T (p.Thr206=) c.480-187C>T (n.480-187C>T) | gnomAD v4 |
1 | g.229432049G>C | CA423755004 | ACTA1 | c.753C>G (p.Thr251=) c.618C>G (p.Thr206=) c.480-187C>G (n.480-187C>G) | |
1 | g.229432049G>T | CA423755000 | ACTA1 | c.753C>A (p.Thr251=) c.618C>A (p.Thr206=) c.480-187C>A (n.480-187C>A) | |
1 | g.229432050G>A | CA345146673 | ACTA1 | c.752C>T (p.Thr251Ile) c.617C>T (p.Thr206Ile) c.480-188C>T (n.480-188C>T) | |
1 | g.229432050G>C | CA345146676 | ACTA1 | c.752C>G (p.Thr251Ser) c.617C>G (p.Thr206Ser) c.480-188C>G (n.480-188C>G) | |
1 | g.229432050G>T | CA345146678 | ACTA1 | c.752C>A (p.Thr251Asn) c.617C>A (p.Thr206Asn) c.480-188C>A (n.480-188C>A) | gnomAD v4 |
1 | g.229432051T>A | CA345146681 | ACTA1 | c.751A>T (p.Thr251Ser) c.616A>T (p.Thr206Ser) c.480-189A>T (n.480-189A>T) | ClinVar |
1 | g.229432051T>C | CA345146684 | ACTA1 | c.751A>G (p.Thr251Ala) c.616A>G (p.Thr206Ala) c.480-189A>G (n.480-189A>G) | |
1 | g.229432051T>G | CA345146687 | ACTA1 | c.751A>C (p.Thr251Pro) c.616A>C (p.Thr206Pro) c.480-189A>C (n.480-189A>C) | |
1 | g.229432052G>A | CA423755006 | ACTA1 | c.750C>T (p.Ile250=) c.615C>T (p.Ile205=) c.480-190C>T (n.480-190C>T) | |
1 | g.229432052G>C | CA345146689 | ACTA1 | c.750C>G (p.Ile250Met) c.615C>G (p.Ile205Met) c.480-190C>G (n.480-190C>G) | |
1 | g.229432052G>T | CA423755008 | ACTA1 | c.750C>A (p.Ile250=) c.615C>A (p.Ile205=) c.480-190C>A (n.480-190C>A) | |
1 | g.229432053A= | CA1226125627 | ACTA1 | c.749T= (p.Ile250=) c.614T= (p.Ile205=) c.480-191T= (n.480-191T=) | |
1 | g.229432053A>C | CA345146697 | ACTA1 | c.749T>G (p.Ile250Ser) c.614T>G (p.Ile205Ser) c.480-191T>G (n.480-191T>G) | |
1 | g.229432053A>G | CA345146692 | ACTA1 | c.749T>C (p.Ile250Thr) c.614T>C (p.Ile205Thr) c.480-191T>C (n.480-191T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432053A>T | CA345146695 | ACTA1 | c.749T>A (p.Ile250Asn) c.614T>A (p.Ile205Asn) c.480-191T>A (n.480-191T>A) | |
1 | g.229432054T>A | CA345146699 | ACTA1 | c.748A>T (p.Ile250Phe) c.613A>T (p.Ile205Phe) c.480-192A>T (n.480-192A>T) | |
1 | g.229432054T>C | CA345146704 | ACTA1 | c.748A>G (p.Ile250Val) c.613A>G (p.Ile205Val) c.480-192A>G (n.480-192A>G) | dbSNP gnomAD v4 |
1 | g.229432054T>G | CA345146701 | ACTA1 | c.748A>C (p.Ile250Leu) c.613A>C (p.Ile205Leu) c.480-192A>C (n.480-192A>C) | |
1 | g.229432054T= | CA1226125628 | ACTA1 | c.748A= (p.Ile250=) c.613A= (p.Ile205=) c.480-192A= (n.480-192A=) | |
1 | g.229432055G>A | CA423755014 | ACTA1 | c.747C>T (p.Val249=) c.612C>T (p.Val204=) c.480-193C>T (n.480-193C>T) | |
1 | g.229432055G>C | CA423755015 | ACTA1 | c.747C>G (p.Val249=) c.612C>G (p.Val204=) c.480-193C>G (n.480-193C>G) | |
1 | g.229432055G>T | CA423755016 | ACTA1 | c.747C>A (p.Val249=) c.612C>A (p.Val204=) c.480-193C>A (n.480-193C>A) | |
1 | g.229432056A>C | CA345146707 | ACTA1 | c.746T>G (p.Val249Gly) c.611T>G (p.Val204Gly) c.480-194T>G (n.480-194T>G) | |
1 | g.229432056A>G | CA345146710 | ACTA1 | c.746T>C (p.Val249Ala) c.611T>C (p.Val204Ala) c.480-194T>C (n.480-194T>C) | |
1 | g.229432056A>T | CA345146712 | ACTA1 | c.746T>A (p.Val249Asp) c.611T>A (p.Val204Asp) c.480-194T>A (n.480-194T>A) | |
1 | g.229432057C>A | CA345146716 | ACTA1 | c.745G>T (p.Val249Phe) c.610G>T (p.Val204Phe) c.480-195G>T (n.480-195G>T) | |
1 | g.229432057C= | CA1142322749 | ACTA1 | c.745G= (p.Val249=) c.610G= (p.Val204=) c.480-195G= (n.480-195G=) | |
1 | g.229432057C>G | CA345146719 | ACTA1 | c.745G>C (p.Val249Leu) c.610G>C (p.Val204Leu) c.480-195G>C (n.480-195G>C) | |
1 | g.229432057C>T | CA1442806 | ACTA1 | c.745G>A (p.Val249Ile) c.610G>A (p.Val204Ile) c.480-195G>A (n.480-195G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432058C>A | CA345146724 | ACTA1 | c.744G>T (p.Gln248His) c.609G>T (p.Gln203His) c.480-196G>T (n.480-196G>T) | |
1 | g.229432058C= | CA1226125629 | ACTA1 | c.744G= (p.Gln248=) c.609G= (p.Gln203=) c.480-196G= (n.480-196G=) | |
1 | g.229432058C>G | CA345146727 | ACTA1 | c.744G>C (p.Gln248His) c.609G>C (p.Gln203His) c.480-196G>C (n.480-196G>C) | |
1 | g.229432058C>T | CA423755021 | ACTA1 | c.744G>A (p.Gln248=) c.609G>A (p.Gln203=) c.480-196G>A (n.480-196G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432059T>A | CA345146730 | ACTA1 | c.743A>T (p.Gln248Leu) c.608A>T (p.Gln203Leu) c.480-197A>T (n.480-197A>T) | |
1 | g.229432059T>C | CA345146731 | ACTA1 | c.743A>G (p.Gln248Arg) c.608A>G (p.Gln203Arg) c.480-197A>G (n.480-197A>G) | |
1 | g.229432059T>G | CA345146733 | ACTA1 | c.743A>C (p.Gln248Pro) c.608A>C (p.Gln203Pro) c.480-197A>C (n.480-197A>C) | |
1 | g.229432060G>A | CA345146741 | ACTA1 | c.742C>T (p.Gln248Ter) c.607C>T (p.Gln203Ter) c.480-198C>T (n.480-198C>T) | |
1 | g.229432060G>C | CA345146739 | ACTA1 | c.742C>G (p.Gln248Glu) c.607C>G (p.Gln203Glu) c.480-198C>G (n.480-198C>G) | |
1 | g.229432060G= | CA1226125630 | ACTA1 | c.742C= (p.Gln248=) c.607C= (p.Gln203=) c.480-198C= (n.480-198C=) | |
1 | g.229432060G>T | CA345146737 | ACTA1 | c.742C>A (p.Gln248Lys) c.607C>A (p.Gln203Lys) c.480-198C>A (n.480-198C>A) | ClinVar dbSNP |
1 | g.229432061C>A | CA423755025 | ACTA1 | c.741G>T (p.Gly247=) c.606G>T (p.Gly202=) c.480-199G>T (n.480-199G>T) | dbSNP |
1 | g.229432061C= | CA1226125631 | ACTA1 | c.741G= (p.Gly247=) c.606G= (p.Gly202=) c.480-199G= (n.480-199G=) | |
1 | g.229432061C>G | CA423755026 | ACTA1 | c.741G>C (p.Gly247=) c.606G>C (p.Gly202=) c.480-199G>C (n.480-199G>C) | dbSNP |
1 | g.229432061C>T | CA423755027 | ACTA1 | c.741G>A (p.Gly247=) c.606G>A (p.Gly202=) c.480-199G>A (n.480-199G>A) | gnomAD v4 |
1 | g.229432062C>A | CA345146744 | ACTA1 | c.740G>T (p.Gly247Val) c.605G>T (p.Gly202Val) c.480-200G>T (n.480-200G>T) | |
1 | g.229432062C>G | CA345146747 | ACTA1 | c.740G>C (p.Gly247Ala) c.605G>C (p.Gly202Ala) c.480-200G>C (n.480-200G>C) | |
1 | g.229432062C>T | CA345146748 | ACTA1 | c.740G>A (p.Gly247Glu) c.605G>A (p.Gly202Glu) c.480-200G>A (n.480-200G>A) | gnomAD v4 |
1 | g.229432063C>A | CA345146750 | ACTA1 | c.739G>T (p.Gly247Trp) c.604G>T (p.Gly202Trp) c.480-201G>T (n.480-201G>T) | |
1 | g.229432063C= | CA1226125632 | ACTA1 | c.739G= (p.Gly247=) c.604G= (p.Gly202=) c.480-201G= (n.480-201G=) | |
1 | g.229432063C>G | CA16603588 | ACTA1 | c.739G>C (p.Gly247Arg) c.604G>C (p.Gly202Arg) c.480-201G>C (n.480-201G>C) | ClinVar dbSNP |
1 | g.229432063C>T | CA345146753 | ACTA1 | c.739G>A (p.Gly247Arg) c.604G>A (p.Gly202Arg) c.480-201G>A (n.480-201G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.229432064G>A | CA1442807 | ACTA1 | c.738C>T (p.Asp246=) c.603C>T (p.Asp201=) c.480-202C>T (n.480-202C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.229432064G>C | CA345146759 | ACTA1 | c.738C>G (p.Asp246Glu) c.603C>G (p.Asp201Glu) c.480-202C>G (n.480-202C>G) | ClinVar |
1 | g.229432064G= | CA1148894981 | ACTA1 | c.738C= (p.Asp246=) c.603C= (p.Asp201=) c.480-202C= (n.480-202C=) | |
1 | g.229432064G>T | CA345146761 | ACTA1 | c.738C>A (p.Asp246Glu) c.603C>A (p.Asp201Glu) c.480-202C>A (n.480-202C>A) | ClinVar dbSNP |
1 | g.229432065T>A | CA345146763 | ACTA1 | c.737A>T (p.Asp246Val) c.602A>T (p.Asp201Val) c.480-203A>T (n.480-203A>T) | |
1 | g.229432065T>C | CA345146766 | ACTA1 | c.737A>G (p.Asp246Gly) c.602A>G (p.Asp201Gly) c.480-203A>G (n.480-203A>G) | |
1 | g.229432065T>G | CA345146769 | ACTA1 | c.737A>C (p.Asp246Ala) c.602A>C (p.Asp201Ala) c.480-203A>C (n.480-203A>C) | |
1 | g.229432066C>A | CA345146777 | ACTA1 | c.736G>T (p.Asp246Tyr) c.601G>T (p.Asp201Tyr) c.480-204G>T (n.480-204G>T) | |
1 | g.229432066C>G | CA345146775 | ACTA1 | c.736G>C (p.Asp246His) c.601G>C (p.Asp201His) c.480-204G>C (n.480-204G>C) | |
1 | g.229432066C>T | CA345146772 | ACTA1 | c.736G>A (p.Asp246Asn) c.601G>A (p.Asp201Asn) c.480-204G>A (n.480-204G>A) | |
1 | g.229432067T>A | CA423755041 | ACTA1 | c.735A>T (p.Pro245=) c.600A>T (p.Pro200=) c.480-205A>T (n.480-205A>T) | dbSNP gnomAD v4 |
1 | g.229432067T>C | CA423755046 | ACTA1 | c.735A>G (p.Pro245=) c.600A>G (p.Pro200=) c.480-205A>G (n.480-205A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432067T>G | CA423755043 | ACTA1 | c.735A>C (p.Pro245=) c.600A>C (p.Pro200=) c.480-205A>C (n.480-205A>C) | dbSNP |
1 | g.229432067T= | CA1226125633 | ACTA1 | c.735A= (p.Pro245=) c.600A= (p.Pro200=) c.480-205A= (n.480-205A=) | |
1 | g.229432068G>A | CA1442808 | ACTA1 | c.734C>T (p.Pro245Leu) c.599C>T (p.Pro200Leu) c.480-206C>T (n.480-206C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432068G>C | CA345146780 | ACTA1 | c.734C>G (p.Pro245Arg) c.599C>G (p.Pro200Arg) c.480-206C>G (n.480-206C>G) | |
1 | g.229432068G= | CA1226125634 | ACTA1 | c.734C= (p.Pro245=) c.599C= (p.Pro200=) c.480-206C= (n.480-206C=) | |
1 | g.229432068G>T | CA345146782 | ACTA1 | c.734C>A (p.Pro245Gln) c.599C>A (p.Pro200Gln) c.480-206C>A (n.480-206C>A) | |
1 | g.229432069G>A | CA345146786 | ACTA1 | c.733C>T (p.Pro245Ser) c.598C>T (p.Pro200Ser) c.480-207C>T (n.480-207C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432069G>C | CA345146788 | ACTA1 | c.733C>G (p.Pro245Ala) c.598C>G (p.Pro200Ala) c.480-207C>G (n.480-207C>G) | |
1 | g.229432069G= | CA1226125635 | ACTA1 | c.733C= (p.Pro245=) c.598C= (p.Pro200=) c.480-207C= (n.480-207C=) | |
1 | g.229432069G>T | CA345146790 | ACTA1 | c.733C>A (p.Pro245Thr) c.598C>A (p.Pro200Thr) c.480-207C>A (n.480-207C>A) | |
1 | g.229432070C>A | CA423755053 | ACTA1 | c.732G>T (p.Leu244=) c.597G>T (p.Leu199=) c.480-208G>T (n.480-208G>T) | |
1 | g.229432070C= | CA1226125636 | ACTA1 | c.732G= (p.Leu244=) c.597G= (p.Leu199=) c.480-208G= (n.480-208G=) | |
1 | g.229432070C>G | CA423755052 | ACTA1 | c.732G>C (p.Leu244=) c.597G>C (p.Leu199=) c.480-208G>C (n.480-208G>C) | |
1 | g.229432070C>T | CA423755051 | ACTA1 | c.732G>A (p.Leu244=) c.597G>A (p.Leu199=) c.480-208G>A (n.480-208G>A) | dbSNP |
1 | g.229432071A>C | CA345146794 | ACTA1 | c.731T>G (p.Leu244Arg) c.596T>G (p.Leu199Arg) c.480-209T>G (n.480-209T>G) | |
1 | g.229432071A>G | CA345146797 | ACTA1 | c.731T>C (p.Leu244Pro) c.596T>C (p.Leu199Pro) c.480-209T>C (n.480-209T>C) | |
1 | g.229432071A>T | CA345146799 | ACTA1 | c.731T>A (p.Leu244Gln) c.596T>A (p.Leu199Gln) c.480-209T>A (n.480-209T>A) | |
1 | g.229432072G>A | CA38815633 | ACTA1 | c.730C>T (p.Leu244=) c.595C>T (p.Leu199=) c.480-210C>T (n.480-210C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432072G>C | CA345146802 | ACTA1 | c.730C>G (p.Leu244Val) c.595C>G (p.Leu199Val) c.480-210C>G (n.480-210C>G) | |
1 | g.229432072G= | CA1226125637 | ACTA1 | c.730C= (p.Leu244=) c.595C= (p.Leu199=) c.480-210C= (n.480-210C=) | |
1 | g.229432072G>T | CA345146805 | ACTA1 | c.730C>A (p.Leu244Met) c.595C>A (p.Leu199Met) c.480-210C>A (n.480-210C>A) | |
1 | g.229432073C>A | CA345146808 | ACTA1 | c.729G>T (p.Glu243Asp) c.594G>T (p.Glu198Asp) c.480-211G>T (n.480-211G>T) | |
1 | g.229432073C>G | CA345146810 | ACTA1 | c.729G>C (p.Glu243Asp) c.594G>C (p.Glu198Asp) c.480-211G>C (n.480-211G>C) | |
1 | g.229432073C>T | CA423755061 | ACTA1 | c.729G>A (p.Glu243=) c.594G>A (p.Glu198=) c.480-211G>A (n.480-211G>A) | |
1 | g.229432074T>A | CA345146815 | ACTA1 | c.728A>T (p.Glu243Val) c.593A>T (p.Glu198Val) c.480-212A>T (n.480-212A>T) | |
1 | g.229432074T>C | CA345146817 | ACTA1 | c.728A>G (p.Glu243Gly) c.593A>G (p.Glu198Gly) c.480-212A>G (n.480-212A>G) | |
1 | g.229432074T>G | CA345146814 | ACTA1 | c.728A>C (p.Glu243Ala) c.593A>C (p.Glu198Ala) c.480-212A>C (n.480-212A>C) | |
1 | g.229432075C>A | CA345146819 | ACTA1 | c.727G>T (p.Glu243Ter) c.592G>T (p.Glu198Ter) c.480-213G>T (n.480-213G>T) | |
1 | g.229432075C= | CA1143538616 | ACTA1 | c.727G= (p.Glu243=) c.592G= (p.Glu198=) c.480-213G= (n.480-213G=) | |
1 | g.229432075C>G | CA345146823 | ACTA1 | c.727G>C (p.Glu243Gln) c.592G>C (p.Glu198Gln) c.480-213G>C (n.480-213G>C) | ClinVar |
1 | g.229432075C>T | CA344563 | ACTA1 | c.727G>A (p.Glu243Lys) c.592G>A (p.Glu198Lys) c.480-213G>A (n.480-213G>A) | ClinVar dbSNP |
1 | g.229432076G>A | CA423755069 | ACTA1 | c.726C>T (p.Tyr242=) c.591C>T (p.Tyr197=) c.480-214C>T (n.480-214C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.229432076G>C | CA345146828 | ACTA1 | c.726C>G (p.Tyr242Ter) c.591C>G (p.Tyr197Ter) c.480-214C>G (n.480-214C>G) | dbSNP |
1 | g.229432076G= | CA1226125638 | ACTA1 | c.726C= (p.Tyr242=) c.591C= (p.Tyr197=) c.480-214C= (n.480-214C=) | |
1 | g.229432076G>T | CA345146830 | ACTA1 | c.726C>A (p.Tyr242Ter) c.591C>A (p.Tyr197Ter) c.480-214C>A (n.480-214C>A) | |
1 | g.229432077T>A | CA345146838 | ACTA1 | c.725A>T (p.Tyr242Phe) c.590A>T (p.Tyr197Phe) c.480-215A>T (n.480-215A>T) | |
1 | g.229432077T>C | CA345146833 | ACTA1 | c.725A>G (p.Tyr242Cys) c.590A>G (p.Tyr197Cys) c.480-215A>G (n.480-215A>G) | |
1 | g.229432077T>G | CA345146836 | ACTA1 | c.725A>C (p.Tyr242Ser) c.590A>C (p.Tyr197Ser) c.480-215A>C (n.480-215A>C) | |
1 | g.229432078A>C | CA345146843 | ACTA1 | c.724T>G (p.Tyr242Asp) c.589T>G (p.Tyr197Asp) c.480-216T>G (n.480-216T>G) | |
1 | g.229432078A>G | CA345146846 | ACTA1 | c.724T>C (p.Tyr242His) c.589T>C (p.Tyr197His) c.480-216T>C (n.480-216T>C) | |
1 | g.229432078A>T | CA345146848 | ACTA1 | c.724T>A (p.Tyr242Asn) c.589T>A (p.Tyr197Asn) c.480-216T>A (n.480-216T>A) | |
1 | g.229432079G>A | CA1442809 | ACTA1 | c.723C>T (p.Ser241=) c.588C>T (p.Ser196=) c.480-217C>T (n.480-217C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432079G>C | CA345146853 | ACTA1 | c.723C>G (p.Ser241Arg) c.588C>G (p.Ser196Arg) c.480-217C>G (n.480-217C>G) | |
1 | g.229432079G= | CA1145367119 | ACTA1 | c.723C= (p.Ser241=) c.588C= (p.Ser196=) c.480-217C= (n.480-217C=) | |
1 | g.229432079G>T | CA345146856 | ACTA1 | c.723C>A (p.Ser241Arg) c.588C>A (p.Ser196Arg) c.480-217C>A (n.480-217C>A) | ClinVar gnomAD v4 |
1 | g.229432080C>A | CA345146865 | ACTA1 | c.722G>T (p.Ser241Ile) c.587G>T (p.Ser196Ile) c.480-218G>T (n.480-218G>T) | |
1 | g.229432080C= | CA1149146925 | ACTA1 | c.722G= (p.Ser241=) c.587G= (p.Ser196=) c.480-218G= (n.480-218G=) | |
1 | g.229432080C>G | CA345146863 | ACTA1 | c.722G>C (p.Ser241Thr) c.587G>C (p.Ser196Thr) c.480-218G>C (n.480-218G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432080C>T | CA1442810 | ACTA1 | c.722G>A (p.Ser241Asn) c.587G>A (p.Ser196Asn) c.480-218G>A (n.480-218G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432081T>A | CA345146868 | ACTA1 | c.721A>T (p.Ser241Cys) c.586A>T (p.Ser196Cys) c.480-219A>T (n.480-219A>T) | |
1 | g.229432081T>C | CA345146870 | ACTA1 | c.721A>G (p.Ser241Gly) c.586A>G (p.Ser196Gly) c.480-219A>G (n.480-219A>G) | |
1 | g.229432081T>G | CA345146873 | ACTA1 | c.721A>C (p.Ser241Arg) c.586A>C (p.Ser196Arg) c.480-219A>C (n.480-219A>C) | |
1 | g.229432082C>A | CA345146875 | ACTA1 | c.720G>T (p.Lys240Asn) c.585G>T (p.Lys195Asn) c.480-220G>T (n.480-220G>T) | gnomAD v4 |
1 | g.229432082C= | CA1226125639 | ACTA1 | c.720G= (p.Lys240=) c.585G= (p.Lys195=) c.480-220G= (n.480-220G=) | |
1 | g.229432082C>G | CA345146877 | ACTA1 | c.720G>C (p.Lys240Asn) c.585G>C (p.Lys195Asn) c.480-220G>C (n.480-220G>C) | |
1 | g.229432082C>T | CA1442811 | ACTA1 | c.720G>A (p.Lys240=) c.585G>A (p.Lys195=) c.480-220G>A (n.480-220G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432083T>A | CA345146885 | ACTA1 | c.719A>T (p.Lys240Met) c.584A>T (p.Lys195Met) c.480-221A>T (n.480-221A>T) | |
1 | g.229432083T>C | CA345146880 | ACTA1 | c.719A>G (p.Lys240Arg) c.584A>G (p.Lys195Arg) c.480-221A>G (n.480-221A>G) | |
1 | g.229432083T>G | CA345146883 | ACTA1 | c.719A>C (p.Lys240Thr) c.584A>C (p.Lys195Thr) c.480-221A>C (n.480-221A>C) | |
1 | g.229432084T>A | CA345146888 | ACTA1 | c.718A>T (p.Lys240Ter) c.583A>T (p.Lys195Ter) c.480-222A>T (n.480-222A>T) | |
1 | g.229432084T>C | CA345146891 | ACTA1 | c.718A>G (p.Lys240Glu) c.583A>G (p.Lys195Glu) c.480-222A>G (n.480-222A>G) | |
1 | g.229432084T>G | CA345146894 | ACTA1 | c.718A>C (p.Lys240Gln) c.583A>C (p.Lys195Gln) c.480-222A>C (n.480-222A>C) | |
1 | g.229432085T>A | CA345146897 | ACTA1 | c.717A>T (p.Glu239Asp) c.582A>T (p.Glu194Asp) c.480-223A>T (n.480-223A>T) | |
1 | g.229432085T>C | CA423755094 | ACTA1 | c.717A>G (p.Glu239=) c.582A>G (p.Glu194=) c.480-223A>G (n.480-223A>G) | dbSNP gnomAD v4 |
1 | g.229432085T>G | CA345146900 | ACTA1 | c.717A>C (p.Glu239Asp) c.582A>C (p.Glu194Asp) c.480-223A>C (n.480-223A>C) | |
1 | g.229432085T= | CA1226125640 | ACTA1 | c.717A= (p.Glu239=) c.582A= (p.Glu194=) c.480-223A= (n.480-223A=) | |
1 | g.229432086T>A | CA345146906 | ACTA1 | c.716A>T (p.Glu239Val) c.581A>T (p.Glu194Val) c.480-224A>T (n.480-224A>T) | |
1 | g.229432086T>C | CA345146903 | ACTA1 | c.716A>G (p.Glu239Gly) c.581A>G (p.Glu194Gly) c.480-224A>G (n.480-224A>G) | ClinVar |
1 | g.229432086T>G | CA345146905 | ACTA1 | c.716A>C (p.Glu239Ala) c.581A>C (p.Glu194Ala) c.480-224A>C (n.480-224A>C) | |
1 | g.229432087C>A | CA345146909 | ACTA1 | c.715G>T (p.Glu239Ter) c.580G>T (p.Glu194Ter) c.480-225G>T (n.480-225G>T) | |
1 | g.229432087C= | CA1226125641 | ACTA1 | c.715G= (p.Glu239=) c.580G= (p.Glu194=) c.480-225G= (n.480-225G=) | |
1 | g.229432087C>G | CA345146911 | ACTA1 | c.715G>C (p.Glu239Gln) c.580G>C (p.Glu194Gln) c.480-225G>C (n.480-225G>C) | |
1 | g.229432087C>T | CA10606300 | ACTA1 | c.715G>A (p.Glu239Lys) c.580G>A (p.Glu194Lys) c.480-225G>A (n.480-225G>A) | ClinVar dbSNP |
1 | g.229432088C>A | CA423755098 | ACTA1 | c.714G>T (p.Leu238=) c.579G>T (p.Leu193=) c.480-226G>T (n.480-226G>T) | |
1 | g.229432088C>G | CA423755099 | ACTA1 | c.714G>C (p.Leu238=) c.579G>C (p.Leu193=) c.480-226G>C (n.480-226G>C) | |
1 | g.229432088C>T | CA423755101 | ACTA1 | c.714G>A (p.Leu238=) c.579G>A (p.Leu193=) c.480-226G>A (n.480-226G>A) | gnomAD v4 |
1 | g.229432089A= | CA1226125643 | ACTA1 | c.713T= (p.Leu238=) c.578T= (p.Leu193=) c.480-227T= (n.480-227T=) | |
1 | g.229432089A>C | CA345146915 | ACTA1 | c.713T>G (p.Leu238Arg) c.578T>G (p.Leu193Arg) c.480-227T>G (n.480-227T>G) | |
1 | g.229432089A>G | CA345146916 | ACTA1 | c.713T>C (p.Leu238Pro) c.578T>C (p.Leu193Pro) c.480-227T>C (n.480-227T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.229432089A>T | CA345146919 | ACTA1 | c.713T>A (p.Leu238Gln) c.578T>A (p.Leu193Gln) c.480-227T>A (n.480-227T>A) | |
1 | g.229432089_229432090delinsAG | CA1226125642 | ACTA1 | c.712_713delinsCT (p.Leu238=) c.577_578delinsCT (p.Leu193=) c.480-228_480-227delinsCT (n.480-228_480-227delinsCT) | |
1 | g.229432090G>A | CA423755104 | ACTA1 | c.712C>T (p.Leu238=) c.577C>T (p.Leu193=) c.480-228C>T (n.480-228C>T) | |
1 | g.229432090G>C | CA345146922 | ACTA1 | c.712C>G (p.Leu238Val) c.577C>G (p.Leu193Val) c.480-228C>G (n.480-228C>G) | |
1 | g.229432090G>T | CA345146924 | ACTA1 | c.712C>A (p.Leu238Met) c.577C>A (p.Leu193Met) c.480-228C>A (n.480-228C>A) | |
1 | g.229432092del | CA529915256 | ACTA1 | c.712del (p.Leu238TrpfsTer?) c.577del (p.Leu193TrpfsTer?) c.480-228del (n.480-228del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432090_229432093delinsGGGA | CA1226125644 | ACTA1 | c.709_712delinsTCCC (p.Ser237=) c.574_577delinsTCCC (p.Ser192=) c.480-231_480-228delinsTCCC (n.480-231_480-228delinsTCCC) | |
1 | g.229432091G>A | CA38815693 | ACTA1 | c.711C>T (p.Ser237=) c.576C>T (p.Ser192=) c.480-229C>T (n.480-229C>T) | dbSNP |
1 | g.229432091G>C | CA423755108 | ACTA1 | c.711C>G (p.Ser237=) c.576C>G (p.Ser192=) c.480-229C>G (n.480-229C>G) | |
1 | g.229432091G= | CA1144916092 | ACTA1 | c.711C= (p.Ser237=) c.576C= (p.Ser192=) c.480-229C= (n.480-229C=) | |
1 | g.229432091G>T | CA423755109 | ACTA1 | c.711C>A (p.Ser237=) c.576C>A (p.Ser192=) c.480-229C>A (n.480-229C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432102_229432104dup | CA2574151282 | ACTA1 | c.709_711dup (p.Ser237_Leu238insSer) c.574_576dup (p.Ser192_Leu193insSer) c.480-231_480-229dup (n.480-231_480-229dup) | gnomAD v4 |
1 | g.229432102_229432104del | CA1442812 | ACTA1 | c.709_711del (p.Ser237del) c.574_576del (p.Ser192del) c.480-231_480-229del (n.480-231_480-229del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432096_229432104del | CA2833227285 | ACTA1 | c.703_711del (p.Ser235_Ser237del) c.568_576del (p.Ser190_Ser192del) c.480-237_480-229del (n.480-237_480-229del) | |
1 | g.229432092G>A | CA345146932 | ACTA1 | c.710C>T (p.Ser237Phe) c.575C>T (p.Ser192Phe) c.480-230C>T (n.480-230C>T) | COSMIC |
1 | g.229432092G>C | CA345146933 | ACTA1 | c.710C>G (p.Ser237Cys) c.575C>G (p.Ser192Cys) c.480-230C>G (n.480-230C>G) | |
1 | g.229432092G>T | CA345146934 | ACTA1 | c.710C>A (p.Ser237Tyr) c.575C>A (p.Ser192Tyr) c.480-230C>A (n.480-230C>A) | |
1 | g.229432093A>C | CA345146942 | ACTA1 | c.709T>G (p.Ser237Ala) c.574T>G (p.Ser192Ala) c.480-231T>G (n.480-231T>G) | |
1 | g.229432093A>G | CA345146938 | ACTA1 | c.709T>C (p.Ser237Pro) c.574T>C (p.Ser192Pro) c.480-231T>C (n.480-231T>C) | ClinVar |
1 | g.229432093A>T | CA345146940 | ACTA1 | c.709T>A (p.Ser237Thr) c.574T>A (p.Ser192Thr) c.480-231T>A (n.480-231T>A) | |
1 | g.229432094G>A | CA423755115 | ACTA1 | c.708C>T (p.Ser236=) c.573C>T (p.Ser191=) c.480-232C>T (n.480-232C>T) | dbSNP |
1 | g.229432094G>C | CA423755117 | ACTA1 | c.708C>G (p.Ser236=) c.573C>G (p.Ser191=) c.480-232C>G (n.480-232C>G) | dbSNP |
1 | g.229432094G= | CA1226125645 | ACTA1 | c.708C= (p.Ser236=) c.573C= (p.Ser191=) c.480-232C= (n.480-232C=) | |
1 | g.229432094G>T | CA423755118 | ACTA1 | c.708C>A (p.Ser236=) c.573C>A (p.Ser191=) c.480-232C>A (n.480-232C>A) | |
1 | g.229432095G>A | CA345146944 | ACTA1 | c.707C>T (p.Ser236Phe) c.572C>T (p.Ser191Phe) c.480-233C>T (n.480-233C>T) | gnomAD v4 |
1 | g.229432095G>C | CA345146946 | ACTA1 | c.707C>G (p.Ser236Cys) c.572C>G (p.Ser191Cys) c.480-233C>G (n.480-233C>G) | |
1 | g.229432095G>T | CA345146948 | ACTA1 | c.707C>A (p.Ser236Tyr) c.572C>A (p.Ser191Tyr) c.480-233C>A (n.480-233C>A) | COSMIC |
1 | g.229432096A>C | CA345146951 | ACTA1 | c.706T>G (p.Ser236Ala) c.571T>G (p.Ser191Ala) c.480-234T>G (n.480-234T>G) | |
1 | g.229432096A>G | CA345146953 | ACTA1 | c.706T>C (p.Ser236Pro) c.571T>C (p.Ser191Pro) c.480-234T>C (n.480-234T>C) | |
1 | g.229432096A>T | CA345146957 | ACTA1 | c.706T>A (p.Ser236Thr) c.571T>A (p.Ser191Thr) c.480-234T>A (n.480-234T>A) | |
1 | g.229432097G>A | CA423755122 | ACTA1 | c.705C>T (p.Ser235=) c.570C>T (p.Ser190=) c.480-235C>T (n.480-235C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432097G>C | CA423755123 | ACTA1 | c.705C>G (p.Ser235=) c.570C>G (p.Ser190=) c.480-235C>G (n.480-235C>G) | |
1 | g.229432097G= | CA1226125646 | ACTA1 | c.705C= (p.Ser235=) c.570C= (p.Ser190=) c.480-235C= (n.480-235C=) | |
1 | g.229432097G>T | CA423755125 | ACTA1 | c.705C>A (p.Ser235=) c.570C>A (p.Ser190=) c.480-235C>A (n.480-235C>A) | |
1 | g.229432098G>A | CA345146960 | ACTA1 | c.704C>T (p.Ser235Phe) c.569C>T (p.Ser190Phe) c.480-236C>T (n.480-236C>T) | |
1 | g.229432098G>C | CA345146963 | ACTA1 | c.704C>G (p.Ser235Cys) c.569C>G (p.Ser190Cys) c.480-236C>G (n.480-236C>G) | |
1 | g.229432098G>T | CA345146965 | ACTA1 | c.704C>A (p.Ser235Tyr) c.569C>A (p.Ser190Tyr) c.480-236C>A (n.480-236C>A) | ClinVar dbSNP COSMIC |
1 | g.229432099A>C | CA345146969 | ACTA1 | c.703T>G (p.Ser235Ala) c.568T>G (p.Ser190Ala) c.480-237T>G (n.480-237T>G) | |
1 | g.229432099A>G | CA345146971 | ACTA1 | c.703T>C (p.Ser235Pro) c.568T>C (p.Ser190Pro) c.480-237T>C (n.480-237T>C) | |
1 | g.229432099A>T | CA345146973 | ACTA1 | c.703T>A (p.Ser235Thr) c.568T>A (p.Ser190Thr) c.480-237T>A (n.480-237T>A) | |
1 | g.229432100G>A | CA423755133 | ACTA1 | c.702C>T (p.Ser234=) c.567C>T (p.Ser189=) c.480-238C>T (n.480-238C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432100G>C | CA423755134 | ACTA1 | c.702C>G (p.Ser234=) c.567C>G (p.Ser189=) c.480-238C>G (n.480-238C>G) | |
1 | g.229432100G= | CA1226125647 | ACTA1 | c.702C= (p.Ser234=) c.567C= (p.Ser189=) c.480-238C= (n.480-238C=) | |
1 | g.229432100G>T | CA423755135 | ACTA1 | c.702C>A (p.Ser234=) c.567C>A (p.Ser189=) c.480-238C>A (n.480-238C>A) | |
1 | g.229432101G>A | CA345146982 | ACTA1 | c.701C>T (p.Ser234Phe) c.566C>T (p.Ser189Phe) c.480-239C>T (n.480-239C>T) | |
1 | g.229432101G>C | CA345146980 | ACTA1 | c.701C>G (p.Ser234Cys) c.566C>G (p.Ser189Cys) c.480-239C>G (n.480-239C>G) | dbSNP |
1 | g.229432101G= | CA1226125648 | ACTA1 | c.701C= (p.Ser234=) c.566C= (p.Ser189=) c.480-239C= (n.480-239C=) | |
1 | g.229432101G>T | CA345146978 | ACTA1 | c.701C>A (p.Ser234Tyr) c.566C>A (p.Ser189Tyr) c.480-239C>A (n.480-239C>A) | |
1 | g.229432102A>C | CA345146984 | ACTA1 | c.700T>G (p.Ser234Ala) c.565T>G (p.Ser189Ala) c.480-240T>G (n.480-240T>G) | |
1 | g.229432102A>G | CA345146986 | ACTA1 | c.700T>C (p.Ser234Pro) c.565T>C (p.Ser189Pro) c.480-240T>C (n.480-240T>C) | |
1 | g.229432102A>T | CA345146989 | ACTA1 | c.700T>A (p.Ser234Thr) c.565T>A (p.Ser189Thr) c.480-240T>A (n.480-240T>A) | |
1 | g.229432103G>A | CA38815704 | ACTA1 | c.699C>T (p.Ala233=) c.564C>T (p.Ala188=) c.480-241C>T (n.480-241C>T) | dbSNP |
1 | g.229432103G>C | CA423755140 | ACTA1 | c.699C>G (p.Ala233=) c.564C>G (p.Ala188=) c.480-241C>G (n.480-241C>G) | |
1 | g.229432103G= | CA1146411056 | ACTA1 | c.699C= (p.Ala233=) c.564C= (p.Ala188=) c.480-241C= (n.480-241C=) | |
1 | g.229432103G>T | CA423755142 | ACTA1 | c.699C>A (p.Ala233=) c.564C>A (p.Ala188=) c.480-241C>A (n.480-241C>A) | |
1 | g.229432104G>A | CA345146994 | ACTA1 | c.698C>T (p.Ala233Val) c.563C>T (p.Ala188Val) c.480-242C>T (n.480-242C>T) | |
1 | g.229432104G>C | CA345146996 | ACTA1 | c.698C>G (p.Ala233Gly) c.563C>G (p.Ala188Gly) c.480-242C>G (n.480-242C>G) | |
1 | g.229432104G>T | CA345146997 | ACTA1 | c.698C>A (p.Ala233Asp) c.563C>A (p.Ala188Asp) c.480-242C>A (n.480-242C>A) | |
1 | g.229432104_229432105delinsTT | CA2573132017 | ACTA1 | c.697_698delinsAA (p.Ala233Asn) c.562_563delinsAA (p.Ala188Asn) c.480-243_480-242delinsAA (n.480-243_480-242delinsAA) | ClinVar dbSNP |
1 | g.229432105C>A | CA345147001 | ACTA1 | c.697G>T (p.Ala233Ser) c.562G>T (p.Ala188Ser) c.480-243G>T (n.480-243G>T) | COSMIC |
1 | g.229432105C>G | CA345147003 | ACTA1 | c.697G>C (p.Ala233Pro) c.562G>C (p.Ala188Pro) c.480-243G>C (n.480-243G>C) | |
1 | g.229432105C>T | CA345147005 | ACTA1 | c.697G>A (p.Ala233Thr) c.562G>A (p.Ala188Thr) c.480-243G>A (n.480-243G>A) | |
1 | g.229432106G>A | CA423755147 | ACTA1 | c.696C>T (p.Ala232=) c.561C>T (p.Ala187=) c.480-244C>T (n.480-244C>T) | dbSNP gnomAD v4 |
1 | g.229432106G>C | CA423755148 | ACTA1 | c.696C>G (p.Ala232=) c.561C>G (p.Ala187=) c.480-244C>G (n.480-244C>G) | |
1 | g.229432106G= | CA1226125649 | ACTA1 | c.696C= (p.Ala232=) c.561C= (p.Ala187=) c.480-244C= (n.480-244C=) | |
1 | g.229432106G>T | CA423755149 | ACTA1 | c.696C>A (p.Ala232=) c.561C>A (p.Ala187=) c.480-244C>A (n.480-244C>A) | |
1 | g.229432107G>A | CA345147006 | ACTA1 | c.695C>T (p.Ala232Val) c.560C>T (p.Ala187Val) c.480-245C>T (n.480-245C>T) | gnomAD v4 COSMIC |
1 | g.229432107G>C | CA345147007 | ACTA1 | c.695C>G (p.Ala232Gly) c.560C>G (p.Ala187Gly) c.480-245C>G (n.480-245C>G) | |
1 | g.229432107G>T | CA345147008 | ACTA1 | c.695C>A (p.Ala232Asp) c.560C>A (p.Ala187Asp) c.480-245C>A (n.480-245C>A) | |
1 | g.229432108C>A | CA345147014 | ACTA1 | c.694G>T (p.Ala232Ser) c.559G>T (p.Ala187Ser) c.480-246G>T (n.480-246G>T) | |
1 | g.229432108C>G | CA345147012 | ACTA1 | c.694G>C (p.Ala232Pro) c.559G>C (p.Ala187Pro) c.480-246G>C (n.480-246G>C) | |
1 | g.229432108C>T | CA345147011 | ACTA1 | c.694G>A (p.Ala232Thr) c.559G>A (p.Ala187Thr) c.480-246G>A (n.480-246G>A) | |
1 | g.229432109C>A | CA423755152 | ACTA1 | c.693G>T (p.Thr231=) c.558G>T (p.Thr186=) c.480-247G>T (n.480-247G>T) | gnomAD v4 |
1 | g.229432109C= | CA1226125650 | ACTA1 | c.693G= (p.Thr231=) c.558G= (p.Thr186=) c.480-247G= (n.480-247G=) | |
1 | g.229432109C>G | CA423755154 | ACTA1 | c.693G>C (p.Thr231=) c.558G>C (p.Thr186=) c.480-247G>C (n.480-247G>C) | dbSNP gnomAD v4 |
1 | g.229432109C>T | CA423755155 | ACTA1 | c.693G>A (p.Thr231=) c.558G>A (p.Thr186=) c.480-247G>A (n.480-247G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.229432110G>A | CA345147017 | ACTA1 | c.692C>T (p.Thr231Met) c.557C>T (p.Thr186Met) c.480-248C>T (n.480-248C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432110G>C | CA345147021 | ACTA1 | c.692C>G (p.Thr231Arg) c.557C>G (p.Thr186Arg) c.480-248C>G (n.480-248C>G) | |
1 | g.229432110G= | CA1226125651 | ACTA1 | c.692C= (p.Thr231=) c.557C= (p.Thr186=) c.480-248C= (n.480-248C=) | |
1 | g.229432110G>T | CA345147019 | ACTA1 | c.692C>A (p.Thr231Lys) c.557C>A (p.Thr186Lys) c.480-248C>A (n.480-248C>A) | |
1 | g.229432111T>A | CA345147025 | ACTA1 | c.691A>T (p.Thr231Ser) c.556A>T (p.Thr186Ser) c.480-249A>T (n.480-249A>T) | |
1 | g.229432111T>C | CA345147030 | ACTA1 | c.691A>G (p.Thr231Ala) c.556A>G (p.Thr186Ala) c.480-249A>G (n.480-249A>G) | |
1 | g.229432111T>G | CA345147028 | ACTA1 | c.691A>C (p.Thr231Pro) c.556A>C (p.Thr186Pro) c.480-249A>C (n.480-249A>C) | |
1 | g.229432112C>A | CA423755158 | ACTA1 | c.690G>T (p.Ala230=) c.555G>T (p.Ala185=) c.480-250G>T (n.480-250G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432112C= | CA1147454841 | ACTA1 | c.690G= (p.Ala230=) c.555G= (p.Ala185=) c.480-250G= (n.480-250G=) | |
1 | g.229432112C>G | CA1442814 | ACTA1 | c.690G>C (p.Ala230=) c.555G>C (p.Ala185=) c.480-250G>C (n.480-250G>C) | dbSNP ExAC gnomAD v4 |
1 | g.229432112C>T | CA1442813 | ACTA1 | c.690G>A (p.Ala230=) c.555G>A (p.Ala185=) c.480-250G>A (n.480-250G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.229432113G>A | CA345147036 | ACTA1 | c.689C>T (p.Ala230Val) c.554C>T (p.Ala185Val) c.480-251C>T (n.480-251C>T) | gnomAD v4 |
1 | g.229432113G>C | CA345147039 | ACTA1 | c.689C>G (p.Ala230Gly) c.554C>G (p.Ala185Gly) c.480-251C>G (n.480-251C>G) | |
1 | g.229432113G>T | CA345147041 | ACTA1 | c.689C>A (p.Ala230Glu) c.554C>A (p.Ala185Glu) c.480-251C>A (n.480-251C>A) | |
1 | g.229432114C>A | CA345147045 | ACTA1 | c.688G>T (p.Ala230Ser) c.553G>T (p.Ala185Ser) c.480-252G>T (n.480-252G>T) | |
1 | g.229432114C>G | CA345147047 | ACTA1 | c.688G>C (p.Ala230Pro) c.553G>C (p.Ala185Pro) c.480-252G>C (n.480-252G>C) | |
1 | g.229432114C>T | CA345147050 | ACTA1 | c.688G>A (p.Ala230Thr) c.553G>A (p.Ala185Thr) c.480-252G>A (n.480-252G>A) | |
1 | g.229432115C>A | CA345147052 | ACTA1 | c.687G>T (p.Met229Ile) c.552G>T (p.Met184Ile) c.480-253G>T (n.480-253G>T) | |
1 | g.229432115C>G | CA345147055 | ACTA1 | c.687G>C (p.Met229Ile) c.552G>C (p.Met184Ile) c.480-253G>C (n.480-253G>C) | |
1 | g.229432115C>T | CA345147057 | ACTA1 | c.687G>A (p.Met229Ile) c.552G>A (p.Met184Ile) c.480-253G>A (n.480-253G>A) | |
1 | g.229432116A>C | CA345147066 | ACTA1 | c.686T>G (p.Met229Arg) c.551T>G (p.Met184Arg) c.480-254T>G (n.480-254T>G) | |
1 | g.229432116A>G | CA345147061 | ACTA1 | c.686T>C (p.Met229Thr) c.551T>C (p.Met184Thr) c.480-254T>C (n.480-254T>C) | ClinVar |
1 | g.229432116A>T | CA345147063 | ACTA1 | c.686T>A (p.Met229Lys) c.551T>A (p.Met184Lys) c.480-254T>A (n.480-254T>A) | |
1 | g.229432117T>A | CA345147069 | ACTA1 | c.685A>T (p.Met229Leu) c.550A>T (p.Met184Leu) c.480-255A>T (n.480-255A>T) | ClinVar dbSNP |
1 | g.229432117T>C | CA246018 | ACTA1 | c.685A>G (p.Met229Val) c.550A>G (p.Met184Val) c.480-255A>G (n.480-255A>G) | ClinVar dbSNP |
1 | g.229432117T>G | CA345147074 | ACTA1 | c.685A>C (p.Met229Leu) c.550A>C (p.Met184Leu) c.480-255A>C (n.480-255A>C) | |
1 | g.229432117T= | CA1226125652 | ACTA1 | c.685A= (p.Met229=) c.550A= (p.Met184=) c.480-255A= (n.480-255A=) | |
1 | g.229432118C>A | CA345147077 | ACTA1 | c.684G>T (p.Glu228Asp) c.549G>T (p.Glu183Asp) c.480-256G>T (n.480-256G>T) | |
1 | g.229432118C= | CA1226125653 | ACTA1 | c.684G= (p.Glu228=) c.549G= (p.Glu183=) c.480-256G= (n.480-256G=) | |
1 | g.229432118C>G | CA345147079 | ACTA1 | c.684G>C (p.Glu228Asp) c.549G>C (p.Glu183Asp) c.480-256G>C (n.480-256G>C) | |
1 | g.229432118C>T | CA423755162 | ACTA1 | c.684G>A (p.Glu228=) c.549G>A (p.Glu183=) c.480-256G>A (n.480-256G>A) | dbSNP |
1 | g.229432119T>A | CA345147082 | ACTA1 | c.683A>T (p.Glu228Val) c.548A>T (p.Glu183Val) c.480-257A>T (n.480-257A>T) | |
1 | g.229432119T>C | CA345147085 | ACTA1 | c.683A>G (p.Glu228Gly) c.548A>G (p.Glu183Gly) c.480-257A>G (n.480-257A>G) | |
1 | g.229432119T>G | CA345147087 | ACTA1 | c.683A>C (p.Glu228Ala) c.548A>C (p.Glu183Ala) c.480-257A>C (n.480-257A>C) | |
1 | g.229432120C>A | CA345147089 | ACTA1 | c.682G>T (p.Glu228Ter) c.547G>T (p.Glu183Ter) c.480-258G>T (n.480-258G>T) | ClinVar dbSNP gnomAD v4 |
1 | g.229432120C= | CA1226125654 | ACTA1 | c.682G= (p.Glu228=) c.547G= (p.Glu183=) c.480-258G= (n.480-258G=) | |
1 | g.229432120C>G | CA345147092 | ACTA1 | c.682G>C (p.Glu228Gln) c.547G>C (p.Glu183Gln) c.480-258G>C (n.480-258G>C) | ClinVar dbSNP |
1 | g.229432120C>T | CA345147095 | ACTA1 | c.682G>A (p.Glu228Lys) c.547G>A (p.Glu183Lys) c.480-258G>A (n.480-258G>A) | gnomAD v4 |
1 | g.229432121G>A | CA423755170 | ACTA1 | c.681C>T (p.Asn227=) c.546C>T (p.Asn182=) c.480-259C>T (n.480-259C>T) | dbSNP COSMIC |
1 | g.229432121G>C | CA345147098 | ACTA1 | c.681C>G (p.Asn227Lys) c.546C>G (p.Asn182Lys) c.480-259C>G (n.480-259C>G) | |
1 | g.229432121G= | CA1226125655 | ACTA1 | c.681C= (p.Asn227=) c.546C= (p.Asn182=) c.480-259C= (n.480-259C=) | |
1 | g.229432121G>T | CA345147100 | ACTA1 | c.681C>A (p.Asn227Lys) c.546C>A (p.Asn182Lys) c.480-259C>A (n.480-259C>A) | |
1 | g.229432122T>A | CA345147103 | ACTA1 | c.680A>T (p.Asn227Ile) c.545A>T (p.Asn182Ile) c.480-260A>T (n.480-260A>T) | |
1 | g.229432122T>C | CA345147106 | ACTA1 | c.680A>G (p.Asn227Ser) c.545A>G (p.Asn182Ser) c.480-260A>G (n.480-260A>G) | |
1 | g.229432122T>G | CA345147109 | ACTA1 | c.680A>C (p.Asn227Thr) c.545A>C (p.Asn182Thr) c.480-260A>C (n.480-260A>C) |