Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
1 | g.229432123T>A | CA345147112 | ACTA1 | c.679A>T (p.Asn227Tyr) c.544A>T (p.Asn182Tyr) c.480-261A>T (n.480-261A>T) | |
1 | g.229432123T>C | CA345147114 | ACTA1 | c.679A>G (p.Asn227Asp) c.544A>G (p.Asn182Asp) c.480-261A>G (n.480-261A>G) | |
1 | g.229432123T>G | CA345147116 | ACTA1 | c.679A>C (p.Asn227His) c.544A>C (p.Asn182His) c.480-261A>C (n.480-261A>C) | |
1 | g.229432124C>A | CA345147119 | ACTA1 | c.678G>T (p.Glu226Asp) c.543G>T (p.Glu181Asp) c.480-262G>T (n.480-262G>T) | |
1 | g.229432124C>G | CA345147122 | ACTA1 | c.678G>C (p.Glu226Asp) c.543G>C (p.Glu181Asp) c.480-262G>C (n.480-262G>C) | |
1 | g.229432124C>T | CA423755177 | ACTA1 | c.678G>A (p.Glu226=) c.543G>A (p.Glu181=) c.480-262G>A (n.480-262G>A) | |
1 | g.229432125T>A | CA345147124 | ACTA1 | c.677A>T (p.Glu226Val) c.542A>T (p.Glu181Val) c.480-263A>T (n.480-263A>T) | |
1 | g.229432125T>C | CA345147125 | ACTA1 | c.677A>G (p.Glu226Gly) c.542A>G (p.Glu181Gly) c.480-263A>G (n.480-263A>G) | |
1 | g.229432125T>G | CA345147128 | ACTA1 | c.677A>C (p.Glu226Ala) c.542A>C (p.Glu181Ala) c.480-263A>C (n.480-263A>C) | |
1 | g.229432126C>A | CA345147133 | ACTA1 | c.676G>T (p.Glu226Ter) c.541G>T (p.Glu181Ter) c.480-264G>T (n.480-264G>T) | |
1 | g.229432126C= | CA1226125656 | ACTA1 | c.676G= (p.Glu226=) c.541G= (p.Glu181=) c.480-264G= (n.480-264G=) | |
1 | g.229432126C>G | CA16603575 | ACTA1 | c.676G>C (p.Glu226Gln) c.541G>C (p.Glu181Gln) c.480-264G>C (n.480-264G>C) | ClinVar dbSNP |
1 | g.229432126C>T | CA345147129 | ACTA1 | c.676G>A (p.Glu226Lys) c.541G>A (p.Glu181Lys) c.480-264G>A (n.480-264G>A) | ClinVar dbSNP |
1 | g.229432127G>A | CA423755187 | ACTA1 | c.675C>T (p.Phe225=) c.540C>T (p.Phe180=) c.480-265C>T (n.480-265C>T) | dbSNP gnomAD v4 |
1 | g.229432127G>C | CA345147136 | ACTA1 | c.675C>G (p.Phe225Leu) c.540C>G (p.Phe180Leu) c.480-265C>G (n.480-265C>G) | |
1 | g.229432127G= | CA1226125657 | ACTA1 | c.675C= (p.Phe225=) c.540C= (p.Phe180=) c.480-265C= (n.480-265C=) | |
1 | g.229432127G>T | CA345147138 | ACTA1 | c.675C>A (p.Phe225Leu) c.540C>A (p.Phe180Leu) c.480-265C>A (n.480-265C>A) | gnomAD v4 |
1 | g.229432128A>C | CA345147140 | ACTA1 | c.674T>G (p.Phe225Cys) c.539T>G (p.Phe180Cys) c.480-266T>G (n.480-266T>G) | |
1 | g.229432128A>G | CA345147142 | ACTA1 | c.674T>C (p.Phe225Ser) c.539T>C (p.Phe180Ser) c.480-266T>C (n.480-266T>C) | |
1 | g.229432128A>T | CA345147143 | ACTA1 | c.674T>A (p.Phe225Tyr) c.539T>A (p.Phe180Tyr) c.480-266T>A (n.480-266T>A) | |
1 | g.229432129A>C | CA345147144 | ACTA1 | c.673T>G (p.Phe225Val) c.538T>G (p.Phe180Val) c.480-267T>G (n.480-267T>G) | |
1 | g.229432129A>G | CA345147146 | ACTA1 | c.673T>C (p.Phe225Leu) c.538T>C (p.Phe180Leu) c.480-267T>C (n.480-267T>C) | |
1 | g.229432129A>T | CA345147148 | ACTA1 | c.673T>A (p.Phe225Ile) c.538T>A (p.Phe180Ile) c.480-267T>A (n.480-267T>A) | |
1 | g.229432130G>A | CA423755189 | ACTA1 | c.672C>T (p.Asp224=) c.537C>T (p.Asp179=) c.480-268C>T (n.480-268C>T) | |
1 | g.229432130G>C | CA345147149 | ACTA1 | c.672C>G (p.Asp224Glu) c.537C>G (p.Asp179Glu) c.480-268C>G (n.480-268C>G) | |
1 | g.229432130G>T | CA345147151 | ACTA1 | c.672C>A (p.Asp224Glu) c.537C>A (p.Asp179Glu) c.480-268C>A (n.480-268C>A) | |
1 | g.229432131T>A | CA345147153 | ACTA1 | c.671A>T (p.Asp224Val) c.536A>T (p.Asp179Val) c.480-269A>T (n.480-269A>T) | |
1 | g.229432131T>C | CA345147155 | ACTA1 | c.671A>G (p.Asp224Gly) c.536A>G (p.Asp179Gly) c.480-269A>G (n.480-269A>G) | |
1 | g.229432131T>G | CA345147156 | ACTA1 | c.671A>C (p.Asp224Ala) c.536A>C (p.Asp179Ala) c.480-269A>C (n.480-269A>C) | |
1 | g.229432132C>A | CA345147164 | ACTA1 | c.670G>T (p.Asp224Tyr) c.535G>T (p.Asp179Tyr) c.480-270G>T (n.480-270G>T) | |
1 | g.229432132C>G | CA345147161 | ACTA1 | c.670G>C (p.Asp224His) c.535G>C (p.Asp179His) c.480-270G>C (n.480-270G>C) | |
1 | g.229432132C>T | CA345147159 | ACTA1 | c.670G>A (p.Asp224Asn) c.535G>A (p.Asp179Asn) c.480-270G>A (n.480-270G>A) | |
1 | g.229432133C>A | CA423755198 | ACTA1 | c.669G>T (p.Leu223=) c.534G>T (p.Leu178=) c.480-271G>T (n.480-271G>T) | |
1 | g.229432133C>G | CA423755197 | ACTA1 | c.669G>C (p.Leu223=) c.534G>C (p.Leu178=) c.480-271G>C (n.480-271G>C) | |
1 | g.229432133C>T | CA423755196 | ACTA1 | c.669G>A (p.Leu223=) c.534G>A (p.Leu178=) c.480-271G>A (n.480-271G>A) | gnomAD v4 |
1 | g.229432134A= | CA1141581376 | ACTA1 | c.668T= (p.Leu223=) c.533T= (p.Leu178=) c.480-272T= (n.480-272T=) | |
1 | g.229432134A>C | CA345147170 | ACTA1 | c.668T>G (p.Leu223Arg) c.533T>G (p.Leu178Arg) c.480-272T>G (n.480-272T>G) | |
1 | g.229432134A>G | CA341497 | ACTA1 | c.668T>C (p.Leu223Pro) c.533T>C (p.Leu178Pro) c.480-272T>C (n.480-272T>C) | ClinVar dbSNP |
1 | g.229432134A>T | CA345147168 | ACTA1 | c.668T>A (p.Leu223Gln) c.533T>A (p.Leu178Gln) c.480-272T>A (n.480-272T>A) | |
1 | g.229432135G>A | CA423755201 | ACTA1 | c.667C>T (p.Leu223=) c.532C>T (p.Leu178=) c.480-273C>T (n.480-273C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432135G>C | CA345147172 | ACTA1 | c.667C>G (p.Leu223Val) c.532C>G (p.Leu178Val) c.480-273C>G (n.480-273C>G) | |
1 | g.229432135G= | CA1226125658 | ACTA1 | c.667C= (p.Leu223=) c.532C= (p.Leu178=) c.480-273C= (n.480-273C=) | |
1 | g.229432135G>T | CA345147174 | ACTA1 | c.667C>A (p.Leu223Met) c.532C>A (p.Leu178Met) c.480-273C>A (n.480-273C>A) | |
1 | g.229432136G>A | CA423755202 | ACTA1 | c.666C>T (p.Ala222=) c.531C>T (p.Ala177=) c.479+271C>T (n.479+271C>T) | gnomAD v4 |
1 | g.229432136G>C | CA423755204 | ACTA1 | c.666C>G (p.Ala222=) c.531C>G (p.Ala177=) c.479+271C>G (n.479+271C>G) | |
1 | g.229432136G>T | CA423755205 | ACTA1 | c.666C>A (p.Ala222=) c.531C>A (p.Ala177=) c.479+271C>A (n.479+271C>A) | |
1 | g.229432137G>A | CA345147178 | ACTA1 | c.665C>T (p.Ala222Val) c.530C>T (p.Ala177Val) c.479+270C>T (n.479+270C>T) | COSMIC |
1 | g.229432137G>C | CA345147180 | ACTA1 | c.665C>G (p.Ala222Gly) c.530C>G (p.Ala177Gly) c.479+270C>G (n.479+270C>G) | |
1 | g.229432137G>T | CA345147182 | ACTA1 | c.665C>A (p.Ala222Asp) c.530C>A (p.Ala177Asp) c.479+270C>A (n.479+270C>A) | |
1 | g.229432138C>A | CA345147184 | ACTA1 | c.664G>T (p.Ala222Ser) c.529G>T (p.Ala177Ser) c.479+269G>T (n.479+269G>T) | |
1 | g.229432138C>G | CA345147186 | ACTA1 | c.664G>C (p.Ala222Pro) c.529G>C (p.Ala177Pro) c.479+269G>C (n.479+269G>C) | |
1 | g.229432138C>T | CA345147187 | ACTA1 | c.664G>A (p.Ala222Thr) c.529G>A (p.Ala177Thr) c.479+269G>A (n.479+269G>A) | |
1 | g.229432139C>A | CA423755208 | ACTA1 | c.663G>T (p.Val221=) c.528G>T (p.Val176=) c.479+268G>T (n.479+268G>T) | |
1 | g.229432139C>G | CA423755209 | ACTA1 | c.663G>C (p.Val221=) c.528G>C (p.Val176=) c.479+268G>C (n.479+268G>C) | |
1 | g.229432139C>T | CA423755210 | ACTA1 | c.663G>A (p.Val221=) c.528G>A (p.Val176=) c.479+268G>A (n.479+268G>A) | |
1 | g.229432140A>C | CA345147189 | ACTA1 | c.662T>G (p.Val221Gly) c.527T>G (p.Val176Gly) c.479+267T>G (n.479+267T>G) | |
1 | g.229432140A>G | CA345147191 | ACTA1 | c.662T>C (p.Val221Ala) c.527T>C (p.Val176Ala) c.479+267T>C (n.479+267T>C) | |
1 | g.229432140A>T | CA345147193 | ACTA1 | c.662T>A (p.Val221Glu) c.527T>A (p.Val176Glu) c.479+267T>A (n.479+267T>A) | |
1 | g.229432141C>A | CA345147197 | ACTA1 | c.661G>T (p.Val221Leu) c.526G>T (p.Val176Leu) c.479+266G>T (n.479+266G>T) | ClinVar |
1 | g.229432141C= | CA1226125659 | ACTA1 | c.661G= (p.Val221=) c.526G= (p.Val176=) c.479+266G= (n.479+266G=) | |
1 | g.229432141C>G | CA345147195 | ACTA1 | c.661G>C (p.Val221Leu) c.526G>C (p.Val176Leu) c.479+266G>C (n.479+266G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432141C>T | CA345147194 | ACTA1 | c.661G>A (p.Val221Met) c.526G>A (p.Val176Met) c.479+266G>A (n.479+266G>A) | COSMIC |
1 | g.229432142G>A | CA1442815 | ACTA1 | c.660C>T (p.Tyr220=) c.525C>T (p.Tyr175=) c.479+265C>T (n.479+265C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432142G>C | CA345147203 | ACTA1 | c.660C>G (p.Tyr220Ter) c.525C>G (p.Tyr175Ter) c.479+265C>G (n.479+265C>G) | |
1 | g.229432142G= | CA1143507940 | ACTA1 | c.660C= (p.Tyr220=) c.525C= (p.Tyr175=) c.479+265C= (n.479+265C=) | |
1 | g.229432142G>T | CA1442816 | ACTA1 | c.660C>A (p.Tyr220Ter) c.525C>A (p.Tyr175Ter) c.479+265C>A (n.479+265C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432142_229432143del | CA645538676 | ACTA1 | c.659_660del (p.Tyr220CysfsTer?) c.524_525del (p.Tyr175CysfsTer?) c.479+264_479+265del (n.479+264_479+265del) | COSMIC |
1 | g.229432143T>A | CA345147207 | ACTA1 | c.659A>T (p.Tyr220Phe) c.524A>T (p.Tyr175Phe) c.479+264A>T (n.479+264A>T) | ClinVar dbSNP |
1 | g.229432143T>C | CA345147209 | ACTA1 | c.659A>G (p.Tyr220Cys) c.524A>G (p.Tyr175Cys) c.479+264A>G (n.479+264A>G) | |
1 | g.229432143T>G | CA345147211 | ACTA1 | c.659A>C (p.Tyr220Ser) c.524A>C (p.Tyr175Ser) c.479+264A>C (n.479+264A>C) | |
1 | g.229432143T= | CA1226125660 | ACTA1 | c.659A= (p.Tyr220=) c.524A= (p.Tyr175=) c.479+264A= (n.479+264A=) | |
1 | g.229432144A>C | CA345147214 | ACTA1 | c.658T>G (p.Tyr220Asp) c.523T>G (p.Tyr175Asp) c.479+263T>G (n.479+263T>G) | |
1 | g.229432144A>G | CA345147216 | ACTA1 | c.658T>C (p.Tyr220His) c.523T>C (p.Tyr175His) c.479+263T>C (n.479+263T>C) | |
1 | g.229432144A>T | CA345147217 | ACTA1 | c.658T>A (p.Tyr220Asn) c.523T>A (p.Tyr175Asn) c.479+263T>A (n.479+263T>A) | |
1 | g.229432145G>A | CA423755225 | ACTA1 | c.657C>T (p.Cys219=) c.522C>T (p.Cys174=) c.479+262C>T (n.479+262C>T) | |
1 | g.229432145G>C | CA345147219 | ACTA1 | c.657C>G (p.Cys219Trp) c.522C>G (p.Cys174Trp) c.479+262C>G (n.479+262C>G) | |
1 | g.229432145G>T | CA345147221 | ACTA1 | c.657C>A (p.Cys219Ter) c.522C>A (p.Cys174Ter) c.479+262C>A (n.479+262C>A) | |
1 | g.229432146C>A | CA345147224 | ACTA1 | c.656G>T (p.Cys219Phe) c.521G>T (p.Cys174Phe) c.479+261G>T (n.479+261G>T) | gnomAD v4 |
1 | g.229432146C>G | CA345147226 | ACTA1 | c.656G>C (p.Cys219Ser) c.521G>C (p.Cys174Ser) c.479+261G>C (n.479+261G>C) | |
1 | g.229432146C>T | CA345147228 | ACTA1 | c.656G>A (p.Cys219Tyr) c.521G>A (p.Cys174Tyr) c.479+261G>A (n.479+261G>A) | COSMIC |
1 | g.229432148_229432149del | CA645538677 | ACTA1 | c.655_656del (p.Cys219LeufsTer?) c.520_521del (p.Cys174LeufsTer?) c.479+260_479+261del (n.479+260_479+261del) | COSMIC |
1 | g.229432147A>C | CA345147236 | ACTA1 | c.655T>G (p.Cys219Gly) c.520T>G (p.Cys174Gly) c.479+260T>G (n.479+260T>G) | |
1 | g.229432147A>G | CA345147238 | ACTA1 | c.655T>C (p.Cys219Arg) c.520T>C (p.Cys174Arg) c.479+260T>C (n.479+260T>C) | |
1 | g.229432147A>T | CA345147232 | ACTA1 | c.655T>A (p.Cys219Ser) c.520T>A (p.Cys174Ser) c.479+260T>A (n.479+260T>A) | |
1 | g.229432148C>A | CA423755231 | ACTA1 | c.654G>T (p.Leu218=) c.519G>T (p.Leu173=) c.479+259G>T (n.479+259G>T) | |
1 | g.229432148C= | CA1226125661 | ACTA1 | c.654G= (p.Leu218=) c.519G= (p.Leu173=) c.479+259G= (n.479+259G=) | |
1 | g.229432148C>G | CA423755228 | ACTA1 | c.654G>C (p.Leu218=) c.519G>C (p.Leu173=) c.479+259G>C (n.479+259G>C) | dbSNP gnomAD v2 |
1 | g.229432148C>T | CA423755230 | ACTA1 | c.654G>A (p.Leu218=) c.519G>A (p.Leu173=) c.479+259G>A (n.479+259G>A) | dbSNP |
1 | g.229432149A>C | CA345147239 | ACTA1 | c.653T>G (p.Leu218Arg) c.518T>G (p.Leu173Arg) c.479+258T>G (n.479+258T>G) | |
1 | g.229432149A>G | CA345147240 | ACTA1 | c.653T>C (p.Leu218Pro) c.518T>C (p.Leu173Pro) c.479+258T>C (n.479+258T>C) | |
1 | g.229432149A>T | CA345147242 | ACTA1 | c.653T>A (p.Leu218Gln) c.518T>A (p.Leu173Gln) c.479+258T>A (n.479+258T>A) | |
1 | g.229432150G>A | CA423755232 | ACTA1 | c.652C>T (p.Leu218=) c.517C>T (p.Leu173=) c.479+257C>T (n.479+257C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.229432150G>C | CA345147245 | ACTA1 | c.652C>G (p.Leu218Val) c.517C>G (p.Leu173Val) c.479+257C>G (n.479+257C>G) | |
1 | g.229432150G= | CA1226125662 | ACTA1 | c.652C= (p.Leu218=) c.517C= (p.Leu173=) c.479+257C= (n.479+257C=) | |
1 | g.229432150G>T | CA345147247 | ACTA1 | c.652C>A (p.Leu218Met) c.517C>A (p.Leu173Met) c.479+257C>A (n.479+257C>A) | |
1 | g.229432151C>A | CA345147251 | ACTA1 | c.651G>T (p.Lys217Asn) c.516G>T (p.Lys172Asn) c.479+256G>T (n.479+256G>T) | |
1 | g.229432151C>G | CA345147252 | ACTA1 | c.651G>C (p.Lys217Asn) c.516G>C (p.Lys172Asn) c.479+256G>C (n.479+256G>C) | |
1 | g.229432151C>T | CA423755235 | ACTA1 | c.651G>A (p.Lys217=) c.516G>A (p.Lys172=) c.479+256G>A (n.479+256G>A) | ClinVar |
1 | g.229432152T>A | CA345147257 | ACTA1 | c.650A>T (p.Lys217Met) c.515A>T (p.Lys172Met) c.479+255A>T (n.479+255A>T) | |
1 | g.229432152T>C | CA345147259 | ACTA1 | c.650A>G (p.Lys217Arg) c.515A>G (p.Lys172Arg) c.479+255A>G (n.479+255A>G) | |
1 | g.229432152T>G | CA345147263 | ACTA1 | c.650A>C (p.Lys217Thr) c.515A>C (p.Lys172Thr) c.479+255A>C (n.479+255A>C) | |
1 | g.229432153T>A | CA345147266 | ACTA1 | c.649A>T (p.Lys217Ter) c.514A>T (p.Lys172Ter) c.479+254A>T (n.479+254A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432153T>C | CA345147270 | ACTA1 | c.649A>G (p.Lys217Glu) c.514A>G (p.Lys172Glu) c.479+254A>G (n.479+254A>G) | |
1 | g.229432153T>G | CA345147272 | ACTA1 | c.649A>C (p.Lys217Gln) c.514A>C (p.Lys172Gln) c.479+254A>C (n.479+254A>C) | |
1 | g.229432153T= | CA1226125663 | ACTA1 | c.649A= (p.Lys217=) c.514A= (p.Lys172=) c.479+254A= (n.479+254A=) | |
1 | g.229432154del | CA645538678 | ACTA1 | c.648del (p.Lys217SerfsTer?) c.513del (p.Lys172SerfsTer?) c.479+253del (n.479+253del) | COSMIC |
1 | g.229432154C>A | CA345147276 | ACTA1 | c.648G>T (p.Glu216Asp) c.513G>T (p.Glu171Asp) c.479+253G>T (n.479+253G>T) | |
1 | g.229432154C= | CA1145060616 | ACTA1 | c.648G= (p.Glu216=) c.513G= (p.Glu171=) c.479+253G= (n.479+253G=) | |
1 | g.229432154C>G | CA345147280 | ACTA1 | c.648G>C (p.Glu216Asp) c.513G>C (p.Glu171Asp) c.479+253G>C (n.479+253G>C) | |
1 | g.229432154C>T | CA38815737 | ACTA1 | c.648G>A (p.Glu216=) c.513G>A (p.Glu171=) c.479+253G>A (n.479+253G>A) | dbSNP gnomAD v4 |
1 | g.229432155T>A | CA345147282 | ACTA1 | c.647A>T (p.Glu216Val) c.512A>T (p.Glu171Val) c.479+252A>T (n.479+252A>T) | |
1 | g.229432155T>C | CA345147285 | ACTA1 | c.647A>G (p.Glu216Gly) c.512A>G (p.Glu171Gly) c.479+252A>G (n.479+252A>G) | |
1 | g.229432155T>G | CA345147289 | ACTA1 | c.647A>C (p.Glu216Ala) c.512A>C (p.Glu171Ala) c.479+252A>C (n.479+252A>C) | |
1 | g.229432156C>A | CA345147293 | ACTA1 | c.646G>T (p.Glu216Ter) c.511G>T (p.Glu171Ter) c.479+251G>T (n.479+251G>T) | |
1 | g.229432156C>G | CA345147298 | ACTA1 | c.646G>C (p.Glu216Gln) c.511G>C (p.Glu171Gln) c.479+251G>C (n.479+251G>C) | |
1 | g.229432156C>T | CA345147303 | ACTA1 | c.646G>A (p.Glu216Lys) c.511G>A (p.Glu171Lys) c.479+251G>A (n.479+251G>A) | ClinVar |
1 | g.229432157C>A | CA345147307 | ACTA1 | c.645G>T (p.Lys215Asn) c.510G>T (p.Lys170Asn) c.479+250G>T (n.479+250G>T) | |
1 | g.229432157C= | CA1226125664 | ACTA1 | c.645G= (p.Lys215=) c.510G= (p.Lys170=) c.479+250G= (n.479+250G=) | |
1 | g.229432157C>G | CA345147311 | ACTA1 | c.645G>C (p.Lys215Asn) c.510G>C (p.Lys170Asn) c.479+250G>C (n.479+250G>C) | |
1 | g.229432157C>T | CA423755241 | ACTA1 | c.645G>A (p.Lys215=) c.510G>A (p.Lys170=) c.479+250G>A (n.479+250G>A) | ClinVar dbSNP |
1 | g.229432158T>A | CA345147315 | ACTA1 | c.644A>T (p.Lys215Met) c.509A>T (p.Lys170Met) c.479+249A>T (n.479+249A>T) | |
1 | g.229432158T>C | CA345147317 | ACTA1 | c.644A>G (p.Lys215Arg) c.509A>G (p.Lys170Arg) c.479+249A>G (n.479+249A>G) | |
1 | g.229432158T>G | CA345147319 | ACTA1 | c.644A>C (p.Lys215Thr) c.509A>C (p.Lys170Thr) c.479+249A>C (n.479+249A>C) | |
1 | g.229432159T>A | CA345147325 | ACTA1 | c.643A>T (p.Lys215Ter) c.508A>T (p.Lys170Ter) c.479+248A>T (n.479+248A>T) | |
1 | g.229432159T>C | CA345147327 | ACTA1 | c.643A>G (p.Lys215Glu) c.508A>G (p.Lys170Glu) c.479+248A>G (n.479+248A>G) | dbSNP |
1 | g.229432159T>G | CA345147322 | ACTA1 | c.643A>C (p.Lys215Gln) c.508A>C (p.Lys170Gln) c.479+248A>C (n.479+248A>C) | |
1 | g.229432159T= | CA1226125665 | ACTA1 | c.643A= (p.Lys215=) c.508A= (p.Lys170=) c.479+248A= (n.479+248A=) | |
1 | g.229432160G>A | CA423755244 | ACTA1 | c.642C>T (p.Ile214=) c.507C>T (p.Ile169=) c.479+247C>T (n.479+247C>T) | |
1 | g.229432160G>C | CA345147329 | ACTA1 | c.642C>G (p.Ile214Met) c.507C>G (p.Ile169Met) c.479+247C>G (n.479+247C>G) | COSMIC |
1 | g.229432160G>T | CA423755245 | ACTA1 | c.642C>A (p.Ile214=) c.507C>A (p.Ile169=) c.479+247C>A (n.479+247C>A) |