Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
1 | g.229432161A>C | CA345147334 | ACTA1 | c.641T>G (p.Ile214Ser) c.506T>G (p.Ile169Ser) c.479+246T>G (n.479+246T>G) | |
1 | g.229432161A>G | CA345147337 | ACTA1 | c.641T>C (p.Ile214Thr) c.506T>C (p.Ile169Thr) c.479+246T>C (n.479+246T>C) | |
1 | g.229432161A>T | CA345147338 | ACTA1 | c.641T>A (p.Ile214Asn) c.506T>A (p.Ile169Asn) c.479+246T>A (n.479+246T>A) | |
1 | g.229432162T>A | CA345147342 | ACTA1 | c.640A>T (p.Ile214Phe) c.505A>T (p.Ile169Phe) c.479+245A>T (n.479+245A>T) | |
1 | g.229432162T>C | CA345147344 | ACTA1 | c.640A>G (p.Ile214Val) c.505A>G (p.Ile169Val) c.479+245A>G (n.479+245A>G) | ClinVar |
1 | g.229432162T>G | CA345147350 | ACTA1 | c.640A>C (p.Ile214Leu) c.505A>C (p.Ile169Leu) c.479+245A>C (n.479+245A>C) | |
1 | g.229432163G>A | CA423755246 | ACTA1 | c.639C>T (p.Asp213=) c.504C>T (p.Asp168=) c.479+244C>T (n.479+244C>T) | |
1 | g.229432163G>C | CA345147355 | ACTA1 | c.639C>G (p.Asp213Glu) c.504C>G (p.Asp168Glu) c.479+244C>G (n.479+244C>G) | |
1 | g.229432163G>T | CA345147353 | ACTA1 | c.639C>A (p.Asp213Glu) c.504C>A (p.Asp168Glu) c.479+244C>A (n.479+244C>A) | |
1 | g.229432164T>A | CA345147362 | ACTA1 | c.638A>T (p.Asp213Val) c.503A>T (p.Asp168Val) c.479+243A>T (n.479+243A>T) | |
1 | g.229432164T>C | CA345147365 | ACTA1 | c.638A>G (p.Asp213Gly) c.503A>G (p.Asp168Gly) c.479+243A>G (n.479+243A>G) | COSMIC |
1 | g.229432164T>G | CA345147369 | ACTA1 | c.638A>C (p.Asp213Ala) c.503A>C (p.Asp168Ala) c.479+243A>C (n.479+243A>C) | |
1 | g.229432165C>A | CA345147372 | ACTA1 | c.637G>T (p.Asp213Tyr) c.502G>T (p.Asp168Tyr) c.479+242G>T (n.479+242G>T) | |
1 | g.229432165C= | CA1226125666 | ACTA1 | c.637G= (p.Asp213=) c.502G= (p.Asp168=) c.479+242G= (n.479+242G=) | |
1 | g.229432165C>G | CA345147376 | ACTA1 | c.637G>C (p.Asp213His) c.502G>C (p.Asp168His) c.479+242G>C (n.479+242G>C) | |
1 | g.229432165C>T | CA345147378 | ACTA1 | c.637G>A (p.Asp213Asn) c.502G>A (p.Asp168Asn) c.479+242G>A (n.479+242G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432166G>A | CA423755252 | ACTA1 | c.636C>T (p.Arg212=) c.501C>T (p.Arg167=) c.479+241C>T (n.479+241C>T) | |
1 | g.229432166G>C | CA423755253 | ACTA1 | c.636C>G (p.Arg212=) c.501C>G (p.Arg167=) c.479+241C>G (n.479+241C>G) | |
1 | g.229432166G>T | CA423755255 | ACTA1 | c.636C>A (p.Arg212=) c.501C>A (p.Arg167=) c.479+241C>A (n.479+241C>A) | |
1 | g.229432167C>A | CA345147390 | ACTA1 | c.635G>T (p.Arg212Leu) c.500G>T (p.Arg167Leu) c.479+240G>T (n.479+240G>T) | |
1 | g.229432167C>G | CA345147383 | ACTA1 | c.635G>C (p.Arg212Pro) c.500G>C (p.Arg167Pro) c.479+240G>C (n.479+240G>C) | |
1 | g.229432167C>T | CA345147386 | ACTA1 | c.635G>A (p.Arg212His) c.500G>A (p.Arg167His) c.479+240G>A (n.479+240G>A) | |
1 | g.229432168G>A | CA345147393 | ACTA1 | c.634C>T (p.Arg212Cys) c.499C>T (p.Arg167Cys) c.479+239C>T (n.479+239C>T) | |
1 | g.229432168G>C | CA345147394 | ACTA1 | c.634C>G (p.Arg212Gly) c.499C>G (p.Arg167Gly) c.479+239C>G (n.479+239C>G) | |
1 | g.229432168G>T | CA345147396 | ACTA1 | c.634C>A (p.Arg212Ser) c.499C>A (p.Arg167Ser) c.479+239C>A (n.479+239C>A) | COSMIC |
1 | g.229432169C>A | CA423755258 | ACTA1 | c.633G>T (p.Val211=) c.498G>T (p.Val166=) c.479+238G>T (n.479+238G>T) | |
1 | g.229432169C= | CA1226125667 | ACTA1 | c.633G= (p.Val211=) c.498G= (p.Val166=) c.479+238G= (n.479+238G=) | |
1 | g.229432169C>G | CA423755260 | ACTA1 | c.633G>C (p.Val211=) c.498G>C (p.Val166=) c.479+238G>C (n.479+238G>C) | |
1 | g.229432169C>T | CA38815744 | ACTA1 | c.633G>A (p.Val211=) c.498G>A (p.Val166=) c.479+238G>A (n.479+238G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432170A>C | CA345147398 | ACTA1 | c.632T>G (p.Val211Gly) c.497T>G (p.Val166Gly) c.479+237T>G (n.479+237T>G) | |
1 | g.229432170A>G | CA345147399 | ACTA1 | c.632T>C (p.Val211Ala) c.497T>C (p.Val166Ala) c.479+237T>C (n.479+237T>C) | |
1 | g.229432170A>T | CA345147403 | ACTA1 | c.632T>A (p.Val211Glu) c.497T>A (p.Val166Glu) c.479+237T>A (n.479+237T>A) | |
1 | g.229432171C>A | CA345147407 | ACTA1 | c.631G>T (p.Val211Leu) c.496G>T (p.Val166Leu) c.479+236G>T (n.479+236G>T) | |
1 | g.229432171C>G | CA345147409 | ACTA1 | c.631G>C (p.Val211Leu) c.496G>C (p.Val166Leu) c.479+236G>C (n.479+236G>C) | gnomAD v4 |
1 | g.229432171C>T | CA345147413 | ACTA1 | c.631G>A (p.Val211Met) c.496G>A (p.Val166Met) c.479+236G>A (n.479+236G>A) | COSMIC |
1 | g.229432172G>A | CA423755263 | ACTA1 | c.630C>T (p.Ile210=) c.495C>T (p.Ile165=) c.479+235C>T (n.479+235C>T) | dbSNP gnomAD v4 |
1 | g.229432172G>C | CA345147417 | ACTA1 | c.630C>G (p.Ile210Met) c.495C>G (p.Ile165Met) c.479+235C>G (n.479+235C>G) | ClinVar |
1 | g.229432172G= | CA1226125668 | ACTA1 | c.630C= (p.Ile210=) c.495C= (p.Ile165=) c.479+235C= (n.479+235C=) | |
1 | g.229432172G>T | CA423755264 | ACTA1 | c.630C>A (p.Ile210=) c.495C>A (p.Ile165=) c.479+235C>A (n.479+235C>A) | |
1 | g.229432173A>C | CA345147423 | ACTA1 | c.629T>G (p.Ile210Ser) c.494T>G (p.Ile165Ser) c.479+234T>G (n.479+234T>G) | |
1 | g.229432173A>G | CA345147432 | ACTA1 | c.629T>C (p.Ile210Thr) c.494T>C (p.Ile165Thr) c.479+234T>C (n.479+234T>C) | |
1 | g.229432173A>T | CA345147434 | ACTA1 | c.629T>A (p.Ile210Asn) c.494T>A (p.Ile165Asn) c.479+234T>A (n.479+234T>A) | |
1 | g.229432174T>A | CA345147443 | ACTA1 | c.628A>T (p.Ile210Phe) c.493A>T (p.Ile165Phe) c.479+233A>T (n.479+233A>T) | gnomAD v4 |
1 | g.229432174T>C | CA345147439 | ACTA1 | c.628A>G (p.Ile210Val) c.493A>G (p.Ile165Val) c.479+233A>G (n.479+233A>G) | |
1 | g.229432174T>G | CA345147441 | ACTA1 | c.628A>C (p.Ile210Leu) c.493A>C (p.Ile165Leu) c.479+233A>C (n.479+233A>C) | |
1 | g.229432175C>A | CA345147447 | ACTA1 | c.627G>T (p.Glu209Asp) c.492G>T (p.Glu164Asp) c.479+232G>T (n.479+232G>T) | ClinVar |
1 | g.229432175C= | CA1226125669 | ACTA1 | c.627G= (p.Glu209=) c.492G= (p.Glu164=) c.479+232G= (n.479+232G=) | |
1 | g.229432175C>G | CA345147450 | ACTA1 | c.627G>C (p.Glu209Asp) c.492G>C (p.Glu164Asp) c.479+232G>C (n.479+232G>C) | ClinVar |
1 | g.229432175C>T | CA423755268 | ACTA1 | c.627G>A (p.Glu209=) c.492G>A (p.Glu164=) c.479+232G>A (n.479+232G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432176T>A | CA345147457 | ACTA1 | c.626A>T (p.Glu209Val) c.491A>T (p.Glu164Val) c.479+231A>T (n.479+231A>T) | |
1 | g.229432176T>C | CA345147461 | ACTA1 | c.626A>G (p.Glu209Gly) c.491A>G (p.Glu164Gly) c.479+231A>G (n.479+231A>G) | |
1 | g.229432176T>G | CA345147464 | ACTA1 | c.626A>C (p.Glu209Ala) c.491A>C (p.Glu164Ala) c.479+231A>C (n.479+231A>C) | |
1 | g.229432177C>A | CA345147474 | ACTA1 | c.625G>T (p.Glu209Ter) c.490G>T (p.Glu164Ter) c.479+230G>T (n.479+230G>T) | |
1 | g.229432177C>G | CA345147477 | ACTA1 | c.625G>C (p.Glu209Gln) c.490G>C (p.Glu164Gln) c.479+230G>C (n.479+230G>C) | |
1 | g.229432177C>T | CA345147479 | ACTA1 | c.625G>A (p.Glu209Lys) c.490G>A (p.Glu164Lys) c.479+230G>A (n.479+230G>A) | |
1 | g.229432178G>A | CA423755272 | ACTA1 | c.624C>T (p.Arg208=) c.489C>T (p.Arg163=) c.479+229C>T (n.479+229C>T) | |
1 | g.229432178G>C | CA423755273 | ACTA1 | c.624C>G (p.Arg208=) c.489C>G (p.Arg163=) c.479+229C>G (n.479+229C>G) | |
1 | g.229432178G= | CA1226125670 | ACTA1 | c.624C= (p.Arg208=) c.489C= (p.Arg163=) c.479+229C= (n.479+229C=) | |
1 | g.229432178G>T | CA1442817 | ACTA1 | c.624C>A (p.Arg208=) c.489C>A (p.Arg163=) c.479+229C>A (n.479+229C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432179C>A | CA345147489 | ACTA1 | c.623G>T (p.Arg208Leu) c.488G>T (p.Arg163Leu) c.479+228G>T (n.479+228G>T) | dbSNP gnomAD v4 |
1 | g.229432179C= | CA1226125671 | ACTA1 | c.623G= (p.Arg208=) c.488G= (p.Arg163=) c.479+228G= (n.479+228G=) | |
1 | g.229432179C>G | CA345147492 | ACTA1 | c.623G>C (p.Arg208Pro) c.488G>C (p.Arg163Pro) c.479+228G>C (n.479+228G>C) | |
1 | g.229432179C>T | CA345147495 | ACTA1 | c.623G>A (p.Arg208His) c.488G>A (p.Arg163His) c.479+228G>A (n.479+228G>A) | dbSNP COSMIC |
1 | g.229432180G>A | CA345147498 | ACTA1 | c.622C>T (p.Arg208Cys) c.487C>T (p.Arg163Cys) c.479+227C>T (n.479+227C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432180G>C | CA345147503 | ACTA1 | c.622C>G (p.Arg208Gly) c.487C>G (p.Arg163Gly) c.479+227C>G (n.479+227C>G) | |
1 | g.229432180G= | CA1142245544 | ACTA1 | c.622C= (p.Arg208=) c.487C= (p.Arg163=) c.479+227C= (n.479+227C=) | |
1 | g.229432180G>T | CA1442818 | ACTA1 | c.622C>A (p.Arg208Ser) c.487C>A (p.Arg163Ser) c.479+227C>A (n.479+227C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432180dup | CA2841097834 | ACTA1 | c.622dup (p.Arg208ProfsTer?) c.487dup (p.Arg163ProfsTer?) c.479+227dup (n.479+227dup) | |
1 | g.229432181C>A | CA345147510 | ACTA1 | c.621G>T (p.Glu207Asp) c.486G>T (p.Glu162Asp) c.479+226G>T (n.479+226G>T) | |
1 | g.229432181C= | CA1143538617 | ACTA1 | c.621G= (p.Glu207=) c.486G= (p.Glu162=) c.479+226G= (n.479+226G=) | |
1 | g.229432181C>G | CA344560 | ACTA1 | c.621G>C (p.Glu207Asp) c.486G>C (p.Glu162Asp) c.479+226G>C (n.479+226G>C) | ClinVar dbSNP |
1 | g.229432181C>T | CA423755275 | ACTA1 | c.621G>A (p.Glu207=) c.486G>A (p.Glu162=) c.479+226G>A (n.479+226G>A) | |
1 | g.229432182T>A | CA345147522 | ACTA1 | c.620A>T (p.Glu207Val) c.485A>T (p.Glu162Val) c.479+225A>T (n.479+225A>T) | ClinVar |
1 | g.229432182T>C | CA345147525 | ACTA1 | c.620A>G (p.Glu207Gly) c.485A>G (p.Glu162Gly) c.479+225A>G (n.479+225A>G) | |
1 | g.229432182T>G | CA345147528 | ACTA1 | c.620A>C (p.Glu207Ala) c.485A>C (p.Glu162Ala) c.479+225A>C (n.479+225A>C) | |
1 | g.229432182dup | CA2650926641 | ACTA1 | c.620dup (p.Arg208AlafsTer?) c.485dup (p.Arg163AlafsTer?) c.479+225dup (n.479+225dup) | gnomAD v4 |
1 | g.229432183C>A | CA345147531 | ACTA1 | c.619G>T (p.Glu207Ter) c.484G>T (p.Glu162Ter) c.479+224G>T (n.479+224G>T) | dbSNP |
1 | g.229432183C= | CA1226125672 | ACTA1 | c.619G= (p.Glu207=) c.484G= (p.Glu162=) c.479+224G= (n.479+224G=) | |
1 | g.229432183C>G | CA345147534 | ACTA1 | c.619G>C (p.Glu207Gln) c.484G>C (p.Glu162Gln) c.479+224G>C (n.479+224G>C) | |
1 | g.229432183C>T | CA345147539 | ACTA1 | c.619G>A (p.Glu207Lys) c.484G>A (p.Glu162Lys) c.479+224G>A (n.479+224G>A) | |
1 | g.229432184A>C | CA423755279 | ACTA1 | c.618T>G (p.Ala206=) c.483T>G (p.Ala161=) c.479+223T>G (n.479+223T>G) | |
1 | g.229432184A>G | CA423755281 | ACTA1 | c.618T>C (p.Ala206=) c.483T>C (p.Ala161=) c.479+223T>C (n.479+223T>C) | gnomAD v4 |
1 | g.229432184A>T | CA423755280 | ACTA1 | c.618T>A (p.Ala206=) c.483T>A (p.Ala161=) c.479+223T>A (n.479+223T>A) | |
1 | g.229432185G>A | CA345147543 | ACTA1 | c.617C>T (p.Ala206Val) c.482C>T (p.Ala161Val) c.479+222C>T (n.479+222C>T) | ClinVar dbSNP |
1 | g.229432185G>C | CA345147547 | ACTA1 | c.617C>G (p.Ala206Gly) c.482C>G (p.Ala161Gly) c.479+222C>G (n.479+222C>G) | |
1 | g.229432185G= | CA1226125673 | ACTA1 | c.617C= (p.Ala206=) c.482C= (p.Ala161=) c.479+222C= (n.479+222C=) | |
1 | g.229432185G>T | CA345147549 | ACTA1 | c.617C>A (p.Ala206Asp) c.482C>A (p.Ala161Asp) c.479+222C>A (n.479+222C>A) | |
1 | g.229432186C>A | CA345147550 | ACTA1 | c.617-1G>T (n.617-1G>T) c.482-1G>T (n.482-1G>T) c.479+221G>T (n.479+221G>T) | |
1 | g.229432186C>G | CA345147551 | ACTA1 | c.617-1G>C (n.617-1G>C) c.482-1G>C (n.482-1G>C) c.479+221G>C (n.479+221G>C) | |
1 | g.229432186C>T | CA345147552 | ACTA1 | c.617-1G>A (n.617-1G>A) c.482-1G>A (n.482-1G>A) c.479+221G>A (n.479+221G>A) | |
1 | g.229432189_229432272del | CA529915257 | ACTA1 | c.616+1_617-1del c.481+1_482-1del c.479+138_479+221del (n.479+138_479+221del) | gnomAD v2 gnomAD v4 |
1 | g.229432187T>A | CA345147559 | ACTA1 | c.617-2A>T (n.617-2A>T) c.482-2A>T (n.482-2A>T) c.479+220A>T (n.479+220A>T) | |
1 | g.229432187T>C | CA345147557 | ACTA1 | c.617-2A>G (n.617-2A>G) c.482-2A>G (n.482-2A>G) c.479+220A>G (n.479+220A>G) | |
1 | g.229432187T>G | CA345147558 | ACTA1 | c.617-2A>C (n.617-2A>C) c.482-2A>C (n.482-2A>C) c.479+220A>C (n.479+220A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432187T= | CA1226125674 | ACTA1 | c.617-2A= (n.617-2A=) c.482-2A= (n.482-2A=) c.479+220A= (n.479+220A=) | |
1 | g.229432188G>T | CA2650926642 | ACTA1 | c.617-3C>A (n.617-3C>A) c.482-3C>A (n.482-3C>A) c.479+219C>A (n.479+219C>A) | gnomAD v4 |
1 | g.229432189C>A | CA2650926643 | ACTA1 | c.617-4G>T (n.617-4G>T) c.482-4G>T (n.482-4G>T) c.479+218G>T (n.479+218G>T) | gnomAD v4 |
1 | g.229432189C= | CA1143807374 | ACTA1 | c.617-4G= (n.617-4G=) c.482-4G= (n.482-4G=) c.479+218G= (n.479+218G=) | |
1 | g.229432189C>T | CA1442819 | ACTA1 | c.617-4G>A (n.617-4G>A) c.482-4G>A (n.482-4G>A) c.479+218G>A (n.479+218G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432190G>A | CA1442820 | ACTA1 | c.617-5C>T (n.617-5C>T) c.482-5C>T (n.482-5C>T) c.479+217C>T (n.479+217C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432190G= | CA1143376761 | ACTA1 | c.617-5C= (n.617-5C=) c.482-5C= (n.482-5C=) c.479+217C= (n.479+217C=) | |
1 | g.229432190G>T | CA2499214555 | ACTA1 | c.617-5C>A (n.617-5C>A) c.482-5C>A (n.482-5C>A) c.479+217C>A (n.479+217C>A) | ClinVar dbSNP |
1 | g.229432190_229432191dup | CA2570707815 | ACTA1 | c.617-6_617-5dup (n.617-6_617-5dup) c.482-6_482-5dup (n.482-6_482-5dup) c.479+216_479+217dup (n.479+216_479+217dup) | |
1 | g.229432191G>A | CA2748068663 | ACTA1 | c.617-6C>T (n.617-6C>T) c.482-6C>T (n.482-6C>T) c.479+216C>T (n.479+216C>T) | |
1 | g.229432192_229432193delinsAG | CA1226125675 | ACTA1 | c.617-8_617-7delinsCT (n.617-8_617-7delinsCT) c.482-8_482-7delinsCT (n.482-8_482-7delinsCT) c.479+214_479+215delinsCT (n.479+214_479+215delinsCT) | |
1 | g.229432193G>A | CA529915264 | ACTA1 | c.617-8C>T (n.617-8C>T) c.482-8C>T (n.482-8C>T) c.479+214C>T (n.479+214C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432193G= | CA1226125676 | ACTA1 | c.617-8C= (n.617-8C=) c.482-8C= (n.482-8C=) c.479+214C= (n.479+214C=) | |
1 | g.229432195del | CA1442821 | ACTA1 | c.617-8del (n.617-8del) c.482-8del (n.482-8del) c.479+214del (n.479+214del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432194G>A | CA2650926644 | ACTA1 | c.617-9C>T (n.617-9C>T) c.482-9C>T (n.482-9C>T) c.479+213C>T (n.479+213C>T) | gnomAD v4 |
1 | g.229432194G>C | CA2650926645 | ACTA1 | c.617-9C>G (n.617-9C>G) c.482-9C>G (n.482-9C>G) c.479+213C>G (n.479+213C>G) | gnomAD v4 |
1 | g.229432195G>A | CA529915265 | ACTA1 | c.617-10C>T (n.617-10C>T) c.482-10C>T (n.482-10C>T) c.479+212C>T (n.479+212C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432195G>C | CA2650926646 | ACTA1 | c.617-10C>G (n.617-10C>G) c.482-10C>G (n.482-10C>G) c.479+212C>G (n.479+212C>G) | gnomAD v4 |
1 | g.229432195G= | CA1226125677 | ACTA1 | c.617-10C= (n.617-10C=) c.482-10C= (n.482-10C=) c.479+212C= (n.479+212C=) | |
1 | g.229432195G>T | CA2650926647 | ACTA1 | c.617-10C>A (n.617-10C>A) c.482-10C>A (n.482-10C>A) c.479+212C>A (n.479+212C>A) | gnomAD v4 |