Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
11 | g.47341995C>A | CA380324159 | MYBPC3 | c.1786G>T (p.Gly596Trp) c.1768G>T (p.Gly590Trp) | |
11 | g.47341995C= | CA1969335271 | MYBPC3 | c.1786G= (p.Gly596=) c.1768G= (p.Gly590=) | |
11 | g.47341995C>G | CA380324160 | MYBPC3 | c.1786G>C (p.Gly596Arg) c.1768G>C (p.Gly590Arg) | gnomAD v4 |
11 | g.47341995C>T | CA011102 | MYBPC3 | c.1786G>A (p.Gly596Arg) c.1768G>A (p.Gly590Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47341996del | CA2613401593 | MYBPC3 | c.1785del (p.Ile595MetfsTer7) c.1767del (p.Ile589MetfsTer7) | gnomAD v4 |
11 | g.47341996G>A | CA078286 | MYBPC3 | c.1785C>T (p.Ile595=) c.1767C>T (p.Ile589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47341996G>C | CA380324161 | MYBPC3 | c.1785C>G (p.Ile595Met) c.1767C>G (p.Ile589Met) | |
11 | g.47341996G= | CA1969335274 | MYBPC3 | c.1785C= (p.Ile595=) c.1767C= (p.Ile589=) | |
11 | g.47341996G>T | CA474218686 | MYBPC3 | c.1785C>A (p.Ile595=) c.1767C>A (p.Ile589=) | ClinVar dbSNP gnomAD v4 |
11 | g.47341997A= | CA1969335275 | MYBPC3 | c.1784T= (p.Ile595=) c.1766T= (p.Ile589=) | |
11 | g.47341997A>C | CA380324164 | MYBPC3 | c.1784T>G (p.Ile595Ser) c.1766T>G (p.Ile589Ser) | |
11 | g.47341997A>G | CA380324162 | MYBPC3 | c.1784T>C (p.Ile595Thr) c.1766T>C (p.Ile589Thr) | |
11 | g.47341997A>T | CA380324163 | MYBPC3 | c.1784T>A (p.Ile595Asn) c.1766T>A (p.Ile589Asn) | dbSNP |
11 | g.47341998T>A | CA380324165 | MYBPC3 | c.1783A>T (p.Ile595Phe) c.1765A>T (p.Ile589Phe) | |
11 | g.47341998T>C | CA011094 | MYBPC3 | c.1783A>G (p.Ile595Val) c.1765A>G (p.Ile589Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47341998T>G | CA380324166 | MYBPC3 | c.1783A>C (p.Ile595Leu) c.1765A>C (p.Ile589Leu) | |
11 | g.47341998T= | CA1969335276 | MYBPC3 | c.1783A= (p.Ile595=) c.1765A= (p.Ile589=) | |
11 | g.47341999G>A | CA046608 | MYBPC3 | c.1782C>T (p.His594=) c.1764C>T (p.His588=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47341999G>C | CA380324167 | MYBPC3 | c.1782C>G (p.His594Gln) c.1764C>G (p.His588Gln) | |
11 | g.47341999G= | CA1969335277 | MYBPC3 | c.1782C= (p.His594=) c.1764C= (p.His588=) | |
11 | g.47341999G>T | CA380324168 | MYBPC3 | c.1782C>A (p.His594Gln) c.1764C>A (p.His588Gln) | gnomAD v4 |
11 | g.47342000T>A | CA380324169 | MYBPC3 | c.1781A>T (p.His594Leu) c.1763A>T (p.His588Leu) | |
11 | g.47342000T>C | CA380324170 | MYBPC3 | c.1781A>G (p.His594Arg) c.1763A>G (p.His588Arg) | |
11 | g.47342000T>G | CA380324171 | MYBPC3 | c.1781A>C (p.His594Pro) c.1763A>C (p.His588Pro) | |
11 | g.47342001G>A | CA380324172 | MYBPC3 | c.1780C>T (p.His594Tyr) c.1762C>T (p.His588Tyr) | ClinVar dbSNP |
11 | g.47342001G>C | CA380324173 | MYBPC3 | c.1780C>G (p.His594Asp) c.1762C>G (p.His588Asp) | |
11 | g.47342001G>T | CA380324174 | MYBPC3 | c.1780C>A (p.His594Asn) c.1762C>A (p.His588Asn) | |
11 | g.47342003del | CA2695212783 | MYBPC3 | c.1780del (p.His594ThrfsTer8) c.1762del (p.His588ThrfsTer8) | |
11 | g.47342002G>A | CA474218687 | MYBPC3 | c.1779C>T (p.Ser593=) c.1761C>T (p.Ser587=) | gnomAD v4 |
11 | g.47342002G>C | CA474218688 | MYBPC3 | c.1779C>G (p.Ser593=) c.1761C>G (p.Ser587=) | |
11 | g.47342002G>T | CA046698 | MYBPC3 | c.1779C>A (p.Ser593=) c.1761C>A (p.Ser587=) | gnomAD v4 |
11 | g.47342003G>A | CA011087 | MYBPC3 | c.1778C>T (p.Ser593Phe) c.1760C>T (p.Ser587Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342003G>C | CA380324176 | MYBPC3 | c.1778C>G (p.Ser593Cys) c.1760C>G (p.Ser587Cys) | |
11 | g.47342003G= | CA1969335279 | MYBPC3 | c.1778C= (p.Ser593=) c.1760C= (p.Ser587=) | |
11 | g.47342003G>T | CA380324175 | MYBPC3 | c.1778C>A (p.Ser593Tyr) c.1760C>A (p.Ser587Tyr) | |
11 | g.47342003_47342004delinsGA | CA1969335281 | MYBPC3 | c.1777_1778delinsTC (p.Ser593=) c.1759_1760delinsTC (p.Ser587=) | |
11 | g.47342003_47342005delinsGAC | CA1969335280 | MYBPC3 | c.1776_1778delinsGTC (p.Val592=) c.1758_1760delinsGTC (p.Val586=) | |
11 | g.47342004del | CA1969335282 | MYBPC3 | c.1777del (p.Ser593ProfsTer9) c.1759del (p.Ser587ProfsTer9) | ClinVar dbSNP gnomAD v4 |
11 | g.47342004A>C | CA380324177 | MYBPC3 | c.1777T>G (p.Ser593Ala) c.1759T>G (p.Ser587Ala) | |
11 | g.47342004A>G | CA380324178 | MYBPC3 | c.1777T>C (p.Ser593Pro) c.1759T>C (p.Ser587Pro) | |
11 | g.47342004A>T | CA380324179 | MYBPC3 | c.1777T>A (p.Ser593Thr) c.1759T>A (p.Ser587Thr) | |
11 | g.47342006_47342007del | CA011070 | MYBPC3 | c.1776_1777del (p.Ser593ProfsTer11) c.1758_1759del (p.Ser587ProfsTer11) | ClinVar dbSNP |
11 | g.47342005C>A | CA474218689 | MYBPC3 | c.1776G>T (p.Val592=) c.1758G>T (p.Val586=) | |
11 | g.47342005C= | CA1969335284 | MYBPC3 | c.1776G= (p.Val592=) c.1758G= (p.Val586=) | |
11 | g.47342005C>G | CA474218690 | MYBPC3 | c.1776G>C (p.Val592=) c.1758G>C (p.Val586=) | |
11 | g.47342005C>T | CA011078 | MYBPC3 | c.1776G>A (p.Val592=) c.1758G>A (p.Val586=) | ClinVar dbSNP |
11 | g.47342006A= | CA1969335286 | MYBPC3 | c.1775T= (p.Val592=) c.1757T= (p.Val586=) | |
11 | g.47342006A>C | CA380324180 | MYBPC3 | c.1775T>G (p.Val592Gly) c.1757T>G (p.Val586Gly) | |
11 | g.47342006A>G | CA10581159 | MYBPC3 | c.1775T>C (p.Val592Ala) c.1757T>C (p.Val586Ala) | ClinVar dbSNP |