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.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 |
11 | g.47342006A>T | CA380324181 | MYBPC3 | c.1775T>A (p.Val592Glu) c.1757T>A (p.Val586Glu) | |
11 | g.47342006dup | CA2580084225 | MYBPC3 | c.1775dup (p.Ser593ValfsTer12) c.1757dup (p.Ser587ValfsTer12) | ClinVar |
11 | g.47342007C>A | CA380324182 | MYBPC3 | c.1774G>T (p.Val592Leu) c.1756G>T (p.Val586Leu) | gnomAD v4 |
11 | g.47342007C= | CA1969335288 | MYBPC3 | c.1774G= (p.Val592=) c.1756G= (p.Val586=) | |
11 | g.47342007C>G | CA380324183 | MYBPC3 | c.1774G>C (p.Val592Leu) c.1756G>C (p.Val586Leu) | |
11 | g.47342007C>T | CA380324184 | MYBPC3 | c.1774G>A (p.Val592Met) c.1756G>A (p.Val586Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342008C>A | CA078282 | MYBPC3 | c.1773G>T (p.Lys591Asn) c.1755G>T (p.Lys585Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47342008C= | CA1969335290 | MYBPC3 | c.1773G= (p.Lys591=) c.1755G= (p.Lys585=) | |
11 | g.47342008C>G | CA380324185 | MYBPC3 | c.1773G>C (p.Lys591Asn) c.1755G>C (p.Lys585Asn) | |
11 | g.47342008C>T | CA474218691 | MYBPC3 | c.1773G>A (p.Lys591=) c.1755G>A (p.Lys585=) | dbSNP gnomAD v4 |
11 | g.47342009T>A | CA380324188 | MYBPC3 | c.1772A>T (p.Lys591Met) c.1754A>T (p.Lys585Met) | |
11 | g.47342009T>C | CA380324186 | MYBPC3 | c.1772A>G (p.Lys591Arg) c.1754A>G (p.Lys585Arg) | gnomAD v4 |
11 | g.47342009T>G | CA380324187 | MYBPC3 | c.1772A>C (p.Lys591Thr) c.1754A>C (p.Lys585Thr) | |
11 | g.47342010T>A | CA380324189 | MYBPC3 | c.1771A>T (p.Lys591Ter) c.1753A>T (p.Lys585Ter) | |
11 | g.47342010T>C | CA380324190 | MYBPC3 | c.1771A>G (p.Lys591Glu) c.1753A>G (p.Lys585Glu) | |
11 | g.47342010T>G | CA380324191 | MYBPC3 | c.1771A>C (p.Lys591Gln) c.1753A>C (p.Lys585Gln) | |
11 | g.47342011T>A | CA474218692 | MYBPC3 | c.1770A>T (p.Ile590=) c.1752A>T (p.Ile584=) | |
11 | g.47342011T>C | CA380324192 | MYBPC3 | c.1770A>G (p.Ile590Met) c.1752A>G (p.Ile584Met) | gnomAD v4 |
11 | g.47342011T>G | CA474218695 | MYBPC3 | c.1770A>C (p.Ile590=) c.1752A>C (p.Ile584=) | |
11 | g.47342012A= | CA1969335291 | MYBPC3 | c.1769T= (p.Ile590=) c.1751T= (p.Ile584=) | |
11 | g.47342012A>C | CA380324193 | MYBPC3 | c.1769T>G (p.Ile590Arg) c.1751T>G (p.Ile584Arg) | |
11 | g.47342012A>G | CA380324194 | MYBPC3 | c.1769T>C (p.Ile590Thr) c.1751T>C (p.Ile584Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342012A>T | CA380324195 | MYBPC3 | c.1769T>A (p.Ile590Lys) c.1751T>A (p.Ile584Lys) | gnomAD v4 |
11 | g.47342013T>A | CA380324196 | MYBPC3 | c.1768A>T (p.Ile590Leu) c.1750A>T (p.Ile584Leu) | |
11 | g.47342013T>C | CA221694896 | MYBPC3 | c.1768A>G (p.Ile590Val) c.1750A>G (p.Ile584Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47342013T>G | CA380324197 | MYBPC3 | c.1768A>C (p.Ile590Leu) c.1750A>C (p.Ile584Leu) | |
11 | g.47342013T= | CA1969335293 | MYBPC3 | c.1768A= (p.Ile590=) c.1750A= (p.Ile584=) | |
11 | g.47342014G>A | CA474218704 | MYBPC3 | c.1767C>T (p.Arg589=) c.1749C>T (p.Arg583=) | dbSNP |
11 | g.47342014G>C | CA474218703 | MYBPC3 | c.1767C>G (p.Arg589=) c.1749C>G (p.Arg583=) | |
11 | g.47342014G= | CA1969335294 | MYBPC3 | c.1767C= (p.Arg589=) c.1749C= (p.Arg583=) | |
11 | g.47342014G>T | CA474218701 | MYBPC3 | c.1767C>A (p.Arg589=) c.1749C>A (p.Arg583=) | |
11 | g.47342015C>A | CA380324198 | MYBPC3 | c.1766G>T (p.Arg589Leu) c.1748G>T (p.Arg583Leu) | ClinVar |
11 | g.47342015C= | CA1969335296 | MYBPC3 | c.1766G= (p.Arg589=) c.1748G= (p.Arg583=) | |
11 | g.47342015C>G | CA380324199 | MYBPC3 | c.1766G>C (p.Arg589Pro) c.1748G>C (p.Arg583Pro) | |
11 | g.47342015C>T | CA011050 | MYBPC3 | c.1766G>A (p.Arg589His) c.1748G>A (p.Arg583His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342016G>A | CA380324201 | MYBPC3 | c.1765C>T (p.Arg589Cys) c.1747C>T (p.Arg583Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342016G>C | CA380324202 | MYBPC3 | c.1765C>G (p.Arg589Gly) c.1747C>G (p.Arg583Gly) | dbSNP gnomAD v4 |
11 | g.47342016G= | CA1969335298 | MYBPC3 | c.1765C= (p.Arg589=) c.1747C= (p.Arg583=) | |
11 | g.47342016G>T | CA380324200 | MYBPC3 | c.1765C>A (p.Arg589Ser) c.1747C>A (p.Arg583Ser) | |
11 | g.47342017G>A | CA078279 | MYBPC3 | c.1764C>T (p.Ser588=) c.1746C>T (p.Ser582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342017G>C | CA380324204 | MYBPC3 | c.1764C>G (p.Ser588Arg) c.1746C>G (p.Ser582Arg) | |
11 | g.47342017G= | CA1969335299 | MYBPC3 | c.1764C= (p.Ser588=) c.1746C= (p.Ser582=) | |
11 | g.47342017G>T | CA380324203 | MYBPC3 | c.1764C>A (p.Ser588Arg) c.1746C>A (p.Ser582Arg) | |
11 | g.47342018C>A | CA380324205 | MYBPC3 | c.1763G>T (p.Ser588Ile) c.1745G>T (p.Ser582Ile) | |
11 | g.47342018C>G | CA380324206 | MYBPC3 | c.1763G>C (p.Ser588Thr) c.1745G>C (p.Ser582Thr) | |
11 | g.47342018C>T | CA046574 | MYBPC3 | c.1763G>A (p.Ser588Asn) c.1745G>A (p.Ser582Asn) | |
11 | g.47342019T>A | CA380324207 | MYBPC3 | c.1762A>T (p.Ser588Cys) c.1744A>T (p.Ser582Cys) | |
11 | g.47342019T>C | CA380324208 | MYBPC3 | c.1762A>G (p.Ser588Gly) c.1744A>G (p.Ser582Gly) | ClinVar |
11 | g.47342019T>G | CA380324209 | MYBPC3 | c.1762A>C (p.Ser588Arg) c.1744A>C (p.Ser582Arg) | |
11 | g.47342020G>A | CA046556 | MYBPC3 | c.1761C>T (p.Asp587=) c.1743C>T (p.Asp581=) | ClinVar |
11 | g.47342020G>C | CA380324210 | MYBPC3 | c.1761C>G (p.Asp587Glu) c.1743C>G (p.Asp581Glu) | dbSNP gnomAD v4 |
11 | g.47342020G= | CA1969335301 | MYBPC3 | c.1761C= (p.Asp587=) c.1743C= (p.Asp581=) | |
11 | g.47342020G>T | CA380324211 | MYBPC3 | c.1761C>A (p.Asp587Glu) c.1743C>A (p.Asp581Glu) | |
11 | g.47342021T>A | CA380324212 | MYBPC3 | c.1760A>T (p.Asp587Val) c.1742A>T (p.Asp581Val) | |
11 | g.47342021T>C | CA380324213 | MYBPC3 | c.1760A>G (p.Asp587Gly) c.1742A>G (p.Asp581Gly) | |
11 | g.47342021T>G | CA380324214 | MYBPC3 | c.1760A>C (p.Asp587Ala) c.1742A>C (p.Asp581Ala) | |
11 | g.47342022C>A | CA380324215 | MYBPC3 | c.1759G>T (p.Asp587Tyr) c.1741G>T (p.Asp581Tyr) | gnomAD v4 |
11 | g.47342022C= | CA1969335303 | MYBPC3 | c.1759G= (p.Asp587=) c.1741G= (p.Asp581=) | |
11 | g.47342022C>G | CA380324216 | MYBPC3 | c.1759G>C (p.Asp587His) c.1741G>C (p.Asp581His) | ClinVar dbSNP |
11 | g.47342022C>T | CA011034 | MYBPC3 | c.1759G>A (p.Asp587Asn) c.1741G>A (p.Asp581Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342023G>A | CA011029 | MYBPC3 | c.1758C>T (p.Pro586=) c.1740C>T (p.Pro580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342023G>C | CA474218728 | MYBPC3 | c.1758C>G (p.Pro586=) c.1740C>G (p.Pro580=) | |
11 | g.47342023G= | CA1969335305 | MYBPC3 | c.1758C= (p.Pro586=) c.1740C= (p.Pro580=) | |
11 | g.47342023G>T | CA474218730 | MYBPC3 | c.1758C>A (p.Pro586=) c.1740C>A (p.Pro580=) | |
11 | g.47342024G>A | CA380324217 | MYBPC3 | c.1757C>T (p.Pro586Leu) c.1739C>T (p.Pro580Leu) | |
11 | g.47342024G>C | CA380324219 | MYBPC3 | c.1757C>G (p.Pro586Arg) c.1739C>G (p.Pro580Arg) | |
11 | g.47342024G>T | CA380324218 | MYBPC3 | c.1757C>A (p.Pro586His) c.1739C>A (p.Pro580His) | |
11 | g.47342025G>A | CA380324220 | MYBPC3 | c.1756C>T (p.Pro586Ser) c.1738C>T (p.Pro580Ser) | |
11 | g.47342025G>C | CA380324221 | MYBPC3 | c.1756C>G (p.Pro586Ala) c.1738C>G (p.Pro580Ala) | dbSNP |
11 | g.47342025G= | CA1969335307 | MYBPC3 | c.1756C= (p.Pro586=) c.1738C= (p.Pro580=) | |
11 | g.47342025G>T | CA380324222 | MYBPC3 | c.1756C>A (p.Pro586Thr) c.1738C>A (p.Pro580Thr) | |
11 | g.47342025_47342026delinsGC | CA1969335308 | MYBPC3 | c.1755_1756delinsGC (p.Val585=) c.1737_1738delinsGC (p.Val579=) | |
11 | g.47342026del | CA915948155 | MYBPC3 | c.1755del (p.Asp587ThrfsTer4) c.1737del (p.Asp581ThrfsTer4) | ClinVar dbSNP |
11 | g.47342026C>A | CA474218737 | MYBPC3 | c.1755G>T (p.Val585=) c.1737G>T (p.Val579=) | |
11 | g.47342026C>G | CA474218739 | MYBPC3 | c.1755G>C (p.Val585=) c.1737G>C (p.Val579=) | |
11 | g.47342026C>T | CA474218740 | MYBPC3 | c.1755G>A (p.Val585=) c.1737G>A (p.Val579=) | ClinVar |
11 | g.47342027A>C | CA380324223 | MYBPC3 | c.1754T>G (p.Val585Gly) c.1736T>G (p.Val579Gly) | |
11 | g.47342027A>G | CA380324224 | MYBPC3 | c.1754T>C (p.Val585Ala) c.1736T>C (p.Val579Ala) | |
11 | g.47342027A>T | CA380324225 | MYBPC3 | c.1754T>A (p.Val585Glu) c.1736T>A (p.Val579Glu) | |
11 | g.47342028C>A | CA380324226 | MYBPC3 | c.1753G>T (p.Val585Leu) c.1735G>T (p.Val579Leu) | gnomAD v4 |
11 | g.47342028C>G | CA380324227 | MYBPC3 | c.1753G>C (p.Val585Leu) c.1735G>C (p.Val579Leu) | |
11 | g.47342028C>T | CA380324228 | MYBPC3 | c.1753G>A (p.Val585Met) c.1735G>A (p.Val579Met) | |
11 | g.47342029C>A | CA474218752 | MYBPC3 | c.1752G>T (p.Leu584=) c.1734G>T (p.Leu578=) | |
11 | g.47342029C= | CA1969335311 | MYBPC3 | c.1752G= (p.Leu584=) c.1734G= (p.Leu578=) | |
11 | g.47342029C>G | CA474218754 | MYBPC3 | c.1752G>C (p.Leu584=) c.1734G>C (p.Leu578=) | |
11 | g.47342029C>T | CA474218756 | MYBPC3 | c.1752G>A (p.Leu584=) c.1734G>A (p.Leu578=) | dbSNP |
11 | g.47342030A>C | CA380324231 | MYBPC3 | c.1751T>G (p.Leu584Arg) c.1733T>G (p.Leu578Arg) | |
11 | g.47342030A>G | CA380324230 | MYBPC3 | c.1751T>C (p.Leu584Pro) c.1733T>C (p.Leu578Pro) | |
11 | g.47342030A>T | CA380324229 | MYBPC3 | c.1751T>A (p.Leu584Gln) c.1733T>A (p.Leu578Gln) | |
11 | g.47342031G>A | CA474218763 | MYBPC3 | c.1750C>T (p.Leu584=) c.1732C>T (p.Leu578=) | ClinVar dbSNP |
11 | g.47342031G>C | CA380324232 | MYBPC3 | c.1750C>G (p.Leu584Val) c.1732C>G (p.Leu578Val) | |
11 | g.47342031G= | CA1969335312 | MYBPC3 | c.1750C= (p.Leu584=) c.1732C= (p.Leu578=) | |
11 | g.47342031G>T | CA380324233 | MYBPC3 | c.1750C>A (p.Leu584Met) c.1732C>A (p.Leu578Met) | |
11 | g.47342032C>A | CA380324234 | MYBPC3 | c.1749G>T (p.Glu583Asp) c.1731G>T (p.Glu577Asp) | |
11 | g.47342032C= | CA1969335313 | MYBPC3 | c.1749G= (p.Glu583=) c.1731G= (p.Glu577=) | |
11 | g.47342032C>G | CA380324235 | MYBPC3 | c.1749G>C (p.Glu583Asp) c.1731G>C (p.Glu577Asp) | |
11 | g.47342032C>T | CA221694946 | MYBPC3 | c.1749G>A (p.Glu583=) c.1731G>A (p.Glu577=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342033T>A | CA380324236 | MYBPC3 | c.1748A>T (p.Glu583Val) c.1730A>T (p.Glu577Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342033T>C | CA380324237 | MYBPC3 | c.1748A>G (p.Glu583Gly) c.1730A>G (p.Glu577Gly) | |
11 | g.47342033T>G | CA380324238 | MYBPC3 | c.1748A>C (p.Glu583Ala) c.1730A>C (p.Glu577Ala) | |
11 | g.47342033T= | CA1969335315 | MYBPC3 | c.1748A= (p.Glu583=) c.1730A= (p.Glu577=) | |
11 | g.47342034C>A | CA380324239 | MYBPC3 | c.1747G>T (p.Glu583Ter) c.1729G>T (p.Glu577Ter) | |
11 | g.47342034C= | CA1969335317 | MYBPC3 | c.1747G= (p.Glu583=) c.1729G= (p.Glu577=) | |
11 | g.47342034C>G | CA380324240 | MYBPC3 | c.1747G>C (p.Glu583Gln) c.1729G>C (p.Glu577Gln) | |
11 | g.47342034C>T | CA380324241 | MYBPC3 | c.1747G>A (p.Glu583Lys) c.1729G>A (p.Glu577Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342035C>A | CA380324242 | MYBPC3 | c.1746G>T (p.Lys582Asn) c.1728G>T (p.Lys576Asn) | |
11 | g.47342035C>G | CA380324243 | MYBPC3 | c.1746G>C (p.Lys582Asn) c.1728G>C (p.Lys576Asn) | |
11 | g.47342035C>T | CA474218775 | MYBPC3 | c.1746G>A (p.Lys582=) c.1728G>A (p.Lys576=) | |
11 | g.47342039_47342047del | CA2613401771 | MYBPC3 | c.1738_1746del (p.Asn580_Lys582del) c.1720_1728del (p.Asn574_Lys576del) | gnomAD v4 |
11 | g.47342036T>A | CA380324244 | MYBPC3 | c.1745A>T (p.Lys582Met) c.1727A>T (p.Lys576Met) | |
11 | g.47342036T>C | CA380324246 | MYBPC3 | c.1745A>G (p.Lys582Arg) c.1727A>G (p.Lys576Arg) | |
11 | g.47342036T>G | CA380324245 | MYBPC3 | c.1745A>C (p.Lys582Thr) c.1727A>C (p.Lys576Thr) | |
11 | g.47342037T>A | CA380324247 | MYBPC3 | c.1744A>T (p.Lys582Ter) c.1726A>T (p.Lys576Ter) | |
11 | g.47342037T>C | CA380324248 | MYBPC3 | c.1744A>G (p.Lys582Glu) c.1726A>G (p.Lys576Glu) | |
11 | g.47342037T>G | CA380324249 | MYBPC3 | c.1744A>C (p.Lys582Gln) c.1726A>C (p.Lys576Gln) | |
11 | g.47342038C>A | CA474218783 | MYBPC3 | c.1743G>T (p.Gly581=) c.1725G>T (p.Gly575=) | |
11 | g.47342038C>G | CA474218784 | MYBPC3 | c.1743G>C (p.Gly581=) c.1725G>C (p.Gly575=) | |
11 | g.47342038C>T | CA474218786 | MYBPC3 | c.1743G>A (p.Gly581=) c.1725G>A (p.Gly575=) | ClinVar dbSNP |
11 | g.47342039C>A | CA380324250 | MYBPC3 | c.1742G>T (p.Gly581Val) c.1724G>T (p.Gly575Val) | |
11 | g.47342039C= | CA1969335319 | MYBPC3 | c.1742G= (p.Gly581=) c.1724G= (p.Gly575=) | |
11 | g.47342039C>G | CA380324251 | MYBPC3 | c.1742G>C (p.Gly581Ala) c.1724G>C (p.Gly575Ala) | |
11 | g.47342039C>T | CA380324252 | MYBPC3 | c.1742G>A (p.Gly581Glu) c.1724G>A (p.Gly575Glu) | dbSNP |
11 | g.47342040C>A | CA380324253 | MYBPC3 | c.1741G>T (p.Gly581Trp) c.1723G>T (p.Gly575Trp) | |
11 | g.47342040C>G | CA380324254 | MYBPC3 | c.1741G>C (p.Gly581Arg) c.1723G>C (p.Gly575Arg) | |
11 | g.47342040C>T | CA380324255 | MYBPC3 | c.1741G>A (p.Gly581Arg) c.1723G>A (p.Gly575Arg) | |
11 | g.47342041A>C | CA380324256 | MYBPC3 | c.1740T>G (p.Asn580Lys) c.1722T>G (p.Asn574Lys) | |
11 | g.47342041A>G | CA474218793 | MYBPC3 | c.1740T>C (p.Asn580=) c.1722T>C (p.Asn574=) | ClinVar gnomAD v4 |
11 | g.47342041A>T | CA380324257 | MYBPC3 | c.1740T>A (p.Asn580Lys) c.1722T>A (p.Asn574Lys) | |
11 | g.47342042T>A | CA380324259 | MYBPC3 | c.1739A>T (p.Asn580Ile) c.1721A>T (p.Asn574Ile) | |
11 | g.47342042T>C | CA380324260 | MYBPC3 | c.1739A>G (p.Asn580Ser) c.1721A>G (p.Asn574Ser) | gnomAD v4 |
11 | g.47342042T>G | CA380324258 | MYBPC3 | c.1739A>C (p.Asn580Thr) c.1721A>C (p.Asn574Thr) | |
11 | g.47342043T>A | CA380324261 | MYBPC3 | c.1738A>T (p.Asn580Tyr) c.1720A>T (p.Asn574Tyr) | |
11 | g.47342043T>C | CA380324262 | MYBPC3 | c.1738A>G (p.Asn580Asp) c.1720A>G (p.Asn574Asp) | |
11 | g.47342043T>G | CA380324263 | MYBPC3 | c.1738A>C (p.Asn580His) c.1720A>C (p.Asn574His) | |
11 | g.47342044C>A | CA380324264 | MYBPC3 | c.1737G>T (p.Lys579Asn) c.1719G>T (p.Lys573Asn) | |
11 | g.47342044C>G | CA380324265 | MYBPC3 | c.1737G>C (p.Lys579Asn) c.1719G>C (p.Lys573Asn) | |
11 | g.47342044C>T | CA474218802 | MYBPC3 | c.1737G>A (p.Lys579=) c.1719G>A (p.Lys573=) | |
11 | g.47342045T>A | CA380324268 | MYBPC3 | c.1736A>T (p.Lys579Met) c.1718A>T (p.Lys573Met) | |
11 | g.47342045T>C | CA380324267 | MYBPC3 | c.1736A>G (p.Lys579Arg) c.1718A>G (p.Lys573Arg) | gnomAD v4 |
11 | g.47342045T>G | CA380324266 | MYBPC3 | c.1736A>C (p.Lys579Thr) c.1718A>C (p.Lys573Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342045T= | CA1969335321 | MYBPC3 | c.1736A= (p.Lys579=) c.1718A= (p.Lys573=) | |
11 | g.47342046T>A | CA380324269 | MYBPC3 | c.1735A>T (p.Lys579Ter) c.1717A>T (p.Lys573Ter) | |
11 | g.47342046T>C | CA380324270 | MYBPC3 | c.1735A>G (p.Lys579Glu) c.1717A>G (p.Lys573Glu) | |
11 | g.47342046T>G | CA380324271 | MYBPC3 | c.1735A>C (p.Lys579Gln) c.1717A>C (p.Lys573Gln) | |
11 | g.47342046_47342047delinsTC | CA1969335322 | MYBPC3 | c.1734_1735delinsGA (p.Leu578=) c.1716_1717delinsGA (p.Leu572=) | |
11 | g.47342047del | CA011021 | MYBPC3 | c.1734del (p.Lys579ArgfsTer12) c.1716del (p.Lys573ArgfsTer12) | ClinVar dbSNP |
11 | g.47342047C>A | CA474218814 | MYBPC3 | c.1734G>T (p.Leu578=) c.1716G>T (p.Leu572=) | |
11 | g.47342047C>G | CA474218809 | MYBPC3 | c.1734G>C (p.Leu578=) c.1716G>C (p.Leu572=) | |
11 | g.47342047C>T | CA474218812 | MYBPC3 | c.1734G>A (p.Leu578=) c.1716G>A (p.Leu572=) | gnomAD v4 COSMIC COSMIC |
11 | g.47342048A>C | CA380324272 | MYBPC3 | c.1733T>G (p.Leu578Arg) c.1715T>G (p.Leu572Arg) | |
11 | g.47342048A>G | CA380324273 | MYBPC3 | c.1733T>C (p.Leu578Pro) c.1715T>C (p.Leu572Pro) | |
11 | g.47342048A>T | CA380324274 | MYBPC3 | c.1733T>A (p.Leu578Gln) c.1715T>A (p.Leu572Gln) | |
11 | g.47342049G>A | CA078276 | MYBPC3 | c.1732C>T (p.Leu578=) c.1714C>T (p.Leu572=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47342049G>C | CA380324276 | MYBPC3 | c.1732C>G (p.Leu578Val) c.1714C>G (p.Leu572Val) | |
11 | g.47342049G= | CA1969335325 | MYBPC3 | c.1732C= (p.Leu578=) c.1714C= (p.Leu572=) | |
11 | g.47342049G>T | CA380324275 | MYBPC3 | c.1732C>A (p.Leu578Met) c.1714C>A (p.Leu572Met) | |
11 | g.47342050C>A | CA380324277 | MYBPC3 | c.1731G>T (p.Trp577Cys) c.1713G>T (p.Trp571Cys) | |
11 | g.47342050C= | CA1969335327 | MYBPC3 | c.1731G= (p.Trp577=) c.1713G= (p.Trp571=) | |
11 | g.47342050C>G | CA380324278 | MYBPC3 | c.1731G>C (p.Trp577Cys) c.1713G>C (p.Trp571Cys) | |
11 | g.47342050C>T | CA011017 | MYBPC3 | c.1731G>A (p.Trp577Ter) c.1713G>A (p.Trp571Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342050_47342052delinsCCA | CA1969335328 | MYBPC3 | c.1729_1731delinsTGG (p.Trp577=) c.1711_1713delinsTGG (p.Trp571=) | |
11 | g.47342051C>A | CA380324279 | MYBPC3 | c.1730G>T (p.Trp577Leu) c.1712G>T (p.Trp571Leu) | |
11 | g.47342051C= | CA1969335330 | MYBPC3 | c.1730G= (p.Trp577=) c.1712G= (p.Trp571=) | |
11 | g.47342051C>G | CA380324280 | MYBPC3 | c.1730G>C (p.Trp577Ser) c.1712G>C (p.Trp571Ser) | |
11 | g.47342051C>T | CA380324281 | MYBPC3 | c.1730G>A (p.Trp577Ter) c.1712G>A (p.Trp571Ter) | ClinVar dbSNP |
11 | g.47342056_47342057del | CA891842476 | MYBPC3 | c.1729_1730del (p.Trp577AlafsTer27) c.1711_1712del (p.Trp571AlafsTer27) | ClinVar dbSNP |
11 | g.47342052A>C | CA380324282 | MYBPC3 | c.1729T>G (p.Trp577Gly) c.1711T>G (p.Trp571Gly) | |
11 | g.47342052A>G | CA380324283 | MYBPC3 | c.1729T>C (p.Trp577Arg) c.1711T>C (p.Trp571Arg) | |
11 | g.47342052A>T | CA380324284 | MYBPC3 | c.1729T>A (p.Trp577Arg) c.1711T>A (p.Trp571Arg) | |
11 | g.47342053C>A | CA474218831 | MYBPC3 | c.1728G>T (p.Val576=) c.1710G>T (p.Val570=) | |
11 | g.47342053C>G | CA474218833 | MYBPC3 | c.1728G>C (p.Val576=) c.1710G>C (p.Val570=) | |
11 | g.47342053C>T | CA474218836 | MYBPC3 | c.1728G>A (p.Val576=) c.1710G>A (p.Val570=) | |
11 | g.47342054A>C | CA380324285 | MYBPC3 | c.1727T>G (p.Val576Gly) c.1709T>G (p.Val570Gly) | |
11 | g.47342054A>G | CA380324286 | MYBPC3 | c.1727T>C (p.Val576Ala) c.1709T>C (p.Val570Ala) | |
11 | g.47342054A>T | CA380324287 | MYBPC3 | c.1727T>A (p.Val576Glu) c.1709T>A (p.Val570Glu) | |
11 | g.47342055C>A | CA380324288 | MYBPC3 | c.1726G>T (p.Val576Leu) c.1708G>T (p.Val570Leu) | |
11 | g.47342055C= | CA1969335332 | MYBPC3 | c.1726G= (p.Val576=) c.1708G= (p.Val570=) | |
11 | g.47342055C>G | CA380324289 | MYBPC3 | c.1726G>C (p.Val576Leu) c.1708G>C (p.Val570Leu) | |
11 | g.47342055C>T | CA078274 | MYBPC3 | c.1726G>A (p.Val576Met) c.1708G>A (p.Val570Met) | dbSNP ExAC gnomAD v2 |
11 | g.47342056A>C | CA474218844 | MYBPC3 | c.1725T>G (p.Gly575=) c.1707T>G (p.Gly569=) | |
11 | g.47342056A>G | CA474218842 | MYBPC3 | c.1725T>C (p.Gly575=) c.1707T>C (p.Gly569=) | |
11 | g.47342056A>T | CA474218841 | MYBPC3 | c.1725T>A (p.Gly575=) c.1707T>A (p.Gly569=) | |
11 | g.47342057C>A | CA380324290 | MYBPC3 | c.1724G>T (p.Gly575Val) c.1706G>T (p.Gly569Val) | dbSNP gnomAD v4 |
11 | g.47342057C= | CA1969335333 | MYBPC3 | c.1724G= (p.Gly575=) c.1706G= (p.Gly569=) | |
11 | g.47342057C>G | CA380324291 | MYBPC3 | c.1724G>C (p.Gly575Ala) c.1706G>C (p.Gly569Ala) | |
11 | g.47342057C>T | CA380324292 | MYBPC3 | c.1724G>A (p.Gly575Asp) c.1706G>A (p.Gly569Asp) | |
11 | g.47342060del | CA2739270440 | MYBPC3 | c.1724del (p.Gly575ValfsTer4) c.1706del (p.Gly569ValfsTer4) | ClinVar |
11 | g.47342058C>A | CA380324293 | MYBPC3 | c.1723G>T (p.Gly575Cys) c.1705G>T (p.Gly569Cys) | |
11 | g.47342058C>G | CA380324294 | MYBPC3 | c.1723G>C (p.Gly575Arg) c.1705G>C (p.Gly569Arg) | |
11 | g.47342058C>T | CA046514 | MYBPC3 | c.1723G>A (p.Gly575Ser) c.1705G>A (p.Gly569Ser) | COSMIC COSMIC |
11 | g.47342059C>A | CA474218855 | MYBPC3 | c.1722G>T (p.Arg574=) c.1704G>T (p.Arg568=) | |
11 | g.47342059C>G | CA474218857 | MYBPC3 | c.1722G>C (p.Arg574=) c.1704G>C (p.Arg568=) | |
11 | g.47342059C>T | CA474218859 | MYBPC3 | c.1722G>A (p.Arg574=) c.1704G>A (p.Arg568=) | COSMIC COSMIC |
11 | g.47342060C>A | CA380324296 | MYBPC3 | c.1721G>T (p.Arg574Leu) c.1703G>T (p.Arg568Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342060C= | CA1969335336 | MYBPC3 | c.1721G= (p.Arg574=) c.1703G= (p.Arg568=) | |
11 | g.47342060C>G | CA380324295 | MYBPC3 | c.1721G>C (p.Arg574Pro) c.1703G>C (p.Arg568Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342060C>T | CA011002 | MYBPC3 | c.1721G>A (p.Arg574Gln) c.1703G>A (p.Arg568Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342061G>A | CA010995 | MYBPC3 | c.1720C>T (p.Arg574Trp) c.1702C>T (p.Arg568Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342061G>C | CA380324297 | MYBPC3 | c.1720C>G (p.Arg574Gly) c.1702C>G (p.Arg568Gly) | dbSNP |
11 | g.47342061G= | CA1969335339 | MYBPC3 | c.1720C= (p.Arg574=) c.1702C= (p.Arg568=) | |
11 | g.47342061G>T | CA010986 | MYBPC3 | c.1720C>A (p.Arg574=) c.1702C>A (p.Arg568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342062A= | CA1969335344 | MYBPC3 | c.1719T= (p.Val573=) c.1701T= (p.Val567=) | |
11 | g.47342062A>C | CA010977 | MYBPC3 | c.1719T>G (p.Val573=) c.1701T>G (p.Val567=) | ClinVar dbSNP |
11 | g.47342062A>G | CA474218868 | MYBPC3 | c.1719T>C (p.Val573=) c.1701T>C (p.Val567=) | ClinVar dbSNP |
11 | g.47342062A>T | CA010969 | MYBPC3 | c.1719T>A (p.Val573=) c.1701T>A (p.Val567=) | ClinVar dbSNP gnomAD v4 |
11 | g.47342063A>C | CA380324298 | MYBPC3 | c.1718T>G (p.Val573Gly) c.1700T>G (p.Val567Gly) | |
11 | g.47342063A>G | CA380324300 | MYBPC3 | c.1718T>C (p.Val573Ala) c.1700T>C (p.Val567Ala) | |
11 | g.47342063A>T | CA380324299 | MYBPC3 | c.1718T>A (p.Val573Asp) c.1700T>A (p.Val567Asp) | |
11 | g.47342064C>A | CA380324301 | MYBPC3 | c.1717G>T (p.Val573Phe) c.1699G>T (p.Val567Phe) | |
11 | g.47342064C>G | CA380324302 | MYBPC3 | c.1717G>C (p.Val573Leu) c.1699G>C (p.Val567Leu) | |
11 | g.47342064C>T | CA380324303 | MYBPC3 | c.1717G>A (p.Val573Ile) c.1699G>A (p.Val567Ile) | ClinVar |
11 | g.47342065A= | CA1969335347 | MYBPC3 | c.1716T= (p.Asn572=) c.1698T= (p.Asn566=) | |
11 | g.47342065A>C | CA380324304 | MYBPC3 | c.1716T>G (p.Asn572Lys) c.1698T>G (p.Asn566Lys) | |
11 | g.47342065A>G | CA474218889 | MYBPC3 | c.1716T>C (p.Asn572=) c.1698T>C (p.Asn566=) | ClinVar dbSNP gnomAD v4 |
11 | g.47342065A>T | CA380324305 | MYBPC3 | c.1716T>A (p.Asn572Lys) c.1698T>A (p.Asn566Lys) | dbSNP gnomAD v2 |
11 | g.47342066T>A | CA380324306 | MYBPC3 | c.1715A>T (p.Asn572Ile) c.1697A>T (p.Asn566Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342066T>C | CA380324307 | MYBPC3 | c.1715A>G (p.Asn572Ser) c.1697A>G (p.Asn566Ser) | |
11 | g.47342066T>G | CA380324308 | MYBPC3 | c.1715A>C (p.Asn572Thr) c.1697A>C (p.Asn566Thr) | |
11 | g.47342066T= | CA1969335349 | MYBPC3 | c.1715A= (p.Asn572=) c.1697A= (p.Asn566=) | |
11 | g.47342067T>A | CA380324309 | MYBPC3 | c.1714A>T (p.Asn572Tyr) c.1696A>T (p.Asn566Tyr) | |
11 | g.47342067T>C | CA380324310 | MYBPC3 | c.1714A>G (p.Asn572Asp) c.1696A>G (p.Asn566Asp) | ClinVar |
11 | g.47342067T>G | CA380324311 | MYBPC3 | c.1714A>C (p.Asn572His) c.1696A>C (p.Asn566His) | |
11 | g.47342068C>A | CA380324312 | MYBPC3 | c.1713G>T (p.Glu571Asp) c.1695G>T (p.Glu565Asp) | |
11 | g.47342068C= | CA1969335350 | MYBPC3 | c.1713G= (p.Glu571=) c.1695G= (p.Glu565=) | |
11 | g.47342068C>G | CA380324313 | MYBPC3 | c.1713G>C (p.Glu571Asp) c.1695G>C (p.Glu565Asp) | |
11 | g.47342068C>T | CA16613619 | MYBPC3 | c.1713G>A (p.Glu571=) c.1695G>A (p.Glu565=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342069T>A | CA380324314 | MYBPC3 | c.1712A>T (p.Glu571Val) c.1694A>T (p.Glu565Val) | |
11 | g.47342069T>C | CA380324316 | MYBPC3 | c.1712A>G (p.Glu571Gly) c.1694A>G (p.Glu565Gly) | |
11 | g.47342069T>G | CA380324315 | MYBPC3 | c.1712A>C (p.Glu571Ala) c.1694A>C (p.Glu565Ala) | |
11 | g.47342070C>A | CA380324317 | MYBPC3 | c.1711G>T (p.Glu571Ter) c.1693G>T (p.Glu565Ter) | ClinVar |
11 | g.47342070C>G | CA380324319 | MYBPC3 | c.1711G>C (p.Glu571Gln) c.1693G>C (p.Glu565Gln) | |
11 | g.47342070C>T | CA380324318 | MYBPC3 | c.1711G>A (p.Glu571Lys) c.1693G>A (p.Glu565Lys) | |
11 | g.47342071A>C | CA380324320 | MYBPC3 | c.1710T>G (p.Asp570Glu) c.1692T>G (p.Asp564Glu) | gnomAD v4 |
11 | g.47342071A>G | CA474218912 | MYBPC3 | c.1710T>C (p.Asp570=) c.1692T>C (p.Asp564=) | |
11 | g.47342071A>T | CA380324321 | MYBPC3 | c.1710T>A (p.Asp570Glu) c.1692T>A (p.Asp564Glu) | |
11 | g.47342071_47342073delinsATC | CA1969335352 | MYBPC3 | c.1708_1710delinsGAT (p.Asp570=) c.1690_1692delinsGAT (p.Asp564=) | |
11 | g.47342072T>A | CA380324322 | MYBPC3 | c.1709A>T (p.Asp570Val) c.1691A>T (p.Asp564Val) | |
11 | g.47342072T>C | CA380324323 | MYBPC3 | c.1709A>G (p.Asp570Gly) c.1691A>G (p.Asp564Gly) | ClinVar |
11 | g.47342072T>G | CA380324324 | MYBPC3 | c.1709A>C (p.Asp570Ala) c.1691A>C (p.Asp564Ala) | gnomAD v4 |
11 | g.47342072dup | CA2695212784 | MYBPC3 | c.1709dup (p.Asp570GlufsTer2) c.1691dup (p.Asp564GlufsTer2) | |
11 | g.47342073_47342074del | CA1969335353 | MYBPC3 | c.1708_1709del (p.Asp570Ter) c.1690_1691del (p.Asp564Ter) | dbSNP |
11 | g.47342073C>A | CA380324325 | MYBPC3 | c.1708G>T (p.Asp570Tyr) c.1690G>T (p.Asp564Tyr) | |
11 | g.47342073C>G | CA380324326 | MYBPC3 | c.1708G>C (p.Asp570His) c.1690G>C (p.Asp564His) | |
11 | g.47342073C>T | CA380324327 | MYBPC3 | c.1708G>A (p.Asp570Asn) c.1690G>A (p.Asp564Asn) | ClinVar gnomAD v4 |
11 | g.47342074T>A | CA474218917 | MYBPC3 | c.1707A>T (p.Ser569=) c.1689A>T (p.Ser563=) | dbSNP |
11 | g.47342074T>C | CA474218922 | MYBPC3 | c.1707A>G (p.Ser569=) c.1689A>G (p.Ser563=) | |
11 | g.47342074T>G | CA474218923 | MYBPC3 | c.1707A>C (p.Ser569=) c.1689A>C (p.Ser563=) | |
11 | g.47342074T= | CA1969335354 | MYBPC3 | c.1707A= (p.Ser569=) c.1689A= (p.Ser563=) | |
11 | g.47342075G>A | CA380324328 | MYBPC3 | c.1706C>T (p.Ser569Leu) c.1688C>T (p.Ser563Leu) | |
11 | g.47342075G>C | CA380324329 | MYBPC3 | c.1706C>G (p.Ser569Ter) c.1688C>G (p.Ser563Ter) | |
11 | g.47342075G>T | CA380324330 | MYBPC3 | c.1706C>A (p.Ser569Ter) c.1688C>A (p.Ser563Ter) | |
11 | g.47342076A>C | CA380324333 | MYBPC3 | c.1705T>G (p.Ser569Ala) c.1687T>G (p.Ser563Ala) | |
11 | g.47342076A>G | CA380324332 | MYBPC3 | c.1705T>C (p.Ser569Pro) c.1687T>C (p.Ser563Pro) | |
11 | g.47342076A>T | CA380324331 | MYBPC3 | c.1705T>A (p.Ser569Thr) c.1687T>A (p.Ser563Thr) | |
11 | g.47342077G>A | CA474218931 | MYBPC3 | c.1704C>T (p.Val568=) c.1686C>T (p.Val562=) | COSMIC COSMIC |
11 | g.47342077G>C | CA474218930 | MYBPC3 | c.1704C>G (p.Val568=) c.1686C>G (p.Val562=) | |
11 | g.47342077G>T | CA474218929 | MYBPC3 | c.1704C>A (p.Val568=) c.1686C>A (p.Val562=) | |
11 | g.47342078A>C | CA380324334 | MYBPC3 | c.1703T>G (p.Val568Gly) c.1685T>G (p.Val562Gly) | |
11 | g.47342078A>G | CA380324335 | MYBPC3 | c.1703T>C (p.Val568Ala) c.1685T>C (p.Val562Ala) | |
11 | g.47342078A>T | CA380324336 | MYBPC3 | c.1703T>A (p.Val568Asp) c.1685T>A (p.Val562Asp) | ClinVar dbSNP |
11 | g.47342079C>A | CA380324337 | MYBPC3 | c.1702G>T (p.Val568Phe) c.1684G>T (p.Val562Phe) | |
11 | g.47342079C= | CA1969335356 | MYBPC3 | c.1702G= (p.Val568=) c.1684G= (p.Val562=) | |
11 | g.47342079C>G | CA380324338 | MYBPC3 | c.1702G>C (p.Val568Leu) c.1684G>C (p.Val562Leu) | |
11 | g.47342079C>T | CA380324339 | MYBPC3 | c.1702G>A (p.Val568Ile) c.1684G>A (p.Val562Ile) | ClinVar dbSNP |
11 | g.47342079_47342081delinsCCT | CA1969335355 | MYBPC3 | c.1700_1702delinsAGG (p.Glu567=) c.1682_1684delinsAGG (p.Glu561=) | |
11 | g.47342080C>A | CA380324340 | MYBPC3 | c.1701G>T (p.Glu567Asp) c.1683G>T (p.Glu561Asp) | |
11 | g.47342080C>G | CA380324341 | MYBPC3 | c.1701G>C (p.Glu567Asp) c.1683G>C (p.Glu561Asp) | |
11 | g.47342080C>T | CA474218942 | MYBPC3 | c.1701G>A (p.Glu567=) c.1683G>A (p.Glu561=) | dbSNP gnomAD v4 |
11 | g.47342080delinsATTCAAAGGTGT | CA913187806 | MYBPC3 | c.1701delinsACACCTTTGAAT (p.Val568HisfsTer3) c.1683delinsACACCTTTGAAT (p.Val562HisfsTer3) | ClinVar |
11 | g.47342081_47342082del | CA010952 | MYBPC3 | c.1700_1701del (p.Glu567GlyfsTer4) c.1682_1683del (p.Glu561GlyfsTer4) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342081T>A | CA380324342 | MYBPC3 | c.1700A>T (p.Glu567Val) c.1682A>T (p.Glu561Val) | |
11 | g.47342081T>C | CA380324343 | MYBPC3 | c.1700A>G (p.Glu567Gly) c.1682A>G (p.Glu561Gly) | |
11 | g.47342081T>G | CA380324344 | MYBPC3 | c.1700A>C (p.Glu567Ala) c.1682A>C (p.Glu561Ala) | |
11 | g.47342082C>A | CA380324347 | MYBPC3 | c.1699G>T (p.Glu567Ter) c.1681G>T (p.Glu561Ter) | ClinVar |
11 | g.47342082C>G | CA380324346 | MYBPC3 | c.1699G>C (p.Glu567Gln) c.1681G>C (p.Glu561Gln) | |
11 | g.47342082C>T | CA380324345 | MYBPC3 | c.1699G>A (p.Glu567Lys) c.1681G>A (p.Glu561Lys) | gnomAD v4 |
11 | g.47342082_47342097delinsCACATTTGAACACCGC | CA1969335358 | MYBPC3 | c.1684_1699delinsGCGGTGTTCAAATGTG (p.Ala562=) c.1666_1681delinsGCGGTGTTCAAATGTG (p.Ala556=) | |
11 | g.47342083A>C | CA380324349 | MYBPC3 | c.1698T>G (p.Cys566Trp) c.1680T>G (p.Cys560Trp) | |
11 | g.47342083A>G | CA474218955 | MYBPC3 | c.1698T>C (p.Cys566=) c.1680T>C (p.Cys560=) | |
11 | g.47342083A>T | CA380324348 | MYBPC3 | c.1698T>A (p.Cys566Ter) c.1680T>A (p.Cys560Ter) | |
11 | g.47342083_47342097delinsCTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG | CA915948156 | MYBPC3 | c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562ProfsTer34) c.1666_1680delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala556ProfsTer34) | ClinVar dbSNP |
11 | g.47342084C>A | CA380324350 | MYBPC3 | c.1697G>T (p.Cys566Phe) c.1679G>T (p.Cys560Phe) | |
11 | g.47342084C= | CA1969335360 | MYBPC3 | c.1697G= (p.Cys566=) c.1679G= (p.Cys560=) | |
11 | g.47342084C>G | CA380324351 | MYBPC3 | c.1697G>C (p.Cys566Ser) c.1679G>C (p.Cys560Ser) | |
11 | g.47342084C>T | CA221694999 | MYBPC3 | c.1697G>A (p.Cys566Tyr) c.1679G>A (p.Cys560Tyr) | dbSNP |
11 | g.47342085A= | CA1969335362 | MYBPC3 | c.1696T= (p.Cys566=) c.1678T= (p.Cys560=) | |
11 | g.47342085A>C | CA380324352 | MYBPC3 | c.1696T>G (p.Cys566Gly) c.1678T>G (p.Cys560Gly) | |
11 | g.47342085A>G | CA010945 | MYBPC3 | c.1696T>C (p.Cys566Arg) c.1678T>C (p.Cys560Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47342085A>T | CA380324353 | MYBPC3 | c.1696T>A (p.Cys566Ser) c.1678T>A (p.Cys560Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47342086T>A | CA380324354 | MYBPC3 | c.1695A>T (p.Lys565Asn) c.1677A>T (p.Lys559Asn) | |
11 | g.47342086T>C | CA474218964 | MYBPC3 | c.1695A>G (p.Lys565=) c.1677A>G (p.Lys559=) | |
11 | g.47342086T>G | CA380324355 | MYBPC3 | c.1695A>C (p.Lys565Asn) c.1677A>C (p.Lys559Asn) | |
11 | g.47342087T>A | CA380324356 | MYBPC3 | c.1694A>T (p.Lys565Ile) c.1676A>T (p.Lys559Ile) | |
11 | g.47342087T>C | CA380324357 | MYBPC3 | c.1694A>G (p.Lys565Arg) c.1676A>G (p.Lys559Arg) | ClinVar dbSNP |
11 | g.47342087T>G | CA380324358 | MYBPC3 | c.1694A>C (p.Lys565Thr) c.1676A>C (p.Lys559Thr) | |
11 | g.47342087T= | CA1969335364 | MYBPC3 | c.1694A= (p.Lys565=) c.1676A= (p.Lys559=) | |
11 | g.47342088T>A | CA010936 | MYBPC3 | c.1693A>T (p.Lys565Ter) c.1675A>T (p.Lys559Ter) | ClinVar dbSNP |
11 | g.47342088T>C | CA380324360 | MYBPC3 | c.1693A>G (p.Lys565Glu) c.1675A>G (p.Lys559Glu) | |
11 | g.47342088T>G | CA380324359 | MYBPC3 | c.1693A>C (p.Lys565Gln) c.1675A>C (p.Lys559Gln) | |
11 | g.47342088T= | CA1969335365 | MYBPC3 | c.1693A= (p.Lys565=) c.1675A= (p.Lys559=) | |
11 | g.47342089G>A | CA474218972 | MYBPC3 | c.1692C>T (p.Phe564=) c.1674C>T (p.Phe558=) | |
11 | g.47342089G>C | CA380324361 | MYBPC3 | c.1692C>G (p.Phe564Leu) c.1674C>G (p.Phe558Leu) | ClinVar |
11 | g.47342089G>T | CA380324362 | MYBPC3 | c.1692C>A (p.Phe564Leu) c.1674C>A (p.Phe558Leu) | ClinVar |
11 | g.47342090A>C | CA380324363 | MYBPC3 | c.1691T>G (p.Phe564Cys) c.1673T>G (p.Phe558Cys) | |
11 | g.47342090A>G | CA380324364 | MYBPC3 | c.1691T>C (p.Phe564Ser) c.1673T>C (p.Phe558Ser) | |
11 | g.47342090A>T | CA380324365 | MYBPC3 | c.1691T>A (p.Phe564Tyr) c.1673T>A (p.Phe558Tyr) | |
11 | g.47342090_47342183del | CA273865 | MYBPC3 | c.1625-27_1691del c.1607-27_1673del | |
11 | g.47342091A>C | CA380324366 | MYBPC3 | c.1690T>G (p.Phe564Val) c.1672T>G (p.Phe558Val) | |
11 | g.47342091A>G | CA380324367 | MYBPC3 | c.1690T>C (p.Phe564Leu) c.1672T>C (p.Phe558Leu) | gnomAD v4 |
11 | g.47342091A>T | CA380324368 | MYBPC3 | c.1690T>A (p.Phe564Ile) c.1672T>A (p.Phe558Ile) | |
11 | g.47342092C>A | CA474218975 | MYBPC3 | c.1689G>T (p.Val563=) c.1671G>T (p.Val557=) | |
11 | g.47342092C= | CA1969335367 | MYBPC3 | c.1689G= (p.Val563=) c.1671G= (p.Val557=) | |
11 | g.47342092C>G | CA474218974 | MYBPC3 | c.1689G>C (p.Val563=) c.1671G>C (p.Val557=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47342092C>T | CA078269 | MYBPC3 | c.1689G>A (p.Val563=) c.1671G>A (p.Val557=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47342093A>C | CA380324369 | MYBPC3 | c.1688T>G (p.Val563Gly) c.1670T>G (p.Val557Gly) | |
11 | g.47342093A>G | CA380324370 | MYBPC3 | c.1688T>C (p.Val563Ala) c.1670T>C (p.Val557Ala) | |
11 | g.47342093A>T | CA380324371 | MYBPC3 | c.1688T>A (p.Val563Glu) c.1670T>A (p.Val557Glu) | |
11 | g.47342093_47342094delinsAC | CA1969335368 | MYBPC3 | c.1687_1688delinsGT (p.Val563=) c.1669_1670delinsGT (p.Val557=) | |
11 | g.47342094C>A | CA380324374 | MYBPC3 | c.1687G>T (p.Val563Leu) c.1669G>T (p.Val557Leu) | ClinVar dbSNP |
11 | g.47342094C>G | CA380324373 | MYBPC3 | c.1687G>C (p.Val563Leu) c.1669G>C (p.Val557Leu) | |
11 | g.47342094C>T | CA380324372 | MYBPC3 | c.1687G>A (p.Val563Met) c.1669G>A (p.Val557Met) | ClinVar dbSNP |
11 | g.47342095del | CA10581160 | MYBPC3 | c.1687del (p.Val563CysfsTer16) c.1669del (p.Val557CysfsTer16) | ClinVar dbSNP |
11 | g.47342095C>A | CA474218980 | MYBPC3 | c.1686G>T (p.Ala562=) c.1668G>T (p.Ala556=) | ClinVar dbSNP |
11 | g.47342095C= | CA1969335372 | MYBPC3 | c.1686G= (p.Ala562=) c.1668G= (p.Ala556=) | |
11 | g.47342095C>G | CA474218981 | MYBPC3 | c.1686G>C (p.Ala562=) c.1668G>C (p.Ala556=) | |
11 | g.47342095C>T | CA046469 | MYBPC3 | c.1686G>A (p.Ala562=) c.1668G>A (p.Ala556=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342096G>A | CA078267 | MYBPC3 | c.1685C>T (p.Ala562Val) c.1667C>T (p.Ala556Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47342096G>C | CA380324375 | MYBPC3 | c.1685C>G (p.Ala562Gly) c.1667C>G (p.Ala556Gly) | |
11 | g.47342096G= | CA1969335375 | MYBPC3 | c.1685C= (p.Ala562=) c.1667C= (p.Ala556=) | |
11 | g.47342096G>T | CA010925 | MYBPC3 | c.1685C>A (p.Ala562Glu) c.1667C>A (p.Ala556Glu) | ClinVar dbSNP |
11 | g.47342097C>A | CA380324376 | MYBPC3 | c.1684G>T (p.Ala562Ser) c.1666G>T (p.Ala556Ser) | |
11 | g.47342097C= | CA1969335376 | MYBPC3 | c.1684G= (p.Ala562=) c.1666G= (p.Ala556=) | |
11 | g.47342097C>G | CA380324377 | MYBPC3 | c.1684G>C (p.Ala562Pro) c.1666G>C (p.Ala556Pro) | |
11 | g.47342097C>T | CA010915 | MYBPC3 | c.1684G>A (p.Ala562Thr) c.1666G>A (p.Ala556Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47342098C>A | CA380324378 | MYBPC3 | c.1683G>T (p.Gln561His) c.1665G>T (p.Gln555His) | |
11 | g.47342098C>G | CA380324379 | MYBPC3 | c.1683G>C (p.Gln561His) c.1665G>C (p.Gln555His) | |
11 | g.47342098C>T | CA046461 | MYBPC3 | c.1683G>A (p.Gln561=) c.1665G>A (p.Gln555=) | |
11 | g.47342099T>A | CA380324380 | MYBPC3 | c.1682A>T (p.Gln561Leu) c.1664A>T (p.Gln555Leu) | |
11 | g.47342099T>C | CA380324381 | MYBPC3 | c.1682A>G (p.Gln561Arg) c.1664A>G (p.Gln555Arg) | |
11 | g.47342099T>G | CA380324382 | MYBPC3 | c.1682A>C (p.Gln561Pro) c.1664A>C (p.Gln555Pro) | |
11 | g.47342100G>A | CA380324383 | MYBPC3 | c.1681C>T (p.Gln561Ter) c.1663C>T (p.Gln555Ter) | |
11 | g.47342100G>C | CA380324384 | MYBPC3 | c.1681C>G (p.Gln561Glu) c.1663C>G (p.Gln555Glu) | |
11 | g.47342100G>T | CA380324385 | MYBPC3 | c.1681C>A (p.Gln561Lys) c.1663C>A (p.Gln555Lys) | |
11 | g.47342101G>A | CA474218987 | MYBPC3 | c.1680C>T (p.Asp560=) c.1662C>T (p.Asp554=) | COSMIC COSMIC |
11 | g.47342101G>C | CA380324386 | MYBPC3 | c.1680C>G (p.Asp560Glu) c.1662C>G (p.Asp554Glu) | |
11 | g.47342101G>T | CA380324387 | MYBPC3 | c.1680C>A (p.Asp560Glu) c.1662C>A (p.Asp554Glu) | |
11 | g.47342102T>A | CA380324388 | MYBPC3 | c.1679A>T (p.Asp560Val) c.1661A>T (p.Asp554Val) | ClinVar |
11 | g.47342102T>C | CA380324389 | MYBPC3 | c.1679A>G (p.Asp560Gly) c.1661A>G (p.Asp554Gly) | |
11 | g.47342102T>G | CA380324390 | MYBPC3 | c.1679A>C (p.Asp560Ala) c.1661A>C (p.Asp554Ala) | |
11 | g.47342102_47342103delinsTC | CA1969335378 | MYBPC3 | c.1678_1679delinsGA (p.Asp560=) c.1660_1661delinsGA (p.Asp554=) |