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.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 |