Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812298G>A | CA251408 | RBM20 | c.1901G>A (p.Arg634Gln) c.1517G>A (p.Arg506Gln) c.1736G>A (p.Arg579Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.110812298G>C | CA378370290 | RBM20 | c.1901G>C (p.Arg634Pro) c.1517G>C (p.Arg506Pro) c.1736G>C (p.Arg579Pro) | |
10 | g.110812298G>T | CA378370292 | RBM20 | c.1901G>T (p.Arg634Leu) c.1517G>T (p.Arg506Leu) c.1736G>T (p.Arg579Leu) | ClinVar dbSNP gnomAD v4 |
10 | g.110812299G>A | CA471368039 | RBM20 | c.1902G>A (p.Arg634=) c.1518G>A (p.Arg506=) c.1737G>A (p.Arg579=) | |
10 | g.110812299G>C | CA471368038 | RBM20 | c.1902G>C (p.Arg634=) c.1518G>C (p.Arg506=) c.1737G>C (p.Arg579=) | |
10 | g.110812299G>T | CA471368037 | RBM20 | c.1902G>T (p.Arg634=) c.1518G>T (p.Arg506=) c.1737G>T (p.Arg579=) | |
10 | g.110812300T>A | CA378370298 | RBM20 | c.1903T>A (p.Ser635Thr) c.1519T>A (p.Ser507Thr) c.1738T>A (p.Ser580Thr) | |
10 | g.110812300T>C | CA378370296 | RBM20 | c.1903T>C (p.Ser635Pro) c.1519T>C (p.Ser507Pro) c.1738T>C (p.Ser580Pro) | ClinVar dbSNP |
10 | g.110812300T>G | CA378370294 | RBM20 | c.1903T>G (p.Ser635Ala) c.1519T>G (p.Ser507Ala) c.1738T>G (p.Ser580Ala) | |
10 | g.110812301C>A | CA378370300 | RBM20 | c.1904C>A (p.Ser635Tyr) c.1520C>A (p.Ser507Tyr) c.1739C>A (p.Ser580Tyr) | ClinVar dbSNP |
10 | g.110812301C>G | CA378370304 | RBM20 | c.1904C>G (p.Ser635Cys) c.1520C>G (p.Ser507Cys) c.1739C>G (p.Ser580Cys) | ClinVar dbSNP |
10 | g.110812301C>T | CA378370302 | RBM20 | c.1904C>T (p.Ser635Phe) c.1520C>T (p.Ser507Phe) c.1739C>T (p.Ser580Phe) | ClinVar |
10 | g.110812302T>A | CA471368040 | RBM20 | c.1905T>A (p.Ser635=) c.1521T>A (p.Ser507=) c.1740T>A (p.Ser580=) | |
10 | g.110812302T>C | CA471368041 | RBM20 | c.1905T>C (p.Ser635=) c.1521T>C (p.Ser507=) c.1740T>C (p.Ser580=) | |
10 | g.110812302T>G | CA471368042 | RBM20 | c.1905T>G (p.Ser635=) c.1521T>G (p.Ser507=) c.1740T>G (p.Ser580=) | |
10 | g.110812303C>A | CA251411 | RBM20 | c.1906C>A (p.Arg636Ser) c.1522C>A (p.Arg508Ser) c.1741C>A (p.Arg581Ser) | ClinVar dbSNP |
10 | g.110812303C>G | CA378370307 | RBM20 | c.1906C>G (p.Arg636Gly) c.1522C>G (p.Arg508Gly) c.1741C>G (p.Arg581Gly) | |
10 | g.110812303C>T | CA133286 | RBM20 | c.1906C>T (p.Arg636Cys) c.1522C>T (p.Arg508Cys) c.1741C>T (p.Arg581Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812304G>A | CA251414 | RBM20 | c.1907G>A (p.Arg636His) c.1523G>A (p.Arg508His) c.1742G>A (p.Arg581His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812304G>C | CA378370310 | RBM20 | c.1907G>C (p.Arg636Pro) c.1523G>C (p.Arg508Pro) c.1742G>C (p.Arg581Pro) | |
10 | g.110812304G>T | CA378370312 | RBM20 | c.1907G>T (p.Arg636Leu) c.1523G>T (p.Arg508Leu) c.1742G>T (p.Arg581Leu) | ClinVar |
10 | g.110812304_110812306delinsTTG | CA2697558787 | RBM20 | c.1907_1909delinsTTG (p.Arg636_Ser637delinsLeuGly) c.1523_1525delinsTTG (p.Arg508_Ser509delinsLeuGly) c.1742_1744delinsTTG (p.Arg581_Ser582delinsLeuGly) | ClinVar |
10 | g.110812306_110812308del | CA335588 | RBM20 | c.1909_1911del (p.Ser637del) c.1525_1527del (p.Ser509del) c.1744_1746del (p.Ser582del) | ClinVar dbSNP |
10 | g.110812305T>A | CA471368043 | RBM20 | c.1908T>A (p.Arg636=) c.1524T>A (p.Arg508=) c.1743T>A (p.Arg581=) | |
10 | g.110812305T>C | CA471368044 | RBM20 | c.1908T>C (p.Arg636=) c.1524T>C (p.Arg508=) c.1743T>C (p.Arg581=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812305T>G | CA471368045 | RBM20 | c.1908T>G (p.Arg636=) c.1524T>G (p.Arg508=) c.1743T>G (p.Arg581=) | |
10 | g.110812306A>C | CA378370315 | RBM20 | c.1909A>C (p.Ser637Arg) c.1525A>C (p.Ser509Arg) c.1744A>C (p.Ser582Arg) | |
10 | g.110812306A>G | CA251417 | RBM20 | c.1909A>G (p.Ser637Gly) c.1525A>G (p.Ser509Gly) c.1744A>G (p.Ser582Gly) | ClinVar dbSNP |
10 | g.110812306A>T | CA378370317 | RBM20 | c.1909A>T (p.Ser637Cys) c.1525A>T (p.Ser509Cys) c.1744A>T (p.Ser582Cys) | |
10 | g.110812307G>A | CA335547 | RBM20 | c.1910G>A (p.Ser637Asn) c.1526G>A (p.Ser509Asn) c.1745G>A (p.Ser582Asn) | ClinVar dbSNP |
10 | g.110812307G>C | CA378370320 | RBM20 | c.1910G>C (p.Ser637Thr) c.1526G>C (p.Ser509Thr) c.1745G>C (p.Ser582Thr) | |
10 | g.110812307G>T | CA378370322 | RBM20 | c.1910G>T (p.Ser637Ile) c.1526G>T (p.Ser509Ile) c.1745G>T (p.Ser582Ile) | |
10 | g.110812308T>A | CA378370324 | RBM20 | c.1911T>A (p.Ser637Arg) c.1527T>A (p.Ser509Arg) c.1746T>A (p.Ser582Arg) | |
10 | g.110812308T>C | CA471368046 | RBM20 | c.1911T>C (p.Ser637=) c.1527T>C (p.Ser509=) c.1746T>C (p.Ser582=) | gnomAD v4 |
10 | g.110812308T>G | CA378370325 | RBM20 | c.1911T>G (p.Ser637Arg) c.1527T>G (p.Ser509Arg) c.1746T>G (p.Ser582Arg) | ClinVar |
10 | g.110812309C>A | CA378370328 | RBM20 | c.1912C>A (p.Pro638Thr) c.1528C>A (p.Pro510Thr) c.1747C>A (p.Pro583Thr) | |
10 | g.110812309C>G | CA378370330 | RBM20 | c.1912C>G (p.Pro638Ala) c.1528C>G (p.Pro510Ala) c.1747C>G (p.Pro583Ala) | ClinVar |
10 | g.110812309C>T | CA378370331 | RBM20 | c.1912C>T (p.Pro638Ser) c.1528C>T (p.Pro510Ser) c.1747C>T (p.Pro583Ser) | |
10 | g.110812309_110812310delinsTT | CA645568266 | RBM20 | c.1912_1913delinsTT (p.Pro638Leu) c.1528_1529delinsTT (p.Pro510Leu) c.1747_1748delinsTT (p.Pro583Leu) | COSMIC |
10 | g.110812310C>A | CA16042702 | RBM20 | c.1913C>A (p.Pro638Gln) c.1529C>A (p.Pro510Gln) c.1748C>A (p.Pro583Gln) | ClinVar dbSNP |
10 | g.110812310C>G | CA335549 | RBM20 | c.1913C>G (p.Pro638Arg) c.1529C>G (p.Pro510Arg) c.1748C>G (p.Pro583Arg) | ClinVar dbSNP |
10 | g.110812310C>T | CA251405 | RBM20 | c.1913C>T (p.Pro638Leu) c.1529C>T (p.Pro510Leu) c.1748C>T (p.Pro583Leu) | ClinVar dbSNP gnomAD v4 |
10 | g.110812311G>A | CA133289 | RBM20 | c.1914G>A (p.Pro638=) c.1530G>A (p.Pro510=) c.1749G>A (p.Pro583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812311G>C | CA471368047 | RBM20 | c.1914G>C (p.Pro638=) c.1530G>C (p.Pro510=) c.1749G>C (p.Pro583=) | |
10 | g.110812311G= | CA2580967529 | RBM20 | c.1914G= (p.Pro638=) c.1530G= (p.Pro510=) c.1749G= (p.Pro583=) | |
10 | g.110812311G>T | CA471368048 | RBM20 | c.1914G>T (p.Pro638=) c.1530G>T (p.Pro510=) c.1749G>T (p.Pro583=) | gnomAD v4 |
10 | g.110812312G>A | CA378370339 | RBM20 | c.1915G>A (p.Val639Met) c.1531G>A (p.Val511Met) c.1750G>A (p.Val584Met) | ClinVar dbSNP |
10 | g.110812312G>C | CA378370341 | RBM20 | c.1915G>C (p.Val639Leu) c.1531G>C (p.Val511Leu) c.1750G>C (p.Val584Leu) | |
10 | g.110812312G>T | CA378370343 | RBM20 | c.1915G>T (p.Val639Leu) c.1531G>T (p.Val511Leu) c.1750G>T (p.Val584Leu) | |
10 | g.110812313T>A | CA378370348 | RBM20 | c.1916T>A (p.Val639Glu) c.1532T>A (p.Val511Glu) c.1751T>A (p.Val584Glu) | gnomAD v4 |