Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
10 | g.110812313T>C | CA378370347 | RBM20 | c.1916T>C (p.Val639Ala) c.1532T>C (p.Val511Ala) c.1751T>C (p.Val584Ala) | |
10 | g.110812313T>G | CA378370345 | RBM20 | c.1916T>G (p.Val639Gly) c.1532T>G (p.Val511Gly) c.1751T>G (p.Val584Gly) | |
10 | g.110812314G>A | CA471368049 | RBM20 | c.1917G>A (p.Val639=) c.1533G>A (p.Val511=) c.1752G>A (p.Val584=) | |
10 | g.110812314G>C | CA471368050 | RBM20 | c.1917G>C (p.Val639=) c.1533G>C (p.Val511=) c.1752G>C (p.Val584=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812314G>T | CA471368051 | RBM20 | c.1917G>T (p.Val639=) c.1533G>T (p.Val511=) c.1752G>T (p.Val584=) | |
10 | g.110812315A>C | CA378370351 | RBM20 | c.1918A>C (p.Ser640Arg) c.1534A>C (p.Ser512Arg) c.1753A>C (p.Ser585Arg) | |
10 | g.110812315A>G | CA378370353 | RBM20 | c.1918A>G (p.Ser640Gly) c.1534A>G (p.Ser512Gly) c.1753A>G (p.Ser585Gly) | |
10 | g.110812315A>T | CA378370354 | RBM20 | c.1918A>T (p.Ser640Cys) c.1534A>T (p.Ser512Cys) c.1753A>T (p.Ser585Cys) | |
10 | g.110812316G>A | CA378370357 | RBM20 | c.1919G>A (p.Ser640Asn) c.1535G>A (p.Ser512Asn) c.1754G>A (p.Ser585Asn) | |
10 | g.110812316G>C | CA378370358 | RBM20 | c.1919G>C (p.Ser640Thr) c.1535G>C (p.Ser512Thr) c.1754G>C (p.Ser585Thr) | |
10 | g.110812316G>T | CA378370360 | RBM20 | c.1919G>T (p.Ser640Ile) c.1535G>T (p.Ser512Ile) c.1754G>T (p.Ser585Ile) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812317C>A | CA378370363 | RBM20 | c.1920C>A (p.Ser640Arg) c.1536C>A (p.Ser512Arg) c.1755C>A (p.Ser585Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812317C>G | CA378370365 | RBM20 | c.1920C>G (p.Ser640Arg) c.1536C>G (p.Ser512Arg) c.1755C>G (p.Ser585Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812317C>T | CA471368052 | RBM20 | c.1920C>T (p.Ser640=) c.1536C>T (p.Ser512=) c.1755C>T (p.Ser585=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812318C>A | CA471368053 | RBM20 | c.1921C>A (p.Arg641=) c.1537C>A (p.Arg513=) c.1756C>A (p.Arg586=) | |
10 | g.110812318C>G | CA378370366 | RBM20 | c.1921C>G (p.Arg641Gly) c.1537C>G (p.Arg513Gly) c.1756C>G (p.Arg586Gly) | |
10 | g.110812318C>T | CA5688650 | RBM20 | c.1921C>T (p.Arg641Trp) c.1537C>T (p.Arg513Trp) c.1756C>T (p.Arg586Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812319G>A | CA335551 | RBM20 | c.1922G>A (p.Arg641Gln) c.1538G>A (p.Arg513Gln) c.1757G>A (p.Arg586Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |