Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.613942A= | CA2317211290 | HCN2 | c.1916A= (p.Asn639=) | |
19 | g.613942A>C | CA402883077 | HCN2 | c.1916A>C (p.Asn639Thr) | ClinVar |
19 | g.613942A>G | CA9018714 | HCN2 | c.1916A>G (p.Asn639Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.613942A>T | CA402883083 | HCN2 | c.1916A>T (p.Asn639Ile) | |
19 | g.613943C>A | CA402883087 | HCN2 | c.1917C>A (p.Asn639Lys) | |
19 | g.613943C= | CA2317211291 | HCN2 | c.1917C= (p.Asn639=) | |
19 | g.613943C>G | CA402883089 | HCN2 | c.1917C>G (p.Asn639Lys) | |
19 | g.613943C>T | CA9018715 | HCN2 | c.1917C>T (p.Asn639=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.613944G>A | CA9018716 | HCN2 | c.1918G>A (p.Glu640Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.613944G>C | CA402883100 | HCN2 | c.1918G>C (p.Glu640Gln) | |
19 | g.613944G= | CA2317211292 | HCN2 | c.1918G= (p.Glu640=) | |
19 | g.613944G>T | CA402883096 | HCN2 | c.1918G>T (p.Glu640Ter) | |
19 | g.613945A>C | CA402883105 | HCN2 | c.1919A>C (p.Glu640Ala) | |
19 | g.613945A>G | CA402883107 | HCN2 | c.1919A>G (p.Glu640Gly) | |
19 | g.613945A>T | CA402883108 | HCN2 | c.1919A>T (p.Glu640Val) | |
19 | g.613946G>A | CA504664754 | HCN2 | c.1920G>A (p.Glu640=) | |
19 | g.613946G>C | CA402883112 | HCN2 | c.1920G>C (p.Glu640Asp) | |
19 | g.613946G>T | CA402883114 | HCN2 | c.1920G>T (p.Glu640Asp) | |
19 | g.613947G>A | CA402883118 | HCN2 | c.1921G>A (p.Val641Met) | |
19 | g.613947G>C | CA402883121 | HCN2 | c.1921G>C (p.Val641Leu) | |
19 | g.613947G>T | CA402883126 | HCN2 | c.1921G>T (p.Val641Leu) | |
19 | g.613948T>A | CA402883128 | HCN2 | c.1922T>A (p.Val641Glu) | |
19 | g.613948T>C | CA402883131 | HCN2 | c.1922T>C (p.Val641Ala) | gnomAD v4 |
19 | g.613948T>G | CA402883133 | HCN2 | c.1922T>G (p.Val641Gly) | |
19 | g.613949G>A | CA504664761 | HCN2 | c.1923G>A (p.Val641=) | COSMIC |
19 | g.613949G>C | CA9018717 | HCN2 | c.1923G>C (p.Val641=) | dbSNP ExAC gnomAD v2 |
19 | g.613949G= | CA2317211293 | HCN2 | c.1923G= (p.Val641=) | |
19 | g.613949G>T | CA504664763 | HCN2 | c.1923G>T (p.Val641=) | |
19 | g.613949_613950delinsGC | CA2317211294 | HCN2 | c.1923_1924delinsGC (p.Val641=) | |
19 | g.613950del | CA884072680 | HCN2 | c.1924del (p.Leu642TrpfsTer6) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.613950C>A | CA402883150 | HCN2 | c.1924C>A (p.Leu642Met) | |
19 | g.613950C= | CA2317211295 | HCN2 | c.1924C= (p.Leu642=) | |
19 | g.613950C>G | CA402883149 | HCN2 | c.1924C>G (p.Leu642Val) | |
19 | g.613950C>T | CA303925365 | HCN2 | c.1924C>T (p.Leu642=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.613951T>A | CA402883151 | HCN2 | c.1925T>A (p.Leu642Gln) | |
19 | g.613951T>C | CA402883155 | HCN2 | c.1925T>C (p.Leu642Pro) | gnomAD v4 |
19 | g.613951T>G | CA402883152 | HCN2 | c.1925T>G (p.Leu642Arg) | |
19 | g.613951_613954delinsTGGA | CA2317211296 | HCN2 | c.1925_1928delinsTGGA (p.Leu642=) | |
19 | g.613952G>A | CA504664770 | HCN2 | c.1926G>A (p.Leu642=) | |
19 | g.613952G>C | CA504664772 | HCN2 | c.1926G>C (p.Leu642=) | |
19 | g.613952G>T | CA504664774 | HCN2 | c.1926G>T (p.Leu642=) | |
19 | g.613956_613958del | CA9018718 | HCN2 | c.1930_1932del (p.Glu644del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.613953G>A | CA402883166 | HCN2 | c.1927G>A (p.Glu643Lys) | dbSNP |
19 | g.613953G>C | CA402883162 | HCN2 | c.1927G>C (p.Glu643Gln) | |
19 | g.613953G= | CA2317211297 | HCN2 | c.1927G= (p.Glu643=) | |
19 | g.613953G>T | CA402883165 | HCN2 | c.1927G>T (p.Glu643Ter) | gnomAD v4 |
19 | g.613954A>C | CA402883167 | HCN2 | c.1928A>C (p.Glu643Ala) | |
19 | g.613954A>G | CA402883170 | HCN2 | c.1928A>G (p.Glu643Gly) | gnomAD v4 |
19 | g.613954A>T | CA402883172 | HCN2 | c.1928A>T (p.Glu643Val) | gnomAD v4 |
19 | g.613955G>A | CA9018719 | HCN2 | c.1929G>A (p.Glu643=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |