Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.206842601_206842612del | CA2650221019 | IL19 | c.513_524del (p.Glu172_Phe175del) c.627_638del (p.Glu210_Phe213del) n.210_221del | gnomAD v4 |
1 | g.206842612del | CA2650221021 | IL19 | c.524del (p.Phe175SerfsTer10) c.524del (p.Phe175SerfsTer?) c.638del (p.Phe213SerfsTer10) n.211del | gnomAD v4 |
1 | g.206842612T>A | CA344486379 | IL19 | c.524T>A (p.Phe175Tyr) c.638T>A (p.Phe213Tyr) n.210A>T | gnomAD v4 |
1 | g.206842612T>C | CA1364115 | IL19 | c.524T>C (p.Phe175Ser) c.638T>C (p.Phe213Ser) n.210A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.206842612T>G | CA344486381 | IL19 | c.524T>G (p.Phe175Cys) c.638T>G (p.Phe213Cys) n.210A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.206842612T= | CA1139923043 | IL19 | c.524T= (p.Phe175=) c.638T= (p.Phe213=) n.210A= | |
1 | g.206842613C>A | CA344486383 | IL19 | c.525C>A (p.Phe175Leu) c.639C>A (p.Phe213Leu) n.209G>T | gnomAD v4 |
1 | g.206842613C= | CA2483157048 | IL19 | c.525C= (p.Phe175=) c.639C= (p.Phe213=) n.209G= | |
1 | g.206842613C>G | CA344486384 | IL19 | c.525C>G (p.Phe175Leu) c.639C>G (p.Phe213Leu) n.209G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.206842613C>T | CA422935083 | IL19 | c.525C>T (p.Phe175=) c.639C>T (p.Phe213=) n.209G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.206842613_206842614insAAGC | CA2650221022 | IL19 | c.525_526insAAGC (p.Ser176LysfsTer?) c.639_640insAAGC (p.Ser214LysfsTer?) n.209_210insCTTG | gnomAD v4 |
1 | g.206842614del | CA2650221023 | IL19 | c.526del (p.Ser176GlnfsTer9) c.526del (p.Ser176GlnfsTer?) c.640del (p.Ser214GlnfsTer9) n.208del | gnomAD v4 |
1 | g.206842614T>A | CA344486386 | IL19 | c.526T>A (p.Ser176Thr) c.640T>A (p.Ser214Thr) n.208A>T | |
1 | g.206842614T>C | CA1364116 | IL19 | c.526T>C (p.Ser176Pro) c.640T>C (p.Ser214Pro) n.208A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.206842614T>G | CA344486388 | IL19 | c.526T>G (p.Ser176Ala) c.640T>G (p.Ser214Ala) n.208A>C | |
1 | g.206842614T= | CA1143739035 | IL19 | c.526T= (p.Ser176=) c.640T= (p.Ser214=) n.208A= | |
1 | g.206842615_206842637del | CA2650221024 | IL19 | c.527_*15del (n.[c.527_*15del;Ser176TyrfsTer?]) c.641_*15del (n.[c.641_*15del;Ser214TyrfsTer?]) n.186_208del | gnomAD v4 |
1 | g.206842615C>A | CA344486390 | IL19 | c.527C>A (p.Ser176Ter) c.641C>A (p.Ser214Ter) n.207G>T | gnomAD v4 |
1 | g.206842615C>G | CA344486391 | IL19 | c.527C>G (p.Ser176Ter) c.641C>G (p.Ser214Ter) n.207G>C | gnomAD v4 |
1 | g.206842615C>T | CA344486393 | IL19 | c.527C>T (p.Ser176Leu) c.641C>T (p.Ser214Leu) n.207G>A | gnomAD v4 COSMIC COSMIC |
1 | g.206842616A>C | CA422935085 | IL19 | c.528A>C (p.Ser176=) c.642A>C (p.Ser214=) n.206T>G | |
1 | g.206842616A>G | CA422935086 | IL19 | c.528A>G (p.Ser176=) c.642A>G (p.Ser214=) n.206T>C | gnomAD v4 |
1 | g.206842616A>T | CA422935084 | IL19 | c.528A>T (p.Ser176=) c.642A>T (p.Ser214=) n.206T>A | |
1 | g.206842616dup | CA2650221025 | IL19 | c.528dup (p.Ala177SerfsTer?) c.642dup (p.Ala215SerfsTer?) n.206dup | gnomAD v4 |
1 | g.206842617G>A | CA344486398 | IL19 | c.529G>A (p.Ala177Thr) c.643G>A (p.Ala215Thr) n.205C>T | gnomAD v4 |
1 | g.206842617G>C | CA344486395 | IL19 | c.529G>C (p.Ala177Pro) c.643G>C (p.Ala215Pro) n.205C>G | |
1 | g.206842617G>T | CA344486397 | IL19 | c.529G>T (p.Ala177Ser) c.643G>T (p.Ala215Ser) n.205C>A | gnomAD v4 |
1 | g.206842618C>A | CA344486400 | IL19 | c.530C>A (p.Ala177Asp) c.644C>A (p.Ala215Asp) n.204G>T | gnomAD v4 |
1 | g.206842618C= | CA2483157049 | IL19 | c.530C= (p.Ala177=) c.644C= (p.Ala215=) n.204G= | |
1 | g.206842618C>G | CA344486402 | IL19 | c.530C>G (p.Ala177Gly) c.644C>G (p.Ala215Gly) n.204G>C | |
1 | g.206842618C>T | CA344486403 | IL19 | c.530C>T (p.Ala177Val) c.644C>T (p.Ala215Val) n.204G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.206842619T>A | CA422935087 | IL19 | c.531T>A (p.Ala177=) c.645T>A (p.Ala215=) n.203A>T | |
1 | g.206842619T>C | CA422935088 | IL19 | c.531T>C (p.Ala177=) c.645T>C (p.Ala215=) n.203A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.206842619T>G | CA422935089 | IL19 | c.531T>G (p.Ala177=) c.645T>G (p.Ala215=) n.203A>C | |
1 | g.206842619T= | CA2483157050 | IL19 | c.531T= (p.Ala177=) c.645T= (p.Ala215=) n.203A= | |
1 | g.206842620del | CA2650221026 | IL19 | c.532del (p.Ter178AspextTer7) c.532del (p.Ter178=) c.646del (p.Ter216AspextTer7) n.203del | gnomAD v4 |
1 | g.206842620T>A | CA344486404 | IL19 | c.532T>A (p.Ter178Arg) c.646T>A (p.Ter216Arg) n.202A>T | |
1 | g.206842620T>C | CA344486405 | IL19 | c.532T>C (p.Ter178Arg) c.646T>C (p.Ter216Arg) n.202A>G | gnomAD v4 |
1 | g.206842620T>G | CA344486407 | IL19 | c.532T>G (p.Ter178Gly) c.646T>G (p.Ter216Gly) n.202A>C | |
1 | g.206842621del | CA2650221027 | IL19 | c.533del (p.Ter178TyrextTer7) c.533del (p.Ter178=) c.647del (p.Ter216TyrextTer7) n.201del | gnomAD v4 |
1 | g.206842621G>A | CA422935090 | IL19 | c.533G>A (p.Ter178=) c.647G>A (p.Ter216=) n.201C>T | gnomAD v4 |
1 | g.206842621G>C | CA344486408 | IL19 | c.533G>C (p.Ter178Ser) c.647G>C (p.Ter216Ser) n.201C>G | gnomAD v4 |
1 | g.206842621G>T | CA344486409 | IL19 | c.533G>T (p.Ter178Leu) c.647G>T (p.Ter216Leu) n.201C>A | gnomAD v4 |
1 | g.206842622A>C | CA344486412 | IL19 | c.534A>C (p.Ter178Cys) c.648A>C (p.Ter216Cys) n.200T>G | |
1 | g.206842622A>G | CA344486413 | IL19 | c.534A>G (p.Ter178Trp) c.648A>G (p.Ter216Trp) n.200T>C | gnomAD v4 |
1 | g.206842622A>T | CA344486415 | IL19 | c.534A>T (p.Ter178Cys) c.648A>T (p.Ter216Cys) n.200T>A | gnomAD v4 |
1 | g.206842623T>C | CA528577745 | IL19 | c.*1T>C (n.*1T>C) n.199A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.206842623T>G | CA2650221028 | IL19 | c.*1T>G (n.*1T>G) n.199A>C | gnomAD v4 |
1 | g.206842623T= | CA2483157051 | IL19 | c.*1T= (n.*1T=) n.199A= | |
1 | g.206842624G>A | CA2650221029 | IL19 | c.*2G>A (n.*2G>A) n.198C>T | gnomAD v4 |