Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17023974T>A | CA338270925 | SDHB | c.470A>T (p.Gln157Leu) c.599A>T (p.Gln200Leu) c.641A>T (p.Gln214Leu) n.575A>T | |
1 | g.17023974T>C | CA16609928 | SDHB | c.470A>G (p.Gln157Arg) c.599A>G (p.Gln200Arg) c.641A>G (p.Gln214Arg) n.575A>G | ClinVar dbSNP |
1 | g.17023974T>G | CA089682 | SDHB | c.470A>C (p.Gln157Pro) c.599A>C (p.Gln200Pro) c.641A>C (p.Gln214Pro) n.575A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17023974T= | CA1156078611 | SDHB | c.470A= (p.Gln157=) c.599A= (p.Gln200=) c.641A= (p.Gln214=) n.575A= | |
1 | g.17023975G>A | CA10577671 | SDHB | c.469C>T (p.Gln157Ter) c.598C>T (p.Gln200Ter) c.640C>T (p.Gln214Ter) n.574C>T | ClinVar dbSNP |
1 | g.17023975G>C | CA338270926 | SDHB | c.469C>G (p.Gln157Glu) c.598C>G (p.Gln200Glu) c.640C>G (p.Gln214Glu) n.574C>G | dbSNP |
1 | g.17023975G= | CA1156078612 | SDHB | c.469C= (p.Gln157=) c.598C= (p.Gln200=) c.640C= (p.Gln214=) n.574C= | |
1 | g.17023975G>T | CA338270927 | SDHB | c.469C>A (p.Gln157Lys) c.598C>A (p.Gln200Lys) c.640C>A (p.Gln214Lys) n.574C>A | |
1 | g.17023975_17023976delinsGC | CA1156078613 | SDHB | c.468_469delinsGC (p.Met156=) c.597_598delinsGC (p.Met199=) c.639_640delinsGC (p.Met213=) n.573_574delinsGC | |
1 | g.17023976del | CA645369141 | SDHB | c.468del (p.Met156IlefsTer7) c.597del (p.Met199IlefsTer7) c.639del (p.Met213IlefsTer7) n.573del c.597del (p.Met199IlefsTer?) | ClinVar dbSNP |
1 | g.17023976C>A | CA338270928 | SDHB | c.468G>T (p.Met156Ile) c.597G>T (p.Met199Ile) c.639G>T (p.Met213Ile) n.573G>T | |
1 | g.17023976C>G | CA338270929 | SDHB | c.468G>C (p.Met156Ile) c.597G>C (p.Met199Ile) c.639G>C (p.Met213Ile) n.573G>C | |
1 | g.17023976C>T | CA338270930 | SDHB | c.468G>A (p.Met156Ile) c.597G>A (p.Met199Ile) c.639G>A (p.Met213Ile) n.573G>A | |
1 | g.17023977A= | CA1143519691 | SDHB | c.467T= (p.Met156=) c.596T= (p.Met199=) c.638T= (p.Met213=) n.572T= | |
1 | g.17023977A>C | CA338270932 | SDHB | c.467T>G (p.Met156Arg) c.596T>G (p.Met199Arg) c.638T>G (p.Met213Arg) n.572T>G | ClinVar |
1 | g.17023977A>G | CA016054 | SDHB | c.467T>C (p.Met156Thr) c.596T>C (p.Met199Thr) c.638T>C (p.Met213Thr) n.572T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17023977A>T | CA338270931 | SDHB | c.467T>A (p.Met156Lys) c.596T>A (p.Met199Lys) c.638T>A (p.Met213Lys) n.572T>A | |
1 | g.17023978T>A | CA089681 | SDHB | c.466A>T (p.Met156Leu) c.595A>T (p.Met199Leu) c.637A>T (p.Met213Leu) n.571A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17023978T>C | CA16609912 | SDHB | c.466A>G (p.Met156Val) c.595A>G (p.Met199Val) c.637A>G (p.Met213Val) n.571A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17023978T>G | CA338270933 | SDHB | c.466A>C (p.Met156Leu) c.595A>C (p.Met199Leu) c.637A>C (p.Met213Leu) n.571A>C | |
1 | g.17023978T= | CA1156078614 | SDHB | c.466A= (p.Met156=) c.595A= (p.Met199=) c.637A= (p.Met213=) n.571A= | |
1 | g.17023978dup | CA2580060634 | SDHB | c.466dup (p.Met156AsnfsTer9) c.595dup (p.Met199AsnfsTer9) c.637dup (p.Met213AsnfsTer9) n.571dup c.595dup (p.Met199AsnfsTer?) | ClinVar |
1 | g.17023979A= | CA1156078615 | SDHB | c.465T= (p.Leu155=) c.594T= (p.Leu198=) c.636T= (p.Leu212=) n.570T= | |
1 | g.17023979A>C | CA416082777 | SDHB | c.465T>G (p.Leu155=) c.594T>G (p.Leu198=) c.636T>G (p.Leu212=) n.570T>G | |
1 | g.17023979A>G | CA18663154 | SDHB | c.465T>C (p.Leu155=) c.594T>C (p.Leu198=) c.636T>C (p.Leu212=) n.570T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17023979A>T | CA416082779 | SDHB | c.465T>A (p.Leu155=) c.594T>A (p.Leu198=) c.636T>A (p.Leu212=) n.570T>A | |
1 | g.17023980A= | CA1156078616 | SDHB | c.464T= (p.Leu155=) c.593T= (p.Leu198=) c.635T= (p.Leu212=) n.569T= | |
1 | g.17023980A>C | CA338270934 | SDHB | c.464T>G (p.Leu155Arg) c.593T>G (p.Leu198Arg) c.635T>G (p.Leu212Arg) n.569T>G | |
1 | g.17023980A>G | CA338270935 | SDHB | c.464T>C (p.Leu155Pro) c.593T>C (p.Leu198Pro) c.635T>C (p.Leu212Pro) n.569T>C | ClinVar gnomAD v4 |
1 | g.17023980A>T | CA338270936 | SDHB | c.464T>A (p.Leu155His) c.593T>A (p.Leu198His) c.635T>A (p.Leu212His) n.569T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17023981G>A | CA338270937 | SDHB | c.463C>T (p.Leu155Phe) c.592C>T (p.Leu198Phe) c.634C>T (p.Leu212Phe) n.568C>T | ClinVar dbSNP COSMIC |
1 | g.17023981G>C | CA338270938 | SDHB | c.463C>G (p.Leu155Val) c.592C>G (p.Leu198Val) c.634C>G (p.Leu212Val) n.568C>G | ClinVar dbSNP |
1 | g.17023981G= | CA1156078617 | SDHB | c.463C= (p.Leu155=) c.592C= (p.Leu198=) c.634C= (p.Leu212=) n.568C= | |
1 | g.17023981G>T | CA338270939 | SDHB | c.463C>A (p.Leu155Ile) c.592C>A (p.Leu198Ile) c.634C>A (p.Leu212Ile) n.568C>A | |
1 | g.17023982A>C | CA416082798 | SDHB | c.462T>G (p.Val154=) c.591T>G (p.Val197=) c.633T>G (p.Val211=) n.567T>G | |
1 | g.17023982A>G | CA416082801 | SDHB | c.462T>C (p.Val154=) c.591T>C (p.Val197=) c.633T>C (p.Val211=) n.567T>C | |
1 | g.17023982A>T | CA416082804 | SDHB | c.462T>A (p.Val154=) c.591T>A (p.Val197=) c.633T>A (p.Val211=) n.567T>A | |
1 | g.17023983A>C | CA338270940 | SDHB | c.461T>G (p.Val154Gly) c.590T>G (p.Val197Gly) c.632T>G (p.Val211Gly) n.566T>G | |
1 | g.17023983A>G | CA338270941 | SDHB | c.461T>C (p.Val154Ala) c.590T>C (p.Val197Ala) c.632T>C (p.Val211Ala) n.566T>C | ClinVar dbSNP COSMIC |
1 | g.17023983A>T | CA338270942 | SDHB | c.461T>A (p.Val154Asp) c.590T>A (p.Val197Asp) c.632T>A (p.Val211Asp) n.566T>A | |
1 | g.17023984C>A | CA338270945 | SDHB | c.460G>T (p.Val154Phe) c.589G>T (p.Val197Phe) c.631G>T (p.Val211Phe) n.565G>T | |
1 | g.17023984C= | CA1156078618 | SDHB | c.460G= (p.Val154=) c.589G= (p.Val197=) c.631G= (p.Val211=) n.565G= | |
1 | g.17023984C>G | CA338270944 | SDHB | c.460G>C (p.Val154Leu) c.589G>C (p.Val197Leu) c.631G>C (p.Val211Leu) n.565G>C | ClinVar dbSNP |
1 | g.17023984C>T | CA338270943 | SDHB | c.460G>A (p.Val154Ile) c.589G>A (p.Val197Ile) c.631G>A (p.Val211Ile) n.565G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17023985T>A | CA416082822 | SDHB | c.459A>T (p.Ala153=) c.588A>T (p.Ala196=) c.630A>T (p.Ala210=) n.564A>T | |
1 | g.17023985T>C | CA416082823 | SDHB | c.459A>G (p.Ala153=) c.588A>G (p.Ala196=) c.630A>G (p.Ala210=) n.564A>G | gnomAD v4 |
1 | g.17023985T>G | CA416082825 | SDHB | c.459A>C (p.Ala153=) c.588A>C (p.Ala196=) c.630A>C (p.Ala210=) n.564A>C | ClinVar |
1 | g.17023986G>A | CA338270946 | SDHB | c.458C>T (p.Ala153Val) c.587C>T (p.Ala196Val) c.629C>T (p.Ala210Val) n.563C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17023986G>C | CA338270947 | SDHB | c.458C>G (p.Ala153Gly) c.587C>G (p.Ala196Gly) c.629C>G (p.Ala210Gly) n.563C>G | |
1 | g.17023986G= | CA1156078619 | SDHB | c.458C= (p.Ala153=) c.587C= (p.Ala196=) c.629C= (p.Ala210=) n.563C= |