Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.63345478_63345481delinsTCGG | CA2182625780 | CA12 | c.425_428delinsCCGA (p.Ala142=) c.245_248delinsCCGA (p.Ala82=) n.918_921delinsCCGA n.598_601delinsCCGA | |
15 | g.63345479C>A | CA392730173 | CA12 | c.427G>T (p.Glu143Ter) c.247G>T (p.Glu83Ter) n.920G>T n.600G>T | |
15 | g.63345479C= | CA2182625781 | CA12 | c.427G= (p.Glu143=) c.247G= (p.Glu83=) n.920G= n.600G= | |
15 | g.63345479C>G | CA392730174 | CA12 | c.427G>C (p.Glu143Gln) c.247G>C (p.Glu83Gln) n.920G>C n.600G>C | |
15 | g.63345479C>T | CA118349 | CA12 | c.427G>A (p.Glu143Lys) c.247G>A (p.Glu83Lys) n.920G>A n.600G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.63345484_63345486del | CA7602514 | CA12 | c.425_427del (p.Ala142del) c.245_247del (p.Ala82del) n.918_920del n.598_600del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.63345480G>A | CA7602515 | CA12 | c.426C>T (p.Ala142=) c.246C>T (p.Ala82=) n.919C>T n.599C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.63345480G>C | CA490700993 | CA12 | c.426C>G (p.Ala142=) c.246C>G (p.Ala82=) n.919C>G n.599C>G | |
15 | g.63345480G= | CA2182625782 | CA12 | c.426C= (p.Ala142=) c.246C= (p.Ala82=) n.919C= n.599C= | |
15 | g.63345480G>T | CA490700994 | CA12 | c.426C>A (p.Ala142=) c.246C>A (p.Ala82=) n.919C>A n.599C>A | gnomAD v4 |
15 | g.63345481G>A | CA392730175 | CA12 | c.425C>T (p.Ala142Val) c.245C>T (p.Ala82Val) n.918C>T n.598C>T | dbSNP gnomAD v4 |
15 | g.63345481G>C | CA392730176 | CA12 | c.425C>G (p.Ala142Gly) c.245C>G (p.Ala82Gly) n.918C>G n.598C>G | gnomAD v4 |
15 | g.63345481G= | CA2182625783 | CA12 | c.425C= (p.Ala142=) c.245C= (p.Ala82=) n.918C= n.598C= | |
15 | g.63345481G>T | CA392730177 | CA12 | c.425C>A (p.Ala142Asp) c.245C>A (p.Ala82Asp) n.918C>A n.598C>A | gnomAD v4 |
15 | g.63345482C>A | CA392730178 | CA12 | c.424G>T (p.Ala142Ser) c.244G>T (p.Ala82Ser) n.917G>T n.597G>T | gnomAD v4 |
15 | g.63345482C= | CA2182625784 | CA12 | c.424G= (p.Ala142=) c.244G= (p.Ala82=) n.917G= n.597G= | |
15 | g.63345482C>G | CA392730179 | CA12 | c.424G>C (p.Ala142Pro) c.244G>C (p.Ala82Pro) n.917G>C n.597G>C | |
15 | g.63345482C>T | CA7602516 | CA12 | c.424G>A (p.Ala142Thr) c.244G>A (p.Ala82Thr) n.917G>A n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.63345483G>A | CA7602517 | CA12 | c.423C>T (p.Ala141=) c.243C>T (p.Ala81=) n.916C>T n.596C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.63345483G>C | CA490700998 | CA12 | c.423C>G (p.Ala141=) c.243C>G (p.Ala81=) n.916C>G n.596C>G | |
15 | g.63345483G= | CA2182625785 | CA12 | c.423C= (p.Ala141=) c.243C= (p.Ala81=) n.916C= n.596C= | |
15 | g.63345483G>T | CA490700999 | CA12 | c.423C>A (p.Ala141=) c.243C>A (p.Ala81=) n.916C>A n.596C>A | gnomAD v4 COSMIC |
15 | g.63345484G>A | CA392730182 | CA12 | c.422C>T (p.Ala141Val) c.242C>T (p.Ala81Val) n.915C>T n.595C>T | gnomAD v4 |
15 | g.63345484G>C | CA392730181 | CA12 | c.422C>G (p.Ala141Gly) c.242C>G (p.Ala81Gly) n.915C>G n.595C>G | |
15 | g.63345484G>T | CA392730180 | CA12 | c.422C>A (p.Ala141Asp) c.242C>A (p.Ala81Asp) n.915C>A n.595C>A | |
15 | g.63345485C>A | CA392730183 | CA12 | c.421G>T (p.Ala141Ser) c.241G>T (p.Ala81Ser) n.914G>T n.594G>T | |
15 | g.63345485C= | CA2182625786 | CA12 | c.421G= (p.Ala141=) c.241G= (p.Ala81=) n.914G= n.594G= | |
15 | g.63345485C>G | CA392730184 | CA12 | c.421G>C (p.Ala141Pro) c.241G>C (p.Ala81Pro) n.914G>C n.594G>C | |
15 | g.63345485C>T | CA392730185 | CA12 | c.421G>A (p.Ala141Thr) c.241G>A (p.Ala81Thr) n.914G>A n.594G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.63345486G>A | CA7602518 | CA12 | c.420C>T (p.Phe140=) c.240C>T (p.Phe80=) n.913C>T n.593C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.63345486G>C | CA392730186 | CA12 | c.420C>G (p.Phe140Leu) c.240C>G (p.Phe80Leu) n.913C>G n.593C>G | |
15 | g.63345486G= | CA2182625787 | CA12 | c.420C= (p.Phe140=) c.240C= (p.Phe80=) n.913C= n.593C= | |
15 | g.63345486G>T | CA392730187 | CA12 | c.420C>A (p.Phe140Leu) c.240C>A (p.Phe80Leu) n.913C>A n.593C>A | gnomAD v4 |
15 | g.63345487A>C | CA392730188 | CA12 | c.419T>G (p.Phe140Cys) c.239T>G (p.Phe80Cys) n.912T>G n.592T>G | |
15 | g.63345487A>G | CA392730189 | CA12 | c.419T>C (p.Phe140Ser) c.239T>C (p.Phe80Ser) n.912T>C n.592T>C | |
15 | g.63345487A>T | CA392730190 | CA12 | c.419T>A (p.Phe140Tyr) c.239T>A (p.Phe80Tyr) n.912T>A n.592T>A | |
15 | g.63345488A>C | CA392730191 | CA12 | c.418T>G (p.Phe140Val) c.238T>G (p.Phe80Val) n.911T>G n.591T>G | |
15 | g.63345488A>G | CA392730192 | CA12 | c.418T>C (p.Phe140Leu) c.238T>C (p.Phe80Leu) n.911T>C n.591T>C | |
15 | g.63345488A>T | CA392730193 | CA12 | c.418T>A (p.Phe140Ile) c.238T>A (p.Phe80Ile) n.911T>A n.591T>A | gnomAD v4 |
15 | g.63345489G>A | CA490701004 | CA12 | c.417C>T (p.His139=) c.237C>T (p.His79=) n.910C>T n.590C>T | |
15 | g.63345489G>C | CA392730194 | CA12 | c.417C>G (p.His139Gln) c.237C>G (p.His79Gln) n.910C>G n.590C>G | gnomAD v4 |
15 | g.63345489G>T | CA392730195 | CA12 | c.417C>A (p.His139Gln) c.237C>A (p.His79Gln) n.910C>A n.590C>A | gnomAD v4 |
15 | g.63345490T>A | CA392730198 | CA12 | c.416A>T (p.His139Leu) c.236A>T (p.His79Leu) n.909A>T n.589A>T | |
15 | g.63345490T>C | CA392730197 | CA12 | c.416A>G (p.His139Arg) c.236A>G (p.His79Arg) n.909A>G n.589A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.63345490T>G | CA392730196 | CA12 | c.416A>C (p.His139Pro) c.236A>C (p.His79Pro) n.909A>C n.589A>C | |
15 | g.63345490T= | CA2182625788 | CA12 | c.416A= (p.His139=) c.236A= (p.His79=) n.909A= n.589A= | |
15 | g.63345491G>A | CA392730199 | CA12 | c.415C>T (p.His139Tyr) c.235C>T (p.His79Tyr) n.908C>T n.588C>T | gnomAD v4 |
15 | g.63345491G>C | CA392730200 | CA12 | c.415C>G (p.His139Asp) c.235C>G (p.His79Asp) n.908C>G n.588C>G | |
15 | g.63345491G>T | CA392730201 | CA12 | c.415C>A (p.His139Asn) c.235C>A (p.His79Asn) n.908C>A n.588C>A | gnomAD v4 COSMIC |
15 | g.63345492C>A | CA392730202 | CA12 | c.414G>T (p.Gln138His) c.234G>T (p.Gln78His) n.907G>T n.587G>T |