Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240876650_240877771del | CA275856 | AGXT | c.846+646_942+139del | ClinVar |
2 | g.240877556_240877571del | CA2577302731 | AGXT | c.866_881del (p.Arg289ProfsTer18) n.644_659del | |
2 | g.240877559_240877572dup | CA2664011206 | AGXT | c.869_882dup (p.Ala295SerfsTer22) n.647_660dup | gnomAD v4 |
2 | g.240877560G>A | CA432025361 | AGXT | c.870G>A (p.Gln290=) n.648G>A | gnomAD v4 |
2 | g.240877560G>C | CA351319109 | AGXT | c.870G>C (p.Gln290His) n.648G>C | |
2 | g.240877560G>T | CA351319110 | AGXT | c.870G>T (p.Gln290His) n.648G>T | gnomAD v4 |
2 | g.240877561C>A | CA351319113 | AGXT | c.871C>A (p.His291Asn) n.649C>A | gnomAD v4 |
2 | g.240877561C>G | CA351319111 | AGXT | c.871C>G (p.His291Asp) n.649C>G | |
2 | g.240877561C>T | CA351319112 | AGXT | c.871C>T (p.His291Tyr) n.649C>T | |
2 | g.240877562A>C | CA351319114 | AGXT | c.872A>C (p.His291Pro) n.650A>C | |
2 | g.240877562A>G | CA351319115 | AGXT | c.872A>G (p.His291Arg) n.650A>G | |
2 | g.240877562A>T | CA351319116 | AGXT | c.872A>T (p.His291Leu) n.650A>T | |
2 | g.240877563C>A | CA351319117 | AGXT | c.873C>A (p.His291Gln) n.651C>A | |
2 | g.240877563C= | CA1339335512 | AGXT | c.873C= (p.His291=) n.651C= | |
2 | g.240877563C>G | CA351319119 | AGXT | c.873C>G (p.His291Gln) n.651C>G | |
2 | g.240877563C>T | CA2209326 | AGXT | c.873C>T (p.His291=) n.651C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877564C>A | CA351319121 | AGXT | c.874C>A (p.Arg292Ser) n.652C>A | gnomAD v4 |
2 | g.240877564C= | CA1339335513 | AGXT | c.874C= (p.Arg292=) n.652C= | |
2 | g.240877564C>G | CA351319128 | AGXT | c.874C>G (p.Arg292Gly) n.652C>G | |
2 | g.240877564C>T | CA351319131 | AGXT | c.874C>T (p.Arg292Cys) n.652C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877565G>A | CA68180593 | AGXT | c.875G>A (p.Arg292His) n.653G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877565G>C | CA351319134 | AGXT | c.875G>C (p.Arg292Pro) n.653G>C | gnomAD v4 |
2 | g.240877565G= | CA1339335514 | AGXT | c.875G= (p.Arg292=) n.653G= | |
2 | g.240877565G>T | CA351319136 | AGXT | c.875G>T (p.Arg292Leu) n.653G>T | gnomAD v4 |
2 | g.240877566C>A | CA2209327 | AGXT | c.876C>A (p.Arg292=) n.654C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877566C= | CA1339335515 | AGXT | c.876C= (p.Arg292=) n.654C= | |
2 | g.240877566C>G | CA432025377 | AGXT | c.876C>G (p.Arg292=) n.654C>G | ClinVar dbSNP gnomAD v4 |
2 | g.240877566C>T | CA2209328 | AGXT | c.876C>T (p.Arg292=) n.654C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240877567G>A | CA2209329 | AGXT | c.877G>A (p.Glu293Lys) n.655G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877567G>C | CA68180598 | AGXT | c.877G>C (p.Glu293Gln) n.655G>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.240877567G= | CA1339335516 | AGXT | c.877G= (p.Glu293=) n.655G= | |
2 | g.240877567G>T | CA351319143 | AGXT | c.877G>T (p.Glu293Ter) n.655G>T | gnomAD v4 |
2 | g.240877568A>C | CA351319147 | AGXT | c.878A>C (p.Glu293Ala) n.656A>C | |
2 | g.240877568A>G | CA351319148 | AGXT | c.878A>G (p.Glu293Gly) n.656A>G | |
2 | g.240877568A>T | CA351319150 | AGXT | c.878A>T (p.Glu293Val) n.656A>T | |
2 | g.240877569G>A | CA432025393 | AGXT | c.879G>A (p.Glu293=) n.657G>A | ClinVar |
2 | g.240877569G>C | CA351319151 | AGXT | c.879G>C (p.Glu293Asp) n.657G>C | |
2 | g.240877569G>T | CA351319153 | AGXT | c.879G>T (p.Glu293Asp) n.657G>T | gnomAD v4 |
2 | g.240877570G>A | CA351319155 | AGXT | c.880G>A (p.Ala294Thr) n.658G>A | gnomAD v4 |
2 | g.240877570G>C | CA351319159 | AGXT | c.880G>C (p.Ala294Pro) n.658G>C | |
2 | g.240877570G>T | CA351319157 | AGXT | c.880G>T (p.Ala294Ser) n.658G>T | gnomAD v4 |
2 | g.240877571C>A | CA351319161 | AGXT | c.881C>A (p.Ala294Asp) n.659C>A | gnomAD v4 |
2 | g.240877571C= | CA1339335517 | AGXT | c.881C= (p.Ala294=) n.659C= | |
2 | g.240877571C>G | CA351319163 | AGXT | c.881C>G (p.Ala294Gly) n.659C>G | |
2 | g.240877571C>T | CA351319165 | AGXT | c.881C>T (p.Ala294Val) n.659C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240877572C>A | CA432025402 | AGXT | c.882C>A (p.Ala294=) n.660C>A | |
2 | g.240877572C= | CA1339335518 | AGXT | c.882C= (p.Ala294=) n.660C= | |
2 | g.240877572C>G | CA432025403 | AGXT | c.882C>G (p.Ala294=) n.660C>G | |
2 | g.240877572C>T | CA68180601 | AGXT | c.882C>T (p.Ala294=) n.660C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877572_240877575delinsCGCG | CA1339335519 | AGXT | c.882_885delinsCGCG (p.Ala294=) n.660_663delinsCGCG |