Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240878050_240878051del | CA275862 | AGXT | c.971_972del (p.Val324GlyfsTer7) n.749_750del | dbSNP |
2 | g.240878050_240878051delinsTG | CA1339335763 | AGXT | c.971_972delinsTG (p.Val324=) n.749_750delinsTG | |
2 | g.240878051G>A | CA432026199 | AGXT | c.972G>A (p.Val324=) n.750G>A | |
2 | g.240878051G>C | CA432026195 | AGXT | c.972G>C (p.Val324=) n.750G>C | |
2 | g.240878051G>T | CA432026198 | AGXT | c.972G>T (p.Val324=) n.750G>T | |
2 | g.240878052del | CA1139655794 | AGXT | c.973del (p.Ala325LeufsTer16) n.751del | ClinVar dbSNP |
2 | g.240878052G>A | CA2209365 | AGXT | c.973G>A (p.Ala325Thr) n.751G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878052G>C | CA351319510 | AGXT | c.973G>C (p.Ala325Pro) n.751G>C | |
2 | g.240878052G= | CA1339335764 | AGXT | c.973G= (p.Ala325=) n.751G= | |
2 | g.240878052G>T | CA351319511 | AGXT | c.973G>T (p.Ala325Ser) n.751G>T | |
2 | g.240878053C>A | CA351319512 | AGXT | c.974C>A (p.Ala325Asp) n.752C>A | |
2 | g.240878053C>G | CA351319513 | AGXT | c.974C>G (p.Ala325Gly) n.752C>G | |
2 | g.240878053C>T | CA351319514 | AGXT | c.974C>T (p.Ala325Val) n.752C>T | gnomAD v4 |
2 | g.240878054T>A | CA432026201 | AGXT | c.975T>A (p.Ala325=) n.753T>A | |
2 | g.240878054T>C | CA432026202 | AGXT | c.975T>C (p.Ala325=) n.753T>C | |
2 | g.240878054T>G | CA432026203 | AGXT | c.975T>G (p.Ala325=) n.753T>G | |
2 | g.240878054_240878055delinsTG | CA1339335765 | AGXT | c.975_976delinsTG (p.Ala325=) n.753_754delinsTG | |
2 | g.240878055del | CA274440 | AGXT | c.976del (p.Val326TyrfsTer15) n.754del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878055G>A | CA275602 | AGXT | c.976G>A (p.Val326Ile) n.754G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878055G>C | CA351319515 | AGXT | c.976G>C (p.Val326Leu) n.754G>C | |
2 | g.240878055G= | CA1339335766 | AGXT | c.976G= (p.Val326=) n.754G= | |
2 | g.240878055G>T | CA351319516 | AGXT | c.976G>T (p.Val326Leu) n.754G>T | gnomAD v4 |
2 | g.240878056del | CA351319520 | AGXT | c.977del (p.Val326AspfsTer15) n.755del | |
2 | g.240878056T>A | CA351319517 | AGXT | c.977T>A (p.Val326Glu) n.755T>A | |
2 | g.240878056T>C | CA351319518 | AGXT | c.977T>C (p.Val326Ala) n.755T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878056T>G | CA351319519 | AGXT | c.977T>G (p.Val326Gly) n.755T>G | |
2 | g.240878056T= | CA1339335767 | AGXT | c.977T= (p.Val326=) n.755T= | |
2 | g.240878057A>C | CA432026213 | AGXT | c.978A>C (p.Val326=) n.756A>C | |
2 | g.240878057A>G | CA432026215 | AGXT | c.978A>G (p.Val326=) n.756A>G | |
2 | g.240878057A>T | CA432026216 | AGXT | c.978A>T (p.Val326=) n.756A>T | ClinVar dbSNP |
2 | g.240878058C>A | CA351319521 | AGXT | c.979C>A (p.Pro327Thr) n.757C>A | |
2 | g.240878058C= | CA1339335768 | AGXT | c.979C= (p.Pro327=) n.757C= | |
2 | g.240878058C>G | CA351319522 | AGXT | c.979C>G (p.Pro327Ala) n.757C>G | |
2 | g.240878058C>T | CA351319523 | AGXT | c.979C>T (p.Pro327Ser) n.757C>T | dbSNP |
2 | g.240878059C>A | CA351319524 | AGXT | c.980C>A (p.Pro327His) n.758C>A | |
2 | g.240878059C>G | CA351319525 | AGXT | c.980C>G (p.Pro327Arg) n.758C>G | |
2 | g.240878059C>T | CA351319526 | AGXT | c.980C>T (p.Pro327Leu) n.758C>T | |
2 | g.240878060C>A | CA432026222 | AGXT | c.981C>A (p.Pro327=) n.759C>A | gnomAD v4 |
2 | g.240878060C= | CA1339335769 | AGXT | c.981C= (p.Pro327=) n.759C= | |
2 | g.240878060C>G | CA432026224 | AGXT | c.981C>G (p.Pro327=) n.759C>G | |
2 | g.240878060C>T | CA2209366 | AGXT | c.981C>T (p.Pro327=) n.759C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878061G>A | CA2209367 | AGXT | c.982G>A (p.Ala328Thr) n.760G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878061G>C | CA351319528 | AGXT | c.982G>C (p.Ala328Pro) n.760G>C | dbSNP |
2 | g.240878061G= | CA1339335771 | AGXT | c.982G= (p.Ala328=) n.760G= | |
2 | g.240878061G>T | CA351319527 | AGXT | c.982G>T (p.Ala328Ser) n.760G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878061_240878067delinsGCTGGCT | CA1339335770 | AGXT | c.982_988delinsGCTGGCT (p.Ala328=) n.760_766delinsGCTGGCT | |
2 | g.240878062C>A | CA351319529 | AGXT | c.983C>A (p.Ala328Asp) n.761C>A | |
2 | g.240878062C>G | CA351319530 | AGXT | c.983C>G (p.Ala328Gly) n.761C>G | |
2 | g.240878062C>T | CA351319531 | AGXT | c.983C>T (p.Ala328Val) n.761C>T | |
2 | g.240878062dup | CA2580068044 | AGXT | c.983dup (p.Gly329TrpfsTer3) n.761dup | ClinVar |