Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240878767_240878768del | CA275866 | AGXT | c.1125_1126del (p.Val376AspfsTer?) n.903_904del | ClinVar dbSNP |
2 | g.240878766_240878767delinsTT | CA645538654 | AGXT | c.1124_1125delinsTT (p.Arg375Leu) n.902_903delinsTT | COSMIC |
2 | g.240878767C>A | CA432027094 | AGXT | c.1125C>A (p.Arg375=) n.903C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878767C= | CA1339336153 | AGXT | c.1125C= (p.Arg375=) n.903C= | |
2 | g.240878767C>G | CA432027096 | AGXT | c.1125C>G (p.Arg375=) n.903C>G | |
2 | g.240878767C>T | CA2209427 | AGXT | c.1125C>T (p.Arg375=) n.903C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878768G>A | CA2209428 | AGXT | c.1126G>A (p.Val376Met) n.904G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878768G>C | CA351319822 | AGXT | c.1126G>C (p.Val376Leu) n.904G>C | |
2 | g.240878768G= | CA1339336154 | AGXT | c.1126G= (p.Val376=) n.904G= | |
2 | g.240878768G>T | CA351319821 | AGXT | c.1126G>T (p.Val376Leu) n.904G>T | dbSNP gnomAD v4 |
2 | g.240878769T>A | CA351319823 | AGXT | c.1127T>A (p.Val376Glu) n.905T>A | |
2 | g.240878769T>C | CA68181096 | AGXT | c.1127T>C (p.Val376Ala) n.905T>C | dbSNP gnomAD v4 |
2 | g.240878769T>G | CA351319824 | AGXT | c.1127T>G (p.Val376Gly) n.905T>G | |
2 | g.240878769T= | CA1339336155 | AGXT | c.1127T= (p.Val376=) n.905T= | |
2 | g.240878770G>A | CA432027104 | AGXT | c.1128G>A (p.Val376=) n.906G>A | ClinVar dbSNP |
2 | g.240878770G>C | CA432027105 | AGXT | c.1128G>C (p.Val376=) n.906G>C | dbSNP gnomAD v2 |
2 | g.240878770G= | CA1339336156 | AGXT | c.1128G= (p.Val376=) n.906G= | |
2 | g.240878770G>T | CA432027106 | AGXT | c.1128G>T (p.Val376=) n.906G>T | gnomAD v4 |
2 | g.240878771A>C | CA351319825 | AGXT | c.1129A>C (p.Thr377Pro) n.907A>C | |
2 | g.240878771A>G | CA351319826 | AGXT | c.1129A>G (p.Thr377Ala) n.907A>G | gnomAD v4 |
2 | g.240878771A>T | CA351319827 | AGXT | c.1129A>T (p.Thr377Ser) n.907A>T | |
2 | g.240878771_240878772dup | CA2697550625 | AGXT | c.1129_1130dup (p.Glu378ArgfsTer4) n.907_908dup | ClinVar |
2 | g.240878772C>A | CA351319828 | AGXT | c.1130C>A (p.Thr377Lys) n.908C>A | |
2 | g.240878772C= | CA1339336157 | AGXT | c.1130C= (p.Thr377=) n.908C= | |
2 | g.240878772C>G | CA351319829 | AGXT | c.1130C>G (p.Thr377Arg) n.908C>G | |
2 | g.240878772C>T | CA2209429 | AGXT | c.1130C>T (p.Thr377Met) n.908C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878773G>A | CA432027113 | AGXT | c.1131G>A (p.Thr377=) n.909G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878773G>C | CA432027114 | AGXT | c.1131G>C (p.Thr377=) n.909G>C | |
2 | g.240878773G= | CA1339336158 | AGXT | c.1131G= (p.Thr377=) n.909G= | |
2 | g.240878773G>T | CA432027115 | AGXT | c.1131G>T (p.Thr377=) n.909G>T | gnomAD v4 |
2 | g.240878774G>A | CA351319830 | AGXT | c.1132G>A (p.Glu378Lys) n.910G>A | |
2 | g.240878774G>C | CA351319831 | AGXT | c.1132G>C (p.Glu378Gln) n.910G>C | |
2 | g.240878774G>T | CA351319832 | AGXT | c.1132G>T (p.Glu378Ter) n.910G>T | gnomAD v4 |
2 | g.240878775A>C | CA351319833 | AGXT | c.1133A>C (p.Glu378Ala) n.911A>C | |
2 | g.240878775A>G | CA351319835 | AGXT | c.1133A>G (p.Glu378Gly) n.911A>G | |
2 | g.240878775A>T | CA351319834 | AGXT | c.1133A>T (p.Glu378Val) n.911A>T | |
2 | g.240878776G>A | CA432027124 | AGXT | c.1134G>A (p.Glu378=) n.912G>A | gnomAD v4 |
2 | g.240878776G>C | CA351319836 | AGXT | c.1134G>C (p.Glu378Asp) n.912G>C | |
2 | g.240878776G>T | CA351319837 | AGXT | c.1134G>T (p.Glu378Asp) n.912G>T | gnomAD v4 |
2 | g.240878783_240878794del | CA2664012447 | AGXT | c.1141_1152del (p.Arg381_Leu384del) n.919_930del | gnomAD v4 |
2 | g.240878777G>A | CA2209430 | AGXT | c.1135G>A (p.Ala379Thr) n.913G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878777G>C | CA351319838 | AGXT | c.1135G>C (p.Ala379Pro) n.913G>C | |
2 | g.240878777G= | CA1339336159 | AGXT | c.1135G= (p.Ala379=) n.913G= | |
2 | g.240878777G>T | CA351319839 | AGXT | c.1135G>T (p.Ala379Ser) n.913G>T | gnomAD v4 |
2 | g.240878778C>A | CA351319840 | AGXT | c.1136C>A (p.Ala379Asp) n.914C>A | dbSNP gnomAD v4 |
2 | g.240878778C= | CA1339336160 | AGXT | c.1136C= (p.Ala379=) n.914C= | |
2 | g.240878778C>G | CA351319841 | AGXT | c.1136C>G (p.Ala379Gly) n.914C>G | dbSNP |
2 | g.240878778C>T | CA351319842 | AGXT | c.1136C>T (p.Ala379Val) n.914C>T | gnomAD v4 |
2 | g.240878780del | CA2664012454 | AGXT | c.1138del (p.Leu380Ter) n.916del | gnomAD v4 |
2 | g.240878779C>A | CA432027140 | AGXT | c.1137C>A (p.Ala379=) n.915C>A | gnomAD v4 |