Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240873985C>A | CA275715 | AGXT | c.603C>A (p.Asp201Glu) n.332+936C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240873985C= | CA1339333558 | AGXT | c.603C= (p.Asp201=) n.332+936C= | |
2 | g.240873985C>G | CA351316771 | AGXT | c.603C>G (p.Asp201Glu) n.332+936C>G | |
2 | g.240873985C>T | CA432024100 | AGXT | c.603C>T (p.Asp201=) n.332+936C>T | gnomAD v4 |
2 | g.240873986A>C | CA351316774 | AGXT | c.604A>C (p.Ile202Leu) n.332+937A>C | gnomAD v4 |
2 | g.240873986A>G | CA351316776 | AGXT | c.604A>G (p.Ile202Val) n.332+937A>G | |
2 | g.240873986A>T | CA351316778 | AGXT | c.604A>T (p.Ile202Phe) n.332+937A>T | |
2 | g.240873987T>A | CA275716 | AGXT | c.605T>A (p.Ile202Asn) n.332+938T>A | ClinVar dbSNP |
2 | g.240873987T>C | CA68179251 | AGXT | c.605T>C (p.Ile202Thr) n.332+938T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240873987T>G | CA351316782 | AGXT | c.605T>G (p.Ile202Ser) n.332+938T>G | |
2 | g.240873987T= | CA1339333559 | AGXT | c.605T= (p.Ile202=) n.332+938T= | |
2 | g.240873988C>A | CA68179253 | AGXT | c.606C>A (p.Ile202=) n.332+939C>A | dbSNP |
2 | g.240873988C= | CA1339333560 | AGXT | c.606C= (p.Ile202=) n.332+939C= | |
2 | g.240873988C>G | CA351316784 | AGXT | c.606C>G (p.Ile202Met) n.332+939C>G | |
2 | g.240873988C>T | CA432024107 | AGXT | c.606C>T (p.Ile202=) n.332+939C>T | |
2 | g.240873989del | CA2664007702 | AGXT | c.607del (p.Leu203CysfsTer9) n.332+940del | gnomAD v4 |
2 | g.240873989C>A | CA351316787 | AGXT | c.607C>A (p.Leu203Met) n.332+940C>A | |
2 | g.240873989C= | CA1339333561 | AGXT | c.607C= (p.Leu203=) n.332+940C= | |
2 | g.240873989C>G | CA351316789 | AGXT | c.607C>G (p.Leu203Val) n.332+940C>G | |
2 | g.240873989C>T | CA2209171 | AGXT | c.607C>T (p.Leu203=) n.332+940C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240873990del | CA2664007711 | AGXT | c.608del (p.Leu203ArgfsTer9) n.332+941del | gnomAD v4 |
2 | g.240873990T>A | CA351316794 | AGXT | c.608T>A (p.Leu203Gln) n.332+941T>A | |
2 | g.240873990T>C | CA351316796 | AGXT | c.608T>C (p.Leu203Pro) n.332+941T>C | |
2 | g.240873990T>G | CA351316792 | AGXT | c.608T>G (p.Leu203Arg) n.332+941T>G | |
2 | g.240873991G>A | CA432024114 | AGXT | c.609G>A (p.Leu203=) n.332+942G>A | |
2 | g.240873991G>C | CA2209172 | AGXT | c.609G>C (p.Leu203=) n.332+942G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240873991G= | CA1339333562 | AGXT | c.609G= (p.Leu203=) n.332+942G= | |
2 | g.240873991G>T | CA432024116 | AGXT | c.609G>T (p.Leu203=) n.332+942G>T | |
2 | g.240873992T>A | CA351316799 | AGXT | c.610T>A (p.Tyr204Asn) n.332+943T>A | gnomAD v4 |
2 | g.240873992T>C | CA351316802 | AGXT | c.610T>C (p.Tyr204His) n.332+943T>C | |
2 | g.240873992T>G | CA351316800 | AGXT | c.610T>G (p.Tyr204Asp) n.332+943T>G | |
2 | g.240873993A>C | CA351316805 | AGXT | c.611A>C (p.Tyr204Ser) n.332+944A>C | |
2 | g.240873993A>G | CA351316809 | AGXT | c.611A>G (p.Tyr204Cys) n.332+944A>G | gnomAD v4 |
2 | g.240873993A>T | CA351316806 | AGXT | c.611A>T (p.Tyr204Phe) n.332+944A>T | |
2 | g.240873994C>A | CA275718 | AGXT | c.612C>A (p.Tyr204Ter) n.332+945C>A | ClinVar dbSNP gnomAD v4 |
2 | g.240873994C= | CA1339333563 | AGXT | c.612C= (p.Tyr204=) n.332+945C= | |
2 | g.240873994C>G | CA351316812 | AGXT | c.612C>G (p.Tyr204Ter) n.332+945C>G | |
2 | g.240873994C>T | CA432024119 | AGXT | c.612C>T (p.Tyr204=) n.332+945C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240873995T>A | CA351316814 | AGXT | c.613T>A (p.Ser205Thr) n.332+946T>A | |
2 | g.240873995T>C | CA340441 | AGXT | c.613T>C (p.Ser205Pro) n.332+946T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240873995T>G | CA351316816 | AGXT | c.613T>G (p.Ser205Ala) n.332+946T>G | |
2 | g.240873995T= | CA1339333564 | AGXT | c.613T= (p.Ser205=) n.332+946T= | |
2 | g.240873996C>A | CA275723 | AGXT | c.614C>A (p.Ser205Ter) n.332+947C>A | ClinVar dbSNP |
2 | g.240873996C= | CA1339333565 | AGXT | c.614C= (p.Ser205=) n.332+947C= | |
2 | g.240873996C>G | CA351316819 | AGXT | c.614C>G (p.Ser205Trp) n.332+947C>G | dbSNP |
2 | g.240873996C>T | CA275721 | AGXT | c.614C>T (p.Ser205Leu) n.332+947C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.240873997G>A | CA2209173 | AGXT | c.615G>A (p.Ser205=) n.332+948G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240873997G>C | CA432024124 | AGXT | c.615G>C (p.Ser205=) n.332+948G>C | ClinVar dbSNP gnomAD v2 |
2 | g.240873997G= | CA1339333566 | AGXT | c.615G= (p.Ser205=) n.332+948G= | |
2 | g.240873997G>T | CA432024125 | AGXT | c.615G>T (p.Ser205=) n.332+948G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |