Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240874028G>A | CA275728 | AGXT | c.646G>A (p.Gly216Arg) n.332+979G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874028G>C | CA351316956 | AGXT | c.646G>C (p.Gly216Arg) n.332+979G>C | |
2 | g.240874028G= | CA1339333580 | AGXT | c.646G= (p.Gly216=) n.332+979G= | |
2 | g.240874028G>T | CA351316958 | AGXT | c.646G>T (p.Gly216Trp) n.332+979G>T | |
2 | g.240874029G>A | CA2209180 | AGXT | c.647G>A (p.Gly216Glu) n.332+980G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874029G>C | CA351316960 | AGXT | c.647G>C (p.Gly216Ala) n.332+980G>C | |
2 | g.240874029G= | CA1339333581 | AGXT | c.647G= (p.Gly216=) n.332+980G= | |
2 | g.240874029G>T | CA351316962 | AGXT | c.647G>T (p.Gly216Val) n.332+980G>T | |
2 | g.240874029_240874030delinsAA | CA645538649 | AGXT | c.647_648delinsAA (p.Gly216Glu) n.332+980_332+981delinsAA | COSMIC |
2 | g.240874030G>A | CA432024194 | AGXT | c.648G>A (p.Gly216=) n.332+981G>A | |
2 | g.240874030G>C | CA2209181 | AGXT | c.648G>C (p.Gly216=) n.332+981G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874030G= | CA1339333582 | AGXT | c.648G= (p.Gly216=) n.332+981G= | |
2 | g.240874030G>T | CA432024195 | AGXT | c.648G>T (p.Gly216=) n.332+981G>T | |
2 | g.240874031A>C | CA351316966 | AGXT | c.649A>C (p.Thr217Pro) n.332+982A>C | |
2 | g.240874031A>G | CA351316968 | AGXT | c.649A>G (p.Thr217Ala) n.332+982A>G | |
2 | g.240874031A>T | CA351316970 | AGXT | c.649A>T (p.Thr217Ser) n.332+982A>T | |
2 | g.240874032C>A | CA351316972 | AGXT | c.650C>A (p.Thr217Asn) n.332+983C>A | |
2 | g.240874032C>G | CA351316974 | AGXT | c.650C>G (p.Thr217Ser) n.332+983C>G | |
2 | g.240874032C>T | CA351316978 | AGXT | c.650C>T (p.Thr217Ile) n.332+983C>T | |
2 | g.240874033C>A | CA432024205 | AGXT | c.651C>A (p.Thr217=) n.332+984C>A | |
2 | g.240874033C= | CA1339333583 | AGXT | c.651C= (p.Thr217=) n.332+984C= | |
2 | g.240874033C>G | CA432024206 | AGXT | c.651C>G (p.Thr217=) n.332+984C>G | |
2 | g.240874033C>T | CA2209182 | AGXT | c.651C>T (p.Thr217=) n.332+984C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874034T>A | CA351316983 | AGXT | c.652T>A (p.Ser218Thr) n.332+985T>A | |
2 | g.240874034T>C | CA351316980 | AGXT | c.652T>C (p.Ser218Pro) n.332+985T>C | |
2 | g.240874034T>G | CA351316981 | AGXT | c.652T>G (p.Ser218Ala) n.332+985T>G | |
2 | g.240874035C>A | CA351316985 | AGXT | c.653C>A (p.Ser218Ter) n.332+986C>A | ClinVar dbSNP |
2 | g.240874035C= | CA1339333584 | AGXT | c.653C= (p.Ser218=) n.332+986C= | |
2 | g.240874035C>G | CA351316987 | AGXT | c.653C>G (p.Ser218Trp) n.332+986C>G | |
2 | g.240874035C>T | CA274210 | AGXT | c.653C>T (p.Ser218Leu) n.332+986C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874036G>A | CA203191 | AGXT | c.654G>A (p.Ser218=) n.332+987G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874036G>C | CA432024210 | AGXT | c.654G>C (p.Ser218=) n.332+987G>C | |
2 | g.240874036G= | CA1339333585 | AGXT | c.654G= (p.Ser218=) n.332+987G= | |
2 | g.240874036G>T | CA432024211 | AGXT | c.654G>T (p.Ser218=) n.332+987G>T | |
2 | g.240874037C>A | CA351316992 | AGXT | c.655C>A (p.Leu219Ile) n.332+988C>A | |
2 | g.240874037C= | CA1339333586 | AGXT | c.655C= (p.Leu219=) n.332+988C= | |
2 | g.240874037C>G | CA351316993 | AGXT | c.655C>G (p.Leu219Val) n.332+988C>G | |
2 | g.240874037C>T | CA351316999 | AGXT | c.655C>T (p.Leu219Phe) n.332+988C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874038T>A | CA351317001 | AGXT | c.656T>A (p.Leu219His) n.332+989T>A | |
2 | g.240874038T>C | CA351317003 | AGXT | c.656T>C (p.Leu219Pro) n.332+989T>C | |
2 | g.240874038T>G | CA351317004 | AGXT | c.656T>G (p.Leu219Arg) n.332+989T>G | |
2 | g.240874039C>A | CA432024216 | AGXT | c.657C>A (p.Leu219=) n.332+990C>A | COSMIC |
2 | g.240874039C>G | CA432024217 | AGXT | c.657C>G (p.Leu219=) n.332+990C>G | |
2 | g.240874039C>T | CA432024219 | AGXT | c.657C>T (p.Leu219=) n.332+990C>T | gnomAD v4 COSMIC |
2 | g.240874040A>C | CA351317011 | AGXT | c.658A>C (p.Ile220Leu) n.332+991A>C | gnomAD v4 |
2 | g.240874040A>G | CA351317009 | AGXT | c.658A>G (p.Ile220Val) n.332+991A>G | gnomAD v4 |
2 | g.240874040A>T | CA351317007 | AGXT | c.658A>T (p.Ile220Phe) n.332+991A>T | ClinVar |
2 | g.240874041T>A | CA351317013 | AGXT | c.659T>A (p.Ile220Asn) n.332+992T>A | |
2 | g.240874041T>C | CA68179282 | AGXT | c.659T>C (p.Ile220Thr) n.332+992T>C | dbSNP |
2 | g.240874041T>G | CA351317015 | AGXT | c.659T>G (p.Ile220Ser) n.332+992T>G |