Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240876650_240877771del | CA275856 | AGXT | c.846+646_942+139del | ClinVar |
2 | g.240877583T>A | CA351319212 | AGXT | c.893T>A (p.Leu298Gln) n.671T>A | |
2 | g.240877583T>C | CA275758 | AGXT | c.893T>C (p.Leu298Pro) n.671T>C | ClinVar dbSNP |
2 | g.240877583T>G | CA351319216 | AGXT | c.893T>G (p.Leu298Arg) n.671T>G | |
2 | g.240877583T= | CA1339335527 | AGXT | c.893T= (p.Leu298=) n.671T= | |
2 | g.240877584G>A | CA432025440 | AGXT | c.894G>A (p.Leu298=) n.672G>A | gnomAD v4 |
2 | g.240877584G>C | CA432025442 | AGXT | c.894G>C (p.Leu298=) n.672G>C | gnomAD v4 |
2 | g.240877584G>T | CA432025444 | AGXT | c.894G>T (p.Leu298=) n.672G>T | gnomAD v4 |
2 | g.240877585C>A | CA351319218 | AGXT | c.895C>A (p.His299Asn) n.673C>A | dbSNP gnomAD v4 |
2 | g.240877585C= | CA1339335528 | AGXT | c.895C= (p.His299=) n.673C= | |
2 | g.240877585C>G | CA351319219 | AGXT | c.895C>G (p.His299Asp) n.673C>G | |
2 | g.240877585C>T | CA351319221 | AGXT | c.895C>T (p.His299Tyr) n.673C>T | dbSNP gnomAD v4 |
2 | g.240877586A= | CA1339335529 | AGXT | c.896A= (p.His299=) n.674A= | |
2 | g.240877586A>C | CA351319223 | AGXT | c.896A>C (p.His299Pro) n.674A>C | |
2 | g.240877586A>G | CA2209332 | AGXT | c.896A>G (p.His299Arg) n.674A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240877586A>T | CA351319226 | AGXT | c.896A>T (p.His299Leu) n.674A>T | |
2 | g.240877587T>A | CA351319228 | AGXT | c.897T>A (p.His299Gln) n.675T>A | |
2 | g.240877587T>C | CA432025458 | AGXT | c.897T>C (p.His299=) n.675T>C | ClinVar dbSNP |
2 | g.240877587T>G | CA351319230 | AGXT | c.897T>G (p.His299Gln) n.675T>G | |
2 | g.240877587T= | CA1339335530 | AGXT | c.897T= (p.His299=) n.675T= | |
2 | g.240877588G>A | CA351319236 | AGXT | c.898G>A (p.Gly300Arg) n.676G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877588G>C | CA351319232 | AGXT | c.898G>C (p.Gly300Arg) n.676G>C | |
2 | g.240877588G= | CA1339335531 | AGXT | c.898G= (p.Gly300=) n.676G= | |
2 | g.240877588G>T | CA351319234 | AGXT | c.898G>T (p.Gly300Trp) n.676G>T | gnomAD v4 |
2 | g.240877589G>A | CA68180632 | AGXT | c.899G>A (p.Gly300Glu) n.677G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877589G>C | CA351319239 | AGXT | c.899G>C (p.Gly300Ala) n.677G>C | |
2 | g.240877589G= | CA1339335532 | AGXT | c.899G= (p.Gly300=) n.677G= | |
2 | g.240877589G>T | CA68180629 | AGXT | c.899G>T (p.Gly300Val) n.677G>T | dbSNP gnomAD v4 |
2 | g.240877590G>A | CA432025464 | AGXT | c.900G>A (p.Gly300=) n.678G>A | gnomAD v4 |
2 | g.240877590G>C | CA432025465 | AGXT | c.900G>C (p.Gly300=) n.678G>C | |
2 | g.240877590G>T | CA432025467 | AGXT | c.900G>T (p.Gly300=) n.678G>T | gnomAD v4 |
2 | g.240877591C>A | CA351319241 | AGXT | c.901C>A (p.Arg301Ser) n.679C>A | gnomAD v4 |
2 | g.240877591C= | CA1339335533 | AGXT | c.901C= (p.Arg301=) n.679C= | |
2 | g.240877591C>G | CA351319243 | AGXT | c.901C>G (p.Arg301Gly) n.679C>G | |
2 | g.240877591C>T | CA10612915 | AGXT | c.901C>T (p.Arg301Cys) n.679C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877591_240877593delinsGCG | CA2586971644 | AGXT | c.901_903delinsGCG (p.Arg301Ala) n.679_681delinsGCG | |
2 | g.240877592G>A | CA68180639 | AGXT | c.902G>A (p.Arg301His) n.680G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877592G>C | CA351319247 | AGXT | c.902G>C (p.Arg301Pro) n.680G>C | dbSNP |
2 | g.240877592G= | CA1339335534 | AGXT | c.902G= (p.Arg301=) n.680G= | |
2 | g.240877592G>T | CA351319249 | AGXT | c.902G>T (p.Arg301Leu) n.680G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877593C>A | CA432025478 | AGXT | c.903C>A (p.Arg301=) n.681C>A | gnomAD v4 |
2 | g.240877593C>G | CA432025480 | AGXT | c.903C>G (p.Arg301=) n.681C>G | |
2 | g.240877593C>T | CA432025481 | AGXT | c.903C>T (p.Arg301=) n.681C>T | gnomAD v4 |
2 | g.240877594C>A | CA351319251 | AGXT | c.904C>A (p.Leu302Met) n.682C>A | gnomAD v4 |
2 | g.240877594C= | CA1339335535 | AGXT | c.904C= (p.Leu302=) n.682C= | |
2 | g.240877594C>G | CA351319253 | AGXT | c.904C>G (p.Leu302Val) n.682C>G | |
2 | g.240877594C>T | CA68180642 | AGXT | c.904C>T (p.Leu302=) n.682C>T | dbSNP gnomAD v2 |
2 | g.240877595T>A | CA351319257 | AGXT | c.905T>A (p.Leu302Gln) n.683T>A | |
2 | g.240877595T>C | CA351319259 | AGXT | c.905T>C (p.Leu302Pro) n.683T>C | gnomAD v4 |
2 | g.240877595T>G | CA351319255 | AGXT | c.905T>G (p.Leu302Arg) n.683T>G |