Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.240878062_240878067del | CA275863 | AGXT | c.983_988del (p.Ala328_Tyr330delinsAsp) n.761_766del | ClinVar dbSNP |
2 | g.240878063T>A | CA432026227 | AGXT | c.984T>A (p.Ala328=) n.762T>A | |
2 | g.240878063T>C | CA432026229 | AGXT | c.984T>C (p.Ala328=) n.762T>C | ClinVar |
2 | g.240878063T>G | CA432026231 | AGXT | c.984T>G (p.Ala328=) n.762T>G | ClinVar dbSNP gnomAD v4 |
2 | g.240878063T= | CA1339335772 | AGXT | c.984T= (p.Ala328=) n.762T= | |
2 | g.240878064G>A | CA2209368 | AGXT | c.985G>A (p.Gly329Ser) n.763G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878064G>C | CA351319532 | AGXT | c.985G>C (p.Gly329Arg) n.763G>C | |
2 | g.240878064G= | CA1339335773 | AGXT | c.985G= (p.Gly329=) n.763G= | |
2 | g.240878064G>T | CA351319533 | AGXT | c.985G>T (p.Gly329Cys) n.763G>T | |
2 | g.240878065G>A | CA351319534 | AGXT | c.986G>A (p.Gly329Asp) n.764G>A | |
2 | g.240878065G>C | CA351319535 | AGXT | c.986G>C (p.Gly329Ala) n.764G>C | |
2 | g.240878065G>T | CA351319536 | AGXT | c.986G>T (p.Gly329Val) n.764G>T | |
2 | g.240878066C>A | CA432026240 | AGXT | c.987C>A (p.Gly329=) n.765C>A | |
2 | g.240878066C= | CA1339335774 | AGXT | c.987C= (p.Gly329=) n.765C= | |
2 | g.240878066C>G | CA68180834 | AGXT | c.987C>G (p.Gly329=) n.765C>G | dbSNP |
2 | g.240878066C>T | CA2209369 | AGXT | c.987C>T (p.Gly329=) n.765C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878067T>A | CA351319539 | AGXT | c.988T>A (p.Tyr330Asn) n.766T>A | |
2 | g.240878067T>C | CA351319537 | AGXT | c.988T>C (p.Tyr330His) n.766T>C | |
2 | g.240878067T>G | CA351319538 | AGXT | c.988T>G (p.Tyr330Asp) n.766T>G | |
2 | g.240878068A= | CA1339335775 | AGXT | c.989A= (p.Tyr330=) n.767A= | |
2 | g.240878068A>C | CA351319540 | AGXT | c.989A>C (p.Tyr330Ser) n.767A>C | |
2 | g.240878068A>G | CA351319541 | AGXT | c.989A>G (p.Tyr330Cys) n.767A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878068A>T | CA351319542 | AGXT | c.989A>T (p.Tyr330Phe) n.767A>T | |
2 | g.240878069T>A | CA351319543 | AGXT | c.990T>A (p.Tyr330Ter) n.768T>A | |
2 | g.240878069T>C | CA432026243 | AGXT | c.990T>C (p.Tyr330=) n.768T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878069T>G | CA68180837 | AGXT | c.990T>G (p.Tyr330Ter) n.768T>G | dbSNP |
2 | g.240878069T= | CA1339335776 | AGXT | c.990T= (p.Tyr330=) n.768T= | |
2 | g.240878070G>A | CA351319544 | AGXT | c.991G>A (p.Asp331Asn) n.769G>A | |
2 | g.240878070G>C | CA351319546 | AGXT | c.991G>C (p.Asp331His) n.769G>C | |
2 | g.240878070G>T | CA351319545 | AGXT | c.991G>T (p.Asp331Tyr) n.769G>T | gnomAD v4 |
2 | g.240878071A>C | CA351319547 | AGXT | c.992A>C (p.Asp331Ala) n.770A>C | |
2 | g.240878071A>G | CA351319548 | AGXT | c.992A>G (p.Asp331Gly) n.770A>G | |
2 | g.240878071A>T | CA351319549 | AGXT | c.992A>T (p.Asp331Val) n.770A>T | |
2 | g.240878072C>A | CA351319550 | AGXT | c.993C>A (p.Asp331Glu) n.771C>A |