Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240868866_240871449del | CA2741808836 | AGXT | c.1_524del n.21_544del | ClinVar |
2 | g.240868867T>A | CA351312462 | AGXT | c.2T>A (p.Met1Lys) n.22T>A n.405+1366A>T | gnomAD v4 |
2 | g.240868867T>C | CA275613 | AGXT | c.2T>C (p.Met1Thr) n.22T>C n.405+1366A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868867T>G | CA351312464 | AGXT | c.2T>G (p.Met1Arg) n.22T>G n.405+1366A>C | |
2 | g.240868867T= | CA1339330731 | AGXT | c.2T= (p.Met1=) n.22T= n.405+1366A= | |
2 | g.240868867_240868868delinsAT | CA275812 | AGXT | c.2_3delinsAT (p.Met1Asn) n.22_23delinsAT n.405+1365_405+1366delinsAT | ClinVar dbSNP |
2 | g.240868867_240868868delinsTG | CA1339330732 | AGXT | c.2_3delinsTG (p.Met1=) n.22_23delinsTG n.405+1365_405+1366delinsCA | |
2 | g.240868868G>A | CA351312467 | AGXT | c.3G>A (p.Met1Ile) n.23G>A n.405+1365C>T | gnomAD v4 |
2 | g.240868868G>C | CA351312478 | AGXT | c.3G>C (p.Met1Ile) n.23G>C n.405+1365C>G | |
2 | g.240868868G= | CA1339330733 | AGXT | c.3G= (p.Met1=) n.23G= n.405+1365C= | |
2 | g.240868868G>T | CA275615 | AGXT | c.3G>T (p.Met1Ile) n.23G>T n.405+1365C>A | ClinVar dbSNP gnomAD v4 |
2 | g.240868869G>A | CA351312488 | AGXT | c.4G>A (p.Ala2Thr) n.24G>A n.405+1364C>T | gnomAD v4 |
2 | g.240868869G>C | CA351312489 | AGXT | c.4G>C (p.Ala2Pro) n.24G>C n.405+1364C>G | |
2 | g.240868869G>T | CA351312487 | AGXT | c.4G>T (p.Ala2Ser) n.24G>T n.405+1364C>A | |
2 | g.240868870C>A | CA351312490 | AGXT | c.5C>A (p.Ala2Asp) n.25C>A n.405+1363G>T | |
2 | g.240868870C>G | CA351312493 | AGXT | c.5C>G (p.Ala2Gly) n.25C>G n.405+1363G>C | |
2 | g.240868870C>T | CA351312497 | AGXT | c.5C>T (p.Ala2Val) n.25C>T n.405+1363G>A | |
2 | g.240868871C>A | CA432234687 | AGXT | c.6C>A (p.Ala2=) n.26C>A n.405+1362G>T | |
2 | g.240868871C= | CA1339330734 | AGXT | c.6C= (p.Ala2=) n.26C= n.405+1362G= | |
2 | g.240868871C>G | CA432234689 | AGXT | c.6C>G (p.Ala2=) n.26C>G n.405+1362G>C | |
2 | g.240868871C>T | CA432234692 | AGXT | c.6C>T (p.Ala2=) n.26C>T n.405+1362G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240868872T>A | CA351312498 | AGXT | c.7T>A (p.Ser3Thr) n.27T>A n.405+1361A>T | |
2 | g.240868872T>C | CA351312499 | AGXT | c.7T>C (p.Ser3Pro) n.27T>C n.405+1361A>G | dbSNP |
2 | g.240868872T>G | CA351312500 | AGXT | c.7T>G (p.Ser3Ala) n.27T>G n.405+1361A>C | |
2 | g.240868872T= | CA1339330735 | AGXT | c.7T= (p.Ser3=) n.27T= n.405+1361A= | |
2 | g.240868873C>A | CA351312501 | AGXT | c.8C>A (p.Ser3Tyr) n.28C>A n.405+1360G>T | |
2 | g.240868873C>G | CA351312502 | AGXT | c.8C>G (p.Ser3Cys) n.28C>G n.405+1360G>C | gnomAD v4 |
2 | g.240868873C>T | CA351312504 | AGXT | c.8C>T (p.Ser3Phe) n.28C>T n.405+1360G>A | |
2 | g.240868874T>A | CA432234694 | AGXT | c.9T>A (p.Ser3=) n.29T>A n.405+1359A>T | ClinVar |
2 | g.240868874T>C | CA432234695 | AGXT | c.9T>C (p.Ser3=) n.29T>C n.405+1359A>G | |
2 | g.240868874T>G | CA432234697 | AGXT | c.9T>G (p.Ser3=) n.29T>G n.405+1359A>C | |
2 | g.240868875C>A | CA351312516 | AGXT | c.10C>A (p.His4Asn) n.30C>A n.405+1358G>T | gnomAD v4 |
2 | g.240868875C>G | CA351312520 | AGXT | c.10C>G (p.His4Asp) n.30C>G n.405+1358G>C | |
2 | g.240868875C>T | CA351312524 | AGXT | c.10C>T (p.His4Tyr) n.30C>T n.405+1358G>A | gnomAD v4 |
2 | g.240868876A= | CA1339330736 | AGXT | c.11A= (p.His4=) n.31A= n.405+1357T= | |
2 | g.240868876A>C | CA351312531 | AGXT | c.11A>C (p.His4Pro) n.31A>C n.405+1357T>G | |
2 | g.240868876A>G | CA351312530 | AGXT | c.11A>G (p.His4Arg) n.31A>G n.405+1357T>C | |
2 | g.240868876A>T | CA2208960 | AGXT | c.11A>T (p.His4Leu) n.31A>T n.405+1357T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868877C>A | CA351312532 | AGXT | c.12C>A (p.His4Gln) n.32C>A n.405+1356G>T | |
2 | g.240868877C= | CA1339330737 | AGXT | c.12C= (p.His4=) n.32C= n.405+1356G= | |
2 | g.240868877C>G | CA351312534 | AGXT | c.12C>G (p.His4Gln) n.32C>G n.405+1356G>C | dbSNP gnomAD v4 |
2 | g.240868877C>T | CA432234700 | AGXT | c.12C>T (p.His4=) n.32C>T n.405+1356G>A | dbSNP |
2 | g.240868878A>C | CA351312543 | AGXT | c.13A>C (p.Lys5Gln) n.33A>C n.405+1355T>G | |
2 | g.240868878A>G | CA351312546 | AGXT | c.13A>G (p.Lys5Glu) n.33A>G n.405+1355T>C | |
2 | g.240868878A>T | CA351312549 | AGXT | c.13A>T (p.Lys5Ter) n.33A>T n.405+1355T>A | |
2 | g.240868879A= | CA1339330738 | AGXT | c.14A= (p.Lys5=) n.34A= n.405+1354T= | |
2 | g.240868879A>C | CA351312560 | AGXT | c.14A>C (p.Lys5Thr) n.34A>C n.405+1354T>G | |
2 | g.240868879A>G | CA68173417 | AGXT | c.14A>G (p.Lys5Arg) n.34A>G n.405+1354T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868879A>T | CA351312564 | AGXT | c.14A>T (p.Lys5Met) n.34A>T n.405+1354T>A | |
2 | g.240868880G>A | CA2208961 | AGXT | c.15G>A (p.Lys5=) n.35G>A n.405+1353C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |