Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240868866_240871449del | CA2741808836 | AGXT | c.1_524del n.21_544del | |
2 | g.240868884C>A | CA351312662 | AGXT | c.19C>A (p.Leu7Met) n.39C>A n.405+1349G>T | |
2 | g.240868884C>G | CA351312665 | AGXT | c.19C>G (p.Leu7Val) n.39C>G n.405+1349G>C | |
2 | g.240868884C>T | CA432234714 | AGXT | c.19C>T (p.Leu7=) n.39C>T n.405+1349G>A | |
2 | g.240868885T>A | CA351312672 | AGXT | c.20T>A (p.Leu7Gln) n.40T>A n.405+1348A>T | |
2 | g.240868885T>C | CA351312674 | AGXT | c.20T>C (p.Leu7Pro) n.40T>C n.405+1348A>G | |
2 | g.240868885T>G | CA351312676 | AGXT | c.20T>G (p.Leu7Arg) n.40T>G n.405+1348A>C | |
2 | g.240868886G>A | CA432234716 | AGXT | c.21G>A (p.Leu7=) n.41G>A n.405+1347C>T | dbSNP |
2 | g.240868886G>C | CA432234717 | AGXT | c.21G>C (p.Leu7=) n.41G>C n.405+1347C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240868886G= | CA1339330742 | AGXT | c.21G= (p.Leu7=) n.41G= n.405+1347C= | |
2 | g.240868886G>T | CA432234719 | AGXT | c.21G>T (p.Leu7=) n.41G>T n.405+1347C>A | ClinVar dbSNP |
2 | g.240868887G>A | CA351312679 | AGXT | c.22G>A (p.Val8Met) n.42G>A n.405+1346C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240868887G>C | CA275617 | AGXT | c.22G>C (p.Val8Leu) n.42G>C n.405+1346C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240868887G= | CA1339330743 | AGXT | c.22G= (p.Val8=) n.42G= n.405+1346C= | |
2 | g.240868887G>T | CA351312678 | AGXT | c.22G>T (p.Val8Leu) n.42G>T n.405+1346C>A | dbSNP |
2 | g.240868888T>A | CA351312680 | AGXT | c.23T>A (p.Val8Glu) n.43T>A n.405+1345A>T | |
2 | g.240868888T>C | CA351312684 | AGXT | c.23T>C (p.Val8Ala) n.43T>C n.405+1345A>G | |
2 | g.240868888T>G | CA351312687 | AGXT | c.23T>G (p.Val8Gly) n.43T>G n.405+1345A>C | |
2 | g.240868888_240868889delinsAT | CA2586971624 | AGXT | c.23_24delinsAT (p.Val8Asp) n.43_44delinsAT n.405+1344_405+1345delinsAT | ClinVar |
2 | g.240868889G>A | CA432234723 | AGXT | c.24G>A (p.Val8=) n.44G>A n.405+1344C>T | gnomAD v4 |
2 | g.240868889G>C | CA432234725 | AGXT | c.24G>C (p.Val8=) n.44G>C n.405+1344C>G | |
2 | g.240868889G>T | CA432234726 | AGXT | c.24G>T (p.Val8=) n.44G>T n.405+1344C>A | |
2 | g.240868889_240868890insC | CA2586971626 | AGXT | c.24_25insC (p.Thr9HisfsTer?) n.44_45insC n.405+1343_405+1344insG | |
2 | g.240868890A= | CA1339330745 | AGXT | c.25A= (p.Thr9=) n.45A= n.405+1343T= | |
2 | g.240868890A>C | CA351312688 | AGXT | c.25A>C (p.Thr9Pro) n.45A>C n.405+1343T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240868890A>G | CA351312689 | AGXT | c.25A>G (p.Thr9Ala) n.45A>G n.405+1343T>C | dbSNP |
2 | g.240868890A>T | CA351312690 | AGXT | c.25A>T (p.Thr9Ser) n.45A>T n.405+1343T>A | gnomAD v4 |
2 | g.240868890_240868892delinsACC | CA1339330744 | AGXT | c.25_27delinsACC (p.Thr9=) n.45_47delinsACC n.405+1341_405+1343delinsGGT | |
2 | g.240868891C>A | CA275540 | AGXT | c.26C>A (p.Thr9Asn) n.46C>A n.405+1342G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868891C= | CA1339330746 | AGXT | c.26C= (p.Thr9=) n.46C= n.405+1342G= | |
2 | g.240868891C>G | CA351312710 | AGXT | c.26C>G (p.Thr9Ser) n.46C>G n.405+1342G>C | dbSNP |
2 | g.240868891C>T | CA351312704 | AGXT | c.26C>T (p.Thr9Ile) n.46C>T n.405+1342G>A | dbSNP gnomAD v4 |
2 | g.240868898dup | CA345700 | AGXT | c.33dup (p.Lys12GlnfsTer?) n.53dup n.405+1342dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.240868897_240868898dup | CA2664004508 | AGXT | c.32_33dup (p.Lys12ProfsTer?) n.52_53dup n.405+1341_405+1342dup | gnomAD v4 |
2 | g.240868898del | CA273942 | AGXT | c.33del (p.Lys12ArgfsTer?) n.53del n.405+1342del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240868897_240868898del | CA275814 | AGXT | c.32_33del (p.Pro11GlnfsTer?) n.52_53del n.405+1341_405+1342del | ClinVar dbSNP |
2 | g.240868891_240868892insA | CA2573135689 | AGXT | c.26_27insA (p.Lys12GlnfsTer?) n.46_47insA n.405+1341_405+1342insT | ClinVar dbSNP |
2 | g.240868892C>A | CA275541 | AGXT | c.27C>A (p.Thr9=) n.47C>A n.405+1341G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868892C= | CA1339330747 | AGXT | c.27C= (p.Thr9=) n.47C= n.405+1341G= | |
2 | g.240868892C>G | CA2208962 | AGXT | c.27C>G (p.Thr9=) n.47C>G n.405+1341G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868892C>T | CA432234736 | AGXT | c.27C>T (p.Thr9=) n.47C>T n.405+1341G>A | ClinVar dbSNP COSMIC |
2 | g.240868893C>A | CA2208963 | AGXT | c.28C>A (p.Pro10Thr) n.48C>A n.405+1340G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868893C= | CA1339330748 | AGXT | c.28C= (p.Pro10=) n.48C= n.405+1340G= | |
2 | g.240868893C>G | CA2208964 | AGXT | c.28C>G (p.Pro10Ala) n.48C>G n.405+1340G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868893C>T | CA275619 | AGXT | c.28C>T (p.Pro10Ser) n.48C>T n.405+1340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868893_240868894delinsA | CA2586971627 | AGXT | c.28_29delinsA (p.Pro10ThrfsTer?) n.48_49delinsA n.405+1339_405+1340delinsT | ClinVar |
2 | g.240868894C>A | CA2208965 | AGXT | c.29C>A (p.Pro10His) n.49C>A n.405+1339G>T | dbSNP ExAC gnomAD v2 |
2 | g.240868894C= | CA1339330749 | AGXT | c.29C= (p.Pro10=) n.49C= n.405+1339G= | |
2 | g.240868894C>G | CA351312723 | AGXT | c.29C>G (p.Pro10Arg) n.49C>G n.405+1339G>C | |
2 | g.240868894C>T | CA351312726 | AGXT | c.29C>T (p.Pro10Leu) n.49C>T n.405+1339G>A | dbSNP gnomAD v2 gnomAD v4 |