Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240878715_240878722del | CA2695197713 | AGXT | c.1073_1080del n.851_858del | |
2 | g.240878721_240878740del | CA2664012357 | AGXT | c.1079_1098del (p.Arg360GlnfsTer?) n.857_876del | gnomAD v4 |
2 | g.240878718T>A | CA351319726 | AGXT | c.1076T>A (p.Leu359Gln) n.854T>A | |
2 | g.240878718T>C | CA275781 | AGXT | c.1076T>C (p.Leu359Pro) n.854T>C | ClinVar dbSNP gnomAD v4 |
2 | g.240878718T>G | CA351319727 | AGXT | c.1076T>G (p.Leu359Arg) n.854T>G | dbSNP gnomAD v4 |
2 | g.240878718T= | CA1339336118 | AGXT | c.1076T= (p.Leu359=) n.854T= | |
2 | g.240878719G>A | CA2209413 | AGXT | c.1077G>A (p.Leu359=) n.855G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878719G>C | CA432026926 | AGXT | c.1077G>C (p.Leu359=) n.855G>C | |
2 | g.240878719G= | CA1339336119 | AGXT | c.1077G= (p.Leu359=) n.855G= | |
2 | g.240878719G>T | CA432026928 | AGXT | c.1077G>T (p.Leu359=) n.855G>T | gnomAD v4 |
2 | g.240878720C>A | CA432026929 | AGXT | c.1078C>A (p.Arg360=) n.856C>A | gnomAD v4 |
2 | g.240878720C= | CA1339336120 | AGXT | c.1078C= (p.Arg360=) n.856C= | |
2 | g.240878720C>G | CA351319728 | AGXT | c.1078C>G (p.Arg360Gly) n.856C>G | |
2 | g.240878720C>T | CA2209414 | AGXT | c.1078C>T (p.Arg360Trp) n.856C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.240878721G>A | CA275783 | AGXT | c.1079G>A (p.Arg360Gln) n.857G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878721G>C | CA351319729 | AGXT | c.1079G>C (p.Arg360Pro) n.857G>C | ClinVar dbSNP |
2 | g.240878721G= | CA1339336121 | AGXT | c.1079G= (p.Arg360=) n.857G= | |
2 | g.240878721G>T | CA351319730 | AGXT | c.1079G>T (p.Arg360Leu) n.857G>T | dbSNP gnomAD v4 |
2 | g.240878722G>A | CA432026935 | AGXT | c.1080G>A (p.Arg360=) n.858G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878722G>C | CA432026936 | AGXT | c.1080G>C (p.Arg360=) n.858G>C | |
2 | g.240878722G= | CA1339336122 | AGXT | c.1080G= (p.Arg360=) n.858G= | |
2 | g.240878722G>T | CA432026939 | AGXT | c.1080G>T (p.Arg360=) n.858G>T | gnomAD v4 |
2 | g.240878723A>C | CA351319731 | AGXT | c.1081A>C (p.Ile361Leu) n.859A>C | |
2 | g.240878723A>G | CA351319732 | AGXT | c.1081A>G (p.Ile361Val) n.859A>G | |
2 | g.240878723A>T | CA351319733 | AGXT | c.1081A>T (p.Ile361Phe) n.859A>T | |
2 | g.240878724T>A | CA351319734 | AGXT | c.1082T>A (p.Ile361Asn) n.860T>A | |
2 | g.240878724T>C | CA351319736 | AGXT | c.1082T>C (p.Ile361Thr) n.860T>C | |
2 | g.240878724T>G | CA351319735 | AGXT | c.1082T>G (p.Ile361Ser) n.860T>G | |
2 | g.240878725C>A | CA432026948 | AGXT | c.1083C>A (p.Ile361=) n.861C>A | gnomAD v4 |
2 | g.240878725C= | CA1339336123 | AGXT | c.1083C= (p.Ile361=) n.861C= | |
2 | g.240878725C>G | CA351319737 | AGXT | c.1083C>G (p.Ile361Met) n.861C>G | |
2 | g.240878725C>T | CA432026955 | AGXT | c.1083C>T (p.Ile361=) n.861C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878726G>A | CA2209415 | AGXT | c.1084G>A (p.Gly362Ser) n.862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878726G>C | CA351319738 | AGXT | c.1084G>C (p.Gly362Arg) n.862G>C | gnomAD v4 |
2 | g.240878726G= | CA1339336124 | AGXT | c.1084G= (p.Gly362=) n.862G= | |
2 | g.240878726G>T | CA351319739 | AGXT | c.1084G>T (p.Gly362Cys) n.862G>T | gnomAD v4 |
2 | g.240878729_240878737del | CA2586971647 | AGXT | c.1087_1095del (p.Leu363_Gly365del) n.865_873del | |
2 | g.240878727G>A | CA351319740 | AGXT | c.1085G>A (p.Gly362Asp) n.863G>A | gnomAD v4 |
2 | g.240878727G>C | CA351319742 | AGXT | c.1085G>C (p.Gly362Ala) n.863G>C | |
2 | g.240878727G>T | CA351319741 | AGXT | c.1085G>T (p.Gly362Val) n.863G>T | gnomAD v4 |
2 | g.240878728C>A | CA432026966 | AGXT | c.1086C>A (p.Gly362=) n.864C>A | |
2 | g.240878728C>G | CA432026965 | AGXT | c.1086C>G (p.Gly362=) n.864C>G | |
2 | g.240878728C>T | CA432026963 | AGXT | c.1086C>T (p.Gly362=) n.864C>T | gnomAD v4 |
2 | g.240878729C>A | CA351319743 | AGXT | c.1087C>A (p.Leu363Met) n.865C>A | |
2 | g.240878729C>G | CA351319744 | AGXT | c.1087C>G (p.Leu363Val) n.865C>G | |
2 | g.240878729C>T | CA432026969 | AGXT | c.1087C>T (p.Leu363=) n.865C>T | |
2 | g.240878730T>A | CA351319745 | AGXT | c.1088T>A (p.Leu363Gln) n.866T>A | gnomAD v4 |
2 | g.240878730T>C | CA351319746 | AGXT | c.1088T>C (p.Leu363Pro) n.866T>C | |
2 | g.240878730T>G | CA351319747 | AGXT | c.1088T>G (p.Leu363Arg) n.866T>G | |
2 | g.240878731G>A | CA432026974 | AGXT | c.1089G>A (p.Leu363=) n.867G>A | gnomAD v4 |