| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.230710463del | CA2650971415 | AGT | c.364del (p.Ala122ProfsTer?) n.875del c.391del (p.Ala131ProfsTer?) | gnomAD v4 |
| 1 | g.230710462C>A | CA345206792 | AGT | c.362G>T (p.Gly121Val) n.873G>T c.389G>T (p.Gly130Val) | |
| 1 | g.230710462C>G | CA345206791 | AGT | c.362G>C (p.Gly121Ala) n.873G>C c.389G>C (p.Gly130Ala) | |
| 1 | g.230710462C>T | CA345206793 | AGT | c.362G>A (p.Gly121Glu) n.873G>A c.389G>A (p.Gly130Glu) | |
| 1 | g.230710463C>A | CA345206794 | AGT | c.361G>T (p.Gly121Trp) n.872G>T c.388G>T (p.Gly130Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710463C= | CA1226669751 | AGT | c.361G= (p.Gly121=) n.872G= c.388G= (p.Gly130=) | |
| 1 | g.230710463C>G | CA345206795 | AGT | c.361G>C (p.Gly121Arg) n.872G>C c.388G>C (p.Gly130Arg) | |
| 1 | g.230710463C>T | CA345206796 | AGT | c.361G>A (p.Gly121Arg) n.872G>A c.388G>A (p.Gly130Arg) | |
| 1 | g.230710464A>C | CA345206797 | AGT | c.360T>G (p.His120Gln) n.871T>G c.387T>G (p.His129Gln) | gnomAD v4 |
| 1 | g.230710464A>G | CA424036909 | AGT | c.360T>C (p.His120=) n.871T>C c.387T>C (p.His129=) | gnomAD v4 |
| 1 | g.230710464A>T | CA345206798 | AGT | c.360T>A (p.His120Gln) n.871T>A c.387T>A (p.His129Gln) | |
| 1 | g.230710465T>A | CA345206799 | AGT | c.359A>T (p.His120Leu) n.870A>T c.386A>T (p.His129Leu) | gnomAD v4 |
| 1 | g.230710465T>C | CA1448316 | AGT | c.359A>G (p.His120Arg) n.870A>G c.386A>G (p.His129Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710465T>G | CA345206800 | AGT | c.359A>C (p.His120Pro) n.870A>C c.386A>C (p.His129Pro) | dbSNP gnomAD v4 |
| 1 | g.230710465T= | CA1226669752 | AGT | c.359A= (p.His120=) n.870A= c.386A= (p.His129=) | |
| 1 | g.230710466G>A | CA38871904 | AGT | c.358C>T (p.His120Tyr) n.869C>T c.385C>T (p.His129Tyr) | dbSNP |
| 1 | g.230710466G>C | CA345206801 | AGT | c.358C>G (p.His120Asp) n.869C>G c.385C>G (p.His129Asp) | |
| 1 | g.230710466G= | CA1226669753 | AGT | c.358C= (p.His120=) n.869C= c.385C= (p.His129=) | |
| 1 | g.230710466G>T | CA345206802 | AGT | c.358C>A (p.His120Asn) n.869C>A c.385C>A (p.His129Asn) | |
| 1 | g.230710467G>A | CA424036918 | AGT | c.357C>T (p.Val119=) n.868C>T c.384C>T (p.Val128=) | gnomAD v3 gnomAD v4 |
| 1 | g.230710467G>C | CA424036919 | AGT | c.357C>G (p.Val119=) n.868C>G c.384C>G (p.Val128=) | |
| 1 | g.230710467G>T | CA424036917 | AGT | c.357C>A (p.Val119=) n.868C>A c.384C>A (p.Val128=) | |
| 1 | g.230710468A>C | CA345206805 | AGT | c.356T>G (p.Val119Gly) n.867T>G c.383T>G (p.Val128Gly) | |
| 1 | g.230710468A>G | CA345206803 | AGT | c.356T>C (p.Val119Ala) n.867T>C c.383T>C (p.Val128Ala) | gnomAD v4 |
| 1 | g.230710468A>T | CA345206804 | AGT | c.356T>A (p.Val119Asp) n.867T>A c.383T>A (p.Val128Asp) | |
| 1 | g.230710469C>A | CA345206806 | AGT | c.355G>T (p.Val119Phe) n.866G>T c.382G>T (p.Val128Phe) | |
| 1 | g.230710469C= | CA1226669754 | AGT | c.355G= (p.Val119=) n.866G= c.382G= (p.Val128=) | |
| 1 | g.230710469C>G | CA345206807 | AGT | c.355G>C (p.Val119Leu) n.866G>C c.382G>C (p.Val128Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710469C>T | CA1448317 | AGT | c.355G>A (p.Val119Ile) n.866G>A c.382G>A (p.Val128Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710470C>A | CA424036929 | AGT | c.354G>T (p.Val118=) n.865G>T c.381G>T (p.Val127=) | |
| 1 | g.230710470C>G | CA424036931 | AGT | c.354G>C (p.Val118=) n.865G>C c.381G>C (p.Val127=) | |
| 1 | g.230710470C>T | CA424036934 | AGT | c.354G>A (p.Val118=) n.865G>A c.381G>A (p.Val127=) | gnomAD v4 |
| 1 | g.230710471A>C | CA345206808 | AGT | c.353T>G (p.Val118Gly) n.864T>G c.380T>G (p.Val127Gly) | |
| 1 | g.230710471A>G | CA345206809 | AGT | c.353T>C (p.Val118Ala) n.864T>C c.380T>C (p.Val127Ala) | |
| 1 | g.230710471A>T | CA345206810 | AGT | c.353T>A (p.Val118Glu) n.864T>A c.380T>A (p.Val127Glu) | |
| 1 | g.230710472C>A | CA345206811 | AGT | c.352G>T (p.Val118Leu) n.863G>T c.379G>T (p.Val127Leu) | |
| 1 | g.230710472C= | CA1143662793 | AGT | c.352G= (p.Val118=) n.863G= c.379G= (p.Val127=) | |
| 1 | g.230710472C>G | CA345206812 | AGT | c.352G>C (p.Val118Leu) n.863G>C c.379G>C (p.Val127Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710472C>T | CA1448318 | AGT | c.352G>A (p.Val118Met) n.863G>A c.379G>A (p.Val127Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710473G>A | CA1448319 | AGT | c.351C>T (p.Gly117=) n.862C>T c.378C>T (p.Gly126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710473G>C | CA424036940 | AGT | c.351C>G (p.Gly117=) n.862C>G c.378C>G (p.Gly126=) | |
| 1 | g.230710473G= | CA1141916572 | AGT | c.351C= (p.Gly117=) n.862C= c.378C= (p.Gly126=) | |
| 1 | g.230710473G>T | CA424036941 | AGT | c.351C>A (p.Gly117=) n.862C>A c.378C>A (p.Gly126=) | |
| 1 | g.230710473_230710474delinsGC | CA1226669755 | AGT | c.350_351delinsGC (p.Gly117=) n.861_862delinsGC c.377_378delinsGC (p.Gly126=) | |
| 1 | g.230710474C>A | CA345206814 | AGT | c.350G>T (p.Gly117Val) n.861G>T c.377G>T (p.Gly126Val) | gnomAD v4 |
| 1 | g.230710474C>G | CA345206815 | AGT | c.350G>C (p.Gly117Ala) n.861G>C c.377G>C (p.Gly126Ala) | |
| 1 | g.230710474C>T | CA345206813 | AGT | c.350G>A (p.Gly117Asp) n.861G>A c.377G>A (p.Gly126Asp) | |
| 1 | g.230710477del | CA38871920 | AGT | c.350del (p.Gly117AlafsTer?) n.861del c.377del (p.Gly126AlafsTer?) | dbSNP |
| 1 | g.230710475C>A | CA345206816 | AGT | c.349G>T (p.Gly117Cys) n.860G>T c.376G>T (p.Gly126Cys) | |
| 1 | g.230710475C= | CA1226669756 | AGT | c.349G= (p.Gly117=) n.860G= c.376G= (p.Gly126=) | |
| 1 | g.230710475C>G | CA345206817 | AGT | c.349G>C (p.Gly117Arg) n.860G>C c.376G>C (p.Gly126Arg) | |
| 1 | g.230710475C>T | CA38871924 | AGT | c.349G>A (p.Gly117Ser) n.860G>A c.376G>A (p.Gly126Ser) | dbSNP |
| 1 | g.230710476C>A | CA345206818 | AGT | c.348G>T (p.Trp116Cys) n.859G>T c.375G>T (p.Trp125Cys) | |
| 1 | g.230710476C>G | CA345206819 | AGT | c.348G>C (p.Trp116Cys) n.859G>C c.375G>C (p.Trp125Cys) | |
| 1 | g.230710476C>T | CA345206820 | AGT | c.348G>A (p.Trp116Ter) n.859G>A c.375G>A (p.Trp125Ter) | |
| 1 | g.230710477C>A | CA345206821 | AGT | c.347G>T (p.Trp116Leu) n.858G>T c.374G>T (p.Trp125Leu) | |
| 1 | g.230710477C>G | CA345206822 | AGT | c.347G>C (p.Trp116Ser) n.858G>C c.374G>C (p.Trp125Ser) | |
| 1 | g.230710477C>T | CA345206823 | AGT | c.347G>A (p.Trp116Ter) n.858G>A c.374G>A (p.Trp125Ter) | |
| 1 | g.230710478A>C | CA345206824 | AGT | c.346T>G (p.Trp116Gly) n.857T>G c.373T>G (p.Trp125Gly) | |
| 1 | g.230710478A>G | CA345206825 | AGT | c.346T>C (p.Trp116Arg) n.857T>C c.373T>C (p.Trp125Arg) | gnomAD v4 |
| 1 | g.230710478A>T | CA345206826 | AGT | c.346T>A (p.Trp116Arg) n.857T>A c.373T>A (p.Trp125Arg) | |
| 1 | g.230710479T>A | CA424036951 | AGT | c.345A>T (p.Leu115=) n.856A>T c.372A>T (p.Leu124=) | |
| 1 | g.230710479T>C | CA424036952 | AGT | c.345A>G (p.Leu115=) n.856A>G c.372A>G (p.Leu124=) | |
| 1 | g.230710479T>G | CA424036954 | AGT | c.345A>C (p.Leu115=) n.856A>C c.372A>C (p.Leu124=) | |
| 1 | g.230710480A>C | CA345206829 | AGT | c.344T>G (p.Leu115Arg) n.855T>G c.371T>G (p.Leu124Arg) | |
| 1 | g.230710480A>G | CA345206827 | AGT | c.344T>C (p.Leu115Pro) n.855T>C c.371T>C (p.Leu124Pro) | |
| 1 | g.230710480A>T | CA345206828 | AGT | c.344T>A (p.Leu115Gln) n.855T>A c.371T>A (p.Leu124Gln) | |
| 1 | g.230710481G>A | CA424036957 | AGT | c.343C>T (p.Leu115=) n.854C>T c.370C>T (p.Leu124=) | |
| 1 | g.230710481G>C | CA345206830 | AGT | c.343C>G (p.Leu115Val) n.854C>G c.370C>G (p.Leu124Val) | |
| 1 | g.230710481G>T | CA345206831 | AGT | c.343C>A (p.Leu115Ile) n.854C>A c.370C>A (p.Leu124Ile) | |
| 1 | g.230710482C>A | CA345206832 | AGT | c.342G>T (p.Glu114Asp) n.853G>T c.369G>T (p.Glu123Asp) | dbSNP |
| 1 | g.230710482C= | CA1226669757 | AGT | c.342G= (p.Glu114=) n.853G= c.369G= (p.Glu123=) | |
| 1 | g.230710482C>G | CA345206833 | AGT | c.342G>C (p.Glu114Asp) n.853G>C c.369G>C (p.Glu123Asp) | dbSNP gnomAD v2 |
| 1 | g.230710482C>T | CA424036958 | AGT | c.342G>A (p.Glu114=) n.853G>A c.369G>A (p.Glu123=) | |
| 1 | g.230710483T>A | CA345206834 | AGT | c.341A>T (p.Glu114Val) n.852A>T c.368A>T (p.Glu123Val) | |
| 1 | g.230710483T>C | CA345206835 | AGT | c.341A>G (p.Glu114Gly) n.852A>G c.368A>G (p.Glu123Gly) | |
| 1 | g.230710483T>G | CA345206836 | AGT | c.341A>C (p.Glu114Ala) n.852A>C c.368A>C (p.Glu123Ala) | |
| 1 | g.230710484C>A | CA345206837 | AGT | c.340G>T (p.Glu114Ter) n.851G>T c.367G>T (p.Glu123Ter) | |
| 1 | g.230710484C= | CA1142290066 | AGT | c.340G= (p.Glu114=) n.851G= c.367G= (p.Glu123=) | |
| 1 | g.230710484C>G | CA345206838 | AGT | c.340G>C (p.Glu114Gln) n.851G>C c.367G>C (p.Glu123Gln) | |
| 1 | g.230710484C>T | CA38871936 | AGT | c.340G>A (p.Glu114Lys) n.851G>A c.367G>A (p.Glu123Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710485A>C | CA345206839 | AGT | c.339T>G (p.Ser113Arg) n.850T>G c.366T>G (p.Ser122Arg) | |
| 1 | g.230710485A>G | CA424036964 | AGT | c.339T>C (p.Ser113=) n.850T>C c.366T>C (p.Ser122=) | |
| 1 | g.230710485A>T | CA345206840 | AGT | c.339T>A (p.Ser113Arg) n.850T>A c.366T>A (p.Ser122Arg) | |
| 1 | g.230710486C>A | CA345206841 | AGT | c.338G>T (p.Ser113Ile) n.849G>T c.365G>T (p.Ser122Ile) | gnomAD v4 |
| 1 | g.230710486C= | CA1226669758 | AGT | c.338G= (p.Ser113=) n.849G= c.365G= (p.Ser122=) | |
| 1 | g.230710486C>G | CA345206842 | AGT | c.338G>C (p.Ser113Thr) n.849G>C c.365G>C (p.Ser122Thr) | |
| 1 | g.230710486C>T | CA1448320 | AGT | c.338G>A (p.Ser113Asn) n.849G>A c.365G>A (p.Ser122Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710487T>A | CA345206843 | AGT | c.337A>T (p.Ser113Cys) n.848A>T c.364A>T (p.Ser122Cys) | |
| 1 | g.230710487T>C | CA345206844 | AGT | c.337A>G (p.Ser113Gly) n.848A>G c.364A>G (p.Ser122Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710487T>G | CA345206845 | AGT | c.337A>C (p.Ser113Arg) n.848A>C c.364A>C (p.Ser122Arg) | |
| 1 | g.230710487T= | CA1226669759 | AGT | c.337A= (p.Ser113=) n.848A= c.364A= (p.Ser122=) | |
| 1 | g.230710488G>A | CA38871946 | AGT | c.336C>T (p.His112=) n.847C>T c.363C>T (p.His121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710488G>C | CA345206846 | AGT | c.336C>G (p.His112Gln) n.847C>G c.363C>G (p.His121Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710488G= | CA1148433653 | AGT | c.336C= (p.His112=) n.847C= c.363C= (p.His121=) | |
| 1 | g.230710488G>T | CA345206847 | AGT | c.336C>A (p.His112Gln) n.847C>A c.363C>A (p.His121Gln) | |
| 1 | g.230710489T>A | CA345206848 | AGT | c.335A>T (p.His112Leu) n.846A>T c.362A>T (p.His121Leu) | COSMIC |
| 1 | g.230710489T>C | CA345206849 | AGT | c.335A>G (p.His112Arg) n.846A>G c.362A>G (p.His121Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710489T>G | CA345206850 | AGT | c.335A>C (p.His112Pro) n.846A>C c.362A>C (p.His121Pro) | |
| 1 | g.230710489T= | CA1226669760 | AGT | c.335A= (p.His112=) n.846A= c.362A= (p.His121=) | |
| 1 | g.230710490G>A | CA345206851 | AGT | c.334C>T (p.His112Tyr) n.845C>T c.361C>T (p.His121Tyr) | |
| 1 | g.230710490G>C | CA345206852 | AGT | c.334C>G (p.His112Asp) n.845C>G c.361C>G (p.His121Asp) | |
| 1 | g.230710490G>T | CA345206853 | AGT | c.334C>A (p.His112Asn) n.845C>A c.361C>A (p.His121Asn) | |
| 1 | g.230710491C>A | CA345206856 | AGT | c.333G>T (p.Met111Ile) n.844G>T c.360G>T (p.Met120Ile) | |
| 1 | g.230710491C>G | CA345206855 | AGT | c.333G>C (p.Met111Ile) n.844G>C c.360G>C (p.Met120Ile) | |
| 1 | g.230710491C>T | CA345206854 | AGT | c.333G>A (p.Met111Ile) n.844G>A c.360G>A (p.Met120Ile) | |
| 1 | g.230710492A= | CA1226669761 | AGT | c.332T= (p.Met111=) n.843T= c.359T= (p.Met120=) | |
| 1 | g.230710492A>C | CA345206857 | AGT | c.332T>G (p.Met111Arg) n.843T>G c.359T>G (p.Met120Arg) | gnomAD v4 |
| 1 | g.230710492A>G | CA345206858 | AGT | c.332T>C (p.Met111Thr) n.843T>C c.359T>C (p.Met120Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710492A>T | CA345206859 | AGT | c.332T>A (p.Met111Lys) n.843T>A c.359T>A (p.Met120Lys) | |
| 1 | g.230710493T>A | CA1448321 | AGT | c.331A>T (p.Met111Leu) n.842A>T c.358A>T (p.Met120Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710493T>C | CA345206860 | AGT | c.331A>G (p.Met111Val) n.842A>G c.358A>G (p.Met120Val) | gnomAD v4 |
| 1 | g.230710493T>G | CA345206861 | AGT | c.331A>C (p.Met111Leu) n.842A>C c.358A>C (p.Met120Leu) | |
| 1 | g.230710493T= | CA1148299232 | AGT | c.331A= (p.Met111=) n.842A= c.358A= (p.Met120=) | |
| 1 | g.230710494G>A | CA424036986 | AGT | c.330C>T (p.Gly110=) n.841C>T c.357C>T (p.Gly119=) | gnomAD v4 |
| 1 | g.230710494G>C | CA424036987 | AGT | c.330C>G (p.Gly110=) n.841C>G c.357C>G (p.Gly119=) | |
| 1 | g.230710494G>T | CA424036988 | AGT | c.330C>A (p.Gly110=) n.841C>A c.357C>A (p.Gly119=) | COSMIC |
| 1 | g.230710495C>A | CA345206862 | AGT | c.329G>T (p.Gly110Val) n.840G>T c.356G>T (p.Gly119Val) | gnomAD v4 |
| 1 | g.230710495C>G | CA345206863 | AGT | c.329G>C (p.Gly110Ala) n.840G>C c.356G>C (p.Gly119Ala) | gnomAD v4 |
| 1 | g.230710495C>T | CA345206864 | AGT | c.329G>A (p.Gly110Asp) n.840G>A c.356G>A (p.Gly119Asp) | |
| 1 | g.230710496C>A | CA345206865 | AGT | c.328G>T (p.Gly110Cys) n.839G>T c.355G>T (p.Gly119Cys) | |
| 1 | g.230710496C>G | CA345206866 | AGT | c.328G>C (p.Gly110Arg) n.839G>C c.355G>C (p.Gly119Arg) | |
| 1 | g.230710496C>T | CA345206867 | AGT | c.328G>A (p.Gly110Ser) n.839G>A c.355G>A (p.Gly119Ser) | |
| 1 | g.230710497A>C | CA345206868 | AGT | c.327T>G (p.Tyr109Ter) n.838T>G c.354T>G (p.Tyr118Ter) | |
| 1 | g.230710497A>G | CA424036992 | AGT | c.327T>C (p.Tyr109=) n.838T>C c.354T>C (p.Tyr118=) | |
| 1 | g.230710497A>T | CA345206869 | AGT | c.327T>A (p.Tyr109Ter) n.838T>A c.354T>A (p.Tyr118Ter) | |
| 1 | g.230710498T>A | CA345206871 | AGT | c.326A>T (p.Tyr109Phe) n.837A>T c.353A>T (p.Tyr118Phe) | |
| 1 | g.230710498T>C | CA345206872 | AGT | c.326A>G (p.Tyr109Cys) n.837A>G c.353A>G (p.Tyr118Cys) | |
| 1 | g.230710498T>G | CA345206870 | AGT | c.326A>C (p.Tyr109Ser) n.837A>C c.353A>C (p.Tyr118Ser) | |
| 1 | g.230710499A= | CA1226669762 | AGT | c.325T= (p.Tyr109=) n.836T= c.352T= (p.Tyr118=) | |
| 1 | g.230710499A>C | CA345206873 | AGT | c.325T>G (p.Tyr109Asp) n.836T>G c.352T>G (p.Tyr118Asp) | |
| 1 | g.230710499A>G | CA345206874 | AGT | c.325T>C (p.Tyr109His) n.836T>C c.352T>C (p.Tyr118His) | dbSNP |
| 1 | g.230710499A>T | CA345206875 | AGT | c.325T>A (p.Tyr109Asn) n.836T>A c.352T>A (p.Tyr118Asn) | |
| 1 | g.230710500T>A | CA424036999 | AGT | c.324A>T (p.Ile108=) n.835A>T c.351A>T (p.Ile117=) | |
| 1 | g.230710500T>C | CA345206876 | AGT | c.324A>G (p.Ile108Met) n.835A>G c.351A>G (p.Ile117Met) | gnomAD v4 COSMIC |
| 1 | g.230710500T>G | CA424037000 | AGT | c.324A>C (p.Ile108=) n.835A>C c.351A>C (p.Ile117=) | |
| 1 | g.230710501A= | CA1143380462 | AGT | c.323T= (p.Ile108=) n.834T= c.350T= (p.Ile117=) | |
| 1 | g.230710501A>C | CA38871950 | AGT | c.323T>G (p.Ile108Arg) n.834T>G c.350T>G (p.Ile117Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.230710501A>G | CA345206877 | AGT | c.323T>C (p.Ile108Thr) n.834T>C c.350T>C (p.Ile117Thr) | |
| 1 | g.230710501A>T | CA345206878 | AGT | c.323T>A (p.Ile108Lys) n.834T>A c.350T>A (p.Ile117Lys) | |
| 1 | g.230710502T>A | CA345206879 | AGT | c.322A>T (p.Ile108Leu) n.833A>T c.349A>T (p.Ile117Leu) | |
| 1 | g.230710502T>C | CA345206880 | AGT | c.322A>G (p.Ile108Val) n.833A>G c.349A>G (p.Ile117Val) | gnomAD v4 |
| 1 | g.230710502T>G | CA345206881 | AGT | c.322A>C (p.Ile108Leu) n.833A>C c.349A>C (p.Ile117Leu) | |
| 1 | g.230710503A>C | CA424037005 | AGT | c.321T>G (p.Arg107=) n.832T>G c.348T>G (p.Arg116=) | |
| 1 | g.230710503A>G | CA424037006 | AGT | c.321T>C (p.Arg107=) n.832T>C c.348T>C (p.Arg116=) | |
| 1 | g.230710503A>T | CA424037007 | AGT | c.321T>A (p.Arg107=) n.832T>A c.348T>A (p.Arg116=) | gnomAD v4 |
| 1 | g.230710504C>A | CA1448323 | AGT | c.320G>T (p.Arg107Leu) n.831G>T c.347G>T (p.Arg116Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710504C= | CA1226669763 | AGT | c.320G= (p.Arg107=) n.831G= c.347G= (p.Arg116=) | |
| 1 | g.230710504C>G | CA345206882 | AGT | c.320G>C (p.Arg107Pro) n.831G>C c.347G>C (p.Arg116Pro) | |
| 1 | g.230710504C>T | CA1448322 | AGT | c.320G>A (p.Arg107His) n.831G>A c.347G>A (p.Arg116His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710505G>A | CA1448324 | AGT | c.319C>T (p.Arg107Cys) n.830C>T c.346C>T (p.Arg116Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710505G>C | CA345206886 | AGT | c.319C>G (p.Arg107Gly) n.830C>G c.346C>G (p.Arg116Gly) | |
| 1 | g.230710505G= | CA1142173777 | AGT | c.319C= (p.Arg107=) n.830C= c.346C= (p.Arg116=) | |
| 1 | g.230710505G>T | CA345206884 | AGT | c.319C>A (p.Arg107Ser) n.830C>A c.346C>A (p.Arg116Ser) | gnomAD v4 |
| 1 | g.230710506G>A | CA424037011 | AGT | c.318C>T (p.Phe106=) n.829C>T c.345C>T (p.Phe115=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710506G>C | CA345206887 | AGT | c.318C>G (p.Phe106Leu) n.829C>G c.345C>G (p.Phe115Leu) | |
| 1 | g.230710506G= | CA1226669764 | AGT | c.318C= (p.Phe106=) n.829C= c.345C= (p.Phe115=) | |
| 1 | g.230710506G>T | CA345206890 | AGT | c.318C>A (p.Phe106Leu) n.829C>A c.345C>A (p.Phe115Leu) | gnomAD v4 |
| 1 | g.230710507A>C | CA345206892 | AGT | c.317T>G (p.Phe106Cys) n.828T>G c.344T>G (p.Phe115Cys) | |
| 1 | g.230710507A>G | CA345206894 | AGT | c.317T>C (p.Phe106Ser) n.828T>C c.344T>C (p.Phe115Ser) | |
| 1 | g.230710507A>T | CA345206896 | AGT | c.317T>A (p.Phe106Tyr) n.828T>A c.344T>A (p.Phe115Tyr) | |
| 1 | g.230710508A>C | CA345206898 | AGT | c.316T>G (p.Phe106Val) n.827T>G c.343T>G (p.Phe115Val) | |
| 1 | g.230710508A>G | CA345206900 | AGT | c.316T>C (p.Phe106Leu) n.827T>C c.343T>C (p.Phe115Leu) | |
| 1 | g.230710508A>T | CA345206902 | AGT | c.316T>A (p.Phe106Ile) n.827T>A c.343T>A (p.Phe115Ile) | |
| 1 | g.230710509G>A | CA424037023 | AGT | c.315C>T (p.Gly105=) n.826C>T c.342C>T (p.Gly114=) | |
| 1 | g.230710509G>C | CA424037021 | AGT | c.315C>G (p.Gly105=) n.826C>G c.342C>G (p.Gly114=) | |
| 1 | g.230710509G>T | CA424037020 | AGT | c.315C>A (p.Gly105=) n.826C>A c.342C>A (p.Gly114=) | |
| 1 | g.230710510C>A | CA345206904 | AGT | c.314G>T (p.Gly105Val) n.825G>T c.341G>T (p.Gly114Val) | |
| 1 | g.230710510C>G | CA345206906 | AGT | c.314G>C (p.Gly105Ala) n.825G>C c.341G>C (p.Gly114Ala) | |
| 1 | g.230710510C>T | CA345206908 | AGT | c.314G>A (p.Gly105Asp) n.825G>A c.341G>A (p.Gly114Asp) | |
| 1 | g.230710511C>A | CA1448325 | AGT | c.313G>T (p.Gly105Cys) n.824G>T c.340G>T (p.Gly114Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710511C= | CA1139922214 | AGT | c.313G= (p.Gly105=) n.824G= c.340G= (p.Gly114=) | |
| 1 | g.230710511C>G | CA345206913 | AGT | c.313G>C (p.Gly105Arg) n.824G>C c.340G>C (p.Gly114Arg) | gnomAD v3 gnomAD v4 |
| 1 | g.230710511C>T | CA345206910 | AGT | c.313G>A (p.Gly105Ser) n.824G>A c.340G>A (p.Gly114Ser) | |
| 1 | g.230710512C>A | CA345206915 | AGT | c.312G>T (p.Leu104Phe) n.823G>T c.339G>T (p.Leu113Phe) | |
| 1 | g.230710512C>G | CA345206914 | AGT | c.312G>C (p.Leu104Phe) n.823G>C c.339G>C (p.Leu113Phe) | |
| 1 | g.230710512C>T | CA424037030 | AGT | c.312G>A (p.Leu104=) n.823G>A c.339G>A (p.Leu113=) | |
| 1 | g.230710513A= | CA1226669765 | AGT | c.311T= (p.Leu104=) n.822T= c.338T= (p.Leu113=) | |
| 1 | g.230710513A>C | CA38871975 | AGT | c.311T>G (p.Leu104Trp) n.822T>G c.338T>G (p.Leu113Trp) | dbSNP |
| 1 | g.230710513A>G | CA345206918 | AGT | c.311T>C (p.Leu104Ser) n.822T>C c.338T>C (p.Leu113Ser) | |
| 1 | g.230710513A>T | CA345206919 | AGT | c.311T>A (p.Leu104Ter) n.822T>A c.338T>A (p.Leu113Ter) | |
| 1 | g.230710514A= | CA1143973334 | AGT | c.310T= (p.Leu104=) n.821T= c.337T= (p.Leu113=) | |
| 1 | g.230710514A>C | CA345206922 | AGT | c.310T>G (p.Leu104Val) n.821T>G c.337T>G (p.Leu113Val) | |
| 1 | g.230710514A>G | CA1448326 | AGT | c.310T>C (p.Leu104=) n.821T>C c.337T>C (p.Leu113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710514A>T | CA345206924 | AGT | c.310T>A (p.Leu104Met) n.821T>A c.337T>A (p.Leu113Met) | |
| 1 | g.230710515G>A | CA424037039 | AGT | c.309C>T (p.Phe103=) n.820C>T c.336C>T (p.Phe112=) | dbSNP |
| 1 | g.230710515G>C | CA345206926 | AGT | c.309C>G (p.Phe103Leu) n.820C>G c.336C>G (p.Phe112Leu) | |
| 1 | g.230710515G= | CA1226669766 | AGT | c.309C= (p.Phe103=) n.820C= c.336C= (p.Phe112=) | |
| 1 | g.230710515G>T | CA345206927 | AGT | c.309C>A (p.Phe103Leu) n.820C>A c.336C>A (p.Phe112Leu) | |
| 1 | g.230710516A>C | CA345206929 | AGT | c.308T>G (p.Phe103Cys) n.819T>G c.335T>G (p.Phe112Cys) | |
| 1 | g.230710516A>G | CA345206931 | AGT | c.308T>C (p.Phe103Ser) n.819T>C c.335T>C (p.Phe112Ser) | |
| 1 | g.230710516A>T | CA345206933 | AGT | c.308T>A (p.Phe103Tyr) n.819T>A c.335T>A (p.Phe112Tyr) | |
| 1 | g.230710517A>C | CA345206936 | AGT | c.307T>G (p.Phe103Val) n.818T>G c.334T>G (p.Phe112Val) | |
| 1 | g.230710517A>G | CA345206938 | AGT | c.307T>C (p.Phe103Leu) n.818T>C c.334T>C (p.Phe112Leu) | |
| 1 | g.230710517A>T | CA345206939 | AGT | c.307T>A (p.Phe103Ile) n.818T>A c.334T>A (p.Phe112Ile) | |
| 1 | g.230710518G>A | CA424037050 | AGT | c.306C>T (p.Asn102=) n.817C>T c.333C>T (p.Asn111=) | gnomAD v4 |
| 1 | g.230710518G>C | CA345206940 | AGT | c.306C>G (p.Asn102Lys) n.817C>G c.333C>G (p.Asn111Lys) | |
| 1 | g.230710518G>T | CA345206941 | AGT | c.306C>A (p.Asn102Lys) n.817C>A c.333C>A (p.Asn111Lys) | |
| 1 | g.230710519T>A | CA345206942 | AGT | c.305A>T (p.Asn102Ile) n.816A>T c.332A>T (p.Asn111Ile) | |
| 1 | g.230710519T>C | CA345206944 | AGT | c.305A>G (p.Asn102Ser) n.816A>G c.332A>G (p.Asn111Ser) | |
| 1 | g.230710519T>G | CA345206946 | AGT | c.305A>C (p.Asn102Thr) n.816A>C c.332A>C (p.Asn111Thr) | |
| 1 | g.230710520T>A | CA345206948 | AGT | c.304A>T (p.Asn102Tyr) n.815A>T c.331A>T (p.Asn111Tyr) | |
| 1 | g.230710520T>C | CA345206949 | AGT | c.304A>G (p.Asn102Asp) n.815A>G c.331A>G (p.Asn111Asp) | |
| 1 | g.230710520T>G | CA345206951 | AGT | c.304A>C (p.Asn102His) n.815A>C c.331A>C (p.Asn111His) | |
| 1 | g.230710521G>A | CA1448327 | AGT | c.303C>T (p.Ala101=) n.814C>T c.330C>T (p.Ala110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710521G>C | CA424037060 | AGT | c.303C>G (p.Ala101=) n.814C>G c.330C>G (p.Ala110=) | |
| 1 | g.230710521G= | CA1139772893 | AGT | c.303C= (p.Ala101=) n.814C= c.330C= (p.Ala110=) | |
| 1 | g.230710521G>T | CA424037061 | AGT | c.303C>A (p.Ala101=) n.814C>A c.330C>A (p.Ala110=) | dbSNP gnomAD v2 |
| 1 | g.230710522G>A | CA38871981 | AGT | c.302C>T (p.Ala101Val) n.813C>T c.329C>T (p.Ala110Val) | dbSNP |
| 1 | g.230710522G>C | CA345206956 | AGT | c.302C>G (p.Ala101Gly) n.813C>G c.329C>G (p.Ala110Gly) | |
| 1 | g.230710522G= | CA1140265667 | AGT | c.302C= (p.Ala101=) n.813C= c.329C= (p.Ala110=) | |
| 1 | g.230710522G>T | CA345206958 | AGT | c.302C>A (p.Ala101Asp) n.813C>A c.329C>A (p.Ala110Asp) | gnomAD v4 |
| 1 | g.230710523C>A | CA345206960 | AGT | c.301G>T (p.Ala101Ser) n.812G>T c.328G>T (p.Ala110Ser) | |
| 1 | g.230710523C>G | CA345206962 | AGT | c.301G>C (p.Ala101Pro) n.812G>C c.328G>C (p.Ala110Pro) | |
| 1 | g.230710523C>T | CA345206964 | AGT | c.301G>A (p.Ala101Thr) n.812G>A c.328G>A (p.Ala110Thr) | |
| 1 | g.230710524C>A | CA424037073 | AGT | c.300G>T (p.Leu100=) n.811G>T c.327G>T (p.Leu109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710524C= | CA1226669767 | AGT | c.300G= (p.Leu100=) n.811G= c.327G= (p.Leu109=) | |
| 1 | g.230710524C>G | CA424037074 | AGT | c.300G>C (p.Leu100=) n.811G>C c.327G>C (p.Leu109=) | |
| 1 | g.230710524C>T | CA10609278 | AGT | c.300G>A (p.Leu100=) n.811G>A c.327G>A (p.Leu109=) | ClinVar dbSNP |
| 1 | g.230710525A>C | CA345206968 | AGT | c.299T>G (p.Leu100Arg) n.810T>G c.326T>G (p.Leu109Arg) | |
| 1 | g.230710525A>G | CA345206965 | AGT | c.299T>C (p.Leu100Pro) n.810T>C c.326T>C (p.Leu109Pro) | |
| 1 | g.230710525A>T | CA345206967 | AGT | c.299T>A (p.Leu100Gln) n.810T>A c.326T>A (p.Leu109Gln) | |
| 1 | g.230710526G>A | CA424037082 | AGT | c.298C>T (p.Leu100=) n.809C>T c.325C>T (p.Leu109=) | |
| 1 | g.230710526G>C | CA345206971 | AGT | c.298C>G (p.Leu100Val) n.809C>G c.325C>G (p.Leu109Val) | |
| 1 | g.230710526G>T | CA345206973 | AGT | c.298C>A (p.Leu100Met) n.809C>A c.325C>A (p.Leu109Met) | |
| 1 | g.230710527C>A | CA345206975 | AGT | c.297G>T (p.Met99Ile) n.808G>T c.324G>T (p.Met108Ile) | |
| 1 | g.230710527C= | CA1226669768 | AGT | c.297G= (p.Met99=) n.808G= c.324G= (p.Met108=) | |
| 1 | g.230710527C>G | CA345206977 | AGT | c.297G>C (p.Met99Ile) n.808G>C c.324G>C (p.Met108Ile) | |
| 1 | g.230710527C>T | CA345206978 | AGT | c.297G>A (p.Met99Ile) n.808G>A c.324G>A (p.Met108Ile) | dbSNP gnomAD v4 |
| 1 | g.230710528A>C | CA345206980 | AGT | c.296T>G (p.Met99Arg) n.807T>G c.323T>G (p.Met108Arg) | |
| 1 | g.230710528A>G | CA345206982 | AGT | c.296T>C (p.Met99Thr) n.807T>C c.323T>C (p.Met108Thr) | COSMIC |
| 1 | g.230710528A>T | CA345206984 | AGT | c.296T>A (p.Met99Lys) n.807T>A c.323T>A (p.Met108Lys) | |
| 1 | g.230710529T>A | CA345206985 | AGT | c.295A>T (p.Met99Leu) n.806A>T c.322A>T (p.Met108Leu) | gnomAD v4 |
| 1 | g.230710529T>C | CA345206987 | AGT | c.295A>G (p.Met99Val) n.806A>G c.322A>G (p.Met108Val) | |
| 1 | g.230710529T>G | CA345206989 | AGT | c.295A>C (p.Met99Leu) n.806A>C c.322A>C (p.Met108Leu) | |
| 1 | g.230710530C>A | CA424036549 | AGT | c.294G>T (p.Gly98=) n.805G>T c.321G>T (p.Gly107=) | |
| 1 | g.230710530C= | CA1226669769 | AGT | c.294G= (p.Gly98=) n.805G= c.321G= (p.Gly107=) | |
| 1 | g.230710530C>G | CA424036551 | AGT | c.294G>C (p.Gly98=) n.805G>C c.321G>C (p.Gly107=) | dbSNP |
| 1 | g.230710530C>T | CA424036554 | AGT | c.294G>A (p.Gly98=) n.805G>A c.321G>A (p.Gly107=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710531C>A | CA345206994 | AGT | c.293G>T (p.Gly98Val) n.804G>T c.320G>T (p.Gly107Val) | |
| 1 | g.230710531C>G | CA345206995 | AGT | c.293G>C (p.Gly98Ala) n.804G>C c.320G>C (p.Gly107Ala) | |
| 1 | g.230710531C>T | CA345206992 | AGT | c.293G>A (p.Gly98Glu) n.804G>A c.320G>A (p.Gly107Glu) | |
| 1 | g.230710532C>A | CA345206997 | AGT | c.292G>T (p.Gly98Trp) n.803G>T c.319G>T (p.Gly107Trp) | gnomAD v4 |
| 1 | g.230710532C= | CA1226669770 | AGT | c.292G= (p.Gly98=) n.803G= c.319G= (p.Gly107=) | |
| 1 | g.230710532C>G | CA345206999 | AGT | c.292G>C (p.Gly98Arg) n.803G>C c.319G>C (p.Gly107Arg) | dbSNP gnomAD v4 |
| 1 | g.230710532C>T | CA1448328 | AGT | c.292G>A (p.Gly98Arg) n.803G>A c.319G>A (p.Gly107Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710533G>A | CA1448329 | AGT | c.291C>T (p.Val97=) n.802C>T c.318C>T (p.Val106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710533G>C | CA424036557 | AGT | c.291C>G (p.Val97=) n.802C>G c.318C>G (p.Val106=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710533G= | CA1226669771 | AGT | c.291C= (p.Val97=) n.802C= c.318C= (p.Val106=) | |
| 1 | g.230710533G>T | CA424036559 | AGT | c.291C>A (p.Val97=) n.802C>A c.318C>A (p.Val106=) | |
| 1 | g.230710534A= | CA1226669772 | AGT | c.290T= (p.Val97=) n.801T= c.317T= (p.Val106=) | |
| 1 | g.230710534A>C | CA345207010 | AGT | c.290T>G (p.Val97Gly) n.801T>G c.317T>G (p.Val106Gly) | |
| 1 | g.230710534A>G | CA1448330 | AGT | c.290T>C (p.Val97Ala) n.801T>C c.317T>C (p.Val106Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710534A>T | CA345207007 | AGT | c.290T>A (p.Val97Asp) n.801T>A c.317T>A (p.Val106Asp) | |
| 1 | g.230710535C>A | CA345207012 | AGT | c.289G>T (p.Val97Phe) n.800G>T c.316G>T (p.Val106Phe) | |
| 1 | g.230710535C>G | CA345207013 | AGT | c.289G>C (p.Val97Leu) n.800G>C c.316G>C (p.Val106Leu) | gnomAD v4 |
| 1 | g.230710535C>T | CA345207014 | AGT | c.289G>A (p.Val97Ile) n.800G>A c.316G>A (p.Val106Ile) | |
| 1 | g.230710536C>A | CA345207016 | AGT | c.288G>T (p.Met96Ile) n.799G>T c.315G>T (p.Met105Ile) | |
| 1 | g.230710536C>G | CA345207018 | AGT | c.288G>C (p.Met96Ile) n.799G>C c.315G>C (p.Met105Ile) | |
| 1 | g.230710536C>T | CA345207019 | AGT | c.288G>A (p.Met96Ile) n.799G>A c.315G>A (p.Met105Ile) | |
| 1 | g.230710537A= | CA1226669773 | AGT | c.287T= (p.Met96=) n.798T= c.314T= (p.Met105=) | |
| 1 | g.230710537A>C | CA345207021 | AGT | c.287T>G (p.Met96Arg) n.798T>G c.314T>G (p.Met105Arg) | |
| 1 | g.230710537A>G | CA38872004 | AGT | c.287T>C (p.Met96Thr) n.798T>C c.314T>C (p.Met105Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710537A>T | CA345207023 | AGT | c.287T>A (p.Met96Lys) n.798T>A c.314T>A (p.Met105Lys) | |
| 1 | g.230710538T>A | CA345207025 | AGT | c.286A>T (p.Met96Leu) n.797A>T c.313A>T (p.Met105Leu) | |
| 1 | g.230710538T>C | CA1448331 | AGT | c.286A>G (p.Met96Val) n.797A>G c.313A>G (p.Met105Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710538T>G | CA345207028 | AGT | c.286A>C (p.Met96Leu) n.797A>C c.313A>C (p.Met105Leu) | |
| 1 | g.230710538T= | CA1226669774 | AGT | c.286A= (p.Met96=) n.797A= c.313A= (p.Met105=) | |
| 1 | g.230710538_230710539insGCT | CA645521369 | AGT | c.286_287insGCA (p.Ala95_Met96insSer) n.797_798insGCA c.313_314insGCA (p.Ala104_Met105insSer) | COSMIC |
| 1 | g.230710539T>A | CA424036564 | AGT | c.285A>T (p.Ala95=) n.796A>T c.312A>T (p.Ala104=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710539T>C | CA38872012 | AGT | c.285A>G (p.Ala95=) n.796A>G c.312A>G (p.Ala104=) | dbSNP |
| 1 | g.230710539T>G | CA424036565 | AGT | c.285A>C (p.Ala95=) n.796A>C c.312A>C (p.Ala104=) | |
| 1 | g.230710539T= | CA1226669775 | AGT | c.285A= (p.Ala95=) n.796A= c.312A= (p.Ala104=) | |
| 1 | g.230710540G>A | CA345207034 | AGT | c.284C>T (p.Ala95Val) n.795C>T c.311C>T (p.Ala104Val) | gnomAD v4 |
| 1 | g.230710540G>C | CA345207037 | AGT | c.284C>G (p.Ala95Gly) n.795C>G c.311C>G (p.Ala104Gly) | |
| 1 | g.230710540G>T | CA345207038 | AGT | c.284C>A (p.Ala95Glu) n.795C>A c.311C>A (p.Ala104Glu) | gnomAD v4 |
| 1 | g.230710540_230710541delinsGC | CA1226669776 | AGT | c.283_284delinsGC (p.Ala95=) n.794_795delinsGC c.310_311delinsGC (p.Ala104=) | |
| 1 | g.230710541del | CA38872014 | AGT | c.283del (p.Ala95GlnfsTer?) n.794del c.310del (p.Ala104GlnfsTer?) | dbSNP |
| 1 | g.230710541C>A | CA345207042 | AGT | c.283G>T (p.Ala95Ser) n.794G>T c.310G>T (p.Ala104Ser) | gnomAD v4 |
| 1 | g.230710541C= | CA1141685583 | AGT | c.283G= (p.Ala95=) n.794G= c.310G= (p.Ala104=) | |
| 1 | g.230710541C>G | CA345207045 | AGT | c.283G>C (p.Ala95Pro) n.794G>C c.310G>C (p.Ala104Pro) | gnomAD v4 |
| 1 | g.230710541C>T | CA1448332 | AGT | c.283G>A (p.Ala95Thr) n.794G>A c.310G>A (p.Ala104Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710542G>A | CA1448333 | AGT | c.282C>T (p.Ala94=) n.793C>T c.309C>T (p.Ala103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710542G>C | CA424036569 | AGT | c.282C>G (p.Ala94=) n.793C>G c.309C>G (p.Ala103=) | |
| 1 | g.230710542G= | CA1226669777 | AGT | c.282C= (p.Ala94=) n.793C= c.309C= (p.Ala103=) | |
| 1 | g.230710542G>T | CA1448334 | AGT | c.282C>A (p.Ala94=) n.793C>A c.309C>A (p.Ala103=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710543G>A | CA1448335 | AGT | c.281C>T (p.Ala94Val) n.792C>T c.308C>T (p.Ala103Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710543G>C | CA345207055 | AGT | c.281C>G (p.Ala94Gly) n.792C>G c.308C>G (p.Ala103Gly) | |
| 1 | g.230710543G= | CA1226669778 | AGT | c.281C= (p.Ala94=) n.792C= c.308C= (p.Ala103=) | |
| 1 | g.230710543G>T | CA345207058 | AGT | c.281C>A (p.Ala94Asp) n.792C>A c.308C>A (p.Ala103Asp) | dbSNP |
| 1 | g.230710544C>A | CA345207061 | AGT | c.280G>T (p.Ala94Ser) n.791G>T c.307G>T (p.Ala103Ser) | gnomAD v4 |
| 1 | g.230710544C>G | CA345207064 | AGT | c.280G>C (p.Ala94Pro) n.791G>C c.307G>C (p.Ala103Pro) | |
| 1 | g.230710544C>T | CA345207063 | AGT | c.280G>A (p.Ala94Thr) n.791G>A c.307G>A (p.Ala103Thr) | |
| 1 | g.230710545C>A | CA345207067 | AGT | c.279G>T (p.Arg93Ser) n.790G>T c.306G>T (p.Arg102Ser) | |
| 1 | g.230710545C= | CA1226669779 | AGT | c.279G= (p.Arg93=) n.790G= c.306G= (p.Arg102=) | |
| 1 | g.230710545C>G | CA345207070 | AGT | c.279G>C (p.Arg93Ser) n.790G>C c.306G>C (p.Arg102Ser) | |
| 1 | g.230710545C>T | CA1448336 | AGT | c.279G>A (p.Arg93=) n.790G>A c.306G>A (p.Arg102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710546C>A | CA345207075 | AGT | c.278G>T (p.Arg93Met) n.789G>T c.305G>T (p.Arg102Met) | |
| 1 | g.230710546C= | CA1143404008 | AGT | c.278G= (p.Arg93=) n.789G= c.305G= (p.Arg102=) | |
| 1 | g.230710546C>G | CA345207078 | AGT | c.278G>C (p.Arg93Thr) n.789G>C c.305G>C (p.Arg102Thr) | |
| 1 | g.230710546C>T | CA1448337 | AGT | c.278G>A (p.Arg93Lys) n.789G>A c.305G>A (p.Arg102Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710547T>A | CA345207079 | AGT | c.277A>T (p.Arg93Trp) n.788A>T c.304A>T (p.Arg102Trp) | |
| 1 | g.230710547T>C | CA345207081 | AGT | c.277A>G (p.Arg93Gly) n.788A>G c.304A>G (p.Arg102Gly) | |
| 1 | g.230710547T>G | CA424036574 | AGT | c.277A>C (p.Arg93=) n.788A>C c.304A>C (p.Arg102=) | |
| 1 | g.230710548C>A | CA345207085 | AGT | c.276G>T (p.Leu92Phe) n.787G>T c.303G>T (p.Leu101Phe) | |
| 1 | g.230710548C>G | CA345207087 | AGT | c.276G>C (p.Leu92Phe) n.787G>C c.303G>C (p.Leu101Phe) | |
| 1 | g.230710548C>T | CA424036575 | AGT | c.276G>A (p.Leu92=) n.787G>A c.303G>A (p.Leu101=) | |
| 1 | g.230710549A>C | CA345207093 | AGT | c.275T>G (p.Leu92Trp) n.786T>G c.302T>G (p.Leu101Trp) | gnomAD v4 |
| 1 | g.230710549A>G | CA345207091 | AGT | c.275T>C (p.Leu92Ser) n.786T>C c.302T>C (p.Leu101Ser) | |
| 1 | g.230710549A>T | CA345207089 | AGT | c.275T>A (p.Leu92Ter) n.786T>A c.302T>A (p.Leu101Ter) | |
| 1 | g.230710550A= | CA1148284293 | AGT | c.274T= (p.Leu92=) n.785T= c.301T= (p.Leu101=) | |
| 1 | g.230710550A>C | CA345207097 | AGT | c.274T>G (p.Leu92Val) n.785T>G c.301T>G (p.Leu101Val) | |
| 1 | g.230710550A>G | CA1448338 | AGT | c.274T>C (p.Leu92=) n.785T>C c.301T>C (p.Leu101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710550A>T | CA345207100 | AGT | c.274T>A (p.Leu92Met) n.785T>A c.301T>A (p.Leu101Met) | |
| 1 | g.230710551C>A | CA345207101 | AGT | c.273G>T (p.Lys91Asn) n.784G>T c.300G>T (p.Lys100Asn) | |
| 1 | g.230710551C= | CA1226669780 | AGT | c.273G= (p.Lys91=) n.784G= c.300G= (p.Lys100=) | |
| 1 | g.230710551C>G | CA345207102 | AGT | c.273G>C (p.Lys91Asn) n.784G>C c.300G>C (p.Lys100Asn) | |
| 1 | g.230710551C>T | CA424036579 | AGT | c.273G>A (p.Lys91=) n.784G>A c.300G>A (p.Lys100=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710552T>A | CA345207103 | AGT | c.272A>T (p.Lys91Met) n.783A>T c.299A>T (p.Lys100Met) | |
| 1 | g.230710552T>C | CA345207105 | AGT | c.272A>G (p.Lys91Arg) n.783A>G c.299A>G (p.Lys100Arg) | |
| 1 | g.230710552T>G | CA345207106 | AGT | c.272A>C (p.Lys91Thr) n.783A>C c.299A>C (p.Lys100Thr) | |
| 1 | g.230710553T>A | CA345207108 | AGT | c.271A>T (p.Lys91Ter) n.782A>T c.298A>T (p.Lys100Ter) | |
| 1 | g.230710553T>C | CA38872041 | AGT | c.271A>G (p.Lys91Glu) n.782A>G c.298A>G (p.Lys100Glu) | dbSNP |
| 1 | g.230710553T>G | CA345207111 | AGT | c.271A>C (p.Lys91Gln) n.782A>C c.298A>C (p.Lys100Gln) | |
| 1 | g.230710553T= | CA1140265668 | AGT | c.271A= (p.Lys91=) n.782A= c.298A= (p.Lys100=) | |
| 1 | g.230710554G>A | CA424036584 | AGT | c.270C>T (p.Asp90=) n.781C>T c.297C>T (p.Asp99=) | |
| 1 | g.230710554G>C | CA345207133 | AGT | c.270C>G (p.Asp90Glu) n.781C>G c.297C>G (p.Asp99Glu) | |
| 1 | g.230710554G= | CA1226669781 | AGT | c.270C= (p.Asp90=) n.781C= c.297C= (p.Asp99=) | |
| 1 | g.230710554G>T | CA345207136 | AGT | c.270C>A (p.Asp90Glu) n.781C>A c.297C>A (p.Asp99Glu) | |
| 1 | g.230710555T>A | CA345207143 | AGT | c.269A>T (p.Asp90Val) n.780A>T c.296A>T (p.Asp99Val) | |
| 1 | g.230710555T>C | CA345207139 | AGT | c.269A>G (p.Asp90Gly) n.780A>G c.296A>G (p.Asp99Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710555T>G | CA345207140 | AGT | c.269A>C (p.Asp90Ala) n.780A>C c.296A>C (p.Asp99Ala) | |
| 1 | g.230710555T= | CA1226669782 | AGT | c.269A= (p.Asp90=) n.780A= c.296A= (p.Asp99=) | |
| 1 | g.230710557_230710559dup | CA732704142 | AGT | c.267_269dup (p.Glu89_Asp90insGlu) n.778_780dup c.294_296dup (p.Glu98_Asp99insGlu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710556C>A | CA345207145 | AGT | c.268G>T (p.Asp90Tyr) n.779G>T c.295G>T (p.Asp99Tyr) | |
| 1 | g.230710556C>G | CA345207147 | AGT | c.268G>C (p.Asp90His) n.779G>C c.295G>C (p.Asp99His) | |
| 1 | g.230710556C>T | CA345207149 | AGT | c.268G>A (p.Asp90Asn) n.779G>A c.295G>A (p.Asp99Asn) | gnomAD v4 |
| 1 | g.230710557T>A | CA345207152 | AGT | c.267A>T (p.Glu89Asp) n.778A>T c.294A>T (p.Glu98Asp) | |
| 1 | g.230710557T>C | CA38872047 | AGT | c.267A>G (p.Glu89=) n.778A>G c.294A>G (p.Glu98=) | dbSNP |
| 1 | g.230710557T>G | CA345207155 | AGT | c.267A>C (p.Glu89Asp) n.778A>C c.294A>C (p.Glu98Asp) | gnomAD v4 |
| 1 | g.230710557T= | CA1148297487 | AGT | c.267A= (p.Glu89=) n.778A= c.294A= (p.Glu98=) | |
| 1 | g.230710558T>A | CA345207159 | AGT | c.266A>T (p.Glu89Val) n.777A>T c.293A>T (p.Glu98Val) | |
| 1 | g.230710558T>C | CA345207160 | AGT | c.266A>G (p.Glu89Gly) n.777A>G c.293A>G (p.Glu98Gly) | |
| 1 | g.230710558T>G | CA345207162 | AGT | c.266A>C (p.Glu89Ala) n.777A>C c.293A>C (p.Glu98Ala) | |
| 1 | g.230710559C>A | CA345207164 | AGT | c.265G>T (p.Glu89Ter) n.776G>T c.292G>T (p.Glu98Ter) | |
| 1 | g.230710559C= | CA1140265669 | AGT | c.265G= (p.Glu89=) n.776G= c.292G= (p.Glu98=) | |
| 1 | g.230710559C>G | CA345207166 | AGT | c.265G>C (p.Glu89Gln) n.776G>C c.292G>C (p.Glu98Gln) | |
| 1 | g.230710559C>T | CA1448339 | AGT | c.265G>A (p.Glu89Lys) n.776G>A c.292G>A (p.Glu98Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710560G>A | CA1448340 | AGT | c.264C>T (p.Thr88=) n.775C>T c.291C>T (p.Thr97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710560G>C | CA424036589 | AGT | c.264C>G (p.Thr88=) n.775C>G c.291C>G (p.Thr97=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710560G= | CA1140265670 | AGT | c.264C= (p.Thr88=) n.775C= c.291C= (p.Thr97=) | |
| 1 | g.230710560G>T | CA38872059 | AGT | c.264C>A (p.Thr88=) n.775C>A c.291C>A (p.Thr97=) | dbSNP |
| 1 | g.230710561G>A | CA345207170 | AGT | c.263C>T (p.Thr88Ile) n.774C>T c.290C>T (p.Thr97Ile) | gnomAD v4 |
| 1 | g.230710561G>C | CA345207175 | AGT | c.263C>G (p.Thr88Ser) n.774C>G c.290C>G (p.Thr97Ser) | |
| 1 | g.230710561G= | CA1226658493 | AGT | c.263C= (p.Thr88=) n.774C= c.290C= (p.Thr97=) | |
| 1 | g.230710561G>T | CA345207172 | AGT | c.263C>A (p.Thr88Asn) n.774C>A c.290C>A (p.Thr97Asn) | dbSNP gnomAD v4 |
| 1 | g.230710562T>A | CA345207178 | AGT | c.262A>T (p.Thr88Ser) n.773A>T c.289A>T (p.Thr97Ser) | |
| 1 | g.230710562T>C | CA1448341 | AGT | c.262A>G (p.Thr88Ala) n.773A>G c.289A>G (p.Thr97Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710562T>G | CA345207179 | AGT | c.262A>C (p.Thr88Pro) n.773A>C c.289A>C (p.Thr97Pro) | dbSNP gnomAD v4 |
| 1 | g.230710562T= | CA1148469112 | AGT | c.262A= (p.Thr88=) n.773A= c.289A= (p.Thr97=) |