Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151828881dup | CA3523538 | GLRA1 | c.1059+40dup (n.1059+40dup) c.*817+40dup (n.*817+40dup) c.810+40dup (n.810+40dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828882A>G | CA2676108551 | GLRA1 | c.1059+39T>C (n.1059+39T>C) c.*817+39T>C (n.*817+39T>C) c.810+39T>C (n.810+39T>C) | gnomAD v4 |
5 | g.151828883A= | CA1591567944 | GLRA1 | c.1059+38T= (n.1059+38T=) c.*817+38T= (n.*817+38T=) c.810+38T= (n.810+38T=) | |
5 | g.151828883A>C | CA2710043709 | GLRA1 | c.1059+38T>G (n.1059+38T>G) c.*817+38T>G (n.*817+38T>G) c.810+38T>G (n.810+38T>G) | dbSNP |
5 | g.151828883A>G | CA3523539 | GLRA1 | c.1059+38T>C (n.1059+38T>C) c.*817+38T>C (n.*817+38T>C) c.810+38T>C (n.810+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828883A>T | CA2578460383 | GLRA1 | c.1059+38T>A (n.1059+38T>A) c.*817+38T>A (n.*817+38T>A) c.810+38T>A (n.810+38T>A) | |
5 | g.151828884C= | CA1591567945 | GLRA1 | c.1059+37G= (n.1059+37G=) c.*817+37G= (n.*817+37G=) c.810+37G= (n.810+37G=) | |
5 | g.151828884C>T | CA3523540 | GLRA1 | c.1059+37G>A (n.1059+37G>A) c.*817+37G>A (n.*817+37G>A) c.810+37G>A (n.810+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828885A>T | CA2710198182 | GLRA1 | c.1059+36T>A (n.1059+36T>A) c.*817+36T>A (n.*817+36T>A) c.810+36T>A (n.810+36T>A) | dbSNP |
5 | g.151828886G>T | CA2676108557 | GLRA1 | c.1059+35C>A (n.1059+35C>A) c.*817+35C>A (n.*817+35C>A) c.810+35C>A (n.810+35C>A) | gnomAD v4 |
5 | g.151828891C>A | CA2676108559 | GLRA1 | c.1059+30G>T (n.1059+30G>T) c.*817+30G>T (n.*817+30G>T) c.810+30G>T (n.810+30G>T) | gnomAD v4 |
5 | g.151828891C>T | CA2676108561 | GLRA1 | c.1059+30G>A (n.1059+30G>A) c.*817+30G>A (n.*817+30G>A) c.810+30G>A (n.810+30G>A) | gnomAD v4 |
5 | g.151828892C>A | CA2768928917 | GLRA1 | c.1059+29G>T (n.1059+29G>T) c.*817+29G>T (n.*817+29G>T) c.810+29G>T (n.810+29G>T) | |
5 | g.151828892C= | CA1591567946 | GLRA1 | c.1059+29G= (n.1059+29G=) c.*817+29G= (n.*817+29G=) c.810+29G= (n.810+29G=) | |
5 | g.151828892C>T | CA1591567947 | GLRA1 | c.1059+29G>A (n.1059+29G>A) c.*817+29G>A (n.*817+29G>A) c.810+29G>A (n.810+29G>A) | dbSNP gnomAD v4 |
5 | g.151828893C= | CA1591567948 | GLRA1 | c.1059+28G= (n.1059+28G=) c.*817+28G= (n.*817+28G=) c.810+28G= (n.810+28G=) | |
5 | g.151828893C>G | CA563633466 | GLRA1 | c.1059+28G>C (n.1059+28G>C) c.*817+28G>C (n.*817+28G>C) c.810+28G>C (n.810+28G>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828893C>T | CA2676108565 | GLRA1 | c.1059+28G>A (n.1059+28G>A) c.*817+28G>A (n.*817+28G>A) c.810+28G>A (n.810+28G>A) | gnomAD v4 |
5 | g.151828894T>G | CA3523541 | GLRA1 | c.1059+27A>C (n.1059+27A>C) c.*817+27A>C (n.*817+27A>C) c.810+27A>C (n.810+27A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828894T= | CA1591567949 | GLRA1 | c.1059+27A= (n.1059+27A=) c.*817+27A= (n.*817+27A=) c.810+27A= (n.810+27A=) | |
5 | g.151828895C>T | CA2676108570 | GLRA1 | c.1059+26G>A (n.1059+26G>A) c.*817+26G>A (n.*817+26G>A) c.810+26G>A (n.810+26G>A) | gnomAD v4 |
5 | g.151828897T>A | CA2676108575 | GLRA1 | c.1059+24A>T (n.1059+24A>T) c.*817+24A>T (n.*817+24A>T) c.810+24A>T (n.810+24A>T) | gnomAD v4 |
5 | g.151828898T>C | CA2676108577 | GLRA1 | c.1059+23A>G (n.1059+23A>G) c.*817+23A>G (n.*817+23A>G) c.810+23A>G (n.810+23A>G) | gnomAD v4 |
5 | g.151828900G>A | CA2676108578 | GLRA1 | c.1059+21C>T (n.1059+21C>T) c.*817+21C>T (n.*817+21C>T) c.810+21C>T (n.810+21C>T) | gnomAD v4 |
5 | g.151828900G>T | CA2578460384 | GLRA1 | c.1059+21C>A (n.1059+21C>A) c.*817+21C>A (n.*817+21C>A) c.810+21C>A (n.810+21C>A) | |
5 | g.151828901G>T | CA2676108579 | GLRA1 | c.1059+20C>A (n.1059+20C>A) c.*817+20C>A (n.*817+20C>A) c.810+20C>A (n.810+20C>A) | gnomAD v4 |
5 | g.151828902C= | CA1591567950 | GLRA1 | c.1059+19G= (n.1059+19G=) c.*817+19G= (n.*817+19G=) c.810+19G= (n.810+19G=) | |
5 | g.151828902C>T | CA563633467 | GLRA1 | c.1059+19G>A (n.1059+19G>A) c.*817+19G>A (n.*817+19G>A) c.810+19G>A (n.810+19G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828903A= | CA1591567951 | GLRA1 | c.1059+18T= (n.1059+18T=) c.*817+18T= (n.*817+18T=) c.810+18T= (n.810+18T=) | |
5 | g.151828903A>C | CA3523542 | GLRA1 | c.1059+18T>G (n.1059+18T>G) c.*817+18T>G (n.*817+18T>G) c.810+18T>G (n.810+18T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828903A>G | CA563633469 | GLRA1 | c.1059+18T>C (n.1059+18T>C) c.*817+18T>C (n.*817+18T>C) c.810+18T>C (n.810+18T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828904_151828907dup | CA1591567952 | GLRA1 | c.1059+15_1059+18dup (n.1059+15_1059+18dup) c.*817+15_*817+18dup (n.*817+15_*817+18dup) c.810+15_810+18dup (n.810+15_810+18dup) | ClinVar dbSNP gnomAD v4 |
5 | g.151828907A= | CA1591567953 | GLRA1 | c.1059+14T= (n.1059+14T=) c.*817+14T= (n.*817+14T=) c.810+14T= (n.810+14T=) | |
5 | g.151828907A>G | CA563633470 | GLRA1 | c.1059+14T>C (n.1059+14T>C) c.*817+14T>C (n.*817+14T>C) c.810+14T>C (n.810+14T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828908C>A | CA2676108610 | GLRA1 | c.1059+13G>T (n.1059+13G>T) c.*817+13G>T (n.*817+13G>T) c.810+13G>T (n.810+13G>T) | gnomAD v4 |
5 | g.151828909C>A | CA2676108613 | GLRA1 | c.1059+12G>T (n.1059+12G>T) c.*817+12G>T (n.*817+12G>T) c.810+12G>T (n.810+12G>T) | gnomAD v4 |
5 | g.151828909C= | CA1591567954 | GLRA1 | c.1059+12G= (n.1059+12G=) c.*817+12G= (n.*817+12G=) c.810+12G= (n.810+12G=) | |
5 | g.151828909C>T | CA3523543 | GLRA1 | c.1059+12G>A (n.1059+12G>A) c.*817+12G>A (n.*817+12G>A) c.810+12G>A (n.810+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828911A>G | CA2578460385 | GLRA1 | c.1059+10T>C (n.1059+10T>C) c.*817+10T>C (n.*817+10T>C) c.810+10T>C (n.810+10T>C) | gnomAD v4 |
5 | g.151828912A= | CA1591567955 | GLRA1 | c.1059+9T= (n.1059+9T=) c.*817+9T= (n.*817+9T=) c.810+9T= (n.810+9T=) | |
5 | g.151828912A>G | CA1591567956 | GLRA1 | c.1059+9T>C (n.1059+9T>C) c.*817+9T>C (n.*817+9T>C) c.810+9T>C (n.810+9T>C) | dbSNP gnomAD v4 |
5 | g.151828913A>C | CA915224244 | GLRA1 | c.1059+8T>G (n.1059+8T>G) c.*817+8T>G (n.*817+8T>G) c.810+8T>G (n.810+8T>G) | gnomAD v2 gnomAD v4 |
5 | g.151828914G>T | CA2580073919 | GLRA1 | c.1059+7C>A (n.1059+7C>A) c.*817+7C>A (n.*817+7C>A) c.810+7C>A (n.810+7C>A) | ClinVar |
5 | g.151828915G>A | CA3523544 | GLRA1 | c.1059+6C>T (n.1059+6C>T) c.*817+6C>T (n.*817+6C>T) c.810+6C>T (n.810+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828915G>C | CA1591567958 | GLRA1 | c.1059+6C>G (n.1059+6C>G) c.*817+6C>G (n.*817+6C>G) c.810+6C>G (n.810+6C>G) | dbSNP |
5 | g.151828915G= | CA1591567957 | GLRA1 | c.1059+6C= (n.1059+6C=) c.*817+6C= (n.*817+6C=) c.810+6C= (n.810+6C=) | |
5 | g.151828916C>A | CA1591567960 | GLRA1 | c.1059+5G>T (n.1059+5G>T) c.*817+5G>T (n.*817+5G>T) c.810+5G>T (n.810+5G>T) | dbSNP |
5 | g.151828916C= | CA1591567959 | GLRA1 | c.1059+5G= (n.1059+5G=) c.*817+5G= (n.*817+5G=) c.810+5G= (n.810+5G=) | |
5 | g.151828919A= | CA1591567961 | GLRA1 | c.1059+2T= (n.1059+2T=) c.*817+2T= (n.*817+2T=) c.810+2T= (n.810+2T=) | |
5 | g.151828919A>C | CA361851186 | GLRA1 | c.1059+2T>G (n.1059+2T>G) c.*817+2T>G (n.*817+2T>G) c.810+2T>G (n.810+2T>G) | |
5 | g.151828919A>G | CA130010001 | GLRA1 | c.1059+2T>C (n.1059+2T>C) c.*817+2T>C (n.*817+2T>C) c.810+2T>C (n.810+2T>C) | dbSNP |
5 | g.151828919A>T | CA361851190 | GLRA1 | c.1059+2T>A (n.1059+2T>A) c.*817+2T>A (n.*817+2T>A) c.810+2T>A (n.810+2T>A) | |
5 | g.151828920C>A | CA361851193 | GLRA1 | c.1059+1G>T (n.1059+1G>T) c.*817+1G>T (n.*817+1G>T) c.810+1G>T (n.810+1G>T) | |
5 | g.151828920C>G | CA361851194 | GLRA1 | c.1059+1G>C (n.1059+1G>C) c.*817+1G>C (n.*817+1G>C) c.810+1G>C (n.810+1G>C) | |
5 | g.151828920C>T | CA361851195 | GLRA1 | c.1059+1G>A (n.1059+1G>A) c.*817+1G>A (n.*817+1G>A) c.810+1G>A (n.810+1G>A) | ClinVar gnomAD v4 |
5 | g.151828921C>A | CA361851196 | GLRA1 | c.1059G>T (p.Lys353Asn) c.*817G>T (n.*817G>T) c.810G>T (p.Lys270Asn) | |
5 | g.151828921C>G | CA361851198 | GLRA1 | c.1059G>C (p.Lys353Asn) c.*817G>C (n.*817G>C) c.810G>C (p.Lys270Asn) | |
5 | g.151828921C>T | CA447226719 | GLRA1 | c.1059G>A (p.Lys353=) c.*817G>A (n.*817G>A) c.810G>A (p.Lys270=) | |
5 | g.151828922T>A | CA361851200 | GLRA1 | c.1058A>T (p.Lys353Met) c.*816A>T (n.*816A>T) c.809A>T (p.Lys270Met) | |
5 | g.151828922T>C | CA3523545 | GLRA1 | c.1058A>G (p.Lys353Arg) c.*816A>G (n.*816A>G) c.809A>G (p.Lys270Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828922T>G | CA361851204 | GLRA1 | c.1058A>C (p.Lys353Thr) c.*816A>C (n.*816A>C) c.809A>C (p.Lys270Thr) | |
5 | g.151828922T= | CA1591567962 | GLRA1 | c.1058A= (p.Lys353=) c.*816A= (n.*816A=) c.809A= (p.Lys270=) | |
5 | g.151828923T>A | CA361851207 | GLRA1 | c.1057A>T (p.Lys353Ter) c.*815A>T (n.*815A>T) c.808A>T (p.Lys270Ter) | |
5 | g.151828923T>C | CA361851208 | GLRA1 | c.1057A>G (p.Lys353Glu) c.*815A>G (n.*815A>G) c.808A>G (p.Lys270Glu) | dbSNP gnomAD v4 |
5 | g.151828923T>G | CA3523546 | GLRA1 | c.1057A>C (p.Lys353Gln) c.*815A>C (n.*815A>C) c.808A>C (p.Lys270Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828923T= | CA1591567963 | GLRA1 | c.1057A= (p.Lys353=) c.*815A= (n.*815A=) c.808A= (p.Lys270=) | |
5 | g.151828924G>A | CA447226720 | GLRA1 | c.1056C>T (p.His352=) c.*814C>T (n.*814C>T) c.807C>T (p.His269=) | gnomAD v4 |
5 | g.151828924G>C | CA361851213 | GLRA1 | c.1056C>G (p.His352Gln) c.*814C>G (n.*814C>G) c.807C>G (p.His269Gln) | |
5 | g.151828924G>T | CA361851215 | GLRA1 | c.1056C>A (p.His352Gln) c.*814C>A (n.*814C>A) c.807C>A (p.His269Gln) | |
5 | g.151828924_151828926del | CA2676108649 | GLRA1 | c.1054_1056del (p.His352del) c.*812_*814del (n.*812_*814del) c.805_807del (p.His269del) | gnomAD v4 |
5 | g.151828925T>A | CA361851219 | GLRA1 | c.1055A>T (p.His352Leu) c.*813A>T (n.*813A>T) c.806A>T (p.His269Leu) | |
5 | g.151828925T>C | CA361851222 | GLRA1 | c.1055A>G (p.His352Arg) c.*813A>G (n.*813A>G) c.806A>G (p.His269Arg) | |
5 | g.151828925T>G | CA361851220 | GLRA1 | c.1055A>C (p.His352Pro) c.*813A>C (n.*813A>C) c.806A>C (p.His269Pro) | |
5 | g.151828926G>A | CA361851225 | GLRA1 | c.1054C>T (p.His352Tyr) c.*812C>T (n.*812C>T) c.805C>T (p.His269Tyr) | |
5 | g.151828926G>C | CA361851226 | GLRA1 | c.1054C>G (p.His352Asp) c.*812C>G (n.*812C>G) c.805C>G (p.His269Asp) | ClinVar |
5 | g.151828926G= | CA1591567964 | GLRA1 | c.1054C= (p.His352=) c.*812C= (n.*812C=) c.805C= (p.His269=) | |
5 | g.151828926G>T | CA361851228 | GLRA1 | c.1054C>A (p.His352Asn) c.*812C>A (n.*812C>A) c.805C>A (p.His269Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151828927A>C | CA361851231 | GLRA1 | c.1053T>G (p.His351Gln) c.*811T>G (n.*811T>G) c.804T>G (p.His268Gln) | |
5 | g.151828927A>G | CA447226721 | GLRA1 | c.1053T>C (p.His351=) c.*811T>C (n.*811T>C) c.804T>C (p.His268=) | gnomAD v4 |
5 | g.151828927A>T | CA361851232 | GLRA1 | c.1053T>A (p.His351Gln) c.*811T>A (n.*811T>A) c.804T>A (p.His268Gln) | |
5 | g.151828928T>A | CA130010019 | GLRA1 | c.1052A>T (p.His351Leu) c.*810A>T (n.*810A>T) c.803A>T (p.His268Leu) | dbSNP |
5 | g.151828928T>C | CA361851237 | GLRA1 | c.1052A>G (p.His351Arg) c.*810A>G (n.*810A>G) c.803A>G (p.His268Arg) | gnomAD v4 |
5 | g.151828928T>G | CA361851240 | GLRA1 | c.1052A>C (p.His351Pro) c.*810A>C (n.*810A>C) c.803A>C (p.His268Pro) | |
5 | g.151828928T= | CA1591567965 | GLRA1 | c.1052A= (p.His351=) c.*810A= (n.*810A=) c.803A= (p.His268=) | |
5 | g.151828929G>A | CA361851243 | GLRA1 | c.1051C>T (p.His351Tyr) c.*809C>T (n.*809C>T) c.802C>T (p.His268Tyr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828929G>C | CA361851244 | GLRA1 | c.1051C>G (p.His351Asp) c.*809C>G (n.*809C>G) c.802C>G (p.His268Asp) | |
5 | g.151828929G= | CA1591567966 | GLRA1 | c.1051C= (p.His351=) c.*809C= (n.*809C=) c.802C= (p.His268=) | |
5 | g.151828929G>T | CA361851245 | GLRA1 | c.1051C>A (p.His351Asn) c.*809C>A (n.*809C>A) c.802C>A (p.His268Asn) | |
5 | g.151828930T>A | CA361851246 | GLRA1 | c.1050A>T (p.Arg350Ser) c.*808A>T (n.*808A>T) c.801A>T (p.Arg267Ser) | |
5 | g.151828930T>C | CA447226722 | GLRA1 | c.1050A>G (p.Arg350=) c.*808A>G (n.*808A>G) c.801A>G (p.Arg267=) | |
5 | g.151828930T>G | CA361851248 | GLRA1 | c.1050A>C (p.Arg350Ser) c.*808A>C (n.*808A>C) c.801A>C (p.Arg267Ser) | |
5 | g.151828932_151828933del | CA2695202758 | GLRA1 | c.1049_1050del (p.Arg350ThrfsTer6) c.1049_1050del (p.Arg350ThrfsTer14) c.*807_*808del (n.*807_*808del) c.800_801del (p.Arg267ThrfsTer6) | |
5 | g.151828931C>A | CA361851251 | GLRA1 | c.1049G>T (p.Arg350Ile) c.*807G>T (n.*807G>T) c.800G>T (p.Arg267Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828931C= | CA1591567967 | GLRA1 | c.1049G= (p.Arg350=) c.*807G= (n.*807G=) c.800G= (p.Arg267=) | |
5 | g.151828931C>G | CA361851256 | GLRA1 | c.1049G>C (p.Arg350Thr) c.*807G>C (n.*807G>C) c.800G>C (p.Arg267Thr) | gnomAD v4 |
5 | g.151828931C>T | CA361851254 | GLRA1 | c.1049G>A (p.Arg350Lys) c.*807G>A (n.*807G>A) c.800G>A (p.Arg267Lys) | gnomAD v4 |
5 | g.151828932T>A | CA361851257 | GLRA1 | c.1048A>T (p.Arg350Ter) c.*806A>T (n.*806A>T) c.799A>T (p.Arg267Ter) | |
5 | g.151828932T>C | CA361851258 | GLRA1 | c.1048A>G (p.Arg350Gly) c.*806A>G (n.*806A>G) c.799A>G (p.Arg267Gly) | gnomAD v4 |
5 | g.151828932T>G | CA447226723 | GLRA1 | c.1048A>C (p.Arg350=) c.*806A>C (n.*806A>C) c.799A>C (p.Arg267=) | |
5 | g.151828933C>A | CA447226724 | GLRA1 | c.1047G>T (p.Arg349=) c.*805G>T (n.*805G>T) c.798G>T (p.Arg266=) | dbSNP |
5 | g.151828933C= | CA1591567968 | GLRA1 | c.1047G= (p.Arg349=) c.*805G= (n.*805G=) c.798G= (p.Arg266=) | |
5 | g.151828933C>G | CA447226725 | GLRA1 | c.1047G>C (p.Arg349=) c.*805G>C (n.*805G>C) c.798G>C (p.Arg266=) | |
5 | g.151828933C>T | CA3523547 | GLRA1 | c.1047G>A (p.Arg349=) c.*805G>A (n.*805G>A) c.798G>A (p.Arg266=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828934C>A | CA361851261 | GLRA1 | c.1046G>T (p.Arg349Leu) c.*804G>T (n.*804G>T) c.797G>T (p.Arg266Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.151828934C= | CA1591567969 | GLRA1 | c.1046G= (p.Arg349=) c.*804G= (n.*804G=) c.797G= (p.Arg266=) | |
5 | g.151828934C>G | CA361851263 | GLRA1 | c.1046G>C (p.Arg349Pro) c.*804G>C (n.*804G>C) c.797G>C (p.Arg266Pro) | |
5 | g.151828934C>T | CA3523548 | GLRA1 | c.1046G>A (p.Arg349Gln) c.*804G>A (n.*804G>A) c.797G>A (p.Arg266Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.151828935G>A | CA130010033 | GLRA1 | c.1045C>T (p.Arg349Trp) c.*803C>T (n.*803C>T) c.796C>T (p.Arg266Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.151828935G>C | CA361851267 | GLRA1 | c.1045C>G (p.Arg349Gly) c.*803C>G (n.*803C>G) c.796C>G (p.Arg266Gly) | |
5 | g.151828935G= | CA1591567970 | GLRA1 | c.1045C= (p.Arg349=) c.*803C= (n.*803C=) c.796C= (p.Arg266=) | |
5 | g.151828935G>T | CA3523549 | GLRA1 | c.1045C>A (p.Arg349=) c.*803C>A (n.*803C>A) c.796C>A (p.Arg266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828936C>A | CA361851268 | GLRA1 | c.1044G>T (p.Lys348Asn) c.*802G>T (n.*802G>T) c.795G>T (p.Lys265Asn) | |
5 | g.151828936C>G | CA361851270 | GLRA1 | c.1044G>C (p.Lys348Asn) c.*802G>C (n.*802G>C) c.795G>C (p.Lys265Asn) | |
5 | g.151828936C>T | CA447226726 | GLRA1 | c.1044G>A (p.Lys348=) c.*802G>A (n.*802G>A) c.795G>A (p.Lys265=) | |
5 | g.151828937T>A | CA361851273 | GLRA1 | c.1043A>T (p.Lys348Met) c.*801A>T (n.*801A>T) c.794A>T (p.Lys265Met) | |
5 | g.151828937T>C | CA361851275 | GLRA1 | c.1043A>G (p.Lys348Arg) c.*801A>G (n.*801A>G) c.794A>G (p.Lys265Arg) | |
5 | g.151828937T>G | CA361851277 | GLRA1 | c.1043A>C (p.Lys348Thr) c.*801A>C (n.*801A>C) c.794A>C (p.Lys265Thr) | |
5 | g.151828938T>A | CA361851282 | GLRA1 | c.1042A>T (p.Lys348Ter) c.*800A>T (n.*800A>T) c.793A>T (p.Lys265Ter) | |
5 | g.151828938T>C | CA361851278 | GLRA1 | c.1042A>G (p.Lys348Glu) c.*800A>G (n.*800A>G) c.793A>G (p.Lys265Glu) | |
5 | g.151828938T>G | CA361851280 | GLRA1 | c.1042A>C (p.Lys348Gln) c.*800A>C (n.*800A>C) c.793A>C (p.Lys265Gln) | |
5 | g.151828939C>A | CA361851285 | GLRA1 | c.1041G>T (p.Arg347Ser) c.*799G>T (n.*799G>T) c.792G>T (p.Arg264Ser) | |
5 | g.151828939C= | CA1591567971 | GLRA1 | c.1041G= (p.Arg347=) c.*799G= (n.*799G=) c.792G= (p.Arg264=) | |
5 | g.151828939C>G | CA361851287 | GLRA1 | c.1041G>C (p.Arg347Ser) c.*799G>C (n.*799G>C) c.792G>C (p.Arg264Ser) | |
5 | g.151828939C>T | CA3523550 | GLRA1 | c.1041G>A (p.Arg347=) c.*799G>A (n.*799G>A) c.792G>A (p.Arg264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828940C>A | CA361851291 | GLRA1 | c.1040G>T (p.Arg347Met) c.*798G>T (n.*798G>T) c.791G>T (p.Arg264Met) | |
5 | g.151828940C= | CA1591567972 | GLRA1 | c.1040G= (p.Arg347=) c.*798G= (n.*798G=) c.791G= (p.Arg264=) | |
5 | g.151828940C>G | CA3523551 | GLRA1 | c.1040G>C (p.Arg347Thr) c.*798G>C (n.*798G>C) c.791G>C (p.Arg264Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828940C>T | CA361851292 | GLRA1 | c.1040G>A (p.Arg347Lys) c.*798G>A (n.*798G>A) c.791G>A (p.Arg264Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828941T>A | CA361851294 | GLRA1 | c.1039A>T (p.Arg347Trp) c.*797A>T (n.*797A>T) c.790A>T (p.Arg264Trp) | |
5 | g.151828941T>C | CA361851295 | GLRA1 | c.1039A>G (p.Arg347Gly) c.*797A>G (n.*797A>G) c.790A>G (p.Arg264Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828941T>G | CA447226727 | GLRA1 | c.1039A>C (p.Arg347=) c.*797A>C (n.*797A>C) c.790A>C (p.Arg264=) | |
5 | g.151828941T= | CA1591567973 | GLRA1 | c.1039A= (p.Arg347=) c.*797A= (n.*797A=) c.790A= (p.Arg264=) | |
5 | g.151828942C>A | CA361851299 | GLRA1 | c.1038G>T (p.Arg346Ser) c.*796G>T (n.*796G>T) c.789G>T (p.Arg263Ser) | |
5 | g.151828942C= | CA1591567974 | GLRA1 | c.1038G= (p.Arg346=) c.*796G= (n.*796G=) c.789G= (p.Arg263=) | |
5 | g.151828942C>G | CA361851301 | GLRA1 | c.1038G>C (p.Arg346Ser) c.*796G>C (n.*796G>C) c.789G>C (p.Arg263Ser) | |
5 | g.151828942C>T | CA447226728 | GLRA1 | c.1038G>A (p.Arg346=) c.*796G>A (n.*796G>A) c.789G>A (p.Arg263=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151828943C>A | CA361851306 | GLRA1 | c.1037G>T (p.Arg346Met) c.*795G>T (n.*795G>T) c.788G>T (p.Arg263Met) | |
5 | g.151828943C>G | CA361851304 | GLRA1 | c.1037G>C (p.Arg346Thr) c.*795G>C (n.*795G>C) c.788G>C (p.Arg263Thr) | |
5 | g.151828943C>T | CA361851303 | GLRA1 | c.1037G>A (p.Arg346Lys) c.*795G>A (n.*795G>A) c.788G>A (p.Arg263Lys) | |
5 | g.151828944T>A | CA361851309 | GLRA1 | c.1036A>T (p.Arg346Trp) c.*794A>T (n.*794A>T) c.787A>T (p.Arg263Trp) | |
5 | g.151828944T>C | CA361851311 | GLRA1 | c.1036A>G (p.Arg346Gly) c.*794A>G (n.*794A>G) c.787A>G (p.Arg263Gly) | |
5 | g.151828944T>G | CA447226729 | GLRA1 | c.1036A>C (p.Arg346=) c.*794A>C (n.*794A>C) c.787A>C (p.Arg263=) | |
5 | g.151828945G>A | CA447226730 | GLRA1 | c.1035C>T (p.Phe345=) c.*793C>T (n.*793C>T) c.786C>T (p.Phe262=) | dbSNP gnomAD v4 |
5 | g.151828945G>C | CA361851324 | GLRA1 | c.1035C>G (p.Phe345Leu) c.*793C>G (n.*793C>G) c.786C>G (p.Phe262Leu) | |
5 | g.151828945G= | CA1591567975 | GLRA1 | c.1035C= (p.Phe345=) c.*793C= (n.*793C=) c.786C= (p.Phe262=) | |
5 | g.151828945G>T | CA361851326 | GLRA1 | c.1035C>A (p.Phe345Leu) c.*793C>A (n.*793C>A) c.786C>A (p.Phe262Leu) | dbSNP |
5 | g.151828946A>C | CA361851329 | GLRA1 | c.1034T>G (p.Phe345Cys) c.*792T>G (n.*792T>G) c.785T>G (p.Phe262Cys) | |
5 | g.151828946A>G | CA361851330 | GLRA1 | c.1034T>C (p.Phe345Ser) c.*792T>C (n.*792T>C) c.785T>C (p.Phe262Ser) | |
5 | g.151828946A>T | CA361851332 | GLRA1 | c.1034T>A (p.Phe345Tyr) c.*792T>A (n.*792T>A) c.785T>A (p.Phe262Tyr) | |
5 | g.151828947A= | CA1591567976 | GLRA1 | c.1033T= (p.Phe345=) c.*791T= (n.*791T=) c.784T= (p.Phe262=) | |
5 | g.151828947A>C | CA361851333 | GLRA1 | c.1033T>G (p.Phe345Val) c.*791T>G (n.*791T>G) c.784T>G (p.Phe262Val) | |
5 | g.151828947A>G | CA130010050 | GLRA1 | c.1033T>C (p.Phe345Leu) c.*791T>C (n.*791T>C) c.784T>C (p.Phe262Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.151828947A>T | CA361851337 | GLRA1 | c.1033T>A (p.Phe345Ile) c.*791T>A (n.*791T>A) c.784T>A (p.Phe262Ile) | |
5 | g.151828948T>A | CA447226731 | GLRA1 | c.1032A>T (p.Arg344=) c.*790A>T (n.*790A>T) c.783A>T (p.Arg261=) | |
5 | g.151828948T>C | CA3523552 | GLRA1 | c.1032A>G (p.Arg344=) c.*790A>G (n.*790A>G) c.783A>G (p.Arg261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828948T>G | CA447226732 | GLRA1 | c.1032A>C (p.Arg344=) c.*790A>C (n.*790A>C) c.783A>C (p.Arg261=) | |
5 | g.151828948T= | CA1591567977 | GLRA1 | c.1032A= (p.Arg344=) c.*790A= (n.*790A=) c.783A= (p.Arg261=) | |
5 | g.151828949C>A | CA361851343 | GLRA1 | c.1031G>T (p.Arg344Leu) c.*789G>T (n.*789G>T) c.782G>T (p.Arg261Leu) | gnomAD v4 |
5 | g.151828949C= | CA1591567978 | GLRA1 | c.1031G= (p.Arg344=) c.*789G= (n.*789G=) c.782G= (p.Arg261=) | |
5 | g.151828949C>G | CA361851341 | GLRA1 | c.1031G>C (p.Arg344Pro) c.*789G>C (n.*789G>C) c.782G>C (p.Arg261Pro) | dbSNP |
5 | g.151828949C>T | CA3523553 | GLRA1 | c.1031G>A (p.Arg344Gln) c.*789G>A (n.*789G>A) c.782G>A (p.Arg261Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828950G>A | CA356531 | GLRA1 | c.1030C>T (p.Arg344Ter) c.*788C>T (n.*788C>T) c.781C>T (p.Arg261Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828950G>C | CA361851346 | GLRA1 | c.1030C>G (p.Arg344Gly) c.*788C>G (n.*788C>G) c.781C>G (p.Arg261Gly) | |
5 | g.151828950G= | CA1591567979 | GLRA1 | c.1030C= (p.Arg344=) c.*788C= (n.*788C=) c.781C= (p.Arg261=) | |
5 | g.151828950G>T | CA447226733 | GLRA1 | c.1030C>A (p.Arg344=) c.*788C>A (n.*788C>A) c.781C>A (p.Arg261=) | |
5 | g.151828951G>A | CA447226734 | GLRA1 | c.1029C>T (p.Leu343=) c.*787C>T (n.*787C>T) c.780C>T (p.Leu260=) | |
5 | g.151828951G>C | CA447226735 | GLRA1 | c.1029C>G (p.Leu343=) c.*787C>G (n.*787C>G) c.780C>G (p.Leu260=) | |
5 | g.151828951G>T | CA447226736 | GLRA1 | c.1029C>A (p.Leu343=) c.*787C>A (n.*787C>A) c.780C>A (p.Leu260=) | |
5 | g.151828952A= | CA1591567980 | GLRA1 | c.1028T= (p.Leu343=) c.*786T= (n.*786T=) c.779T= (p.Leu260=) | |
5 | g.151828952A>C | CA361851348 | GLRA1 | c.1028T>G (p.Leu343Arg) c.*786T>G (n.*786T>G) c.779T>G (p.Leu260Arg) | |
5 | g.151828952A>G | CA3523554 | GLRA1 | c.1028T>C (p.Leu343Pro) c.*786T>C (n.*786T>C) c.779T>C (p.Leu260Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828952A>T | CA361851350 | GLRA1 | c.1028T>A (p.Leu343His) c.*786T>A (n.*786T>A) c.779T>A (p.Leu260His) | |
5 | g.151828953G>A | CA361851354 | GLRA1 | c.1027C>T (p.Leu343Phe) c.*785C>T (n.*785C>T) c.778C>T (p.Leu260Phe) | |
5 | g.151828953G>C | CA361851356 | GLRA1 | c.1027C>G (p.Leu343Val) c.*785C>G (n.*785C>G) c.778C>G (p.Leu260Val) | |
5 | g.151828953G>T | CA361851357 | GLRA1 | c.1027C>A (p.Leu343Ile) c.*785C>A (n.*785C>A) c.778C>A (p.Leu260Ile) | COSMIC |
5 | g.151828954C>A | CA447226739 | GLRA1 | c.1026G>T (p.Leu342=) c.*784G>T (n.*784G>T) c.777G>T (p.Leu259=) | |
5 | g.151828954C>G | CA447226737 | GLRA1 | c.1026G>C (p.Leu342=) c.*784G>C (n.*784G>C) c.777G>C (p.Leu259=) | |
5 | g.151828954C>T | CA447226738 | GLRA1 | c.1026G>A (p.Leu342=) c.*784G>A (n.*784G>A) c.777G>A (p.Leu259=) | |
5 | g.151828955A>C | CA361851360 | GLRA1 | c.1025T>G (p.Leu342Arg) c.*783T>G (n.*783T>G) c.776T>G (p.Leu259Arg) | |
5 | g.151828955A>G | CA361851361 | GLRA1 | c.1025T>C (p.Leu342Pro) c.*783T>C (n.*783T>C) c.776T>C (p.Leu259Pro) | |
5 | g.151828955A>T | CA361851363 | GLRA1 | c.1025T>A (p.Leu342Gln) c.*783T>A (n.*783T>A) c.776T>A (p.Leu259Gln) | |
5 | g.151828956G>A | CA447226740 | GLRA1 | c.1024C>T (p.Leu342=) c.*782C>T (n.*782C>T) c.775C>T (p.Leu259=) | gnomAD v4 |
5 | g.151828956G>C | CA361851365 | GLRA1 | c.1024C>G (p.Leu342Val) c.*782C>G (n.*782C>G) c.775C>G (p.Leu259Val) | |
5 | g.151828956G>T | CA361851367 | GLRA1 | c.1024C>A (p.Leu342Met) c.*782C>A (n.*782C>A) c.775C>A (p.Leu259Met) | |
5 | g.151828957C>A | CA361851371 | GLRA1 | c.1023G>T (p.Glu341Asp) c.*781G>T (n.*781G>T) c.774G>T (p.Glu258Asp) | |
5 | g.151828957C= | CA1591567981 | GLRA1 | c.1023G= (p.Glu341=) c.*781G= (n.*781G=) c.774G= (p.Glu258=) | |
5 | g.151828957C>G | CA361851369 | GLRA1 | c.1023G>C (p.Glu341Asp) c.*781G>C (n.*781G>C) c.774G>C (p.Glu258Asp) | |
5 | g.151828957C>T | CA447226741 | GLRA1 | c.1023G>A (p.Glu341=) c.*781G>A (n.*781G>A) c.774G>A (p.Glu258=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828958T>A | CA361851374 | GLRA1 | c.1022A>T (p.Glu341Val) c.*780A>T (n.*780A>T) c.773A>T (p.Glu258Val) | |
5 | g.151828958T>C | CA3523555 | GLRA1 | c.1022A>G (p.Glu341Gly) c.*780A>G (n.*780A>G) c.773A>G (p.Glu258Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828958T>G | CA361851375 | GLRA1 | c.1022A>C (p.Glu341Ala) c.*780A>C (n.*780A>C) c.773A>C (p.Glu258Ala) | |
5 | g.151828958T= | CA1591567982 | GLRA1 | c.1022A= (p.Glu341=) c.*780A= (n.*780A=) c.773A= (p.Glu258=) | |
5 | g.151828959C>A | CA361851379 | GLRA1 | c.1021G>T (p.Glu341Ter) c.*779G>T (n.*779G>T) c.772G>T (p.Glu258Ter) | |
5 | g.151828959C= | CA1591567984 | GLRA1 | c.1021G= (p.Glu341=) c.*779G= (n.*779G=) c.772G= (p.Glu258=) | |
5 | g.151828959C>G | CA130010070 | GLRA1 | c.1021G>C (p.Glu341Gln) c.*779G>C (n.*779G>C) c.772G>C (p.Glu258Gln) | dbSNP gnomAD v4 |
5 | g.151828959C>T | CA361851383 | GLRA1 | c.1021G>A (p.Glu341Lys) c.*779G>A (n.*779G>A) c.772G>A (p.Glu258Lys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151828959_151828962delinsCCTT | CA1591567983 | GLRA1 | c.1018_1021delinsAAGG (p.Lys340=) c.*776_*779delinsAAGG (n.*776_*779delinsAAGG) c.769_772delinsAAGG (p.Lys257=) | |
5 | g.151828960C>A | CA361851386 | GLRA1 | c.1020G>T (p.Lys340Asn) c.*778G>T (n.*778G>T) c.771G>T (p.Lys257Asn) | |
5 | g.151828960C>G | CA361851388 | GLRA1 | c.1020G>C (p.Lys340Asn) c.*778G>C (n.*778G>C) c.771G>C (p.Lys257Asn) | |
5 | g.151828960C>T | CA447226742 | GLRA1 | c.1020G>A (p.Lys340=) c.*778G>A (n.*778G>A) c.771G>A (p.Lys257=) | |
5 | g.151828960_151828962del | CA3523556 | GLRA1 | c.1018_1020del (p.Lys340del) c.*776_*778del (n.*776_*778del) c.769_771del (p.Lys257del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828961T>A | CA361851392 | GLRA1 | c.1019A>T (p.Lys340Met) c.*777A>T (n.*777A>T) c.770A>T (p.Lys257Met) | |
5 | g.151828961T>C | CA361851394 | GLRA1 | c.1019A>G (p.Lys340Arg) c.*777A>G (n.*777A>G) c.770A>G (p.Lys257Arg) | |
5 | g.151828961T>G | CA361851396 | GLRA1 | c.1019A>C (p.Lys340Thr) c.*777A>C (n.*777A>C) c.770A>C (p.Lys257Thr) | |
5 | g.151828962T>A | CA361851398 | GLRA1 | c.1018A>T (p.Lys340Ter) c.*776A>T (n.*776A>T) c.769A>T (p.Lys257Ter) | |
5 | g.151828962T>C | CA361851401 | GLRA1 | c.1018A>G (p.Lys340Glu) c.*776A>G (n.*776A>G) c.769A>G (p.Lys257Glu) | |
5 | g.151828962T>G | CA361851403 | GLRA1 | c.1018A>C (p.Lys340Gln) c.*776A>C (n.*776A>C) c.769A>C (p.Lys257Gln) | |
5 | g.151828963A= | CA1591567985 | GLRA1 | c.1017T= (p.His339=) c.*775T= (n.*775T=) c.768T= (p.His256=) | |
5 | g.151828963A>C | CA361851410 | GLRA1 | c.1017T>G (p.His339Gln) c.*775T>G (n.*775T>G) c.768T>G (p.His256Gln) | dbSNP |
5 | g.151828963A>G | CA447226743 | GLRA1 | c.1017T>C (p.His339=) c.*775T>C (n.*775T>C) c.768T>C (p.His256=) | |
5 | g.151828963A>T | CA130010074 | GLRA1 | c.1017T>A (p.His339Gln) c.*775T>A (n.*775T>A) c.768T>A (p.His256Gln) | dbSNP |
5 | g.151828964T>A | CA361851412 | GLRA1 | c.1016A>T (p.His339Leu) c.*774A>T (n.*774A>T) c.767A>T (p.His256Leu) | |
5 | g.151828964T>C | CA3523557 | GLRA1 | c.1016A>G (p.His339Arg) c.*774A>G (n.*774A>G) c.767A>G (p.His256Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828964T>G | CA361851422 | GLRA1 | c.1016A>C (p.His339Pro) c.*774A>C (n.*774A>C) c.767A>C (p.His256Pro) | |
5 | g.151828964T= | CA1591567986 | GLRA1 | c.1016A= (p.His339=) c.*774A= (n.*774A=) c.767A= (p.His256=) | |
5 | g.151828965G>A | CA361851424 | GLRA1 | c.1015C>T (p.His339Tyr) c.*773C>T (n.*773C>T) c.766C>T (p.His256Tyr) | |
5 | g.151828965G>C | CA361851427 | GLRA1 | c.1015C>G (p.His339Asp) c.*773C>G (n.*773C>G) c.766C>G (p.His256Asp) | |
5 | g.151828965G>T | CA361851429 | GLRA1 | c.1015C>A (p.His339Asn) c.*773C>A (n.*773C>A) c.766C>A (p.His256Asn) | |
5 | g.151828965_151828966delinsGT | CA1591567987 | GLRA1 | c.1014_1015delinsAC (p.Gln338=) c.*772_*773delinsAC (n.*772_*773delinsAC) c.765_766delinsAC (p.Gln255=) | |
5 | g.151828966T>A | CA361851432 | GLRA1 | c.1014A>T (p.Gln338His) c.*772A>T (n.*772A>T) c.765A>T (p.Gln255His) | |
5 | g.151828966T>C | CA447226744 | GLRA1 | c.1014A>G (p.Gln338=) c.*772A>G (n.*772A>G) c.765A>G (p.Gln255=) | |
5 | g.151828966T>G | CA361851434 | GLRA1 | c.1014A>C (p.Gln338His) c.*772A>C (n.*772A>C) c.765A>C (p.Gln255His) | |
5 | g.151828967del | CA1082972490 | GLRA1 | c.1014del (p.Gln338HisfsTer?) c.1014del (p.Gln338HisfsTer20) c.*772del (n.*772del) c.765del (p.Gln255HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151828967T>A | CA361851436 | GLRA1 | c.1013A>T (p.Gln338Leu) c.*771A>T (n.*771A>T) c.764A>T (p.Gln255Leu) | |
5 | g.151828967T>C | CA361851437 | GLRA1 | c.1013A>G (p.Gln338Arg) c.*771A>G (n.*771A>G) c.764A>G (p.Gln255Arg) | |
5 | g.151828967T>G | CA361851439 | GLRA1 | c.1013A>C (p.Gln338Pro) c.*771A>C (n.*771A>C) c.764A>C (p.Gln255Pro) | |
5 | g.151828968G>A | CA361851443 | GLRA1 | c.1012C>T (p.Gln338Ter) c.*770C>T (n.*770C>T) c.763C>T (p.Gln255Ter) | |
5 | g.151828968G>C | CA361851444 | GLRA1 | c.1012C>G (p.Gln338Glu) c.*770C>G (n.*770C>G) c.763C>G (p.Gln255Glu) | |
5 | g.151828968G>T | CA361851441 | GLRA1 | c.1012C>A (p.Gln338Lys) c.*770C>A (n.*770C>A) c.763C>A (p.Gln255Lys) | |
5 | g.151828969C>A | CA447226747 | GLRA1 | c.1011G>T (p.Arg337=) c.*769G>T (n.*769G>T) c.762G>T (p.Arg254=) | |
5 | g.151828969C>G | CA447226746 | GLRA1 | c.1011G>C (p.Arg337=) c.*769G>C (n.*769G>C) c.762G>C (p.Arg254=) | |
5 | g.151828969C>T | CA447226745 | GLRA1 | c.1011G>A (p.Arg337=) c.*769G>A (n.*769G>A) c.762G>A (p.Arg254=) | gnomAD v4 |
5 | g.151828970C>A | CA361851447 | GLRA1 | c.1010G>T (p.Arg337Leu) c.*768G>T (n.*768G>T) c.761G>T (p.Arg254Leu) | |
5 | g.151828970C= | CA1591567988 | GLRA1 | c.1010G= (p.Arg337=) c.*768G= (n.*768G=) c.761G= (p.Arg254=) | |
5 | g.151828970C>G | CA361851449 | GLRA1 | c.1010G>C (p.Arg337Pro) c.*768G>C (n.*768G>C) c.761G>C (p.Arg254Pro) | |
5 | g.151828970C>T | CA361851451 | GLRA1 | c.1010G>A (p.Arg337Gln) c.*768G>A (n.*768G>A) c.761G>A (p.Arg254Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828971G>A | CA3523558 | GLRA1 | c.1009C>T (p.Arg337Trp) c.*767C>T (n.*767C>T) c.760C>T (p.Arg254Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828971G>C | CA361851455 | GLRA1 | c.1009C>G (p.Arg337Gly) c.*767C>G (n.*767C>G) c.760C>G (p.Arg254Gly) | |
5 | g.151828971G= | CA1591567989 | GLRA1 | c.1009C= (p.Arg337=) c.*767C= (n.*767C=) c.760C= (p.Arg254=) | |
5 | g.151828971G>T | CA447226748 | GLRA1 | c.1009C>A (p.Arg337=) c.*767C>A (n.*767C>A) c.760C>A (p.Arg254=) | |
5 | g.151828972A>C | CA447226749 | GLRA1 | c.1008T>G (p.Ser336=) c.*766T>G (n.*766T>G) c.759T>G (p.Ser253=) | |
5 | g.151828972A>G | CA447226750 | GLRA1 | c.1008T>C (p.Ser336=) c.*766T>C (n.*766T>C) c.759T>C (p.Ser253=) | |
5 | g.151828972A>T | CA447226751 | GLRA1 | c.1008T>A (p.Ser336=) c.*766T>A (n.*766T>A) c.759T>A (p.Ser253=) | |
5 | g.151828973G>A | CA361851459 | GLRA1 | c.1007C>T (p.Ser336Phe) c.*765C>T (n.*765C>T) c.758C>T (p.Ser253Phe) | |
5 | g.151828973G>C | CA361851458 | GLRA1 | c.1007C>G (p.Ser336Cys) c.*765C>G (n.*765C>G) c.758C>G (p.Ser253Cys) | |
5 | g.151828973G>T | CA361851457 | GLRA1 | c.1007C>A (p.Ser336Tyr) c.*765C>A (n.*765C>A) c.758C>A (p.Ser253Tyr) | |
5 | g.151828974A>C | CA361851461 | GLRA1 | c.1006T>G (p.Ser336Ala) c.*764T>G (n.*764T>G) c.757T>G (p.Ser253Ala) | |
5 | g.151828974A>G | CA361851463 | GLRA1 | c.1006T>C (p.Ser336Pro) c.*764T>C (n.*764T>C) c.757T>C (p.Ser253Pro) | |
5 | g.151828974A>T | CA361851465 | GLRA1 | c.1006T>A (p.Ser336Thr) c.*764T>A (n.*764T>A) c.757T>A (p.Ser253Thr) | |
5 | g.151828975C>A | CA447226752 | GLRA1 | c.1005G>T (p.Val335=) c.*763G>T (n.*763G>T) c.756G>T (p.Val252=) | |
5 | g.151828975C>G | CA447226753 | GLRA1 | c.1005G>C (p.Val335=) c.*763G>C (n.*763G>C) c.756G>C (p.Val252=) | |
5 | g.151828975C>T | CA447226754 | GLRA1 | c.1005G>A (p.Val335=) c.*763G>A (n.*763G>A) c.756G>A (p.Val252=) | |
5 | g.151828976A>C | CA361851469 | GLRA1 | c.1004T>G (p.Val335Gly) c.*762T>G (n.*762T>G) c.755T>G (p.Val252Gly) | |
5 | g.151828976A>G | CA361851471 | GLRA1 | c.1004T>C (p.Val335Ala) c.*762T>C (n.*762T>C) c.755T>C (p.Val252Ala) | |
5 | g.151828976A>T | CA361851473 | GLRA1 | c.1004T>A (p.Val335Glu) c.*762T>A (n.*762T>A) c.755T>A (p.Val252Glu) | |
5 | g.151828977C>A | CA361851476 | GLRA1 | c.1003G>T (p.Val335Leu) c.*761G>T (n.*761G>T) c.754G>T (p.Val252Leu) | |
5 | g.151828977C= | CA1591567990 | GLRA1 | c.1003G= (p.Val335=) c.*761G= (n.*761G=) c.754G= (p.Val252=) | |
5 | g.151828977C>G | CA361851480 | GLRA1 | c.1003G>C (p.Val335Leu) c.*761G>C (n.*761G>C) c.754G>C (p.Val252Leu) | |
5 | g.151828977C>T | CA361851478 | GLRA1 | c.1003G>A (p.Val335Met) c.*761G>A (n.*761G>A) c.754G>A (p.Val252Met) | |
5 | g.151828978A>C | CA361851482 | GLRA1 | c.1002T>G (p.Phe334Leu) c.*760T>G (n.*760T>G) c.753T>G (p.Phe251Leu) | |
5 | g.151828978A>G | CA447226755 | GLRA1 | c.1002T>C (p.Phe334=) c.*760T>C (n.*760T>C) c.753T>C (p.Phe251=) | |
5 | g.151828978A>T | CA361851483 | GLRA1 | c.1002T>A (p.Phe334Leu) c.*760T>A (n.*760T>A) c.753T>A (p.Phe251Leu) | |
5 | g.151828980dup | CA130010076 | GLRA1 | c.1002dup (p.Val335CysfsTer6) c.*760dup (n.*760dup) c.753dup (p.Val252CysfsTer6) | dbSNP |
5 | g.151828979A>C | CA361851485 | GLRA1 | c.1001T>G (p.Phe334Cys) c.*759T>G (n.*759T>G) c.752T>G (p.Phe251Cys) | |
5 | g.151828979A>G | CA361851487 | GLRA1 | c.1001T>C (p.Phe334Ser) c.*759T>C (n.*759T>C) c.752T>C (p.Phe251Ser) | ClinVar |
5 | g.151828979A>T | CA361851490 | GLRA1 | c.1001T>A (p.Phe334Tyr) c.*759T>A (n.*759T>A) c.752T>A (p.Phe251Tyr) | |
5 | g.151828979_151828989delinsAAGTTAACGGC | CA1591567991 | GLRA1 | c.991_1001delinsGCCGTTAACTT (p.Ala331=) c.*749_*759delinsGCCGTTAACTT (n.*749_*759delinsGCCGTTAACTT) c.742_752delinsGCCGTTAACTT (p.Ala248=) | |
5 | g.151828980A>C | CA361851493 | GLRA1 | c.1000T>G (p.Phe334Val) c.*758T>G (n.*758T>G) c.751T>G (p.Phe251Val) | |
5 | g.151828980A>G | CA361851496 | GLRA1 | c.1000T>C (p.Phe334Leu) c.*758T>C (n.*758T>C) c.751T>C (p.Phe251Leu) | |
5 | g.151828980A>T | CA361851498 | GLRA1 | c.1000T>A (p.Phe334Ile) c.*758T>A (n.*758T>A) c.751T>A (p.Phe251Ile) | |
5 | g.151828982_151828991del | CA1591567992 | GLRA1 | c.991_1000del (p.Ala331LeufsTer?) c.991_1000del (p.Ala331LeufsTer24) c.*749_*758del (n.*749_*758del) c.742_751del (p.Ala248LeufsTer?) | ClinVar dbSNP |
5 | g.151828981G>A | CA447226756 | GLRA1 | c.999C>T (p.Asn333=) c.*757C>T (n.*757C>T) c.750C>T (p.Asn250=) | dbSNP |
5 | g.151828981G>C | CA361851501 | GLRA1 | c.999C>G (p.Asn333Lys) c.*757C>G (n.*757C>G) c.750C>G (p.Asn250Lys) | |
5 | g.151828981G= | CA1591567993 | GLRA1 | c.999C= (p.Asn333=) c.*757C= (n.*757C=) c.750C= (p.Asn250=) | |
5 | g.151828981G>T | CA361851503 | GLRA1 | c.999C>A (p.Asn333Lys) c.*757C>A (n.*757C>A) c.750C>A (p.Asn250Lys) |