Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
5 | g.151828982T>A | CA361851512 | GLRA1 | c.998A>T (p.Asn333Ile) c.*756A>T (n.*756A>T) c.749A>T (p.Asn250Ile) | |
5 | g.151828982T>C | CA361851515 | GLRA1 | c.998A>G (p.Asn333Ser) c.*756A>G (n.*756A>G) c.749A>G (p.Asn250Ser) | COSMIC |
5 | g.151828982T>G | CA361851517 | GLRA1 | c.998A>C (p.Asn333Thr) c.*756A>C (n.*756A>C) c.749A>C (p.Asn250Thr) | |
5 | g.151828982_151828992dup | CA2676108795 | GLRA1 | c.988_998dup (p.Asn333LysfsTer?) c.988_998dup (p.Asn333LysfsTer29) c.*746_*756dup (n.*746_*756dup) c.739_749dup (p.Asn250LysfsTer?) | gnomAD v4 |
5 | g.151828983T>A | CA361851522 | GLRA1 | c.997A>T (p.Asn333Tyr) c.*755A>T (n.*755A>T) c.748A>T (p.Asn250Tyr) | |
5 | g.151828983T>C | CA361851524 | GLRA1 | c.997A>G (p.Asn333Asp) c.*755A>G (n.*755A>G) c.748A>G (p.Asn250Asp) | COSMIC |
5 | g.151828983T>G | CA361851520 | GLRA1 | c.997A>C (p.Asn333His) c.*755A>C (n.*755A>C) c.748A>C (p.Asn250His) | gnomAD v4 |
5 | g.151828984A= | CA1591567994 | GLRA1 | c.996T= (p.Val332=) c.*754T= (n.*754T=) c.747T= (p.Val249=) | |
5 | g.151828984A>C | CA447226757 | GLRA1 | c.996T>G (p.Val332=) c.*754T>G (n.*754T>G) c.747T>G (p.Val249=) | |
5 | g.151828984A>G | CA447226758 | GLRA1 | c.996T>C (p.Val332=) c.*754T>C (n.*754T>C) c.747T>C (p.Val249=) | dbSNP gnomAD v4 |
5 | g.151828984A>T | CA447226759 | GLRA1 | c.996T>A (p.Val332=) c.*754T>A (n.*754T>A) c.747T>A (p.Val249=) | |
5 | g.151828985A>C | CA361851527 | GLRA1 | c.995T>G (p.Val332Gly) c.*753T>G (n.*753T>G) c.746T>G (p.Val249Gly) | |
5 | g.151828985A>G | CA361851525 | GLRA1 | c.995T>C (p.Val332Ala) c.*753T>C (n.*753T>C) c.746T>C (p.Val249Ala) | |
5 | g.151828985A>T | CA361851529 | GLRA1 | c.995T>A (p.Val332Asp) c.*753T>A (n.*753T>A) c.746T>A (p.Val249Asp) | gnomAD v4 |
5 | g.151828986C>A | CA361851530 | GLRA1 | c.994G>T (p.Val332Phe) c.*752G>T (n.*752G>T) c.745G>T (p.Val249Phe) | |
5 | g.151828986C= | CA1591567995 | GLRA1 | c.994G= (p.Val332=) c.*752G= (n.*752G=) c.745G= (p.Val249=) | |
5 | g.151828986C>G | CA361851532 | GLRA1 | c.994G>C (p.Val332Leu) c.*752G>C (n.*752G>C) c.745G>C (p.Val249Leu) | COSMIC |
5 | g.151828986C>T | CA361851531 | GLRA1 | c.994G>A (p.Val332Ile) c.*752G>A (n.*752G>A) c.745G>A (p.Val249Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828987G>A | CA3523559 | GLRA1 | c.993C>T (p.Ala331=) c.*751C>T (n.*751C>T) c.744C>T (p.Ala248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151828987G>C | CA447226760 | GLRA1 | c.993C>G (p.Ala331=) c.*751C>G (n.*751C>G) c.744C>G (p.Ala248=) | |
5 | g.151828987G= | CA1591567996 | GLRA1 | c.993C= (p.Ala331=) c.*751C= (n.*751C=) c.744C= (p.Ala248=) | |
5 | g.151828987G>T | CA447226761 | GLRA1 | c.993C>A (p.Ala331=) c.*751C>A (n.*751C>A) c.744C>A (p.Ala248=) | gnomAD v4 |
5 | g.151828988G>A | CA3523560 | GLRA1 | c.992C>T (p.Ala331Val) c.*750C>T (n.*750C>T) c.743C>T (p.Ala248Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.151828988G>C | CA361851534 | GLRA1 | c.992C>G (p.Ala331Gly) c.*750C>G (n.*750C>G) c.743C>G (p.Ala248Gly) | |
5 | g.151828988G= | CA1591567997 | GLRA1 | c.992C= (p.Ala331=) c.*750C= (n.*750C=) c.743C= (p.Ala248=) | |
5 | g.151828988G>T | CA361851535 | GLRA1 | c.992C>A (p.Ala331Asp) c.*750C>A (n.*750C>A) c.743C>A (p.Ala248Asp) | |
5 | g.151828989C>A | CA361851536 | GLRA1 | c.991G>T (p.Ala331Ser) c.*749G>T (n.*749G>T) c.742G>T (p.Ala248Ser) | |
5 | g.151828989C>G | CA361851538 | GLRA1 | c.991G>C (p.Ala331Pro) c.*749G>C (n.*749G>C) c.742G>C (p.Ala248Pro) | |
5 | g.151828989C>T | CA361851544 | GLRA1 | c.991G>A (p.Ala331Thr) c.*749G>A (n.*749G>A) c.742G>A (p.Ala248Thr) | gnomAD v4 |
5 | g.151828990A= | CA1591567998 | GLRA1 | c.990T= (p.Ala330=) c.*748T= (n.*748T=) c.741T= (p.Ala247=) | |
5 | g.151828990A>C | CA447226763 | GLRA1 | c.990T>G (p.Ala330=) c.*748T>G (n.*748T>G) c.741T>G (p.Ala247=) | |
5 | g.151828990A>G | CA130010081 | GLRA1 | c.990T>C (p.Ala330=) c.*748T>C (n.*748T>C) c.741T>C (p.Ala247=) | dbSNP gnomAD v4 |
5 | g.151828990A>T | CA447226762 | GLRA1 | c.990T>A (p.Ala330=) c.*748T>A (n.*748T>A) c.741T>A (p.Ala247=) | |
5 | g.151828991G>A | CA361851548 | GLRA1 | c.989C>T (p.Ala330Val) c.*747C>T (n.*747C>T) c.740C>T (p.Ala247Val) | |
5 | g.151828991G>C | CA361851550 | GLRA1 | c.989C>G (p.Ala330Gly) c.*747C>G (n.*747C>G) c.740C>G (p.Ala247Gly) | |
5 | g.151828991G>T | CA361851553 | GLRA1 | c.989C>A (p.Ala330Asp) c.*747C>A (n.*747C>A) c.740C>A (p.Ala247Asp) | |
5 | g.151828992C>A | CA361851565 | GLRA1 | c.988G>T (p.Ala330Ser) c.*746G>T (n.*746G>T) c.739G>T (p.Ala247Ser) | |
5 | g.151828992C= | CA1591567999 | GLRA1 | c.988G= (p.Ala330=) c.*746G= (n.*746G=) c.739G= (p.Ala247=) | |
5 | g.151828992C>G | CA3523561 | GLRA1 | c.988G>C (p.Ala330Pro) c.*746G>C (n.*746G>C) c.739G>C (p.Ala247Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828992C>T | CA361851557 | GLRA1 | c.988G>A (p.Ala330Thr) c.*746G>A (n.*746G>A) c.739G>A (p.Ala247Thr) | |
5 | g.151828993A= | CA1591568000 | GLRA1 | c.987T= (p.Tyr329=) c.*745T= (n.*745T=) c.738T= (p.Tyr246=) | |
5 | g.151828993A>C | CA361851568 | GLRA1 | c.987T>G (p.Tyr329Ter) c.*745T>G (n.*745T>G) c.738T>G (p.Tyr246Ter) | |
5 | g.151828993A>G | CA447226764 | GLRA1 | c.987T>C (p.Tyr329=) c.*745T>C (n.*745T>C) c.738T>C (p.Tyr246=) | ClinVar dbSNP gnomAD v4 |
5 | g.151828993A>T | CA361851570 | GLRA1 | c.987T>A (p.Tyr329Ter) c.*745T>A (n.*745T>A) c.738T>A (p.Tyr246Ter) | |
5 | g.151828994T>A | CA361851571 | GLRA1 | c.986A>T (p.Tyr329Phe) c.*744A>T (n.*744A>T) c.737A>T (p.Tyr246Phe) | |
5 | g.151828994T>C | CA361851572 | GLRA1 | c.986A>G (p.Tyr329Cys) c.*744A>G (n.*744A>G) c.737A>G (p.Tyr246Cys) | |
5 | g.151828994T>G | CA361851573 | GLRA1 | c.986A>C (p.Tyr329Ser) c.*744A>C (n.*744A>C) c.737A>C (p.Tyr246Ser) | gnomAD v4 |
5 | g.151828995A>C | CA361851574 | GLRA1 | c.985T>G (p.Tyr329Asp) c.*743T>G (n.*743T>G) c.736T>G (p.Tyr246Asp) | |
5 | g.151828995A>G | CA361851576 | GLRA1 | c.985T>C (p.Tyr329His) c.*743T>C (n.*743T>C) c.736T>C (p.Tyr246His) | |
5 | g.151828995A>T | CA361851578 | GLRA1 | c.985T>A (p.Tyr329Asn) c.*743T>A (n.*743T>A) c.736T>A (p.Tyr246Asn) | |
5 | g.151828996T>A | CA361851581 | GLRA1 | c.984A>T (p.Glu328Asp) c.*742A>T (n.*742A>T) c.735A>T (p.Glu245Asp) | |
5 | g.151828996T>C | CA447226765 | GLRA1 | c.984A>G (p.Glu328=) c.*742A>G (n.*742A>G) c.735A>G (p.Glu245=) | |
5 | g.151828996T>G | CA361851582 | GLRA1 | c.984A>C (p.Glu328Asp) c.*742A>C (n.*742A>C) c.735A>C (p.Glu245Asp) | |
5 | g.151828997T>A | CA361851587 | GLRA1 | c.983A>T (p.Glu328Val) c.*741A>T (n.*741A>T) c.734A>T (p.Glu245Val) | |
5 | g.151828997T>C | CA361851589 | GLRA1 | c.983A>G (p.Glu328Gly) c.*741A>G (n.*741A>G) c.734A>G (p.Glu245Gly) | |
5 | g.151828997T>G | CA361851585 | GLRA1 | c.983A>C (p.Glu328Ala) c.*741A>C (n.*741A>C) c.734A>C (p.Glu245Ala) | |
5 | g.151828998C>A | CA361851591 | GLRA1 | c.982G>T (p.Glu328Ter) c.*740G>T (n.*740G>T) c.733G>T (p.Glu245Ter) | |
5 | g.151828998C>G | CA361851593 | GLRA1 | c.982G>C (p.Glu328Gln) c.*740G>C (n.*740G>C) c.733G>C (p.Glu245Gln) | |
5 | g.151828998C>T | CA361851596 | GLRA1 | c.982G>A (p.Glu328Lys) c.*740G>A (n.*740G>A) c.733G>A (p.Glu245Lys) | gnomAD v4 |
5 | g.151828999T>A | CA130010092 | GLRA1 | c.981A>T (p.Leu327Phe) c.*739A>T (n.*739A>T) c.732A>T (p.Leu244Phe) | ClinVar dbSNP |
5 | g.151828999T>C | CA3523562 | GLRA1 | c.981A>G (p.Leu327=) c.*739A>G (n.*739A>G) c.732A>G (p.Leu244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151828999T>G | CA361851599 | GLRA1 | c.981A>C (p.Leu327Phe) c.*739A>C (n.*739A>C) c.732A>C (p.Leu244Phe) | |
5 | g.151828999T= | CA1591568001 | GLRA1 | c.981A= (p.Leu327=) c.*739A= (n.*739A=) c.732A= (p.Leu244=) | |
5 | g.151829000A>C | CA361851601 | GLRA1 | c.980T>G (p.Leu327Ter) c.*738T>G (n.*738T>G) c.731T>G (p.Leu244Ter) | |
5 | g.151829000A>G | CA361851603 | GLRA1 | c.980T>C (p.Leu327Ser) c.*738T>C (n.*738T>C) c.731T>C (p.Leu244Ser) | |
5 | g.151829000A>T | CA361851608 | GLRA1 | c.980T>A (p.Leu327Ter) c.*738T>A (n.*738T>A) c.731T>A (p.Leu244Ter) | |
5 | g.151829001A= | CA1591568002 | GLRA1 | c.979T= (p.Leu327=) c.*737T= (n.*737T=) c.730T= (p.Leu244=) | |
5 | g.151829001A>C | CA361851611 | GLRA1 | c.979T>G (p.Leu327Val) c.*737T>G (n.*737T>G) c.730T>G (p.Leu244Val) | |
5 | g.151829001A>G | CA447226766 | GLRA1 | c.979T>C (p.Leu327=) c.*737T>C (n.*737T>C) c.730T>C (p.Leu244=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151829001A>T | CA361851613 | GLRA1 | c.979T>A (p.Leu327Ile) c.*737T>A (n.*737T>A) c.730T>A (p.Leu244Ile) | |
5 | g.151829002T>A | CA447226767 | GLRA1 | c.978A>T (p.Leu326=) c.*736A>T (n.*736A>T) c.729A>T (p.Leu243=) | gnomAD v4 |
5 | g.151829002T>C | CA130010098 | GLRA1 | c.978A>G (p.Leu326=) c.*736A>G (n.*736A>G) c.729A>G (p.Leu243=) | dbSNP gnomAD v4 |
5 | g.151829002T>G | CA447226768 | GLRA1 | c.978A>C (p.Leu326=) c.*736A>C (n.*736A>C) c.729A>C (p.Leu243=) | |
5 | g.151829002T= | CA1591568003 | GLRA1 | c.978A= (p.Leu326=) c.*736A= (n.*736A=) c.729A= (p.Leu243=) | |
5 | g.151829003A>C | CA361851616 | GLRA1 | c.977T>G (p.Leu326Arg) c.*735T>G (n.*735T>G) c.728T>G (p.Leu243Arg) | |
5 | g.151829003A>G | CA361851619 | GLRA1 | c.977T>C (p.Leu326Pro) c.*735T>C (n.*735T>C) c.728T>C (p.Leu243Pro) | |
5 | g.151829003A>T | CA361851621 | GLRA1 | c.977T>A (p.Leu326Gln) c.*735T>A (n.*735T>A) c.728T>A (p.Leu243Gln) | |
5 | g.151829004G>A | CA447226769 | GLRA1 | c.976C>T (p.Leu326=) c.*734C>T (n.*734C>T) c.727C>T (p.Leu243=) | |
5 | g.151829004G>C | CA361851623 | GLRA1 | c.976C>G (p.Leu326Val) c.*734C>G (n.*734C>G) c.727C>G (p.Leu243Val) | |
5 | g.151829004G>T | CA361851625 | GLRA1 | c.976C>A (p.Leu326Ile) c.*734C>A (n.*734C>A) c.727C>A (p.Leu243Ile) | |
5 | g.151829005G>A | CA447226770 | GLRA1 | c.975C>T (p.Ala325=) c.*733C>T (n.*733C>T) c.726C>T (p.Ala242=) | |
5 | g.151829005G>C | CA447226771 | GLRA1 | c.975C>G (p.Ala325=) c.*733C>G (n.*733C>G) c.726C>G (p.Ala242=) | |
5 | g.151829005G>T | CA447226772 | GLRA1 | c.975C>A (p.Ala325=) c.*733C>A (n.*733C>A) c.726C>A (p.Ala242=) | COSMIC |
5 | g.151829006G>A | CA361851627 | GLRA1 | c.974C>T (p.Ala325Val) c.*732C>T (n.*732C>T) c.725C>T (p.Ala242Val) | gnomAD v4 |
5 | g.151829006G>C | CA361851629 | GLRA1 | c.974C>G (p.Ala325Gly) c.*732C>G (n.*732C>G) c.725C>G (p.Ala242Gly) | |
5 | g.151829006G= | CA1591568004 | GLRA1 | c.974C= (p.Ala325=) c.*732C= (n.*732C=) c.725C= (p.Ala242=) | |
5 | g.151829006G>T | CA3523563 | GLRA1 | c.974C>A (p.Ala325Asp) c.*732C>A (n.*732C>A) c.725C>A (p.Ala242Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151829007C>A | CA361851632 | GLRA1 | c.973G>T (p.Ala325Ser) c.*731G>T (n.*731G>T) c.724G>T (p.Ala242Ser) | |
5 | g.151829007C= | CA1591568005 | GLRA1 | c.973G= (p.Ala325=) c.*731G= (n.*731G=) c.724G= (p.Ala242=) | |
5 | g.151829007C>G | CA361851634 | GLRA1 | c.973G>C (p.Ala325Pro) c.*731G>C (n.*731G>C) c.724G>C (p.Ala242Pro) | |
5 | g.151829007C>T | CA361851637 | GLRA1 | c.973G>A (p.Ala325Thr) c.*731G>A (n.*731G>A) c.724G>A (p.Ala242Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151829008T>A | CA447226773 | GLRA1 | c.972A>T (p.Ser324=) c.*730A>T (n.*730A>T) c.723A>T (p.Ser241=) | |
5 | g.151829008T>C | CA3523564 | GLRA1 | c.972A>G (p.Ser324=) c.*730A>G (n.*730A>G) c.723A>G (p.Ser241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151829008T>G | CA447226774 | GLRA1 | c.972A>C (p.Ser324=) c.*730A>C (n.*730A>C) c.723A>C (p.Ser241=) | |
5 | g.151829008T= | CA1591568006 | GLRA1 | c.972A= (p.Ser324=) c.*730A= (n.*730A=) c.723A= (p.Ser241=) | |
5 | g.151829009G>A | CA361851645 | GLRA1 | c.971C>T (p.Ser324Leu) c.*729C>T (n.*729C>T) c.722C>T (p.Ser241Leu) | |
5 | g.151829009G>C | CA361851648 | GLRA1 | c.971C>G (p.Ser324Ter) c.*729C>G (n.*729C>G) c.722C>G (p.Ser241Ter) | |
5 | g.151829009G= | CA1591568007 | GLRA1 | c.971C= (p.Ser324=) c.*729C= (n.*729C=) c.722C= (p.Ser241=) | |
5 | g.151829009G>T | CA257412 | GLRA1 | c.971C>A (p.Ser324Ter) c.*729C>A (n.*729C>A) c.722C>A (p.Ser241Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.151829010A>C | CA361851652 | GLRA1 | c.970T>G (p.Ser324Ala) c.*728T>G (n.*728T>G) c.721T>G (p.Ser241Ala) | |
5 | g.151829010A>G | CA361851655 | GLRA1 | c.970T>C (p.Ser324Pro) c.*728T>C (n.*728T>C) c.721T>C (p.Ser241Pro) | |
5 | g.151829010A>T | CA361851658 | GLRA1 | c.970T>A (p.Ser324Thr) c.*728T>A (n.*728T>A) c.721T>A (p.Ser241Thr) | |
5 | g.151829011G>A | CA447226775 | GLRA1 | c.969C>T (p.Phe323=) c.*727C>T (n.*727C>T) c.720C>T (p.Phe240=) | |
5 | g.151829011G>C | CA361851661 | GLRA1 | c.969C>G (p.Phe323Leu) c.*727C>G (n.*727C>G) c.720C>G (p.Phe240Leu) | |
5 | g.151829011G>T | CA361851660 | GLRA1 | c.969C>A (p.Phe323Leu) c.*727C>A (n.*727C>A) c.720C>A (p.Phe240Leu) | |
5 | g.151829012A>C | CA361851662 | GLRA1 | c.968T>G (p.Phe323Cys) c.*726T>G (n.*726T>G) c.719T>G (p.Phe240Cys) | |
5 | g.151829012A>G | CA361851663 | GLRA1 | c.968T>C (p.Phe323Ser) c.*726T>C (n.*726T>C) c.719T>C (p.Phe240Ser) | |
5 | g.151829012A>T | CA361851664 | GLRA1 | c.968T>A (p.Phe323Tyr) c.*726T>A (n.*726T>A) c.719T>A (p.Phe240Tyr) | |
5 | g.151829013A>C | CA361851666 | GLRA1 | c.967T>G (p.Phe323Val) c.*725T>G (n.*725T>G) c.718T>G (p.Phe240Val) | |
5 | g.151829013A>G | CA361851667 | GLRA1 | c.967T>C (p.Phe323Leu) c.*725T>C (n.*725T>C) c.718T>C (p.Phe240Leu) | |
5 | g.151829013A>T | CA361851670 | GLRA1 | c.967T>A (p.Phe323Ile) c.*725T>A (n.*725T>A) c.718T>A (p.Phe240Ile) | |
5 | g.151829014C>A | CA447226776 | GLRA1 | c.966G>T (p.Val322=) c.*724G>T (n.*724G>T) c.717G>T (p.Val239=) | |
5 | g.151829014C= | CA1591568008 | GLRA1 | c.966G= (p.Val322=) c.*724G= (n.*724G=) c.717G= (p.Val239=) | |
5 | g.151829014C>G | CA447226777 | GLRA1 | c.966G>C (p.Val322=) c.*724G>C (n.*724G>C) c.717G>C (p.Val239=) | |
5 | g.151829014C>T | CA130010135 | GLRA1 | c.966G>A (p.Val322=) c.*724G>A (n.*724G>A) c.717G>A (p.Val239=) | dbSNP |
5 | g.151829015A>C | CA361851674 | GLRA1 | c.965T>G (p.Val322Gly) c.*723T>G (n.*723T>G) c.716T>G (p.Val239Gly) | |
5 | g.151829015A>G | CA361851676 | GLRA1 | c.965T>C (p.Val322Ala) c.*723T>C (n.*723T>C) c.716T>C (p.Val239Ala) | |
5 | g.151829015A>T | CA361851678 | GLRA1 | c.965T>A (p.Val322Glu) c.*723T>A (n.*723T>A) c.716T>A (p.Val239Glu) | |
5 | g.151829016C>A | CA361851681 | GLRA1 | c.964G>T (p.Val322Leu) c.*722G>T (n.*722G>T) c.715G>T (p.Val239Leu) | |
5 | g.151829016C>G | CA361851684 | GLRA1 | c.964G>C (p.Val322Leu) c.*722G>C (n.*722G>C) c.715G>C (p.Val239Leu) | |
5 | g.151829016C>T | CA361851686 | GLRA1 | c.964G>A (p.Val322Met) c.*722G>A (n.*722G>A) c.715G>A (p.Val239Met) | |
5 | g.151829017A= | CA1591568009 | GLRA1 | c.963T= (p.Phe321=) c.*721T= (n.*721T=) c.714T= (p.Phe238=) | |
5 | g.151829017A>C | CA361851690 | GLRA1 | c.963T>G (p.Phe321Leu) c.*721T>G (n.*721T>G) c.714T>G (p.Phe238Leu) | |
5 | g.151829017A>G | CA447226778 | GLRA1 | c.963T>C (p.Phe321=) c.*721T>C (n.*721T>C) c.714T>C (p.Phe238=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151829017A>T | CA361851692 | GLRA1 | c.963T>A (p.Phe321Leu) c.*721T>A (n.*721T>A) c.714T>A (p.Phe238Leu) | |
5 | g.151829018_151829021del | CA2676108860 | GLRA1 | c.960_963del (p.Phe321CysfsTer6) c.*718_*721del (n.*718_*721del) c.711_714del (p.Phe238CysfsTer6) | gnomAD v4 |
5 | g.151829018A>C | CA361851697 | GLRA1 | c.962T>G (p.Phe321Cys) c.*720T>G (n.*720T>G) c.713T>G (p.Phe238Cys) | |
5 | g.151829018A>G | CA361851696 | GLRA1 | c.962T>C (p.Phe321Ser) c.*720T>C (n.*720T>C) c.713T>C (p.Phe238Ser) | |
5 | g.151829018A>T | CA361851695 | GLRA1 | c.962T>A (p.Phe321Tyr) c.*720T>A (n.*720T>A) c.713T>A (p.Phe238Tyr) | |
5 | g.151829019A>C | CA361851700 | GLRA1 | c.961T>G (p.Phe321Val) c.*719T>G (n.*719T>G) c.712T>G (p.Phe238Val) | |
5 | g.151829019A>G | CA361851711 | GLRA1 | c.961T>C (p.Phe321Leu) c.*719T>C (n.*719T>C) c.712T>C (p.Phe238Leu) | |
5 | g.151829019A>T | CA361851714 | GLRA1 | c.961T>A (p.Phe321Ile) c.*719T>A (n.*719T>A) c.712T>A (p.Phe238Ile) | |
5 | g.151829020G>A | CA447226779 | GLRA1 | c.960C>T (p.Leu320=) c.*718C>T (n.*718C>T) c.711C>T (p.Leu237=) | gnomAD v4 |
5 | g.151829020G>C | CA447226780 | GLRA1 | c.960C>G (p.Leu320=) c.*718C>G (n.*718C>G) c.711C>G (p.Leu237=) | |
5 | g.151829020G>T | CA447226781 | GLRA1 | c.960C>A (p.Leu320=) c.*718C>A (n.*718C>A) c.711C>A (p.Leu237=) | |
5 | g.151829021A>C | CA361851716 | GLRA1 | c.959T>G (p.Leu320Arg) c.*717T>G (n.*717T>G) c.710T>G (p.Leu237Arg) | |
5 | g.151829021A>G | CA361851717 | GLRA1 | c.959T>C (p.Leu320Pro) c.*717T>C (n.*717T>C) c.710T>C (p.Leu237Pro) | |
5 | g.151829021A>T | CA361851718 | GLRA1 | c.959T>A (p.Leu320His) c.*717T>A (n.*717T>A) c.710T>A (p.Leu237His) | |
5 | g.151829022G>A | CA361851719 | GLRA1 | c.958C>T (p.Leu320Phe) c.*716C>T (n.*716C>T) c.709C>T (p.Leu237Phe) | |
5 | g.151829022G>C | CA361851723 | GLRA1 | c.958C>G (p.Leu320Val) c.*716C>G (n.*716C>G) c.709C>G (p.Leu237Val) | |
5 | g.151829022G= | CA1591568010 | GLRA1 | c.958C= (p.Leu320=) c.*716C= (n.*716C=) c.709C= (p.Leu237=) | |
5 | g.151829022G>T | CA361851727 | GLRA1 | c.958C>A (p.Leu320Ile) c.*716C>A (n.*716C>A) c.709C>A (p.Leu237Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151829023C>A | CA447226782 | GLRA1 | c.957G>T (p.Leu319=) c.*715G>T (n.*715G>T) c.708G>T (p.Leu236=) | |
5 | g.151829023C>G | CA447226783 | GLRA1 | c.957G>C (p.Leu319=) c.*715G>C (n.*715G>C) c.708G>C (p.Leu236=) | |
5 | g.151829023C>T | CA447226784 | GLRA1 | c.957G>A (p.Leu319=) c.*715G>A (n.*715G>A) c.708G>A (p.Leu236=) | gnomAD v4 |
5 | g.151829024A>C | CA361851731 | GLRA1 | c.956T>G (p.Leu319Arg) c.*714T>G (n.*714T>G) c.707T>G (p.Leu236Arg) | |
5 | g.151829024A>G | CA361851734 | GLRA1 | c.956T>C (p.Leu319Pro) c.*714T>C (n.*714T>C) c.707T>C (p.Leu236Pro) | |
5 | g.151829024A>T | CA361851737 | GLRA1 | c.956T>A (p.Leu319Gln) c.*714T>A (n.*714T>A) c.707T>A (p.Leu236Gln) | |
5 | g.151829025G>A | CA447226785 | GLRA1 | c.955C>T (p.Leu319=) c.*713C>T (n.*713C>T) c.706C>T (p.Leu236=) | |
5 | g.151829025G>C | CA361851740 | GLRA1 | c.955C>G (p.Leu319Val) c.*713C>G (n.*713C>G) c.706C>G (p.Leu236Val) | |
5 | g.151829025G>T | CA361851742 | GLRA1 | c.955C>A (p.Leu319Met) c.*713C>A (n.*713C>A) c.706C>A (p.Leu236Met) | |
5 | g.151829026G>A | CA3523565 | GLRA1 | c.954C>T (p.Cys318=) c.*712C>T (n.*712C>T) c.705C>T (p.Cys235=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151829026G>C | CA361851749 | GLRA1 | c.954C>G (p.Cys318Trp) c.*712C>G (n.*712C>G) c.705C>G (p.Cys235Trp) | |
5 | g.151829026G= | CA1591568011 | GLRA1 | c.954C= (p.Cys318=) c.*712C= (n.*712C=) c.705C= (p.Cys235=) | |
5 | g.151829026G>T | CA361851745 | GLRA1 | c.954C>A (p.Cys318Ter) c.*712C>A (n.*712C>A) c.705C>A (p.Cys235Ter) | |
5 | g.151829027C>A | CA361851753 | GLRA1 | c.953G>T (p.Cys318Phe) c.*711G>T (n.*711G>T) c.704G>T (p.Cys235Phe) | ClinVar dbSNP |
5 | g.151829027C= | CA1591568012 | GLRA1 | c.953G= (p.Cys318=) c.*711G= (n.*711G=) c.704G= (p.Cys235=) | |
5 | g.151829027C>G | CA361851755 | GLRA1 | c.953G>C (p.Cys318Ser) c.*711G>C (n.*711G>C) c.704G>C (p.Cys235Ser) | |
5 | g.151829027C>T | CA361851758 | GLRA1 | c.953G>A (p.Cys318Tyr) c.*711G>A (n.*711G>A) c.704G>A (p.Cys235Tyr) | |
5 | g.151829028A>C | CA361851762 | GLRA1 | c.952T>G (p.Cys318Gly) c.*710T>G (n.*710T>G) c.703T>G (p.Cys235Gly) | |
5 | g.151829028A>G | CA361851764 | GLRA1 | c.952T>C (p.Cys318Arg) c.*710T>C (n.*710T>C) c.703T>C (p.Cys235Arg) | gnomAD v4 |
5 | g.151829028A>T | CA361851766 | GLRA1 | c.952T>A (p.Cys318Ser) c.*710T>A (n.*710T>A) c.703T>A (p.Cys235Ser) | |
5 | g.151829029A>C | CA447226786 | GLRA1 | c.951T>G (p.Val317=) c.*709T>G (n.*709T>G) c.702T>G (p.Val234=) | ClinVar gnomAD v4 |
5 | g.151829029A>G | CA447226787 | GLRA1 | c.951T>C (p.Val317=) c.*709T>C (n.*709T>C) c.702T>C (p.Val234=) | gnomAD v4 |
5 | g.151829029A>T | CA447226788 | GLRA1 | c.951T>A (p.Val317=) c.*709T>A (n.*709T>A) c.702T>A (p.Val234=) | |
5 | g.151829030A>C | CA361851769 | GLRA1 | c.950T>G (p.Val317Gly) c.*708T>G (n.*708T>G) c.701T>G (p.Val234Gly) | |
5 | g.151829030A>G | CA361851771 | GLRA1 | c.950T>C (p.Val317Ala) c.*708T>C (n.*708T>C) c.701T>C (p.Val234Ala) | |
5 | g.151829030A>T | CA361851774 | GLRA1 | c.950T>A (p.Val317Asp) c.*708T>A (n.*708T>A) c.701T>A (p.Val234Asp) | |
5 | g.151829031C>A | CA361851775 | GLRA1 | c.949G>T (p.Val317Phe) c.*707G>T (n.*707G>T) c.700G>T (p.Val234Phe) | |
5 | g.151829031C>G | CA361851776 | GLRA1 | c.949G>C (p.Val317Leu) c.*707G>C (n.*707G>C) c.700G>C (p.Val234Leu) | |
5 | g.151829031C>T | CA361851777 | GLRA1 | c.949G>A (p.Val317Ile) c.*707G>A (n.*707G>A) c.700G>A (p.Val234Ile) | |
5 | g.151829032T>A | CA447226791 | GLRA1 | c.948A>T (p.Ala316=) c.*706A>T (n.*706A>T) c.699A>T (p.Ala233=) | |
5 | g.151829032T>C | CA447226789 | GLRA1 | c.948A>G (p.Ala316=) c.*706A>G (n.*706A>G) c.699A>G (p.Ala233=) | |
5 | g.151829032T>G | CA447226790 | GLRA1 | c.948A>C (p.Ala316=) c.*706A>C (n.*706A>C) c.699A>C (p.Ala233=) | |
5 | g.151829033G>A | CA361851781 | GLRA1 | c.947C>T (p.Ala316Val) c.*705C>T (n.*705C>T) c.698C>T (p.Ala233Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151829033G>C | CA361851779 | GLRA1 | c.947C>G (p.Ala316Gly) c.*705C>G (n.*705C>G) c.698C>G (p.Ala233Gly) | |
5 | g.151829033G= | CA1591568013 | GLRA1 | c.947C= (p.Ala316=) c.*705C= (n.*705C=) c.698C= (p.Ala233=) | |
5 | g.151829033G>T | CA16618145 | GLRA1 | c.947C>A (p.Ala316Glu) c.*705C>A (n.*705C>A) c.698C>A (p.Ala233Glu) | ClinVar dbSNP |
5 | g.151829034C>A | CA3523566 | GLRA1 | c.946G>T (p.Ala316Ser) c.*704G>T (n.*704G>T) c.697G>T (p.Ala233Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.151829034C= | CA1591568014 | GLRA1 | c.946G= (p.Ala316=) c.*704G= (n.*704G=) c.697G= (p.Ala233=) | |
5 | g.151829034C>G | CA361851785 | GLRA1 | c.946G>C (p.Ala316Pro) c.*704G>C (n.*704G>C) c.697G>C (p.Ala233Pro) | |
5 | g.151829034C>T | CA361851791 | GLRA1 | c.946G>A (p.Ala316Thr) c.*704G>A (n.*704G>A) c.697G>A (p.Ala233Thr) | |
5 | g.151829035C>A | CA361851794 | GLRA1 | c.945G>T (p.Met315Ile) c.*703G>T (n.*703G>T) c.696G>T (p.Met232Ile) | |
5 | g.151829035C>G | CA361851796 | GLRA1 | c.945G>C (p.Met315Ile) c.*703G>C (n.*703G>C) c.696G>C (p.Met232Ile) | |
5 | g.151829035C>T | CA361851799 | GLRA1 | c.945G>A (p.Met315Ile) c.*703G>A (n.*703G>A) c.696G>A (p.Met232Ile) | |
5 | g.151829036A>C | CA361851802 | GLRA1 | c.944T>G (p.Met315Arg) c.*702T>G (n.*702T>G) c.695T>G (p.Met232Arg) | |
5 | g.151829036A>G | CA361851804 | GLRA1 | c.944T>C (p.Met315Thr) c.*702T>C (n.*702T>C) c.695T>C (p.Met232Thr) | |
5 | g.151829036A>T | CA361851805 | GLRA1 | c.944T>A (p.Met315Lys) c.*702T>A (n.*702T>A) c.695T>A (p.Met232Lys) | COSMIC |
5 | g.151829037T>A | CA361851807 | GLRA1 | c.943A>T (p.Met315Leu) c.*701A>T (n.*701A>T) c.694A>T (p.Met232Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.151829037T>C | CA361851808 | GLRA1 | c.943A>G (p.Met315Val) c.*701A>G (n.*701A>G) c.694A>G (p.Met232Val) | gnomAD v4 |
5 | g.151829037T>G | CA361851810 | GLRA1 | c.943A>C (p.Met315Leu) c.*701A>C (n.*701A>C) c.694A>C (p.Met232Leu) | |
5 | g.151829037T= | CA1591568015 | GLRA1 | c.943A= (p.Met315=) c.*701A= (n.*701A=) c.694A= (p.Met232=) | |
5 | g.151829038C>A | CA361851818 | GLRA1 | c.942G>T (p.Trp314Cys) c.*700G>T (n.*700G>T) c.693G>T (p.Trp231Cys) | |
5 | g.151829038C= | CA1591568016 | GLRA1 | c.942G= (p.Trp314=) c.*700G= (n.*700G=) c.693G= (p.Trp231=) | |
5 | g.151829038C>G | CA361851816 | GLRA1 | c.942G>C (p.Trp314Cys) c.*700G>C (n.*700G>C) c.693G>C (p.Trp231Cys) | ClinVar dbSNP gnomAD v4 |
5 | g.151829038C>T | CA130010140 | GLRA1 | c.942G>A (p.Trp314Ter) c.*700G>A (n.*700G>A) c.693G>A (p.Trp231Ter) | ClinVar dbSNP gnomAD v4 |
5 | g.151829039C>A | CA361851821 | GLRA1 | c.941G>T (p.Trp314Leu) c.*699G>T (n.*699G>T) c.692G>T (p.Trp231Leu) | COSMIC |
5 | g.151829039C>G | CA361851826 | GLRA1 | c.941G>C (p.Trp314Ser) c.*699G>C (n.*699G>C) c.692G>C (p.Trp231Ser) | |
5 | g.151829039C>T | CA361851824 | GLRA1 | c.941G>A (p.Trp314Ter) c.*699G>A (n.*699G>A) c.692G>A (p.Trp231Ter) | gnomAD v4 |
5 | g.151829040A>C | CA361851829 | GLRA1 | c.940T>G (p.Trp314Gly) c.*698T>G (n.*698T>G) c.691T>G (p.Trp231Gly) | |
5 | g.151829040A>G | CA361851833 | GLRA1 | c.940T>C (p.Trp314Arg) c.*698T>C (n.*698T>C) c.691T>C (p.Trp231Arg) | |
5 | g.151829040A>T | CA361851830 | GLRA1 | c.940T>A (p.Trp314Arg) c.*698T>A (n.*698T>A) c.691T>A (p.Trp231Arg) | |
5 | g.151829040_151829046delinsAAATGTC | CA1591568017 | GLRA1 | c.934_940delinsGACATTT (p.Asp312=) c.*692_*698delinsGACATTT (n.*692_*698delinsGACATTT) c.685_691delinsGACATTT (p.Asp229=) | |
5 | g.151829041A>C | CA361851835 | GLRA1 | c.939T>G (p.Ile313Met) c.*697T>G (n.*697T>G) c.690T>G (p.Ile230Met) | |
5 | g.151829041A>G | CA447226793 | GLRA1 | c.939T>C (p.Ile313=) c.*697T>C (n.*697T>C) c.690T>C (p.Ile230=) | |
5 | g.151829041A>T | CA447226794 | GLRA1 | c.939T>A (p.Ile313=) c.*697T>A (n.*697T>A) c.690T>A (p.Ile230=) | |
5 | g.151829045_151829050del | CA1591568018 | GLRA1 | c.934_939del (p.Asp312_Ile313del) c.*692_*697del (n.*692_*697del) c.685_690del (p.Asp229_Ile230del) | dbSNP |
5 | g.151829042A>C | CA361851839 | GLRA1 | c.938T>G (p.Ile313Ser) c.*696T>G (n.*696T>G) c.689T>G (p.Ile230Ser) | |
5 | g.151829042A>G | CA361851841 | GLRA1 | c.938T>C (p.Ile313Thr) c.*696T>C (n.*696T>C) c.689T>C (p.Ile230Thr) | |
5 | g.151829042A>T | CA361851843 | GLRA1 | c.938T>A (p.Ile313Asn) c.*696T>A (n.*696T>A) c.689T>A (p.Ile230Asn) | |
5 | g.151829043T>A | CA361851847 | GLRA1 | c.937A>T (p.Ile313Phe) c.*695A>T (n.*695A>T) c.688A>T (p.Ile230Phe) | |
5 | g.151829043T>C | CA361851849 | GLRA1 | c.937A>G (p.Ile313Val) c.*695A>G (n.*695A>G) c.688A>G (p.Ile230Val) | ClinVar dbSNP gnomAD v4 |
5 | g.151829043T>G | CA361851850 | GLRA1 | c.937A>C (p.Ile313Leu) c.*695A>C (n.*695A>C) c.688A>C (p.Ile230Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151829043T= | CA1591568019 | GLRA1 | c.937A= (p.Ile313=) c.*695A= (n.*695A=) c.688A= (p.Ile230=) | |
5 | g.151829044G>A | CA447226795 | GLRA1 | c.936C>T (p.Asp312=) c.*694C>T (n.*694C>T) c.687C>T (p.Asp229=) | ClinVar dbSNP gnomAD v2 |
5 | g.151829044G>C | CA361851851 | GLRA1 | c.936C>G (p.Asp312Glu) c.*694C>G (n.*694C>G) c.687C>G (p.Asp229Glu) | |
5 | g.151829044G= | CA1591568020 | GLRA1 | c.936C= (p.Asp312=) c.*694C= (n.*694C=) c.687C= (p.Asp229=) | |
5 | g.151829044G>T | CA361851854 | GLRA1 | c.936C>A (p.Asp312Glu) c.*694C>A (n.*694C>A) c.687C>A (p.Asp229Glu) | |
5 | g.151829045T>A | CA361851856 | GLRA1 | c.935A>T (p.Asp312Val) c.*693A>T (n.*693A>T) c.686A>T (p.Asp229Val) | |
5 | g.151829045T>C | CA361851857 | GLRA1 | c.935A>G (p.Asp312Gly) c.*693A>G (n.*693A>G) c.686A>G (p.Asp229Gly) | gnomAD v4 COSMIC |
5 | g.151829045T>G | CA361851858 | GLRA1 | c.935A>C (p.Asp312Ala) c.*693A>C (n.*693A>C) c.686A>C (p.Asp229Ala) | |
5 | g.151829045_151829046del | CA2676108907 | GLRA1 | c.934_935del (p.Asp312HisfsTer21) c.*692_*693del (n.*692_*693del) c.685_686del (p.Asp229HisfsTer21) | gnomAD v4 |
5 | g.151829046C>A | CA361851867 | GLRA1 | c.934G>T (p.Asp312Tyr) c.*692G>T (n.*692G>T) c.685G>T (p.Asp229Tyr) | gnomAD v4 |
5 | g.151829046C= | CA1591568021 | GLRA1 | c.934G= (p.Asp312=) c.*692G= (n.*692G=) c.685G= (p.Asp229=) | |
5 | g.151829046C>G | CA361851863 | GLRA1 | c.934G>C (p.Asp312His) c.*692G>C (n.*692G>C) c.685G>C (p.Asp229His) | dbSNP |
5 | g.151829046C>T | CA361851865 | GLRA1 | c.934G>A (p.Asp312Asn) c.*692G>A (n.*692G>A) c.685G>A (p.Asp229Asn) | |
5 | g.151829047A>C | CA361851870 | GLRA1 | c.933T>G (p.Ile311Met) c.*691T>G (n.*691T>G) c.684T>G (p.Ile228Met) | gnomAD v4 |
5 | g.151829047A>G | CA447226796 | GLRA1 | c.933T>C (p.Ile311=) c.*691T>C (n.*691T>C) c.684T>C (p.Ile228=) | |
5 | g.151829047A>T | CA447226797 | GLRA1 | c.933T>A (p.Ile311=) c.*691T>A (n.*691T>A) c.684T>A (p.Ile228=) | |
5 | g.151829048A= | CA1591568022 | GLRA1 | c.932T= (p.Ile311=) c.*690T= (n.*690T=) c.683T= (p.Ile228=) | |
5 | g.151829048A>C | CA361851873 | GLRA1 | c.932T>G (p.Ile311Ser) c.*690T>G (n.*690T>G) c.683T>G (p.Ile228Ser) | |
5 | g.151829048A>G | CA361851874 | GLRA1 | c.932T>C (p.Ile311Thr) c.*690T>C (n.*690T>C) c.683T>C (p.Ile228Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151829048A>T | CA361851875 | GLRA1 | c.932T>A (p.Ile311Asn) c.*690T>A (n.*690T>A) c.683T>A (p.Ile228Asn) | gnomAD v4 |
5 | g.151829049T>A | CA361851877 | GLRA1 | c.931A>T (p.Ile311Phe) c.*689A>T (n.*689A>T) c.682A>T (p.Ile228Phe) | |
5 | g.151829049T>C | CA361851879 | GLRA1 | c.931A>G (p.Ile311Val) c.*689A>G (n.*689A>G) c.682A>G (p.Ile228Val) | |
5 | g.151829049T>G | CA361851881 | GLRA1 | c.931A>C (p.Ile311Leu) c.*689A>C (n.*689A>C) c.682A>C (p.Ile228Leu) | |
5 | g.151829050G>A | CA447226798 | GLRA1 | c.930C>T (p.Ala310=) c.*688C>T (n.*688C>T) c.681C>T (p.Ala227=) | |
5 | g.151829050G>C | CA447226799 | GLRA1 | c.930C>G (p.Ala310=) c.*688C>G (n.*688C>G) c.681C>G (p.Ala227=) | |
5 | g.151829050G>T | CA447226800 | GLRA1 | c.930C>A (p.Ala310=) c.*688C>A (n.*688C>A) c.681C>A (p.Ala227=) | |
5 | g.151829051dup | CA2676108924 | GLRA1 | c.930dup (p.Ile311HisfsTer2) c.*688dup (n.*688dup) c.681dup (p.Ile228HisfsTer2) | gnomAD v4 |
5 | g.151829051G>A | CA361851884 | GLRA1 | c.929C>T (p.Ala310Val) c.*687C>T (n.*687C>T) c.680C>T (p.Ala227Val) | COSMIC |
5 | g.151829051G>C | CA361851886 | GLRA1 | c.929C>G (p.Ala310Gly) c.*687C>G (n.*687C>G) c.680C>G (p.Ala227Gly) | |
5 | g.151829051G>T | CA361851888 | GLRA1 | c.929C>A (p.Ala310Asp) c.*687C>A (n.*687C>A) c.680C>A (p.Ala227Asp) | |
5 | g.151829051_151829058delinsGCTTTCAC | CA1591568023 | GLRA1 | c.922_929delinsGTGAAAGC (p.Val308=) c.*680_*687delinsGTGAAAGC (n.*680_*687delinsGTGAAAGC) c.673_680delinsGTGAAAGC (p.Val225=) | |
5 | g.151829052del | CA2676108926 | GLRA1 | c.928del (p.Ala310ProfsTer18) c.*686del (n.*686del) c.679del (p.Ala227ProfsTer18) | gnomAD v4 |
5 | g.151829052C>A | CA361851896 | GLRA1 | c.928G>T (p.Ala310Ser) c.*686G>T (n.*686G>T) c.679G>T (p.Ala227Ser) | |
5 | g.151829052C>G | CA361851898 | GLRA1 | c.928G>C (p.Ala310Pro) c.*686G>C (n.*686G>C) c.679G>C (p.Ala227Pro) | |
5 | g.151829052C>T | CA361851894 | GLRA1 | c.928G>A (p.Ala310Thr) c.*686G>A (n.*686G>A) c.679G>A (p.Ala227Thr) | |
5 | g.151829052_151829058del | CA3523567 | GLRA1 | c.922_928del (p.Val308ProfsTer18) c.*680_*686del (n.*680_*686del) c.673_679del (p.Val225ProfsTer18) | dbSNP ExAC gnomAD v2 |
5 | g.151829053T>A | CA361851899 | GLRA1 | c.927A>T (p.Lys309Asn) c.*685A>T (n.*685A>T) c.678A>T (p.Lys226Asn) | |
5 | g.151829053T>C | CA447226801 | GLRA1 | c.927A>G (p.Lys309=) c.*685A>G (n.*685A>G) c.678A>G (p.Lys226=) | gnomAD v4 |
5 | g.151829053T>G | CA361851900 | GLRA1 | c.927A>C (p.Lys309Asn) c.*685A>C (n.*685A>C) c.678A>C (p.Lys226Asn) | |
5 | g.151829054T>A | CA361851903 | GLRA1 | c.926A>T (p.Lys309Ile) c.*684A>T (n.*684A>T) c.677A>T (p.Lys226Ile) | |
5 | g.151829054T>C | CA361851905 | GLRA1 | c.926A>G (p.Lys309Arg) c.*684A>G (n.*684A>G) c.677A>G (p.Lys226Arg) | |
5 | g.151829054T>G | CA361851907 | GLRA1 | c.926A>C (p.Lys309Thr) c.*684A>C (n.*684A>C) c.677A>C (p.Lys226Thr) | |
5 | g.151829055T>A | CA361851908 | GLRA1 | c.925A>T (p.Lys309Ter) c.*683A>T (n.*683A>T) c.676A>T (p.Lys226Ter) | |
5 | g.151829055T>C | CA361851910 | GLRA1 | c.925A>G (p.Lys309Glu) c.*683A>G (n.*683A>G) c.676A>G (p.Lys226Glu) | COSMIC |
5 | g.151829055T>G | CA361851912 | GLRA1 | c.925A>C (p.Lys309Gln) c.*683A>C (n.*683A>C) c.676A>C (p.Lys226Gln) | |
5 | g.151829056C>A | CA447226802 | GLRA1 | c.924G>T (p.Val308=) c.*682G>T (n.*682G>T) c.675G>T (p.Val225=) | |
5 | g.151829056C>G | CA447226803 | GLRA1 | c.924G>C (p.Val308=) c.*682G>C (n.*682G>C) c.675G>C (p.Val225=) | |
5 | g.151829056C>T | CA447226804 | GLRA1 | c.924G>A (p.Val308=) c.*682G>A (n.*682G>A) c.675G>A (p.Val225=) | |
5 | g.151829057A>C | CA361851914 | GLRA1 | c.923T>G (p.Val308Gly) c.*681T>G (n.*681T>G) c.674T>G (p.Val225Gly) | |
5 | g.151829057A>G | CA361851916 | GLRA1 | c.923T>C (p.Val308Ala) c.*681T>C (n.*681T>C) c.674T>C (p.Val225Ala) | |
5 | g.151829057A>T | CA361851918 | GLRA1 | c.923T>A (p.Val308Glu) c.*681T>A (n.*681T>A) c.674T>A (p.Val225Glu) | |
5 | g.151829058C>A | CA361851923 | GLRA1 | c.922G>T (p.Val308Leu) c.*680G>T (n.*680G>T) c.673G>T (p.Val225Leu) | |
5 | g.151829058C>G | CA361851925 | GLRA1 | c.922G>C (p.Val308Leu) c.*680G>C (n.*680G>C) c.673G>C (p.Val225Leu) | |
5 | g.151829058C>T | CA361851921 | GLRA1 | c.922G>A (p.Val308Met) c.*680G>A (n.*680G>A) c.673G>A (p.Val225Met) | |
5 | g.151829058_151829059delinsCA | CA1591568024 | GLRA1 | c.921_922delinsTG (p.Tyr307=) c.*679_*680delinsTG (n.*679_*680delinsTG) c.672_673delinsTG (p.Tyr224=) | |
5 | g.151829059del | CA342965 | GLRA1 | c.921del (p.Tyr307Ter) c.*679del (n.*679del) c.672del (p.Tyr224Ter) | ClinVar dbSNP |
5 | g.151829059A>C | CA361851928 | GLRA1 | c.921T>G (p.Tyr307Ter) c.*679T>G (n.*679T>G) c.672T>G (p.Tyr224Ter) | |
5 | g.151829059A>G | CA447226805 | GLRA1 | c.921T>C (p.Tyr307=) c.*679T>C (n.*679T>C) c.672T>C (p.Tyr224=) | |
5 | g.151829059A>T | CA361851930 | GLRA1 | c.921T>A (p.Tyr307Ter) c.*679T>A (n.*679T>A) c.672T>A (p.Tyr224Ter) | |
5 | g.151829059dup | CA2573335079 | GLRA1 | c.921dup (p.Val308CysfsTer5) c.*679dup (n.*679dup) c.672dup (p.Val225CysfsTer5) | ClinVar |