Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33446583_33446584delinsGT | CA1620016801 | SYNGAP1,SYNGAP1-AS1 | c.3333_3334delinsGT (p.Glu1111=) c.3591_3592delinsGT (p.Glu1197=) c.3543_3544delinsGT (p.Glu1181=) c.3414_3415delinsGT (p.Glu1138=) c.3546_3547delinsGT (p.Glu1182=) n.329+22_329+23delinsAC | |
6 | g.33446584del | CA207942 | SYNGAP1,SYNGAP1-AS1 | c.3334del (p.Tyr1112ThrfsTer8) c.3592del (p.Tyr1198ThrfsTer8) c.3544del (p.Tyr1182ThrfsTer8) c.3415del (p.Tyr1139ThrfsTer8) c.3547del (p.Tyr1183ThrfsTer8) n.329+22del | ClinVar dbSNP |
6 | g.33446584T>A | CA363636818 | SYNGAP1,SYNGAP1-AS1 | c.3334T>A (p.Tyr1112Asn) c.3592T>A (p.Tyr1198Asn) c.3544T>A (p.Tyr1182Asn) c.3415T>A (p.Tyr1139Asn) c.3547T>A (p.Tyr1183Asn) n.329+22A>T | |
6 | g.33446584T>C | CA363636819 | SYNGAP1,SYNGAP1-AS1 | c.3334T>C (p.Tyr1112His) c.3592T>C (p.Tyr1198His) c.3544T>C (p.Tyr1182His) c.3415T>C (p.Tyr1139His) c.3547T>C (p.Tyr1183His) n.329+22A>G | |
6 | g.33446584T>G | CA363636820 | SYNGAP1,SYNGAP1-AS1 | c.3334T>G (p.Tyr1112Asp) c.3592T>G (p.Tyr1198Asp) c.3544T>G (p.Tyr1182Asp) c.3415T>G (p.Tyr1139Asp) c.3547T>G (p.Tyr1183Asp) n.329+22A>C | |
6 | g.33446585A>C | CA363636826 | SYNGAP1,SYNGAP1-AS1 | c.3335A>C (p.Tyr1112Ser) c.3593A>C (p.Tyr1198Ser) c.3545A>C (p.Tyr1182Ser) c.3416A>C (p.Tyr1139Ser) c.3548A>C (p.Tyr1183Ser) n.329+21T>G | |
6 | g.33446585A>G | CA363636823 | SYNGAP1,SYNGAP1-AS1 | c.3335A>G (p.Tyr1112Cys) c.3593A>G (p.Tyr1198Cys) c.3545A>G (p.Tyr1182Cys) c.3416A>G (p.Tyr1139Cys) c.3548A>G (p.Tyr1183Cys) n.329+21T>C | |
6 | g.33446585A>T | CA363636825 | SYNGAP1,SYNGAP1-AS1 | c.3335A>T (p.Tyr1112Phe) c.3593A>T (p.Tyr1198Phe) c.3545A>T (p.Tyr1182Phe) c.3416A>T (p.Tyr1139Phe) c.3548A>T (p.Tyr1183Phe) n.329+21T>A | |
6 | g.33446586C>A | CA363636830 | SYNGAP1,SYNGAP1-AS1 | c.3336C>A (p.Tyr1112Ter) c.3594C>A (p.Tyr1198Ter) c.3546C>A (p.Tyr1182Ter) c.3417C>A (p.Tyr1139Ter) c.3549C>A (p.Tyr1183Ter) n.329+20G>T | |
6 | g.33446586C= | CA1620016809 | SYNGAP1,SYNGAP1-AS1 | c.3336C= (p.Tyr1112=) c.3594C= (p.Tyr1198=) c.3546C= (p.Tyr1182=) c.3417C= (p.Tyr1139=) c.3549C= (p.Tyr1183=) n.329+20G= | |
6 | g.33446586C>G | CA363636833 | SYNGAP1,SYNGAP1-AS1 | c.3336C>G (p.Tyr1112Ter) c.3594C>G (p.Tyr1198Ter) c.3546C>G (p.Tyr1182Ter) c.3417C>G (p.Tyr1139Ter) c.3549C>G (p.Tyr1183Ter) n.329+20G>C | ClinVar dbSNP |
6 | g.33446586C>T | CA137075350 | SYNGAP1,SYNGAP1-AS1 | c.3336C>T (p.Tyr1112=) c.3594C>T (p.Tyr1198=) c.3546C>T (p.Tyr1182=) c.3417C>T (p.Tyr1139=) c.3549C>T (p.Tyr1183=) n.329+20G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446587G>A | CA3759077 | SYNGAP1,SYNGAP1-AS1 | c.3337G>A (p.Glu1113Lys) c.3595G>A (p.Glu1199Lys) c.3547G>A (p.Glu1183Lys) c.3418G>A (p.Glu1140Lys) c.3550G>A (p.Glu1184Lys) n.329+19C>T | ClinVar dbSNP ExAC gnomAD v4 |
6 | g.33446587G>C | CA363636838 | SYNGAP1,SYNGAP1-AS1 | c.3337G>C (p.Glu1113Gln) c.3595G>C (p.Glu1199Gln) c.3547G>C (p.Glu1183Gln) c.3418G>C (p.Glu1140Gln) c.3550G>C (p.Glu1184Gln) n.329+19C>G | |
6 | g.33446587G= | CA1620016812 | SYNGAP1,SYNGAP1-AS1 | c.3337G= (p.Glu1113=) c.3595G= (p.Glu1199=) c.3547G= (p.Glu1183=) c.3418G= (p.Glu1140=) c.3550G= (p.Glu1184=) n.329+19C= | |
6 | g.33446587G>T | CA363636840 | SYNGAP1,SYNGAP1-AS1 | c.3337G>T (p.Glu1113Ter) c.3595G>T (p.Glu1199Ter) c.3547G>T (p.Glu1183Ter) c.3418G>T (p.Glu1140Ter) c.3550G>T (p.Glu1184Ter) n.329+19C>A | dbSNP |
6 | g.33446588A>C | CA363636844 | SYNGAP1,SYNGAP1-AS1 | c.3338A>C (p.Glu1113Ala) c.3596A>C (p.Glu1199Ala) c.3548A>C (p.Glu1183Ala) c.3419A>C (p.Glu1140Ala) c.3551A>C (p.Glu1184Ala) n.329+18T>G | |
6 | g.33446588A>G | CA363636847 | SYNGAP1,SYNGAP1-AS1 | c.3338A>G (p.Glu1113Gly) c.3596A>G (p.Glu1199Gly) c.3548A>G (p.Glu1183Gly) c.3419A>G (p.Glu1140Gly) c.3551A>G (p.Glu1184Gly) n.329+18T>C | |
6 | g.33446588A>T | CA363636848 | SYNGAP1,SYNGAP1-AS1 | c.3338A>T (p.Glu1113Val) c.3596A>T (p.Glu1199Val) c.3548A>T (p.Glu1183Val) c.3419A>T (p.Glu1140Val) c.3551A>T (p.Glu1184Val) n.329+18T>A | |
6 | g.33446589G>A | CA449839613 | SYNGAP1,SYNGAP1-AS1 | c.3339G>A (p.Glu1113=) c.3597G>A (p.Glu1199=) c.3549G>A (p.Glu1183=) c.3420G>A (p.Glu1140=) c.3552G>A (p.Glu1184=) n.329+17C>T | |
6 | g.33446589G>C | CA363636849 | SYNGAP1,SYNGAP1-AS1 | c.3339G>C (p.Glu1113Asp) c.3597G>C (p.Glu1199Asp) c.3549G>C (p.Glu1183Asp) c.3420G>C (p.Glu1140Asp) c.3552G>C (p.Glu1184Asp) n.329+17C>G | |
6 | g.33446589G>T | CA363636850 | SYNGAP1,SYNGAP1-AS1 | c.3339G>T (p.Glu1113Asp) c.3597G>T (p.Glu1199Asp) c.3549G>T (p.Glu1183Asp) c.3420G>T (p.Glu1140Asp) c.3552G>T (p.Glu1184Asp) n.329+17C>A | |
6 | g.33446590G>A | CA363636854 | SYNGAP1,SYNGAP1-AS1 | c.3340G>A (p.Glu1114Lys) c.3598G>A (p.Glu1200Lys) c.3550G>A (p.Glu1184Lys) c.3421G>A (p.Glu1141Lys) c.3553G>A (p.Glu1185Lys) n.329+16C>T | |
6 | g.33446590G>C | CA363636852 | SYNGAP1,SYNGAP1-AS1 | c.3340G>C (p.Glu1114Gln) c.3598G>C (p.Glu1200Gln) c.3550G>C (p.Glu1184Gln) c.3421G>C (p.Glu1141Gln) c.3553G>C (p.Glu1185Gln) n.329+16C>G | |
6 | g.33446590G= | CA1620016815 | SYNGAP1,SYNGAP1-AS1 | c.3340G= (p.Glu1114=) c.3598G= (p.Glu1200=) c.3550G= (p.Glu1184=) c.3421G= (p.Glu1141=) c.3553G= (p.Glu1185=) n.329+16C= | |
6 | g.33446590G>T | CA363636851 | SYNGAP1,SYNGAP1-AS1 | c.3340G>T (p.Glu1114Ter) c.3598G>T (p.Glu1200Ter) c.3550G>T (p.Glu1184Ter) c.3421G>T (p.Glu1141Ter) c.3553G>T (p.Glu1185Ter) n.329+16C>A | dbSNP |
6 | g.33446591A>C | CA363636855 | SYNGAP1,SYNGAP1-AS1 | c.3341A>C (p.Glu1114Ala) c.3599A>C (p.Glu1200Ala) c.3551A>C (p.Glu1184Ala) c.3422A>C (p.Glu1141Ala) c.3554A>C (p.Glu1185Ala) n.329+15T>G | |
6 | g.33446591A>G | CA363636858 | SYNGAP1,SYNGAP1-AS1 | c.3341A>G (p.Glu1114Gly) c.3599A>G (p.Glu1200Gly) c.3551A>G (p.Glu1184Gly) c.3422A>G (p.Glu1141Gly) c.3554A>G (p.Glu1185Gly) n.329+15T>C | |
6 | g.33446591A>T | CA363636859 | SYNGAP1,SYNGAP1-AS1 | c.3341A>T (p.Glu1114Val) c.3599A>T (p.Glu1200Val) c.3551A>T (p.Glu1184Val) c.3422A>T (p.Glu1141Val) c.3554A>T (p.Glu1185Val) n.329+15T>A | |
6 | g.33446591dup | CA915944227 | SYNGAP1,SYNGAP1-AS1 | c.3341dup (p.Glu1115GlyfsTer20) c.3599dup (p.Glu1201GlyfsTer20) c.3551dup (p.Glu1185GlyfsTer20) c.3422dup (p.Glu1142GlyfsTer20) c.3554dup (p.Glu1186GlyfsTer20) n.329+15dup | ClinVar dbSNP |
6 | g.33446592G>A | CA449839614 | SYNGAP1,SYNGAP1-AS1 | c.3342G>A (p.Glu1114=) c.3600G>A (p.Glu1200=) c.3552G>A (p.Glu1184=) c.3423G>A (p.Glu1141=) c.3555G>A (p.Glu1185=) n.329+14C>T | |
6 | g.33446592G>C | CA363636862 | SYNGAP1,SYNGAP1-AS1 | c.3342G>C (p.Glu1114Asp) c.3600G>C (p.Glu1200Asp) c.3552G>C (p.Glu1184Asp) c.3423G>C (p.Glu1141Asp) c.3555G>C (p.Glu1185Asp) n.329+14C>G | |
6 | g.33446592G>T | CA363636863 | SYNGAP1,SYNGAP1-AS1 | c.3342G>T (p.Glu1114Asp) c.3600G>T (p.Glu1200Asp) c.3552G>T (p.Glu1184Asp) c.3423G>T (p.Glu1141Asp) c.3555G>T (p.Glu1185Asp) n.329+14C>A | |
6 | g.33446593G>A | CA363636868 | SYNGAP1,SYNGAP1-AS1 | c.3343G>A (p.Glu1115Lys) c.3601G>A (p.Glu1201Lys) c.3553G>A (p.Glu1185Lys) c.3424G>A (p.Glu1142Lys) c.3556G>A (p.Glu1186Lys) n.329+13C>T | |
6 | g.33446593G>C | CA363636871 | SYNGAP1,SYNGAP1-AS1 | c.3343G>C (p.Glu1115Gln) c.3601G>C (p.Glu1201Gln) c.3553G>C (p.Glu1185Gln) c.3424G>C (p.Glu1142Gln) c.3556G>C (p.Glu1186Gln) n.329+13C>G | |
6 | g.33446593G= | CA1620016821 | SYNGAP1,SYNGAP1-AS1 | c.3343G= (p.Glu1115=) c.3601G= (p.Glu1201=) c.3553G= (p.Glu1185=) c.3424G= (p.Glu1142=) c.3556G= (p.Glu1186=) n.329+13C= | |
6 | g.33446593G>T | CA363636872 | SYNGAP1,SYNGAP1-AS1 | c.3343G>T (p.Glu1115Ter) c.3601G>T (p.Glu1201Ter) c.3553G>T (p.Glu1185Ter) c.3424G>T (p.Glu1142Ter) c.3556G>T (p.Glu1186Ter) n.329+13C>A | dbSNP |
6 | g.33446594A>C | CA363636874 | SYNGAP1,SYNGAP1-AS1 | c.3344A>C (p.Glu1115Ala) c.3602A>C (p.Glu1201Ala) c.3554A>C (p.Glu1185Ala) c.3425A>C (p.Glu1142Ala) c.3557A>C (p.Glu1186Ala) n.329+12T>G | |
6 | g.33446594A>G | CA363636875 | SYNGAP1,SYNGAP1-AS1 | c.3344A>G (p.Glu1115Gly) c.3602A>G (p.Glu1201Gly) c.3554A>G (p.Glu1185Gly) c.3425A>G (p.Glu1142Gly) c.3557A>G (p.Glu1186Gly) n.329+12T>C | |
6 | g.33446594A>T | CA363636878 | SYNGAP1,SYNGAP1-AS1 | c.3344A>T (p.Glu1115Val) c.3602A>T (p.Glu1201Val) c.3554A>T (p.Glu1185Val) c.3425A>T (p.Glu1142Val) c.3557A>T (p.Glu1186Val) n.329+12T>A | |
6 | g.33446595G>A | CA3759078 | SYNGAP1,SYNGAP1-AS1 | c.3345G>A (p.Glu1115=) c.3603G>A (p.Glu1201=) c.3555G>A (p.Glu1185=) c.3426G>A (p.Glu1142=) c.3558G>A (p.Glu1186=) n.329+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33446595G>C | CA363636882 | SYNGAP1,SYNGAP1-AS1 | c.3345G>C (p.Glu1115Asp) c.3603G>C (p.Glu1201Asp) c.3555G>C (p.Glu1185Asp) c.3426G>C (p.Glu1142Asp) c.3558G>C (p.Glu1186Asp) n.329+11C>G | |
6 | g.33446595G= | CA1620016825 | SYNGAP1,SYNGAP1-AS1 | c.3345G= (p.Glu1115=) c.3603G= (p.Glu1201=) c.3555G= (p.Glu1185=) c.3426G= (p.Glu1142=) c.3558G= (p.Glu1186=) n.329+11C= | |
6 | g.33446595G>T | CA363636880 | SYNGAP1,SYNGAP1-AS1 | c.3345G>T (p.Glu1115Asp) c.3603G>T (p.Glu1201Asp) c.3555G>T (p.Glu1185Asp) c.3426G>T (p.Glu1142Asp) c.3558G>T (p.Glu1186Asp) n.329+11C>A | |
6 | g.33446596A>C | CA363636888 | SYNGAP1,SYNGAP1-AS1 | c.3346A>C (p.Ile1116Leu) c.3604A>C (p.Ile1202Leu) c.3556A>C (p.Ile1186Leu) c.3427A>C (p.Ile1143Leu) c.3559A>C (p.Ile1187Leu) n.329+10T>G | |
6 | g.33446596A>G | CA363636889 | SYNGAP1,SYNGAP1-AS1 | c.3346A>G (p.Ile1116Val) c.3604A>G (p.Ile1202Val) c.3556A>G (p.Ile1186Val) c.3427A>G (p.Ile1143Val) c.3559A>G (p.Ile1187Val) n.329+10T>C | |
6 | g.33446596A>T | CA363636892 | SYNGAP1,SYNGAP1-AS1 | c.3346A>T (p.Ile1116Phe) c.3604A>T (p.Ile1202Phe) c.3556A>T (p.Ile1186Phe) c.3427A>T (p.Ile1143Phe) c.3559A>T (p.Ile1187Phe) n.329+10T>A | |
6 | g.33446596_33446597delinsAT | CA1620016828 | SYNGAP1,SYNGAP1-AS1 | c.3346_3347delinsAT (p.Ile1116=) c.3604_3605delinsAT (p.Ile1202=) c.3556_3557delinsAT (p.Ile1186=) c.3427_3428delinsAT (p.Ile1143=) c.3559_3560delinsAT (p.Ile1187=) n.329+9_329+10delinsAT | |
6 | g.33446597T>A | CA363636894 | SYNGAP1,SYNGAP1-AS1 | c.3347T>A (p.Ile1116Asn) c.3605T>A (p.Ile1202Asn) c.3557T>A (p.Ile1186Asn) c.3428T>A (p.Ile1143Asn) c.3560T>A (p.Ile1187Asn) n.329+9A>T | |
6 | g.33446597T>C | CA363636896 | SYNGAP1,SYNGAP1-AS1 | c.3347T>C (p.Ile1116Thr) c.3605T>C (p.Ile1202Thr) c.3557T>C (p.Ile1186Thr) c.3428T>C (p.Ile1143Thr) c.3560T>C (p.Ile1187Thr) n.329+9A>G | |
6 | g.33446597T>G | CA363636897 | SYNGAP1,SYNGAP1-AS1 | c.3347T>G (p.Ile1116Ser) c.3605T>G (p.Ile1202Ser) c.3557T>G (p.Ile1186Ser) c.3428T>G (p.Ile1143Ser) c.3560T>G (p.Ile1187Ser) n.329+9A>C | |
6 | g.33446598del | CA1139659353 | SYNGAP1,SYNGAP1-AS1 | c.3348del (p.His1117ThrfsTer3) c.3606del (p.His1203ThrfsTer3) c.3558del (p.His1187ThrfsTer3) c.3429del (p.His1144ThrfsTer3) c.3561del (p.His1188ThrfsTer3) n.329+9del | ClinVar dbSNP |
6 | g.33446598T>A | CA449839615 | SYNGAP1,SYNGAP1-AS1 | c.3348T>A (p.Ile1116=) c.3606T>A (p.Ile1202=) c.3558T>A (p.Ile1186=) c.3429T>A (p.Ile1143=) c.3561T>A (p.Ile1187=) n.329+8A>T | |
6 | g.33446598T>C | CA449839616 | SYNGAP1,SYNGAP1-AS1 | c.3348T>C (p.Ile1116=) c.3606T>C (p.Ile1202=) c.3558T>C (p.Ile1186=) c.3429T>C (p.Ile1143=) c.3561T>C (p.Ile1187=) n.329+8A>G | |
6 | g.33446598T>G | CA363636898 | SYNGAP1,SYNGAP1-AS1 | c.3348T>G (p.Ile1116Met) c.3606T>G (p.Ile1202Met) c.3558T>G (p.Ile1186Met) c.3429T>G (p.Ile1143Met) c.3561T>G (p.Ile1187Met) n.329+8A>C | |
6 | g.33446599C>A | CA363636901 | SYNGAP1,SYNGAP1-AS1 | c.3349C>A (p.His1117Asn) c.3607C>A (p.His1203Asn) c.3559C>A (p.His1187Asn) c.3430C>A (p.His1144Asn) c.3562C>A (p.His1188Asn) n.329+7G>T | |
6 | g.33446599C= | CA1620016837 | SYNGAP1,SYNGAP1-AS1 | c.3349C= (p.His1117=) c.3607C= (p.His1203=) c.3559C= (p.His1187=) c.3430C= (p.His1144=) c.3562C= (p.His1188=) n.329+7G= | |
6 | g.33446599C>G | CA363636904 | SYNGAP1,SYNGAP1-AS1 | c.3349C>G (p.His1117Asp) c.3607C>G (p.His1203Asp) c.3559C>G (p.His1187Asp) c.3430C>G (p.His1144Asp) c.3562C>G (p.His1188Asp) n.329+7G>C | ClinVar dbSNP |
6 | g.33446599C>T | CA363636906 | SYNGAP1,SYNGAP1-AS1 | c.3349C>T (p.His1117Tyr) c.3607C>T (p.His1203Tyr) c.3559C>T (p.His1187Tyr) c.3430C>T (p.His1144Tyr) c.3562C>T (p.His1188Tyr) n.329+7G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33446600A>C | CA363636909 | SYNGAP1,SYNGAP1-AS1 | c.3350A>C (p.His1117Pro) c.3608A>C (p.His1203Pro) c.3560A>C (p.His1187Pro) c.3431A>C (p.His1144Pro) c.3563A>C (p.His1188Pro) n.329+6T>G | |
6 | g.33446600A>G | CA363636910 | SYNGAP1,SYNGAP1-AS1 | c.3350A>G (p.His1117Arg) c.3608A>G (p.His1203Arg) c.3560A>G (p.His1187Arg) c.3431A>G (p.His1144Arg) c.3563A>G (p.His1188Arg) n.329+6T>C | |
6 | g.33446600A>T | CA363636912 | SYNGAP1,SYNGAP1-AS1 | c.3350A>T (p.His1117Leu) c.3608A>T (p.His1203Leu) c.3560A>T (p.His1187Leu) c.3431A>T (p.His1144Leu) c.3563A>T (p.His1188Leu) n.329+6T>A | |
6 | g.33446601C>A | CA363636917 | SYNGAP1,SYNGAP1-AS1 | c.3351C>A (p.His1117Gln) c.3609C>A (p.His1203Gln) c.3561C>A (p.His1187Gln) c.3432C>A (p.His1144Gln) c.3564C>A (p.His1188Gln) n.329+5G>T | |
6 | g.33446601C>G | CA363636914 | SYNGAP1,SYNGAP1-AS1 | c.3351C>G (p.His1117Gln) c.3609C>G (p.His1203Gln) c.3561C>G (p.His1187Gln) c.3432C>G (p.His1144Gln) c.3564C>G (p.His1188Gln) n.329+5G>C | |
6 | g.33446601C>T | CA449839617 | SYNGAP1,SYNGAP1-AS1 | c.3351C>T (p.His1117=) c.3609C>T (p.His1203=) c.3561C>T (p.His1187=) c.3432C>T (p.His1144=) c.3564C>T (p.His1188=) n.329+5G>A | gnomAD v4 |
6 | g.33446602T>A | CA363636921 | SYNGAP1,SYNGAP1-AS1 | c.3352T>A (p.Ser1118Thr) c.3610T>A (p.Ser1204Thr) c.3562T>A (p.Ser1188Thr) c.3433T>A (p.Ser1145Thr) c.3565T>A (p.Ser1189Thr) n.329+4A>T | |
6 | g.33446602T>C | CA363636926 | SYNGAP1,SYNGAP1-AS1 | c.3352T>C (p.Ser1118Pro) c.3610T>C (p.Ser1204Pro) c.3562T>C (p.Ser1188Pro) c.3433T>C (p.Ser1145Pro) c.3565T>C (p.Ser1189Pro) n.329+4A>G | |
6 | g.33446602T>G | CA363636924 | SYNGAP1,SYNGAP1-AS1 | c.3352T>G (p.Ser1118Ala) c.3610T>G (p.Ser1204Ala) c.3562T>G (p.Ser1188Ala) c.3433T>G (p.Ser1145Ala) c.3565T>G (p.Ser1189Ala) n.329+4A>C | |
6 | g.33446603C>A | CA363636929 | SYNGAP1,SYNGAP1-AS1 | c.3353C>A (p.Ser1118Ter) c.3611C>A (p.Ser1204Ter) c.3563C>A (p.Ser1188Ter) c.3434C>A (p.Ser1145Ter) c.3566C>A (p.Ser1189Ter) n.329+3G>T | |
6 | g.33446603C>G | CA363636932 | SYNGAP1,SYNGAP1-AS1 | c.3353C>G (p.Ser1118Ter) c.3611C>G (p.Ser1204Ter) c.3563C>G (p.Ser1188Ter) c.3434C>G (p.Ser1145Ter) c.3566C>G (p.Ser1189Ter) n.329+3G>C | |
6 | g.33446603C>T | CA363636934 | SYNGAP1,SYNGAP1-AS1 | c.3353C>T (p.Ser1118Leu) c.3611C>T (p.Ser1204Leu) c.3563C>T (p.Ser1188Leu) c.3434C>T (p.Ser1145Leu) c.3566C>T (p.Ser1189Leu) n.329+3G>A | gnomAD v4 |
6 | g.33446604A>C | CA449839618 | SYNGAP1,SYNGAP1-AS1 | c.3354A>C (p.Ser1118=) c.3612A>C (p.Ser1204=) c.3564A>C (p.Ser1188=) c.3435A>C (p.Ser1145=) c.3567A>C (p.Ser1189=) n.329+2T>G | |
6 | g.33446604A>G | CA449839619 | SYNGAP1,SYNGAP1-AS1 | c.3354A>G (p.Ser1118=) c.3612A>G (p.Ser1204=) c.3564A>G (p.Ser1188=) c.3435A>G (p.Ser1145=) c.3567A>G (p.Ser1189=) n.329+2T>C | |
6 | g.33446604A>T | CA449839620 | SYNGAP1,SYNGAP1-AS1 | c.3354A>T (p.Ser1118=) c.3612A>T (p.Ser1204=) c.3564A>T (p.Ser1188=) c.3435A>T (p.Ser1145=) c.3567A>T (p.Ser1189=) n.329+2T>A | |
6 | g.33446605C>A | CA363636935 | SYNGAP1,SYNGAP1-AS1 | c.3355C>A (p.Leu1119Met) c.3613C>A (p.Leu1205Met) c.3565C>A (p.Leu1189Met) c.3436C>A (p.Leu1146Met) c.3568C>A (p.Leu1190Met) n.329+1G>T | |
6 | g.33446605C>G | CA363636937 | SYNGAP1,SYNGAP1-AS1 | c.3355C>G (p.Leu1119Val) c.3613C>G (p.Leu1205Val) c.3565C>G (p.Leu1189Val) c.3436C>G (p.Leu1146Val) c.3568C>G (p.Leu1190Val) n.329+1G>C | |
6 | g.33446605C>T | CA449839621 | SYNGAP1,SYNGAP1-AS1 | c.3355C>T (p.Leu1119=) c.3613C>T (p.Leu1205=) c.3565C>T (p.Leu1189=) c.3436C>T (p.Leu1146=) c.3568C>T (p.Leu1190=) n.329+1G>A | |
6 | g.33446606T>A | CA363636939 | SYNGAP1,SYNGAP1-AS1 | c.3356T>A (p.Leu1119Gln) c.3614T>A (p.Leu1205Gln) c.3566T>A (p.Leu1189Gln) c.3437T>A (p.Leu1146Gln) c.3569T>A (p.Leu1190Gln) n.329A>T | |
6 | g.33446606T>C | CA363636941 | SYNGAP1,SYNGAP1-AS1 | c.3356T>C (p.Leu1119Pro) c.3614T>C (p.Leu1205Pro) c.3566T>C (p.Leu1189Pro) c.3437T>C (p.Leu1146Pro) c.3569T>C (p.Leu1190Pro) n.329A>G | |
6 | g.33446606T>G | CA363636944 | SYNGAP1,SYNGAP1-AS1 | c.3356T>G (p.Leu1119Arg) c.3614T>G (p.Leu1205Arg) c.3566T>G (p.Leu1189Arg) c.3437T>G (p.Leu1146Arg) c.3569T>G (p.Leu1190Arg) n.329A>C | |
6 | g.33446607G>A | CA449839622 | SYNGAP1,SYNGAP1-AS1 | c.3357G>A (p.Leu1119=) c.3615G>A (p.Leu1205=) c.3567G>A (p.Leu1189=) c.3438G>A (p.Leu1146=) c.3570G>A (p.Leu1190=) n.328C>T | gnomAD v4 |
6 | g.33446607G>C | CA449839623 | SYNGAP1,SYNGAP1-AS1 | c.3357G>C (p.Leu1119=) c.3615G>C (p.Leu1205=) c.3567G>C (p.Leu1189=) c.3438G>C (p.Leu1146=) c.3570G>C (p.Leu1190=) n.328C>G | |
6 | g.33446607G>T | CA449839624 | SYNGAP1,SYNGAP1-AS1 | c.3357G>T (p.Leu1119=) c.3615G>T (p.Leu1205=) c.3567G>T (p.Leu1189=) c.3438G>T (p.Leu1146=) c.3570G>T (p.Leu1190=) n.328C>A | |
6 | g.33446608A= | CA1620016840 | SYNGAP1,SYNGAP1-AS1 | c.3358A= (p.Lys1120=) c.3616A= (p.Lys1206=) c.3568A= (p.Lys1190=) c.3439A= (p.Lys1147=) c.3571A= (p.Lys1191=) n.327T= | |
6 | g.33446608A>C | CA363636947 | SYNGAP1,SYNGAP1-AS1 | c.3358A>C (p.Lys1120Gln) c.3616A>C (p.Lys1206Gln) c.3568A>C (p.Lys1190Gln) c.3439A>C (p.Lys1147Gln) c.3571A>C (p.Lys1191Gln) n.327T>G | |
6 | g.33446608A>G | CA363636949 | SYNGAP1,SYNGAP1-AS1 | c.3358A>G (p.Lys1120Glu) c.3616A>G (p.Lys1206Glu) c.3568A>G (p.Lys1190Glu) c.3439A>G (p.Lys1147Glu) c.3571A>G (p.Lys1191Glu) n.327T>C | |
6 | g.33446608A>T | CA363636951 | SYNGAP1,SYNGAP1-AS1 | c.3358A>T (p.Lys1120Ter) c.3616A>T (p.Lys1206Ter) c.3568A>T (p.Lys1190Ter) c.3439A>T (p.Lys1147Ter) c.3571A>T (p.Lys1191Ter) n.327T>A | dbSNP |
6 | g.33446610dup | CA2695206229 | SYNGAP1,SYNGAP1-AS1 | c.3360dup (p.Glu1121ArgfsTer14) c.3618dup (p.Glu1207ArgfsTer14) c.3570dup (p.Glu1191ArgfsTer14) c.3441dup (p.Glu1148ArgfsTer14) c.3573dup (p.Glu1192ArgfsTer14) n.327dup | |
6 | g.33446609A>C | CA363636958 | SYNGAP1,SYNGAP1-AS1 | c.3359A>C (p.Lys1120Thr) c.3617A>C (p.Lys1206Thr) c.3569A>C (p.Lys1190Thr) c.3440A>C (p.Lys1147Thr) c.3572A>C (p.Lys1191Thr) n.326T>G | |
6 | g.33446609A>G | CA363636956 | SYNGAP1,SYNGAP1-AS1 | c.3359A>G (p.Lys1120Arg) c.3617A>G (p.Lys1206Arg) c.3569A>G (p.Lys1190Arg) c.3440A>G (p.Lys1147Arg) c.3572A>G (p.Lys1191Arg) n.326T>C | |
6 | g.33446609A>T | CA363636953 | SYNGAP1,SYNGAP1-AS1 | c.3359A>T (p.Lys1120Ile) c.3617A>T (p.Lys1206Ile) c.3569A>T (p.Lys1190Ile) c.3440A>T (p.Lys1147Ile) c.3572A>T (p.Lys1191Ile) n.326T>A | |
6 | g.33446610A= | CA1620016844 | SYNGAP1,SYNGAP1-AS1 | c.3360A= (p.Lys1120=) c.3618A= (p.Lys1206=) c.3570A= (p.Lys1190=) c.3441A= (p.Lys1147=) c.3573A= (p.Lys1191=) n.325T= | |
6 | g.33446610A>C | CA363636960 | SYNGAP1,SYNGAP1-AS1 | c.3360A>C (p.Lys1120Asn) c.3618A>C (p.Lys1206Asn) c.3570A>C (p.Lys1190Asn) c.3441A>C (p.Lys1147Asn) c.3573A>C (p.Lys1191Asn) n.325T>G | |
6 | g.33446610A>G | CA449839625 | SYNGAP1,SYNGAP1-AS1 | c.3360A>G (p.Lys1120=) c.3618A>G (p.Lys1206=) c.3570A>G (p.Lys1190=) c.3441A>G (p.Lys1147=) c.3573A>G (p.Lys1191=) n.325T>C | dbSNP |
6 | g.33446610A>T | CA363636963 | SYNGAP1,SYNGAP1-AS1 | c.3360A>T (p.Lys1120Asn) c.3618A>T (p.Lys1206Asn) c.3570A>T (p.Lys1190Asn) c.3441A>T (p.Lys1147Asn) c.3573A>T (p.Lys1191Asn) n.325T>A | |
6 | g.33446611G>A | CA363636965 | SYNGAP1,SYNGAP1-AS1 | c.3361G>A (p.Glu1121Lys) c.3619G>A (p.Glu1207Lys) c.3571G>A (p.Glu1191Lys) c.3442G>A (p.Glu1148Lys) c.3574G>A (p.Glu1192Lys) n.324C>T | |
6 | g.33446611G>C | CA363636968 | SYNGAP1,SYNGAP1-AS1 | c.3361G>C (p.Glu1121Gln) c.3619G>C (p.Glu1207Gln) c.3571G>C (p.Glu1191Gln) c.3442G>C (p.Glu1148Gln) c.3574G>C (p.Glu1192Gln) n.324C>G | |
6 | g.33446611G= | CA1620016846 | SYNGAP1,SYNGAP1-AS1 | c.3361G= (p.Glu1121=) c.3619G= (p.Glu1207=) c.3571G= (p.Glu1191=) c.3442G= (p.Glu1148=) c.3574G= (p.Glu1192=) n.324C= | |
6 | g.33446611G>T | CA363636970 | SYNGAP1,SYNGAP1-AS1 | c.3361G>T (p.Glu1121Ter) c.3619G>T (p.Glu1207Ter) c.3571G>T (p.Glu1191Ter) c.3442G>T (p.Glu1148Ter) c.3574G>T (p.Glu1192Ter) n.324C>A | dbSNP |
6 | g.33446612A>C | CA363636973 | SYNGAP1,SYNGAP1-AS1 | c.3362A>C (p.Glu1121Ala) c.3620A>C (p.Glu1207Ala) c.3572A>C (p.Glu1191Ala) c.3443A>C (p.Glu1148Ala) c.3575A>C (p.Glu1192Ala) n.323T>G | |
6 | g.33446612A>G | CA363636975 | SYNGAP1,SYNGAP1-AS1 | c.3362A>G (p.Glu1121Gly) c.3620A>G (p.Glu1207Gly) c.3572A>G (p.Glu1191Gly) c.3443A>G (p.Glu1148Gly) c.3575A>G (p.Glu1192Gly) n.323T>C | |
6 | g.33446612A>T | CA363636979 | SYNGAP1,SYNGAP1-AS1 | c.3362A>T (p.Glu1121Val) c.3620A>T (p.Glu1207Val) c.3572A>T (p.Glu1191Val) c.3443A>T (p.Glu1148Val) c.3575A>T (p.Glu1192Val) n.323T>A | |
6 | g.33446613G>A | CA449839626 | SYNGAP1,SYNGAP1-AS1 | c.3363G>A (p.Glu1121=) c.3621G>A (p.Glu1207=) c.3573G>A (p.Glu1191=) c.3444G>A (p.Glu1148=) c.3576G>A (p.Glu1192=) n.322C>T | |
6 | g.33446613G>C | CA363636980 | SYNGAP1,SYNGAP1-AS1 | c.3363G>C (p.Glu1121Asp) c.3621G>C (p.Glu1207Asp) c.3573G>C (p.Glu1191Asp) c.3444G>C (p.Glu1148Asp) c.3576G>C (p.Glu1192Asp) n.322C>G | |
6 | g.33446613G>T | CA363636982 | SYNGAP1,SYNGAP1-AS1 | c.3363G>T (p.Glu1121Asp) c.3621G>T (p.Glu1207Asp) c.3573G>T (p.Glu1191Asp) c.3444G>T (p.Glu1148Asp) c.3576G>T (p.Glu1192Asp) n.322C>A | |
6 | g.33446614C>A | CA449839627 | SYNGAP1,SYNGAP1-AS1 | c.3364C>A (p.Arg1122=) c.3622C>A (p.Arg1208=) c.3574C>A (p.Arg1192=) c.3445C>A (p.Arg1149=) c.3577C>A (p.Arg1193=) n.321G>T | gnomAD v4 |
6 | g.33446614C= | CA1620016849 | SYNGAP1,SYNGAP1-AS1 | c.3364C= (p.Arg1122=) c.3622C= (p.Arg1208=) c.3574C= (p.Arg1192=) c.3445C= (p.Arg1149=) c.3577C= (p.Arg1193=) n.321G= | |
6 | g.33446614C>G | CA363636985 | SYNGAP1,SYNGAP1-AS1 | c.3364C>G (p.Arg1122Gly) c.3622C>G (p.Arg1208Gly) c.3574C>G (p.Arg1192Gly) c.3445C>G (p.Arg1149Gly) c.3577C>G (p.Arg1193Gly) n.321G>C | |
6 | g.33446614C>T | CA363636987 | SYNGAP1,SYNGAP1-AS1 | c.3364C>T (p.Arg1122Trp) c.3622C>T (p.Arg1208Trp) c.3574C>T (p.Arg1192Trp) c.3445C>T (p.Arg1149Trp) c.3577C>T (p.Arg1193Trp) n.321G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33446615G>A | CA363636996 | SYNGAP1,SYNGAP1-AS1 | c.3365G>A (p.Arg1122Gln) c.3623G>A (p.Arg1208Gln) c.3575G>A (p.Arg1192Gln) c.3446G>A (p.Arg1149Gln) c.3578G>A (p.Arg1193Gln) n.320C>T | COSMIC COSMIC |
6 | g.33446615G>C | CA363636993 | SYNGAP1,SYNGAP1-AS1 | c.3365G>C (p.Arg1122Pro) c.3623G>C (p.Arg1208Pro) c.3575G>C (p.Arg1192Pro) c.3446G>C (p.Arg1149Pro) c.3578G>C (p.Arg1193Pro) n.320C>G | |
6 | g.33446615G>T | CA363636990 | SYNGAP1,SYNGAP1-AS1 | c.3365G>T (p.Arg1122Leu) c.3623G>T (p.Arg1208Leu) c.3575G>T (p.Arg1192Leu) c.3446G>T (p.Arg1149Leu) c.3578G>T (p.Arg1193Leu) n.320C>A | |
6 | g.33446616G>A | CA449839628 | SYNGAP1,SYNGAP1-AS1 | c.3366G>A (p.Arg1122=) c.3624G>A (p.Arg1208=) c.3576G>A (p.Arg1192=) c.3447G>A (p.Arg1149=) c.3579G>A (p.Arg1193=) n.319C>T | |
6 | g.33446616G>C | CA449839629 | SYNGAP1,SYNGAP1-AS1 | c.3366G>C (p.Arg1122=) c.3624G>C (p.Arg1208=) c.3576G>C (p.Arg1192=) c.3447G>C (p.Arg1149=) c.3579G>C (p.Arg1193=) n.319C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33446616G= | CA1620016854 | SYNGAP1,SYNGAP1-AS1 | c.3366G= (p.Arg1122=) c.3624G= (p.Arg1208=) c.3576G= (p.Arg1192=) c.3447G= (p.Arg1149=) c.3579G= (p.Arg1193=) n.319C= | |
6 | g.33446616G>T | CA449839630 | SYNGAP1,SYNGAP1-AS1 | c.3366G>T (p.Arg1122=) c.3624G>T (p.Arg1208=) c.3576G>T (p.Arg1192=) c.3447G>T (p.Arg1149=) c.3579G>T (p.Arg1193=) n.319C>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446617C>A | CA363636998 | SYNGAP1,SYNGAP1-AS1 | c.3367C>A (p.Leu1123Met) c.3625C>A (p.Leu1209Met) c.3577C>A (p.Leu1193Met) c.3448C>A (p.Leu1150Met) c.3580C>A (p.Leu1194Met) n.318G>T | |
6 | g.33446617C>G | CA363636999 | SYNGAP1,SYNGAP1-AS1 | c.3367C>G (p.Leu1123Val) c.3625C>G (p.Leu1209Val) c.3577C>G (p.Leu1193Val) c.3448C>G (p.Leu1150Val) c.3580C>G (p.Leu1194Val) n.318G>C | |
6 | g.33446617C>T | CA449839631 | SYNGAP1,SYNGAP1-AS1 | c.3367C>T (p.Leu1123=) c.3625C>T (p.Leu1209=) c.3577C>T (p.Leu1193=) c.3448C>T (p.Leu1150=) c.3580C>T (p.Leu1194=) n.318G>A | |
6 | g.33446618T>A | CA363637002 | SYNGAP1,SYNGAP1-AS1 | c.3368T>A (p.Leu1123Gln) c.3626T>A (p.Leu1209Gln) c.3578T>A (p.Leu1193Gln) c.3449T>A (p.Leu1150Gln) c.3581T>A (p.Leu1194Gln) n.317A>T | |
6 | g.33446618T>C | CA363637005 | SYNGAP1,SYNGAP1-AS1 | c.3368T>C (p.Leu1123Pro) c.3626T>C (p.Leu1209Pro) c.3578T>C (p.Leu1193Pro) c.3449T>C (p.Leu1150Pro) c.3581T>C (p.Leu1194Pro) n.317A>G | |
6 | g.33446618T>G | CA363637007 | SYNGAP1,SYNGAP1-AS1 | c.3368T>G (p.Leu1123Arg) c.3626T>G (p.Leu1209Arg) c.3578T>G (p.Leu1193Arg) c.3449T>G (p.Leu1150Arg) c.3581T>G (p.Leu1194Arg) n.317A>C | |
6 | g.33446619G>A | CA449839632 | SYNGAP1,SYNGAP1-AS1 | c.3369G>A (p.Leu1123=) c.3627G>A (p.Leu1209=) c.3579G>A (p.Leu1193=) c.3450G>A (p.Leu1150=) c.3582G>A (p.Leu1194=) n.316C>T | dbSNP gnomAD v4 |
6 | g.33446619G>C | CA449839633 | SYNGAP1,SYNGAP1-AS1 | c.3369G>C (p.Leu1123=) c.3627G>C (p.Leu1209=) c.3579G>C (p.Leu1193=) c.3450G>C (p.Leu1150=) c.3582G>C (p.Leu1194=) n.316C>G | |
6 | g.33446619G= | CA1620016858 | SYNGAP1,SYNGAP1-AS1 | c.3369G= (p.Leu1123=) c.3627G= (p.Leu1209=) c.3579G= (p.Leu1193=) c.3450G= (p.Leu1150=) c.3582G= (p.Leu1194=) n.316C= | |
6 | g.33446619G>T | CA449839634 | SYNGAP1,SYNGAP1-AS1 | c.3369G>T (p.Leu1123=) c.3627G>T (p.Leu1209=) c.3579G>T (p.Leu1193=) c.3450G>T (p.Leu1150=) c.3582G>T (p.Leu1194=) n.316C>A | |
6 | g.33446620C>A | CA363637011 | SYNGAP1,SYNGAP1-AS1 | c.3370C>A (p.His1124Asn) c.3628C>A (p.His1210Asn) c.3580C>A (p.His1194Asn) c.3451C>A (p.His1151Asn) c.3583C>A (p.His1195Asn) n.315G>T | |
6 | g.33446620C>G | CA363637013 | SYNGAP1,SYNGAP1-AS1 | c.3370C>G (p.His1124Asp) c.3628C>G (p.His1210Asp) c.3580C>G (p.His1194Asp) c.3451C>G (p.His1151Asp) c.3583C>G (p.His1195Asp) n.315G>C | |
6 | g.33446620C>T | CA363637016 | SYNGAP1,SYNGAP1-AS1 | c.3370C>T (p.His1124Tyr) c.3628C>T (p.His1210Tyr) c.3580C>T (p.His1194Tyr) c.3451C>T (p.His1151Tyr) c.3583C>T (p.His1195Tyr) n.315G>A | |
6 | g.33446621A>C | CA363637020 | SYNGAP1,SYNGAP1-AS1 | c.3371A>C (p.His1124Pro) c.3629A>C (p.His1210Pro) c.3581A>C (p.His1194Pro) c.3452A>C (p.His1151Pro) c.3584A>C (p.His1195Pro) n.314T>G | |
6 | g.33446621A>G | CA363637022 | SYNGAP1,SYNGAP1-AS1 | c.3371A>G (p.His1124Arg) c.3629A>G (p.His1210Arg) c.3581A>G (p.His1194Arg) c.3452A>G (p.His1151Arg) c.3584A>G (p.His1195Arg) n.314T>C | |
6 | g.33446621A>T | CA363637024 | SYNGAP1,SYNGAP1-AS1 | c.3371A>T (p.His1124Leu) c.3629A>T (p.His1210Leu) c.3581A>T (p.His1194Leu) c.3452A>T (p.His1151Leu) c.3584A>T (p.His1195Leu) n.314T>A | |
6 | g.33446622C>A | CA363637025 | SYNGAP1,SYNGAP1-AS1 | c.3372C>A (p.His1124Gln) c.3630C>A (p.His1210Gln) c.3582C>A (p.His1194Gln) c.3453C>A (p.His1151Gln) c.3585C>A (p.His1195Gln) n.313G>T | |
6 | g.33446622C>G | CA363637026 | SYNGAP1,SYNGAP1-AS1 | c.3372C>G (p.His1124Gln) c.3630C>G (p.His1210Gln) c.3582C>G (p.His1194Gln) c.3453C>G (p.His1151Gln) c.3585C>G (p.His1195Gln) n.313G>C | |
6 | g.33446622C>T | CA449839635 | SYNGAP1,SYNGAP1-AS1 | c.3372C>T (p.His1124=) c.3630C>T (p.His1210=) c.3582C>T (p.His1194=) c.3453C>T (p.His1151=) c.3585C>T (p.His1195=) n.313G>A | gnomAD v4 |
6 | g.33446623A= | CA1620016859 | SYNGAP1,SYNGAP1-AS1 | c.3373A= (p.Met1125=) c.3631A= (p.Met1211=) c.3583A= (p.Met1195=) c.3454A= (p.Met1152=) c.3586A= (p.Met1196=) n.312T= | |
6 | g.33446623A>C | CA363637029 | SYNGAP1,SYNGAP1-AS1 | c.3373A>C (p.Met1125Leu) c.3631A>C (p.Met1211Leu) c.3583A>C (p.Met1195Leu) c.3454A>C (p.Met1152Leu) c.3586A>C (p.Met1196Leu) n.312T>G | |
6 | g.33446623A>G | CA3759079 | SYNGAP1,SYNGAP1-AS1 | c.3373A>G (p.Met1125Val) c.3631A>G (p.Met1211Val) c.3583A>G (p.Met1195Val) c.3454A>G (p.Met1152Val) c.3586A>G (p.Met1196Val) n.312T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33446623A>T | CA363637027 | SYNGAP1,SYNGAP1-AS1 | c.3373A>T (p.Met1125Leu) c.3631A>T (p.Met1211Leu) c.3583A>T (p.Met1195Leu) c.3454A>T (p.Met1152Leu) c.3586A>T (p.Met1196Leu) n.312T>A | |
6 | g.33446624del | CA2499218232 | SYNGAP1,SYNGAP1-AS1 | c.3374del (p.Met1125SerfsTer24) c.3632del (p.Met1211SerfsTer24) c.3584del (p.Met1195SerfsTer24) c.3455del (p.Met1152SerfsTer24) c.3587del (p.Met1196SerfsTer24) n.311del | ClinVar dbSNP |
6 | g.33446624T>A | CA363637032 | SYNGAP1,SYNGAP1-AS1 | c.3374T>A (p.Met1125Lys) c.3632T>A (p.Met1211Lys) c.3584T>A (p.Met1195Lys) c.3455T>A (p.Met1152Lys) c.3587T>A (p.Met1196Lys) n.311A>T | ClinVar dbSNP |
6 | g.33446624T>C | CA363637033 | SYNGAP1,SYNGAP1-AS1 | c.3374T>C (p.Met1125Thr) c.3632T>C (p.Met1211Thr) c.3584T>C (p.Met1195Thr) c.3455T>C (p.Met1152Thr) c.3587T>C (p.Met1196Thr) n.311A>G | |
6 | g.33446624T>G | CA363637035 | SYNGAP1,SYNGAP1-AS1 | c.3374T>G (p.Met1125Arg) c.3632T>G (p.Met1211Arg) c.3584T>G (p.Met1195Arg) c.3455T>G (p.Met1152Arg) c.3587T>G (p.Met1196Arg) n.311A>C | |
6 | g.33446624T= | CA1620016862 | SYNGAP1,SYNGAP1-AS1 | c.3374T= (p.Met1125=) c.3632T= (p.Met1211=) c.3584T= (p.Met1195=) c.3455T= (p.Met1152=) c.3587T= (p.Met1196=) n.311A= | |
6 | g.33446625G>A | CA3759080 | SYNGAP1,SYNGAP1-AS1 | c.3375G>A (p.Met1125Ile) c.3633G>A (p.Met1211Ile) c.3585G>A (p.Met1195Ile) c.3456G>A (p.Met1152Ile) c.3588G>A (p.Met1196Ile) n.310C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33446625G>C | CA363637037 | SYNGAP1,SYNGAP1-AS1 | c.3375G>C (p.Met1125Ile) c.3633G>C (p.Met1211Ile) c.3585G>C (p.Met1195Ile) c.3456G>C (p.Met1152Ile) c.3588G>C (p.Met1196Ile) n.310C>G | |
6 | g.33446625G= | CA1620016863 | SYNGAP1,SYNGAP1-AS1 | c.3375G= (p.Met1125=) c.3633G= (p.Met1211=) c.3585G= (p.Met1195=) c.3456G= (p.Met1152=) c.3588G= (p.Met1196=) n.310C= | |
6 | g.33446625G>T | CA363637039 | SYNGAP1,SYNGAP1-AS1 | c.3375G>T (p.Met1125Ile) c.3633G>T (p.Met1211Ile) c.3585G>T (p.Met1195Ile) c.3456G>T (p.Met1152Ile) c.3588G>T (p.Met1196Ile) n.310C>A | |
6 | g.33446626T>A | CA363637041 | SYNGAP1,SYNGAP1-AS1 | c.3376T>A (p.Ser1126Thr) c.3634T>A (p.Ser1212Thr) c.3586T>A (p.Ser1196Thr) c.3457T>A (p.Ser1153Thr) c.3589T>A (p.Ser1197Thr) n.309A>T | |
6 | g.33446626T>C | CA137075357 | SYNGAP1,SYNGAP1-AS1 | c.3376T>C (p.Ser1126Pro) c.3634T>C (p.Ser1212Pro) c.3586T>C (p.Ser1196Pro) c.3457T>C (p.Ser1153Pro) c.3589T>C (p.Ser1197Pro) n.309A>G | dbSNP |
6 | g.33446626T>G | CA363637044 | SYNGAP1,SYNGAP1-AS1 | c.3376T>G (p.Ser1126Ala) c.3634T>G (p.Ser1212Ala) c.3586T>G (p.Ser1196Ala) c.3457T>G (p.Ser1153Ala) c.3589T>G (p.Ser1197Ala) n.309A>C | |
6 | g.33446626T= | CA1620016865 | SYNGAP1,SYNGAP1-AS1 | c.3376T= (p.Ser1126=) c.3634T= (p.Ser1212=) c.3586T= (p.Ser1196=) c.3457T= (p.Ser1153=) c.3589T= (p.Ser1197=) n.309A= | |
6 | g.33446627C>A | CA363637047 | SYNGAP1,SYNGAP1-AS1 | c.3377C>A (p.Ser1126Tyr) c.3635C>A (p.Ser1212Tyr) c.3587C>A (p.Ser1196Tyr) c.3458C>A (p.Ser1153Tyr) c.3590C>A (p.Ser1197Tyr) n.308G>T | |
6 | g.33446627C= | CA1620016867 | SYNGAP1,SYNGAP1-AS1 | c.3377C= (p.Ser1126=) c.3635C= (p.Ser1212=) c.3587C= (p.Ser1196=) c.3458C= (p.Ser1153=) c.3590C= (p.Ser1197=) n.308G= | |
6 | g.33446627C>G | CA363637048 | SYNGAP1,SYNGAP1-AS1 | c.3377C>G (p.Ser1126Cys) c.3635C>G (p.Ser1212Cys) c.3587C>G (p.Ser1196Cys) c.3458C>G (p.Ser1153Cys) c.3590C>G (p.Ser1197Cys) n.308G>C | |
6 | g.33446627C>T | CA363637051 | SYNGAP1,SYNGAP1-AS1 | c.3377C>T (p.Ser1126Phe) c.3635C>T (p.Ser1212Phe) c.3587C>T (p.Ser1196Phe) c.3458C>T (p.Ser1153Phe) c.3590C>T (p.Ser1197Phe) n.308G>A | ClinVar dbSNP |
6 | g.33446628C>A | CA449839636 | SYNGAP1,SYNGAP1-AS1 | c.3378C>A (p.Ser1126=) c.3636C>A (p.Ser1212=) c.3588C>A (p.Ser1196=) c.3459C>A (p.Ser1153=) c.3591C>A (p.Ser1197=) n.307G>T | |
6 | g.33446628C= | CA1620016870 | SYNGAP1,SYNGAP1-AS1 | c.3378C= (p.Ser1126=) c.3636C= (p.Ser1212=) c.3588C= (p.Ser1196=) c.3459C= (p.Ser1153=) c.3591C= (p.Ser1197=) n.307G= | |
6 | g.33446628C>G | CA449839638 | SYNGAP1,SYNGAP1-AS1 | c.3378C>G (p.Ser1126=) c.3636C>G (p.Ser1212=) c.3588C>G (p.Ser1196=) c.3459C>G (p.Ser1153=) c.3591C>G (p.Ser1197=) n.307G>C | |
6 | g.33446628C>T | CA449839637 | SYNGAP1,SYNGAP1-AS1 | c.3378C>T (p.Ser1126=) c.3636C>T (p.Ser1212=) c.3588C>T (p.Ser1196=) c.3459C>T (p.Ser1153=) c.3591C>T (p.Ser1197=) n.307G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446629A>C | CA363637056 | SYNGAP1,SYNGAP1-AS1 | c.3379A>C (p.Asn1127His) c.3637A>C (p.Asn1213His) c.3589A>C (p.Asn1197His) c.3460A>C (p.Asn1154His) c.3592A>C (p.Asn1198His) n.306T>G | |
6 | g.33446629A>G | CA363637057 | SYNGAP1,SYNGAP1-AS1 | c.3379A>G (p.Asn1127Asp) c.3637A>G (p.Asn1213Asp) c.3589A>G (p.Asn1197Asp) c.3460A>G (p.Asn1154Asp) c.3592A>G (p.Asn1198Asp) n.306T>C | |
6 | g.33446629A>T | CA363637054 | SYNGAP1,SYNGAP1-AS1 | c.3379A>T (p.Asn1127Tyr) c.3637A>T (p.Asn1213Tyr) c.3589A>T (p.Asn1197Tyr) c.3460A>T (p.Asn1154Tyr) c.3592A>T (p.Asn1198Tyr) n.306T>A | |
6 | g.33446630A= | CA1620016873 | SYNGAP1,SYNGAP1-AS1 | c.3380A= (p.Asn1127=) c.3638A= (p.Asn1213=) c.3590A= (p.Asn1197=) c.3461A= (p.Asn1154=) c.3593A= (p.Asn1198=) n.305T= | |
6 | g.33446630A>C | CA137075361 | SYNGAP1,SYNGAP1-AS1 | c.3380A>C (p.Asn1127Thr) c.3638A>C (p.Asn1213Thr) c.3590A>C (p.Asn1197Thr) c.3461A>C (p.Asn1154Thr) c.3593A>C (p.Asn1198Thr) n.305T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33446630A>G | CA3759081 | SYNGAP1,SYNGAP1-AS1 | c.3380A>G (p.Asn1127Ser) c.3638A>G (p.Asn1213Ser) c.3590A>G (p.Asn1197Ser) c.3461A>G (p.Asn1154Ser) c.3593A>G (p.Asn1198Ser) n.305T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33446630A>T | CA363637062 | SYNGAP1,SYNGAP1-AS1 | c.3380A>T (p.Asn1127Ile) c.3638A>T (p.Asn1213Ile) c.3590A>T (p.Asn1197Ile) c.3461A>T (p.Asn1154Ile) c.3593A>T (p.Asn1198Ile) n.305T>A | |
6 | g.33446631C>A | CA363637063 | SYNGAP1,SYNGAP1-AS1 | c.3381C>A (p.Asn1127Lys) c.3639C>A (p.Asn1213Lys) c.3591C>A (p.Asn1197Lys) c.3462C>A (p.Asn1154Lys) c.3594C>A (p.Asn1198Lys) n.304G>T | |
6 | g.33446631C>G | CA363637065 | SYNGAP1,SYNGAP1-AS1 | c.3381C>G (p.Asn1127Lys) c.3639C>G (p.Asn1213Lys) c.3591C>G (p.Asn1197Lys) c.3462C>G (p.Asn1154Lys) c.3594C>G (p.Asn1198Lys) n.304G>C | |
6 | g.33446631C>T | CA449839639 | SYNGAP1,SYNGAP1-AS1 | c.3381C>T (p.Asn1127=) c.3639C>T (p.Asn1213=) c.3591C>T (p.Asn1197=) c.3462C>T (p.Asn1154=) c.3594C>T (p.Asn1198=) n.304G>A | |
6 | g.33446632dup | CA2842726885 | SYNGAP1,SYNGAP1-AS1 | c.3382dup (p.Arg1128ProfsTer7) c.3640dup (p.Arg1214ProfsTer7) c.3592dup (p.Arg1198ProfsTer7) c.3463dup (p.Arg1155ProfsTer7) c.3595dup (p.Arg1199ProfsTer7) n.304dup | |
6 | g.33446632C>A | CA449839640 | SYNGAP1,SYNGAP1-AS1 | c.3382C>A (p.Arg1128=) c.3640C>A (p.Arg1214=) c.3592C>A (p.Arg1198=) c.3463C>A (p.Arg1155=) c.3595C>A (p.Arg1199=) n.303G>T | |
6 | g.33446632C>G | CA363637068 | SYNGAP1,SYNGAP1-AS1 | c.3382C>G (p.Arg1128Gly) c.3640C>G (p.Arg1214Gly) c.3592C>G (p.Arg1198Gly) c.3463C>G (p.Arg1155Gly) c.3595C>G (p.Arg1199Gly) n.303G>C | gnomAD v4 |
6 | g.33446632C>T | CA363637071 | SYNGAP1,SYNGAP1-AS1 | c.3382C>T (p.Arg1128Trp) c.3640C>T (p.Arg1214Trp) c.3592C>T (p.Arg1198Trp) c.3463C>T (p.Arg1155Trp) c.3595C>T (p.Arg1199Trp) n.303G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33446632_33446633delinsCG | CA1620016876 | SYNGAP1,SYNGAP1-AS1 | c.3382_3383delinsCG (p.Arg1128=) c.3640_3641delinsCG (p.Arg1214=) c.3592_3593delinsCG (p.Arg1198=) c.3463_3464delinsCG (p.Arg1155=) c.3595_3596delinsCG (p.Arg1199=) n.302_303delinsCG | |
6 | g.33446633G>A | CA3759082 | SYNGAP1,SYNGAP1-AS1 | c.3383G>A (p.Arg1128Gln) c.3641G>A (p.Arg1214Gln) c.3593G>A (p.Arg1198Gln) c.3464G>A (p.Arg1155Gln) c.3596G>A (p.Arg1199Gln) n.302C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.33446633G>C | CA363637073 | SYNGAP1,SYNGAP1-AS1 | c.3383G>C (p.Arg1128Pro) c.3641G>C (p.Arg1214Pro) c.3593G>C (p.Arg1198Pro) c.3464G>C (p.Arg1155Pro) c.3596G>C (p.Arg1199Pro) n.302C>G | |
6 | g.33446633G= | CA1620016881 | SYNGAP1,SYNGAP1-AS1 | c.3383G= (p.Arg1128=) c.3641G= (p.Arg1214=) c.3593G= (p.Arg1198=) c.3464G= (p.Arg1155=) c.3596G= (p.Arg1199=) n.302C= | |
6 | g.33446633G>T | CA363637075 | SYNGAP1,SYNGAP1-AS1 | c.3383G>T (p.Arg1128Leu) c.3641G>T (p.Arg1214Leu) c.3593G>T (p.Arg1198Leu) c.3464G>T (p.Arg1155Leu) c.3596G>T (p.Arg1199Leu) n.302C>A | |
6 | g.33446634del | CA658796752 | SYNGAP1,SYNGAP1-AS1 | c.3384del (p.Lys1129SerfsTer20) c.3642del (p.Lys1215SerfsTer20) c.3594del (p.Lys1199SerfsTer20) c.3465del (p.Lys1156SerfsTer20) c.3597del (p.Lys1200SerfsTer20) n.302del | ClinVar dbSNP |
6 | g.33446634G>A | CA449839641 | SYNGAP1,SYNGAP1-AS1 | c.3384G>A (p.Arg1128=) c.3642G>A (p.Arg1214=) c.3594G>A (p.Arg1198=) c.3465G>A (p.Arg1155=) c.3597G>A (p.Arg1199=) n.301C>T | |
6 | g.33446634G>C | CA449839642 | SYNGAP1,SYNGAP1-AS1 | c.3384G>C (p.Arg1128=) c.3642G>C (p.Arg1214=) c.3594G>C (p.Arg1198=) c.3465G>C (p.Arg1155=) c.3597G>C (p.Arg1199=) n.301C>G | gnomAD v4 |
6 | g.33446634G>T | CA449839643 | SYNGAP1,SYNGAP1-AS1 | c.3384G>T (p.Arg1128=) c.3642G>T (p.Arg1214=) c.3594G>T (p.Arg1198=) c.3465G>T (p.Arg1155=) c.3597G>T (p.Arg1199=) n.301C>A | |
6 | g.33446635A= | CA1620016886 | SYNGAP1,SYNGAP1-AS1 | c.3385A= (p.Lys1129=) c.3643A= (p.Lys1215=) c.3595A= (p.Lys1199=) c.3466A= (p.Lys1156=) c.3598A= (p.Lys1200=) n.300T= | |
6 | g.33446635A>C | CA363637077 | SYNGAP1,SYNGAP1-AS1 | c.3385A>C (p.Lys1129Gln) c.3643A>C (p.Lys1215Gln) c.3595A>C (p.Lys1199Gln) c.3466A>C (p.Lys1156Gln) c.3598A>C (p.Lys1200Gln) n.300T>G | |
6 | g.33446635A>G | CA363637079 | SYNGAP1,SYNGAP1-AS1 | c.3385A>G (p.Lys1129Glu) c.3643A>G (p.Lys1215Glu) c.3595A>G (p.Lys1199Glu) c.3466A>G (p.Lys1156Glu) c.3598A>G (p.Lys1200Glu) n.300T>C | |
6 | g.33446635A>T | CA363637080 | SYNGAP1,SYNGAP1-AS1 | c.3385A>T (p.Lys1129Ter) c.3643A>T (p.Lys1215Ter) c.3595A>T (p.Lys1199Ter) c.3466A>T (p.Lys1156Ter) c.3598A>T (p.Lys1200Ter) n.300T>A | dbSNP |
6 | g.33446636A>C | CA363637087 | SYNGAP1,SYNGAP1-AS1 | c.3386A>C (p.Lys1129Thr) c.3644A>C (p.Lys1215Thr) c.3596A>C (p.Lys1199Thr) c.3467A>C (p.Lys1156Thr) c.3599A>C (p.Lys1200Thr) n.299T>G | |
6 | g.33446636A>G | CA363637085 | SYNGAP1,SYNGAP1-AS1 | c.3386A>G (p.Lys1129Arg) c.3644A>G (p.Lys1215Arg) c.3596A>G (p.Lys1199Arg) c.3467A>G (p.Lys1156Arg) c.3599A>G (p.Lys1200Arg) n.299T>C | |
6 | g.33446636A>T | CA363637083 | SYNGAP1,SYNGAP1-AS1 | c.3386A>T (p.Lys1129Met) c.3644A>T (p.Lys1215Met) c.3596A>T (p.Lys1199Met) c.3467A>T (p.Lys1156Met) c.3599A>T (p.Lys1200Met) n.299T>A | |
6 | g.33446637G>A | CA449839644 | SYNGAP1,SYNGAP1-AS1 | c.3387G>A (p.Lys1129=) c.3645G>A (p.Lys1215=) c.3597G>A (p.Lys1199=) c.3468G>A (p.Lys1156=) c.3600G>A (p.Lys1200=) n.298C>T | |
6 | g.33446637G>C | CA363637088 | SYNGAP1,SYNGAP1-AS1 | c.3387G>C (p.Lys1129Asn) c.3645G>C (p.Lys1215Asn) c.3597G>C (p.Lys1199Asn) c.3468G>C (p.Lys1156Asn) c.3600G>C (p.Lys1200Asn) n.298C>G | |
6 | g.33446637G>T | CA363637090 | SYNGAP1,SYNGAP1-AS1 | c.3387G>T (p.Lys1129Asn) c.3645G>T (p.Lys1215Asn) c.3597G>T (p.Lys1199Asn) c.3468G>T (p.Lys1156Asn) c.3600G>T (p.Lys1200Asn) n.298C>A | |
6 | g.33446638C>A | CA363637093 | SYNGAP1,SYNGAP1-AS1 | c.3388C>A (p.Leu1130Met) c.3646C>A (p.Leu1216Met) c.3598C>A (p.Leu1200Met) c.3469C>A (p.Leu1157Met) c.3601C>A (p.Leu1201Met) n.297G>T | |
6 | g.33446638C>G | CA363637096 | SYNGAP1,SYNGAP1-AS1 | c.3388C>G (p.Leu1130Val) c.3646C>G (p.Leu1216Val) c.3598C>G (p.Leu1200Val) c.3469C>G (p.Leu1157Val) c.3601C>G (p.Leu1201Val) n.297G>C | |
6 | g.33446638C>T | CA449839645 | SYNGAP1,SYNGAP1-AS1 | c.3388C>T (p.Leu1130=) c.3646C>T (p.Leu1216=) c.3598C>T (p.Leu1200=) c.3469C>T (p.Leu1157=) c.3601C>T (p.Leu1201=) n.297G>A | |
6 | g.33446639T>A | CA363637099 | SYNGAP1,SYNGAP1-AS1 | c.3389T>A (p.Leu1130Gln) c.3647T>A (p.Leu1216Gln) c.3599T>A (p.Leu1200Gln) c.3470T>A (p.Leu1157Gln) c.3602T>A (p.Leu1201Gln) n.296A>T | |
6 | g.33446639T>C | CA363637100 | SYNGAP1,SYNGAP1-AS1 | c.3389T>C (p.Leu1130Pro) c.3647T>C (p.Leu1216Pro) c.3599T>C (p.Leu1200Pro) c.3470T>C (p.Leu1157Pro) c.3602T>C (p.Leu1201Pro) n.296A>G | |
6 | g.33446639T>G | CA363637103 | SYNGAP1,SYNGAP1-AS1 | c.3389T>G (p.Leu1130Arg) c.3647T>G (p.Leu1216Arg) c.3599T>G (p.Leu1200Arg) c.3470T>G (p.Leu1157Arg) c.3602T>G (p.Leu1201Arg) n.296A>C | |
6 | g.33446640G>A | CA449839646 | SYNGAP1,SYNGAP1-AS1 | c.3390G>A (p.Leu1130=) c.3648G>A (p.Leu1216=) c.3600G>A (p.Leu1200=) c.3471G>A (p.Leu1157=) c.3603G>A (p.Leu1201=) n.295C>T | dbSNP gnomAD v4 |
6 | g.33446640G>C | CA449839647 | SYNGAP1,SYNGAP1-AS1 | c.3390G>C (p.Leu1130=) c.3648G>C (p.Leu1216=) c.3600G>C (p.Leu1200=) c.3471G>C (p.Leu1157=) c.3603G>C (p.Leu1201=) n.295C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446640G= | CA1620016888 | SYNGAP1,SYNGAP1-AS1 | c.3390G= (p.Leu1130=) c.3648G= (p.Leu1216=) c.3600G= (p.Leu1200=) c.3471G= (p.Leu1157=) c.3603G= (p.Leu1201=) n.295C= | |
6 | g.33446640G>T | CA449839648 | SYNGAP1,SYNGAP1-AS1 | c.3390G>T (p.Leu1130=) c.3648G>T (p.Leu1216=) c.3600G>T (p.Leu1200=) c.3471G>T (p.Leu1157=) c.3603G>T (p.Leu1201=) n.295C>A | |
6 | g.33446641G>A | CA363637106 | SYNGAP1,SYNGAP1-AS1 | c.3391G>A (p.Glu1131Lys) c.3649G>A (p.Glu1217Lys) c.3601G>A (p.Glu1201Lys) c.3472G>A (p.Glu1158Lys) c.3604G>A (p.Glu1202Lys) n.294C>T | |
6 | g.33446641G>C | CA363637108 | SYNGAP1,SYNGAP1-AS1 | c.3391G>C (p.Glu1131Gln) c.3649G>C (p.Glu1217Gln) c.3601G>C (p.Glu1201Gln) c.3472G>C (p.Glu1158Gln) c.3604G>C (p.Glu1202Gln) n.294C>G | |
6 | g.33446641G= | CA1620016891 | SYNGAP1,SYNGAP1-AS1 | c.3391G= (p.Glu1131=) c.3649G= (p.Glu1217=) c.3601G= (p.Glu1201=) c.3472G= (p.Glu1158=) c.3604G= (p.Glu1202=) n.294C= | |
6 | g.33446641G>T | CA363637111 | SYNGAP1,SYNGAP1-AS1 | c.3391G>T (p.Glu1131Ter) c.3649G>T (p.Glu1217Ter) c.3601G>T (p.Glu1201Ter) c.3472G>T (p.Glu1158Ter) c.3604G>T (p.Glu1202Ter) n.294C>A | dbSNP |
6 | g.33446642A= | CA1620016895 | SYNGAP1,SYNGAP1-AS1 | c.3392A= (p.Glu1131=) c.3650A= (p.Glu1217=) c.3602A= (p.Glu1201=) c.3473A= (p.Glu1158=) c.3605A= (p.Glu1202=) n.293T= | |
6 | g.33446642A>C | CA363637114 | SYNGAP1,SYNGAP1-AS1 | c.3392A>C (p.Glu1131Ala) c.3650A>C (p.Glu1217Ala) c.3602A>C (p.Glu1201Ala) c.3473A>C (p.Glu1158Ala) c.3605A>C (p.Glu1202Ala) n.293T>G | |
6 | g.33446642A>G | CA363637116 | SYNGAP1,SYNGAP1-AS1 | c.3392A>G (p.Glu1131Gly) c.3650A>G (p.Glu1217Gly) c.3602A>G (p.Glu1201Gly) c.3473A>G (p.Glu1158Gly) c.3605A>G (p.Glu1202Gly) n.293T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446642A>T | CA363637118 | SYNGAP1,SYNGAP1-AS1 | c.3392A>T (p.Glu1131Val) c.3650A>T (p.Glu1217Val) c.3602A>T (p.Glu1201Val) c.3473A>T (p.Glu1158Val) c.3605A>T (p.Glu1202Val) n.293T>A | |
6 | g.33446643A>C | CA363637120 | SYNGAP1,SYNGAP1-AS1 | c.3393A>C (p.Glu1131Asp) c.3651A>C (p.Glu1217Asp) c.3603A>C (p.Glu1201Asp) c.3474A>C (p.Glu1158Asp) c.3606A>C (p.Glu1202Asp) n.292T>G | |
6 | g.33446643A>G | CA449839649 | SYNGAP1,SYNGAP1-AS1 | c.3393A>G (p.Glu1131=) c.3651A>G (p.Glu1217=) c.3603A>G (p.Glu1201=) c.3474A>G (p.Glu1158=) c.3606A>G (p.Glu1202=) n.292T>C | |
6 | g.33446643A>T | CA363637123 | SYNGAP1,SYNGAP1-AS1 | c.3393A>T (p.Glu1131Asp) c.3651A>T (p.Glu1217Asp) c.3603A>T (p.Glu1201Asp) c.3474A>T (p.Glu1158Asp) c.3606A>T (p.Glu1202Asp) n.292T>A | |
6 | g.33446644G>A | CA363637129 | SYNGAP1,SYNGAP1-AS1 | c.3394G>A (p.Glu1132Lys) c.3652G>A (p.Glu1218Lys) c.3604G>A (p.Glu1202Lys) c.3475G>A (p.Glu1159Lys) c.3607G>A (p.Glu1203Lys) n.291C>T | |
6 | g.33446644G>C | CA363637130 | SYNGAP1,SYNGAP1-AS1 | c.3394G>C (p.Glu1132Gln) c.3652G>C (p.Glu1218Gln) c.3604G>C (p.Glu1202Gln) c.3475G>C (p.Glu1159Gln) c.3607G>C (p.Glu1203Gln) n.291C>G | |
6 | g.33446644G= | CA1620016899 | SYNGAP1,SYNGAP1-AS1 | c.3394G= (p.Glu1132=) c.3652G= (p.Glu1218=) c.3604G= (p.Glu1202=) c.3475G= (p.Glu1159=) c.3607G= (p.Glu1203=) n.291C= | |
6 | g.33446644G>T | CA363637126 | SYNGAP1,SYNGAP1-AS1 | c.3394G>T (p.Glu1132Ter) c.3652G>T (p.Glu1218Ter) c.3604G>T (p.Glu1202Ter) c.3475G>T (p.Glu1159Ter) c.3607G>T (p.Glu1203Ter) n.291C>A | dbSNP |
6 | g.33446645A= | CA1620016901 | SYNGAP1,SYNGAP1-AS1 | c.3395A= (p.Glu1132=) c.3653A= (p.Glu1218=) c.3605A= (p.Glu1202=) c.3476A= (p.Glu1159=) c.3608A= (p.Glu1203=) n.290T= | |
6 | g.33446645A>C | CA363637133 | SYNGAP1,SYNGAP1-AS1 | c.3395A>C (p.Glu1132Ala) c.3653A>C (p.Glu1218Ala) c.3605A>C (p.Glu1202Ala) c.3476A>C (p.Glu1159Ala) c.3608A>C (p.Glu1203Ala) n.290T>G | |
6 | g.33446645A>G | CA363637135 | SYNGAP1,SYNGAP1-AS1 | c.3395A>G (p.Glu1132Gly) c.3653A>G (p.Glu1218Gly) c.3605A>G (p.Glu1202Gly) c.3476A>G (p.Glu1159Gly) c.3608A>G (p.Glu1203Gly) n.290T>C | |
6 | g.33446645A>T | CA363637138 | SYNGAP1,SYNGAP1-AS1 | c.3395A>T (p.Glu1132Val) c.3653A>T (p.Glu1218Val) c.3605A>T (p.Glu1202Val) c.3476A>T (p.Glu1159Val) c.3608A>T (p.Glu1203Val) n.290T>A | ClinVar dbSNP |
6 | g.33446646G>A | CA449839650 | SYNGAP1,SYNGAP1-AS1 | c.3396G>A (p.Glu1132=) c.3654G>A (p.Glu1218=) c.3606G>A (p.Glu1202=) c.3477G>A (p.Glu1159=) c.3609G>A (p.Glu1203=) n.289C>T | |
6 | g.33446646G>C | CA3759083 | SYNGAP1,SYNGAP1-AS1 | c.3396G>C (p.Glu1132Asp) c.3654G>C (p.Glu1218Asp) c.3606G>C (p.Glu1202Asp) c.3477G>C (p.Glu1159Asp) c.3609G>C (p.Glu1203Asp) n.289C>G | dbSNP ExAC |
6 | g.33446646G= | CA1620016905 | SYNGAP1,SYNGAP1-AS1 | c.3396G= (p.Glu1132=) c.3654G= (p.Glu1218=) c.3606G= (p.Glu1202=) c.3477G= (p.Glu1159=) c.3609G= (p.Glu1203=) n.289C= | |
6 | g.33446646G>T | CA363637141 | SYNGAP1,SYNGAP1-AS1 | c.3396G>T (p.Glu1132Asp) c.3654G>T (p.Glu1218Asp) c.3606G>T (p.Glu1202Asp) c.3477G>T (p.Glu1159Asp) c.3609G>T (p.Glu1203Asp) n.289C>A | |
6 | g.33446647T>A | CA363637142 | SYNGAP1,SYNGAP1-AS1 | c.3397T>A (p.Tyr1133Asn) c.3655T>A (p.Tyr1219Asn) c.3607T>A (p.Tyr1203Asn) c.3478T>A (p.Tyr1160Asn) c.3610T>A (p.Tyr1204Asn) n.288A>T | |
6 | g.33446647T>C | CA363637145 | SYNGAP1,SYNGAP1-AS1 | c.3397T>C (p.Tyr1133His) c.3655T>C (p.Tyr1219His) c.3607T>C (p.Tyr1203His) c.3478T>C (p.Tyr1160His) c.3610T>C (p.Tyr1204His) n.288A>G | ClinVar |
6 | g.33446647T>G | CA363637148 | SYNGAP1,SYNGAP1-AS1 | c.3397T>G (p.Tyr1133Asp) c.3655T>G (p.Tyr1219Asp) c.3607T>G (p.Tyr1203Asp) c.3478T>G (p.Tyr1160Asp) c.3610T>G (p.Tyr1204Asp) n.288A>C | |
6 | g.33446648A>C | CA363637151 | SYNGAP1,SYNGAP1-AS1 | c.3398A>C (p.Tyr1133Ser) c.3656A>C (p.Tyr1219Ser) c.3608A>C (p.Tyr1203Ser) c.3479A>C (p.Tyr1160Ser) c.3611A>C (p.Tyr1204Ser) n.287T>G | |
6 | g.33446648A>G | CA363637153 | SYNGAP1,SYNGAP1-AS1 | c.3398A>G (p.Tyr1133Cys) c.3656A>G (p.Tyr1219Cys) c.3608A>G (p.Tyr1203Cys) c.3479A>G (p.Tyr1160Cys) c.3611A>G (p.Tyr1204Cys) n.287T>C | |
6 | g.33446648A>T | CA363637156 | SYNGAP1,SYNGAP1-AS1 | c.3398A>T (p.Tyr1133Phe) c.3656A>T (p.Tyr1219Phe) c.3608A>T (p.Tyr1203Phe) c.3479A>T (p.Tyr1160Phe) c.3611A>T (p.Tyr1204Phe) n.287T>A | |
6 | g.33446649T>A | CA363637158 | SYNGAP1,SYNGAP1-AS1 | c.3399T>A (p.Tyr1133Ter) c.3657T>A (p.Tyr1219Ter) c.3609T>A (p.Tyr1203Ter) c.3480T>A (p.Tyr1160Ter) c.3612T>A (p.Tyr1204Ter) n.286A>T | |
6 | g.33446649T>C | CA449839651 | SYNGAP1,SYNGAP1-AS1 | c.3399T>C (p.Tyr1133=) c.3657T>C (p.Tyr1219=) c.3609T>C (p.Tyr1203=) c.3480T>C (p.Tyr1160=) c.3612T>C (p.Tyr1204=) n.286A>G | |
6 | g.33446649T>G | CA363637160 | SYNGAP1,SYNGAP1-AS1 | c.3399T>G (p.Tyr1133Ter) c.3657T>G (p.Tyr1219Ter) c.3609T>G (p.Tyr1203Ter) c.3480T>G (p.Tyr1160Ter) c.3612T>G (p.Tyr1204Ter) n.286A>C | |
6 | g.33446649_33446650del | CA2695206230 | SYNGAP1,SYNGAP1-AS1 | c.3399_3400del (p.Tyr1133Ter) c.3657_3658del (p.Tyr1219Ter) c.3609_3610del (p.Tyr1203Ter) c.3480_3481del (p.Tyr1160Ter) c.3612_3613del (p.Tyr1204Ter) n.285_286del | |
6 | g.33446650G>A | CA363637165 | SYNGAP1,SYNGAP1-AS1 | c.3400G>A (p.Glu1134Lys) c.3658G>A (p.Glu1220Lys) c.3610G>A (p.Glu1204Lys) c.3481G>A (p.Glu1161Lys) c.3613G>A (p.Glu1205Lys) n.285C>T | gnomAD v4 |
6 | g.33446650G>C | CA363637162 | SYNGAP1,SYNGAP1-AS1 | c.3400G>C (p.Glu1134Gln) c.3658G>C (p.Glu1220Gln) c.3610G>C (p.Glu1204Gln) c.3481G>C (p.Glu1161Gln) c.3613G>C (p.Glu1205Gln) n.285C>G | |
6 | g.33446650G= | CA1620016908 | SYNGAP1,SYNGAP1-AS1 | c.3400G= (p.Glu1134=) c.3658G= (p.Glu1220=) c.3610G= (p.Glu1204=) c.3481G= (p.Glu1161=) c.3613G= (p.Glu1205=) n.285C= | |
6 | g.33446650G>T | CA363637163 | SYNGAP1,SYNGAP1-AS1 | c.3400G>T (p.Glu1134Ter) c.3658G>T (p.Glu1220Ter) c.3610G>T (p.Glu1204Ter) c.3481G>T (p.Glu1161Ter) c.3613G>T (p.Glu1205Ter) n.285C>A | dbSNP |
6 | g.33446651A>C | CA363637169 | SYNGAP1,SYNGAP1-AS1 | c.3401A>C (p.Glu1134Ala) c.3659A>C (p.Glu1220Ala) c.3611A>C (p.Glu1204Ala) c.3482A>C (p.Glu1161Ala) c.3614A>C (p.Glu1205Ala) n.284T>G | |
6 | g.33446651A>G | CA363637172 | SYNGAP1,SYNGAP1-AS1 | c.3401A>G (p.Glu1134Gly) c.3659A>G (p.Glu1220Gly) c.3611A>G (p.Glu1204Gly) c.3482A>G (p.Glu1161Gly) c.3614A>G (p.Glu1205Gly) n.284T>C | |
6 | g.33446651A>T | CA363637173 | SYNGAP1,SYNGAP1-AS1 | c.3401A>T (p.Glu1134Val) c.3659A>T (p.Glu1220Val) c.3611A>T (p.Glu1204Val) c.3482A>T (p.Glu1161Val) c.3614A>T (p.Glu1205Val) n.284T>A | |
6 | g.33446652G>A | CA449839653 | SYNGAP1,SYNGAP1-AS1 | c.3402G>A (p.Glu1134=) c.3660G>A (p.Glu1220=) c.3612G>A (p.Glu1204=) c.3483G>A (p.Glu1161=) c.3615G>A (p.Glu1205=) n.283C>T | ClinVar dbSNP |
6 | g.33446652G>C | CA363637174 | SYNGAP1,SYNGAP1-AS1 | c.3402G>C (p.Glu1134Asp) c.3660G>C (p.Glu1220Asp) c.3612G>C (p.Glu1204Asp) c.3483G>C (p.Glu1161Asp) c.3615G>C (p.Glu1205Asp) n.283C>G | |
6 | g.33446652G>T | CA363637176 | SYNGAP1,SYNGAP1-AS1 | c.3402G>T (p.Glu1134Asp) c.3660G>T (p.Glu1220Asp) c.3612G>T (p.Glu1204Asp) c.3483G>T (p.Glu1161Asp) c.3615G>T (p.Glu1205Asp) n.283C>A | |
6 | g.33446653C>A | CA449839655 | SYNGAP1,SYNGAP1-AS1 | c.3403C>A (p.Arg1135=) c.3661C>A (p.Arg1221=) c.3613C>A (p.Arg1205=) c.3484C>A (p.Arg1162=) c.3616C>A (p.Arg1206=) n.282G>T | |
6 | g.33446653C>G | CA363637179 | SYNGAP1,SYNGAP1-AS1 | c.3403C>G (p.Arg1135Gly) c.3661C>G (p.Arg1221Gly) c.3613C>G (p.Arg1205Gly) c.3484C>G (p.Arg1162Gly) c.3616C>G (p.Arg1206Gly) n.282G>C | |
6 | g.33446653C>T | CA363637182 | SYNGAP1,SYNGAP1-AS1 | c.3403C>T (p.Arg1135Trp) c.3661C>T (p.Arg1221Trp) c.3613C>T (p.Arg1205Trp) c.3484C>T (p.Arg1162Trp) c.3616C>T (p.Arg1206Trp) n.282G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33446654G>A | CA137075371 | SYNGAP1,SYNGAP1-AS1 | c.3404G>A (p.Arg1135Gln) c.3662G>A (p.Arg1221Gln) c.3614G>A (p.Arg1205Gln) c.3485G>A (p.Arg1162Gln) c.3617G>A (p.Arg1206Gln) n.281C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33446654G>C | CA363637185 | SYNGAP1,SYNGAP1-AS1 | c.3404G>C (p.Arg1135Pro) c.3662G>C (p.Arg1221Pro) c.3614G>C (p.Arg1205Pro) c.3485G>C (p.Arg1162Pro) c.3617G>C (p.Arg1206Pro) n.281C>G | |
6 | g.33446654G= | CA1620016915 | SYNGAP1,SYNGAP1-AS1 | c.3404G= (p.Arg1135=) c.3662G= (p.Arg1221=) c.3614G= (p.Arg1205=) c.3485G= (p.Arg1162=) c.3617G= (p.Arg1206=) n.281C= | |
6 | g.33446654G>T | CA363637188 | SYNGAP1,SYNGAP1-AS1 | c.3404G>T (p.Arg1135Leu) c.3662G>T (p.Arg1221Leu) c.3614G>T (p.Arg1205Leu) c.3485G>T (p.Arg1162Leu) c.3617G>T (p.Arg1206Leu) n.281C>A | |
6 | g.33446655G>A | CA449839657 | SYNGAP1,SYNGAP1-AS1 | c.3405G>A (p.Arg1135=) c.3663G>A (p.Arg1221=) c.3615G>A (p.Arg1205=) c.3486G>A (p.Arg1162=) c.3618G>A (p.Arg1206=) n.280C>T | |
6 | g.33446655G>C | CA449839659 | SYNGAP1,SYNGAP1-AS1 | c.3405G>C (p.Arg1135=) c.3663G>C (p.Arg1221=) c.3615G>C (p.Arg1205=) c.3486G>C (p.Arg1162=) c.3618G>C (p.Arg1206=) n.280C>G | |
6 | g.33446655G>T | CA449839658 | SYNGAP1,SYNGAP1-AS1 | c.3405G>T (p.Arg1135=) c.3663G>T (p.Arg1221=) c.3615G>T (p.Arg1205=) c.3486G>T (p.Arg1162=) c.3618G>T (p.Arg1206=) n.280C>A | |
6 | g.33446656A= | CA1620016920 | SYNGAP1,SYNGAP1-AS1 | c.3406A= (p.Arg1136=) c.3664A= (p.Arg1222=) c.3616A= (p.Arg1206=) c.3487A= (p.Arg1163=) c.3619A= (p.Arg1207=) n.279T= | |
6 | g.33446656A>C | CA449839661 | SYNGAP1,SYNGAP1-AS1 | c.3406A>C (p.Arg1136=) c.3664A>C (p.Arg1222=) c.3616A>C (p.Arg1206=) c.3487A>C (p.Arg1163=) c.3619A>C (p.Arg1207=) n.279T>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33446656A>G | CA363637189 | SYNGAP1,SYNGAP1-AS1 | c.3406A>G (p.Arg1136Gly) c.3664A>G (p.Arg1222Gly) c.3616A>G (p.Arg1206Gly) c.3487A>G (p.Arg1163Gly) c.3619A>G (p.Arg1207Gly) n.279T>C | |
6 | g.33446656A>T | CA363637190 | SYNGAP1,SYNGAP1-AS1 | c.3406A>T (p.Arg1136Trp) c.3664A>T (p.Arg1222Trp) c.3616A>T (p.Arg1206Trp) c.3487A>T (p.Arg1163Trp) c.3619A>T (p.Arg1207Trp) n.279T>A | COSMIC COSMIC |
6 | g.33446657G>A | CA363637191 | SYNGAP1,SYNGAP1-AS1 | c.3407G>A (p.Arg1136Lys) c.3665G>A (p.Arg1222Lys) c.3617G>A (p.Arg1206Lys) c.3488G>A (p.Arg1163Lys) c.3620G>A (p.Arg1207Lys) n.278C>T | |
6 | g.33446657G>C | CA363637193 | SYNGAP1,SYNGAP1-AS1 | c.3407G>C (p.Arg1136Thr) c.3665G>C (p.Arg1222Thr) c.3617G>C (p.Arg1206Thr) c.3488G>C (p.Arg1163Thr) c.3620G>C (p.Arg1207Thr) n.278C>G | |
6 | g.33446657G>T | CA363637192 | SYNGAP1,SYNGAP1-AS1 | c.3407G>T (p.Arg1136Met) c.3665G>T (p.Arg1222Met) c.3617G>T (p.Arg1206Met) c.3488G>T (p.Arg1163Met) c.3620G>T (p.Arg1207Met) n.278C>A | |
6 | g.33446657_33446661dup | CA1139659354 | SYNGAP1,SYNGAP1-AS1 | c.3407_3411dup (p.Leu1138GlyfsTer13) c.3665_3669dup (p.Leu1224GlyfsTer13) c.3617_3621dup (p.Leu1208GlyfsTer13) c.3488_3492dup (p.Leu1165GlyfsTer13) c.3620_3624dup (p.Leu1209GlyfsTer13) n.274_278dup | ClinVar dbSNP |
6 | g.33446658G>A | CA449839662 | SYNGAP1,SYNGAP1-AS1 | c.3408G>A (p.Arg1136=) c.3666G>A (p.Arg1222=) c.3618G>A (p.Arg1206=) c.3489G>A (p.Arg1163=) c.3621G>A (p.Arg1207=) n.277C>T | |
6 | g.33446658G>C | CA363637195 | SYNGAP1,SYNGAP1-AS1 | c.3408G>C (p.Arg1136Ser) c.3666G>C (p.Arg1222Ser) c.3618G>C (p.Arg1206Ser) c.3489G>C (p.Arg1163Ser) c.3621G>C (p.Arg1207Ser) n.277C>G | |
6 | g.33446658G>T | CA363637196 | SYNGAP1,SYNGAP1-AS1 | c.3408G>T (p.Arg1136Ser) c.3666G>T (p.Arg1222Ser) c.3618G>T (p.Arg1206Ser) c.3489G>T (p.Arg1163Ser) c.3621G>T (p.Arg1207Ser) n.277C>A | |
6 | g.33446659C>A | CA363637197 | SYNGAP1,SYNGAP1-AS1 | c.3409C>A (p.Leu1137Met) c.3667C>A (p.Leu1223Met) c.3619C>A (p.Leu1207Met) c.3490C>A (p.Leu1164Met) c.3622C>A (p.Leu1208Met) n.276G>T | dbSNP |
6 | g.33446659C>G | CA363637199 | SYNGAP1,SYNGAP1-AS1 | c.3409C>G (p.Leu1137Val) c.3667C>G (p.Leu1223Val) c.3619C>G (p.Leu1207Val) c.3490C>G (p.Leu1164Val) c.3622C>G (p.Leu1208Val) n.276G>C | |
6 | g.33446659C>T | CA449839663 | SYNGAP1,SYNGAP1-AS1 | c.3409C>T (p.Leu1137=) c.3667C>T (p.Leu1223=) c.3619C>T (p.Leu1207=) c.3490C>T (p.Leu1164=) c.3622C>T (p.Leu1208=) n.276G>A | gnomAD v4 |
6 | g.33446660T>A | CA363637201 | SYNGAP1,SYNGAP1-AS1 | c.3410T>A (p.Leu1137Gln) c.3668T>A (p.Leu1223Gln) c.3620T>A (p.Leu1207Gln) c.3491T>A (p.Leu1164Gln) c.3623T>A (p.Leu1208Gln) n.275A>T | |
6 | g.33446660T>C | CA363637204 | SYNGAP1,SYNGAP1-AS1 | c.3410T>C (p.Leu1137Pro) c.3668T>C (p.Leu1223Pro) c.3620T>C (p.Leu1207Pro) c.3491T>C (p.Leu1164Pro) c.3623T>C (p.Leu1208Pro) n.275A>G | |
6 | g.33446660T>G | CA363637206 | SYNGAP1,SYNGAP1-AS1 | c.3410T>G (p.Leu1137Arg) c.3668T>G (p.Leu1223Arg) c.3620T>G (p.Leu1207Arg) c.3491T>G (p.Leu1164Arg) c.3623T>G (p.Leu1208Arg) n.275A>C | |
6 | g.33446661G>A | CA449839664 | SYNGAP1,SYNGAP1-AS1 | c.3411G>A (p.Leu1137=) c.3669G>A (p.Leu1223=) c.3621G>A (p.Leu1207=) c.3492G>A (p.Leu1164=) c.3624G>A (p.Leu1208=) n.274C>T | |
6 | g.33446661G>C | CA449839665 | SYNGAP1,SYNGAP1-AS1 | c.3411G>C (p.Leu1137=) c.3669G>C (p.Leu1223=) c.3621G>C (p.Leu1207=) c.3492G>C (p.Leu1164=) c.3624G>C (p.Leu1208=) n.274C>G | |
6 | g.33446661G>T | CA449839666 | SYNGAP1,SYNGAP1-AS1 | c.3411G>T (p.Leu1137=) c.3669G>T (p.Leu1223=) c.3621G>T (p.Leu1207=) c.3492G>T (p.Leu1164=) c.3624G>T (p.Leu1208=) n.274C>A | |
6 | g.33446662C>A | CA363637208 | SYNGAP1,SYNGAP1-AS1 | c.3412C>A (p.Leu1138Met) c.3670C>A (p.Leu1224Met) c.3622C>A (p.Leu1208Met) c.3493C>A (p.Leu1165Met) c.3625C>A (p.Leu1209Met) n.273G>T | |
6 | g.33446662C>G | CA363637209 | SYNGAP1,SYNGAP1-AS1 | c.3412C>G (p.Leu1138Val) c.3670C>G (p.Leu1224Val) c.3622C>G (p.Leu1208Val) c.3493C>G (p.Leu1165Val) c.3625C>G (p.Leu1209Val) n.273G>C | |
6 | g.33446662C>T | CA449839667 | SYNGAP1,SYNGAP1-AS1 | c.3412C>T (p.Leu1138=) c.3670C>T (p.Leu1224=) c.3622C>T (p.Leu1208=) c.3493C>T (p.Leu1165=) c.3625C>T (p.Leu1209=) n.273G>A | |
6 | g.33446663T>A | CA363637213 | SYNGAP1,SYNGAP1-AS1 | c.3413T>A (p.Leu1138Gln) c.3671T>A (p.Leu1224Gln) c.3623T>A (p.Leu1208Gln) c.3494T>A (p.Leu1165Gln) c.3626T>A (p.Leu1209Gln) n.272A>T | |
6 | g.33446663T>C | CA363637216 | SYNGAP1,SYNGAP1-AS1 | c.3413T>C (p.Leu1138Pro) c.3671T>C (p.Leu1224Pro) c.3623T>C (p.Leu1208Pro) c.3494T>C (p.Leu1165Pro) c.3626T>C (p.Leu1209Pro) n.272A>G | |
6 | g.33446663T>G | CA363637217 | SYNGAP1,SYNGAP1-AS1 | c.3413T>G (p.Leu1138Arg) c.3671T>G (p.Leu1224Arg) c.3623T>G (p.Leu1208Arg) c.3494T>G (p.Leu1165Arg) c.3626T>G (p.Leu1209Arg) n.272A>C | gnomAD v4 |
6 | g.33446664del | CA2499218233 | SYNGAP1,SYNGAP1-AS1 | c.3414del (p.Ser1139ProfsTer10) c.3672del (p.Ser1225ProfsTer10) c.3624del (p.Ser1209ProfsTer10) c.3495del (p.Ser1166ProfsTer10) c.3627del (p.Ser1210ProfsTer10) n.271del | ClinVar dbSNP |
6 | g.33446664G>A | CA449839668 | SYNGAP1,SYNGAP1-AS1 | c.3414G>A (p.Leu1138=) c.3672G>A (p.Leu1224=) c.3624G>A (p.Leu1208=) c.3495G>A (p.Leu1165=) c.3627G>A (p.Leu1209=) n.271C>T | |
6 | g.33446664G>C | CA449839669 | SYNGAP1,SYNGAP1-AS1 | c.3414G>C (p.Leu1138=) c.3672G>C (p.Leu1224=) c.3624G>C (p.Leu1208=) c.3495G>C (p.Leu1165=) c.3627G>C (p.Leu1209=) n.271C>G | |
6 | g.33446664G>T | CA449839670 | SYNGAP1,SYNGAP1-AS1 | c.3414G>T (p.Leu1138=) c.3672G>T (p.Leu1224=) c.3624G>T (p.Leu1208=) c.3495G>T (p.Leu1165=) c.3627G>T (p.Leu1209=) n.271C>A | |
6 | g.33446665T>A | CA363637220 | SYNGAP1,SYNGAP1-AS1 | c.3415T>A (p.Ser1139Thr) c.3673T>A (p.Ser1225Thr) c.3625T>A (p.Ser1209Thr) c.3496T>A (p.Ser1166Thr) c.3628T>A (p.Ser1210Thr) n.270A>T | |
6 | g.33446665T>C | CA363637222 | SYNGAP1,SYNGAP1-AS1 | c.3415T>C (p.Ser1139Pro) c.3673T>C (p.Ser1225Pro) c.3625T>C (p.Ser1209Pro) c.3496T>C (p.Ser1166Pro) c.3628T>C (p.Ser1210Pro) n.270A>G | |
6 | g.33446665T>G | CA363637226 | SYNGAP1,SYNGAP1-AS1 | c.3415T>G (p.Ser1139Ala) c.3673T>G (p.Ser1225Ala) c.3625T>G (p.Ser1209Ala) c.3496T>G (p.Ser1166Ala) c.3628T>G (p.Ser1210Ala) n.270A>C | |
6 | g.33446666C>A | CA363637236 | SYNGAP1,SYNGAP1-AS1 | c.3416C>A (p.Ser1139Tyr) c.3674C>A (p.Ser1225Tyr) c.3626C>A (p.Ser1209Tyr) c.3497C>A (p.Ser1166Tyr) c.3629C>A (p.Ser1210Tyr) n.269G>T | |
6 | g.33446666C>G | CA363637230 | SYNGAP1,SYNGAP1-AS1 | c.3416C>G (p.Ser1139Cys) c.3674C>G (p.Ser1225Cys) c.3626C>G (p.Ser1209Cys) c.3497C>G (p.Ser1166Cys) c.3629C>G (p.Ser1210Cys) n.269G>C | |
6 | g.33446666C>T | CA363637232 | SYNGAP1,SYNGAP1-AS1 | c.3416C>T (p.Ser1139Phe) c.3674C>T (p.Ser1225Phe) c.3626C>T (p.Ser1209Phe) c.3497C>T (p.Ser1166Phe) c.3629C>T (p.Ser1210Phe) n.269G>A | |
6 | g.33446667C>A | CA449839671 | SYNGAP1,SYNGAP1-AS1 | c.3417C>A (p.Ser1139=) c.3675C>A (p.Ser1225=) c.3627C>A (p.Ser1209=) c.3498C>A (p.Ser1166=) c.3630C>A (p.Ser1210=) n.268G>T | |
6 | g.33446667C= | CA1620016927 | SYNGAP1,SYNGAP1-AS1 | c.3417C= (p.Ser1139=) c.3675C= (p.Ser1225=) c.3627C= (p.Ser1209=) c.3498C= (p.Ser1166=) c.3630C= (p.Ser1210=) n.268G= | |
6 | g.33446667C>G | CA449839672 | SYNGAP1,SYNGAP1-AS1 | c.3417C>G (p.Ser1139=) c.3675C>G (p.Ser1225=) c.3627C>G (p.Ser1209=) c.3498C>G (p.Ser1166=) c.3630C>G (p.Ser1210=) n.268G>C | |
6 | g.33446667C>T | CA449839673 | SYNGAP1,SYNGAP1-AS1 | c.3417C>T (p.Ser1139=) c.3675C>T (p.Ser1225=) c.3627C>T (p.Ser1209=) c.3498C>T (p.Ser1166=) c.3630C>T (p.Ser1210=) n.268G>A | dbSNP gnomAD v4 |
6 | g.33446668C>A | CA363637240 | SYNGAP1,SYNGAP1-AS1 | c.3418C>A (p.Gln1140Lys) c.3676C>A (p.Gln1226Lys) c.3628C>A (p.Gln1210Lys) c.3499C>A (p.Gln1167Lys) c.3631C>A (p.Gln1211Lys) n.267G>T | |
6 | g.33446668C= | CA1620016929 | SYNGAP1,SYNGAP1-AS1 | c.3418C= (p.Gln1140=) c.3676C= (p.Gln1226=) c.3628C= (p.Gln1210=) c.3499C= (p.Gln1167=) c.3631C= (p.Gln1211=) n.267G= | |
6 | g.33446668C>G | CA363637243 | SYNGAP1,SYNGAP1-AS1 | c.3418C>G (p.Gln1140Glu) c.3676C>G (p.Gln1226Glu) c.3628C>G (p.Gln1210Glu) c.3499C>G (p.Gln1167Glu) c.3631C>G (p.Gln1211Glu) n.267G>C | |
6 | g.33446668C>T | CA363637246 | SYNGAP1,SYNGAP1-AS1 | c.3418C>T (p.Gln1140Ter) c.3676C>T (p.Gln1226Ter) c.3628C>T (p.Gln1210Ter) c.3499C>T (p.Gln1167Ter) c.3631C>T (p.Gln1211Ter) n.267G>A | dbSNP |
6 | g.33446669A>C | CA363637249 | SYNGAP1,SYNGAP1-AS1 | c.3419A>C (p.Gln1140Pro) c.3677A>C (p.Gln1226Pro) c.3629A>C (p.Gln1210Pro) c.3500A>C (p.Gln1167Pro) c.3632A>C (p.Gln1211Pro) n.266T>G | |
6 | g.33446669A>G | CA363637251 | SYNGAP1,SYNGAP1-AS1 | c.3419A>G (p.Gln1140Arg) c.3677A>G (p.Gln1226Arg) c.3629A>G (p.Gln1210Arg) c.3500A>G (p.Gln1167Arg) c.3632A>G (p.Gln1211Arg) n.266T>C | |
6 | g.33446669A>T | CA363637255 | SYNGAP1,SYNGAP1-AS1 | c.3419A>T (p.Gln1140Leu) c.3677A>T (p.Gln1226Leu) c.3629A>T (p.Gln1210Leu) c.3500A>T (p.Gln1167Leu) c.3632A>T (p.Gln1211Leu) n.266T>A | |
6 | g.33446670G>A | CA449839674 | SYNGAP1,SYNGAP1-AS1 | c.3420G>A (p.Gln1140=) c.3678G>A (p.Gln1226=) c.3630G>A (p.Gln1210=) c.3501G>A (p.Gln1167=) c.3633G>A (p.Gln1211=) n.265C>T | dbSNP |
6 | g.33446670G>C | CA363637258 | SYNGAP1,SYNGAP1-AS1 | c.3420G>C (p.Gln1140His) c.3678G>C (p.Gln1226His) c.3630G>C (p.Gln1210His) c.3501G>C (p.Gln1167His) c.3633G>C (p.Gln1211His) n.265C>G | |
6 | g.33446670G= | CA1620016936 | SYNGAP1,SYNGAP1-AS1 | c.3420G= (p.Gln1140=) c.3678G= (p.Gln1226=) c.3630G= (p.Gln1210=) c.3501G= (p.Gln1167=) c.3633G= (p.Gln1211=) n.265C= | |
6 | g.33446670G>T | CA363637265 | SYNGAP1,SYNGAP1-AS1 | c.3420G>T (p.Gln1140His) c.3678G>T (p.Gln1226His) c.3630G>T (p.Gln1210His) c.3501G>T (p.Gln1167His) c.3633G>T (p.Gln1211His) n.265C>A | |
6 | g.33446671G>A | CA363637268 | SYNGAP1,SYNGAP1-AS1 | c.3421G>A (p.Glu1141Lys) c.3679G>A (p.Glu1227Lys) c.3631G>A (p.Glu1211Lys) c.3502G>A (p.Glu1168Lys) c.3634G>A (p.Glu1212Lys) n.264C>T | |
6 | g.33446671G>C | CA363637271 | SYNGAP1,SYNGAP1-AS1 | c.3421G>C (p.Glu1141Gln) c.3679G>C (p.Glu1227Gln) c.3631G>C (p.Glu1211Gln) c.3502G>C (p.Glu1168Gln) c.3634G>C (p.Glu1212Gln) n.264C>G | |
6 | g.33446671G= | CA1620016939 | SYNGAP1,SYNGAP1-AS1 | c.3421G= (p.Glu1141=) c.3679G= (p.Glu1227=) c.3631G= (p.Glu1211=) c.3502G= (p.Glu1168=) c.3634G= (p.Glu1212=) n.264C= | |
6 | g.33446671G>T | CA363637273 | SYNGAP1,SYNGAP1-AS1 | c.3421G>T (p.Glu1141Ter) c.3679G>T (p.Glu1227Ter) c.3631G>T (p.Glu1211Ter) c.3502G>T (p.Glu1168Ter) c.3634G>T (p.Glu1212Ter) n.264C>A | dbSNP |
6 | g.33446672A>C | CA363637279 | SYNGAP1,SYNGAP1-AS1 | c.3422A>C (p.Glu1141Ala) c.3680A>C (p.Glu1227Ala) c.3632A>C (p.Glu1211Ala) c.3503A>C (p.Glu1168Ala) c.3635A>C (p.Glu1212Ala) n.263T>G | |
6 | g.33446672A>G | CA363637277 | SYNGAP1,SYNGAP1-AS1 | c.3422A>G (p.Glu1141Gly) c.3680A>G (p.Glu1227Gly) c.3632A>G (p.Glu1211Gly) c.3503A>G (p.Glu1168Gly) c.3635A>G (p.Glu1212Gly) n.263T>C | |
6 | g.33446672A>T | CA363637275 | SYNGAP1,SYNGAP1-AS1 | c.3422A>T (p.Glu1141Val) c.3680A>T (p.Glu1227Val) c.3632A>T (p.Glu1211Val) c.3503A>T (p.Glu1168Val) c.3635A>T (p.Glu1212Val) n.263T>A | |
6 | g.33446673del | CA2739272946 | SYNGAP1,SYNGAP1-AS1 | c.3423del (p.Glu1142AsnfsTer7) c.3681del (p.Glu1228AsnfsTer7) c.3633del (p.Glu1212AsnfsTer7) c.3504del (p.Glu1169AsnfsTer7) c.3636del (p.Glu1213AsnfsTer7) n.263del | ClinVar |
6 | g.33446673A>C | CA363637282 | SYNGAP1,SYNGAP1-AS1 | c.3423A>C (p.Glu1141Asp) c.3681A>C (p.Glu1227Asp) c.3633A>C (p.Glu1211Asp) c.3504A>C (p.Glu1168Asp) c.3636A>C (p.Glu1212Asp) n.262T>G | |
6 | g.33446673A>G | CA449839675 | SYNGAP1,SYNGAP1-AS1 | c.3423A>G (p.Glu1141=) c.3681A>G (p.Glu1227=) c.3633A>G (p.Glu1211=) c.3504A>G (p.Glu1168=) c.3636A>G (p.Glu1212=) n.262T>C | ClinVar dbSNP |
6 | g.33446673A>T | CA363637284 | SYNGAP1,SYNGAP1-AS1 | c.3423A>T (p.Glu1141Asp) c.3681A>T (p.Glu1227Asp) c.3633A>T (p.Glu1211Asp) c.3504A>T (p.Glu1168Asp) c.3636A>T (p.Glu1212Asp) n.262T>A | |
6 | g.33446674G>A | CA363637285 | SYNGAP1,SYNGAP1-AS1 | c.3424G>A (p.Glu1142Lys) c.3682G>A (p.Glu1228Lys) c.3634G>A (p.Glu1212Lys) c.3505G>A (p.Glu1169Lys) c.3637G>A (p.Glu1213Lys) n.261C>T | |
6 | g.33446674G>C | CA363637286 | SYNGAP1,SYNGAP1-AS1 | c.3424G>C (p.Glu1142Gln) c.3682G>C (p.Glu1228Gln) c.3634G>C (p.Glu1212Gln) c.3505G>C (p.Glu1169Gln) c.3637G>C (p.Glu1213Gln) n.261C>G | |
6 | g.33446674G= | CA1620016942 | SYNGAP1,SYNGAP1-AS1 | c.3424G= (p.Glu1142=) c.3682G= (p.Glu1228=) c.3634G= (p.Glu1212=) c.3505G= (p.Glu1169=) c.3637G= (p.Glu1213=) n.261C= | |
6 | g.33446674G>T | CA363637287 | SYNGAP1,SYNGAP1-AS1 | c.3424G>T (p.Glu1142Ter) c.3682G>T (p.Glu1228Ter) c.3634G>T (p.Glu1212Ter) c.3505G>T (p.Glu1169Ter) c.3637G>T (p.Glu1213Ter) n.261C>A | dbSNP |
6 | g.33446675A>C | CA363637289 | SYNGAP1,SYNGAP1-AS1 | c.3425A>C (p.Glu1142Ala) c.3683A>C (p.Glu1228Ala) c.3635A>C (p.Glu1212Ala) c.3506A>C (p.Glu1169Ala) c.3638A>C (p.Glu1213Ala) n.260T>G | |
6 | g.33446675A>G | CA363637291 | SYNGAP1,SYNGAP1-AS1 | c.3425A>G (p.Glu1142Gly) c.3683A>G (p.Glu1228Gly) c.3635A>G (p.Glu1212Gly) c.3506A>G (p.Glu1169Gly) c.3638A>G (p.Glu1213Gly) n.260T>C | |
6 | g.33446675A>T | CA363637292 | SYNGAP1,SYNGAP1-AS1 | c.3425A>T (p.Glu1142Val) c.3683A>T (p.Glu1228Val) c.3635A>T (p.Glu1212Val) c.3506A>T (p.Glu1169Val) c.3638A>T (p.Glu1213Val) n.260T>A | |
6 | g.33446678_33446681del | CA658653623 | SYNGAP1,SYNGAP1-AS1 | c.3428_3431del (p.Gln1143ProfsTer5) c.3686_3689del (p.Gln1229ProfsTer5) c.3638_3641del (p.Gln1213ProfsTer5) c.3509_3512del (p.Gln1170ProfsTer5) c.3641_3644del (p.Gln1214ProfsTer5) n.257_260del | |
6 | g.33446676A>C | CA363637294 | SYNGAP1,SYNGAP1-AS1 | c.3426A>C (p.Glu1142Asp) c.3684A>C (p.Glu1228Asp) c.3636A>C (p.Glu1212Asp) c.3507A>C (p.Glu1169Asp) c.3639A>C (p.Glu1213Asp) n.259T>G | |
6 | g.33446676A>G | CA449839676 | SYNGAP1,SYNGAP1-AS1 | c.3426A>G (p.Glu1142=) c.3684A>G (p.Glu1228=) c.3636A>G (p.Glu1212=) c.3507A>G (p.Glu1169=) c.3639A>G (p.Glu1213=) n.259T>C | |
6 | g.33446676A>T | CA363637297 | SYNGAP1,SYNGAP1-AS1 | c.3426A>T (p.Glu1142Asp) c.3684A>T (p.Glu1228Asp) c.3636A>T (p.Glu1212Asp) c.3507A>T (p.Glu1169Asp) c.3639A>T (p.Glu1213Asp) n.259T>A | |
6 | g.33446677C>A | CA363637299 | SYNGAP1,SYNGAP1-AS1 | c.3427C>A (p.Gln1143Lys) c.3685C>A (p.Gln1229Lys) c.3637C>A (p.Gln1213Lys) c.3508C>A (p.Gln1170Lys) c.3640C>A (p.Gln1214Lys) n.258G>T | |
6 | g.33446677C>G | CA363637301 | SYNGAP1,SYNGAP1-AS1 | c.3427C>G (p.Gln1143Glu) c.3685C>G (p.Gln1229Glu) c.3637C>G (p.Gln1213Glu) c.3508C>G (p.Gln1170Glu) c.3640C>G (p.Gln1214Glu) n.258G>C | |
6 | g.33446677C>T | CA363637303 | SYNGAP1,SYNGAP1-AS1 | c.3427C>T (p.Gln1143Ter) c.3685C>T (p.Gln1229Ter) c.3637C>T (p.Gln1213Ter) c.3508C>T (p.Gln1170Ter) c.3640C>T (p.Gln1214Ter) n.258G>A | ClinVar dbSNP |
6 | g.33446678A>C | CA363637306 | SYNGAP1,SYNGAP1-AS1 | c.3428A>C (p.Gln1143Pro) c.3686A>C (p.Gln1229Pro) c.3638A>C (p.Gln1213Pro) c.3509A>C (p.Gln1170Pro) c.3641A>C (p.Gln1214Pro) n.257T>G | ClinVar dbSNP |
6 | g.33446678A>G | CA363637304 | SYNGAP1,SYNGAP1-AS1 | c.3428A>G (p.Gln1143Arg) c.3686A>G (p.Gln1229Arg) c.3638A>G (p.Gln1213Arg) c.3509A>G (p.Gln1170Arg) c.3641A>G (p.Gln1214Arg) n.257T>C | |
6 | g.33446678A>T | CA363637305 | SYNGAP1,SYNGAP1-AS1 | c.3428A>T (p.Gln1143Leu) c.3686A>T (p.Gln1229Leu) c.3638A>T (p.Gln1213Leu) c.3509A>T (p.Gln1170Leu) c.3641A>T (p.Gln1214Leu) n.257T>A | |
6 | g.33446679A= | CA1620016945 | SYNGAP1,SYNGAP1-AS1 | c.3429A= (p.Gln1143=) c.3687A= (p.Gln1229=) c.3639A= (p.Gln1213=) c.3510A= (p.Gln1170=) c.3642A= (p.Gln1214=) n.256T= | |
6 | g.33446679A>C | CA363637308 | SYNGAP1,SYNGAP1-AS1 | c.3429A>C (p.Gln1143His) c.3687A>C (p.Gln1229His) c.3639A>C (p.Gln1213His) c.3510A>C (p.Gln1170His) c.3642A>C (p.Gln1214His) n.256T>G | COSMIC COSMIC |
6 | g.33446679A>G | CA3759084 | SYNGAP1,SYNGAP1-AS1 | c.3429A>G (p.Gln1143=) c.3687A>G (p.Gln1229=) c.3639A>G (p.Gln1213=) c.3510A>G (p.Gln1170=) c.3642A>G (p.Gln1214=) n.256T>C | dbSNP ExAC gnomAD v2 |
6 | g.33446679A>T | CA363637311 | SYNGAP1,SYNGAP1-AS1 | c.3429A>T (p.Gln1143His) c.3687A>T (p.Gln1229His) c.3639A>T (p.Gln1213His) c.3510A>T (p.Gln1170His) c.3642A>T (p.Gln1214His) n.256T>A | |
6 | g.33446680A>C | CA363637313 | SYNGAP1,SYNGAP1-AS1 | c.3430A>C (p.Thr1144Pro) c.3688A>C (p.Thr1230Pro) c.3640A>C (p.Thr1214Pro) c.3511A>C (p.Thr1171Pro) c.3643A>C (p.Thr1215Pro) n.255T>G | |
6 | g.33446680A>G | CA363637316 | SYNGAP1,SYNGAP1-AS1 | c.3430A>G (p.Thr1144Ala) c.3688A>G (p.Thr1230Ala) c.3640A>G (p.Thr1214Ala) c.3511A>G (p.Thr1171Ala) c.3643A>G (p.Thr1215Ala) n.255T>C | |
6 | g.33446680A>T | CA363637318 | SYNGAP1,SYNGAP1-AS1 | c.3430A>T (p.Thr1144Ser) c.3688A>T (p.Thr1230Ser) c.3640A>T (p.Thr1214Ser) c.3511A>T (p.Thr1171Ser) c.3643A>T (p.Thr1215Ser) n.255T>A | |
6 | g.33446681C>A | CA363637321 | SYNGAP1,SYNGAP1-AS1 | c.3431C>A (p.Thr1144Asn) c.3689C>A (p.Thr1230Asn) c.3641C>A (p.Thr1214Asn) c.3512C>A (p.Thr1171Asn) c.3644C>A (p.Thr1215Asn) n.254G>T | |
6 | g.33446681C>G | CA363637324 | SYNGAP1,SYNGAP1-AS1 | c.3431C>G (p.Thr1144Ser) c.3689C>G (p.Thr1230Ser) c.3641C>G (p.Thr1214Ser) c.3512C>G (p.Thr1171Ser) c.3644C>G (p.Thr1215Ser) n.254G>C | |
6 | g.33446681C>T | CA363637325 | SYNGAP1,SYNGAP1-AS1 | c.3431C>T (p.Thr1144Ile) c.3689C>T (p.Thr1230Ile) c.3641C>T (p.Thr1214Ile) c.3512C>T (p.Thr1171Ile) c.3644C>T (p.Thr1215Ile) n.254G>A | |
6 | g.33446682C>A | CA449839677 | SYNGAP1,SYNGAP1-AS1 | c.3432C>A (p.Thr1144=) c.3690C>A (p.Thr1230=) c.3642C>A (p.Thr1214=) c.3513C>A (p.Thr1171=) c.3645C>A (p.Thr1215=) n.253G>T | ClinVar dbSNP |
6 | g.33446682C>G | CA449839678 | SYNGAP1,SYNGAP1-AS1 | c.3432C>G (p.Thr1144=) c.3690C>G (p.Thr1230=) c.3642C>G (p.Thr1214=) c.3513C>G (p.Thr1171=) c.3645C>G (p.Thr1215=) n.253G>C | |
6 | g.33446682C>T | CA449839679 | SYNGAP1,SYNGAP1-AS1 | c.3432C>T (p.Thr1144=) c.3690C>T (p.Thr1230=) c.3642C>T (p.Thr1214=) c.3513C>T (p.Thr1171=) c.3645C>T (p.Thr1215=) n.253G>A | dbSNP gnomAD v4 |
6 | g.33446683A>C | CA363637326 | SYNGAP1,SYNGAP1-AS1 | c.3433A>C (p.Ser1145Arg) c.3691A>C (p.Ser1231Arg) c.3643A>C (p.Ser1215Arg) c.3514A>C (p.Ser1172Arg) c.3646A>C (p.Ser1216Arg) n.252T>G | |
6 | g.33446683A>G | CA363637328 | SYNGAP1,SYNGAP1-AS1 | c.3433A>G (p.Ser1145Gly) c.3691A>G (p.Ser1231Gly) c.3643A>G (p.Ser1215Gly) c.3514A>G (p.Ser1172Gly) c.3646A>G (p.Ser1216Gly) n.252T>C | |
6 | g.33446683A>T | CA363637329 | SYNGAP1,SYNGAP1-AS1 | c.3433A>T (p.Ser1145Cys) c.3691A>T (p.Ser1231Cys) c.3643A>T (p.Ser1215Cys) c.3514A>T (p.Ser1172Cys) c.3646A>T (p.Ser1216Cys) n.252T>A | |
6 | g.33446684G>A | CA363637333 | SYNGAP1,SYNGAP1-AS1 | c.3434G>A (p.Ser1145Asn) c.3692G>A (p.Ser1231Asn) c.3644G>A (p.Ser1215Asn) c.3515G>A (p.Ser1172Asn) c.3647G>A (p.Ser1216Asn) n.251C>T | |
6 | g.33446684G>C | CA363637335 | SYNGAP1,SYNGAP1-AS1 | c.3434G>C (p.Ser1145Thr) c.3692G>C (p.Ser1231Thr) c.3644G>C (p.Ser1215Thr) c.3515G>C (p.Ser1172Thr) c.3647G>C (p.Ser1216Thr) n.251C>G | |
6 | g.33446684G>T | CA363637332 | SYNGAP1,SYNGAP1-AS1 | c.3434G>T (p.Ser1145Ile) c.3692G>T (p.Ser1231Ile) c.3644G>T (p.Ser1215Ile) c.3515G>T (p.Ser1172Ile) c.3647G>T (p.Ser1216Ile) n.251C>A |