Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.202596810G>A | CA344255742 | SYT2 | c.1207C>T (p.His403Tyr) c.1216C>T (p.His406Tyr) c.1387C>T (p.His463Tyr) c.1378C>T (p.His460Tyr) | |
1 | g.202596810G>C | CA344255743 | SYT2 | c.1207C>G (p.His403Asp) c.1216C>G (p.His406Asp) c.1387C>G (p.His463Asp) c.1378C>G (p.His460Asp) | |
1 | g.202596810G>T | CA344255744 | SYT2 | c.1207C>A (p.His403Asn) c.1216C>A (p.His406Asn) c.1387C>A (p.His463Asn) c.1378C>A (p.His460Asn) | |
1 | g.202596811C>A | CA344255747 | SYT2 | c.1206G>T (p.Trp402Cys) c.1215G>T (p.Trp405Cys) c.1386G>T (p.Trp462Cys) c.1377G>T (p.Trp459Cys) | |
1 | g.202596811C>G | CA344255746 | SYT2 | c.1206G>C (p.Trp402Cys) c.1215G>C (p.Trp405Cys) c.1386G>C (p.Trp462Cys) c.1377G>C (p.Trp459Cys) | |
1 | g.202596811C>T | CA344255745 | SYT2 | c.1206G>A (p.Trp402Ter) c.1215G>A (p.Trp405Ter) c.1386G>A (p.Trp462Ter) c.1377G>A (p.Trp459Ter) | |
1 | g.202596812C>A | CA344255748 | SYT2 | c.1205G>T (p.Trp402Leu) c.1214G>T (p.Trp405Leu) c.1385G>T (p.Trp462Leu) c.1376G>T (p.Trp459Leu) | |
1 | g.202596812C>G | CA344255749 | SYT2 | c.1205G>C (p.Trp402Ser) c.1214G>C (p.Trp405Ser) c.1385G>C (p.Trp462Ser) c.1376G>C (p.Trp459Ser) | |
1 | g.202596812C>T | CA344255750 | SYT2 | c.1205G>A (p.Trp402Ter) c.1214G>A (p.Trp405Ter) c.1385G>A (p.Trp462Ter) c.1376G>A (p.Trp459Ter) | |
1 | g.202596813A= | CA2481403119 | SYT2 | c.1204T= (p.Trp402=) c.1213T= (p.Trp405=) c.1384T= (p.Trp462=) c.1375T= (p.Trp459=) | |
1 | g.202596813A>C | CA344255751 | SYT2 | c.1204T>G (p.Trp402Gly) c.1213T>G (p.Trp405Gly) c.1384T>G (p.Trp462Gly) c.1375T>G (p.Trp459Gly) | dbSNP gnomAD v4 |
1 | g.202596813A>G | CA344255752 | SYT2 | c.1204T>C (p.Trp402Arg) c.1213T>C (p.Trp405Arg) c.1384T>C (p.Trp462Arg) c.1375T>C (p.Trp459Arg) | |
1 | g.202596813A>T | CA344255753 | SYT2 | c.1204T>A (p.Trp402Arg) c.1213T>A (p.Trp405Arg) c.1384T>A (p.Trp462Arg) c.1375T>A (p.Trp459Arg) | |
1 | g.202596814C>A | CA344255754 | SYT2 | c.1203G>T (p.Gln401His) c.1212G>T (p.Gln404His) c.1383G>T (p.Gln461His) c.1374G>T (p.Gln458His) | |
1 | g.202596814C>G | CA344255755 | SYT2 | c.1203G>C (p.Gln401His) c.1212G>C (p.Gln404His) c.1383G>C (p.Gln461His) c.1374G>C (p.Gln458His) | |
1 | g.202596814C>T | CA422578112 | SYT2 | c.1203G>A (p.Gln401=) c.1212G>A (p.Gln404=) c.1383G>A (p.Gln461=) c.1374G>A (p.Gln458=) | gnomAD v4 |
1 | g.202596815T>A | CA344255756 | SYT2 | c.1202A>T (p.Gln401Leu) c.1211A>T (p.Gln404Leu) c.1382A>T (p.Gln461Leu) c.1373A>T (p.Gln458Leu) | |
1 | g.202596815T>C | CA1333593 | SYT2 | c.1202A>G (p.Gln401Arg) c.1211A>G (p.Gln404Arg) c.1382A>G (p.Gln461Arg) c.1373A>G (p.Gln458Arg) | dbSNP ExAC gnomAD v2 |
1 | g.202596815T>G | CA344255757 | SYT2 | c.1202A>C (p.Gln401Pro) c.1211A>C (p.Gln404Pro) c.1382A>C (p.Gln461Pro) c.1373A>C (p.Gln458Pro) | |
1 | g.202596815T= | CA2481403120 | SYT2 | c.1202A= (p.Gln401=) c.1211A= (p.Gln404=) c.1382A= (p.Gln461=) c.1373A= (p.Gln458=) | |
1 | g.202596816G>A | CA344255760 | SYT2 | c.1201C>T (p.Gln401Ter) c.1210C>T (p.Gln404Ter) c.1381C>T (p.Gln461Ter) c.1372C>T (p.Gln458Ter) | |
1 | g.202596816G>C | CA344255759 | SYT2 | c.1201C>G (p.Gln401Glu) c.1210C>G (p.Gln404Glu) c.1381C>G (p.Gln461Glu) c.1372C>G (p.Gln458Glu) | gnomAD v4 |
1 | g.202596816G>T | CA344255758 | SYT2 | c.1201C>A (p.Gln401Lys) c.1210C>A (p.Gln404Lys) c.1381C>A (p.Gln461Lys) c.1372C>A (p.Gln458Lys) | |
1 | g.202596817G>A | CA422578113 | SYT2 | c.1200C>T (p.Ala400=) c.1209C>T (p.Ala403=) c.1380C>T (p.Ala460=) c.1371C>T (p.Ala457=) | |
1 | g.202596817G>C | CA422578114 | SYT2 | c.1200C>G (p.Ala400=) c.1209C>G (p.Ala403=) c.1380C>G (p.Ala460=) c.1371C>G (p.Ala457=) | |
1 | g.202596817G>T | CA422578115 | SYT2 | c.1200C>A (p.Ala400=) c.1209C>A (p.Ala403=) c.1380C>A (p.Ala460=) c.1371C>A (p.Ala457=) | |
1 | g.202596818G>A | CA344255761 | SYT2 | c.1199C>T (p.Ala400Val) c.1208C>T (p.Ala403Val) c.1379C>T (p.Ala460Val) c.1370C>T (p.Ala457Val) | gnomAD v4 |
1 | g.202596818G>C | CA344255762 | SYT2 | c.1199C>G (p.Ala400Gly) c.1208C>G (p.Ala403Gly) c.1379C>G (p.Ala460Gly) c.1370C>G (p.Ala457Gly) | |
1 | g.202596818G>T | CA344255763 | SYT2 | c.1199C>A (p.Ala400Asp) c.1208C>A (p.Ala403Asp) c.1379C>A (p.Ala460Asp) c.1370C>A (p.Ala457Asp) | |
1 | g.202596819C>A | CA344255764 | SYT2 | c.1198G>T (p.Ala400Ser) c.1207G>T (p.Ala403Ser) c.1378G>T (p.Ala460Ser) c.1369G>T (p.Ala457Ser) | |
1 | g.202596819C= | CA2481403121 | SYT2 | c.1198G= (p.Ala400=) c.1207G= (p.Ala403=) c.1378G= (p.Ala460=) c.1369G= (p.Ala457=) | |
1 | g.202596819C>G | CA344255765 | SYT2 | c.1198G>C (p.Ala400Pro) c.1207G>C (p.Ala403Pro) c.1378G>C (p.Ala460Pro) c.1369G>C (p.Ala457Pro) | |
1 | g.202596819C>T | CA344255766 | SYT2 | c.1198G>A (p.Ala400Thr) c.1207G>A (p.Ala403Thr) c.1378G>A (p.Ala460Thr) c.1369G>A (p.Ala457Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.202596820G>A | CA1333594 | SYT2 | c.1197C>T (p.Ile399=) c.1206C>T (p.Ile402=) c.1377C>T (p.Ile459=) c.1368C>T (p.Ile456=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596820G>C | CA344255767 | SYT2 | c.1197C>G (p.Ile399Met) c.1206C>G (p.Ile402Met) c.1377C>G (p.Ile459Met) c.1368C>G (p.Ile456Met) | |
1 | g.202596820G= | CA1139801908 | SYT2 | c.1197C= (p.Ile399=) c.1206C= (p.Ile402=) c.1377C= (p.Ile459=) c.1368C= (p.Ile456=) | |
1 | g.202596820G>T | CA422578116 | SYT2 | c.1197C>A (p.Ile399=) c.1206C>A (p.Ile402=) c.1377C>A (p.Ile459=) c.1368C>A (p.Ile456=) | |
1 | g.202596821A>C | CA344255768 | SYT2 | c.1196T>G (p.Ile399Ser) c.1205T>G (p.Ile402Ser) c.1376T>G (p.Ile459Ser) c.1367T>G (p.Ile456Ser) | |
1 | g.202596821A>G | CA344255769 | SYT2 | c.1196T>C (p.Ile399Thr) c.1205T>C (p.Ile402Thr) c.1376T>C (p.Ile459Thr) c.1367T>C (p.Ile456Thr) | |
1 | g.202596821A>T | CA344255770 | SYT2 | c.1196T>A (p.Ile399Asn) c.1205T>A (p.Ile402Asn) c.1376T>A (p.Ile459Asn) c.1367T>A (p.Ile456Asn) | |
1 | g.202596822T>A | CA344255773 | SYT2 | c.1195A>T (p.Ile399Phe) c.1204A>T (p.Ile402Phe) c.1375A>T (p.Ile459Phe) c.1366A>T (p.Ile456Phe) | |
1 | g.202596822T>C | CA344255772 | SYT2 | c.1195A>G (p.Ile399Val) c.1204A>G (p.Ile402Val) c.1375A>G (p.Ile459Val) c.1366A>G (p.Ile456Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.202596822T>G | CA344255771 | SYT2 | c.1195A>C (p.Ile399Leu) c.1204A>C (p.Ile402Leu) c.1375A>C (p.Ile459Leu) c.1366A>C (p.Ile456Leu) | |
1 | g.202596822T= | CA2481403122 | SYT2 | c.1195A= (p.Ile399=) c.1204A= (p.Ile402=) c.1375A= (p.Ile459=) c.1366A= (p.Ile456=) | |
1 | g.202596822_202596834delinsTGGGCCTCCGGGG | CA2481403123 | SYT2 | c.1183_1195delinsCCCCGGAGGCCCA (p.Pro395=) c.1192_1204delinsCCCCGGAGGCCCA (p.Pro398=) c.1363_1375delinsCCCCGGAGGCCCA (p.Pro455=) c.1354_1366delinsCCCCGGAGGCCCA (p.Pro452=) | |
1 | g.202596823G>A | CA422578118 | SYT2 | c.1194C>T (p.Pro398=) c.1203C>T (p.Pro401=) c.1374C>T (p.Pro458=) c.1365C>T (p.Pro455=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.202596823G>C | CA422578119 | SYT2 | c.1194C>G (p.Pro398=) c.1203C>G (p.Pro401=) c.1374C>G (p.Pro458=) c.1365C>G (p.Pro455=) | |
1 | g.202596823G= | CA2481403124 | SYT2 | c.1194C= (p.Pro398=) c.1203C= (p.Pro401=) c.1374C= (p.Pro458=) c.1365C= (p.Pro455=) | |
1 | g.202596823G>T | CA422578120 | SYT2 | c.1194C>A (p.Pro398=) c.1203C>A (p.Pro401=) c.1374C>A (p.Pro458=) c.1365C>A (p.Pro455=) | |
1 | g.202596824_202596835del | CA528129031 | SYT2 | c.1183_1194del (p.Pro395_Pro398del) c.1192_1203del (p.Pro398_Pro401del) c.1363_1374del (p.Pro455_Pro458del) c.1354_1365del (p.Pro452_Pro455del) | dbSNP gnomAD v2 |
1 | g.202596824G>A | CA344255774 | SYT2 | c.1193C>T (p.Pro398Leu) c.1202C>T (p.Pro401Leu) c.1373C>T (p.Pro458Leu) c.1364C>T (p.Pro455Leu) | |
1 | g.202596824G>C | CA344255775 | SYT2 | c.1193C>G (p.Pro398Arg) c.1202C>G (p.Pro401Arg) c.1373C>G (p.Pro458Arg) c.1364C>G (p.Pro455Arg) | |
1 | g.202596824G>T | CA344255776 | SYT2 | c.1193C>A (p.Pro398His) c.1202C>A (p.Pro401His) c.1373C>A (p.Pro458His) c.1364C>A (p.Pro455His) | |
1 | g.202596825G>A | CA344255777 | SYT2 | c.1192C>T (p.Pro398Ser) c.1201C>T (p.Pro401Ser) c.1372C>T (p.Pro458Ser) c.1363C>T (p.Pro455Ser) | |
1 | g.202596825G>C | CA344255778 | SYT2 | c.1192C>G (p.Pro398Ala) c.1201C>G (p.Pro401Ala) c.1372C>G (p.Pro458Ala) c.1363C>G (p.Pro455Ala) | |
1 | g.202596825G>T | CA344255779 | SYT2 | c.1192C>A (p.Pro398Thr) c.1201C>A (p.Pro401Thr) c.1372C>A (p.Pro458Thr) c.1363C>A (p.Pro455Thr) | |
1 | g.202596826C>A | CA344255780 | SYT2 | c.1191G>T (p.Arg397Ser) c.1200G>T (p.Arg400Ser) c.1371G>T (p.Arg457Ser) c.1362G>T (p.Arg454Ser) | |
1 | g.202596826C>G | CA344255781 | SYT2 | c.1191G>C (p.Arg397Ser) c.1200G>C (p.Arg400Ser) c.1371G>C (p.Arg457Ser) c.1362G>C (p.Arg454Ser) | |
1 | g.202596826C>T | CA422578122 | SYT2 | c.1191G>A (p.Arg397=) c.1200G>A (p.Arg400=) c.1371G>A (p.Arg457=) c.1362G>A (p.Arg454=) | |
1 | g.202596827del | CA2499214409 | SYT2 | c.1191del (p.Arg397SerfsTer?) c.1200del (p.Arg400SerfsTer?) c.1371del (p.Arg457SerfsTer?) c.1362del (p.Arg454SerfsTer?) | ClinVar dbSNP |
1 | g.202596827C>A | CA344255782 | SYT2 | c.1190G>T (p.Arg397Met) c.1199G>T (p.Arg400Met) c.1370G>T (p.Arg457Met) c.1361G>T (p.Arg454Met) | |
1 | g.202596827C>G | CA344255783 | SYT2 | c.1190G>C (p.Arg397Thr) c.1199G>C (p.Arg400Thr) c.1370G>C (p.Arg457Thr) c.1361G>C (p.Arg454Thr) | |
1 | g.202596827C>T | CA344255784 | SYT2 | c.1190G>A (p.Arg397Lys) c.1199G>A (p.Arg400Lys) c.1370G>A (p.Arg457Lys) c.1361G>A (p.Arg454Lys) | |
1 | g.202596828T>A | CA344255785 | SYT2 | c.1189A>T (p.Arg397Trp) c.1198A>T (p.Arg400Trp) c.1369A>T (p.Arg457Trp) c.1360A>T (p.Arg454Trp) | |
1 | g.202596828T>C | CA35575086 | SYT2 | c.1189A>G (p.Arg397Gly) c.1198A>G (p.Arg400Gly) c.1369A>G (p.Arg457Gly) c.1360A>G (p.Arg454Gly) | dbSNP |
1 | g.202596828T>G | CA422578124 | SYT2 | c.1189A>C (p.Arg397=) c.1198A>C (p.Arg400=) c.1369A>C (p.Arg457=) c.1360A>C (p.Arg454=) | |
1 | g.202596828T= | CA2481403125 | SYT2 | c.1189A= (p.Arg397=) c.1198A= (p.Arg400=) c.1369A= (p.Arg457=) c.1360A= (p.Arg454=) | |
1 | g.202596829C>A | CA422578126 | SYT2 | c.1188G>T (p.Arg396=) c.1197G>T (p.Arg399=) c.1368G>T (p.Arg456=) c.1359G>T (p.Arg453=) | |
1 | g.202596829C>G | CA422578128 | SYT2 | c.1188G>C (p.Arg396=) c.1197G>C (p.Arg399=) c.1368G>C (p.Arg456=) c.1359G>C (p.Arg453=) | |
1 | g.202596829C>T | CA422578129 | SYT2 | c.1188G>A (p.Arg396=) c.1197G>A (p.Arg399=) c.1368G>A (p.Arg456=) c.1359G>A (p.Arg453=) | |
1 | g.202596830C>A | CA344255786 | SYT2 | c.1187G>T (p.Arg396Leu) c.1196G>T (p.Arg399Leu) c.1367G>T (p.Arg456Leu) c.1358G>T (p.Arg453Leu) | |
1 | g.202596830C= | CA2481403126 | SYT2 | c.1187G= (p.Arg396=) c.1196G= (p.Arg399=) c.1367G= (p.Arg456=) c.1358G= (p.Arg453=) | |
1 | g.202596830C>G | CA344255787 | SYT2 | c.1187G>C (p.Arg396Pro) c.1196G>C (p.Arg399Pro) c.1367G>C (p.Arg456Pro) c.1358G>C (p.Arg453Pro) | |
1 | g.202596830C>T | CA35575090 | SYT2 | c.1187G>A (p.Arg396Gln) c.1196G>A (p.Arg399Gln) c.1367G>A (p.Arg456Gln) c.1358G>A (p.Arg453Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.202596831G>A | CA1333595 | SYT2 | c.1186C>T (p.Arg396Trp) c.1195C>T (p.Arg399Trp) c.1366C>T (p.Arg456Trp) c.1357C>T (p.Arg453Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596831G>C | CA344255788 | SYT2 | c.1186C>G (p.Arg396Gly) c.1195C>G (p.Arg399Gly) c.1366C>G (p.Arg456Gly) c.1357C>G (p.Arg453Gly) | |
1 | g.202596831G= | CA2481403127 | SYT2 | c.1186C= (p.Arg396=) c.1195C= (p.Arg399=) c.1366C= (p.Arg456=) c.1357C= (p.Arg453=) | |
1 | g.202596831G>T | CA422578130 | SYT2 | c.1186C>A (p.Arg396=) c.1195C>A (p.Arg399=) c.1366C>A (p.Arg456=) c.1357C>A (p.Arg453=) | |
1 | g.202596835del | CA2840850723 | SYT2 | c.1186del (p.Arg396GlyfsTer?) c.1195del (p.Arg399GlyfsTer?) c.1366del (p.Arg456GlyfsTer?) c.1357del (p.Arg453GlyfsTer?) | |
1 | g.202596832G>A | CA422578131 | SYT2 | c.1185C>T (p.Pro395=) c.1194C>T (p.Pro398=) c.1365C>T (p.Pro455=) c.1356C>T (p.Pro452=) | |
1 | g.202596832G>C | CA422578132 | SYT2 | c.1185C>G (p.Pro395=) c.1194C>G (p.Pro398=) c.1365C>G (p.Pro455=) c.1356C>G (p.Pro452=) | |
1 | g.202596832G>T | CA422578133 | SYT2 | c.1185C>A (p.Pro395=) c.1194C>A (p.Pro398=) c.1365C>A (p.Pro455=) c.1356C>A (p.Pro452=) | |
1 | g.202596833G>A | CA344255789 | SYT2 | c.1184C>T (p.Pro395Leu) c.1193C>T (p.Pro398Leu) c.1364C>T (p.Pro455Leu) c.1355C>T (p.Pro452Leu) | gnomAD v4 |
1 | g.202596833G>C | CA344255790 | SYT2 | c.1184C>G (p.Pro395Arg) c.1193C>G (p.Pro398Arg) c.1364C>G (p.Pro455Arg) c.1355C>G (p.Pro452Arg) | |
1 | g.202596833G>T | CA344255791 | SYT2 | c.1184C>A (p.Pro395His) c.1193C>A (p.Pro398His) c.1364C>A (p.Pro455His) c.1355C>A (p.Pro452His) | |
1 | g.202596834G>A | CA344255792 | SYT2 | c.1183C>T (p.Pro395Ser) c.1192C>T (p.Pro398Ser) c.1363C>T (p.Pro455Ser) c.1354C>T (p.Pro452Ser) | gnomAD v4 |
1 | g.202596834G>C | CA344255793 | SYT2 | c.1183C>G (p.Pro395Ala) c.1192C>G (p.Pro398Ala) c.1363C>G (p.Pro455Ala) c.1354C>G (p.Pro452Ala) | |
1 | g.202596834G= | CA2481403128 | SYT2 | c.1183C= (p.Pro395=) c.1192C= (p.Pro398=) c.1363C= (p.Pro455=) c.1354C= (p.Pro452=) | |
1 | g.202596834G>T | CA1333596 | SYT2 | c.1183C>A (p.Pro395Thr) c.1192C>A (p.Pro398Thr) c.1363C>A (p.Pro455Thr) c.1354C>A (p.Pro452Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596835G>A | CA422578134 | SYT2 | c.1182C>T (p.Asn394=) c.1191C>T (p.Asn397=) c.1362C>T (p.Asn454=) c.1353C>T (p.Asn451=) | dbSNP gnomAD v4 |
1 | g.202596835G>C | CA344255794 | SYT2 | c.1182C>G (p.Asn394Lys) c.1191C>G (p.Asn397Lys) c.1362C>G (p.Asn454Lys) c.1353C>G (p.Asn451Lys) | |
1 | g.202596835G= | CA2481403129 | SYT2 | c.1182C= (p.Asn394=) c.1191C= (p.Asn397=) c.1362C= (p.Asn454=) c.1353C= (p.Asn451=) | |
1 | g.202596835G>T | CA344255795 | SYT2 | c.1182C>A (p.Asn394Lys) c.1191C>A (p.Asn397Lys) c.1362C>A (p.Asn454Lys) c.1353C>A (p.Asn451Lys) | |
1 | g.202596836T>A | CA344255796 | SYT2 | c.1181A>T (p.Asn394Ile) c.1190A>T (p.Asn397Ile) c.1361A>T (p.Asn454Ile) c.1352A>T (p.Asn451Ile) | |
1 | g.202596836T>C | CA344255797 | SYT2 | c.1181A>G (p.Asn394Ser) c.1190A>G (p.Asn397Ser) c.1361A>G (p.Asn454Ser) c.1352A>G (p.Asn451Ser) | COSMIC |
1 | g.202596836T>G | CA344255798 | SYT2 | c.1181A>C (p.Asn394Thr) c.1190A>C (p.Asn397Thr) c.1361A>C (p.Asn454Thr) c.1352A>C (p.Asn451Thr) | |
1 | g.202596837T>A | CA344255801 | SYT2 | c.1180A>T (p.Asn394Tyr) c.1189A>T (p.Asn397Tyr) c.1360A>T (p.Asn454Tyr) c.1351A>T (p.Asn451Tyr) | |
1 | g.202596837T>C | CA344255799 | SYT2 | c.1180A>G (p.Asn394Asp) c.1189A>G (p.Asn397Asp) c.1360A>G (p.Asn454Asp) c.1351A>G (p.Asn451Asp) | |
1 | g.202596837T>G | CA344255800 | SYT2 | c.1180A>C (p.Asn394His) c.1189A>C (p.Asn397His) c.1360A>C (p.Asn454His) c.1351A>C (p.Asn451His) | dbSNP |
1 | g.202596837T= | CA2481403130 | SYT2 | c.1180A= (p.Asn394=) c.1189A= (p.Asn397=) c.1360A= (p.Asn454=) c.1351A= (p.Asn451=) | |
1 | g.202596838G>A | CA422578135 | SYT2 | c.1179C>T (p.Ala393=) c.1188C>T (p.Ala396=) c.1359C>T (p.Ala453=) c.1350C>T (p.Ala450=) | |
1 | g.202596838G>C | CA422578136 | SYT2 | c.1179C>G (p.Ala393=) c.1188C>G (p.Ala396=) c.1359C>G (p.Ala453=) c.1350C>G (p.Ala450=) | |
1 | g.202596838G>T | CA422578137 | SYT2 | c.1179C>A (p.Ala393=) c.1188C>A (p.Ala396=) c.1359C>A (p.Ala453=) c.1350C>A (p.Ala450=) | |
1 | g.202596839G>A | CA344255802 | SYT2 | c.1178C>T (p.Ala393Val) c.1187C>T (p.Ala396Val) c.1358C>T (p.Ala453Val) c.1349C>T (p.Ala450Val) | gnomAD v4 |
1 | g.202596839G>C | CA344255803 | SYT2 | c.1178C>G (p.Ala393Gly) c.1187C>G (p.Ala396Gly) c.1358C>G (p.Ala453Gly) c.1349C>G (p.Ala450Gly) | |
1 | g.202596839G>T | CA344255804 | SYT2 | c.1178C>A (p.Ala393Asp) c.1187C>A (p.Ala396Asp) c.1358C>A (p.Ala453Asp) c.1349C>A (p.Ala450Asp) | |
1 | g.202596840C>A | CA344255805 | SYT2 | c.1177G>T (p.Ala393Ser) c.1186G>T (p.Ala396Ser) c.1357G>T (p.Ala453Ser) c.1348G>T (p.Ala450Ser) | |
1 | g.202596840C>G | CA344255806 | SYT2 | c.1177G>C (p.Ala393Pro) c.1186G>C (p.Ala396Pro) c.1357G>C (p.Ala453Pro) c.1348G>C (p.Ala450Pro) | |
1 | g.202596840C>T | CA344255807 | SYT2 | c.1177G>A (p.Ala393Thr) c.1186G>A (p.Ala396Thr) c.1357G>A (p.Ala453Thr) c.1348G>A (p.Ala450Thr) | gnomAD v4 |
1 | g.202596841C>A | CA422578138 | SYT2 | c.1176G>T (p.Leu392=) c.1185G>T (p.Leu395=) c.1356G>T (p.Leu452=) c.1347G>T (p.Leu449=) | |
1 | g.202596841C>G | CA422578139 | SYT2 | c.1176G>C (p.Leu392=) c.1185G>C (p.Leu395=) c.1356G>C (p.Leu452=) c.1347G>C (p.Leu449=) | |
1 | g.202596841C>T | CA422578140 | SYT2 | c.1176G>A (p.Leu392=) c.1185G>A (p.Leu395=) c.1356G>A (p.Leu452=) c.1347G>A (p.Leu449=) | |
1 | g.202596842A>C | CA344255808 | SYT2 | c.1175T>G (p.Leu392Arg) c.1184T>G (p.Leu395Arg) c.1355T>G (p.Leu452Arg) c.1346T>G (p.Leu449Arg) | |
1 | g.202596842A>G | CA344255809 | SYT2 | c.1175T>C (p.Leu392Pro) c.1184T>C (p.Leu395Pro) c.1355T>C (p.Leu452Pro) c.1346T>C (p.Leu449Pro) | |
1 | g.202596842A>T | CA344255810 | SYT2 | c.1175T>A (p.Leu392Gln) c.1184T>A (p.Leu395Gln) c.1355T>A (p.Leu452Gln) c.1346T>A (p.Leu449Gln) | gnomAD v4 |
1 | g.202596843G>A | CA1333597 | SYT2 | c.1174C>T (p.Leu392=) c.1183C>T (p.Leu395=) c.1354C>T (p.Leu452=) c.1345C>T (p.Leu449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596843G>C | CA344255811 | SYT2 | c.1174C>G (p.Leu392Val) c.1183C>G (p.Leu395Val) c.1354C>G (p.Leu452Val) c.1345C>G (p.Leu449Val) | |
1 | g.202596843G= | CA2481403131 | SYT2 | c.1174C= (p.Leu392=) c.1183C= (p.Leu395=) c.1354C= (p.Leu452=) c.1345C= (p.Leu449=) | |
1 | g.202596843G>T | CA35575129 | SYT2 | c.1174C>A (p.Leu392Met) c.1183C>A (p.Leu395Met) c.1354C>A (p.Leu452Met) c.1345C>A (p.Leu449Met) | dbSNP |
1 | g.202596844C>A | CA344255813 | SYT2 | c.1173G>T (p.Met391Ile) c.1182G>T (p.Met394Ile) c.1353G>T (p.Met451Ile) c.1344G>T (p.Met448Ile) | |
1 | g.202596844C>G | CA344255814 | SYT2 | c.1173G>C (p.Met391Ile) c.1182G>C (p.Met394Ile) c.1353G>C (p.Met451Ile) c.1344G>C (p.Met448Ile) | |
1 | g.202596844C>T | CA344255812 | SYT2 | c.1173G>A (p.Met391Ile) c.1182G>A (p.Met394Ile) c.1353G>A (p.Met451Ile) c.1344G>A (p.Met448Ile) | |
1 | g.202596845A= | CA2481403132 | SYT2 | c.1172T= (p.Met391=) c.1181T= (p.Met394=) c.1352T= (p.Met451=) c.1343T= (p.Met448=) | |
1 | g.202596845A>C | CA344255815 | SYT2 | c.1172T>G (p.Met391Arg) c.1181T>G (p.Met394Arg) c.1352T>G (p.Met451Arg) c.1343T>G (p.Met448Arg) | |
1 | g.202596845A>G | CA344255816 | SYT2 | c.1172T>C (p.Met391Thr) c.1181T>C (p.Met394Thr) c.1352T>C (p.Met451Thr) c.1343T>C (p.Met448Thr) | dbSNP |
1 | g.202596845A>T | CA344255817 | SYT2 | c.1172T>A (p.Met391Lys) c.1181T>A (p.Met394Lys) c.1352T>A (p.Met451Lys) c.1343T>A (p.Met448Lys) | |
1 | g.202596846T>A | CA344255818 | SYT2 | c.1171A>T (p.Met391Leu) c.1180A>T (p.Met394Leu) c.1351A>T (p.Met451Leu) c.1342A>T (p.Met448Leu) | gnomAD v4 |
1 | g.202596846T>C | CA344255819 | SYT2 | c.1171A>G (p.Met391Val) c.1180A>G (p.Met394Val) c.1351A>G (p.Met451Val) c.1342A>G (p.Met448Val) | dbSNP gnomAD v4 |
1 | g.202596846T>G | CA344255820 | SYT2 | c.1171A>C (p.Met391Leu) c.1180A>C (p.Met394Leu) c.1351A>C (p.Met451Leu) c.1342A>C (p.Met448Leu) | |
1 | g.202596846T= | CA2481403133 | SYT2 | c.1171A= (p.Met391=) c.1180A= (p.Met394=) c.1351A= (p.Met451=) c.1342A= (p.Met448=) | |
1 | g.202596847G>A | CA422578141 | SYT2 | c.1170C>T (p.Asp390=) c.1179C>T (p.Asp393=) c.1350C>T (p.Asp450=) c.1341C>T (p.Asp447=) | |
1 | g.202596847G>C | CA344255821 | SYT2 | c.1170C>G (p.Asp390Glu) c.1179C>G (p.Asp393Glu) c.1350C>G (p.Asp450Glu) c.1341C>G (p.Asp447Glu) | |
1 | g.202596847G>T | CA344255822 | SYT2 | c.1170C>A (p.Asp390Glu) c.1179C>A (p.Asp393Glu) c.1350C>A (p.Asp450Glu) c.1341C>A (p.Asp447Glu) | |
1 | g.202596848T>A | CA344255823 | SYT2 | c.1169A>T (p.Asp390Val) c.1178A>T (p.Asp393Val) c.1349A>T (p.Asp450Val) c.1340A>T (p.Asp447Val) | gnomAD v4 |
1 | g.202596848T>C | CA344255824 | SYT2 | c.1169A>G (p.Asp390Gly) c.1178A>G (p.Asp393Gly) c.1349A>G (p.Asp450Gly) c.1340A>G (p.Asp447Gly) | dbSNP gnomAD v4 |
1 | g.202596848T>G | CA344255825 | SYT2 | c.1169A>C (p.Asp390Ala) c.1178A>C (p.Asp393Ala) c.1349A>C (p.Asp450Ala) c.1340A>C (p.Asp447Ala) | |
1 | g.202596848T= | CA2481403134 | SYT2 | c.1169A= (p.Asp390=) c.1178A= (p.Asp393=) c.1349A= (p.Asp450=) c.1340A= (p.Asp447=) | |
1 | g.202596849C>A | CA344255826 | SYT2 | c.1168G>T (p.Asp390Tyr) c.1177G>T (p.Asp393Tyr) c.1348G>T (p.Asp450Tyr) c.1339G>T (p.Asp447Tyr) | |
1 | g.202596849C= | CA2481403135 | SYT2 | c.1168G= (p.Asp390=) c.1177G= (p.Asp393=) c.1348G= (p.Asp450=) c.1339G= (p.Asp447=) | |
1 | g.202596849C>G | CA344255827 | SYT2 | c.1168G>C (p.Asp390His) c.1177G>C (p.Asp393His) c.1348G>C (p.Asp450His) c.1339G>C (p.Asp447His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596849C>T | CA1333598 | SYT2 | c.1168G>A (p.Asp390Asn) c.1177G>A (p.Asp393Asn) c.1348G>A (p.Asp450Asn) c.1339G>A (p.Asp447Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.202596850G>A | CA1333599 | SYT2 | c.1167C>T (p.Ser389=) c.1176C>T (p.Ser392=) c.1347C>T (p.Ser449=) c.1338C>T (p.Ser446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596850G>C | CA422578142 | SYT2 | c.1167C>G (p.Ser389=) c.1176C>G (p.Ser392=) c.1347C>G (p.Ser449=) c.1338C>G (p.Ser446=) | |
1 | g.202596850G= | CA1143910181 | SYT2 | c.1167C= (p.Ser389=) c.1176C= (p.Ser392=) c.1347C= (p.Ser449=) c.1338C= (p.Ser446=) | |
1 | g.202596850G>T | CA422578143 | SYT2 | c.1167C>A (p.Ser389=) c.1176C>A (p.Ser392=) c.1347C>A (p.Ser449=) c.1338C>A (p.Ser446=) | |
1 | g.202596851dup | CA2649903300 | SYT2 | c.1167dup (p.Asp390ArgfsTer19) c.1176dup (p.Asp393ArgfsTer19) c.1347dup (p.Asp450ArgfsTer19) c.1338dup (p.Asp447ArgfsTer19) | gnomAD v4 |
1 | g.202596851G>A | CA344255828 | SYT2 | c.1166C>T (p.Ser389Phe) c.1175C>T (p.Ser392Phe) c.1346C>T (p.Ser449Phe) c.1337C>T (p.Ser446Phe) | |
1 | g.202596851G>C | CA344255829 | SYT2 | c.1166C>G (p.Ser389Cys) c.1175C>G (p.Ser392Cys) c.1346C>G (p.Ser449Cys) c.1337C>G (p.Ser446Cys) | |
1 | g.202596851G>T | CA344255830 | SYT2 | c.1166C>A (p.Ser389Tyr) c.1175C>A (p.Ser392Tyr) c.1346C>A (p.Ser449Tyr) c.1337C>A (p.Ser446Tyr) | |
1 | g.202596852A= | CA2481403136 | SYT2 | c.1165T= (p.Ser389=) c.1174T= (p.Ser392=) c.1345T= (p.Ser449=) c.1336T= (p.Ser446=) | |
1 | g.202596852A>C | CA344255831 | SYT2 | c.1165T>G (p.Ser389Ala) c.1174T>G (p.Ser392Ala) c.1345T>G (p.Ser449Ala) c.1336T>G (p.Ser446Ala) | dbSNP gnomAD v2 |
1 | g.202596852A>G | CA344255832 | SYT2 | c.1165T>C (p.Ser389Pro) c.1174T>C (p.Ser392Pro) c.1345T>C (p.Ser449Pro) c.1336T>C (p.Ser446Pro) | |
1 | g.202596852A>T | CA344255833 | SYT2 | c.1165T>A (p.Ser389Thr) c.1174T>A (p.Ser392Thr) c.1345T>A (p.Ser449Thr) c.1336T>A (p.Ser446Thr) | |
1 | g.202596853C>A | CA344255834 | SYT2 | c.1164G>T (p.Trp388Cys) c.1173G>T (p.Trp391Cys) c.1344G>T (p.Trp448Cys) c.1335G>T (p.Trp445Cys) | gnomAD v4 |
1 | g.202596853C>G | CA344255835 | SYT2 | c.1164G>C (p.Trp388Cys) c.1173G>C (p.Trp391Cys) c.1344G>C (p.Trp448Cys) c.1335G>C (p.Trp445Cys) | |
1 | g.202596853C>T | CA344255836 | SYT2 | c.1164G>A (p.Trp388Ter) c.1173G>A (p.Trp391Ter) c.1344G>A (p.Trp448Ter) c.1335G>A (p.Trp445Ter) | |
1 | g.202596854C>A | CA344255837 | SYT2 | c.1163G>T (p.Trp388Leu) c.1172G>T (p.Trp391Leu) c.1343G>T (p.Trp448Leu) c.1334G>T (p.Trp445Leu) | |
1 | g.202596854C>G | CA344255838 | SYT2 | c.1163G>C (p.Trp388Ser) c.1172G>C (p.Trp391Ser) c.1343G>C (p.Trp448Ser) c.1334G>C (p.Trp445Ser) | |
1 | g.202596854C>T | CA344255839 | SYT2 | c.1163G>A (p.Trp388Ter) c.1172G>A (p.Trp391Ter) c.1343G>A (p.Trp448Ter) c.1334G>A (p.Trp445Ter) | |
1 | g.202596855A>C | CA344255840 | SYT2 | c.1162T>G (p.Trp388Gly) c.1171T>G (p.Trp391Gly) c.1342T>G (p.Trp448Gly) c.1333T>G (p.Trp445Gly) | |
1 | g.202596855A>G | CA344255841 | SYT2 | c.1162T>C (p.Trp388Arg) c.1171T>C (p.Trp391Arg) c.1342T>C (p.Trp448Arg) c.1333T>C (p.Trp445Arg) | |
1 | g.202596855A>T | CA344255842 | SYT2 | c.1162T>A (p.Trp388Arg) c.1171T>A (p.Trp391Arg) c.1342T>A (p.Trp448Arg) c.1333T>A (p.Trp445Arg) | |
1 | g.202596856G>A | CA422578146 | SYT2 | c.1161C>T (p.His387=) c.1170C>T (p.His390=) c.1341C>T (p.His447=) c.1332C>T (p.His444=) | |
1 | g.202596856G>C | CA344255843 | SYT2 | c.1161C>G (p.His387Gln) c.1170C>G (p.His390Gln) c.1341C>G (p.His447Gln) c.1332C>G (p.His444Gln) | |
1 | g.202596856G>T | CA344255844 | SYT2 | c.1161C>A (p.His387Gln) c.1170C>A (p.His390Gln) c.1341C>A (p.His447Gln) c.1332C>A (p.His444Gln) | |
1 | g.202596857T>A | CA344255845 | SYT2 | c.1160A>T (p.His387Leu) c.1169A>T (p.His390Leu) c.1340A>T (p.His447Leu) c.1331A>T (p.His444Leu) | |
1 | g.202596857T>C | CA344255847 | SYT2 | c.1160A>G (p.His387Arg) c.1169A>G (p.His390Arg) c.1340A>G (p.His447Arg) c.1331A>G (p.His444Arg) | |
1 | g.202596857T>G | CA344255846 | SYT2 | c.1160A>C (p.His387Pro) c.1169A>C (p.His390Pro) c.1340A>C (p.His447Pro) c.1331A>C (p.His444Pro) | |
1 | g.202596858G>A | CA344255848 | SYT2 | c.1159C>T (p.His387Tyr) c.1168C>T (p.His390Tyr) c.1339C>T (p.His447Tyr) c.1330C>T (p.His444Tyr) | |
1 | g.202596858G>C | CA344255850 | SYT2 | c.1159C>G (p.His387Asp) c.1168C>G (p.His390Asp) c.1339C>G (p.His447Asp) c.1330C>G (p.His444Asp) | |
1 | g.202596858G>T | CA344255849 | SYT2 | c.1159C>A (p.His387Asn) c.1168C>A (p.His390Asn) c.1339C>A (p.His447Asn) c.1330C>A (p.His444Asn) | |
1 | g.202596859C>A | CA422578147 | SYT2 | c.1158G>T (p.Arg386=) c.1167G>T (p.Arg389=) c.1338G>T (p.Arg446=) c.1329G>T (p.Arg443=) | |
1 | g.202596859C>G | CA422578148 | SYT2 | c.1158G>C (p.Arg386=) c.1167G>C (p.Arg389=) c.1338G>C (p.Arg446=) c.1329G>C (p.Arg443=) | |
1 | g.202596859C>T | CA422578149 | SYT2 | c.1158G>A (p.Arg386=) c.1167G>A (p.Arg389=) c.1338G>A (p.Arg446=) c.1329G>A (p.Arg443=) | gnomAD v4 |
1 | g.202596860C>A | CA344255851 | SYT2 | c.1157G>T (p.Arg386Leu) c.1166G>T (p.Arg389Leu) c.1337G>T (p.Arg446Leu) c.1328G>T (p.Arg443Leu) | |
1 | g.202596860C= | CA2481403137 | SYT2 | c.1157G= (p.Arg386=) c.1166G= (p.Arg389=) c.1337G= (p.Arg446=) c.1328G= (p.Arg443=) | |
1 | g.202596860C>G | CA344255852 | SYT2 | c.1157G>C (p.Arg386Pro) c.1166G>C (p.Arg389Pro) c.1337G>C (p.Arg446Pro) c.1328G>C (p.Arg443Pro) | |
1 | g.202596860C>T | CA344255853 | SYT2 | c.1157G>A (p.Arg386Gln) c.1166G>A (p.Arg389Gln) c.1337G>A (p.Arg446Gln) c.1328G>A (p.Arg443Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596861G>A | CA344255854 | SYT2 | c.1156C>T (p.Arg386Trp) c.1165C>T (p.Arg389Trp) c.1336C>T (p.Arg446Trp) c.1327C>T (p.Arg443Trp) | dbSNP gnomAD v4 |
1 | g.202596861G>C | CA344255855 | SYT2 | c.1156C>G (p.Arg386Gly) c.1165C>G (p.Arg389Gly) c.1336C>G (p.Arg446Gly) c.1327C>G (p.Arg443Gly) | |
1 | g.202596861G= | CA2481403138 | SYT2 | c.1156C= (p.Arg386=) c.1165C= (p.Arg389=) c.1336C= (p.Arg446=) c.1327C= (p.Arg443=) | |
1 | g.202596861G>T | CA1333600 | SYT2 | c.1156C>A (p.Arg386=) c.1165C>A (p.Arg389=) c.1336C>A (p.Arg446=) c.1327C>A (p.Arg443=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596862C>A | CA422578150 | SYT2 | c.1155G>T (p.Leu385=) c.1164G>T (p.Leu388=) c.1335G>T (p.Leu445=) c.1326G>T (p.Leu442=) | |
1 | g.202596862C>G | CA422578151 | SYT2 | c.1155G>C (p.Leu385=) c.1164G>C (p.Leu388=) c.1335G>C (p.Leu445=) c.1326G>C (p.Leu442=) | |
1 | g.202596862C>T | CA422578152 | SYT2 | c.1155G>A (p.Leu385=) c.1164G>A (p.Leu388=) c.1335G>A (p.Leu445=) c.1326G>A (p.Leu442=) | |
1 | g.202596863A>C | CA344255856 | SYT2 | c.1154T>G (p.Leu385Arg) c.1163T>G (p.Leu388Arg) c.1334T>G (p.Leu445Arg) c.1325T>G (p.Leu442Arg) | gnomAD v4 |
1 | g.202596863A>G | CA344255857 | SYT2 | c.1154T>C (p.Leu385Pro) c.1163T>C (p.Leu388Pro) c.1334T>C (p.Leu445Pro) c.1325T>C (p.Leu442Pro) | |
1 | g.202596863A>T | CA344255858 | SYT2 | c.1154T>A (p.Leu385Gln) c.1163T>A (p.Leu388Gln) c.1334T>A (p.Leu445Gln) c.1325T>A (p.Leu442Gln) | |
1 | g.202596864G>A | CA422578153 | SYT2 | c.1153C>T (p.Leu385=) c.1162C>T (p.Leu388=) c.1333C>T (p.Leu445=) c.1324C>T (p.Leu442=) | |
1 | g.202596864G>C | CA344255860 | SYT2 | c.1153C>G (p.Leu385Val) c.1162C>G (p.Leu388Val) c.1333C>G (p.Leu445Val) c.1324C>G (p.Leu442Val) | gnomAD v4 |
1 | g.202596864G>T | CA344255861 | SYT2 | c.1153C>A (p.Leu385Met) c.1162C>A (p.Leu388Met) c.1333C>A (p.Leu445Met) c.1324C>A (p.Leu442Met) | |
1 | g.202596865C>A | CA344255862 | SYT2 | c.1152G>T (p.Glu384Asp) c.1161G>T (p.Glu387Asp) c.1332G>T (p.Glu444Asp) c.1323G>T (p.Glu441Asp) | |
1 | g.202596865C= | CA2481403139 | SYT2 | c.1152G= (p.Glu384=) c.1161G= (p.Glu387=) c.1332G= (p.Glu444=) c.1323G= (p.Glu441=) | |
1 | g.202596865C>G | CA344255863 | SYT2 | c.1152G>C (p.Glu384Asp) c.1161G>C (p.Glu387Asp) c.1332G>C (p.Glu444Asp) c.1323G>C (p.Glu441Asp) | |
1 | g.202596865C>T | CA35575158 | SYT2 | c.1152G>A (p.Glu384=) c.1161G>A (p.Glu387=) c.1332G>A (p.Glu444=) c.1323G>A (p.Glu441=) | dbSNP |
1 | g.202596866T>A | CA344255866 | SYT2 | c.1151A>T (p.Glu384Val) c.1160A>T (p.Glu387Val) c.1331A>T (p.Glu444Val) c.1322A>T (p.Glu441Val) | |
1 | g.202596866T>C | CA344255868 | SYT2 | c.1151A>G (p.Glu384Gly) c.1160A>G (p.Glu387Gly) c.1331A>G (p.Glu444Gly) c.1322A>G (p.Glu441Gly) | |
1 | g.202596866T>G | CA344255867 | SYT2 | c.1151A>C (p.Glu384Ala) c.1160A>C (p.Glu387Ala) c.1331A>C (p.Glu444Ala) c.1322A>C (p.Glu441Ala) | |
1 | g.202596867C>A | CA344255870 | SYT2 | c.1150G>T (p.Glu384Ter) c.1159G>T (p.Glu387Ter) c.1330G>T (p.Glu444Ter) c.1321G>T (p.Glu441Ter) | |
1 | g.202596867C>G | CA344255872 | SYT2 | c.1150G>C (p.Glu384Gln) c.1159G>C (p.Glu387Gln) c.1330G>C (p.Glu444Gln) c.1321G>C (p.Glu441Gln) | |
1 | g.202596867C>T | CA344255874 | SYT2 | c.1150G>A (p.Glu384Lys) c.1159G>A (p.Glu387Lys) c.1330G>A (p.Glu444Lys) c.1321G>A (p.Glu441Lys) | COSMIC |
1 | g.202596868T>A | CA422578154 | SYT2 | c.1149A>T (p.Thr383=) c.1158A>T (p.Thr386=) c.1329A>T (p.Thr443=) c.1320A>T (p.Thr440=) | |
1 | g.202596868T>C | CA422578155 | SYT2 | c.1149A>G (p.Thr383=) c.1158A>G (p.Thr386=) c.1329A>G (p.Thr443=) c.1320A>G (p.Thr440=) | |
1 | g.202596868T>G | CA422578156 | SYT2 | c.1149A>C (p.Thr383=) c.1158A>C (p.Thr386=) c.1329A>C (p.Thr443=) c.1320A>C (p.Thr440=) | |
1 | g.202596869G>A | CA344255876 | SYT2 | c.1148C>T (p.Thr383Ile) c.1157C>T (p.Thr386Ile) c.1328C>T (p.Thr443Ile) c.1319C>T (p.Thr440Ile) | |
1 | g.202596869G>C | CA344255878 | SYT2 | c.1148C>G (p.Thr383Arg) c.1157C>G (p.Thr386Arg) c.1328C>G (p.Thr443Arg) c.1319C>G (p.Thr440Arg) | |
1 | g.202596869G>T | CA344255880 | SYT2 | c.1148C>A (p.Thr383Lys) c.1157C>A (p.Thr386Lys) c.1328C>A (p.Thr443Lys) c.1319C>A (p.Thr440Lys) | |
1 | g.202596870T>A | CA344255881 | SYT2 | c.1147A>T (p.Thr383Ser) c.1156A>T (p.Thr386Ser) c.1327A>T (p.Thr443Ser) c.1318A>T (p.Thr440Ser) | |
1 | g.202596870T>C | CA344255883 | SYT2 | c.1147A>G (p.Thr383Ala) c.1156A>G (p.Thr386Ala) c.1327A>G (p.Thr443Ala) c.1318A>G (p.Thr440Ala) | |
1 | g.202596870T>G | CA344255884 | SYT2 | c.1147A>C (p.Thr383Pro) c.1156A>C (p.Thr386Pro) c.1327A>C (p.Thr443Pro) c.1318A>C (p.Thr440Pro) | |
1 | g.202596871G>A | CA422578157 | SYT2 | c.1146C>T (p.Gly382=) c.1155C>T (p.Gly385=) c.1326C>T (p.Gly442=) c.1317C>T (p.Gly439=) | dbSNP |
1 | g.202596871G>C | CA422578158 | SYT2 | c.1146C>G (p.Gly382=) c.1155C>G (p.Gly385=) c.1326C>G (p.Gly442=) c.1317C>G (p.Gly439=) | |
1 | g.202596871G= | CA2481403140 | SYT2 | c.1146C= (p.Gly382=) c.1155C= (p.Gly385=) c.1326C= (p.Gly442=) c.1317C= (p.Gly439=) | |
1 | g.202596871G>T | CA422578159 | SYT2 | c.1146C>A (p.Gly382=) c.1155C>A (p.Gly385=) c.1326C>A (p.Gly442=) c.1317C>A (p.Gly439=) | |
1 | g.202596872C>A | CA344255891 | SYT2 | c.1145G>T (p.Gly382Val) c.1154G>T (p.Gly385Val) c.1325G>T (p.Gly442Val) c.1316G>T (p.Gly439Val) | |
1 | g.202596872C>G | CA344255889 | SYT2 | c.1145G>C (p.Gly382Ala) c.1154G>C (p.Gly385Ala) c.1325G>C (p.Gly442Ala) c.1316G>C (p.Gly439Ala) | |
1 | g.202596872C>T | CA344255887 | SYT2 | c.1145G>A (p.Gly382Asp) c.1154G>A (p.Gly385Asp) c.1325G>A (p.Gly442Asp) c.1316G>A (p.Gly439Asp) | |
1 | g.202596873C>A | CA344255893 | SYT2 | c.1144G>T (p.Gly382Cys) c.1153G>T (p.Gly385Cys) c.1324G>T (p.Gly442Cys) c.1315G>T (p.Gly439Cys) | |
1 | g.202596873C= | CA2481403141 | SYT2 | c.1144G= (p.Gly382=) c.1153G= (p.Gly385=) c.1324G= (p.Gly442=) c.1315G= (p.Gly439=) | |
1 | g.202596873C>G | CA344255894 | SYT2 | c.1144G>C (p.Gly382Arg) c.1153G>C (p.Gly385Arg) c.1324G>C (p.Gly442Arg) c.1315G>C (p.Gly439Arg) | |
1 | g.202596873C>T | CA344255896 | SYT2 | c.1144G>A (p.Gly382Ser) c.1153G>A (p.Gly385Ser) c.1324G>A (p.Gly442Ser) c.1315G>A (p.Gly439Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.202596874C>A | CA1333602 | SYT2 | c.1143G>T (p.Thr381=) c.1152G>T (p.Thr384=) c.1323G>T (p.Thr441=) c.1314G>T (p.Thr438=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.202596874C= | CA2481403142 | SYT2 | c.1143G= (p.Thr381=) c.1152G= (p.Thr384=) c.1323G= (p.Thr441=) c.1314G= (p.Thr438=) | |
1 | g.202596874C>G | CA422578160 | SYT2 | c.1143G>C (p.Thr381=) c.1152G>C (p.Thr384=) c.1323G>C (p.Thr441=) c.1314G>C (p.Thr438=) | |
1 | g.202596874C>T | CA1333601 | SYT2 | c.1143G>A (p.Thr381=) c.1152G>A (p.Thr384=) c.1323G>A (p.Thr441=) c.1314G>A (p.Thr438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596875G>A | CA1333603 | SYT2 | c.1142C>T (p.Thr381Met) c.1151C>T (p.Thr384Met) c.1322C>T (p.Thr441Met) c.1313C>T (p.Thr438Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596875G>C | CA344255903 | SYT2 | c.1142C>G (p.Thr381Arg) c.1151C>G (p.Thr384Arg) c.1322C>G (p.Thr441Arg) c.1313C>G (p.Thr438Arg) | |
1 | g.202596875G= | CA1144214195 | SYT2 | c.1142C= (p.Thr381=) c.1151C= (p.Thr384=) c.1322C= (p.Thr441=) c.1313C= (p.Thr438=) | |
1 | g.202596875G>T | CA344255901 | SYT2 | c.1142C>A (p.Thr381Lys) c.1151C>A (p.Thr384Lys) c.1322C>A (p.Thr441Lys) c.1313C>A (p.Thr438Lys) | |
1 | g.202596876T>A | CA344255906 | SYT2 | c.1141A>T (p.Thr381Ser) c.1150A>T (p.Thr384Ser) c.1321A>T (p.Thr441Ser) c.1312A>T (p.Thr438Ser) | |
1 | g.202596876T>C | CA344255908 | SYT2 | c.1141A>G (p.Thr381Ala) c.1150A>G (p.Thr384Ala) c.1321A>G (p.Thr441Ala) c.1312A>G (p.Thr438Ala) | |
1 | g.202596876T>G | CA344255910 | SYT2 | c.1141A>C (p.Thr381Pro) c.1150A>C (p.Thr384Pro) c.1321A>C (p.Thr441Pro) c.1312A>C (p.Thr438Pro) | |
1 | g.202596877G>A | CA422578161 | SYT2 | c.1140C>T (p.Ala380=) c.1149C>T (p.Ala383=) c.1320C>T (p.Ala440=) c.1311C>T (p.Ala437=) | |
1 | g.202596877G>C | CA422578162 | SYT2 | c.1140C>G (p.Ala380=) c.1149C>G (p.Ala383=) c.1320C>G (p.Ala440=) c.1311C>G (p.Ala437=) | |
1 | g.202596877G>T | CA422578163 | SYT2 | c.1140C>A (p.Ala380=) c.1149C>A (p.Ala383=) c.1320C>A (p.Ala440=) c.1311C>A (p.Ala437=) | |
1 | g.202596878G>A | CA344255912 | SYT2 | c.1139C>T (p.Ala380Val) c.1148C>T (p.Ala383Val) c.1319C>T (p.Ala440Val) c.1310C>T (p.Ala437Val) | dbSNP gnomAD v4 COSMIC |
1 | g.202596878G>C | CA344255914 | SYT2 | c.1139C>G (p.Ala380Gly) c.1148C>G (p.Ala383Gly) c.1319C>G (p.Ala440Gly) c.1310C>G (p.Ala437Gly) | |
1 | g.202596878G= | CA2481403143 | SYT2 | c.1139C= (p.Ala380=) c.1148C= (p.Ala383=) c.1319C= (p.Ala440=) c.1310C= (p.Ala437=) | |
1 | g.202596878G>T | CA344255916 | SYT2 | c.1139C>A (p.Ala380Asp) c.1148C>A (p.Ala383Asp) c.1319C>A (p.Ala440Asp) c.1310C>A (p.Ala437Asp) | |
1 | g.202596879C>A | CA344255917 | SYT2 | c.1138G>T (p.Ala380Ser) c.1147G>T (p.Ala383Ser) c.1318G>T (p.Ala440Ser) c.1309G>T (p.Ala437Ser) | |
1 | g.202596879C>G | CA344255919 | SYT2 | c.1138G>C (p.Ala380Pro) c.1147G>C (p.Ala383Pro) c.1318G>C (p.Ala440Pro) c.1309G>C (p.Ala437Pro) | |
1 | g.202596879C>T | CA344255918 | SYT2 | c.1138G>A (p.Ala380Thr) c.1147G>A (p.Ala383Thr) c.1318G>A (p.Ala440Thr) c.1309G>A (p.Ala437Thr) | |
1 | g.202596880A>C | CA344255921 | SYT2 | c.1137T>G (p.Asn379Lys) c.1146T>G (p.Asn382Lys) c.1317T>G (p.Asn439Lys) c.1308T>G (p.Asn436Lys) | |
1 | g.202596880A>G | CA422578164 | SYT2 | c.1137T>C (p.Asn379=) c.1146T>C (p.Asn382=) c.1317T>C (p.Asn439=) c.1308T>C (p.Asn436=) | |
1 | g.202596880A>T | CA344255923 | SYT2 | c.1137T>A (p.Asn379Lys) c.1146T>A (p.Asn382Lys) c.1317T>A (p.Asn439Lys) c.1308T>A (p.Asn436Lys) | |
1 | g.202596881T>A | CA344255925 | SYT2 | c.1136A>T (p.Asn379Ile) c.1145A>T (p.Asn382Ile) c.1316A>T (p.Asn439Ile) c.1307A>T (p.Asn436Ile) | |
1 | g.202596881T>C | CA344255927 | SYT2 | c.1136A>G (p.Asn379Ser) c.1145A>G (p.Asn382Ser) c.1316A>G (p.Asn439Ser) c.1307A>G (p.Asn436Ser) | |
1 | g.202596881T>G | CA344255929 | SYT2 | c.1136A>C (p.Asn379Thr) c.1145A>C (p.Asn382Thr) c.1316A>C (p.Asn439Thr) c.1307A>C (p.Asn436Thr) | |
1 | g.202596882T>A | CA344255931 | SYT2 | c.1135A>T (p.Asn379Tyr) c.1144A>T (p.Asn382Tyr) c.1315A>T (p.Asn439Tyr) c.1306A>T (p.Asn436Tyr) | |
1 | g.202596882T>C | CA344255932 | SYT2 | c.1135A>G (p.Asn379Asp) c.1144A>G (p.Asn382Asp) c.1315A>G (p.Asn439Asp) c.1306A>G (p.Asn436Asp) | dbSNP |
1 | g.202596882T>G | CA344255934 | SYT2 | c.1135A>C (p.Asn379His) c.1144A>C (p.Asn382His) c.1315A>C (p.Asn439His) c.1306A>C (p.Asn436His) | dbSNP gnomAD v4 |
1 | g.202596882T= | CA2481403144 | SYT2 | c.1135A= (p.Asn379=) c.1144A= (p.Asn382=) c.1315A= (p.Asn439=) c.1306A= (p.Asn436=) | |
1 | g.202596883G>A | CA422578165 | SYT2 | c.1134C>T (p.Ser378=) c.1143C>T (p.Ser381=) c.1314C>T (p.Ser438=) c.1305C>T (p.Ser435=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596883G>C | CA344255936 | SYT2 | c.1134C>G (p.Ser378Arg) c.1143C>G (p.Ser381Arg) c.1314C>G (p.Ser438Arg) c.1305C>G (p.Ser435Arg) | |
1 | g.202596883G= | CA2481403145 | SYT2 | c.1134C= (p.Ser378=) c.1143C= (p.Ser381=) c.1314C= (p.Ser438=) c.1305C= (p.Ser435=) | |
1 | g.202596883G>T | CA344255938 | SYT2 | c.1134C>A (p.Ser378Arg) c.1143C>A (p.Ser381Arg) c.1314C>A (p.Ser438Arg) c.1305C>A (p.Ser435Arg) | |
1 | g.202596884C>A | CA344255943 | SYT2 | c.1133G>T (p.Ser378Ile) c.1142G>T (p.Ser381Ile) c.1313G>T (p.Ser438Ile) c.1304G>T (p.Ser435Ile) | COSMIC |
1 | g.202596884C>G | CA344255942 | SYT2 | c.1133G>C (p.Ser378Thr) c.1142G>C (p.Ser381Thr) c.1313G>C (p.Ser438Thr) c.1304G>C (p.Ser435Thr) | |
1 | g.202596884C>T | CA344255940 | SYT2 | c.1133G>A (p.Ser378Asn) c.1142G>A (p.Ser381Asn) c.1313G>A (p.Ser438Asn) c.1304G>A (p.Ser435Asn) | gnomAD v4 |
1 | g.202596885T>A | CA344255946 | SYT2 | c.1132A>T (p.Ser378Cys) c.1141A>T (p.Ser381Cys) c.1312A>T (p.Ser438Cys) c.1303A>T (p.Ser435Cys) | |
1 | g.202596885T>C | CA344255950 | SYT2 | c.1132A>G (p.Ser378Gly) c.1141A>G (p.Ser381Gly) c.1312A>G (p.Ser438Gly) c.1303A>G (p.Ser435Gly) | |
1 | g.202596885T>G | CA344255948 | SYT2 | c.1132A>C (p.Ser378Arg) c.1141A>C (p.Ser381Arg) c.1312A>C (p.Ser438Arg) c.1303A>C (p.Ser435Arg) | |
1 | g.202596886G>A | CA422578166 | SYT2 | c.1131C>T (p.Gly377=) c.1140C>T (p.Gly380=) c.1311C>T (p.Gly437=) c.1302C>T (p.Gly434=) | |
1 | g.202596886G>C | CA422578167 | SYT2 | c.1131C>G (p.Gly377=) c.1140C>G (p.Gly380=) c.1311C>G (p.Gly437=) c.1302C>G (p.Gly434=) | |
1 | g.202596886G>T | CA422578168 | SYT2 | c.1131C>A (p.Gly377=) c.1140C>A (p.Gly380=) c.1311C>A (p.Gly437=) c.1302C>A (p.Gly434=) | |
1 | g.202596887C>A | CA344255952 | SYT2 | c.1130G>T (p.Gly377Val) c.1139G>T (p.Gly380Val) c.1310G>T (p.Gly437Val) c.1301G>T (p.Gly434Val) | |
1 | g.202596887C>G | CA344255954 | SYT2 | c.1130G>C (p.Gly377Ala) c.1139G>C (p.Gly380Ala) c.1310G>C (p.Gly437Ala) c.1301G>C (p.Gly434Ala) | |
1 | g.202596887C>T | CA344255956 | SYT2 | c.1130G>A (p.Gly377Asp) c.1139G>A (p.Gly380Asp) c.1310G>A (p.Gly437Asp) c.1301G>A (p.Gly434Asp) | |
1 | g.202596888C>A | CA344255958 | SYT2 | c.1129G>T (p.Gly377Cys) c.1138G>T (p.Gly380Cys) c.1309G>T (p.Gly437Cys) c.1300G>T (p.Gly434Cys) | |
1 | g.202596888C>G | CA344255960 | SYT2 | c.1129G>C (p.Gly377Arg) c.1138G>C (p.Gly380Arg) c.1309G>C (p.Gly437Arg) c.1300G>C (p.Gly434Arg) | |
1 | g.202596888C>T | CA344255962 | SYT2 | c.1129G>A (p.Gly377Ser) c.1138G>A (p.Gly380Ser) c.1309G>A (p.Gly437Ser) c.1300G>A (p.Gly434Ser) | |
1 | g.202596889C>A | CA422578169 | SYT2 | c.1128G>T (p.Val376=) c.1137G>T (p.Val379=) c.1308G>T (p.Val436=) c.1299G>T (p.Val433=) | |
1 | g.202596889C>G | CA422578170 | SYT2 | c.1128G>C (p.Val376=) c.1137G>C (p.Val379=) c.1308G>C (p.Val436=) c.1299G>C (p.Val433=) | |
1 | g.202596889C>T | CA422578171 | SYT2 | c.1128G>A (p.Val376=) c.1137G>A (p.Val379=) c.1308G>A (p.Val436=) c.1299G>A (p.Val433=) | ClinVar gnomAD v4 |
1 | g.202596890A>C | CA344255964 | SYT2 | c.1127T>G (p.Val376Gly) c.1136T>G (p.Val379Gly) c.1307T>G (p.Val436Gly) c.1298T>G (p.Val433Gly) | |
1 | g.202596890A>G | CA344255966 | SYT2 | c.1127T>C (p.Val376Ala) c.1136T>C (p.Val379Ala) c.1307T>C (p.Val436Ala) c.1298T>C (p.Val433Ala) | |
1 | g.202596890A>T | CA344255968 | SYT2 | c.1127T>A (p.Val376Glu) c.1136T>A (p.Val379Glu) c.1307T>A (p.Val436Glu) c.1298T>A (p.Val433Glu) | |
1 | g.202596891C>A | CA344255970 | SYT2 | c.1126G>T (p.Val376Leu) c.1135G>T (p.Val379Leu) c.1306G>T (p.Val436Leu) c.1297G>T (p.Val433Leu) | |
1 | g.202596891C= | CA2481403146 | SYT2 | c.1126G= (p.Val376=) c.1135G= (p.Val379=) c.1306G= (p.Val436=) c.1297G= (p.Val433=) | |
1 | g.202596891C>G | CA344255972 | SYT2 | c.1126G>C (p.Val376Leu) c.1135G>C (p.Val379Leu) c.1306G>C (p.Val436Leu) c.1297G>C (p.Val433Leu) | gnomAD v4 |
1 | g.202596891C>T | CA344255974 | SYT2 | c.1126G>A (p.Val376Met) c.1135G>A (p.Val379Met) c.1306G>A (p.Val436Met) c.1297G>A (p.Val433Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596892G>A | CA1333604 | SYT2 | c.1125C>T (p.Phe375=) c.1134C>T (p.Phe378=) c.1305C>T (p.Phe435=) c.1296C>T (p.Phe432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.202596892G>C | CA344255978 | SYT2 | c.1125C>G (p.Phe375Leu) c.1134C>G (p.Phe378Leu) c.1305C>G (p.Phe435Leu) c.1296C>G (p.Phe432Leu) | |
1 | g.202596892G= | CA1141676729 | SYT2 | c.1125C= (p.Phe375=) c.1134C= (p.Phe378=) c.1305C= (p.Phe435=) c.1296C= (p.Phe432=) | |
1 | g.202596892G>T | CA344255976 | SYT2 | c.1125C>A (p.Phe375Leu) c.1134C>A (p.Phe378Leu) c.1305C>A (p.Phe435Leu) c.1296C>A (p.Phe432Leu) | |
1 | g.202596893A>C | CA344255980 | SYT2 | c.1124T>G (p.Phe375Cys) c.1133T>G (p.Phe378Cys) c.1304T>G (p.Phe435Cys) c.1295T>G (p.Phe432Cys) | |
1 | g.202596893A>G | CA344255982 | SYT2 | c.1124T>C (p.Phe375Ser) c.1133T>C (p.Phe378Ser) c.1304T>C (p.Phe435Ser) c.1295T>C (p.Phe432Ser) | |
1 | g.202596893A>T | CA344255984 | SYT2 | c.1124T>A (p.Phe375Tyr) c.1133T>A (p.Phe378Tyr) c.1304T>A (p.Phe435Tyr) c.1295T>A (p.Phe432Tyr) | |
1 | g.202596894A>C | CA344255986 | SYT2 | c.1123T>G (p.Phe375Val) c.1132T>G (p.Phe378Val) c.1303T>G (p.Phe435Val) c.1294T>G (p.Phe432Val) | |
1 | g.202596894A>G | CA344255988 | SYT2 | c.1123T>C (p.Phe375Leu) c.1132T>C (p.Phe378Leu) c.1303T>C (p.Phe435Leu) c.1294T>C (p.Phe432Leu) | |
1 | g.202596894A>T | CA344255990 | SYT2 | c.1123T>A (p.Phe375Ile) c.1132T>A (p.Phe378Ile) c.1303T>A (p.Phe435Ile) c.1294T>A (p.Phe432Ile) | |
1 | g.202596895G>A | CA422578172 | SYT2 | c.1122C>T (p.Ile374=) c.1131C>T (p.Ile377=) c.1302C>T (p.Ile434=) c.1293C>T (p.Ile431=) | gnomAD v4 |
1 | g.202596895G>C | CA344255992 | SYT2 | c.1122C>G (p.Ile374Met) c.1131C>G (p.Ile377Met) c.1302C>G (p.Ile434Met) c.1293C>G (p.Ile431Met) | |
1 | g.202596895G>T | CA422578173 | SYT2 | c.1122C>A (p.Ile374=) c.1131C>A (p.Ile377=) c.1302C>A (p.Ile434=) c.1293C>A (p.Ile431=) | |
1 | g.202596896A>C | CA344255994 | SYT2 | c.1121T>G (p.Ile374Ser) c.1130T>G (p.Ile377Ser) c.1301T>G (p.Ile434Ser) c.1292T>G (p.Ile431Ser) | gnomAD v4 |
1 | g.202596896A>G | CA344255996 | SYT2 | c.1121T>C (p.Ile374Thr) c.1130T>C (p.Ile377Thr) c.1301T>C (p.Ile434Thr) c.1292T>C (p.Ile431Thr) | |
1 | g.202596896A>T | CA344255998 | SYT2 | c.1121T>A (p.Ile374Asn) c.1130T>A (p.Ile377Asn) c.1301T>A (p.Ile434Asn) c.1292T>A (p.Ile431Asn) | |
1 | g.202596897T>A | CA344256001 | SYT2 | c.1120A>T (p.Ile374Phe) c.1129A>T (p.Ile377Phe) c.1300A>T (p.Ile434Phe) c.1291A>T (p.Ile431Phe) | |
1 | g.202596897T>C | CA344256003 | SYT2 | c.1120A>G (p.Ile374Val) c.1129A>G (p.Ile377Val) c.1300A>G (p.Ile434Val) c.1291A>G (p.Ile431Val) | |
1 | g.202596897T>G | CA344255999 | SYT2 | c.1120A>C (p.Ile374Leu) c.1129A>C (p.Ile377Leu) c.1300A>C (p.Ile434Leu) c.1291A>C (p.Ile431Leu) | |
1 | g.202596898C>A | CA35575186 | SYT2 | c.1119G>T (p.Lys373Asn) c.1128G>T (p.Lys376Asn) c.1299G>T (p.Lys433Asn) c.1290G>T (p.Lys430Asn) | dbSNP |
1 | g.202596898C= | CA1144579679 | SYT2 | c.1119G= (p.Lys373=) c.1128G= (p.Lys376=) c.1299G= (p.Lys433=) c.1290G= (p.Lys430=) | |
1 | g.202596898C>G | CA344256006 | SYT2 | c.1119G>C (p.Lys373Asn) c.1128G>C (p.Lys376Asn) c.1299G>C (p.Lys433Asn) c.1290G>C (p.Lys430Asn) | |
1 | g.202596898C>T | CA422578174 | SYT2 | c.1119G>A (p.Lys373=) c.1128G>A (p.Lys376=) c.1299G>A (p.Lys433=) c.1290G>A (p.Lys430=) | |
1 | g.202596899T>A | CA344256008 | SYT2 | c.1118A>T (p.Lys373Met) c.1127A>T (p.Lys376Met) c.1298A>T (p.Lys433Met) c.1289A>T (p.Lys430Met) | |
1 | g.202596899T>C | CA344256010 | SYT2 | c.1118A>G (p.Lys373Arg) c.1127A>G (p.Lys376Arg) c.1298A>G (p.Lys433Arg) c.1289A>G (p.Lys430Arg) | |
1 | g.202596899T>G | CA344256011 | SYT2 | c.1118A>C (p.Lys373Thr) c.1127A>C (p.Lys376Thr) c.1298A>C (p.Lys433Thr) c.1289A>C (p.Lys430Thr) | |
1 | g.202596900T>A | CA344256013 | SYT2 | c.1117A>T (p.Lys373Ter) c.1126A>T (p.Lys376Ter) c.1297A>T (p.Lys433Ter) c.1288A>T (p.Lys430Ter) | |
1 | g.202596900T>C | CA344256015 | SYT2 | c.1117A>G (p.Lys373Glu) c.1126A>G (p.Lys376Glu) c.1297A>G (p.Lys433Glu) c.1288A>G (p.Lys430Glu) | |
1 | g.202596900T>G | CA344256017 | SYT2 | c.1117A>C (p.Lys373Gln) c.1126A>C (p.Lys376Gln) c.1297A>C (p.Lys433Gln) c.1288A>C (p.Lys430Gln) | |
1 | g.202596901G>A | CA422578175 | SYT2 | c.1116C>T (p.Gly372=) c.1125C>T (p.Gly375=) c.1296C>T (p.Gly432=) c.1287C>T (p.Gly429=) | gnomAD v4 |
1 | g.202596901G>C | CA422578176 | SYT2 | c.1116C>G (p.Gly372=) c.1125C>G (p.Gly375=) c.1296C>G (p.Gly432=) c.1287C>G (p.Gly429=) | |
1 | g.202596901G>T | CA422578177 | SYT2 | c.1116C>A (p.Gly372=) c.1125C>A (p.Gly375=) c.1296C>A (p.Gly432=) c.1287C>A (p.Gly429=) | |
1 | g.202596902C>A | CA344256019 | SYT2 | c.1115G>T (p.Gly372Val) c.1124G>T (p.Gly375Val) c.1295G>T (p.Gly432Val) c.1286G>T (p.Gly429Val) | |
1 | g.202596902C>G | CA344256021 | SYT2 | c.1115G>C (p.Gly372Ala) c.1124G>C (p.Gly375Ala) c.1295G>C (p.Gly432Ala) c.1286G>C (p.Gly429Ala) | |
1 | g.202596902C>T | CA344256022 | SYT2 | c.1115G>A (p.Gly372Asp) c.1124G>A (p.Gly375Asp) c.1295G>A (p.Gly432Asp) c.1286G>A (p.Gly429Asp) | gnomAD v4 |
1 | g.202596903C>A | CA344256024 | SYT2 | c.1114G>T (p.Gly372Cys) c.1123G>T (p.Gly375Cys) c.1294G>T (p.Gly432Cys) c.1285G>T (p.Gly429Cys) | |
1 | g.202596903C= | CA2481403147 | SYT2 | c.1114G= (p.Gly372=) c.1123G= (p.Gly375=) c.1294G= (p.Gly432=) c.1285G= (p.Gly429=) | |
1 | g.202596903C>G | CA344256025 | SYT2 | c.1114G>C (p.Gly372Arg) c.1123G>C (p.Gly375Arg) c.1294G>C (p.Gly432Arg) c.1285G>C (p.Gly429Arg) | gnomAD v4 |
1 | g.202596903C>T | CA344256026 | SYT2 | c.1114G>A (p.Gly372Ser) c.1123G>A (p.Gly375Ser) c.1294G>A (p.Gly432Ser) c.1285G>A (p.Gly429Ser) | |
1 | g.202596904T>A | CA422578178 | SYT2 | c.1113A>T (p.Ile371=) c.1122A>T (p.Ile374=) c.1293A>T (p.Ile431=) c.1284A>T (p.Ile428=) | |
1 | g.202596904T>C | CA344256028 | SYT2 | c.1113A>G (p.Ile371Met) c.1122A>G (p.Ile374Met) c.1293A>G (p.Ile431Met) c.1284A>G (p.Ile428Met) | |
1 | g.202596904T>G | CA422578179 | SYT2 | c.1113A>C (p.Ile371=) c.1122A>C (p.Ile374=) c.1293A>C (p.Ile431=) c.1284A>C (p.Ile428=) | |
1 | g.202596904dup | CA2481403148 | SYT2 | c.1113dup (p.Gly372ArgfsTer?) c.1122dup (p.Gly375ArgfsTer?) c.1293dup (p.Gly432ArgfsTer?) c.1284dup (p.Gly429ArgfsTer?) | dbSNP |
1 | g.202596905A= | CA2481403149 | SYT2 | c.1112T= (p.Ile371=) c.1121T= (p.Ile374=) c.1292T= (p.Ile431=) c.1283T= (p.Ile428=) | |
1 | g.202596905A>C | CA344256031 | SYT2 | c.1112T>G (p.Ile371Arg) c.1121T>G (p.Ile374Arg) c.1292T>G (p.Ile431Arg) c.1283T>G (p.Ile428Arg) | |
1 | g.202596905A>G | CA344256032 | SYT2 | c.1112T>C (p.Ile371Thr) c.1121T>C (p.Ile374Thr) c.1292T>C (p.Ile431Thr) c.1283T>C (p.Ile428Thr) | dbSNP gnomAD v4 |
1 | g.202596905A>T | CA344256034 | SYT2 | c.1112T>A (p.Ile371Lys) c.1121T>A (p.Ile374Lys) c.1292T>A (p.Ile431Lys) c.1283T>A (p.Ile428Lys) | ClinVar dbSNP |
1 | g.202596906T>A | CA344256037 | SYT2 | c.1111A>T (p.Ile371Leu) c.1120A>T (p.Ile374Leu) c.1291A>T (p.Ile431Leu) c.1282A>T (p.Ile428Leu) | |
1 | g.202596906T>C | CA344256039 | SYT2 | c.1111A>G (p.Ile371Val) c.1120A>G (p.Ile374Val) c.1291A>G (p.Ile431Val) c.1282A>G (p.Ile428Val) | |
1 | g.202596906T>G | CA344256040 | SYT2 | c.1111A>C (p.Ile371Leu) c.1120A>C (p.Ile374Leu) c.1291A>C (p.Ile431Leu) c.1282A>C (p.Ile428Leu) | |
1 | g.202596907G>A | CA422578180 | SYT2 | c.1110C>T (p.Ala370=) c.1119C>T (p.Ala373=) c.1290C>T (p.Ala430=) c.1281C>T (p.Ala427=) | gnomAD v4 |
1 | g.202596907G>C | CA422578181 | SYT2 | c.1110C>G (p.Ala370=) c.1119C>G (p.Ala373=) c.1290C>G (p.Ala430=) c.1281C>G (p.Ala427=) | |
1 | g.202596907G>T | CA422578182 | SYT2 | c.1110C>A (p.Ala370=) c.1119C>A (p.Ala373=) c.1290C>A (p.Ala430=) c.1281C>A (p.Ala427=) | |
1 | g.202596908G>A | CA344256042 | SYT2 | c.1109C>T (p.Ala370Val) c.1118C>T (p.Ala373Val) c.1289C>T (p.Ala430Val) c.1280C>T (p.Ala427Val) | gnomAD v4 |
1 | g.202596908G>C | CA344256044 | SYT2 | c.1109C>G (p.Ala370Gly) c.1118C>G (p.Ala373Gly) c.1289C>G (p.Ala430Gly) c.1280C>G (p.Ala427Gly) | |
1 | g.202596908G>T | CA344256046 | SYT2 | c.1109C>A (p.Ala370Asp) c.1118C>A (p.Ala373Asp) c.1289C>A (p.Ala430Asp) c.1280C>A (p.Ala427Asp) | |
1 | g.202596909C>A | CA344256048 | SYT2 | c.1108G>T (p.Ala370Ser) c.1117G>T (p.Ala373Ser) c.1288G>T (p.Ala430Ser) c.1279G>T (p.Ala427Ser) | COSMIC |
1 | g.202596909C= | CA2481403150 | SYT2 | c.1108G= (p.Ala370=) c.1117G= (p.Ala373=) c.1288G= (p.Ala430=) c.1279G= (p.Ala427=) | |
1 | g.202596909C>G | CA344256050 | SYT2 | c.1108G>C (p.Ala370Pro) c.1117G>C (p.Ala373Pro) c.1288G>C (p.Ala430Pro) c.1279G>C (p.Ala427Pro) | |
1 | g.202596909C>T | CA344256051 | SYT2 | c.1108G>A (p.Ala370Thr) c.1117G>A (p.Ala373Thr) c.1288G>A (p.Ala430Thr) c.1279G>A (p.Ala427Thr) | dbSNP |
1 | g.202596910T>A | CA344256053 | SYT2 | c.1107A>T (p.Glu369Asp) c.1116A>T (p.Glu372Asp) c.1287A>T (p.Glu429Asp) c.1278A>T (p.Glu426Asp) | |
1 | g.202596910T>C | CA422578183 | SYT2 | c.1107A>G (p.Glu369=) c.1116A>G (p.Glu372=) c.1287A>G (p.Glu429=) c.1278A>G (p.Glu426=) | gnomAD v4 |
1 | g.202596910T>G | CA344256055 | SYT2 | c.1107A>C (p.Glu369Asp) c.1116A>C (p.Glu372Asp) c.1287A>C (p.Glu429Asp) c.1278A>C (p.Glu426Asp) |