| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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=) |