| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.202596926_202596940del | CA2499214410 | SYT2 | c.1082_1096del (p.Asp361_Leu365del) c.1091_1105del (p.Asp364_Leu368del) c.1262_1276del (p.Asp421_Leu425del) c.1253_1267del (p.Asp418_Leu422del) | ClinVar dbSNP |
| 1 | g.202596927_202596933delinsTGTCATA | CA2481403156 | SYT2 | c.1084_1090delinsTATGACA (p.Tyr362=) c.1093_1099delinsTATGACA (p.Tyr365=) c.1264_1270delinsTATGACA (p.Tyr422=) c.1255_1261delinsTATGACA (p.Tyr419=) | |
| 1 | g.202596931_202596936del | CA16043364 | SYT2 | c.1084_1089del (p.Tyr362_Asp363del) c.1093_1098del (p.Tyr365_Asp366del) c.1264_1269del (p.Tyr422_Asp423del) c.1255_1260del (p.Tyr419_Asp420del) | ClinVar dbSNP |
| 1 | g.202596931A>C | CA344256145 | SYT2 | c.1086T>G (p.Tyr362Ter) c.1095T>G (p.Tyr365Ter) c.1266T>G (p.Tyr422Ter) c.1257T>G (p.Tyr419Ter) | |
| 1 | g.202596931A>G | CA422578194 | SYT2 | c.1086T>C (p.Tyr362=) c.1095T>C (p.Tyr365=) c.1266T>C (p.Tyr422=) c.1257T>C (p.Tyr419=) | |
| 1 | g.202596931A>T | CA344256147 | SYT2 | c.1086T>A (p.Tyr362Ter) c.1095T>A (p.Tyr365Ter) c.1266T>A (p.Tyr422Ter) c.1257T>A (p.Tyr419Ter) | |
| 1 | g.202596932T>A | CA344256148 | SYT2 | c.1085A>T (p.Tyr362Phe) c.1094A>T (p.Tyr365Phe) c.1265A>T (p.Tyr422Phe) c.1256A>T (p.Tyr419Phe) | |
| 1 | g.202596932T>C | CA344256150 | SYT2 | c.1085A>G (p.Tyr362Cys) c.1094A>G (p.Tyr365Cys) c.1265A>G (p.Tyr422Cys) c.1256A>G (p.Tyr419Cys) | |
| 1 | g.202596932T>G | CA344256152 | SYT2 | c.1085A>C (p.Tyr362Ser) c.1094A>C (p.Tyr365Ser) c.1265A>C (p.Tyr422Ser) c.1256A>C (p.Tyr419Ser) | |
| 1 | g.202596933del | CA2573981620 | SYT2 | c.1084del (p.Tyr362MetfsTer10) c.1093del (p.Tyr365MetfsTer10) c.1264del (p.Tyr422MetfsTer10) c.1255del (p.Tyr419MetfsTer10) | |
| 1 | g.202596933A>C | CA344256154 | SYT2 | c.1084T>G (p.Tyr362Asp) c.1093T>G (p.Tyr365Asp) c.1264T>G (p.Tyr422Asp) c.1255T>G (p.Tyr419Asp) | |
| 1 | g.202596933A>G | CA344256156 | SYT2 | c.1084T>C (p.Tyr362His) c.1093T>C (p.Tyr365His) c.1264T>C (p.Tyr422His) c.1255T>C (p.Tyr419His) | |
| 1 | g.202596933A>T | CA344256157 | SYT2 | c.1084T>A (p.Tyr362Asn) c.1093T>A (p.Tyr365Asn) c.1264T>A (p.Tyr422Asn) c.1255T>A (p.Tyr419Asn) | |
| 1 | g.202596934G>A | CA422578195 | SYT2 | c.1083C>T (p.Asp361=) c.1092C>T (p.Asp364=) c.1263C>T (p.Asp421=) c.1254C>T (p.Asp418=) | |
| 1 | g.202596934G>C | CA344256158 | SYT2 | c.1083C>G (p.Asp361Glu) c.1092C>G (p.Asp364Glu) c.1263C>G (p.Asp421Glu) c.1254C>G (p.Asp418Glu) | |
| 1 | g.202596934G>T | CA344256160 | SYT2 | c.1083C>A (p.Asp361Glu) c.1092C>A (p.Asp364Glu) c.1263C>A (p.Asp421Glu) c.1254C>A (p.Asp418Glu) | |
| 1 | g.202596935T>A | CA344256162 | SYT2 | c.1082A>T (p.Asp361Val) c.1091A>T (p.Asp364Val) c.1262A>T (p.Asp421Val) c.1253A>T (p.Asp418Val) | |
| 1 | g.202596935T>C | CA344256164 | SYT2 | c.1082A>G (p.Asp361Gly) c.1091A>G (p.Asp364Gly) c.1262A>G (p.Asp421Gly) c.1253A>G (p.Asp418Gly) | |
| 1 | g.202596935T>G | CA344256165 | SYT2 | c.1082A>C (p.Asp361Ala) c.1091A>C (p.Asp364Ala) c.1262A>C (p.Asp421Ala) c.1253A>C (p.Asp418Ala) | |
| 1 | g.202596936C>A | CA344256167 | SYT2 | c.1081G>T (p.Asp361Tyr) c.1090G>T (p.Asp364Tyr) c.1261G>T (p.Asp421Tyr) c.1252G>T (p.Asp418Tyr) | |
| 1 | g.202596936C= | CA2481403158 | SYT2 | c.1081G= (p.Asp361=) c.1090G= (p.Asp364=) c.1261G= (p.Asp421=) c.1252G= (p.Asp418=) | |
| 1 | g.202596936C>G | CA344256169 | SYT2 | c.1081G>C (p.Asp361His) c.1090G>C (p.Asp364His) c.1261G>C (p.Asp421His) c.1252G>C (p.Asp418His) | ClinVar dbSNP |
| 1 | g.202596936C>T | CA344256170 | SYT2 | c.1081G>A (p.Asp361Asn) c.1090G>A (p.Asp364Asn) c.1261G>A (p.Asp421Asn) c.1252G>A (p.Asp418Asn) | ClinVar |
| 1 | g.202596937C>A | CA422578196 | SYT2 | c.1080G>T (p.Leu360=) c.1089G>T (p.Leu363=) c.1260G>T (p.Leu420=) c.1251G>T (p.Leu417=) | |
| 1 | g.202596937C= | CA2481403159 | SYT2 | c.1080G= (p.Leu360=) c.1089G= (p.Leu363=) c.1260G= (p.Leu420=) c.1251G= (p.Leu417=) | |
| 1 | g.202596937C>G | CA422578197 | SYT2 | c.1080G>C (p.Leu360=) c.1089G>C (p.Leu363=) c.1260G>C (p.Leu420=) c.1251G>C (p.Leu417=) | |
| 1 | g.202596937C>T | CA422578198 | SYT2 | c.1080G>A (p.Leu360=) c.1089G>A (p.Leu363=) c.1260G>A (p.Leu420=) c.1251G>A (p.Leu417=) | dbSNP |
| 1 | g.202596938A>C | CA344256172 | SYT2 | c.1079T>G (p.Leu360Arg) c.1088T>G (p.Leu363Arg) c.1259T>G (p.Leu420Arg) c.1250T>G (p.Leu417Arg) | |
| 1 | g.202596938A>G | CA344256174 | SYT2 | c.1079T>C (p.Leu360Pro) c.1088T>C (p.Leu363Pro) c.1259T>C (p.Leu420Pro) c.1250T>C (p.Leu417Pro) | |
| 1 | g.202596938A>T | CA344256175 | SYT2 | c.1079T>A (p.Leu360Gln) c.1088T>A (p.Leu363Gln) c.1259T>A (p.Leu420Gln) c.1250T>A (p.Leu417Gln) | |
| 1 | g.202596939G>A | CA422578199 | SYT2 | c.1078C>T (p.Leu360=) c.1087C>T (p.Leu363=) c.1258C>T (p.Leu420=) c.1249C>T (p.Leu417=) | |
| 1 | g.202596939G>C | CA344256176 | SYT2 | c.1078C>G (p.Leu360Val) c.1087C>G (p.Leu363Val) c.1258C>G (p.Leu420Val) c.1249C>G (p.Leu417Val) | |
| 1 | g.202596939G>T | CA344256177 | SYT2 | c.1078C>A (p.Leu360Met) c.1087C>A (p.Leu363Met) c.1258C>A (p.Leu420Met) c.1249C>A (p.Leu417Met) | |
| 1 | g.202596940C>A | CA422578200 | SYT2 | c.1077G>T (p.Val359=) c.1086G>T (p.Val362=) c.1257G>T (p.Val419=) c.1248G>T (p.Val416=) | |
| 1 | g.202596940C>G | CA422578201 | SYT2 | c.1077G>C (p.Val359=) c.1086G>C (p.Val362=) c.1257G>C (p.Val419=) c.1248G>C (p.Val416=) | |
| 1 | g.202596940C>T | CA422578202 | SYT2 | c.1077G>A (p.Val359=) c.1086G>A (p.Val362=) c.1257G>A (p.Val419=) c.1248G>A (p.Val416=) | |
| 1 | g.202596941del | CA2508320441 | SYT2 | c.1076del (p.Val359GlyfsTer13) c.1085del (p.Val362GlyfsTer13) c.1256del (p.Val419GlyfsTer13) c.1247del (p.Val416GlyfsTer13) | |
| 1 | g.202596941A>C | CA344256178 | SYT2 | c.1076T>G (p.Val359Gly) c.1085T>G (p.Val362Gly) c.1256T>G (p.Val419Gly) c.1247T>G (p.Val416Gly) | |
| 1 | g.202596941A>G | CA344256180 | SYT2 | c.1076T>C (p.Val359Ala) c.1085T>C (p.Val362Ala) c.1256T>C (p.Val419Ala) c.1247T>C (p.Val416Ala) | |
| 1 | g.202596941A>T | CA344256179 | SYT2 | c.1076T>A (p.Val359Glu) c.1085T>A (p.Val362Glu) c.1256T>A (p.Val419Glu) c.1247T>A (p.Val416Glu) | |
| 1 | g.202596942C>A | CA344256182 | SYT2 | c.1075G>T (p.Val359Leu) c.1084G>T (p.Val362Leu) c.1255G>T (p.Val419Leu) c.1246G>T (p.Val416Leu) | |
| 1 | g.202596942C= | CA2481403160 | SYT2 | c.1075G= (p.Val359=) c.1084G= (p.Val362=) c.1255G= (p.Val419=) c.1246G= (p.Val416=) | |
| 1 | g.202596942C>G | CA344256186 | SYT2 | c.1075G>C (p.Val359Leu) c.1084G>C (p.Val362Leu) c.1255G>C (p.Val419Leu) c.1246G>C (p.Val416Leu) | |
| 1 | g.202596942C>T | CA344256183 | SYT2 | c.1075G>A (p.Val359Met) c.1084G>A (p.Val362Met) c.1255G>A (p.Val419Met) c.1246G>A (p.Val416Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.202596943G>A | CA1333607 | SYT2 | c.1074C>T (p.Thr358=) c.1083C>T (p.Thr361=) c.1254C>T (p.Thr418=) c.1245C>T (p.Thr415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.202596943G>C | CA422578203 | SYT2 | c.1074C>G (p.Thr358=) c.1083C>G (p.Thr361=) c.1254C>G (p.Thr418=) c.1245C>G (p.Thr415=) | |
| 1 | g.202596943G= | CA2481403161 | SYT2 | c.1074C= (p.Thr358=) c.1083C= (p.Thr361=) c.1254C= (p.Thr418=) c.1245C= (p.Thr415=) | |
| 1 | g.202596943G>T | CA422578204 | SYT2 | c.1074C>A (p.Thr358=) c.1083C>A (p.Thr361=) c.1254C>A (p.Thr418=) c.1245C>A (p.Thr415=) | |
| 1 | g.202596944G>A | CA344256189 | SYT2 | c.1073C>T (p.Thr358Ile) c.1082C>T (p.Thr361Ile) c.1253C>T (p.Thr418Ile) c.1244C>T (p.Thr415Ile) | gnomAD v4 COSMIC |
| 1 | g.202596944G>C | CA344256191 | SYT2 | c.1073C>G (p.Thr358Ser) c.1082C>G (p.Thr361Ser) c.1253C>G (p.Thr418Ser) c.1244C>G (p.Thr415Ser) |