Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.202596911T>A | CA344256061 | SYT2 | c.1106A>T (p.Glu369Val) c.1115A>T (p.Glu372Val) c.1286A>T (p.Glu429Val) c.1277A>T (p.Glu426Val) | |
1 | g.202596911T>C | CA344256059 | SYT2 | c.1106A>G (p.Glu369Gly) c.1115A>G (p.Glu372Gly) c.1286A>G (p.Glu429Gly) c.1277A>G (p.Glu426Gly) | |
1 | g.202596911T>G | CA344256057 | SYT2 | c.1106A>C (p.Glu369Ala) c.1115A>C (p.Glu372Ala) c.1286A>C (p.Glu429Ala) c.1277A>C (p.Glu426Ala) | |
1 | g.202596912C>A | CA344256065 | SYT2 | c.1105G>T (p.Glu369Ter) c.1114G>T (p.Glu372Ter) c.1285G>T (p.Glu429Ter) c.1276G>T (p.Glu426Ter) | |
1 | g.202596912C= | CA2481403151 | SYT2 | c.1105G= (p.Glu369=) c.1114G= (p.Glu372=) c.1285G= (p.Glu429=) c.1276G= (p.Glu426=) | |
1 | g.202596912C>G | CA344256063 | SYT2 | c.1105G>C (p.Glu369Gln) c.1114G>C (p.Glu372Gln) c.1285G>C (p.Glu429Gln) c.1276G>C (p.Glu426Gln) | |
1 | g.202596912C>T | CA344256066 | SYT2 | c.1105G>A (p.Glu369Lys) c.1114G>A (p.Glu372Lys) c.1285G>A (p.Glu429Lys) c.1276G>A (p.Glu426Lys) | dbSNP gnomAD v4 |
1 | g.202596913G>A | CA1333605 | SYT2 | c.1104C>T (p.Asn368=) c.1113C>T (p.Asn371=) c.1284C>T (p.Asn428=) c.1275C>T (p.Asn425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596913G>C | CA344256070 | SYT2 | c.1104C>G (p.Asn368Lys) c.1113C>G (p.Asn371Lys) c.1284C>G (p.Asn428Lys) c.1275C>G (p.Asn425Lys) | |
1 | g.202596913G= | CA1142059920 | SYT2 | c.1104C= (p.Asn368=) c.1113C= (p.Asn371=) c.1284C= (p.Asn428=) c.1275C= (p.Asn425=) | |
1 | g.202596913G>T | CA344256068 | SYT2 | c.1104C>A (p.Asn368Lys) c.1113C>A (p.Asn371Lys) c.1284C>A (p.Asn428Lys) c.1275C>A (p.Asn425Lys) | |
1 | g.202596914T>A | CA344256071 | SYT2 | c.1103A>T (p.Asn368Ile) c.1112A>T (p.Asn371Ile) c.1283A>T (p.Asn428Ile) c.1274A>T (p.Asn425Ile) | |
1 | g.202596914T>C | CA344256075 | SYT2 | c.1103A>G (p.Asn368Ser) c.1112A>G (p.Asn371Ser) c.1283A>G (p.Asn428Ser) c.1274A>G (p.Asn425Ser) | |
1 | g.202596914T>G | CA344256073 | SYT2 | c.1103A>C (p.Asn368Thr) c.1112A>C (p.Asn371Thr) c.1283A>C (p.Asn428Thr) c.1274A>C (p.Asn425Thr) | ClinVar dbSNP |
1 | g.202596915T>A | CA344256077 | SYT2 | c.1102A>T (p.Asn368Tyr) c.1111A>T (p.Asn371Tyr) c.1282A>T (p.Asn428Tyr) c.1273A>T (p.Asn425Tyr) | |
1 | g.202596915T>C | CA1333606 | SYT2 | c.1102A>G (p.Asn368Asp) c.1111A>G (p.Asn371Asp) c.1282A>G (p.Asn428Asp) c.1273A>G (p.Asn425Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596915T>G | CA344256079 | SYT2 | c.1102A>C (p.Asn368His) c.1111A>C (p.Asn371His) c.1282A>C (p.Asn428His) c.1273A>C (p.Asn425His) | |
1 | g.202596915T= | CA2481403152 | SYT2 | c.1102A= (p.Asn368=) c.1111A= (p.Asn371=) c.1282A= (p.Asn428=) c.1273A= (p.Asn425=) | |
1 | g.202596916C>A | CA344256080 | SYT2 | c.1101G>T (p.Lys367Asn) c.1110G>T (p.Lys370Asn) c.1281G>T (p.Lys427Asn) c.1272G>T (p.Lys424Asn) | |
1 | g.202596916C>G | CA344256082 | SYT2 | c.1101G>C (p.Lys367Asn) c.1110G>C (p.Lys370Asn) c.1281G>C (p.Lys427Asn) c.1272G>C (p.Lys424Asn) | |
1 | g.202596916C>T | CA422578184 | SYT2 | c.1101G>A (p.Lys367=) c.1110G>A (p.Lys370=) c.1281G>A (p.Lys427=) c.1272G>A (p.Lys424=) | |
1 | g.202596917T>A | CA344256088 | SYT2 | c.1100A>T (p.Lys367Met) c.1109A>T (p.Lys370Met) c.1280A>T (p.Lys427Met) c.1271A>T (p.Lys424Met) | |
1 | g.202596917T>C | CA344256086 | SYT2 | c.1100A>G (p.Lys367Arg) c.1109A>G (p.Lys370Arg) c.1280A>G (p.Lys427Arg) c.1271A>G (p.Lys424Arg) | |
1 | g.202596917T>G | CA344256085 | SYT2 | c.1100A>C (p.Lys367Thr) c.1109A>C (p.Lys370Thr) c.1280A>C (p.Lys427Thr) c.1271A>C (p.Lys424Thr) | |
1 | g.202596918T>A | CA344256090 | SYT2 | c.1099A>T (p.Lys367Ter) c.1108A>T (p.Lys370Ter) c.1279A>T (p.Lys427Ter) c.1270A>T (p.Lys424Ter) | |
1 | g.202596918T>C | CA344256092 | SYT2 | c.1099A>G (p.Lys367Glu) c.1108A>G (p.Lys370Glu) c.1279A>G (p.Lys427Glu) c.1270A>G (p.Lys424Glu) | |
1 | g.202596918T>G | CA344256094 | SYT2 | c.1099A>C (p.Lys367Gln) c.1108A>C (p.Lys370Gln) c.1279A>C (p.Lys427Gln) c.1270A>C (p.Lys424Gln) | |
1 | g.202596919G>A | CA422578185 | SYT2 | c.1098C>T (p.Gly366=) c.1107C>T (p.Gly369=) c.1278C>T (p.Gly426=) c.1269C>T (p.Gly423=) | gnomAD v4 |
1 | g.202596919G>C | CA422578186 | SYT2 | c.1098C>G (p.Gly366=) c.1107C>G (p.Gly369=) c.1278C>G (p.Gly426=) c.1269C>G (p.Gly423=) | dbSNP |
1 | g.202596919G>T | CA422578187 | SYT2 | c.1098C>A (p.Gly366=) c.1107C>A (p.Gly369=) c.1278C>A (p.Gly426=) c.1269C>A (p.Gly423=) | |
1 | g.202596920C>A | CA344256096 | SYT2 | c.1097G>T (p.Gly366Val) c.1106G>T (p.Gly369Val) c.1277G>T (p.Gly426Val) c.1268G>T (p.Gly423Val) | |
1 | g.202596920C>G | CA344256097 | SYT2 | c.1097G>C (p.Gly366Ala) c.1106G>C (p.Gly369Ala) c.1277G>C (p.Gly426Ala) c.1268G>C (p.Gly423Ala) | |
1 | g.202596920C>T | CA344256098 | SYT2 | c.1097G>A (p.Gly366Asp) c.1106G>A (p.Gly369Asp) c.1277G>A (p.Gly426Asp) c.1268G>A (p.Gly423Asp) | |
1 | g.202596921C>A | CA344256103 | SYT2 | c.1096G>T (p.Gly366Cys) c.1105G>T (p.Gly369Cys) c.1276G>T (p.Gly426Cys) c.1267G>T (p.Gly423Cys) | |
1 | g.202596921C>G | CA344256099 | SYT2 | c.1096G>C (p.Gly366Arg) c.1105G>C (p.Gly369Arg) c.1276G>C (p.Gly426Arg) c.1267G>C (p.Gly423Arg) | |
1 | g.202596921C>T | CA344256101 | SYT2 | c.1096G>A (p.Gly366Ser) c.1105G>A (p.Gly369Ser) c.1276G>A (p.Gly426Ser) c.1267G>A (p.Gly423Ser) | |
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.202596922C>A | CA422578188 | SYT2 | c.1095G>T (p.Leu365=) c.1104G>T (p.Leu368=) c.1275G>T (p.Leu425=) c.1266G>T (p.Leu422=) | COSMIC |
1 | g.202596922C= | CA2481403153 | SYT2 | c.1095G= (p.Leu365=) c.1104G= (p.Leu368=) c.1275G= (p.Leu425=) c.1266G= (p.Leu422=) | |
1 | g.202596922C>G | CA422578189 | SYT2 | c.1095G>C (p.Leu365=) c.1104G>C (p.Leu368=) c.1275G>C (p.Leu425=) c.1266G>C (p.Leu422=) | |
1 | g.202596922C>T | CA422578190 | SYT2 | c.1095G>A (p.Leu365=) c.1104G>A (p.Leu368=) c.1275G>A (p.Leu425=) c.1266G>A (p.Leu422=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596923A>C | CA344256105 | SYT2 | c.1094T>G (p.Leu365Arg) c.1103T>G (p.Leu368Arg) c.1274T>G (p.Leu425Arg) c.1265T>G (p.Leu422Arg) | |
1 | g.202596923A>G | CA344256107 | SYT2 | c.1094T>C (p.Leu365Pro) c.1103T>C (p.Leu368Pro) c.1274T>C (p.Leu425Pro) c.1265T>C (p.Leu422Pro) | ClinVar dbSNP |
1 | g.202596923A>T | CA344256109 | SYT2 | c.1094T>A (p.Leu365Gln) c.1103T>A (p.Leu368Gln) c.1274T>A (p.Leu425Gln) c.1265T>A (p.Leu422Gln) | |
1 | g.202596924G>A | CA422578191 | SYT2 | c.1093C>T (p.Leu365=) c.1102C>T (p.Leu368=) c.1273C>T (p.Leu425=) c.1264C>T (p.Leu422=) | |
1 | g.202596924G>C | CA344256111 | SYT2 | c.1093C>G (p.Leu365Val) c.1102C>G (p.Leu368Val) c.1273C>G (p.Leu425Val) c.1264C>G (p.Leu422Val) | |
1 | g.202596924G>T | CA344256113 | SYT2 | c.1093C>A (p.Leu365Met) c.1102C>A (p.Leu368Met) c.1273C>A (p.Leu425Met) c.1264C>A (p.Leu422Met) | |
1 | g.202596925C>A | CA344256115 | SYT2 | c.1092G>T (p.Lys364Asn) c.1101G>T (p.Lys367Asn) c.1272G>T (p.Lys424Asn) c.1263G>T (p.Lys421Asn) | |
1 | g.202596925C= | CA2481403154 | SYT2 | c.1092G= (p.Lys364=) c.1101G= (p.Lys367=) c.1272G= (p.Lys424=) c.1263G= (p.Lys421=) | |
1 | g.202596925C>G | CA344256117 | SYT2 | c.1092G>C (p.Lys364Asn) c.1101G>C (p.Lys367Asn) c.1272G>C (p.Lys424Asn) c.1263G>C (p.Lys421Asn) | |
1 | g.202596925C>T | CA422578192 | SYT2 | c.1092G>A (p.Lys364=) c.1101G>A (p.Lys367=) c.1272G>A (p.Lys424=) c.1263G>A (p.Lys421=) | dbSNP gnomAD v4 |
1 | g.202596926T>A | CA344256119 | SYT2 | c.1091A>T (p.Lys364Met) c.1100A>T (p.Lys367Met) c.1271A>T (p.Lys424Met) c.1262A>T (p.Lys421Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596926T>C | CA344256121 | SYT2 | c.1091A>G (p.Lys364Arg) c.1100A>G (p.Lys367Arg) c.1271A>G (p.Lys424Arg) c.1262A>G (p.Lys421Arg) | |
1 | g.202596926T>G | CA344256122 | SYT2 | c.1091A>C (p.Lys364Thr) c.1100A>C (p.Lys367Thr) c.1271A>C (p.Lys424Thr) c.1262A>C (p.Lys421Thr) | |
1 | g.202596926T= | CA2481403155 | SYT2 | c.1091A= (p.Lys364=) c.1100A= (p.Lys367=) c.1271A= (p.Lys424=) c.1262A= (p.Lys421=) | |
1 | g.202596927T>A | CA344256125 | SYT2 | c.1090A>T (p.Lys364Ter) c.1099A>T (p.Lys367Ter) c.1270A>T (p.Lys424Ter) c.1261A>T (p.Lys421Ter) | |
1 | g.202596927T>C | CA344256126 | SYT2 | c.1090A>G (p.Lys364Glu) c.1099A>G (p.Lys367Glu) c.1270A>G (p.Lys424Glu) c.1261A>G (p.Lys421Glu) | |
1 | g.202596927T>G | CA344256128 | SYT2 | c.1090A>C (p.Lys364Gln) c.1099A>C (p.Lys367Gln) c.1270A>C (p.Lys424Gln) c.1261A>C (p.Lys421Gln) | |
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.202596928G>A | CA422578193 | SYT2 | c.1089C>T (p.Asp363=) c.1098C>T (p.Asp366=) c.1269C>T (p.Asp423=) c.1260C>T (p.Asp420=) | gnomAD v4 |
1 | g.202596928G>C | CA344256130 | SYT2 | c.1089C>G (p.Asp363Glu) c.1098C>G (p.Asp366Glu) c.1269C>G (p.Asp423Glu) c.1260C>G (p.Asp420Glu) | |
1 | g.202596928G>T | CA344256133 | SYT2 | c.1089C>A (p.Asp363Glu) c.1098C>A (p.Asp366Glu) c.1269C>A (p.Asp423Glu) c.1260C>A (p.Asp420Glu) | |
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.202596929T>A | CA344256135 | SYT2 | c.1088A>T (p.Asp363Val) c.1097A>T (p.Asp366Val) c.1268A>T (p.Asp423Val) c.1259A>T (p.Asp420Val) | |
1 | g.202596929T>C | CA344256137 | SYT2 | c.1088A>G (p.Asp363Gly) c.1097A>G (p.Asp366Gly) c.1268A>G (p.Asp423Gly) c.1259A>G (p.Asp420Gly) | dbSNP |
1 | g.202596929T>G | CA344256139 | SYT2 | c.1088A>C (p.Asp363Ala) c.1097A>C (p.Asp366Ala) c.1268A>C (p.Asp423Ala) c.1259A>C (p.Asp420Ala) | |
1 | g.202596929T= | CA2481403157 | SYT2 | c.1088A= (p.Asp363=) c.1097A= (p.Asp366=) c.1268A= (p.Asp423=) c.1259A= (p.Asp420=) | |
1 | g.202596930C>A | CA344256141 | SYT2 | c.1087G>T (p.Asp363Tyr) c.1096G>T (p.Asp366Tyr) c.1267G>T (p.Asp423Tyr) c.1258G>T (p.Asp420Tyr) | |
1 | g.202596930C>G | CA344256143 | SYT2 | c.1087G>C (p.Asp363His) c.1096G>C (p.Asp366His) c.1267G>C (p.Asp423His) c.1258G>C (p.Asp420His) | |
1 | g.202596930C>T | CA344256144 | SYT2 | c.1087G>A (p.Asp363Asn) c.1096G>A (p.Asp366Asn) c.1267G>A (p.Asp423Asn) c.1258G>A (p.Asp420Asn) | |
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) | |
1 | g.202596944G= | CA1149070966 | SYT2 | c.1073C= (p.Thr358=) c.1082C= (p.Thr361=) c.1253C= (p.Thr418=) c.1244C= (p.Thr415=) | |
1 | g.202596944G>T | CA1333608 | SYT2 | c.1073C>A (p.Thr358Asn) c.1082C>A (p.Thr361Asn) c.1253C>A (p.Thr418Asn) c.1244C>A (p.Thr415Asn) | dbSNP ExAC gnomAD v2 |
1 | g.202596945T>A | CA344256194 | SYT2 | c.1072A>T (p.Thr358Ser) c.1081A>T (p.Thr361Ser) c.1252A>T (p.Thr418Ser) c.1243A>T (p.Thr415Ser) | |
1 | g.202596945T>C | CA344256195 | SYT2 | c.1072A>G (p.Thr358Ala) c.1081A>G (p.Thr361Ala) c.1252A>G (p.Thr418Ala) c.1243A>G (p.Thr415Ala) | |
1 | g.202596945T>G | CA344256197 | SYT2 | c.1072A>C (p.Thr358Pro) c.1081A>C (p.Thr361Pro) c.1252A>C (p.Thr418Pro) c.1243A>C (p.Thr415Pro) |