Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.202596731_202596737delinsAGGTGTG | CA2481403096 | SYT2 | c.*20_*26delinsCACACCT (n.*20_*26delinsCACACCT) | |
1 | g.202596732G>T | CA2649903187 | SYT2 | c.*25C>A (n.*25C>A) | gnomAD v4 |
1 | g.202596732_202596739delinsGGTGTGGG | CA1149039598 | SYT2 | c.*18_*25delinsCCCACACC (n.*18_*25delinsCCCACACC) | |
1 | g.202596734_202596739del | CA1333574 | SYT2 | c.*20_*25del (n.*20_*25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596733G>A | CA35574855 | SYT2 | c.*24C>T (n.*24C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596733G>C | CA2649903193 | SYT2 | c.*24C>G (n.*24C>G) | gnomAD v4 |
1 | g.202596733G= | CA2481403097 | SYT2 | c.*24C= (n.*24C=) | |
1 | g.202596734T>C | CA2649903198 | SYT2 | c.*23A>G (n.*23A>G) | gnomAD v4 |
1 | g.202596734T>G | CA2649903199 | SYT2 | c.*23A>C (n.*23A>C) | gnomAD v4 |
1 | g.202596735G>T | CA2649903201 | SYT2 | c.*22C>A (n.*22C>A) | gnomAD v4 |
1 | g.202596737G>T | CA2747381818 | SYT2 | c.*20C>A (n.*20C>A) | |
1 | g.202596738G>A | CA1333575 | SYT2 | c.*19C>T (n.*19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596738G>C | CA2649903204 | SYT2 | c.*19C>G (n.*19C>G) | gnomAD v4 |
1 | g.202596738G= | CA1147173508 | SYT2 | c.*19C= (n.*19C=) | |
1 | g.202596739G>C | CA2649903205 | SYT2 | c.*18C>G (n.*18C>G) | gnomAD v4 |
1 | g.202596740G>A | CA1333576 | SYT2 | c.*17C>T (n.*17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596740G= | CA1143445722 | SYT2 | c.*17C= (n.*17C=) | |
1 | g.202596740G>T | CA2573981456 | SYT2 | c.*17C>A (n.*17C>A) | gnomAD v4 |
1 | g.202596742C>G | CA2698124614 | SYT2 | c.*15G>C (n.*15G>C) | dbSNP |
1 | g.202596742C>T | CA2649903208 | SYT2 | c.*15G>A (n.*15G>A) | gnomAD v4 |
1 | g.202596744C= | CA2481403098 | SYT2 | c.*13G= (n.*13G=) | |
1 | g.202596744C>T | CA35574907 | SYT2 | c.*13G>A (n.*13G>A) | dbSNP |
1 | g.202596745A= | CA1143469210 | SYT2 | c.*12T= (n.*12T=) | |
1 | g.202596745A>G | CA1333577 | SYT2 | c.*12T>C (n.*12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596746G>A | CA2649903209 | SYT2 | c.*11C>T (n.*11C>T) | gnomAD v4 |
1 | g.202596747C= | CA2481403099 | SYT2 | c.*10G= (n.*10G=) | |
1 | g.202596747C>G | CA1333578 | SYT2 | c.*10G>C (n.*10G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596748C>A | CA2573981461 | SYT2 | c.*9G>T (n.*9G>T) | gnomAD v4 |
1 | g.202596748C= | CA1142828030 | SYT2 | c.*9G= (n.*9G=) | |
1 | g.202596748C>T | CA1333579 | SYT2 | c.*9G>A (n.*9G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.202596749G>A | CA1333580 | SYT2 | c.*8C>T (n.*8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596749G= | CA1144152090 | SYT2 | c.*8C= (n.*8C=) | |
1 | g.202596749G>T | CA1333581 | SYT2 | c.*8C>A (n.*8C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596751T>G | CA2573981495 | SYT2 | c.*6A>C (n.*6A>C) | |
1 | g.202596752G>A | CA1011275216 | SYT2 | c.*5C>T (n.*5C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596752G= | CA2481403100 | SYT2 | c.*5C= (n.*5C=) | |
1 | g.202596752G>T | CA1011275219 | SYT2 | c.*5C>A (n.*5C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596754T>C | CA35574967 | SYT2 | c.*3A>G (n.*3A>G) | dbSNP gnomAD v4 |
1 | g.202596754T= | CA2481403101 | SYT2 | c.*3A= (n.*3A=) | |
1 | g.202596755G>A | CA2481403103 | SYT2 | c.*2C>T (n.*2C>T) | dbSNP gnomAD v4 |
1 | g.202596755G= | CA2481403102 | SYT2 | c.*2C= (n.*2C=) | |
1 | g.202596757C>A | CA344255555 | SYT2 | c.1260G>T (p.Ter420Tyr) c.1269G>T (p.Ter423Tyr) c.1440G>T (p.Ter480Tyr) c.1431G>T (p.Ter477Tyr) | |
1 | g.202596757C>G | CA344255556 | SYT2 | c.1260G>C (p.Ter420Tyr) c.1269G>C (p.Ter423Tyr) c.1440G>C (p.Ter480Tyr) c.1431G>C (p.Ter477Tyr) | |
1 | g.202596757C>T | CA422578063 | SYT2 | c.1260G>A (p.Ter420=) c.1269G>A (p.Ter423=) c.1440G>A (p.Ter480=) c.1431G>A (p.Ter477=) | |
1 | g.202596758T>A | CA344255557 | SYT2 | c.1259A>T (p.Ter420Leu) c.1268A>T (p.Ter423Leu) c.1439A>T (p.Ter480Leu) c.1430A>T (p.Ter477Leu) | |
1 | g.202596758T>C | CA344255559 | SYT2 | c.1259A>G (p.Ter420Trp) c.1268A>G (p.Ter423Trp) c.1439A>G (p.Ter480Trp) c.1430A>G (p.Ter477Trp) | |
1 | g.202596758T>G | CA344255561 | SYT2 | c.1259A>C (p.Ter420Ser) c.1268A>C (p.Ter423Ser) c.1439A>C (p.Ter480Ser) c.1430A>C (p.Ter477Ser) | |
1 | g.202596759A= | CA2481403104 | SYT2 | c.1258T= (p.Ter420=) c.1267T= (p.Ter423=) c.1438T= (p.Ter480=) c.1429T= (p.Ter477=) | |
1 | g.202596759A>C | CA344255566 | SYT2 | c.1258T>G (p.Ter420Glu) c.1267T>G (p.Ter423Glu) c.1438T>G (p.Ter480Glu) c.1429T>G (p.Ter477Glu) | dbSNP gnomAD v4 |
1 | g.202596759A>G | CA344255565 | SYT2 | c.1258T>C (p.Ter420Gln) c.1267T>C (p.Ter423Gln) c.1438T>C (p.Ter480Gln) c.1429T>C (p.Ter477Gln) | gnomAD v4 |
1 | g.202596759A>T | CA344255563 | SYT2 | c.1258T>A (p.Ter420Lys) c.1267T>A (p.Ter423Lys) c.1438T>A (p.Ter480Lys) c.1429T>A (p.Ter477Lys) | gnomAD v4 |
1 | g.202596760C>A | CA344255568 | SYT2 | c.1257G>T (p.Lys419Asn) c.1266G>T (p.Lys422Asn) c.1437G>T (p.Lys479Asn) c.1428G>T (p.Lys476Asn) | |
1 | g.202596760C= | CA2481403105 | SYT2 | c.1257G= (p.Lys419=) c.1266G= (p.Lys422=) c.1437G= (p.Lys479=) c.1428G= (p.Lys476=) | |
1 | g.202596760C>G | CA344255570 | SYT2 | c.1257G>C (p.Lys419Asn) c.1266G>C (p.Lys422Asn) c.1437G>C (p.Lys479Asn) c.1428G>C (p.Lys476Asn) | |
1 | g.202596760C>T | CA422578064 | SYT2 | c.1257G>A (p.Lys419=) c.1266G>A (p.Lys422=) c.1437G>A (p.Lys479=) c.1428G>A (p.Lys476=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596761T>A | CA344255572 | SYT2 | c.1256A>T (p.Lys419Met) c.1265A>T (p.Lys422Met) c.1436A>T (p.Lys479Met) c.1427A>T (p.Lys476Met) | |
1 | g.202596761T>C | CA344255574 | SYT2 | c.1256A>G (p.Lys419Arg) c.1265A>G (p.Lys422Arg) c.1436A>G (p.Lys479Arg) c.1427A>G (p.Lys476Arg) | |
1 | g.202596761T>G | CA344255576 | SYT2 | c.1256A>C (p.Lys419Thr) c.1265A>C (p.Lys422Thr) c.1436A>C (p.Lys479Thr) c.1427A>C (p.Lys476Thr) | |
1 | g.202596762T>A | CA344255577 | SYT2 | c.1255A>T (p.Lys419Ter) c.1264A>T (p.Lys422Ter) c.1435A>T (p.Lys479Ter) c.1426A>T (p.Lys476Ter) | |
1 | g.202596762T>C | CA344255579 | SYT2 | c.1255A>G (p.Lys419Glu) c.1264A>G (p.Lys422Glu) c.1435A>G (p.Lys479Glu) c.1426A>G (p.Lys476Glu) | |
1 | g.202596762T>G | CA344255581 | SYT2 | c.1255A>C (p.Lys419Gln) c.1264A>C (p.Lys422Gln) c.1435A>C (p.Lys479Gln) c.1426A>C (p.Lys476Gln) | |
1 | g.202596763G>A | CA1333582 | SYT2 | c.1254C>T (p.Asn418=) c.1263C>T (p.Asn421=) c.1434C>T (p.Asn478=) c.1425C>T (p.Asn475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596763G>C | CA1333583 | SYT2 | c.1254C>G (p.Asn418Lys) c.1263C>G (p.Asn421Lys) c.1434C>G (p.Asn478Lys) c.1425C>G (p.Asn475Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596763G= | CA1143398260 | SYT2 | c.1254C= (p.Asn418=) c.1263C= (p.Asn421=) c.1434C= (p.Asn478=) c.1425C= (p.Asn475=) | |
1 | g.202596763G>T | CA344255584 | SYT2 | c.1254C>A (p.Asn418Lys) c.1263C>A (p.Asn421Lys) c.1434C>A (p.Asn478Lys) c.1425C>A (p.Asn475Lys) | |
1 | g.202596764T>A | CA344255585 | SYT2 | c.1253A>T (p.Asn418Ile) c.1262A>T (p.Asn421Ile) c.1433A>T (p.Asn478Ile) c.1424A>T (p.Asn475Ile) | |
1 | g.202596764T>C | CA344255587 | SYT2 | c.1253A>G (p.Asn418Ser) c.1262A>G (p.Asn421Ser) c.1433A>G (p.Asn478Ser) c.1424A>G (p.Asn475Ser) | |
1 | g.202596764T>G | CA344255588 | SYT2 | c.1253A>C (p.Asn418Thr) c.1262A>C (p.Asn421Thr) c.1433A>C (p.Asn478Thr) c.1424A>C (p.Asn475Thr) | |
1 | g.202596765T>A | CA344255593 | SYT2 | c.1252A>T (p.Asn418Tyr) c.1261A>T (p.Asn421Tyr) c.1432A>T (p.Asn478Tyr) c.1423A>T (p.Asn475Tyr) | |
1 | g.202596765T>C | CA344255594 | SYT2 | c.1252A>G (p.Asn418Asp) c.1261A>G (p.Asn421Asp) c.1432A>G (p.Asn478Asp) c.1423A>G (p.Asn475Asp) | |
1 | g.202596765T>G | CA344255591 | SYT2 | c.1252A>C (p.Asn418His) c.1261A>C (p.Asn421His) c.1432A>C (p.Asn478His) c.1423A>C (p.Asn475His) | |
1 | g.202596766C>A | CA344255596 | SYT2 | c.1251G>T (p.Lys417Asn) c.1260G>T (p.Lys420Asn) c.1431G>T (p.Lys477Asn) c.1422G>T (p.Lys474Asn) | |
1 | g.202596766C= | CA2481403106 | SYT2 | c.1251G= (p.Lys417=) c.1260G= (p.Lys420=) c.1431G= (p.Lys477=) c.1422G= (p.Lys474=) | |
1 | g.202596766C>G | CA344255598 | SYT2 | c.1251G>C (p.Lys417Asn) c.1260G>C (p.Lys420Asn) c.1431G>C (p.Lys477Asn) c.1422G>C (p.Lys474Asn) | COSMIC |
1 | g.202596766C>T | CA422578067 | SYT2 | c.1251G>A (p.Lys417=) c.1260G>A (p.Lys420=) c.1431G>A (p.Lys477=) c.1422G>A (p.Lys474=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596767T>A | CA344255599 | SYT2 | c.1250A>T (p.Lys417Met) c.1259A>T (p.Lys420Met) c.1430A>T (p.Lys477Met) c.1421A>T (p.Lys474Met) | |
1 | g.202596767T>C | CA344255601 | SYT2 | c.1250A>G (p.Lys417Arg) c.1259A>G (p.Lys420Arg) c.1430A>G (p.Lys477Arg) c.1421A>G (p.Lys474Arg) | |
1 | g.202596767T>G | CA344255603 | SYT2 | c.1250A>C (p.Lys417Thr) c.1259A>C (p.Lys420Thr) c.1430A>C (p.Lys477Thr) c.1421A>C (p.Lys474Thr) | |
1 | g.202596768T>A | CA344255605 | SYT2 | c.1249A>T (p.Lys417Ter) c.1258A>T (p.Lys420Ter) c.1429A>T (p.Lys477Ter) c.1420A>T (p.Lys474Ter) | |
1 | g.202596768T>C | CA344255607 | SYT2 | c.1249A>G (p.Lys417Glu) c.1258A>G (p.Lys420Glu) c.1429A>G (p.Lys477Glu) c.1420A>G (p.Lys474Glu) | |
1 | g.202596768T>G | CA344255609 | SYT2 | c.1249A>C (p.Lys417Gln) c.1258A>C (p.Lys420Gln) c.1429A>C (p.Lys477Gln) c.1420A>C (p.Lys474Gln) | |
1 | g.202596769G>A | CA422578068 | SYT2 | c.1248C>T (p.Gly416=) c.1257C>T (p.Gly419=) c.1428C>T (p.Gly476=) c.1419C>T (p.Gly473=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.202596769G>C | CA422578069 | SYT2 | c.1248C>G (p.Gly416=) c.1257C>G (p.Gly419=) c.1428C>G (p.Gly476=) c.1419C>G (p.Gly473=) | gnomAD v4 |
1 | g.202596769G= | CA2481403107 | SYT2 | c.1248C= (p.Gly416=) c.1257C= (p.Gly419=) c.1428C= (p.Gly476=) c.1419C= (p.Gly473=) | |
1 | g.202596769G>T | CA422578070 | SYT2 | c.1248C>A (p.Gly416=) c.1257C>A (p.Gly419=) c.1428C>A (p.Gly476=) c.1419C>A (p.Gly473=) | |
1 | g.202596770C>A | CA344255610 | SYT2 | c.1247G>T (p.Gly416Val) c.1256G>T (p.Gly419Val) c.1427G>T (p.Gly476Val) c.1418G>T (p.Gly473Val) | |
1 | g.202596770C>G | CA344255612 | SYT2 | c.1247G>C (p.Gly416Ala) c.1256G>C (p.Gly419Ala) c.1427G>C (p.Gly476Ala) c.1418G>C (p.Gly473Ala) | gnomAD v4 |
1 | g.202596770C>T | CA344255614 | SYT2 | c.1247G>A (p.Gly416Asp) c.1256G>A (p.Gly419Asp) c.1427G>A (p.Gly476Asp) c.1418G>A (p.Gly473Asp) | |
1 | g.202596771C>A | CA344255619 | SYT2 | c.1246G>T (p.Gly416Cys) c.1255G>T (p.Gly419Cys) c.1426G>T (p.Gly476Cys) c.1417G>T (p.Gly473Cys) | |
1 | g.202596771C>G | CA344255617 | SYT2 | c.1246G>C (p.Gly416Arg) c.1255G>C (p.Gly419Arg) c.1426G>C (p.Gly476Arg) c.1417G>C (p.Gly473Arg) | |
1 | g.202596771C>T | CA344255616 | SYT2 | c.1246G>A (p.Gly416Ser) c.1255G>A (p.Gly419Ser) c.1426G>A (p.Gly476Ser) c.1417G>A (p.Gly473Ser) | |
1 | g.202596772C>A | CA422578071 | SYT2 | c.1245G>T (p.Leu415=) c.1254G>T (p.Leu418=) c.1425G>T (p.Leu475=) c.1416G>T (p.Leu472=) | |
1 | g.202596772C= | CA2481403108 | SYT2 | c.1245G= (p.Leu415=) c.1254G= (p.Leu418=) c.1425G= (p.Leu475=) c.1416G= (p.Leu472=) | |
1 | g.202596772C>G | CA422578072 | SYT2 | c.1245G>C (p.Leu415=) c.1254G>C (p.Leu418=) c.1425G>C (p.Leu475=) c.1416G>C (p.Leu472=) | |
1 | g.202596772C>T | CA422578073 | SYT2 | c.1245G>A (p.Leu415=) c.1254G>A (p.Leu418=) c.1425G>A (p.Leu475=) c.1416G>A (p.Leu472=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.202596773A>C | CA344255621 | SYT2 | c.1244T>G (p.Leu415Arg) c.1253T>G (p.Leu418Arg) c.1424T>G (p.Leu475Arg) c.1415T>G (p.Leu472Arg) | gnomAD v4 |
1 | g.202596773A>G | CA344255623 | SYT2 | c.1244T>C (p.Leu415Pro) c.1253T>C (p.Leu418Pro) c.1424T>C (p.Leu475Pro) c.1415T>C (p.Leu472Pro) | |
1 | g.202596773A>T | CA344255624 | SYT2 | c.1244T>A (p.Leu415Gln) c.1253T>A (p.Leu418Gln) c.1424T>A (p.Leu475Gln) c.1415T>A (p.Leu472Gln) | |
1 | g.202596774G>A | CA422578074 | SYT2 | c.1243C>T (p.Leu415=) c.1252C>T (p.Leu418=) c.1423C>T (p.Leu475=) c.1414C>T (p.Leu472=) | |
1 | g.202596774G>C | CA344255626 | SYT2 | c.1243C>G (p.Leu415Val) c.1252C>G (p.Leu418Val) c.1423C>G (p.Leu475Val) c.1414C>G (p.Leu472Val) | |
1 | g.202596774G>T | CA344255627 | SYT2 | c.1243C>A (p.Leu415Met) c.1252C>A (p.Leu418Met) c.1423C>A (p.Leu475Met) c.1414C>A (p.Leu472Met) | |
1 | g.202596775G>A | CA1333584 | SYT2 | c.1242C>T (p.Leu414=) c.1251C>T (p.Leu417=) c.1422C>T (p.Leu474=) c.1413C>T (p.Leu471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596775G>C | CA422578075 | SYT2 | c.1242C>G (p.Leu414=) c.1251C>G (p.Leu417=) c.1422C>G (p.Leu474=) c.1413C>G (p.Leu471=) | |
1 | g.202596775G= | CA2481403109 | SYT2 | c.1242C= (p.Leu414=) c.1251C= (p.Leu417=) c.1422C= (p.Leu474=) c.1413C= (p.Leu471=) | |
1 | g.202596775G>T | CA422578076 | SYT2 | c.1242C>A (p.Leu414=) c.1251C>A (p.Leu417=) c.1422C>A (p.Leu474=) c.1413C>A (p.Leu471=) | |
1 | g.202596776A>C | CA344255630 | SYT2 | c.1241T>G (p.Leu414Arg) c.1250T>G (p.Leu417Arg) c.1421T>G (p.Leu474Arg) c.1412T>G (p.Leu471Arg) | |
1 | g.202596776A>G | CA344255632 | SYT2 | c.1241T>C (p.Leu414Pro) c.1250T>C (p.Leu417Pro) c.1421T>C (p.Leu474Pro) c.1412T>C (p.Leu471Pro) | |
1 | g.202596776A>T | CA344255634 | SYT2 | c.1241T>A (p.Leu414His) c.1250T>A (p.Leu417His) c.1421T>A (p.Leu474His) c.1412T>A (p.Leu471His) | |
1 | g.202596777G>A | CA344255635 | SYT2 | c.1240C>T (p.Leu414Phe) c.1249C>T (p.Leu417Phe) c.1420C>T (p.Leu474Phe) c.1411C>T (p.Leu471Phe) | |
1 | g.202596777G>C | CA344255636 | SYT2 | c.1240C>G (p.Leu414Val) c.1249C>G (p.Leu417Val) c.1420C>G (p.Leu474Val) c.1411C>G (p.Leu471Val) | |
1 | g.202596777G= | CA2481403110 | SYT2 | c.1240C= (p.Leu414=) c.1249C= (p.Leu417=) c.1420C= (p.Leu474=) c.1411C= (p.Leu471=) | |
1 | g.202596777G>T | CA1333585 | SYT2 | c.1240C>A (p.Leu414Ile) c.1249C>A (p.Leu417Ile) c.1420C>A (p.Leu474Ile) c.1411C>A (p.Leu471Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596778T>A | CA422578077 | SYT2 | c.1239A>T (p.Ala413=) c.1248A>T (p.Ala416=) c.1419A>T (p.Ala473=) c.1410A>T (p.Ala470=) | |
1 | g.202596778T>C | CA422578078 | SYT2 | c.1239A>G (p.Ala413=) c.1248A>G (p.Ala416=) c.1419A>G (p.Ala473=) c.1410A>G (p.Ala470=) | gnomAD v4 |
1 | g.202596778T>G | CA422578079 | SYT2 | c.1239A>C (p.Ala413=) c.1248A>C (p.Ala416=) c.1419A>C (p.Ala473=) c.1410A>C (p.Ala470=) | |
1 | g.202596779G>A | CA1333586 | SYT2 | c.1238C>T (p.Ala413Val) c.1247C>T (p.Ala416Val) c.1418C>T (p.Ala473Val) c.1409C>T (p.Ala470Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596779G>C | CA344255639 | SYT2 | c.1238C>G (p.Ala413Gly) c.1247C>G (p.Ala416Gly) c.1418C>G (p.Ala473Gly) c.1409C>G (p.Ala470Gly) | |
1 | g.202596779G= | CA1141889976 | SYT2 | c.1238C= (p.Ala413=) c.1247C= (p.Ala416=) c.1418C= (p.Ala473=) c.1409C= (p.Ala470=) | |
1 | g.202596779G>T | CA344255638 | SYT2 | c.1238C>A (p.Ala413Glu) c.1247C>A (p.Ala416Glu) c.1418C>A (p.Ala473Glu) c.1409C>A (p.Ala470Glu) | |
1 | g.202596780C>A | CA344255640 | SYT2 | c.1237G>T (p.Ala413Ser) c.1246G>T (p.Ala416Ser) c.1417G>T (p.Ala473Ser) c.1408G>T (p.Ala470Ser) | |
1 | g.202596780C= | CA2481403111 | SYT2 | c.1237G= (p.Ala413=) c.1246G= (p.Ala416=) c.1417G= (p.Ala473=) c.1408G= (p.Ala470=) | |
1 | g.202596780C>G | CA344255642 | SYT2 | c.1237G>C (p.Ala413Pro) c.1246G>C (p.Ala416Pro) c.1417G>C (p.Ala473Pro) c.1408G>C (p.Ala470Pro) | |
1 | g.202596780C>T | CA344255641 | SYT2 | c.1237G>A (p.Ala413Thr) c.1246G>A (p.Ala416Thr) c.1417G>A (p.Ala473Thr) c.1408G>A (p.Ala470Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596781A>C | CA344255644 | SYT2 | c.1236T>G (p.Asp412Glu) c.1245T>G (p.Asp415Glu) c.1416T>G (p.Asp472Glu) c.1407T>G (p.Asp469Glu) | |
1 | g.202596781A>G | CA422578080 | SYT2 | c.1236T>C (p.Asp412=) c.1245T>C (p.Asp415=) c.1416T>C (p.Asp472=) c.1407T>C (p.Asp469=) | |
1 | g.202596781A>T | CA344255646 | SYT2 | c.1236T>A (p.Asp412Glu) c.1245T>A (p.Asp415Glu) c.1416T>A (p.Asp472Glu) c.1407T>A (p.Asp469Glu) | |
1 | g.202596782T>A | CA344255647 | SYT2 | c.1235A>T (p.Asp412Val) c.1244A>T (p.Asp415Val) c.1415A>T (p.Asp472Val) c.1406A>T (p.Asp469Val) | |
1 | g.202596782T>C | CA344255649 | SYT2 | c.1235A>G (p.Asp412Gly) c.1244A>G (p.Asp415Gly) c.1415A>G (p.Asp472Gly) c.1406A>G (p.Asp469Gly) | |
1 | g.202596782T>G | CA344255651 | SYT2 | c.1235A>C (p.Asp412Ala) c.1244A>C (p.Asp415Ala) c.1415A>C (p.Asp472Ala) c.1406A>C (p.Asp469Ala) | |
1 | g.202596783C>A | CA344255653 | SYT2 | c.1234G>T (p.Asp412Tyr) c.1243G>T (p.Asp415Tyr) c.1414G>T (p.Asp472Tyr) c.1405G>T (p.Asp469Tyr) | |
1 | g.202596783C= | CA2481403112 | SYT2 | c.1234G= (p.Asp412=) c.1243G= (p.Asp415=) c.1414G= (p.Asp472=) c.1405G= (p.Asp469=) | |
1 | g.202596783C>G | CA344255654 | SYT2 | c.1234G>C (p.Asp412His) c.1243G>C (p.Asp415His) c.1414G>C (p.Asp472His) c.1405G>C (p.Asp469His) | gnomAD v4 |
1 | g.202596783C>T | CA344255655 | SYT2 | c.1234G>A (p.Asp412Asn) c.1243G>A (p.Asp415Asn) c.1414G>A (p.Asp472Asn) c.1405G>A (p.Asp469Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.202596784C>A | CA422578081 | SYT2 | c.1233G>T (p.Val411=) c.1242G>T (p.Val414=) c.1413G>T (p.Val471=) c.1404G>T (p.Val468=) | |
1 | g.202596784C= | CA1146522622 | SYT2 | c.1233G= (p.Val411=) c.1242G= (p.Val414=) c.1413G= (p.Val471=) c.1404G= (p.Val468=) | |
1 | g.202596784C>G | CA422578082 | SYT2 | c.1233G>C (p.Val411=) c.1242G>C (p.Val414=) c.1413G>C (p.Val471=) c.1404G>C (p.Val468=) | gnomAD v4 |
1 | g.202596784C>T | CA1333587 | SYT2 | c.1233G>A (p.Val411=) c.1242G>A (p.Val414=) c.1413G>A (p.Val471=) c.1404G>A (p.Val468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596785A>C | CA344255658 | SYT2 | c.1232T>G (p.Val411Gly) c.1241T>G (p.Val414Gly) c.1412T>G (p.Val471Gly) c.1403T>G (p.Val468Gly) | |
1 | g.202596785A>G | CA344255659 | SYT2 | c.1232T>C (p.Val411Ala) c.1241T>C (p.Val414Ala) c.1412T>C (p.Val471Ala) c.1403T>C (p.Val468Ala) | |
1 | g.202596785A>T | CA344255660 | SYT2 | c.1232T>A (p.Val411Glu) c.1241T>A (p.Val414Glu) c.1412T>A (p.Val471Glu) c.1403T>A (p.Val468Glu) | |
1 | g.202596786C>A | CA344255662 | SYT2 | c.1231G>T (p.Val411Leu) c.1240G>T (p.Val414Leu) c.1411G>T (p.Val471Leu) c.1402G>T (p.Val468Leu) | |
1 | g.202596786C>G | CA344255666 | SYT2 | c.1231G>C (p.Val411Leu) c.1240G>C (p.Val414Leu) c.1411G>C (p.Val471Leu) c.1402G>C (p.Val468Leu) | gnomAD v4 |
1 | g.202596786C>T | CA344255664 | SYT2 | c.1231G>A (p.Val411Met) c.1240G>A (p.Val414Met) c.1411G>A (p.Val471Met) c.1402G>A (p.Val468Met) | gnomAD v4 |
1 | g.202596793_202596795del | CA2649903277 | SYT2 | c.1229_1231del (p.Glu410del) c.1238_1240del (p.Glu413del) c.1409_1411del (p.Glu470del) c.1400_1402del (p.Glu467del) | gnomAD v4 |
1 | g.202596787C>A | CA344255667 | SYT2 | c.1230G>T (p.Glu410Asp) c.1239G>T (p.Glu413Asp) c.1410G>T (p.Glu470Asp) c.1401G>T (p.Glu467Asp) | |
1 | g.202596787C>G | CA344255669 | SYT2 | c.1230G>C (p.Glu410Asp) c.1239G>C (p.Glu413Asp) c.1410G>C (p.Glu470Asp) c.1401G>C (p.Glu467Asp) | ClinVar |
1 | g.202596787C>T | CA422578083 | SYT2 | c.1230G>A (p.Glu410=) c.1239G>A (p.Glu413=) c.1410G>A (p.Glu470=) c.1401G>A (p.Glu467=) | |
1 | g.202596788T>A | CA344255671 | SYT2 | c.1229A>T (p.Glu410Val) c.1238A>T (p.Glu413Val) c.1409A>T (p.Glu470Val) c.1400A>T (p.Glu467Val) | |
1 | g.202596788T>C | CA344255672 | SYT2 | c.1229A>G (p.Glu410Gly) c.1238A>G (p.Glu413Gly) c.1409A>G (p.Glu470Gly) c.1400A>G (p.Glu467Gly) | |
1 | g.202596788T>G | CA344255674 | SYT2 | c.1229A>C (p.Glu410Ala) c.1238A>C (p.Glu413Ala) c.1409A>C (p.Glu470Ala) c.1400A>C (p.Glu467Ala) | |
1 | g.202596789C>A | CA344255676 | SYT2 | c.1228G>T (p.Glu410Ter) c.1237G>T (p.Glu413Ter) c.1408G>T (p.Glu470Ter) c.1399G>T (p.Glu467Ter) | |
1 | g.202596789C= | CA2481403113 | SYT2 | c.1228G= (p.Glu410=) c.1237G= (p.Glu413=) c.1408G= (p.Glu470=) c.1399G= (p.Glu467=) | |
1 | g.202596789C>G | CA344255678 | SYT2 | c.1228G>C (p.Glu410Gln) c.1237G>C (p.Glu413Gln) c.1408G>C (p.Glu470Gln) c.1399G>C (p.Glu467Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.202596789C>T | CA344255679 | SYT2 | c.1228G>A (p.Glu410Lys) c.1237G>A (p.Glu413Lys) c.1408G>A (p.Glu470Lys) c.1399G>A (p.Glu467Lys) | |
1 | g.202596790C>A | CA344255681 | SYT2 | c.1227G>T (p.Glu409Asp) c.1236G>T (p.Glu412Asp) c.1407G>T (p.Glu469Asp) c.1398G>T (p.Glu466Asp) | |
1 | g.202596790C>G | CA344255683 | SYT2 | c.1227G>C (p.Glu409Asp) c.1236G>C (p.Glu412Asp) c.1407G>C (p.Glu469Asp) c.1398G>C (p.Glu466Asp) | gnomAD v4 |
1 | g.202596790C>T | CA422578085 | SYT2 | c.1227G>A (p.Glu409=) c.1236G>A (p.Glu412=) c.1407G>A (p.Glu469=) c.1398G>A (p.Glu466=) | |
1 | g.202596791T>A | CA344255687 | SYT2 | c.1226A>T (p.Glu409Val) c.1235A>T (p.Glu412Val) c.1406A>T (p.Glu469Val) c.1397A>T (p.Glu466Val) | |
1 | g.202596791T>C | CA344255688 | SYT2 | c.1226A>G (p.Glu409Gly) c.1235A>G (p.Glu412Gly) c.1406A>G (p.Glu469Gly) c.1397A>G (p.Glu466Gly) | |
1 | g.202596791T>G | CA344255685 | SYT2 | c.1226A>C (p.Glu409Ala) c.1235A>C (p.Glu412Ala) c.1406A>C (p.Glu469Ala) c.1397A>C (p.Glu466Ala) | |
1 | g.202596792C>A | CA344255690 | SYT2 | c.1225G>T (p.Glu409Ter) c.1234G>T (p.Glu412Ter) c.1405G>T (p.Glu469Ter) c.1396G>T (p.Glu466Ter) | |
1 | g.202596792C>G | CA344255692 | SYT2 | c.1225G>C (p.Glu409Gln) c.1234G>C (p.Glu412Gln) c.1405G>C (p.Glu469Gln) c.1396G>C (p.Glu466Gln) | |
1 | g.202596792C>T | CA344255694 | SYT2 | c.1225G>A (p.Glu409Lys) c.1234G>A (p.Glu412Lys) c.1405G>A (p.Glu469Lys) c.1396G>A (p.Glu466Lys) | |
1 | g.202596793C>A | CA344255695 | SYT2 | c.1224G>T (p.Glu408Asp) c.1233G>T (p.Glu411Asp) c.1404G>T (p.Glu468Asp) c.1395G>T (p.Glu465Asp) | |
1 | g.202596793C= | CA1148012660 | SYT2 | c.1224G= (p.Glu408=) c.1233G= (p.Glu411=) c.1404G= (p.Glu468=) c.1395G= (p.Glu465=) | |
1 | g.202596793C>G | CA344255697 | SYT2 | c.1224G>C (p.Glu408Asp) c.1233G>C (p.Glu411Asp) c.1404G>C (p.Glu468Asp) c.1395G>C (p.Glu465Asp) | |
1 | g.202596793C>T | CA1333588 | SYT2 | c.1224G>A (p.Glu408=) c.1233G>A (p.Glu411=) c.1404G>A (p.Glu468=) c.1395G>A (p.Glu465=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596794T>A | CA344255699 | SYT2 | c.1223A>T (p.Glu408Val) c.1232A>T (p.Glu411Val) c.1403A>T (p.Glu468Val) c.1394A>T (p.Glu465Val) | |
1 | g.202596794T>C | CA344255700 | SYT2 | c.1223A>G (p.Glu408Gly) c.1232A>G (p.Glu411Gly) c.1403A>G (p.Glu468Gly) c.1394A>G (p.Glu465Gly) | |
1 | g.202596794T>G | CA35574995 | SYT2 | c.1223A>C (p.Glu408Ala) c.1232A>C (p.Glu411Ala) c.1403A>C (p.Glu468Ala) c.1394A>C (p.Glu465Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596794T= | CA2481403114 | SYT2 | c.1223A= (p.Glu408=) c.1232A= (p.Glu411=) c.1403A= (p.Glu468=) c.1394A= (p.Glu465=) | |
1 | g.202596795C>A | CA344255702 | SYT2 | c.1222G>T (p.Glu408Ter) c.1231G>T (p.Glu411Ter) c.1402G>T (p.Glu468Ter) c.1393G>T (p.Glu465Ter) | |
1 | g.202596795C>G | CA344255704 | SYT2 | c.1222G>C (p.Glu408Gln) c.1231G>C (p.Glu411Gln) c.1402G>C (p.Glu468Gln) c.1393G>C (p.Glu465Gln) | |
1 | g.202596795C>T | CA344255706 | SYT2 | c.1222G>A (p.Glu408Lys) c.1231G>A (p.Glu411Lys) c.1402G>A (p.Glu468Lys) c.1393G>A (p.Glu465Lys) | gnomAD v4 |
1 | g.202596796A>C | CA422578090 | SYT2 | c.1221T>G (p.Pro407=) c.1230T>G (p.Pro410=) c.1401T>G (p.Pro467=) c.1392T>G (p.Pro464=) | gnomAD v4 |
1 | g.202596796A>G | CA422578091 | SYT2 | c.1221T>C (p.Pro407=) c.1230T>C (p.Pro410=) c.1401T>C (p.Pro467=) c.1392T>C (p.Pro464=) | |
1 | g.202596796A>T | CA422578092 | SYT2 | c.1221T>A (p.Pro407=) c.1230T>A (p.Pro410=) c.1401T>A (p.Pro467=) c.1392T>A (p.Pro464=) | |
1 | g.202596797G>A | CA344255709 | SYT2 | c.1220C>T (p.Pro407Leu) c.1229C>T (p.Pro410Leu) c.1400C>T (p.Pro467Leu) c.1391C>T (p.Pro464Leu) | |
1 | g.202596797G>C | CA344255711 | SYT2 | c.1220C>G (p.Pro407Arg) c.1229C>G (p.Pro410Arg) c.1400C>G (p.Pro467Arg) c.1391C>G (p.Pro464Arg) | |
1 | g.202596797G>T | CA344255707 | SYT2 | c.1220C>A (p.Pro407His) c.1229C>A (p.Pro410His) c.1400C>A (p.Pro467His) c.1391C>A (p.Pro464His) | COSMIC |
1 | g.202596798G>A | CA1333589 | SYT2 | c.1219C>T (p.Pro407Ser) c.1228C>T (p.Pro410Ser) c.1399C>T (p.Pro467Ser) c.1390C>T (p.Pro464Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596798G>C | CA344255713 | SYT2 | c.1219C>G (p.Pro407Ala) c.1228C>G (p.Pro410Ala) c.1399C>G (p.Pro467Ala) c.1390C>G (p.Pro464Ala) | |
1 | g.202596798G= | CA2481403115 | SYT2 | c.1219C= (p.Pro407=) c.1228C= (p.Pro410=) c.1399C= (p.Pro467=) c.1390C= (p.Pro464=) | |
1 | g.202596798G>T | CA1333590 | SYT2 | c.1219C>A (p.Pro407Thr) c.1228C>A (p.Pro410Thr) c.1399C>A (p.Pro467Thr) c.1390C>A (p.Pro464Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596799C>A | CA344255716 | SYT2 | c.1218G>T (p.Lys406Asn) c.1227G>T (p.Lys409Asn) c.1398G>T (p.Lys466Asn) c.1389G>T (p.Lys463Asn) | |
1 | g.202596799C= | CA2481403116 | SYT2 | c.1218G= (p.Lys406=) c.1227G= (p.Lys409=) c.1398G= (p.Lys466=) c.1389G= (p.Lys463=) | |
1 | g.202596799C>G | CA344255717 | SYT2 | c.1218G>C (p.Lys406Asn) c.1227G>C (p.Lys409Asn) c.1398G>C (p.Lys466Asn) c.1389G>C (p.Lys463Asn) | |
1 | g.202596799C>T | CA35575029 | SYT2 | c.1218G>A (p.Lys406=) c.1227G>A (p.Lys409=) c.1398G>A (p.Lys466=) c.1389G>A (p.Lys463=) | dbSNP |
1 | g.202596800T>A | CA344255719 | SYT2 | c.1217A>T (p.Lys406Met) c.1226A>T (p.Lys409Met) c.1397A>T (p.Lys466Met) c.1388A>T (p.Lys463Met) | |
1 | g.202596800T>C | CA344255721 | SYT2 | c.1217A>G (p.Lys406Arg) c.1226A>G (p.Lys409Arg) c.1397A>G (p.Lys466Arg) c.1388A>G (p.Lys463Arg) | |
1 | g.202596800T>G | CA344255720 | SYT2 | c.1217A>C (p.Lys406Thr) c.1226A>C (p.Lys409Thr) c.1397A>C (p.Lys466Thr) c.1388A>C (p.Lys463Thr) | |
1 | g.202596801T>A | CA344255722 | SYT2 | c.1216A>T (p.Lys406Ter) c.1225A>T (p.Lys409Ter) c.1396A>T (p.Lys466Ter) c.1387A>T (p.Lys463Ter) | |
1 | g.202596801T>C | CA344255723 | SYT2 | c.1216A>G (p.Lys406Glu) c.1225A>G (p.Lys409Glu) c.1396A>G (p.Lys466Glu) c.1387A>G (p.Lys463Glu) | |
1 | g.202596801T>G | CA344255724 | SYT2 | c.1216A>C (p.Lys406Gln) c.1225A>C (p.Lys409Gln) c.1396A>C (p.Lys466Gln) c.1387A>C (p.Lys463Gln) | |
1 | g.202596802G>A | CA422578103 | SYT2 | c.1215C>T (p.Leu405=) c.1224C>T (p.Leu408=) c.1395C>T (p.Leu465=) c.1386C>T (p.Leu462=) | |
1 | g.202596802G>C | CA1333591 | SYT2 | c.1215C>G (p.Leu405=) c.1224C>G (p.Leu408=) c.1395C>G (p.Leu465=) c.1386C>G (p.Leu462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.202596802G= | CA1148731012 | SYT2 | c.1215C= (p.Leu405=) c.1224C= (p.Leu408=) c.1395C= (p.Leu465=) c.1386C= (p.Leu462=) | |
1 | g.202596802G>T | CA422578105 | SYT2 | c.1215C>A (p.Leu405=) c.1224C>A (p.Leu408=) c.1395C>A (p.Leu465=) c.1386C>A (p.Leu462=) | |
1 | g.202596803A>C | CA344255727 | SYT2 | c.1214T>G (p.Leu405Arg) c.1223T>G (p.Leu408Arg) c.1394T>G (p.Leu465Arg) c.1385T>G (p.Leu462Arg) | |
1 | g.202596803A>G | CA344255726 | SYT2 | c.1214T>C (p.Leu405Pro) c.1223T>C (p.Leu408Pro) c.1394T>C (p.Leu465Pro) c.1385T>C (p.Leu462Pro) | |
1 | g.202596803A>T | CA344255725 | SYT2 | c.1214T>A (p.Leu405His) c.1223T>A (p.Leu408His) c.1394T>A (p.Leu465His) c.1385T>A (p.Leu462His) | |
1 | g.202596804G>A | CA35575036 | SYT2 | c.1213C>T (p.Leu405Phe) c.1222C>T (p.Leu408Phe) c.1393C>T (p.Leu465Phe) c.1384C>T (p.Leu462Phe) | dbSNP |
1 | g.202596804G>C | CA344255729 | SYT2 | c.1213C>G (p.Leu405Val) c.1222C>G (p.Leu408Val) c.1393C>G (p.Leu465Val) c.1384C>G (p.Leu462Val) | |
1 | g.202596804G= | CA1143635172 | SYT2 | c.1213C= (p.Leu405=) c.1222C= (p.Leu408=) c.1393C= (p.Leu465=) c.1384C= (p.Leu462=) | |
1 | g.202596804G>T | CA344255728 | SYT2 | c.1213C>A (p.Leu405Ile) c.1222C>A (p.Leu408Ile) c.1393C>A (p.Leu465Ile) c.1384C>A (p.Leu462Ile) | |
1 | g.202596805C>A | CA422578107 | SYT2 | c.1212G>T (p.Ser404=) c.1221G>T (p.Ser407=) c.1392G>T (p.Ser464=) c.1383G>T (p.Ser461=) | gnomAD v4 |
1 | g.202596805C= | CA2481403117 | SYT2 | c.1212G= (p.Ser404=) c.1221G= (p.Ser407=) c.1392G= (p.Ser464=) c.1383G= (p.Ser461=) | |
1 | g.202596805C>G | CA422578108 | SYT2 | c.1212G>C (p.Ser404=) c.1221G>C (p.Ser407=) c.1392G>C (p.Ser464=) c.1383G>C (p.Ser461=) | gnomAD v4 |
1 | g.202596805C>T | CA1333592 | SYT2 | c.1212G>A (p.Ser404=) c.1221G>A (p.Ser407=) c.1392G>A (p.Ser464=) c.1383G>A (p.Ser461=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.202596806G>A | CA344255731 | SYT2 | c.1211C>T (p.Ser404Leu) c.1220C>T (p.Ser407Leu) c.1391C>T (p.Ser464Leu) c.1382C>T (p.Ser461Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.202596806G>C | CA344255730 | SYT2 | c.1211C>G (p.Ser404Trp) c.1220C>G (p.Ser407Trp) c.1391C>G (p.Ser464Trp) c.1382C>G (p.Ser461Trp) | |
1 | g.202596806G= | CA2481403118 | SYT2 | c.1211C= (p.Ser404=) c.1220C= (p.Ser407=) c.1391C= (p.Ser464=) c.1382C= (p.Ser461=) | |
1 | g.202596806G>T | CA344255732 | SYT2 | c.1211C>A (p.Ser404Ter) c.1220C>A (p.Ser407Ter) c.1391C>A (p.Ser464Ter) c.1382C>A (p.Ser461Ter) | |
1 | g.202596807A>C | CA344255733 | SYT2 | c.1210T>G (p.Ser404Ala) c.1219T>G (p.Ser407Ala) c.1390T>G (p.Ser464Ala) c.1381T>G (p.Ser461Ala) | |
1 | g.202596807A>G | CA344255734 | SYT2 | c.1210T>C (p.Ser404Pro) c.1219T>C (p.Ser407Pro) c.1390T>C (p.Ser464Pro) c.1381T>C (p.Ser461Pro) | |
1 | g.202596807A>T | CA344255735 | SYT2 | c.1210T>A (p.Ser404Thr) c.1219T>A (p.Ser407Thr) c.1390T>A (p.Ser464Thr) c.1381T>A (p.Ser461Thr) | |
1 | g.202596808G>A | CA422578110 | SYT2 | c.1209C>T (p.His403=) c.1218C>T (p.His406=) c.1389C>T (p.His463=) c.1380C>T (p.His460=) | gnomAD v4 |
1 | g.202596808G>C | CA344255736 | SYT2 | c.1209C>G (p.His403Gln) c.1218C>G (p.His406Gln) c.1389C>G (p.His463Gln) c.1380C>G (p.His460Gln) | |
1 | g.202596808G>T | CA344255737 | SYT2 | c.1209C>A (p.His403Gln) c.1218C>A (p.His406Gln) c.1389C>A (p.His463Gln) c.1380C>A (p.His460Gln) | |
1 | g.202596809T>A | CA344255738 | SYT2 | c.1208A>T (p.His403Leu) c.1217A>T (p.His406Leu) c.1388A>T (p.His463Leu) c.1379A>T (p.His460Leu) | |
1 | g.202596809T>C | CA344255739 | SYT2 | c.1208A>G (p.His403Arg) c.1217A>G (p.His406Arg) c.1388A>G (p.His463Arg) c.1379A>G (p.His460Arg) | |
1 | g.202596809T>G | CA344255740 | SYT2 | c.1208A>C (p.His403Pro) c.1217A>C (p.His406Pro) c.1388A>C (p.His463Pro) c.1379A>C (p.His460Pro) | |
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=) |