Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.202596891C>ACA344255970SYT2c.1126G>T (p.Val376Leu)
c.1135G>T (p.Val379Leu)
c.1306G>T (p.Val436Leu)
c.1297G>T (p.Val433Leu)
1g.202596891C=CA2481403146SYT2c.1126G= (p.Val376=)
c.1135G= (p.Val379=)
c.1306G= (p.Val436=)
c.1297G= (p.Val433=)
1g.202596891C>GCA344255972SYT2c.1126G>C (p.Val376Leu)
c.1135G>C (p.Val379Leu)
c.1306G>C (p.Val436Leu)
c.1297G>C (p.Val433Leu)
 gnomAD v4
1g.202596891C>TCA344255974SYT2c.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
1g.202596892G>ACA1333604SYT2c.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
1g.202596892G>CCA344255978SYT2c.1125C>G (p.Phe375Leu)
c.1134C>G (p.Phe378Leu)
c.1305C>G (p.Phe435Leu)
c.1296C>G (p.Phe432Leu)
1g.202596892G=CA1141676729SYT2c.1125C= (p.Phe375=)
c.1134C= (p.Phe378=)
c.1305C= (p.Phe435=)
c.1296C= (p.Phe432=)
1g.202596892G>TCA344255976SYT2c.1125C>A (p.Phe375Leu)
c.1134C>A (p.Phe378Leu)
c.1305C>A (p.Phe435Leu)
c.1296C>A (p.Phe432Leu)
1g.202596893A>CCA344255980SYT2c.1124T>G (p.Phe375Cys)
c.1133T>G (p.Phe378Cys)
c.1304T>G (p.Phe435Cys)
c.1295T>G (p.Phe432Cys)
1g.202596893A>GCA344255982SYT2c.1124T>C (p.Phe375Ser)
c.1133T>C (p.Phe378Ser)
c.1304T>C (p.Phe435Ser)
c.1295T>C (p.Phe432Ser)
1g.202596893A>TCA344255984SYT2c.1124T>A (p.Phe375Tyr)
c.1133T>A (p.Phe378Tyr)
c.1304T>A (p.Phe435Tyr)
c.1295T>A (p.Phe432Tyr)
1g.202596894A>CCA344255986SYT2c.1123T>G (p.Phe375Val)
c.1132T>G (p.Phe378Val)
c.1303T>G (p.Phe435Val)
c.1294T>G (p.Phe432Val)
1g.202596894A>GCA344255988SYT2c.1123T>C (p.Phe375Leu)
c.1132T>C (p.Phe378Leu)
c.1303T>C (p.Phe435Leu)
c.1294T>C (p.Phe432Leu)
1g.202596894A>TCA344255990SYT2c.1123T>A (p.Phe375Ile)
c.1132T>A (p.Phe378Ile)
c.1303T>A (p.Phe435Ile)
c.1294T>A (p.Phe432Ile)
1g.202596895G>ACA422578172SYT2c.1122C>T (p.Ile374=)
c.1131C>T (p.Ile377=)
c.1302C>T (p.Ile434=)
c.1293C>T (p.Ile431=)
 gnomAD v4
1g.202596895G>CCA344255992SYT2c.1122C>G (p.Ile374Met)
c.1131C>G (p.Ile377Met)
c.1302C>G (p.Ile434Met)
c.1293C>G (p.Ile431Met)
1g.202596895G>TCA422578173SYT2c.1122C>A (p.Ile374=)
c.1131C>A (p.Ile377=)
c.1302C>A (p.Ile434=)
c.1293C>A (p.Ile431=)
1g.202596896A>CCA344255994SYT2c.1121T>G (p.Ile374Ser)
c.1130T>G (p.Ile377Ser)
c.1301T>G (p.Ile434Ser)
c.1292T>G (p.Ile431Ser)
 gnomAD v4
1g.202596896A>GCA344255996SYT2c.1121T>C (p.Ile374Thr)
c.1130T>C (p.Ile377Thr)
c.1301T>C (p.Ile434Thr)
c.1292T>C (p.Ile431Thr)
1g.202596896A>TCA344255998SYT2c.1121T>A (p.Ile374Asn)
c.1130T>A (p.Ile377Asn)
c.1301T>A (p.Ile434Asn)
c.1292T>A (p.Ile431Asn)
1g.202596897T>ACA344256001SYT2c.1120A>T (p.Ile374Phe)
c.1129A>T (p.Ile377Phe)
c.1300A>T (p.Ile434Phe)
c.1291A>T (p.Ile431Phe)
1g.202596897T>CCA344256003SYT2c.1120A>G (p.Ile374Val)
c.1129A>G (p.Ile377Val)
c.1300A>G (p.Ile434Val)
c.1291A>G (p.Ile431Val)
1g.202596897T>GCA344255999SYT2c.1120A>C (p.Ile374Leu)
c.1129A>C (p.Ile377Leu)
c.1300A>C (p.Ile434Leu)
c.1291A>C (p.Ile431Leu)
1g.202596898C>ACA35575186SYT2c.1119G>T (p.Lys373Asn)
c.1128G>T (p.Lys376Asn)
c.1299G>T (p.Lys433Asn)
c.1290G>T (p.Lys430Asn)
 dbSNP
1g.202596898C=CA1144579679SYT2c.1119G= (p.Lys373=)
c.1128G= (p.Lys376=)
c.1299G= (p.Lys433=)
c.1290G= (p.Lys430=)
1g.202596898C>GCA344256006SYT2c.1119G>C (p.Lys373Asn)
c.1128G>C (p.Lys376Asn)
c.1299G>C (p.Lys433Asn)
c.1290G>C (p.Lys430Asn)
1g.202596898C>TCA422578174SYT2c.1119G>A (p.Lys373=)
c.1128G>A (p.Lys376=)
c.1299G>A (p.Lys433=)
c.1290G>A (p.Lys430=)
1g.202596899T>ACA344256008SYT2c.1118A>T (p.Lys373Met)
c.1127A>T (p.Lys376Met)
c.1298A>T (p.Lys433Met)
c.1289A>T (p.Lys430Met)
1g.202596899T>CCA344256010SYT2c.1118A>G (p.Lys373Arg)
c.1127A>G (p.Lys376Arg)
c.1298A>G (p.Lys433Arg)
c.1289A>G (p.Lys430Arg)
1g.202596899T>GCA344256011SYT2c.1118A>C (p.Lys373Thr)
c.1127A>C (p.Lys376Thr)
c.1298A>C (p.Lys433Thr)
c.1289A>C (p.Lys430Thr)
1g.202596900T>ACA344256013SYT2c.1117A>T (p.Lys373Ter)
c.1126A>T (p.Lys376Ter)
c.1297A>T (p.Lys433Ter)
c.1288A>T (p.Lys430Ter)
1g.202596900T>CCA344256015SYT2c.1117A>G (p.Lys373Glu)
c.1126A>G (p.Lys376Glu)
c.1297A>G (p.Lys433Glu)
c.1288A>G (p.Lys430Glu)
1g.202596900T>GCA344256017SYT2c.1117A>C (p.Lys373Gln)
c.1126A>C (p.Lys376Gln)
c.1297A>C (p.Lys433Gln)
c.1288A>C (p.Lys430Gln)
1g.202596901G>ACA422578175SYT2c.1116C>T (p.Gly372=)
c.1125C>T (p.Gly375=)
c.1296C>T (p.Gly432=)
c.1287C>T (p.Gly429=)
 gnomAD v4
1g.202596901G>CCA422578176SYT2c.1116C>G (p.Gly372=)
c.1125C>G (p.Gly375=)
c.1296C>G (p.Gly432=)
c.1287C>G (p.Gly429=)
1g.202596901G>TCA422578177SYT2c.1116C>A (p.Gly372=)
c.1125C>A (p.Gly375=)
c.1296C>A (p.Gly432=)
c.1287C>A (p.Gly429=)
1g.202596902C>ACA344256019SYT2c.1115G>T (p.Gly372Val)
c.1124G>T (p.Gly375Val)
c.1295G>T (p.Gly432Val)
c.1286G>T (p.Gly429Val)
1g.202596902C>GCA344256021SYT2c.1115G>C (p.Gly372Ala)
c.1124G>C (p.Gly375Ala)
c.1295G>C (p.Gly432Ala)
c.1286G>C (p.Gly429Ala)
1g.202596902C>TCA344256022SYT2c.1115G>A (p.Gly372Asp)
c.1124G>A (p.Gly375Asp)
c.1295G>A (p.Gly432Asp)
c.1286G>A (p.Gly429Asp)
 gnomAD v4
1g.202596903C>ACA344256024SYT2c.1114G>T (p.Gly372Cys)
c.1123G>T (p.Gly375Cys)
c.1294G>T (p.Gly432Cys)
c.1285G>T (p.Gly429Cys)
1g.202596903C=CA2481403147SYT2c.1114G= (p.Gly372=)
c.1123G= (p.Gly375=)
c.1294G= (p.Gly432=)
c.1285G= (p.Gly429=)
1g.202596903C>GCA344256025SYT2c.1114G>C (p.Gly372Arg)
c.1123G>C (p.Gly375Arg)
c.1294G>C (p.Gly432Arg)
c.1285G>C (p.Gly429Arg)
 gnomAD v4
1g.202596903C>TCA344256026SYT2c.1114G>A (p.Gly372Ser)
c.1123G>A (p.Gly375Ser)
c.1294G>A (p.Gly432Ser)
c.1285G>A (p.Gly429Ser)
1g.202596904T>ACA422578178SYT2c.1113A>T (p.Ile371=)
c.1122A>T (p.Ile374=)
c.1293A>T (p.Ile431=)
c.1284A>T (p.Ile428=)
1g.202596904T>CCA344256028SYT2c.1113A>G (p.Ile371Met)
c.1122A>G (p.Ile374Met)
c.1293A>G (p.Ile431Met)
c.1284A>G (p.Ile428Met)
1g.202596904T>GCA422578179SYT2c.1113A>C (p.Ile371=)
c.1122A>C (p.Ile374=)
c.1293A>C (p.Ile431=)
c.1284A>C (p.Ile428=)
1g.202596904dupCA2481403148SYT2c.1113dup (p.Gly372ArgfsTer?)
c.1122dup (p.Gly375ArgfsTer?)
c.1293dup (p.Gly432ArgfsTer?)
c.1284dup (p.Gly429ArgfsTer?)
 dbSNP
1g.202596905A=CA2481403149SYT2c.1112T= (p.Ile371=)
c.1121T= (p.Ile374=)
c.1292T= (p.Ile431=)
c.1283T= (p.Ile428=)
1g.202596905A>CCA344256031SYT2c.1112T>G (p.Ile371Arg)
c.1121T>G (p.Ile374Arg)
c.1292T>G (p.Ile431Arg)
c.1283T>G (p.Ile428Arg)
1g.202596905A>GCA344256032SYT2c.1112T>C (p.Ile371Thr)
c.1121T>C (p.Ile374Thr)
c.1292T>C (p.Ile431Thr)
c.1283T>C (p.Ile428Thr)
 dbSNP gnomAD v4
1g.202596905A>TCA344256034SYT2c.1112T>A (p.Ile371Lys)
c.1121T>A (p.Ile374Lys)
c.1292T>A (p.Ile431Lys)
c.1283T>A (p.Ile428Lys)
 ClinVar dbSNP
1g.202596906T>ACA344256037SYT2c.1111A>T (p.Ile371Leu)
c.1120A>T (p.Ile374Leu)
c.1291A>T (p.Ile431Leu)
c.1282A>T (p.Ile428Leu)
1g.202596906T>CCA344256039SYT2c.1111A>G (p.Ile371Val)
c.1120A>G (p.Ile374Val)
c.1291A>G (p.Ile431Val)
c.1282A>G (p.Ile428Val)
1g.202596906T>GCA344256040SYT2c.1111A>C (p.Ile371Leu)
c.1120A>C (p.Ile374Leu)
c.1291A>C (p.Ile431Leu)
c.1282A>C (p.Ile428Leu)
1g.202596907G>ACA422578180SYT2c.1110C>T (p.Ala370=)
c.1119C>T (p.Ala373=)
c.1290C>T (p.Ala430=)
c.1281C>T (p.Ala427=)
 gnomAD v4
1g.202596907G>CCA422578181SYT2c.1110C>G (p.Ala370=)
c.1119C>G (p.Ala373=)
c.1290C>G (p.Ala430=)
c.1281C>G (p.Ala427=)
1g.202596907G>TCA422578182SYT2c.1110C>A (p.Ala370=)
c.1119C>A (p.Ala373=)
c.1290C>A (p.Ala430=)
c.1281C>A (p.Ala427=)
1g.202596908G>ACA344256042SYT2c.1109C>T (p.Ala370Val)
c.1118C>T (p.Ala373Val)
c.1289C>T (p.Ala430Val)
c.1280C>T (p.Ala427Val)
 gnomAD v4
1g.202596908G>CCA344256044SYT2c.1109C>G (p.Ala370Gly)
c.1118C>G (p.Ala373Gly)
c.1289C>G (p.Ala430Gly)
c.1280C>G (p.Ala427Gly)
1g.202596908G>TCA344256046SYT2c.1109C>A (p.Ala370Asp)
c.1118C>A (p.Ala373Asp)
c.1289C>A (p.Ala430Asp)
c.1280C>A (p.Ala427Asp)
1g.202596909C>ACA344256048SYT2c.1108G>T (p.Ala370Ser)
c.1117G>T (p.Ala373Ser)
c.1288G>T (p.Ala430Ser)
c.1279G>T (p.Ala427Ser)
 COSMIC
1g.202596909C=CA2481403150SYT2c.1108G= (p.Ala370=)
c.1117G= (p.Ala373=)
c.1288G= (p.Ala430=)
c.1279G= (p.Ala427=)
1g.202596909C>GCA344256050SYT2c.1108G>C (p.Ala370Pro)
c.1117G>C (p.Ala373Pro)
c.1288G>C (p.Ala430Pro)
c.1279G>C (p.Ala427Pro)
1g.202596909C>TCA344256051SYT2c.1108G>A (p.Ala370Thr)
c.1117G>A (p.Ala373Thr)
c.1288G>A (p.Ala430Thr)
c.1279G>A (p.Ala427Thr)
 dbSNP
1g.202596910T>ACA344256053SYT2c.1107A>T (p.Glu369Asp)
c.1116A>T (p.Glu372Asp)
c.1287A>T (p.Glu429Asp)
c.1278A>T (p.Glu426Asp)
1g.202596910T>CCA422578183SYT2c.1107A>G (p.Glu369=)
c.1116A>G (p.Glu372=)
c.1287A>G (p.Glu429=)
c.1278A>G (p.Glu426=)
 gnomAD v4
1g.202596910T>GCA344256055SYT2c.1107A>C (p.Glu369Asp)
c.1116A>C (p.Glu372Asp)
c.1287A>C (p.Glu429Asp)
c.1278A>C (p.Glu426Asp)
1g.202596911T>ACA344256061SYT2c.1106A>T (p.Glu369Val)
c.1115A>T (p.Glu372Val)
c.1286A>T (p.Glu429Val)
c.1277A>T (p.Glu426Val)
1g.202596911T>CCA344256059SYT2c.1106A>G (p.Glu369Gly)
c.1115A>G (p.Glu372Gly)
c.1286A>G (p.Glu429Gly)
c.1277A>G (p.Glu426Gly)
1g.202596911T>GCA344256057SYT2c.1106A>C (p.Glu369Ala)
c.1115A>C (p.Glu372Ala)
c.1286A>C (p.Glu429Ala)
c.1277A>C (p.Glu426Ala)
1g.202596912C>ACA344256065SYT2c.1105G>T (p.Glu369Ter)
c.1114G>T (p.Glu372Ter)
c.1285G>T (p.Glu429Ter)
c.1276G>T (p.Glu426Ter)
1g.202596912C=CA2481403151SYT2c.1105G= (p.Glu369=)
c.1114G= (p.Glu372=)
c.1285G= (p.Glu429=)
c.1276G= (p.Glu426=)
1g.202596912C>GCA344256063SYT2c.1105G>C (p.Glu369Gln)
c.1114G>C (p.Glu372Gln)
c.1285G>C (p.Glu429Gln)
c.1276G>C (p.Glu426Gln)
1g.202596912C>TCA344256066SYT2c.1105G>A (p.Glu369Lys)
c.1114G>A (p.Glu372Lys)
c.1285G>A (p.Glu429Lys)
c.1276G>A (p.Glu426Lys)
 dbSNP gnomAD v4
1g.202596913G>ACA1333605SYT2c.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
1g.202596913G>CCA344256070SYT2c.1104C>G (p.Asn368Lys)
c.1113C>G (p.Asn371Lys)
c.1284C>G (p.Asn428Lys)
c.1275C>G (p.Asn425Lys)
1g.202596913G=CA1142059920SYT2c.1104C= (p.Asn368=)
c.1113C= (p.Asn371=)
c.1284C= (p.Asn428=)
c.1275C= (p.Asn425=)
1g.202596913G>TCA344256068SYT2c.1104C>A (p.Asn368Lys)
c.1113C>A (p.Asn371Lys)
c.1284C>A (p.Asn428Lys)
c.1275C>A (p.Asn425Lys)
1g.202596914T>ACA344256071SYT2c.1103A>T (p.Asn368Ile)
c.1112A>T (p.Asn371Ile)
c.1283A>T (p.Asn428Ile)
c.1274A>T (p.Asn425Ile)
1g.202596914T>CCA344256075SYT2c.1103A>G (p.Asn368Ser)
c.1112A>G (p.Asn371Ser)
c.1283A>G (p.Asn428Ser)
c.1274A>G (p.Asn425Ser)
1g.202596914T>GCA344256073SYT2c.1103A>C (p.Asn368Thr)
c.1112A>C (p.Asn371Thr)
c.1283A>C (p.Asn428Thr)
c.1274A>C (p.Asn425Thr)
 ClinVar dbSNP
1g.202596915T>ACA344256077SYT2c.1102A>T (p.Asn368Tyr)
c.1111A>T (p.Asn371Tyr)
c.1282A>T (p.Asn428Tyr)
c.1273A>T (p.Asn425Tyr)
1g.202596915T>CCA1333606SYT2c.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
1g.202596915T>GCA344256079SYT2c.1102A>C (p.Asn368His)
c.1111A>C (p.Asn371His)
c.1282A>C (p.Asn428His)
c.1273A>C (p.Asn425His)
1g.202596915T=CA2481403152SYT2c.1102A= (p.Asn368=)
c.1111A= (p.Asn371=)
c.1282A= (p.Asn428=)
c.1273A= (p.Asn425=)
1g.202596916C>ACA344256080SYT2c.1101G>T (p.Lys367Asn)
c.1110G>T (p.Lys370Asn)
c.1281G>T (p.Lys427Asn)
c.1272G>T (p.Lys424Asn)
1g.202596916C>GCA344256082SYT2c.1101G>C (p.Lys367Asn)
c.1110G>C (p.Lys370Asn)
c.1281G>C (p.Lys427Asn)
c.1272G>C (p.Lys424Asn)
1g.202596916C>TCA422578184SYT2c.1101G>A (p.Lys367=)
c.1110G>A (p.Lys370=)
c.1281G>A (p.Lys427=)
c.1272G>A (p.Lys424=)
1g.202596917T>ACA344256088SYT2c.1100A>T (p.Lys367Met)
c.1109A>T (p.Lys370Met)
c.1280A>T (p.Lys427Met)
c.1271A>T (p.Lys424Met)
1g.202596917T>CCA344256086SYT2c.1100A>G (p.Lys367Arg)
c.1109A>G (p.Lys370Arg)
c.1280A>G (p.Lys427Arg)
c.1271A>G (p.Lys424Arg)
1g.202596917T>GCA344256085SYT2c.1100A>C (p.Lys367Thr)
c.1109A>C (p.Lys370Thr)
c.1280A>C (p.Lys427Thr)
c.1271A>C (p.Lys424Thr)
1g.202596918T>ACA344256090SYT2c.1099A>T (p.Lys367Ter)
c.1108A>T (p.Lys370Ter)
c.1279A>T (p.Lys427Ter)
c.1270A>T (p.Lys424Ter)
1g.202596918T>CCA344256092SYT2c.1099A>G (p.Lys367Glu)
c.1108A>G (p.Lys370Glu)
c.1279A>G (p.Lys427Glu)
c.1270A>G (p.Lys424Glu)
1g.202596918T>GCA344256094SYT2c.1099A>C (p.Lys367Gln)
c.1108A>C (p.Lys370Gln)
c.1279A>C (p.Lys427Gln)
c.1270A>C (p.Lys424Gln)
1g.202596919G>ACA422578185SYT2c.1098C>T (p.Gly366=)
c.1107C>T (p.Gly369=)
c.1278C>T (p.Gly426=)
c.1269C>T (p.Gly423=)
 gnomAD v4
1g.202596919G>CCA422578186SYT2c.1098C>G (p.Gly366=)
c.1107C>G (p.Gly369=)
c.1278C>G (p.Gly426=)
c.1269C>G (p.Gly423=)
 dbSNP
1g.202596919G>TCA422578187SYT2c.1098C>A (p.Gly366=)
c.1107C>A (p.Gly369=)
c.1278C>A (p.Gly426=)
c.1269C>A (p.Gly423=)
1g.202596920C>ACA344256096SYT2c.1097G>T (p.Gly366Val)
c.1106G>T (p.Gly369Val)
c.1277G>T (p.Gly426Val)
c.1268G>T (p.Gly423Val)
1g.202596920C>GCA344256097SYT2c.1097G>C (p.Gly366Ala)
c.1106G>C (p.Gly369Ala)
c.1277G>C (p.Gly426Ala)
c.1268G>C (p.Gly423Ala)
1g.202596920C>TCA344256098SYT2c.1097G>A (p.Gly366Asp)
c.1106G>A (p.Gly369Asp)
c.1277G>A (p.Gly426Asp)
c.1268G>A (p.Gly423Asp)
1g.202596921C>ACA344256103SYT2c.1096G>T (p.Gly366Cys)
c.1105G>T (p.Gly369Cys)
c.1276G>T (p.Gly426Cys)
c.1267G>T (p.Gly423Cys)
1g.202596921C>GCA344256099SYT2c.1096G>C (p.Gly366Arg)
c.1105G>C (p.Gly369Arg)
c.1276G>C (p.Gly426Arg)
c.1267G>C (p.Gly423Arg)
1g.202596921C>TCA344256101SYT2c.1096G>A (p.Gly366Ser)
c.1105G>A (p.Gly369Ser)
c.1276G>A (p.Gly426Ser)
c.1267G>A (p.Gly423Ser)
1g.202596926_202596940delCA2499214410SYT2c.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
1g.202596922C>ACA422578188SYT2c.1095G>T (p.Leu365=)
c.1104G>T (p.Leu368=)
c.1275G>T (p.Leu425=)
c.1266G>T (p.Leu422=)
 COSMIC
1g.202596922C=CA2481403153SYT2c.1095G= (p.Leu365=)
c.1104G= (p.Leu368=)
c.1275G= (p.Leu425=)
c.1266G= (p.Leu422=)
1g.202596922C>GCA422578189SYT2c.1095G>C (p.Leu365=)
c.1104G>C (p.Leu368=)
c.1275G>C (p.Leu425=)
c.1266G>C (p.Leu422=)
1g.202596922C>TCA422578190SYT2c.1095G>A (p.Leu365=)
c.1104G>A (p.Leu368=)
c.1275G>A (p.Leu425=)
c.1266G>A (p.Leu422=)
 dbSNP gnomAD v3 gnomAD v4
1g.202596923A>CCA344256105SYT2c.1094T>G (p.Leu365Arg)
c.1103T>G (p.Leu368Arg)
c.1274T>G (p.Leu425Arg)
c.1265T>G (p.Leu422Arg)
1g.202596923A>GCA344256107SYT2c.1094T>C (p.Leu365Pro)
c.1103T>C (p.Leu368Pro)
c.1274T>C (p.Leu425Pro)
c.1265T>C (p.Leu422Pro)
 ClinVar dbSNP
1g.202596923A>TCA344256109SYT2c.1094T>A (p.Leu365Gln)
c.1103T>A (p.Leu368Gln)
c.1274T>A (p.Leu425Gln)
c.1265T>A (p.Leu422Gln)
1g.202596924G>ACA422578191SYT2c.1093C>T (p.Leu365=)
c.1102C>T (p.Leu368=)
c.1273C>T (p.Leu425=)
c.1264C>T (p.Leu422=)
1g.202596924G>CCA344256111SYT2c.1093C>G (p.Leu365Val)
c.1102C>G (p.Leu368Val)
c.1273C>G (p.Leu425Val)
c.1264C>G (p.Leu422Val)
1g.202596924G>TCA344256113SYT2c.1093C>A (p.Leu365Met)
c.1102C>A (p.Leu368Met)
c.1273C>A (p.Leu425Met)
c.1264C>A (p.Leu422Met)
1g.202596925C>ACA344256115SYT2c.1092G>T (p.Lys364Asn)
c.1101G>T (p.Lys367Asn)
c.1272G>T (p.Lys424Asn)
c.1263G>T (p.Lys421Asn)
1g.202596925C=CA2481403154SYT2c.1092G= (p.Lys364=)
c.1101G= (p.Lys367=)
c.1272G= (p.Lys424=)
c.1263G= (p.Lys421=)
1g.202596925C>GCA344256117SYT2c.1092G>C (p.Lys364Asn)
c.1101G>C (p.Lys367Asn)
c.1272G>C (p.Lys424Asn)
c.1263G>C (p.Lys421Asn)
1g.202596925C>TCA422578192SYT2c.1092G>A (p.Lys364=)
c.1101G>A (p.Lys367=)
c.1272G>A (p.Lys424=)
c.1263G>A (p.Lys421=)
 dbSNP gnomAD v4
1g.202596926T>ACA344256119SYT2c.1091A>T (p.Lys364Met)
c.1100A>T (p.Lys367Met)
c.1271A>T (p.Lys424Met)
c.1262A>T (p.Lys421Met)
 dbSNP gnomAD v3 gnomAD v4
1g.202596926T>CCA344256121SYT2c.1091A>G (p.Lys364Arg)
c.1100A>G (p.Lys367Arg)
c.1271A>G (p.Lys424Arg)
c.1262A>G (p.Lys421Arg)
1g.202596926T>GCA344256122SYT2c.1091A>C (p.Lys364Thr)
c.1100A>C (p.Lys367Thr)
c.1271A>C (p.Lys424Thr)
c.1262A>C (p.Lys421Thr)
1g.202596926T=CA2481403155SYT2c.1091A= (p.Lys364=)
c.1100A= (p.Lys367=)
c.1271A= (p.Lys424=)
c.1262A= (p.Lys421=)
1g.202596927T>ACA344256125SYT2c.1090A>T (p.Lys364Ter)
c.1099A>T (p.Lys367Ter)
c.1270A>T (p.Lys424Ter)
c.1261A>T (p.Lys421Ter)
1g.202596927T>CCA344256126SYT2c.1090A>G (p.Lys364Glu)
c.1099A>G (p.Lys367Glu)
c.1270A>G (p.Lys424Glu)
c.1261A>G (p.Lys421Glu)
1g.202596927T>GCA344256128SYT2c.1090A>C (p.Lys364Gln)
c.1099A>C (p.Lys367Gln)
c.1270A>C (p.Lys424Gln)
c.1261A>C (p.Lys421Gln)
1g.202596927_202596933delinsTGTCATACA2481403156SYT2c.1084_1090delinsTATGACA (p.Tyr362=)
c.1093_1099delinsTATGACA (p.Tyr365=)
c.1264_1270delinsTATGACA (p.Tyr422=)
c.1255_1261delinsTATGACA (p.Tyr419=)
1g.202596928G>ACA422578193SYT2c.1089C>T (p.Asp363=)
c.1098C>T (p.Asp366=)
c.1269C>T (p.Asp423=)
c.1260C>T (p.Asp420=)
 gnomAD v4
1g.202596928G>CCA344256130SYT2c.1089C>G (p.Asp363Glu)
c.1098C>G (p.Asp366Glu)
c.1269C>G (p.Asp423Glu)
c.1260C>G (p.Asp420Glu)
1g.202596928G>TCA344256133SYT2c.1089C>A (p.Asp363Glu)
c.1098C>A (p.Asp366Glu)
c.1269C>A (p.Asp423Glu)
c.1260C>A (p.Asp420Glu)
1g.202596931_202596936delCA16043364SYT2c.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
1g.202596929T>ACA344256135SYT2c.1088A>T (p.Asp363Val)
c.1097A>T (p.Asp366Val)
c.1268A>T (p.Asp423Val)
c.1259A>T (p.Asp420Val)
1g.202596929T>CCA344256137SYT2c.1088A>G (p.Asp363Gly)
c.1097A>G (p.Asp366Gly)
c.1268A>G (p.Asp423Gly)
c.1259A>G (p.Asp420Gly)
 dbSNP
1g.202596929T>GCA344256139SYT2c.1088A>C (p.Asp363Ala)
c.1097A>C (p.Asp366Ala)
c.1268A>C (p.Asp423Ala)
c.1259A>C (p.Asp420Ala)
1g.202596929T=CA2481403157SYT2c.1088A= (p.Asp363=)
c.1097A= (p.Asp366=)
c.1268A= (p.Asp423=)
c.1259A= (p.Asp420=)
1g.202596930C>ACA344256141SYT2c.1087G>T (p.Asp363Tyr)
c.1096G>T (p.Asp366Tyr)
c.1267G>T (p.Asp423Tyr)
c.1258G>T (p.Asp420Tyr)
1g.202596930C>GCA344256143SYT2c.1087G>C (p.Asp363His)
c.1096G>C (p.Asp366His)
c.1267G>C (p.Asp423His)
c.1258G>C (p.Asp420His)
1g.202596930C>TCA344256144SYT2c.1087G>A (p.Asp363Asn)
c.1096G>A (p.Asp366Asn)
c.1267G>A (p.Asp423Asn)
c.1258G>A (p.Asp420Asn)
1g.202596931A>CCA344256145SYT2c.1086T>G (p.Tyr362Ter)
c.1095T>G (p.Tyr365Ter)
c.1266T>G (p.Tyr422Ter)
c.1257T>G (p.Tyr419Ter)
1g.202596931A>GCA422578194SYT2c.1086T>C (p.Tyr362=)
c.1095T>C (p.Tyr365=)
c.1266T>C (p.Tyr422=)
c.1257T>C (p.Tyr419=)
1g.202596931A>TCA344256147SYT2c.1086T>A (p.Tyr362Ter)
c.1095T>A (p.Tyr365Ter)
c.1266T>A (p.Tyr422Ter)
c.1257T>A (p.Tyr419Ter)
1g.202596932T>ACA344256148SYT2c.1085A>T (p.Tyr362Phe)
c.1094A>T (p.Tyr365Phe)
c.1265A>T (p.Tyr422Phe)
c.1256A>T (p.Tyr419Phe)
1g.202596932T>CCA344256150SYT2c.1085A>G (p.Tyr362Cys)
c.1094A>G (p.Tyr365Cys)
c.1265A>G (p.Tyr422Cys)
c.1256A>G (p.Tyr419Cys)
1g.202596932T>GCA344256152SYT2c.1085A>C (p.Tyr362Ser)
c.1094A>C (p.Tyr365Ser)
c.1265A>C (p.Tyr422Ser)
c.1256A>C (p.Tyr419Ser)
1g.202596933delCA2573981620SYT2c.1084del (p.Tyr362MetfsTer10)
c.1093del (p.Tyr365MetfsTer10)
c.1264del (p.Tyr422MetfsTer10)
c.1255del (p.Tyr419MetfsTer10)
1g.202596933A>CCA344256154SYT2c.1084T>G (p.Tyr362Asp)
c.1093T>G (p.Tyr365Asp)
c.1264T>G (p.Tyr422Asp)
c.1255T>G (p.Tyr419Asp)
1g.202596933A>GCA344256156SYT2c.1084T>C (p.Tyr362His)
c.1093T>C (p.Tyr365His)
c.1264T>C (p.Tyr422His)
c.1255T>C (p.Tyr419His)
1g.202596933A>TCA344256157SYT2c.1084T>A (p.Tyr362Asn)
c.1093T>A (p.Tyr365Asn)
c.1264T>A (p.Tyr422Asn)
c.1255T>A (p.Tyr419Asn)
1g.202596934G>ACA422578195SYT2c.1083C>T (p.Asp361=)
c.1092C>T (p.Asp364=)
c.1263C>T (p.Asp421=)
c.1254C>T (p.Asp418=)
1g.202596934G>CCA344256158SYT2c.1083C>G (p.Asp361Glu)
c.1092C>G (p.Asp364Glu)
c.1263C>G (p.Asp421Glu)
c.1254C>G (p.Asp418Glu)
1g.202596934G>TCA344256160SYT2c.1083C>A (p.Asp361Glu)
c.1092C>A (p.Asp364Glu)
c.1263C>A (p.Asp421Glu)
c.1254C>A (p.Asp418Glu)
1g.202596935T>ACA344256162SYT2c.1082A>T (p.Asp361Val)
c.1091A>T (p.Asp364Val)
c.1262A>T (p.Asp421Val)
c.1253A>T (p.Asp418Val)
1g.202596935T>CCA344256164SYT2c.1082A>G (p.Asp361Gly)
c.1091A>G (p.Asp364Gly)
c.1262A>G (p.Asp421Gly)
c.1253A>G (p.Asp418Gly)
1g.202596935T>GCA344256165SYT2c.1082A>C (p.Asp361Ala)
c.1091A>C (p.Asp364Ala)
c.1262A>C (p.Asp421Ala)
c.1253A>C (p.Asp418Ala)
1g.202596936C>ACA344256167SYT2c.1081G>T (p.Asp361Tyr)
c.1090G>T (p.Asp364Tyr)
c.1261G>T (p.Asp421Tyr)
c.1252G>T (p.Asp418Tyr)
1g.202596936C=CA2481403158SYT2c.1081G= (p.Asp361=)
c.1090G= (p.Asp364=)
c.1261G= (p.Asp421=)
c.1252G= (p.Asp418=)
1g.202596936C>GCA344256169SYT2c.1081G>C (p.Asp361His)
c.1090G>C (p.Asp364His)
c.1261G>C (p.Asp421His)
c.1252G>C (p.Asp418His)
 ClinVar dbSNP
1g.202596936C>TCA344256170SYT2c.1081G>A (p.Asp361Asn)
c.1090G>A (p.Asp364Asn)
c.1261G>A (p.Asp421Asn)
c.1252G>A (p.Asp418Asn)
 ClinVar
1g.202596937C>ACA422578196SYT2c.1080G>T (p.Leu360=)
c.1089G>T (p.Leu363=)
c.1260G>T (p.Leu420=)
c.1251G>T (p.Leu417=)
1g.202596937C=CA2481403159SYT2c.1080G= (p.Leu360=)
c.1089G= (p.Leu363=)
c.1260G= (p.Leu420=)
c.1251G= (p.Leu417=)
1g.202596937C>GCA422578197SYT2c.1080G>C (p.Leu360=)
c.1089G>C (p.Leu363=)
c.1260G>C (p.Leu420=)
c.1251G>C (p.Leu417=)
1g.202596937C>TCA422578198SYT2c.1080G>A (p.Leu360=)
c.1089G>A (p.Leu363=)
c.1260G>A (p.Leu420=)
c.1251G>A (p.Leu417=)
 dbSNP
1g.202596938A>CCA344256172SYT2c.1079T>G (p.Leu360Arg)
c.1088T>G (p.Leu363Arg)
c.1259T>G (p.Leu420Arg)
c.1250T>G (p.Leu417Arg)
1g.202596938A>GCA344256174SYT2c.1079T>C (p.Leu360Pro)
c.1088T>C (p.Leu363Pro)
c.1259T>C (p.Leu420Pro)
c.1250T>C (p.Leu417Pro)
1g.202596938A>TCA344256175SYT2c.1079T>A (p.Leu360Gln)
c.1088T>A (p.Leu363Gln)
c.1259T>A (p.Leu420Gln)
c.1250T>A (p.Leu417Gln)
1g.202596939G>ACA422578199SYT2c.1078C>T (p.Leu360=)
c.1087C>T (p.Leu363=)
c.1258C>T (p.Leu420=)
c.1249C>T (p.Leu417=)
1g.202596939G>CCA344256176SYT2c.1078C>G (p.Leu360Val)
c.1087C>G (p.Leu363Val)
c.1258C>G (p.Leu420Val)
c.1249C>G (p.Leu417Val)
1g.202596939G>TCA344256177SYT2c.1078C>A (p.Leu360Met)
c.1087C>A (p.Leu363Met)
c.1258C>A (p.Leu420Met)
c.1249C>A (p.Leu417Met)
1g.202596940C>ACA422578200SYT2c.1077G>T (p.Val359=)
c.1086G>T (p.Val362=)
c.1257G>T (p.Val419=)
c.1248G>T (p.Val416=)
1g.202596940C>GCA422578201SYT2c.1077G>C (p.Val359=)
c.1086G>C (p.Val362=)
c.1257G>C (p.Val419=)
c.1248G>C (p.Val416=)
1g.202596940C>TCA422578202SYT2c.1077G>A (p.Val359=)
c.1086G>A (p.Val362=)
c.1257G>A (p.Val419=)
c.1248G>A (p.Val416=)
1g.202596941delCA2508320441SYT2c.1076del (p.Val359GlyfsTer13)
c.1085del (p.Val362GlyfsTer13)
c.1256del (p.Val419GlyfsTer13)
c.1247del (p.Val416GlyfsTer13)
1g.202596941A>CCA344256178SYT2c.1076T>G (p.Val359Gly)
c.1085T>G (p.Val362Gly)
c.1256T>G (p.Val419Gly)
c.1247T>G (p.Val416Gly)
1g.202596941A>GCA344256180SYT2c.1076T>C (p.Val359Ala)
c.1085T>C (p.Val362Ala)
c.1256T>C (p.Val419Ala)
c.1247T>C (p.Val416Ala)
1g.202596941A>TCA344256179SYT2c.1076T>A (p.Val359Glu)
c.1085T>A (p.Val362Glu)
c.1256T>A (p.Val419Glu)
c.1247T>A (p.Val416Glu)
1g.202596942C>ACA344256182SYT2c.1075G>T (p.Val359Leu)
c.1084G>T (p.Val362Leu)
c.1255G>T (p.Val419Leu)
c.1246G>T (p.Val416Leu)
1g.202596942C=CA2481403160SYT2c.1075G= (p.Val359=)
c.1084G= (p.Val362=)
c.1255G= (p.Val419=)
c.1246G= (p.Val416=)
1g.202596942C>GCA344256186SYT2c.1075G>C (p.Val359Leu)
c.1084G>C (p.Val362Leu)
c.1255G>C (p.Val419Leu)
c.1246G>C (p.Val416Leu)
1g.202596942C>TCA344256183SYT2c.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
1g.202596943G>ACA1333607SYT2c.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
1g.202596943G>CCA422578203SYT2c.1074C>G (p.Thr358=)
c.1083C>G (p.Thr361=)
c.1254C>G (p.Thr418=)
c.1245C>G (p.Thr415=)
1g.202596943G=CA2481403161SYT2c.1074C= (p.Thr358=)
c.1083C= (p.Thr361=)
c.1254C= (p.Thr418=)
c.1245C= (p.Thr415=)
1g.202596943G>TCA422578204SYT2c.1074C>A (p.Thr358=)
c.1083C>A (p.Thr361=)
c.1254C>A (p.Thr418=)
c.1245C>A (p.Thr415=)
1g.202596944G>ACA344256189SYT2c.1073C>T (p.Thr358Ile)
c.1082C>T (p.Thr361Ile)
c.1253C>T (p.Thr418Ile)
c.1244C>T (p.Thr415Ile)
 gnomAD v4 COSMIC
1g.202596944G>CCA344256191SYT2c.1073C>G (p.Thr358Ser)
c.1082C>G (p.Thr361Ser)
c.1253C>G (p.Thr418Ser)
c.1244C>G (p.Thr415Ser)
1g.202596944G=CA1149070966SYT2c.1073C= (p.Thr358=)
c.1082C= (p.Thr361=)
c.1253C= (p.Thr418=)
c.1244C= (p.Thr415=)
1g.202596944G>TCA1333608SYT2c.1073C>A (p.Thr358Asn)
c.1082C>A (p.Thr361Asn)
c.1253C>A (p.Thr418Asn)
c.1244C>A (p.Thr415Asn)
 dbSNP ExAC gnomAD v2
1g.202596945T>ACA344256194SYT2c.1072A>T (p.Thr358Ser)
c.1081A>T (p.Thr361Ser)
c.1252A>T (p.Thr418Ser)
c.1243A>T (p.Thr415Ser)
1g.202596945T>CCA344256195SYT2c.1072A>G (p.Thr358Ala)
c.1081A>G (p.Thr361Ala)
c.1252A>G (p.Thr418Ala)
c.1243A>G (p.Thr415Ala)
1g.202596945T>GCA344256197SYT2c.1072A>C (p.Thr358Pro)
c.1081A>C (p.Thr361Pro)
c.1252A>C (p.Thr418Pro)
c.1243A>C (p.Thr415Pro)
1g.202596946G>ACA422578209SYT2c.1071C>T (p.Val357=)
c.1080C>T (p.Val360=)
c.1251C>T (p.Val417=)
c.1242C>T (p.Val414=)
1g.202596946G>CCA422578211SYT2c.1071C>G (p.Val357=)
c.1080C>G (p.Val360=)
c.1251C>G (p.Val417=)
c.1242C>G (p.Val414=)
1g.202596946G>TCA422578212SYT2c.1071C>A (p.Val357=)
c.1080C>A (p.Val360=)
c.1251C>A (p.Val417=)
c.1242C>A (p.Val414=)
1g.202596947A>CCA344256199SYT2c.1070T>G (p.Val357Gly)
c.1079T>G (p.Val360Gly)
c.1250T>G (p.Val417Gly)
c.1241T>G (p.Val414Gly)
1g.202596947A>GCA344256201SYT2c.1070T>C (p.Val357Ala)
c.1079T>C (p.Val360Ala)
c.1250T>C (p.Val417Ala)
c.1241T>C (p.Val414Ala)
1g.202596947A>TCA344256203SYT2c.1070T>A (p.Val357Asp)
c.1079T>A (p.Val360Asp)
c.1250T>A (p.Val417Asp)
c.1241T>A (p.Val414Asp)
1g.202596948C>ACA344256209SYT2c.1069G>T (p.Val357Phe)
c.1078G>T (p.Val360Phe)
c.1249G>T (p.Val417Phe)
c.1240G>T (p.Val414Phe)
 gnomAD v4
1g.202596948C>GCA344256207SYT2c.1069G>C (p.Val357Leu)
c.1078G>C (p.Val360Leu)
c.1249G>C (p.Val417Leu)
c.1240G>C (p.Val414Leu)
1g.202596948C>TCA344256205SYT2c.1069G>A (p.Val357Ile)
c.1078G>A (p.Val360Ile)
c.1249G>A (p.Val417Ile)
c.1240G>A (p.Val414Ile)
1g.202596949C>ACA422578219SYT2c.1068G>T (p.Val356=)
c.1077G>T (p.Val359=)
c.1248G>T (p.Val416=)
c.1239G>T (p.Val413=)
1g.202596949C>GCA422578220SYT2c.1068G>C (p.Val356=)
c.1077G>C (p.Val359=)
c.1248G>C (p.Val416=)
c.1239G>C (p.Val413=)
 gnomAD v4
1g.202596949C>TCA422578223SYT2c.1068G>A (p.Val356=)
c.1077G>A (p.Val359=)
c.1248G>A (p.Val416=)
c.1239G>A (p.Val413=)
 COSMIC
1g.202596950A=CA2481403162SYT2c.1067T= (p.Val356=)
c.1076T= (p.Val359=)
c.1247T= (p.Val416=)
c.1238T= (p.Val413=)
1g.202596950A>CCA344256210SYT2c.1067T>G (p.Val356Gly)
c.1076T>G (p.Val359Gly)
c.1247T>G (p.Val416Gly)
c.1238T>G (p.Val413Gly)
1g.202596950A>GCA344256211SYT2c.1067T>C (p.Val356Ala)
c.1076T>C (p.Val359Ala)
c.1247T>C (p.Val416Ala)
c.1238T>C (p.Val413Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.202596950A>TCA344256213SYT2c.1067T>A (p.Val356Glu)
c.1076T>A (p.Val359Glu)
c.1247T>A (p.Val416Glu)
c.1238T>A (p.Val413Glu)
1g.202596951C>ACA344256215SYT2c.1066G>T (p.Val356Leu)
c.1075G>T (p.Val359Leu)
c.1246G>T (p.Val416Leu)
c.1237G>T (p.Val413Leu)
1g.202596951C>GCA344256217SYT2c.1066G>C (p.Val356Leu)
c.1075G>C (p.Val359Leu)
c.1246G>C (p.Val416Leu)
c.1237G>C (p.Val413Leu)
 gnomAD v4
1g.202596951C>TCA344256218SYT2c.1066G>A (p.Val356Met)
c.1075G>A (p.Val359Met)
c.1246G>A (p.Val416Met)
c.1237G>A (p.Val413Met)
1g.202596952T>ACA422578230SYT2c.1065A>T (p.Val355=)
c.1074A>T (p.Val358=)
c.1245A>T (p.Val415=)
c.1236A>T (p.Val412=)
1g.202596952T>CCA422578231SYT2c.1065A>G (p.Val355=)
c.1074A>G (p.Val358=)
c.1245A>G (p.Val415=)
c.1236A>G (p.Val412=)
 gnomAD v4
1g.202596952T>GCA422578232SYT2c.1065A>C (p.Val355=)
c.1074A>C (p.Val358=)
c.1245A>C (p.Val415=)
c.1236A>C (p.Val412=)
1g.202596953A>CCA344256220SYT2c.1064T>G (p.Val355Gly)
c.1073T>G (p.Val358Gly)
c.1244T>G (p.Val415Gly)
c.1235T>G (p.Val412Gly)
1g.202596953A>GCA344256222SYT2c.1064T>C (p.Val355Ala)
c.1073T>C (p.Val358Ala)
c.1244T>C (p.Val415Ala)
c.1235T>C (p.Val412Ala)
1g.202596953A>TCA344256224SYT2c.1064T>A (p.Val355Glu)
c.1073T>A (p.Val358Glu)
c.1244T>A (p.Val415Glu)
c.1235T>A (p.Val412Glu)
1g.202596954C>ACA344256226SYT2c.1063G>T (p.Val355Leu)
c.1072G>T (p.Val358Leu)
c.1243G>T (p.Val415Leu)
c.1234G>T (p.Val412Leu)
1g.202596954C=CA2481403163SYT2c.1063G= (p.Val355=)
c.1072G= (p.Val358=)
c.1243G= (p.Val415=)
c.1234G= (p.Val412=)
1g.202596954C>GCA344256227SYT2c.1063G>C (p.Val355Leu)
c.1072G>C (p.Val358Leu)
c.1243G>C (p.Val415Leu)
c.1234G>C (p.Val412Leu)
1g.202596954C>TCA344256228SYT2c.1063G>A (p.Val355Ile)
c.1072G>A (p.Val358Ile)
c.1243G>A (p.Val415Ile)
c.1234G>A (p.Val412Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.202596955C>ACA344256230SYT2c.1062G>T (p.Gln354His)
c.1071G>T (p.Gln357His)
c.1242G>T (p.Gln414His)
c.1233G>T (p.Gln411His)
1g.202596955C>GCA344256232SYT2c.1062G>C (p.Gln354His)
c.1071G>C (p.Gln357His)
c.1242G>C (p.Gln414His)
c.1233G>C (p.Gln411His)
1g.202596955C>TCA422578239SYT2c.1062G>A (p.Gln354=)
c.1071G>A (p.Gln357=)
c.1242G>A (p.Gln414=)
c.1233G>A (p.Gln411=)
1g.202596956T>ACA344256234SYT2c.1061A>T (p.Gln354Leu)
c.1070A>T (p.Gln357Leu)
c.1241A>T (p.Gln414Leu)
c.1232A>T (p.Gln411Leu)
1g.202596956T>CCA344256236SYT2c.1061A>G (p.Gln354Arg)
c.1070A>G (p.Gln357Arg)
c.1241A>G (p.Gln414Arg)
c.1232A>G (p.Gln411Arg)
1g.202596956T>GCA344256238SYT2c.1061A>C (p.Gln354Pro)
c.1070A>C (p.Gln357Pro)
c.1241A>C (p.Gln414Pro)
c.1232A>C (p.Gln411Pro)
1g.202596957G>ACA344256240SYT2c.1060C>T (p.Gln354Ter)
c.1069C>T (p.Gln357Ter)
c.1240C>T (p.Gln414Ter)
c.1231C>T (p.Gln411Ter)
 ClinVar dbSNP
1g.202596957G>CCA344256242SYT2c.1060C>G (p.Gln354Glu)
c.1069C>G (p.Gln357Glu)
c.1240C>G (p.Gln414Glu)
c.1231C>G (p.Gln411Glu)
1g.202596957G>TCA344256244SYT2c.1060C>A (p.Gln354Lys)
c.1069C>A (p.Gln357Lys)
c.1240C>A (p.Gln414Lys)
c.1231C>A (p.Gln411Lys)
1g.202596958G>ACA422578246SYT2c.1059C>T (p.Val353=)
c.1068C>T (p.Val356=)
c.1239C>T (p.Val413=)
c.1230C>T (p.Val410=)
1g.202596958G>CCA422578248SYT2c.1059C>G (p.Val353=)
c.1068C>G (p.Val356=)
c.1239C>G (p.Val413=)
c.1230C>G (p.Val410=)
1g.202596958G=CA2481403164SYT2c.1059C= (p.Val353=)
c.1068C= (p.Val356=)
c.1239C= (p.Val413=)
c.1230C= (p.Val410=)
1g.202596958G>TCA1333609SYT2c.1059C>A (p.Val353=)
c.1068C>A (p.Val356=)
c.1239C>A (p.Val413=)
c.1230C>A (p.Val410=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596959A>CCA344256246SYT2c.1058T>G (p.Val353Gly)
c.1067T>G (p.Val356Gly)
c.1238T>G (p.Val413Gly)
c.1229T>G (p.Val410Gly)
1g.202596959A>GCA344256247SYT2c.1058T>C (p.Val353Ala)
c.1067T>C (p.Val356Ala)
c.1238T>C (p.Val413Ala)
c.1229T>C (p.Val410Ala)
1g.202596959A>TCA344256248SYT2c.1058T>A (p.Val353Asp)
c.1067T>A (p.Val356Asp)
c.1238T>A (p.Val413Asp)
c.1229T>A (p.Val410Asp)
 gnomAD v4
1g.202596960C>ACA344256250SYT2c.1057G>T (p.Val353Phe)
c.1066G>T (p.Val356Phe)
c.1237G>T (p.Val413Phe)
c.1228G>T (p.Val410Phe)
1g.202596960C=CA2481403165SYT2c.1057G= (p.Val353=)
c.1066G= (p.Val356=)
c.1237G= (p.Val413=)
c.1228G= (p.Val410=)
1g.202596960C>GCA35575289SYT2c.1057G>C (p.Val353Leu)
c.1066G>C (p.Val356Leu)
c.1237G>C (p.Val413Leu)
c.1228G>C (p.Val410Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.202596960C>TCA344256253SYT2c.1057G>A (p.Val353Ile)
c.1066G>A (p.Val356Ile)
c.1237G>A (p.Val413Ile)
c.1228G>A (p.Val410Ile)
 gnomAD v4
1g.202596961T>ACA344256255SYT2c.1056A>T (p.Lys352Asn)
c.1065A>T (p.Lys355Asn)
c.1236A>T (p.Lys412Asn)
c.1227A>T (p.Lys409Asn)
1g.202596961T>CCA422578257SYT2c.1056A>G (p.Lys352=)
c.1065A>G (p.Lys355=)
c.1236A>G (p.Lys412=)
c.1227A>G (p.Lys409=)
1g.202596961T>GCA344256257SYT2c.1056A>C (p.Lys352Asn)
c.1065A>C (p.Lys355Asn)
c.1236A>C (p.Lys412Asn)
c.1227A>C (p.Lys409Asn)
1g.202596962T>ACA344256259SYT2c.1055A>T (p.Lys352Ile)
c.1064A>T (p.Lys355Ile)
c.1235A>T (p.Lys412Ile)
c.1226A>T (p.Lys409Ile)
1g.202596962T>CCA344256261SYT2c.1055A>G (p.Lys352Arg)
c.1064A>G (p.Lys355Arg)
c.1235A>G (p.Lys412Arg)
c.1226A>G (p.Lys409Arg)
1g.202596962T>GCA344256263SYT2c.1055A>C (p.Lys352Thr)
c.1064A>C (p.Lys355Thr)
c.1235A>C (p.Lys412Thr)
c.1226A>C (p.Lys409Thr)
1g.202596963T>ACA344256265SYT2c.1054A>T (p.Lys352Ter)
c.1063A>T (p.Lys355Ter)
c.1234A>T (p.Lys412Ter)
c.1225A>T (p.Lys409Ter)
1g.202596963T>CCA1333610SYT2c.1054A>G (p.Lys352Glu)
c.1063A>G (p.Lys355Glu)
c.1234A>G (p.Lys412Glu)
c.1225A>G (p.Lys409Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596963T>GCA1333611SYT2c.1054A>C (p.Lys352Gln)
c.1063A>C (p.Lys355Gln)
c.1234A>C (p.Lys412Gln)
c.1225A>C (p.Lys409Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596963T=CA2481403166SYT2c.1054A= (p.Lys352=)
c.1063A= (p.Lys355=)
c.1234A= (p.Lys412=)
c.1225A= (p.Lys409=)
1g.202596964C>ACA344256269SYT2c.1054-1G>T (n.1054-1G>T)
c.1063-1G>T (n.1063-1G>T)
c.1234-1G>T (n.1234-1G>T)
c.1225-1G>T (n.1225-1G>T)
1g.202596964C=CA2481403167SYT2c.1054-1G= (n.1054-1G=)
c.1063-1G= (n.1063-1G=)
c.1234-1G= (n.1234-1G=)
c.1225-1G= (n.1225-1G=)
1g.202596964C>GCA1333612SYT2c.1054-1G>C (n.1054-1G>C)
c.1063-1G>C (n.1063-1G>C)
c.1234-1G>C (n.1234-1G>C)
c.1225-1G>C (n.1225-1G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596964C>TCA344256272SYT2c.1054-1G>A (n.1054-1G>A)
c.1063-1G>A (n.1063-1G>A)
c.1234-1G>A (n.1234-1G>A)
c.1225-1G>A (n.1225-1G>A)
1g.202596965T>ACA344256274SYT2c.1054-2A>T (n.1054-2A>T)
c.1063-2A>T (n.1063-2A>T)
c.1234-2A>T (n.1234-2A>T)
c.1225-2A>T (n.1225-2A>T)
1g.202596965T>CCA344256276SYT2c.1054-2A>G (n.1054-2A>G)
c.1063-2A>G (n.1063-2A>G)
c.1234-2A>G (n.1234-2A>G)
c.1225-2A>G (n.1225-2A>G)
 gnomAD v4
1g.202596965T>GCA344256278SYT2c.1054-2A>C (n.1054-2A>C)
c.1063-2A>C (n.1063-2A>C)
c.1234-2A>C (n.1234-2A>C)
c.1225-2A>C (n.1225-2A>C)
1g.202596966G>ACA2481403169SYT2c.1054-3C>T (n.1054-3C>T)
c.1063-3C>T (n.1063-3C>T)
c.1234-3C>T (n.1234-3C>T)
c.1225-3C>T (n.1225-3C>T)
 ClinVar dbSNP gnomAD v4
1g.202596966G=CA2481403168SYT2c.1054-3C= (n.1054-3C=)
c.1063-3C= (n.1063-3C=)
c.1234-3C= (n.1234-3C=)
c.1225-3C= (n.1225-3C=)
1g.202596966G>TCA645521748SYT2c.1054-3C>A (n.1054-3C>A)
c.1063-3C>A (n.1063-3C>A)
c.1234-3C>A (n.1234-3C>A)
c.1225-3C>A (n.1225-3C>A)
 COSMIC
1g.202596967C>ACA2481403172SYT2c.1054-4G>T (n.1054-4G>T)
c.1063-4G>T (n.1063-4G>T)
c.1234-4G>T (n.1234-4G>T)
c.1225-4G>T (n.1225-4G>T)
 dbSNP gnomAD v4
1g.202596967C=CA2481403171SYT2c.1054-4G= (n.1054-4G=)
c.1063-4G= (n.1063-4G=)
c.1234-4G= (n.1234-4G=)
c.1225-4G= (n.1225-4G=)
1g.202596967C>GCA2649903301SYT2c.1054-4G>C (n.1054-4G>C)
c.1063-4G>C (n.1063-4G>C)
c.1234-4G>C (n.1234-4G>C)
c.1225-4G>C (n.1225-4G>C)
 gnomAD v4
1g.202596967_202596968delinsCACA2481403170SYT2c.1054-5_1054-4delinsTG (n.1054-5_1054-4delinsTG)
c.1063-5_1063-4delinsTG (n.1063-5_1063-4delinsTG)
c.1234-5_1234-4delinsTG (n.1234-5_1234-4delinsTG)
c.1225-5_1225-4delinsTG (n.1225-5_1225-4delinsTG)
1g.202596968A=CA2481403173SYT2c.1054-5T= (n.1054-5T=)
c.1063-5T= (n.1063-5T=)
c.1234-5T= (n.1234-5T=)
c.1225-5T= (n.1225-5T=)
1g.202596968A>GCA1333614SYT2c.1054-5T>C (n.1054-5T>C)
c.1063-5T>C (n.1063-5T>C)
c.1234-5T>C (n.1234-5T>C)
c.1225-5T>C (n.1225-5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596969delCA1333613SYT2c.1054-5del (n.1054-5del)
c.1063-5del (n.1063-5del)
c.1234-5del (n.1234-5del)
c.1225-5del (n.1225-5del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596971G>ACA730216597SYT2c.1054-8C>T (n.1054-8C>T)
c.1063-8C>T (n.1063-8C>T)
c.1234-8C>T (n.1234-8C>T)
c.1225-8C>T (n.1225-8C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.202596971G=CA2481403174SYT2c.1054-8C= (n.1054-8C=)
c.1063-8C= (n.1063-8C=)
c.1234-8C= (n.1234-8C=)
c.1225-8C= (n.1225-8C=)
1g.202596975delCA2649903302SYT2c.1054-9del (n.1054-9del)
c.1063-9del (n.1063-9del)
c.1234-9del (n.1234-9del)
c.1225-9del (n.1225-9del)
 gnomAD v4
1g.202596976C=CA2481403175SYT2c.1054-13G= (n.1054-13G=)
c.1063-13G= (n.1063-13G=)
c.1234-13G= (n.1234-13G=)
c.1225-13G= (n.1225-13G=)
1g.202596976C>TCA35575316SYT2c.1054-13G>A (n.1054-13G>A)
c.1063-13G>A (n.1063-13G>A)
c.1234-13G>A (n.1234-13G>A)
c.1225-13G>A (n.1225-13G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.202596977G>ACA1333615SYT2c.1054-14C>T (n.1054-14C>T)
c.1063-14C>T (n.1063-14C>T)
n.1G>A
c.1234-14C>T (n.1234-14C>T)
c.1225-14C>T (n.1225-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.202596977G=CA2481403177SYT2c.1054-14C= (n.1054-14C=)
c.1063-14C= (n.1063-14C=)
n.1G=
c.1234-14C= (n.1234-14C=)
c.1225-14C= (n.1225-14C=)
1g.202596977G>TCA2481403176SYT2c.1054-14C>A (n.1054-14C>A)
c.1063-14C>A (n.1063-14C>A)
n.1G>T
c.1234-14C>A (n.1234-14C>A)
c.1225-14C>A (n.1225-14C>A)
 dbSNP gnomAD v4
1g.202596978_202596980delCA2649903303SYT2c.1054-16_1054-14del (n.1054-16_1054-14del)
c.1063-16_1063-14del (n.1063-16_1063-14del)
n.2_4del
c.1234-16_1234-14del (n.1234-16_1234-14del)
c.1225-16_1225-14del (n.1225-16_1225-14del)
 gnomAD v4
1g.202596978A=CA2481403178SYT2c.1054-15T= (n.1054-15T=)
c.1063-15T= (n.1063-15T=)
n.2A=
c.1234-15T= (n.1234-15T=)
c.1225-15T= (n.1225-15T=)
1g.202596978A>CCA1333616SYT2c.1054-15T>G (n.1054-15T>G)
c.1063-15T>G (n.1063-15T>G)
n.2A>C
c.1234-15T>G (n.1234-15T>G)
c.1225-15T>G (n.1225-15T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596979G>ACA730216603SYT2c.1054-16C>T (n.1054-16C>T)
c.1063-16C>T (n.1063-16C>T)
n.3G>A
c.1234-16C>T (n.1234-16C>T)
c.1225-16C>T (n.1225-16C>T)
 dbSNP
1g.202596979G=CA2481403179SYT2c.1054-16C= (n.1054-16C=)
c.1063-16C= (n.1063-16C=)
n.3G=
c.1234-16C= (n.1234-16C=)
c.1225-16C= (n.1225-16C=)
1g.202596979G>TCA2481403180SYT2c.1054-16C>A (n.1054-16C>A)
c.1063-16C>A (n.1063-16C>A)
n.3G>T
c.1234-16C>A (n.1234-16C>A)
c.1225-16C>A (n.1225-16C>A)
 dbSNP
1g.202596981G>ACA528129192SYT2c.1054-18C>T (n.1054-18C>T)
c.1063-18C>T (n.1063-18C>T)
n.5G>A
c.1234-18C>T (n.1234-18C>T)
c.1225-18C>T (n.1225-18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.202596981G=CA2481403181SYT2c.1054-18C= (n.1054-18C=)
c.1063-18C= (n.1063-18C=)
n.5G=
c.1234-18C= (n.1234-18C=)
c.1225-18C= (n.1225-18C=)
1g.202596983G>ACA1333617SYT2c.1054-20C>T (n.1054-20C>T)
c.1063-20C>T (n.1063-20C>T)
n.7G>A
c.1234-20C>T (n.1234-20C>T)
c.1225-20C>T (n.1225-20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596983G=CA2481403182SYT2c.1054-20C= (n.1054-20C=)
c.1063-20C= (n.1063-20C=)
n.7G=
c.1234-20C= (n.1234-20C=)
c.1225-20C= (n.1225-20C=)
1g.202596985delCA2573981701SYT2c.1054-20del (n.1054-20del)
c.1063-20del (n.1063-20del)
n.9del
c.1234-20del (n.1234-20del)
c.1225-20del (n.1225-20del)
 ClinVar
1g.202596984G>ACA2649903304SYT2c.1054-21C>T (n.1054-21C>T)
c.1063-21C>T (n.1063-21C>T)
n.8G>A
c.1234-21C>T (n.1234-21C>T)
c.1225-21C>T (n.1225-21C>T)
 gnomAD v4
1g.202596985G>ACA1333618SYT2c.1054-22C>T (n.1054-22C>T)
c.1063-22C>T (n.1063-22C>T)
n.9G>A
c.1234-22C>T (n.1234-22C>T)
c.1225-22C>T (n.1225-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596985G>CCA730216617SYT2c.1054-22C>G (n.1054-22C>G)
c.1063-22C>G (n.1063-22C>G)
n.9G>C
c.1234-22C>G (n.1234-22C>G)
c.1225-22C>G (n.1225-22C>G)
 dbSNP
1g.202596985G=CA2481403183SYT2c.1054-22C= (n.1054-22C=)
c.1063-22C= (n.1063-22C=)
n.9G=
c.1234-22C= (n.1234-22C=)
c.1225-22C= (n.1225-22C=)
1g.202596987G>ACA2649903305SYT2c.1054-24C>T (n.1054-24C>T)
c.1063-24C>T (n.1063-24C>T)
n.11G>A
c.1234-24C>T (n.1234-24C>T)
c.1225-24C>T (n.1225-24C>T)
 gnomAD v4
1g.202596987G>CCA2573981724SYT2c.1054-24C>G (n.1054-24C>G)
c.1063-24C>G (n.1063-24C>G)
n.11G>C
c.1234-24C>G (n.1234-24C>G)
c.1225-24C>G (n.1225-24C>G)
1g.202596989T>ACA1333619SYT2c.1054-26A>T (n.1054-26A>T)
c.1063-26A>T (n.1063-26A>T)
n.13T>A
c.1234-26A>T (n.1234-26A>T)
c.1225-26A>T (n.1225-26A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596989T=CA1143700471SYT2c.1054-26A= (n.1054-26A=)
c.1063-26A= (n.1063-26A=)
n.13T=
c.1234-26A= (n.1234-26A=)
c.1225-26A= (n.1225-26A=)
1g.202596990G>ACA2481403185SYT2c.1054-27C>T (n.1054-27C>T)
c.1063-27C>T (n.1063-27C>T)
n.14G>A
c.1234-27C>T (n.1234-27C>T)
c.1225-27C>T (n.1225-27C>T)
 dbSNP gnomAD v4
1g.202596990G=CA2481403184SYT2c.1054-27C= (n.1054-27C=)
c.1063-27C= (n.1063-27C=)
n.14G=
c.1234-27C= (n.1234-27C=)
c.1225-27C= (n.1225-27C=)
1g.202596991G>ACA2649903306SYT2c.1054-28C>T (n.1054-28C>T)
c.1063-28C>T (n.1063-28C>T)
n.15G>A
c.1234-28C>T (n.1234-28C>T)
c.1225-28C>T (n.1225-28C>T)
 gnomAD v4
1g.202596991G>TCA2649903307SYT2c.1054-28C>A (n.1054-28C>A)
c.1063-28C>A (n.1063-28C>A)
n.15G>T
c.1234-28C>A (n.1234-28C>A)
c.1225-28C>A (n.1225-28C>A)
 gnomAD v4

Number of alleles fetched