Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.202596732_202596739delinsGGTGTGGGCA1149039598SYT2c.*18_*25delinsCCCACACC (n.*18_*25delinsCCCACACC)
1g.202596734_202596739delCA1333574SYT2c.*20_*25del (n.*20_*25del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596739G>CCA2649903205SYT2c.*18C>G (n.*18C>G)
 gnomAD v4
1g.202596740G>ACA1333576SYT2c.*17C>T (n.*17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596740G=CA1143445722SYT2c.*17C= (n.*17C=)
1g.202596740G>TCA2573981456SYT2c.*17C>A (n.*17C>A)
 gnomAD v4
1g.202596742C>GCA2698124614SYT2c.*15G>C (n.*15G>C)
 dbSNP
1g.202596742C>TCA2649903208SYT2c.*15G>A (n.*15G>A)
 gnomAD v4
1g.202596744C=CA2481403098SYT2c.*13G= (n.*13G=)
1g.202596744C>TCA35574907SYT2c.*13G>A (n.*13G>A)
 dbSNP
1g.202596745A=CA1143469210SYT2c.*12T= (n.*12T=)
1g.202596745A>GCA1333577SYT2c.*12T>C (n.*12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596746G>ACA2649903209SYT2c.*11C>T (n.*11C>T)
 gnomAD v4
1g.202596747C=CA2481403099SYT2c.*10G= (n.*10G=)
1g.202596747C>GCA1333578SYT2c.*10G>C (n.*10G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596748C>ACA2573981461SYT2c.*9G>T (n.*9G>T)
 gnomAD v4
1g.202596748C=CA1142828030SYT2c.*9G= (n.*9G=)
1g.202596748C>TCA1333579SYT2c.*9G>A (n.*9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.202596749G>ACA1333580SYT2c.*8C>T (n.*8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596749G=CA1144152090SYT2c.*8C= (n.*8C=)
1g.202596749G>TCA1333581SYT2c.*8C>A (n.*8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596751T>GCA2573981495SYT2c.*6A>C (n.*6A>C)
1g.202596752G>ACA1011275216SYT2c.*5C>T (n.*5C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.202596752G=CA2481403100SYT2c.*5C= (n.*5C=)
1g.202596752G>TCA1011275219SYT2c.*5C>A (n.*5C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.202596754T>CCA35574967SYT2c.*3A>G (n.*3A>G)
 dbSNP gnomAD v4
1g.202596754T=CA2481403101SYT2c.*3A= (n.*3A=)
1g.202596755G>ACA2481403103SYT2c.*2C>T (n.*2C>T)
 dbSNP gnomAD v4
1g.202596755G=CA2481403102SYT2c.*2C= (n.*2C=)
1g.202596757C>ACA344255555SYT2c.1260G>T (p.Ter420Tyr)
c.1269G>T (p.Ter423Tyr)
c.1440G>T (p.Ter480Tyr)
c.1431G>T (p.Ter477Tyr)
1g.202596757C>GCA344255556SYT2c.1260G>C (p.Ter420Tyr)
c.1269G>C (p.Ter423Tyr)
c.1440G>C (p.Ter480Tyr)
c.1431G>C (p.Ter477Tyr)
1g.202596757C>TCA422578063SYT2c.1260G>A (p.Ter420=)
c.1269G>A (p.Ter423=)
c.1440G>A (p.Ter480=)
c.1431G>A (p.Ter477=)
1g.202596758T>ACA344255557SYT2c.1259A>T (p.Ter420Leu)
c.1268A>T (p.Ter423Leu)
c.1439A>T (p.Ter480Leu)
c.1430A>T (p.Ter477Leu)
1g.202596758T>CCA344255559SYT2c.1259A>G (p.Ter420Trp)
c.1268A>G (p.Ter423Trp)
c.1439A>G (p.Ter480Trp)
c.1430A>G (p.Ter477Trp)
1g.202596758T>GCA344255561SYT2c.1259A>C (p.Ter420Ser)
c.1268A>C (p.Ter423Ser)
c.1439A>C (p.Ter480Ser)
c.1430A>C (p.Ter477Ser)
1g.202596759A=CA2481403104SYT2c.1258T= (p.Ter420=)
c.1267T= (p.Ter423=)
c.1438T= (p.Ter480=)
c.1429T= (p.Ter477=)
1g.202596759A>CCA344255566SYT2c.1258T>G (p.Ter420Glu)
c.1267T>G (p.Ter423Glu)
c.1438T>G (p.Ter480Glu)
c.1429T>G (p.Ter477Glu)
 dbSNP gnomAD v4
1g.202596759A>GCA344255565SYT2c.1258T>C (p.Ter420Gln)
c.1267T>C (p.Ter423Gln)
c.1438T>C (p.Ter480Gln)
c.1429T>C (p.Ter477Gln)
 gnomAD v4
1g.202596759A>TCA344255563SYT2c.1258T>A (p.Ter420Lys)
c.1267T>A (p.Ter423Lys)
c.1438T>A (p.Ter480Lys)
c.1429T>A (p.Ter477Lys)
 gnomAD v4
1g.202596760C>ACA344255568SYT2c.1257G>T (p.Lys419Asn)
c.1266G>T (p.Lys422Asn)
c.1437G>T (p.Lys479Asn)
c.1428G>T (p.Lys476Asn)
1g.202596760C=CA2481403105SYT2c.1257G= (p.Lys419=)
c.1266G= (p.Lys422=)
c.1437G= (p.Lys479=)
c.1428G= (p.Lys476=)
1g.202596760C>GCA344255570SYT2c.1257G>C (p.Lys419Asn)
c.1266G>C (p.Lys422Asn)
c.1437G>C (p.Lys479Asn)
c.1428G>C (p.Lys476Asn)
1g.202596760C>TCA422578064SYT2c.1257G>A (p.Lys419=)
c.1266G>A (p.Lys422=)
c.1437G>A (p.Lys479=)
c.1428G>A (p.Lys476=)
 dbSNP gnomAD v3 gnomAD v4
1g.202596761T>ACA344255572SYT2c.1256A>T (p.Lys419Met)
c.1265A>T (p.Lys422Met)
c.1436A>T (p.Lys479Met)
c.1427A>T (p.Lys476Met)
1g.202596761T>CCA344255574SYT2c.1256A>G (p.Lys419Arg)
c.1265A>G (p.Lys422Arg)
c.1436A>G (p.Lys479Arg)
c.1427A>G (p.Lys476Arg)
1g.202596761T>GCA344255576SYT2c.1256A>C (p.Lys419Thr)
c.1265A>C (p.Lys422Thr)
c.1436A>C (p.Lys479Thr)
c.1427A>C (p.Lys476Thr)
1g.202596762T>ACA344255577SYT2c.1255A>T (p.Lys419Ter)
c.1264A>T (p.Lys422Ter)
c.1435A>T (p.Lys479Ter)
c.1426A>T (p.Lys476Ter)
1g.202596762T>CCA344255579SYT2c.1255A>G (p.Lys419Glu)
c.1264A>G (p.Lys422Glu)
c.1435A>G (p.Lys479Glu)
c.1426A>G (p.Lys476Glu)
1g.202596762T>GCA344255581SYT2c.1255A>C (p.Lys419Gln)
c.1264A>C (p.Lys422Gln)
c.1435A>C (p.Lys479Gln)
c.1426A>C (p.Lys476Gln)
1g.202596763G>ACA1333582SYT2c.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
1g.202596763G>CCA1333583SYT2c.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
1g.202596763G=CA1143398260SYT2c.1254C= (p.Asn418=)
c.1263C= (p.Asn421=)
c.1434C= (p.Asn478=)
c.1425C= (p.Asn475=)
1g.202596763G>TCA344255584SYT2c.1254C>A (p.Asn418Lys)
c.1263C>A (p.Asn421Lys)
c.1434C>A (p.Asn478Lys)
c.1425C>A (p.Asn475Lys)
1g.202596764T>ACA344255585SYT2c.1253A>T (p.Asn418Ile)
c.1262A>T (p.Asn421Ile)
c.1433A>T (p.Asn478Ile)
c.1424A>T (p.Asn475Ile)
1g.202596764T>CCA344255587SYT2c.1253A>G (p.Asn418Ser)
c.1262A>G (p.Asn421Ser)
c.1433A>G (p.Asn478Ser)
c.1424A>G (p.Asn475Ser)
1g.202596764T>GCA344255588SYT2c.1253A>C (p.Asn418Thr)
c.1262A>C (p.Asn421Thr)
c.1433A>C (p.Asn478Thr)
c.1424A>C (p.Asn475Thr)
1g.202596765T>ACA344255593SYT2c.1252A>T (p.Asn418Tyr)
c.1261A>T (p.Asn421Tyr)
c.1432A>T (p.Asn478Tyr)
c.1423A>T (p.Asn475Tyr)
1g.202596765T>CCA344255594SYT2c.1252A>G (p.Asn418Asp)
c.1261A>G (p.Asn421Asp)
c.1432A>G (p.Asn478Asp)
c.1423A>G (p.Asn475Asp)
1g.202596765T>GCA344255591SYT2c.1252A>C (p.Asn418His)
c.1261A>C (p.Asn421His)
c.1432A>C (p.Asn478His)
c.1423A>C (p.Asn475His)
1g.202596766C>ACA344255596SYT2c.1251G>T (p.Lys417Asn)
c.1260G>T (p.Lys420Asn)
c.1431G>T (p.Lys477Asn)
c.1422G>T (p.Lys474Asn)
1g.202596766C=CA2481403106SYT2c.1251G= (p.Lys417=)
c.1260G= (p.Lys420=)
c.1431G= (p.Lys477=)
c.1422G= (p.Lys474=)
1g.202596766C>GCA344255598SYT2c.1251G>C (p.Lys417Asn)
c.1260G>C (p.Lys420Asn)
c.1431G>C (p.Lys477Asn)
c.1422G>C (p.Lys474Asn)
 COSMIC
1g.202596766C>TCA422578067SYT2c.1251G>A (p.Lys417=)
c.1260G>A (p.Lys420=)
c.1431G>A (p.Lys477=)
c.1422G>A (p.Lys474=)
 dbSNP gnomAD v3 gnomAD v4
1g.202596767T>ACA344255599SYT2c.1250A>T (p.Lys417Met)
c.1259A>T (p.Lys420Met)
c.1430A>T (p.Lys477Met)
c.1421A>T (p.Lys474Met)
1g.202596767T>CCA344255601SYT2c.1250A>G (p.Lys417Arg)
c.1259A>G (p.Lys420Arg)
c.1430A>G (p.Lys477Arg)
c.1421A>G (p.Lys474Arg)
1g.202596767T>GCA344255603SYT2c.1250A>C (p.Lys417Thr)
c.1259A>C (p.Lys420Thr)
c.1430A>C (p.Lys477Thr)
c.1421A>C (p.Lys474Thr)
1g.202596768T>ACA344255605SYT2c.1249A>T (p.Lys417Ter)
c.1258A>T (p.Lys420Ter)
c.1429A>T (p.Lys477Ter)
c.1420A>T (p.Lys474Ter)
1g.202596768T>CCA344255607SYT2c.1249A>G (p.Lys417Glu)
c.1258A>G (p.Lys420Glu)
c.1429A>G (p.Lys477Glu)
c.1420A>G (p.Lys474Glu)
1g.202596768T>GCA344255609SYT2c.1249A>C (p.Lys417Gln)
c.1258A>C (p.Lys420Gln)
c.1429A>C (p.Lys477Gln)
c.1420A>C (p.Lys474Gln)
1g.202596769G>ACA422578068SYT2c.1248C>T (p.Gly416=)
c.1257C>T (p.Gly419=)
c.1428C>T (p.Gly476=)
c.1419C>T (p.Gly473=)
 dbSNP gnomAD v2 gnomAD v4
1g.202596769G>CCA422578069SYT2c.1248C>G (p.Gly416=)
c.1257C>G (p.Gly419=)
c.1428C>G (p.Gly476=)
c.1419C>G (p.Gly473=)
 gnomAD v4
1g.202596769G=CA2481403107SYT2c.1248C= (p.Gly416=)
c.1257C= (p.Gly419=)
c.1428C= (p.Gly476=)
c.1419C= (p.Gly473=)
1g.202596769G>TCA422578070SYT2c.1248C>A (p.Gly416=)
c.1257C>A (p.Gly419=)
c.1428C>A (p.Gly476=)
c.1419C>A (p.Gly473=)
1g.202596770C>ACA344255610SYT2c.1247G>T (p.Gly416Val)
c.1256G>T (p.Gly419Val)
c.1427G>T (p.Gly476Val)
c.1418G>T (p.Gly473Val)
1g.202596770C>GCA344255612SYT2c.1247G>C (p.Gly416Ala)
c.1256G>C (p.Gly419Ala)
c.1427G>C (p.Gly476Ala)
c.1418G>C (p.Gly473Ala)
 gnomAD v4
1g.202596770C>TCA344255614SYT2c.1247G>A (p.Gly416Asp)
c.1256G>A (p.Gly419Asp)
c.1427G>A (p.Gly476Asp)
c.1418G>A (p.Gly473Asp)
1g.202596771C>ACA344255619SYT2c.1246G>T (p.Gly416Cys)
c.1255G>T (p.Gly419Cys)
c.1426G>T (p.Gly476Cys)
c.1417G>T (p.Gly473Cys)
1g.202596771C>GCA344255617SYT2c.1246G>C (p.Gly416Arg)
c.1255G>C (p.Gly419Arg)
c.1426G>C (p.Gly476Arg)
c.1417G>C (p.Gly473Arg)
1g.202596771C>TCA344255616SYT2c.1246G>A (p.Gly416Ser)
c.1255G>A (p.Gly419Ser)
c.1426G>A (p.Gly476Ser)
c.1417G>A (p.Gly473Ser)
1g.202596772C>ACA422578071SYT2c.1245G>T (p.Leu415=)
c.1254G>T (p.Leu418=)
c.1425G>T (p.Leu475=)
c.1416G>T (p.Leu472=)
1g.202596772C=CA2481403108SYT2c.1245G= (p.Leu415=)
c.1254G= (p.Leu418=)
c.1425G= (p.Leu475=)
c.1416G= (p.Leu472=)
1g.202596772C>GCA422578072SYT2c.1245G>C (p.Leu415=)
c.1254G>C (p.Leu418=)
c.1425G>C (p.Leu475=)
c.1416G>C (p.Leu472=)
1g.202596772C>TCA422578073SYT2c.1245G>A (p.Leu415=)
c.1254G>A (p.Leu418=)
c.1425G>A (p.Leu475=)
c.1416G>A (p.Leu472=)
 dbSNP gnomAD v2 gnomAD v4
1g.202596773A>CCA344255621SYT2c.1244T>G (p.Leu415Arg)
c.1253T>G (p.Leu418Arg)
c.1424T>G (p.Leu475Arg)
c.1415T>G (p.Leu472Arg)
 gnomAD v4
1g.202596773A>GCA344255623SYT2c.1244T>C (p.Leu415Pro)
c.1253T>C (p.Leu418Pro)
c.1424T>C (p.Leu475Pro)
c.1415T>C (p.Leu472Pro)
1g.202596773A>TCA344255624SYT2c.1244T>A (p.Leu415Gln)
c.1253T>A (p.Leu418Gln)
c.1424T>A (p.Leu475Gln)
c.1415T>A (p.Leu472Gln)
1g.202596774G>ACA422578074SYT2c.1243C>T (p.Leu415=)
c.1252C>T (p.Leu418=)
c.1423C>T (p.Leu475=)
c.1414C>T (p.Leu472=)
1g.202596774G>CCA344255626SYT2c.1243C>G (p.Leu415Val)
c.1252C>G (p.Leu418Val)
c.1423C>G (p.Leu475Val)
c.1414C>G (p.Leu472Val)
1g.202596774G>TCA344255627SYT2c.1243C>A (p.Leu415Met)
c.1252C>A (p.Leu418Met)
c.1423C>A (p.Leu475Met)
c.1414C>A (p.Leu472Met)
1g.202596775G>ACA1333584SYT2c.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
1g.202596775G>CCA422578075SYT2c.1242C>G (p.Leu414=)
c.1251C>G (p.Leu417=)
c.1422C>G (p.Leu474=)
c.1413C>G (p.Leu471=)
1g.202596775G=CA2481403109SYT2c.1242C= (p.Leu414=)
c.1251C= (p.Leu417=)
c.1422C= (p.Leu474=)
c.1413C= (p.Leu471=)
1g.202596775G>TCA422578076SYT2c.1242C>A (p.Leu414=)
c.1251C>A (p.Leu417=)
c.1422C>A (p.Leu474=)
c.1413C>A (p.Leu471=)
1g.202596776A>CCA344255630SYT2c.1241T>G (p.Leu414Arg)
c.1250T>G (p.Leu417Arg)
c.1421T>G (p.Leu474Arg)
c.1412T>G (p.Leu471Arg)
1g.202596776A>GCA344255632SYT2c.1241T>C (p.Leu414Pro)
c.1250T>C (p.Leu417Pro)
c.1421T>C (p.Leu474Pro)
c.1412T>C (p.Leu471Pro)
1g.202596776A>TCA344255634SYT2c.1241T>A (p.Leu414His)
c.1250T>A (p.Leu417His)
c.1421T>A (p.Leu474His)
c.1412T>A (p.Leu471His)
1g.202596777G>ACA344255635SYT2c.1240C>T (p.Leu414Phe)
c.1249C>T (p.Leu417Phe)
c.1420C>T (p.Leu474Phe)
c.1411C>T (p.Leu471Phe)
1g.202596777G>CCA344255636SYT2c.1240C>G (p.Leu414Val)
c.1249C>G (p.Leu417Val)
c.1420C>G (p.Leu474Val)
c.1411C>G (p.Leu471Val)
1g.202596777G=CA2481403110SYT2c.1240C= (p.Leu414=)
c.1249C= (p.Leu417=)
c.1420C= (p.Leu474=)
c.1411C= (p.Leu471=)
1g.202596777G>TCA1333585SYT2c.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
1g.202596778T>ACA422578077SYT2c.1239A>T (p.Ala413=)
c.1248A>T (p.Ala416=)
c.1419A>T (p.Ala473=)
c.1410A>T (p.Ala470=)
1g.202596778T>CCA422578078SYT2c.1239A>G (p.Ala413=)
c.1248A>G (p.Ala416=)
c.1419A>G (p.Ala473=)
c.1410A>G (p.Ala470=)
 gnomAD v4
1g.202596778T>GCA422578079SYT2c.1239A>C (p.Ala413=)
c.1248A>C (p.Ala416=)
c.1419A>C (p.Ala473=)
c.1410A>C (p.Ala470=)
1g.202596779G>ACA1333586SYT2c.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
1g.202596779G>CCA344255639SYT2c.1238C>G (p.Ala413Gly)
c.1247C>G (p.Ala416Gly)
c.1418C>G (p.Ala473Gly)
c.1409C>G (p.Ala470Gly)
1g.202596779G=CA1141889976SYT2c.1238C= (p.Ala413=)
c.1247C= (p.Ala416=)
c.1418C= (p.Ala473=)
c.1409C= (p.Ala470=)
1g.202596779G>TCA344255638SYT2c.1238C>A (p.Ala413Glu)
c.1247C>A (p.Ala416Glu)
c.1418C>A (p.Ala473Glu)
c.1409C>A (p.Ala470Glu)
1g.202596780C>ACA344255640SYT2c.1237G>T (p.Ala413Ser)
c.1246G>T (p.Ala416Ser)
c.1417G>T (p.Ala473Ser)
c.1408G>T (p.Ala470Ser)
1g.202596780C=CA2481403111SYT2c.1237G= (p.Ala413=)
c.1246G= (p.Ala416=)
c.1417G= (p.Ala473=)
c.1408G= (p.Ala470=)
1g.202596780C>GCA344255642SYT2c.1237G>C (p.Ala413Pro)
c.1246G>C (p.Ala416Pro)
c.1417G>C (p.Ala473Pro)
c.1408G>C (p.Ala470Pro)
1g.202596780C>TCA344255641SYT2c.1237G>A (p.Ala413Thr)
c.1246G>A (p.Ala416Thr)
c.1417G>A (p.Ala473Thr)
c.1408G>A (p.Ala470Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.202596781A>CCA344255644SYT2c.1236T>G (p.Asp412Glu)
c.1245T>G (p.Asp415Glu)
c.1416T>G (p.Asp472Glu)
c.1407T>G (p.Asp469Glu)
1g.202596781A>GCA422578080SYT2c.1236T>C (p.Asp412=)
c.1245T>C (p.Asp415=)
c.1416T>C (p.Asp472=)
c.1407T>C (p.Asp469=)
1g.202596781A>TCA344255646SYT2c.1236T>A (p.Asp412Glu)
c.1245T>A (p.Asp415Glu)
c.1416T>A (p.Asp472Glu)
c.1407T>A (p.Asp469Glu)
1g.202596782T>ACA344255647SYT2c.1235A>T (p.Asp412Val)
c.1244A>T (p.Asp415Val)
c.1415A>T (p.Asp472Val)
c.1406A>T (p.Asp469Val)
1g.202596782T>CCA344255649SYT2c.1235A>G (p.Asp412Gly)
c.1244A>G (p.Asp415Gly)
c.1415A>G (p.Asp472Gly)
c.1406A>G (p.Asp469Gly)
1g.202596782T>GCA344255651SYT2c.1235A>C (p.Asp412Ala)
c.1244A>C (p.Asp415Ala)
c.1415A>C (p.Asp472Ala)
c.1406A>C (p.Asp469Ala)
1g.202596783C>ACA344255653SYT2c.1234G>T (p.Asp412Tyr)
c.1243G>T (p.Asp415Tyr)
c.1414G>T (p.Asp472Tyr)
c.1405G>T (p.Asp469Tyr)
1g.202596783C=CA2481403112SYT2c.1234G= (p.Asp412=)
c.1243G= (p.Asp415=)
c.1414G= (p.Asp472=)
c.1405G= (p.Asp469=)
1g.202596783C>GCA344255654SYT2c.1234G>C (p.Asp412His)
c.1243G>C (p.Asp415His)
c.1414G>C (p.Asp472His)
c.1405G>C (p.Asp469His)
 gnomAD v4
1g.202596783C>TCA344255655SYT2c.1234G>A (p.Asp412Asn)
c.1243G>A (p.Asp415Asn)
c.1414G>A (p.Asp472Asn)
c.1405G>A (p.Asp469Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.202596784C>ACA422578081SYT2c.1233G>T (p.Val411=)
c.1242G>T (p.Val414=)
c.1413G>T (p.Val471=)
c.1404G>T (p.Val468=)
1g.202596784C=CA1146522622SYT2c.1233G= (p.Val411=)
c.1242G= (p.Val414=)
c.1413G= (p.Val471=)
c.1404G= (p.Val468=)
1g.202596784C>GCA422578082SYT2c.1233G>C (p.Val411=)
c.1242G>C (p.Val414=)
c.1413G>C (p.Val471=)
c.1404G>C (p.Val468=)
 gnomAD v4
1g.202596784C>TCA1333587SYT2c.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
1g.202596785A>CCA344255658SYT2c.1232T>G (p.Val411Gly)
c.1241T>G (p.Val414Gly)
c.1412T>G (p.Val471Gly)
c.1403T>G (p.Val468Gly)
1g.202596785A>GCA344255659SYT2c.1232T>C (p.Val411Ala)
c.1241T>C (p.Val414Ala)
c.1412T>C (p.Val471Ala)
c.1403T>C (p.Val468Ala)
1g.202596785A>TCA344255660SYT2c.1232T>A (p.Val411Glu)
c.1241T>A (p.Val414Glu)
c.1412T>A (p.Val471Glu)
c.1403T>A (p.Val468Glu)
1g.202596786C>ACA344255662SYT2c.1231G>T (p.Val411Leu)
c.1240G>T (p.Val414Leu)
c.1411G>T (p.Val471Leu)
c.1402G>T (p.Val468Leu)
1g.202596786C>GCA344255666SYT2c.1231G>C (p.Val411Leu)
c.1240G>C (p.Val414Leu)
c.1411G>C (p.Val471Leu)
c.1402G>C (p.Val468Leu)
 gnomAD v4
1g.202596786C>TCA344255664SYT2c.1231G>A (p.Val411Met)
c.1240G>A (p.Val414Met)
c.1411G>A (p.Val471Met)
c.1402G>A (p.Val468Met)
 gnomAD v4
1g.202596793_202596795delCA2649903277SYT2c.1229_1231del (p.Glu410del)
c.1238_1240del (p.Glu413del)
c.1409_1411del (p.Glu470del)
c.1400_1402del (p.Glu467del)
 gnomAD v4
1g.202596787C>ACA344255667SYT2c.1230G>T (p.Glu410Asp)
c.1239G>T (p.Glu413Asp)
c.1410G>T (p.Glu470Asp)
c.1401G>T (p.Glu467Asp)
1g.202596787C>GCA344255669SYT2c.1230G>C (p.Glu410Asp)
c.1239G>C (p.Glu413Asp)
c.1410G>C (p.Glu470Asp)
c.1401G>C (p.Glu467Asp)
 ClinVar
1g.202596787C>TCA422578083SYT2c.1230G>A (p.Glu410=)
c.1239G>A (p.Glu413=)
c.1410G>A (p.Glu470=)
c.1401G>A (p.Glu467=)
1g.202596788T>ACA344255671SYT2c.1229A>T (p.Glu410Val)
c.1238A>T (p.Glu413Val)
c.1409A>T (p.Glu470Val)
c.1400A>T (p.Glu467Val)
1g.202596788T>CCA344255672SYT2c.1229A>G (p.Glu410Gly)
c.1238A>G (p.Glu413Gly)
c.1409A>G (p.Glu470Gly)
c.1400A>G (p.Glu467Gly)
1g.202596788T>GCA344255674SYT2c.1229A>C (p.Glu410Ala)
c.1238A>C (p.Glu413Ala)
c.1409A>C (p.Glu470Ala)
c.1400A>C (p.Glu467Ala)
1g.202596789C>ACA344255676SYT2c.1228G>T (p.Glu410Ter)
c.1237G>T (p.Glu413Ter)
c.1408G>T (p.Glu470Ter)
c.1399G>T (p.Glu467Ter)
1g.202596789C=CA2481403113SYT2c.1228G= (p.Glu410=)
c.1237G= (p.Glu413=)
c.1408G= (p.Glu470=)
c.1399G= (p.Glu467=)
1g.202596789C>GCA344255678SYT2c.1228G>C (p.Glu410Gln)
c.1237G>C (p.Glu413Gln)
c.1408G>C (p.Glu470Gln)
c.1399G>C (p.Glu467Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.202596789C>TCA344255679SYT2c.1228G>A (p.Glu410Lys)
c.1237G>A (p.Glu413Lys)
c.1408G>A (p.Glu470Lys)
c.1399G>A (p.Glu467Lys)
1g.202596790C>ACA344255681SYT2c.1227G>T (p.Glu409Asp)
c.1236G>T (p.Glu412Asp)
c.1407G>T (p.Glu469Asp)
c.1398G>T (p.Glu466Asp)
1g.202596790C>GCA344255683SYT2c.1227G>C (p.Glu409Asp)
c.1236G>C (p.Glu412Asp)
c.1407G>C (p.Glu469Asp)
c.1398G>C (p.Glu466Asp)
 gnomAD v4
1g.202596790C>TCA422578085SYT2c.1227G>A (p.Glu409=)
c.1236G>A (p.Glu412=)
c.1407G>A (p.Glu469=)
c.1398G>A (p.Glu466=)
1g.202596791T>ACA344255687SYT2c.1226A>T (p.Glu409Val)
c.1235A>T (p.Glu412Val)
c.1406A>T (p.Glu469Val)
c.1397A>T (p.Glu466Val)
1g.202596791T>CCA344255688SYT2c.1226A>G (p.Glu409Gly)
c.1235A>G (p.Glu412Gly)
c.1406A>G (p.Glu469Gly)
c.1397A>G (p.Glu466Gly)
1g.202596791T>GCA344255685SYT2c.1226A>C (p.Glu409Ala)
c.1235A>C (p.Glu412Ala)
c.1406A>C (p.Glu469Ala)
c.1397A>C (p.Glu466Ala)
1g.202596792C>ACA344255690SYT2c.1225G>T (p.Glu409Ter)
c.1234G>T (p.Glu412Ter)
c.1405G>T (p.Glu469Ter)
c.1396G>T (p.Glu466Ter)
1g.202596792C>GCA344255692SYT2c.1225G>C (p.Glu409Gln)
c.1234G>C (p.Glu412Gln)
c.1405G>C (p.Glu469Gln)
c.1396G>C (p.Glu466Gln)
1g.202596792C>TCA344255694SYT2c.1225G>A (p.Glu409Lys)
c.1234G>A (p.Glu412Lys)
c.1405G>A (p.Glu469Lys)
c.1396G>A (p.Glu466Lys)
1g.202596793C>ACA344255695SYT2c.1224G>T (p.Glu408Asp)
c.1233G>T (p.Glu411Asp)
c.1404G>T (p.Glu468Asp)
c.1395G>T (p.Glu465Asp)
1g.202596793C=CA1148012660SYT2c.1224G= (p.Glu408=)
c.1233G= (p.Glu411=)
c.1404G= (p.Glu468=)
c.1395G= (p.Glu465=)
1g.202596793C>GCA344255697SYT2c.1224G>C (p.Glu408Asp)
c.1233G>C (p.Glu411Asp)
c.1404G>C (p.Glu468Asp)
c.1395G>C (p.Glu465Asp)
1g.202596793C>TCA1333588SYT2c.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
1g.202596794T>ACA344255699SYT2c.1223A>T (p.Glu408Val)
c.1232A>T (p.Glu411Val)
c.1403A>T (p.Glu468Val)
c.1394A>T (p.Glu465Val)
1g.202596794T>CCA344255700SYT2c.1223A>G (p.Glu408Gly)
c.1232A>G (p.Glu411Gly)
c.1403A>G (p.Glu468Gly)
c.1394A>G (p.Glu465Gly)
1g.202596794T>GCA35574995SYT2c.1223A>C (p.Glu408Ala)
c.1232A>C (p.Glu411Ala)
c.1403A>C (p.Glu468Ala)
c.1394A>C (p.Glu465Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.202596794T=CA2481403114SYT2c.1223A= (p.Glu408=)
c.1232A= (p.Glu411=)
c.1403A= (p.Glu468=)
c.1394A= (p.Glu465=)
1g.202596795C>ACA344255702SYT2c.1222G>T (p.Glu408Ter)
c.1231G>T (p.Glu411Ter)
c.1402G>T (p.Glu468Ter)
c.1393G>T (p.Glu465Ter)
1g.202596795C>GCA344255704SYT2c.1222G>C (p.Glu408Gln)
c.1231G>C (p.Glu411Gln)
c.1402G>C (p.Glu468Gln)
c.1393G>C (p.Glu465Gln)
1g.202596795C>TCA344255706SYT2c.1222G>A (p.Glu408Lys)
c.1231G>A (p.Glu411Lys)
c.1402G>A (p.Glu468Lys)
c.1393G>A (p.Glu465Lys)
 gnomAD v4
1g.202596796A>CCA422578090SYT2c.1221T>G (p.Pro407=)
c.1230T>G (p.Pro410=)
c.1401T>G (p.Pro467=)
c.1392T>G (p.Pro464=)
 gnomAD v4
1g.202596796A>GCA422578091SYT2c.1221T>C (p.Pro407=)
c.1230T>C (p.Pro410=)
c.1401T>C (p.Pro467=)
c.1392T>C (p.Pro464=)
1g.202596796A>TCA422578092SYT2c.1221T>A (p.Pro407=)
c.1230T>A (p.Pro410=)
c.1401T>A (p.Pro467=)
c.1392T>A (p.Pro464=)
1g.202596797G>ACA344255709SYT2c.1220C>T (p.Pro407Leu)
c.1229C>T (p.Pro410Leu)
c.1400C>T (p.Pro467Leu)
c.1391C>T (p.Pro464Leu)
1g.202596797G>CCA344255711SYT2c.1220C>G (p.Pro407Arg)
c.1229C>G (p.Pro410Arg)
c.1400C>G (p.Pro467Arg)
c.1391C>G (p.Pro464Arg)
1g.202596797G>TCA344255707SYT2c.1220C>A (p.Pro407His)
c.1229C>A (p.Pro410His)
c.1400C>A (p.Pro467His)
c.1391C>A (p.Pro464His)
 COSMIC
1g.202596798G>ACA1333589SYT2c.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
1g.202596798G>CCA344255713SYT2c.1219C>G (p.Pro407Ala)
c.1228C>G (p.Pro410Ala)
c.1399C>G (p.Pro467Ala)
c.1390C>G (p.Pro464Ala)
1g.202596798G=CA2481403115SYT2c.1219C= (p.Pro407=)
c.1228C= (p.Pro410=)
c.1399C= (p.Pro467=)
c.1390C= (p.Pro464=)
1g.202596798G>TCA1333590SYT2c.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
1g.202596799C>ACA344255716SYT2c.1218G>T (p.Lys406Asn)
c.1227G>T (p.Lys409Asn)
c.1398G>T (p.Lys466Asn)
c.1389G>T (p.Lys463Asn)
1g.202596799C=CA2481403116SYT2c.1218G= (p.Lys406=)
c.1227G= (p.Lys409=)
c.1398G= (p.Lys466=)
c.1389G= (p.Lys463=)
1g.202596799C>GCA344255717SYT2c.1218G>C (p.Lys406Asn)
c.1227G>C (p.Lys409Asn)
c.1398G>C (p.Lys466Asn)
c.1389G>C (p.Lys463Asn)
1g.202596799C>TCA35575029SYT2c.1218G>A (p.Lys406=)
c.1227G>A (p.Lys409=)
c.1398G>A (p.Lys466=)
c.1389G>A (p.Lys463=)
 dbSNP
1g.202596800T>ACA344255719SYT2c.1217A>T (p.Lys406Met)
c.1226A>T (p.Lys409Met)
c.1397A>T (p.Lys466Met)
c.1388A>T (p.Lys463Met)
1g.202596800T>CCA344255721SYT2c.1217A>G (p.Lys406Arg)
c.1226A>G (p.Lys409Arg)
c.1397A>G (p.Lys466Arg)
c.1388A>G (p.Lys463Arg)
1g.202596800T>GCA344255720SYT2c.1217A>C (p.Lys406Thr)
c.1226A>C (p.Lys409Thr)
c.1397A>C (p.Lys466Thr)
c.1388A>C (p.Lys463Thr)
1g.202596801T>ACA344255722SYT2c.1216A>T (p.Lys406Ter)
c.1225A>T (p.Lys409Ter)
c.1396A>T (p.Lys466Ter)
c.1387A>T (p.Lys463Ter)
1g.202596801T>CCA344255723SYT2c.1216A>G (p.Lys406Glu)
c.1225A>G (p.Lys409Glu)
c.1396A>G (p.Lys466Glu)
c.1387A>G (p.Lys463Glu)
1g.202596801T>GCA344255724SYT2c.1216A>C (p.Lys406Gln)
c.1225A>C (p.Lys409Gln)
c.1396A>C (p.Lys466Gln)
c.1387A>C (p.Lys463Gln)
1g.202596802G>ACA422578103SYT2c.1215C>T (p.Leu405=)
c.1224C>T (p.Leu408=)
c.1395C>T (p.Leu465=)
c.1386C>T (p.Leu462=)
1g.202596802G>CCA1333591SYT2c.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
1g.202596802G=CA1148731012SYT2c.1215C= (p.Leu405=)
c.1224C= (p.Leu408=)
c.1395C= (p.Leu465=)
c.1386C= (p.Leu462=)
1g.202596802G>TCA422578105SYT2c.1215C>A (p.Leu405=)
c.1224C>A (p.Leu408=)
c.1395C>A (p.Leu465=)
c.1386C>A (p.Leu462=)
1g.202596803A>CCA344255727SYT2c.1214T>G (p.Leu405Arg)
c.1223T>G (p.Leu408Arg)
c.1394T>G (p.Leu465Arg)
c.1385T>G (p.Leu462Arg)
1g.202596803A>GCA344255726SYT2c.1214T>C (p.Leu405Pro)
c.1223T>C (p.Leu408Pro)
c.1394T>C (p.Leu465Pro)
c.1385T>C (p.Leu462Pro)
1g.202596803A>TCA344255725SYT2c.1214T>A (p.Leu405His)
c.1223T>A (p.Leu408His)
c.1394T>A (p.Leu465His)
c.1385T>A (p.Leu462His)
1g.202596804G>ACA35575036SYT2c.1213C>T (p.Leu405Phe)
c.1222C>T (p.Leu408Phe)
c.1393C>T (p.Leu465Phe)
c.1384C>T (p.Leu462Phe)
 dbSNP
1g.202596804G>CCA344255729SYT2c.1213C>G (p.Leu405Val)
c.1222C>G (p.Leu408Val)
c.1393C>G (p.Leu465Val)
c.1384C>G (p.Leu462Val)
1g.202596804G=CA1143635172SYT2c.1213C= (p.Leu405=)
c.1222C= (p.Leu408=)
c.1393C= (p.Leu465=)
c.1384C= (p.Leu462=)
1g.202596804G>TCA344255728SYT2c.1213C>A (p.Leu405Ile)
c.1222C>A (p.Leu408Ile)
c.1393C>A (p.Leu465Ile)
c.1384C>A (p.Leu462Ile)
1g.202596805C>ACA422578107SYT2c.1212G>T (p.Ser404=)
c.1221G>T (p.Ser407=)
c.1392G>T (p.Ser464=)
c.1383G>T (p.Ser461=)
 gnomAD v4
1g.202596805C=CA2481403117SYT2c.1212G= (p.Ser404=)
c.1221G= (p.Ser407=)
c.1392G= (p.Ser464=)
c.1383G= (p.Ser461=)
1g.202596805C>GCA422578108SYT2c.1212G>C (p.Ser404=)
c.1221G>C (p.Ser407=)
c.1392G>C (p.Ser464=)
c.1383G>C (p.Ser461=)
 gnomAD v4
1g.202596805C>TCA1333592SYT2c.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
1g.202596806G>ACA344255731SYT2c.1211C>T (p.Ser404Leu)
c.1220C>T (p.Ser407Leu)
c.1391C>T (p.Ser464Leu)
c.1382C>T (p.Ser461Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.202596806G>CCA344255730SYT2c.1211C>G (p.Ser404Trp)
c.1220C>G (p.Ser407Trp)
c.1391C>G (p.Ser464Trp)
c.1382C>G (p.Ser461Trp)
1g.202596806G=CA2481403118SYT2c.1211C= (p.Ser404=)
c.1220C= (p.Ser407=)
c.1391C= (p.Ser464=)
c.1382C= (p.Ser461=)
1g.202596806G>TCA344255732SYT2c.1211C>A (p.Ser404Ter)
c.1220C>A (p.Ser407Ter)
c.1391C>A (p.Ser464Ter)
c.1382C>A (p.Ser461Ter)
1g.202596807A>CCA344255733SYT2c.1210T>G (p.Ser404Ala)
c.1219T>G (p.Ser407Ala)
c.1390T>G (p.Ser464Ala)
c.1381T>G (p.Ser461Ala)
1g.202596807A>GCA344255734SYT2c.1210T>C (p.Ser404Pro)
c.1219T>C (p.Ser407Pro)
c.1390T>C (p.Ser464Pro)
c.1381T>C (p.Ser461Pro)
1g.202596807A>TCA344255735SYT2c.1210T>A (p.Ser404Thr)
c.1219T>A (p.Ser407Thr)
c.1390T>A (p.Ser464Thr)
c.1381T>A (p.Ser461Thr)
1g.202596808G>ACA422578110SYT2c.1209C>T (p.His403=)
c.1218C>T (p.His406=)
c.1389C>T (p.His463=)
c.1380C>T (p.His460=)
 gnomAD v4
1g.202596808G>CCA344255736SYT2c.1209C>G (p.His403Gln)
c.1218C>G (p.His406Gln)
c.1389C>G (p.His463Gln)
c.1380C>G (p.His460Gln)
1g.202596808G>TCA344255737SYT2c.1209C>A (p.His403Gln)
c.1218C>A (p.His406Gln)
c.1389C>A (p.His463Gln)
c.1380C>A (p.His460Gln)
1g.202596809T>ACA344255738SYT2c.1208A>T (p.His403Leu)
c.1217A>T (p.His406Leu)
c.1388A>T (p.His463Leu)
c.1379A>T (p.His460Leu)
1g.202596809T>CCA344255739SYT2c.1208A>G (p.His403Arg)
c.1217A>G (p.His406Arg)
c.1388A>G (p.His463Arg)
c.1379A>G (p.His460Arg)
1g.202596809T>GCA344255740SYT2c.1208A>C (p.His403Pro)
c.1217A>C (p.His406Pro)
c.1388A>C (p.His463Pro)
c.1379A>C (p.His460Pro)
1g.202596810G>ACA344255742SYT2c.1207C>T (p.His403Tyr)
c.1216C>T (p.His406Tyr)
c.1387C>T (p.His463Tyr)
c.1378C>T (p.His460Tyr)
1g.202596810G>CCA344255743SYT2c.1207C>G (p.His403Asp)
c.1216C>G (p.His406Asp)
c.1387C>G (p.His463Asp)
c.1378C>G (p.His460Asp)
1g.202596810G>TCA344255744SYT2c.1207C>A (p.His403Asn)
c.1216C>A (p.His406Asn)
c.1387C>A (p.His463Asn)
c.1378C>A (p.His460Asn)
1g.202596811C>ACA344255747SYT2c.1206G>T (p.Trp402Cys)
c.1215G>T (p.Trp405Cys)
c.1386G>T (p.Trp462Cys)
c.1377G>T (p.Trp459Cys)
1g.202596811C>GCA344255746SYT2c.1206G>C (p.Trp402Cys)
c.1215G>C (p.Trp405Cys)
c.1386G>C (p.Trp462Cys)
c.1377G>C (p.Trp459Cys)
1g.202596811C>TCA344255745SYT2c.1206G>A (p.Trp402Ter)
c.1215G>A (p.Trp405Ter)
c.1386G>A (p.Trp462Ter)
c.1377G>A (p.Trp459Ter)
1g.202596812C>ACA344255748SYT2c.1205G>T (p.Trp402Leu)
c.1214G>T (p.Trp405Leu)
c.1385G>T (p.Trp462Leu)
c.1376G>T (p.Trp459Leu)
1g.202596812C>GCA344255749SYT2c.1205G>C (p.Trp402Ser)
c.1214G>C (p.Trp405Ser)
c.1385G>C (p.Trp462Ser)
c.1376G>C (p.Trp459Ser)
1g.202596812C>TCA344255750SYT2c.1205G>A (p.Trp402Ter)
c.1214G>A (p.Trp405Ter)
c.1385G>A (p.Trp462Ter)
c.1376G>A (p.Trp459Ter)
1g.202596813A=CA2481403119SYT2c.1204T= (p.Trp402=)
c.1213T= (p.Trp405=)
c.1384T= (p.Trp462=)
c.1375T= (p.Trp459=)
1g.202596813A>CCA344255751SYT2c.1204T>G (p.Trp402Gly)
c.1213T>G (p.Trp405Gly)
c.1384T>G (p.Trp462Gly)
c.1375T>G (p.Trp459Gly)
 dbSNP gnomAD v4
1g.202596813A>GCA344255752SYT2c.1204T>C (p.Trp402Arg)
c.1213T>C (p.Trp405Arg)
c.1384T>C (p.Trp462Arg)
c.1375T>C (p.Trp459Arg)
1g.202596813A>TCA344255753SYT2c.1204T>A (p.Trp402Arg)
c.1213T>A (p.Trp405Arg)
c.1384T>A (p.Trp462Arg)
c.1375T>A (p.Trp459Arg)
1g.202596814C>ACA344255754SYT2c.1203G>T (p.Gln401His)
c.1212G>T (p.Gln404His)
c.1383G>T (p.Gln461His)
c.1374G>T (p.Gln458His)
1g.202596814C>GCA344255755SYT2c.1203G>C (p.Gln401His)
c.1212G>C (p.Gln404His)
c.1383G>C (p.Gln461His)
c.1374G>C (p.Gln458His)
1g.202596814C>TCA422578112SYT2c.1203G>A (p.Gln401=)
c.1212G>A (p.Gln404=)
c.1383G>A (p.Gln461=)
c.1374G>A (p.Gln458=)
 gnomAD v4
1g.202596815T>ACA344255756SYT2c.1202A>T (p.Gln401Leu)
c.1211A>T (p.Gln404Leu)
c.1382A>T (p.Gln461Leu)
c.1373A>T (p.Gln458Leu)
1g.202596815T>CCA1333593SYT2c.1202A>G (p.Gln401Arg)
c.1211A>G (p.Gln404Arg)
c.1382A>G (p.Gln461Arg)
c.1373A>G (p.Gln458Arg)
 dbSNP ExAC gnomAD v2
1g.202596815T>GCA344255757SYT2c.1202A>C (p.Gln401Pro)
c.1211A>C (p.Gln404Pro)
c.1382A>C (p.Gln461Pro)
c.1373A>C (p.Gln458Pro)
1g.202596815T=CA2481403120SYT2c.1202A= (p.Gln401=)
c.1211A= (p.Gln404=)
c.1382A= (p.Gln461=)
c.1373A= (p.Gln458=)
1g.202596816G>ACA344255760SYT2c.1201C>T (p.Gln401Ter)
c.1210C>T (p.Gln404Ter)
c.1381C>T (p.Gln461Ter)
c.1372C>T (p.Gln458Ter)
1g.202596816G>CCA344255759SYT2c.1201C>G (p.Gln401Glu)
c.1210C>G (p.Gln404Glu)
c.1381C>G (p.Gln461Glu)
c.1372C>G (p.Gln458Glu)
 gnomAD v4
1g.202596816G>TCA344255758SYT2c.1201C>A (p.Gln401Lys)
c.1210C>A (p.Gln404Lys)
c.1381C>A (p.Gln461Lys)
c.1372C>A (p.Gln458Lys)
1g.202596817G>ACA422578113SYT2c.1200C>T (p.Ala400=)
c.1209C>T (p.Ala403=)
c.1380C>T (p.Ala460=)
c.1371C>T (p.Ala457=)
1g.202596817G>CCA422578114SYT2c.1200C>G (p.Ala400=)
c.1209C>G (p.Ala403=)
c.1380C>G (p.Ala460=)
c.1371C>G (p.Ala457=)
1g.202596817G>TCA422578115SYT2c.1200C>A (p.Ala400=)
c.1209C>A (p.Ala403=)
c.1380C>A (p.Ala460=)
c.1371C>A (p.Ala457=)
1g.202596818G>ACA344255761SYT2c.1199C>T (p.Ala400Val)
c.1208C>T (p.Ala403Val)
c.1379C>T (p.Ala460Val)
c.1370C>T (p.Ala457Val)
 gnomAD v4
1g.202596818G>CCA344255762SYT2c.1199C>G (p.Ala400Gly)
c.1208C>G (p.Ala403Gly)
c.1379C>G (p.Ala460Gly)
c.1370C>G (p.Ala457Gly)
1g.202596818G>TCA344255763SYT2c.1199C>A (p.Ala400Asp)
c.1208C>A (p.Ala403Asp)
c.1379C>A (p.Ala460Asp)
c.1370C>A (p.Ala457Asp)
1g.202596819C>ACA344255764SYT2c.1198G>T (p.Ala400Ser)
c.1207G>T (p.Ala403Ser)
c.1378G>T (p.Ala460Ser)
c.1369G>T (p.Ala457Ser)
1g.202596819C=CA2481403121SYT2c.1198G= (p.Ala400=)
c.1207G= (p.Ala403=)
c.1378G= (p.Ala460=)
c.1369G= (p.Ala457=)
1g.202596819C>GCA344255765SYT2c.1198G>C (p.Ala400Pro)
c.1207G>C (p.Ala403Pro)
c.1378G>C (p.Ala460Pro)
c.1369G>C (p.Ala457Pro)
1g.202596819C>TCA344255766SYT2c.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
1g.202596820G>ACA1333594SYT2c.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
1g.202596820G>CCA344255767SYT2c.1197C>G (p.Ile399Met)
c.1206C>G (p.Ile402Met)
c.1377C>G (p.Ile459Met)
c.1368C>G (p.Ile456Met)
1g.202596820G=CA1139801908SYT2c.1197C= (p.Ile399=)
c.1206C= (p.Ile402=)
c.1377C= (p.Ile459=)
c.1368C= (p.Ile456=)
1g.202596820G>TCA422578116SYT2c.1197C>A (p.Ile399=)
c.1206C>A (p.Ile402=)
c.1377C>A (p.Ile459=)
c.1368C>A (p.Ile456=)
1g.202596821A>CCA344255768SYT2c.1196T>G (p.Ile399Ser)
c.1205T>G (p.Ile402Ser)
c.1376T>G (p.Ile459Ser)
c.1367T>G (p.Ile456Ser)
1g.202596821A>GCA344255769SYT2c.1196T>C (p.Ile399Thr)
c.1205T>C (p.Ile402Thr)
c.1376T>C (p.Ile459Thr)
c.1367T>C (p.Ile456Thr)
1g.202596821A>TCA344255770SYT2c.1196T>A (p.Ile399Asn)
c.1205T>A (p.Ile402Asn)
c.1376T>A (p.Ile459Asn)
c.1367T>A (p.Ile456Asn)
1g.202596822T>ACA344255773SYT2c.1195A>T (p.Ile399Phe)
c.1204A>T (p.Ile402Phe)
c.1375A>T (p.Ile459Phe)
c.1366A>T (p.Ile456Phe)
1g.202596822T>CCA344255772SYT2c.1195A>G (p.Ile399Val)
c.1204A>G (p.Ile402Val)
c.1375A>G (p.Ile459Val)
c.1366A>G (p.Ile456Val)
 dbSNP gnomAD v2 gnomAD v4
1g.202596822T>GCA344255771SYT2c.1195A>C (p.Ile399Leu)
c.1204A>C (p.Ile402Leu)
c.1375A>C (p.Ile459Leu)
c.1366A>C (p.Ile456Leu)
1g.202596822T=CA2481403122SYT2c.1195A= (p.Ile399=)
c.1204A= (p.Ile402=)
c.1375A= (p.Ile459=)
c.1366A= (p.Ile456=)
1g.202596822_202596834delinsTGGGCCTCCGGGGCA2481403123SYT2c.1183_1195delinsCCCCGGAGGCCCA (p.Pro395=)
c.1192_1204delinsCCCCGGAGGCCCA (p.Pro398=)
c.1363_1375delinsCCCCGGAGGCCCA (p.Pro455=)
c.1354_1366delinsCCCCGGAGGCCCA (p.Pro452=)
1g.202596823G>ACA422578118SYT2c.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
1g.202596823G>CCA422578119SYT2c.1194C>G (p.Pro398=)
c.1203C>G (p.Pro401=)
c.1374C>G (p.Pro458=)
c.1365C>G (p.Pro455=)
1g.202596823G=CA2481403124SYT2c.1194C= (p.Pro398=)
c.1203C= (p.Pro401=)
c.1374C= (p.Pro458=)
c.1365C= (p.Pro455=)
1g.202596823G>TCA422578120SYT2c.1194C>A (p.Pro398=)
c.1203C>A (p.Pro401=)
c.1374C>A (p.Pro458=)
c.1365C>A (p.Pro455=)
1g.202596824_202596835delCA528129031SYT2c.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
1g.202596824G>ACA344255774SYT2c.1193C>T (p.Pro398Leu)
c.1202C>T (p.Pro401Leu)
c.1373C>T (p.Pro458Leu)
c.1364C>T (p.Pro455Leu)
1g.202596824G>CCA344255775SYT2c.1193C>G (p.Pro398Arg)
c.1202C>G (p.Pro401Arg)
c.1373C>G (p.Pro458Arg)
c.1364C>G (p.Pro455Arg)
1g.202596824G>TCA344255776SYT2c.1193C>A (p.Pro398His)
c.1202C>A (p.Pro401His)
c.1373C>A (p.Pro458His)
c.1364C>A (p.Pro455His)
1g.202596825G>ACA344255777SYT2c.1192C>T (p.Pro398Ser)
c.1201C>T (p.Pro401Ser)
c.1372C>T (p.Pro458Ser)
c.1363C>T (p.Pro455Ser)
1g.202596825G>CCA344255778SYT2c.1192C>G (p.Pro398Ala)
c.1201C>G (p.Pro401Ala)
c.1372C>G (p.Pro458Ala)
c.1363C>G (p.Pro455Ala)
1g.202596825G>TCA344255779SYT2c.1192C>A (p.Pro398Thr)
c.1201C>A (p.Pro401Thr)
c.1372C>A (p.Pro458Thr)
c.1363C>A (p.Pro455Thr)
1g.202596826C>ACA344255780SYT2c.1191G>T (p.Arg397Ser)
c.1200G>T (p.Arg400Ser)
c.1371G>T (p.Arg457Ser)
c.1362G>T (p.Arg454Ser)
1g.202596826C>GCA344255781SYT2c.1191G>C (p.Arg397Ser)
c.1200G>C (p.Arg400Ser)
c.1371G>C (p.Arg457Ser)
c.1362G>C (p.Arg454Ser)
1g.202596826C>TCA422578122SYT2c.1191G>A (p.Arg397=)
c.1200G>A (p.Arg400=)
c.1371G>A (p.Arg457=)
c.1362G>A (p.Arg454=)
1g.202596827delCA2499214409SYT2c.1191del (p.Arg397SerfsTer?)
c.1200del (p.Arg400SerfsTer?)
c.1371del (p.Arg457SerfsTer?)
c.1362del (p.Arg454SerfsTer?)
 ClinVar dbSNP
1g.202596827C>ACA344255782SYT2c.1190G>T (p.Arg397Met)
c.1199G>T (p.Arg400Met)
c.1370G>T (p.Arg457Met)
c.1361G>T (p.Arg454Met)
1g.202596827C>GCA344255783SYT2c.1190G>C (p.Arg397Thr)
c.1199G>C (p.Arg400Thr)
c.1370G>C (p.Arg457Thr)
c.1361G>C (p.Arg454Thr)
1g.202596827C>TCA344255784SYT2c.1190G>A (p.Arg397Lys)
c.1199G>A (p.Arg400Lys)
c.1370G>A (p.Arg457Lys)
c.1361G>A (p.Arg454Lys)
1g.202596828T>ACA344255785SYT2c.1189A>T (p.Arg397Trp)
c.1198A>T (p.Arg400Trp)
c.1369A>T (p.Arg457Trp)
c.1360A>T (p.Arg454Trp)
1g.202596828T>CCA35575086SYT2c.1189A>G (p.Arg397Gly)
c.1198A>G (p.Arg400Gly)
c.1369A>G (p.Arg457Gly)
c.1360A>G (p.Arg454Gly)
 dbSNP
1g.202596828T>GCA422578124SYT2c.1189A>C (p.Arg397=)
c.1198A>C (p.Arg400=)
c.1369A>C (p.Arg457=)
c.1360A>C (p.Arg454=)
1g.202596828T=CA2481403125SYT2c.1189A= (p.Arg397=)
c.1198A= (p.Arg400=)
c.1369A= (p.Arg457=)
c.1360A= (p.Arg454=)
1g.202596829C>ACA422578126SYT2c.1188G>T (p.Arg396=)
c.1197G>T (p.Arg399=)
c.1368G>T (p.Arg456=)
c.1359G>T (p.Arg453=)
1g.202596829C>GCA422578128SYT2c.1188G>C (p.Arg396=)
c.1197G>C (p.Arg399=)
c.1368G>C (p.Arg456=)
c.1359G>C (p.Arg453=)
1g.202596829C>TCA422578129SYT2c.1188G>A (p.Arg396=)
c.1197G>A (p.Arg399=)
c.1368G>A (p.Arg456=)
c.1359G>A (p.Arg453=)
1g.202596830C>ACA344255786SYT2c.1187G>T (p.Arg396Leu)
c.1196G>T (p.Arg399Leu)
c.1367G>T (p.Arg456Leu)
c.1358G>T (p.Arg453Leu)
1g.202596830C=CA2481403126SYT2c.1187G= (p.Arg396=)
c.1196G= (p.Arg399=)
c.1367G= (p.Arg456=)
c.1358G= (p.Arg453=)
1g.202596830C>GCA344255787SYT2c.1187G>C (p.Arg396Pro)
c.1196G>C (p.Arg399Pro)
c.1367G>C (p.Arg456Pro)
c.1358G>C (p.Arg453Pro)
1g.202596830C>TCA35575090SYT2c.1187G>A (p.Arg396Gln)
c.1196G>A (p.Arg399Gln)
c.1367G>A (p.Arg456Gln)
c.1358G>A (p.Arg453Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.202596831G>ACA1333595SYT2c.1186C>T (p.Arg396Trp)
c.1195C>T (p.Arg399Trp)
c.1366C>T (p.Arg456Trp)
c.1357C>T (p.Arg453Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596831G>CCA344255788SYT2c.1186C>G (p.Arg396Gly)
c.1195C>G (p.Arg399Gly)
c.1366C>G (p.Arg456Gly)
c.1357C>G (p.Arg453Gly)
1g.202596831G=CA2481403127SYT2c.1186C= (p.Arg396=)
c.1195C= (p.Arg399=)
c.1366C= (p.Arg456=)
c.1357C= (p.Arg453=)
1g.202596831G>TCA422578130SYT2c.1186C>A (p.Arg396=)
c.1195C>A (p.Arg399=)
c.1366C>A (p.Arg456=)
c.1357C>A (p.Arg453=)
1g.202596832G>ACA422578131SYT2c.1185C>T (p.Pro395=)
c.1194C>T (p.Pro398=)
c.1365C>T (p.Pro455=)
c.1356C>T (p.Pro452=)
1g.202596832G>CCA422578132SYT2c.1185C>G (p.Pro395=)
c.1194C>G (p.Pro398=)
c.1365C>G (p.Pro455=)
c.1356C>G (p.Pro452=)
1g.202596832G>TCA422578133SYT2c.1185C>A (p.Pro395=)
c.1194C>A (p.Pro398=)
c.1365C>A (p.Pro455=)
c.1356C>A (p.Pro452=)
1g.202596833G>ACA344255789SYT2c.1184C>T (p.Pro395Leu)
c.1193C>T (p.Pro398Leu)
c.1364C>T (p.Pro455Leu)
c.1355C>T (p.Pro452Leu)
 gnomAD v4
1g.202596833G>CCA344255790SYT2c.1184C>G (p.Pro395Arg)
c.1193C>G (p.Pro398Arg)
c.1364C>G (p.Pro455Arg)
c.1355C>G (p.Pro452Arg)
1g.202596833G>TCA344255791SYT2c.1184C>A (p.Pro395His)
c.1193C>A (p.Pro398His)
c.1364C>A (p.Pro455His)
c.1355C>A (p.Pro452His)
1g.202596834G>ACA344255792SYT2c.1183C>T (p.Pro395Ser)
c.1192C>T (p.Pro398Ser)
c.1363C>T (p.Pro455Ser)
c.1354C>T (p.Pro452Ser)
 gnomAD v4
1g.202596834G>CCA344255793SYT2c.1183C>G (p.Pro395Ala)
c.1192C>G (p.Pro398Ala)
c.1363C>G (p.Pro455Ala)
c.1354C>G (p.Pro452Ala)
1g.202596834G=CA2481403128SYT2c.1183C= (p.Pro395=)
c.1192C= (p.Pro398=)
c.1363C= (p.Pro455=)
c.1354C= (p.Pro452=)
1g.202596834G>TCA1333596SYT2c.1183C>A (p.Pro395Thr)
c.1192C>A (p.Pro398Thr)
c.1363C>A (p.Pro455Thr)
c.1354C>A (p.Pro452Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596835G>ACA422578134SYT2c.1182C>T (p.Asn394=)
c.1191C>T (p.Asn397=)
c.1362C>T (p.Asn454=)
c.1353C>T (p.Asn451=)
 dbSNP gnomAD v4
1g.202596835G>CCA344255794SYT2c.1182C>G (p.Asn394Lys)
c.1191C>G (p.Asn397Lys)
c.1362C>G (p.Asn454Lys)
c.1353C>G (p.Asn451Lys)
1g.202596835G=CA2481403129SYT2c.1182C= (p.Asn394=)
c.1191C= (p.Asn397=)
c.1362C= (p.Asn454=)
c.1353C= (p.Asn451=)
1g.202596835G>TCA344255795SYT2c.1182C>A (p.Asn394Lys)
c.1191C>A (p.Asn397Lys)
c.1362C>A (p.Asn454Lys)
c.1353C>A (p.Asn451Lys)
1g.202596836T>ACA344255796SYT2c.1181A>T (p.Asn394Ile)
c.1190A>T (p.Asn397Ile)
c.1361A>T (p.Asn454Ile)
c.1352A>T (p.Asn451Ile)
1g.202596836T>CCA344255797SYT2c.1181A>G (p.Asn394Ser)
c.1190A>G (p.Asn397Ser)
c.1361A>G (p.Asn454Ser)
c.1352A>G (p.Asn451Ser)
 COSMIC
1g.202596836T>GCA344255798SYT2c.1181A>C (p.Asn394Thr)
c.1190A>C (p.Asn397Thr)
c.1361A>C (p.Asn454Thr)
c.1352A>C (p.Asn451Thr)
1g.202596837T>ACA344255801SYT2c.1180A>T (p.Asn394Tyr)
c.1189A>T (p.Asn397Tyr)
c.1360A>T (p.Asn454Tyr)
c.1351A>T (p.Asn451Tyr)
1g.202596837T>CCA344255799SYT2c.1180A>G (p.Asn394Asp)
c.1189A>G (p.Asn397Asp)
c.1360A>G (p.Asn454Asp)
c.1351A>G (p.Asn451Asp)
1g.202596837T>GCA344255800SYT2c.1180A>C (p.Asn394His)
c.1189A>C (p.Asn397His)
c.1360A>C (p.Asn454His)
c.1351A>C (p.Asn451His)
 dbSNP
1g.202596837T=CA2481403130SYT2c.1180A= (p.Asn394=)
c.1189A= (p.Asn397=)
c.1360A= (p.Asn454=)
c.1351A= (p.Asn451=)
1g.202596838G>ACA422578135SYT2c.1179C>T (p.Ala393=)
c.1188C>T (p.Ala396=)
c.1359C>T (p.Ala453=)
c.1350C>T (p.Ala450=)
1g.202596838G>CCA422578136SYT2c.1179C>G (p.Ala393=)
c.1188C>G (p.Ala396=)
c.1359C>G (p.Ala453=)
c.1350C>G (p.Ala450=)
1g.202596838G>TCA422578137SYT2c.1179C>A (p.Ala393=)
c.1188C>A (p.Ala396=)
c.1359C>A (p.Ala453=)
c.1350C>A (p.Ala450=)
1g.202596839G>ACA344255802SYT2c.1178C>T (p.Ala393Val)
c.1187C>T (p.Ala396Val)
c.1358C>T (p.Ala453Val)
c.1349C>T (p.Ala450Val)
 gnomAD v4
1g.202596839G>CCA344255803SYT2c.1178C>G (p.Ala393Gly)
c.1187C>G (p.Ala396Gly)
c.1358C>G (p.Ala453Gly)
c.1349C>G (p.Ala450Gly)
1g.202596839G>TCA344255804SYT2c.1178C>A (p.Ala393Asp)
c.1187C>A (p.Ala396Asp)
c.1358C>A (p.Ala453Asp)
c.1349C>A (p.Ala450Asp)

Number of alleles fetched