Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.202596840C>ACA344255805SYT2c.1177G>T (p.Ala393Ser)
c.1186G>T (p.Ala396Ser)
c.1357G>T (p.Ala453Ser)
c.1348G>T (p.Ala450Ser)
1g.202596840C>GCA344255806SYT2c.1177G>C (p.Ala393Pro)
c.1186G>C (p.Ala396Pro)
c.1357G>C (p.Ala453Pro)
c.1348G>C (p.Ala450Pro)
1g.202596840C>TCA344255807SYT2c.1177G>A (p.Ala393Thr)
c.1186G>A (p.Ala396Thr)
c.1357G>A (p.Ala453Thr)
c.1348G>A (p.Ala450Thr)
 gnomAD v4
1g.202596841C>ACA422578138SYT2c.1176G>T (p.Leu392=)
c.1185G>T (p.Leu395=)
c.1356G>T (p.Leu452=)
c.1347G>T (p.Leu449=)
1g.202596841C>GCA422578139SYT2c.1176G>C (p.Leu392=)
c.1185G>C (p.Leu395=)
c.1356G>C (p.Leu452=)
c.1347G>C (p.Leu449=)
1g.202596841C>TCA422578140SYT2c.1176G>A (p.Leu392=)
c.1185G>A (p.Leu395=)
c.1356G>A (p.Leu452=)
c.1347G>A (p.Leu449=)
1g.202596842A>CCA344255808SYT2c.1175T>G (p.Leu392Arg)
c.1184T>G (p.Leu395Arg)
c.1355T>G (p.Leu452Arg)
c.1346T>G (p.Leu449Arg)
1g.202596842A>GCA344255809SYT2c.1175T>C (p.Leu392Pro)
c.1184T>C (p.Leu395Pro)
c.1355T>C (p.Leu452Pro)
c.1346T>C (p.Leu449Pro)
1g.202596842A>TCA344255810SYT2c.1175T>A (p.Leu392Gln)
c.1184T>A (p.Leu395Gln)
c.1355T>A (p.Leu452Gln)
c.1346T>A (p.Leu449Gln)
 gnomAD v4
1g.202596843G>ACA1333597SYT2c.1174C>T (p.Leu392=)
c.1183C>T (p.Leu395=)
c.1354C>T (p.Leu452=)
c.1345C>T (p.Leu449=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.202596843G>CCA344255811SYT2c.1174C>G (p.Leu392Val)
c.1183C>G (p.Leu395Val)
c.1354C>G (p.Leu452Val)
c.1345C>G (p.Leu449Val)
1g.202596843G=CA2481403131SYT2c.1174C= (p.Leu392=)
c.1183C= (p.Leu395=)
c.1354C= (p.Leu452=)
c.1345C= (p.Leu449=)
1g.202596843G>TCA35575129SYT2c.1174C>A (p.Leu392Met)
c.1183C>A (p.Leu395Met)
c.1354C>A (p.Leu452Met)
c.1345C>A (p.Leu449Met)
 dbSNP
1g.202596844C>ACA344255813SYT2c.1173G>T (p.Met391Ile)
c.1182G>T (p.Met394Ile)
c.1353G>T (p.Met451Ile)
c.1344G>T (p.Met448Ile)
1g.202596844C>GCA344255814SYT2c.1173G>C (p.Met391Ile)
c.1182G>C (p.Met394Ile)
c.1353G>C (p.Met451Ile)
c.1344G>C (p.Met448Ile)
1g.202596844C>TCA344255812SYT2c.1173G>A (p.Met391Ile)
c.1182G>A (p.Met394Ile)
c.1353G>A (p.Met451Ile)
c.1344G>A (p.Met448Ile)
1g.202596845A=CA2481403132SYT2c.1172T= (p.Met391=)
c.1181T= (p.Met394=)
c.1352T= (p.Met451=)
c.1343T= (p.Met448=)
1g.202596845A>CCA344255815SYT2c.1172T>G (p.Met391Arg)
c.1181T>G (p.Met394Arg)
c.1352T>G (p.Met451Arg)
c.1343T>G (p.Met448Arg)
1g.202596845A>GCA344255816SYT2c.1172T>C (p.Met391Thr)
c.1181T>C (p.Met394Thr)
c.1352T>C (p.Met451Thr)
c.1343T>C (p.Met448Thr)
 dbSNP
1g.202596845A>TCA344255817SYT2c.1172T>A (p.Met391Lys)
c.1181T>A (p.Met394Lys)
c.1352T>A (p.Met451Lys)
c.1343T>A (p.Met448Lys)
1g.202596846T>ACA344255818SYT2c.1171A>T (p.Met391Leu)
c.1180A>T (p.Met394Leu)
c.1351A>T (p.Met451Leu)
c.1342A>T (p.Met448Leu)
 gnomAD v4
1g.202596846T>CCA344255819SYT2c.1171A>G (p.Met391Val)
c.1180A>G (p.Met394Val)
c.1351A>G (p.Met451Val)
c.1342A>G (p.Met448Val)
 dbSNP gnomAD v4
1g.202596846T>GCA344255820SYT2c.1171A>C (p.Met391Leu)
c.1180A>C (p.Met394Leu)
c.1351A>C (p.Met451Leu)
c.1342A>C (p.Met448Leu)
1g.202596846T=CA2481403133SYT2c.1171A= (p.Met391=)
c.1180A= (p.Met394=)
c.1351A= (p.Met451=)
c.1342A= (p.Met448=)
1g.202596847G>ACA422578141SYT2c.1170C>T (p.Asp390=)
c.1179C>T (p.Asp393=)
c.1350C>T (p.Asp450=)
c.1341C>T (p.Asp447=)
1g.202596847G>CCA344255821SYT2c.1170C>G (p.Asp390Glu)
c.1179C>G (p.Asp393Glu)
c.1350C>G (p.Asp450Glu)
c.1341C>G (p.Asp447Glu)
1g.202596847G>TCA344255822SYT2c.1170C>A (p.Asp390Glu)
c.1179C>A (p.Asp393Glu)
c.1350C>A (p.Asp450Glu)
c.1341C>A (p.Asp447Glu)
1g.202596848T>ACA344255823SYT2c.1169A>T (p.Asp390Val)
c.1178A>T (p.Asp393Val)
c.1349A>T (p.Asp450Val)
c.1340A>T (p.Asp447Val)
 gnomAD v4
1g.202596848T>CCA344255824SYT2c.1169A>G (p.Asp390Gly)
c.1178A>G (p.Asp393Gly)
c.1349A>G (p.Asp450Gly)
c.1340A>G (p.Asp447Gly)
 dbSNP gnomAD v4
1g.202596848T>GCA344255825SYT2c.1169A>C (p.Asp390Ala)
c.1178A>C (p.Asp393Ala)
c.1349A>C (p.Asp450Ala)
c.1340A>C (p.Asp447Ala)
1g.202596848T=CA2481403134SYT2c.1169A= (p.Asp390=)
c.1178A= (p.Asp393=)
c.1349A= (p.Asp450=)
c.1340A= (p.Asp447=)
1g.202596849C>ACA344255826SYT2c.1168G>T (p.Asp390Tyr)
c.1177G>T (p.Asp393Tyr)
c.1348G>T (p.Asp450Tyr)
c.1339G>T (p.Asp447Tyr)
1g.202596849C=CA2481403135SYT2c.1168G= (p.Asp390=)
c.1177G= (p.Asp393=)
c.1348G= (p.Asp450=)
c.1339G= (p.Asp447=)
1g.202596849C>GCA344255827SYT2c.1168G>C (p.Asp390His)
c.1177G>C (p.Asp393His)
c.1348G>C (p.Asp450His)
c.1339G>C (p.Asp447His)
 dbSNP gnomAD v3 gnomAD v4
1g.202596849C>TCA1333598SYT2c.1168G>A (p.Asp390Asn)
c.1177G>A (p.Asp393Asn)
c.1348G>A (p.Asp450Asn)
c.1339G>A (p.Asp447Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.202596850G>ACA1333599SYT2c.1167C>T (p.Ser389=)
c.1176C>T (p.Ser392=)
c.1347C>T (p.Ser449=)
c.1338C>T (p.Ser446=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596850G>CCA422578142SYT2c.1167C>G (p.Ser389=)
c.1176C>G (p.Ser392=)
c.1347C>G (p.Ser449=)
c.1338C>G (p.Ser446=)
1g.202596850G=CA1143910181SYT2c.1167C= (p.Ser389=)
c.1176C= (p.Ser392=)
c.1347C= (p.Ser449=)
c.1338C= (p.Ser446=)
1g.202596850G>TCA422578143SYT2c.1167C>A (p.Ser389=)
c.1176C>A (p.Ser392=)
c.1347C>A (p.Ser449=)
c.1338C>A (p.Ser446=)
1g.202596851dupCA2649903300SYT2c.1167dup (p.Asp390ArgfsTer19)
c.1176dup (p.Asp393ArgfsTer19)
c.1347dup (p.Asp450ArgfsTer19)
c.1338dup (p.Asp447ArgfsTer19)
 gnomAD v4
1g.202596851G>ACA344255828SYT2c.1166C>T (p.Ser389Phe)
c.1175C>T (p.Ser392Phe)
c.1346C>T (p.Ser449Phe)
c.1337C>T (p.Ser446Phe)
1g.202596851G>CCA344255829SYT2c.1166C>G (p.Ser389Cys)
c.1175C>G (p.Ser392Cys)
c.1346C>G (p.Ser449Cys)
c.1337C>G (p.Ser446Cys)
1g.202596851G>TCA344255830SYT2c.1166C>A (p.Ser389Tyr)
c.1175C>A (p.Ser392Tyr)
c.1346C>A (p.Ser449Tyr)
c.1337C>A (p.Ser446Tyr)
1g.202596852A=CA2481403136SYT2c.1165T= (p.Ser389=)
c.1174T= (p.Ser392=)
c.1345T= (p.Ser449=)
c.1336T= (p.Ser446=)
1g.202596852A>CCA344255831SYT2c.1165T>G (p.Ser389Ala)
c.1174T>G (p.Ser392Ala)
c.1345T>G (p.Ser449Ala)
c.1336T>G (p.Ser446Ala)
 dbSNP gnomAD v2
1g.202596852A>GCA344255832SYT2c.1165T>C (p.Ser389Pro)
c.1174T>C (p.Ser392Pro)
c.1345T>C (p.Ser449Pro)
c.1336T>C (p.Ser446Pro)
1g.202596852A>TCA344255833SYT2c.1165T>A (p.Ser389Thr)
c.1174T>A (p.Ser392Thr)
c.1345T>A (p.Ser449Thr)
c.1336T>A (p.Ser446Thr)
1g.202596853C>ACA344255834SYT2c.1164G>T (p.Trp388Cys)
c.1173G>T (p.Trp391Cys)
c.1344G>T (p.Trp448Cys)
c.1335G>T (p.Trp445Cys)
 gnomAD v4
1g.202596853C>GCA344255835SYT2c.1164G>C (p.Trp388Cys)
c.1173G>C (p.Trp391Cys)
c.1344G>C (p.Trp448Cys)
c.1335G>C (p.Trp445Cys)
1g.202596853C>TCA344255836SYT2c.1164G>A (p.Trp388Ter)
c.1173G>A (p.Trp391Ter)
c.1344G>A (p.Trp448Ter)
c.1335G>A (p.Trp445Ter)
1g.202596854C>ACA344255837SYT2c.1163G>T (p.Trp388Leu)
c.1172G>T (p.Trp391Leu)
c.1343G>T (p.Trp448Leu)
c.1334G>T (p.Trp445Leu)
1g.202596854C>GCA344255838SYT2c.1163G>C (p.Trp388Ser)
c.1172G>C (p.Trp391Ser)
c.1343G>C (p.Trp448Ser)
c.1334G>C (p.Trp445Ser)
1g.202596854C>TCA344255839SYT2c.1163G>A (p.Trp388Ter)
c.1172G>A (p.Trp391Ter)
c.1343G>A (p.Trp448Ter)
c.1334G>A (p.Trp445Ter)
1g.202596855A>CCA344255840SYT2c.1162T>G (p.Trp388Gly)
c.1171T>G (p.Trp391Gly)
c.1342T>G (p.Trp448Gly)
c.1333T>G (p.Trp445Gly)
1g.202596855A>GCA344255841SYT2c.1162T>C (p.Trp388Arg)
c.1171T>C (p.Trp391Arg)
c.1342T>C (p.Trp448Arg)
c.1333T>C (p.Trp445Arg)
1g.202596855A>TCA344255842SYT2c.1162T>A (p.Trp388Arg)
c.1171T>A (p.Trp391Arg)
c.1342T>A (p.Trp448Arg)
c.1333T>A (p.Trp445Arg)
1g.202596856G>ACA422578146SYT2c.1161C>T (p.His387=)
c.1170C>T (p.His390=)
c.1341C>T (p.His447=)
c.1332C>T (p.His444=)
1g.202596856G>CCA344255843SYT2c.1161C>G (p.His387Gln)
c.1170C>G (p.His390Gln)
c.1341C>G (p.His447Gln)
c.1332C>G (p.His444Gln)
1g.202596856G>TCA344255844SYT2c.1161C>A (p.His387Gln)
c.1170C>A (p.His390Gln)
c.1341C>A (p.His447Gln)
c.1332C>A (p.His444Gln)
1g.202596857T>ACA344255845SYT2c.1160A>T (p.His387Leu)
c.1169A>T (p.His390Leu)
c.1340A>T (p.His447Leu)
c.1331A>T (p.His444Leu)
1g.202596857T>CCA344255847SYT2c.1160A>G (p.His387Arg)
c.1169A>G (p.His390Arg)
c.1340A>G (p.His447Arg)
c.1331A>G (p.His444Arg)
1g.202596857T>GCA344255846SYT2c.1160A>C (p.His387Pro)
c.1169A>C (p.His390Pro)
c.1340A>C (p.His447Pro)
c.1331A>C (p.His444Pro)
1g.202596858G>ACA344255848SYT2c.1159C>T (p.His387Tyr)
c.1168C>T (p.His390Tyr)
c.1339C>T (p.His447Tyr)
c.1330C>T (p.His444Tyr)
1g.202596858G>CCA344255850SYT2c.1159C>G (p.His387Asp)
c.1168C>G (p.His390Asp)
c.1339C>G (p.His447Asp)
c.1330C>G (p.His444Asp)
1g.202596858G>TCA344255849SYT2c.1159C>A (p.His387Asn)
c.1168C>A (p.His390Asn)
c.1339C>A (p.His447Asn)
c.1330C>A (p.His444Asn)
1g.202596859C>ACA422578147SYT2c.1158G>T (p.Arg386=)
c.1167G>T (p.Arg389=)
c.1338G>T (p.Arg446=)
c.1329G>T (p.Arg443=)
1g.202596859C>GCA422578148SYT2c.1158G>C (p.Arg386=)
c.1167G>C (p.Arg389=)
c.1338G>C (p.Arg446=)
c.1329G>C (p.Arg443=)
1g.202596859C>TCA422578149SYT2c.1158G>A (p.Arg386=)
c.1167G>A (p.Arg389=)
c.1338G>A (p.Arg446=)
c.1329G>A (p.Arg443=)
 gnomAD v4
1g.202596860C>ACA344255851SYT2c.1157G>T (p.Arg386Leu)
c.1166G>T (p.Arg389Leu)
c.1337G>T (p.Arg446Leu)
c.1328G>T (p.Arg443Leu)
1g.202596860C=CA2481403137SYT2c.1157G= (p.Arg386=)
c.1166G= (p.Arg389=)
c.1337G= (p.Arg446=)
c.1328G= (p.Arg443=)
1g.202596860C>GCA344255852SYT2c.1157G>C (p.Arg386Pro)
c.1166G>C (p.Arg389Pro)
c.1337G>C (p.Arg446Pro)
c.1328G>C (p.Arg443Pro)
1g.202596860C>TCA344255853SYT2c.1157G>A (p.Arg386Gln)
c.1166G>A (p.Arg389Gln)
c.1337G>A (p.Arg446Gln)
c.1328G>A (p.Arg443Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.202596861G>ACA344255854SYT2c.1156C>T (p.Arg386Trp)
c.1165C>T (p.Arg389Trp)
c.1336C>T (p.Arg446Trp)
c.1327C>T (p.Arg443Trp)
 dbSNP gnomAD v4
1g.202596861G>CCA344255855SYT2c.1156C>G (p.Arg386Gly)
c.1165C>G (p.Arg389Gly)
c.1336C>G (p.Arg446Gly)
c.1327C>G (p.Arg443Gly)
1g.202596861G=CA2481403138SYT2c.1156C= (p.Arg386=)
c.1165C= (p.Arg389=)
c.1336C= (p.Arg446=)
c.1327C= (p.Arg443=)
1g.202596861G>TCA1333600SYT2c.1156C>A (p.Arg386=)
c.1165C>A (p.Arg389=)
c.1336C>A (p.Arg446=)
c.1327C>A (p.Arg443=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596862C>ACA422578150SYT2c.1155G>T (p.Leu385=)
c.1164G>T (p.Leu388=)
c.1335G>T (p.Leu445=)
c.1326G>T (p.Leu442=)
1g.202596862C>GCA422578151SYT2c.1155G>C (p.Leu385=)
c.1164G>C (p.Leu388=)
c.1335G>C (p.Leu445=)
c.1326G>C (p.Leu442=)
1g.202596862C>TCA422578152SYT2c.1155G>A (p.Leu385=)
c.1164G>A (p.Leu388=)
c.1335G>A (p.Leu445=)
c.1326G>A (p.Leu442=)
1g.202596863A>CCA344255856SYT2c.1154T>G (p.Leu385Arg)
c.1163T>G (p.Leu388Arg)
c.1334T>G (p.Leu445Arg)
c.1325T>G (p.Leu442Arg)
 gnomAD v4
1g.202596863A>GCA344255857SYT2c.1154T>C (p.Leu385Pro)
c.1163T>C (p.Leu388Pro)
c.1334T>C (p.Leu445Pro)
c.1325T>C (p.Leu442Pro)
1g.202596863A>TCA344255858SYT2c.1154T>A (p.Leu385Gln)
c.1163T>A (p.Leu388Gln)
c.1334T>A (p.Leu445Gln)
c.1325T>A (p.Leu442Gln)
1g.202596864G>ACA422578153SYT2c.1153C>T (p.Leu385=)
c.1162C>T (p.Leu388=)
c.1333C>T (p.Leu445=)
c.1324C>T (p.Leu442=)
1g.202596864G>CCA344255860SYT2c.1153C>G (p.Leu385Val)
c.1162C>G (p.Leu388Val)
c.1333C>G (p.Leu445Val)
c.1324C>G (p.Leu442Val)
 gnomAD v4
1g.202596864G>TCA344255861SYT2c.1153C>A (p.Leu385Met)
c.1162C>A (p.Leu388Met)
c.1333C>A (p.Leu445Met)
c.1324C>A (p.Leu442Met)
1g.202596865C>ACA344255862SYT2c.1152G>T (p.Glu384Asp)
c.1161G>T (p.Glu387Asp)
c.1332G>T (p.Glu444Asp)
c.1323G>T (p.Glu441Asp)
1g.202596865C=CA2481403139SYT2c.1152G= (p.Glu384=)
c.1161G= (p.Glu387=)
c.1332G= (p.Glu444=)
c.1323G= (p.Glu441=)
1g.202596865C>GCA344255863SYT2c.1152G>C (p.Glu384Asp)
c.1161G>C (p.Glu387Asp)
c.1332G>C (p.Glu444Asp)
c.1323G>C (p.Glu441Asp)
1g.202596865C>TCA35575158SYT2c.1152G>A (p.Glu384=)
c.1161G>A (p.Glu387=)
c.1332G>A (p.Glu444=)
c.1323G>A (p.Glu441=)
 dbSNP
1g.202596866T>ACA344255866SYT2c.1151A>T (p.Glu384Val)
c.1160A>T (p.Glu387Val)
c.1331A>T (p.Glu444Val)
c.1322A>T (p.Glu441Val)
1g.202596866T>CCA344255868SYT2c.1151A>G (p.Glu384Gly)
c.1160A>G (p.Glu387Gly)
c.1331A>G (p.Glu444Gly)
c.1322A>G (p.Glu441Gly)
1g.202596866T>GCA344255867SYT2c.1151A>C (p.Glu384Ala)
c.1160A>C (p.Glu387Ala)
c.1331A>C (p.Glu444Ala)
c.1322A>C (p.Glu441Ala)
1g.202596867C>ACA344255870SYT2c.1150G>T (p.Glu384Ter)
c.1159G>T (p.Glu387Ter)
c.1330G>T (p.Glu444Ter)
c.1321G>T (p.Glu441Ter)
1g.202596867C>GCA344255872SYT2c.1150G>C (p.Glu384Gln)
c.1159G>C (p.Glu387Gln)
c.1330G>C (p.Glu444Gln)
c.1321G>C (p.Glu441Gln)
1g.202596867C>TCA344255874SYT2c.1150G>A (p.Glu384Lys)
c.1159G>A (p.Glu387Lys)
c.1330G>A (p.Glu444Lys)
c.1321G>A (p.Glu441Lys)
 COSMIC
1g.202596868T>ACA422578154SYT2c.1149A>T (p.Thr383=)
c.1158A>T (p.Thr386=)
c.1329A>T (p.Thr443=)
c.1320A>T (p.Thr440=)
1g.202596868T>CCA422578155SYT2c.1149A>G (p.Thr383=)
c.1158A>G (p.Thr386=)
c.1329A>G (p.Thr443=)
c.1320A>G (p.Thr440=)
1g.202596868T>GCA422578156SYT2c.1149A>C (p.Thr383=)
c.1158A>C (p.Thr386=)
c.1329A>C (p.Thr443=)
c.1320A>C (p.Thr440=)
1g.202596869G>ACA344255876SYT2c.1148C>T (p.Thr383Ile)
c.1157C>T (p.Thr386Ile)
c.1328C>T (p.Thr443Ile)
c.1319C>T (p.Thr440Ile)
1g.202596869G>CCA344255878SYT2c.1148C>G (p.Thr383Arg)
c.1157C>G (p.Thr386Arg)
c.1328C>G (p.Thr443Arg)
c.1319C>G (p.Thr440Arg)
1g.202596869G>TCA344255880SYT2c.1148C>A (p.Thr383Lys)
c.1157C>A (p.Thr386Lys)
c.1328C>A (p.Thr443Lys)
c.1319C>A (p.Thr440Lys)
1g.202596870T>ACA344255881SYT2c.1147A>T (p.Thr383Ser)
c.1156A>T (p.Thr386Ser)
c.1327A>T (p.Thr443Ser)
c.1318A>T (p.Thr440Ser)
1g.202596870T>CCA344255883SYT2c.1147A>G (p.Thr383Ala)
c.1156A>G (p.Thr386Ala)
c.1327A>G (p.Thr443Ala)
c.1318A>G (p.Thr440Ala)
1g.202596870T>GCA344255884SYT2c.1147A>C (p.Thr383Pro)
c.1156A>C (p.Thr386Pro)
c.1327A>C (p.Thr443Pro)
c.1318A>C (p.Thr440Pro)
1g.202596871G>ACA422578157SYT2c.1146C>T (p.Gly382=)
c.1155C>T (p.Gly385=)
c.1326C>T (p.Gly442=)
c.1317C>T (p.Gly439=)
 dbSNP
1g.202596871G>CCA422578158SYT2c.1146C>G (p.Gly382=)
c.1155C>G (p.Gly385=)
c.1326C>G (p.Gly442=)
c.1317C>G (p.Gly439=)
1g.202596871G=CA2481403140SYT2c.1146C= (p.Gly382=)
c.1155C= (p.Gly385=)
c.1326C= (p.Gly442=)
c.1317C= (p.Gly439=)
1g.202596871G>TCA422578159SYT2c.1146C>A (p.Gly382=)
c.1155C>A (p.Gly385=)
c.1326C>A (p.Gly442=)
c.1317C>A (p.Gly439=)
1g.202596872C>ACA344255891SYT2c.1145G>T (p.Gly382Val)
c.1154G>T (p.Gly385Val)
c.1325G>T (p.Gly442Val)
c.1316G>T (p.Gly439Val)
1g.202596872C>GCA344255889SYT2c.1145G>C (p.Gly382Ala)
c.1154G>C (p.Gly385Ala)
c.1325G>C (p.Gly442Ala)
c.1316G>C (p.Gly439Ala)
1g.202596872C>TCA344255887SYT2c.1145G>A (p.Gly382Asp)
c.1154G>A (p.Gly385Asp)
c.1325G>A (p.Gly442Asp)
c.1316G>A (p.Gly439Asp)
1g.202596873C>ACA344255893SYT2c.1144G>T (p.Gly382Cys)
c.1153G>T (p.Gly385Cys)
c.1324G>T (p.Gly442Cys)
c.1315G>T (p.Gly439Cys)
1g.202596873C=CA2481403141SYT2c.1144G= (p.Gly382=)
c.1153G= (p.Gly385=)
c.1324G= (p.Gly442=)
c.1315G= (p.Gly439=)
1g.202596873C>GCA344255894SYT2c.1144G>C (p.Gly382Arg)
c.1153G>C (p.Gly385Arg)
c.1324G>C (p.Gly442Arg)
c.1315G>C (p.Gly439Arg)
1g.202596873C>TCA344255896SYT2c.1144G>A (p.Gly382Ser)
c.1153G>A (p.Gly385Ser)
c.1324G>A (p.Gly442Ser)
c.1315G>A (p.Gly439Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.202596874C>ACA1333602SYT2c.1143G>T (p.Thr381=)
c.1152G>T (p.Thr384=)
c.1323G>T (p.Thr441=)
c.1314G>T (p.Thr438=)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.202596874C=CA2481403142SYT2c.1143G= (p.Thr381=)
c.1152G= (p.Thr384=)
c.1323G= (p.Thr441=)
c.1314G= (p.Thr438=)
1g.202596874C>GCA422578160SYT2c.1143G>C (p.Thr381=)
c.1152G>C (p.Thr384=)
c.1323G>C (p.Thr441=)
c.1314G>C (p.Thr438=)
1g.202596874C>TCA1333601SYT2c.1143G>A (p.Thr381=)
c.1152G>A (p.Thr384=)
c.1323G>A (p.Thr441=)
c.1314G>A (p.Thr438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596875G>ACA1333603SYT2c.1142C>T (p.Thr381Met)
c.1151C>T (p.Thr384Met)
c.1322C>T (p.Thr441Met)
c.1313C>T (p.Thr438Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.202596875G>CCA344255903SYT2c.1142C>G (p.Thr381Arg)
c.1151C>G (p.Thr384Arg)
c.1322C>G (p.Thr441Arg)
c.1313C>G (p.Thr438Arg)
1g.202596875G=CA1144214195SYT2c.1142C= (p.Thr381=)
c.1151C= (p.Thr384=)
c.1322C= (p.Thr441=)
c.1313C= (p.Thr438=)
1g.202596875G>TCA344255901SYT2c.1142C>A (p.Thr381Lys)
c.1151C>A (p.Thr384Lys)
c.1322C>A (p.Thr441Lys)
c.1313C>A (p.Thr438Lys)
1g.202596876T>ACA344255906SYT2c.1141A>T (p.Thr381Ser)
c.1150A>T (p.Thr384Ser)
c.1321A>T (p.Thr441Ser)
c.1312A>T (p.Thr438Ser)
1g.202596876T>CCA344255908SYT2c.1141A>G (p.Thr381Ala)
c.1150A>G (p.Thr384Ala)
c.1321A>G (p.Thr441Ala)
c.1312A>G (p.Thr438Ala)
1g.202596876T>GCA344255910SYT2c.1141A>C (p.Thr381Pro)
c.1150A>C (p.Thr384Pro)
c.1321A>C (p.Thr441Pro)
c.1312A>C (p.Thr438Pro)
1g.202596877G>ACA422578161SYT2c.1140C>T (p.Ala380=)
c.1149C>T (p.Ala383=)
c.1320C>T (p.Ala440=)
c.1311C>T (p.Ala437=)
1g.202596877G>CCA422578162SYT2c.1140C>G (p.Ala380=)
c.1149C>G (p.Ala383=)
c.1320C>G (p.Ala440=)
c.1311C>G (p.Ala437=)
1g.202596877G>TCA422578163SYT2c.1140C>A (p.Ala380=)
c.1149C>A (p.Ala383=)
c.1320C>A (p.Ala440=)
c.1311C>A (p.Ala437=)
1g.202596878G>ACA344255912SYT2c.1139C>T (p.Ala380Val)
c.1148C>T (p.Ala383Val)
c.1319C>T (p.Ala440Val)
c.1310C>T (p.Ala437Val)
 dbSNP gnomAD v4 COSMIC
1g.202596878G>CCA344255914SYT2c.1139C>G (p.Ala380Gly)
c.1148C>G (p.Ala383Gly)
c.1319C>G (p.Ala440Gly)
c.1310C>G (p.Ala437Gly)
1g.202596878G=CA2481403143SYT2c.1139C= (p.Ala380=)
c.1148C= (p.Ala383=)
c.1319C= (p.Ala440=)
c.1310C= (p.Ala437=)
1g.202596878G>TCA344255916SYT2c.1139C>A (p.Ala380Asp)
c.1148C>A (p.Ala383Asp)
c.1319C>A (p.Ala440Asp)
c.1310C>A (p.Ala437Asp)
1g.202596879C>ACA344255917SYT2c.1138G>T (p.Ala380Ser)
c.1147G>T (p.Ala383Ser)
c.1318G>T (p.Ala440Ser)
c.1309G>T (p.Ala437Ser)
1g.202596879C>GCA344255919SYT2c.1138G>C (p.Ala380Pro)
c.1147G>C (p.Ala383Pro)
c.1318G>C (p.Ala440Pro)
c.1309G>C (p.Ala437Pro)
1g.202596879C>TCA344255918SYT2c.1138G>A (p.Ala380Thr)
c.1147G>A (p.Ala383Thr)
c.1318G>A (p.Ala440Thr)
c.1309G>A (p.Ala437Thr)
1g.202596880A>CCA344255921SYT2c.1137T>G (p.Asn379Lys)
c.1146T>G (p.Asn382Lys)
c.1317T>G (p.Asn439Lys)
c.1308T>G (p.Asn436Lys)
1g.202596880A>GCA422578164SYT2c.1137T>C (p.Asn379=)
c.1146T>C (p.Asn382=)
c.1317T>C (p.Asn439=)
c.1308T>C (p.Asn436=)
1g.202596880A>TCA344255923SYT2c.1137T>A (p.Asn379Lys)
c.1146T>A (p.Asn382Lys)
c.1317T>A (p.Asn439Lys)
c.1308T>A (p.Asn436Lys)
1g.202596881T>ACA344255925SYT2c.1136A>T (p.Asn379Ile)
c.1145A>T (p.Asn382Ile)
c.1316A>T (p.Asn439Ile)
c.1307A>T (p.Asn436Ile)
1g.202596881T>CCA344255927SYT2c.1136A>G (p.Asn379Ser)
c.1145A>G (p.Asn382Ser)
c.1316A>G (p.Asn439Ser)
c.1307A>G (p.Asn436Ser)
1g.202596881T>GCA344255929SYT2c.1136A>C (p.Asn379Thr)
c.1145A>C (p.Asn382Thr)
c.1316A>C (p.Asn439Thr)
c.1307A>C (p.Asn436Thr)
1g.202596882T>ACA344255931SYT2c.1135A>T (p.Asn379Tyr)
c.1144A>T (p.Asn382Tyr)
c.1315A>T (p.Asn439Tyr)
c.1306A>T (p.Asn436Tyr)
1g.202596882T>CCA344255932SYT2c.1135A>G (p.Asn379Asp)
c.1144A>G (p.Asn382Asp)
c.1315A>G (p.Asn439Asp)
c.1306A>G (p.Asn436Asp)
 dbSNP
1g.202596882T>GCA344255934SYT2c.1135A>C (p.Asn379His)
c.1144A>C (p.Asn382His)
c.1315A>C (p.Asn439His)
c.1306A>C (p.Asn436His)
 dbSNP gnomAD v4
1g.202596882T=CA2481403144SYT2c.1135A= (p.Asn379=)
c.1144A= (p.Asn382=)
c.1315A= (p.Asn439=)
c.1306A= (p.Asn436=)
1g.202596883G>ACA422578165SYT2c.1134C>T (p.Ser378=)
c.1143C>T (p.Ser381=)
c.1314C>T (p.Ser438=)
c.1305C>T (p.Ser435=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.202596883G>CCA344255936SYT2c.1134C>G (p.Ser378Arg)
c.1143C>G (p.Ser381Arg)
c.1314C>G (p.Ser438Arg)
c.1305C>G (p.Ser435Arg)
1g.202596883G=CA2481403145SYT2c.1134C= (p.Ser378=)
c.1143C= (p.Ser381=)
c.1314C= (p.Ser438=)
c.1305C= (p.Ser435=)
1g.202596883G>TCA344255938SYT2c.1134C>A (p.Ser378Arg)
c.1143C>A (p.Ser381Arg)
c.1314C>A (p.Ser438Arg)
c.1305C>A (p.Ser435Arg)
1g.202596884C>ACA344255943SYT2c.1133G>T (p.Ser378Ile)
c.1142G>T (p.Ser381Ile)
c.1313G>T (p.Ser438Ile)
c.1304G>T (p.Ser435Ile)
 COSMIC
1g.202596884C>GCA344255942SYT2c.1133G>C (p.Ser378Thr)
c.1142G>C (p.Ser381Thr)
c.1313G>C (p.Ser438Thr)
c.1304G>C (p.Ser435Thr)
1g.202596884C>TCA344255940SYT2c.1133G>A (p.Ser378Asn)
c.1142G>A (p.Ser381Asn)
c.1313G>A (p.Ser438Asn)
c.1304G>A (p.Ser435Asn)
 gnomAD v4
1g.202596885T>ACA344255946SYT2c.1132A>T (p.Ser378Cys)
c.1141A>T (p.Ser381Cys)
c.1312A>T (p.Ser438Cys)
c.1303A>T (p.Ser435Cys)
1g.202596885T>CCA344255950SYT2c.1132A>G (p.Ser378Gly)
c.1141A>G (p.Ser381Gly)
c.1312A>G (p.Ser438Gly)
c.1303A>G (p.Ser435Gly)
1g.202596885T>GCA344255948SYT2c.1132A>C (p.Ser378Arg)
c.1141A>C (p.Ser381Arg)
c.1312A>C (p.Ser438Arg)
c.1303A>C (p.Ser435Arg)
1g.202596886G>ACA422578166SYT2c.1131C>T (p.Gly377=)
c.1140C>T (p.Gly380=)
c.1311C>T (p.Gly437=)
c.1302C>T (p.Gly434=)
1g.202596886G>CCA422578167SYT2c.1131C>G (p.Gly377=)
c.1140C>G (p.Gly380=)
c.1311C>G (p.Gly437=)
c.1302C>G (p.Gly434=)
1g.202596886G>TCA422578168SYT2c.1131C>A (p.Gly377=)
c.1140C>A (p.Gly380=)
c.1311C>A (p.Gly437=)
c.1302C>A (p.Gly434=)
1g.202596887C>ACA344255952SYT2c.1130G>T (p.Gly377Val)
c.1139G>T (p.Gly380Val)
c.1310G>T (p.Gly437Val)
c.1301G>T (p.Gly434Val)
1g.202596887C>GCA344255954SYT2c.1130G>C (p.Gly377Ala)
c.1139G>C (p.Gly380Ala)
c.1310G>C (p.Gly437Ala)
c.1301G>C (p.Gly434Ala)
1g.202596887C>TCA344255956SYT2c.1130G>A (p.Gly377Asp)
c.1139G>A (p.Gly380Asp)
c.1310G>A (p.Gly437Asp)
c.1301G>A (p.Gly434Asp)
1g.202596888C>ACA344255958SYT2c.1129G>T (p.Gly377Cys)
c.1138G>T (p.Gly380Cys)
c.1309G>T (p.Gly437Cys)
c.1300G>T (p.Gly434Cys)
1g.202596888C>GCA344255960SYT2c.1129G>C (p.Gly377Arg)
c.1138G>C (p.Gly380Arg)
c.1309G>C (p.Gly437Arg)
c.1300G>C (p.Gly434Arg)
1g.202596888C>TCA344255962SYT2c.1129G>A (p.Gly377Ser)
c.1138G>A (p.Gly380Ser)
c.1309G>A (p.Gly437Ser)
c.1300G>A (p.Gly434Ser)
1g.202596889C>ACA422578169SYT2c.1128G>T (p.Val376=)
c.1137G>T (p.Val379=)
c.1308G>T (p.Val436=)
c.1299G>T (p.Val433=)
1g.202596889C>GCA422578170SYT2c.1128G>C (p.Val376=)
c.1137G>C (p.Val379=)
c.1308G>C (p.Val436=)
c.1299G>C (p.Val433=)
1g.202596889C>TCA422578171SYT2c.1128G>A (p.Val376=)
c.1137G>A (p.Val379=)
c.1308G>A (p.Val436=)
c.1299G>A (p.Val433=)
 ClinVar gnomAD v4
1g.202596890A>CCA344255964SYT2c.1127T>G (p.Val376Gly)
c.1136T>G (p.Val379Gly)
c.1307T>G (p.Val436Gly)
c.1298T>G (p.Val433Gly)
1g.202596890A>GCA344255966SYT2c.1127T>C (p.Val376Ala)
c.1136T>C (p.Val379Ala)
c.1307T>C (p.Val436Ala)
c.1298T>C (p.Val433Ala)
1g.202596890A>TCA344255968SYT2c.1127T>A (p.Val376Glu)
c.1136T>A (p.Val379Glu)
c.1307T>A (p.Val436Glu)
c.1298T>A (p.Val433Glu)
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=)

Number of alleles fetched