Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219425707_219425710delCA645369282DESn.807_810del
n.721_724del
c.1333_1336del (p.Thr445Ter)
n.188_191del
c.1330_1333del (p.Thr444Ter)
c.901_904del (p.Thr301Ter)
c.1264_1267del (p.Thr422Ter)
c.1312_1315del (p.Thr438Ter)
c.1063_1066del (p.Thr355Ter)
 ClinVar dbSNP
2g.219425710G>ACA350698588DESn.810G>A
n.724G>A
c.1336G>A (p.Val446Met)
n.191G>A
c.1333G>A (p.Val445Met)
c.904G>A (p.Val302Met)
c.1267G>A (p.Val423Met)
c.1315G>A (p.Val439Met)
c.1066G>A (p.Val356Met)
2g.219425710G>CCA350698590DESn.810G>C
n.724G>C
c.1336G>C (p.Val446Leu)
n.191G>C
c.1333G>C (p.Val445Leu)
c.904G>C (p.Val302Leu)
c.1267G>C (p.Val423Leu)
c.1315G>C (p.Val439Leu)
c.1066G>C (p.Val356Leu)
2g.219425710G>TCA350698595DESn.810G>T
n.724G>T
c.1336G>T (p.Val446Leu)
n.191G>T
c.1333G>T (p.Val445Leu)
c.904G>T (p.Val302Leu)
c.1267G>T (p.Val423Leu)
c.1315G>T (p.Val439Leu)
c.1066G>T (p.Val356Leu)
 gnomAD v4
2g.219425711T>ACA350698598DESn.811T>A
n.725T>A
c.1337T>A (p.Val446Glu)
n.192T>A
c.1334T>A (p.Val445Glu)
c.905T>A (p.Val302Glu)
c.1268T>A (p.Val423Glu)
c.1316T>A (p.Val439Glu)
c.1067T>A (p.Val356Glu)
 gnomAD v4
2g.219425711T>CCA350698603DESn.811T>C
n.725T>C
c.1337T>C (p.Val446Ala)
n.192T>C
c.1334T>C (p.Val445Ala)
c.905T>C (p.Val302Ala)
c.1268T>C (p.Val423Ala)
c.1316T>C (p.Val439Ala)
c.1067T>C (p.Val356Ala)
2g.219425711T>GCA350698606DESn.811T>G
n.725T>G
c.1337T>G (p.Val446Gly)
n.192T>G
c.1334T>G (p.Val445Gly)
c.905T>G (p.Val302Gly)
c.1268T>G (p.Val423Gly)
c.1316T>G (p.Val439Gly)
c.1067T>G (p.Val356Gly)
2g.219425712G>ACA431285588DESn.812G>A
n.726G>A
c.1338G>A (p.Val446=)
n.193G>A
c.1335G>A (p.Val445=)
c.906G>A (p.Val302=)
c.1269G>A (p.Val423=)
c.1317G>A (p.Val439=)
c.1068G>A (p.Val356=)
 dbSNP gnomAD v2 gnomAD v4
2g.219425712G>CCA431285589DESn.812G>C
n.726G>C
c.1338G>C (p.Val446=)
n.193G>C
c.1335G>C (p.Val445=)
c.906G>C (p.Val302=)
c.1269G>C (p.Val423=)
c.1317G>C (p.Val439=)
c.1068G>C (p.Val356=)
2g.219425712G=CA1329213122DESn.812G=
n.726G=
c.1338G= (p.Val446=)
n.193G=
c.1335G= (p.Val445=)
c.906G= (p.Val302=)
c.1269G= (p.Val423=)
c.1317G= (p.Val439=)
c.1068G= (p.Val356=)
2g.219425712G>TCA431285590DESn.812G>T
n.726G>T
c.1338G>T (p.Val446=)
n.193G>T
c.1335G>T (p.Val445=)
c.906G>T (p.Val302=)
c.1269G>T (p.Val423=)
c.1317G>T (p.Val439=)
c.1068G>T (p.Val356=)
 gnomAD v4
2g.219425713A>CCA350698617DESn.813A>C
n.727A>C
c.1339A>C (p.Met447Leu)
n.194A>C
c.1336A>C (p.Met446Leu)
c.907A>C (p.Met303Leu)
c.1270A>C (p.Met424Leu)
c.1318A>C (p.Met440Leu)
c.1069A>C (p.Met357Leu)
2g.219425713A>GCA350698614DESn.813A>G
n.727A>G
c.1339A>G (p.Met447Val)
n.194A>G
c.1336A>G (p.Met446Val)
c.907A>G (p.Met303Val)
c.1270A>G (p.Met424Val)
c.1318A>G (p.Met440Val)
c.1069A>G (p.Met357Val)
 gnomAD v4
2g.219425713A>TCA350698611DESn.813A>T
n.727A>T
c.1339A>T (p.Met447Leu)
n.194A>T
c.1336A>T (p.Met446Leu)
c.907A>T (p.Met303Leu)
c.1270A>T (p.Met424Leu)
c.1318A>T (p.Met440Leu)
c.1069A>T (p.Met357Leu)
 gnomAD v4
2g.219425714delCA2663252167DESn.814del
n.728del
c.1340del (p.Met447ArgfsTer?)
n.195del
c.1337del (p.Met446ArgfsTer?)
c.908del (p.Met303ArgfsTer?)
c.1271del (p.Met424ArgfsTer?)
c.1319del (p.Met440ArgfsTer?)
c.1070del (p.Met357ArgfsTer?)
 gnomAD v4
2g.219425714T>ACA350698621DESn.814T>A
n.728T>A
c.1340T>A (p.Met447Lys)
n.195T>A
c.1337T>A (p.Met446Lys)
c.908T>A (p.Met303Lys)
c.1271T>A (p.Met424Lys)
c.1319T>A (p.Met440Lys)
c.1070T>A (p.Met357Lys)
2g.219425714T>CCA350698624DESn.814T>C
n.728T>C
c.1340T>C (p.Met447Thr)
n.195T>C
c.1337T>C (p.Met446Thr)
c.908T>C (p.Met303Thr)
c.1271T>C (p.Met424Thr)
c.1319T>C (p.Met440Thr)
c.1070T>C (p.Met357Thr)
 dbSNP gnomAD v4
2g.219425714T>GCA350698627DESn.814T>G
n.728T>G
c.1340T>G (p.Met447Arg)
n.195T>G
c.1337T>G (p.Met446Arg)
c.908T>G (p.Met303Arg)
c.1271T>G (p.Met424Arg)
c.1319T>G (p.Met440Arg)
c.1070T>G (p.Met357Arg)
2g.219425714T=CA1329213123DESn.814T=
n.728T=
c.1340T= (p.Met447=)
n.195T=
c.1337T= (p.Met446=)
c.908T= (p.Met303=)
c.1271T= (p.Met424=)
c.1319T= (p.Met440=)
c.1070T= (p.Met357=)
2g.219425715G>ACA350698628DESn.815G>A
n.729G>A
c.1341G>A (p.Met447Ile)
n.196G>A
c.1338G>A (p.Met446Ile)
c.909G>A (p.Met303Ile)
c.1272G>A (p.Met424Ile)
c.1320G>A (p.Met440Ile)
c.1071G>A (p.Met357Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.219425715G>CCA350698629DESn.815G>C
n.729G>C
c.1341G>C (p.Met447Ile)
n.196G>C
c.1338G>C (p.Met446Ile)
c.909G>C (p.Met303Ile)
c.1272G>C (p.Met424Ile)
c.1320G>C (p.Met440Ile)
c.1071G>C (p.Met357Ile)
2g.219425715G=CA1329213125DESn.815G=
n.729G=
c.1341G= (p.Met447=)
n.196G=
c.1338G= (p.Met446=)
c.909G= (p.Met303=)
c.1272G= (p.Met424=)
c.1320G= (p.Met440=)
c.1071G= (p.Met357=)
2g.219425715G>TCA350698630DESn.815G>T
n.729G>T
c.1341G>T (p.Met447Ile)
n.196G>T
c.1338G>T (p.Met446Ile)
c.909G>T (p.Met303Ile)
c.1272G>T (p.Met424Ile)
c.1320G>T (p.Met440Ile)
c.1071G>T (p.Met357Ile)
 gnomAD v4
2g.219425715_219425724delinsGATCAAGACCCA1329213124DESn.815_824delinsGATCAAGACC
n.729_738delinsGATCAAGACC
c.1341_1350delinsGATCAAGACC (p.Met447=)
n.196_205delinsGATCAAGACC
c.1338_1347delinsGATCAAGACC (p.Met446=)
c.909_918delinsGATCAAGACC (p.Met303=)
c.1272_1281delinsGATCAAGACC (p.Met424=)
c.1320_1329delinsGATCAAGACC (p.Met440=)
c.1071_1080delinsGATCAAGACC (p.Met357=)
2g.219425716A=CA1329213126DESn.816A=
n.730A=
c.1342A= (p.Ile448=)
n.197A=
c.1339A= (p.Ile447=)
c.910A= (p.Ile304=)
c.1273A= (p.Ile425=)
c.1321A= (p.Ile441=)
c.1072A= (p.Ile358=)
2g.219425716A>CCA350698632DESn.816A>C
n.730A>C
c.1342A>C (p.Ile448Leu)
n.197A>C
c.1339A>C (p.Ile447Leu)
c.910A>C (p.Ile304Leu)
c.1273A>C (p.Ile425Leu)
c.1321A>C (p.Ile441Leu)
c.1072A>C (p.Ile358Leu)
2g.219425716A>GCA350698634DESn.816A>G
n.730A>G
c.1342A>G (p.Ile448Val)
n.197A>G
c.1339A>G (p.Ile447Val)
c.910A>G (p.Ile304Val)
c.1273A>G (p.Ile425Val)
c.1321A>G (p.Ile441Val)
c.1072A>G (p.Ile358Val)
 ClinVar dbSNP
2g.219425716A>TCA350698637DESn.816A>T
n.730A>T
c.1342A>T (p.Ile448Phe)
n.197A>T
c.1339A>T (p.Ile447Phe)
c.910A>T (p.Ile304Phe)
c.1273A>T (p.Ile425Phe)
c.1321A>T (p.Ile441Phe)
c.1072A>T (p.Ile358Phe)
2g.219425719_219425727delCA16617482DESn.819_827del
n.733_741del
c.1345_1353del (p.Lys449_Ile451del)
n.200_208del
c.1342_1350del (p.Lys448_Ile450del)
c.913_921del (p.Lys305_Ile307del)
c.1276_1284del (p.Lys426_Ile428del)
c.1324_1332del (p.Lys442_Ile444del)
c.1075_1083del (p.Lys359_Ile361del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219425717T>ACA350698641DESn.817T>A
n.731T>A
c.1343T>A (p.Ile448Asn)
n.198T>A
c.1340T>A (p.Ile447Asn)
c.911T>A (p.Ile304Asn)
c.1274T>A (p.Ile425Asn)
c.1322T>A (p.Ile441Asn)
c.1073T>A (p.Ile358Asn)
2g.219425717T>CCA350698646DESn.817T>C
n.731T>C
c.1343T>C (p.Ile448Thr)
n.198T>C
c.1340T>C (p.Ile447Thr)
c.911T>C (p.Ile304Thr)
c.1274T>C (p.Ile425Thr)
c.1322T>C (p.Ile441Thr)
c.1073T>C (p.Ile358Thr)
2g.219425717T>GCA350698648DESn.817T>G
n.731T>G
c.1343T>G (p.Ile448Ser)
n.198T>G
c.1340T>G (p.Ile447Ser)
c.911T>G (p.Ile304Ser)
c.1274T>G (p.Ile425Ser)
c.1322T>G (p.Ile441Ser)
c.1073T>G (p.Ile358Ser)
2g.219425718C>ACA431285592DESn.818C>A
n.732C>A
c.1344C>A (p.Ile448=)
n.199C>A
c.1341C>A (p.Ile447=)
c.912C>A (p.Ile304=)
c.1275C>A (p.Ile425=)
c.1323C>A (p.Ile441=)
c.1074C>A (p.Ile358=)
 gnomAD v4
2g.219425718C>GCA350698650DESn.818C>G
n.732C>G
c.1344C>G (p.Ile448Met)
n.199C>G
c.1341C>G (p.Ile447Met)
c.912C>G (p.Ile304Met)
c.1275C>G (p.Ile425Met)
c.1323C>G (p.Ile441Met)
c.1074C>G (p.Ile358Met)
 gnomAD v4
2g.219425718C>TCA431285591DESn.818C>T
n.732C>T
c.1344C>T (p.Ile448=)
n.199C>T
c.1341C>T (p.Ile447=)
c.912C>T (p.Ile304=)
c.1275C>T (p.Ile425=)
c.1323C>T (p.Ile441=)
c.1074C>T (p.Ile358=)
 gnomAD v4
2g.219425719A>CCA350698662DESn.819A>C
n.733A>C
c.1345A>C (p.Lys449Gln)
n.200A>C
c.1342A>C (p.Lys448Gln)
c.913A>C (p.Lys305Gln)
c.1276A>C (p.Lys426Gln)
c.1324A>C (p.Lys442Gln)
c.1075A>C (p.Lys359Gln)
2g.219425719A>GCA350698656DESn.819A>G
n.733A>G
c.1345A>G (p.Lys449Glu)
n.200A>G
c.1342A>G (p.Lys448Glu)
c.913A>G (p.Lys305Glu)
c.1276A>G (p.Lys426Glu)
c.1324A>G (p.Lys442Glu)
c.1075A>G (p.Lys359Glu)
2g.219425719A>TCA350698659DESn.819A>T
n.733A>T
c.1345A>T (p.Lys449Ter)
n.200A>T
c.1342A>T (p.Lys448Ter)
c.913A>T (p.Lys305Ter)
c.1276A>T (p.Lys426Ter)
c.1324A>T (p.Lys442Ter)
c.1075A>T (p.Lys359Ter)
2g.219425720delCA2663252169DESn.820del
n.734del
c.1346del (p.Lys449ArgfsTer?)
n.201del
c.1343del (p.Lys448ArgfsTer?)
c.914del (p.Lys305ArgfsTer?)
c.1277del (p.Lys426ArgfsTer?)
c.1325del (p.Lys442ArgfsTer?)
c.1076del (p.Lys359ArgfsTer?)
 gnomAD v4
2g.219425720A=CA1329213127DESn.820A=
n.734A=
c.1346A= (p.Lys449=)
n.201A=
c.1343A= (p.Lys448=)
c.914A= (p.Lys305=)
c.1277A= (p.Lys426=)
c.1325A= (p.Lys442=)
c.1076A= (p.Lys359=)
2g.219425720A>CCA217038DESn.820A>C
n.734A>C
c.1346A>C (p.Lys449Thr)
n.201A>C
c.1343A>C (p.Lys448Thr)
c.914A>C (p.Lys305Thr)
c.1277A>C (p.Lys426Thr)
c.1325A>C (p.Lys442Thr)
c.1076A>C (p.Lys359Thr)
 ClinVar dbSNP gnomAD v4
2g.219425720A>GCA350698669DESn.820A>G
n.734A>G
c.1346A>G (p.Lys449Arg)
n.201A>G
c.1343A>G (p.Lys448Arg)
c.914A>G (p.Lys305Arg)
c.1277A>G (p.Lys426Arg)
c.1325A>G (p.Lys442Arg)
c.1076A>G (p.Lys359Arg)
2g.219425720A>TCA350698671DESn.820A>T
n.734A>T
c.1346A>T (p.Lys449Met)
n.201A>T
c.1343A>T (p.Lys448Met)
c.914A>T (p.Lys305Met)
c.1277A>T (p.Lys426Met)
c.1325A>T (p.Lys442Met)
c.1076A>T (p.Lys359Met)
2g.219425721G>ACA431285593DESn.821G>A
n.735G>A
c.1347G>A (p.Lys449=)
n.202G>A
c.1344G>A (p.Lys448=)
c.915G>A (p.Lys305=)
c.1278G>A (p.Lys426=)
c.1326G>A (p.Lys442=)
c.1077G>A (p.Lys359=)
 gnomAD v4
2g.219425721G>CCA350698675DESn.821G>C
n.735G>C
c.1347G>C (p.Lys449Asn)
n.202G>C
c.1344G>C (p.Lys448Asn)
c.915G>C (p.Lys305Asn)
c.1278G>C (p.Lys426Asn)
c.1326G>C (p.Lys442Asn)
c.1077G>C (p.Lys359Asn)
2g.219425721G>TCA350698678DESn.821G>T
n.735G>T
c.1347G>T (p.Lys449Asn)
n.202G>T
c.1344G>T (p.Lys448Asn)
c.915G>T (p.Lys305Asn)
c.1278G>T (p.Lys426Asn)
c.1326G>T (p.Lys442Asn)
c.1077G>T (p.Lys359Asn)
 gnomAD v4
2g.219425722A>CCA350698683DESn.822A>C
n.736A>C
c.1348A>C (p.Thr450Pro)
n.203A>C
c.1345A>C (p.Thr449Pro)
c.916A>C (p.Thr306Pro)
c.1279A>C (p.Thr427Pro)
c.1327A>C (p.Thr443Pro)
c.1078A>C (p.Thr360Pro)
2g.219425722A>GCA350698686DESn.822A>G
n.736A>G
c.1348A>G (p.Thr450Ala)
n.203A>G
c.1345A>G (p.Thr449Ala)
c.916A>G (p.Thr306Ala)
c.1279A>G (p.Thr427Ala)
c.1327A>G (p.Thr443Ala)
c.1078A>G (p.Thr360Ala)
 ClinVar
2g.219425722A>TCA350698688DESn.822A>T
n.736A>T
c.1348A>T (p.Thr450Ser)
n.203A>T
c.1345A>T (p.Thr449Ser)
c.916A>T (p.Thr306Ser)
c.1279A>T (p.Thr427Ser)
c.1327A>T (p.Thr443Ser)
c.1078A>T (p.Thr360Ser)
2g.219425723C>ACA350698693DESn.823C>A
n.737C>A
c.1349C>A (p.Thr450Asn)
n.204C>A
c.1346C>A (p.Thr449Asn)
c.917C>A (p.Thr306Asn)
c.1280C>A (p.Thr427Asn)
c.1328C>A (p.Thr443Asn)
c.1079C>A (p.Thr360Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched