Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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)
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
2g.219425723C=CA1329213128DESn.823C=
n.737C=
c.1349C= (p.Thr450=)
n.204C=
c.1346C= (p.Thr449=)
c.917C= (p.Thr306=)
c.1280C= (p.Thr427=)
c.1328C= (p.Thr443=)
c.1079C= (p.Thr360=)
2g.219425723C>GCA350698695DESn.823C>G
n.737C>G
c.1349C>G (p.Thr450Ser)
n.204C>G
c.1346C>G (p.Thr449Ser)
c.917C>G (p.Thr306Ser)
c.1280C>G (p.Thr427Ser)
c.1328C>G (p.Thr443Ser)
c.1079C>G (p.Thr360Ser)
2g.219425723C>TCA350698697DESn.823C>T
n.737C>T
c.1349C>T (p.Thr450Ile)
n.204C>T
c.1346C>T (p.Thr449Ile)
c.917C>T (p.Thr306Ile)
c.1280C>T (p.Thr427Ile)
c.1328C>T (p.Thr443Ile)
c.1079C>T (p.Thr360Ile)
2g.219425724C>ACA431285594DESn.824C>A
n.738C>A
c.1350C>A (p.Thr450=)
n.205C>A
c.1347C>A (p.Thr449=)
c.918C>A (p.Thr306=)
c.1281C>A (p.Thr427=)
c.1329C>A (p.Thr443=)
c.1080C>A (p.Thr360=)
gnomAD v4
2g.219425724C=CA1329213129DESn.824C=
n.738C=
c.1350C= (p.Thr450=)
n.205C=
c.1347C= (p.Thr449=)
c.918C= (p.Thr306=)
c.1281C= (p.Thr427=)
c.1329C= (p.Thr443=)
c.1080C= (p.Thr360=)
2g.219425724C>GCA431285595DESn.824C>G
n.738C>G
c.1350C>G (p.Thr450=)
n.205C>G
c.1347C>G (p.Thr449=)
c.918C>G (p.Thr306=)
c.1281C>G (p.Thr427=)
c.1329C>G (p.Thr443=)
c.1080C>G (p.Thr360=)
ClinVar dbSNP gnomAD v4
2g.219425724C>TCA431285596DESn.824C>T
n.738C>T
c.1350C>T (p.Thr450=)
n.205C>T
c.1347C>T (p.Thr449=)
c.918C>T (p.Thr306=)
c.1281C>T (p.Thr427=)
c.1329C>T (p.Thr443=)
c.1080C>T (p.Thr360=)
2g.219425725A>CCA350698708DESn.825A>C
n.739A>C
c.1351A>C (p.Ile451Leu)
n.206A>C
c.1348A>C (p.Ile450Leu)
c.919A>C (p.Ile307Leu)
c.1282A>C (p.Ile428Leu)
c.1330A>C (p.Ile444Leu)
c.1081A>C (p.Ile361Leu)
2g.219425725A>GCA350698704DESn.825A>G
n.739A>G
c.1351A>G (p.Ile451Val)
n.206A>G
c.1348A>G (p.Ile450Val)
c.919A>G (p.Ile307Val)
c.1282A>G (p.Ile428Val)
c.1330A>G (p.Ile444Val)
c.1081A>G (p.Ile361Val)
gnomAD v4
2g.219425725A>TCA350698701DESn.825A>T
n.739A>T
c.1351A>T (p.Ile451Phe)
n.206A>T
c.1348A>T (p.Ile450Phe)
c.919A>T (p.Ile307Phe)
c.1282A>T (p.Ile428Phe)
c.1330A>T (p.Ile444Phe)
c.1081A>T (p.Ile361Phe)
2g.219425726T>ACA350698710DESn.826T>A
n.740T>A
c.1352T>A (p.Ile451Asn)
n.207T>A
c.1349T>A (p.Ile450Asn)
c.920T>A (p.Ile307Asn)
c.1283T>A (p.Ile428Asn)
c.1331T>A (p.Ile444Asn)
c.1082T>A (p.Ile361Asn)
gnomAD v4
2g.219425726T>CCA350698715DESn.826T>C
n.740T>C
c.1352T>C (p.Ile451Thr)
n.207T>C
c.1349T>C (p.Ile450Thr)
c.920T>C (p.Ile307Thr)
c.1283T>C (p.Ile428Thr)
c.1331T>C (p.Ile444Thr)
c.1082T>C (p.Ile361Thr)
2g.219425726T>GCA350698712DESn.826T>G
n.740T>G
c.1352T>G (p.Ile451Ser)
n.207T>G
c.1349T>G (p.Ile450Ser)
c.920T>G (p.Ile307Ser)
c.1283T>G (p.Ile428Ser)
c.1331T>G (p.Ile444Ser)
c.1082T>G (p.Ile361Ser)
2g.219425726_219425731delinsTCGAGACA1329213130DESn.826_831delinsTCGAGA
n.740_745delinsTCGAGA
c.1352_1357delinsTCGAGA (p.Ile451=)
n.207_212delinsTCGAGA
c.1349_1354delinsTCGAGA (p.Ile450=)
c.920_925delinsTCGAGA (p.Ile307=)
c.1283_1288delinsTCGAGA (p.Ile428=)
c.1331_1336delinsTCGAGA (p.Ile444=)
c.1082_1087delinsTCGAGA (p.Ile361=)
2g.219425727C>ACA431285597DESn.827C>A
n.741C>A
c.1353C>A (p.Ile451=)
n.208C>A
c.1350C>A (p.Ile450=)
c.921C>A (p.Ile307=)
c.1284C>A (p.Ile428=)
c.1332C>A (p.Ile444=)
c.1083C>A (p.Ile361=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219425727C=CA1329213131DESn.827C=
n.741C=
c.1353C= (p.Ile451=)
n.208C=
c.1350C= (p.Ile450=)
c.921C= (p.Ile307=)
c.1284C= (p.Ile428=)
c.1332C= (p.Ile444=)
c.1083C= (p.Ile361=)
2g.219425727C>GCA257644DESn.827C>G
n.741C>G
c.1353C>G (p.Ile451Met)
n.208C>G
c.1350C>G (p.Ile450Met)
c.921C>G (p.Ile307Met)
c.1284C>G (p.Ile428Met)
c.1332C>G (p.Ile444Met)
c.1083C>G (p.Ile361Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219425727C>TCA2125305DESn.827C>T
n.741C>T
c.1353C>T (p.Ile451=)
n.208C>T
c.1350C>T (p.Ile450=)
c.921C>T (p.Ile307=)
c.1284C>T (p.Ile428=)
c.1332C>T (p.Ile444=)
c.1083C>T (p.Ile361=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219425728_219425732delCA16610722DESn.828_832del
n.742_746del
c.1354_1358del (p.Glu452ThrfsTer8)
n.209_213del
c.1351_1355del (p.Glu451ThrfsTer8)
c.922_926del (p.Glu308ThrfsTer8)
c.1285_1289del (p.Glu429ThrfsTer8)
c.1333_1337del (p.Glu445ThrfsTer8)
c.1354_1358del (p.Glu452ThrfsTer20)
c.1084_1088del (p.Glu362ThrfsTer8)
ClinVar dbSNP
2g.219425728G>ACA350698725DESn.828G>A
n.742G>A
c.1354G>A (p.Glu452Lys)
n.209G>A
c.1351G>A (p.Glu451Lys)
c.922G>A (p.Glu308Lys)
c.1285G>A (p.Glu429Lys)
c.1333G>A (p.Glu445Lys)
c.1084G>A (p.Glu362Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219425728G>CCA350698728DESn.828G>C
n.742G>C
c.1354G>C (p.Glu452Gln)
n.209G>C
c.1351G>C (p.Glu451Gln)
c.922G>C (p.Glu308Gln)
c.1285G>C (p.Glu429Gln)
c.1333G>C (p.Glu445Gln)
c.1084G>C (p.Glu362Gln)
2g.219425728G=CA1329213132DESn.828G=
n.742G=
c.1354G= (p.Glu452=)
n.209G=
c.1351G= (p.Glu451=)
c.922G= (p.Glu308=)
c.1285G= (p.Glu429=)
c.1333G= (p.Glu445=)
c.1084G= (p.Glu362=)
2g.219425728G>TCA350698732DESn.828G>T
n.742G>T
c.1354G>T (p.Glu452Ter)
n.209G>T
c.1351G>T (p.Glu451Ter)
c.922G>T (p.Glu308Ter)
c.1285G>T (p.Glu429Ter)
c.1333G>T (p.Glu445Ter)
c.1084G>T (p.Glu362Ter)
gnomAD v4
2g.219425729A>CCA350698736DESn.829A>C
n.743A>C
c.1355A>C (p.Glu452Ala)
n.210A>C
c.1352A>C (p.Glu451Ala)
c.923A>C (p.Glu308Ala)
c.1286A>C (p.Glu429Ala)
c.1334A>C (p.Glu445Ala)
c.1085A>C (p.Glu362Ala)
2g.219425729A>GCA350698740DESn.829A>G
n.743A>G
c.1355A>G (p.Glu452Gly)
n.210A>G
c.1352A>G (p.Glu451Gly)
c.923A>G (p.Glu308Gly)
c.1286A>G (p.Glu429Gly)
c.1334A>G (p.Glu445Gly)
c.1085A>G (p.Glu362Gly)
2g.219425729A>TCA350698743DESn.829A>T
n.743A>T
c.1355A>T (p.Glu452Val)
n.210A>T
c.1352A>T (p.Glu451Val)
c.923A>T (p.Glu308Val)
c.1286A>T (p.Glu429Val)
c.1334A>T (p.Glu445Val)
c.1085A>T (p.Glu362Val)
gnomAD v4
2g.219425730G>ACA431285598DESn.830G>A
n.744G>A
c.1356G>A (p.Glu452=)
n.211G>A
c.1353G>A (p.Glu451=)
c.924G>A (p.Glu308=)
c.1287G>A (p.Glu429=)
c.1335G>A (p.Glu445=)
c.1086G>A (p.Glu362=)
gnomAD v4
2g.219425730G>CCA350698745DESn.830G>C
n.744G>C
c.1356G>C (p.Glu452Asp)
n.211G>C
c.1353G>C (p.Glu451Asp)
c.924G>C (p.Glu308Asp)
c.1287G>C (p.Glu429Asp)
c.1335G>C (p.Glu445Asp)
c.1086G>C (p.Glu362Asp)
2g.219425730G>TCA350698748DESn.830G>T
n.744G>T
c.1356G>T (p.Glu452Asp)
n.211G>T
c.1353G>T (p.Glu451Asp)
c.924G>T (p.Glu308Asp)
c.1287G>T (p.Glu429Asp)
c.1335G>T (p.Glu445Asp)
c.1086G>T (p.Glu362Asp)
gnomAD v4
2g.219425731A=CA1329213133DESn.831A=
n.745A=
c.1357A= (p.Thr453=)
n.212A=
c.1354A= (p.Thr452=)
c.925A= (p.Thr309=)
c.1288A= (p.Thr430=)
c.1336A= (p.Thr446=)
c.1087A= (p.Thr363=)
2g.219425731A>CCA350698752DESn.831A>C
n.745A>C
c.1357A>C (p.Thr453Pro)
n.212A>C
c.1354A>C (p.Thr452Pro)
c.925A>C (p.Thr309Pro)
c.1288A>C (p.Thr430Pro)
c.1336A>C (p.Thr446Pro)
c.1087A>C (p.Thr363Pro)
2g.219425731A>GCA350698754DESn.831A>G
n.745A>G
c.1357A>G (p.Thr453Ala)
n.212A>G
c.1354A>G (p.Thr452Ala)
c.925A>G (p.Thr309Ala)
c.1288A>G (p.Thr430Ala)
c.1336A>G (p.Thr446Ala)
c.1087A>G (p.Thr363Ala)
dbSNP
2g.219425731A>TCA350698756DESn.831A>T
n.745A>T
c.1357A>T (p.Thr453Ser)
n.212A>T
c.1354A>T (p.Thr452Ser)
c.925A>T (p.Thr309Ser)
c.1288A>T (p.Thr430Ser)
c.1336A>T (p.Thr446Ser)
c.1087A>T (p.Thr363Ser)
2g.219425732C>ACA350698757DESn.832C>A
n.746C>A
c.1358C>A (p.Thr453Lys)
n.213C>A
c.1355C>A (p.Thr452Lys)
c.926C>A (p.Thr309Lys)
c.1289C>A (p.Thr430Lys)
c.1337C>A (p.Thr446Lys)
c.1088C>A (p.Thr363Lys)
2g.219425732C=CA1329213134DESn.832C=
n.746C=
c.1358C= (p.Thr453=)
n.213C=
c.1355C= (p.Thr452=)
c.926C= (p.Thr309=)
c.1289C= (p.Thr430=)
c.1337C= (p.Thr446=)
c.1088C= (p.Thr363=)
2g.219425732C>GCA350698762DESn.832C>G
n.746C>G
c.1358C>G (p.Thr453Arg)
n.213C>G
c.1355C>G (p.Thr452Arg)
c.926C>G (p.Thr309Arg)
c.1289C>G (p.Thr430Arg)
c.1337C>G (p.Thr446Arg)
c.1088C>G (p.Thr363Arg)

Number of alleles fetched