Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219425715_219425724delinsGATCAAGACC | CA1329213124 | DES | n.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=) | |
2 | g.219425719_219425727del | CA16617482 | DES | n.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 |
2 | g.219425720del | CA2663252169 | DES | n.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 |
2 | g.219425720A= | CA1329213127 | DES | n.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=) | |
2 | g.219425720A>C | CA217038 | DES | n.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 |
2 | g.219425720A>G | CA350698669 | DES | n.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) | |
2 | g.219425720A>T | CA350698671 | DES | n.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) | |
2 | g.219425721G>A | CA431285593 | DES | n.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 |
2 | g.219425721G>C | CA350698675 | DES | n.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) | |
2 | g.219425721G>T | CA350698678 | DES | n.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 |
2 | g.219425722A>C | CA350698683 | DES | n.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) | |
2 | g.219425722A>G | CA350698686 | DES | n.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) | |
2 | g.219425722A>T | CA350698688 | DES | n.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) | |
2 | g.219425723C>A | CA350698693 | DES | n.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 |
2 | g.219425723C= | CA1329213128 | DES | n.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=) | |
2 | g.219425723C>G | CA350698695 | DES | n.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) | |
2 | g.219425723C>T | CA350698697 | DES | n.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) | |
2 | g.219425724C>A | CA431285594 | DES | n.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 |
2 | g.219425724C= | CA1329213129 | DES | n.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=) | |
2 | g.219425724C>G | CA431285595 | DES | n.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 |
2 | g.219425724C>T | CA431285596 | DES | n.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=) | |
2 | g.219425725A>C | CA350698708 | DES | n.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) | |
2 | g.219425725A>G | CA350698704 | DES | n.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 |
2 | g.219425725A>T | CA350698701 | DES | n.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) | |
2 | g.219425726T>A | CA350698710 | DES | n.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 |
2 | g.219425726T>C | CA350698715 | DES | n.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) | |
2 | g.219425726T>G | CA350698712 | DES | n.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) | |
2 | g.219425726_219425731delinsTCGAGA | CA1329213130 | DES | n.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=) | |
2 | g.219425727C>A | CA431285597 | DES | n.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 |
2 | g.219425727C= | CA1329213131 | DES | n.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=) | |
2 | g.219425727C>G | CA257644 | DES | n.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 |
2 | g.219425727C>T | CA2125305 | DES | n.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 |
2 | g.219425728_219425732del | CA16610722 | DES | n.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 |
2 | g.219425728G>A | CA350698725 | DES | n.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 |
2 | g.219425728G>C | CA350698728 | DES | n.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) | |
2 | g.219425728G= | CA1329213132 | DES | n.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=) | |
2 | g.219425728G>T | CA350698732 | DES | n.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 |
2 | g.219425729A>C | CA350698736 | DES | n.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) | |
2 | g.219425729A>G | CA350698740 | DES | n.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) | |
2 | g.219425729A>T | CA350698743 | DES | n.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 |
2 | g.219425730G>A | CA431285598 | DES | n.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 |
2 | g.219425730G>C | CA350698745 | DES | n.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) | |
2 | g.219425730G>T | CA350698748 | DES | n.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 |
2 | g.219425731A= | CA1329213133 | DES | n.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=) | |
2 | g.219425731A>C | CA350698752 | DES | n.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) | |
2 | g.219425731A>G | CA350698754 | DES | n.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 |
2 | g.219425731A>T | CA350698756 | DES | n.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) | |
2 | g.219425732C>A | CA350698757 | DES | n.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) | |
2 | g.219425732C= | CA1329213134 | DES | n.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=) | |
2 | g.219425732C>G | CA350698762 | DES | n.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) |