Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219421482A= | CA1329211314 | DES | n.640A= n.554A= c.1166A= (p.Gln389=) n.638A= n.561A= c.1163A= (p.Gln388=) c.736-2A= (n.736-2A=) c.1097A= (p.Gln366=) c.1145A= (p.Gln382=) c.896A= (p.Gln299=) | |
2 | g.219421482A>C | CA217025 | DES | n.640A>C n.554A>C c.1166A>C (p.Gln389Pro) n.638A>C n.561A>C c.1163A>C (p.Gln388Pro) c.736-2A>C (n.736-2A>C) c.1097A>C (p.Gln366Pro) c.1145A>C (p.Gln382Pro) c.896A>C (p.Gln299Pro) | ClinVar dbSNP |
2 | g.219421482A>G | CA350694726 | DES | n.640A>G n.554A>G c.1166A>G (p.Gln389Arg) n.638A>G n.561A>G c.1163A>G (p.Gln388Arg) c.736-2A>G (n.736-2A>G) c.1097A>G (p.Gln366Arg) c.1145A>G (p.Gln382Arg) c.896A>G (p.Gln299Arg) | ClinVar gnomAD v4 |
2 | g.219421482A>T | CA350694729 | DES | n.640A>T n.554A>T c.1166A>T (p.Gln389Leu) n.638A>T n.561A>T c.1163A>T (p.Gln388Leu) c.736-2A>T (n.736-2A>T) c.1097A>T (p.Gln366Leu) c.1145A>T (p.Gln382Leu) c.896A>T (p.Gln299Leu) | |
2 | g.219421483G>A | CA431284457 | DES | n.641G>A n.555G>A c.1167G>A (p.Gln389=) n.639G>A n.562G>A c.1164G>A (p.Gln388=) c.736-1G>A (n.736-1G>A) c.1098G>A (p.Gln366=) c.1146G>A (p.Gln382=) c.897G>A (p.Gln299=) | |
2 | g.219421483G>C | CA350694734 | DES | n.641G>C n.555G>C c.1167G>C (p.Gln389His) n.639G>C n.562G>C c.1164G>C (p.Gln388His) c.736-1G>C (n.736-1G>C) c.1098G>C (p.Gln366His) c.1146G>C (p.Gln382His) c.897G>C (p.Gln299His) | |
2 | g.219421483G= | CA1329211315 | DES | n.641G= n.555G= c.1167G= (p.Gln389=) n.639G= n.562G= c.1164G= (p.Gln388=) c.736-1G= (n.736-1G=) c.1098G= (p.Gln366=) c.1146G= (p.Gln382=) c.897G= (p.Gln299=) | |
2 | g.219421483G>T | CA246640 | DES | n.641G>T n.555G>T c.1167G>T (p.Gln389His) n.639G>T n.562G>T c.1164G>T (p.Gln388His) c.736-1G>T (n.736-1G>T) c.1098G>T (p.Gln366His) c.1146G>T (p.Gln382His) c.897G>T (p.Gln299His) | ClinVar dbSNP |
2 | g.219421484G>A | CA350694739 | DES | n.642G>A n.556G>A c.1168G>A (p.Asp390Asn) n.640G>A n.563G>A c.1165G>A (p.Asp389Asn) c.736G>A (p.Asp246Asn) c.1099G>A (p.Asp367Asn) c.1147G>A (p.Asp383Asn) c.898G>A (p.Asp300Asn) | |
2 | g.219421484G>C | CA350694742 | DES | n.642G>C n.556G>C c.1168G>C (p.Asp390His) n.640G>C n.563G>C c.1165G>C (p.Asp389His) c.736G>C (p.Asp246His) c.1099G>C (p.Asp367His) c.1147G>C (p.Asp383His) c.898G>C (p.Asp300His) | |
2 | g.219421484G>T | CA350694745 | DES | n.642G>T n.556G>T c.1168G>T (p.Asp390Tyr) n.640G>T n.563G>T c.1165G>T (p.Asp389Tyr) c.736G>T (p.Asp246Tyr) c.1099G>T (p.Asp367Tyr) c.1147G>T (p.Asp383Tyr) c.898G>T (p.Asp300Tyr) | |
2 | g.219421485A>C | CA350694749 | DES | n.643A>C n.557A>C c.1169A>C (p.Asp390Ala) n.641A>C n.564A>C c.1166A>C (p.Asp389Ala) c.737A>C (p.Asp246Ala) c.1100A>C (p.Asp367Ala) c.1148A>C (p.Asp383Ala) c.899A>C (p.Asp300Ala) | |
2 | g.219421485A>G | CA350694752 | DES | n.643A>G n.557A>G c.1169A>G (p.Asp390Gly) n.641A>G n.564A>G c.1166A>G (p.Asp389Gly) c.737A>G (p.Asp246Gly) c.1100A>G (p.Asp367Gly) c.1148A>G (p.Asp383Gly) c.899A>G (p.Asp300Gly) | |
2 | g.219421485A>T | CA350694755 | DES | n.643A>T n.557A>T c.1169A>T (p.Asp390Val) n.641A>T n.564A>T c.1166A>T (p.Asp389Val) c.737A>T (p.Asp246Val) c.1100A>T (p.Asp367Val) c.1148A>T (p.Asp383Val) c.899A>T (p.Asp300Val) | |
2 | g.219421486C>A | CA350694761 | DES | n.644C>A n.558C>A c.1170C>A (p.Asp390Glu) n.642C>A n.565C>A c.1167C>A (p.Asp389Glu) c.738C>A (p.Asp246Glu) c.1101C>A (p.Asp367Glu) c.1149C>A (p.Asp383Glu) c.900C>A (p.Asp300Glu) | |
2 | g.219421486C= | CA1329211316 | DES | n.644C= n.558C= c.1170C= (p.Asp390=) n.642C= n.565C= c.1167C= (p.Asp389=) c.738C= (p.Asp246=) c.1101C= (p.Asp367=) c.1149C= (p.Asp383=) c.900C= (p.Asp300=) | |
2 | g.219421486C>G | CA350694759 | DES | n.644C>G n.558C>G c.1170C>G (p.Asp390Glu) n.642C>G n.565C>G c.1167C>G (p.Asp389Glu) c.738C>G (p.Asp246Glu) c.1101C>G (p.Asp367Glu) c.1149C>G (p.Asp383Glu) c.900C>G (p.Asp300Glu) | |
2 | g.219421486C>T | CA431284464 | DES | n.644C>T n.558C>T c.1170C>T (p.Asp390=) n.642C>T n.565C>T c.1167C>T (p.Asp389=) c.738C>T (p.Asp246=) c.1101C>T (p.Asp367=) c.1149C>T (p.Asp383=) c.900C>T (p.Asp300=) | dbSNP gnomAD v4 |
2 | g.219421487del | CA2580065864 | DES | n.645del n.559del c.1171del (p.Leu391CysfsTer4) n.643del n.566del c.1168del (p.Leu390CysfsTer4) c.739del (p.Leu247CysfsTer4) c.1102del (p.Leu368CysfsTer4) c.1150del (p.Leu384CysfsTer4) c.901del (p.Leu301CysfsTer4) | ClinVar |
2 | g.219421487C>A | CA350694764 | DES | n.645C>A n.559C>A c.1171C>A (p.Leu391Met) n.643C>A n.566C>A c.1168C>A (p.Leu390Met) c.739C>A (p.Leu247Met) c.1102C>A (p.Leu368Met) c.1150C>A (p.Leu384Met) c.901C>A (p.Leu301Met) | |
2 | g.219421487C>G | CA350694766 | DES | n.645C>G n.559C>G c.1171C>G (p.Leu391Val) n.643C>G n.566C>G c.1168C>G (p.Leu390Val) c.739C>G (p.Leu247Val) c.1102C>G (p.Leu368Val) c.1150C>G (p.Leu384Val) c.901C>G (p.Leu301Val) | |
2 | g.219421487C>T | CA431284465 | DES | n.645C>T n.559C>T c.1171C>T (p.Leu391=) n.643C>T n.566C>T c.1168C>T (p.Leu390=) c.739C>T (p.Leu247=) c.1102C>T (p.Leu368=) c.1150C>T (p.Leu384=) c.901C>T (p.Leu301=) | |
2 | g.219421488T>A | CA350694769 | DES | n.646T>A n.560T>A c.1172T>A (p.Leu391Gln) n.644T>A n.567T>A c.1169T>A (p.Leu390Gln) c.740T>A (p.Leu247Gln) c.1103T>A (p.Leu368Gln) c.1151T>A (p.Leu384Gln) c.902T>A (p.Leu301Gln) | |
2 | g.219421488T>C | CA350694771 | DES | n.646T>C n.560T>C c.1172T>C (p.Leu391Pro) n.644T>C n.567T>C c.1169T>C (p.Leu390Pro) c.740T>C (p.Leu247Pro) c.1103T>C (p.Leu368Pro) c.1151T>C (p.Leu384Pro) c.902T>C (p.Leu301Pro) | ClinVar dbSNP |
2 | g.219421488T>G | CA350694775 | DES | n.646T>G n.560T>G c.1172T>G (p.Leu391Arg) n.644T>G n.567T>G c.1169T>G (p.Leu390Arg) c.740T>G (p.Leu247Arg) c.1103T>G (p.Leu368Arg) c.1151T>G (p.Leu384Arg) c.902T>G (p.Leu301Arg) | ClinVar dbSNP |
2 | g.219421488T= | CA1329211317 | DES | n.646T= n.560T= c.1172T= (p.Leu391=) n.644T= n.567T= c.1169T= (p.Leu390=) c.740T= (p.Leu247=) c.1103T= (p.Leu368=) c.1151T= (p.Leu384=) c.902T= (p.Leu301=) | |
2 | g.219421489G>A | CA2125251 | DES | n.647G>A n.561G>A c.1173G>A (p.Leu391=) n.645G>A n.568G>A c.1170G>A (p.Leu390=) c.741G>A (p.Leu247=) c.1104G>A (p.Leu368=) c.1152G>A (p.Leu384=) c.903G>A (p.Leu301=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219421489G>C | CA431284466 | DES | n.647G>C n.561G>C c.1173G>C (p.Leu391=) n.645G>C n.568G>C c.1170G>C (p.Leu390=) c.741G>C (p.Leu247=) c.1104G>C (p.Leu368=) c.1152G>C (p.Leu384=) c.903G>C (p.Leu301=) | |
2 | g.219421489G= | CA1329211318 | DES | n.647G= n.561G= c.1173G= (p.Leu391=) n.645G= n.568G= c.1170G= (p.Leu390=) c.741G= (p.Leu247=) c.1104G= (p.Leu368=) c.1152G= (p.Leu384=) c.903G= (p.Leu301=) | |
2 | g.219421489G>T | CA431284467 | DES | n.647G>T n.561G>T c.1173G>T (p.Leu391=) n.645G>T n.568G>T c.1170G>T (p.Leu390=) c.741G>T (p.Leu247=) c.1104G>T (p.Leu368=) c.1152G>T (p.Leu384=) c.903G>T (p.Leu301=) | |
2 | g.219421489_219421490dup | CA2539756905 | DES | n.647_648dup n.561_562dup c.1173_1174dup (p.Leu392ArgfsTer4) n.645_646dup n.568_569dup c.1170_1171dup (p.Leu391ArgfsTer4) c.741_742dup (p.Leu248ArgfsTer4) c.1104_1105dup (p.Leu369ArgfsTer4) c.1152_1153dup (p.Leu385ArgfsTer4) c.903_904dup (p.Leu302ArgfsTer4) | |
2 | g.219421490C>A | CA350694779 | DES | n.648C>A n.562C>A c.1174C>A (p.Leu392Ile) n.646C>A n.569C>A c.1171C>A (p.Leu391Ile) c.742C>A (p.Leu248Ile) c.1105C>A (p.Leu369Ile) c.1153C>A (p.Leu385Ile) c.904C>A (p.Leu302Ile) | |
2 | g.219421490C>G | CA350694781 | DES | n.648C>G n.562C>G c.1174C>G (p.Leu392Val) n.646C>G n.569C>G c.1171C>G (p.Leu391Val) c.742C>G (p.Leu248Val) c.1105C>G (p.Leu369Val) c.1153C>G (p.Leu385Val) c.904C>G (p.Leu302Val) | |
2 | g.219421490C>T | CA350694784 | DES | n.648C>T n.562C>T c.1174C>T (p.Leu392Phe) n.646C>T n.569C>T c.1171C>T (p.Leu391Phe) c.742C>T (p.Leu248Phe) c.1105C>T (p.Leu369Phe) c.1153C>T (p.Leu385Phe) c.904C>T (p.Leu302Phe) | |
2 | g.219421490_219421491insGCT | CA2511289613 | DES | n.648_649insGCT n.562_563insGCT c.1174_1175insGCT (p.Leu392delinsArgPhe) n.646_647insGCT n.569_570insGCT c.1171_1172insGCT (p.Leu391delinsArgPhe) c.742_743insGCT (p.Leu248delinsArgPhe) c.1105_1106insGCT (p.Leu369delinsArgPhe) c.1153_1154insGCT (p.Leu385delinsArgPhe) c.904_905insGCT (p.Leu302delinsArgPhe) | |
2 | g.219421491T>A | CA350694788 | DES | n.649T>A n.563T>A c.1175T>A (p.Leu392His) n.647T>A n.570T>A c.1172T>A (p.Leu391His) c.743T>A (p.Leu248His) c.1106T>A (p.Leu369His) c.1154T>A (p.Leu385His) c.905T>A (p.Leu302His) | |
2 | g.219421491T>C | CA217027 | DES | n.649T>C n.563T>C c.1175T>C (p.Leu392Pro) n.647T>C n.570T>C c.1172T>C (p.Leu391Pro) c.743T>C (p.Leu248Pro) c.1106T>C (p.Leu369Pro) c.1154T>C (p.Leu385Pro) c.905T>C (p.Leu302Pro) | ClinVar dbSNP |
2 | g.219421491T>G | CA350694793 | DES | n.649T>G n.563T>G c.1175T>G (p.Leu392Arg) n.647T>G n.570T>G c.1172T>G (p.Leu391Arg) c.743T>G (p.Leu248Arg) c.1106T>G (p.Leu369Arg) c.1154T>G (p.Leu385Arg) c.905T>G (p.Leu302Arg) | |
2 | g.219421491T= | CA1329211319 | DES | n.649T= n.563T= c.1175T= (p.Leu392=) n.647T= n.570T= c.1172T= (p.Leu391=) c.743T= (p.Leu248=) c.1106T= (p.Leu369=) c.1154T= (p.Leu385=) c.905T= (p.Leu302=) | |
2 | g.219421491_219421492insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA | CA2560026055 | DES | n.649_650insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA n.563_564insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn393ArgfsTer?) n.647_648insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA n.570_571insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA c.1172_1173insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn392ArgfsTer?) c.743_744insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn249ArgfsTer?) c.1106_1107insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn370ArgfsTer?) c.1154_1155insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn386ArgfsTer?) c.905_906insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn303ArgfsTer?) | |
2 | g.219421492C>A | CA431284468 | DES | n.650C>A n.564C>A c.1176C>A (p.Leu392=) n.648C>A n.571C>A c.1173C>A (p.Leu391=) c.744C>A (p.Leu248=) c.1107C>A (p.Leu369=) c.1155C>A (p.Leu385=) c.906C>A (p.Leu302=) | |
2 | g.219421492C= | CA1329211320 | DES | n.650C= n.564C= c.1176C= (p.Leu392=) n.648C= n.571C= c.1173C= (p.Leu391=) c.744C= (p.Leu248=) c.1107C= (p.Leu369=) c.1155C= (p.Leu385=) c.906C= (p.Leu302=) | |
2 | g.219421492C>G | CA431284469 | DES | n.650C>G n.564C>G c.1176C>G (p.Leu392=) n.648C>G n.571C>G c.1173C>G (p.Leu391=) c.744C>G (p.Leu248=) c.1107C>G (p.Leu369=) c.1155C>G (p.Leu385=) c.906C>G (p.Leu302=) | ClinVar dbSNP gnomAD v4 |
2 | g.219421492C>T | CA431284470 | DES | n.650C>T n.564C>T c.1176C>T (p.Leu392=) n.648C>T n.571C>T c.1173C>T (p.Leu391=) c.744C>T (p.Leu248=) c.1107C>T (p.Leu369=) c.1155C>T (p.Leu385=) c.906C>T (p.Leu302=) | gnomAD v3 gnomAD v4 |
2 | g.219421493A>C | CA350694801 | DES | n.651A>C n.565A>C c.1177A>C (p.Asn393His) n.649A>C n.572A>C c.1174A>C (p.Asn392His) c.745A>C (p.Asn249His) c.1108A>C (p.Asn370His) c.1156A>C (p.Asn386His) c.907A>C (p.Asn303His) | |
2 | g.219421493A>G | CA350694804 | DES | n.651A>G n.565A>G c.1177A>G (p.Asn393Asp) n.649A>G n.572A>G c.1174A>G (p.Asn392Asp) c.745A>G (p.Asn249Asp) c.1108A>G (p.Asn370Asp) c.1156A>G (p.Asn386Asp) c.907A>G (p.Asn303Asp) | gnomAD v4 |
2 | g.219421493A>T | CA350694798 | DES | n.651A>T n.565A>T c.1177A>T (p.Asn393Tyr) n.649A>T n.572A>T c.1174A>T (p.Asn392Tyr) c.745A>T (p.Asn249Tyr) c.1108A>T (p.Asn370Tyr) c.1156A>T (p.Asn386Tyr) c.907A>T (p.Asn303Tyr) | |
2 | g.219421494A= | CA1329211321 | DES | n.652A= n.566A= c.1178A= (p.Asn393=) n.650A= n.573A= c.1175A= (p.Asn392=) c.746A= (p.Asn249=) c.1109A= (p.Asn370=) c.1157A= (p.Asn386=) c.908A= (p.Asn303=) | |
2 | g.219421494A>C | CA350694808 | DES | n.652A>C n.566A>C c.1178A>C (p.Asn393Thr) n.650A>C n.573A>C c.1175A>C (p.Asn392Thr) c.746A>C (p.Asn249Thr) c.1109A>C (p.Asn370Thr) c.1157A>C (p.Asn386Thr) c.908A>C (p.Asn303Thr) | |
2 | g.219421494A>G | CA2125252 | DES | n.652A>G n.566A>G c.1178A>G (p.Asn393Ser) n.650A>G n.573A>G c.1175A>G (p.Asn392Ser) c.746A>G (p.Asn249Ser) c.1109A>G (p.Asn370Ser) c.1157A>G (p.Asn386Ser) c.908A>G (p.Asn303Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |