Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421482A=CA1329211314DESn.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=)
2g.219421482A>CCA217025DESn.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
2g.219421482A>GCA350694726DESn.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
2g.219421482A>TCA350694729DESn.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)
2g.219421483G>ACA431284457DESn.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=)
2g.219421483G>CCA350694734DESn.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)
2g.219421483G=CA1329211315DESn.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=)
2g.219421483G>TCA246640DESn.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
2g.219421484G>ACA350694739DESn.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)
2g.219421484G>CCA350694742DESn.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)
2g.219421484G>TCA350694745DESn.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)
2g.219421485A>CCA350694749DESn.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)
2g.219421485A>GCA350694752DESn.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)
2g.219421485A>TCA350694755DESn.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)
2g.219421486C>ACA350694761DESn.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)
2g.219421486C=CA1329211316DESn.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=)
2g.219421486C>GCA350694759DESn.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)
2g.219421486C>TCA431284464DESn.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
2g.219421487delCA2580065864DESn.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
2g.219421487C>ACA350694764DESn.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)
2g.219421487C>GCA350694766DESn.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)
2g.219421487C>TCA431284465DESn.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=)
2g.219421488T>ACA350694769DESn.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)
2g.219421488T>CCA350694771DESn.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
2g.219421488T>GCA350694775DESn.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
2g.219421488T=CA1329211317DESn.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=)
2g.219421489G>ACA2125251DESn.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
2g.219421489G>CCA431284466DESn.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=)
2g.219421489G=CA1329211318DESn.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=)
2g.219421489G>TCA431284467DESn.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=)
2g.219421489_219421490dupCA2539756905DESn.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)
2g.219421490C>ACA350694779DESn.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)
2g.219421490C>GCA350694781DESn.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)
2g.219421490C>TCA350694784DESn.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)
2g.219421490_219421491insGCTCA2511289613DESn.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)
2g.219421491T>ACA350694788DESn.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)
2g.219421491T>CCA217027DESn.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
2g.219421491T>GCA350694793DESn.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)
2g.219421491T=CA1329211319DESn.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=)
2g.219421491_219421492insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACA2560026055DESn.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?)
2g.219421492C>ACA431284468DESn.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=)
2g.219421492C=CA1329211320DESn.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=)
2g.219421492C>GCA431284469DESn.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
2g.219421492C>TCA431284470DESn.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
2g.219421493A>CCA350694801DESn.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)
2g.219421493A>GCA350694804DESn.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
2g.219421493A>TCA350694798DESn.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)
2g.219421494A=CA1329211321DESn.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=)
2g.219421494A>CCA350694808DESn.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)
2g.219421494A>GCA2125252DESn.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

Number of alleles fetched