Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.863097_863185dup | CA992459305 | CFD | c.642_730dup (p.Ile244ThrfsTer?) c.504_592dup (p.Ile198ThrfsTer?) c.570_658dup (p.Ile220ThrfsTer?) c.258+1141_258+1229dup (n.258+1141_258+1229dup) c.621_709dup (p.Ile237ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.863099_863117delinsCCGGGGGCCCGCTGGTGTG | CA2317366619 | CFD | c.644_662delinsCCGGGGGCCCGCTGGTGTG (p.Ser215=) c.506_524delinsCCGGGGGCCCGCTGGTGTG (p.Ser169=) c.572_590delinsCCGGGGGCCCGCTGGTGTG (p.Ser191=) c.258+1143_258+1161delinsCCGGGGGCCCGCTGGTGTG (n.258+1143_258+1161delinsCCGGGGGCCCGCTGGTGTG) c.623_641delinsCCGGGGGCCCGCTGGTGTG (p.Ser208=) | |
19 | g.863107_863124del | CA913046785 | CFD | c.652_669del (p.Pro218_Gly223del) c.514_531del (p.Pro172_Gly177del) c.580_597del (p.Pro194_Gly199del) c.258+1151_258+1168del (n.258+1151_258+1168del) c.631_648del (p.Pro211_Gly216del) | dbSNP |
19 | g.863114_863123del | CA2587806971 | CFD | c.659_668del (p.Val220AlafsTer?) c.521_530del (p.Val174AlafsTer?) c.587_596del (p.Val196AlafsTer?) c.258+1158_258+1167del (n.258+1158_258+1167del) c.638_647del (p.Val213AlafsTer?) | gnomAD v4 |
19 | g.863116_863127dup | CA303955730 | CFD | c.661_672dup (p.Val224_Leu225insCysGlyGlyVal) c.523_534dup (p.Val178_Leu179insCysGlyGlyVal) c.589_600dup (p.Val200_Leu201insCysGlyGlyVal) c.258+1160_258+1171dup (n.258+1160_258+1171dup) c.640_651dup (p.Val217_Leu218insCysGlyGlyVal) | dbSNP gnomAD v4 |
19 | g.863114T>A | CA402923540 | CFD | c.659T>A (p.Val220Glu) c.521T>A (p.Val174Glu) c.587T>A (p.Val196Glu) c.258+1158T>A (n.258+1158T>A) c.638T>A (p.Val213Glu) | |
19 | g.863114T>C | CA402923544 | CFD | c.659T>C (p.Val220Ala) c.521T>C (p.Val174Ala) c.587T>C (p.Val196Ala) c.258+1158T>C (n.258+1158T>C) c.638T>C (p.Val213Ala) | gnomAD v4 |
19 | g.863114T>G | CA351460 | CFD | c.659T>G (p.Val220Gly) c.521T>G (p.Val174Gly) c.587T>G (p.Val196Gly) c.258+1158T>G (n.258+1158T>G) c.638T>G (p.Val213Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.[863114T>G;863116T>C] | CA351464 | CFD | c.[659T>G;661T>C] (p.[Val220Gly;Cys221Arg]) c.[521T>G;523T>C] (p.[Val174Gly;Cys175Arg]) c.[587T>G;589T>C] (p.[Val196Gly;Cys197Arg]) c.[258+1158T>G;258+1160T>C] (n.[258+1158T>G;258+1160T>C]) c.[638T>G;640T>C] (p.[Val213Gly;Cys214Arg]) | ClinVar |
19 | g.863114T= | CA2317366632 | CFD | c.659T= (p.Val220=) c.521T= (p.Val174=) c.587T= (p.Val196=) c.258+1158T= (n.258+1158T=) c.638T= (p.Val213=) | |
19 | g.863114_863116delinsGGC | CA2695227829 | CFD | c.659_661delinsGGC (p.Val220_Cys221delinsGlyArg) c.521_523delinsGGC (p.Val174_Cys175delinsGlyArg) c.587_589delinsGGC (p.Val196_Cys197delinsGlyArg) c.258+1158_258+1160delinsGGC (n.258+1158_258+1160delinsGGC) c.638_640delinsGGC (p.Val213_Cys214delinsGlyArg) | |
19 | g.863115G>A | CA504688666 | CFD | c.660G>A (p.Val220=) c.522G>A (p.Val174=) c.588G>A (p.Val196=) c.258+1159G>A (n.258+1159G>A) c.639G>A (p.Val213=) | |
19 | g.863115G>C | CA504688668 | CFD | c.660G>C (p.Val220=) c.522G>C (p.Val174=) c.588G>C (p.Val196=) c.258+1159G>C (n.258+1159G>C) c.639G>C (p.Val213=) | gnomAD v4 |
19 | g.863115G>T | CA504688671 | CFD | c.660G>T (p.Val220=) c.522G>T (p.Val174=) c.588G>T (p.Val196=) c.258+1159G>T (n.258+1159G>T) c.639G>T (p.Val213=) | gnomAD v4 |
19 | g.863116T>A | CA402923547 | CFD | c.661T>A (p.Cys221Ser) c.523T>A (p.Cys175Ser) c.589T>A (p.Cys197Ser) c.258+1160T>A (n.258+1160T>A) c.640T>A (p.Cys214Ser) | |
19 | g.863116T>C | CA351462 | CFD | c.661T>C (p.Cys221Arg) c.523T>C (p.Cys175Arg) c.589T>C (p.Cys197Arg) c.258+1160T>C (n.258+1160T>C) c.640T>C (p.Cys214Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.863116T>G | CA402923550 | CFD | c.661T>G (p.Cys221Gly) c.523T>G (p.Cys175Gly) c.589T>G (p.Cys197Gly) c.258+1160T>G (n.258+1160T>G) c.640T>G (p.Cys214Gly) | gnomAD v4 |
19 | g.863116T= | CA2317366633 | CFD | c.661T= (p.Cys221=) c.523T= (p.Cys175=) c.589T= (p.Cys197=) c.258+1160T= (n.258+1160T=) c.640T= (p.Cys214=) | |
19 | g.863117G>A | CA402923552 | CFD | c.662G>A (p.Cys221Tyr) c.524G>A (p.Cys175Tyr) c.590G>A (p.Cys197Tyr) c.258+1161G>A (n.258+1161G>A) c.641G>A (p.Cys214Tyr) | dbSNP gnomAD v2 |
19 | g.863117G>C | CA402923555 | CFD | c.662G>C (p.Cys221Ser) c.524G>C (p.Cys175Ser) c.590G>C (p.Cys197Ser) c.258+1161G>C (n.258+1161G>C) c.641G>C (p.Cys214Ser) | |
19 | g.863117G= | CA2317366634 | CFD | c.662G= (p.Cys221=) c.524G= (p.Cys175=) c.590G= (p.Cys197=) c.258+1161G= (n.258+1161G=) c.641G= (p.Cys214=) | |
19 | g.863117G>T | CA402923557 | CFD | c.662G>T (p.Cys221Phe) c.524G>T (p.Cys175Phe) c.590G>T (p.Cys197Phe) c.258+1161G>T (n.258+1161G>T) c.641G>T (p.Cys214Phe) | gnomAD v4 |
19 | g.863118C>A | CA402923559 | CFD | c.663C>A (p.Cys221Ter) c.525C>A (p.Cys175Ter) c.591C>A (p.Cys197Ter) c.258+1162C>A (n.258+1162C>A) c.642C>A (p.Cys214Ter) | gnomAD v4 |
19 | g.863118C= | CA2317366635 | CFD | c.663C= (p.Cys221=) c.525C= (p.Cys175=) c.591C= (p.Cys197=) c.258+1162C= (n.258+1162C=) c.642C= (p.Cys214=) | |
19 | g.863118C>G | CA402923561 | CFD | c.663C>G (p.Cys221Trp) c.525C>G (p.Cys175Trp) c.591C>G (p.Cys197Trp) c.258+1162C>G (n.258+1162C>G) c.642C>G (p.Cys214Trp) | |
19 | g.863118C>T | CA9026442 | CFD | c.663C>T (p.Cys221=) c.525C>T (p.Cys175=) c.591C>T (p.Cys197=) c.258+1162C>T (n.258+1162C>T) c.642C>T (p.Cys214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.863120_863131del | CA2587806972 | CFD | c.665_676del (p.Gly222_Leu225del) c.527_538del (p.Gly176_Leu179del) c.593_604del (p.Gly198_Leu201del) c.258+1164_258+1175del (n.258+1164_258+1175del) c.644_655del (p.Gly215_Leu218del) | gnomAD v4 |
19 | g.863119G>A | CA303955732 | CFD | c.664G>A (p.Gly222Arg) c.526G>A (p.Gly176Arg) c.592G>A (p.Gly198Arg) c.258+1163G>A (n.258+1163G>A) c.643G>A (p.Gly215Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.863119G>C | CA402923564 | CFD | c.664G>C (p.Gly222Arg) c.526G>C (p.Gly176Arg) c.592G>C (p.Gly198Arg) c.258+1163G>C (n.258+1163G>C) c.643G>C (p.Gly215Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.863119G= | CA2317366636 | CFD | c.664G= (p.Gly222=) c.526G= (p.Gly176=) c.592G= (p.Gly198=) c.258+1163G= (n.258+1163G=) c.643G= (p.Gly215=) | |
19 | g.863119G>T | CA402923567 | CFD | c.664G>T (p.Gly222Trp) c.526G>T (p.Gly176Trp) c.592G>T (p.Gly198Trp) c.258+1163G>T (n.258+1163G>T) c.643G>T (p.Gly215Trp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.863123dup | CA2317366637 | CFD | c.668dup (p.Val224ArgfsTer?) c.530dup (p.Val178ArgfsTer?) c.596dup (p.Val200ArgfsTer?) c.258+1167dup (n.258+1167dup) c.647dup (p.Val217ArgfsTer?) | dbSNP gnomAD v4 |
19 | g.863123del | CA2576540711 | CFD | c.668del (p.Gly223AlafsTer?) c.530del (p.Gly177AlafsTer?) c.596del (p.Gly199AlafsTer?) c.258+1167del (n.258+1167del) c.647del (p.Gly216AlafsTer?) | gnomAD v4 |
19 | g.863122_863123del | CA2587806973 | CFD | c.667_668del (p.Gly223ArgfsTer?) c.529_530del (p.Gly177ArgfsTer?) c.595_596del (p.Gly199ArgfsTer?) c.258+1166_258+1167del (n.258+1166_258+1167del) c.646_647del (p.Gly216ArgfsTer?) | gnomAD v4 |
19 | g.863120G>A | CA402923577 | CFD | c.665G>A (p.Gly222Glu) c.527G>A (p.Gly176Glu) c.593G>A (p.Gly198Glu) c.258+1164G>A (n.258+1164G>A) c.644G>A (p.Gly215Glu) | gnomAD v4 |
19 | g.863120G>C | CA402923572 | CFD | c.665G>C (p.Gly222Ala) c.527G>C (p.Gly176Ala) c.593G>C (p.Gly198Ala) c.258+1164G>C (n.258+1164G>C) c.644G>C (p.Gly215Ala) | |
19 | g.863120G>T | CA402923569 | CFD | c.665G>T (p.Gly222Val) c.527G>T (p.Gly176Val) c.593G>T (p.Gly198Val) c.258+1164G>T (n.258+1164G>T) c.644G>T (p.Gly215Val) | gnomAD v4 |
19 | g.863121G>A | CA504688677 | CFD | c.666G>A (p.Gly222=) c.528G>A (p.Gly176=) c.594G>A (p.Gly198=) c.258+1165G>A (n.258+1165G>A) c.645G>A (p.Gly215=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.863121G>C | CA504688678 | CFD | c.666G>C (p.Gly222=) c.528G>C (p.Gly176=) c.594G>C (p.Gly198=) c.258+1165G>C (n.258+1165G>C) c.645G>C (p.Gly215=) | |
19 | g.863121G= | CA2317366638 | CFD | c.666G= (p.Gly222=) c.528G= (p.Gly176=) c.594G= (p.Gly198=) c.258+1165G= (n.258+1165G=) c.645G= (p.Gly215=) | |
19 | g.863121G>T | CA504688679 | CFD | c.666G>T (p.Gly222=) c.528G>T (p.Gly176=) c.594G>T (p.Gly198=) c.258+1165G>T (n.258+1165G>T) c.645G>T (p.Gly215=) | gnomAD v4 |
19 | g.863128_863139del | CA2587806974 | CFD | c.673_684del (p.Leu225_Val228del) c.535_546del (p.Leu179_Val182del) c.601_612del (p.Leu201_Val204del) c.258+1172_258+1183del (n.258+1172_258+1183del) c.652_663del (p.Leu218_Val221del) | gnomAD v4 |
19 | g.863122G>A | CA402923582 | CFD | c.667G>A (p.Gly223Ser) c.529G>A (p.Gly177Ser) c.595G>A (p.Gly199Ser) c.258+1166G>A (n.258+1166G>A) c.646G>A (p.Gly216Ser) | gnomAD v4 |
19 | g.863122G>C | CA402923584 | CFD | c.667G>C (p.Gly223Arg) c.529G>C (p.Gly177Arg) c.595G>C (p.Gly199Arg) c.258+1166G>C (n.258+1166G>C) c.646G>C (p.Gly216Arg) | |
19 | g.863122G= | CA2317366639 | CFD | c.667G= (p.Gly223=) c.529G= (p.Gly177=) c.595G= (p.Gly199=) c.258+1166G= (n.258+1166G=) c.646G= (p.Gly216=) | |
19 | g.863122G>T | CA402923587 | CFD | c.667G>T (p.Gly223Cys) c.529G>T (p.Gly177Cys) c.595G>T (p.Gly199Cys) c.258+1166G>T (n.258+1166G>T) c.646G>T (p.Gly216Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.863123G>A | CA303955743 | CFD | c.668G>A (p.Gly223Asp) c.530G>A (p.Gly177Asp) c.596G>A (p.Gly199Asp) c.258+1167G>A (n.258+1167G>A) c.647G>A (p.Gly216Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.863123G>C | CA303955752 | CFD | c.668G>C (p.Gly223Ala) c.530G>C (p.Gly177Ala) c.596G>C (p.Gly199Ala) c.258+1167G>C (n.258+1167G>C) c.647G>C (p.Gly216Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.863123G= | CA2317366640 | CFD | c.668G= (p.Gly223=) c.530G= (p.Gly177=) c.596G= (p.Gly199=) c.258+1167G= (n.258+1167G=) c.647G= (p.Gly216=) | |
19 | g.863123G>T | CA402923592 | CFD | c.668G>T (p.Gly223Val) c.530G>T (p.Gly177Val) c.596G>T (p.Gly199Val) c.258+1167G>T (n.258+1167G>T) c.647G>T (p.Gly216Val) | gnomAD v4 |