Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
9 | g.127825693_127825861delinsACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGC | CA1879975624 | ENG | c.-23-1_143+2delinsGCCCAGGGGTCACTGTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGCCGCGTACTCCAGCCTTGGTCCGGGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATCCTGAGGGTCCTGCCGGGCCACTCGGCCGGGT c.524-1_689+2delinsGCCCAGGGGTCACTGTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGCCGCGTACTCCAGCCTTGGTCCGGGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATCCTGAGGGTCCTGCCGGGCCACTCGGCCGGGT n.82+235_82+403delinsACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGC | |
9 | g.127825694_127825861del | CA1139661213 | ENG | c.-23-1_143+1del c.524-1_689+1del n.82+236_82+403del | ClinVar dbSNP |
9 | g.127825735_127825754del | CA2580079680 | ENG | c.89_108del (p.Val30AlafsTer?) c.635_654del (p.Val212AlafsTer?) n.82+277_82+296del | ClinVar |
9 | g.127825750C>A | CA374983588 | ENG | c.88G>T (p.Val30Leu) c.634G>T (p.Val212Leu) n.82+292C>A | |
9 | g.127825750C= | CA1879975900 | ENG | c.88G= (p.Val30=) c.634G= (p.Val212=) n.82+292C= | |
9 | g.127825750C>G | CA374983589 | ENG | c.88G>C (p.Val30Leu) c.634G>C (p.Val212Leu) n.82+292C>G | dbSNP |
9 | g.127825750C>T | CA5253065 | ENG | c.88G>A (p.Val30Met) c.634G>A (p.Val212Met) n.82+292C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825751G>A | CA200314049 | ENG | c.87C>T (p.Gly29=) c.633C>T (p.Gly211=) n.82+293G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825751G>C | CA467231244 | ENG | c.87C>G (p.Gly29=) c.633C>G (p.Gly211=) n.82+293G>C | |
9 | g.127825751G= | CA1879975903 | ENG | c.87C= (p.Gly29=) c.633C= (p.Gly211=) n.82+293G= | |
9 | g.127825751G>T | CA467231243 | ENG | c.87C>A (p.Gly29=) c.633C>A (p.Gly211=) n.82+293G>T | gnomAD v4 |
9 | g.127825752C>A | CA374983590 | ENG | c.86G>T (p.Gly29Val) c.632G>T (p.Gly211Val) n.82+294C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825752C= | CA1879975910 | ENG | c.86G= (p.Gly29=) c.632G= (p.Gly211=) n.82+294C= | |
9 | g.127825752C>G | CA374983591 | ENG | c.86G>C (p.Gly29Ala) c.632G>C (p.Gly211Ala) n.82+294C>G | |
9 | g.127825752C>T | CA374983592 | ENG | c.86G>A (p.Gly29Asp) c.632G>A (p.Gly211Asp) n.82+294C>T | |
9 | g.127825753C>A | CA374983593 | ENG | c.85G>T (p.Gly29Cys) c.631G>T (p.Gly211Cys) n.82+295C>A | gnomAD v4 |
9 | g.127825753C>G | CA374983594 | ENG | c.85G>C (p.Gly29Arg) c.631G>C (p.Gly211Arg) n.82+295C>G | |
9 | g.127825753C>T | CA374983595 | ENG | c.85G>A (p.Gly29Ser) c.631G>A (p.Gly211Ser) n.82+295C>T | |
9 | g.127825754T>A | CA374983596 | ENG | c.84A>T (p.Glu28Asp) c.630A>T (p.Glu210Asp) n.82+296T>A | |
9 | g.127825754T>C | CA467231249 | ENG | c.84A>G (p.Glu28=) c.630A>G (p.Glu210=) n.82+296T>C | |
9 | g.127825754T>G | CA374983597 | ENG | c.84A>C (p.Glu28Asp) c.630A>C (p.Glu210Asp) n.82+296T>G | |
9 | g.127825755T>A | CA374983600 | ENG | c.83A>T (p.Glu28Val) c.629A>T (p.Glu210Val) n.82+297T>A | |
9 | g.127825755T>C | CA374983599 | ENG | c.83A>G (p.Glu28Gly) c.629A>G (p.Glu210Gly) n.82+297T>C | gnomAD v4 |
9 | g.127825755T>G | CA374983598 | ENG | c.83A>C (p.Glu28Ala) c.629A>C (p.Glu210Ala) n.82+297T>G | |
9 | g.127825756C>A | CA374983602 | ENG | c.82G>T (p.Glu28Ter) c.628G>T (p.Glu210Ter) n.82+298C>A | gnomAD v4 |
9 | g.127825756C= | CA1879975915 | ENG | c.82G= (p.Glu28=) c.628G= (p.Glu210=) n.82+298C= | |
9 | g.127825756C>G | CA200314050 | ENG | c.82G>C (p.Glu28Gln) c.628G>C (p.Glu210Gln) n.82+298C>G | dbSNP |
9 | g.127825756C>T | CA374983601 | ENG | c.82G>A (p.Glu28Lys) c.628G>A (p.Glu210Lys) n.82+298C>T | |
9 | g.127825761_127825778del | CA2695211306 | ENG | c.65_82del (p.Val22_Leu27del) c.611_628del (p.Val204_Leu209del) n.82+303_82+320del | |
9 | g.127825757C>A | CA374983603 | ENG | c.81G>T (p.Leu27Phe) c.627G>T (p.Leu209Phe) n.82+299C>A | gnomAD v4 |
9 | g.127825757C= | CA1879975923 | ENG | c.81G= (p.Leu27=) c.627G= (p.Leu209=) n.82+299C= | |
9 | g.127825757C>G | CA5253066 | ENG | c.81G>C (p.Leu27Phe) c.627G>C (p.Leu209Phe) n.82+299C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825757C>T | CA467231253 | ENG | c.81G>A (p.Leu27=) c.627G>A (p.Leu209=) n.82+299C>T | ClinVar dbSNP gnomAD v4 |
9 | g.127825758A= | CA1879975938 | ENG | c.80T= (p.Leu27=) c.626T= (p.Leu209=) n.82+300A= | |
9 | g.127825758A>C | CA374983604 | ENG | c.80T>G (p.Leu27Trp) c.626T>G (p.Leu209Trp) n.82+300A>C | |
9 | g.127825758A>G | CA374983605 | ENG | c.80T>C (p.Leu27Ser) c.626T>C (p.Leu209Ser) n.82+300A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825758A>T | CA374983606 | ENG | c.80T>A (p.Leu27Ter) c.626T>A (p.Leu209Ter) n.82+300A>T | ClinVar dbSNP |
9 | g.127825759A>C | CA374983607 | ENG | c.79T>G (p.Leu27Val) c.625T>G (p.Leu209Val) n.82+301A>C | |
9 | g.127825759A>G | CA467231256 | ENG | c.79T>C (p.Leu27=) c.625T>C (p.Leu209=) n.82+301A>G | |
9 | g.127825759A>T | CA374983608 | ENG | c.79T>A (p.Leu27Met) c.625T>A (p.Leu209Met) n.82+301A>T | |
9 | g.127825760G>A | CA467231259 | ENG | c.78C>T (p.His26=) c.624C>T (p.His208=) n.82+302G>A | |
9 | g.127825760G>C | CA374983609 | ENG | c.78C>G (p.His26Gln) c.624C>G (p.His208Gln) n.82+302G>C | |
9 | g.127825760G>T | CA374983610 | ENG | c.78C>A (p.His26Gln) c.624C>A (p.His208Gln) n.82+302G>T | gnomAD v4 |
9 | g.127825761T>A | CA374983611 | ENG | c.77A>T (p.His26Leu) c.623A>T (p.His208Leu) n.82+303T>A | |
9 | g.127825761T>C | CA374983612 | ENG | c.77A>G (p.His26Arg) c.623A>G (p.His208Arg) n.82+303T>C | |
9 | g.127825761T>G | CA374983613 | ENG | c.77A>C (p.His26Pro) c.623A>C (p.His208Pro) n.82+303T>G |