| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.94620328_94620491delinsCCCTTTTCTCCGGTTCCACTATGATGGCGTGTTTATCTTCTTCTGACACGAGAACACACGTGGCAAAGGATGACTTTAACATGTTCATAACCAGGTCGTTGGAGAGGACGTCCAGCTTCTTAACTTGATCACCTGTCACGTTGGTAGAACCAGCAATGCCATAG | CA1865239855 | FBP1 | c.171_333+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG c.69_231+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG c.-82_81+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG c.-76_87+1delinsCTATGGCATTGCTGGTTCTACCAACGTGACAGGTGATCAAGTTAAGAAGCTGGACGTCCTCTCCAACGACCTGGTTATGAACATGTTAAAGTCATCCTTTGCCACGTGTGTTCTCGTGTCAGAAGAAGATAAACACGCCATCATAGTGGAACCGGAGAAAAGGG | |
| 9 | g.94620330_94620492del | CA658821566 | FBP1 | c.171_333del c.69_231del c.-82_81del c.-76_87del | ClinVar dbSNP |
| 9 | g.94620396del | CA645294052 | FBP1 | c.267del (p.Phe90LeufsTer16) c.165del (p.Phe56LeufsTer16) c.15del (p.Phe6LeufsTer16) c.21del (p.Phe8LeufsTer16) | ClinVar dbSNP |
| 9 | g.94620396G>A | CA374108609 | FBP1 | c.266C>T (p.Ser89Phe) c.164C>T (p.Ser55Phe) c.14C>T (p.Ser5Phe) c.20C>T (p.Ser7Phe) | gnomAD v4 |
| 9 | g.94620396G>C | CA374108610 | FBP1 | c.266C>G (p.Ser89Cys) c.164C>G (p.Ser55Cys) c.14C>G (p.Ser5Cys) c.20C>G (p.Ser7Cys) | |
| 9 | g.94620396G>T | CA374108611 | FBP1 | c.266C>A (p.Ser89Tyr) c.164C>A (p.Ser55Tyr) c.14C>A (p.Ser5Tyr) c.20C>A (p.Ser7Tyr) | gnomAD v4 |
| 9 | g.94620397A>C | CA374108612 | FBP1 | c.265T>G (p.Ser89Ala) c.163T>G (p.Ser55Ala) c.13T>G (p.Ser5Ala) c.19T>G (p.Ser7Ala) | |
| 9 | g.94620397A>G | CA374108614 | FBP1 | c.265T>C (p.Ser89Pro) c.163T>C (p.Ser55Pro) c.13T>C (p.Ser5Pro) c.19T>C (p.Ser7Pro) | |
| 9 | g.94620397A>T | CA374108613 | FBP1 | c.265T>A (p.Ser89Thr) c.163T>A (p.Ser55Thr) c.13T>A (p.Ser5Thr) c.19T>A (p.Ser7Thr) | gnomAD v4 |
| 9 | g.94620398T>A | CA466102921 | FBP1 | c.264A>T (p.Ser88=) c.162A>T (p.Ser54=) c.12A>T (p.Ser4=) c.18A>T (p.Ser6=) | |
| 9 | g.94620398T>C | CA466102922 | FBP1 | c.264A>G (p.Ser88=) c.162A>G (p.Ser54=) c.12A>G (p.Ser4=) c.18A>G (p.Ser6=) | |
| 9 | g.94620398T>G | CA466102923 | FBP1 | c.264A>C (p.Ser88=) c.162A>C (p.Ser54=) c.12A>C (p.Ser4=) c.18A>C (p.Ser6=) | |
| 9 | g.94620399G>A | CA374108615 | FBP1 | c.263C>T (p.Ser88Leu) c.161C>T (p.Ser54Leu) c.11C>T (p.Ser4Leu) c.17C>T (p.Ser6Leu) | |
| 9 | g.94620399G>C | CA374108616 | FBP1 | c.263C>G (p.Ser88Ter) c.161C>G (p.Ser54Ter) c.11C>G (p.Ser4Ter) c.17C>G (p.Ser6Ter) | |
| 9 | g.94620399G>T | CA374108617 | FBP1 | c.263C>A (p.Ser88Ter) c.161C>A (p.Ser54Ter) c.11C>A (p.Ser4Ter) c.17C>A (p.Ser6Ter) | |
| 9 | g.94620400A>C | CA374108618 | FBP1 | c.262T>G (p.Ser88Ala) c.160T>G (p.Ser54Ala) c.10T>G (p.Ser4Ala) c.16T>G (p.Ser6Ala) | |
| 9 | g.94620400A>G | CA374108619 | FBP1 | c.262T>C (p.Ser88Pro) c.160T>C (p.Ser54Pro) c.10T>C (p.Ser4Pro) c.16T>C (p.Ser6Pro) | |
| 9 | g.94620400A>T | CA374108620 | FBP1 | c.262T>A (p.Ser88Thr) c.160T>A (p.Ser54Thr) c.10T>A (p.Ser4Thr) c.16T>A (p.Ser6Thr) | |
| 9 | g.94620401C>A | CA374108621 | FBP1 | c.261G>T (p.Lys87Asn) c.159G>T (p.Lys53Asn) c.9G>T (p.Lys3Asn) c.15G>T (p.Lys5Asn) | |
| 9 | g.94620401C>G | CA374108622 | FBP1 | c.261G>C (p.Lys87Asn) c.159G>C (p.Lys53Asn) c.9G>C (p.Lys3Asn) c.15G>C (p.Lys5Asn) | |
| 9 | g.94620401C>T | CA466102924 | FBP1 | c.261G>A (p.Lys87=) c.159G>A (p.Lys53=) c.9G>A (p.Lys3=) c.15G>A (p.Lys5=) | |
| 9 | g.94620402T>A | CA374108623 | FBP1 | c.260A>T (p.Lys87Met) c.158A>T (p.Lys53Met) c.8A>T (p.Lys3Met) c.14A>T (p.Lys5Met) | |
| 9 | g.94620402T>C | CA374108624 | FBP1 | c.260A>G (p.Lys87Arg) c.158A>G (p.Lys53Arg) c.8A>G (p.Lys3Arg) c.14A>G (p.Lys5Arg) | |
| 9 | g.94620402T>G | CA374108625 | FBP1 | c.260A>C (p.Lys87Thr) c.158A>C (p.Lys53Thr) c.8A>C (p.Lys3Thr) c.14A>C (p.Lys5Thr) | |
| 9 | g.94620403T>A | CA374108626 | FBP1 | c.259A>T (p.Lys87Ter) c.157A>T (p.Lys53Ter) c.7A>T (p.Lys3Ter) c.13A>T (p.Lys5Ter) | |
| 9 | g.94620403T>C | CA374108628 | FBP1 | c.259A>G (p.Lys87Glu) c.157A>G (p.Lys53Glu) c.7A>G (p.Lys3Glu) c.13A>G (p.Lys5Glu) | |
| 9 | g.94620403T>G | CA374108627 | FBP1 | c.259A>C (p.Lys87Gln) c.157A>C (p.Lys53Gln) c.7A>C (p.Lys3Gln) c.13A>C (p.Lys5Gln) | |
| 9 | g.94620404T>A | CA374108629 | FBP1 | c.258A>T (p.Leu86Phe) c.156A>T (p.Leu52Phe) c.6A>T (p.Leu2Phe) c.12A>T (p.Leu4Phe) | |
| 9 | g.94620404T>C | CA466102925 | FBP1 | c.258A>G (p.Leu86=) c.156A>G (p.Leu52=) c.6A>G (p.Leu2=) c.12A>G (p.Leu4=) | |
| 9 | g.94620404T>G | CA374108630 | FBP1 | c.258A>C (p.Leu86Phe) c.156A>C (p.Leu52Phe) c.6A>C (p.Leu2Phe) c.12A>C (p.Leu4Phe) | |
| 9 | g.94620405A>C | CA374108631 | FBP1 | c.257T>G (p.Leu86Ter) c.155T>G (p.Leu52Ter) c.5T>G (p.Leu2Ter) c.11T>G (p.Leu4Ter) | |
| 9 | g.94620405A>G | CA374108632 | FBP1 | c.257T>C (p.Leu86Ser) c.155T>C (p.Leu52Ser) c.5T>C (p.Leu2Ser) c.11T>C (p.Leu4Ser) | |
| 9 | g.94620405A>T | CA374108633 | FBP1 | c.257T>A (p.Leu86Ter) c.155T>A (p.Leu52Ter) c.5T>A (p.Leu2Ter) c.11T>A (p.Leu4Ter) | |
| 9 | g.94620406A>C | CA374108634 | FBP1 | c.256T>G (p.Leu86Val) c.154T>G (p.Leu52Val) c.4T>G (p.Leu2Val) c.10T>G (p.Leu4Val) | gnomAD v3 gnomAD v4 |
| 9 | g.94620406A>G | CA466102926 | FBP1 | c.256T>C (p.Leu86=) c.154T>C (p.Leu52=) c.4T>C (p.Leu2=) c.10T>C (p.Leu4=) | |
| 9 | g.94620406A>T | CA374108635 | FBP1 | c.256T>A (p.Leu86Ile) c.154T>A (p.Leu52Ile) c.4T>A (p.Leu2Ile) c.10T>A (p.Leu4Ile) | |
| 9 | g.94620407C>A | CA374108636 | FBP1 | c.255G>T (p.Met85Ile) c.153G>T (p.Met51Ile) c.3G>T (p.Met1Ile) c.9G>T (p.Met3Ile) | |
| 9 | g.94620407C= | CA1865239997 | FBP1 | c.255G= (p.Met85=) c.153G= (p.Met51=) c.3G= (p.Met1=) c.9G= (p.Met3=) | |
| 9 | g.94620407C>G | CA374108637 | FBP1 | c.255G>C (p.Met85Ile) c.153G>C (p.Met51Ile) c.3G>C (p.Met1Ile) c.9G>C (p.Met3Ile) | |
| 9 | g.94620407C>T | CA374108638 | FBP1 | c.255G>A (p.Met85Ile) c.153G>A (p.Met51Ile) c.3G>A (p.Met1Ile) c.9G>A (p.Met3Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.94620408A= | CA1865240006 | FBP1 | c.254T= (p.Met85=) c.152T= (p.Met51=) c.2T= (p.Met1=) c.8T= (p.Met3=) | |
| 9 | g.94620408A>C | CA374108639 | FBP1 | c.254T>G (p.Met85Arg) c.152T>G (p.Met51Arg) c.2T>G (p.Met1Arg) c.8T>G (p.Met3Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.94620408A>G | CA374108640 | FBP1 | c.254T>C (p.Met85Thr) c.152T>C (p.Met51Thr) c.2T>C (p.Met1Thr) c.8T>C (p.Met3Thr) | |
| 9 | g.94620408A>T | CA374108641 | FBP1 | c.254T>A (p.Met85Lys) c.152T>A (p.Met51Lys) c.2T>A (p.Met1Lys) c.8T>A (p.Met3Lys) | |
| 9 | g.94620409T>A | CA196564432 | FBP1 | c.253A>T (p.Met85Leu) c.151A>T (p.Met51Leu) c.1A>T (p.Met1Leu) c.7A>T (p.Met3Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.94620409T>C | CA374108643 | FBP1 | c.253A>G (p.Met85Val) c.151A>G (p.Met51Val) c.1A>G (p.Met1Val) c.7A>G (p.Met3Val) | |
| 9 | g.94620409T>G | CA374108642 | FBP1 | c.253A>C (p.Met85Leu) c.151A>C (p.Met51Leu) c.1A>C (p.Met1Leu) c.7A>C (p.Met3Leu) | |
| 9 | g.94620409T= | CA1865240010 | FBP1 | c.253A= (p.Met85=) c.151A= (p.Met51=) c.1A= (p.Met1=) c.7A= (p.Met3=) | |
| 9 | g.94620410G>A | CA466102927 | FBP1 | c.252C>T (p.Asn84=) c.150C>T (p.Asn50=) c.-1C>T (n.-1C>T) c.6C>T (p.Asn2=) | gnomAD v4 |
| 9 | g.94620410G>C | CA374108644 | FBP1 | c.252C>G (p.Asn84Lys) c.150C>G (p.Asn50Lys) c.-1C>G (n.-1C>G) c.6C>G (p.Asn2Lys) |