Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.94605552_94605562delinsGGGCCCCATAA | CA1865226061 | FBP1 | c.880_890delinsTTATGGGGCCC (n.880_890delinsTTATGGGGCCC) c.720_730delinsTTATGGGGCCC (p.Pro240=) c.525_535delinsTTATGGGGCCC (p.Pro175=) c.474_484delinsTTATGGGGCCC (p.Pro158=) | |
9 | g.94605555_94605564del | CA16609828 | FBP1 | c.880_889del (n.880_889del) c.720_729del (p.Tyr241GlyfsTer?) c.525_534del (p.Tyr176GlyfsTer?) c.474_483del (p.Tyr159GlyfsTer?) | ClinVar dbSNP |
9 | g.94605556_94605580del | CA2690769175 | FBP1 | c.866-2_888del c.706-2_728del c.511-2_533del c.460-2_482del | gnomAD v4 |
9 | g.94605555C>A | CA374106512 | FBP1 | c.887G>T (n.887G>T) c.727G>T (p.Ala243Ser) c.532G>T (p.Ala178Ser) c.481G>T (p.Ala161Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.94605555C= | CA1865226063 | FBP1 | c.887G= (n.887G=) c.727G= (p.Ala243=) c.532G= (p.Ala178=) c.481G= (p.Ala161=) | |
9 | g.94605555C>G | CA374106510 | FBP1 | c.887G>C (n.887G>C) c.727G>C (p.Ala243Pro) c.532G>C (p.Ala178Pro) c.481G>C (p.Ala161Pro) | |
9 | g.94605555C>T | CA374106511 | FBP1 | c.887G>A (n.887G>A) c.727G>A (p.Ala243Thr) c.532G>A (p.Ala178Thr) c.481G>A (p.Ala161Thr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.94605557_94605558dup | CA2690769176 | FBP1 | c.886_887dup (n.886_887dup) c.726_727dup (p.Ala243GlyfsTer?) c.531_532dup (p.Ala178GlyfsTer?) c.480_481dup (p.Ala161GlyfsTer?) | gnomAD v4 |
9 | g.94605556C>A | CA466099852 | FBP1 | c.886G>T (n.886G>T) c.726G>T (p.Gly242=) c.531G>T (p.Gly177=) c.480G>T (p.Gly160=) | |
9 | g.94605556C= | CA1865226064 | FBP1 | c.886G= (n.886G=) c.726G= (p.Gly242=) c.531G= (p.Gly177=) c.480G= (p.Gly160=) | |
9 | g.94605556C>G | CA466099853 | FBP1 | c.886G>C (n.886G>C) c.726G>C (p.Gly242=) c.531G>C (p.Gly177=) c.480G>C (p.Gly160=) | |
9 | g.94605556C>T | CA466099851 | FBP1 | c.886G>A (n.886G>A) c.726G>A (p.Gly242=) c.531G>A (p.Gly177=) c.480G>A (p.Gly160=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.94605557C>A | CA374106513 | FBP1 | c.885G>T (n.885G>T) c.725G>T (p.Gly242Val) c.530G>T (p.Gly177Val) c.479G>T (p.Gly160Val) | |
9 | g.94605557C>G | CA374106514 | FBP1 | c.885G>C (n.885G>C) c.725G>C (p.Gly242Ala) c.530G>C (p.Gly177Ala) c.479G>C (p.Gly160Ala) | |
9 | g.94605557C>T | CA374106515 | FBP1 | c.885G>A (n.885G>A) c.725G>A (p.Gly242Glu) c.530G>A (p.Gly177Glu) c.479G>A (p.Gly160Glu) | |
9 | g.94605558C>A | CA374106516 | FBP1 | c.884G>T (n.884G>T) c.724G>T (p.Gly242Trp) c.529G>T (p.Gly177Trp) c.478G>T (p.Gly160Trp) | |
9 | g.94605558C>G | CA374106517 | FBP1 | c.884G>C (n.884G>C) c.724G>C (p.Gly242Arg) c.529G>C (p.Gly177Arg) c.478G>C (p.Gly160Arg) | |
9 | g.94605558C>T | CA374106518 | FBP1 | c.884G>A (n.884G>A) c.724G>A (p.Gly242Arg) c.529G>A (p.Gly177Arg) c.478G>A (p.Gly160Arg) | |
9 | g.94605559A= | CA1865226065 | FBP1 | c.883T= (n.883T=) c.723T= (p.Tyr241=) c.528T= (p.Tyr176=) c.477T= (p.Tyr159=) | |
9 | g.94605559A>C | CA374106519 | FBP1 | c.883T>G (n.883T>G) c.723T>G (p.Tyr241Ter) c.528T>G (p.Tyr176Ter) c.477T>G (p.Tyr159Ter) | ClinVar dbSNP |
9 | g.94605559A>G | CA466099857 | FBP1 | c.883T>C (n.883T>C) c.723T>C (p.Tyr241=) c.528T>C (p.Tyr176=) c.477T>C (p.Tyr159=) | |
9 | g.94605559A>T | CA5136138 | FBP1 | c.883T>A (n.883T>A) c.723T>A (p.Tyr241Ter) c.528T>A (p.Tyr176Ter) c.477T>A (p.Tyr159Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.94605560T>A | CA374106520 | FBP1 | c.882A>T (n.882A>T) c.722A>T (p.Tyr241Phe) c.527A>T (p.Tyr176Phe) c.476A>T (p.Tyr159Phe) | |
9 | g.94605560T>C | CA5136139 | FBP1 | c.882A>G (n.882A>G) c.722A>G (p.Tyr241Cys) c.527A>G (p.Tyr176Cys) c.476A>G (p.Tyr159Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.94605560T>G | CA374106521 | FBP1 | c.882A>C (n.882A>C) c.722A>C (p.Tyr241Ser) c.527A>C (p.Tyr176Ser) c.476A>C (p.Tyr159Ser) | |
9 | g.94605560T= | CA1865226066 | FBP1 | c.882A= (n.882A=) c.722A= (p.Tyr241=) c.527A= (p.Tyr176=) c.476A= (p.Tyr159=) | |
9 | g.94605561A= | CA1865226067 | FBP1 | c.881T= (n.881T=) c.721T= (p.Tyr241=) c.526T= (p.Tyr176=) c.475T= (p.Tyr159=) | |
9 | g.94605561A>C | CA374106523 | FBP1 | c.881T>G (n.881T>G) c.721T>G (p.Tyr241Asp) c.526T>G (p.Tyr176Asp) c.475T>G (p.Tyr159Asp) | |
9 | g.94605561A>G | CA5136140 | FBP1 | c.881T>C (n.881T>C) c.721T>C (p.Tyr241His) c.526T>C (p.Tyr176His) c.475T>C (p.Tyr159His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.94605561A>T | CA374106522 | FBP1 | c.881T>A (n.881T>A) c.721T>A (p.Tyr241Asn) c.526T>A (p.Tyr176Asn) c.475T>A (p.Tyr159Asn) | |
9 | g.94605562A= | CA1865226068 | FBP1 | c.880T= (n.880T=) c.720T= (p.Pro240=) c.525T= (p.Pro175=) c.474T= (p.Pro158=) | |
9 | g.94605562A>C | CA466099861 | FBP1 | c.880T>G (n.880T>G) c.720T>G (p.Pro240=) c.525T>G (p.Pro175=) c.474T>G (p.Pro158=) | |
9 | g.94605562A>G | CA466099865 | FBP1 | c.880T>C (n.880T>C) c.720T>C (p.Pro240=) c.525T>C (p.Pro175=) c.474T>C (p.Pro158=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.94605562A>T | CA466099866 | FBP1 | c.880T>A (n.880T>A) c.720T>A (p.Pro240=) c.525T>A (p.Pro175=) c.474T>A (p.Pro158=) | |
9 | g.94605563G>A | CA374106524 | FBP1 | c.879C>T (n.879C>T) c.719C>T (p.Pro240Leu) c.524C>T (p.Pro175Leu) c.473C>T (p.Pro158Leu) | COSMIC |
9 | g.94605563G>C | CA374106525 | FBP1 | c.879C>G (n.879C>G) c.719C>G (p.Pro240Arg) c.524C>G (p.Pro175Arg) c.473C>G (p.Pro158Arg) | |
9 | g.94605563G>T | CA374106526 | FBP1 | c.879C>A (n.879C>A) c.719C>A (p.Pro240His) c.524C>A (p.Pro175His) c.473C>A (p.Pro158His) | |
9 | g.94605564G>A | CA374106527 | FBP1 | c.878C>T (n.878C>T) c.718C>T (p.Pro240Ser) c.523C>T (p.Pro175Ser) c.472C>T (p.Pro158Ser) | gnomAD v4 COSMIC |
9 | g.94605564G>C | CA374106528 | FBP1 | c.878C>G (n.878C>G) c.718C>G (p.Pro240Ala) c.523C>G (p.Pro175Ala) c.472C>G (p.Pro158Ala) | |
9 | g.94605564G>T | CA374106529 | FBP1 | c.878C>A (n.878C>A) c.718C>A (p.Pro240Thr) c.523C>A (p.Pro175Thr) c.472C>A (p.Pro158Thr) | |
9 | g.94605565A>C | CA466099868 | FBP1 | c.877T>G (n.877T>G) c.717T>G (p.Ala239=) c.522T>G (p.Ala174=) c.471T>G (p.Ala157=) | |
9 | g.94605565A>G | CA466099869 | FBP1 | c.877T>C (n.877T>C) c.717T>C (p.Ala239=) c.522T>C (p.Ala174=) c.471T>C (p.Ala157=) | |
9 | g.94605565A>T | CA466099871 | FBP1 | c.877T>A (n.877T>A) c.717T>A (p.Ala239=) c.522T>A (p.Ala174=) c.471T>A (p.Ala157=) | |
9 | g.94605566G>A | CA374106530 | FBP1 | c.876C>T (n.876C>T) c.716C>T (p.Ala239Val) c.521C>T (p.Ala174Val) c.470C>T (p.Ala157Val) | |
9 | g.94605566G>C | CA374106531 | FBP1 | c.876C>G (n.876C>G) c.716C>G (p.Ala239Gly) c.521C>G (p.Ala174Gly) c.470C>G (p.Ala157Gly) | |
9 | g.94605566G>T | CA374106532 | FBP1 | c.876C>A (n.876C>A) c.716C>A (p.Ala239Asp) c.521C>A (p.Ala174Asp) c.470C>A (p.Ala157Asp) | |
9 | g.94605567C>A | CA374106533 | FBP1 | c.875G>T (n.875G>T) c.715G>T (p.Ala239Ser) c.520G>T (p.Ala174Ser) c.469G>T (p.Ala157Ser) | |
9 | g.94605567C>G | CA374106534 | FBP1 | c.875G>C (n.875G>C) c.715G>C (p.Ala239Pro) c.520G>C (p.Ala174Pro) c.469G>C (p.Ala157Pro) | |
9 | g.94605567C>T | CA374106535 | FBP1 | c.875G>A (n.875G>A) c.715G>A (p.Ala239Thr) c.520G>A (p.Ala174Thr) c.469G>A (p.Ala157Thr) | gnomAD v4 |
9 | g.94605568T>A | CA466099873 | FBP1 | c.874A>T (n.874A>T) c.714A>T (p.Ser238=) c.519A>T (p.Ser173=) c.468A>T (p.Ser156=) |