Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.94603437_94603438delinsAT | CA1865225125 | FBP1 | c.1120_1121delinsAT (n.1120_1121delinsAT) c.960_961delinsAT (p.Gly320=) c.765_766delinsAT (p.Gly255=) c.714_715delinsAT (p.Gly238=) | |
9 | g.94603438del | CA2739269400 | FBP1 | c.1120del (n.1120del) c.960del (p.Ser321ProfsTer9) c.765del (p.Ser256ProfsTer9) c.714del (p.Ser239ProfsTer9) | ClinVar |
9 | g.94603438T>A | CA466098277 | FBP1 | c.1120A>T (n.1120A>T) c.960A>T (p.Gly320=) c.765A>T (p.Gly255=) c.714A>T (p.Gly238=) | dbSNP |
9 | g.94603438T>C | CA5136067 | FBP1 | c.1120A>G (n.1120A>G) c.960A>G (p.Gly320=) c.765A>G (p.Gly255=) c.714A>G (p.Gly238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.94603438T>G | CA196550782 | FBP1 | c.1120A>C (n.1120A>C) c.960A>C (p.Gly320=) c.765A>C (p.Gly255=) c.714A>C (p.Gly238=) | dbSNP |
9 | g.94603438T= | CA1865225126 | FBP1 | c.1120A= (n.1120A=) c.960A= (p.Gly320=) c.765A= (p.Gly255=) c.714A= (p.Gly238=) | |
9 | g.94603438delinsCC | CA16042673 | FBP1 | c.1120delinsGG (n.1120delinsGG) c.960delinsGG (p.Ser321ValfsTer13) c.765delinsGG (p.Ser256ValfsTer13) c.714delinsGG (p.Ser239ValfsTer13) | ClinVar dbSNP |
9 | g.94603438_94603439delinsCA | CA2580080677 | FBP1 | c.1119_1120delinsTG (n.1119_1120delinsTG) c.959_960delinsTG (p.Gly320Val) c.764_765delinsTG (p.Gly255Val) c.713_714delinsTG (p.Gly238Val) | ClinVar |
9 | g.94603439C>A | CA374105697 | FBP1 | c.1119G>T (n.1119G>T) c.959G>T (p.Gly320Val) c.764G>T (p.Gly255Val) c.713G>T (p.Gly238Val) | |
9 | g.94603439C>G | CA374105698 | FBP1 | c.1119G>C (n.1119G>C) c.959G>C (p.Gly320Ala) c.764G>C (p.Gly255Ala) c.713G>C (p.Gly238Ala) | |
9 | g.94603439C>T | CA374105699 | FBP1 | c.1119G>A (n.1119G>A) c.959G>A (p.Gly320Glu) c.764G>A (p.Gly255Glu) c.713G>A (p.Gly238Glu) | gnomAD v4 |
9 | g.94603439_94603440insACCGGCGCCCTCTGGTGAATGTCTGATCTTGGGGGGACC | CA1126929237 | FBP1 | c.1119_1120insGTCCCCCCAAGATCAGACATTCACCAGAGGGCGCCGGTG (n.1119_1120insGTCCCCCCAAGATCAGACATTCACCAGAGGGCGCCGGTG) c.959_960insGTCCCCCCAAGATCAGACATTCACCAGAGGGCGCCGGTG (p.Gly321SerfsTer13) c.764_765insGTCCCCCCAAGATCAGACATTCACCAGAGGGCGCCGGTG (p.Gly256SerfsTer13) c.713_714insGTCCCCCCAAGATCAGACATTCACCAGAGGGCGCCGGTG (p.Gly239SerfsTer13) | gnomAD v3 gnomAD v4 |
9 | g.94603441dup | CA2695210715 | FBP1 | c.1119dup (n.1119dup) c.959dup (p.Ser321IlefsTer13) c.764dup (p.Ser256IlefsTer13) c.713dup (p.Ser239IlefsTer13) | |
9 | g.94603440C>A | CA5136068 | FBP1 | c.1118G>T (n.1118G>T) c.958G>T (p.Gly320Ter) c.763G>T (p.Gly255Ter) c.712G>T (p.Gly238Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.94603440C= | CA1865225127 | FBP1 | c.1118G= (n.1118G=) c.958G= (p.Gly320=) c.763G= (p.Gly255=) c.712G= (p.Gly238=) | |
9 | g.94603440C>G | CA374105701 | FBP1 | c.1118G>C (n.1118G>C) c.958G>C (p.Gly320Arg) c.763G>C (p.Gly255Arg) c.712G>C (p.Gly238Arg) | |
9 | g.94603440C>T | CA374105703 | FBP1 | c.1118G>A (n.1118G>A) c.958G>A (p.Gly320Arg) c.763G>A (p.Gly255Arg) c.712G>A (p.Gly238Arg) | gnomAD v4 |
9 | g.94603441C>A | CA374105707 | FBP1 | c.1117G>T (n.1117G>T) c.957G>T (p.Leu319Phe) c.762G>T (p.Leu254Phe) c.711G>T (p.Leu237Phe) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.94603441C= | CA1865225128 | FBP1 | c.1117G= (n.1117G=) c.957G= (p.Leu319=) c.762G= (p.Leu254=) c.711G= (p.Leu237=) | |
9 | g.94603441C>G | CA374105705 | FBP1 | c.1117G>C (n.1117G>C) c.957G>C (p.Leu319Phe) c.762G>C (p.Leu254Phe) c.711G>C (p.Leu237Phe) | |
9 | g.94603441C>T | CA196550795 | FBP1 | c.1117G>A (n.1117G>A) c.957G>A (p.Leu319=) c.762G>A (p.Leu254=) c.711G>A (p.Leu237=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.94603442A>C | CA374105709 | FBP1 | c.1116T>G (n.1116T>G) c.956T>G (p.Leu319Trp) c.761T>G (p.Leu254Trp) c.710T>G (p.Leu237Trp) | |
9 | g.94603442A>G | CA374105710 | FBP1 | c.1116T>C (n.1116T>C) c.956T>C (p.Leu319Ser) c.761T>C (p.Leu254Ser) c.710T>C (p.Leu237Ser) | |
9 | g.94603442A>T | CA374105712 | FBP1 | c.1116T>A (n.1116T>A) c.956T>A (p.Leu319Ter) c.761T>A (p.Leu254Ter) c.710T>A (p.Leu237Ter) | |
9 | g.94603443A>C | CA374105713 | FBP1 | c.1115T>G (n.1115T>G) c.955T>G (p.Leu319Val) c.760T>G (p.Leu254Val) c.709T>G (p.Leu237Val) | |
9 | g.94603443A>G | CA466098307 | FBP1 | c.1115T>C (n.1115T>C) c.955T>C (p.Leu319=) c.760T>C (p.Leu254=) c.709T>C (p.Leu237=) | gnomAD v4 |
9 | g.94603443A>T | CA374105715 | FBP1 | c.1115T>A (n.1115T>A) c.955T>A (p.Leu319Met) c.760T>A (p.Leu254Met) c.709T>A (p.Leu237Met) | |
9 | g.94603444G>A | CA466098311 | FBP1 | c.1114C>T (n.1114C>T) c.954C>T (p.Ile318=) c.759C>T (p.Ile253=) c.708C>T (p.Ile236=) | |
9 | g.94603444G>C | CA374105717 | FBP1 | c.1114C>G (n.1114C>G) c.954C>G (p.Ile318Met) c.759C>G (p.Ile253Met) c.708C>G (p.Ile236Met) | |
9 | g.94603444G>T | CA466098314 | FBP1 | c.1114C>A (n.1114C>A) c.954C>A (p.Ile318=) c.759C>A (p.Ile253=) c.708C>A (p.Ile236=) | |
9 | g.94603445A= | CA1865225129 | FBP1 | c.1113T= (n.1113T=) c.953T= (p.Ile318=) c.758T= (p.Ile253=) c.707T= (p.Ile236=) | |
9 | g.94603445A>C | CA374105718 | FBP1 | c.1113T>G (n.1113T>G) c.953T>G (p.Ile318Ser) c.758T>G (p.Ile253Ser) c.707T>G (p.Ile236Ser) | |
9 | g.94603445A>G | CA374105720 | FBP1 | c.1113T>C (n.1113T>C) c.953T>C (p.Ile318Thr) c.758T>C (p.Ile253Thr) c.707T>C (p.Ile236Thr) | dbSNP |
9 | g.94603445A>T | CA374105721 | FBP1 | c.1113T>A (n.1113T>A) c.953T>A (p.Ile318Asn) c.758T>A (p.Ile253Asn) c.707T>A (p.Ile236Asn) | |
9 | g.94603446T>A | CA374105723 | FBP1 | c.1112A>T (n.1112A>T) c.952A>T (p.Ile318Phe) c.757A>T (p.Ile253Phe) c.706A>T (p.Ile236Phe) | |
9 | g.94603446T>C | CA374105725 | FBP1 | c.1112A>G (n.1112A>G) c.952A>G (p.Ile318Val) c.757A>G (p.Ile253Val) c.706A>G (p.Ile236Val) | |
9 | g.94603446T>G | CA374105726 | FBP1 | c.1112A>C (n.1112A>C) c.952A>C (p.Ile318Leu) c.757A>C (p.Ile253Leu) c.706A>C (p.Ile236Leu) | |
9 | g.94603447C>A | CA466098331 | FBP1 | c.1111G>T (n.1111G>T) c.951G>T (p.Val317=) c.756G>T (p.Val252=) c.705G>T (p.Val235=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.94603447C= | CA1865225130 | FBP1 | c.1111G= (n.1111G=) c.951G= (p.Val317=) c.756G= (p.Val252=) c.705G= (p.Val235=) | |
9 | g.94603447C>G | CA466098332 | FBP1 | c.1111G>C (n.1111G>C) c.951G>C (p.Val317=) c.756G>C (p.Val252=) c.705G>C (p.Val235=) | |
9 | g.94603447C>T | CA466098335 | FBP1 | c.1111G>A (n.1111G>A) c.951G>A (p.Val317=) c.756G>A (p.Val252=) c.705G>A (p.Val235=) | |
9 | g.94603448A>C | CA374105731 | FBP1 | c.1110T>G (n.1110T>G) c.950T>G (p.Val317Gly) c.755T>G (p.Val252Gly) c.704T>G (p.Val235Gly) | gnomAD v4 |
9 | g.94603448A>G | CA374105729 | FBP1 | c.1110T>C (n.1110T>C) c.950T>C (p.Val317Ala) c.755T>C (p.Val252Ala) c.704T>C (p.Val235Ala) | |
9 | g.94603448A>T | CA374105728 | FBP1 | c.1110T>A (n.1110T>A) c.950T>A (p.Val317Glu) c.755T>A (p.Val252Glu) c.704T>A (p.Val235Glu) | |
9 | g.94603449C>A | CA374105732 | FBP1 | c.1109G>T (n.1109G>T) c.949G>T (p.Val317Leu) c.754G>T (p.Val252Leu) c.703G>T (p.Val235Leu) | gnomAD v4 |
9 | g.94603449C>G | CA374105736 | FBP1 | c.1109G>C (n.1109G>C) c.949G>C (p.Val317Leu) c.754G>C (p.Val252Leu) c.703G>C (p.Val235Leu) | |
9 | g.94603449C>T | CA374105734 | FBP1 | c.1109G>A (n.1109G>A) c.949G>A (p.Val317Met) c.754G>A (p.Val252Met) c.703G>A (p.Val235Met) | |
9 | g.94603450C>A | CA466098347 | FBP1 | c.1108G>T (n.1108G>T) c.948G>T (p.Pro316=) c.753G>T (p.Pro251=) c.702G>T (p.Pro234=) | dbSNP gnomAD v2 |
9 | g.94603450C= | CA1865225131 | FBP1 | c.1108G= (n.1108G=) c.948G= (p.Pro316=) c.753G= (p.Pro251=) c.702G= (p.Pro234=) | |
9 | g.94603450C>G | CA466098349 | FBP1 | c.1108G>C (n.1108G>C) c.948G>C (p.Pro316=) c.753G>C (p.Pro251=) c.702G>C (p.Pro234=) |