Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.93896677G>A | CA2503336 | PROS1 | c.864C>T (p.Cys288=) c.819C>T (p.Cys273=) n.1032C>T c.822C>T (p.Cys274=) c.963C>T (n.963C>T) c.960C>T (p.Cys320=) c.471C>T (p.Cys157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.93896677G>C | CA353672725 | PROS1 | c.864C>G (p.Cys288Trp) c.819C>G (p.Cys273Trp) n.1032C>G c.822C>G (p.Cys274Trp) c.963C>G (n.963C>G) c.960C>G (p.Cys320Trp) c.471C>G (p.Cys157Trp) | |
3 | g.93896677G= | CA1385038335 | PROS1 | c.864C= (p.Cys288=) c.819C= (p.Cys273=) n.1032C= c.822C= (p.Cys274=) c.963C= (n.963C=) c.960C= (p.Cys320=) c.471C= (p.Cys157=) | |
3 | g.93896677G>T | CA353672726 | PROS1 | c.864C>A (p.Cys288Ter) c.819C>A (p.Cys273Ter) n.1032C>A c.822C>A (p.Cys274Ter) c.963C>A (n.963C>A) c.960C>A (p.Cys320Ter) c.471C>A (p.Cys157Ter) | ClinVar dbSNP |
3 | g.93896678C>A | CA353672727 | PROS1 | c.863G>T (p.Cys288Phe) c.818G>T (p.Cys273Phe) n.1031G>T c.821G>T (p.Cys274Phe) c.962G>T (n.962G>T) c.959G>T (p.Cys320Phe) c.470G>T (p.Cys157Phe) | |
3 | g.93896678C>G | CA353672728 | PROS1 | c.863G>C (p.Cys288Ser) c.818G>C (p.Cys273Ser) n.1031G>C c.821G>C (p.Cys274Ser) c.962G>C (n.962G>C) c.959G>C (p.Cys320Ser) c.470G>C (p.Cys157Ser) | |
3 | g.93896678C>T | CA353672729 | PROS1 | c.863G>A (p.Cys288Tyr) c.818G>A (p.Cys273Tyr) n.1031G>A c.821G>A (p.Cys274Tyr) c.962G>A (n.962G>A) c.959G>A (p.Cys320Tyr) c.470G>A (p.Cys157Tyr) | gnomAD v4 COSMIC |
3 | g.93896679A>C | CA353672731 | PROS1 | c.862T>G (p.Cys288Gly) c.817T>G (p.Cys273Gly) n.1030T>G c.820T>G (p.Cys274Gly) c.961T>G (n.961T>G) c.958T>G (p.Cys320Gly) c.469T>G (p.Cys157Gly) | |
3 | g.93896679A>G | CA353672732 | PROS1 | c.862T>C (p.Cys288Arg) c.817T>C (p.Cys273Arg) n.1030T>C c.820T>C (p.Cys274Arg) c.961T>C (n.961T>C) c.958T>C (p.Cys320Arg) c.469T>C (p.Cys157Arg) | |
3 | g.93896679A>T | CA353672730 | PROS1 | c.862T>A (p.Cys288Ser) c.817T>A (p.Cys273Ser) n.1030T>A c.820T>A (p.Cys274Ser) c.961T>A (n.961T>A) c.958T>A (p.Cys320Ser) c.469T>A (p.Cys157Ser) | |
3 | g.93896680C>A | CA434460889 | PROS1 | c.861G>T (p.Val287=) c.816G>T (p.Val272=) n.1029G>T c.819G>T (p.Val273=) c.960G>T (n.960G>T) c.957G>T (p.Val319=) c.468G>T (p.Val156=) | |
3 | g.93896680C>G | CA434460891 | PROS1 | c.861G>C (p.Val287=) c.816G>C (p.Val272=) n.1029G>C c.819G>C (p.Val273=) c.960G>C (n.960G>C) c.957G>C (p.Val319=) c.468G>C (p.Val156=) | |
3 | g.93896680C>T | CA434460892 | PROS1 | c.861G>A (p.Val287=) c.816G>A (p.Val272=) n.1029G>A c.819G>A (p.Val273=) c.960G>A (n.960G>A) c.957G>A (p.Val319=) c.468G>A (p.Val156=) | gnomAD v4 |
3 | g.93896681A= | CA1385038336 | PROS1 | c.860T= (p.Val287=) c.815T= (p.Val272=) n.1028T= c.818T= (p.Val273=) c.959T= (n.959T=) c.956T= (p.Val319=) c.467T= (p.Val156=) | |
3 | g.93896681A>C | CA353672733 | PROS1 | c.860T>G (p.Val287Gly) c.815T>G (p.Val272Gly) n.1028T>G c.818T>G (p.Val273Gly) c.959T>G (n.959T>G) c.956T>G (p.Val319Gly) c.467T>G (p.Val156Gly) | dbSNP gnomAD v4 |
3 | g.93896681A>G | CA2503337 | PROS1 | c.860T>C (p.Val287Ala) c.815T>C (p.Val272Ala) n.1028T>C c.818T>C (p.Val273Ala) c.959T>C (n.959T>C) c.956T>C (p.Val319Ala) c.467T>C (p.Val156Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.93896681A>T | CA353672734 | PROS1 | c.860T>A (p.Val287Glu) c.815T>A (p.Val272Glu) n.1028T>A c.818T>A (p.Val273Glu) c.959T>A (n.959T>A) c.956T>A (p.Val319Glu) c.467T>A (p.Val156Glu) | |
3 | g.93896681dup | CA2586972702 | PROS1 | c.860dup (p.Cys288ValfsTer7) c.815dup (p.Cys273ValfsTer7) n.1028dup c.818dup (p.Cys274ValfsTer7) c.959dup (n.959dup) c.956dup (p.Cys320ValfsTer7) c.467dup (p.Cys157ValfsTer7) | |
3 | g.93896682C>A | CA353672735 | PROS1 | c.859G>T (p.Val287Leu) c.814G>T (p.Val272Leu) n.1027G>T c.817G>T (p.Val273Leu) c.958G>T (n.958G>T) c.955G>T (p.Val319Leu) c.466G>T (p.Val156Leu) | |
3 | g.93896682C>G | CA353672737 | PROS1 | c.859G>C (p.Val287Leu) c.814G>C (p.Val272Leu) n.1027G>C c.817G>C (p.Val273Leu) c.958G>C (n.958G>C) c.955G>C (p.Val319Leu) c.466G>C (p.Val156Leu) | gnomAD v4 |
3 | g.93896682C>T | CA353672736 | PROS1 | c.859G>A (p.Val287Met) c.814G>A (p.Val272Met) n.1027G>A c.817G>A (p.Val273Met) c.958G>A (n.958G>A) c.955G>A (p.Val319Met) c.466G>A (p.Val156Met) | |
3 | g.93896683T>A | CA78484119 | PROS1 | c.858A>T (p.Ser286=) c.813A>T (p.Ser271=) n.1026A>T c.816A>T (p.Ser272=) c.957A>T (n.957A>T) c.954A>T (p.Ser318=) c.465A>T (p.Ser155=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.93896683T>C | CA434460902 | PROS1 | c.858A>G (p.Ser286=) c.813A>G (p.Ser271=) n.1026A>G c.816A>G (p.Ser272=) c.957A>G (n.957A>G) c.954A>G (p.Ser318=) c.465A>G (p.Ser155=) | |
3 | g.93896683T>G | CA434460904 | PROS1 | c.858A>C (p.Ser286=) c.813A>C (p.Ser271=) n.1026A>C c.816A>C (p.Ser272=) c.957A>C (n.957A>C) c.954A>C (p.Ser318=) c.465A>C (p.Ser155=) | |
3 | g.93896683T= | CA1385038337 | PROS1 | c.858A= (p.Ser286=) c.813A= (p.Ser271=) n.1026A= c.816A= (p.Ser272=) c.957A= (n.957A=) c.954A= (p.Ser318=) c.465A= (p.Ser155=) | |
3 | g.93896684G>A | CA353672738 | PROS1 | c.857C>T (p.Ser286Leu) c.812C>T (p.Ser271Leu) n.1025C>T c.815C>T (p.Ser272Leu) c.956C>T (n.956C>T) c.953C>T (p.Ser318Leu) c.464C>T (p.Ser155Leu) | COSMIC |
3 | g.93896684G>C | CA353672740 | PROS1 | c.857C>G (p.Ser286Ter) c.812C>G (p.Ser271Ter) n.1025C>G c.815C>G (p.Ser272Ter) c.956C>G (n.956C>G) c.953C>G (p.Ser318Ter) c.464C>G (p.Ser155Ter) | |
3 | g.93896684G>T | CA353672739 | PROS1 | c.857C>A (p.Ser286Ter) c.812C>A (p.Ser271Ter) n.1025C>A c.815C>A (p.Ser272Ter) c.956C>A (n.956C>A) c.953C>A (p.Ser318Ter) c.464C>A (p.Ser155Ter) | |
3 | g.93896685A>C | CA353672741 | PROS1 | c.856T>G (p.Ser286Ala) c.811T>G (p.Ser271Ala) n.1024T>G c.814T>G (p.Ser272Ala) c.955T>G (n.955T>G) c.952T>G (p.Ser318Ala) c.463T>G (p.Ser155Ala) | |
3 | g.93896685A>G | CA353672742 | PROS1 | c.856T>C (p.Ser286Pro) c.811T>C (p.Ser271Pro) n.1024T>C c.814T>C (p.Ser272Pro) c.955T>C (n.955T>C) c.952T>C (p.Ser318Pro) c.463T>C (p.Ser155Pro) | |
3 | g.93896685A>T | CA353672743 | PROS1 | c.856T>A (p.Ser286Thr) c.811T>A (p.Ser271Thr) n.1024T>A c.814T>A (p.Ser272Thr) c.955T>A (n.955T>A) c.952T>A (p.Ser318Thr) c.463T>A (p.Ser155Thr) | |
3 | g.93896685_93896688delinsAAAC | CA1385038338 | PROS1 | c.853_856delinsGTTT (p.Val285=) c.808_811delinsGTTT (p.Val270=) n.1021_1024delinsGTTT c.811_814delinsGTTT (p.Val271=) c.952_955delinsGTTT (n.952_955delinsGTTT) c.949_952delinsGTTT (p.Val317=) c.460_463delinsGTTT (p.Val154=) | |
3 | g.93896686A= | CA1385038339 | PROS1 | c.855T= (p.Val285=) c.810T= (p.Val270=) n.1023T= c.813T= (p.Val271=) c.954T= (n.954T=) c.951T= (p.Val317=) c.462T= (p.Val154=) | |
3 | g.93896686A>C | CA2503338 | PROS1 | c.855T>G (p.Val285=) c.810T>G (p.Val270=) n.1023T>G c.813T>G (p.Val271=) c.954T>G (n.954T>G) c.951T>G (p.Val317=) c.462T>G (p.Val154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.93896686A>G | CA434460915 | PROS1 | c.855T>C (p.Val285=) c.810T>C (p.Val270=) n.1023T>C c.813T>C (p.Val271=) c.954T>C (n.954T>C) c.951T>C (p.Val317=) c.462T>C (p.Val154=) | |
3 | g.93896686A>T | CA434460916 | PROS1 | c.855T>A (p.Val285=) c.810T>A (p.Val270=) n.1023T>A c.813T>A (p.Val271=) c.954T>A (n.954T>A) c.951T>A (p.Val317=) c.462T>A (p.Val154=) | |
3 | g.93896689_93896691del | CA544750412 | PROS1 | c.853_855del (p.Val285del) c.808_810del (p.Val270del) n.1021_1023del c.811_813del (p.Val271del) c.952_954del (n.952_954del) c.949_951del (p.Val317del) c.460_462del (p.Val154del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.93896687A>C | CA353672744 | PROS1 | c.854T>G (p.Val285Gly) c.809T>G (p.Val270Gly) n.1022T>G c.812T>G (p.Val271Gly) c.953T>G (n.953T>G) c.950T>G (p.Val317Gly) c.461T>G (p.Val154Gly) | |
3 | g.93896687A>G | CA353672745 | PROS1 | c.854T>C (p.Val285Ala) c.809T>C (p.Val270Ala) n.1022T>C c.812T>C (p.Val271Ala) c.953T>C (n.953T>C) c.950T>C (p.Val317Ala) c.461T>C (p.Val154Ala) | |
3 | g.93896687A>T | CA353672746 | PROS1 | c.854T>A (p.Val285Asp) c.809T>A (p.Val270Asp) n.1022T>A c.812T>A (p.Val271Asp) c.953T>A (n.953T>A) c.950T>A (p.Val317Asp) c.461T>A (p.Val154Asp) | COSMIC |
3 | g.93896688C>A | CA353672747 | PROS1 | c.853G>T (p.Val285Phe) c.808G>T (p.Val270Phe) n.1021G>T c.811G>T (p.Val271Phe) c.952G>T (n.952G>T) c.949G>T (p.Val317Phe) c.460G>T (p.Val154Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.93896688C= | CA1385038340 | PROS1 | c.853G= (p.Val285=) c.808G= (p.Val270=) n.1021G= c.811G= (p.Val271=) c.952G= (n.952G=) c.949G= (p.Val317=) c.460G= (p.Val154=) | |
3 | g.93896688C>G | CA353672748 | PROS1 | c.853G>C (p.Val285Leu) c.808G>C (p.Val270Leu) n.1021G>C c.811G>C (p.Val271Leu) c.952G>C (n.952G>C) c.949G>C (p.Val317Leu) c.460G>C (p.Val154Leu) | |
3 | g.93896688C>T | CA353672749 | PROS1 | c.853G>A (p.Val285Ile) c.808G>A (p.Val270Ile) n.1021G>A c.811G>A (p.Val271Ile) c.952G>A (n.952G>A) c.949G>A (p.Val317Ile) c.460G>A (p.Val154Ile) | |
3 | g.93896689A= | CA1385038341 | PROS1 | c.852T= (p.Val284=) c.807T= (p.Val269=) n.1020T= c.810T= (p.Val270=) c.951T= (n.951T=) c.948T= (p.Val316=) c.459T= (p.Val153=) | |
3 | g.93896689A>C | CA2503339 | PROS1 | c.852T>G (p.Val284=) c.807T>G (p.Val269=) n.1020T>G c.810T>G (p.Val270=) c.951T>G (n.951T>G) c.948T>G (p.Val316=) c.459T>G (p.Val153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.93896689A>G | CA434460925 | PROS1 | c.852T>C (p.Val284=) c.807T>C (p.Val269=) n.1020T>C c.810T>C (p.Val270=) c.951T>C (n.951T>C) c.948T>C (p.Val316=) c.459T>C (p.Val153=) | |
3 | g.93896689A>T | CA434460928 | PROS1 | c.852T>A (p.Val284=) c.807T>A (p.Val269=) n.1020T>A c.810T>A (p.Val270=) c.951T>A (n.951T>A) c.948T>A (p.Val316=) c.459T>A (p.Val153=) | |
3 | g.93896690A= | CA1385038342 | PROS1 | c.851T= (p.Val284=) c.806T= (p.Val269=) n.1019T= c.809T= (p.Val270=) c.950T= (n.950T=) c.947T= (p.Val316=) c.458T= (p.Val153=) | |
3 | g.93896690A>C | CA2503340 | PROS1 | c.851T>G (p.Val284Gly) c.806T>G (p.Val269Gly) n.1019T>G c.809T>G (p.Val270Gly) c.950T>G (n.950T>G) c.947T>G (p.Val316Gly) c.458T>G (p.Val153Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |