Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6224686A= | CA1607987833 | F13A1 | c.973T= (p.Phe325=) c.123T= c.1135T= (p.Phe379=) | |
6 | g.6224686A>C | CA362739851 | F13A1 | c.973T>G (p.Phe325Val) c.123T>G c.1135T>G (p.Phe379Val) | gnomAD v4 |
6 | g.6224686A>G | CA362739849 | F13A1 | c.973T>C (p.Phe325Leu) c.123T>C c.1135T>C (p.Phe379Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224686A>T | CA362739850 | F13A1 | c.973T>A (p.Phe325Ile) c.123T>A c.1135T>A (p.Phe379Ile) | |
6 | g.6224687T>A | CA448645789 | F13A1 | c.972A>T (p.Thr324=) c.122A>T c.1134A>T (p.Thr378=) | |
6 | g.6224687T>C | CA3624511 | F13A1 | c.972A>G (p.Thr324=) c.122A>G c.1134A>G (p.Thr378=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224687T>G | CA448645790 | F13A1 | c.972A>C (p.Thr324=) c.122A>C c.1134A>C (p.Thr378=) | |
6 | g.6224687T= | CA1607987834 | F13A1 | c.972A= (p.Thr324=) c.122A= c.1134A= (p.Thr378=) | |
6 | g.6224688G>A | CA362739852 | F13A1 | c.971C>T (p.Thr324Ile) c.121C>T c.1133C>T (p.Thr378Ile) | |
6 | g.6224688G>C | CA362739853 | F13A1 | c.971C>G (p.Thr324Arg) c.121C>G c.1133C>G (p.Thr378Arg) | |
6 | g.6224688G>T | CA362739854 | F13A1 | c.971C>A (p.Thr324Lys) c.121C>A c.1133C>A (p.Thr378Lys) | |
6 | g.6224689_6224703del | CA2513818928 | F13A1 | c.957_971del (p.Gly320_Thr324del) c.107_121del c.1119_1133del (p.Gly374_Thr378del) | gnomAD v4 |
6 | g.6224689T>A | CA362739855 | F13A1 | c.970A>T (p.Thr324Ser) c.120A>T c.1132A>T (p.Thr378Ser) | |
6 | g.6224689T>C | CA362739856 | F13A1 | c.970A>G (p.Thr324Ala) c.120A>G c.1132A>G (p.Thr378Ala) | |
6 | g.6224689T>G | CA362739857 | F13A1 | c.970A>C (p.Thr324Pro) c.120A>C c.1132A>C (p.Thr378Pro) | |
6 | g.6224690G>A | CA448645791 | F13A1 | c.969C>T (p.Asn323=) c.119C>T c.1131C>T (p.Asn377=) | dbSNP |
6 | g.6224690G>C | CA362739858 | F13A1 | c.969C>G (p.Asn323Lys) c.119C>G c.1131C>G (p.Asn377Lys) | |
6 | g.6224690G= | CA1607987835 | F13A1 | c.969C= (p.Asn323=) c.119C= c.1131C= (p.Asn377=) | |
6 | g.6224690G>T | CA362739859 | F13A1 | c.969C>A (p.Asn323Lys) c.119C>A c.1131C>A (p.Asn377Lys) | |
6 | g.6224691T>A | CA362739860 | F13A1 | c.968A>T (p.Asn323Ile) c.118A>T c.1130A>T (p.Asn377Ile) | |
6 | g.6224691T>C | CA362739861 | F13A1 | c.968A>G (p.Asn323Ser) c.118A>G c.1130A>G (p.Asn377Ser) | |
6 | g.6224691T>G | CA362739862 | F13A1 | c.968A>C (p.Asn323Thr) c.118A>C c.1130A>C (p.Asn377Thr) | |
6 | g.6224692T>A | CA362739864 | F13A1 | c.967A>T (p.Asn323Tyr) c.117A>T c.1129A>T (p.Asn377Tyr) | |
6 | g.6224692T>C | CA362739865 | F13A1 | c.967A>G (p.Asn323Asp) c.117A>G c.1129A>G (p.Asn377Asp) | |
6 | g.6224692T>G | CA362739863 | F13A1 | c.967A>C (p.Asn323His) c.117A>C c.1129A>C (p.Asn377His) | |
6 | g.6224693A>C | CA362739867 | F13A1 | c.966T>G (p.Phe322Leu) c.116T>G c.1128T>G (p.Phe376Leu) | |
6 | g.6224693A>G | CA448645792 | F13A1 | c.966T>C (p.Phe322=) c.116T>C c.1128T>C (p.Phe376=) | |
6 | g.6224693A>T | CA362739866 | F13A1 | c.966T>A (p.Phe322Leu) c.116T>A c.1128T>A (p.Phe376Leu) | |
6 | g.6224694A>C | CA362739870 | F13A1 | c.965T>G (p.Phe322Cys) c.115T>G c.1127T>G (p.Phe376Cys) | |
6 | g.6224694A>G | CA362739868 | F13A1 | c.965T>C (p.Phe322Ser) c.115T>C c.1127T>C (p.Phe376Ser) | |
6 | g.6224694A>T | CA362739869 | F13A1 | c.965T>A (p.Phe322Tyr) c.115T>A c.1127T>A (p.Phe376Tyr) | |
6 | g.6224695A>C | CA362739871 | F13A1 | c.964T>G (p.Phe322Val) c.114T>G c.1126T>G (p.Phe376Val) | |
6 | g.6224695A>G | CA362739872 | F13A1 | c.964T>C (p.Phe322Leu) c.114T>C c.1126T>C (p.Phe376Leu) | |
6 | g.6224695A>T | CA362739873 | F13A1 | c.964T>A (p.Phe322Ile) c.114T>A c.1126T>A (p.Phe376Ile) | |
6 | g.6224696G>A | CA448645793 | F13A1 | c.963C>T (p.Val321=) c.113C>T c.1125C>T (p.Val375=) | |
6 | g.6224696G>C | CA448645794 | F13A1 | c.963C>G (p.Val321=) c.113C>G c.1125C>G (p.Val375=) | |
6 | g.6224696G>T | CA448645795 | F13A1 | c.963C>A (p.Val321=) c.113C>A c.1125C>A (p.Val375=) | |
6 | g.6224697A= | CA1607987836 | F13A1 | c.962T= (p.Val321=) c.112T= c.1124T= (p.Val375=) | |
6 | g.6224697A>C | CA362739874 | F13A1 | c.962T>G (p.Val321Gly) c.112T>G c.1124T>G (p.Val375Gly) | |
6 | g.6224697A>G | CA362739875 | F13A1 | c.962T>C (p.Val321Ala) c.112T>C c.1124T>C (p.Val375Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6224697A>T | CA362739876 | F13A1 | c.962T>A (p.Val321Asp) c.112T>A c.1124T>A (p.Val375Asp) | |
6 | g.6224698C>A | CA362739877 | F13A1 | c.961G>T (p.Val321Phe) c.111G>T c.1123G>T (p.Val375Phe) | |
6 | g.6224698C>G | CA362739878 | F13A1 | c.961G>C (p.Val321Leu) c.111G>C c.1123G>C (p.Val375Leu) | |
6 | g.6224698C>T | CA362739879 | F13A1 | c.961G>A (p.Val321Ile) c.111G>A c.1123G>A (p.Val375Ile) | gnomAD v4 |
6 | g.6224699A>C | CA448645796 | F13A1 | c.960T>G (p.Gly320=) c.110T>G c.1122T>G (p.Gly374=) | |
6 | g.6224699A>G | CA448645797 | F13A1 | c.960T>C (p.Gly320=) c.110T>C c.1122T>C (p.Gly374=) | gnomAD v4 |
6 | g.6224699A>T | CA448645798 | F13A1 | c.960T>A (p.Gly320=) c.110T>A c.1122T>A (p.Gly374=) | |
6 | g.6224700C>A | CA362739882 | F13A1 | c.959G>T (p.Gly320Val) c.109G>T c.1121G>T (p.Gly374Val) | gnomAD v4 COSMIC |
6 | g.6224700C>G | CA362739880 | F13A1 | c.959G>C (p.Gly320Ala) c.109G>C c.1121G>C (p.Gly374Ala) | |
6 | g.6224700C>T | CA362739881 | F13A1 | c.959G>A (p.Gly320Asp) c.109G>A c.1121G>A (p.Gly374Asp) | gnomAD v4 |
6 | g.6224701C>A | CA362739883 | F13A1 | c.958G>T (p.Gly320Cys) c.108G>T c.1120G>T (p.Gly374Cys) | |
6 | g.6224701C>G | CA362739884 | F13A1 | c.958G>C (p.Gly320Arg) c.108G>C c.1120G>C (p.Gly374Arg) | |
6 | g.6224701C>T | CA362739885 | F13A1 | c.958G>A (p.Gly320Ser) c.108G>A c.1120G>A (p.Gly374Ser) | |
6 | g.6224702A= | CA1607987837 | F13A1 | c.957T= (p.Ala319=) c.107T= c.1119T= (p.Ala373=) | |
6 | g.6224702A>C | CA448645799 | F13A1 | c.957T>G (p.Ala319=) c.107T>G c.1119T>G (p.Ala373=) | |
6 | g.6224702A>G | CA448645800 | F13A1 | c.957T>C (p.Ala319=) c.107T>C c.1119T>C (p.Ala373=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6224702A>T | CA448645801 | F13A1 | c.957T>A (p.Ala319=) c.107T>A c.1119T>A (p.Ala373=) | |
6 | g.6224703G>A | CA362739886 | F13A1 | c.956C>T (p.Ala319Val) c.106C>T c.1118C>T (p.Ala373Val) | gnomAD v4 |
6 | g.6224703G>C | CA362739887 | F13A1 | c.956C>G (p.Ala319Gly) c.106C>G c.1118C>G (p.Ala373Gly) | |
6 | g.6224703G>T | CA362739888 | F13A1 | c.956C>A (p.Ala319Asp) c.106C>A c.1118C>A (p.Ala373Asp) | |
6 | g.6224704C>A | CA362739889 | F13A1 | c.955G>T (p.Ala319Ser) c.105G>T c.1117G>T (p.Ala373Ser) | gnomAD v4 COSMIC |
6 | g.6224704C>G | CA362739890 | F13A1 | c.955G>C (p.Ala319Pro) c.105G>C c.1117G>C (p.Ala373Pro) | |
6 | g.6224704C>T | CA362739891 | F13A1 | c.955G>A (p.Ala319Thr) c.105G>A c.1117G>A (p.Ala373Thr) | gnomAD v4 |
6 | g.6224705A>C | CA362739892 | F13A1 | c.954T>G (p.Phe318Leu) c.104T>G c.1116T>G (p.Phe372Leu) | |
6 | g.6224705A>G | CA448645802 | F13A1 | c.954T>C (p.Phe318=) c.104T>C c.1116T>C (p.Phe372=) | gnomAD v4 |
6 | g.6224705A>T | CA362739893 | F13A1 | c.954T>A (p.Phe318Leu) c.104T>A c.1116T>A (p.Phe372Leu) | |
6 | g.6224706A>C | CA362739895 | F13A1 | c.953T>G (p.Phe318Cys) c.103T>G c.1115T>G (p.Phe372Cys) | |
6 | g.6224706A>G | CA362739896 | F13A1 | c.953T>C (p.Phe318Ser) c.103T>C c.1115T>C (p.Phe372Ser) | |
6 | g.6224706A>T | CA362739894 | F13A1 | c.953T>A (p.Phe318Tyr) c.103T>A c.1115T>A (p.Phe372Tyr) | |
6 | g.6224707A>C | CA362739897 | F13A1 | c.952T>G (p.Phe318Val) c.102T>G c.1114T>G (p.Phe372Val) | |
6 | g.6224707A>G | CA362739898 | F13A1 | c.952T>C (p.Phe318Leu) c.102T>C c.1114T>C (p.Phe372Leu) | |
6 | g.6224707A>T | CA362739899 | F13A1 | c.952T>A (p.Phe318Ile) c.102T>A c.1114T>A (p.Phe372Ile) | |
6 | g.6224708A>C | CA448645803 | F13A1 | c.951T>G (p.Val317=) c.101T>G c.1113T>G (p.Val371=) | |
6 | g.6224708A>G | CA448645804 | F13A1 | c.951T>C (p.Val317=) c.101T>C c.1113T>C (p.Val371=) | |
6 | g.6224708A>T | CA448645805 | F13A1 | c.951T>A (p.Val317=) c.101T>A c.1113T>A (p.Val371=) | |
6 | g.6224709A>C | CA362739900 | F13A1 | c.950T>G (p.Val317Gly) c.100T>G c.1112T>G (p.Val371Gly) | |
6 | g.6224709A>G | CA362739901 | F13A1 | c.950T>C (p.Val317Ala) c.100T>C c.1112T>C (p.Val371Ala) | |
6 | g.6224709A>T | CA362739902 | F13A1 | c.950T>A (p.Val317Asp) c.100T>A c.1112T>A (p.Val371Asp) | gnomAD v4 |
6 | g.6224710C>A | CA126642 | F13A1 | c.949G>T (p.Val317Phe) c.99G>T c.1111G>T (p.Val371Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224710C= | CA1607987838 | F13A1 | c.949G= (p.Val317=) c.99G= c.1111G= (p.Val371=) | |
6 | g.6224710C>G | CA362739903 | F13A1 | c.949G>C (p.Val317Leu) c.99G>C c.1111G>C (p.Val371Leu) | |
6 | g.6224710C>T | CA362739904 | F13A1 | c.949G>A (p.Val317Ile) c.99G>A c.1111G>A (p.Val371Ile) | |
6 | g.6224711C>A | CA362739905 | F13A1 | c.948G>T (p.Trp316Cys) c.98G>T c.1110G>T (p.Trp370Cys) | |
6 | g.6224711C>G | CA362739906 | F13A1 | c.948G>C (p.Trp316Cys) c.98G>C c.1110G>C (p.Trp370Cys) | |
6 | g.6224711C>T | CA362739907 | F13A1 | c.948G>A (p.Trp316Ter) c.98G>A c.1110G>A (p.Trp370Ter) | gnomAD v4 |
6 | g.6224712C>A | CA362739910 | F13A1 | c.947G>T (p.Trp316Leu) c.97G>T c.1109G>T (p.Trp370Leu) | |
6 | g.6224712C>G | CA362739908 | F13A1 | c.947G>C (p.Trp316Ser) c.97G>C c.1109G>C (p.Trp370Ser) | |
6 | g.6224712C>T | CA362739909 | F13A1 | c.947G>A (p.Trp316Ter) c.97G>A c.1109G>A (p.Trp370Ter) | |
6 | g.6224713A>C | CA362739911 | F13A1 | c.946T>G (p.Trp316Gly) c.96T>G c.1108T>G (p.Trp370Gly) | |
6 | g.6224713A>G | CA362739912 | F13A1 | c.946T>C (p.Trp316Arg) c.96T>C c.1108T>C (p.Trp370Arg) | |
6 | g.6224713A>T | CA362739913 | F13A1 | c.946T>A (p.Trp316Arg) c.96T>A c.1108T>A (p.Trp370Arg) | |
6 | g.6224714G>A | CA134391466 | F13A1 | c.945C>T (p.Cys315=) c.95C>T c.1107C>T (p.Cys369=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6224714G>C | CA362739914 | F13A1 | c.945C>G (p.Cys315Trp) c.95C>G c.1107C>G (p.Cys369Trp) | |
6 | g.6224714G= | CA1607987839 | F13A1 | c.945C= (p.Cys315=) c.95C= c.1107C= (p.Cys369=) | |
6 | g.6224714G>T | CA362739915 | F13A1 | c.945C>A (p.Cys315Ter) c.95C>A c.1107C>A (p.Cys369Ter) | |
6 | g.6224715C>A | CA362739916 | F13A1 | c.944G>T (p.Cys315Phe) c.94G>T c.1106G>T (p.Cys369Phe) | |
6 | g.6224715C>G | CA362739917 | F13A1 | c.944G>C (p.Cys315Ser) c.94G>C c.1106G>C (p.Cys369Ser) | |
6 | g.6224715C>T | CA362739918 | F13A1 | c.944G>A (p.Cys315Tyr) c.94G>A c.1106G>A (p.Cys369Tyr) | |
6 | g.6224716A>C | CA362739919 | F13A1 | c.943T>G (p.Cys315Gly) c.93T>G c.1105T>G (p.Cys369Gly) | |
6 | g.6224716A>G | CA362739920 | F13A1 | c.943T>C (p.Cys315Arg) c.93T>C c.1105T>C (p.Cys369Arg) | |
6 | g.6224716A>T | CA362739921 | F13A1 | c.943T>A (p.Cys315Ser) c.93T>A c.1105T>A (p.Cys369Ser) | |
6 | g.6224717T>A | CA362739922 | F13A1 | c.942A>T (p.Gln314His) c.92A>T c.1104A>T (p.Gln368His) | |
6 | g.6224717T>C | CA448645806 | F13A1 | c.942A>G (p.Gln314=) c.92A>G c.1104A>G (p.Gln368=) | gnomAD v4 |
6 | g.6224717T>G | CA362739923 | F13A1 | c.942A>C (p.Gln314His) c.92A>C c.1104A>C (p.Gln368His) | |
6 | g.6224718T>A | CA362739925 | F13A1 | c.941A>T (p.Gln314Leu) c.91A>T c.1103A>T (p.Gln368Leu) | |
6 | g.6224718T>C | CA362739926 | F13A1 | c.941A>G (p.Gln314Arg) c.91A>G c.1103A>G (p.Gln368Arg) | |
6 | g.6224718T>G | CA362739924 | F13A1 | c.941A>C (p.Gln314Pro) c.91A>C c.1103A>C (p.Gln368Pro) | |
6 | g.6224719G>A | CA362739929 | F13A1 | c.940C>T (p.Gln314Ter) c.90C>T c.1102C>T (p.Gln368Ter) | |
6 | g.6224719G>C | CA362739927 | F13A1 | c.940C>G (p.Gln314Glu) c.90C>G c.1102C>G (p.Gln368Glu) | |
6 | g.6224719G>T | CA362739928 | F13A1 | c.940C>A (p.Gln314Lys) c.90C>A c.1102C>A (p.Gln368Lys) | |
6 | g.6224720_6224729del | CA2578522228 | F13A1 | c.931_940del (p.Arg311AsnfsTer?) c.81_90del c.1093_1102del (p.Arg365AsnfsTer?) | |
6 | g.6224720G>A | CA3624512 | F13A1 | c.939C>T (p.Gly313=) c.89C>T c.1101C>T (p.Gly367=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.6224720G>C | CA448645808 | F13A1 | c.939C>G (p.Gly313=) c.89C>G c.1101C>G (p.Gly367=) | gnomAD v4 |
6 | g.6224720G= | CA1607987840 | F13A1 | c.939C= (p.Gly313=) c.89C= c.1101C= (p.Gly367=) | |
6 | g.6224720G>T | CA448645807 | F13A1 | c.939C>A (p.Gly313=) c.89C>A c.1101C>A (p.Gly367=) | |
6 | g.6224721C>A | CA362739930 | F13A1 | c.938G>T (p.Gly313Val) c.88G>T c.1100G>T (p.Gly367Val) | |
6 | g.6224721C>G | CA362739931 | F13A1 | c.938G>C (p.Gly313Ala) c.88G>C c.1100G>C (p.Gly367Ala) | |
6 | g.6224721C>T | CA362739932 | F13A1 | c.938G>A (p.Gly313Asp) c.88G>A c.1100G>A (p.Gly367Asp) | COSMIC |
6 | g.6224722C>A | CA362739935 | F13A1 | c.937G>T (p.Gly313Cys) c.87G>T c.1099G>T (p.Gly367Cys) | |
6 | g.6224722C>G | CA362739933 | F13A1 | c.937G>C (p.Gly313Arg) c.87G>C c.1099G>C (p.Gly367Arg) | ClinVar |
6 | g.6224722C>T | CA362739934 | F13A1 | c.937G>A (p.Gly313Ser) c.87G>A c.1099G>A (p.Gly367Ser) | |
6 | g.6224723A>C | CA362739936 | F13A1 | c.936T>G (p.Tyr312Ter) c.86T>G c.1098T>G (p.Tyr366Ter) | gnomAD v4 |
6 | g.6224723A>G | CA448645809 | F13A1 | c.936T>C (p.Tyr312=) c.86T>C c.1098T>C (p.Tyr366=) | |
6 | g.6224723A>T | CA362739937 | F13A1 | c.936T>A (p.Tyr312Ter) c.86T>A c.1098T>A (p.Tyr366Ter) | |
6 | g.6224724T>A | CA362739938 | F13A1 | c.935A>T (p.Tyr312Phe) c.85A>T c.1097A>T (p.Tyr366Phe) | |
6 | g.6224724T>C | CA362739939 | F13A1 | c.935A>G (p.Tyr312Cys) c.85A>G c.1097A>G (p.Tyr366Cys) | gnomAD v4 |
6 | g.6224724T>G | CA362739940 | F13A1 | c.935A>C (p.Tyr312Ser) c.85A>C c.1097A>C (p.Tyr366Ser) | |
6 | g.6224725A>C | CA362739941 | F13A1 | c.934T>G (p.Tyr312Asp) c.84T>G c.1096T>G (p.Tyr366Asp) | |
6 | g.6224725A>G | CA362739943 | F13A1 | c.934T>C (p.Tyr312His) c.84T>C c.1096T>C (p.Tyr366His) | |
6 | g.6224725A>T | CA362739942 | F13A1 | c.934T>A (p.Tyr312Asn) c.84T>A c.1096T>A (p.Tyr366Asn) | |
6 | g.6224726C>A | CA448645810 | F13A1 | c.933G>T (p.Arg311=) c.83G>T c.1095G>T (p.Arg365=) | gnomAD v4 |
6 | g.6224726C= | CA1607987841 | F13A1 | c.933G= (p.Arg311=) c.83G= c.1095G= (p.Arg365=) | |
6 | g.6224726C>G | CA448645811 | F13A1 | c.933G>C (p.Arg311=) c.83G>C c.1095G>C (p.Arg365=) | |
6 | g.6224726C>T | CA448645812 | F13A1 | c.933G>A (p.Arg311=) c.83G>A c.1095G>A (p.Arg365=) | dbSNP gnomAD v4 COSMIC |
6 | g.6224727C>A | CA362739944 | F13A1 | c.932G>T (p.Arg311Leu) c.82G>T c.1094G>T (p.Arg365Leu) | gnomAD v4 COSMIC |
6 | g.6224727C= | CA1607987842 | F13A1 | c.932G= (p.Arg311=) c.82G= c.1094G= (p.Arg365=) | |
6 | g.6224727C>G | CA362739945 | F13A1 | c.932G>C (p.Arg311Pro) c.82G>C c.1094G>C (p.Arg365Pro) | |
6 | g.6224727C>T | CA134391467 | F13A1 | c.932G>A (p.Arg311Gln) c.82G>A c.1094G>A (p.Arg365Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224728G>A | CA134391468 | F13A1 | c.931C>T (p.Arg311Trp) c.81C>T c.1093C>T (p.Arg365Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224728G>C | CA362739946 | F13A1 | c.931C>G (p.Arg311Gly) c.81C>G c.1093C>G (p.Arg365Gly) | |
6 | g.6224728G= | CA1607987843 | F13A1 | c.931C= (p.Arg311=) c.81C= c.1093C= (p.Arg365=) | |
6 | g.6224728G>T | CA448645813 | F13A1 | c.931C>A (p.Arg311=) c.81C>A c.1093C>A (p.Arg365=) | |
6 | g.6224729G>A | CA134391469 | F13A1 | c.930C>T (p.Val310=) c.80C>T c.1092C>T (p.Val364=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224729G>C | CA448645814 | F13A1 | c.930C>G (p.Val310=) c.80C>G c.1092C>G (p.Val364=) | |
6 | g.6224729G= | CA1607987844 | F13A1 | c.930C= (p.Val310=) c.80C= c.1092C= (p.Val364=) | |
6 | g.6224729G>T | CA448645815 | F13A1 | c.930C>A (p.Val310=) c.80C>A c.1092C>A (p.Val364=) | gnomAD v4 COSMIC |
6 | g.6224730A>C | CA362739947 | F13A1 | c.929T>G (p.Val310Gly) c.79T>G c.1091T>G (p.Val364Gly) | |
6 | g.6224730A>G | CA362739948 | F13A1 | c.929T>C (p.Val310Ala) c.79T>C c.1091T>C (p.Val364Ala) | |
6 | g.6224730A>T | CA362739949 | F13A1 | c.929T>A (p.Val310Asp) c.79T>A c.1091T>A (p.Val364Asp) | |
6 | g.6224731C>A | CA362739950 | F13A1 | c.928G>T (p.Val310Phe) c.78G>T c.1090G>T (p.Val364Phe) | |
6 | g.6224731C>G | CA362739951 | F13A1 | c.928G>C (p.Val310Leu) c.78G>C c.1090G>C (p.Val364Leu) | |
6 | g.6224731C>T | CA362739952 | F13A1 | c.928G>A (p.Val310Ile) c.78G>A c.1090G>A (p.Val364Ile) | |
6 | g.6224732T>A | CA448645816 | F13A1 | c.927A>T (p.Pro309=) c.77A>T c.1089A>T (p.Pro363=) | |
6 | g.6224732T>C | CA448645817 | F13A1 | c.927A>G (p.Pro309=) c.77A>G c.1089A>G (p.Pro363=) | |
6 | g.6224732T>G | CA448645818 | F13A1 | c.927A>C (p.Pro309=) c.77A>C c.1089A>C (p.Pro363=) | |
6 | g.6224733G>A | CA362739955 | F13A1 | c.926C>T (p.Pro309Leu) c.76C>T c.1088C>T (p.Pro363Leu) | |
6 | g.6224733G>C | CA362739954 | F13A1 | c.926C>G (p.Pro309Arg) c.76C>G c.1088C>G (p.Pro363Arg) | |
6 | g.6224733G= | CA1607987845 | F13A1 | c.926C= (p.Pro309=) c.76C= c.1088C= (p.Pro363=) | |
6 | g.6224733G>T | CA362739953 | F13A1 | c.926C>A (p.Pro309Gln) c.76C>A c.1088C>A (p.Pro363Gln) | dbSNP |
6 | g.6224734G>A | CA362739956 | F13A1 | c.925C>T (p.Pro309Ser) c.75C>T c.1087C>T (p.Pro363Ser) | |
6 | g.6224734G>C | CA362739957 | F13A1 | c.925C>G (p.Pro309Ala) c.75C>G c.1087C>G (p.Pro363Ala) | |
6 | g.6224734G>T | CA362739958 | F13A1 | c.925C>A (p.Pro309Thr) c.75C>A c.1087C>A (p.Pro363Thr) | |
6 | g.6224735A>C | CA362739959 | F13A1 | c.924T>G (p.Asn308Lys) c.74T>G c.1086T>G (p.Asn362Lys) | |
6 | g.6224735A>G | CA448645819 | F13A1 | c.924T>C (p.Asn308=) c.74T>C c.1086T>C (p.Asn362=) | |
6 | g.6224735A>T | CA362739960 | F13A1 | c.924T>A (p.Asn308Lys) c.74T>A c.1086T>A (p.Asn362Lys) | |
6 | g.6224736T>A | CA362739961 | F13A1 | c.923A>T (p.Asn308Ile) c.73A>T c.1085A>T (p.Asn362Ile) | gnomAD v4 |
6 | g.6224736T>C | CA3624513 | F13A1 | c.923A>G (p.Asn308Ser) c.73A>G c.1085A>G (p.Asn362Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224736T>G | CA362739962 | F13A1 | c.923A>C (p.Asn308Thr) c.73A>C c.1085A>C (p.Asn362Thr) | |
6 | g.6224736T= | CA1607987846 | F13A1 | c.923A= (p.Asn308=) c.73A= c.1085A= (p.Asn362=) | |
6 | g.6224737T>A | CA362739963 | F13A1 | c.922A>T (p.Asn308Tyr) c.72A>T c.1084A>T (p.Asn362Tyr) | |
6 | g.6224737T>C | CA362739964 | F13A1 | c.922A>G (p.Asn308Asp) c.72A>G c.1084A>G (p.Asn362Asp) | |
6 | g.6224737T>G | CA362739965 | F13A1 | c.922A>C (p.Asn308His) c.72A>C c.1084A>C (p.Asn362His) | |
6 | g.6224738C>A | CA134391470 | F13A1 | c.921G>T (p.Glu307Asp) c.71G>T c.1083G>T (p.Glu361Asp) | dbSNP gnomAD v4 |
6 | g.6224738C= | CA1607987847 | F13A1 | c.921G= (p.Glu307=) c.71G= c.1083G= (p.Glu361=) | |
6 | g.6224738C>G | CA362739966 | F13A1 | c.921G>C (p.Glu307Asp) c.71G>C c.1083G>C (p.Glu361Asp) | |
6 | g.6224738C>T | CA448645820 | F13A1 | c.921G>A (p.Glu307=) c.71G>A c.1083G>A (p.Glu361=) | |
6 | g.6224739T>A | CA362739968 | F13A1 | c.920A>T (p.Glu307Val) c.70A>T c.1082A>T (p.Glu361Val) | |
6 | g.6224739T>C | CA362739969 | F13A1 | c.920A>G (p.Glu307Gly) c.70A>G c.1082A>G (p.Glu361Gly) | |
6 | g.6224739T>G | CA362739967 | F13A1 | c.920A>C (p.Glu307Ala) c.70A>C c.1082A>C (p.Glu361Ala) | gnomAD v4 |
6 | g.6224740C>A | CA362739970 | F13A1 | c.919G>T (p.Glu307Ter) c.69G>T c.1081G>T (p.Glu361Ter) | |
6 | g.6224740C= | CA1607987848 | F13A1 | c.919G= (p.Glu307=) c.69G= c.1081G= (p.Glu361=) | |
6 | g.6224740C>G | CA362739971 | F13A1 | c.919G>C (p.Glu307Gln) c.69G>C c.1081G>C (p.Glu361Gln) | |
6 | g.6224740C>T | CA362739972 | F13A1 | c.919G>A (p.Glu307Lys) c.69G>A c.1081G>A (p.Glu361Lys) | dbSNP gnomAD v4 |
6 | g.6224741A>C | CA448645821 | F13A1 | c.918T>G (p.Ser306=) c.68T>G c.1080T>G (p.Ser360=) | |
6 | g.6224741A>G | CA448645822 | F13A1 | c.918T>C (p.Ser306=) c.68T>C c.1080T>C (p.Ser360=) | |
6 | g.6224741A>T | CA448645823 | F13A1 | c.918T>A (p.Ser306=) c.68T>A c.1080T>A (p.Ser360=) | |
6 | g.6224743_6224744del | CA2578522229 | F13A1 | c.917_918del (p.Ser306Ter) c.67_68del c.1079_1080del (p.Ser360Ter) | |
6 | g.6224742G>A | CA362739973 | F13A1 | c.917C>T (p.Ser306Phe) c.67C>T c.1079C>T (p.Ser360Phe) | |
6 | g.6224742G>C | CA362739974 | F13A1 | c.917C>G (p.Ser306Cys) c.67C>G c.1079C>G (p.Ser360Cys) | |
6 | g.6224742G>T | CA362739975 | F13A1 | c.917C>A (p.Ser306Tyr) c.67C>A c.1079C>A (p.Ser360Tyr) | |
6 | g.6224743A>C | CA362739976 | F13A1 | c.916T>G (p.Ser306Ala) c.66T>G c.1078T>G (p.Ser360Ala) | |
6 | g.6224743A>G | CA362739978 | F13A1 | c.916T>C (p.Ser306Pro) c.66T>C c.1078T>C (p.Ser360Pro) | |
6 | g.6224743A>T | CA362739977 | F13A1 | c.916T>A (p.Ser306Thr) c.66T>A c.1078T>A (p.Ser360Thr) | |
6 | g.6224744G>A | CA448645824 | F13A1 | c.915C>T (p.Ser305=) c.65C>T c.1077C>T (p.Ser359=) | |
6 | g.6224744G>C | CA362739979 | F13A1 | c.915C>G (p.Ser305Arg) c.65C>G c.1077C>G (p.Ser359Arg) | |
6 | g.6224744G>T | CA362739980 | F13A1 | c.915C>A (p.Ser305Arg) c.65C>A c.1077C>A (p.Ser359Arg) | |
6 | g.6224744_6224746delinsGCT | CA1607987849 | F13A1 | c.913_915delinsAGC (p.Ser305=) c.63_65delinsAGC c.1075_1077delinsAGC (p.Ser359=) | |
6 | g.6224745C>A | CA362739981 | F13A1 | c.914G>T (p.Ser305Ile) c.64G>T c.1076G>T (p.Ser359Ile) | |
6 | g.6224745C= | CA1607987851 | F13A1 | c.914G= (p.Ser305=) c.64G= c.1076G= (p.Ser359=) | |
6 | g.6224745C>G | CA362739982 | F13A1 | c.914G>C (p.Ser305Thr) c.64G>C c.1076G>C (p.Ser359Thr) | |
6 | g.6224745C>T | CA362739983 | F13A1 | c.914G>A (p.Ser305Asn) c.64G>A c.1076G>A (p.Ser359Asn) | dbSNP gnomAD v2 |
6 | g.6224746_6224747del | CA1607987850 | F13A1 | c.913_914del (p.Ser305LeufsTer2) c.63_64del c.1075_1076del (p.Ser359LeufsTer2) | dbSNP |
6 | g.6224746T>A | CA362739985 | F13A1 | c.913A>T (p.Ser305Cys) c.63A>T c.1075A>T (p.Ser359Cys) | |
6 | g.6224746T>C | CA362739986 | F13A1 | c.913A>G (p.Ser305Gly) c.63A>G c.1075A>G (p.Ser359Gly) | |
6 | g.6224746T>G | CA362739984 | F13A1 | c.913A>C (p.Ser305Arg) c.63A>C c.1075A>C (p.Ser359Arg) | |
6 | g.6224747C>A | CA448645825 | F13A1 | c.912G>T (p.Arg304=) c.62G>T c.1074G>T (p.Arg358=) | |
6 | g.6224747C>G | CA448645827 | F13A1 | c.912G>C (p.Arg304=) c.62G>C c.1074G>C (p.Arg358=) | |
6 | g.6224747C>T | CA448645826 | F13A1 | c.912G>A (p.Arg304=) c.62G>A c.1074G>A (p.Arg358=) | |
6 | g.6224748C>A | CA362739987 | F13A1 | c.911G>T (p.Arg304Leu) c.61G>T c.1073G>T (p.Arg358Leu) | |
6 | g.6224748C= | CA1607987852 | F13A1 | c.911G= (p.Arg304=) c.61G= c.1073G= (p.Arg358=) | |
6 | g.6224748C>G | CA362739988 | F13A1 | c.911G>C (p.Arg304Pro) c.61G>C c.1073G>C (p.Arg358Pro) | |
6 | g.6224748C>T | CA3624514 | F13A1 | c.911G>A (p.Arg304Gln) c.61G>A c.1073G>A (p.Arg358Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224749G>A | CA3624515 | F13A1 | c.910C>T (p.Arg304Trp) c.60C>T c.1072C>T (p.Arg358Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224749G>C | CA362739989 | F13A1 | c.910C>G (p.Arg304Gly) c.60C>G c.1072C>G (p.Arg358Gly) | |
6 | g.6224749G= | CA1607987853 | F13A1 | c.910C= (p.Arg304=) c.60C= c.1072C= (p.Arg358=) | |
6 | g.6224749G>T | CA448645828 | F13A1 | c.910C>A (p.Arg304=) c.60C>A c.1072C>A (p.Arg358=) | |
6 | g.6224750G>A | CA448645829 | F13A1 | c.909C>T (p.Tyr303=) c.59C>T c.1071C>T (p.Tyr357=) | |
6 | g.6224750G>C | CA362739990 | F13A1 | c.909C>G (p.Tyr303Ter) c.59C>G c.1071C>G (p.Tyr357Ter) | |
6 | g.6224750G>T | CA362739991 | F13A1 | c.909C>A (p.Tyr303Ter) c.59C>A c.1071C>A (p.Tyr357Ter) | |
6 | g.6224751T>A | CA362739992 | F13A1 | c.908A>T (p.Tyr303Phe) c.58A>T c.1070A>T (p.Tyr357Phe) | |
6 | g.6224751T>C | CA362739993 | F13A1 | c.908A>G (p.Tyr303Cys) c.58A>G c.1070A>G (p.Tyr357Cys) | |
6 | g.6224751T>G | CA362739994 | F13A1 | c.908A>C (p.Tyr303Ser) c.58A>C c.1070A>C (p.Tyr357Ser) | |
6 | g.6224752A= | CA1607987854 | F13A1 | c.907T= (p.Tyr303=) c.57T= c.1069T= (p.Tyr357=) | |
6 | g.6224752A>C | CA362739995 | F13A1 | c.907T>G (p.Tyr303Asp) c.57T>G c.1069T>G (p.Tyr357Asp) | |
6 | g.6224752A>G | CA134391471 | F13A1 | c.907T>C (p.Tyr303His) c.57T>C c.1069T>C (p.Tyr357His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224752A>T | CA362739996 | F13A1 | c.907T>A (p.Tyr303Asn) c.57T>A c.1069T>A (p.Tyr357Asn) | gnomAD v4 |
6 | g.6224753T>A | CA362739998 | F13A1 | c.906A>T (p.Glu302Asp) c.56A>T c.1068A>T (p.Glu356Asp) | |
6 | g.6224753T>C | CA448645830 | F13A1 | c.906A>G (p.Glu302=) c.56A>G c.1068A>G (p.Glu356=) | |
6 | g.6224753T>G | CA362739997 | F13A1 | c.906A>C (p.Glu302Asp) c.56A>C c.1068A>C (p.Glu356Asp) | |
6 | g.6224754T>A | CA362739999 | F13A1 | c.905A>T (p.Glu302Val) c.55A>T c.1067A>T (p.Glu356Val) | |
6 | g.6224754T>C | CA362740000 | F13A1 | c.905A>G (p.Glu302Gly) c.55A>G c.1067A>G (p.Glu356Gly) | |
6 | g.6224754T>G | CA362740001 | F13A1 | c.905A>C (p.Glu302Ala) c.55A>C c.1067A>C (p.Glu356Ala) | |
6 | g.6224755C>A | CA362740002 | F13A1 | c.904G>T (p.Glu302Ter) c.54G>T c.1066G>T (p.Glu356Ter) | |
6 | g.6224755C>G | CA362740003 | F13A1 | c.904G>C (p.Glu302Gln) c.54G>C c.1066G>C (p.Glu356Gln) | |
6 | g.6224755C>T | CA362740004 | F13A1 | c.904G>A (p.Glu302Lys) c.54G>A c.1066G>A (p.Glu356Lys) | |
6 | g.6224756C>A | CA362740006 | F13A1 | c.903G>T (p.Leu301Phe) c.53G>T c.1065G>T (p.Leu355Phe) | dbSNP |
6 | g.6224756C= | CA1607987855 | F13A1 | c.903G= (p.Leu301=) c.53G= c.1065G= (p.Leu355=) | |
6 | g.6224756C>G | CA362740005 | F13A1 | c.903G>C (p.Leu301Phe) c.53G>C c.1065G>C (p.Leu355Phe) | |
6 | g.6224756C>T | CA448645831 | F13A1 | c.903G>A (p.Leu301=) c.53G>A c.1065G>A (p.Leu355=) | COSMIC |
6 | g.6224757A>C | CA362740007 | F13A1 | c.902T>G (p.Leu301Trp) c.52T>G c.1064T>G (p.Leu355Trp) | |
6 | g.6224757A>G | CA362740008 | F13A1 | c.902T>C (p.Leu301Ser) c.52T>C c.1064T>C (p.Leu355Ser) | |
6 | g.6224757A>T | CA362740009 | F13A1 | c.902T>A (p.Leu301Ter) c.52T>A c.1064T>A (p.Leu355Ter) | |
6 | g.6224758A>C | CA362740010 | F13A1 | c.901T>G (p.Leu301Val) c.51T>G c.1063T>G (p.Leu355Val) | |
6 | g.6224758A>G | CA448645832 | F13A1 | c.901T>C (p.Leu301=) c.51T>C c.1063T>C (p.Leu355=) | |
6 | g.6224758A>T | CA362740011 | F13A1 | c.901T>A (p.Leu301Met) c.51T>A c.1063T>A (p.Leu355Met) | gnomAD v4 |
6 | g.6224759T>A | CA448645833 | F13A1 | c.900A>T (p.Leu300=) c.50A>T c.1062A>T (p.Leu354=) | dbSNP |
6 | g.6224759T>C | CA3624516 | F13A1 | c.900A>G (p.Leu300=) c.50A>G c.1062A>G (p.Leu354=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.6224759T>G | CA448645834 | F13A1 | c.900A>C (p.Leu300=) c.50A>C c.1062A>C (p.Leu354=) | |
6 | g.6224759T= | CA1607987856 | F13A1 | c.900A= (p.Leu300=) c.50A= c.1062A= (p.Leu354=) | |
6 | g.6224760A>C | CA362740014 | F13A1 | c.899T>G (p.Leu300Arg) c.49T>G c.1061T>G (p.Leu354Arg) | |
6 | g.6224760A>G | CA362740012 | F13A1 | c.899T>C (p.Leu300Pro) c.49T>C c.1061T>C (p.Leu354Pro) | |
6 | g.6224760A>T | CA362740013 | F13A1 | c.899T>A (p.Leu300Gln) c.49T>A c.1061T>A (p.Leu354Gln) | |
6 | g.6224761G>A | CA448645835 | F13A1 | c.898C>T (p.Leu300=) c.48C>T c.1060C>T (p.Leu354=) | COSMIC |
6 | g.6224761G>C | CA362740015 | F13A1 | c.898C>G (p.Leu300Val) c.48C>G c.1060C>G (p.Leu354Val) | |
6 | g.6224761G>T | CA362740016 | F13A1 | c.898C>A (p.Leu300Ile) c.48C>A c.1060C>A (p.Leu354Ile) | |
6 | g.6224762A>C | CA362740017 | F13A1 | c.897T>G (p.Ile299Met) c.47T>G c.1059T>G (p.Ile353Met) | |
6 | g.6224762A>G | CA448645836 | F13A1 | c.897T>C (p.Ile299=) c.47T>C c.1059T>C (p.Ile353=) | |
6 | g.6224762A>T | CA448645837 | F13A1 | c.897T>A (p.Ile299=) c.47T>A c.1059T>A (p.Ile353=) | |
6 | g.6224763A>C | CA362740018 | F13A1 | c.896T>G (p.Ile299Ser) c.46T>G c.1058T>G (p.Ile353Ser) | |
6 | g.6224763A>G | CA362740019 | F13A1 | c.896T>C (p.Ile299Thr) c.46T>C c.1058T>C (p.Ile353Thr) | |
6 | g.6224763A>T | CA362740020 | F13A1 | c.896T>A (p.Ile299Asn) c.46T>A c.1058T>A (p.Ile353Asn) | |
6 | g.6224764T>A | CA362740023 | F13A1 | c.895A>T (p.Ile299Phe) c.45A>T c.1057A>T (p.Ile353Phe) | |
6 | g.6224764T>C | CA362740021 | F13A1 | c.895A>G (p.Ile299Val) c.45A>G c.1057A>G (p.Ile353Val) | |
6 | g.6224764T>G | CA362740022 | F13A1 | c.895A>C (p.Ile299Leu) c.45A>C c.1057A>C (p.Ile353Leu) | |
6 | g.6224765G>A | CA448645838 | F13A1 | c.894C>T (p.Asp298=) c.44C>T c.1056C>T (p.Asp352=) | |
6 | g.6224765G>C | CA362740024 | F13A1 | c.894C>G (p.Asp298Glu) c.44C>G c.1056C>G (p.Asp352Glu) | |
6 | g.6224765G>T | CA362740025 | F13A1 | c.894C>A (p.Asp298Glu) c.44C>A c.1056C>A (p.Asp352Glu) | |
6 | g.6224765_6224767delinsGTC | CA1607987857 | F13A1 | c.892_894delinsGAC (p.Asp298=) c.42_44delinsGAC c.1054_1056delinsGAC (p.Asp352=) | |
6 | g.6224766T>A | CA362740026 | F13A1 | c.893A>T (p.Asp298Val) c.43A>T c.1055A>T (p.Asp352Val) | |
6 | g.6224766T>C | CA362740027 | F13A1 | c.893A>G (p.Asp298Gly) c.43A>G c.1055A>G (p.Asp352Gly) | |
6 | g.6224766T>G | CA362740028 | F13A1 | c.893A>C (p.Asp298Ala) c.43A>C c.1055A>C (p.Asp352Ala) | |
6 | g.6224766_6224767del | CA565299735 | F13A1 | c.892_893del (p.Asp298HisfsTer9) c.42_43del c.1054_1055del (p.Asp352HisfsTer9) | dbSNP gnomAD v2 |
6 | g.6224767C>A | CA362740030 | F13A1 | c.892G>T (p.Asp298Tyr) c.42G>T c.1054G>T (p.Asp352Tyr) | |
6 | g.6224767C= | CA1607987858 | F13A1 | c.892G= (p.Asp298=) c.42G= c.1054G= (p.Asp352=) | |
6 | g.6224767C>G | CA362740029 | F13A1 | c.892G>C (p.Asp298His) c.42G>C c.1054G>C (p.Asp352His) | |
6 | g.6224767C>T | CA3624517 | F13A1 | c.892G>A (p.Asp298Asn) c.42G>A c.1054G>A (p.Asp352Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224768A= | CA1607987859 | F13A1 | c.891T= (p.Val297=) c.41T= c.1053T= (p.Val351=) | |
6 | g.6224768A>C | CA448645839 | F13A1 | c.891T>G (p.Val297=) c.41T>G c.1053T>G (p.Val351=) | |
6 | g.6224768A>G | CA448645840 | F13A1 | c.891T>C (p.Val297=) c.41T>C c.1053T>C (p.Val351=) | dbSNP gnomAD v2 |
6 | g.6224768A>T | CA448645841 | F13A1 | c.891T>A (p.Val297=) c.41T>A c.1053T>A (p.Val351=) | |
6 | g.6224769A= | CA1607987860 | F13A1 | c.890T= (p.Val297=) c.40T= c.1052T= (p.Val351=) | |
6 | g.6224769A>C | CA362740031 | F13A1 | c.890T>G (p.Val297Gly) c.40T>G c.1052T>G (p.Val351Gly) | dbSNP |
6 | g.6224769A>G | CA362740032 | F13A1 | c.890T>C (p.Val297Ala) c.40T>C c.1052T>C (p.Val351Ala) | gnomAD v4 |
6 | g.6224769A>T | CA362740033 | F13A1 | c.890T>A (p.Val297Asp) c.40T>A c.1052T>A (p.Val351Asp) | |
6 | g.6224770C>A | CA362740034 | F13A1 | c.889G>T (p.Val297Phe) c.39G>T c.1051G>T (p.Val351Phe) | |
6 | g.6224770C= | CA1607987861 | F13A1 | c.889G= (p.Val297=) c.39G= c.1051G= (p.Val351=) | |
6 | g.6224770C>G | CA362740035 | F13A1 | c.889G>C (p.Val297Leu) c.39G>C c.1051G>C (p.Val351Leu) | |
6 | g.6224770C>T | CA3624518 | F13A1 | c.889G>A (p.Val297Ile) c.39G>A c.1051G>A (p.Val351Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224770_6224771insTG | CA565299749 | F13A1 | c.888_889insCA (p.Val297GlnfsTer?) c.38_39insCA c.1050_1051insCA (p.Val351GlnfsTer?) | dbSNP gnomAD v2 |
6 | g.6224771G>A | CA3624519 | F13A1 | c.888C>T (p.Ser296=) c.38C>T c.1050C>T (p.Ser350=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224771G>C | CA362740036 | F13A1 | c.888C>G (p.Ser296Arg) c.38C>G c.1050C>G (p.Ser350Arg) | ClinVar dbSNP |
6 | g.6224771G= | CA1607987862 | F13A1 | c.888C= (p.Ser296=) c.38C= c.1050C= (p.Ser350=) | |
6 | g.6224771G>T | CA362740037 | F13A1 | c.888C>A (p.Ser296Arg) c.38C>A c.1050C>A (p.Ser350Arg) | gnomAD v4 |
6 | g.6224772C>A | CA362740038 | F13A1 | c.887G>T (p.Ser296Ile) c.37G>T c.1049G>T (p.Ser350Ile) | |
6 | g.6224772C= | CA1607987863 | F13A1 | c.887G= (p.Ser296=) c.37G= c.1049G= (p.Ser350=) | |
6 | g.6224772C>G | CA362740039 | F13A1 | c.887G>C (p.Ser296Thr) c.37G>C c.1049G>C (p.Ser350Thr) | |
6 | g.6224772C>T | CA3624520 | F13A1 | c.887G>A (p.Ser296Asn) c.37G>A c.1049G>A (p.Ser350Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224773T>A | CA362740042 | F13A1 | c.886A>T (p.Ser296Cys) c.36A>T c.1048A>T (p.Ser350Cys) | |
6 | g.6224773T>C | CA362740040 | F13A1 | c.886A>G (p.Ser296Gly) c.36A>G c.1048A>G (p.Ser350Gly) | |
6 | g.6224773T>G | CA362740041 | F13A1 | c.886A>C (p.Ser296Arg) c.36A>C c.1048A>C (p.Ser350Arg) | |
6 | g.6224774T>A | CA448645842 | F13A1 | c.885A>T (p.Gly295=) c.35A>T c.1047A>T (p.Gly349=) | |
6 | g.6224774T>C | CA448645843 | F13A1 | c.885A>G (p.Gly295=) c.35A>G c.1047A>G (p.Gly349=) | |
6 | g.6224774T>G | CA448645844 | F13A1 | c.885A>C (p.Gly295=) c.35A>C c.1047A>C (p.Gly349=) | |
6 | g.6224775C>A | CA362740043 | F13A1 | c.884G>T (p.Gly295Val) c.34G>T c.1046G>T (p.Gly349Val) | |
6 | g.6224775C>G | CA362740045 | F13A1 | c.884G>C (p.Gly295Ala) c.34G>C c.1046G>C (p.Gly349Ala) | |
6 | g.6224775C>T | CA362740044 | F13A1 | c.884G>A (p.Gly295Glu) c.34G>A c.1046G>A (p.Gly349Glu) | |
6 | g.6224776C>A | CA362740046 | F13A1 | c.883G>T (p.Gly295Ter) c.33G>T c.1045G>T (p.Gly349Ter) | |
6 | g.6224776C>G | CA362740047 | F13A1 | c.883G>C (p.Gly295Arg) c.33G>C c.1045G>C (p.Gly349Arg) | |
6 | g.6224776C>T | CA362740048 | F13A1 | c.883G>A (p.Gly295Arg) c.33G>A c.1045G>A (p.Gly349Arg) | |
6 | g.6224777A= | CA1607987864 | F13A1 | c.882T= (p.Thr294=) c.32T= c.1044T= (p.Thr348=) | |
6 | g.6224777A>C | CA448645846 | F13A1 | c.882T>G (p.Thr294=) c.32T>G c.1044T>G (p.Thr348=) | COSMIC |
6 | g.6224777A>G | CA3624521 | F13A1 | c.882T>C (p.Thr294=) c.32T>C c.1044T>C (p.Thr348=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224777A>T | CA448645845 | F13A1 | c.882T>A (p.Thr294=) c.32T>A c.1044T>A (p.Thr348=) | |
6 | g.6224778G>A | CA362740049 | F13A1 | c.881C>T (p.Thr294Ile) c.31C>T c.1043C>T (p.Thr348Ile) | |
6 | g.6224778G>C | CA362740050 | F13A1 | c.881C>G (p.Thr294Ser) c.31C>G c.1043C>G (p.Thr348Ser) | |
6 | g.6224778G>T | CA362740051 | F13A1 | c.881C>A (p.Thr294Asn) c.31C>A c.1043C>A (p.Thr348Asn) | COSMIC |
6 | g.6224779T>A | CA362740052 | F13A1 | c.880A>T (p.Thr294Ser) c.30A>T c.1042A>T (p.Thr348Ser) | |
6 | g.6224779T>C | CA362740053 | F13A1 | c.880A>G (p.Thr294Ala) c.30A>G c.1042A>G (p.Thr348Ala) | |
6 | g.6224779T>G | CA362740054 | F13A1 | c.880A>C (p.Thr294Pro) c.30A>C c.1042A>C (p.Thr348Pro) | |
6 | g.6224780C>A | CA362740055 | F13A1 | c.879G>T (p.Trp293Cys) c.29G>T c.1041G>T (p.Trp347Cys) | |
6 | g.6224780C>G | CA362740056 | F13A1 | c.879G>C (p.Trp293Cys) c.29G>C c.1041G>C (p.Trp347Cys) | |
6 | g.6224780C>T | CA362740057 | F13A1 | c.879G>A (p.Trp293Ter) c.29G>A c.1041G>A (p.Trp347Ter) | gnomAD v4 |
6 | g.6224781C>A | CA362740058 | F13A1 | c.878G>T (p.Trp293Leu) c.28G>T c.1040G>T (p.Trp347Leu) | |
6 | g.6224781C>G | CA362740060 | F13A1 | c.878G>C (p.Trp293Ser) c.28G>C c.1040G>C (p.Trp347Ser) | |
6 | g.6224781C>T | CA362740059 | F13A1 | c.878G>A (p.Trp293Ter) c.28G>A c.1040G>A (p.Trp347Ter) | gnomAD v4 |
6 | g.6224782A>C | CA362740061 | F13A1 | c.877T>G (p.Trp293Gly) c.27T>G c.1039T>G (p.Trp347Gly) | |
6 | g.6224782A>G | CA362740062 | F13A1 | c.877T>C (p.Trp293Arg) c.27T>C c.1039T>C (p.Trp347Arg) | |
6 | g.6224782A>T | CA362740063 | F13A1 | c.877T>A (p.Trp293Arg) c.27T>A c.1039T>A (p.Trp347Arg) | |
6 | g.6224783G>A | CA448645847 | F13A1 | c.876C>T (p.Ala292=) c.26C>T c.1038C>T (p.Ala346=) | COSMIC |
6 | g.6224783G>C | CA448645849 | F13A1 | c.876C>G (p.Ala292=) c.26C>G c.1038C>G (p.Ala346=) | |
6 | g.6224783G>T | CA448645848 | F13A1 | c.876C>A (p.Ala292=) c.26C>A c.1038C>A (p.Ala346=) | |
6 | g.6224784G>A | CA362740064 | F13A1 | c.875C>T (p.Ala292Val) c.25C>T c.1037C>T (p.Ala346Val) | gnomAD v4 |
6 | g.6224784G>C | CA362740065 | F13A1 | c.875C>G (p.Ala292Gly) c.25C>G c.1037C>G (p.Ala346Gly) | |
6 | g.6224784G>T | CA362740066 | F13A1 | c.875C>A (p.Ala292Asp) c.25C>A c.1037C>A (p.Ala346Asp) | |
6 | g.6224785C>A | CA362740067 | F13A1 | c.874G>T (p.Ala292Ser) c.24G>T c.1036G>T (p.Ala346Ser) | |
6 | g.6224785C>G | CA362740068 | F13A1 | c.874G>C (p.Ala292Pro) c.24G>C c.1036G>C (p.Ala346Pro) | |
6 | g.6224785C>T | CA362740069 | F13A1 | c.874G>A (p.Ala292Thr) c.24G>A c.1036G>A (p.Ala346Thr) | gnomAD v4 |
6 | g.6224786dup | CA2695205939 | F13A1 | c.874dup (p.Ala292GlyfsTer7) c.24dup c.1036dup (p.Ala346GlyfsTer7) | |
6 | g.6224786C>A | CA448645850 | F13A1 | c.873G>T (p.Ser291=) c.23G>T c.1035G>T (p.Ser345=) | |
6 | g.6224786C= | CA1607987865 | F13A1 | c.873G= (p.Ser291=) c.23G= c.1035G= (p.Ser345=) | |
6 | g.6224786C>G | CA448645851 | F13A1 | c.873G>C (p.Ser291=) c.23G>C c.1035G>C (p.Ser345=) | gnomAD v4 |
6 | g.6224786C>T | CA3624522 | F13A1 | c.873G>A (p.Ser291=) c.23G>A c.1035G>A (p.Ser345=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |