Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |