Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1985898G>A | CA7826073 | GFER | c.263G>A (p.Arg88Gln) c.488G>A (p.Arg163Gln) n.645G>A c.291G>A (p.Pro97=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985898G>C | CA394303883 | GFER | c.263G>C (p.Arg88Pro) c.488G>C (p.Arg163Pro) n.645G>C c.291G>C (p.Pro97=) | gnomAD v4 |
16 | g.1985898G= | CA2201967715 | GFER | c.263G= (p.Arg88=) c.488G= (p.Arg163=) n.645G= c.291G= (p.Pro97=) | |
16 | g.1985898G>T | CA394303889 | GFER | c.263G>T (p.Arg88Leu) c.488G>T (p.Arg163Leu) n.645G>T c.291G>T (p.Pro97=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985899G>A | CA394303900 | GFER | c.264G>A (p.Arg88=) c.489G>A (p.Arg163=) n.646G>A c.292G>A (p.Gly98Ser) | |
16 | g.1985899G>C | CA394303896 | GFER | c.264G>C (p.Arg88=) c.489G>C (p.Arg163=) n.646G>C c.292G>C (p.Gly98Arg) | |
16 | g.1985899G>T | CA394303894 | GFER | c.264G>T (p.Arg88=) c.489G>T (p.Arg163=) n.646G>T c.292G>T (p.Gly98Cys) | |
16 | g.1985900G>A | CA394303906 | GFER | c.265G>A (p.Ala89Thr) c.490G>A (p.Ala164Thr) n.647G>A c.293G>A (p.Gly98Asp) | |
16 | g.1985900G>C | CA394303908 | GFER | c.265G>C (p.Ala89Pro) c.490G>C (p.Ala164Pro) n.647G>C c.293G>C (p.Gly98Ala) | |
16 | g.1985900G>T | CA394303910 | GFER | c.265G>T (p.Ala89Ser) c.490G>T (p.Ala164Ser) n.647G>T c.293G>T (p.Gly98Val) | |
16 | g.1985901C>A | CA394303911 | GFER | c.266C>A (p.Ala89Glu) c.491C>A (p.Ala164Glu) n.648C>A c.294C>A (p.Gly98=) | |
16 | g.1985901C= | CA2201967717 | GFER | c.266C= (p.Ala89=) c.491C= (p.Ala164=) n.648C= c.294C= (p.Gly98=) | |
16 | g.1985901C>G | CA394303913 | GFER | c.266C>G (p.Ala89Gly) c.491C>G (p.Ala164Gly) n.648C>G c.294C>G (p.Gly98=) | |
16 | g.1985901C>T | CA394303917 | GFER | c.266C>T (p.Ala89Val) c.491C>T (p.Ala164Val) n.648C>T c.294C>T (p.Gly98=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985902A>C | CA394303926 | GFER | c.267A>C (p.Ala89=) c.492A>C (p.Ala164=) n.649A>C c.295A>C (p.Met99Leu) | dbSNP |
16 | g.1985902A>G | CA394303919 | GFER | c.267A>G (p.Ala89=) c.492A>G (p.Ala164=) n.649A>G c.295A>G (p.Met99Val) | |
16 | g.1985902A>T | CA394303921 | GFER | c.267A>T (p.Ala89=) c.492A>T (p.Ala164=) n.649A>T c.295A>T (p.Met99Leu) | |
16 | g.1985903T>A | CA394303928 | GFER | c.268T>A (p.Cys90Ser) c.493T>A (p.Cys165Ser) n.650T>A c.296T>A (p.Met99Lys) | |
16 | g.1985903T>C | CA394303930 | GFER | c.268T>C (p.Cys90Arg) c.493T>C (p.Cys165Arg) n.650T>C c.296T>C (p.Met99Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985903T>G | CA394303932 | GFER | c.268T>G (p.Cys90Gly) c.493T>G (p.Cys165Gly) n.650T>G c.296T>G (p.Met99Arg) | |
16 | g.1985903T= | CA2201967719 | GFER | c.268T= (p.Cys90=) c.493T= (p.Cys165=) n.650T= c.296T= (p.Met99=) | |
16 | g.1985904G>A | CA394303938 | GFER | c.269G>A (p.Cys90Tyr) c.494G>A (p.Cys165Tyr) n.651G>A c.297G>A (p.Met99Ile) | |
16 | g.1985904G>C | CA394303940 | GFER | c.269G>C (p.Cys90Ser) c.494G>C (p.Cys165Ser) n.651G>C c.297G>C (p.Met99Ile) | |
16 | g.1985904G>T | CA394303943 | GFER | c.269G>T (p.Cys90Phe) c.494G>T (p.Cys165Phe) n.651G>T c.297G>T (p.Met99Ile) | |
16 | g.1985905C>A | CA394303947 | GFER | c.270C>A (p.Cys90Ter) c.495C>A (p.Cys165Ter) n.652C>A c.298C>A (p.Leu100Ile) | |
16 | g.1985905C= | CA2201967721 | GFER | c.270C= (p.Cys90=) c.495C= (p.Cys165=) n.652C= c.298C= (p.Leu100=) | |
16 | g.1985905C>G | CA394303948 | GFER | c.270C>G (p.Cys90Trp) c.495C>G (p.Cys165Trp) n.652C>G c.298C>G (p.Leu100Val) | |
16 | g.1985905C>T | CA394303950 | GFER | c.270C>T (p.Cys90=) c.495C>T (p.Cys165=) n.652C>T c.298C>T (p.Leu100Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985906T>A | CA394303952 | GFER | c.271T>A (p.Phe91Ile) c.496T>A (p.Phe166Ile) n.653T>A c.299T>A (p.Leu100His) | |
16 | g.1985906T>C | CA7826074 | GFER | c.271T>C (p.Phe91Leu) c.496T>C (p.Phe166Leu) n.653T>C c.299T>C (p.Leu100Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985906T>G | CA394303957 | GFER | c.271T>G (p.Phe91Val) c.496T>G (p.Phe166Val) n.653T>G c.299T>G (p.Leu100Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985906T= | CA2201967723 | GFER | c.271T= (p.Phe91=) c.496T= (p.Phe166=) n.653T= c.299T= (p.Leu100=) | |
16 | g.1985907T>A | CA394303958 | GFER | c.272T>A (p.Phe91Tyr) c.497T>A (p.Phe166Tyr) n.654T>A c.300T>A (p.Leu100=) | |
16 | g.1985907T>C | CA394303960 | GFER | c.272T>C (p.Phe91Ser) c.497T>C (p.Phe166Ser) n.654T>C c.300T>C (p.Leu100=) | |
16 | g.1985907T>G | CA394303959 | GFER | c.272T>G (p.Phe91Cys) c.497T>G (p.Phe166Cys) n.654T>G c.300T>G (p.Leu100=) | |
16 | g.1985908C>A | CA394303962 | GFER | c.273C>A (p.Phe91Leu) c.498C>A (p.Phe166Leu) n.655C>A c.301C>A (p.His101Asn) | |
16 | g.1985908C>G | CA394303964 | GFER | c.273C>G (p.Phe91Leu) c.498C>G (p.Phe166Leu) n.655C>G c.301C>G (p.His101Asp) | |
16 | g.1985908C>T | CA394303966 | GFER | c.273C>T (p.Phe91=) c.498C>T (p.Phe166=) n.655C>T c.301C>T (p.His101Tyr) | |
16 | g.1985909A>C | CA394303968 | GFER | c.274A>C (p.Thr92Pro) c.499A>C (p.Thr167Pro) n.656A>C c.302A>C (p.His101Pro) | |
16 | g.1985909A>G | CA394303970 | GFER | c.274A>G (p.Thr92Ala) c.499A>G (p.Thr167Ala) n.656A>G c.302A>G (p.His101Arg) | |
16 | g.1985909A>T | CA394303972 | GFER | c.274A>T (p.Thr92Ser) c.499A>T (p.Thr167Ser) n.656A>T c.302A>T (p.His101Leu) | |
16 | g.1985909dup | CA2631092443 | GFER | c.274dup (p.Thr92AsnfsTer10) c.499dup (p.Thr167AsnfsTer10) n.656dup c.302dup (p.His101GlnfsTer12) | gnomAD v4 |
16 | g.1985910C>A | CA394303974 | GFER | c.275C>A (p.Thr92Lys) c.500C>A (p.Thr167Lys) n.657C>A c.303C>A (p.His101Gln) | |
16 | g.1985910C= | CA2201967726 | GFER | c.275C= (p.Thr92=) c.500C= (p.Thr167=) n.657C= c.303C= (p.His101=) | |
16 | g.1985910C>G | CA394303975 | GFER | c.275C>G (p.Thr92Arg) c.500C>G (p.Thr167Arg) n.657C>G c.303C>G (p.His101Gln) | |
16 | g.1985910C>T | CA394303976 | GFER | c.275C>T (p.Thr92Ile) c.500C>T (p.Thr167Ile) n.657C>T c.303C>T (p.His101=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985911A= | CA2201967727 | GFER | c.276A= (p.Thr92=) c.501A= (p.Thr167=) n.658A= c.304A= (p.Thr102=) | |
16 | g.1985911A>C | CA394303979 | GFER | c.276A>C (p.Thr92=) c.501A>C (p.Thr167=) n.658A>C c.304A>C (p.Thr102Pro) | gnomAD v4 |
16 | g.1985911A>G | CA394303980 | GFER | c.276A>G (p.Thr92=) c.501A>G (p.Thr167=) n.658A>G c.304A>G (p.Thr102Ala) | ClinVar dbSNP |
16 | g.1985911A>T | CA394303981 | GFER | c.276A>T (p.Thr92=) c.501A>T (p.Thr167=) n.658A>T c.304A>T (p.Thr102Ser) |