| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1985891C>A | CA394303837 | GFER | c.256C>A (p.Arg86Ser) c.481C>A (p.Arg161Ser) n.638C>A c.284C>A (p.Pro95Gln) | gnomAD v4 |
| 16 | g.1985891C= | CA2201967705 | GFER | c.256C= (p.Arg86=) c.481C= (p.Arg161=) n.638C= c.284C= (p.Pro95=) | |
| 16 | g.1985891C>G | CA394303834 | GFER | c.256C>G (p.Arg86Gly) c.481C>G (p.Arg161Gly) n.638C>G c.284C>G (p.Pro95Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1985891C>T | CA7826070 | GFER | c.256C>T (p.Arg86Cys) c.481C>T (p.Arg161Cys) n.638C>T c.284C>T (p.Pro95Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1985892G>A | CA7826071 | GFER | c.257G>A (p.Arg86His) c.482G>A (p.Arg161His) n.639G>A c.285G>A (p.Pro95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1985892G>C | CA394303843 | GFER | c.257G>C (p.Arg86Pro) c.482G>C (p.Arg161Pro) n.639G>C c.285G>C (p.Pro95=) | dbSNP |
| 16 | g.1985892G= | CA2201967707 | GFER | c.257G= (p.Arg86=) c.482G= (p.Arg161=) n.639G= c.285G= (p.Pro95=) | |
| 16 | g.1985892G>T | CA394303845 | GFER | c.257G>T (p.Arg86Leu) c.482G>T (p.Arg161Leu) n.639G>T c.285G>T (p.Pro95=) | |
| 16 | g.1985893C>A | CA394303846 | GFER | c.258C>A (p.Arg86=) c.483C>A (p.Arg161=) n.640C>A c.286C>A (p.His96Asn) | |
| 16 | g.1985893C>G | CA394303848 | GFER | c.258C>G (p.Arg86=) c.483C>G (p.Arg161=) n.640C>G c.286C>G (p.His96Asp) | |
| 16 | g.1985893C>T | CA394303850 | GFER | c.258C>T (p.Arg86=) c.483C>T (p.Arg161=) n.640C>T c.286C>T (p.His96Tyr) | gnomAD v4 |
| 16 | g.1985894A= | CA2201967709 | GFER | c.259A= (p.Thr87=) c.484A= (p.Thr162=) n.641A= c.287A= (p.His96=) | |
| 16 | g.1985894A>C | CA394303853 | GFER | c.259A>C (p.Thr87Pro) c.484A>C (p.Thr162Pro) n.641A>C c.287A>C (p.His96Pro) | |
| 16 | g.1985894A>G | CA394303855 | GFER | c.259A>G (p.Thr87Ala) c.484A>G (p.Thr162Ala) n.641A>G c.287A>G (p.His96Arg) | dbSNP |
| 16 | g.1985894A>T | CA394303857 | GFER | c.259A>T (p.Thr87Ser) c.484A>T (p.Thr162Ser) n.641A>T c.287A>T (p.His96Leu) | gnomAD v4 |
| 16 | g.1985895C>A | CA394303859 | GFER | c.260C>A (p.Thr87Asn) c.485C>A (p.Thr162Asn) n.642C>A c.288C>A (p.His96Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1985895C= | CA2201967710 | GFER | c.260C= (p.Thr87=) c.485C= (p.Thr162=) n.642C= c.288C= (p.His96=) | |
| 16 | g.1985895C>G | CA394303862 | GFER | c.260C>G (p.Thr87Ser) c.485C>G (p.Thr162Ser) n.642C>G c.288C>G (p.His96Gln) | |
| 16 | g.1985895C>T | CA394303864 | GFER | c.260C>T (p.Thr87Ile) c.485C>T (p.Thr162Ile) n.642C>T c.288C>T (p.His96=) | COSMIC |
| 16 | g.1985896C>A | CA394303871 | GFER | c.261C>A (p.Thr87=) c.486C>A (p.Thr162=) n.643C>A c.289C>A (p.Pro97Thr) | |
| 16 | g.1985896C= | CA2201967712 | GFER | c.261C= (p.Thr87=) c.486C= (p.Thr162=) n.643C= c.289C= (p.Pro97=) | |
| 16 | g.1985896C>G | CA394303873 | GFER | c.261C>G (p.Thr87=) c.486C>G (p.Thr162=) n.643C>G c.289C>G (p.Pro97Ala) | |
| 16 | g.1985896C>T | CA394303869 | GFER | c.261C>T (p.Thr87=) c.486C>T (p.Thr162=) n.643C>T c.289C>T (p.Pro97Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1985897C>A | CA394303877 | GFER | c.262C>A (p.Arg88=) c.487C>A (p.Arg163=) n.644C>A c.290C>A (p.Pro97Gln) | gnomAD v4 |
| 16 | g.1985897C= | CA2201967713 | GFER | c.262C= (p.Arg88=) c.487C= (p.Arg163=) n.644C= c.290C= (p.Pro97=) | |
| 16 | g.1985897C>G | CA394303875 | GFER | c.262C>G (p.Arg88Gly) c.487C>G (p.Arg163Gly) n.644C>G c.290C>G (p.Pro97Arg) | gnomAD v4 |
| 16 | g.1985897C>T | CA7826072 | GFER | c.262C>T (p.Arg88Trp) c.487C>T (p.Arg163Trp) n.644C>T c.290C>T (p.Pro97Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 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) |