| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132908138A>C | CA2688648692 | TG | c.3848-48A>C (n.3848-48A>C) c.503-48A>C c.3587-48A>C (n.3587-48A>C) | gnomAD v4 |
| 8 | g.132908139A>C | CA1119360522 | TG | c.3848-47A>C (n.3848-47A>C) c.503-47A>C c.3587-47A>C (n.3587-47A>C) | gnomAD v3 gnomAD v4 |
| 8 | g.132908139A>T | CA2688648693 | TG | c.3848-47A>T (n.3848-47A>T) c.503-47A>T c.3587-47A>T (n.3587-47A>T) | gnomAD v4 |
| 8 | g.132908139_132908141delinsACT | CA1821000173 | TG | c.3848-47_3848-45delinsACT (n.3848-47_3848-45delinsACT) c.503-47_503-45delinsACT c.3587-47_3587-45delinsACT (n.3587-47_3587-45delinsACT) | |
| 8 | g.132908140C>A | CA2579254044 | TG | c.3848-46C>A (n.3848-46C>A) c.503-46C>A c.3587-46C>A (n.3587-46C>A) | gnomAD v4 |
| 8 | g.132908140C= | CA1821000174 | TG | c.3848-46C= (n.3848-46C=) c.503-46C= c.3587-46C= (n.3587-46C=) | |
| 8 | g.132908140C>T | CA4883915 | TG | c.3848-46C>T (n.3848-46C>T) c.503-46C>T c.3587-46C>T (n.3587-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908142_132908143del | CA1119360524 | TG | c.3848-44_3848-43del (n.3848-44_3848-43del) c.503-44_503-43del c.3587-44_3587-43del (n.3587-44_3587-43del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908142C>A | CA2688648694 | TG | c.3848-44C>A (n.3848-44C>A) c.503-44C>A c.3587-44C>A (n.3587-44C>A) | gnomAD v4 |
| 8 | g.132908143T>C | CA4883916 | TG | c.3848-43T>C (n.3848-43T>C) c.503-43T>C c.3587-43T>C (n.3587-43T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908143T= | CA1821000175 | TG | c.3848-43T= (n.3848-43T=) c.503-43T= c.3587-43T= (n.3587-43T=) | |
| 8 | g.132908144del | CA2688648695 | TG | c.3848-42del (n.3848-42del) c.503-42del c.3587-42del (n.3587-42del) | gnomAD v4 |
| 8 | g.132908144A= | CA1821000176 | TG | c.3848-42A= (n.3848-42A=) c.503-42A= c.3587-42A= (n.3587-42A=) | |
| 8 | g.132908144A>G | CA186300633 | TG | c.3848-42A>G (n.3848-42A>G) c.503-42A>G c.3587-42A>G (n.3587-42A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908145C>A | CA2688648696 | TG | c.3848-41C>A (n.3848-41C>A) c.503-41C>A c.3587-41C>A (n.3587-41C>A) | gnomAD v4 |
| 8 | g.132908146A= | CA1821000177 | TG | c.3848-40A= (n.3848-40A=) c.503-40A= c.3587-40A= (n.3587-40A=) | |
| 8 | g.132908146A>G | CA4883917 | TG | c.3848-40A>G (n.3848-40A>G) c.503-40A>G c.3587-40A>G (n.3587-40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908146A>T | CA2688648697 | TG | c.3848-40A>T (n.3848-40A>T) c.503-40A>T c.3587-40A>T (n.3587-40A>T) | gnomAD v4 |
| 8 | g.132908148G>C | CA4883918 | TG | c.3848-38G>C (n.3848-38G>C) c.503-38G>C c.3587-38G>C (n.3587-38G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908148G= | CA1821000178 | TG | c.3848-38G= (n.3848-38G=) c.503-38G= c.3587-38G= (n.3587-38G=) | |
| 8 | g.132908148G>T | CA2688648699 | TG | c.3848-38G>T (n.3848-38G>T) c.503-38G>T c.3587-38G>T (n.3587-38G>T) | gnomAD v4 |
| 8 | g.132908149C= | CA1821000179 | TG | c.3848-37C= (n.3848-37C=) c.503-37C= c.3587-37C= (n.3587-37C=) | |
| 8 | g.132908149C>T | CA585277622 | TG | c.3848-37C>T (n.3848-37C>T) c.503-37C>T c.3587-37C>T (n.3587-37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908150C>T | CA2688648700 | TG | c.3848-36C>T (n.3848-36C>T) c.503-36C>T c.3587-36C>T (n.3587-36C>T) | gnomAD v4 |
| 8 | g.132908151C>A | CA2782271879 | TG | c.3848-35C>A (n.3848-35C>A) c.503-35C>A c.3587-35C>A (n.3587-35C>A) | |
| 8 | g.132908151C>T | CA2718412463 | TG | c.3848-35C>T (n.3848-35C>T) c.503-35C>T c.3587-35C>T (n.3587-35C>T) | dbSNP |
| 8 | g.132908152A>G | CA2688648701 | TG | c.3848-34A>G (n.3848-34A>G) c.503-34A>G c.3587-34A>G (n.3587-34A>G) | dbSNP gnomAD v4 |
| 8 | g.132908153T>G | CA2782271880 | TG | c.3848-33T>G (n.3848-33T>G) c.503-33T>G c.3587-33T>G (n.3587-33T>G) | |
| 8 | g.132908154T>C | CA186300649 | TG | c.3848-32T>C (n.3848-32T>C) c.503-32T>C c.3587-32T>C (n.3587-32T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908154T= | CA1821000180 | TG | c.3848-32T= (n.3848-32T=) c.503-32T= c.3587-32T= (n.3587-32T=) | |
| 8 | g.132908155G= | CA1821000181 | TG | c.3848-31G= (n.3848-31G=) c.503-31G= c.3587-31G= (n.3587-31G=) | |
| 8 | g.132908155G>T | CA4883919 | TG | c.3848-31G>T (n.3848-31G>T) c.503-31G>T c.3587-31G>T (n.3587-31G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908156C= | CA1821000182 | TG | c.3848-30C= (n.3848-30C=) c.503-30C= c.3587-30C= (n.3587-30C=) | |
| 8 | g.132908156C>T | CA585277623 | TG | c.3848-30C>T (n.3848-30C>T) c.503-30C>T c.3587-30C>T (n.3587-30C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908157C= | CA1821000183 | TG | c.3848-29C= (n.3848-29C=) c.503-29C= c.3587-29C= (n.3587-29C=) | |
| 8 | g.132908157C>T | CA1119360532 | TG | c.3848-29C>T (n.3848-29C>T) c.503-29C>T c.3587-29C>T (n.3587-29C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908158T>A | CA2688648707 | TG | c.3848-28T>A (n.3848-28T>A) c.503-28T>A c.3587-28T>A (n.3587-28T>A) | gnomAD v4 |
| 8 | g.132908158T>C | CA4883920 | TG | c.3848-28T>C (n.3848-28T>C) c.503-28T>C c.3587-28T>C (n.3587-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908158T= | CA1821000184 | TG | c.3848-28T= (n.3848-28T=) c.503-28T= c.3587-28T= (n.3587-28T=) | |
| 8 | g.132908159C>A | CA2688648710 | TG | c.3848-27C>A (n.3848-27C>A) c.503-27C>A c.3587-27C>A (n.3587-27C>A) | gnomAD v4 |
| 8 | g.132908161G>A | CA2688648711 | TG | c.3848-25G>A (n.3848-25G>A) c.503-25G>A c.3587-25G>A (n.3587-25G>A) | gnomAD v4 |
| 8 | g.132908161G>C | CA585277624 | TG | c.3848-25G>C (n.3848-25G>C) c.503-25G>C c.3587-25G>C (n.3587-25G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908161G= | CA1821000185 | TG | c.3848-25G= (n.3848-25G=) c.503-25G= c.3587-25G= (n.3587-25G=) | |
| 8 | g.132908161G>T | CA2688648712 | TG | c.3848-25G>T (n.3848-25G>T) c.503-25G>T c.3587-25G>T (n.3587-25G>T) | gnomAD v4 |
| 8 | g.132908162C>T | CA2688648714 | TG | c.3848-24C>T (n.3848-24C>T) c.503-24C>T c.3587-24C>T (n.3587-24C>T) | gnomAD v4 |
| 8 | g.132908163T>A | CA2688648715 | TG | c.3848-23T>A (n.3848-23T>A) c.503-23T>A c.3587-23T>A (n.3587-23T>A) | gnomAD v4 |
| 8 | g.132908163T>C | CA2688648717 | TG | c.3848-23T>C (n.3848-23T>C) c.503-23T>C c.3587-23T>C (n.3587-23T>C) | gnomAD v4 |
| 8 | g.132908164G>A | CA2782271881 | TG | c.3848-22G>A (n.3848-22G>A) c.503-22G>A c.3587-22G>A (n.3587-22G>A) | |
| 8 | g.132908164G>T | CA2688648719 | TG | c.3848-22G>T (n.3848-22G>T) c.503-22G>T c.3587-22G>T (n.3587-22G>T) | gnomAD v4 |
| 8 | g.132908165A= | CA1821000186 | TG | c.3848-21A= (n.3848-21A=) c.503-21A= c.3587-21A= (n.3587-21A=) | |
| 8 | g.132908165A>C | CA1119360535 | TG | c.3848-21A>C (n.3848-21A>C) c.503-21A>C c.3587-21A>C (n.3587-21A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908166T>A | CA2580844751 | TG | c.3848-20T>A (n.3848-20T>A) c.503-20T>A c.3587-20T>A (n.3587-20T>A) | gnomAD v4 |
| 8 | g.132908166T>C | CA4883921 | TG | c.3848-20T>C (n.3848-20T>C) c.503-20T>C c.3587-20T>C (n.3587-20T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908166T>G | CA2580844752 | TG | c.3848-20T>G (n.3848-20T>G) c.503-20T>G c.3587-20T>G (n.3587-20T>G) | |
| 8 | g.132908166T= | CA1821000187 | TG | c.3848-20T= (n.3848-20T=) c.503-20T= c.3587-20T= (n.3587-20T=) | |
| 8 | g.132908167C= | CA1821000188 | TG | c.3848-19C= (n.3848-19C=) c.503-19C= c.3587-19C= (n.3587-19C=) | |
| 8 | g.132908167C>G | CA4883922 | TG | c.3848-19C>G (n.3848-19C>G) c.503-19C>G c.3587-19C>G (n.3587-19C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908167C>T | CA847704423 | TG | c.3848-19C>T (n.3848-19C>T) c.503-19C>T c.3587-19C>T (n.3587-19C>T) | dbSNP |
| 8 | g.132908168T>C | CA2688648720 | TG | c.3848-18T>C (n.3848-18T>C) c.503-18T>C c.3587-18T>C (n.3587-18T>C) | gnomAD v4 |
| 8 | g.132908169C= | CA1821000189 | TG | c.3848-17C= (n.3848-17C=) c.503-17C= c.3587-17C= (n.3587-17C=) | |
| 8 | g.132908169C>G | CA847704427 | TG | c.3848-17C>G (n.3848-17C>G) c.503-17C>G c.3587-17C>G (n.3587-17C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908169C>T | CA4883923 | TG | c.3848-17C>T (n.3848-17C>T) c.503-17C>T c.3587-17C>T (n.3587-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908172del | CA2688648726 | TG | c.3848-14del (n.3848-14del) c.503-14del c.3587-14del (n.3587-14del) | gnomAD v4 |
| 8 | g.132908174G>C | CA2739268999 | TG | c.3848-12G>C (n.3848-12G>C) c.503-12G>C c.3587-12G>C (n.3587-12G>C) | ClinVar |
| 8 | g.132908174G>T | CA2688648727 | TG | c.3848-12G>T (n.3848-12G>T) c.503-12G>T c.3587-12G>T (n.3587-12G>T) | gnomAD v4 |
| 8 | g.132908177T>C | CA2688648729 | TG | c.3848-9T>C (n.3848-9T>C) c.503-9T>C c.3587-9T>C (n.3587-9T>C) | gnomAD v4 |
| 8 | g.132908177T>G | CA847704429 | TG | c.3848-9T>G (n.3848-9T>G) c.503-9T>G c.3587-9T>G (n.3587-9T>G) | dbSNP |
| 8 | g.132908177T= | CA1821000190 | TG | c.3848-9T= (n.3848-9T=) c.503-9T= c.3587-9T= (n.3587-9T=) | |
| 8 | g.132908178G>A | CA2688648730 | TG | c.3848-8G>A (n.3848-8G>A) c.503-8G>A c.3587-8G>A (n.3587-8G>A) | gnomAD v4 |
| 8 | g.132908178G>C | CA2688648731 | TG | c.3848-8G>C (n.3848-8G>C) c.503-8G>C c.3587-8G>C (n.3587-8G>C) | gnomAD v4 |
| 8 | g.132908178G= | CA1821000191 | TG | c.3848-8G= (n.3848-8G=) c.503-8G= c.3587-8G= (n.3587-8G=) | |
| 8 | g.132908178G>T | CA4883924 | TG | c.3848-8G>T (n.3848-8G>T) c.503-8G>T c.3587-8G>T (n.3587-8G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908179C= | CA1821000192 | TG | c.3848-7C= (n.3848-7C=) c.503-7C= c.3587-7C= (n.3587-7C=) | |
| 8 | g.132908179C>G | CA4883925 | TG | c.3848-7C>G (n.3848-7C>G) c.503-7C>G c.3587-7C>G (n.3587-7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908180C>T | CA2739269000 | TG | c.3848-6C>T (n.3848-6C>T) c.503-6C>T c.3587-6C>T (n.3587-6C>T) | ClinVar |
| 8 | g.132908181T>C | CA2782271889 | TG | c.3848-5T>C (n.3848-5T>C) c.503-5T>C c.3587-5T>C (n.3587-5T>C) | |
| 8 | g.132908182G>A | CA585277625 | TG | c.3848-4G>A (n.3848-4G>A) c.503-4G>A c.3587-4G>A (n.3587-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908182G>C | CA2688648735 | TG | c.3848-4G>C (n.3848-4G>C) c.503-4G>C c.3587-4G>C (n.3587-4G>C) | gnomAD v4 |
| 8 | g.132908182G= | CA1821000193 | TG | c.3848-4G= (n.3848-4G=) c.503-4G= c.3587-4G= (n.3587-4G=) | |
| 8 | g.132908182G>T | CA2688648736 | TG | c.3848-4G>T (n.3848-4G>T) c.503-4G>T c.3587-4G>T (n.3587-4G>T) | gnomAD v4 |
| 8 | g.132908183C= | CA1821000194 | TG | c.3848-3C= (n.3848-3C=) c.503-3C= c.3587-3C= (n.3587-3C=) | |
| 8 | g.132908183C>T | CA1821000195 | TG | c.3848-3C>T (n.3848-3C>T) c.503-3C>T c.3587-3C>T (n.3587-3C>T) | dbSNP gnomAD v4 |
| 8 | g.132908184A>C | CA372243748 | TG | c.3848-2A>C (n.3848-2A>C) c.503-2A>C c.3587-2A>C (n.3587-2A>C) | |
| 8 | g.132908184A>G | CA372243749 | TG | c.3848-2A>G (n.3848-2A>G) c.503-2A>G c.3587-2A>G (n.3587-2A>G) | |
| 8 | g.132908184A>T | CA372243750 | TG | c.3848-2A>T (n.3848-2A>T) c.503-2A>T c.3587-2A>T (n.3587-2A>T) | |
| 8 | g.132908185G>A | CA372243753 | TG | c.3848-1G>A (n.3848-1G>A) c.503-1G>A c.3587-1G>A (n.3587-1G>A) | |
| 8 | g.132908185G>C | CA372243754 | TG | c.3848-1G>C (n.3848-1G>C) c.503-1G>C c.3587-1G>C (n.3587-1G>C) | |
| 8 | g.132908185G>T | CA372243756 | TG | c.3848-1G>T (n.3848-1G>T) c.503-1G>T c.3587-1G>T (n.3587-1G>T) | gnomAD v4 |
| 8 | g.132908186G>A | CA372243758 | TG | c.3848G>A (p.Arg1283Gln) c.503G>A c.3587G>A (p.Arg1196Gln) | COSMIC |
| 8 | g.132908186G>C | CA372243760 | TG | c.3848G>C (p.Arg1283Pro) c.503G>C c.3587G>C (p.Arg1196Pro) | |
| 8 | g.132908186G= | CA1821000196 | TG | c.3848G= (p.Arg1283=) c.503G= c.3587G= (p.Arg1196=) | |
| 8 | g.132908186G>T | CA372243762 | TG | c.3848G>T (p.Arg1283Leu) c.503G>T c.3587G>T (p.Arg1196Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908187G>A | CA463011499 | TG | c.3849G>A (p.Arg1283=) c.504G>A c.3588G>A (p.Arg1196=) | |
| 8 | g.132908187G>C | CA463011500 | TG | c.3849G>C (p.Arg1283=) c.504G>C c.3588G>C (p.Arg1196=) | |
| 8 | g.132908187G= | CA1821000197 | TG | c.3849G= (p.Arg1283=) c.504G= c.3588G= (p.Arg1196=) | |
| 8 | g.132908187G>T | CA4883926 | TG | c.3849G>T (p.Arg1283=) c.504G>T c.3588G>T (p.Arg1196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908188C>A | CA4883927 | TG | c.3850C>A (p.Pro1284Thr) c.505C>A c.3589C>A (p.Pro1197Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908188C= | CA1821000198 | TG | c.3850C= (p.Pro1284=) c.505C= c.3589C= (p.Pro1197=) | |
| 8 | g.132908188C>G | CA372243764 | TG | c.3850C>G (p.Pro1284Ala) c.505C>G c.3589C>G (p.Pro1197Ala) | |
| 8 | g.132908188C>T | CA4883928 | TG | c.3850C>T (p.Pro1284Ser) c.505C>T c.3589C>T (p.Pro1197Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908189C>A | CA372243769 | TG | c.3851C>A (p.Pro1284His) c.506C>A c.3590C>A (p.Pro1197His) | |
| 8 | g.132908189C>G | CA372243767 | TG | c.3851C>G (p.Pro1284Arg) c.506C>G c.3590C>G (p.Pro1197Arg) | |
| 8 | g.132908189C>T | CA372243766 | TG | c.3851C>T (p.Pro1284Leu) c.506C>T c.3590C>T (p.Pro1197Leu) | gnomAD v4 |
| 8 | g.132908190C>A | CA463011513 | TG | c.3852C>A (p.Pro1284=) c.507C>A c.3591C>A (p.Pro1197=) | |
| 8 | g.132908190C= | CA1821000199 | TG | c.3852C= (p.Pro1284=) c.507C= c.3591C= (p.Pro1197=) | |
| 8 | g.132908190C>G | CA4883929 | TG | c.3852C>G (p.Pro1284=) c.507C>G c.3591C>G (p.Pro1197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908190C>T | CA463011516 | TG | c.3852C>T (p.Pro1284=) c.507C>T c.3591C>T (p.Pro1197=) | dbSNP gnomAD v2 |
| 8 | g.132908191C>A | CA372243771 | TG | c.3853C>A (p.Gln1285Lys) c.508C>A c.3592C>A (p.Gln1198Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908191C= | CA1821000200 | TG | c.3853C= (p.Gln1285=) c.508C= c.3592C= (p.Gln1198=) | |
| 8 | g.132908191C>G | CA372243772 | TG | c.3853C>G (p.Gln1285Glu) c.508C>G c.3592C>G (p.Gln1198Glu) | |
| 8 | g.132908191C>T | CA372243774 | TG | c.3853C>T (p.Gln1285Ter) c.508C>T c.3592C>T (p.Gln1198Ter) | |
| 8 | g.132908192A= | CA1821000201 | TG | c.3854A= (p.Gln1285=) c.509A= c.3593A= (p.Gln1198=) | |
| 8 | g.132908192A>C | CA372243776 | TG | c.3854A>C (p.Gln1285Pro) c.509A>C c.3593A>C (p.Gln1198Pro) | gnomAD v4 |
| 8 | g.132908192A>G | CA372243778 | TG | c.3854A>G (p.Gln1285Arg) c.509A>G c.3593A>G (p.Gln1198Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908192A>T | CA372243779 | TG | c.3854A>T (p.Gln1285Leu) c.509A>T c.3593A>T (p.Gln1198Leu) | |
| 8 | g.132908193G>A | CA463011526 | TG | c.3855G>A (p.Gln1285=) c.510G>A c.3594G>A (p.Gln1198=) | COSMIC |
| 8 | g.132908193G>C | CA372243780 | TG | c.3855G>C (p.Gln1285His) c.510G>C c.3594G>C (p.Gln1198His) | |
| 8 | g.132908193G= | CA1821000202 | TG | c.3855G= (p.Gln1285=) c.510G= c.3594G= (p.Gln1198=) | |
| 8 | g.132908193G>T | CA372243783 | TG | c.3855G>T (p.Gln1285His) c.510G>T c.3594G>T (p.Gln1198His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908194C>A | CA16618602 | TG | c.3856C>A (p.Leu1286Met) c.511C>A c.3595C>A (p.Leu1199Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908194C= | CA1821000203 | TG | c.3856C= (p.Leu1286=) c.511C= c.3595C= (p.Leu1199=) | |
| 8 | g.132908194C>G | CA372243785 | TG | c.3856C>G (p.Leu1286Val) c.511C>G c.3595C>G (p.Leu1199Val) | gnomAD v4 |
| 8 | g.132908194C>T | CA463011532 | TG | c.3856C>T (p.Leu1286=) c.511C>T c.3595C>T (p.Leu1199=) | |
| 8 | g.132908195T>A | CA372243787 | TG | c.3857T>A (p.Leu1286Gln) c.512T>A c.3596T>A (p.Leu1199Gln) | |
| 8 | g.132908195T>C | CA372243789 | TG | c.3857T>C (p.Leu1286Pro) c.512T>C c.3596T>C (p.Leu1199Pro) | |
| 8 | g.132908195T>G | CA372243791 | TG | c.3857T>G (p.Leu1286Arg) c.512T>G c.3596T>G (p.Leu1199Arg) | |
| 8 | g.132908196G>A | CA463011539 | TG | c.3858G>A (p.Leu1286=) c.513G>A c.3597G>A (p.Leu1199=) | gnomAD v4 |
| 8 | g.132908196G>C | CA463011540 | TG | c.3858G>C (p.Leu1286=) c.513G>C c.3597G>C (p.Leu1199=) | |
| 8 | g.132908196G>T | CA463011542 | TG | c.3858G>T (p.Leu1286=) c.513G>T c.3597G>T (p.Leu1199=) | |
| 8 | g.132908197T>A | CA372243795 | TG | c.3859T>A (p.Trp1287Arg) c.514T>A c.3598T>A (p.Trp1200Arg) | |
| 8 | g.132908197T>C | CA372243797 | TG | c.3859T>C (p.Trp1287Arg) c.514T>C c.3598T>C (p.Trp1200Arg) | |
| 8 | g.132908197T>G | CA372243793 | TG | c.3859T>G (p.Trp1287Gly) c.514T>G c.3598T>G (p.Trp1200Gly) | |
| 8 | g.132908198G>A | CA372243798 | TG | c.3860G>A (p.Trp1287Ter) c.515G>A c.3599G>A (p.Trp1200Ter) | |
| 8 | g.132908198G>C | CA372243799 | TG | c.3860G>C (p.Trp1287Ser) c.515G>C c.3599G>C (p.Trp1200Ser) | |
| 8 | g.132908198G>T | CA372243800 | TG | c.3860G>T (p.Trp1287Leu) c.515G>T c.3599G>T (p.Trp1200Leu) | gnomAD v4 |
| 8 | g.132908199G>A | CA372243801 | TG | c.3861G>A (p.Trp1287Ter) c.516G>A c.3600G>A (p.Trp1200Ter) | gnomAD v4 |
| 8 | g.132908199G>C | CA372243802 | TG | c.3861G>C (p.Trp1287Cys) c.516G>C c.3600G>C (p.Trp1200Cys) | |
| 8 | g.132908199G>T | CA372243803 | TG | c.3861G>T (p.Trp1287Cys) c.516G>T c.3600G>T (p.Trp1200Cys) | gnomAD v4 |
| 8 | g.132908200C>A | CA372243806 | TG | c.3862C>A (p.Gln1288Lys) c.517C>A c.3601C>A (p.Gln1201Lys) | dbSNP |
| 8 | g.132908200C= | CA1821000204 | TG | c.3862C= (p.Gln1288=) c.517C= c.3601C= (p.Gln1201=) | |
| 8 | g.132908200C>G | CA372243804 | TG | c.3862C>G (p.Gln1288Glu) c.517C>G c.3601C>G (p.Gln1201Glu) | |
| 8 | g.132908200C>T | CA372243805 | TG | c.3862C>T (p.Gln1288Ter) c.517C>T c.3601C>T (p.Gln1201Ter) | |
| 8 | g.132908201A>C | CA372243807 | TG | c.3863A>C (p.Gln1288Pro) c.518A>C c.3602A>C (p.Gln1201Pro) | |
| 8 | g.132908201A>G | CA372243808 | TG | c.3863A>G (p.Gln1288Arg) c.518A>G c.3602A>G (p.Gln1201Arg) | gnomAD v4 |
| 8 | g.132908201A>T | CA372243809 | TG | c.3863A>T (p.Gln1288Leu) c.518A>T c.3602A>T (p.Gln1201Leu) | |
| 8 | g.132908202G>A | CA463011564 | TG | c.3864G>A (p.Gln1288=) c.519G>A c.3603G>A (p.Gln1201=) | |
| 8 | g.132908202G>C | CA372243810 | TG | c.3864G>C (p.Gln1288His) c.519G>C c.3603G>C (p.Gln1201His) | |
| 8 | g.132908202G>T | CA372243811 | TG | c.3864G>T (p.Gln1288His) c.519G>T c.3603G>T (p.Gln1201His) | gnomAD v4 |
| 8 | g.132908203A= | CA1821000205 | TG | c.3865A= (p.Thr1289=) c.520A= c.3604A= (p.Thr1202=) | |
| 8 | g.132908203A>C | CA372243812 | TG | c.3865A>C (p.Thr1289Pro) c.520A>C c.3604A>C (p.Thr1202Pro) | |
| 8 | g.132908203A>G | CA372243814 | TG | c.3865A>G (p.Thr1289Ala) c.520A>G c.3604A>G (p.Thr1202Ala) | dbSNP gnomAD v4 |
| 8 | g.132908203A>T | CA372243813 | TG | c.3865A>T (p.Thr1289Ser) c.520A>T c.3604A>T (p.Thr1202Ser) | |
| 8 | g.132908204C>A | CA372243815 | TG | c.3866C>A (p.Thr1289Asn) c.521C>A c.3605C>A (p.Thr1202Asn) | |
| 8 | g.132908204C= | CA1821000206 | TG | c.3866C= (p.Thr1289=) c.521C= c.3605C= (p.Thr1202=) | |
| 8 | g.132908204C>G | CA372243816 | TG | c.3866C>G (p.Thr1289Ser) c.521C>G c.3605C>G (p.Thr1202Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908204C>T | CA372243817 | TG | c.3866C>T (p.Thr1289Ile) c.521C>T c.3605C>T (p.Thr1202Ile) | dbSNP gnomAD v2 |
| 8 | g.132908205C>A | CA463011568 | TG | c.3867C>A (p.Thr1289=) c.522C>A c.3606C>A (p.Thr1202=) | |
| 8 | g.132908205C= | CA1821000207 | TG | c.3867C= (p.Thr1289=) c.522C= c.3606C= (p.Thr1202=) | |
| 8 | g.132908205C>G | CA463011569 | TG | c.3867C>G (p.Thr1289=) c.522C>G c.3606C>G (p.Thr1202=) | |
| 8 | g.132908205C>T | CA4883930 | TG | c.3867C>T (p.Thr1289=) c.522C>T c.3606C>T (p.Thr1202=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908206A>C | CA372243818 | TG | c.3868A>C (p.Ile1290Leu) c.523A>C c.3607A>C (p.Ile1203Leu) | |
| 8 | g.132908206A>G | CA372243819 | TG | c.3868A>G (p.Ile1290Val) c.523A>G c.3607A>G (p.Ile1203Val) | gnomAD v4 |
| 8 | g.132908206A>T | CA372243820 | TG | c.3868A>T (p.Ile1290Phe) c.523A>T c.3607A>T (p.Ile1203Phe) | |
| 8 | g.132908207T>A | CA372243821 | TG | c.3869T>A (p.Ile1290Asn) c.524T>A c.3608T>A (p.Ile1203Asn) | gnomAD v4 |
| 8 | g.132908207T>C | CA372243822 | TG | c.3869T>C (p.Ile1290Thr) c.524T>C c.3608T>C (p.Ile1203Thr) | |
| 8 | g.132908207T>G | CA372243823 | TG | c.3869T>G (p.Ile1290Ser) c.524T>G c.3608T>G (p.Ile1203Ser) | |
| 8 | g.132908208C>A | CA463011570 | TG | c.3870C>A (p.Ile1290=) c.525C>A c.3609C>A (p.Ile1203=) | ClinVar |
| 8 | g.132908208C>G | CA372243824 | TG | c.3870C>G (p.Ile1290Met) c.525C>G c.3609C>G (p.Ile1203Met) | dbSNP |
| 8 | g.132908208C>T | CA463011571 | TG | c.3870C>T (p.Ile1290=) c.525C>T c.3609C>T (p.Ile1203=) | |
| 8 | g.132908209C>A | CA372243827 | TG | c.3871C>A (p.Gln1291Lys) c.526C>A c.3610C>A (p.Gln1204Lys) | |
| 8 | g.132908209C= | CA1821000208 | TG | c.3871C= (p.Gln1291=) c.526C= c.3610C= (p.Gln1204=) | |
| 8 | g.132908209C>G | CA372243825 | TG | c.3871C>G (p.Gln1291Glu) c.526C>G c.3610C>G (p.Gln1204Glu) | |
| 8 | g.132908209C>T | CA372243826 | TG | c.3871C>T (p.Gln1291Ter) c.526C>T c.3610C>T (p.Gln1204Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908210A= | CA1821000209 | TG | c.3872A= (p.Gln1291=) c.527A= c.3611A= (p.Gln1204=) | |
| 8 | g.132908210A>C | CA372243828 | TG | c.3872A>C (p.Gln1291Pro) c.527A>C c.3611A>C (p.Gln1204Pro) | |
| 8 | g.132908210A>G | CA372243829 | TG | c.3872A>G (p.Gln1291Arg) c.527A>G c.3611A>G (p.Gln1204Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908210A>T | CA372243830 | TG | c.3872A>T (p.Gln1291Leu) c.527A>T c.3611A>T (p.Gln1204Leu) | |
| 8 | g.132908211G>A | CA463011572 | TG | c.3873G>A (p.Gln1291=) c.528G>A c.3612G>A (p.Gln1204=) | |
| 8 | g.132908211G>C | CA372243831 | TG | c.3873G>C (p.Gln1291His) c.528G>C c.3612G>C (p.Gln1204His) | |
| 8 | g.132908211G= | CA1821000211 | TG | c.3873G= (p.Gln1291=) c.528G= c.3612G= (p.Gln1204=) | |
| 8 | g.132908211G>T | CA186300706 | TG | c.3873G>T (p.Gln1291His) c.528G>T c.3612G>T (p.Gln1204His) | dbSNP |
| 8 | g.132908212A= | CA1821000213 | TG | c.3874A= (p.Thr1292=) c.529A= c.3613A= (p.Thr1205=) | |
| 8 | g.132908212A>C | CA372243832 | TG | c.3874A>C (p.Thr1292Pro) c.529A>C c.3613A>C (p.Thr1205Pro) | |
| 8 | g.132908212A>G | CA372243833 | TG | c.3874A>G (p.Thr1292Ala) c.529A>G c.3613A>G (p.Thr1205Ala) | dbSNP |
| 8 | g.132908212A>T | CA372243834 | TG | c.3874A>T (p.Thr1292Ser) c.529A>T c.3613A>T (p.Thr1205Ser) | |
| 8 | g.132908213C>A | CA372243835 | TG | c.3875C>A (p.Thr1292Asn) c.530C>A c.3614C>A (p.Thr1205Asn) | dbSNP gnomAD v2 |
| 8 | g.132908213C= | CA1821000214 | TG | c.3875C= (p.Thr1292=) c.530C= c.3614C= (p.Thr1205=) | |
| 8 | g.132908213C>G | CA372243837 | TG | c.3875C>G (p.Thr1292Ser) c.530C>G c.3614C>G (p.Thr1205Ser) | |
| 8 | g.132908213C>T | CA372243836 | TG | c.3875C>T (p.Thr1292Ile) c.530C>T c.3614C>T (p.Thr1205Ile) | |
| 8 | g.132908214C>A | CA463011573 | TG | c.3876C>A (p.Thr1292=) c.531C>A c.3615C>A (p.Thr1205=) | gnomAD v4 |
| 8 | g.132908214C= | CA1821000216 | TG | c.3876C= (p.Thr1292=) c.531C= c.3615C= (p.Thr1205=) | |
| 8 | g.132908214C>G | CA463011574 | TG | c.3876C>G (p.Thr1292=) c.531C>G c.3615C>G (p.Thr1205=) | |
| 8 | g.132908214C>T | CA4883931 | TG | c.3876C>T (p.Thr1292=) c.531C>T c.3615C>T (p.Thr1205=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132908215C>A | CA372243838 | TG | c.3877C>A (p.Gln1293Lys) c.532C>A c.3616C>A (p.Gln1206Lys) | |
| 8 | g.132908215C>G | CA372243839 | TG | c.3877C>G (p.Gln1293Glu) c.532C>G c.3616C>G (p.Gln1206Glu) | |
| 8 | g.132908215C>T | CA372243840 | TG | c.3877C>T (p.Gln1293Ter) c.532C>T c.3616C>T (p.Gln1206Ter) | |
| 8 | g.132908216A= | CA1821000219 | TG | c.3878A= (p.Gln1293=) c.533A= c.3617A= (p.Gln1206=) | |
| 8 | g.132908216A>C | CA372243841 | TG | c.3878A>C (p.Gln1293Pro) c.533A>C c.3617A>C (p.Gln1206Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132908216A>G | CA372243843 | TG | c.3878A>G (p.Gln1293Arg) c.533A>G c.3617A>G (p.Gln1206Arg) | |
| 8 | g.132908216A>T | CA372243842 | TG | c.3878A>T (p.Gln1293Leu) c.533A>T c.3617A>T (p.Gln1206Leu) | |
| 8 | g.132908217A= | CA1821000220 | TG | c.3879A= (p.Gln1293=) c.534A= c.3618A= (p.Gln1206=) | |
| 8 | g.132908217A>C | CA372243844 | TG | c.3879A>C (p.Gln1293His) c.534A>C c.3618A>C (p.Gln1206His) | |
| 8 | g.132908217A>G | CA463011575 | TG | c.3879A>G (p.Gln1293=) c.534A>G c.3618A>G (p.Gln1206=) | ClinVar |
| 8 | g.132908217A>T | CA186300718 | TG | c.3879A>T (p.Gln1293His) c.534A>T c.3618A>T (p.Gln1206His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908218G>A | CA372243845 | TG | c.3880G>A (p.Gly1294Arg) c.535G>A c.3619G>A (p.Gly1207Arg) | gnomAD v4 |
| 8 | g.132908218G>C | CA372243846 | TG | c.3880G>C (p.Gly1294Arg) c.535G>C c.3619G>C (p.Gly1207Arg) | |
| 8 | g.132908218G>T | CA372243847 | TG | c.3880G>T (p.Gly1294Trp) c.535G>T c.3619G>T (p.Gly1207Trp) | |
| 8 | g.132908219G>A | CA372243848 | TG | c.3881G>A (p.Gly1294Glu) c.536G>A c.3620G>A (p.Gly1207Glu) | |
| 8 | g.132908219G>C | CA372243849 | TG | c.3881G>C (p.Gly1294Ala) c.536G>C c.3620G>C (p.Gly1207Ala) | |
| 8 | g.132908219G= | CA1821000221 | TG | c.3881G= (p.Gly1294=) c.536G= c.3620G= (p.Gly1207=) | |
| 8 | g.132908219G>T | CA4883932 | TG | c.3881G>T (p.Gly1294Val) c.536G>T c.3620G>T (p.Gly1207Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908220G>A | CA463011578 | TG | c.3882G>A (p.Gly1294=) c.537G>A c.3621G>A (p.Gly1207=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908220G>C | CA463011577 | TG | c.3882G>C (p.Gly1294=) c.537G>C c.3621G>C (p.Gly1207=) | |
| 8 | g.132908220G= | CA1821000223 | TG | c.3882G= (p.Gly1294=) c.537G= c.3621G= (p.Gly1207=) | |
| 8 | g.132908220G>T | CA463011576 | TG | c.3882G>T (p.Gly1294=) c.537G>T c.3621G>T (p.Gly1207=) | |
| 8 | g.132908221C>A | CA372243850 | TG | c.3883C>A (p.His1295Asn) c.538C>A c.3622C>A (p.His1208Asn) | |
| 8 | g.132908221C= | CA1821000225 | TG | c.3883C= (p.His1295=) c.538C= c.3622C= (p.His1208=) | |
| 8 | g.132908221C>G | CA372243851 | TG | c.3883C>G (p.His1295Asp) c.538C>G c.3622C>G (p.His1208Asp) | |
| 8 | g.132908221C>T | CA4883933 | TG | c.3883C>T (p.His1295Tyr) c.538C>T c.3622C>T (p.His1208Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908222A= | CA1821000228 | TG | c.3884A= (p.His1295=) c.539A= c.3623A= (p.His1208=) | |
| 8 | g.132908222A>C | CA372243853 | TG | c.3884A>C (p.His1295Pro) c.539A>C c.3623A>C (p.His1208Pro) | |
| 8 | g.132908222A>G | CA4883934 | TG | c.3884A>G (p.His1295Arg) c.539A>G c.3623A>G (p.His1208Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908222A>T | CA372243852 | TG | c.3884A>T (p.His1295Leu) c.539A>T c.3623A>T (p.His1208Leu) | |
| 8 | g.132908223C>A | CA372243854 | TG | c.3885C>A (p.His1295Gln) c.540C>A c.3624C>A (p.His1208Gln) | |
| 8 | g.132908223C= | CA1821000230 | TG | c.3885C= (p.His1295=) c.540C= c.3624C= (p.His1208=) | |
| 8 | g.132908223C>G | CA4883935 | TG | c.3885C>G (p.His1295Gln) c.540C>G c.3624C>G (p.His1208Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908223C>T | CA463011579 | TG | c.3885C>T (p.His1295=) c.540C>T c.3624C>T (p.His1208=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908224T>A | CA174439 | TG | c.3886T>A (p.Phe1296Ile) c.541T>A c.3625T>A (p.Phe1209Ile) | ClinVar dbSNP COSMIC |
| 8 | g.132908224T>C | CA372243855 | TG | c.3886T>C (p.Phe1296Leu) c.541T>C c.3625T>C (p.Phe1209Leu) | |
| 8 | g.132908224T>G | CA372243856 | TG | c.3886T>G (p.Phe1296Val) c.541T>G c.3625T>G (p.Phe1209Val) | |
| 8 | g.132908224T= | CA1821000232 | TG | c.3886T= (p.Phe1296=) c.541T= c.3625T= (p.Phe1209=) | |
| 8 | g.132908225T>A | CA372243857 | TG | c.3887T>A (p.Phe1296Tyr) c.542T>A c.3626T>A (p.Phe1209Tyr) | |
| 8 | g.132908225T>C | CA372243858 | TG | c.3887T>C (p.Phe1296Ser) c.542T>C c.3626T>C (p.Phe1209Ser) | dbSNP |
| 8 | g.132908225T>G | CA372243859 | TG | c.3887T>G (p.Phe1296Cys) c.542T>G c.3626T>G (p.Phe1209Cys) | |
| 8 | g.132908225T= | CA1821000233 | TG | c.3887T= (p.Phe1296=) c.542T= c.3626T= (p.Phe1209=) | |
| 8 | g.132908226T>A | CA372243860 | TG | c.3888T>A (p.Phe1296Leu) c.543T>A c.3627T>A (p.Phe1209Leu) | |
| 8 | g.132908226T>C | CA463011580 | TG | c.3888T>C (p.Phe1296=) c.543T>C c.3627T>C (p.Phe1209=) | |
| 8 | g.132908226T>G | CA372243861 | TG | c.3888T>G (p.Phe1296Leu) c.543T>G c.3627T>G (p.Phe1209Leu) | |
| 8 | g.132908227C>A | CA372243862 | TG | c.3889C>A (p.Gln1297Lys) c.544C>A c.3628C>A (p.Gln1210Lys) | |
| 8 | g.132908227C= | CA1821000236 | TG | c.3889C= (p.Gln1297=) c.544C= c.3628C= (p.Gln1210=) | |
| 8 | g.132908227C>G | CA372243863 | TG | c.3889C>G (p.Gln1297Glu) c.544C>G c.3628C>G (p.Gln1210Glu) | gnomAD v4 |
| 8 | g.132908227C>T | CA4883936 | TG | c.3889C>T (p.Gln1297Ter) c.544C>T c.3628C>T (p.Gln1210Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908228A>C | CA372243866 | TG | c.3890A>C (p.Gln1297Pro) c.545A>C c.3629A>C (p.Gln1210Pro) | |
| 8 | g.132908228A>G | CA372243864 | TG | c.3890A>G (p.Gln1297Arg) c.545A>G c.3629A>G (p.Gln1210Arg) | gnomAD v4 |
| 8 | g.132908228A>T | CA372243865 | TG | c.3890A>T (p.Gln1297Leu) c.545A>T c.3629A>T (p.Gln1210Leu) | |
| 8 | g.132908229G>A | CA463011581 | TG | c.3891G>A (p.Gln1297=) c.546G>A c.3630G>A (p.Gln1210=) | |
| 8 | g.132908229G>C | CA372243867 | TG | c.3891G>C (p.Gln1297His) c.546G>C c.3630G>C (p.Gln1210His) | gnomAD v4 |
| 8 | g.132908229G>T | CA372243868 | TG | c.3891G>T (p.Gln1297His) c.546G>T c.3630G>T (p.Gln1210His) | |
| 8 | g.132908230C>A | CA372243869 | TG | c.3892C>A (p.Leu1298Ile) c.547C>A c.3631C>A (p.Leu1211Ile) | |
| 8 | g.132908230C>G | CA372243870 | TG | c.3892C>G (p.Leu1298Val) c.547C>G c.3631C>G (p.Leu1211Val) | |
| 8 | g.132908230C>T | CA372243871 | TG | c.3892C>T (p.Leu1298Phe) c.547C>T c.3631C>T (p.Leu1211Phe) | |
| 8 | g.132908231T>A | CA372243872 | TG | c.3893T>A (p.Leu1298His) c.548T>A c.3632T>A (p.Leu1211His) | |
| 8 | g.132908231T>C | CA372243873 | TG | c.3893T>C (p.Leu1298Pro) c.548T>C c.3632T>C (p.Leu1211Pro) | dbSNP |
| 8 | g.132908231T>G | CA372243874 | TG | c.3893T>G (p.Leu1298Arg) c.548T>G c.3632T>G (p.Leu1211Arg) | |
| 8 | g.132908231T= | CA1821000239 | TG | c.3893T= (p.Leu1298=) c.548T= c.3632T= (p.Leu1211=) | |
| 8 | g.132908232C>A | CA463011582 | TG | c.3894C>A (p.Leu1298=) c.549C>A c.3633C>A (p.Leu1211=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132908232C= | CA1821000246 | TG | c.3894C= (p.Leu1298=) c.549C= c.3633C= (p.Leu1211=) | |
| 8 | g.132908232C>G | CA463011583 | TG | c.3894C>G (p.Leu1298=) c.549C>G c.3633C>G (p.Leu1211=) | |
| 8 | g.132908232C>T | CA4883937 | TG | c.3894C>T (p.Leu1298=) c.549C>T c.3633C>T (p.Leu1211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908233C>A | CA372243875 | TG | c.3895C>A (p.Gln1299Lys) c.550C>A c.3634C>A (p.Gln1212Lys) | |
| 8 | g.132908233C>G | CA372243876 | TG | c.3895C>G (p.Gln1299Glu) c.550C>G c.3634C>G (p.Gln1212Glu) | |
| 8 | g.132908233C>T | CA372243877 | TG | c.3895C>T (p.Gln1299Ter) c.550C>T c.3634C>T (p.Gln1212Ter) | gnomAD v4 |
| 8 | g.132908234A>C | CA372243878 | TG | c.3896A>C (p.Gln1299Pro) c.551A>C c.3635A>C (p.Gln1212Pro) | |
| 8 | g.132908234A>G | CA372243880 | TG | c.3896A>G (p.Gln1299Arg) c.551A>G c.3635A>G (p.Gln1212Arg) | gnomAD v4 |
| 8 | g.132908234A>T | CA372243879 | TG | c.3896A>T (p.Gln1299Leu) c.551A>T c.3635A>T (p.Gln1212Leu) | |
| 8 | g.132908235G>A | CA463011584 | TG | c.3897G>A (p.Gln1299=) c.552G>A c.3636G>A (p.Gln1212=) | |
| 8 | g.132908235G>C | CA372243881 | TG | c.3897G>C (p.Gln1299His) c.552G>C c.3636G>C (p.Gln1212His) | |
| 8 | g.132908235G>T | CA372243882 | TG | c.3897G>T (p.Gln1299His) c.552G>T c.3636G>T (p.Gln1212His) | |
| 8 | g.132908236C>A | CA372243883 | TG | c.3898C>A (p.Leu1300Ile) c.553C>A c.3637C>A (p.Leu1213Ile) | |
| 8 | g.132908236C>G | CA372243884 | TG | c.3898C>G (p.Leu1300Val) c.553C>G c.3637C>G (p.Leu1213Val) | |
| 8 | g.132908236C>T | CA372243885 | TG | c.3898C>T (p.Leu1300Phe) c.553C>T c.3637C>T (p.Leu1213Phe) | |
| 8 | g.132908237T>A | CA372243888 | TG | c.3899T>A (p.Leu1300His) c.554T>A c.3638T>A (p.Leu1213His) | |
| 8 | g.132908237T>C | CA372243887 | TG | c.3899T>C (p.Leu1300Pro) c.554T>C c.3638T>C (p.Leu1213Pro) | |
| 8 | g.132908237T>G | CA372243886 | TG | c.3899T>G (p.Leu1300Arg) c.554T>G c.3638T>G (p.Leu1213Arg) |