Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41009349_41009366dup | CA2336258737 | CYP2B6 | c.776_793dup (p.Leu264_Ile265insSerAlaProLysAspLeu) c.800_817dup c.257-2949_257-2932dup (n.257-2949_257-2932dup) c.485-2949_485-2932dup (n.485-2949_485-2932dup) c.185_202dup (p.Leu67_Ile68insSerAlaProLysAspLeu) c.365-2949_365-2932dup (n.365-2949_365-2932dup) | dbSNP |
19 | g.41009364_41009365del | CA2520215766 | CYP2B6 | c.791_792del (p.Leu264HisfsTer18) c.815_816del c.257-2934_257-2933del (n.257-2934_257-2933del) c.485-2934_485-2933del (n.485-2934_485-2933del) c.200_201del (p.Leu67HisfsTer18) c.365-2934_365-2933del (n.365-2934_365-2933del) | |
19 | g.41009364T>A | CA405980762 | CYP2B6 | c.791T>A (p.Leu264His) c.815T>A c.257-2934T>A (n.257-2934T>A) c.485-2934T>A (n.485-2934T>A) c.200T>A (p.Leu67His) c.365-2934T>A (n.365-2934T>A) | gnomAD v4 |
19 | g.41009364T>C | CA405980764 | CYP2B6 | c.791T>C (p.Leu264Pro) c.815T>C c.257-2934T>C (n.257-2934T>C) c.485-2934T>C (n.485-2934T>C) c.200T>C (p.Leu67Pro) c.365-2934T>C (n.365-2934T>C) | |
19 | g.41009364T>G | CA405980765 | CYP2B6 | c.791T>G (p.Leu264Arg) c.815T>G c.257-2934T>G (n.257-2934T>G) c.485-2934T>G (n.485-2934T>G) c.200T>G (p.Leu67Arg) c.365-2934T>G (n.365-2934T>G) | |
19 | g.41009365C>A | CA507535594 | CYP2B6 | c.792C>A (p.Leu264=) c.816C>A c.257-2933C>A (n.257-2933C>A) c.485-2933C>A (n.485-2933C>A) c.201C>A (p.Leu67=) c.365-2933C>A (n.365-2933C>A) | |
19 | g.41009365C>G | CA507535595 | CYP2B6 | c.792C>G (p.Leu264=) c.816C>G c.257-2933C>G (n.257-2933C>G) c.485-2933C>G (n.485-2933C>G) c.201C>G (p.Leu67=) c.365-2933C>G (n.365-2933C>G) | |
19 | g.41009365C>T | CA507535596 | CYP2B6 | c.792C>T (p.Leu264=) c.816C>T c.257-2933C>T (n.257-2933C>T) c.485-2933C>T (n.485-2933C>T) c.201C>T (p.Leu67=) c.365-2933C>T (n.365-2933C>T) | |
19 | g.41009366A>C | CA405980767 | CYP2B6 | c.793A>C (p.Ile265Leu) c.817A>C c.257-2932A>C (n.257-2932A>C) c.485-2932A>C (n.485-2932A>C) c.202A>C (p.Ile68Leu) c.365-2932A>C (n.365-2932A>C) | gnomAD v4 |
19 | g.41009366A>G | CA405980769 | CYP2B6 | c.793A>G (p.Ile265Val) c.817A>G c.257-2932A>G (n.257-2932A>G) c.485-2932A>G (n.485-2932A>G) c.202A>G (p.Ile68Val) c.365-2932A>G (n.365-2932A>G) | gnomAD v4 |
19 | g.41009366A>T | CA405980771 | CYP2B6 | c.793A>T (p.Ile265Phe) c.817A>T c.257-2932A>T (n.257-2932A>T) c.485-2932A>T (n.485-2932A>T) c.202A>T (p.Ile68Phe) c.365-2932A>T (n.365-2932A>T) | |
19 | g.41009367T>A | CA405980772 | CYP2B6 | c.794T>A (p.Ile265Asn) c.818T>A c.257-2931T>A (n.257-2931T>A) c.485-2931T>A (n.485-2931T>A) c.203T>A (p.Ile68Asn) c.365-2931T>A (n.365-2931T>A) | |
19 | g.41009367T>C | CA405980773 | CYP2B6 | c.794T>C (p.Ile265Thr) c.818T>C c.257-2931T>C (n.257-2931T>C) c.485-2931T>C (n.485-2931T>C) c.203T>C (p.Ile68Thr) c.365-2931T>C (n.365-2931T>C) | |
19 | g.41009367T>G | CA405980774 | CYP2B6 | c.794T>G (p.Ile265Ser) c.818T>G c.257-2931T>G (n.257-2931T>G) c.485-2931T>G (n.485-2931T>G) c.203T>G (p.Ile68Ser) c.365-2931T>G (n.365-2931T>G) | |
19 | g.41009368C>A | CA507535605 | CYP2B6 | c.795C>A (p.Ile265=) c.819C>A c.257-2930C>A (n.257-2930C>A) c.485-2930C>A (n.485-2930C>A) c.204C>A (p.Ile68=) c.365-2930C>A (n.365-2930C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41009368C= | CA2336258774 | CYP2B6 | c.795C= (p.Ile265=) c.819C= c.257-2930C= (n.257-2930C=) c.485-2930C= (n.485-2930C=) c.204C= (p.Ile68=) c.365-2930C= (n.365-2930C=) | |
19 | g.41009368C>G | CA308498419 | CYP2B6 | c.795C>G (p.Ile265Met) c.819C>G c.257-2930C>G (n.257-2930C>G) c.485-2930C>G (n.485-2930C>G) c.204C>G (p.Ile68Met) c.365-2930C>G (n.365-2930C>G) | dbSNP gnomAD v4 |
19 | g.41009368C>T | CA9455336 | CYP2B6 | c.795C>T (p.Ile265=) c.819C>T c.257-2930C>T (n.257-2930C>T) c.485-2930C>T (n.485-2930C>T) c.204C>T (p.Ile68=) c.365-2930C>T (n.365-2930C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41009369G>A | CA9455337 | CYP2B6 | c.796G>A (p.Asp266Asn) c.820G>A c.257-2929G>A (n.257-2929G>A) c.485-2929G>A (n.485-2929G>A) c.205G>A (p.Asp69Asn) c.365-2929G>A (n.365-2929G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41009369G>C | CA405980780 | CYP2B6 | c.796G>C (p.Asp266His) c.820G>C c.257-2929G>C (n.257-2929G>C) c.485-2929G>C (n.485-2929G>C) c.205G>C (p.Asp69His) c.365-2929G>C (n.365-2929G>C) | |
19 | g.41009369G= | CA2336258778 | CYP2B6 | c.796G= (p.Asp266=) c.820G= c.257-2929G= (n.257-2929G=) c.485-2929G= (n.485-2929G=) c.205G= (p.Asp69=) c.365-2929G= (n.365-2929G=) | |
19 | g.41009369G>T | CA405980781 | CYP2B6 | c.796G>T (p.Asp266Tyr) c.820G>T c.257-2929G>T (n.257-2929G>T) c.485-2929G>T (n.485-2929G>T) c.205G>T (p.Asp69Tyr) c.365-2929G>T (n.365-2929G>T) | |
19 | g.41009370A= | CA2336258782 | CYP2B6 | c.797A= (p.Asp266=) c.821A= c.257-2928A= (n.257-2928A=) c.485-2928A= (n.485-2928A=) c.206A= (p.Asp69=) c.365-2928A= (n.365-2928A=) | |
19 | g.41009370A>C | CA405980784 | CYP2B6 | c.797A>C (p.Asp266Ala) c.821A>C c.257-2928A>C (n.257-2928A>C) c.485-2928A>C (n.485-2928A>C) c.206A>C (p.Asp69Ala) c.365-2928A>C (n.365-2928A>C) | dbSNP gnomAD v4 |
19 | g.41009370A>G | CA405980785 | CYP2B6 | c.797A>G (p.Asp266Gly) c.821A>G c.257-2928A>G (n.257-2928A>G) c.485-2928A>G (n.485-2928A>G) c.206A>G (p.Asp69Gly) c.365-2928A>G (n.365-2928A>G) | |
19 | g.41009370A>T | CA9455338 | CYP2B6 | c.797A>T (p.Asp266Val) c.821A>T c.257-2928A>T (n.257-2928A>T) c.485-2928A>T (n.485-2928A>T) c.206A>T (p.Asp69Val) c.365-2928A>T (n.365-2928A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41009371C>A | CA405980787 | CYP2B6 | c.798C>A (p.Asp266Glu) c.822C>A c.257-2927C>A (n.257-2927C>A) c.485-2927C>A (n.485-2927C>A) c.207C>A (p.Asp69Glu) c.365-2927C>A (n.365-2927C>A) | |
19 | g.41009371C= | CA2336258785 | CYP2B6 | c.798C= (p.Asp266=) c.822C= c.257-2927C= (n.257-2927C=) c.485-2927C= (n.485-2927C=) c.207C= (p.Asp69=) c.365-2927C= (n.365-2927C=) | |
19 | g.41009371C>G | CA405980789 | CYP2B6 | c.798C>G (p.Asp266Glu) c.822C>G c.257-2927C>G (n.257-2927C>G) c.485-2927C>G (n.485-2927C>G) c.207C>G (p.Asp69Glu) c.365-2927C>G (n.365-2927C>G) | |
19 | g.41009371C>T | CA507535613 | CYP2B6 | c.798C>T (p.Asp266=) c.822C>T c.257-2927C>T (n.257-2927C>T) c.485-2927C>T (n.485-2927C>T) c.207C>T (p.Asp69=) c.365-2927C>T (n.365-2927C>T) | dbSNP gnomAD v4 |
19 | g.41009372A>C | CA405980791 | CYP2B6 | c.799A>C (p.Thr267Pro) c.823A>C c.257-2926A>C (n.257-2926A>C) c.485-2926A>C (n.485-2926A>C) c.208A>C (p.Thr70Pro) c.365-2926A>C (n.365-2926A>C) | |
19 | g.41009372A>G | CA405980792 | CYP2B6 | c.799A>G (p.Thr267Ala) c.823A>G c.257-2926A>G (n.257-2926A>G) c.485-2926A>G (n.485-2926A>G) c.208A>G (p.Thr70Ala) c.365-2926A>G (n.365-2926A>G) | gnomAD v4 |
19 | g.41009372A>T | CA405980793 | CYP2B6 | c.799A>T (p.Thr267Ser) c.823A>T c.257-2926A>T (n.257-2926A>T) c.485-2926A>T (n.485-2926A>T) c.208A>T (p.Thr70Ser) c.365-2926A>T (n.365-2926A>T) | |
19 | g.41009373C>A | CA9455339 | CYP2B6 | c.800C>A (p.Thr267Asn) c.824C>A c.257-2925C>A (n.257-2925C>A) c.485-2925C>A (n.485-2925C>A) c.209C>A (p.Thr70Asn) c.365-2925C>A (n.365-2925C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41009373C= | CA2336258787 | CYP2B6 | c.800C= (p.Thr267=) c.824C= c.257-2925C= (n.257-2925C=) c.485-2925C= (n.485-2925C=) c.209C= (p.Thr70=) c.365-2925C= (n.365-2925C=) | |
19 | g.41009373C>G | CA405980795 | CYP2B6 | c.800C>G (p.Thr267Ser) c.824C>G c.257-2925C>G (n.257-2925C>G) c.485-2925C>G (n.485-2925C>G) c.209C>G (p.Thr70Ser) c.365-2925C>G (n.365-2925C>G) | gnomAD v4 |
19 | g.41009373C>T | CA405980794 | CYP2B6 | c.800C>T (p.Thr267Ile) c.824C>T c.257-2925C>T (n.257-2925C>T) c.485-2925C>T (n.485-2925C>T) c.209C>T (p.Thr70Ile) c.365-2925C>T (n.365-2925C>T) | gnomAD v4 |
19 | g.41009374C>A | CA507535619 | CYP2B6 | c.801C>A (p.Thr267=) c.825C>A c.257-2924C>A (n.257-2924C>A) c.485-2924C>A (n.485-2924C>A) c.210C>A (p.Thr70=) c.365-2924C>A (n.365-2924C>A) | |
19 | g.41009374C>G | CA507535621 | CYP2B6 | c.801C>G (p.Thr267=) c.825C>G c.257-2924C>G (n.257-2924C>G) c.485-2924C>G (n.485-2924C>G) c.210C>G (p.Thr70=) c.365-2924C>G (n.365-2924C>G) | |
19 | g.41009374C>T | CA507535622 | CYP2B6 | c.801C>T (p.Thr267=) c.825C>T c.257-2924C>T (n.257-2924C>T) c.485-2924C>T (n.485-2924C>T) c.210C>T (p.Thr70=) c.365-2924C>T (n.365-2924C>T) | |
19 | g.41009375T>A | CA405980799 | CYP2B6 | c.802T>A (p.Tyr268Asn) c.826T>A c.257-2923T>A (n.257-2923T>A) c.485-2923T>A (n.485-2923T>A) c.211T>A (p.Tyr71Asn) c.365-2923T>A (n.365-2923T>A) | |
19 | g.41009375T>C | CA405980804 | CYP2B6 | c.802T>C (p.Tyr268His) c.826T>C c.257-2923T>C (n.257-2923T>C) c.485-2923T>C (n.485-2923T>C) c.211T>C (p.Tyr71His) c.365-2923T>C (n.365-2923T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41009375T>G | CA405980806 | CYP2B6 | c.802T>G (p.Tyr268Asp) c.826T>G c.257-2923T>G (n.257-2923T>G) c.485-2923T>G (n.485-2923T>G) c.211T>G (p.Tyr71Asp) c.365-2923T>G (n.365-2923T>G) | |
19 | g.41009375T= | CA2336258792 | CYP2B6 | c.802T= (p.Tyr268=) c.826T= c.257-2923T= (n.257-2923T=) c.485-2923T= (n.485-2923T=) c.211T= (p.Tyr71=) c.365-2923T= (n.365-2923T=) | |
19 | g.41009376A>C | CA405980812 | CYP2B6 | c.803A>C (p.Tyr268Ser) c.827A>C c.257-2922A>C (n.257-2922A>C) c.485-2922A>C (n.485-2922A>C) c.212A>C (p.Tyr71Ser) c.365-2922A>C (n.365-2922A>C) | |
19 | g.41009376A>G | CA405980813 | CYP2B6 | c.803A>G (p.Tyr268Cys) c.827A>G c.257-2922A>G (n.257-2922A>G) c.485-2922A>G (n.485-2922A>G) c.212A>G (p.Tyr71Cys) c.365-2922A>G (n.365-2922A>G) | |
19 | g.41009376A>T | CA405980814 | CYP2B6 | c.803A>T (p.Tyr268Phe) c.827A>T c.257-2922A>T (n.257-2922A>T) c.485-2922A>T (n.485-2922A>T) c.212A>T (p.Tyr71Phe) c.365-2922A>T (n.365-2922A>T) | |
19 | g.41009377C>A | CA405980815 | CYP2B6 | c.804C>A (p.Tyr268Ter) c.828C>A c.257-2921C>A (n.257-2921C>A) c.485-2921C>A (n.485-2921C>A) c.213C>A (p.Tyr71Ter) c.365-2921C>A (n.365-2921C>A) | gnomAD v4 |
19 | g.41009377C>G | CA405980816 | CYP2B6 | c.804C>G (p.Tyr268Ter) c.828C>G c.257-2921C>G (n.257-2921C>G) c.485-2921C>G (n.485-2921C>G) c.213C>G (p.Tyr71Ter) c.365-2921C>G (n.365-2921C>G) | |
19 | g.41009377C>T | CA507535626 | CYP2B6 | c.804C>T (p.Tyr268=) c.828C>T c.257-2921C>T (n.257-2921C>T) c.485-2921C>T (n.485-2921C>T) c.213C>T (p.Tyr71=) c.365-2921C>T (n.365-2921C>T) | gnomAD v4 |