Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.99768283G>TCA2683986165CYP3A4c.670+71C>A (n.670+71C>A)
c.211+71C>A (n.211+71C>A)
c.523+71C>A (n.523+71C>A)
c.220+71C>A (n.220+71C>A)
gnomAD v4
7g.99768288A=CA1729180816CYP3A4c.670+66T= (n.670+66T=)
c.211+66T= (n.211+66T=)
c.523+66T= (n.523+66T=)
c.220+66T= (n.220+66T=)
7g.99768288A>GCA576401935CYP3A4c.670+66T>C (n.670+66T>C)
c.211+66T>C (n.211+66T>C)
c.523+66T>C (n.523+66T>C)
c.220+66T>C (n.220+66T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99768288A>TCA2683986166CYP3A4c.670+66T>A (n.670+66T>A)
c.211+66T>A (n.211+66T>A)
c.523+66T>A (n.523+66T>A)
c.220+66T>A (n.220+66T>A)
gnomAD v4
7g.99768289T>CCA2578955190CYP3A4c.670+65A>G (n.670+65A>G)
c.211+65A>G (n.211+65A>G)
c.523+65A>G (n.523+65A>G)
c.220+65A>G (n.220+65A>G)
gnomAD v4
7g.99768290A=CA1729180818CYP3A4c.670+64T= (n.670+64T=)
c.211+64T= (n.211+64T=)
c.523+64T= (n.523+64T=)
c.220+64T= (n.220+64T=)
7g.99768290A>CCA2580595034CYP3A4c.670+64T>G (n.670+64T>G)
c.211+64T>G (n.211+64T>G)
c.523+64T>G (n.523+64T>G)
c.220+64T>G (n.220+64T>G)
7g.99768290A>GCA163153339CYP3A4c.670+64T>C (n.670+64T>C)
c.211+64T>C (n.211+64T>C)
c.523+64T>C (n.523+64T>C)
c.220+64T>C (n.220+64T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99768290A>TCA2580595033CYP3A4c.670+64T>A (n.670+64T>A)
c.211+64T>A (n.211+64T>A)
c.523+64T>A (n.523+64T>A)
c.220+64T>A (n.220+64T>A)
7g.99768291T>CCA2578955191CYP3A4c.670+63A>G (n.670+63A>G)
c.211+63A>G (n.211+63A>G)
c.523+63A>G (n.523+63A>G)
c.220+63A>G (n.220+63A>G)
7g.99768292C>ACA2683986167CYP3A4c.670+62G>T (n.670+62G>T)
c.211+62G>T (n.211+62G>T)
c.523+62G>T (n.523+62G>T)
c.220+62G>T (n.220+62G>T)
gnomAD v4
7g.99768292C>TCA2683986168CYP3A4c.670+62G>A (n.670+62G>A)
c.211+62G>A (n.211+62G>A)
c.523+62G>A (n.523+62G>A)
c.220+62G>A (n.220+62G>A)
gnomAD v4
7g.99768293T>ACA2683986169CYP3A4c.670+61A>T (n.670+61A>T)
c.211+61A>T (n.211+61A>T)
c.523+61A>T (n.523+61A>T)
c.220+61A>T (n.220+61A>T)
gnomAD v4
7g.99768294C>ACA2683986170CYP3A4c.670+60G>T (n.670+60G>T)
c.211+60G>T (n.211+60G>T)
c.523+60G>T (n.523+60G>T)
c.220+60G>T (n.220+60G>T)
gnomAD v4
7g.99768294C>TCA2572654586CYP3A4c.670+60G>A (n.670+60G>A)
c.211+60G>A (n.211+60G>A)
c.523+60G>A (n.523+60G>A)
c.220+60G>A (n.220+60G>A)
7g.99768296A=CA1729180820CYP3A4c.670+58T= (n.670+58T=)
c.211+58T= (n.211+58T=)
c.523+58T= (n.523+58T=)
c.220+58T= (n.220+58T=)
7g.99768296A>CCA844514347CYP3A4c.670+58T>G (n.670+58T>G)
c.211+58T>G (n.211+58T>G)
c.523+58T>G (n.523+58T>G)
c.220+58T>G (n.220+58T>G)
dbSNP gnomAD v4
7g.99768298A>CCA2683986172CYP3A4c.670+56T>G (n.670+56T>G)
c.211+56T>G (n.211+56T>G)
c.523+56T>G (n.523+56T>G)
c.220+56T>G (n.220+56T>G)
gnomAD v4
7g.99768300delCA2683986171CYP3A4c.670+56del (n.670+56del)
c.211+56del (n.211+56del)
c.523+56del (n.523+56del)
c.220+56del (n.220+56del)
gnomAD v4
7g.99768301G>CCA2683986173CYP3A4c.670+53C>G (n.670+53C>G)
c.211+53C>G (n.211+53C>G)
c.523+53C>G (n.523+53C>G)
c.220+53C>G (n.220+53C>G)
gnomAD v4
7g.99768301G>TCA2578955192CYP3A4c.670+53C>A (n.670+53C>A)
c.211+53C>A (n.211+53C>A)
c.523+53C>A (n.523+53C>A)
c.220+53C>A (n.220+53C>A)
gnomAD v4
7g.99768302C>ACA2683986174CYP3A4c.670+52G>T (n.670+52G>T)
c.211+52G>T (n.211+52G>T)
c.523+52G>T (n.523+52G>T)
c.220+52G>T (n.220+52G>T)
gnomAD v4
7g.99768302C=CA1729180821CYP3A4c.670+52G= (n.670+52G=)
c.211+52G= (n.211+52G=)
c.523+52G= (n.523+52G=)
c.220+52G= (n.220+52G=)
7g.99768302C>TCA1729180822CYP3A4c.670+52G>A (n.670+52G>A)
c.211+52G>A (n.211+52G>A)
c.523+52G>A (n.523+52G>A)
c.220+52G>A (n.220+52G>A)
dbSNP
7g.99768303A>TCA2578955193CYP3A4c.670+51T>A (n.670+51T>A)
c.211+51T>A (n.211+51T>A)
c.523+51T>A (n.523+51T>A)
c.220+51T>A (n.220+51T>A)
7g.99768304G>ACA2777115468CYP3A4c.670+50C>T (n.670+50C>T)
c.211+50C>T (n.211+50C>T)
c.523+50C>T (n.523+50C>T)
c.220+50C>T (n.220+50C>T)
7g.99768308_99768313dupCA2683986175CYP3A4c.670+44_670+49dup (n.670+44_670+49dup)
c.211+44_211+49dup (n.211+44_211+49dup)
c.523+44_523+49dup (n.523+44_523+49dup)
c.220+44_220+49dup (n.220+44_220+49dup)
gnomAD v4
7g.99768307A=CA1729180826CYP3A4c.670+47T= (n.670+47T=)
c.211+47T= (n.211+47T=)
c.523+47T= (n.523+47T=)
c.220+47T= (n.220+47T=)
7g.99768307A>GCA576401936CYP3A4c.670+47T>C (n.670+47T>C)
c.211+47T>C (n.211+47T>C)
c.523+47T>C (n.523+47T>C)
c.220+47T>C (n.220+47T>C)
dbSNP gnomAD v2 gnomAD v4
7g.99768307_99768308delinsATCA1729180824CYP3A4c.670+46_670+47delinsAT (n.670+46_670+47delinsAT)
c.211+46_211+47delinsAT (n.211+46_211+47delinsAT)
c.523+46_523+47delinsAT (n.523+46_523+47delinsAT)
c.220+46_220+47delinsAT (n.220+46_220+47delinsAT)
7g.99768308T>CCA576401937CYP3A4c.670+46A>G (n.670+46A>G)
c.211+46A>G (n.211+46A>G)
c.523+46A>G (n.523+46A>G)
c.220+46A>G (n.220+46A>G)
dbSNP gnomAD v2 gnomAD v4
7g.99768308T>GCA2683986177CYP3A4c.670+46A>C (n.670+46A>C)
c.211+46A>C (n.211+46A>C)
c.523+46A>C (n.523+46A>C)
c.220+46A>C (n.220+46A>C)
gnomAD v4
7g.99768308T=CA1729180830CYP3A4c.670+46A= (n.670+46A=)
c.211+46A= (n.211+46A=)
c.523+46A= (n.523+46A=)
c.220+46A= (n.220+46A=)
7g.99768312dupCA2683986176CYP3A4c.670+46dup (n.670+46dup)
c.211+46dup (n.211+46dup)
c.523+46dup (n.523+46dup)
c.220+46dup (n.220+46dup)
gnomAD v4
7g.99768312delCA4369674CYP3A4c.670+46del (n.670+46del)
c.211+46del (n.211+46del)
c.523+46del (n.523+46del)
c.220+46del (n.220+46del)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99768313A>TCA2683986178CYP3A4c.670+41T>A (n.670+41T>A)
c.211+41T>A (n.211+41T>A)
c.523+41T>A (n.523+41T>A)
c.220+41T>A (n.220+41T>A)
gnomAD v4
7g.99768314A=CA1729180831CYP3A4c.670+40T= (n.670+40T=)
c.211+40T= (n.211+40T=)
c.523+40T= (n.523+40T=)
c.220+40T= (n.220+40T=)
7g.99768314A>CCA1104978597CYP3A4c.670+40T>G (n.670+40T>G)
c.211+40T>G (n.211+40T>G)
c.523+40T>G (n.523+40T>G)
c.220+40T>G (n.220+40T>G)
dbSNP gnomAD v3 gnomAD v4
7g.99768315G>ACA1729180832CYP3A4c.670+39C>T (n.670+39C>T)
c.211+39C>T (n.211+39C>T)
c.523+39C>T (n.523+39C>T)
c.220+39C>T (n.220+39C>T)
dbSNP gnomAD v4
7g.99768315G=CA1729180833CYP3A4c.670+39C= (n.670+39C=)
c.211+39C= (n.211+39C=)
c.523+39C= (n.523+39C=)
c.220+39C= (n.220+39C=)
7g.99768316A>GCA2683986179CYP3A4c.670+38T>C (n.670+38T>C)
c.211+38T>C (n.211+38T>C)
c.523+38T>C (n.523+38T>C)
c.220+38T>C (n.220+38T>C)
gnomAD v4
7g.99768317G>ACA1729180835CYP3A4c.670+37C>T (n.670+37C>T)
c.211+37C>T (n.211+37C>T)
c.523+37C>T (n.523+37C>T)
c.220+37C>T (n.220+37C>T)
dbSNP
7g.99768317G=CA1729180834CYP3A4c.670+37C= (n.670+37C=)
c.211+37C= (n.211+37C=)
c.523+37C= (n.523+37C=)
c.220+37C= (n.220+37C=)
7g.99768317G>TCA1104978603CYP3A4c.670+37C>A (n.670+37C>A)
c.211+37C>A (n.211+37C>A)
c.523+37C>A (n.523+37C>A)
c.220+37C>A (n.220+37C>A)
dbSNP gnomAD v3 gnomAD v4
7g.99768317_99768320delCA2683986180CYP3A4c.670+34_670+37del (n.670+34_670+37del)
c.211+34_211+37del (n.211+34_211+37del)
c.523+34_523+37del (n.523+34_523+37del)
c.220+34_220+37del (n.220+34_220+37del)
gnomAD v4
7g.99768318A=CA1729180836CYP3A4c.670+36T= (n.670+36T=)
c.211+36T= (n.211+36T=)
c.523+36T= (n.523+36T=)
c.220+36T= (n.220+36T=)
7g.99768318A>GCA844514361CYP3A4c.670+36T>C (n.670+36T>C)
c.211+36T>C (n.211+36T>C)
c.523+36T>C (n.523+36T>C)
c.220+36T>C (n.220+36T>C)
dbSNP gnomAD v3 gnomAD v4
7g.99768319G>TCA2683986181CYP3A4c.670+35C>A (n.670+35C>A)
c.211+35C>A (n.211+35C>A)
c.523+35C>A (n.523+35C>A)
c.220+35C>A (n.220+35C>A)
gnomAD v4
7g.99768320C>ACA4369675CYP3A4c.670+34G>T (n.670+34G>T)
c.211+34G>T (n.211+34G>T)
c.523+34G>T (n.523+34G>T)
c.220+34G>T (n.220+34G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768320C=CA1729180837CYP3A4c.670+34G= (n.670+34G=)
c.211+34G= (n.211+34G=)
c.523+34G= (n.523+34G=)
c.220+34G= (n.220+34G=)
7g.99768320C>GCA576401938CYP3A4c.670+34G>C (n.670+34G>C)
c.211+34G>C (n.211+34G>C)
c.523+34G>C (n.523+34G>C)
c.220+34G>C (n.220+34G>C)
dbSNP gnomAD v2 gnomAD v4
7g.99768320C>TCA1729180839CYP3A4c.670+34G>A (n.670+34G>A)
c.211+34G>A (n.211+34G>A)
c.523+34G>A (n.523+34G>A)
c.220+34G>A (n.220+34G>A)
dbSNP
7g.99768321A>GCA2683986182CYP3A4c.670+33T>C (n.670+33T>C)
c.211+33T>C (n.211+33T>C)
c.523+33T>C (n.523+33T>C)
c.220+33T>C (n.220+33T>C)
gnomAD v4
7g.99768324A>GCA2683986183CYP3A4c.670+30T>C (n.670+30T>C)
c.211+30T>C (n.211+30T>C)
c.523+30T>C (n.523+30T>C)
c.220+30T>C (n.220+30T>C)
gnomAD v4
7g.99768325T>GCA2715604900CYP3A4c.670+29A>C (n.670+29A>C)
c.211+29A>C (n.211+29A>C)
c.523+29A>C (n.523+29A>C)
c.220+29A>C (n.220+29A>C)
dbSNP
7g.99768328A=CA1729180842CYP3A4c.670+26T= (n.670+26T=)
c.211+26T= (n.211+26T=)
c.523+26T= (n.523+26T=)
c.220+26T= (n.220+26T=)
7g.99768328A>GCA576401939CYP3A4c.670+26T>C (n.670+26T>C)
c.211+26T>C (n.211+26T>C)
c.523+26T>C (n.523+26T>C)
c.220+26T>C (n.220+26T>C)
dbSNP gnomAD v2 gnomAD v4
7g.99768328A>TCA2683986184CYP3A4c.670+26T>A (n.670+26T>A)
c.211+26T>A (n.211+26T>A)
c.523+26T>A (n.523+26T>A)
c.220+26T>A (n.220+26T>A)
gnomAD v4
7g.99768330A=CA1729180843CYP3A4c.670+24T= (n.670+24T=)
c.211+24T= (n.211+24T=)
c.523+24T= (n.523+24T=)
c.220+24T= (n.220+24T=)
7g.99768330A>GCA2578955194CYP3A4c.670+24T>C (n.670+24T>C)
c.211+24T>C (n.211+24T>C)
c.523+24T>C (n.523+24T>C)
c.220+24T>C (n.220+24T>C)
7g.99768330A>TCA163153345CYP3A4c.670+24T>A (n.670+24T>A)
c.211+24T>A (n.211+24T>A)
c.523+24T>A (n.523+24T>A)
c.220+24T>A (n.220+24T>A)
dbSNP
7g.99768338_99768341delinsATAGCA1729180844CYP3A4c.670+13_670+16delinsCTAT (n.670+13_670+16delinsCTAT)
c.211+13_211+16delinsCTAT (n.211+13_211+16delinsCTAT)
c.523+13_523+16delinsCTAT (n.523+13_523+16delinsCTAT)
c.220+13_220+16delinsCTAT (n.220+13_220+16delinsCTAT)
7g.99768339T>CCA2578955195CYP3A4c.670+15A>G (n.670+15A>G)
c.211+15A>G (n.211+15A>G)
c.523+15A>G (n.523+15A>G)
c.220+15A>G (n.220+15A>G)
gnomAD v4
7g.99768343_99768345delCA844514379CYP3A4c.670+13_670+15del (n.670+13_670+15del)
c.211+13_211+15del (n.211+13_211+15del)
c.523+13_523+15del (n.523+13_523+15del)
c.220+13_220+15del (n.220+13_220+15del)
dbSNP gnomAD v3 gnomAD v4
7g.99768340A=CA1729180845CYP3A4c.670+14T= (n.670+14T=)
c.211+14T= (n.211+14T=)
c.523+14T= (n.523+14T=)
c.220+14T= (n.220+14T=)
7g.99768340A>GCA4369676CYP3A4c.670+14T>C (n.670+14T>C)
c.211+14T>C (n.211+14T>C)
c.523+14T>C (n.523+14T>C)
c.220+14T>C (n.220+14T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99768342T>ACA2683986185CYP3A4c.670+12A>T (n.670+12A>T)
c.211+12A>T (n.211+12A>T)
c.523+12A>T (n.523+12A>T)
c.220+12A>T (n.220+12A>T)
gnomAD v4
7g.99768343A=CA1729180846CYP3A4c.670+11T= (n.670+11T=)
c.211+11T= (n.211+11T=)
c.523+11T= (n.523+11T=)
c.220+11T= (n.220+11T=)
7g.99768343A>GCA1729180847CYP3A4c.670+11T>C (n.670+11T>C)
c.211+11T>C (n.211+11T>C)
c.523+11T>C (n.523+11T>C)
c.220+11T>C (n.220+11T>C)
dbSNP
7g.99768344G>ACA2683986186CYP3A4c.670+10C>T (n.670+10C>T)
c.211+10C>T (n.211+10C>T)
c.523+10C>T (n.523+10C>T)
c.220+10C>T (n.220+10C>T)
gnomAD v4
7g.99768344G=CA1729180848CYP3A4c.670+10C= (n.670+10C=)
c.211+10C= (n.211+10C=)
c.523+10C= (n.523+10C=)
c.220+10C= (n.220+10C=)
7g.99768344G>TCA576401940CYP3A4c.670+10C>A (n.670+10C>A)
c.211+10C>A (n.211+10C>A)
c.523+10C>A (n.523+10C>A)
c.220+10C>A (n.220+10C>A)
dbSNP gnomAD v2
7g.99768345T>ACA2715604903CYP3A4c.670+9A>T (n.670+9A>T)
c.211+9A>T (n.211+9A>T)
c.523+9A>T (n.523+9A>T)
c.220+9A>T (n.220+9A>T)
dbSNP
7g.99768345T>GCA2715604907CYP3A4c.670+9A>C (n.670+9A>C)
c.211+9A>C (n.211+9A>C)
c.523+9A>C (n.523+9A>C)
c.220+9A>C (n.220+9A>C)
dbSNP
7g.99768346C>ACA2683986187CYP3A4c.670+8G>T (n.670+8G>T)
c.211+8G>T (n.211+8G>T)
c.523+8G>T (n.523+8G>T)
c.220+8G>T (n.220+8G>T)
gnomAD v4
7g.99768346C=CA1729180849CYP3A4c.670+8G= (n.670+8G=)
c.211+8G= (n.211+8G=)
c.523+8G= (n.523+8G=)
c.220+8G= (n.220+8G=)
7g.99768346C>GCA4369678CYP3A4c.670+8G>C (n.670+8G>C)
c.211+8G>C (n.211+8G>C)
c.523+8G>C (n.523+8G>C)
c.220+8G>C (n.220+8G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768346C>TCA4369677CYP3A4c.670+8G>A (n.670+8G>A)
c.211+8G>A (n.211+8G>A)
c.523+8G>A (n.523+8G>A)
c.220+8G>A (n.220+8G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768351T>ACA2683986188CYP3A4c.670+3A>T (n.670+3A>T)
c.211+3A>T (n.211+3A>T)
c.523+3A>T (n.523+3A>T)
c.220+3A>T (n.220+3A>T)
gnomAD v4
7g.99768352A>CCA368370581CYP3A4c.670+2T>G (n.670+2T>G)
c.211+2T>G (n.211+2T>G)
c.523+2T>G (n.523+2T>G)
c.220+2T>G (n.220+2T>G)
7g.99768352A>GCA368370584CYP3A4c.670+2T>C (n.670+2T>C)
c.211+2T>C (n.211+2T>C)
c.523+2T>C (n.523+2T>C)
c.220+2T>C (n.220+2T>C)
gnomAD v4
7g.99768352A>TCA368370586CYP3A4c.670+2T>A (n.670+2T>A)
c.211+2T>A (n.211+2T>A)
c.523+2T>A (n.523+2T>A)
c.220+2T>A (n.220+2T>A)
7g.99768353C>ACA368370589CYP3A4c.670+1G>T (n.670+1G>T)
c.211+1G>T (n.211+1G>T)
c.523+1G>T (n.523+1G>T)
c.220+1G>T (n.220+1G>T)
7g.99768353C=CA1729180850CYP3A4c.670+1G= (n.670+1G=)
c.211+1G= (n.211+1G=)
c.523+1G= (n.523+1G=)
c.220+1G= (n.220+1G=)
7g.99768353C>GCA368370590CYP3A4c.670+1G>C (n.670+1G>C)
c.211+1G>C (n.211+1G>C)
c.523+1G>C (n.523+1G>C)
c.220+1G>C (n.220+1G>C)
7g.99768353C>TCA368370592CYP3A4c.670+1G>A (n.670+1G>A)
c.211+1G>A (n.211+1G>A)
c.523+1G>A (n.523+1G>A)
c.220+1G>A (n.220+1G>A)
dbSNP gnomAD v2 gnomAD v4
7g.99768354T>ACA368370599CYP3A4c.670A>T (p.Thr224Ser)
c.211A>T (p.Thr71Ser)
c.523A>T (p.Thr175Ser)
c.220A>T (p.Thr74Ser)
c.670A>T (p.Ile224Phe)
7g.99768354T>CCA368370595CYP3A4c.670A>G (p.Thr224Ala)
c.211A>G (p.Thr71Ala)
c.523A>G (p.Thr175Ala)
c.220A>G (p.Thr74Ala)
c.670A>G (p.Ile224Val)
7g.99768354T>GCA368370597CYP3A4c.670A>C (p.Thr224Pro)
c.211A>C (p.Thr71Pro)
c.523A>C (p.Thr175Pro)
c.220A>C (p.Thr74Pro)
c.670A>C (p.Ile224Leu)
7g.99768355T>ACA456690109CYP3A4c.669A>T (p.Ile223=)
c.210A>T (p.Ile70=)
c.522A>T (p.Ile174=)
c.219A>T (p.Ile73=)
7g.99768355T>CCA4369679CYP3A4c.669A>G (p.Ile223Met)
c.210A>G (p.Ile70Met)
c.522A>G (p.Ile174Met)
c.219A>G (p.Ile73Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768355T>GCA456690110CYP3A4c.669A>C (p.Ile223=)
c.210A>C (p.Ile70=)
c.522A>C (p.Ile174=)
c.219A>C (p.Ile73=)
7g.99768355T=CA1729180852CYP3A4c.669A= (p.Ile223=)
c.210A= (p.Ile70=)
c.522A= (p.Ile174=)
c.219A= (p.Ile73=)
7g.99768355_99768361delinsTATTGAGCA1729180854CYP3A4c.663_669delinsCTCAATA (p.Leu221=)
c.204_210delinsCTCAATA (p.Leu68=)
c.516_522delinsCTCAATA (p.Leu172=)
c.213_219delinsCTCAATA (p.Leu71=)
7g.99768356A>CCA368370604CYP3A4c.668T>G (p.Ile223Arg)
c.209T>G (p.Ile70Arg)
c.521T>G (p.Ile174Arg)
c.218T>G (p.Ile73Arg)
7g.99768356A>GCA368370606CYP3A4c.668T>C (p.Ile223Thr)
c.209T>C (p.Ile70Thr)
c.521T>C (p.Ile174Thr)
c.218T>C (p.Ile73Thr)
7g.99768356A>TCA368370608CYP3A4c.668T>A (p.Ile223Lys)
c.209T>A (p.Ile70Lys)
c.521T>A (p.Ile174Lys)
c.218T>A (p.Ile73Lys)
7g.99768357_99768362delCA1729180855CYP3A4c.663_668del (p.Ser222_Ile223del)
c.204_209del (p.Ser69_Ile70del)
c.516_521del (p.Ser173_Ile174del)
c.213_218del (p.Ser72_Ile73del)
dbSNP
7g.99768357T>ACA368370611CYP3A4c.667A>T (p.Ile223Leu)
c.208A>T (p.Ile70Leu)
c.520A>T (p.Ile174Leu)
c.217A>T (p.Ile73Leu)
dbSNP
7g.99768357T>CCA4369680CYP3A4c.667A>G (p.Ile223Val)
c.208A>G (p.Ile70Val)
c.520A>G (p.Ile174Val)
c.217A>G (p.Ile73Val)
dbSNP ExAC gnomAD v4
7g.99768357T>GCA4369681CYP3A4c.667A>C (p.Ile223Leu)
c.208A>C (p.Ile70Leu)
c.520A>C (p.Ile174Leu)
c.217A>C (p.Ile73Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768357T=CA1729180856CYP3A4c.667A= (p.Ile223=)
c.208A= (p.Ile70=)
c.520A= (p.Ile174=)
c.217A= (p.Ile73=)
7g.99768358T>ACA456690111CYP3A4c.666A>T (p.Ser222=)
c.207A>T (p.Ser69=)
c.519A>T (p.Ser173=)
c.216A>T (p.Ser72=)
7g.99768358T>CCA456690112CYP3A4c.666A>G (p.Ser222=)
c.207A>G (p.Ser69=)
c.519A>G (p.Ser173=)
c.216A>G (p.Ser72=)
7g.99768358T>GCA456690113CYP3A4c.666A>C (p.Ser222=)
c.207A>C (p.Ser69=)
c.519A>C (p.Ser173=)
c.216A>C (p.Ser72=)
7g.99768359G>ACA368370615CYP3A4c.665C>T (p.Ser222Leu)
c.206C>T (p.Ser69Leu)
c.518C>T (p.Ser173Leu)
c.215C>T (p.Ser72Leu)
7g.99768359G>CCA368370618CYP3A4c.665C>G (p.Ser222Ter)
c.206C>G (p.Ser69Ter)
c.518C>G (p.Ser173Ter)
c.215C>G (p.Ser72Ter)
7g.99768359G>TCA368370620CYP3A4c.665C>A (p.Ser222Ter)
c.206C>A (p.Ser69Ter)
c.518C>A (p.Ser173Ter)
c.215C>A (p.Ser72Ter)
7g.99768360A=CA1729180857CYP3A4c.664T= (p.Ser222=)
c.205T= (p.Ser69=)
c.517T= (p.Ser173=)
c.214T= (p.Ser72=)
7g.99768360A>CCA368370622CYP3A4c.664T>G (p.Ser222Ala)
c.205T>G (p.Ser69Ala)
c.517T>G (p.Ser173Ala)
c.214T>G (p.Ser72Ala)
7g.99768360A>GCA4369682CYP3A4c.664T>C (p.Ser222Pro)
c.205T>C (p.Ser69Pro)
c.517T>C (p.Ser173Pro)
c.214T>C (p.Ser72Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768360A>TCA368370626CYP3A4c.664T>A (p.Ser222Thr)
c.205T>A (p.Ser69Thr)
c.517T>A (p.Ser173Thr)
c.214T>A (p.Ser72Thr)
dbSNP gnomAD v3 gnomAD v4
7g.99768361G>ACA4369683CYP3A4c.663C>T (p.Leu221=)
c.204C>T (p.Leu68=)
c.516C>T (p.Leu172=)
c.213C>T (p.Leu71=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768361G>CCA456690114CYP3A4c.663C>G (p.Leu221=)
c.204C>G (p.Leu68=)
c.516C>G (p.Leu172=)
c.213C>G (p.Leu71=)
7g.99768361G=CA1729180858CYP3A4c.663C= (p.Leu221=)
c.204C= (p.Leu68=)
c.516C= (p.Leu172=)
c.213C= (p.Leu71=)
7g.99768361G>TCA456690115CYP3A4c.663C>A (p.Leu221=)
c.204C>A (p.Leu68=)
c.516C>A (p.Leu172=)
c.213C>A (p.Leu71=)
7g.99768362A>CCA368370633CYP3A4c.662T>G (p.Leu221Arg)
c.203T>G (p.Leu68Arg)
c.515T>G (p.Leu172Arg)
c.212T>G (p.Leu71Arg)
7g.99768362A>GCA368370631CYP3A4c.662T>C (p.Leu221Pro)
c.203T>C (p.Leu68Pro)
c.515T>C (p.Leu172Pro)
c.212T>C (p.Leu71Pro)
7g.99768362A>TCA368370634CYP3A4c.662T>A (p.Leu221His)
c.203T>A (p.Leu68His)
c.515T>A (p.Leu172His)
c.212T>A (p.Leu71His)
7g.99768366_99768369delCA2578955196CYP3A4c.659_662del (p.Phe220SerfsTer3)
c.200_203del (p.Phe67SerfsTer3)
c.512_515del (p.Phe171SerfsTer3)
c.209_212del (p.Phe70SerfsTer3)
7g.99768363G>ACA368370635CYP3A4c.661C>T (p.Leu221Phe)
c.202C>T (p.Leu68Phe)
c.514C>T (p.Leu172Phe)
c.211C>T (p.Leu71Phe)
7g.99768363G>CCA368370636CYP3A4c.661C>G (p.Leu221Val)
c.202C>G (p.Leu68Val)
c.514C>G (p.Leu172Val)
c.211C>G (p.Leu71Val)
7g.99768363G>TCA368370637CYP3A4c.661C>A (p.Leu221Ile)
c.202C>A (p.Leu68Ile)
c.514C>A (p.Leu172Ile)
c.211C>A (p.Leu71Ile)
7g.99768364A>CCA368370639CYP3A4c.660T>G (p.Phe220Leu)
c.201T>G (p.Phe67Leu)
c.513T>G (p.Phe171Leu)
c.210T>G (p.Phe70Leu)
7g.99768364A>GCA456690116CYP3A4c.660T>C (p.Phe220=)
c.201T>C (p.Phe67=)
c.513T>C (p.Phe171=)
c.210T>C (p.Phe70=)
7g.99768364A>TCA368370641CYP3A4c.660T>A (p.Phe220Leu)
c.201T>A (p.Phe67Leu)
c.513T>A (p.Phe171Leu)
c.210T>A (p.Phe70Leu)
7g.99768365A=CA1729180859CYP3A4c.659T= (p.Phe220=)
c.200T= (p.Phe67=)
c.512T= (p.Phe171=)
c.209T= (p.Phe70=)
7g.99768365A>CCA368370643CYP3A4c.659T>G (p.Phe220Cys)
c.200T>G (p.Phe67Cys)
c.512T>G (p.Phe171Cys)
c.209T>G (p.Phe70Cys)
dbSNP
7g.99768365A>GCA368370645CYP3A4c.659T>C (p.Phe220Ser)
c.200T>C (p.Phe67Ser)
c.512T>C (p.Phe171Ser)
c.209T>C (p.Phe70Ser)
7g.99768365A>TCA368370646CYP3A4c.659T>A (p.Phe220Tyr)
c.200T>A (p.Phe67Tyr)
c.512T>A (p.Phe171Tyr)
c.209T>A (p.Phe70Tyr)
7g.99768366A=CA1729180860CYP3A4c.658T= (p.Phe220=)
c.199T= (p.Phe67=)
c.511T= (p.Phe171=)
c.208T= (p.Phe70=)
7g.99768366A>CCA4369684CYP3A4c.658T>G (p.Phe220Val)
c.199T>G (p.Phe67Val)
c.511T>G (p.Phe171Val)
c.208T>G (p.Phe70Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768366A>GCA368370651CYP3A4c.658T>C (p.Phe220Leu)
c.199T>C (p.Phe67Leu)
c.511T>C (p.Phe171Leu)
c.208T>C (p.Phe70Leu)
7g.99768366A>TCA368370653CYP3A4c.658T>A (p.Phe220Ile)
c.199T>A (p.Phe67Ile)
c.511T>A (p.Phe171Ile)
c.208T>A (p.Phe70Ile)
7g.99768367G>ACA456690117CYP3A4c.657C>T (p.Phe219=)
c.198C>T (p.Phe66=)
c.510C>T (p.Phe170=)
c.207C>T (p.Phe69=)
7g.99768367G>CCA368370655CYP3A4c.657C>G (p.Phe219Leu)
c.198C>G (p.Phe66Leu)
c.510C>G (p.Phe170Leu)
c.207C>G (p.Phe69Leu)
7g.99768367G>TCA368370656CYP3A4c.657C>A (p.Phe219Leu)
c.198C>A (p.Phe66Leu)
c.510C>A (p.Phe170Leu)
c.207C>A (p.Phe69Leu)
COSMIC
7g.99768368A>CCA368370658CYP3A4c.656T>G (p.Phe219Cys)
c.197T>G (p.Phe66Cys)
c.509T>G (p.Phe170Cys)
c.206T>G (p.Phe69Cys)
7g.99768368A>GCA368370663CYP3A4c.656T>C (p.Phe219Ser)
c.197T>C (p.Phe66Ser)
c.509T>C (p.Phe170Ser)
c.206T>C (p.Phe69Ser)
7g.99768368A>TCA368370661CYP3A4c.656T>A (p.Phe219Tyr)
c.197T>A (p.Phe66Tyr)
c.509T>A (p.Phe170Tyr)
c.206T>A (p.Phe69Tyr)
7g.99768369A=CA1729180861CYP3A4c.655T= (p.Phe219=)
c.196T= (p.Phe66=)
c.508T= (p.Phe170=)
c.205T= (p.Phe69=)
7g.99768369A>CCA368370665CYP3A4c.655T>G (p.Phe219Val)
c.196T>G (p.Phe66Val)
c.508T>G (p.Phe170Val)
c.205T>G (p.Phe69Val)
7g.99768369A>GCA4369685CYP3A4c.655T>C (p.Phe219Leu)
c.196T>C (p.Phe66Leu)
c.508T>C (p.Phe170Leu)
c.205T>C (p.Phe69Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768369A>TCA368370668CYP3A4c.655T>A (p.Phe219Ile)
c.196T>A (p.Phe66Ile)
c.508T>A (p.Phe170Ile)
c.205T>A (p.Phe69Ile)
7g.99768370T>ACA456690118CYP3A4c.654A>T (p.Pro218=)
c.195A>T (p.Pro65=)
c.507A>T (p.Pro169=)
c.204A>T (p.Pro68=)
7g.99768370T>CCA456690120CYP3A4c.654A>G (p.Pro218=)
c.195A>G (p.Pro65=)
c.507A>G (p.Pro169=)
c.204A>G (p.Pro68=)
7g.99768370T>GCA456690119CYP3A4c.654A>C (p.Pro218=)
c.195A>C (p.Pro65=)
c.507A>C (p.Pro169=)
c.204A>C (p.Pro68=)
7g.99768371G>ACA368370671CYP3A4c.653C>T (p.Pro218Leu)
c.194C>T (p.Pro65Leu)
c.506C>T (p.Pro169Leu)
c.203C>T (p.Pro68Leu)
COSMIC
7g.99768371G>CCA4369686CYP3A4c.653C>G (p.Pro218Arg)
c.194C>G (p.Pro65Arg)
c.506C>G (p.Pro169Arg)
c.203C>G (p.Pro68Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768371G=CA1729180862CYP3A4c.653C= (p.Pro218=)
c.194C= (p.Pro65=)
c.506C= (p.Pro169=)
c.203C= (p.Pro68=)
7g.99768371G>TCA368370675CYP3A4c.653C>A (p.Pro218Gln)
c.194C>A (p.Pro65Gln)
c.506C>A (p.Pro169Gln)
c.203C>A (p.Pro68Gln)
7g.99768372G>ACA368370678CYP3A4c.652C>T (p.Pro218Ser)
c.193C>T (p.Pro65Ser)
c.505C>T (p.Pro169Ser)
c.202C>T (p.Pro68Ser)
7g.99768372G>CCA368370679CYP3A4c.652C>G (p.Pro218Ala)
c.193C>G (p.Pro65Ala)
c.505C>G (p.Pro169Ala)
c.202C>G (p.Pro68Ala)
7g.99768372G>TCA368370682CYP3A4c.652C>A (p.Pro218Thr)
c.193C>A (p.Pro65Thr)
c.505C>A (p.Pro169Thr)
c.202C>A (p.Pro68Thr)
dbSNP gnomAD v4
7g.99768373A>CCA368370685CYP3A4c.651T>G (p.Asp217Glu)
c.192T>G (p.Asp64Glu)
c.504T>G (p.Asp168Glu)
c.201T>G (p.Asp67Glu)
7g.99768373A>GCA456690121CYP3A4c.651T>C (p.Asp217=)
c.192T>C (p.Asp64=)
c.504T>C (p.Asp168=)
c.201T>C (p.Asp67=)
7g.99768373A>TCA368370687CYP3A4c.651T>A (p.Asp217Glu)
c.192T>A (p.Asp64Glu)
c.504T>A (p.Asp168Glu)
c.201T>A (p.Asp67Glu)
7g.99768374T>ACA368370693CYP3A4c.650A>T (p.Asp217Val)
c.191A>T (p.Asp64Val)
c.503A>T (p.Asp168Val)
c.200A>T (p.Asp67Val)
dbSNP gnomAD v4
7g.99768374T>CCA368370695CYP3A4c.650A>G (p.Asp217Gly)
c.191A>G (p.Asp64Gly)
c.503A>G (p.Asp168Gly)
c.200A>G (p.Asp67Gly)
7g.99768374T>GCA368370690CYP3A4c.650A>C (p.Asp217Ala)
c.191A>C (p.Asp64Ala)
c.503A>C (p.Asp168Ala)
c.200A>C (p.Asp67Ala)
7g.99768374T=CA1729180863CYP3A4c.650A= (p.Asp217=)
c.191A= (p.Asp64=)
c.503A= (p.Asp168=)
c.200A= (p.Asp67=)
7g.99768375C>ACA368370698CYP3A4c.649G>T (p.Asp217Tyr)
c.190G>T (p.Asp64Tyr)
c.502G>T (p.Asp168Tyr)
c.199G>T (p.Asp67Tyr)
7g.99768375C=CA1729180864CYP3A4c.649G= (p.Asp217=)
c.190G= (p.Asp64=)
c.502G= (p.Asp168=)
c.199G= (p.Asp67=)
7g.99768375C>GCA368370700CYP3A4c.649G>C (p.Asp217His)
c.190G>C (p.Asp64His)
c.502G>C (p.Asp168His)
c.199G>C (p.Asp67His)
7g.99768375C>TCA368370702CYP3A4c.649G>A (p.Asp217Asn)
c.190G>A (p.Asp64Asn)
c.502G>A (p.Asp168Asn)
c.199G>A (p.Asp67Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.99768376C>ACA4369689CYP3A4c.648G>T (p.Leu216Phe)
c.189G>T (p.Leu63Phe)
c.501G>T (p.Leu167Phe)
c.198G>T (p.Leu66Phe)
dbSNP ExAC gnomAD v2
7g.99768376C=CA1729180866CYP3A4c.648G= (p.Leu216=)
c.189G= (p.Leu63=)
c.501G= (p.Leu167=)
c.198G= (p.Leu66=)
7g.99768376C>GCA4369688CYP3A4c.648G>C (p.Leu216Phe)
c.189G>C (p.Leu63Phe)
c.501G>C (p.Leu167Phe)
c.198G>C (p.Leu66Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.99768376C>TCA456690122CYP3A4c.648G>A (p.Leu216=)
c.189G>A (p.Leu63=)
c.501G>A (p.Leu167=)
c.198G>A (p.Leu66=)
7g.99768376_99768379delinsCAAACA1729180865CYP3A4c.645_648delinsTTTG (p.Phe215=)
c.186_189delinsTTTG (p.Phe62=)
c.498_501delinsTTTG (p.Phe166=)
c.195_198delinsTTTG (p.Phe65=)
7g.99768377A>CCA368370710CYP3A4c.647T>G (p.Leu216Trp)
c.188T>G (p.Leu63Trp)
c.500T>G (p.Leu167Trp)
c.197T>G (p.Leu66Trp)
7g.99768377A>GCA368370711CYP3A4c.647T>C (p.Leu216Ser)
c.188T>C (p.Leu63Ser)
c.500T>C (p.Leu167Ser)
c.197T>C (p.Leu66Ser)
7g.99768377A>TCA368370714CYP3A4c.647T>A (p.Leu216Ter)
c.188T>A (p.Leu63Ter)
c.500T>A (p.Leu167Ter)
c.197T>A (p.Leu66Ter)
7g.99768382dupCA4369687CYP3A4c.647dup (p.Leu216PhefsTer19)
c.188dup (p.Leu63PhefsTer19)
c.500dup (p.Leu167PhefsTer19)
c.197dup (p.Leu66PhefsTer19)
c.647dup (p.Leu216PhefsTer18)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768380_99768382delCA844514431CYP3A4c.645_647del (p.Phe215del)
c.186_188del (p.Phe62del)
c.498_500del (p.Phe166del)
c.195_197del (p.Phe65del)
dbSNP
7g.99768378A>CCA368370716CYP3A4c.646T>G (p.Leu216Val)
c.187T>G (p.Leu63Val)
c.499T>G (p.Leu167Val)
c.196T>G (p.Leu66Val)
7g.99768378A>GCA456690123CYP3A4c.646T>C (p.Leu216=)
c.187T>C (p.Leu63=)
c.499T>C (p.Leu167=)
c.196T>C (p.Leu66=)
dbSNP
7g.99768378A>TCA368370717CYP3A4c.646T>A (p.Leu216Met)
c.187T>A (p.Leu63Met)
c.499T>A (p.Leu167Met)
c.196T>A (p.Leu66Met)
7g.99768379A>CCA368370720CYP3A4c.645T>G (p.Phe215Leu)
c.186T>G (p.Phe62Leu)
c.498T>G (p.Phe166Leu)
c.195T>G (p.Phe65Leu)
7g.99768379A>GCA456690124CYP3A4c.645T>C (p.Phe215=)
c.186T>C (p.Phe62=)
c.498T>C (p.Phe166=)
c.195T>C (p.Phe65=)
7g.99768379A>TCA368370722CYP3A4c.645T>A (p.Phe215Leu)
c.186T>A (p.Phe62Leu)
c.498T>A (p.Phe166Leu)
c.195T>A (p.Phe65Leu)
7g.99768380A>CCA368370728CYP3A4c.644T>G (p.Phe215Cys)
c.185T>G (p.Phe62Cys)
c.497T>G (p.Phe166Cys)
c.194T>G (p.Phe65Cys)
7g.99768380A>GCA368370726CYP3A4c.644T>C (p.Phe215Ser)
c.185T>C (p.Phe62Ser)
c.497T>C (p.Phe166Ser)
c.194T>C (p.Phe65Ser)
7g.99768380A>TCA368370725CYP3A4c.644T>A (p.Phe215Tyr)
c.185T>A (p.Phe62Tyr)
c.497T>A (p.Phe166Tyr)
c.194T>A (p.Phe65Tyr)
7g.99768381A>CCA368370730CYP3A4c.643T>G (p.Phe215Val)
c.184T>G (p.Phe62Val)
c.496T>G (p.Phe166Val)
c.193T>G (p.Phe65Val)
7g.99768381A>GCA368370732CYP3A4c.643T>C (p.Phe215Leu)
c.184T>C (p.Phe62Leu)
c.496T>C (p.Phe166Leu)
c.193T>C (p.Phe65Leu)
7g.99768381A>TCA368370734CYP3A4c.643T>A (p.Phe215Ile)
c.184T>A (p.Phe62Ile)
c.496T>A (p.Phe166Ile)
c.193T>A (p.Phe65Ile)
7g.99768382A>CCA368370736CYP3A4c.642T>G (p.Asp214Glu)
c.183T>G (p.Asp61Glu)
c.495T>G (p.Asp165Glu)
c.192T>G (p.Asp64Glu)
7g.99768382A>GCA456690125CYP3A4c.642T>C (p.Asp214=)
c.183T>C (p.Asp61=)
c.495T>C (p.Asp165=)
c.192T>C (p.Asp64=)
gnomAD v4
7g.99768382A>TCA368370738CYP3A4c.642T>A (p.Asp214Glu)
c.183T>A (p.Asp61Glu)
c.495T>A (p.Asp165Glu)
c.192T>A (p.Asp64Glu)
7g.99768383T>ACA368370741CYP3A4c.641A>T (p.Asp214Val)
c.182A>T (p.Asp61Val)
c.494A>T (p.Asp165Val)
c.191A>T (p.Asp64Val)
7g.99768383T>CCA4369690CYP3A4c.641A>G (p.Asp214Gly)
c.182A>G (p.Asp61Gly)
c.494A>G (p.Asp165Gly)
c.191A>G (p.Asp64Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.99768383T>GCA368370745CYP3A4c.641A>C (p.Asp214Ala)
c.182A>C (p.Asp61Ala)
c.494A>C (p.Asp165Ala)
c.191A>C (p.Asp64Ala)
7g.99768383T=CA1729180867CYP3A4c.641A= (p.Asp214=)
c.182A= (p.Asp61=)
c.494A= (p.Asp165=)
c.191A= (p.Asp64=)

Number of alleles fetched