Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.64624339_64624342del | CA2687454815 | CYP7B1 | c.259+64_259+67del (n.259+64_259+67del) c.325+64_325+67del (n.325+64_325+67del) | gnomAD v4 |
8 | g.64624341G>A | CA2506663649 | CYP7B1 | c.259+62C>T (n.259+62C>T) c.325+62C>T (n.325+62C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64624341G>T | CA2687454817 | CYP7B1 | c.259+62C>A (n.259+62C>A) c.325+62C>A (n.325+62C>A) | gnomAD v4 |
8 | g.64624343C>A | CA2687454818 | CYP7B1 | c.259+60G>T (n.259+60G>T) c.325+60G>T (n.325+60G>T) | gnomAD v4 |
8 | g.64624343C>T | CA2687454819 | CYP7B1 | c.259+60G>A (n.259+60G>A) c.325+60G>A (n.325+60G>A) | gnomAD v4 |
8 | g.64624345T>C | CA2687454820 | CYP7B1 | c.259+58A>G (n.259+58A>G) c.325+58A>G (n.325+58A>G) | gnomAD v4 |
8 | g.64624346T>A | CA2687454821 | CYP7B1 | c.259+57A>T (n.259+57A>T) c.325+57A>T (n.325+57A>T) | gnomAD v4 |
8 | g.64624346_64624347delinsTA | CA1789667970 | CYP7B1 | c.259+56_259+57delinsTA (n.259+56_259+57delinsTA) c.325+56_325+57delinsTA (n.325+56_325+57delinsTA) | |
8 | g.64624347A= | CA1789667971 | CYP7B1 | c.259+56T= (n.259+56T=) c.325+56T= (n.325+56T=) | |
8 | g.64624347A>G | CA178391911 | CYP7B1 | c.259+56T>C (n.259+56T>C) c.325+56T>C (n.325+56T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64624349del | CA582409075 | CYP7B1 | c.259+56del (n.259+56del) c.325+56del (n.325+56del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624348A>C | CA2687454822 | CYP7B1 | c.259+55T>G (n.259+55T>G) c.325+55T>G (n.325+55T>G) | gnomAD v4 |
8 | g.64624349A= | CA1789667972 | CYP7B1 | c.259+54T= (n.259+54T=) c.325+54T= (n.325+54T=) | |
8 | g.64624349A>T | CA854272807 | CYP7B1 | c.259+54T>A (n.259+54T>A) c.325+54T>A (n.325+54T>A) | dbSNP |
8 | g.64624350G>A | CA2687454823 | CYP7B1 | c.259+53C>T (n.259+53C>T) c.325+53C>T (n.325+53C>T) | gnomAD v4 |
8 | g.64624350G>T | CA2687454824 | CYP7B1 | c.259+53C>A (n.259+53C>A) c.325+53C>A (n.325+53C>A) | gnomAD v4 |
8 | g.64624351A>C | CA2687454825 | CYP7B1 | c.259+52T>G (n.259+52T>G) c.325+52T>G (n.325+52T>G) | gnomAD v4 |
8 | g.64624352A= | CA1789667973 | CYP7B1 | c.259+51T= (n.259+51T=) c.325+51T= (n.325+51T=) | |
8 | g.64624352A>T | CA582409076 | CYP7B1 | c.259+51T>A (n.259+51T>A) c.325+51T>A (n.325+51T>A) | dbSNP gnomAD v2 |
8 | g.64624353del | CA2687454827 | CYP7B1 | c.259+50del (n.259+50del) c.325+50del (n.325+50del) | gnomAD v4 |
8 | g.64624353C>A | CA2687454826 | CYP7B1 | c.259+50G>T (n.259+50G>T) c.325+50G>T (n.325+50G>T) | gnomAD v4 |
8 | g.64624353C= | CA1789667974 | CYP7B1 | c.259+50G= (n.259+50G=) c.325+50G= (n.325+50G=) | |
8 | g.64624353C>T | CA582409077 | CYP7B1 | c.259+50G>A (n.259+50G>A) c.325+50G>A (n.325+50G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624354A>T | CA2687454828 | CYP7B1 | c.259+49T>A (n.259+49T>A) c.325+49T>A (n.325+49T>A) | gnomAD v4 |
8 | g.64624355A>C | CA2687454829 | CYP7B1 | c.259+48T>G (n.259+48T>G) c.325+48T>G (n.325+48T>G) | gnomAD v4 |
8 | g.64624355A>T | CA651842111 | CYP7B1 | c.259+48T>A (n.259+48T>A) c.325+48T>A (n.325+48T>A) | COSMIC |
8 | g.64624355_64624356delinsAG | CA1789667975 | CYP7B1 | c.259+47_259+48delinsCT (n.259+47_259+48delinsCT) c.325+47_325+48delinsCT (n.325+47_325+48delinsCT) | |
8 | g.64624356del | CA582409078 | CYP7B1 | c.259+47del (n.259+47del) c.325+47del (n.325+47del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624356G>C | CA4764257 | CYP7B1 | c.259+47C>G (n.259+47C>G) c.325+47C>G (n.325+47C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624356G= | CA1789667976 | CYP7B1 | c.259+47C= (n.259+47C=) c.325+47C= (n.325+47C=) | |
8 | g.64624356G>T | CA2687454830 | CYP7B1 | c.259+47C>A (n.259+47C>A) c.325+47C>A (n.325+47C>A) | gnomAD v4 |
8 | g.64624357_64624358del | CA915640136 | CYP7B1 | c.259+46_259+47del (n.259+46_259+47del) c.325+46_325+47del (n.325+46_325+47del) | gnomAD v2 |
8 | g.64624357T>C | CA178391915 | CYP7B1 | c.259+46A>G (n.259+46A>G) c.325+46A>G (n.325+46A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624357T>G | CA4764258 | CYP7B1 | c.259+46A>C (n.259+46A>C) c.325+46A>C (n.325+46A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624357T= | CA1789667977 | CYP7B1 | c.259+46A= (n.259+46A=) c.325+46A= (n.325+46A=) | |
8 | g.64624358G>A | CA582409081 | CYP7B1 | c.259+45C>T (n.259+45C>T) c.325+45C>T (n.325+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624358G= | CA1789667978 | CYP7B1 | c.259+45C= (n.259+45C=) c.325+45C= (n.325+45C=) | |
8 | g.64624358G>T | CA651842112 | CYP7B1 | c.259+45C>A (n.259+45C>A) c.325+45C>A (n.325+45C>A) | COSMIC |
8 | g.64624359A>G | CA2579176609 | CYP7B1 | c.259+44T>C (n.259+44T>C) c.325+44T>C (n.325+44T>C) | gnomAD v4 |
8 | g.64624363del | CA2687454831 | CYP7B1 | c.259+44del (n.259+44del) c.325+44del (n.325+44del) | gnomAD v4 |
8 | g.64624360A>T | CA2579176610 | CYP7B1 | c.259+43T>A (n.259+43T>A) c.325+43T>A (n.325+43T>A) | |
8 | g.64624360_64624361insGTCTACATGGGCG | CA915640137 | CYP7B1 | c.259+42_259+43insCGCCCATGTAGAC (n.259+42_259+43insCGCCCATGTAGAC) c.325+42_325+43insCGCCCATGTAGAC (n.325+42_325+43insCGCCCATGTAGAC) | gnomAD v2 |
8 | g.64624364T>A | CA2687454832 | CYP7B1 | c.259+39A>T (n.259+39A>T) c.325+39A>T (n.325+39A>T) | gnomAD v4 |
8 | g.64624364T>C | CA4764259 | CYP7B1 | c.259+39A>G (n.259+39A>G) c.325+39A>G (n.325+39A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624364T= | CA1789667979 | CYP7B1 | c.259+39A= (n.259+39A=) c.325+39A= (n.325+39A=) | |
8 | g.64624364_64624365insTCC | CA915640138 | CYP7B1 | c.259+38_259+39insGGA (n.259+38_259+39insGGA) c.325+38_325+39insGGA (n.325+38_325+39insGGA) | gnomAD v2 |
8 | g.64624365G>C | CA2687454833 | CYP7B1 | c.259+38C>G (n.259+38C>G) c.325+38C>G (n.325+38C>G) | gnomAD v4 |
8 | g.64624365G>T | CA2687454834 | CYP7B1 | c.259+38C>A (n.259+38C>A) c.325+38C>A (n.325+38C>A) | dbSNP gnomAD v4 |
8 | g.64624365_64624366insCTC | CA915640139 | CYP7B1 | c.259+37_259+38insGAG (n.259+37_259+38insGAG) c.325+37_325+38insGAG (n.325+37_325+38insGAG) | gnomAD v2 |
8 | g.64624366A>G | CA2687454835 | CYP7B1 | c.259+37T>C (n.259+37T>C) c.325+37T>C (n.325+37T>C) | gnomAD v4 |
8 | g.64624367T>C | CA2687454837 | CYP7B1 | c.259+36A>G (n.259+36A>G) c.325+36A>G (n.325+36A>G) | gnomAD v4 |
8 | g.64624367T>G | CA2687454836 | CYP7B1 | c.259+36A>C (n.259+36A>C) c.325+36A>C (n.325+36A>C) | gnomAD v4 |
8 | g.64624368G>T | CA2687454838 | CYP7B1 | c.259+35C>A (n.259+35C>A) c.325+35C>A (n.325+35C>A) | gnomAD v4 |
8 | g.64624369A>G | CA2687454839 | CYP7B1 | c.259+34T>C (n.259+34T>C) c.325+34T>C (n.325+34T>C) | gnomAD v4 |
8 | g.64624370_64624371insGG | CA915640141 | CYP7B1 | c.259+32_259+33insCC (n.259+32_259+33insCC) c.325+32_325+33insCC (n.325+32_325+33insCC) | gnomAD v2 |
8 | g.64624371A= | CA1789667980 | CYP7B1 | c.259+32T= (n.259+32T=) c.325+32T= (n.325+32T=) | |
8 | g.64624371A>C | CA178391920 | CYP7B1 | c.259+32T>G (n.259+32T>G) c.325+32T>G (n.325+32T>G) | dbSNP |
8 | g.64624371A>G | CA4764260 | CYP7B1 | c.259+32T>C (n.259+32T>C) c.325+32T>C (n.325+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624376_64624377del | CA2579176611 | CYP7B1 | c.259+31_259+32del (n.259+31_259+32del) c.325+31_325+32del (n.325+31_325+32del) | |
8 | g.64624372T>C | CA915640142 | CYP7B1 | c.259+31A>G (n.259+31A>G) c.325+31A>G (n.325+31A>G) | gnomAD v2 |
8 | g.64624374T>C | CA582409086 | CYP7B1 | c.259+29A>G (n.259+29A>G) c.325+29A>G (n.325+29A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624374T= | CA1789667981 | CYP7B1 | c.259+29A= (n.259+29A=) c.325+29A= (n.325+29A=) | |
8 | g.64624374_64624376del | CA915640143 | CYP7B1 | c.259+27_259+29del (n.259+27_259+29del) c.325+27_325+29del (n.325+27_325+29del) | gnomAD v2 |
8 | g.64624376T>C | CA4764261 | CYP7B1 | c.259+27A>G (n.259+27A>G) c.325+27A>G (n.325+27A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.64624376T= | CA1789667982 | CYP7B1 | c.259+27A= (n.259+27A=) c.325+27A= (n.325+27A=) | |
8 | g.64624377A= | CA1789667983 | CYP7B1 | c.259+26T= (n.259+26T=) c.325+26T= (n.325+26T=) | |
8 | g.64624377A>C | CA1789667984 | CYP7B1 | c.259+26T>G (n.259+26T>G) c.325+26T>G (n.325+26T>G) | dbSNP |
8 | g.64624377A>G | CA2687454840 | CYP7B1 | c.259+26T>C (n.259+26T>C) c.325+26T>C (n.325+26T>C) | gnomAD v4 |
8 | g.64624378A>C | CA915640144 | CYP7B1 | c.259+25T>G (n.259+25T>G) c.325+25T>G (n.325+25T>G) | gnomAD v2 |
8 | g.64624379G>A | CA582409088 | CYP7B1 | c.259+24C>T (n.259+24C>T) c.325+24C>T (n.325+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624379G= | CA1789667985 | CYP7B1 | c.259+24C= (n.259+24C=) c.325+24C= (n.325+24C=) | |
8 | g.64624380G>T | CA2687454841 | CYP7B1 | c.259+23C>A (n.259+23C>A) c.325+23C>A (n.325+23C>A) | gnomAD v4 |
8 | g.64624381T>A | CA2687454842 | CYP7B1 | c.259+22A>T (n.259+22A>T) c.325+22A>T (n.325+22A>T) | gnomAD v4 |
8 | g.64624382_64624383insCC | CA915640145 | CYP7B1 | c.259+20_259+21insGG (n.259+20_259+21insGG) c.325+20_325+21insGG (n.325+20_325+21insGG) | gnomAD v2 |
8 | g.64624383T>C | CA1789667987 | CYP7B1 | c.259+20A>G (n.259+20A>G) c.325+20A>G (n.325+20A>G) | ClinVar dbSNP gnomAD v4 |
8 | g.64624383T= | CA1789667986 | CYP7B1 | c.259+20A= (n.259+20A=) c.325+20A= (n.325+20A=) | |
8 | g.64624386_64624388dup | CA4764262 | CYP7B1 | c.259+17_259+19dup (n.259+17_259+19dup) c.325+17_325+19dup (n.325+17_325+19dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624385A>G | CA2687454843 | CYP7B1 | c.259+18T>C (n.259+18T>C) c.325+18T>C (n.325+18T>C) | gnomAD v4 |
8 | g.64624385_64624392del | CA915640146 | CYP7B1 | c.259+11_259+18del (n.259+11_259+18del) c.325+11_325+18del (n.325+11_325+18del) | gnomAD v2 |
8 | g.64624387T>C | CA4764263 | CYP7B1 | c.259+16A>G (n.259+16A>G) c.325+16A>G (n.325+16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624387T= | CA1789667988 | CYP7B1 | c.259+16A= (n.259+16A=) c.325+16A= (n.325+16A=) | |
8 | g.64624389G>A | CA582409091 | CYP7B1 | c.259+14C>T (n.259+14C>T) c.325+14C>T (n.325+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624389G= | CA1789667989 | CYP7B1 | c.259+14C= (n.259+14C=) c.325+14C= (n.325+14C=) | |
8 | g.64624393T>A | CA178391926 | CYP7B1 | c.259+10A>T (n.259+10A>T) c.325+10A>T (n.325+10A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624393T= | CA1789667990 | CYP7B1 | c.259+10A= (n.259+10A=) c.325+10A= (n.325+10A=) | |
8 | g.64624394G>A | CA2687454844 | CYP7B1 | c.259+9C>T (n.259+9C>T) c.325+9C>T (n.325+9C>T) | gnomAD v4 |
8 | g.64624395C>A | CA2687454845 | CYP7B1 | c.259+8G>T (n.259+8G>T) c.325+8G>T (n.325+8G>T) | gnomAD v4 |
8 | g.64624395_64624398del | CA915640147 | CYP7B1 | c.259+5_259+8del (n.259+5_259+8del) c.325+5_325+8del (n.325+5_325+8del) | gnomAD v2 |
8 | g.64624396T>C | CA2687454846 | CYP7B1 | c.259+7A>G (n.259+7A>G) c.325+7A>G (n.325+7A>G) | gnomAD v4 |
8 | g.64624398C>G | CA2717292735 | CYP7B1 | c.259+5G>C (n.259+5G>C) c.325+5G>C (n.325+5G>C) | dbSNP |
8 | g.64624399T>A | CA2780623684 | CYP7B1 | c.259+4A>T (n.259+4A>T) c.325+4A>T (n.325+4A>T) | |
8 | g.64624400del | CA2687454847 | CYP7B1 | c.259+4del (n.259+4del) c.325+4del (n.325+4del) | gnomAD v4 |
8 | g.64624400T>A | CA2687454848 | CYP7B1 | c.259+3A>T (n.259+3A>T) c.325+3A>T (n.325+3A>T) | gnomAD v4 |
8 | g.64624400T>C | CA2687454849 | CYP7B1 | c.259+3A>G (n.259+3A>G) c.325+3A>G (n.325+3A>G) | gnomAD v4 |
8 | g.64624401A= | CA1789667991 | CYP7B1 | c.259+2T= (n.259+2T=) c.325+2T= (n.325+2T=) | |
8 | g.64624401A>C | CA371338140 | CYP7B1 | c.259+2T>G (n.259+2T>G) c.325+2T>G (n.325+2T>G) | |
8 | g.64624401A>G | CA4764264 | CYP7B1 | c.259+2T>C (n.259+2T>C) c.325+2T>C (n.325+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624401A>T | CA371338144 | CYP7B1 | c.259+2T>A (n.259+2T>A) c.325+2T>A (n.325+2T>A) | |
8 | g.64624402C>A | CA371338146 | CYP7B1 | c.259+1G>T (n.259+1G>T) c.325+1G>T (n.325+1G>T) | |
8 | g.64624402C>G | CA371338149 | CYP7B1 | c.259+1G>C (n.259+1G>C) c.325+1G>C (n.325+1G>C) | gnomAD v4 |
8 | g.64624402C>T | CA371338150 | CYP7B1 | c.259+1G>A (n.259+1G>A) c.325+1G>A (n.325+1G>A) | gnomAD v2 COSMIC |
8 | g.64624403del | CA2537046316 | CYP7B1 | c.259+1del c.325+1del | |
8 | g.64624403C>A | CA371338157 | CYP7B1 | c.259G>T (p.Gly87Ter) c.325G>T (p.Gly109Ter) | |
8 | g.64624403C>G | CA371338155 | CYP7B1 | c.259G>C (p.Gly87Arg) c.325G>C (p.Gly109Arg) | |
8 | g.64624403C>T | CA371338154 | CYP7B1 | c.259G>A (p.Gly87Arg) c.325G>A (p.Gly109Arg) | |
8 | g.64624404A>C | CA461120734 | CYP7B1 | c.258T>G (p.Gly86=) c.324T>G (p.Gly108=) | |
8 | g.64624404A>G | CA461120736 | CYP7B1 | c.258T>C (p.Gly86=) c.324T>C (p.Gly108=) | |
8 | g.64624404A>T | CA461120737 | CYP7B1 | c.258T>A (p.Gly86=) c.324T>A (p.Gly108=) | |
8 | g.64624405C>A | CA371338163 | CYP7B1 | c.257G>T (p.Gly86Val) c.323G>T (p.Gly108Val) | |
8 | g.64624405C>G | CA371338161 | CYP7B1 | c.257G>C (p.Gly86Ala) c.323G>C (p.Gly108Ala) | |
8 | g.64624405C>T | CA371338165 | CYP7B1 | c.257G>A (p.Gly86Asp) c.323G>A (p.Gly108Asp) | |
8 | g.64624405_64624406del | CA915640149 | CYP7B1 | c.256_257del (p.Gly86TrpfsTer21) c.322_323del (p.Gly108TrpfsTer21) | gnomAD v2 |
8 | g.64624406C>A | CA371338169 | CYP7B1 | c.256G>T (p.Gly86Cys) c.322G>T (p.Gly108Cys) | gnomAD v4 |
8 | g.64624406C= | CA1789667992 | CYP7B1 | c.256G= (p.Gly86=) c.322G= (p.Gly108=) | |
8 | g.64624406C>G | CA371338171 | CYP7B1 | c.256G>C (p.Gly86Arg) c.322G>C (p.Gly108Arg) | |
8 | g.64624406C>T | CA371338174 | CYP7B1 | c.256G>A (p.Gly86Ser) c.322G>A (p.Gly108Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.64624406_64624409delinsCAAG | CA1789667993 | CYP7B1 | c.253_256delinsCTTG (p.Leu85=) c.319_322delinsCTTG (p.Leu107=) | |
8 | g.64624407A>C | CA461120751 | CYP7B1 | c.255T>G (p.Leu85=) c.321T>G (p.Leu107=) | |
8 | g.64624407A>G | CA461120749 | CYP7B1 | c.255T>C (p.Leu85=) c.321T>C (p.Leu107=) | |
8 | g.64624407A>T | CA461120747 | CYP7B1 | c.255T>A (p.Leu85=) c.321T>A (p.Leu107=) | |
8 | g.64624412_64624414del | CA582409093 | CYP7B1 | c.253_255del (p.Leu85del) c.319_321del (p.Leu107del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624408A>C | CA371338176 | CYP7B1 | c.254T>G (p.Leu85Arg) c.320T>G (p.Leu107Arg) | |
8 | g.64624408A>G | CA371338179 | CYP7B1 | c.254T>C (p.Leu85Pro) c.320T>C (p.Leu107Pro) | gnomAD v4 COSMIC |
8 | g.64624408A>T | CA371338181 | CYP7B1 | c.254T>A (p.Leu85His) c.320T>A (p.Leu107His) | |
8 | g.64624409G>A | CA371338188 | CYP7B1 | c.253C>T (p.Leu85Phe) c.319C>T (p.Leu107Phe) | gnomAD v4 |
8 | g.64624409G>C | CA371338186 | CYP7B1 | c.253C>G (p.Leu85Val) c.319C>G (p.Leu107Val) | |
8 | g.64624409G>T | CA371338184 | CYP7B1 | c.253C>A (p.Leu85Ile) c.319C>A (p.Leu107Ile) | |
8 | g.64624410A>C | CA461120760 | CYP7B1 | c.252T>G (p.Leu84=) c.318T>G (p.Leu106=) | |
8 | g.64624410A>G | CA461120762 | CYP7B1 | c.252T>C (p.Leu84=) c.318T>C (p.Leu106=) | |
8 | g.64624410A>T | CA461120764 | CYP7B1 | c.252T>A (p.Leu84=) c.318T>A (p.Leu106=) | |
8 | g.64624411A= | CA1789667994 | CYP7B1 | c.251T= (p.Leu84=) c.317T= (p.Leu106=) | |
8 | g.64624411A>C | CA178391930 | CYP7B1 | c.251T>G (p.Leu84Arg) c.317T>G (p.Leu106Arg) | ClinVar dbSNP |
8 | g.64624411A>G | CA371338191 | CYP7B1 | c.251T>C (p.Leu84Pro) c.317T>C (p.Leu106Pro) | |
8 | g.64624411A>T | CA371338194 | CYP7B1 | c.251T>A (p.Leu84His) c.317T>A (p.Leu106His) | |
8 | g.64624411_64624412delinsAG | CA1789667995 | CYP7B1 | c.250_251delinsCT (p.Leu84=) c.316_317delinsCT (p.Leu106=) | |
8 | g.64624412del | CA582409094 | CYP7B1 | c.250del (p.Leu84PhefsTer7) c.316del (p.Leu106PhefsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624412G>A | CA4764265 | CYP7B1 | c.250C>T (p.Leu84Phe) c.316C>T (p.Leu106Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624412G>C | CA371338201 | CYP7B1 | c.250C>G (p.Leu84Val) c.316C>G (p.Leu106Val) | |
8 | g.64624412G= | CA1789667996 | CYP7B1 | c.250C= (p.Leu84=) c.316C= (p.Leu106=) | |
8 | g.64624412G>T | CA371338203 | CYP7B1 | c.250C>A (p.Leu84Ile) c.316C>A (p.Leu106Ile) | COSMIC |
8 | g.64624413A>C | CA461120774 | CYP7B1 | c.249T>G (p.Val83=) c.315T>G (p.Val105=) | |
8 | g.64624413A>G | CA461120777 | CYP7B1 | c.249T>C (p.Val83=) c.315T>C (p.Val105=) | |
8 | g.64624413A>T | CA461120776 | CYP7B1 | c.249T>A (p.Val83=) c.315T>A (p.Val105=) | |
8 | g.64624414A= | CA1789667997 | CYP7B1 | c.248T= (p.Val83=) c.314T= (p.Val105=) | |
8 | g.64624414A>C | CA4764266 | CYP7B1 | c.248T>G (p.Val83Gly) c.314T>G (p.Val105Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624414A>G | CA4764267 | CYP7B1 | c.248T>C (p.Val83Ala) c.314T>C (p.Val105Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624414A>T | CA371338207 | CYP7B1 | c.248T>A (p.Val83Asp) c.314T>A (p.Val105Asp) | |
8 | g.64624415C>A | CA371338212 | CYP7B1 | c.247G>T (p.Val83Phe) c.313G>T (p.Val105Phe) | |
8 | g.64624415C>G | CA371338215 | CYP7B1 | c.247G>C (p.Val83Leu) c.313G>C (p.Val105Leu) | |
8 | g.64624415C>T | CA371338218 | CYP7B1 | c.247G>A (p.Val83Ile) c.313G>A (p.Val105Ile) | |
8 | g.64624416T>A | CA461120786 | CYP7B1 | c.246A>T (p.Thr82=) c.312A>T (p.Thr104=) | dbSNP |
8 | g.64624416T>C | CA461120788 | CYP7B1 | c.246A>G (p.Thr82=) c.312A>G (p.Thr104=) | ClinVar |
8 | g.64624416T>G | CA461120790 | CYP7B1 | c.246A>C (p.Thr82=) c.312A>C (p.Thr104=) | gnomAD v4 |
8 | g.64624417G>A | CA371338221 | CYP7B1 | c.245C>T (p.Thr82Ile) c.311C>T (p.Thr104Ile) | |
8 | g.64624417G>C | CA371338223 | CYP7B1 | c.245C>G (p.Thr82Arg) c.311C>G (p.Thr104Arg) | gnomAD v4 |
8 | g.64624417G>T | CA371338226 | CYP7B1 | c.245C>A (p.Thr82Lys) c.311C>A (p.Thr104Lys) | |
8 | g.64624418T>A | CA371338229 | CYP7B1 | c.244A>T (p.Thr82Ser) c.310A>T (p.Thr104Ser) | |
8 | g.64624418T>C | CA371338231 | CYP7B1 | c.244A>G (p.Thr82Ala) c.310A>G (p.Thr104Ala) | |
8 | g.64624418T>G | CA371338234 | CYP7B1 | c.244A>C (p.Thr82Pro) c.310A>C (p.Thr104Pro) | |
8 | g.64624419G>A | CA461120797 | CYP7B1 | c.243C>T (p.Phe81=) c.309C>T (p.Phe103=) | |
8 | g.64624419G>C | CA371338238 | CYP7B1 | c.243C>G (p.Phe81Leu) c.309C>G (p.Phe103Leu) | |
8 | g.64624419G>T | CA371338241 | CYP7B1 | c.243C>A (p.Phe81Leu) c.309C>A (p.Phe103Leu) | COSMIC |
8 | g.64624420A= | CA1789667998 | CYP7B1 | c.242T= (p.Phe81=) c.308T= (p.Phe103=) | |
8 | g.64624420A>C | CA371338244 | CYP7B1 | c.242T>G (p.Phe81Cys) c.308T>G (p.Phe103Cys) | |
8 | g.64624420A>G | CA371338249 | CYP7B1 | c.242T>C (p.Phe81Ser) c.308T>C (p.Phe103Ser) | dbSNP |
8 | g.64624420A>T | CA178391935 | CYP7B1 | c.242T>A (p.Phe81Tyr) c.308T>A (p.Phe103Tyr) | dbSNP |
8 | g.64624421_64624422del | CA2687454850 | CYP7B1 | c.241_242del (p.Phe81HisfsTer26) c.307_308del (p.Phe103HisfsTer26) | gnomAD v4 |
8 | g.64624421A= | CA1789667999 | CYP7B1 | c.241T= (p.Phe81=) c.307T= (p.Phe103=) | |
8 | g.64624421A>C | CA371338252 | CYP7B1 | c.241T>G (p.Phe81Val) c.307T>G (p.Phe103Val) | |
8 | g.64624421A>G | CA371338254 | CYP7B1 | c.241T>C (p.Phe81Leu) c.307T>C (p.Phe103Leu) | |
8 | g.64624421A>T | CA371338257 | CYP7B1 | c.241T>A (p.Phe81Ile) c.307T>A (p.Phe103Ile) | dbSNP |
8 | g.64624422A= | CA1789668000 | CYP7B1 | c.240T= (p.Thr80=) c.306T= (p.Thr102=) | |
8 | g.64624422A>C | CA461120807 | CYP7B1 | c.240T>G (p.Thr80=) c.306T>G (p.Thr102=) | |
8 | g.64624422A>G | CA461120808 | CYP7B1 | c.240T>C (p.Thr80=) c.306T>C (p.Thr102=) | |
8 | g.64624422A>T | CA461120810 | CYP7B1 | c.240T>A (p.Thr80=) c.306T>A (p.Thr102=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624423G>A | CA371338260 | CYP7B1 | c.239C>T (p.Thr80Ile) c.305C>T (p.Thr102Ile) | |
8 | g.64624423G>C | CA371338261 | CYP7B1 | c.239C>G (p.Thr80Ser) c.305C>G (p.Thr102Ser) | |
8 | g.64624423G= | CA1789668001 | CYP7B1 | c.239C= (p.Thr80=) c.305C= (p.Thr102=) | |
8 | g.64624423G>T | CA371338264 | CYP7B1 | c.239C>A (p.Thr80Asn) c.305C>A (p.Thr102Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624424T>A | CA371338266 | CYP7B1 | c.238A>T (p.Thr80Ser) c.304A>T (p.Thr102Ser) | |
8 | g.64624424T>C | CA371338269 | CYP7B1 | c.238A>G (p.Thr80Ala) c.304A>G (p.Thr102Ala) | |
8 | g.64624424T>G | CA371338270 | CYP7B1 | c.238A>C (p.Thr80Pro) c.304A>C (p.Thr102Pro) | |
8 | g.64624425del | CA2687454851 | CYP7B1 | c.237del (p.Asp79GlufsTer12) c.303del (p.Asp101GlufsTer12) | gnomAD v4 |
8 | g.64624425G>A | CA4764268 | CYP7B1 | c.237C>T (p.Asp79=) c.303C>T (p.Asp101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624425G>C | CA371338273 | CYP7B1 | c.237C>G (p.Asp79Glu) c.303C>G (p.Asp101Glu) | |
8 | g.64624425G= | CA1789668002 | CYP7B1 | c.237C= (p.Asp79=) c.303C= (p.Asp101=) | |
8 | g.64624425G>T | CA371338276 | CYP7B1 | c.237C>A (p.Asp79Glu) c.303C>A (p.Asp101Glu) | |
8 | g.64624426T>A | CA371338284 | CYP7B1 | c.236A>T (p.Asp79Val) c.302A>T (p.Asp101Val) | |
8 | g.64624426T>C | CA371338280 | CYP7B1 | c.236A>G (p.Asp79Gly) c.302A>G (p.Asp101Gly) | |
8 | g.64624426T>G | CA4764269 | CYP7B1 | c.236A>C (p.Asp79Ala) c.302A>C (p.Asp101Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624426T= | CA1789668003 | CYP7B1 | c.236A= (p.Asp79=) c.302A= (p.Asp101=) | |
8 | g.64624427C>A | CA371338289 | CYP7B1 | c.235G>T (p.Asp79Tyr) c.301G>T (p.Asp101Tyr) | |
8 | g.64624427C>G | CA371338291 | CYP7B1 | c.235G>C (p.Asp79His) c.301G>C (p.Asp101His) | |
8 | g.64624427C>T | CA371338293 | CYP7B1 | c.235G>A (p.Asp79Asn) c.301G>A (p.Asp101Asn) | gnomAD v4 |
8 | g.64624427_64624428insTTCAACTGTGAAAGTTCAAAAGCA | CA2687454852 | CYP7B1 | c.234_235insTGCTTTTGAACTTTCACAGTTGAA c.300_301insTGCTTTTGAACTTTCACAGTTGAA | gnomAD v4 |
8 | g.64624428A>C | CA461120831 | CYP7B1 | c.234T>G (p.Gly78=) c.300T>G (p.Gly100=) | |
8 | g.64624428A>G | CA461120828 | CYP7B1 | c.234T>C (p.Gly78=) c.300T>C (p.Gly100=) | |
8 | g.64624428A>T | CA461120829 | CYP7B1 | c.234T>A (p.Gly78=) c.300T>A (p.Gly100=) | |
8 | g.64624429C>A | CA371338297 | CYP7B1 | c.233G>T (p.Gly78Val) c.299G>T (p.Gly100Val) | |
8 | g.64624429C>G | CA371338299 | CYP7B1 | c.233G>C (p.Gly78Ala) c.299G>C (p.Gly100Ala) | COSMIC |
8 | g.64624429C>T | CA371338301 | CYP7B1 | c.233G>A (p.Gly78Asp) c.299G>A (p.Gly100Asp) | |
8 | g.64624430C>A | CA371338304 | CYP7B1 | c.232G>T (p.Gly78Cys) c.298G>T (p.Gly100Cys) | |
8 | g.64624430C= | CA1789668004 | CYP7B1 | c.232G= (p.Gly78=) c.298G= (p.Gly100=) | |
8 | g.64624430C>G | CA371338307 | CYP7B1 | c.232G>C (p.Gly78Arg) c.298G>C (p.Gly100Arg) | |
8 | g.64624430C>T | CA371338309 | CYP7B1 | c.232G>A (p.Gly78Ser) c.298G>A (p.Gly100Ser) | dbSNP gnomAD v4 |
8 | g.64624431A>C | CA371338312 | CYP7B1 | c.231T>G (p.His77Gln) c.297T>G (p.His99Gln) | |
8 | g.64624431A>G | CA461120838 | CYP7B1 | c.231T>C (p.His77=) c.297T>C (p.His99=) | |
8 | g.64624431A>T | CA371338315 | CYP7B1 | c.231T>A (p.His77Gln) c.297T>A (p.His99Gln) | |
8 | g.64624432del | CA2687454853 | CYP7B1 | c.230del (p.His77LeufsTer14) c.296del (p.His99LeufsTer14) | gnomAD v4 |
8 | g.64624432T>A | CA371338325 | CYP7B1 | c.230A>T (p.His77Leu) c.296A>T (p.His99Leu) | dbSNP |
8 | g.64624432T>C | CA371338328 | CYP7B1 | c.230A>G (p.His77Arg) c.296A>G (p.His99Arg) | |
8 | g.64624432T>G | CA371338321 | CYP7B1 | c.230A>C (p.His77Pro) c.296A>C (p.His99Pro) | |
8 | g.64624433G>A | CA4764270 | CYP7B1 | c.229C>T (p.His77Tyr) c.295C>T (p.His99Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.64624433G>C | CA371338330 | CYP7B1 | c.229C>G (p.His77Asp) c.295C>G (p.His99Asp) | |
8 | g.64624433G= | CA1789668005 | CYP7B1 | c.229C= (p.His77=) c.295C= (p.His99=) | |
8 | g.64624433G>T | CA371338334 | CYP7B1 | c.229C>A (p.His77Asn) c.295C>A (p.His99Asn) | dbSNP |
8 | g.64624434T>A | CA371338338 | CYP7B1 | c.228A>T (p.Gln76His) c.294A>T (p.Gln98His) | |
8 | g.64624434T>C | CA461120842 | CYP7B1 | c.228A>G (p.Gln76=) c.294A>G (p.Gln98=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624434T>G | CA371338341 | CYP7B1 | c.228A>C (p.Gln76His) c.294A>C (p.Gln98His) | COSMIC |
8 | g.64624434T= | CA1789668006 | CYP7B1 | c.228A= (p.Gln76=) c.294A= (p.Gln98=) | |
8 | g.64624435T>A | CA371338342 | CYP7B1 | c.227A>T (p.Gln76Leu) c.293A>T (p.Gln98Leu) | |
8 | g.64624435T>C | CA371338344 | CYP7B1 | c.227A>G (p.Gln76Arg) c.293A>G (p.Gln98Arg) | |
8 | g.64624435T>G | CA371338347 | CYP7B1 | c.227A>C (p.Gln76Pro) c.293A>C (p.Gln98Pro) | |
8 | g.64624436G>A | CA371338350 | CYP7B1 | c.226C>T (p.Gln76Ter) c.292C>T (p.Gln98Ter) | gnomAD v4 |
8 | g.64624436G>C | CA371338353 | CYP7B1 | c.226C>G (p.Gln76Glu) c.292C>G (p.Gln98Glu) | |
8 | g.64624436G>T | CA371338356 | CYP7B1 | c.226C>A (p.Gln76Lys) c.292C>A (p.Gln98Lys) | |
8 | g.64624437C>A | CA371338360 | CYP7B1 | c.225G>T (p.Lys75Asn) c.291G>T (p.Lys97Asn) | |
8 | g.64624437C= | CA1789668007 | CYP7B1 | c.225G= (p.Lys75=) c.291G= (p.Lys97=) | |
8 | g.64624437C>G | CA371338362 | CYP7B1 | c.225G>C (p.Lys75Asn) c.291G>C (p.Lys97Asn) | |
8 | g.64624437C>T | CA461120849 | CYP7B1 | c.225G>A (p.Lys75=) c.291G>A (p.Lys97=) | dbSNP |
8 | g.64624438T>A | CA371338373 | CYP7B1 | c.224A>T (p.Lys75Met) c.290A>T (p.Lys97Met) | |
8 | g.64624438T>C | CA371338370 | CYP7B1 | c.224A>G (p.Lys75Arg) c.290A>G (p.Lys97Arg) | |
8 | g.64624438T>G | CA371338367 | CYP7B1 | c.224A>C (p.Lys75Thr) c.290A>C (p.Lys97Thr) | |
8 | g.64624441del | CA2687454854 | CYP7B1 | c.224del (p.Lys75SerfsTer16) c.290del (p.Lys97SerfsTer16) | gnomAD v4 |
8 | g.64624439T>A | CA4764271 | CYP7B1 | c.223A>T (p.Lys75Ter) c.289A>T (p.Lys97Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.64624439T>C | CA371338380 | CYP7B1 | c.223A>G (p.Lys75Glu) c.289A>G (p.Lys97Glu) | |
8 | g.64624439T>G | CA371338382 | CYP7B1 | c.223A>C (p.Lys75Gln) c.289A>C (p.Lys97Gln) | |
8 | g.64624439T= | CA1789668008 | CYP7B1 | c.223A= (p.Lys75=) c.289A= (p.Lys97=) | |
8 | g.64624440T>A | CA371338384 | CYP7B1 | c.222A>T (p.Gln74His) c.288A>T (p.Gln96His) | |
8 | g.64624440T>C | CA461120855 | CYP7B1 | c.222A>G (p.Gln74=) c.288A>G (p.Gln96=) | |
8 | g.64624440T>G | CA371338386 | CYP7B1 | c.222A>C (p.Gln74His) c.288A>C (p.Gln96His) | |
8 | g.64624441T>A | CA371338389 | CYP7B1 | c.221A>T (p.Gln74Leu) c.287A>T (p.Gln96Leu) | |
8 | g.64624441T>C | CA371338393 | CYP7B1 | c.221A>G (p.Gln74Arg) c.287A>G (p.Gln96Arg) | |
8 | g.64624441T>G | CA371338395 | CYP7B1 | c.221A>C (p.Gln74Pro) c.287A>C (p.Gln96Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.64624441T= | CA1789668009 | CYP7B1 | c.221A= (p.Gln74=) c.287A= (p.Gln96=) |