| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31462442G>A | CA8029574 | ARMC5 | c.895G>A (p.Glu299Lys) c.1180G>A (p.Glu394Lys) c.403G>A (p.Glu135Lys) c.212+247G>A c.991G>A (p.Glu331Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462442G>C | CA395732812 | ARMC5 | c.895G>C (p.Glu299Gln) c.1180G>C (p.Glu394Gln) c.403G>C (p.Glu135Gln) c.212+247G>C c.991G>C (p.Glu331Gln) | |
| 16 | g.31462442G= | CA2217060640 | ARMC5 | c.895G= (p.Glu299=) c.1180G= (p.Glu394=) c.403G= (p.Glu135=) c.212+247G= c.991G= (p.Glu331=) | |
| 16 | g.31462442G>T | CA395732810 | ARMC5 | c.895G>T (p.Glu299Ter) c.1180G>T (p.Glu394Ter) c.403G>T (p.Glu135Ter) c.212+247G>T c.991G>T (p.Glu331Ter) | gnomAD v4 |
| 16 | g.31462443A= | CA2217060641 | ARMC5 | c.896A= (p.Glu299=) c.1181A= (p.Glu394=) c.404A= (p.Glu135=) c.212+248A= c.992A= (p.Glu331=) | |
| 16 | g.31462443A>C | CA395732813 | ARMC5 | c.896A>C (p.Glu299Ala) c.1181A>C (p.Glu394Ala) c.404A>C (p.Glu135Ala) c.212+248A>C c.992A>C (p.Glu331Ala) | |
| 16 | g.31462443A>G | CA395732815 | ARMC5 | c.896A>G (p.Glu299Gly) c.1181A>G (p.Glu394Gly) c.404A>G (p.Glu135Gly) c.212+248A>G c.992A>G (p.Glu331Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462443A>T | CA395732817 | ARMC5 | c.896A>T (p.Glu299Val) c.1181A>T (p.Glu394Val) c.404A>T (p.Glu135Val) c.212+248A>T c.992A>T (p.Glu331Val) | gnomAD v4 |
| 16 | g.31462444G>A | CA494933648 | ARMC5 | c.897G>A (p.Glu299=) c.1182G>A (p.Glu394=) c.405G>A (p.Glu135=) c.212+249G>A c.993G>A (p.Glu331=) | |
| 16 | g.31462444G>C | CA395732820 | ARMC5 | c.897G>C (p.Glu299Asp) c.1182G>C (p.Glu394Asp) c.405G>C (p.Glu135Asp) c.212+249G>C c.993G>C (p.Glu331Asp) | |
| 16 | g.31462444G>T | CA395732822 | ARMC5 | c.897G>T (p.Glu299Asp) c.1182G>T (p.Glu394Asp) c.405G>T (p.Glu135Asp) c.212+249G>T c.993G>T (p.Glu331Asp) | gnomAD v4 |
| 16 | g.31462445G>A | CA395732828 | ARMC5 | c.898G>A (p.Gly300Arg) c.1183G>A (p.Gly395Arg) c.406G>A (p.Gly136Arg) c.212+250G>A c.994G>A (p.Gly332Arg) | |
| 16 | g.31462445G>C | CA395732826 | ARMC5 | c.898G>C (p.Gly300Arg) c.1183G>C (p.Gly395Arg) c.406G>C (p.Gly136Arg) c.212+250G>C c.994G>C (p.Gly332Arg) | |
| 16 | g.31462445G>T | CA395732825 | ARMC5 | c.898G>T (p.Gly300Ter) c.1183G>T (p.Gly395Ter) c.406G>T (p.Gly136Ter) c.212+250G>T c.994G>T (p.Gly332Ter) | |
| 16 | g.31462446G>A | CA395732830 | ARMC5 | c.899G>A (p.Gly300Glu) c.1184G>A (p.Gly395Glu) c.407G>A (p.Gly136Glu) c.212+251G>A c.995G>A (p.Gly332Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462446G>C | CA395732831 | ARMC5 | c.899G>C (p.Gly300Ala) c.1184G>C (p.Gly395Ala) c.407G>C (p.Gly136Ala) c.212+251G>C c.995G>C (p.Gly332Ala) | |
| 16 | g.31462446G= | CA2217060642 | ARMC5 | c.899G= (p.Gly300=) c.1184G= (p.Gly395=) c.407G= (p.Gly136=) c.212+251G= c.995G= (p.Gly332=) | |
| 16 | g.31462446G>T | CA395732832 | ARMC5 | c.899G>T (p.Gly300Val) c.1184G>T (p.Gly395Val) c.407G>T (p.Gly136Val) c.212+251G>T c.995G>T (p.Gly332Val) | |
| 16 | g.31462447A>C | CA494933654 | ARMC5 | c.900A>C (p.Gly300=) c.1185A>C (p.Gly395=) c.408A>C (p.Gly136=) c.212+252A>C c.996A>C (p.Gly332=) | |
| 16 | g.31462447A>G | CA494933655 | ARMC5 | c.900A>G (p.Gly300=) c.1185A>G (p.Gly395=) c.408A>G (p.Gly136=) c.212+252A>G c.996A>G (p.Gly332=) | |
| 16 | g.31462447A>T | CA494933656 | ARMC5 | c.900A>T (p.Gly300=) c.1185A>T (p.Gly395=) c.408A>T (p.Gly136=) c.212+252A>T c.996A>T (p.Gly332=) | |
| 16 | g.31462448A= | CA2217060643 | ARMC5 | c.901A= (p.Thr301=) c.1186A= (p.Thr396=) c.409A= (p.Thr137=) c.212+253A= c.997A= (p.Thr333=) | |
| 16 | g.31462448A>C | CA395732833 | ARMC5 | c.901A>C (p.Thr301Pro) c.1186A>C (p.Thr396Pro) c.409A>C (p.Thr137Pro) c.212+253A>C c.997A>C (p.Thr333Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462448A>G | CA395732834 | ARMC5 | c.901A>G (p.Thr301Ala) c.1186A>G (p.Thr396Ala) c.409A>G (p.Thr137Ala) c.212+253A>G c.997A>G (p.Thr333Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462448A>T | CA395732837 | ARMC5 | c.901A>T (p.Thr301Ser) c.1186A>T (p.Thr396Ser) c.409A>T (p.Thr137Ser) c.212+253A>T c.997A>T (p.Thr333Ser) | |
| 16 | g.31462449C>A | CA395732838 | ARMC5 | c.902C>A (p.Thr301Asn) c.1187C>A (p.Thr396Asn) c.410C>A (p.Thr137Asn) c.212+254C>A c.998C>A (p.Thr333Asn) | |
| 16 | g.31462449C>G | CA395732843 | ARMC5 | c.902C>G (p.Thr301Ser) c.1187C>G (p.Thr396Ser) c.410C>G (p.Thr137Ser) c.212+254C>G c.998C>G (p.Thr333Ser) | |
| 16 | g.31462449C>T | CA395732841 | ARMC5 | c.902C>T (p.Thr301Ile) c.1187C>T (p.Thr396Ile) c.410C>T (p.Thr137Ile) c.212+254C>T c.998C>T (p.Thr333Ile) | |
| 16 | g.31462450C>A | CA494933657 | ARMC5 | c.903C>A (p.Thr301=) c.1188C>A (p.Thr396=) c.411C>A (p.Thr137=) c.212+255C>A c.999C>A (p.Thr333=) | |
| 16 | g.31462450C= | CA2217060644 | ARMC5 | c.903C= (p.Thr301=) c.1188C= (p.Thr396=) c.411C= (p.Thr137=) c.212+255C= c.999C= (p.Thr333=) | |
| 16 | g.31462450C>G | CA494933658 | ARMC5 | c.903C>G (p.Thr301=) c.1188C>G (p.Thr396=) c.411C>G (p.Thr137=) c.212+255C>G c.999C>G (p.Thr333=) | |
| 16 | g.31462450C>T | CA280639808 | ARMC5 | c.903C>T (p.Thr301=) c.1188C>T (p.Thr396=) c.411C>T (p.Thr137=) c.212+255C>T c.999C>T (p.Thr333=) | dbSNP gnomAD v4 |
| 16 | g.31462451A>C | CA395732847 | ARMC5 | c.904A>C (p.Ile302Leu) c.1189A>C (p.Ile397Leu) c.412A>C (p.Ile138Leu) c.212+256A>C c.1000A>C (p.Ile334Leu) | |
| 16 | g.31462451A>G | CA395732848 | ARMC5 | c.904A>G (p.Ile302Val) c.1189A>G (p.Ile397Val) c.412A>G (p.Ile138Val) c.212+256A>G c.1000A>G (p.Ile334Val) | gnomAD v4 |
| 16 | g.31462451A>T | CA395732849 | ARMC5 | c.904A>T (p.Ile302Phe) c.1189A>T (p.Ile397Phe) c.412A>T (p.Ile138Phe) c.212+256A>T c.1000A>T (p.Ile334Phe) | |
| 16 | g.31462452T>A | CA395732851 | ARMC5 | c.905T>A (p.Ile302Asn) c.1190T>A (p.Ile397Asn) c.413T>A (p.Ile138Asn) c.212+257T>A c.1001T>A (p.Ile334Asn) | |
| 16 | g.31462452T>C | CA395732853 | ARMC5 | c.905T>C (p.Ile302Thr) c.1190T>C (p.Ile397Thr) c.413T>C (p.Ile138Thr) c.212+257T>C c.1001T>C (p.Ile334Thr) | |
| 16 | g.31462452T>G | CA395732855 | ARMC5 | c.905T>G (p.Ile302Ser) c.1190T>G (p.Ile397Ser) c.413T>G (p.Ile138Ser) c.212+257T>G c.1001T>G (p.Ile334Ser) | |
| 16 | g.31462453T>A | CA494933665 | ARMC5 | c.906T>A (p.Ile302=) c.1191T>A (p.Ile397=) c.414T>A (p.Ile138=) c.212+258T>A c.1002T>A (p.Ile334=) | |
| 16 | g.31462453T>C | CA494933666 | ARMC5 | c.906T>C (p.Ile302=) c.1191T>C (p.Ile397=) c.414T>C (p.Ile138=) c.212+258T>C c.1002T>C (p.Ile334=) | |
| 16 | g.31462453T>G | CA395732856 | ARMC5 | c.906T>G (p.Ile302Met) c.1191T>G (p.Ile397Met) c.414T>G (p.Ile138Met) c.212+258T>G c.1002T>G (p.Ile334Met) | |
| 16 | g.31462454C>A | CA395732859 | ARMC5 | c.907C>A (p.Leu303Met) c.1192C>A (p.Leu398Met) c.415C>A (p.Leu139Met) c.212+259C>A c.1003C>A (p.Leu335Met) | |
| 16 | g.31462454C>G | CA395732860 | ARMC5 | c.907C>G (p.Leu303Val) c.1192C>G (p.Leu398Val) c.415C>G (p.Leu139Val) c.212+259C>G c.1003C>G (p.Leu335Val) | |
| 16 | g.31462454C>T | CA494933667 | ARMC5 | c.907C>T (p.Leu303=) c.1192C>T (p.Leu398=) c.415C>T (p.Leu139=) c.212+259C>T c.1003C>T (p.Leu335=) | gnomAD v4 |
| 16 | g.31462455T>A | CA395732862 | ARMC5 | c.908T>A (p.Leu303Gln) c.1193T>A (p.Leu398Gln) c.416T>A (p.Leu139Gln) c.212+260T>A c.1004T>A (p.Leu335Gln) | |
| 16 | g.31462455T>C | CA395732864 | ARMC5 | c.908T>C (p.Leu303Pro) c.1193T>C (p.Leu398Pro) c.416T>C (p.Leu139Pro) c.212+260T>C c.1004T>C (p.Leu335Pro) | gnomAD v4 |
| 16 | g.31462455T>G | CA395732865 | ARMC5 | c.908T>G (p.Leu303Arg) c.1193T>G (p.Leu398Arg) c.416T>G (p.Leu139Arg) c.212+260T>G c.1004T>G (p.Leu335Arg) | |
| 16 | g.31462456G>A | CA494933669 | ARMC5 | c.909G>A (p.Leu303=) c.1194G>A (p.Leu398=) c.417G>A (p.Leu139=) c.212+261G>A c.1005G>A (p.Leu335=) | |
| 16 | g.31462456G>C | CA8029575 | ARMC5 | c.909G>C (p.Leu303=) c.1194G>C (p.Leu398=) c.417G>C (p.Leu139=) c.212+261G>C c.1005G>C (p.Leu335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462456G= | CA2217060645 | ARMC5 | c.909G= (p.Leu303=) c.1194G= (p.Leu398=) c.417G= (p.Leu139=) c.212+261G= c.1005G= (p.Leu335=) | |
| 16 | g.31462456G>T | CA494933670 | ARMC5 | c.909G>T (p.Leu303=) c.1194G>T (p.Leu398=) c.417G>T (p.Leu139=) c.212+261G>T c.1005G>T (p.Leu335=) | |
| 16 | g.31462457A= | CA2217060646 | ARMC5 | c.910A= (p.Ile304=) c.1195A= (p.Ile399=) c.418A= (p.Ile140=) c.212+262A= c.1006A= (p.Ile336=) | |
| 16 | g.31462457A>C | CA395732871 | ARMC5 | c.910A>C (p.Ile304Leu) c.1195A>C (p.Ile399Leu) c.418A>C (p.Ile140Leu) c.212+262A>C c.1006A>C (p.Ile336Leu) | |
| 16 | g.31462457A>G | CA8029576 | ARMC5 | c.910A>G (p.Ile304Val) c.1195A>G (p.Ile399Val) c.418A>G (p.Ile140Val) c.212+262A>G c.1006A>G (p.Ile336Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462457A>T | CA395732873 | ARMC5 | c.910A>T (p.Ile304Phe) c.1195A>T (p.Ile399Phe) c.418A>T (p.Ile140Phe) c.212+262A>T c.1006A>T (p.Ile336Phe) | |
| 16 | g.31462458T>A | CA395732874 | ARMC5 | c.911T>A (p.Ile304Asn) c.1196T>A (p.Ile399Asn) c.419T>A (p.Ile140Asn) c.212+263T>A c.1007T>A (p.Ile336Asn) | |
| 16 | g.31462458T>C | CA395732876 | ARMC5 | c.911T>C (p.Ile304Thr) c.1196T>C (p.Ile399Thr) c.419T>C (p.Ile140Thr) c.212+263T>C c.1007T>C (p.Ile336Thr) | dbSNP gnomAD v4 |
| 16 | g.31462458T>G | CA395732878 | ARMC5 | c.911T>G (p.Ile304Ser) c.1196T>G (p.Ile399Ser) c.419T>G (p.Ile140Ser) c.212+263T>G c.1007T>G (p.Ile336Ser) | |
| 16 | g.31462458T= | CA2217060647 | ARMC5 | c.911T= (p.Ile304=) c.1196T= (p.Ile399=) c.419T= (p.Ile140=) c.212+263T= c.1007T= (p.Ile336=) | |
| 16 | g.31462459C>A | CA494933675 | ARMC5 | c.912C>A (p.Ile304=) c.1197C>A (p.Ile399=) c.420C>A (p.Ile140=) c.212+264C>A c.1008C>A (p.Ile336=) | |
| 16 | g.31462459C= | CA2217060648 | ARMC5 | c.912C= (p.Ile304=) c.1197C= (p.Ile399=) c.420C= (p.Ile140=) c.212+264C= c.1008C= (p.Ile336=) | |
| 16 | g.31462459C>G | CA395732880 | ARMC5 | c.912C>G (p.Ile304Met) c.1197C>G (p.Ile399Met) c.420C>G (p.Ile140Met) c.212+264C>G c.1008C>G (p.Ile336Met) | |
| 16 | g.31462459C>T | CA8029577 | ARMC5 | c.912C>T (p.Ile304=) c.1197C>T (p.Ile399=) c.420C>T (p.Ile140=) c.212+264C>T c.1008C>T (p.Ile336=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 16 | g.31462460C>A | CA395732883 | ARMC5 | c.913C>A (p.Leu305Ile) c.1198C>A (p.Leu400Ile) c.421C>A (p.Leu141Ile) c.212+265C>A c.1009C>A (p.Leu337Ile) | |
| 16 | g.31462460C= | CA2217060649 | ARMC5 | c.913C= (p.Leu305=) c.1198C= (p.Leu400=) c.421C= (p.Leu141=) c.212+265C= c.1009C= (p.Leu337=) | |
| 16 | g.31462460C>G | CA395732885 | ARMC5 | c.913C>G (p.Leu305Val) c.1198C>G (p.Leu400Val) c.421C>G (p.Leu141Val) c.212+265C>G c.1009C>G (p.Leu337Val) | |
| 16 | g.31462460C>T | CA395732887 | ARMC5 | c.913C>T (p.Leu305Phe) c.1198C>T (p.Leu400Phe) c.421C>T (p.Leu141Phe) c.212+265C>T c.1009C>T (p.Leu337Phe) | dbSNP gnomAD v2 |
| 16 | g.31462461T>A | CA395732891 | ARMC5 | c.914T>A (p.Leu305His) c.1199T>A (p.Leu400His) c.422T>A (p.Leu141His) c.212+266T>A c.1010T>A (p.Leu337His) | gnomAD v4 |
| 16 | g.31462461T>C | CA395732894 | ARMC5 | c.914T>C (p.Leu305Pro) c.1199T>C (p.Leu400Pro) c.422T>C (p.Leu141Pro) c.212+266T>C c.1010T>C (p.Leu337Pro) | |
| 16 | g.31462461T>G | CA395732895 | ARMC5 | c.914T>G (p.Leu305Arg) c.1199T>G (p.Leu400Arg) c.422T>G (p.Leu141Arg) c.212+266T>G c.1010T>G (p.Leu337Arg) | |
| 16 | g.31462462C>A | CA494933679 | ARMC5 | c.915C>A (p.Leu305=) c.1200C>A (p.Leu400=) c.423C>A (p.Leu141=) c.212+267C>A c.1011C>A (p.Leu337=) | |
| 16 | g.31462462C= | CA2217060650 | ARMC5 | c.915C= (p.Leu305=) c.1200C= (p.Leu400=) c.423C= (p.Leu141=) c.212+267C= c.1011C= (p.Leu337=) | |
| 16 | g.31462462C>G | CA494933680 | ARMC5 | c.915C>G (p.Leu305=) c.1200C>G (p.Leu400=) c.423C>G (p.Leu141=) c.212+267C>G c.1011C>G (p.Leu337=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462462C>T | CA8029578 | ARMC5 | c.915C>T (p.Leu305=) c.1200C>T (p.Leu400=) c.423C>T (p.Leu141=) c.212+267C>T c.1011C>T (p.Leu337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462463G>A | CA8029579 | ARMC5 | c.916G>A (p.Ala306Thr) c.1201G>A (p.Ala401Thr) c.424G>A (p.Ala142Thr) c.212+268G>A c.1012G>A (p.Ala338Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462463G>C | CA395732905 | ARMC5 | c.916G>C (p.Ala306Pro) c.1201G>C (p.Ala401Pro) c.424G>C (p.Ala142Pro) c.212+268G>C c.1012G>C (p.Ala338Pro) | |
| 16 | g.31462463G= | CA2217060651 | ARMC5 | c.916G= (p.Ala306=) c.1201G= (p.Ala401=) c.424G= (p.Ala142=) c.212+268G= c.1012G= (p.Ala338=) | |
| 16 | g.31462463G>T | CA395732902 | ARMC5 | c.916G>T (p.Ala306Ser) c.1201G>T (p.Ala401Ser) c.424G>T (p.Ala142Ser) c.212+268G>T c.1012G>T (p.Ala338Ser) | |
| 16 | g.31462464C>A | CA395732909 | ARMC5 | c.917C>A (p.Ala306Asp) c.1202C>A (p.Ala401Asp) c.425C>A (p.Ala142Asp) c.212+269C>A c.1013C>A (p.Ala338Asp) | |
| 16 | g.31462464C>G | CA395732912 | ARMC5 | c.917C>G (p.Ala306Gly) c.1202C>G (p.Ala401Gly) c.425C>G (p.Ala142Gly) c.212+269C>G c.1013C>G (p.Ala338Gly) | gnomAD v4 |
| 16 | g.31462464C>T | CA395732916 | ARMC5 | c.917C>T (p.Ala306Val) c.1202C>T (p.Ala401Val) c.425C>T (p.Ala142Val) c.212+269C>T c.1013C>T (p.Ala338Val) | |
| 16 | g.31462465C>A | CA494933685 | ARMC5 | c.918C>A (p.Ala306=) c.1203C>A (p.Ala401=) c.426C>A (p.Ala142=) c.212+270C>A c.1014C>A (p.Ala338=) | |
| 16 | g.31462465C>G | CA494933687 | ARMC5 | c.918C>G (p.Ala306=) c.1203C>G (p.Ala401=) c.426C>G (p.Ala142=) c.212+270C>G c.1014C>G (p.Ala338=) | |
| 16 | g.31462465C>T | CA494933689 | ARMC5 | c.918C>T (p.Ala306=) c.1203C>T (p.Ala401=) c.426C>T (p.Ala142=) c.212+270C>T c.1014C>T (p.Ala338=) | |
| 16 | g.31462466A>C | CA395732920 | ARMC5 | c.919A>C (p.Asn307His) c.1204A>C (p.Asn402His) c.427A>C (p.Asn143His) c.212+271A>C c.1015A>C (p.Asn339His) | |
| 16 | g.31462466A>G | CA395732923 | ARMC5 | c.919A>G (p.Asn307Asp) c.1204A>G (p.Asn402Asp) c.427A>G (p.Asn143Asp) c.212+271A>G c.1015A>G (p.Asn339Asp) | |
| 16 | g.31462466A>T | CA395732926 | ARMC5 | c.919A>T (p.Asn307Tyr) c.1204A>T (p.Asn402Tyr) c.427A>T (p.Asn143Tyr) c.212+271A>T c.1015A>T (p.Asn339Tyr) | |
| 16 | g.31462467A>C | CA395732929 | ARMC5 | c.920A>C (p.Asn307Thr) c.1205A>C (p.Asn402Thr) c.428A>C (p.Asn143Thr) c.212+272A>C c.1016A>C (p.Asn339Thr) | |
| 16 | g.31462467A>G | CA395732939 | ARMC5 | c.920A>G (p.Asn307Ser) c.1205A>G (p.Asn402Ser) c.428A>G (p.Asn143Ser) c.212+272A>G c.1016A>G (p.Asn339Ser) | gnomAD v4 |
| 16 | g.31462467A>T | CA395732941 | ARMC5 | c.920A>T (p.Asn307Ile) c.1205A>T (p.Asn402Ile) c.428A>T (p.Asn143Ile) c.212+272A>T c.1016A>T (p.Asn339Ile) | |
| 16 | g.31462468C>A | CA395732943 | ARMC5 | c.921C>A (p.Asn307Lys) c.1206C>A (p.Asn402Lys) c.429C>A (p.Asn143Lys) c.212+273C>A c.1017C>A (p.Asn339Lys) | |
| 16 | g.31462468C>G | CA395732945 | ARMC5 | c.921C>G (p.Asn307Lys) c.1206C>G (p.Asn402Lys) c.429C>G (p.Asn143Lys) c.212+273C>G c.1017C>G (p.Asn339Lys) | |
| 16 | g.31462468C>T | CA494933693 | ARMC5 | c.921C>T (p.Asn307=) c.1206C>T (p.Asn402=) c.429C>T (p.Asn143=) c.212+273C>T c.1017C>T (p.Asn339=) | |
| 16 | g.31462469C>A | CA395732948 | ARMC5 | c.922C>A (p.Leu308Met) c.1207C>A (p.Leu403Met) c.430C>A (p.Leu144Met) c.212+274C>A c.1018C>A (p.Leu340Met) | |
| 16 | g.31462469C>G | CA395732949 | ARMC5 | c.922C>G (p.Leu308Val) c.1207C>G (p.Leu403Val) c.430C>G (p.Leu144Val) c.212+274C>G c.1018C>G (p.Leu340Val) | |
| 16 | g.31462469C>T | CA494933694 | ARMC5 | c.922C>T (p.Leu308=) c.1207C>T (p.Leu403=) c.430C>T (p.Leu144=) c.212+274C>T c.1018C>T (p.Leu340=) | |
| 16 | g.31462470T>A | CA395732957 | ARMC5 | c.923T>A (p.Leu308Gln) c.1208T>A (p.Leu403Gln) c.431T>A (p.Leu144Gln) c.212+275T>A c.1019T>A (p.Leu340Gln) | |
| 16 | g.31462470T>C | CA395732954 | ARMC5 | c.923T>C (p.Leu308Pro) c.1208T>C (p.Leu403Pro) c.431T>C (p.Leu144Pro) c.212+275T>C c.1019T>C (p.Leu340Pro) | |
| 16 | g.31462470T>G | CA395732952 | ARMC5 | c.923T>G (p.Leu308Arg) c.1208T>G (p.Leu403Arg) c.431T>G (p.Leu144Arg) c.212+275T>G c.1019T>G (p.Leu340Arg) | |
| 16 | g.31462471G>A | CA494933700 | ARMC5 | c.924G>A (p.Leu308=) c.1209G>A (p.Leu403=) c.432G>A (p.Leu144=) c.212+276G>A c.1020G>A (p.Leu340=) | dbSNP gnomAD v4 |
| 16 | g.31462471G>C | CA494933702 | ARMC5 | c.924G>C (p.Leu308=) c.1209G>C (p.Leu403=) c.432G>C (p.Leu144=) c.212+276G>C c.1020G>C (p.Leu340=) | |
| 16 | g.31462471G>T | CA494933703 | ARMC5 | c.924G>T (p.Leu308=) c.1209G>T (p.Leu403=) c.432G>T (p.Leu144=) c.212+276G>T c.1020G>T (p.Leu340=) | gnomAD v4 |
| 16 | g.31462472T>A | CA395732965 | ARMC5 | c.925T>A (p.Cys309Ser) c.1210T>A (p.Cys404Ser) c.433T>A (p.Cys145Ser) c.212+277T>A c.1021T>A (p.Cys341Ser) | |
| 16 | g.31462472T>C | CA395732961 | ARMC5 | c.925T>C (p.Cys309Arg) c.1210T>C (p.Cys404Arg) c.433T>C (p.Cys145Arg) c.212+277T>C c.1021T>C (p.Cys341Arg) | gnomAD v4 |
| 16 | g.31462472T>G | CA395732964 | ARMC5 | c.925T>G (p.Cys309Gly) c.1210T>G (p.Cys404Gly) c.433T>G (p.Cys145Gly) c.212+277T>G c.1021T>G (p.Cys341Gly) | |
| 16 | g.31462473G>A | CA395732968 | ARMC5 | c.926G>A (p.Cys309Tyr) c.1211G>A (p.Cys404Tyr) c.434G>A (p.Cys145Tyr) c.212+278G>A c.1022G>A (p.Cys341Tyr) | gnomAD v4 |
| 16 | g.31462473G>C | CA395732969 | ARMC5 | c.926G>C (p.Cys309Ser) c.1211G>C (p.Cys404Ser) c.434G>C (p.Cys145Ser) c.212+278G>C c.1022G>C (p.Cys341Ser) | |
| 16 | g.31462473G>T | CA395732970 | ARMC5 | c.926G>T (p.Cys309Phe) c.1211G>T (p.Cys404Phe) c.434G>T (p.Cys145Phe) c.212+278G>T c.1022G>T (p.Cys341Phe) | |
| 16 | g.31462474T>A | CA395732973 | ARMC5 | c.927T>A (p.Cys309Ter) c.1212T>A (p.Cys404Ter) c.435T>A (p.Cys145Ter) c.212+279T>A c.1023T>A (p.Cys341Ter) | |
| 16 | g.31462474T>C | CA494933711 | ARMC5 | c.927T>C (p.Cys309=) c.1212T>C (p.Cys404=) c.435T>C (p.Cys145=) c.212+279T>C c.1023T>C (p.Cys341=) | |
| 16 | g.31462474T>G | CA395732976 | ARMC5 | c.927T>G (p.Cys309Trp) c.1212T>G (p.Cys404Trp) c.435T>G (p.Cys145Trp) c.212+279T>G c.1023T>G (p.Cys341Trp) | |
| 16 | g.31462475G>A | CA395732980 | ARMC5 | c.928G>A (p.Ala310Thr) c.1213G>A (p.Ala405Thr) c.436G>A (p.Ala146Thr) c.212+280G>A c.1024G>A (p.Ala342Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462475G>C | CA395732983 | ARMC5 | c.928G>C (p.Ala310Pro) c.1213G>C (p.Ala405Pro) c.436G>C (p.Ala146Pro) c.212+280G>C c.1024G>C (p.Ala342Pro) | |
| 16 | g.31462475G= | CA2217060653 | ARMC5 | c.928G= (p.Ala310=) c.1213G= (p.Ala405=) c.436G= (p.Ala146=) c.212+280G= c.1024G= (p.Ala342=) | |
| 16 | g.31462475G>T | CA395732987 | ARMC5 | c.928G>T (p.Ala310Ser) c.1213G>T (p.Ala405Ser) c.436G>T (p.Ala146Ser) c.212+280G>T c.1024G>T (p.Ala342Ser) | gnomAD v4 |
| 16 | g.31462475_31462476delinsAA | CA891863097 | ARMC5 | c.928_929delinsAA (p.Ala310Asn) c.1213_1214delinsAA (p.Ala405Asn) c.436_437delinsAA (p.Ala146Asn) c.212+280_212+281delinsAA c.1024_1025delinsAA (p.Ala342Asn) | ClinVar dbSNP |
| 16 | g.31462475_31462476delinsGC | CA2217060652 | ARMC5 | c.928_929delinsGC (p.Ala310=) c.1213_1214delinsGC (p.Ala405=) c.436_437delinsGC (p.Ala146=) c.212+280_212+281delinsGC c.1024_1025delinsGC (p.Ala342=) | |
| 16 | g.31462476C>A | CA395732990 | ARMC5 | c.929C>A (p.Ala310Asp) c.1214C>A (p.Ala405Asp) c.437C>A (p.Ala146Asp) c.212+281C>A c.1025C>A (p.Ala342Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462476C= | CA2217060654 | ARMC5 | c.929C= (p.Ala310=) c.1214C= (p.Ala405=) c.437C= (p.Ala146=) c.212+281C= c.1025C= (p.Ala342=) | |
| 16 | g.31462476C>G | CA395732993 | ARMC5 | c.929C>G (p.Ala310Gly) c.1214C>G (p.Ala405Gly) c.437C>G (p.Ala146Gly) c.212+281C>G c.1025C>G (p.Ala342Gly) | |
| 16 | g.31462476C>T | CA395732996 | ARMC5 | c.929C>T (p.Ala310Val) c.1214C>T (p.Ala405Val) c.437C>T (p.Ala146Val) c.212+281C>T c.1025C>T (p.Ala342Val) | dbSNP |
| 16 | g.31462477C>A | CA494933724 | ARMC5 | c.930C>A (p.Ala310=) c.1215C>A (p.Ala405=) c.438C>A (p.Ala146=) c.212+282C>A c.1026C>A (p.Ala342=) | |
| 16 | g.31462477C>G | CA494933725 | ARMC5 | c.930C>G (p.Ala310=) c.1215C>G (p.Ala405=) c.438C>G (p.Ala146=) c.212+282C>G c.1026C>G (p.Ala342=) | |
| 16 | g.31462477C>T | CA494933726 | ARMC5 | c.930C>T (p.Ala310=) c.1215C>T (p.Ala405=) c.438C>T (p.Ala146=) c.212+282C>T c.1026C>T (p.Ala342=) | gnomAD v4 |
| 16 | g.31462478C>A | CA395733008 | ARMC5 | c.931C>A (p.Gln311Lys) c.1216C>A (p.Gln406Lys) c.439C>A (p.Gln147Lys) c.212+283C>A c.1027C>A (p.Gln343Lys) | |
| 16 | g.31462478C>G | CA395733001 | ARMC5 | c.931C>G (p.Gln311Glu) c.1216C>G (p.Gln406Glu) c.439C>G (p.Gln147Glu) c.212+283C>G c.1027C>G (p.Gln343Glu) | |
| 16 | g.31462478C>T | CA395733004 | ARMC5 | c.931C>T (p.Gln311Ter) c.1216C>T (p.Gln406Ter) c.439C>T (p.Gln147Ter) c.212+283C>T c.1027C>T (p.Gln343Ter) | |
| 16 | g.31462479A>C | CA395733011 | ARMC5 | c.932A>C (p.Gln311Pro) c.1217A>C (p.Gln406Pro) c.440A>C (p.Gln147Pro) c.212+284A>C c.1028A>C (p.Gln343Pro) | |
| 16 | g.31462479A>G | CA395733014 | ARMC5 | c.932A>G (p.Gln311Arg) c.1217A>G (p.Gln406Arg) c.440A>G (p.Gln147Arg) c.212+284A>G c.1028A>G (p.Gln343Arg) | |
| 16 | g.31462479A>T | CA395733017 | ARMC5 | c.932A>T (p.Gln311Leu) c.1217A>T (p.Gln406Leu) c.440A>T (p.Gln147Leu) c.212+284A>T c.1028A>T (p.Gln343Leu) | |
| 16 | g.31462480G>A | CA494933732 | ARMC5 | c.933G>A (p.Gln311=) c.1218G>A (p.Gln406=) c.441G>A (p.Gln147=) c.212+285G>A c.1029G>A (p.Gln343=) | gnomAD v4 |
| 16 | g.31462480G>C | CA395733019 | ARMC5 | c.933G>C (p.Gln311His) c.1218G>C (p.Gln406His) c.441G>C (p.Gln147His) c.212+285G>C c.1029G>C (p.Gln343His) | |
| 16 | g.31462480G>T | CA395733022 | ARMC5 | c.933G>T (p.Gln311His) c.1218G>T (p.Gln406His) c.441G>T (p.Gln147His) c.212+285G>T c.1029G>T (p.Gln343His) | |
| 16 | g.31462481G>A | CA395733028 | ARMC5 | c.934G>A (p.Gly312Ser) c.1219G>A (p.Gly407Ser) c.442G>A (p.Gly148Ser) c.212+286G>A c.1030G>A (p.Gly344Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462481G>C | CA395733030 | ARMC5 | c.934G>C (p.Gly312Arg) c.1219G>C (p.Gly407Arg) c.442G>C (p.Gly148Arg) c.212+286G>C c.1030G>C (p.Gly344Arg) | |
| 16 | g.31462481G= | CA2217060655 | ARMC5 | c.934G= (p.Gly312=) c.1219G= (p.Gly407=) c.442G= (p.Gly148=) c.212+286G= c.1030G= (p.Gly344=) | |
| 16 | g.31462481G>T | CA395733032 | ARMC5 | c.934G>T (p.Gly312Cys) c.1219G>T (p.Gly407Cys) c.442G>T (p.Gly148Cys) c.212+286G>T c.1030G>T (p.Gly344Cys) | gnomAD v4 |
| 16 | g.31462482G>A | CA395733037 | ARMC5 | c.935G>A (p.Gly312Asp) c.1220G>A (p.Gly407Asp) c.443G>A (p.Gly148Asp) c.212+287G>A c.1031G>A (p.Gly344Asp) | gnomAD v4 |
| 16 | g.31462482G>C | CA395733040 | ARMC5 | c.935G>C (p.Gly312Ala) c.1220G>C (p.Gly407Ala) c.443G>C (p.Gly148Ala) c.212+287G>C c.1031G>C (p.Gly344Ala) | |
| 16 | g.31462482G>T | CA395733043 | ARMC5 | c.935G>T (p.Gly312Val) c.1220G>T (p.Gly407Val) c.443G>T (p.Gly148Val) c.212+287G>T c.1031G>T (p.Gly344Val) | |
| 16 | g.31462483C>A | CA494933740 | ARMC5 | c.936C>A (p.Gly312=) c.1221C>A (p.Gly407=) c.444C>A (p.Gly148=) c.213-289C>A c.1032C>A (p.Gly344=) | gnomAD v4 |
| 16 | g.31462483C>G | CA494933739 | ARMC5 | c.936C>G (p.Gly312=) c.1221C>G (p.Gly407=) c.444C>G (p.Gly148=) c.213-289C>G c.1032C>G (p.Gly344=) | |
| 16 | g.31462483C>T | CA494933737 | ARMC5 | c.936C>T (p.Gly312=) c.1221C>T (p.Gly407=) c.444C>T (p.Gly148=) c.213-289C>T c.1032C>T (p.Gly344=) | |
| 16 | g.31462484C>A | CA395733052 | ARMC5 | c.937C>A (p.Leu313Met) c.1222C>A (p.Leu408Met) c.445C>A (p.Leu149Met) c.213-288C>A c.1033C>A (p.Leu345Met) | |
| 16 | g.31462484C>G | CA395733054 | ARMC5 | c.937C>G (p.Leu313Val) c.1222C>G (p.Leu408Val) c.445C>G (p.Leu149Val) c.213-288C>G c.1033C>G (p.Leu345Val) | gnomAD v4 |
| 16 | g.31462484C>T | CA494933742 | ARMC5 | c.937C>T (p.Leu313=) c.1222C>T (p.Leu408=) c.445C>T (p.Leu149=) c.213-288C>T c.1033C>T (p.Leu345=) | |
| 16 | g.31462485T>A | CA395733061 | ARMC5 | c.938T>A (p.Leu313Gln) c.1223T>A (p.Leu408Gln) c.446T>A (p.Leu149Gln) c.213-287T>A c.1034T>A (p.Leu345Gln) | |
| 16 | g.31462485T>C | CA395733065 | ARMC5 | c.938T>C (p.Leu313Pro) c.1223T>C (p.Leu408Pro) c.446T>C (p.Leu149Pro) c.213-287T>C c.1034T>C (p.Leu345Pro) | |
| 16 | g.31462485T>G | CA395733059 | ARMC5 | c.938T>G (p.Leu313Arg) c.1223T>G (p.Leu408Arg) c.446T>G (p.Leu149Arg) c.213-287T>G c.1034T>G (p.Leu345Arg) | COSMIC COSMIC |
| 16 | g.31462486G>A | CA494933747 | ARMC5 | c.939G>A (p.Leu313=) c.1224G>A (p.Leu408=) c.447G>A (p.Leu149=) c.213-286G>A c.1035G>A (p.Leu345=) | |
| 16 | g.31462486G>C | CA494933748 | ARMC5 | c.939G>C (p.Leu313=) c.1224G>C (p.Leu408=) c.447G>C (p.Leu149=) c.213-286G>C c.1035G>C (p.Leu345=) | |
| 16 | g.31462486G>T | CA494933749 | ARMC5 | c.939G>T (p.Leu313=) c.1224G>T (p.Leu408=) c.447G>T (p.Leu149=) c.213-286G>T c.1035G>T (p.Leu345=) | |
| 16 | g.31462487A>C | CA395733069 | ARMC5 | c.940A>C (p.Ile314Leu) c.1225A>C (p.Ile409Leu) c.448A>C (p.Ile150Leu) c.213-285A>C c.1036A>C (p.Ile346Leu) | gnomAD v4 |
| 16 | g.31462487A>G | CA395733075 | ARMC5 | c.940A>G (p.Ile314Val) c.1225A>G (p.Ile409Val) c.448A>G (p.Ile150Val) c.213-285A>G c.1036A>G (p.Ile346Val) | |
| 16 | g.31462487A>T | CA395733072 | ARMC5 | c.940A>T (p.Ile314Phe) c.1225A>T (p.Ile409Phe) c.448A>T (p.Ile150Phe) c.213-285A>T c.1036A>T (p.Ile346Phe) | |
| 16 | g.31462488T>A | CA395733077 | ARMC5 | c.941T>A (p.Ile314Asn) c.1226T>A (p.Ile409Asn) c.449T>A (p.Ile150Asn) c.213-284T>A c.1037T>A (p.Ile346Asn) | |
| 16 | g.31462488T>C | CA395733080 | ARMC5 | c.941T>C (p.Ile314Thr) c.1226T>C (p.Ile409Thr) c.449T>C (p.Ile150Thr) c.213-284T>C c.1037T>C (p.Ile346Thr) | |
| 16 | g.31462488T>G | CA395733083 | ARMC5 | c.941T>G (p.Ile314Ser) c.1226T>G (p.Ile409Ser) c.449T>G (p.Ile150Ser) c.213-284T>G c.1037T>G (p.Ile346Ser) | |
| 16 | g.31462489T>A | CA494933754 | ARMC5 | c.942T>A (p.Ile314=) c.1227T>A (p.Ile409=) c.450T>A (p.Ile150=) c.213-283T>A c.1038T>A (p.Ile346=) | |
| 16 | g.31462489T>C | CA494933757 | ARMC5 | c.942T>C (p.Ile314=) c.1227T>C (p.Ile409=) c.450T>C (p.Ile150=) c.213-283T>C c.1038T>C (p.Ile346=) | |
| 16 | g.31462489T>G | CA395733085 | ARMC5 | c.942T>G (p.Ile314Met) c.1227T>G (p.Ile409Met) c.450T>G (p.Ile150Met) c.213-283T>G c.1038T>G (p.Ile346Met) | |
| 16 | g.31462490C>A | CA494933758 | ARMC5 | c.943C>A (p.Arg315=) c.1228C>A (p.Arg410=) c.451C>A (p.Arg151=) c.213-282C>A c.1039C>A (p.Arg347=) | gnomAD v4 COSMIC COSMIC |
| 16 | g.31462490C= | CA2217060656 | ARMC5 | c.943C= (p.Arg315=) c.1228C= (p.Arg410=) c.451C= (p.Arg151=) c.213-282C= c.1039C= (p.Arg347=) | |
| 16 | g.31462490C>G | CA395733090 | ARMC5 | c.943C>G (p.Arg315Gly) c.1228C>G (p.Arg410Gly) c.451C>G (p.Arg151Gly) c.213-282C>G c.1039C>G (p.Arg347Gly) | |
| 16 | g.31462490C>T | CA395733092 | ARMC5 | c.943C>T (p.Arg315Trp) c.1228C>T (p.Arg410Trp) c.451C>T (p.Arg151Trp) c.213-282C>T c.1039C>T (p.Arg347Trp) | dbSNP gnomAD v4 COSMIC COSMIC |
| 16 | g.31462491G>A | CA395733096 | ARMC5 | c.944G>A (p.Arg315Gln) c.1229G>A (p.Arg410Gln) c.452G>A (p.Arg151Gln) c.213-281G>A c.1040G>A (p.Arg347Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 16 | g.31462491G>C | CA395733098 | ARMC5 | c.944G>C (p.Arg315Pro) c.1229G>C (p.Arg410Pro) c.452G>C (p.Arg151Pro) c.213-281G>C c.1040G>C (p.Arg347Pro) | |
| 16 | g.31462491G= | CA2217060657 | ARMC5 | c.944G= (p.Arg315=) c.1229G= (p.Arg410=) c.452G= (p.Arg151=) c.213-281G= c.1040G= (p.Arg347=) | |
| 16 | g.31462491G>T | CA395733103 | ARMC5 | c.944G>T (p.Arg315Leu) c.1229G>T (p.Arg410Leu) c.452G>T (p.Arg151Leu) c.213-281G>T c.1040G>T (p.Arg347Leu) | |
| 16 | g.31462492G>A | CA494933762 | ARMC5 | c.945G>A (p.Arg315=) c.1230G>A (p.Arg410=) c.453G>A (p.Arg151=) c.213-280G>A c.1041G>A (p.Arg347=) | gnomAD v4 |
| 16 | g.31462492G>C | CA494933763 | ARMC5 | c.945G>C (p.Arg315=) c.1230G>C (p.Arg410=) c.453G>C (p.Arg151=) c.213-280G>C c.1041G>C (p.Arg347=) | |
| 16 | g.31462492G>T | CA494933764 | ARMC5 | c.945G>T (p.Arg315=) c.1230G>T (p.Arg410=) c.453G>T (p.Arg151=) c.213-280G>T c.1041G>T (p.Arg347=) | |
| 16 | g.31462494_31462497del | CA2632876631 | ARMC5 | c.947_950del (p.Pro316HisfsTer12) c.1232_1235del (p.Pro411HisfsTer12) c.455_458del (p.Pro152HisfsTer12) c.213-278_213-275del c.1043_1046del (p.Pro348HisfsTer12) | gnomAD v4 |
| 16 | g.31462493C>A | CA395733107 | ARMC5 | c.946C>A (p.Pro316Thr) c.1231C>A (p.Pro411Thr) c.454C>A (p.Pro152Thr) c.213-279C>A c.1042C>A (p.Pro348Thr) | |
| 16 | g.31462493C>G | CA395733110 | ARMC5 | c.946C>G (p.Pro316Ala) c.1231C>G (p.Pro411Ala) c.454C>G (p.Pro152Ala) c.213-279C>G c.1042C>G (p.Pro348Ala) | |
| 16 | g.31462493C>T | CA395733112 | ARMC5 | c.946C>T (p.Pro316Ser) c.1231C>T (p.Pro411Ser) c.454C>T (p.Pro152Ser) c.213-279C>T c.1042C>T (p.Pro348Ser) | |
| 16 | g.31462494C>A | CA395733119 | ARMC5 | c.947C>A (p.Pro316His) c.1232C>A (p.Pro411His) c.455C>A (p.Pro152His) c.213-278C>A c.1043C>A (p.Pro348His) | |
| 16 | g.31462494C>G | CA395733115 | ARMC5 | c.947C>G (p.Pro316Arg) c.1232C>G (p.Pro411Arg) c.455C>G (p.Pro152Arg) c.213-278C>G c.1043C>G (p.Pro348Arg) | |
| 16 | g.31462494C>T | CA395733116 | ARMC5 | c.947C>T (p.Pro316Leu) c.1232C>T (p.Pro411Leu) c.455C>T (p.Pro152Leu) c.213-278C>T c.1043C>T (p.Pro348Leu) | |
| 16 | g.31462495T>A | CA494933774 | ARMC5 | c.948T>A (p.Pro316=) c.1233T>A (p.Pro411=) c.456T>A (p.Pro152=) c.213-277T>A c.1044T>A (p.Pro348=) | |
| 16 | g.31462495T>C | CA494933779 | ARMC5 | c.948T>C (p.Pro316=) c.1233T>C (p.Pro411=) c.456T>C (p.Pro152=) c.213-277T>C c.1044T>C (p.Pro348=) | |
| 16 | g.31462495T>G | CA494933780 | ARMC5 | c.948T>G (p.Pro316=) c.1233T>G (p.Pro411=) c.456T>G (p.Pro152=) c.213-277T>G c.1044T>G (p.Pro348=) | |
| 16 | g.31462496G>A | CA395733122 | ARMC5 | c.949G>A (p.Ala317Thr) c.1234G>A (p.Ala412Thr) c.457G>A (p.Ala153Thr) c.213-276G>A c.1045G>A (p.Ala349Thr) | |
| 16 | g.31462496G>C | CA395733124 | ARMC5 | c.949G>C (p.Ala317Pro) c.1234G>C (p.Ala412Pro) c.457G>C (p.Ala153Pro) c.213-276G>C c.1045G>C (p.Ala349Pro) | |
| 16 | g.31462496G>T | CA395733127 | ARMC5 | c.949G>T (p.Ala317Ser) c.1234G>T (p.Ala412Ser) c.457G>T (p.Ala153Ser) c.213-276G>T c.1045G>T (p.Ala349Ser) | gnomAD v4 |
| 16 | g.31462497C>A | CA395733130 | ARMC5 | c.950C>A (p.Ala317Glu) c.1235C>A (p.Ala412Glu) c.458C>A (p.Ala153Glu) c.213-275C>A c.1046C>A (p.Ala349Glu) | |
| 16 | g.31462497C>G | CA395733132 | ARMC5 | c.950C>G (p.Ala317Gly) c.1235C>G (p.Ala412Gly) c.458C>G (p.Ala153Gly) c.213-275C>G c.1046C>G (p.Ala349Gly) | gnomAD v4 |
| 16 | g.31462497C>T | CA395733133 | ARMC5 | c.950C>T (p.Ala317Val) c.1235C>T (p.Ala412Val) c.458C>T (p.Ala153Val) c.213-275C>T c.1046C>T (p.Ala349Val) | gnomAD v4 |
| 16 | g.31462498A>C | CA494933791 | ARMC5 | c.951A>C (p.Ala317=) c.1236A>C (p.Ala412=) c.459A>C (p.Ala153=) c.213-274A>C c.1047A>C (p.Ala349=) | gnomAD v4 |
| 16 | g.31462498A>G | CA494933792 | ARMC5 | c.951A>G (p.Ala317=) c.1236A>G (p.Ala412=) c.459A>G (p.Ala153=) c.213-274A>G c.1047A>G (p.Ala349=) | |
| 16 | g.31462498A>T | CA494933789 | ARMC5 | c.951A>T (p.Ala317=) c.1236A>T (p.Ala412=) c.459A>T (p.Ala153=) c.213-274A>T c.1047A>T (p.Ala349=) | |
| 16 | g.31462499C>A | CA395733135 | ARMC5 | c.952C>A (p.Leu318Met) c.1237C>A (p.Leu413Met) c.460C>A (p.Leu154Met) c.213-273C>A c.1048C>A (p.Leu350Met) | |
| 16 | g.31462499C= | CA2217060658 | ARMC5 | c.952C= (p.Leu318=) c.1237C= (p.Leu413=) c.460C= (p.Leu154=) c.213-273C= c.1048C= (p.Leu350=) | |
| 16 | g.31462499C>G | CA395733137 | ARMC5 | c.952C>G (p.Leu318Val) c.1237C>G (p.Leu413Val) c.460C>G (p.Leu154Val) c.213-273C>G c.1048C>G (p.Leu350Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462499C>T | CA494933795 | ARMC5 | c.952C>T (p.Leu318=) c.1237C>T (p.Leu413=) c.460C>T (p.Leu154=) c.213-273C>T c.1048C>T (p.Leu350=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462500T>A | CA395733140 | ARMC5 | c.953T>A (p.Leu318Gln) c.1238T>A (p.Leu413Gln) c.461T>A (p.Leu154Gln) c.213-272T>A c.1049T>A (p.Leu350Gln) | |
| 16 | g.31462500T>C | CA395733141 | ARMC5 | c.953T>C (p.Leu318Pro) c.1238T>C (p.Leu413Pro) c.461T>C (p.Leu154Pro) c.213-272T>C c.1049T>C (p.Leu350Pro) | |
| 16 | g.31462500T>G | CA395733142 | ARMC5 | c.953T>G (p.Leu318Arg) c.1238T>G (p.Leu413Arg) c.461T>G (p.Leu154Arg) c.213-272T>G c.1049T>G (p.Leu350Arg) | |
| 16 | g.31462501G>A | CA494933803 | ARMC5 | c.954G>A (p.Leu318=) c.1239G>A (p.Leu413=) c.462G>A (p.Leu154=) c.213-271G>A c.1050G>A (p.Leu350=) | dbSNP gnomAD v2 |
| 16 | g.31462501G>C | CA494933805 | ARMC5 | c.954G>C (p.Leu318=) c.1239G>C (p.Leu413=) c.462G>C (p.Leu154=) c.213-271G>C c.1050G>C (p.Leu350=) | |
| 16 | g.31462501G= | CA2217060659 | ARMC5 | c.954G= (p.Leu318=) c.1239G= (p.Leu413=) c.462G= (p.Leu154=) c.213-271G= c.1050G= (p.Leu350=) | |
| 16 | g.31462501G>T | CA494933807 | ARMC5 | c.954G>T (p.Leu318=) c.1239G>T (p.Leu413=) c.462G>T (p.Leu154=) c.213-271G>T c.1050G>T (p.Leu350=) | |
| 16 | g.31462502G>A | CA395733147 | ARMC5 | c.955G>A (p.Gly319Ser) c.1240G>A (p.Gly414Ser) c.463G>A (p.Gly155Ser) c.213-270G>A c.1051G>A (p.Gly351Ser) | |
| 16 | g.31462502G>C | CA395733145 | ARMC5 | c.955G>C (p.Gly319Arg) c.1240G>C (p.Gly414Arg) c.463G>C (p.Gly155Arg) c.213-270G>C c.1051G>C (p.Gly351Arg) | dbSNP |
| 16 | g.31462502G= | CA2217060660 | ARMC5 | c.955G= (p.Gly319=) c.1240G= (p.Gly414=) c.463G= (p.Gly155=) c.213-270G= c.1051G= (p.Gly351=) | |
| 16 | g.31462502G>T | CA395733143 | ARMC5 | c.955G>T (p.Gly319Cys) c.1240G>T (p.Gly414Cys) c.463G>T (p.Gly155Cys) c.213-270G>T c.1051G>T (p.Gly351Cys) | |
| 16 | g.31462503G>A | CA395733150 | ARMC5 | c.956G>A (p.Gly319Asp) c.1241G>A (p.Gly414Asp) c.464G>A (p.Gly155Asp) c.213-269G>A c.1052G>A (p.Gly351Asp) | COSMIC COSMIC |
| 16 | g.31462503G>C | CA395733151 | ARMC5 | c.956G>C (p.Gly319Ala) c.1241G>C (p.Gly414Ala) c.464G>C (p.Gly155Ala) c.213-269G>C c.1052G>C (p.Gly351Ala) | |
| 16 | g.31462503G>T | CA395733152 | ARMC5 | c.956G>T (p.Gly319Val) c.1241G>T (p.Gly414Val) c.464G>T (p.Gly155Val) c.213-269G>T c.1052G>T (p.Gly351Val) | |
| 16 | g.31462504C>A | CA494933812 | ARMC5 | c.957C>A (p.Gly319=) c.1242C>A (p.Gly414=) c.465C>A (p.Gly155=) c.213-268C>A c.1053C>A (p.Gly351=) | |
| 16 | g.31462504C>G | CA494933815 | ARMC5 | c.957C>G (p.Gly319=) c.1242C>G (p.Gly414=) c.465C>G (p.Gly155=) c.213-268C>G c.1053C>G (p.Gly351=) | |
| 16 | g.31462504C>T | CA494933817 | ARMC5 | c.957C>T (p.Gly319=) c.1242C>T (p.Gly414=) c.465C>T (p.Gly155=) c.213-268C>T c.1053C>T (p.Gly351=) | gnomAD v4 |
| 16 | g.31462505A>C | CA395733153 | ARMC5 | c.958A>C (p.Asn320His) c.1243A>C (p.Asn415His) c.466A>C (p.Asn156His) c.213-267A>C c.1054A>C (p.Asn352His) | |
| 16 | g.31462505A>G | CA395733155 | ARMC5 | c.958A>G (p.Asn320Asp) c.1243A>G (p.Asn415Asp) c.466A>G (p.Asn156Asp) c.213-267A>G c.1054A>G (p.Asn352Asp) | |
| 16 | g.31462505A>T | CA395733157 | ARMC5 | c.958A>T (p.Asn320Tyr) c.1243A>T (p.Asn415Tyr) c.466A>T (p.Asn156Tyr) c.213-267A>T c.1054A>T (p.Asn352Tyr) | |
| 16 | g.31462506A= | CA2217060661 | ARMC5 | c.959A= (p.Asn320=) c.1244A= (p.Asn415=) c.467A= (p.Asn156=) c.213-266A= c.1055A= (p.Asn352=) | |
| 16 | g.31462506A>C | CA395733159 | ARMC5 | c.959A>C (p.Asn320Thr) c.1244A>C (p.Asn415Thr) c.467A>C (p.Asn156Thr) c.213-266A>C c.1055A>C (p.Asn352Thr) | |
| 16 | g.31462506A>G | CA8029580 | ARMC5 | c.959A>G (p.Asn320Ser) c.1244A>G (p.Asn415Ser) c.467A>G (p.Asn156Ser) c.213-266A>G c.1055A>G (p.Asn352Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462506A>T | CA8029581 | ARMC5 | c.959A>T (p.Asn320Ile) c.1244A>T (p.Asn415Ile) c.467A>T (p.Asn156Ile) c.213-266A>T c.1055A>T (p.Asn352Ile) | dbSNP ExAC gnomAD v2 |
| 16 | g.31462507T>A | CA395733163 | ARMC5 | c.960T>A (p.Asn320Lys) c.1245T>A (p.Asn415Lys) c.468T>A (p.Asn156Lys) c.213-265T>A c.1056T>A (p.Asn352Lys) | |
| 16 | g.31462507T>C | CA8029582 | ARMC5 | c.960T>C (p.Asn320=) c.1245T>C (p.Asn415=) c.468T>C (p.Asn156=) c.213-265T>C c.1056T>C (p.Asn352=) | dbSNP ExAC gnomAD v4 |
| 16 | g.31462507T>G | CA395733165 | ARMC5 | c.960T>G (p.Asn320Lys) c.1245T>G (p.Asn415Lys) c.468T>G (p.Asn156Lys) c.213-265T>G c.1056T>G (p.Asn352Lys) | |
| 16 | g.31462507T= | CA2217060662 | ARMC5 | c.960T= (p.Asn320=) c.1245T= (p.Asn415=) c.468T= (p.Asn156=) c.213-265T= c.1056T= (p.Asn352=) | |
| 16 | g.31462508G>A | CA395733171 | ARMC5 | c.961G>A (p.Ala321Thr) c.1246G>A (p.Ala416Thr) c.469G>A (p.Ala157Thr) c.213-264G>A c.1057G>A (p.Ala353Thr) | |
| 16 | g.31462508G>C | CA395733170 | ARMC5 | c.961G>C (p.Ala321Pro) c.1246G>C (p.Ala416Pro) c.469G>C (p.Ala157Pro) c.213-264G>C c.1057G>C (p.Ala353Pro) | |
| 16 | g.31462508G>T | CA395733168 | ARMC5 | c.961G>T (p.Ala321Ser) c.1246G>T (p.Ala416Ser) c.469G>T (p.Ala157Ser) c.213-264G>T c.1057G>T (p.Ala353Ser) | gnomAD v4 |
| 16 | g.31462509C>A | CA395733174 | ARMC5 | c.962C>A (p.Ala321Asp) c.1247C>A (p.Ala416Asp) c.470C>A (p.Ala157Asp) c.213-263C>A c.1058C>A (p.Ala353Asp) | |
| 16 | g.31462509C= | CA2217060663 | ARMC5 | c.962C= (p.Ala321=) c.1247C= (p.Ala416=) c.470C= (p.Ala157=) c.213-263C= c.1058C= (p.Ala353=) | |
| 16 | g.31462509C>G | CA395733176 | ARMC5 | c.962C>G (p.Ala321Gly) c.1247C>G (p.Ala416Gly) c.470C>G (p.Ala157Gly) c.213-263C>G c.1058C>G (p.Ala353Gly) | gnomAD v4 |
| 16 | g.31462509C>T | CA280639860 | ARMC5 | c.962C>T (p.Ala321Val) c.1247C>T (p.Ala416Val) c.470C>T (p.Ala157Val) c.213-263C>T c.1058C>T (p.Ala353Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462510T>A | CA494933836 | ARMC5 | c.963T>A (p.Ala321=) c.1248T>A (p.Ala416=) c.471T>A (p.Ala157=) c.213-262T>A c.1059T>A (p.Ala353=) | |
| 16 | g.31462510T>C | CA494933838 | ARMC5 | c.963T>C (p.Ala321=) c.1248T>C (p.Ala416=) c.471T>C (p.Ala157=) c.213-262T>C c.1059T>C (p.Ala353=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462510T>G | CA494933837 | ARMC5 | c.963T>G (p.Ala321=) c.1248T>G (p.Ala416=) c.471T>G (p.Ala157=) c.213-262T>G c.1059T>G (p.Ala353=) | gnomAD v4 |
| 16 | g.31462510T= | CA2217060664 | ARMC5 | c.963T= (p.Ala321=) c.1248T= (p.Ala416=) c.471T= (p.Ala157=) c.213-262T= c.1059T= (p.Ala353=) | |
| 16 | g.31462511G>A | CA395733182 | ARMC5 | c.964G>A (p.Gly322Ser) c.1249G>A (p.Gly417Ser) c.472G>A (p.Gly158Ser) c.213-261G>A c.1060G>A (p.Gly354Ser) | gnomAD v4 |
| 16 | g.31462511G>C | CA395733183 | ARMC5 | c.964G>C (p.Gly322Arg) c.1249G>C (p.Gly417Arg) c.472G>C (p.Gly158Arg) c.213-261G>C c.1060G>C (p.Gly354Arg) | |
| 16 | g.31462511G>T | CA395733185 | ARMC5 | c.964G>T (p.Gly322Cys) c.1249G>T (p.Gly417Cys) c.472G>T (p.Gly158Cys) c.213-261G>T c.1060G>T (p.Gly354Cys) | |
| 16 | g.31462512G>A | CA395733187 | ARMC5 | c.965G>A (p.Gly322Asp) c.1250G>A (p.Gly417Asp) c.473G>A (p.Gly158Asp) c.213-260G>A c.1061G>A (p.Gly354Asp) | |
| 16 | g.31462512G>C | CA395733190 | ARMC5 | c.965G>C (p.Gly322Ala) c.1250G>C (p.Gly417Ala) c.473G>C (p.Gly158Ala) c.213-260G>C c.1061G>C (p.Gly354Ala) | |
| 16 | g.31462512G>T | CA395733191 | ARMC5 | c.965G>T (p.Gly322Val) c.1250G>T (p.Gly417Val) c.473G>T (p.Gly158Val) c.213-260G>T c.1061G>T (p.Gly354Val) | |
| 16 | g.31462513T>A | CA494933846 | ARMC5 | c.966T>A (p.Gly322=) c.1251T>A (p.Gly417=) c.474T>A (p.Gly158=) c.213-259T>A c.1062T>A (p.Gly354=) | |
| 16 | g.31462513T>C | CA494933847 | ARMC5 | c.966T>C (p.Gly322=) c.1251T>C (p.Gly417=) c.474T>C (p.Gly158=) c.213-259T>C c.1062T>C (p.Gly354=) | |
| 16 | g.31462513T>G | CA494933848 | ARMC5 | c.966T>G (p.Gly322=) c.1251T>G (p.Gly417=) c.474T>G (p.Gly158=) c.213-259T>G c.1062T>G (p.Gly354=) | |
| 16 | g.31462514G>A | CA395733196 | ARMC5 | c.967G>A (p.Gly323Ser) c.1252G>A (p.Gly418Ser) c.475G>A (p.Gly159Ser) c.213-258G>A c.1063G>A (p.Gly355Ser) | |
| 16 | g.31462514G>C | CA395733198 | ARMC5 | c.967G>C (p.Gly323Arg) c.1252G>C (p.Gly418Arg) c.475G>C (p.Gly159Arg) c.213-258G>C c.1063G>C (p.Gly355Arg) | |
| 16 | g.31462514G>T | CA395733200 | ARMC5 | c.967G>T (p.Gly323Cys) c.1252G>T (p.Gly418Cys) c.475G>T (p.Gly159Cys) c.213-258G>T c.1063G>T (p.Gly355Cys) | gnomAD v4 |
| 16 | g.31462515G>A | CA395733201 | ARMC5 | c.968G>A (p.Gly323Asp) c.1253G>A (p.Gly418Asp) c.476G>A (p.Gly159Asp) c.213-257G>A c.1064G>A (p.Gly355Asp) | ClinVar dbSNP |
| 16 | g.31462515G>C | CA8029583 | ARMC5 | c.968G>C (p.Gly323Ala) c.1253G>C (p.Gly418Ala) c.476G>C (p.Gly159Ala) c.213-257G>C c.1064G>C (p.Gly355Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462515G= | CA2217060665 | ARMC5 | c.968G= (p.Gly323=) c.1253G= (p.Gly418=) c.476G= (p.Gly159=) c.213-257G= c.1064G= (p.Gly355=) | |
| 16 | g.31462515G>T | CA395733202 | ARMC5 | c.968G>T (p.Gly323Val) c.1253G>T (p.Gly418Val) c.476G>T (p.Gly159Val) c.213-257G>T c.1064G>T (p.Gly355Val) | |
| 16 | g.31462516C>A | CA494933858 | ARMC5 | c.969C>A (p.Gly323=) c.1254C>A (p.Gly418=) c.477C>A (p.Gly159=) c.213-256C>A c.1065C>A (p.Gly355=) | |
| 16 | g.31462516C= | CA2217060666 | ARMC5 | c.969C= (p.Gly323=) c.1254C= (p.Gly418=) c.477C= (p.Gly159=) c.213-256C= c.1065C= (p.Gly355=) | |
| 16 | g.31462516C>G | CA494933864 | ARMC5 | c.969C>G (p.Gly323=) c.1254C>G (p.Gly418=) c.477C>G (p.Gly159=) c.213-256C>G c.1065C>G (p.Gly355=) | |
| 16 | g.31462516C>T | CA8029584 | ARMC5 | c.969C>T (p.Gly323=) c.1254C>T (p.Gly418=) c.477C>T (p.Gly159=) c.213-256C>T c.1065C>T (p.Gly355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462517G>A | CA8029585 | ARMC5 | c.970G>A (p.Val324Met) c.1255G>A (p.Val419Met) c.478G>A (p.Val160Met) c.213-255G>A c.1066G>A (p.Val356Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462517G>C | CA395733203 | ARMC5 | c.970G>C (p.Val324Leu) c.1255G>C (p.Val419Leu) c.478G>C (p.Val160Leu) c.213-255G>C c.1066G>C (p.Val356Leu) | |
| 16 | g.31462517G= | CA2217060667 | ARMC5 | c.970G= (p.Val324=) c.1255G= (p.Val419=) c.478G= (p.Val160=) c.213-255G= c.1066G= (p.Val356=) | |
| 16 | g.31462517G>T | CA395733204 | ARMC5 | c.970G>T (p.Val324Leu) c.1255G>T (p.Val419Leu) c.478G>T (p.Val160Leu) c.213-255G>T c.1066G>T (p.Val356Leu) | |
| 16 | g.31462518T>A | CA395733205 | ARMC5 | c.971T>A (p.Val324Glu) c.1256T>A (p.Val419Glu) c.479T>A (p.Val160Glu) c.213-254T>A c.1067T>A (p.Val356Glu) | |
| 16 | g.31462518T>C | CA395733207 | ARMC5 | c.971T>C (p.Val324Ala) c.1256T>C (p.Val419Ala) c.479T>C (p.Val160Ala) c.213-254T>C c.1067T>C (p.Val356Ala) | |
| 16 | g.31462518T>G | CA395733206 | ARMC5 | c.971T>G (p.Val324Gly) c.1256T>G (p.Val419Gly) c.479T>G (p.Val160Gly) c.213-254T>G c.1067T>G (p.Val356Gly) | |
| 16 | g.31462519G>A | CA494933875 | ARMC5 | c.972G>A (p.Val324=) c.1257G>A (p.Val419=) c.480G>A (p.Val160=) c.213-253G>A c.1068G>A (p.Val356=) | |
| 16 | g.31462519G>C | CA494933878 | ARMC5 | c.972G>C (p.Val324=) c.1257G>C (p.Val419=) c.480G>C (p.Val160=) c.213-253G>C c.1068G>C (p.Val356=) | |
| 16 | g.31462519G>T | CA494933873 | ARMC5 | c.972G>T (p.Val324=) c.1257G>T (p.Val419=) c.480G>T (p.Val160=) c.213-253G>T c.1068G>T (p.Val356=) | gnomAD v4 |
| 16 | g.31462520G>A | CA395733208 | ARMC5 | c.973G>A (p.Glu325Lys) c.1258G>A (p.Glu420Lys) c.481G>A (p.Glu161Lys) c.213-252G>A c.1069G>A (p.Glu357Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462520G>C | CA395733209 | ARMC5 | c.973G>C (p.Glu325Gln) c.1258G>C (p.Glu420Gln) c.481G>C (p.Glu161Gln) c.213-252G>C c.1069G>C (p.Glu357Gln) | |
| 16 | g.31462520G= | CA2217060668 | ARMC5 | c.973G= (p.Glu325=) c.1258G= (p.Glu420=) c.481G= (p.Glu161=) c.213-252G= c.1069G= (p.Glu357=) | |
| 16 | g.31462520G>T | CA395733210 | ARMC5 | c.973G>T (p.Glu325Ter) c.1258G>T (p.Glu420Ter) c.481G>T (p.Glu161Ter) c.213-252G>T c.1069G>T (p.Glu357Ter) | gnomAD v4 |
| 16 | g.31462521A= | CA2217060669 | ARMC5 | c.974A= (p.Glu325=) c.1259A= (p.Glu420=) c.482A= (p.Glu161=) c.213-251A= c.1070A= (p.Glu357=) | |
| 16 | g.31462521A>C | CA395733211 | ARMC5 | c.974A>C (p.Glu325Ala) c.1259A>C (p.Glu420Ala) c.482A>C (p.Glu161Ala) c.213-251A>C c.1070A>C (p.Glu357Ala) | |
| 16 | g.31462521A>G | CA395733212 | ARMC5 | c.974A>G (p.Glu325Gly) c.1259A>G (p.Glu420Gly) c.482A>G (p.Glu161Gly) c.213-251A>G c.1070A>G (p.Glu357Gly) | |
| 16 | g.31462521A>T | CA8029586 | ARMC5 | c.974A>T (p.Glu325Val) c.1259A>T (p.Glu420Val) c.482A>T (p.Glu161Val) c.213-251A>T c.1070A>T (p.Glu357Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462522G>A | CA494933886 | ARMC5 | c.975G>A (p.Glu325=) c.1260G>A (p.Glu420=) c.483G>A (p.Glu161=) c.213-250G>A c.1071G>A (p.Glu357=) | |
| 16 | g.31462522G>C | CA395733213 | ARMC5 | c.975G>C (p.Glu325Asp) c.1260G>C (p.Glu420Asp) c.483G>C (p.Glu161Asp) c.213-250G>C c.1071G>C (p.Glu357Asp) | |
| 16 | g.31462522G>T | CA395733214 | ARMC5 | c.975G>T (p.Glu325Asp) c.1260G>T (p.Glu420Asp) c.483G>T (p.Glu161Asp) c.213-250G>T c.1071G>T (p.Glu357Asp) | COSMIC |
| 16 | g.31462523G>A | CA395733215 | ARMC5 | c.976G>A (p.Val326Met) c.1261G>A (p.Val421Met) c.484G>A (p.Val162Met) c.213-249G>A c.1072G>A (p.Val358Met) | |
| 16 | g.31462523G>C | CA395733216 | ARMC5 | c.976G>C (p.Val326Leu) c.1261G>C (p.Val421Leu) c.484G>C (p.Val162Leu) c.213-249G>C c.1072G>C (p.Val358Leu) | |
| 16 | g.31462523G= | CA2217060670 | ARMC5 | c.976G= (p.Val326=) c.1261G= (p.Val421=) c.484G= (p.Val162=) c.213-249G= c.1072G= (p.Val358=) | |
| 16 | g.31462523G>T | CA395733217 | ARMC5 | c.976G>T (p.Val326Leu) c.1261G>T (p.Val421Leu) c.484G>T (p.Val162Leu) c.213-249G>T c.1072G>T (p.Val358Leu) | dbSNP gnomAD v4 |
| 16 | g.31462524T>A | CA395733220 | ARMC5 | c.977T>A (p.Val326Glu) c.1262T>A (p.Val421Glu) c.485T>A (p.Val162Glu) c.213-248T>A c.1073T>A (p.Val358Glu) | |
| 16 | g.31462524T>C | CA395733219 | ARMC5 | c.977T>C (p.Val326Ala) c.1262T>C (p.Val421Ala) c.485T>C (p.Val162Ala) c.213-248T>C c.1073T>C (p.Val358Ala) | |
| 16 | g.31462524T>G | CA395733218 | ARMC5 | c.977T>G (p.Val326Gly) c.1262T>G (p.Val421Gly) c.485T>G (p.Val162Gly) c.213-248T>G c.1073T>G (p.Val358Gly) | dbSNP |
| 16 | g.31462524T= | CA2217060671 | ARMC5 | c.977T= (p.Val326=) c.1262T= (p.Val421=) c.485T= (p.Val162=) c.213-248T= c.1073T= (p.Val358=) | |
| 16 | g.31462525G>A | CA280639867 | ARMC5 | c.978G>A (p.Val326=) c.1263G>A (p.Val421=) c.486G>A (p.Val162=) c.213-247G>A c.1074G>A (p.Val358=) | dbSNP |
| 16 | g.31462525G>C | CA494933904 | ARMC5 | c.978G>C (p.Val326=) c.1263G>C (p.Val421=) c.486G>C (p.Val162=) c.213-247G>C c.1074G>C (p.Val358=) | dbSNP |
| 16 | g.31462525G= | CA2217060672 | ARMC5 | c.978G= (p.Val326=) c.1263G= (p.Val421=) c.486G= (p.Val162=) c.213-247G= c.1074G= (p.Val358=) | |
| 16 | g.31462525G>T | CA494933907 | ARMC5 | c.978G>T (p.Val326=) c.1263G>T (p.Val421=) c.486G>T (p.Val162=) c.213-247G>T c.1074G>T (p.Val358=) | |
| 16 | g.31462526C>A | CA395733221 | ARMC5 | c.979C>A (p.Leu327Met) c.1264C>A (p.Leu422Met) c.487C>A (p.Leu163Met) c.213-246C>A c.1075C>A (p.Leu359Met) | |
| 16 | g.31462526C>G | CA395733222 | ARMC5 | c.979C>G (p.Leu327Val) c.1264C>G (p.Leu422Val) c.487C>G (p.Leu163Val) c.213-246C>G c.1075C>G (p.Leu359Val) | |
| 16 | g.31462526C>T | CA494933910 | ARMC5 | c.979C>T (p.Leu327=) c.1264C>T (p.Leu422=) c.487C>T (p.Leu163=) c.213-246C>T c.1075C>T (p.Leu359=) | |
| 16 | g.31462527T>A | CA395733223 | ARMC5 | c.980T>A (p.Leu327Gln) c.1265T>A (p.Leu422Gln) c.488T>A (p.Leu163Gln) c.213-245T>A c.1076T>A (p.Leu359Gln) | |
| 16 | g.31462527T>C | CA395733224 | ARMC5 | c.980T>C (p.Leu327Pro) c.1265T>C (p.Leu422Pro) c.488T>C (p.Leu163Pro) c.213-245T>C c.1076T>C (p.Leu359Pro) | |
| 16 | g.31462527T>G | CA395733225 | ARMC5 | c.980T>G (p.Leu327Arg) c.1265T>G (p.Leu422Arg) c.488T>G (p.Leu163Arg) c.213-245T>G c.1076T>G (p.Leu359Arg) | |
| 16 | g.31462528G>A | CA494933915 | ARMC5 | c.981G>A (p.Leu327=) c.1266G>A (p.Leu422=) c.489G>A (p.Leu163=) c.213-244G>A c.1077G>A (p.Leu359=) | |
| 16 | g.31462528G>C | CA494933916 | ARMC5 | c.981G>C (p.Leu327=) c.1266G>C (p.Leu422=) c.489G>C (p.Leu163=) c.213-244G>C c.1077G>C (p.Leu359=) | |
| 16 | g.31462528G= | CA2217060673 | ARMC5 | c.981G= (p.Leu327=) c.1266G= (p.Leu422=) c.489G= (p.Leu163=) c.213-244G= c.1077G= (p.Leu359=) | |
| 16 | g.31462528G>T | CA280639870 | ARMC5 | c.981G>T (p.Leu327=) c.1266G>T (p.Leu422=) c.489G>T (p.Leu163=) c.213-244G>T c.1077G>T (p.Leu359=) | dbSNP |
| 16 | g.31462529G>A | CA395733226 | ARMC5 | c.982G>A (p.Val328Ile) c.1267G>A (p.Val423Ile) c.490G>A (p.Val164Ile) c.213-243G>A c.1078G>A (p.Val360Ile) | dbSNP gnomAD v4 |
| 16 | g.31462529G>C | CA395733227 | ARMC5 | c.982G>C (p.Val328Leu) c.1267G>C (p.Val423Leu) c.490G>C (p.Val164Leu) c.213-243G>C c.1078G>C (p.Val360Leu) | |
| 16 | g.31462529G= | CA2217060674 | ARMC5 | c.982G= (p.Val328=) c.1267G= (p.Val423=) c.490G= (p.Val164=) c.213-243G= c.1078G= (p.Val360=) | |
| 16 | g.31462529G>T | CA395733228 | ARMC5 | c.982G>T (p.Val328Leu) c.1267G>T (p.Val423Leu) c.490G>T (p.Val164Leu) c.213-243G>T c.1078G>T (p.Val360Leu) | dbSNP |
| 16 | g.31462530T>A | CA395733229 | ARMC5 | c.983T>A (p.Val328Glu) c.1268T>A (p.Val423Glu) c.491T>A (p.Val164Glu) c.213-242T>A c.1079T>A (p.Val360Glu) | |
| 16 | g.31462530T>C | CA395733230 | ARMC5 | c.983T>C (p.Val328Ala) c.1268T>C (p.Val423Ala) c.491T>C (p.Val164Ala) c.213-242T>C c.1079T>C (p.Val360Ala) | |
| 16 | g.31462530T>G | CA395733231 | ARMC5 | c.983T>G (p.Val328Gly) c.1268T>G (p.Val423Gly) c.491T>G (p.Val164Gly) c.213-242T>G c.1079T>G (p.Val360Gly) | |
| 16 | g.31462531A>C | CA494933923 | ARMC5 | c.984A>C (p.Val328=) c.1269A>C (p.Val423=) c.492A>C (p.Val164=) c.213-241A>C c.1080A>C (p.Val360=) | |
| 16 | g.31462531A>G | CA494933925 | ARMC5 | c.984A>G (p.Val328=) c.1269A>G (p.Val423=) c.492A>G (p.Val164=) c.213-241A>G c.1080A>G (p.Val360=) | gnomAD v4 |
| 16 | g.31462531A>T | CA494933927 | ARMC5 | c.984A>T (p.Val328=) c.1269A>T (p.Val423=) c.492A>T (p.Val164=) c.213-241A>T c.1080A>T (p.Val360=) | |
| 16 | g.31462532G>A | CA395733234 | ARMC5 | c.985G>A (p.Asp329Asn) c.1270G>A (p.Asp424Asn) c.493G>A (p.Asp165Asn) c.213-240G>A c.1081G>A (p.Asp361Asn) | |
| 16 | g.31462532G>C | CA395733233 | ARMC5 | c.985G>C (p.Asp329His) c.1270G>C (p.Asp424His) c.493G>C (p.Asp165His) c.213-240G>C c.1081G>C (p.Asp361His) | |
| 16 | g.31462532G>T | CA395733232 | ARMC5 | c.985G>T (p.Asp329Tyr) c.1270G>T (p.Asp424Tyr) c.493G>T (p.Asp165Tyr) c.213-240G>T c.1081G>T (p.Asp361Tyr) | gnomAD v4 |
| 16 | g.31462533A>C | CA395733235 | ARMC5 | c.986A>C (p.Asp329Ala) c.1271A>C (p.Asp424Ala) c.494A>C (p.Asp165Ala) c.213-239A>C c.1082A>C (p.Asp361Ala) | |
| 16 | g.31462533A>G | CA395733236 | ARMC5 | c.986A>G (p.Asp329Gly) c.1271A>G (p.Asp424Gly) c.494A>G (p.Asp165Gly) c.213-239A>G c.1082A>G (p.Asp361Gly) | |
| 16 | g.31462533A>T | CA395733237 | ARMC5 | c.986A>T (p.Asp329Val) c.1271A>T (p.Asp424Val) c.494A>T (p.Asp165Val) c.213-239A>T c.1082A>T (p.Asp361Val) | |
| 16 | g.31462534T>A | CA395733238 | ARMC5 | c.987T>A (p.Asp329Glu) c.1272T>A (p.Asp424Glu) c.495T>A (p.Asp165Glu) c.213-238T>A c.1083T>A (p.Asp361Glu) | |
| 16 | g.31462534T>C | CA494933936 | ARMC5 | c.987T>C (p.Asp329=) c.1272T>C (p.Asp424=) c.495T>C (p.Asp165=) c.213-238T>C c.1083T>C (p.Asp361=) | |
| 16 | g.31462534T>G | CA395733239 | ARMC5 | c.987T>G (p.Asp329Glu) c.1272T>G (p.Asp424Glu) c.495T>G (p.Asp165Glu) c.213-238T>G c.1083T>G (p.Asp361Glu) | |
| 16 | g.31462535del | CA2632876633 | ARMC5 | c.988del (p.Glu330SerfsTer?) c.1273del (p.Glu425SerfsTer?) c.496del (p.Glu166SerfsTer?) c.213-237del c.1084del (p.Glu362SerfsTer?) | gnomAD v4 |
| 16 | g.31462535G>A | CA395733240 | ARMC5 | c.988G>A (p.Glu330Lys) c.1273G>A (p.Glu425Lys) c.496G>A (p.Glu166Lys) c.213-237G>A c.1084G>A (p.Glu362Lys) | |
| 16 | g.31462535G>C | CA395733241 | ARMC5 | c.988G>C (p.Glu330Gln) c.1273G>C (p.Glu425Gln) c.496G>C (p.Glu166Gln) c.213-237G>C c.1084G>C (p.Glu362Gln) | |
| 16 | g.31462535G>T | CA395733242 | ARMC5 | c.988G>T (p.Glu330Ter) c.1273G>T (p.Glu425Ter) c.496G>T (p.Glu166Ter) c.213-237G>T c.1084G>T (p.Glu362Ter) | |
| 16 | g.31462536A= | CA2217060675 | ARMC5 | c.989A= (p.Glu330=) c.1274A= (p.Glu425=) c.497A= (p.Glu166=) c.213-236A= c.1085A= (p.Glu362=) | |
| 16 | g.31462536A>C | CA395733243 | ARMC5 | c.989A>C (p.Glu330Ala) c.1274A>C (p.Glu425Ala) c.497A>C (p.Glu166Ala) c.213-236A>C c.1085A>C (p.Glu362Ala) | |
| 16 | g.31462536A>G | CA395733244 | ARMC5 | c.989A>G (p.Glu330Gly) c.1274A>G (p.Glu425Gly) c.497A>G (p.Glu166Gly) c.213-236A>G c.1085A>G (p.Glu362Gly) | dbSNP |
| 16 | g.31462536A>T | CA395733245 | ARMC5 | c.989A>T (p.Glu330Val) c.1274A>T (p.Glu425Val) c.497A>T (p.Glu166Val) c.213-236A>T c.1085A>T (p.Glu362Val) | |
| 16 | g.31462537G>A | CA494933941 | ARMC5 | c.990G>A (p.Glu330=) c.1275G>A (p.Glu425=) c.498G>A (p.Glu166=) c.213-235G>A c.1086G>A (p.Glu362=) | |
| 16 | g.31462537G>C | CA395733246 | ARMC5 | c.990G>C (p.Glu330Asp) c.1275G>C (p.Glu425Asp) c.498G>C (p.Glu166Asp) c.213-235G>C c.1086G>C (p.Glu362Asp) | |
| 16 | g.31462537G>T | CA395733247 | ARMC5 | c.990G>T (p.Glu330Asp) c.1275G>T (p.Glu425Asp) c.498G>T (p.Glu166Asp) c.213-235G>T c.1086G>T (p.Glu362Asp) | |
| 16 | g.31462538C>A | CA395733250 | ARMC5 | c.991C>A (p.Leu331Ile) c.1276C>A (p.Leu426Ile) c.499C>A (p.Leu167Ile) c.213-234C>A c.1087C>A (p.Leu363Ile) | |
| 16 | g.31462538C>G | CA395733248 | ARMC5 | c.991C>G (p.Leu331Val) c.1276C>G (p.Leu426Val) c.499C>G (p.Leu167Val) c.213-234C>G c.1087C>G (p.Leu363Val) | |
| 16 | g.31462538C>T | CA395733249 | ARMC5 | c.991C>T (p.Leu331Phe) c.1276C>T (p.Leu426Phe) c.499C>T (p.Leu167Phe) c.213-234C>T c.1087C>T (p.Leu363Phe) | |
| 16 | g.31462539T>A | CA395733251 | ARMC5 | c.992T>A (p.Leu331His) c.1277T>A (p.Leu426His) c.500T>A (p.Leu167His) c.213-233T>A c.1088T>A (p.Leu363His) | |
| 16 | g.31462539T>C | CA395733252 | ARMC5 | c.992T>C (p.Leu331Pro) c.1277T>C (p.Leu426Pro) c.500T>C (p.Leu167Pro) c.213-233T>C c.1088T>C (p.Leu363Pro) | |
| 16 | g.31462539T>G | CA395733253 | ARMC5 | c.992T>G (p.Leu331Arg) c.1277T>G (p.Leu426Arg) c.500T>G (p.Leu167Arg) c.213-233T>G c.1088T>G (p.Leu363Arg) | |
| 16 | g.31462540C>A | CA494933947 | ARMC5 | c.993C>A (p.Leu331=) c.1278C>A (p.Leu426=) c.501C>A (p.Leu167=) c.213-232C>A c.1089C>A (p.Leu363=) | |
| 16 | g.31462540C>G | CA494933949 | ARMC5 | c.993C>G (p.Leu331=) c.1278C>G (p.Leu426=) c.501C>G (p.Leu167=) c.213-232C>G c.1089C>G (p.Leu363=) | |
| 16 | g.31462540C>T | CA494933948 | ARMC5 | c.993C>T (p.Leu331=) c.1278C>T (p.Leu426=) c.501C>T (p.Leu167=) c.213-232C>T c.1089C>T (p.Leu363=) | gnomAD v4 |
| 16 | g.31462541del | CA2732051727 | ARMC5 | c.994del (p.Arg332GlyfsTer?) c.1279del (p.Arg427GlyfsTer?) c.502del (p.Arg168GlyfsTer?) c.213-231del c.1090del (p.Arg364GlyfsTer?) | dbSNP |
| 16 | g.31462541C>A | CA494933952 | ARMC5 | c.994C>A (p.Arg332=) c.1279C>A (p.Arg427=) c.502C>A (p.Arg168=) c.213-231C>A c.1090C>A (p.Arg364=) | gnomAD v4 |
| 16 | g.31462541C= | CA2217060676 | ARMC5 | c.994C= (p.Arg332=) c.1279C= (p.Arg427=) c.502C= (p.Arg168=) c.213-231C= c.1090C= (p.Arg364=) | |
| 16 | g.31462541C>G | CA395733254 | ARMC5 | c.994C>G (p.Arg332Gly) c.1279C>G (p.Arg427Gly) c.502C>G (p.Arg168Gly) c.213-231C>G c.1090C>G (p.Arg364Gly) | |
| 16 | g.31462541C>T | CA8029587 | ARMC5 | c.994C>T (p.Arg332Trp) c.1279C>T (p.Arg427Trp) c.502C>T (p.Arg168Trp) c.213-231C>T c.1090C>T (p.Arg364Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462542G>A | CA280639878 | ARMC5 | c.995G>A (p.Arg332Gln) c.1280G>A (p.Arg427Gln) c.503G>A (p.Arg168Gln) c.213-230G>A c.1091G>A (p.Arg364Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462542G>C | CA395733255 | ARMC5 | c.995G>C (p.Arg332Pro) c.1280G>C (p.Arg427Pro) c.503G>C (p.Arg168Pro) c.213-230G>C c.1091G>C (p.Arg364Pro) | |
| 16 | g.31462542G= | CA2217060677 | ARMC5 | c.995G= (p.Arg332=) c.1280G= (p.Arg427=) c.503G= (p.Arg168=) c.213-230G= c.1091G= (p.Arg364=) | |
| 16 | g.31462542G>T | CA395733256 | ARMC5 | c.995G>T (p.Arg332Leu) c.1280G>T (p.Arg427Leu) c.503G>T (p.Arg168Leu) c.213-230G>T c.1091G>T (p.Arg364Leu) |