| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28141787C>A | CA391381927 | HERC2 | c.11760G>T (p.Glu3920Asp) c.3471G>T (p.Glu1157Asp) n.275G>T c.11646G>T (p.Glu3882Asp) c.11745G>T (p.Glu3915Asp) c.11502G>T (p.Glu3834Asp) c.11277G>T (p.Glu3759Asp) c.9276G>T (p.Glu3092Asp) c.8505G>T (p.Glu2835Asp) c.5877G>T (p.Glu1959Asp) c.4926G>T (p.Glu1642Asp) | |
| 15 | g.28141787C= | CA2166480097 | HERC2 | c.11760G= (p.Glu3920=) c.3471G= (p.Glu1157=) n.275G= c.11646G= (p.Glu3882=) c.11745G= (p.Glu3915=) c.11502G= (p.Glu3834=) c.11277G= (p.Glu3759=) c.9276G= (p.Glu3092=) c.8505G= (p.Glu2835=) c.5877G= (p.Glu1959=) c.4926G= (p.Glu1642=) | |
| 15 | g.28141787C>G | CA391381928 | HERC2 | c.11760G>C (p.Glu3920Asp) c.3471G>C (p.Glu1157Asp) n.275G>C c.11646G>C (p.Glu3882Asp) c.11745G>C (p.Glu3915Asp) c.11502G>C (p.Glu3834Asp) c.11277G>C (p.Glu3759Asp) c.9276G>C (p.Glu3092Asp) c.8505G>C (p.Glu2835Asp) c.5877G>C (p.Glu1959Asp) c.4926G>C (p.Glu1642Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141787C>T | CA489235040 | HERC2 | c.11760G>A (p.Glu3920=) c.3471G>A (p.Glu1157=) n.275G>A c.11646G>A (p.Glu3882=) c.11745G>A (p.Glu3915=) c.11502G>A (p.Glu3834=) c.11277G>A (p.Glu3759=) c.9276G>A (p.Glu3092=) c.8505G>A (p.Glu2835=) c.5877G>A (p.Glu1959=) c.4926G>A (p.Glu1642=) | |
| 15 | g.28141788T>A | CA391381929 | HERC2 | c.11759A>T (p.Glu3920Val) c.3470A>T (p.Glu1157Val) n.274A>T c.11645A>T (p.Glu3882Val) c.11744A>T (p.Glu3915Val) c.11501A>T (p.Glu3834Val) c.11276A>T (p.Glu3759Val) c.9275A>T (p.Glu3092Val) c.8504A>T (p.Glu2835Val) c.5876A>T (p.Glu1959Val) c.4925A>T (p.Glu1642Val) | |
| 15 | g.28141788T>C | CA391381930 | HERC2 | c.11759A>G (p.Glu3920Gly) c.3470A>G (p.Glu1157Gly) n.274A>G c.11645A>G (p.Glu3882Gly) c.11744A>G (p.Glu3915Gly) c.11501A>G (p.Glu3834Gly) c.11276A>G (p.Glu3759Gly) c.9275A>G (p.Glu3092Gly) c.8504A>G (p.Glu2835Gly) c.5876A>G (p.Glu1959Gly) c.4925A>G (p.Glu1642Gly) | |
| 15 | g.28141788T>G | CA391381931 | HERC2 | c.11759A>C (p.Glu3920Ala) c.3470A>C (p.Glu1157Ala) n.274A>C c.11645A>C (p.Glu3882Ala) c.11744A>C (p.Glu3915Ala) c.11501A>C (p.Glu3834Ala) c.11276A>C (p.Glu3759Ala) c.9275A>C (p.Glu3092Ala) c.8504A>C (p.Glu2835Ala) c.5876A>C (p.Glu1959Ala) c.4925A>C (p.Glu1642Ala) | |
| 15 | g.28141789C>A | CA391381934 | HERC2 | c.11758G>T (p.Glu3920Ter) c.3469G>T (p.Glu1157Ter) n.273G>T c.11644G>T (p.Glu3882Ter) c.11743G>T (p.Glu3915Ter) c.11500G>T (p.Glu3834Ter) c.11275G>T (p.Glu3759Ter) c.9274G>T (p.Glu3092Ter) c.8503G>T (p.Glu2835Ter) c.5875G>T (p.Glu1959Ter) c.4924G>T (p.Glu1642Ter) | |
| 15 | g.28141789C>G | CA391381933 | HERC2 | c.11758G>C (p.Glu3920Gln) c.3469G>C (p.Glu1157Gln) n.273G>C c.11644G>C (p.Glu3882Gln) c.11743G>C (p.Glu3915Gln) c.11500G>C (p.Glu3834Gln) c.11275G>C (p.Glu3759Gln) c.9274G>C (p.Glu3092Gln) c.8503G>C (p.Glu2835Gln) c.5875G>C (p.Glu1959Gln) c.4924G>C (p.Glu1642Gln) | |
| 15 | g.28141789C>T | CA391381932 | HERC2 | c.11758G>A (p.Glu3920Lys) c.3469G>A (p.Glu1157Lys) n.273G>A c.11644G>A (p.Glu3882Lys) c.11743G>A (p.Glu3915Lys) c.11500G>A (p.Glu3834Lys) c.11275G>A (p.Glu3759Lys) c.9274G>A (p.Glu3092Lys) c.8503G>A (p.Glu2835Lys) c.5875G>A (p.Glu1959Lys) c.4924G>A (p.Glu1642Lys) | |
| 15 | g.28141792_28141800del | CA2627386278 | HERC2 | c.11750_11758del (p.Val3917_His3919del) c.3461_3469del (p.Val1154_His1156del) n.265_273del c.11636_11644del (p.Val3879_His3881del) c.11735_11743del (p.Val3912_His3914del) c.11492_11500del (p.Val3831_His3833del) c.11267_11275del (p.Val3756_His3758del) c.9266_9274del (p.Val3089_His3091del) c.8495_8503del (p.Val2832_His2834del) c.5867_5875del (p.Val1956_His1958del) c.4916_4924del (p.Val1639_His1641del) | gnomAD v4 |
| 15 | g.28141790A= | CA2166480098 | HERC2 | c.11757T= (p.His3919=) c.3468T= (p.His1156=) n.272T= c.11643T= (p.His3881=) c.11742T= (p.His3914=) c.11499T= (p.His3833=) c.11274T= (p.His3758=) c.9273T= (p.His3091=) c.8502T= (p.His2834=) c.5874T= (p.His1958=) c.4923T= (p.His1641=) | |
| 15 | g.28141790A>C | CA391381935 | HERC2 | c.11757T>G (p.His3919Gln) c.3468T>G (p.His1156Gln) n.272T>G c.11643T>G (p.His3881Gln) c.11742T>G (p.His3914Gln) c.11499T>G (p.His3833Gln) c.11274T>G (p.His3758Gln) c.9273T>G (p.His3091Gln) c.8502T>G (p.His2834Gln) c.5874T>G (p.His1958Gln) c.4923T>G (p.His1641Gln) | |
| 15 | g.28141790A>G | CA489235041 | HERC2 | c.11757T>C (p.His3919=) c.3468T>C (p.His1156=) n.272T>C c.11643T>C (p.His3881=) c.11742T>C (p.His3914=) c.11499T>C (p.His3833=) c.11274T>C (p.His3758=) c.9273T>C (p.His3091=) c.8502T>C (p.His2834=) c.5874T>C (p.His1958=) c.4923T>C (p.His1641=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.28141790A>T | CA391381936 | HERC2 | c.11757T>A (p.His3919Gln) c.3468T>A (p.His1156Gln) n.272T>A c.11643T>A (p.His3881Gln) c.11742T>A (p.His3914Gln) c.11499T>A (p.His3833Gln) c.11274T>A (p.His3758Gln) c.9273T>A (p.His3091Gln) c.8502T>A (p.His2834Gln) c.5874T>A (p.His1958Gln) c.4923T>A (p.His1641Gln) | |
| 15 | g.28141791T>A | CA391381937 | HERC2 | c.11756A>T (p.His3919Leu) c.3467A>T (p.His1156Leu) n.271A>T c.11642A>T (p.His3881Leu) c.11741A>T (p.His3914Leu) c.11498A>T (p.His3833Leu) c.11273A>T (p.His3758Leu) c.9272A>T (p.His3091Leu) c.8501A>T (p.His2834Leu) c.5873A>T (p.His1958Leu) c.4922A>T (p.His1641Leu) | |
| 15 | g.28141791T>C | CA391381938 | HERC2 | c.11756A>G (p.His3919Arg) c.3467A>G (p.His1156Arg) n.271A>G c.11642A>G (p.His3881Arg) c.11741A>G (p.His3914Arg) c.11498A>G (p.His3833Arg) c.11273A>G (p.His3758Arg) c.9272A>G (p.His3091Arg) c.8501A>G (p.His2834Arg) c.5873A>G (p.His1958Arg) c.4922A>G (p.His1641Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141791T>G | CA391381939 | HERC2 | c.11756A>C (p.His3919Pro) c.3467A>C (p.His1156Pro) n.271A>C c.11642A>C (p.His3881Pro) c.11741A>C (p.His3914Pro) c.11498A>C (p.His3833Pro) c.11273A>C (p.His3758Pro) c.9272A>C (p.His3091Pro) c.8501A>C (p.His2834Pro) c.5873A>C (p.His1958Pro) c.4922A>C (p.His1641Pro) | |
| 15 | g.28141791T= | CA2166480099 | HERC2 | c.11756A= (p.His3919=) c.3467A= (p.His1156=) n.271A= c.11642A= (p.His3881=) c.11741A= (p.His3914=) c.11498A= (p.His3833=) c.11273A= (p.His3758=) c.9272A= (p.His3091=) c.8501A= (p.His2834=) c.5873A= (p.His1958=) c.4922A= (p.His1641=) | |
| 15 | g.28141792G>A | CA391381940 | HERC2 | c.11755C>T (p.His3919Tyr) c.3466C>T (p.His1156Tyr) n.270C>T c.11641C>T (p.His3881Tyr) c.11740C>T (p.His3914Tyr) c.11497C>T (p.His3833Tyr) c.11272C>T (p.His3758Tyr) c.9271C>T (p.His3091Tyr) c.8500C>T (p.His2834Tyr) c.5872C>T (p.His1958Tyr) c.4921C>T (p.His1641Tyr) | gnomAD v4 |
| 15 | g.28141792G>C | CA391381941 | HERC2 | c.11755C>G (p.His3919Asp) c.3466C>G (p.His1156Asp) n.270C>G c.11641C>G (p.His3881Asp) c.11740C>G (p.His3914Asp) c.11497C>G (p.His3833Asp) c.11272C>G (p.His3758Asp) c.9271C>G (p.His3091Asp) c.8500C>G (p.His2834Asp) c.5872C>G (p.His1958Asp) c.4921C>G (p.His1641Asp) | |
| 15 | g.28141792G>T | CA391381942 | HERC2 | c.11755C>A (p.His3919Asn) c.3466C>A (p.His1156Asn) n.270C>A c.11641C>A (p.His3881Asn) c.11740C>A (p.His3914Asn) c.11497C>A (p.His3833Asn) c.11272C>A (p.His3758Asn) c.9271C>A (p.His3091Asn) c.8500C>A (p.His2834Asn) c.5872C>A (p.His1958Asn) c.4921C>A (p.His1641Asn) | |
| 15 | g.28141793C>A | CA489235045 | HERC2 | c.11754G>T (p.Leu3918=) c.3465G>T (p.Leu1155=) n.269G>T c.11640G>T (p.Leu3880=) c.11739G>T (p.Leu3913=) c.11496G>T (p.Leu3832=) c.11271G>T (p.Leu3757=) c.9270G>T (p.Leu3090=) c.8499G>T (p.Leu2833=) c.5871G>T (p.Leu1957=) c.4920G>T (p.Leu1640=) | |
| 15 | g.28141793C>G | CA489235047 | HERC2 | c.11754G>C (p.Leu3918=) c.3465G>C (p.Leu1155=) n.269G>C c.11640G>C (p.Leu3880=) c.11739G>C (p.Leu3913=) c.11496G>C (p.Leu3832=) c.11271G>C (p.Leu3757=) c.9270G>C (p.Leu3090=) c.8499G>C (p.Leu2833=) c.5871G>C (p.Leu1957=) c.4920G>C (p.Leu1640=) | |
| 15 | g.28141793C>T | CA489235046 | HERC2 | c.11754G>A (p.Leu3918=) c.3465G>A (p.Leu1155=) n.269G>A c.11640G>A (p.Leu3880=) c.11739G>A (p.Leu3913=) c.11496G>A (p.Leu3832=) c.11271G>A (p.Leu3757=) c.9270G>A (p.Leu3090=) c.8499G>A (p.Leu2833=) c.5871G>A (p.Leu1957=) c.4920G>A (p.Leu1640=) | |
| 15 | g.28141794A= | CA2166480100 | HERC2 | c.11753T= (p.Leu3918=) c.3464T= (p.Leu1155=) n.268T= c.11639T= (p.Leu3880=) c.11738T= (p.Leu3913=) c.11495T= (p.Leu3832=) c.11270T= (p.Leu3757=) c.9269T= (p.Leu3090=) c.8498T= (p.Leu2833=) c.5870T= (p.Leu1957=) c.4919T= (p.Leu1640=) | |
| 15 | g.28141794A>C | CA391381943 | HERC2 | c.11753T>G (p.Leu3918Arg) c.3464T>G (p.Leu1155Arg) n.268T>G c.11639T>G (p.Leu3880Arg) c.11738T>G (p.Leu3913Arg) c.11495T>G (p.Leu3832Arg) c.11270T>G (p.Leu3757Arg) c.9269T>G (p.Leu3090Arg) c.8498T>G (p.Leu2833Arg) c.5870T>G (p.Leu1957Arg) c.4919T>G (p.Leu1640Arg) | |
| 15 | g.28141794A>G | CA391381944 | HERC2 | c.11753T>C (p.Leu3918Pro) c.3464T>C (p.Leu1155Pro) n.268T>C c.11639T>C (p.Leu3880Pro) c.11738T>C (p.Leu3913Pro) c.11495T>C (p.Leu3832Pro) c.11270T>C (p.Leu3757Pro) c.9269T>C (p.Leu3090Pro) c.8498T>C (p.Leu2833Pro) c.5870T>C (p.Leu1957Pro) c.4919T>C (p.Leu1640Pro) | dbSNP gnomAD v4 |
| 15 | g.28141794A>T | CA391381945 | HERC2 | c.11753T>A (p.Leu3918Gln) c.3464T>A (p.Leu1155Gln) n.268T>A c.11639T>A (p.Leu3880Gln) c.11738T>A (p.Leu3913Gln) c.11495T>A (p.Leu3832Gln) c.11270T>A (p.Leu3757Gln) c.9269T>A (p.Leu3090Gln) c.8498T>A (p.Leu2833Gln) c.5870T>A (p.Leu1957Gln) c.4919T>A (p.Leu1640Gln) | |
| 15 | g.28141795G>A | CA489235048 | HERC2 | c.11752C>T (p.Leu3918=) c.3463C>T (p.Leu1155=) n.267C>T c.11638C>T (p.Leu3880=) c.11737C>T (p.Leu3913=) c.11494C>T (p.Leu3832=) c.11269C>T (p.Leu3757=) c.9268C>T (p.Leu3090=) c.8497C>T (p.Leu2833=) c.5869C>T (p.Leu1957=) c.4918C>T (p.Leu1640=) | |
| 15 | g.28141795G>C | CA391381946 | HERC2 | c.11752C>G (p.Leu3918Val) c.3463C>G (p.Leu1155Val) n.267C>G c.11638C>G (p.Leu3880Val) c.11737C>G (p.Leu3913Val) c.11494C>G (p.Leu3832Val) c.11269C>G (p.Leu3757Val) c.9268C>G (p.Leu3090Val) c.8497C>G (p.Leu2833Val) c.5869C>G (p.Leu1957Val) c.4918C>G (p.Leu1640Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141795G= | CA2166480101 | HERC2 | c.11752C= (p.Leu3918=) c.3463C= (p.Leu1155=) n.267C= c.11638C= (p.Leu3880=) c.11737C= (p.Leu3913=) c.11494C= (p.Leu3832=) c.11269C= (p.Leu3757=) c.9268C= (p.Leu3090=) c.8497C= (p.Leu2833=) c.5869C= (p.Leu1957=) c.4918C= (p.Leu1640=) | |
| 15 | g.28141795G>T | CA7440474 | HERC2 | c.11752C>A (p.Leu3918Met) c.3463C>A (p.Leu1155Met) n.267C>A c.11638C>A (p.Leu3880Met) c.11737C>A (p.Leu3913Met) c.11494C>A (p.Leu3832Met) c.11269C>A (p.Leu3757Met) c.9268C>A (p.Leu3090Met) c.8497C>A (p.Leu2833Met) c.5869C>A (p.Leu1957Met) c.4918C>A (p.Leu1640Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141796A= | CA2166480102 | HERC2 | c.11751T= (p.Val3917=) c.3462T= (p.Val1154=) n.266T= c.11637T= (p.Val3879=) c.11736T= (p.Val3912=) c.11493T= (p.Val3831=) c.11268T= (p.Val3756=) c.9267T= (p.Val3089=) c.8496T= (p.Val2832=) c.5868T= (p.Val1956=) c.4917T= (p.Val1639=) | |
| 15 | g.28141796A>C | CA489235050 | HERC2 | c.11751T>G (p.Val3917=) c.3462T>G (p.Val1154=) n.266T>G c.11637T>G (p.Val3879=) c.11736T>G (p.Val3912=) c.11493T>G (p.Val3831=) c.11268T>G (p.Val3756=) c.9267T>G (p.Val3089=) c.8496T>G (p.Val2832=) c.5868T>G (p.Val1956=) c.4917T>G (p.Val1639=) | |
| 15 | g.28141796A>G | CA489235052 | HERC2 | c.11751T>C (p.Val3917=) c.3462T>C (p.Val1154=) n.266T>C c.11637T>C (p.Val3879=) c.11736T>C (p.Val3912=) c.11493T>C (p.Val3831=) c.11268T>C (p.Val3756=) c.9267T>C (p.Val3089=) c.8496T>C (p.Val2832=) c.5868T>C (p.Val1956=) c.4917T>C (p.Val1639=) | dbSNP |
| 15 | g.28141796A>T | CA489235054 | HERC2 | c.11751T>A (p.Val3917=) c.3462T>A (p.Val1154=) n.266T>A c.11637T>A (p.Val3879=) c.11736T>A (p.Val3912=) c.11493T>A (p.Val3831=) c.11268T>A (p.Val3756=) c.9267T>A (p.Val3089=) c.8496T>A (p.Val2832=) c.5868T>A (p.Val1956=) c.4917T>A (p.Val1639=) | |
| 15 | g.28141797A>C | CA391381948 | HERC2 | c.11750T>G (p.Val3917Gly) c.3461T>G (p.Val1154Gly) n.265T>G c.11636T>G (p.Val3879Gly) c.11735T>G (p.Val3912Gly) c.11492T>G (p.Val3831Gly) c.11267T>G (p.Val3756Gly) c.9266T>G (p.Val3089Gly) c.8495T>G (p.Val2832Gly) c.5867T>G (p.Val1956Gly) c.4916T>G (p.Val1639Gly) | |
| 15 | g.28141797A>G | CA391381949 | HERC2 | c.11750T>C (p.Val3917Ala) c.3461T>C (p.Val1154Ala) n.265T>C c.11636T>C (p.Val3879Ala) c.11735T>C (p.Val3912Ala) c.11492T>C (p.Val3831Ala) c.11267T>C (p.Val3756Ala) c.9266T>C (p.Val3089Ala) c.8495T>C (p.Val2832Ala) c.5867T>C (p.Val1956Ala) c.4916T>C (p.Val1639Ala) | |
| 15 | g.28141797A>T | CA391381947 | HERC2 | c.11750T>A (p.Val3917Asp) c.3461T>A (p.Val1154Asp) n.265T>A c.11636T>A (p.Val3879Asp) c.11735T>A (p.Val3912Asp) c.11492T>A (p.Val3831Asp) c.11267T>A (p.Val3756Asp) c.9266T>A (p.Val3089Asp) c.8495T>A (p.Val2832Asp) c.5867T>A (p.Val1956Asp) c.4916T>A (p.Val1639Asp) | |
| 15 | g.28141798C>A | CA391381950 | HERC2 | c.11749G>T (p.Val3917Phe) c.3460G>T (p.Val1154Phe) n.264G>T c.11635G>T (p.Val3879Phe) c.11734G>T (p.Val3912Phe) c.11491G>T (p.Val3831Phe) c.11266G>T (p.Val3756Phe) c.9265G>T (p.Val3089Phe) c.8494G>T (p.Val2832Phe) c.5866G>T (p.Val1956Phe) c.4915G>T (p.Val1639Phe) | gnomAD v4 COSMIC |
| 15 | g.28141798C= | CA2166480103 | HERC2 | c.11749G= (p.Val3917=) c.3460G= (p.Val1154=) n.264G= c.11635G= (p.Val3879=) c.11734G= (p.Val3912=) c.11491G= (p.Val3831=) c.11266G= (p.Val3756=) c.9265G= (p.Val3089=) c.8494G= (p.Val2832=) c.5866G= (p.Val1956=) c.4915G= (p.Val1639=) | |
| 15 | g.28141798C>G | CA391381951 | HERC2 | c.11749G>C (p.Val3917Leu) c.3460G>C (p.Val1154Leu) n.264G>C c.11635G>C (p.Val3879Leu) c.11734G>C (p.Val3912Leu) c.11491G>C (p.Val3831Leu) c.11266G>C (p.Val3756Leu) c.9265G>C (p.Val3089Leu) c.8494G>C (p.Val2832Leu) c.5866G>C (p.Val1956Leu) c.4915G>C (p.Val1639Leu) | |
| 15 | g.28141798C>T | CA7440475 | HERC2 | c.11749G>A (p.Val3917Ile) c.3460G>A (p.Val1154Ile) n.264G>A c.11635G>A (p.Val3879Ile) c.11734G>A (p.Val3912Ile) c.11491G>A (p.Val3831Ile) c.11266G>A (p.Val3756Ile) c.9265G>A (p.Val3089Ile) c.8494G>A (p.Val2832Ile) c.5866G>A (p.Val1956Ile) c.4915G>A (p.Val1639Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141799A>C | CA391381952 | HERC2 | c.11748T>G (p.Asp3916Glu) c.3459T>G (p.Asp1153Glu) n.263T>G c.11634T>G (p.Asp3878Glu) c.11733T>G (p.Asp3911Glu) c.11490T>G (p.Asp3830Glu) c.11265T>G (p.Asp3755Glu) c.9264T>G (p.Asp3088Glu) c.8493T>G (p.Asp2831Glu) c.5865T>G (p.Asp1955Glu) c.4914T>G (p.Asp1638Glu) | |
| 15 | g.28141799A>G | CA489235055 | HERC2 | c.11748T>C (p.Asp3916=) c.3459T>C (p.Asp1153=) n.263T>C c.11634T>C (p.Asp3878=) c.11733T>C (p.Asp3911=) c.11490T>C (p.Asp3830=) c.11265T>C (p.Asp3755=) c.9264T>C (p.Asp3088=) c.8493T>C (p.Asp2831=) c.5865T>C (p.Asp1955=) c.4914T>C (p.Asp1638=) | |
| 15 | g.28141799A>T | CA391381953 | HERC2 | c.11748T>A (p.Asp3916Glu) c.3459T>A (p.Asp1153Glu) n.263T>A c.11634T>A (p.Asp3878Glu) c.11733T>A (p.Asp3911Glu) c.11490T>A (p.Asp3830Glu) c.11265T>A (p.Asp3755Glu) c.9264T>A (p.Asp3088Glu) c.8493T>A (p.Asp2831Glu) c.5865T>A (p.Asp1955Glu) c.4914T>A (p.Asp1638Glu) | |
| 15 | g.28141800T>A | CA391381954 | HERC2 | c.11747A>T (p.Asp3916Val) c.3458A>T (p.Asp1153Val) n.262A>T c.11633A>T (p.Asp3878Val) c.11732A>T (p.Asp3911Val) c.11489A>T (p.Asp3830Val) c.11264A>T (p.Asp3755Val) c.9263A>T (p.Asp3088Val) c.8492A>T (p.Asp2831Val) c.5864A>T (p.Asp1955Val) c.4913A>T (p.Asp1638Val) | |
| 15 | g.28141800T>C | CA391381955 | HERC2 | c.11747A>G (p.Asp3916Gly) c.3458A>G (p.Asp1153Gly) n.262A>G c.11633A>G (p.Asp3878Gly) c.11732A>G (p.Asp3911Gly) c.11489A>G (p.Asp3830Gly) c.11264A>G (p.Asp3755Gly) c.9263A>G (p.Asp3088Gly) c.8492A>G (p.Asp2831Gly) c.5864A>G (p.Asp1955Gly) c.4913A>G (p.Asp1638Gly) | |
| 15 | g.28141800T>G | CA391381956 | HERC2 | c.11747A>C (p.Asp3916Ala) c.3458A>C (p.Asp1153Ala) n.262A>C c.11633A>C (p.Asp3878Ala) c.11732A>C (p.Asp3911Ala) c.11489A>C (p.Asp3830Ala) c.11264A>C (p.Asp3755Ala) c.9263A>C (p.Asp3088Ala) c.8492A>C (p.Asp2831Ala) c.5864A>C (p.Asp1955Ala) c.4913A>C (p.Asp1638Ala) | |
| 15 | g.28141801C>A | CA391381957 | HERC2 | c.11746G>T (p.Asp3916Tyr) c.3457G>T (p.Asp1153Tyr) n.261G>T c.11632G>T (p.Asp3878Tyr) c.11731G>T (p.Asp3911Tyr) c.11488G>T (p.Asp3830Tyr) c.11263G>T (p.Asp3755Tyr) c.9262G>T (p.Asp3088Tyr) c.8491G>T (p.Asp2831Tyr) c.5863G>T (p.Asp1955Tyr) c.4912G>T (p.Asp1638Tyr) | |
| 15 | g.28141801C= | CA2166480104 | HERC2 | c.11746G= (p.Asp3916=) c.3457G= (p.Asp1153=) n.261G= c.11632G= (p.Asp3878=) c.11731G= (p.Asp3911=) c.11488G= (p.Asp3830=) c.11263G= (p.Asp3755=) c.9262G= (p.Asp3088=) c.8491G= (p.Asp2831=) c.5863G= (p.Asp1955=) c.4912G= (p.Asp1638=) | |
| 15 | g.28141801C>G | CA391381958 | HERC2 | c.11746G>C (p.Asp3916His) c.3457G>C (p.Asp1153His) n.261G>C c.11632G>C (p.Asp3878His) c.11731G>C (p.Asp3911His) c.11488G>C (p.Asp3830His) c.11263G>C (p.Asp3755His) c.9262G>C (p.Asp3088His) c.8491G>C (p.Asp2831His) c.5863G>C (p.Asp1955His) c.4912G>C (p.Asp1638His) | |
| 15 | g.28141801C>T | CA7440476 | HERC2 | c.11746G>A (p.Asp3916Asn) c.3457G>A (p.Asp1153Asn) n.261G>A c.11632G>A (p.Asp3878Asn) c.11731G>A (p.Asp3911Asn) c.11488G>A (p.Asp3830Asn) c.11263G>A (p.Asp3755Asn) c.9262G>A (p.Asp3088Asn) c.8491G>A (p.Asp2831Asn) c.5863G>A (p.Asp1955Asn) c.4912G>A (p.Asp1638Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141802C>A | CA391381961 | HERC2 | c.11745G>T (p.Met3915Ile) c.3456G>T (p.Met1152Ile) n.260G>T c.11631G>T (p.Met3877Ile) c.11730G>T (p.Met3910Ile) c.11487G>T (p.Met3829Ile) c.11262G>T (p.Met3754Ile) c.9261G>T (p.Met3087Ile) c.8490G>T (p.Met2830Ile) c.5862G>T (p.Met1954Ile) c.4911G>T (p.Met1637Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141802C= | CA2166480105 | HERC2 | c.11745G= (p.Met3915=) c.3456G= (p.Met1152=) n.260G= c.11631G= (p.Met3877=) c.11730G= (p.Met3910=) c.11487G= (p.Met3829=) c.11262G= (p.Met3754=) c.9261G= (p.Met3087=) c.8490G= (p.Met2830=) c.5862G= (p.Met1954=) c.4911G= (p.Met1637=) | |
| 15 | g.28141802C>G | CA391381960 | HERC2 | c.11745G>C (p.Met3915Ile) c.3456G>C (p.Met1152Ile) n.260G>C c.11631G>C (p.Met3877Ile) c.11730G>C (p.Met3910Ile) c.11487G>C (p.Met3829Ile) c.11262G>C (p.Met3754Ile) c.9261G>C (p.Met3087Ile) c.8490G>C (p.Met2830Ile) c.5862G>C (p.Met1954Ile) c.4911G>C (p.Met1637Ile) | |
| 15 | g.28141802C>T | CA391381959 | HERC2 | c.11745G>A (p.Met3915Ile) c.3456G>A (p.Met1152Ile) n.260G>A c.11631G>A (p.Met3877Ile) c.11730G>A (p.Met3910Ile) c.11487G>A (p.Met3829Ile) c.11262G>A (p.Met3754Ile) c.9261G>A (p.Met3087Ile) c.8490G>A (p.Met2830Ile) c.5862G>A (p.Met1954Ile) c.4911G>A (p.Met1637Ile) | |
| 15 | g.28141803A>C | CA391381962 | HERC2 | c.11744T>G (p.Met3915Arg) c.3455T>G (p.Met1152Arg) n.259T>G c.11630T>G (p.Met3877Arg) c.11729T>G (p.Met3910Arg) c.11486T>G (p.Met3829Arg) c.11261T>G (p.Met3754Arg) c.9260T>G (p.Met3087Arg) c.8489T>G (p.Met2830Arg) c.5861T>G (p.Met1954Arg) c.4910T>G (p.Met1637Arg) | |
| 15 | g.28141803A>G | CA391381963 | HERC2 | c.11744T>C (p.Met3915Thr) c.3455T>C (p.Met1152Thr) n.259T>C c.11630T>C (p.Met3877Thr) c.11729T>C (p.Met3910Thr) c.11486T>C (p.Met3829Thr) c.11261T>C (p.Met3754Thr) c.9260T>C (p.Met3087Thr) c.8489T>C (p.Met2830Thr) c.5861T>C (p.Met1954Thr) c.4910T>C (p.Met1637Thr) | gnomAD v4 |
| 15 | g.28141803A>T | CA391381964 | HERC2 | c.11744T>A (p.Met3915Lys) c.3455T>A (p.Met1152Lys) n.259T>A c.11630T>A (p.Met3877Lys) c.11729T>A (p.Met3910Lys) c.11486T>A (p.Met3829Lys) c.11261T>A (p.Met3754Lys) c.9260T>A (p.Met3087Lys) c.8489T>A (p.Met2830Lys) c.5861T>A (p.Met1954Lys) c.4910T>A (p.Met1637Lys) | |
| 15 | g.28141804T>A | CA391381965 | HERC2 | c.11743A>T (p.Met3915Leu) c.3454A>T (p.Met1152Leu) n.258A>T c.11629A>T (p.Met3877Leu) c.11728A>T (p.Met3910Leu) c.11485A>T (p.Met3829Leu) c.11260A>T (p.Met3754Leu) c.9259A>T (p.Met3087Leu) c.8488A>T (p.Met2830Leu) c.5860A>T (p.Met1954Leu) c.4909A>T (p.Met1637Leu) | |
| 15 | g.28141804T>C | CA267946441 | HERC2 | c.11743A>G (p.Met3915Val) c.3454A>G (p.Met1152Val) n.258A>G c.11629A>G (p.Met3877Val) c.11728A>G (p.Met3910Val) c.11485A>G (p.Met3829Val) c.11260A>G (p.Met3754Val) c.9259A>G (p.Met3087Val) c.8488A>G (p.Met2830Val) c.5860A>G (p.Met1954Val) c.4909A>G (p.Met1637Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141804T>G | CA391381966 | HERC2 | c.11743A>C (p.Met3915Leu) c.3454A>C (p.Met1152Leu) n.258A>C c.11629A>C (p.Met3877Leu) c.11728A>C (p.Met3910Leu) c.11485A>C (p.Met3829Leu) c.11260A>C (p.Met3754Leu) c.9259A>C (p.Met3087Leu) c.8488A>C (p.Met2830Leu) c.5860A>C (p.Met1954Leu) c.4909A>C (p.Met1637Leu) | |
| 15 | g.28141804T= | CA2166480106 | HERC2 | c.11743A= (p.Met3915=) c.3454A= (p.Met1152=) n.258A= c.11629A= (p.Met3877=) c.11728A= (p.Met3910=) c.11485A= (p.Met3829=) c.11260A= (p.Met3754=) c.9259A= (p.Met3087=) c.8488A= (p.Met2830=) c.5860A= (p.Met1954=) c.4909A= (p.Met1637=) | |
| 15 | g.28141805G>A | CA489235061 | HERC2 | c.11742C>T (p.Asn3914=) c.3453C>T (p.Asn1151=) n.257C>T c.11628C>T (p.Asn3876=) c.11727C>T (p.Asn3909=) c.11484C>T (p.Asn3828=) c.11259C>T (p.Asn3753=) c.9258C>T (p.Asn3086=) c.8487C>T (p.Asn2829=) c.5859C>T (p.Asn1953=) c.4908C>T (p.Asn1636=) | |
| 15 | g.28141805G>C | CA391381967 | HERC2 | c.11742C>G (p.Asn3914Lys) c.3453C>G (p.Asn1151Lys) n.257C>G c.11628C>G (p.Asn3876Lys) c.11727C>G (p.Asn3909Lys) c.11484C>G (p.Asn3828Lys) c.11259C>G (p.Asn3753Lys) c.9258C>G (p.Asn3086Lys) c.8487C>G (p.Asn2829Lys) c.5859C>G (p.Asn1953Lys) c.4908C>G (p.Asn1636Lys) | |
| 15 | g.28141805G>T | CA391381968 | HERC2 | c.11742C>A (p.Asn3914Lys) c.3453C>A (p.Asn1151Lys) n.257C>A c.11628C>A (p.Asn3876Lys) c.11727C>A (p.Asn3909Lys) c.11484C>A (p.Asn3828Lys) c.11259C>A (p.Asn3753Lys) c.9258C>A (p.Asn3086Lys) c.8487C>A (p.Asn2829Lys) c.5859C>A (p.Asn1953Lys) c.4908C>A (p.Asn1636Lys) | |
| 15 | g.28141806T>A | CA391381969 | HERC2 | c.11741A>T (p.Asn3914Ile) c.3452A>T (p.Asn1151Ile) n.256A>T c.11627A>T (p.Asn3876Ile) c.11726A>T (p.Asn3909Ile) c.11483A>T (p.Asn3828Ile) c.11258A>T (p.Asn3753Ile) c.9257A>T (p.Asn3086Ile) c.8486A>T (p.Asn2829Ile) c.5858A>T (p.Asn1953Ile) c.4907A>T (p.Asn1636Ile) | |
| 15 | g.28141806T>C | CA391381970 | HERC2 | c.11741A>G (p.Asn3914Ser) c.3452A>G (p.Asn1151Ser) n.256A>G c.11627A>G (p.Asn3876Ser) c.11726A>G (p.Asn3909Ser) c.11483A>G (p.Asn3828Ser) c.11258A>G (p.Asn3753Ser) c.9257A>G (p.Asn3086Ser) c.8486A>G (p.Asn2829Ser) c.5858A>G (p.Asn1953Ser) c.4907A>G (p.Asn1636Ser) | |
| 15 | g.28141806T>G | CA391381971 | HERC2 | c.11741A>C (p.Asn3914Thr) c.3452A>C (p.Asn1151Thr) n.256A>C c.11627A>C (p.Asn3876Thr) c.11726A>C (p.Asn3909Thr) c.11483A>C (p.Asn3828Thr) c.11258A>C (p.Asn3753Thr) c.9257A>C (p.Asn3086Thr) c.8486A>C (p.Asn2829Thr) c.5858A>C (p.Asn1953Thr) c.4907A>C (p.Asn1636Thr) | |
| 15 | g.28141807T>A | CA391381974 | HERC2 | c.11740A>T (p.Asn3914Tyr) c.3451A>T (p.Asn1151Tyr) n.255A>T c.11626A>T (p.Asn3876Tyr) c.11725A>T (p.Asn3909Tyr) c.11482A>T (p.Asn3828Tyr) c.11257A>T (p.Asn3753Tyr) c.9256A>T (p.Asn3086Tyr) c.8485A>T (p.Asn2829Tyr) c.5857A>T (p.Asn1953Tyr) c.4906A>T (p.Asn1636Tyr) | |
| 15 | g.28141807T>C | CA391381973 | HERC2 | c.11740A>G (p.Asn3914Asp) c.3451A>G (p.Asn1151Asp) n.255A>G c.11626A>G (p.Asn3876Asp) c.11725A>G (p.Asn3909Asp) c.11482A>G (p.Asn3828Asp) c.11257A>G (p.Asn3753Asp) c.9256A>G (p.Asn3086Asp) c.8485A>G (p.Asn2829Asp) c.5857A>G (p.Asn1953Asp) c.4906A>G (p.Asn1636Asp) | |
| 15 | g.28141807T>G | CA391381972 | HERC2 | c.11740A>C (p.Asn3914His) c.3451A>C (p.Asn1151His) n.255A>C c.11626A>C (p.Asn3876His) c.11725A>C (p.Asn3909His) c.11482A>C (p.Asn3828His) c.11257A>C (p.Asn3753His) c.9256A>C (p.Asn3086His) c.8485A>C (p.Asn2829His) c.5857A>C (p.Asn1953His) c.4906A>C (p.Asn1636His) | |
| 15 | g.28141808T>A | CA391381975 | HERC2 | c.11739A>T (p.Glu3913Asp) c.3450A>T (p.Glu1150Asp) n.254A>T c.11625A>T (p.Glu3875Asp) c.11724A>T (p.Glu3908Asp) c.11481A>T (p.Glu3827Asp) c.11256A>T (p.Glu3752Asp) c.9255A>T (p.Glu3085Asp) c.8484A>T (p.Glu2828Asp) c.5856A>T (p.Glu1952Asp) c.4905A>T (p.Glu1635Asp) | |
| 15 | g.28141808T>C | CA489235064 | HERC2 | c.11739A>G (p.Glu3913=) c.3450A>G (p.Glu1150=) n.254A>G c.11625A>G (p.Glu3875=) c.11724A>G (p.Glu3908=) c.11481A>G (p.Glu3827=) c.11256A>G (p.Glu3752=) c.9255A>G (p.Glu3085=) c.8484A>G (p.Glu2828=) c.5856A>G (p.Glu1952=) c.4905A>G (p.Glu1635=) | |
| 15 | g.28141808T>G | CA391381976 | HERC2 | c.11739A>C (p.Glu3913Asp) c.3450A>C (p.Glu1150Asp) n.254A>C c.11625A>C (p.Glu3875Asp) c.11724A>C (p.Glu3908Asp) c.11481A>C (p.Glu3827Asp) c.11256A>C (p.Glu3752Asp) c.9255A>C (p.Glu3085Asp) c.8484A>C (p.Glu2828Asp) c.5856A>C (p.Glu1952Asp) c.4905A>C (p.Glu1635Asp) | |
| 15 | g.28141809T>A | CA391381977 | HERC2 | c.11738A>T (p.Glu3913Val) c.3449A>T (p.Glu1150Val) n.253A>T c.11624A>T (p.Glu3875Val) c.11723A>T (p.Glu3908Val) c.11480A>T (p.Glu3827Val) c.11255A>T (p.Glu3752Val) c.9254A>T (p.Glu3085Val) c.8483A>T (p.Glu2828Val) c.5855A>T (p.Glu1952Val) c.4904A>T (p.Glu1635Val) | |
| 15 | g.28141809T>C | CA391381978 | HERC2 | c.11738A>G (p.Glu3913Gly) c.3449A>G (p.Glu1150Gly) n.253A>G c.11624A>G (p.Glu3875Gly) c.11723A>G (p.Glu3908Gly) c.11480A>G (p.Glu3827Gly) c.11255A>G (p.Glu3752Gly) c.9254A>G (p.Glu3085Gly) c.8483A>G (p.Glu2828Gly) c.5855A>G (p.Glu1952Gly) c.4904A>G (p.Glu1635Gly) | |
| 15 | g.28141809T>G | CA391381979 | HERC2 | c.11738A>C (p.Glu3913Ala) c.3449A>C (p.Glu1150Ala) n.253A>C c.11624A>C (p.Glu3875Ala) c.11723A>C (p.Glu3908Ala) c.11480A>C (p.Glu3827Ala) c.11255A>C (p.Glu3752Ala) c.9254A>C (p.Glu3085Ala) c.8483A>C (p.Glu2828Ala) c.5855A>C (p.Glu1952Ala) c.4904A>C (p.Glu1635Ala) | |
| 15 | g.28141810C>A | CA391381980 | HERC2 | c.11737G>T (p.Glu3913Ter) c.3448G>T (p.Glu1150Ter) n.252G>T c.11623G>T (p.Glu3875Ter) c.11722G>T (p.Glu3908Ter) c.11479G>T (p.Glu3827Ter) c.11254G>T (p.Glu3752Ter) c.9253G>T (p.Glu3085Ter) c.8482G>T (p.Glu2828Ter) c.5854G>T (p.Glu1952Ter) c.4903G>T (p.Glu1635Ter) | |
| 15 | g.28141810C= | CA2166480107 | HERC2 | c.11737G= (p.Glu3913=) c.3448G= (p.Glu1150=) n.252G= c.11623G= (p.Glu3875=) c.11722G= (p.Glu3908=) c.11479G= (p.Glu3827=) c.11254G= (p.Glu3752=) c.9253G= (p.Glu3085=) c.8482G= (p.Glu2828=) c.5854G= (p.Glu1952=) c.4903G= (p.Glu1635=) | |
| 15 | g.28141810C>G | CA391381981 | HERC2 | c.11737G>C (p.Glu3913Gln) c.3448G>C (p.Glu1150Gln) n.252G>C c.11623G>C (p.Glu3875Gln) c.11722G>C (p.Glu3908Gln) c.11479G>C (p.Glu3827Gln) c.11254G>C (p.Glu3752Gln) c.9253G>C (p.Glu3085Gln) c.8482G>C (p.Glu2828Gln) c.5854G>C (p.Glu1952Gln) c.4903G>C (p.Glu1635Gln) | |
| 15 | g.28141810C>T | CA391381982 | HERC2 | c.11737G>A (p.Glu3913Lys) c.3448G>A (p.Glu1150Lys) n.252G>A c.11623G>A (p.Glu3875Lys) c.11722G>A (p.Glu3908Lys) c.11479G>A (p.Glu3827Lys) c.11254G>A (p.Glu3752Lys) c.9253G>A (p.Glu3085Lys) c.8482G>A (p.Glu2828Lys) c.5854G>A (p.Glu1952Lys) c.4903G>A (p.Glu1635Lys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.28141811G>A | CA7440477 | HERC2 | c.11736C>T (p.Ser3912=) c.3447C>T (p.Ser1149=) n.251C>T c.11622C>T (p.Ser3874=) c.11721C>T (p.Ser3907=) c.11478C>T (p.Ser3826=) c.11253C>T (p.Ser3751=) c.9252C>T (p.Ser3084=) c.8481C>T (p.Ser2827=) c.5853C>T (p.Ser1951=) c.4902C>T (p.Ser1634=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141811G>C | CA391381983 | HERC2 | c.11736C>G (p.Ser3912Arg) c.3447C>G (p.Ser1149Arg) n.251C>G c.11622C>G (p.Ser3874Arg) c.11721C>G (p.Ser3907Arg) c.11478C>G (p.Ser3826Arg) c.11253C>G (p.Ser3751Arg) c.9252C>G (p.Ser3084Arg) c.8481C>G (p.Ser2827Arg) c.5853C>G (p.Ser1951Arg) c.4902C>G (p.Ser1634Arg) | |
| 15 | g.28141811G= | CA2166480108 | HERC2 | c.11736C= (p.Ser3912=) c.3447C= (p.Ser1149=) n.251C= c.11622C= (p.Ser3874=) c.11721C= (p.Ser3907=) c.11478C= (p.Ser3826=) c.11253C= (p.Ser3751=) c.9252C= (p.Ser3084=) c.8481C= (p.Ser2827=) c.5853C= (p.Ser1951=) c.4902C= (p.Ser1634=) | |
| 15 | g.28141811G>T | CA391381984 | HERC2 | c.11736C>A (p.Ser3912Arg) c.3447C>A (p.Ser1149Arg) n.251C>A c.11622C>A (p.Ser3874Arg) c.11721C>A (p.Ser3907Arg) c.11478C>A (p.Ser3826Arg) c.11253C>A (p.Ser3751Arg) c.9252C>A (p.Ser3084Arg) c.8481C>A (p.Ser2827Arg) c.5853C>A (p.Ser1951Arg) c.4902C>A (p.Ser1634Arg) | |
| 15 | g.28141812C>A | CA391381985 | HERC2 | c.11735G>T (p.Ser3912Ile) c.3446G>T (p.Ser1149Ile) n.250G>T c.11621G>T (p.Ser3874Ile) c.11720G>T (p.Ser3907Ile) c.11477G>T (p.Ser3826Ile) c.11252G>T (p.Ser3751Ile) c.9251G>T (p.Ser3084Ile) c.8480G>T (p.Ser2827Ile) c.5852G>T (p.Ser1951Ile) c.4901G>T (p.Ser1634Ile) | |
| 15 | g.28141812C= | CA2166480109 | HERC2 | c.11735G= (p.Ser3912=) c.3446G= (p.Ser1149=) n.250G= c.11621G= (p.Ser3874=) c.11720G= (p.Ser3907=) c.11477G= (p.Ser3826=) c.11252G= (p.Ser3751=) c.9251G= (p.Ser3084=) c.8480G= (p.Ser2827=) c.5852G= (p.Ser1951=) c.4901G= (p.Ser1634=) | |
| 15 | g.28141812C>G | CA391381986 | HERC2 | c.11735G>C (p.Ser3912Thr) c.3446G>C (p.Ser1149Thr) n.250G>C c.11621G>C (p.Ser3874Thr) c.11720G>C (p.Ser3907Thr) c.11477G>C (p.Ser3826Thr) c.11252G>C (p.Ser3751Thr) c.9251G>C (p.Ser3084Thr) c.8480G>C (p.Ser2827Thr) c.5852G>C (p.Ser1951Thr) c.4901G>C (p.Ser1634Thr) | |
| 15 | g.28141812C>T | CA7440478 | HERC2 | c.11735G>A (p.Ser3912Asn) c.3446G>A (p.Ser1149Asn) n.250G>A c.11621G>A (p.Ser3874Asn) c.11720G>A (p.Ser3907Asn) c.11477G>A (p.Ser3826Asn) c.11252G>A (p.Ser3751Asn) c.9251G>A (p.Ser3084Asn) c.8480G>A (p.Ser2827Asn) c.5852G>A (p.Ser1951Asn) c.4901G>A (p.Ser1634Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141813T>A | CA391381989 | HERC2 | c.11734A>T (p.Ser3912Cys) c.3445A>T (p.Ser1149Cys) n.249A>T c.11620A>T (p.Ser3874Cys) c.11719A>T (p.Ser3907Cys) c.11476A>T (p.Ser3826Cys) c.11251A>T (p.Ser3751Cys) c.9250A>T (p.Ser3084Cys) c.8479A>T (p.Ser2827Cys) c.5851A>T (p.Ser1951Cys) c.4900A>T (p.Ser1634Cys) | |
| 15 | g.28141813T>C | CA391381988 | HERC2 | c.11734A>G (p.Ser3912Gly) c.3445A>G (p.Ser1149Gly) n.249A>G c.11620A>G (p.Ser3874Gly) c.11719A>G (p.Ser3907Gly) c.11476A>G (p.Ser3826Gly) c.11251A>G (p.Ser3751Gly) c.9250A>G (p.Ser3084Gly) c.8479A>G (p.Ser2827Gly) c.5851A>G (p.Ser1951Gly) c.4900A>G (p.Ser1634Gly) | dbSNP gnomAD v4 |
| 15 | g.28141813T>G | CA391381987 | HERC2 | c.11734A>C (p.Ser3912Arg) c.3445A>C (p.Ser1149Arg) n.249A>C c.11620A>C (p.Ser3874Arg) c.11719A>C (p.Ser3907Arg) c.11476A>C (p.Ser3826Arg) c.11251A>C (p.Ser3751Arg) c.9250A>C (p.Ser3084Arg) c.8479A>C (p.Ser2827Arg) c.5851A>C (p.Ser1951Arg) c.4900A>C (p.Ser1634Arg) | COSMIC COSMIC |
| 15 | g.28141813T= | CA2166480110 | HERC2 | c.11734A= (p.Ser3912=) c.3445A= (p.Ser1149=) n.249A= c.11620A= (p.Ser3874=) c.11719A= (p.Ser3907=) c.11476A= (p.Ser3826=) c.11251A= (p.Ser3751=) c.9250A= (p.Ser3084=) c.8479A= (p.Ser2827=) c.5851A= (p.Ser1951=) c.4900A= (p.Ser1634=) | |
| 15 | g.28141814G>A | CA489235069 | HERC2 | c.11733C>T (p.Asp3911=) c.3444C>T (p.Asp1148=) n.248C>T c.11619C>T (p.Asp3873=) c.11718C>T (p.Asp3906=) c.11475C>T (p.Asp3825=) c.11250C>T (p.Asp3750=) c.9249C>T (p.Asp3083=) c.8478C>T (p.Asp2826=) c.5850C>T (p.Asp1950=) c.4899C>T (p.Asp1633=) | gnomAD v4 |
| 15 | g.28141814G>C | CA391381990 | HERC2 | c.11733C>G (p.Asp3911Glu) c.3444C>G (p.Asp1148Glu) n.248C>G c.11619C>G (p.Asp3873Glu) c.11718C>G (p.Asp3906Glu) c.11475C>G (p.Asp3825Glu) c.11250C>G (p.Asp3750Glu) c.9249C>G (p.Asp3083Glu) c.8478C>G (p.Asp2826Glu) c.5850C>G (p.Asp1950Glu) c.4899C>G (p.Asp1633Glu) | |
| 15 | g.28141814G>T | CA391381991 | HERC2 | c.11733C>A (p.Asp3911Glu) c.3444C>A (p.Asp1148Glu) n.248C>A c.11619C>A (p.Asp3873Glu) c.11718C>A (p.Asp3906Glu) c.11475C>A (p.Asp3825Glu) c.11250C>A (p.Asp3750Glu) c.9249C>A (p.Asp3083Glu) c.8478C>A (p.Asp2826Glu) c.5850C>A (p.Asp1950Glu) c.4899C>A (p.Asp1633Glu) | |
| 15 | g.28141815T>A | CA391381992 | HERC2 | c.11732A>T (p.Asp3911Val) c.3443A>T (p.Asp1148Val) n.247A>T c.11618A>T (p.Asp3873Val) c.11717A>T (p.Asp3906Val) c.11474A>T (p.Asp3825Val) c.11249A>T (p.Asp3750Val) c.9248A>T (p.Asp3083Val) c.8477A>T (p.Asp2826Val) c.5849A>T (p.Asp1950Val) c.4898A>T (p.Asp1633Val) | |
| 15 | g.28141815T>C | CA391381993 | HERC2 | c.11732A>G (p.Asp3911Gly) c.3443A>G (p.Asp1148Gly) n.247A>G c.11618A>G (p.Asp3873Gly) c.11717A>G (p.Asp3906Gly) c.11474A>G (p.Asp3825Gly) c.11249A>G (p.Asp3750Gly) c.9248A>G (p.Asp3083Gly) c.8477A>G (p.Asp2826Gly) c.5849A>G (p.Asp1950Gly) c.4898A>G (p.Asp1633Gly) | |
| 15 | g.28141815T>G | CA391381994 | HERC2 | c.11732A>C (p.Asp3911Ala) c.3443A>C (p.Asp1148Ala) n.247A>C c.11618A>C (p.Asp3873Ala) c.11717A>C (p.Asp3906Ala) c.11474A>C (p.Asp3825Ala) c.11249A>C (p.Asp3750Ala) c.9248A>C (p.Asp3083Ala) c.8477A>C (p.Asp2826Ala) c.5849A>C (p.Asp1950Ala) c.4898A>C (p.Asp1633Ala) | gnomAD v4 |
| 15 | g.28141816C>A | CA391381995 | HERC2 | c.11731G>T (p.Asp3911Tyr) c.3442G>T (p.Asp1148Tyr) n.246G>T c.11617G>T (p.Asp3873Tyr) c.11716G>T (p.Asp3906Tyr) c.11473G>T (p.Asp3825Tyr) c.11248G>T (p.Asp3750Tyr) c.9247G>T (p.Asp3083Tyr) c.8476G>T (p.Asp2826Tyr) c.5848G>T (p.Asp1950Tyr) c.4897G>T (p.Asp1633Tyr) | |
| 15 | g.28141816C>G | CA391381996 | HERC2 | c.11731G>C (p.Asp3911His) c.3442G>C (p.Asp1148His) n.246G>C c.11617G>C (p.Asp3873His) c.11716G>C (p.Asp3906His) c.11473G>C (p.Asp3825His) c.11248G>C (p.Asp3750His) c.9247G>C (p.Asp3083His) c.8476G>C (p.Asp2826His) c.5848G>C (p.Asp1950His) c.4897G>C (p.Asp1633His) | |
| 15 | g.28141816C>T | CA391381997 | HERC2 | c.11731G>A (p.Asp3911Asn) c.3442G>A (p.Asp1148Asn) n.246G>A c.11617G>A (p.Asp3873Asn) c.11716G>A (p.Asp3906Asn) c.11473G>A (p.Asp3825Asn) c.11248G>A (p.Asp3750Asn) c.9247G>A (p.Asp3083Asn) c.8476G>A (p.Asp2826Asn) c.5848G>A (p.Asp1950Asn) c.4897G>A (p.Asp1633Asn) | gnomAD v4 |
| 15 | g.28141817T>A | CA489235072 | HERC2 | c.11730A>T (p.Ala3910=) c.3441A>T (p.Ala1147=) n.245A>T c.11616A>T (p.Ala3872=) c.11715A>T (p.Ala3905=) c.11472A>T (p.Ala3824=) c.11247A>T (p.Ala3749=) c.9246A>T (p.Ala3082=) c.8475A>T (p.Ala2825=) c.5847A>T (p.Ala1949=) c.4896A>T (p.Ala1632=) | |
| 15 | g.28141817T>C | CA489235073 | HERC2 | c.11730A>G (p.Ala3910=) c.3441A>G (p.Ala1147=) n.245A>G c.11616A>G (p.Ala3872=) c.11715A>G (p.Ala3905=) c.11472A>G (p.Ala3824=) c.11247A>G (p.Ala3749=) c.9246A>G (p.Ala3082=) c.8475A>G (p.Ala2825=) c.5847A>G (p.Ala1949=) c.4896A>G (p.Ala1632=) | gnomAD v4 |
| 15 | g.28141817T>G | CA489235075 | HERC2 | c.11730A>C (p.Ala3910=) c.3441A>C (p.Ala1147=) n.245A>C c.11616A>C (p.Ala3872=) c.11715A>C (p.Ala3905=) c.11472A>C (p.Ala3824=) c.11247A>C (p.Ala3749=) c.9246A>C (p.Ala3082=) c.8475A>C (p.Ala2825=) c.5847A>C (p.Ala1949=) c.4896A>C (p.Ala1632=) | |
| 15 | g.28141818G>A | CA391381998 | HERC2 | c.11729C>T (p.Ala3910Val) c.3440C>T (p.Ala1147Val) n.244C>T c.11615C>T (p.Ala3872Val) c.11714C>T (p.Ala3905Val) c.11471C>T (p.Ala3824Val) c.11246C>T (p.Ala3749Val) c.9245C>T (p.Ala3082Val) c.8474C>T (p.Ala2825Val) c.5846C>T (p.Ala1949Val) c.4895C>T (p.Ala1632Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141818G>C | CA391381999 | HERC2 | c.11729C>G (p.Ala3910Gly) c.3440C>G (p.Ala1147Gly) n.244C>G c.11615C>G (p.Ala3872Gly) c.11714C>G (p.Ala3905Gly) c.11471C>G (p.Ala3824Gly) c.11246C>G (p.Ala3749Gly) c.9245C>G (p.Ala3082Gly) c.8474C>G (p.Ala2825Gly) c.5846C>G (p.Ala1949Gly) c.4895C>G (p.Ala1632Gly) | |
| 15 | g.28141818G= | CA2166480111 | HERC2 | c.11729C= (p.Ala3910=) c.3440C= (p.Ala1147=) n.244C= c.11615C= (p.Ala3872=) c.11714C= (p.Ala3905=) c.11471C= (p.Ala3824=) c.11246C= (p.Ala3749=) c.9245C= (p.Ala3082=) c.8474C= (p.Ala2825=) c.5846C= (p.Ala1949=) c.4895C= (p.Ala1632=) | |
| 15 | g.28141818G>T | CA391382000 | HERC2 | c.11729C>A (p.Ala3910Glu) c.3440C>A (p.Ala1147Glu) n.244C>A c.11615C>A (p.Ala3872Glu) c.11714C>A (p.Ala3905Glu) c.11471C>A (p.Ala3824Glu) c.11246C>A (p.Ala3749Glu) c.9245C>A (p.Ala3082Glu) c.8474C>A (p.Ala2825Glu) c.5846C>A (p.Ala1949Glu) c.4895C>A (p.Ala1632Glu) | |
| 15 | g.28141819C>A | CA391382001 | HERC2 | c.11728G>T (p.Ala3910Ser) c.3439G>T (p.Ala1147Ser) n.243G>T c.11614G>T (p.Ala3872Ser) c.11713G>T (p.Ala3905Ser) c.11470G>T (p.Ala3824Ser) c.11245G>T (p.Ala3749Ser) c.9244G>T (p.Ala3082Ser) c.8473G>T (p.Ala2825Ser) c.5845G>T (p.Ala1949Ser) c.4894G>T (p.Ala1632Ser) | |
| 15 | g.28141819C= | CA2166480112 | HERC2 | c.11728G= (p.Ala3910=) c.3439G= (p.Ala1147=) n.243G= c.11614G= (p.Ala3872=) c.11713G= (p.Ala3905=) c.11470G= (p.Ala3824=) c.11245G= (p.Ala3749=) c.9244G= (p.Ala3082=) c.8473G= (p.Ala2825=) c.5845G= (p.Ala1949=) c.4894G= (p.Ala1632=) | |
| 15 | g.28141819C>G | CA7440479 | HERC2 | c.11728G>C (p.Ala3910Pro) c.3439G>C (p.Ala1147Pro) n.243G>C c.11614G>C (p.Ala3872Pro) c.11713G>C (p.Ala3905Pro) c.11470G>C (p.Ala3824Pro) c.11245G>C (p.Ala3749Pro) c.9244G>C (p.Ala3082Pro) c.8473G>C (p.Ala2825Pro) c.5845G>C (p.Ala1949Pro) c.4894G>C (p.Ala1632Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141819C>T | CA391382002 | HERC2 | c.11728G>A (p.Ala3910Thr) c.3439G>A (p.Ala1147Thr) n.243G>A c.11614G>A (p.Ala3872Thr) c.11713G>A (p.Ala3905Thr) c.11470G>A (p.Ala3824Thr) c.11245G>A (p.Ala3749Thr) c.9244G>A (p.Ala3082Thr) c.8473G>A (p.Ala2825Thr) c.5845G>A (p.Ala1949Thr) c.4894G>A (p.Ala1632Thr) | |
| 15 | g.28141820C>A | CA391382004 | HERC2 | c.11727G>T (p.Met3909Ile) c.3438G>T (p.Met1146Ile) n.242G>T c.11613G>T (p.Met3871Ile) c.11712G>T (p.Met3904Ile) c.11469G>T (p.Met3823Ile) c.11244G>T (p.Met3748Ile) c.9243G>T (p.Met3081Ile) c.8472G>T (p.Met2824Ile) c.5844G>T (p.Met1948Ile) c.4893G>T (p.Met1631Ile) | |
| 15 | g.28141820C>G | CA391382005 | HERC2 | c.11727G>C (p.Met3909Ile) c.3438G>C (p.Met1146Ile) n.242G>C c.11613G>C (p.Met3871Ile) c.11712G>C (p.Met3904Ile) c.11469G>C (p.Met3823Ile) c.11244G>C (p.Met3748Ile) c.9243G>C (p.Met3081Ile) c.8472G>C (p.Met2824Ile) c.5844G>C (p.Met1948Ile) c.4893G>C (p.Met1631Ile) | |
| 15 | g.28141820C>T | CA391382003 | HERC2 | c.11727G>A (p.Met3909Ile) c.3438G>A (p.Met1146Ile) n.242G>A c.11613G>A (p.Met3871Ile) c.11712G>A (p.Met3904Ile) c.11469G>A (p.Met3823Ile) c.11244G>A (p.Met3748Ile) c.9243G>A (p.Met3081Ile) c.8472G>A (p.Met2824Ile) c.5844G>A (p.Met1948Ile) c.4893G>A (p.Met1631Ile) | |
| 15 | g.28141821A= | CA2166480113 | HERC2 | c.11726T= (p.Met3909=) c.3437T= (p.Met1146=) n.241T= c.11612T= (p.Met3871=) c.11711T= (p.Met3904=) c.11468T= (p.Met3823=) c.11243T= (p.Met3748=) c.9242T= (p.Met3081=) c.8471T= (p.Met2824=) c.5843T= (p.Met1948=) c.4892T= (p.Met1631=) | |
| 15 | g.28141821A>C | CA391382006 | HERC2 | c.11726T>G (p.Met3909Arg) c.3437T>G (p.Met1146Arg) n.241T>G c.11612T>G (p.Met3871Arg) c.11711T>G (p.Met3904Arg) c.11468T>G (p.Met3823Arg) c.11243T>G (p.Met3748Arg) c.9242T>G (p.Met3081Arg) c.8471T>G (p.Met2824Arg) c.5843T>G (p.Met1948Arg) c.4892T>G (p.Met1631Arg) | |
| 15 | g.28141821A>G | CA7440480 | HERC2 | c.11726T>C (p.Met3909Thr) c.3437T>C (p.Met1146Thr) n.241T>C c.11612T>C (p.Met3871Thr) c.11711T>C (p.Met3904Thr) c.11468T>C (p.Met3823Thr) c.11243T>C (p.Met3748Thr) c.9242T>C (p.Met3081Thr) c.8471T>C (p.Met2824Thr) c.5843T>C (p.Met1948Thr) c.4892T>C (p.Met1631Thr) | dbSNP ExAC gnomAD v2 |
| 15 | g.28141821A>T | CA391382007 | HERC2 | c.11726T>A (p.Met3909Lys) c.3437T>A (p.Met1146Lys) n.241T>A c.11612T>A (p.Met3871Lys) c.11711T>A (p.Met3904Lys) c.11468T>A (p.Met3823Lys) c.11243T>A (p.Met3748Lys) c.9242T>A (p.Met3081Lys) c.8471T>A (p.Met2824Lys) c.5843T>A (p.Met1948Lys) c.4892T>A (p.Met1631Lys) | |
| 15 | g.28141822T>A | CA391382008 | HERC2 | c.11725A>T (p.Met3909Leu) c.3436A>T (p.Met1146Leu) n.240A>T c.11611A>T (p.Met3871Leu) c.11710A>T (p.Met3904Leu) c.11467A>T (p.Met3823Leu) c.11242A>T (p.Met3748Leu) c.9241A>T (p.Met3081Leu) c.8470A>T (p.Met2824Leu) c.5842A>T (p.Met1948Leu) c.4891A>T (p.Met1631Leu) | |
| 15 | g.28141822T>C | CA391382009 | HERC2 | c.11725A>G (p.Met3909Val) c.3436A>G (p.Met1146Val) n.240A>G c.11611A>G (p.Met3871Val) c.11710A>G (p.Met3904Val) c.11467A>G (p.Met3823Val) c.11242A>G (p.Met3748Val) c.9241A>G (p.Met3081Val) c.8470A>G (p.Met2824Val) c.5842A>G (p.Met1948Val) c.4891A>G (p.Met1631Val) | gnomAD v4 |
| 15 | g.28141822T>G | CA267946479 | HERC2 | c.11725A>C (p.Met3909Leu) c.3436A>C (p.Met1146Leu) n.240A>C c.11611A>C (p.Met3871Leu) c.11710A>C (p.Met3904Leu) c.11467A>C (p.Met3823Leu) c.11242A>C (p.Met3748Leu) c.9241A>C (p.Met3081Leu) c.8470A>C (p.Met2824Leu) c.5842A>C (p.Met1948Leu) c.4891A>C (p.Met1631Leu) | dbSNP gnomAD v4 |
| 15 | g.28141822T= | CA2166480114 | HERC2 | c.11725A= (p.Met3909=) c.3436A= (p.Met1146=) n.240A= c.11611A= (p.Met3871=) c.11710A= (p.Met3904=) c.11467A= (p.Met3823=) c.11242A= (p.Met3748=) c.9241A= (p.Met3081=) c.8470A= (p.Met2824=) c.5842A= (p.Met1948=) c.4891A= (p.Met1631=) | |
| 15 | g.28141823T>A | CA391382010 | HERC2 | c.11724A>T (p.Leu3908Phe) c.3435A>T (p.Leu1145Phe) n.239A>T c.11610A>T (p.Leu3870Phe) c.11709A>T (p.Leu3903Phe) c.11466A>T (p.Leu3822Phe) c.11241A>T (p.Leu3747Phe) c.9240A>T (p.Leu3080Phe) c.8469A>T (p.Leu2823Phe) c.5841A>T (p.Leu1947Phe) c.4890A>T (p.Leu1630Phe) | |
| 15 | g.28141823T>C | CA489235081 | HERC2 | c.11724A>G (p.Leu3908=) c.3435A>G (p.Leu1145=) n.239A>G c.11610A>G (p.Leu3870=) c.11709A>G (p.Leu3903=) c.11466A>G (p.Leu3822=) c.11241A>G (p.Leu3747=) c.9240A>G (p.Leu3080=) c.8469A>G (p.Leu2823=) c.5841A>G (p.Leu1947=) c.4890A>G (p.Leu1630=) | |
| 15 | g.28141823T>G | CA391382011 | HERC2 | c.11724A>C (p.Leu3908Phe) c.3435A>C (p.Leu1145Phe) n.239A>C c.11610A>C (p.Leu3870Phe) c.11709A>C (p.Leu3903Phe) c.11466A>C (p.Leu3822Phe) c.11241A>C (p.Leu3747Phe) c.9240A>C (p.Leu3080Phe) c.8469A>C (p.Leu2823Phe) c.5841A>C (p.Leu1947Phe) c.4890A>C (p.Leu1630Phe) | |
| 15 | g.28141824A>C | CA391382012 | HERC2 | c.11723T>G (p.Leu3908Ter) c.3434T>G (p.Leu1145Ter) n.238T>G c.11609T>G (p.Leu3870Ter) c.11708T>G (p.Leu3903Ter) c.11465T>G (p.Leu3822Ter) c.11240T>G (p.Leu3747Ter) c.9239T>G (p.Leu3080Ter) c.8468T>G (p.Leu2823Ter) c.5840T>G (p.Leu1947Ter) c.4889T>G (p.Leu1630Ter) | |
| 15 | g.28141824A>G | CA391382013 | HERC2 | c.11723T>C (p.Leu3908Ser) c.3434T>C (p.Leu1145Ser) n.238T>C c.11609T>C (p.Leu3870Ser) c.11708T>C (p.Leu3903Ser) c.11465T>C (p.Leu3822Ser) c.11240T>C (p.Leu3747Ser) c.9239T>C (p.Leu3080Ser) c.8468T>C (p.Leu2823Ser) c.5840T>C (p.Leu1947Ser) c.4889T>C (p.Leu1630Ser) | |
| 15 | g.28141824A>T | CA391382014 | HERC2 | c.11723T>A (p.Leu3908Ter) c.3434T>A (p.Leu1145Ter) n.238T>A c.11609T>A (p.Leu3870Ter) c.11708T>A (p.Leu3903Ter) c.11465T>A (p.Leu3822Ter) c.11240T>A (p.Leu3747Ter) c.9239T>A (p.Leu3080Ter) c.8468T>A (p.Leu2823Ter) c.5840T>A (p.Leu1947Ter) c.4889T>A (p.Leu1630Ter) | |
| 15 | g.28141825A>C | CA391382015 | HERC2 | c.11722T>G (p.Leu3908Val) c.3433T>G (p.Leu1145Val) n.237T>G c.11608T>G (p.Leu3870Val) c.11707T>G (p.Leu3903Val) c.11464T>G (p.Leu3822Val) c.11239T>G (p.Leu3747Val) c.9238T>G (p.Leu3080Val) c.8467T>G (p.Leu2823Val) c.5839T>G (p.Leu1947Val) c.4888T>G (p.Leu1630Val) | |
| 15 | g.28141825A>G | CA489235084 | HERC2 | c.11722T>C (p.Leu3908=) c.3433T>C (p.Leu1145=) n.237T>C c.11608T>C (p.Leu3870=) c.11707T>C (p.Leu3903=) c.11464T>C (p.Leu3822=) c.11239T>C (p.Leu3747=) c.9238T>C (p.Leu3080=) c.8467T>C (p.Leu2823=) c.5839T>C (p.Leu1947=) c.4888T>C (p.Leu1630=) | |
| 15 | g.28141825A>T | CA391382016 | HERC2 | c.11722T>A (p.Leu3908Ile) c.3433T>A (p.Leu1145Ile) n.237T>A c.11608T>A (p.Leu3870Ile) c.11707T>A (p.Leu3903Ile) c.11464T>A (p.Leu3822Ile) c.11239T>A (p.Leu3747Ile) c.9238T>A (p.Leu3080Ile) c.8467T>A (p.Leu2823Ile) c.5839T>A (p.Leu1947Ile) c.4888T>A (p.Leu1630Ile) | |
| 15 | g.28141826T>A | CA391382018 | HERC2 | c.11721A>T (p.Glu3907Asp) c.3432A>T (p.Glu1144Asp) n.236A>T c.11607A>T (p.Glu3869Asp) c.11706A>T (p.Glu3902Asp) c.11463A>T (p.Glu3821Asp) c.11238A>T (p.Glu3746Asp) c.9237A>T (p.Glu3079Asp) c.8466A>T (p.Glu2822Asp) c.5838A>T (p.Glu1946Asp) c.4887A>T (p.Glu1629Asp) | |
| 15 | g.28141826T>C | CA489235085 | HERC2 | c.11721A>G (p.Glu3907=) c.3432A>G (p.Glu1144=) n.236A>G c.11607A>G (p.Glu3869=) c.11706A>G (p.Glu3902=) c.11463A>G (p.Glu3821=) c.11238A>G (p.Glu3746=) c.9237A>G (p.Glu3079=) c.8466A>G (p.Glu2822=) c.5838A>G (p.Glu1946=) c.4887A>G (p.Glu1629=) | |
| 15 | g.28141826T>G | CA391382017 | HERC2 | c.11721A>C (p.Glu3907Asp) c.3432A>C (p.Glu1144Asp) n.236A>C c.11607A>C (p.Glu3869Asp) c.11706A>C (p.Glu3902Asp) c.11463A>C (p.Glu3821Asp) c.11238A>C (p.Glu3746Asp) c.9237A>C (p.Glu3079Asp) c.8466A>C (p.Glu2822Asp) c.5838A>C (p.Glu1946Asp) c.4887A>C (p.Glu1629Asp) | |
| 15 | g.28141827T>A | CA391382019 | HERC2 | c.11720A>T (p.Glu3907Val) c.3431A>T (p.Glu1144Val) n.235A>T c.11606A>T (p.Glu3869Val) c.11705A>T (p.Glu3902Val) c.11462A>T (p.Glu3821Val) c.11237A>T (p.Glu3746Val) c.9236A>T (p.Glu3079Val) c.8465A>T (p.Glu2822Val) c.5837A>T (p.Glu1946Val) c.4886A>T (p.Glu1629Val) | |
| 15 | g.28141827T>C | CA391382020 | HERC2 | c.11720A>G (p.Glu3907Gly) c.3431A>G (p.Glu1144Gly) n.235A>G c.11606A>G (p.Glu3869Gly) c.11705A>G (p.Glu3902Gly) c.11462A>G (p.Glu3821Gly) c.11237A>G (p.Glu3746Gly) c.9236A>G (p.Glu3079Gly) c.8465A>G (p.Glu2822Gly) c.5837A>G (p.Glu1946Gly) c.4886A>G (p.Glu1629Gly) | |
| 15 | g.28141827T>G | CA391382021 | HERC2 | c.11720A>C (p.Glu3907Ala) c.3431A>C (p.Glu1144Ala) n.235A>C c.11606A>C (p.Glu3869Ala) c.11705A>C (p.Glu3902Ala) c.11462A>C (p.Glu3821Ala) c.11237A>C (p.Glu3746Ala) c.9236A>C (p.Glu3079Ala) c.8465A>C (p.Glu2822Ala) c.5837A>C (p.Glu1946Ala) c.4886A>C (p.Glu1629Ala) | |
| 15 | g.28141828C>A | CA391382022 | HERC2 | c.11719G>T (p.Glu3907Ter) c.3430G>T (p.Glu1144Ter) n.234G>T c.11605G>T (p.Glu3869Ter) c.11704G>T (p.Glu3902Ter) c.11461G>T (p.Glu3821Ter) c.11236G>T (p.Glu3746Ter) c.9235G>T (p.Glu3079Ter) c.8464G>T (p.Glu2822Ter) c.5836G>T (p.Glu1946Ter) c.4885G>T (p.Glu1629Ter) | |
| 15 | g.28141828C= | CA2166480115 | HERC2 | c.11719G= (p.Glu3907=) c.3430G= (p.Glu1144=) n.234G= c.11605G= (p.Glu3869=) c.11704G= (p.Glu3902=) c.11461G= (p.Glu3821=) c.11236G= (p.Glu3746=) c.9235G= (p.Glu3079=) c.8464G= (p.Glu2822=) c.5836G= (p.Glu1946=) c.4885G= (p.Glu1629=) | |
| 15 | g.28141828C>G | CA391382023 | HERC2 | c.11719G>C (p.Glu3907Gln) c.3430G>C (p.Glu1144Gln) n.234G>C c.11605G>C (p.Glu3869Gln) c.11704G>C (p.Glu3902Gln) c.11461G>C (p.Glu3821Gln) c.11236G>C (p.Glu3746Gln) c.9235G>C (p.Glu3079Gln) c.8464G>C (p.Glu2822Gln) c.5836G>C (p.Glu1946Gln) c.4885G>C (p.Glu1629Gln) | |
| 15 | g.28141828C>T | CA391382024 | HERC2 | c.11719G>A (p.Glu3907Lys) c.3430G>A (p.Glu1144Lys) n.234G>A c.11605G>A (p.Glu3869Lys) c.11704G>A (p.Glu3902Lys) c.11461G>A (p.Glu3821Lys) c.11236G>A (p.Glu3746Lys) c.9235G>A (p.Glu3079Lys) c.8464G>A (p.Glu2822Lys) c.5836G>A (p.Glu1946Lys) c.4885G>A (p.Glu1629Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141829A>C | CA489235089 | HERC2 | c.11718T>G (p.Arg3906=) c.3429T>G (p.Arg1143=) n.233T>G c.11604T>G (p.Arg3868=) c.11703T>G (p.Arg3901=) c.11460T>G (p.Arg3820=) c.11235T>G (p.Arg3745=) c.9234T>G (p.Arg3078=) c.8463T>G (p.Arg2821=) c.5835T>G (p.Arg1945=) c.4884T>G (p.Arg1628=) | |
| 15 | g.28141829A>G | CA489235090 | HERC2 | c.11718T>C (p.Arg3906=) c.3429T>C (p.Arg1143=) n.233T>C c.11604T>C (p.Arg3868=) c.11703T>C (p.Arg3901=) c.11460T>C (p.Arg3820=) c.11235T>C (p.Arg3745=) c.9234T>C (p.Arg3078=) c.8463T>C (p.Arg2821=) c.5835T>C (p.Arg1945=) c.4884T>C (p.Arg1628=) | |
| 15 | g.28141829A>T | CA489235091 | HERC2 | c.11718T>A (p.Arg3906=) c.3429T>A (p.Arg1143=) n.233T>A c.11604T>A (p.Arg3868=) c.11703T>A (p.Arg3901=) c.11460T>A (p.Arg3820=) c.11235T>A (p.Arg3745=) c.9234T>A (p.Arg3078=) c.8463T>A (p.Arg2821=) c.5835T>A (p.Arg1945=) c.4884T>A (p.Arg1628=) | |
| 15 | g.28141830C>A | CA391382025 | HERC2 | c.11717G>T (p.Arg3906Leu) c.3428G>T (p.Arg1143Leu) n.232G>T c.11603G>T (p.Arg3868Leu) c.11702G>T (p.Arg3901Leu) c.11459G>T (p.Arg3820Leu) c.11234G>T (p.Arg3745Leu) c.9233G>T (p.Arg3078Leu) c.8462G>T (p.Arg2821Leu) c.5834G>T (p.Arg1945Leu) c.4883G>T (p.Arg1628Leu) | |
| 15 | g.28141830C= | CA2166480116 | HERC2 | c.11717G= (p.Arg3906=) c.3428G= (p.Arg1143=) n.232G= c.11603G= (p.Arg3868=) c.11702G= (p.Arg3901=) c.11459G= (p.Arg3820=) c.11234G= (p.Arg3745=) c.9233G= (p.Arg3078=) c.8462G= (p.Arg2821=) c.5834G= (p.Arg1945=) c.4883G= (p.Arg1628=) | |
| 15 | g.28141830C>G | CA391382026 | HERC2 | c.11717G>C (p.Arg3906Pro) c.3428G>C (p.Arg1143Pro) n.232G>C c.11603G>C (p.Arg3868Pro) c.11702G>C (p.Arg3901Pro) c.11459G>C (p.Arg3820Pro) c.11234G>C (p.Arg3745Pro) c.9233G>C (p.Arg3078Pro) c.8462G>C (p.Arg2821Pro) c.5834G>C (p.Arg1945Pro) c.4883G>C (p.Arg1628Pro) | |
| 15 | g.28141830C>T | CA7440481 | HERC2 | c.11717G>A (p.Arg3906His) c.3428G>A (p.Arg1143His) n.232G>A c.11603G>A (p.Arg3868His) c.11702G>A (p.Arg3901His) c.11459G>A (p.Arg3820His) c.11234G>A (p.Arg3745His) c.9233G>A (p.Arg3078His) c.8462G>A (p.Arg2821His) c.5834G>A (p.Arg1945His) c.4883G>A (p.Arg1628His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141831G>A | CA7440483 | HERC2 | c.11716C>T (p.Arg3906Cys) c.3427C>T (p.Arg1143Cys) n.231C>T c.11602C>T (p.Arg3868Cys) c.11701C>T (p.Arg3901Cys) c.11458C>T (p.Arg3820Cys) c.11233C>T (p.Arg3745Cys) c.9232C>T (p.Arg3078Cys) c.8461C>T (p.Arg2821Cys) c.5833C>T (p.Arg1945Cys) c.4882C>T (p.Arg1628Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.28141831G>C | CA7440482 | HERC2 | c.11716C>G (p.Arg3906Gly) c.3427C>G (p.Arg1143Gly) n.231C>G c.11602C>G (p.Arg3868Gly) c.11701C>G (p.Arg3901Gly) c.11458C>G (p.Arg3820Gly) c.11233C>G (p.Arg3745Gly) c.9232C>G (p.Arg3078Gly) c.8461C>G (p.Arg2821Gly) c.5833C>G (p.Arg1945Gly) c.4882C>G (p.Arg1628Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141831G= | CA2166480117 | HERC2 | c.11716C= (p.Arg3906=) c.3427C= (p.Arg1143=) n.231C= c.11602C= (p.Arg3868=) c.11701C= (p.Arg3901=) c.11458C= (p.Arg3820=) c.11233C= (p.Arg3745=) c.9232C= (p.Arg3078=) c.8461C= (p.Arg2821=) c.5833C= (p.Arg1945=) c.4882C= (p.Arg1628=) | |
| 15 | g.28141831G>T | CA391382027 | HERC2 | c.11716C>A (p.Arg3906Ser) c.3427C>A (p.Arg1143Ser) n.231C>A c.11602C>A (p.Arg3868Ser) c.11701C>A (p.Arg3901Ser) c.11458C>A (p.Arg3820Ser) c.11233C>A (p.Arg3745Ser) c.9232C>A (p.Arg3078Ser) c.8461C>A (p.Arg2821Ser) c.5833C>A (p.Arg1945Ser) c.4882C>A (p.Arg1628Ser) | |
| 15 | g.28141832A>C | CA391382028 | HERC2 | c.11715T>G (p.Ile3905Met) c.3426T>G (p.Ile1142Met) n.230T>G c.11601T>G (p.Ile3867Met) c.11700T>G (p.Ile3900Met) c.11457T>G (p.Ile3819Met) c.11232T>G (p.Ile3744Met) c.9231T>G (p.Ile3077Met) c.8460T>G (p.Ile2820Met) c.5832T>G (p.Ile1944Met) c.4881T>G (p.Ile1627Met) | |
| 15 | g.28141832A>G | CA489235093 | HERC2 | c.11715T>C (p.Ile3905=) c.3426T>C (p.Ile1142=) n.230T>C c.11601T>C (p.Ile3867=) c.11700T>C (p.Ile3900=) c.11457T>C (p.Ile3819=) c.11232T>C (p.Ile3744=) c.9231T>C (p.Ile3077=) c.8460T>C (p.Ile2820=) c.5832T>C (p.Ile1944=) c.4881T>C (p.Ile1627=) | |
| 15 | g.28141832A>T | CA489235094 | HERC2 | c.11715T>A (p.Ile3905=) c.3426T>A (p.Ile1142=) n.230T>A c.11601T>A (p.Ile3867=) c.11700T>A (p.Ile3900=) c.11457T>A (p.Ile3819=) c.11232T>A (p.Ile3744=) c.9231T>A (p.Ile3077=) c.8460T>A (p.Ile2820=) c.5832T>A (p.Ile1944=) c.4881T>A (p.Ile1627=) | |
| 15 | g.28141833A= | CA2166480118 | HERC2 | c.11714T= (p.Ile3905=) c.3425T= (p.Ile1142=) n.229T= c.11600T= (p.Ile3867=) c.11699T= (p.Ile3900=) c.11456T= (p.Ile3819=) c.11231T= (p.Ile3744=) c.9230T= (p.Ile3077=) c.8459T= (p.Ile2820=) c.5831T= (p.Ile1944=) c.4880T= (p.Ile1627=) | |
| 15 | g.28141833A>C | CA391382029 | HERC2 | c.11714T>G (p.Ile3905Ser) c.3425T>G (p.Ile1142Ser) n.229T>G c.11600T>G (p.Ile3867Ser) c.11699T>G (p.Ile3900Ser) c.11456T>G (p.Ile3819Ser) c.11231T>G (p.Ile3744Ser) c.9230T>G (p.Ile3077Ser) c.8459T>G (p.Ile2820Ser) c.5831T>G (p.Ile1944Ser) c.4880T>G (p.Ile1627Ser) | dbSNP gnomAD v2 |
| 15 | g.28141833A>G | CA391382031 | HERC2 | c.11714T>C (p.Ile3905Thr) c.3425T>C (p.Ile1142Thr) n.229T>C c.11600T>C (p.Ile3867Thr) c.11699T>C (p.Ile3900Thr) c.11456T>C (p.Ile3819Thr) c.11231T>C (p.Ile3744Thr) c.9230T>C (p.Ile3077Thr) c.8459T>C (p.Ile2820Thr) c.5831T>C (p.Ile1944Thr) c.4880T>C (p.Ile1627Thr) | |
| 15 | g.28141833A>T | CA391382030 | HERC2 | c.11714T>A (p.Ile3905Asn) c.3425T>A (p.Ile1142Asn) n.229T>A c.11600T>A (p.Ile3867Asn) c.11699T>A (p.Ile3900Asn) c.11456T>A (p.Ile3819Asn) c.11231T>A (p.Ile3744Asn) c.9230T>A (p.Ile3077Asn) c.8459T>A (p.Ile2820Asn) c.5831T>A (p.Ile1944Asn) c.4880T>A (p.Ile1627Asn) | |
| 15 | g.28141834T>A | CA391382032 | HERC2 | c.11713A>T (p.Ile3905Phe) c.3424A>T (p.Ile1142Phe) n.228A>T c.11599A>T (p.Ile3867Phe) c.11698A>T (p.Ile3900Phe) c.11455A>T (p.Ile3819Phe) c.11230A>T (p.Ile3744Phe) c.9229A>T (p.Ile3077Phe) c.8458A>T (p.Ile2820Phe) c.5830A>T (p.Ile1944Phe) c.4879A>T (p.Ile1627Phe) | |
| 15 | g.28141834T>C | CA391382033 | HERC2 | c.11713A>G (p.Ile3905Val) c.3424A>G (p.Ile1142Val) n.228A>G c.11599A>G (p.Ile3867Val) c.11698A>G (p.Ile3900Val) c.11455A>G (p.Ile3819Val) c.11230A>G (p.Ile3744Val) c.9229A>G (p.Ile3077Val) c.8458A>G (p.Ile2820Val) c.5830A>G (p.Ile1944Val) c.4879A>G (p.Ile1627Val) | |
| 15 | g.28141834T>G | CA391382034 | HERC2 | c.11713A>C (p.Ile3905Leu) c.3424A>C (p.Ile1142Leu) n.228A>C c.11599A>C (p.Ile3867Leu) c.11698A>C (p.Ile3900Leu) c.11455A>C (p.Ile3819Leu) c.11230A>C (p.Ile3744Leu) c.9229A>C (p.Ile3077Leu) c.8458A>C (p.Ile2820Leu) c.5830A>C (p.Ile1944Leu) c.4879A>C (p.Ile1627Leu) | |
| 15 | g.28141835T>A | CA391382035 | HERC2 | c.11712A>T (p.Lys3904Asn) c.3423A>T (p.Lys1141Asn) n.227A>T c.11598A>T (p.Lys3866Asn) c.11697A>T (p.Lys3899Asn) c.11454A>T (p.Lys3818Asn) c.11229A>T (p.Lys3743Asn) c.9228A>T (p.Lys3076Asn) c.8457A>T (p.Lys2819Asn) c.5829A>T (p.Lys1943Asn) c.4878A>T (p.Lys1626Asn) | |
| 15 | g.28141835T>C | CA7440484 | HERC2 | c.11712A>G (p.Lys3904=) c.3423A>G (p.Lys1141=) n.227A>G c.11598A>G (p.Lys3866=) c.11697A>G (p.Lys3899=) c.11454A>G (p.Lys3818=) c.11229A>G (p.Lys3743=) c.9228A>G (p.Lys3076=) c.8457A>G (p.Lys2819=) c.5829A>G (p.Lys1943=) c.4878A>G (p.Lys1626=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141835T>G | CA391382036 | HERC2 | c.11712A>C (p.Lys3904Asn) c.3423A>C (p.Lys1141Asn) n.227A>C c.11598A>C (p.Lys3866Asn) c.11697A>C (p.Lys3899Asn) c.11454A>C (p.Lys3818Asn) c.11229A>C (p.Lys3743Asn) c.9228A>C (p.Lys3076Asn) c.8457A>C (p.Lys2819Asn) c.5829A>C (p.Lys1943Asn) c.4878A>C (p.Lys1626Asn) | |
| 15 | g.28141835T= | CA2166480119 | HERC2 | c.11712A= (p.Lys3904=) c.3423A= (p.Lys1141=) n.227A= c.11598A= (p.Lys3866=) c.11697A= (p.Lys3899=) c.11454A= (p.Lys3818=) c.11229A= (p.Lys3743=) c.9228A= (p.Lys3076=) c.8457A= (p.Lys2819=) c.5829A= (p.Lys1943=) c.4878A= (p.Lys1626=) | |
| 15 | g.28141836T>A | CA391382039 | HERC2 | c.11711A>T (p.Lys3904Ile) c.3422A>T (p.Lys1141Ile) n.226A>T c.11597A>T (p.Lys3866Ile) c.11696A>T (p.Lys3899Ile) c.11453A>T (p.Lys3818Ile) c.11228A>T (p.Lys3743Ile) c.9227A>T (p.Lys3076Ile) c.8456A>T (p.Lys2819Ile) c.5828A>T (p.Lys1943Ile) c.4877A>T (p.Lys1626Ile) | |
| 15 | g.28141836T>C | CA391382037 | HERC2 | c.11711A>G (p.Lys3904Arg) c.3422A>G (p.Lys1141Arg) n.226A>G c.11597A>G (p.Lys3866Arg) c.11696A>G (p.Lys3899Arg) c.11453A>G (p.Lys3818Arg) c.11228A>G (p.Lys3743Arg) c.9227A>G (p.Lys3076Arg) c.8456A>G (p.Lys2819Arg) c.5828A>G (p.Lys1943Arg) c.4877A>G (p.Lys1626Arg) | |
| 15 | g.28141836T>G | CA391382038 | HERC2 | c.11711A>C (p.Lys3904Thr) c.3422A>C (p.Lys1141Thr) n.226A>C c.11597A>C (p.Lys3866Thr) c.11696A>C (p.Lys3899Thr) c.11453A>C (p.Lys3818Thr) c.11228A>C (p.Lys3743Thr) c.9227A>C (p.Lys3076Thr) c.8456A>C (p.Lys2819Thr) c.5828A>C (p.Lys1943Thr) c.4877A>C (p.Lys1626Thr) | |
| 15 | g.28141837T>A | CA391382040 | HERC2 | c.11710A>T (p.Lys3904Ter) c.3421A>T (p.Lys1141Ter) n.225A>T c.11596A>T (p.Lys3866Ter) c.11695A>T (p.Lys3899Ter) c.11452A>T (p.Lys3818Ter) c.11227A>T (p.Lys3743Ter) c.9226A>T (p.Lys3076Ter) c.8455A>T (p.Lys2819Ter) c.5827A>T (p.Lys1943Ter) c.4876A>T (p.Lys1626Ter) | |
| 15 | g.28141837T>C | CA391382041 | HERC2 | c.11710A>G (p.Lys3904Glu) c.3421A>G (p.Lys1141Glu) n.225A>G c.11596A>G (p.Lys3866Glu) c.11695A>G (p.Lys3899Glu) c.11452A>G (p.Lys3818Glu) c.11227A>G (p.Lys3743Glu) c.9226A>G (p.Lys3076Glu) c.8455A>G (p.Lys2819Glu) c.5827A>G (p.Lys1943Glu) c.4876A>G (p.Lys1626Glu) | |
| 15 | g.28141837T>G | CA391382042 | HERC2 | c.11710A>C (p.Lys3904Gln) c.3421A>C (p.Lys1141Gln) n.225A>C c.11596A>C (p.Lys3866Gln) c.11695A>C (p.Lys3899Gln) c.11452A>C (p.Lys3818Gln) c.11227A>C (p.Lys3743Gln) c.9226A>C (p.Lys3076Gln) c.8455A>C (p.Lys2819Gln) c.5827A>C (p.Lys1943Gln) c.4876A>C (p.Lys1626Gln) | gnomAD v4 |
| 15 | g.28141838C>A | CA391382043 | HERC2 | c.11709G>T (p.Lys3903Asn) c.3420G>T (p.Lys1140Asn) n.224G>T c.11595G>T (p.Lys3865Asn) c.11694G>T (p.Lys3898Asn) c.11451G>T (p.Lys3817Asn) c.11226G>T (p.Lys3742Asn) c.9225G>T (p.Lys3075Asn) c.8454G>T (p.Lys2818Asn) c.5826G>T (p.Lys1942Asn) c.4875G>T (p.Lys1625Asn) | |
| 15 | g.28141838C>G | CA391382044 | HERC2 | c.11709G>C (p.Lys3903Asn) c.3420G>C (p.Lys1140Asn) n.224G>C c.11595G>C (p.Lys3865Asn) c.11694G>C (p.Lys3898Asn) c.11451G>C (p.Lys3817Asn) c.11226G>C (p.Lys3742Asn) c.9225G>C (p.Lys3075Asn) c.8454G>C (p.Lys2818Asn) c.5826G>C (p.Lys1942Asn) c.4875G>C (p.Lys1625Asn) | gnomAD v4 |
| 15 | g.28141838C>T | CA488962633 | HERC2 | c.11709G>A (p.Lys3903=) c.3420G>A (p.Lys1140=) n.224G>A c.11595G>A (p.Lys3865=) c.11694G>A (p.Lys3898=) c.11451G>A (p.Lys3817=) c.11226G>A (p.Lys3742=) c.9225G>A (p.Lys3075=) c.8454G>A (p.Lys2818=) c.5826G>A (p.Lys1942=) c.4875G>A (p.Lys1625=) | gnomAD v4 |
| 15 | g.28141839T>A | CA391382047 | HERC2 | c.11708A>T (p.Lys3903Met) c.3419A>T (p.Lys1140Met) n.223A>T c.11594A>T (p.Lys3865Met) c.11693A>T (p.Lys3898Met) c.11450A>T (p.Lys3817Met) c.11225A>T (p.Lys3742Met) c.9224A>T (p.Lys3075Met) c.8453A>T (p.Lys2818Met) c.5825A>T (p.Lys1942Met) c.4874A>T (p.Lys1625Met) | |
| 15 | g.28141839T>C | CA391382045 | HERC2 | c.11708A>G (p.Lys3903Arg) c.3419A>G (p.Lys1140Arg) n.223A>G c.11594A>G (p.Lys3865Arg) c.11693A>G (p.Lys3898Arg) c.11450A>G (p.Lys3817Arg) c.11225A>G (p.Lys3742Arg) c.9224A>G (p.Lys3075Arg) c.8453A>G (p.Lys2818Arg) c.5825A>G (p.Lys1942Arg) c.4874A>G (p.Lys1625Arg) | |
| 15 | g.28141839T>G | CA391382046 | HERC2 | c.11708A>C (p.Lys3903Thr) c.3419A>C (p.Lys1140Thr) n.223A>C c.11594A>C (p.Lys3865Thr) c.11693A>C (p.Lys3898Thr) c.11450A>C (p.Lys3817Thr) c.11225A>C (p.Lys3742Thr) c.9224A>C (p.Lys3075Thr) c.8453A>C (p.Lys2818Thr) c.5825A>C (p.Lys1942Thr) c.4874A>C (p.Lys1625Thr) | |
| 15 | g.28141840T>A | CA391382048 | HERC2 | c.11707A>T (p.Lys3903Ter) c.3418A>T (p.Lys1140Ter) n.222A>T c.11593A>T (p.Lys3865Ter) c.11692A>T (p.Lys3898Ter) c.11449A>T (p.Lys3817Ter) c.11224A>T (p.Lys3742Ter) c.9223A>T (p.Lys3075Ter) c.8452A>T (p.Lys2818Ter) c.5824A>T (p.Lys1942Ter) c.4873A>T (p.Lys1625Ter) | |
| 15 | g.28141840T>C | CA391382049 | HERC2 | c.11707A>G (p.Lys3903Glu) c.3418A>G (p.Lys1140Glu) n.222A>G c.11593A>G (p.Lys3865Glu) c.11692A>G (p.Lys3898Glu) c.11449A>G (p.Lys3817Glu) c.11224A>G (p.Lys3742Glu) c.9223A>G (p.Lys3075Glu) c.8452A>G (p.Lys2818Glu) c.5824A>G (p.Lys1942Glu) c.4873A>G (p.Lys1625Glu) | |
| 15 | g.28141840T>G | CA391382050 | HERC2 | c.11707A>C (p.Lys3903Gln) c.3418A>C (p.Lys1140Gln) n.222A>C c.11593A>C (p.Lys3865Gln) c.11692A>C (p.Lys3898Gln) c.11449A>C (p.Lys3817Gln) c.11224A>C (p.Lys3742Gln) c.9223A>C (p.Lys3075Gln) c.8452A>C (p.Lys2818Gln) c.5824A>C (p.Lys1942Gln) c.4873A>C (p.Lys1625Gln) | |
| 15 | g.28141841A>C | CA488962634 | HERC2 | c.11706T>G (p.Ala3902=) c.3417T>G (p.Ala1139=) n.221T>G c.11592T>G (p.Ala3864=) c.11691T>G (p.Ala3897=) c.11448T>G (p.Ala3816=) c.11223T>G (p.Ala3741=) c.9222T>G (p.Ala3074=) c.8451T>G (p.Ala2817=) c.5823T>G (p.Ala1941=) c.4872T>G (p.Ala1624=) | |
| 15 | g.28141841A>G | CA488962635 | HERC2 | c.11706T>C (p.Ala3902=) c.3417T>C (p.Ala1139=) n.221T>C c.11592T>C (p.Ala3864=) c.11691T>C (p.Ala3897=) c.11448T>C (p.Ala3816=) c.11223T>C (p.Ala3741=) c.9222T>C (p.Ala3074=) c.8451T>C (p.Ala2817=) c.5823T>C (p.Ala1941=) c.4872T>C (p.Ala1624=) | gnomAD v4 |
| 15 | g.28141841A>T | CA488962636 | HERC2 | c.11706T>A (p.Ala3902=) c.3417T>A (p.Ala1139=) n.221T>A c.11592T>A (p.Ala3864=) c.11691T>A (p.Ala3897=) c.11448T>A (p.Ala3816=) c.11223T>A (p.Ala3741=) c.9222T>A (p.Ala3074=) c.8451T>A (p.Ala2817=) c.5823T>A (p.Ala1941=) c.4872T>A (p.Ala1624=) | gnomAD v4 |
| 15 | g.28141842G>A | CA7440485 | HERC2 | c.11705C>T (p.Ala3902Val) c.3416C>T (p.Ala1139Val) n.220C>T c.11591C>T (p.Ala3864Val) c.11690C>T (p.Ala3897Val) c.11447C>T (p.Ala3816Val) c.11222C>T (p.Ala3741Val) c.9221C>T (p.Ala3074Val) c.8450C>T (p.Ala2817Val) c.5822C>T (p.Ala1941Val) c.4871C>T (p.Ala1624Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141842G>C | CA391382051 | HERC2 | c.11705C>G (p.Ala3902Gly) c.3416C>G (p.Ala1139Gly) n.220C>G c.11591C>G (p.Ala3864Gly) c.11690C>G (p.Ala3897Gly) c.11447C>G (p.Ala3816Gly) c.11222C>G (p.Ala3741Gly) c.9221C>G (p.Ala3074Gly) c.8450C>G (p.Ala2817Gly) c.5822C>G (p.Ala1941Gly) c.4871C>G (p.Ala1624Gly) | |
| 15 | g.28141842G= | CA2166480120 | HERC2 | c.11705C= (p.Ala3902=) c.3416C= (p.Ala1139=) n.220C= c.11591C= (p.Ala3864=) c.11690C= (p.Ala3897=) c.11447C= (p.Ala3816=) c.11222C= (p.Ala3741=) c.9221C= (p.Ala3074=) c.8450C= (p.Ala2817=) c.5822C= (p.Ala1941=) c.4871C= (p.Ala1624=) | |
| 15 | g.28141842G>T | CA391382052 | HERC2 | c.11705C>A (p.Ala3902Asp) c.3416C>A (p.Ala1139Asp) n.220C>A c.11591C>A (p.Ala3864Asp) c.11690C>A (p.Ala3897Asp) c.11447C>A (p.Ala3816Asp) c.11222C>A (p.Ala3741Asp) c.9221C>A (p.Ala3074Asp) c.8450C>A (p.Ala2817Asp) c.5822C>A (p.Ala1941Asp) c.4871C>A (p.Ala1624Asp) | |
| 15 | g.28141843C>A | CA391382053 | HERC2 | c.11704G>T (p.Ala3902Ser) c.3415G>T (p.Ala1139Ser) n.219G>T c.11590G>T (p.Ala3864Ser) c.11689G>T (p.Ala3897Ser) c.11446G>T (p.Ala3816Ser) c.11221G>T (p.Ala3741Ser) c.9220G>T (p.Ala3074Ser) c.8449G>T (p.Ala2817Ser) c.5821G>T (p.Ala1941Ser) c.4870G>T (p.Ala1624Ser) | |
| 15 | g.28141843C>G | CA391382054 | HERC2 | c.11704G>C (p.Ala3902Pro) c.3415G>C (p.Ala1139Pro) n.219G>C c.11590G>C (p.Ala3864Pro) c.11689G>C (p.Ala3897Pro) c.11446G>C (p.Ala3816Pro) c.11221G>C (p.Ala3741Pro) c.9220G>C (p.Ala3074Pro) c.8449G>C (p.Ala2817Pro) c.5821G>C (p.Ala1941Pro) c.4870G>C (p.Ala1624Pro) | |
| 15 | g.28141843C>T | CA391382055 | HERC2 | c.11704G>A (p.Ala3902Thr) c.3415G>A (p.Ala1139Thr) n.219G>A c.11590G>A (p.Ala3864Thr) c.11689G>A (p.Ala3897Thr) c.11446G>A (p.Ala3816Thr) c.11221G>A (p.Ala3741Thr) c.9220G>A (p.Ala3074Thr) c.8449G>A (p.Ala2817Thr) c.5821G>A (p.Ala1941Thr) c.4870G>A (p.Ala1624Thr) | |
| 15 | g.28141844C>A | CA488962637 | HERC2 | c.11703G>T (p.Val3901=) c.3414G>T (p.Val1138=) n.218G>T c.11589G>T (p.Val3863=) c.11688G>T (p.Val3896=) c.11445G>T (p.Val3815=) c.11220G>T (p.Val3740=) c.9219G>T (p.Val3073=) c.8448G>T (p.Val2816=) c.5820G>T (p.Val1940=) c.4869G>T (p.Val1623=) | |
| 15 | g.28141844C>G | CA488962639 | HERC2 | c.11703G>C (p.Val3901=) c.3414G>C (p.Val1138=) n.218G>C c.11589G>C (p.Val3863=) c.11688G>C (p.Val3896=) c.11445G>C (p.Val3815=) c.11220G>C (p.Val3740=) c.9219G>C (p.Val3073=) c.8448G>C (p.Val2816=) c.5820G>C (p.Val1940=) c.4869G>C (p.Val1623=) | |
| 15 | g.28141844C>T | CA488962638 | HERC2 | c.11703G>A (p.Val3901=) c.3414G>A (p.Val1138=) n.218G>A c.11589G>A (p.Val3863=) c.11688G>A (p.Val3896=) c.11445G>A (p.Val3815=) c.11220G>A (p.Val3740=) c.9219G>A (p.Val3073=) c.8448G>A (p.Val2816=) c.5820G>A (p.Val1940=) c.4869G>A (p.Val1623=) | |
| 15 | g.28141845A>C | CA391382056 | HERC2 | c.11702T>G (p.Val3901Gly) c.3413T>G (p.Val1138Gly) n.217T>G c.11588T>G (p.Val3863Gly) c.11687T>G (p.Val3896Gly) c.11444T>G (p.Val3815Gly) c.11219T>G (p.Val3740Gly) c.9218T>G (p.Val3073Gly) c.8447T>G (p.Val2816Gly) c.5819T>G (p.Val1940Gly) c.4868T>G (p.Val1623Gly) | |
| 15 | g.28141845A>G | CA391382057 | HERC2 | c.11702T>C (p.Val3901Ala) c.3413T>C (p.Val1138Ala) n.217T>C c.11588T>C (p.Val3863Ala) c.11687T>C (p.Val3896Ala) c.11444T>C (p.Val3815Ala) c.11219T>C (p.Val3740Ala) c.9218T>C (p.Val3073Ala) c.8447T>C (p.Val2816Ala) c.5819T>C (p.Val1940Ala) c.4868T>C (p.Val1623Ala) | |
| 15 | g.28141845A>T | CA391382058 | HERC2 | c.11702T>A (p.Val3901Glu) c.3413T>A (p.Val1138Glu) n.217T>A c.11588T>A (p.Val3863Glu) c.11687T>A (p.Val3896Glu) c.11444T>A (p.Val3815Glu) c.11219T>A (p.Val3740Glu) c.9218T>A (p.Val3073Glu) c.8447T>A (p.Val2816Glu) c.5819T>A (p.Val1940Glu) c.4868T>A (p.Val1623Glu) | |
| 15 | g.28141846C>A | CA391382059 | HERC2 | c.11701G>T (p.Val3901Leu) c.3412G>T (p.Val1138Leu) n.216G>T c.11587G>T (p.Val3863Leu) c.11686G>T (p.Val3896Leu) c.11443G>T (p.Val3815Leu) c.11218G>T (p.Val3740Leu) c.9217G>T (p.Val3073Leu) c.8446G>T (p.Val2816Leu) c.5818G>T (p.Val1940Leu) c.4867G>T (p.Val1623Leu) | |
| 15 | g.28141846C= | CA2166480121 | HERC2 | c.11701G= (p.Val3901=) c.3412G= (p.Val1138=) n.216G= c.11587G= (p.Val3863=) c.11686G= (p.Val3896=) c.11443G= (p.Val3815=) c.11218G= (p.Val3740=) c.9217G= (p.Val3073=) c.8446G= (p.Val2816=) c.5818G= (p.Val1940=) c.4867G= (p.Val1623=) | |
| 15 | g.28141846C>G | CA391382061 | HERC2 | c.11701G>C (p.Val3901Leu) c.3412G>C (p.Val1138Leu) n.216G>C c.11587G>C (p.Val3863Leu) c.11686G>C (p.Val3896Leu) c.11443G>C (p.Val3815Leu) c.11218G>C (p.Val3740Leu) c.9217G>C (p.Val3073Leu) c.8446G>C (p.Val2816Leu) c.5818G>C (p.Val1940Leu) c.4867G>C (p.Val1623Leu) | dbSNP |
| 15 | g.28141846C>T | CA391382060 | HERC2 | c.11701G>A (p.Val3901Met) c.3412G>A (p.Val1138Met) n.216G>A c.11587G>A (p.Val3863Met) c.11686G>A (p.Val3896Met) c.11443G>A (p.Val3815Met) c.11218G>A (p.Val3740Met) c.9217G>A (p.Val3073Met) c.8446G>A (p.Val2816Met) c.5818G>A (p.Val1940Met) c.4867G>A (p.Val1623Met) | gnomAD v4 |
| 15 | g.28141847C>A | CA391382062 | HERC2 | c.11701-1G>T (n.11701-1G>T) c.3412-1G>T (n.3412-1G>T) n.216-1G>T c.11587-1G>T (n.11587-1G>T) c.11686-1G>T (n.11686-1G>T) c.11443-1G>T (n.11443-1G>T) c.11218-1G>T (n.11218-1G>T) c.9217-1G>T (n.9217-1G>T) c.8446-1G>T (n.8446-1G>T) c.5818-1G>T (n.5818-1G>T) c.4867-1G>T (n.4867-1G>T) | |
| 15 | g.28141847C= | CA2166480122 | HERC2 | c.11701-1G= (n.11701-1G=) c.3412-1G= (n.3412-1G=) n.216-1G= c.11587-1G= (n.11587-1G=) c.11686-1G= (n.11686-1G=) c.11443-1G= (n.11443-1G=) c.11218-1G= (n.11218-1G=) c.9217-1G= (n.9217-1G=) c.8446-1G= (n.8446-1G=) c.5818-1G= (n.5818-1G=) c.4867-1G= (n.4867-1G=) | |
| 15 | g.28141847C>G | CA391382063 | HERC2 | c.11701-1G>C (n.11701-1G>C) c.3412-1G>C (n.3412-1G>C) n.216-1G>C c.11587-1G>C (n.11587-1G>C) c.11686-1G>C (n.11686-1G>C) c.11443-1G>C (n.11443-1G>C) c.11218-1G>C (n.11218-1G>C) c.9217-1G>C (n.9217-1G>C) c.8446-1G>C (n.8446-1G>C) c.5818-1G>C (n.5818-1G>C) c.4867-1G>C (n.4867-1G>C) | COSMIC |
| 15 | g.28141847C>T | CA391382064 | HERC2 | c.11701-1G>A (n.11701-1G>A) c.3412-1G>A (n.3412-1G>A) n.216-1G>A c.11587-1G>A (n.11587-1G>A) c.11686-1G>A (n.11686-1G>A) c.11443-1G>A (n.11443-1G>A) c.11218-1G>A (n.11218-1G>A) c.9217-1G>A (n.9217-1G>A) c.8446-1G>A (n.8446-1G>A) c.5818-1G>A (n.5818-1G>A) c.4867-1G>A (n.4867-1G>A) | ClinVar dbSNP |
| 15 | g.28141848T>A | CA7440486 | HERC2 | c.11701-2A>T (n.11701-2A>T) c.3412-2A>T (n.3412-2A>T) n.216-2A>T c.11587-2A>T (n.11587-2A>T) c.11686-2A>T (n.11686-2A>T) c.11443-2A>T (n.11443-2A>T) c.11218-2A>T (n.11218-2A>T) c.9217-2A>T (n.9217-2A>T) c.8446-2A>T (n.8446-2A>T) c.5818-2A>T (n.5818-2A>T) c.4867-2A>T (n.4867-2A>T) | dbSNP ExAC gnomAD v4 |
| 15 | g.28141848T>C | CA391382065 | HERC2 | c.11701-2A>G (n.11701-2A>G) c.3412-2A>G (n.3412-2A>G) n.216-2A>G c.11587-2A>G (n.11587-2A>G) c.11686-2A>G (n.11686-2A>G) c.11443-2A>G (n.11443-2A>G) c.11218-2A>G (n.11218-2A>G) c.9217-2A>G (n.9217-2A>G) c.8446-2A>G (n.8446-2A>G) c.5818-2A>G (n.5818-2A>G) c.4867-2A>G (n.4867-2A>G) | |
| 15 | g.28141848T>G | CA391382066 | HERC2 | c.11701-2A>C (n.11701-2A>C) c.3412-2A>C (n.3412-2A>C) n.216-2A>C c.11587-2A>C (n.11587-2A>C) c.11686-2A>C (n.11686-2A>C) c.11443-2A>C (n.11443-2A>C) c.11218-2A>C (n.11218-2A>C) c.9217-2A>C (n.9217-2A>C) c.8446-2A>C (n.8446-2A>C) c.5818-2A>C (n.5818-2A>C) c.4867-2A>C (n.4867-2A>C) | |
| 15 | g.28141848T= | CA2166480123 | HERC2 | c.11701-2A= (n.11701-2A=) c.3412-2A= (n.3412-2A=) n.216-2A= c.11587-2A= (n.11587-2A=) c.11686-2A= (n.11686-2A=) c.11443-2A= (n.11443-2A=) c.11218-2A= (n.11218-2A=) c.9217-2A= (n.9217-2A=) c.8446-2A= (n.8446-2A=) c.5818-2A= (n.5818-2A=) c.4867-2A= (n.4867-2A=) | |
| 15 | g.28141849_28141852delinsAAAC | CA2166480124 | HERC2 | c.11701-6_11701-3delinsGTTT (n.11701-6_11701-3delinsGTTT) c.3412-6_3412-3delinsGTTT (n.3412-6_3412-3delinsGTTT) n.216-6_216-3delinsGTTT c.11587-6_11587-3delinsGTTT (n.11587-6_11587-3delinsGTTT) c.11686-6_11686-3delinsGTTT (n.11686-6_11686-3delinsGTTT) c.11443-6_11443-3delinsGTTT (n.11443-6_11443-3delinsGTTT) c.11218-6_11218-3delinsGTTT (n.11218-6_11218-3delinsGTTT) c.9217-6_9217-3delinsGTTT (n.9217-6_9217-3delinsGTTT) c.8446-6_8446-3delinsGTTT (n.8446-6_8446-3delinsGTTT) c.5818-6_5818-3delinsGTTT (n.5818-6_5818-3delinsGTTT) c.4867-6_4867-3delinsGTTT (n.4867-6_4867-3delinsGTTT) | |
| 15 | g.28141852_28141854del | CA7440487 | HERC2 | c.11701-6_11701-4del (n.11701-6_11701-4del) c.3412-6_3412-4del (n.3412-6_3412-4del) n.216-6_216-4del c.11587-6_11587-4del (n.11587-6_11587-4del) c.11686-6_11686-4del (n.11686-6_11686-4del) c.11443-6_11443-4del (n.11443-6_11443-4del) c.11218-6_11218-4del (n.11218-6_11218-4del) c.9217-6_9217-4del (n.9217-6_9217-4del) c.8446-6_8446-4del (n.8446-6_8446-4del) c.5818-6_5818-4del (n.5818-6_5818-4del) c.4867-6_4867-4del (n.4867-6_4867-4del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141850_28141851insCCCAAACACACCCAAC | CA2803510929 | HERC2 | c.11701-5_11701-4insGTTGGGTGTGTTTGGG (n.11701-5_11701-4insGTTGGGTGTGTTTGGG) c.3412-5_3412-4insGTTGGGTGTGTTTGGG (n.3412-5_3412-4insGTTGGGTGTGTTTGGG) n.216-5_216-4insGTTGGGTGTGTTTGGG c.11587-5_11587-4insGTTGGGTGTGTTTGGG (n.11587-5_11587-4insGTTGGGTGTGTTTGGG) c.11686-5_11686-4insGTTGGGTGTGTTTGGG (n.11686-5_11686-4insGTTGGGTGTGTTTGGG) c.11443-5_11443-4insGTTGGGTGTGTTTGGG (n.11443-5_11443-4insGTTGGGTGTGTTTGGG) c.11218-5_11218-4insGTTGGGTGTGTTTGGG (n.11218-5_11218-4insGTTGGGTGTGTTTGGG) c.9217-5_9217-4insGTTGGGTGTGTTTGGG (n.9217-5_9217-4insGTTGGGTGTGTTTGGG) c.8446-5_8446-4insGTTGGGTGTGTTTGGG (n.8446-5_8446-4insGTTGGGTGTGTTTGGG) c.5818-5_5818-4insGTTGGGTGTGTTTGGG (n.5818-5_5818-4insGTTGGGTGTGTTTGGG) c.4867-5_4867-4insGTTGGGTGTGTTTGGG (n.4867-5_4867-4insGTTGGGTGTGTTTGGG) | |
| 15 | g.28141850_28141851insCCAACCAAACACACCCAAC | CA2803510928 | HERC2 | c.11701-5_11701-4insGTTGGGTGTGTTTGGTTGG (n.11701-5_11701-4insGTTGGGTGTGTTTGGTTGG) c.3412-5_3412-4insGTTGGGTGTGTTTGGTTGG (n.3412-5_3412-4insGTTGGGTGTGTTTGGTTGG) n.216-5_216-4insGTTGGGTGTGTTTGGTTGG c.11587-5_11587-4insGTTGGGTGTGTTTGGTTGG (n.11587-5_11587-4insGTTGGGTGTGTTTGGTTGG) c.11686-5_11686-4insGTTGGGTGTGTTTGGTTGG (n.11686-5_11686-4insGTTGGGTGTGTTTGGTTGG) c.11443-5_11443-4insGTTGGGTGTGTTTGGTTGG (n.11443-5_11443-4insGTTGGGTGTGTTTGGTTGG) c.11218-5_11218-4insGTTGGGTGTGTTTGGTTGG (n.11218-5_11218-4insGTTGGGTGTGTTTGGTTGG) c.9217-5_9217-4insGTTGGGTGTGTTTGGTTGG (n.9217-5_9217-4insGTTGGGTGTGTTTGGTTGG) c.8446-5_8446-4insGTTGGGTGTGTTTGGTTGG (n.8446-5_8446-4insGTTGGGTGTGTTTGGTTGG) c.5818-5_5818-4insGTTGGGTGTGTTTGGTTGG (n.5818-5_5818-4insGTTGGGTGTGTTTGGTTGG) c.4867-5_4867-4insGTTGGGTGTGTTTGGTTGG (n.4867-5_4867-4insGTTGGGTGTGTTTGGTTGG) | |
| 15 | g.28141852C>A | CA7440488 | HERC2 | c.11701-6G>T (n.11701-6G>T) c.3412-6G>T (n.3412-6G>T) n.216-6G>T c.11587-6G>T (n.11587-6G>T) c.11686-6G>T (n.11686-6G>T) c.11443-6G>T (n.11443-6G>T) c.11218-6G>T (n.11218-6G>T) c.9217-6G>T (n.9217-6G>T) c.8446-6G>T (n.8446-6G>T) c.5818-6G>T (n.5818-6G>T) c.4867-6G>T (n.4867-6G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141852C= | CA2166480126 | HERC2 | c.11701-6G= (n.11701-6G=) c.3412-6G= (n.3412-6G=) n.216-6G= c.11587-6G= (n.11587-6G=) c.11686-6G= (n.11686-6G=) c.11443-6G= (n.11443-6G=) c.11218-6G= (n.11218-6G=) c.9217-6G= (n.9217-6G=) c.8446-6G= (n.8446-6G=) c.5818-6G= (n.5818-6G=) c.4867-6G= (n.4867-6G=) | |
| 15 | g.28141852C>T | CA2166480125 | HERC2 | c.11701-6G>A (n.11701-6G>A) c.3412-6G>A (n.3412-6G>A) n.216-6G>A c.11587-6G>A (n.11587-6G>A) c.11686-6G>A (n.11686-6G>A) c.11443-6G>A (n.11443-6G>A) c.11218-6G>A (n.11218-6G>A) c.9217-6G>A (n.9217-6G>A) c.8446-6G>A (n.8446-6G>A) c.5818-6G>A (n.5818-6G>A) c.4867-6G>A (n.4867-6G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141853A= | CA2166480127 | HERC2 | c.11701-7T= (n.11701-7T=) c.3412-7T= (n.3412-7T=) n.216-7T= c.11587-7T= (n.11587-7T=) c.11686-7T= (n.11686-7T=) c.11443-7T= (n.11443-7T=) c.11218-7T= (n.11218-7T=) c.9217-7T= (n.9217-7T=) c.8446-7T= (n.8446-7T=) c.5818-7T= (n.5818-7T=) c.4867-7T= (n.4867-7T=) | |
| 15 | g.28141853A>G | CA711723205 | HERC2 | c.11701-7T>C (n.11701-7T>C) c.3412-7T>C (n.3412-7T>C) n.216-7T>C c.11587-7T>C (n.11587-7T>C) c.11686-7T>C (n.11686-7T>C) c.11443-7T>C (n.11443-7T>C) c.11218-7T>C (n.11218-7T>C) c.9217-7T>C (n.9217-7T>C) c.8446-7T>C (n.8446-7T>C) c.5818-7T>C (n.5818-7T>C) c.4867-7T>C (n.4867-7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.28141856A= | CA2166480128 | HERC2 | c.11701-10T= (n.11701-10T=) c.3412-10T= (n.3412-10T=) n.216-10T= c.11587-10T= (n.11587-10T=) c.11686-10T= (n.11686-10T=) c.11443-10T= (n.11443-10T=) c.11218-10T= (n.11218-10T=) c.9217-10T= (n.9217-10T=) c.8446-10T= (n.8446-10T=) c.5818-10T= (n.5818-10T=) c.4867-10T= (n.4867-10T=) | |
| 15 | g.28141858dup | CA616712385 | HERC2 | c.11701-11dup (n.11701-11dup) c.3412-11dup (n.3412-11dup) n.216-11dup c.11587-11dup (n.11587-11dup) c.11686-11dup (n.11686-11dup) c.11443-11dup (n.11443-11dup) c.11218-11dup (n.11218-11dup) c.9217-11dup (n.9217-11dup) c.8446-11dup (n.8446-11dup) c.5818-11dup (n.5818-11dup) c.4867-11dup (n.4867-11dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141858T>A | CA2627386279 | HERC2 | c.11701-12A>T (n.11701-12A>T) c.3412-12A>T (n.3412-12A>T) n.216-12A>T c.11587-12A>T (n.11587-12A>T) c.11686-12A>T (n.11686-12A>T) c.11443-12A>T (n.11443-12A>T) c.11218-12A>T (n.11218-12A>T) c.9217-12A>T (n.9217-12A>T) c.8446-12A>T (n.8446-12A>T) c.5818-12A>T (n.5818-12A>T) c.4867-12A>T (n.4867-12A>T) | gnomAD v4 |
| 15 | g.28141861T>G | CA7440489 | HERC2 | c.11701-15A>C (n.11701-15A>C) c.3412-15A>C (n.3412-15A>C) n.216-15A>C c.11587-15A>C (n.11587-15A>C) c.11686-15A>C (n.11686-15A>C) c.11443-15A>C (n.11443-15A>C) c.11218-15A>C (n.11218-15A>C) c.9217-15A>C (n.9217-15A>C) c.8446-15A>C (n.8446-15A>C) c.5818-15A>C (n.5818-15A>C) c.4867-15A>C (n.4867-15A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141861T= | CA2166480129 | HERC2 | c.11701-15A= (n.11701-15A=) c.3412-15A= (n.3412-15A=) n.216-15A= c.11587-15A= (n.11587-15A=) c.11686-15A= (n.11686-15A=) c.11443-15A= (n.11443-15A=) c.11218-15A= (n.11218-15A=) c.9217-15A= (n.9217-15A=) c.8446-15A= (n.8446-15A=) c.5818-15A= (n.5818-15A=) c.4867-15A= (n.4867-15A=) | |
| 15 | g.28141861_28141864delinsTATG | CA2166480130 | HERC2 | c.11701-18_11701-15delinsCATA (n.11701-18_11701-15delinsCATA) c.3412-18_3412-15delinsCATA (n.3412-18_3412-15delinsCATA) n.216-18_216-15delinsCATA c.11587-18_11587-15delinsCATA (n.11587-18_11587-15delinsCATA) c.11686-18_11686-15delinsCATA (n.11686-18_11686-15delinsCATA) c.11443-18_11443-15delinsCATA (n.11443-18_11443-15delinsCATA) c.11218-18_11218-15delinsCATA (n.11218-18_11218-15delinsCATA) c.9217-18_9217-15delinsCATA (n.9217-18_9217-15delinsCATA) c.8446-18_8446-15delinsCATA (n.8446-18_8446-15delinsCATA) c.5818-18_5818-15delinsCATA (n.5818-18_5818-15delinsCATA) c.4867-18_4867-15delinsCATA (n.4867-18_4867-15delinsCATA) | |
| 15 | g.28141865_28141867del | CA616712386 | HERC2 | c.11701-18_11701-16del (n.11701-18_11701-16del) c.3412-18_3412-16del (n.3412-18_3412-16del) n.216-18_216-16del c.11587-18_11587-16del (n.11587-18_11587-16del) c.11686-18_11686-16del (n.11686-18_11686-16del) c.11443-18_11443-16del (n.11443-18_11443-16del) c.11218-18_11218-16del (n.11218-18_11218-16del) c.9217-18_9217-16del (n.9217-18_9217-16del) c.8446-18_8446-16del (n.8446-18_8446-16del) c.5818-18_5818-16del (n.5818-18_5818-16del) c.4867-18_4867-16del (n.4867-18_4867-16del) | dbSNP gnomAD v2 |
| 15 | g.28141863T>A | CA2575653896 | HERC2 | c.11701-17A>T (n.11701-17A>T) c.3412-17A>T (n.3412-17A>T) n.216-17A>T c.11587-17A>T (n.11587-17A>T) c.11686-17A>T (n.11686-17A>T) c.11443-17A>T (n.11443-17A>T) c.11218-17A>T (n.11218-17A>T) c.9217-17A>T (n.9217-17A>T) c.8446-17A>T (n.8446-17A>T) c.5818-17A>T (n.5818-17A>T) c.4867-17A>T (n.4867-17A>T) | |
| 15 | g.28141863T>C | CA2627386280 | HERC2 | c.11701-17A>G (n.11701-17A>G) c.3412-17A>G (n.3412-17A>G) n.216-17A>G c.11587-17A>G (n.11587-17A>G) c.11686-17A>G (n.11686-17A>G) c.11443-17A>G (n.11443-17A>G) c.11218-17A>G (n.11218-17A>G) c.9217-17A>G (n.9217-17A>G) c.8446-17A>G (n.8446-17A>G) c.5818-17A>G (n.5818-17A>G) c.4867-17A>G (n.4867-17A>G) | gnomAD v4 |
| 15 | g.28141864G>C | CA2627386281 | HERC2 | c.11701-18C>G (n.11701-18C>G) c.3412-18C>G (n.3412-18C>G) n.216-18C>G c.11587-18C>G (n.11587-18C>G) c.11686-18C>G (n.11686-18C>G) c.11443-18C>G (n.11443-18C>G) c.11218-18C>G (n.11218-18C>G) c.9217-18C>G (n.9217-18C>G) c.8446-18C>G (n.8446-18C>G) c.5818-18C>G (n.5818-18C>G) c.4867-18C>G (n.4867-18C>G) | gnomAD v4 |
| 15 | g.28141864G= | CA2166480131 | HERC2 | c.11701-18C= (n.11701-18C=) c.3412-18C= (n.3412-18C=) n.216-18C= c.11587-18C= (n.11587-18C=) c.11686-18C= (n.11686-18C=) c.11443-18C= (n.11443-18C=) c.11218-18C= (n.11218-18C=) c.9217-18C= (n.9217-18C=) c.8446-18C= (n.8446-18C=) c.5818-18C= (n.5818-18C=) c.4867-18C= (n.4867-18C=) | |
| 15 | g.28141864G>T | CA2166480132 | HERC2 | c.11701-18C>A (n.11701-18C>A) c.3412-18C>A (n.3412-18C>A) n.216-18C>A c.11587-18C>A (n.11587-18C>A) c.11686-18C>A (n.11686-18C>A) c.11443-18C>A (n.11443-18C>A) c.11218-18C>A (n.11218-18C>A) c.9217-18C>A (n.9217-18C>A) c.8446-18C>A (n.8446-18C>A) c.5818-18C>A (n.5818-18C>A) c.4867-18C>A (n.4867-18C>A) | dbSNP gnomAD v4 |
| 15 | g.28141866T>C | CA7440490 | HERC2 | c.11701-20A>G (n.11701-20A>G) c.3412-20A>G (n.3412-20A>G) n.216-20A>G c.11587-20A>G (n.11587-20A>G) c.11686-20A>G (n.11686-20A>G) c.11443-20A>G (n.11443-20A>G) c.11218-20A>G (n.11218-20A>G) c.9217-20A>G (n.9217-20A>G) c.8446-20A>G (n.8446-20A>G) c.5818-20A>G (n.5818-20A>G) c.4867-20A>G (n.4867-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.28141866T= | CA2166480133 | HERC2 | c.11701-20A= (n.11701-20A=) c.3412-20A= (n.3412-20A=) n.216-20A= c.11587-20A= (n.11587-20A=) c.11686-20A= (n.11686-20A=) c.11443-20A= (n.11443-20A=) c.11218-20A= (n.11218-20A=) c.9217-20A= (n.9217-20A=) c.8446-20A= (n.8446-20A=) c.5818-20A= (n.5818-20A=) c.4867-20A= (n.4867-20A=) | |
| 15 | g.28141867G>A | CA2627386282 | HERC2 | c.11701-21C>T (n.11701-21C>T) c.3412-21C>T (n.3412-21C>T) n.216-21C>T c.11587-21C>T (n.11587-21C>T) c.11686-21C>T (n.11686-21C>T) c.11443-21C>T (n.11443-21C>T) c.11218-21C>T (n.11218-21C>T) c.9217-21C>T (n.9217-21C>T) c.8446-21C>T (n.8446-21C>T) c.5818-21C>T (n.5818-21C>T) c.4867-21C>T (n.4867-21C>T) | gnomAD v4 |
| 15 | g.28141867G>T | CA2575653897 | HERC2 | c.11701-21C>A (n.11701-21C>A) c.3412-21C>A (n.3412-21C>A) n.216-21C>A c.11587-21C>A (n.11587-21C>A) c.11686-21C>A (n.11686-21C>A) c.11443-21C>A (n.11443-21C>A) c.11218-21C>A (n.11218-21C>A) c.9217-21C>A (n.9217-21C>A) c.8446-21C>A (n.8446-21C>A) c.5818-21C>A (n.5818-21C>A) c.4867-21C>A (n.4867-21C>A) | gnomAD v4 |
| 15 | g.28141868T>C | CA616712387 | HERC2 | c.11701-22A>G (n.11701-22A>G) c.3412-22A>G (n.3412-22A>G) n.216-22A>G c.11587-22A>G (n.11587-22A>G) c.11686-22A>G (n.11686-22A>G) c.11443-22A>G (n.11443-22A>G) c.11218-22A>G (n.11218-22A>G) c.9217-22A>G (n.9217-22A>G) c.8446-22A>G (n.8446-22A>G) c.5818-22A>G (n.5818-22A>G) c.4867-22A>G (n.4867-22A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141868T= | CA2166480134 | HERC2 | c.11701-22A= (n.11701-22A=) c.3412-22A= (n.3412-22A=) n.216-22A= c.11587-22A= (n.11587-22A=) c.11686-22A= (n.11686-22A=) c.11443-22A= (n.11443-22A=) c.11218-22A= (n.11218-22A=) c.9217-22A= (n.9217-22A=) c.8446-22A= (n.8446-22A=) c.5818-22A= (n.5818-22A=) c.4867-22A= (n.4867-22A=) | |
| 15 | g.28141871C>T | CA2627386283 | HERC2 | c.11701-25G>A (n.11701-25G>A) c.3412-25G>A (n.3412-25G>A) n.216-25G>A c.11587-25G>A (n.11587-25G>A) c.11686-25G>A (n.11686-25G>A) c.11443-25G>A (n.11443-25G>A) c.11218-25G>A (n.11218-25G>A) c.9217-25G>A (n.9217-25G>A) c.8446-25G>A (n.8446-25G>A) c.5818-25G>A (n.5818-25G>A) c.4867-25G>A (n.4867-25G>A) | gnomAD v4 |
| 15 | g.28141873A>T | CA2730535757 | HERC2 | c.11701-27T>A (n.11701-27T>A) c.3412-27T>A (n.3412-27T>A) n.216-27T>A c.11587-27T>A (n.11587-27T>A) c.11686-27T>A (n.11686-27T>A) c.11443-27T>A (n.11443-27T>A) c.11218-27T>A (n.11218-27T>A) c.9217-27T>A (n.9217-27T>A) c.8446-27T>A (n.8446-27T>A) c.5818-27T>A (n.5818-27T>A) c.4867-27T>A (n.4867-27T>A) | dbSNP |
| 15 | g.28141873_28141875del | CA2627386284 | HERC2 | c.11701-29_11701-27del (n.11701-29_11701-27del) c.3412-29_3412-27del (n.3412-29_3412-27del) n.216-29_216-27del c.11587-29_11587-27del (n.11587-29_11587-27del) c.11686-29_11686-27del (n.11686-29_11686-27del) c.11443-29_11443-27del (n.11443-29_11443-27del) c.11218-29_11218-27del (n.11218-29_11218-27del) c.9217-29_9217-27del (n.9217-29_9217-27del) c.8446-29_8446-27del (n.8446-29_8446-27del) c.5818-29_5818-27del (n.5818-29_5818-27del) c.4867-29_4867-27del (n.4867-29_4867-27del) | gnomAD v4 |
| 15 | g.28141876C>G | CA2627386285 | HERC2 | c.11701-30G>C (n.11701-30G>C) c.3412-30G>C (n.3412-30G>C) n.216-30G>C c.11587-30G>C (n.11587-30G>C) c.11686-30G>C (n.11686-30G>C) c.11443-30G>C (n.11443-30G>C) c.11218-30G>C (n.11218-30G>C) c.9217-30G>C (n.9217-30G>C) c.8446-30G>C (n.8446-30G>C) c.5818-30G>C (n.5818-30G>C) c.4867-30G>C (n.4867-30G>C) | gnomAD v4 |
| 15 | g.28141880C>A | CA2627386286 | HERC2 | c.11701-34G>T (n.11701-34G>T) c.3412-34G>T (n.3412-34G>T) n.216-34G>T c.11587-34G>T (n.11587-34G>T) c.11686-34G>T (n.11686-34G>T) c.11443-34G>T (n.11443-34G>T) c.11218-34G>T (n.11218-34G>T) c.9217-34G>T (n.9217-34G>T) c.8446-34G>T (n.8446-34G>T) c.5818-34G>T (n.5818-34G>T) c.4867-34G>T (n.4867-34G>T) | gnomAD v4 |
| 15 | g.28141880C>G | CA2627386287 | HERC2 | c.11701-34G>C (n.11701-34G>C) c.3412-34G>C (n.3412-34G>C) n.216-34G>C c.11587-34G>C (n.11587-34G>C) c.11686-34G>C (n.11686-34G>C) c.11443-34G>C (n.11443-34G>C) c.11218-34G>C (n.11218-34G>C) c.9217-34G>C (n.9217-34G>C) c.8446-34G>C (n.8446-34G>C) c.5818-34G>C (n.5818-34G>C) c.4867-34G>C (n.4867-34G>C) | gnomAD v4 |
| 15 | g.28141883T>C | CA2803510930 | HERC2 | c.11701-37A>G (n.11701-37A>G) c.3412-37A>G (n.3412-37A>G) n.216-37A>G c.11587-37A>G (n.11587-37A>G) c.11686-37A>G (n.11686-37A>G) c.11443-37A>G (n.11443-37A>G) c.11218-37A>G (n.11218-37A>G) c.9217-37A>G (n.9217-37A>G) c.8446-37A>G (n.8446-37A>G) c.5818-37A>G (n.5818-37A>G) c.4867-37A>G (n.4867-37A>G) | |
| 15 | g.28141884T>C | CA7440491 | HERC2 | c.11701-38A>G (n.11701-38A>G) c.3412-38A>G (n.3412-38A>G) n.216-38A>G c.11587-38A>G (n.11587-38A>G) c.11686-38A>G (n.11686-38A>G) c.11443-38A>G (n.11443-38A>G) c.11218-38A>G (n.11218-38A>G) c.9217-38A>G (n.9217-38A>G) c.8446-38A>G (n.8446-38A>G) c.5818-38A>G (n.5818-38A>G) c.4867-38A>G (n.4867-38A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28141884T= | CA2166480135 | HERC2 | c.11701-38A= (n.11701-38A=) c.3412-38A= (n.3412-38A=) n.216-38A= c.11587-38A= (n.11587-38A=) c.11686-38A= (n.11686-38A=) c.11443-38A= (n.11443-38A=) c.11218-38A= (n.11218-38A=) c.9217-38A= (n.9217-38A=) c.8446-38A= (n.8446-38A=) c.5818-38A= (n.5818-38A=) c.4867-38A= (n.4867-38A=) | |
| 15 | g.28141885A= | CA2166480136 | HERC2 | c.11701-39T= (n.11701-39T=) c.3412-39T= (n.3412-39T=) n.216-39T= c.11587-39T= (n.11587-39T=) c.11686-39T= (n.11686-39T=) c.11443-39T= (n.11443-39T=) c.11218-39T= (n.11218-39T=) c.9217-39T= (n.9217-39T=) c.8446-39T= (n.8446-39T=) c.5818-39T= (n.5818-39T=) c.4867-39T= (n.4867-39T=) | |
| 15 | g.28141885A>C | CA267946565 | HERC2 | c.11701-39T>G (n.11701-39T>G) c.3412-39T>G (n.3412-39T>G) n.216-39T>G c.11587-39T>G (n.11587-39T>G) c.11686-39T>G (n.11686-39T>G) c.11443-39T>G (n.11443-39T>G) c.11218-39T>G (n.11218-39T>G) c.9217-39T>G (n.9217-39T>G) c.8446-39T>G (n.8446-39T>G) c.5818-39T>G (n.5818-39T>G) c.4867-39T>G (n.4867-39T>G) | dbSNP |
| 15 | g.28141885_28141886insC | CA2803510931 | HERC2 | c.11701-40_11701-39insG (n.11701-40_11701-39insG) c.3412-40_3412-39insG (n.3412-40_3412-39insG) n.216-40_216-39insG c.11587-40_11587-39insG (n.11587-40_11587-39insG) c.11686-40_11686-39insG (n.11686-40_11686-39insG) c.11443-40_11443-39insG (n.11443-40_11443-39insG) c.11218-40_11218-39insG (n.11218-40_11218-39insG) c.9217-40_9217-39insG (n.9217-40_9217-39insG) c.8446-40_8446-39insG (n.8446-40_8446-39insG) c.5818-40_5818-39insG (n.5818-40_5818-39insG) c.4867-40_4867-39insG (n.4867-40_4867-39insG) | |
| 15 | g.28141886T>C | CA616712388 | HERC2 | c.11701-40A>G (n.11701-40A>G) c.3412-40A>G (n.3412-40A>G) n.216-40A>G c.11587-40A>G (n.11587-40A>G) c.11686-40A>G (n.11686-40A>G) c.11443-40A>G (n.11443-40A>G) c.11218-40A>G (n.11218-40A>G) c.9217-40A>G (n.9217-40A>G) c.8446-40A>G (n.8446-40A>G) c.5818-40A>G (n.5818-40A>G) c.4867-40A>G (n.4867-40A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.28141886T= | CA2166480137 | HERC2 | c.11701-40A= (n.11701-40A=) c.3412-40A= (n.3412-40A=) n.216-40A= c.11587-40A= (n.11587-40A=) c.11686-40A= (n.11686-40A=) c.11443-40A= (n.11443-40A=) c.11218-40A= (n.11218-40A=) c.9217-40A= (n.9217-40A=) c.8446-40A= (n.8446-40A=) c.5818-40A= (n.5818-40A=) c.4867-40A= (n.4867-40A=) |