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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.76469254T>A | CA401160893 | AANAT | c.245T>A (p.Leu82Gln) c.380T>A (p.Leu127Gln) c.359T>A (p.Leu120Gln) c.*22T>A (n.*22T>A) n.556T>A c.452T>A (p.Leu151Gln) c.335T>A (p.Leu112Gln) n.501T>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469254T>C | CA401160895 | AANAT | c.245T>C (p.Leu82Pro) c.380T>C (p.Leu127Pro) c.359T>C (p.Leu120Pro) c.*22T>C (n.*22T>C) n.556T>C c.452T>C (p.Leu151Pro) c.335T>C (p.Leu112Pro) n.501T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469254T>G | CA401160894 | AANAT | c.245T>G (p.Leu82Arg) c.380T>G (p.Leu127Arg) c.359T>G (p.Leu120Arg) c.*22T>G (n.*22T>G) n.556T>G c.452T>G (p.Leu151Arg) c.335T>G (p.Leu112Arg) n.501T>G | |
| 17 | g.76469254T= | CA2276011701 | AANAT | c.245T= (p.Leu82=) c.380T= (p.Leu127=) c.359T= (p.Leu120=) c.*22T= (n.*22T=) n.556T= c.452T= (p.Leu151=) c.335T= (p.Leu112=) n.501T= | |
| 17 | g.76469255G>A | CA501885983 | AANAT | c.246G>A (p.Leu82=) c.381G>A (p.Leu127=) c.360G>A (p.Leu120=) c.*23G>A (n.*23G>A) n.557G>A c.453G>A (p.Leu151=) c.336G>A (p.Leu112=) n.502G>A | |
| 17 | g.76469255G>C | CA501885977 | AANAT | c.246G>C (p.Leu82=) c.381G>C (p.Leu127=) c.360G>C (p.Leu120=) c.*23G>C (n.*23G>C) n.557G>C c.453G>C (p.Leu151=) c.336G>C (p.Leu112=) n.502G>C | |
| 17 | g.76469255G>T | CA501885981 | AANAT | c.246G>T (p.Leu82=) c.381G>T (p.Leu127=) c.360G>T (p.Leu120=) c.*23G>T (n.*23G>T) n.557G>T c.453G>T (p.Leu151=) c.336G>T (p.Leu112=) n.502G>T | |
| 17 | g.76469257del | CA501885978 | AANAT | c.248del (p.Gly83AlafsTer27) c.383del (p.Gly128AlafsTer27) c.362del (p.Gly121AlafsTer27) c.*25del (n.*25del) n.559del c.455del (p.Gly152AlafsTer27) c.338del (p.Gly113AlafsTer27) n.504del | gnomAD v4 |
| 17 | g.76469256G>A | CA8786525 | AANAT | c.247G>A (p.Gly83Ser) c.382G>A (p.Gly128Ser) c.361G>A (p.Gly121Ser) c.*24G>A (n.*24G>A) n.558G>A c.454G>A (p.Gly152Ser) c.337G>A (p.Gly113Ser) n.503G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469256G>C | CA401160897 | AANAT | c.247G>C (p.Gly83Arg) c.382G>C (p.Gly128Arg) c.361G>C (p.Gly121Arg) c.*24G>C (n.*24G>C) n.558G>C c.454G>C (p.Gly152Arg) c.337G>C (p.Gly113Arg) n.503G>C | |
| 17 | g.76469256G= | CA2276011702 | AANAT | c.247G= (p.Gly83=) c.382G= (p.Gly128=) c.361G= (p.Gly121=) c.*24G= (n.*24G=) n.558G= c.454G= (p.Gly152=) c.337G= (p.Gly113=) n.503G= | |
| 17 | g.76469256G>T | CA401160896 | AANAT | c.247G>T (p.Gly83Cys) c.382G>T (p.Gly128Cys) c.361G>T (p.Gly121Cys) c.*24G>T (n.*24G>T) n.558G>T c.454G>T (p.Gly152Cys) c.337G>T (p.Gly113Cys) n.503G>T | |
| 17 | g.76469257G>A | CA401160898 | AANAT | c.248G>A (p.Gly83Asp) c.383G>A (p.Gly128Asp) c.362G>A (p.Gly121Asp) c.*25G>A (n.*25G>A) n.559G>A c.455G>A (p.Gly152Asp) c.338G>A (p.Gly113Asp) n.504G>A | gnomAD v4 |
| 17 | g.76469257G>C | CA401160899 | AANAT | c.248G>C (p.Gly83Ala) c.383G>C (p.Gly128Ala) c.362G>C (p.Gly121Ala) c.*25G>C (n.*25G>C) n.559G>C c.455G>C (p.Gly152Ala) c.338G>C (p.Gly113Ala) n.504G>C | |
| 17 | g.76469257G>T | CA401160900 | AANAT | c.248G>T (p.Gly83Val) c.383G>T (p.Gly128Val) c.362G>T (p.Gly121Val) c.*25G>T (n.*25G>T) n.559G>T c.455G>T (p.Gly152Val) c.338G>T (p.Gly113Val) n.504G>T | |
| 17 | g.76469258C>A | CA501885993 | AANAT | c.249C>A (p.Gly83=) c.384C>A (p.Gly128=) c.363C>A (p.Gly121=) c.*26C>A (n.*26C>A) n.560C>A c.456C>A (p.Gly152=) c.339C>A (p.Gly113=) n.505C>A | |
| 17 | g.76469258C>G | CA501885994 | AANAT | c.249C>G (p.Gly83=) c.384C>G (p.Gly128=) c.363C>G (p.Gly121=) c.*26C>G (n.*26C>G) n.560C>G c.456C>G (p.Gly152=) c.339C>G (p.Gly113=) n.505C>G | gnomAD v4 |
| 17 | g.76469258C>T | CA501885996 | AANAT | c.249C>T (p.Gly83=) c.384C>T (p.Gly128=) c.363C>T (p.Gly121=) c.*26C>T (n.*26C>T) n.560C>T c.456C>T (p.Gly152=) c.339C>T (p.Gly113=) n.505C>T | |
| 17 | g.76469259T>A | CA401160901 | AANAT | c.250T>A (p.Trp84Arg) c.385T>A (p.Trp129Arg) c.364T>A (p.Trp122Arg) c.*27T>A (n.*27T>A) n.561T>A c.457T>A (p.Trp153Arg) c.340T>A (p.Trp114Arg) n.506T>A | |
| 17 | g.76469259T>C | CA401160902 | AANAT | c.250T>C (p.Trp84Arg) c.385T>C (p.Trp129Arg) c.364T>C (p.Trp122Arg) c.*27T>C (n.*27T>C) n.561T>C c.457T>C (p.Trp153Arg) c.340T>C (p.Trp114Arg) n.506T>C | |
| 17 | g.76469259T>G | CA401160903 | AANAT | c.250T>G (p.Trp84Gly) c.385T>G (p.Trp129Gly) c.364T>G (p.Trp122Gly) c.*27T>G (n.*27T>G) n.561T>G c.457T>G (p.Trp153Gly) c.340T>G (p.Trp114Gly) n.506T>G | |
| 17 | g.76469260G>A | CA401160906 | AANAT | c.251G>A (p.Trp84Ter) c.386G>A (p.Trp129Ter) c.365G>A (p.Trp122Ter) c.*28G>A (n.*28G>A) n.562G>A c.458G>A (p.Trp153Ter) c.341G>A (p.Trp114Ter) n.507G>A | dbSNP |
| 17 | g.76469260G>C | CA401160905 | AANAT | c.251G>C (p.Trp84Ser) c.386G>C (p.Trp129Ser) c.365G>C (p.Trp122Ser) c.*28G>C (n.*28G>C) n.562G>C c.458G>C (p.Trp153Ser) c.341G>C (p.Trp114Ser) n.507G>C | gnomAD v4 |
| 17 | g.76469260G= | CA2276011703 | AANAT | c.251G= (p.Trp84=) c.386G= (p.Trp129=) c.365G= (p.Trp122=) c.*28G= (n.*28G=) n.562G= c.458G= (p.Trp153=) c.341G= (p.Trp114=) n.507G= | |
| 17 | g.76469260G>T | CA401160904 | AANAT | c.251G>T (p.Trp84Leu) c.386G>T (p.Trp129Leu) c.365G>T (p.Trp122Leu) c.*28G>T (n.*28G>T) n.562G>T c.458G>T (p.Trp153Leu) c.341G>T (p.Trp114Leu) n.507G>T | |
| 17 | g.76469261G>A | CA401160907 | AANAT | c.252G>A (p.Trp84Ter) c.387G>A (p.Trp129Ter) c.366G>A (p.Trp122Ter) c.*29G>A (n.*29G>A) n.563G>A c.459G>A (p.Trp153Ter) c.342G>A (p.Trp114Ter) n.508G>A | |
| 17 | g.76469261G>C | CA294177735 | AANAT | c.252G>C (p.Trp84Cys) c.387G>C (p.Trp129Cys) c.366G>C (p.Trp122Cys) c.*29G>C (n.*29G>C) n.563G>C c.459G>C (p.Trp153Cys) c.342G>C (p.Trp114Cys) n.508G>C | dbSNP |
| 17 | g.76469261G= | CA2276011704 | AANAT | c.252G= (p.Trp84=) c.387G= (p.Trp129=) c.366G= (p.Trp122=) c.*29G= (n.*29G=) n.563G= c.459G= (p.Trp153=) c.342G= (p.Trp114=) n.508G= | |
| 17 | g.76469261G>T | CA401160908 | AANAT | c.252G>T (p.Trp84Cys) c.387G>T (p.Trp129Cys) c.366G>T (p.Trp122Cys) c.*29G>T (n.*29G>T) n.563G>T c.459G>T (p.Trp153Cys) c.342G>T (p.Trp114Cys) n.508G>T | |
| 17 | g.76469262T>A | CA401160909 | AANAT | c.253T>A (p.Phe85Ile) c.388T>A (p.Phe130Ile) c.367T>A (p.Phe123Ile) c.*30T>A (n.*30T>A) n.564T>A c.460T>A (p.Phe154Ile) c.343T>A (p.Phe115Ile) n.509T>A | |
| 17 | g.76469262T>C | CA401160910 | AANAT | c.253T>C (p.Phe85Leu) c.388T>C (p.Phe130Leu) c.367T>C (p.Phe123Leu) c.*30T>C (n.*30T>C) n.564T>C c.460T>C (p.Phe154Leu) c.343T>C (p.Phe115Leu) n.509T>C | |
| 17 | g.76469262T>G | CA401160911 | AANAT | c.253T>G (p.Phe85Val) c.388T>G (p.Phe130Val) c.367T>G (p.Phe123Val) c.*30T>G (n.*30T>G) n.564T>G c.460T>G (p.Phe154Val) c.343T>G (p.Phe115Val) n.509T>G | |
| 17 | g.76469263T>A | CA401160912 | AANAT | c.254T>A (p.Phe85Tyr) c.389T>A (p.Phe130Tyr) c.368T>A (p.Phe123Tyr) c.*31T>A (n.*31T>A) n.565T>A c.461T>A (p.Phe154Tyr) c.344T>A (p.Phe115Tyr) n.510T>A | |
| 17 | g.76469263T>C | CA401160914 | AANAT | c.254T>C (p.Phe85Ser) c.389T>C (p.Phe130Ser) c.368T>C (p.Phe123Ser) c.*31T>C (n.*31T>C) n.565T>C c.461T>C (p.Phe154Ser) c.344T>C (p.Phe115Ser) n.510T>C | |
| 17 | g.76469263T>G | CA401160913 | AANAT | c.254T>G (p.Phe85Cys) c.389T>G (p.Phe130Cys) c.368T>G (p.Phe123Cys) c.*31T>G (n.*31T>G) n.565T>G c.461T>G (p.Phe154Cys) c.344T>G (p.Phe115Cys) n.510T>G | |
| 17 | g.76469264C>A | CA401160915 | AANAT | c.255C>A (p.Phe85Leu) c.390C>A (p.Phe130Leu) c.369C>A (p.Phe123Leu) c.*32C>A (n.*32C>A) n.566C>A c.462C>A (p.Phe154Leu) c.345C>A (p.Phe115Leu) n.511C>A | gnomAD v4 |
| 17 | g.76469264C= | CA2276011705 | AANAT | c.255C= (p.Phe85=) c.390C= (p.Phe130=) c.369C= (p.Phe123=) c.*32C= (n.*32C=) n.566C= c.462C= (p.Phe154=) c.345C= (p.Phe115=) n.511C= | |
| 17 | g.76469264C>G | CA401160916 | AANAT | c.255C>G (p.Phe85Leu) c.390C>G (p.Phe130Leu) c.369C>G (p.Phe123Leu) c.*32C>G (n.*32C>G) n.566C>G c.462C>G (p.Phe154Leu) c.345C>G (p.Phe115Leu) n.511C>G | gnomAD v4 |
| 17 | g.76469264C>T | CA8786526 | AANAT | c.255C>T (p.Phe85=) c.390C>T (p.Phe130=) c.369C>T (p.Phe123=) c.*32C>T (n.*32C>T) n.566C>T c.462C>T (p.Phe154=) c.345C>T (p.Phe115=) n.511C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469265G>A | CA8786527 | AANAT | c.256G>A (p.Glu86Lys) c.391G>A (p.Glu131Lys) c.370G>A (p.Glu124Lys) c.*33G>A (n.*33G>A) n.567G>A c.463G>A (p.Glu155Lys) c.346G>A (p.Glu116Lys) n.512G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469265G>C | CA401160917 | AANAT | c.256G>C (p.Glu86Gln) c.391G>C (p.Glu131Gln) c.370G>C (p.Glu124Gln) c.*33G>C (n.*33G>C) n.567G>C c.463G>C (p.Glu155Gln) c.346G>C (p.Glu116Gln) n.512G>C | gnomAD v4 |
| 17 | g.76469265G= | CA2276011706 | AANAT | c.256G= (p.Glu86=) c.391G= (p.Glu131=) c.370G= (p.Glu124=) c.*33G= (n.*33G=) n.567G= c.463G= (p.Glu155=) c.346G= (p.Glu116=) n.512G= | |
| 17 | g.76469265G>T | CA401160918 | AANAT | c.256G>T (p.Glu86Ter) c.391G>T (p.Glu131Ter) c.370G>T (p.Glu124Ter) c.*33G>T (n.*33G>T) n.567G>T c.463G>T (p.Glu155Ter) c.346G>T (p.Glu116Ter) n.512G>T | COSMIC COSMIC |
| 17 | g.76469266A>C | CA401160919 | AANAT | c.257A>C (p.Glu86Ala) c.392A>C (p.Glu131Ala) c.371A>C (p.Glu124Ala) c.*34A>C (n.*34A>C) n.568A>C c.464A>C (p.Glu155Ala) c.347A>C (p.Glu116Ala) n.513A>C | |
| 17 | g.76469266A>G | CA401160920 | AANAT | c.257A>G (p.Glu86Gly) c.392A>G (p.Glu131Gly) c.371A>G (p.Glu124Gly) c.*34A>G (n.*34A>G) n.568A>G c.464A>G (p.Glu155Gly) c.347A>G (p.Glu116Gly) n.513A>G | |
| 17 | g.76469266A>T | CA401160921 | AANAT | c.257A>T (p.Glu86Val) c.392A>T (p.Glu131Val) c.371A>T (p.Glu124Val) c.*34A>T (n.*34A>T) n.568A>T c.464A>T (p.Glu155Val) c.347A>T (p.Glu116Val) n.513A>T | |
| 17 | g.76469267G>A | CA501886029 | AANAT | c.258G>A (p.Glu86=) c.393G>A (p.Glu131=) c.372G>A (p.Glu124=) c.*35G>A (n.*35G>A) n.569G>A c.465G>A (p.Glu155=) c.348G>A (p.Glu116=) n.514G>A | |
| 17 | g.76469267G>C | CA401160922 | AANAT | c.258G>C (p.Glu86Asp) c.393G>C (p.Glu131Asp) c.372G>C (p.Glu124Asp) c.*35G>C (n.*35G>C) n.569G>C c.465G>C (p.Glu155Asp) c.348G>C (p.Glu116Asp) n.514G>C | |
| 17 | g.76469267G>T | CA401160923 | AANAT | c.258G>T (p.Glu86Asp) c.393G>T (p.Glu131Asp) c.372G>T (p.Glu124Asp) c.*35G>T (n.*35G>T) n.569G>T c.465G>T (p.Glu155Asp) c.348G>T (p.Glu116Asp) n.514G>T | |
| 17 | g.76469268G>A | CA401160924 | AANAT | c.259G>A (p.Glu87Lys) c.394G>A (p.Glu132Lys) c.373G>A (p.Glu125Lys) c.*36G>A (n.*36G>A) n.570G>A c.466G>A (p.Glu156Lys) c.349G>A (p.Glu117Lys) n.515G>A | |
| 17 | g.76469268G>C | CA401160926 | AANAT | c.259G>C (p.Glu87Gln) c.394G>C (p.Glu132Gln) c.373G>C (p.Glu125Gln) c.*36G>C (n.*36G>C) n.570G>C c.466G>C (p.Glu156Gln) c.349G>C (p.Glu117Gln) n.515G>C | |
| 17 | g.76469268G>T | CA401160925 | AANAT | c.259G>T (p.Glu87Ter) c.394G>T (p.Glu132Ter) c.373G>T (p.Glu125Ter) c.*36G>T (n.*36G>T) n.570G>T c.466G>T (p.Glu156Ter) c.349G>T (p.Glu117Ter) n.515G>T | |
| 17 | g.76469269A= | CA2276011708 | AANAT | c.260A= (p.Glu87=) c.395A= (p.Glu132=) c.374A= (p.Glu125=) c.*37A= (n.*37A=) n.571A= c.467A= (p.Glu156=) c.350A= (p.Glu117=) n.516A= | |
| 17 | g.76469269A>C | CA401160927 | AANAT | c.260A>C (p.Glu87Ala) c.395A>C (p.Glu132Ala) c.374A>C (p.Glu125Ala) c.*37A>C (n.*37A>C) n.571A>C c.467A>C (p.Glu156Ala) c.350A>C (p.Glu117Ala) n.516A>C | |
| 17 | g.76469269A>G | CA401160928 | AANAT | c.260A>G (p.Glu87Gly) c.395A>G (p.Glu132Gly) c.374A>G (p.Glu125Gly) c.*37A>G (n.*37A>G) n.571A>G c.467A>G (p.Glu156Gly) c.350A>G (p.Glu117Gly) n.516A>G | |
| 17 | g.76469269A>T | CA294177739 | AANAT | c.260A>T (p.Glu87Val) c.395A>T (p.Glu132Val) c.374A>T (p.Glu125Val) c.*37A>T (n.*37A>T) n.571A>T c.467A>T (p.Glu156Val) c.350A>T (p.Glu117Val) n.516A>T | dbSNP |
| 17 | g.76469269dup | CA2550228421 | AANAT | c.260dup (p.Cys89LeufsTer?) c.395dup (p.Cys134LeufsTer?) c.374dup (p.Cys127LeufsTer?) c.*37dup (n.*37dup) n.571dup c.467dup (p.Cys158LeufsTer?) c.350dup (p.Cys119LeufsTer?) n.516dup | |
| 17 | g.76469269_76469270delinsAG | CA2276011707 | AANAT | c.260_261delinsAG (p.Glu87=) c.395_396delinsAG (p.Glu132=) c.374_375delinsAG (p.Glu125=) c.*37_*38delinsAG (n.*37_*38delinsAG) n.571_572delinsAG c.467_468delinsAG (p.Glu156=) c.350_351delinsAG (p.Glu117=) n.516_517delinsAG | |
| 17 | g.76469270G>A | CA501886042 | AANAT | c.261G>A (p.Glu87=) c.396G>A (p.Glu132=) c.375G>A (p.Glu125=) c.*38G>A (n.*38G>A) n.572G>A c.468G>A (p.Glu156=) c.351G>A (p.Glu117=) n.517G>A | |
| 17 | g.76469270G>C | CA401160929 | AANAT | c.261G>C (p.Glu87Asp) c.396G>C (p.Glu132Asp) c.375G>C (p.Glu125Asp) c.*38G>C (n.*38G>C) n.572G>C c.468G>C (p.Glu156Asp) c.351G>C (p.Glu117Asp) n.517G>C | |
| 17 | g.76469270G= | CA2276011709 | AANAT | c.261G= (p.Glu87=) c.396G= (p.Glu132=) c.375G= (p.Glu125=) c.*38G= (n.*38G=) n.572G= c.468G= (p.Glu156=) c.351G= (p.Glu117=) n.517G= | |
| 17 | g.76469270G>T | CA8786529 | AANAT | c.261G>T (p.Glu87Asp) c.396G>T (p.Glu132Asp) c.375G>T (p.Glu125Asp) c.*38G>T (n.*38G>T) n.572G>T c.468G>T (p.Glu156Asp) c.351G>T (p.Glu117Asp) n.517G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469272del | CA8786528 | AANAT | c.263del (p.Gly88AlafsTer22) c.398del (p.Gly133AlafsTer22) c.377del (p.Gly126AlafsTer22) c.*40del (n.*40del) n.574del c.470del (p.Gly157AlafsTer22) c.353del (p.Gly118AlafsTer22) n.519del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469271G>A | CA401160930 | AANAT | c.262G>A (p.Gly88Ser) c.397G>A (p.Gly133Ser) c.376G>A (p.Gly126Ser) c.*39G>A (n.*39G>A) n.573G>A c.469G>A (p.Gly157Ser) c.352G>A (p.Gly118Ser) n.518G>A | |
| 17 | g.76469271G>C | CA401160931 | AANAT | c.262G>C (p.Gly88Arg) c.397G>C (p.Gly133Arg) c.376G>C (p.Gly126Arg) c.*39G>C (n.*39G>C) n.573G>C c.469G>C (p.Gly157Arg) c.352G>C (p.Gly118Arg) n.518G>C | |
| 17 | g.76469271G= | CA2276011710 | AANAT | c.262G= (p.Gly88=) c.397G= (p.Gly133=) c.376G= (p.Gly126=) c.*39G= (n.*39G=) n.573G= c.469G= (p.Gly157=) c.352G= (p.Gly118=) n.518G= | |
| 17 | g.76469271G>T | CA401160932 | AANAT | c.262G>T (p.Gly88Cys) c.397G>T (p.Gly133Cys) c.376G>T (p.Gly126Cys) c.*39G>T (n.*39G>T) n.573G>T c.469G>T (p.Gly157Cys) c.352G>T (p.Gly118Cys) n.518G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469272G>A | CA401160933 | AANAT | c.263G>A (p.Gly88Asp) c.398G>A (p.Gly133Asp) c.377G>A (p.Gly126Asp) c.*40G>A (n.*40G>A) n.574G>A c.470G>A (p.Gly157Asp) c.353G>A (p.Gly118Asp) n.519G>A | |
| 17 | g.76469272G>C | CA294177750 | AANAT | c.263G>C (p.Gly88Ala) c.398G>C (p.Gly133Ala) c.377G>C (p.Gly126Ala) c.*40G>C (n.*40G>C) n.574G>C c.470G>C (p.Gly157Ala) c.353G>C (p.Gly118Ala) n.519G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469272G= | CA2276011711 | AANAT | c.263G= (p.Gly88=) c.398G= (p.Gly133=) c.377G= (p.Gly126=) c.*40G= (n.*40G=) n.574G= c.470G= (p.Gly157=) c.353G= (p.Gly118=) n.519G= | |
| 17 | g.76469272G>T | CA401160934 | AANAT | c.263G>T (p.Gly88Val) c.398G>T (p.Gly133Val) c.377G>T (p.Gly126Val) c.*40G>T (n.*40G>T) n.574G>T c.470G>T (p.Gly157Val) c.353G>T (p.Gly118Val) n.519G>T | |
| 17 | g.76469273C>A | CA501886051 | AANAT | c.264C>A (p.Gly88=) c.399C>A (p.Gly133=) c.378C>A (p.Gly126=) c.*41C>A (n.*41C>A) n.575C>A c.471C>A (p.Gly157=) c.354C>A (p.Gly118=) n.520C>A | dbSNP |
| 17 | g.76469273C= | CA2276011712 | AANAT | c.264C= (p.Gly88=) c.399C= (p.Gly133=) c.378C= (p.Gly126=) c.*41C= (n.*41C=) n.575C= c.471C= (p.Gly157=) c.354C= (p.Gly118=) n.520C= | |
| 17 | g.76469273C>G | CA501886053 | AANAT | c.264C>G (p.Gly88=) c.399C>G (p.Gly133=) c.378C>G (p.Gly126=) c.*41C>G (n.*41C>G) n.575C>G c.471C>G (p.Gly157=) c.354C>G (p.Gly118=) n.520C>G | |
| 17 | g.76469273C>T | CA501886055 | AANAT | c.264C>T (p.Gly88=) c.399C>T (p.Gly133=) c.378C>T (p.Gly126=) c.*41C>T (n.*41C>T) n.575C>T c.471C>T (p.Gly157=) c.354C>T (p.Gly118=) n.520C>T | |
| 17 | g.76469274del | CA2513019085 | AANAT | c.265del (p.Cys89AlafsTer21) c.400del (p.Cys134AlafsTer21) c.379del (p.Cys127AlafsTer21) c.*42del (n.*42del) n.576del c.472del (p.Cys158AlafsTer21) c.355del (p.Cys119AlafsTer21) n.521del | |
| 17 | g.76469274T>A | CA401160937 | AANAT | c.265T>A (p.Cys89Ser) c.400T>A (p.Cys134Ser) c.379T>A (p.Cys127Ser) c.*42T>A (n.*42T>A) n.576T>A c.472T>A (p.Cys158Ser) c.355T>A (p.Cys119Ser) n.521T>A | |
| 17 | g.76469274T>C | CA401160935 | AANAT | c.265T>C (p.Cys89Arg) c.400T>C (p.Cys134Arg) c.379T>C (p.Cys127Arg) c.*42T>C (n.*42T>C) n.576T>C c.472T>C (p.Cys158Arg) c.355T>C (p.Cys119Arg) n.521T>C | |
| 17 | g.76469274T>G | CA401160936 | AANAT | c.265T>G (p.Cys89Gly) c.400T>G (p.Cys134Gly) c.379T>G (p.Cys127Gly) c.*42T>G (n.*42T>G) n.576T>G c.472T>G (p.Cys158Gly) c.355T>G (p.Cys119Gly) n.521T>G | |
| 17 | g.76469275G>A | CA401160938 | AANAT | c.266G>A (p.Cys89Tyr) c.401G>A (p.Cys134Tyr) c.380G>A (p.Cys127Tyr) c.*43G>A (n.*43G>A) n.577G>A c.473G>A (p.Cys158Tyr) c.356G>A (p.Cys119Tyr) n.522G>A | gnomAD v4 |
| 17 | g.76469275G>C | CA401160939 | AANAT | c.266G>C (p.Cys89Ser) c.401G>C (p.Cys134Ser) c.380G>C (p.Cys127Ser) c.*43G>C (n.*43G>C) n.577G>C c.473G>C (p.Cys158Ser) c.356G>C (p.Cys119Ser) n.522G>C | gnomAD v4 |
| 17 | g.76469275G>T | CA401160940 | AANAT | c.266G>T (p.Cys89Phe) c.401G>T (p.Cys134Phe) c.380G>T (p.Cys127Phe) c.*43G>T (n.*43G>T) n.577G>T c.473G>T (p.Cys158Phe) c.356G>T (p.Cys119Phe) n.522G>T | |
| 17 | g.76469276C>A | CA401160941 | AANAT | c.267C>A (p.Cys89Ter) c.402C>A (p.Cys134Ter) c.381C>A (p.Cys127Ter) c.*44C>A (n.*44C>A) n.578C>A c.474C>A (p.Cys158Ter) c.357C>A (p.Cys119Ter) n.523C>A | |
| 17 | g.76469276C>G | CA401160942 | AANAT | c.267C>G (p.Cys89Trp) c.402C>G (p.Cys134Trp) c.381C>G (p.Cys127Trp) c.*44C>G (n.*44C>G) n.578C>G c.474C>G (p.Cys158Trp) c.357C>G (p.Cys119Trp) n.523C>G | |
| 17 | g.76469276C>T | CA501886064 | AANAT | c.267C>T (p.Cys89=) c.402C>T (p.Cys134=) c.381C>T (p.Cys127=) c.*44C>T (n.*44C>T) n.578C>T c.474C>T (p.Cys158=) c.357C>T (p.Cys119=) n.523C>T | dbSNP |
| 17 | g.76469277C>A | CA401160943 | AANAT | c.268C>A (p.Leu90Ile) c.403C>A (p.Leu135Ile) c.382C>A (p.Leu128Ile) c.*45C>A (n.*45C>A) n.579C>A c.475C>A (p.Leu159Ile) c.358C>A (p.Leu120Ile) n.524C>A | |
| 17 | g.76469277C>G | CA401160944 | AANAT | c.268C>G (p.Leu90Val) c.403C>G (p.Leu135Val) c.382C>G (p.Leu128Val) c.*45C>G (n.*45C>G) n.579C>G c.475C>G (p.Leu159Val) c.358C>G (p.Leu120Val) n.524C>G | |
| 17 | g.76469277C>T | CA401160945 | AANAT | c.268C>T (p.Leu90Phe) c.403C>T (p.Leu135Phe) c.382C>T (p.Leu128Phe) c.*45C>T (n.*45C>T) n.579C>T c.475C>T (p.Leu159Phe) c.358C>T (p.Leu120Phe) n.524C>T | |
| 17 | g.76469278T>A | CA401160946 | AANAT | c.269T>A (p.Leu90His) c.404T>A (p.Leu135His) c.383T>A (p.Leu128His) c.*46T>A (n.*46T>A) n.580T>A c.476T>A (p.Leu159His) c.359T>A (p.Leu120His) n.525T>A | |
| 17 | g.76469278T>C | CA401160947 | AANAT | c.269T>C (p.Leu90Pro) c.404T>C (p.Leu135Pro) c.383T>C (p.Leu128Pro) c.*46T>C (n.*46T>C) n.580T>C c.476T>C (p.Leu159Pro) c.359T>C (p.Leu120Pro) n.525T>C | gnomAD v4 |
| 17 | g.76469278T>G | CA401160948 | AANAT | c.269T>G (p.Leu90Arg) c.404T>G (p.Leu135Arg) c.383T>G (p.Leu128Arg) c.*46T>G (n.*46T>G) n.580T>G c.476T>G (p.Leu159Arg) c.359T>G (p.Leu120Arg) n.525T>G | |
| 17 | g.76469279T>A | CA501886075 | AANAT | c.270T>A (p.Leu90=) c.405T>A (p.Leu135=) c.384T>A (p.Leu128=) c.*47T>A (n.*47T>A) n.581T>A c.477T>A (p.Leu159=) c.360T>A (p.Leu120=) n.526T>A | |
| 17 | g.76469279T>C | CA8786530 | AANAT | c.270T>C (p.Leu90=) c.405T>C (p.Leu135=) c.384T>C (p.Leu128=) c.*47T>C (n.*47T>C) n.581T>C c.477T>C (p.Leu159=) c.360T>C (p.Leu120=) n.526T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469279T>G | CA501886079 | AANAT | c.270T>G (p.Leu90=) c.405T>G (p.Leu135=) c.384T>G (p.Leu128=) c.*47T>G (n.*47T>G) n.581T>G c.477T>G (p.Leu159=) c.360T>G (p.Leu120=) n.526T>G | |
| 17 | g.76469279T= | CA2276011713 | AANAT | c.270T= (p.Leu90=) c.405T= (p.Leu135=) c.384T= (p.Leu128=) c.*47T= (n.*47T=) n.581T= c.477T= (p.Leu159=) c.360T= (p.Leu120=) n.526T= | |
| 17 | g.76469280G>A | CA401160951 | AANAT | c.271G>A (p.Val91Met) c.406G>A (p.Val136Met) c.385G>A (p.Val129Met) c.*48G>A (n.*48G>A) n.582G>A c.478G>A (p.Val160Met) c.361G>A (p.Val121Met) n.527G>A | |
| 17 | g.76469280G>C | CA401160949 | AANAT | c.271G>C (p.Val91Leu) c.406G>C (p.Val136Leu) c.385G>C (p.Val129Leu) c.*48G>C (n.*48G>C) n.582G>C c.478G>C (p.Val160Leu) c.361G>C (p.Val121Leu) n.527G>C | |
| 17 | g.76469280G>T | CA401160950 | AANAT | c.271G>T (p.Val91Leu) c.406G>T (p.Val136Leu) c.385G>T (p.Val129Leu) c.*48G>T (n.*48G>T) n.582G>T c.478G>T (p.Val160Leu) c.361G>T (p.Val121Leu) n.527G>T | |
| 17 | g.76469281T>A | CA401160952 | AANAT | c.272T>A (p.Val91Glu) c.407T>A (p.Val136Glu) c.386T>A (p.Val129Glu) c.*49T>A (n.*49T>A) n.583T>A c.479T>A (p.Val160Glu) c.362T>A (p.Val121Glu) n.528T>A | COSMIC COSMIC |
| 17 | g.76469281T>C | CA401160953 | AANAT | c.272T>C (p.Val91Ala) c.407T>C (p.Val136Ala) c.386T>C (p.Val129Ala) c.*49T>C (n.*49T>C) n.583T>C c.479T>C (p.Val160Ala) c.362T>C (p.Val121Ala) n.528T>C | dbSNP gnomAD v4 |
| 17 | g.76469281T>G | CA401160954 | AANAT | c.272T>G (p.Val91Gly) c.407T>G (p.Val136Gly) c.386T>G (p.Val129Gly) c.*49T>G (n.*49T>G) n.583T>G c.479T>G (p.Val160Gly) c.362T>G (p.Val121Gly) n.528T>G | |
| 17 | g.76469281T= | CA2276011714 | AANAT | c.272T= (p.Val91=) c.407T= (p.Val136=) c.386T= (p.Val129=) c.*49T= (n.*49T=) n.583T= c.479T= (p.Val160=) c.362T= (p.Val121=) n.528T= | |
| 17 | g.76469282G>A | CA501886087 | AANAT | c.273G>A (p.Val91=) c.408G>A (p.Val136=) c.387G>A (p.Val129=) c.*50G>A (n.*50G>A) n.584G>A c.480G>A (p.Val160=) c.363G>A (p.Val121=) n.529G>A | |
| 17 | g.76469282G>C | CA501886091 | AANAT | c.273G>C (p.Val91=) c.408G>C (p.Val136=) c.387G>C (p.Val129=) c.*50G>C (n.*50G>C) n.584G>C c.480G>C (p.Val160=) c.363G>C (p.Val121=) n.529G>C | |
| 17 | g.76469282G>T | CA501886089 | AANAT | c.273G>T (p.Val91=) c.408G>T (p.Val136=) c.387G>T (p.Val129=) c.*50G>T (n.*50G>T) n.584G>T c.480G>T (p.Val160=) c.363G>T (p.Val121=) n.529G>T | |
| 17 | g.76469282_76469294delinsGGCCTTCATCATC | CA2276011715 | AANAT | c.273_285delinsGGCCTTCATCATC (p.Val91=) c.408_420delinsGGCCTTCATCATC (p.Val136=) c.387_399delinsGGCCTTCATCATC (p.Val129=) c.*50_*62delinsGGCCTTCATCATC (n.*50_*62delinsGGCCTTCATCATC) n.584_596delinsGGCCTTCATCATC c.480_492delinsGGCCTTCATCATC (p.Val160=) c.363_375delinsGGCCTTCATCATC (p.Val121=) n.529_541delinsGGCCTTCATCATC | |
| 17 | g.76469283G>A | CA401160957 | AANAT | c.274G>A (p.Ala92Thr) c.409G>A (p.Ala137Thr) c.388G>A (p.Ala130Thr) c.*51G>A (n.*51G>A) n.585G>A c.481G>A (p.Ala161Thr) c.364G>A (p.Ala122Thr) n.530G>A | dbSNP |
| 17 | g.76469283G>C | CA401160956 | AANAT | c.274G>C (p.Ala92Pro) c.409G>C (p.Ala137Pro) c.388G>C (p.Ala130Pro) c.*51G>C (n.*51G>C) n.585G>C c.481G>C (p.Ala161Pro) c.364G>C (p.Ala122Pro) n.530G>C | |
| 17 | g.76469283G= | CA2276011716 | AANAT | c.274G= (p.Ala92=) c.409G= (p.Ala137=) c.388G= (p.Ala130=) c.*51G= (n.*51G=) n.585G= c.481G= (p.Ala161=) c.364G= (p.Ala122=) n.530G= | |
| 17 | g.76469283G>T | CA401160955 | AANAT | c.274G>T (p.Ala92Ser) c.409G>T (p.Ala137Ser) c.388G>T (p.Ala130Ser) c.*51G>T (n.*51G>T) n.585G>T c.481G>T (p.Ala161Ser) c.364G>T (p.Ala122Ser) n.530G>T | |
| 17 | g.76469284_76469295del | CA986412481 | AANAT | c.275_286del (p.Ala92_Ile95del) c.410_421del (p.Ala137_Ile140del) c.389_400del (p.Ala130_Ile133del) c.*52_*63del (n.*52_*63del) n.586_597del c.482_493del (p.Ala161_Ile164del) c.365_376del (p.Ala122_Ile125del) n.531_542del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469284C>A | CA401160958 | AANAT | c.275C>A (p.Ala92Asp) c.410C>A (p.Ala137Asp) c.389C>A (p.Ala130Asp) c.*52C>A (n.*52C>A) n.586C>A c.482C>A (p.Ala161Asp) c.365C>A (p.Ala122Asp) n.531C>A | |
| 17 | g.76469284C= | CA2276011717 | AANAT | c.275C= (p.Ala92=) c.410C= (p.Ala137=) c.389C= (p.Ala130=) c.*52C= (n.*52C=) n.586C= c.482C= (p.Ala161=) c.365C= (p.Ala122=) n.531C= | |
| 17 | g.76469284C>G | CA401160959 | AANAT | c.275C>G (p.Ala92Gly) c.410C>G (p.Ala137Gly) c.389C>G (p.Ala130Gly) c.*52C>G (n.*52C>G) n.586C>G c.482C>G (p.Ala161Gly) c.365C>G (p.Ala122Gly) n.531C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469284C>T | CA401160960 | AANAT | c.275C>T (p.Ala92Val) c.410C>T (p.Ala137Val) c.389C>T (p.Ala130Val) c.*52C>T (n.*52C>T) n.586C>T c.482C>T (p.Ala161Val) c.365C>T (p.Ala122Val) n.531C>T | dbSNP gnomAD v4 |
| 17 | g.76469285C>A | CA501886105 | AANAT | c.276C>A (p.Ala92=) c.411C>A (p.Ala137=) c.390C>A (p.Ala130=) c.*53C>A (n.*53C>A) n.587C>A c.483C>A (p.Ala161=) c.366C>A (p.Ala122=) n.532C>A | |
| 17 | g.76469285C= | CA2276011718 | AANAT | c.276C= (p.Ala92=) c.411C= (p.Ala137=) c.390C= (p.Ala130=) c.*53C= (n.*53C=) n.587C= c.483C= (p.Ala161=) c.366C= (p.Ala122=) n.532C= | |
| 17 | g.76469285C>G | CA501886102 | AANAT | c.276C>G (p.Ala92=) c.411C>G (p.Ala137=) c.390C>G (p.Ala130=) c.*53C>G (n.*53C>G) n.587C>G c.483C>G (p.Ala161=) c.366C>G (p.Ala122=) n.532C>G | |
| 17 | g.76469285C>T | CA501886101 | AANAT | c.276C>T (p.Ala92=) c.411C>T (p.Ala137=) c.390C>T (p.Ala130=) c.*53C>T (n.*53C>T) n.587C>T c.483C>T (p.Ala161=) c.366C>T (p.Ala122=) n.532C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469286T>A | CA401160961 | AANAT | c.277T>A (p.Phe93Ile) c.412T>A (p.Phe138Ile) c.391T>A (p.Phe131Ile) c.*54T>A (n.*54T>A) n.588T>A c.484T>A (p.Phe162Ile) c.367T>A (p.Phe123Ile) n.533T>A | |
| 17 | g.76469286T>C | CA401160962 | AANAT | c.277T>C (p.Phe93Leu) c.412T>C (p.Phe138Leu) c.391T>C (p.Phe131Leu) c.*54T>C (n.*54T>C) n.588T>C c.484T>C (p.Phe162Leu) c.367T>C (p.Phe123Leu) n.533T>C | |
| 17 | g.76469286T>G | CA401160963 | AANAT | c.277T>G (p.Phe93Val) c.412T>G (p.Phe138Val) c.391T>G (p.Phe131Val) c.*54T>G (n.*54T>G) n.588T>G c.484T>G (p.Phe162Val) c.367T>G (p.Phe123Val) n.533T>G | |
| 17 | g.76469287T>A | CA401160966 | AANAT | c.278T>A (p.Phe93Tyr) c.413T>A (p.Phe138Tyr) c.392T>A (p.Phe131Tyr) c.*55T>A (n.*55T>A) n.589T>A c.485T>A (p.Phe162Tyr) c.368T>A (p.Phe123Tyr) n.534T>A | |
| 17 | g.76469287T>C | CA401160964 | AANAT | c.278T>C (p.Phe93Ser) c.413T>C (p.Phe138Ser) c.392T>C (p.Phe131Ser) c.*55T>C (n.*55T>C) n.589T>C c.485T>C (p.Phe162Ser) c.368T>C (p.Phe123Ser) n.534T>C | |
| 17 | g.76469287T>G | CA401160965 | AANAT | c.278T>G (p.Phe93Cys) c.413T>G (p.Phe138Cys) c.392T>G (p.Phe131Cys) c.*55T>G (n.*55T>G) n.589T>G c.485T>G (p.Phe162Cys) c.368T>G (p.Phe123Cys) n.534T>G | |
| 17 | g.76469288C>A | CA401160967 | AANAT | c.279C>A (p.Phe93Leu) c.414C>A (p.Phe138Leu) c.393C>A (p.Phe131Leu) c.*56C>A (n.*56C>A) n.590C>A c.486C>A (p.Phe162Leu) c.369C>A (p.Phe123Leu) n.535C>A | |
| 17 | g.76469288C>G | CA401160968 | AANAT | c.279C>G (p.Phe93Leu) c.414C>G (p.Phe138Leu) c.393C>G (p.Phe131Leu) c.*56C>G (n.*56C>G) n.590C>G c.486C>G (p.Phe162Leu) c.369C>G (p.Phe123Leu) n.535C>G | |
| 17 | g.76469288C>T | CA501886116 | AANAT | c.279C>T (p.Phe93=) c.414C>T (p.Phe138=) c.393C>T (p.Phe131=) c.*56C>T (n.*56C>T) n.590C>T c.486C>T (p.Phe162=) c.369C>T (p.Phe123=) n.535C>T | |
| 17 | g.76469289A= | CA2276011719 | AANAT | c.280A= (p.Ile94=) c.415A= (p.Ile139=) c.394A= (p.Ile132=) c.*57A= (n.*57A=) n.591A= c.487A= (p.Ile163=) c.370A= (p.Ile124=) n.536A= | |
| 17 | g.76469289A>C | CA401160969 | AANAT | c.280A>C (p.Ile94Leu) c.415A>C (p.Ile139Leu) c.394A>C (p.Ile132Leu) c.*57A>C (n.*57A>C) n.591A>C c.487A>C (p.Ile163Leu) c.370A>C (p.Ile124Leu) n.536A>C | |
| 17 | g.76469289A>G | CA294177751 | AANAT | c.280A>G (p.Ile94Val) c.415A>G (p.Ile139Val) c.394A>G (p.Ile132Val) c.*57A>G (n.*57A>G) n.591A>G c.487A>G (p.Ile163Val) c.370A>G (p.Ile124Val) n.536A>G | dbSNP |
| 17 | g.76469289A>T | CA401160970 | AANAT | c.280A>T (p.Ile94Phe) c.415A>T (p.Ile139Phe) c.394A>T (p.Ile132Phe) c.*57A>T (n.*57A>T) n.591A>T c.487A>T (p.Ile163Phe) c.370A>T (p.Ile124Phe) n.536A>T | |
| 17 | g.76469290T>A | CA401160971 | AANAT | c.281T>A (p.Ile94Asn) c.416T>A (p.Ile139Asn) c.395T>A (p.Ile132Asn) c.*58T>A (n.*58T>A) n.592T>A c.488T>A (p.Ile163Asn) c.371T>A (p.Ile124Asn) n.537T>A | |
| 17 | g.76469290T>C | CA401160972 | AANAT | c.281T>C (p.Ile94Thr) c.416T>C (p.Ile139Thr) c.395T>C (p.Ile132Thr) c.*58T>C (n.*58T>C) n.592T>C c.488T>C (p.Ile163Thr) c.371T>C (p.Ile124Thr) n.537T>C | gnomAD v4 |
| 17 | g.76469290T>G | CA401160973 | AANAT | c.281T>G (p.Ile94Ser) c.416T>G (p.Ile139Ser) c.395T>G (p.Ile132Ser) c.*58T>G (n.*58T>G) n.592T>G c.488T>G (p.Ile163Ser) c.371T>G (p.Ile124Ser) n.537T>G | |
| 17 | g.76469291C>A | CA501886126 | AANAT | c.282C>A (p.Ile94=) c.417C>A (p.Ile139=) c.396C>A (p.Ile132=) c.*59C>A (n.*59C>A) n.593C>A c.489C>A (p.Ile163=) c.372C>A (p.Ile124=) n.538C>A | |
| 17 | g.76469291C= | CA2276011720 | AANAT | c.282C= (p.Ile94=) c.417C= (p.Ile139=) c.396C= (p.Ile132=) c.*59C= (n.*59C=) n.593C= c.489C= (p.Ile163=) c.372C= (p.Ile124=) n.538C= | |
| 17 | g.76469291C>G | CA8786531 | AANAT | c.282C>G (p.Ile94Met) c.417C>G (p.Ile139Met) c.396C>G (p.Ile132Met) c.*59C>G (n.*59C>G) n.593C>G c.489C>G (p.Ile163Met) c.372C>G (p.Ile124Met) n.538C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469291C>T | CA501886130 | AANAT | c.282C>T (p.Ile94=) c.417C>T (p.Ile139=) c.396C>T (p.Ile132=) c.*59C>T (n.*59C>T) n.593C>T c.489C>T (p.Ile163=) c.372C>T (p.Ile124=) n.538C>T | |
| 17 | g.76469292A= | CA2276011721 | AANAT | c.283A= (p.Ile95=) c.418A= (p.Ile140=) c.397A= (p.Ile133=) c.*60A= (n.*60A=) n.594A= c.490A= (p.Ile164=) c.373A= (p.Ile125=) n.539A= | |
| 17 | g.76469292A>C | CA401160974 | AANAT | c.283A>C (p.Ile95Leu) c.418A>C (p.Ile140Leu) c.397A>C (p.Ile133Leu) c.*60A>C (n.*60A>C) n.594A>C c.490A>C (p.Ile164Leu) c.373A>C (p.Ile125Leu) n.539A>C | |
| 17 | g.76469292A>G | CA8786532 | AANAT | c.283A>G (p.Ile95Val) c.418A>G (p.Ile140Val) c.397A>G (p.Ile133Val) c.*60A>G (n.*60A>G) n.594A>G c.490A>G (p.Ile164Val) c.373A>G (p.Ile125Val) n.539A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469292A>T | CA401160975 | AANAT | c.283A>T (p.Ile95Phe) c.418A>T (p.Ile140Phe) c.397A>T (p.Ile133Phe) c.*60A>T (n.*60A>T) n.594A>T c.490A>T (p.Ile164Phe) c.373A>T (p.Ile125Phe) n.539A>T | gnomAD v4 |
| 17 | g.76469293T>A | CA401160976 | AANAT | c.284T>A (p.Ile95Asn) c.419T>A (p.Ile140Asn) c.398T>A (p.Ile133Asn) c.*61T>A (n.*61T>A) n.595T>A c.491T>A (p.Ile164Asn) c.374T>A (p.Ile125Asn) n.540T>A | |
| 17 | g.76469293T>C | CA401160978 | AANAT | c.284T>C (p.Ile95Thr) c.419T>C (p.Ile140Thr) c.398T>C (p.Ile133Thr) c.*61T>C (n.*61T>C) n.595T>C c.491T>C (p.Ile164Thr) c.374T>C (p.Ile125Thr) n.540T>C | |
| 17 | g.76469293T>G | CA401160977 | AANAT | c.284T>G (p.Ile95Ser) c.419T>G (p.Ile140Ser) c.398T>G (p.Ile133Ser) c.*61T>G (n.*61T>G) n.595T>G c.491T>G (p.Ile164Ser) c.374T>G (p.Ile125Ser) n.540T>G | |
| 17 | g.76469294C>A | CA501886140 | AANAT | c.285C>A (p.Ile95=) c.420C>A (p.Ile140=) c.399C>A (p.Ile133=) c.*62C>A (n.*62C>A) n.596C>A c.492C>A (p.Ile164=) c.375C>A (p.Ile125=) n.541C>A | |
| 17 | g.76469294C= | CA2276011722 | AANAT | c.285C= (p.Ile95=) c.420C= (p.Ile140=) c.399C= (p.Ile133=) c.*62C= (n.*62C=) n.596C= c.492C= (p.Ile164=) c.375C= (p.Ile125=) n.541C= | |
| 17 | g.76469294C>G | CA8786534 | AANAT | c.285C>G (p.Ile95Met) c.420C>G (p.Ile140Met) c.399C>G (p.Ile133Met) c.*62C>G (n.*62C>G) n.596C>G c.492C>G (p.Ile164Met) c.375C>G (p.Ile125Met) n.541C>G | dbSNP ExAC gnomAD v2 |
| 17 | g.76469294C>T | CA8786533 | AANAT | c.285C>T (p.Ile95=) c.420C>T (p.Ile140=) c.399C>T (p.Ile133=) c.*62C>T (n.*62C>T) n.596C>T c.492C>T (p.Ile164=) c.375C>T (p.Ile125=) n.541C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469295G>A | CA294177774 | AANAT | c.286G>A (p.Gly96Ser) c.421G>A (p.Gly141Ser) c.400G>A (p.Gly134Ser) c.*63G>A (n.*63G>A) n.597G>A c.493G>A (p.Gly165Ser) c.376G>A (p.Gly126Ser) n.542G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469295G>C | CA401160979 | AANAT | c.286G>C (p.Gly96Arg) c.421G>C (p.Gly141Arg) c.400G>C (p.Gly134Arg) c.*63G>C (n.*63G>C) n.597G>C c.493G>C (p.Gly165Arg) c.376G>C (p.Gly126Arg) n.542G>C | gnomAD v4 |
| 17 | g.76469295G= | CA2276011723 | AANAT | c.286G= (p.Gly96=) c.421G= (p.Gly141=) c.400G= (p.Gly134=) c.*63G= (n.*63G=) n.597G= c.493G= (p.Gly165=) c.376G= (p.Gly126=) n.542G= | |
| 17 | g.76469295G>T | CA8786535 | AANAT | c.286G>T (p.Gly96Cys) c.421G>T (p.Gly141Cys) c.400G>T (p.Gly134Cys) c.*63G>T (n.*63G>T) n.597G>T c.493G>T (p.Gly165Cys) c.376G>T (p.Gly126Cys) n.542G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469296G>A | CA401160980 | AANAT | c.287G>A (p.Gly96Asp) c.422G>A (p.Gly141Asp) c.401G>A (p.Gly134Asp) c.*64G>A (n.*64G>A) n.598G>A c.494G>A (p.Gly165Asp) c.377G>A (p.Gly126Asp) n.543G>A | |
| 17 | g.76469296G>C | CA401160981 | AANAT | c.287G>C (p.Gly96Ala) c.422G>C (p.Gly141Ala) c.401G>C (p.Gly134Ala) c.*64G>C (n.*64G>C) n.598G>C c.494G>C (p.Gly165Ala) c.377G>C (p.Gly126Ala) n.543G>C | |
| 17 | g.76469296G>T | CA401160982 | AANAT | c.287G>T (p.Gly96Val) c.422G>T (p.Gly141Val) c.401G>T (p.Gly134Val) c.*64G>T (n.*64G>T) n.598G>T c.494G>T (p.Gly165Val) c.377G>T (p.Gly126Val) n.543G>T | |
| 17 | g.76469297C>A | CA501886151 | AANAT | c.288C>A (p.Gly96=) c.423C>A (p.Gly141=) c.402C>A (p.Gly134=) c.*65C>A (n.*65C>A) n.599C>A c.495C>A (p.Gly165=) c.378C>A (p.Gly126=) n.544C>A | |
| 17 | g.76469297C>G | CA501886153 | AANAT | c.288C>G (p.Gly96=) c.423C>G (p.Gly141=) c.402C>G (p.Gly134=) c.*65C>G (n.*65C>G) n.599C>G c.495C>G (p.Gly165=) c.378C>G (p.Gly126=) n.544C>G | |
| 17 | g.76469297C>T | CA501886155 | AANAT | c.288C>T (p.Gly96=) c.423C>T (p.Gly141=) c.402C>T (p.Gly134=) c.*65C>T (n.*65C>T) n.599C>T c.495C>T (p.Gly165=) c.378C>T (p.Gly126=) n.544C>T | |
| 17 | g.76469298T>A | CA401160983 | AANAT | c.289T>A (p.Ser97Thr) c.424T>A (p.Ser142Thr) c.403T>A (p.Ser135Thr) c.*66T>A (n.*66T>A) n.600T>A c.496T>A (p.Ser166Thr) c.379T>A (p.Ser127Thr) n.545T>A | |
| 17 | g.76469298T>C | CA401160984 | AANAT | c.289T>C (p.Ser97Pro) c.424T>C (p.Ser142Pro) c.403T>C (p.Ser135Pro) c.*66T>C (n.*66T>C) n.600T>C c.496T>C (p.Ser166Pro) c.379T>C (p.Ser127Pro) n.545T>C | |
| 17 | g.76469298T>G | CA401160985 | AANAT | c.289T>G (p.Ser97Ala) c.424T>G (p.Ser142Ala) c.403T>G (p.Ser135Ala) c.*66T>G (n.*66T>G) n.600T>G c.496T>G (p.Ser166Ala) c.379T>G (p.Ser127Ala) n.545T>G | |
| 17 | g.76469299C>A | CA401160986 | AANAT | c.290C>A (p.Ser97Ter) c.425C>A (p.Ser142Ter) c.404C>A (p.Ser135Ter) c.*67C>A (n.*67C>A) n.601C>A c.497C>A (p.Ser166Ter) c.380C>A (p.Ser127Ter) n.546C>A | dbSNP gnomAD v2 |
| 17 | g.76469299C= | CA2276011724 | AANAT | c.290C= (p.Ser97=) c.425C= (p.Ser142=) c.404C= (p.Ser135=) c.*67C= (n.*67C=) n.601C= c.497C= (p.Ser166=) c.380C= (p.Ser127=) n.546C= | |
| 17 | g.76469299C>G | CA8786537 | AANAT | c.290C>G (p.Ser97Trp) c.425C>G (p.Ser142Trp) c.404C>G (p.Ser135Trp) c.*67C>G (n.*67C>G) n.601C>G c.497C>G (p.Ser166Trp) c.380C>G (p.Ser127Trp) n.546C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469299C>T | CA8786536 | AANAT | c.290C>T (p.Ser97Leu) c.425C>T (p.Ser142Leu) c.404C>T (p.Ser135Leu) c.*67C>T (n.*67C>T) n.601C>T c.497C>T (p.Ser166Leu) c.380C>T (p.Ser127Leu) n.546C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469300G>A | CA8786538 | AANAT | c.291G>A (p.Ser97=) c.426G>A (p.Ser142=) c.405G>A (p.Ser135=) c.*68G>A (n.*68G>A) n.602G>A c.498G>A (p.Ser166=) c.381G>A (p.Ser127=) n.547G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469300G>C | CA501886168 | AANAT | c.291G>C (p.Ser97=) c.426G>C (p.Ser142=) c.405G>C (p.Ser135=) c.*68G>C (n.*68G>C) n.602G>C c.498G>C (p.Ser166=) c.381G>C (p.Ser127=) n.547G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469300G= | CA2276011725 | AANAT | c.291G= (p.Ser97=) c.426G= (p.Ser142=) c.405G= (p.Ser135=) c.*68G= (n.*68G=) n.602G= c.498G= (p.Ser166=) c.381G= (p.Ser127=) n.547G= | |
| 17 | g.76469300G>T | CA501886170 | AANAT | c.291G>T (p.Ser97=) c.426G>T (p.Ser142=) c.405G>T (p.Ser135=) c.*68G>T (n.*68G>T) n.602G>T c.498G>T (p.Ser166=) c.381G>T (p.Ser127=) n.547G>T | |
| 17 | g.76469301C>A | CA401160987 | AANAT | c.292C>A (p.Leu98Ile) c.427C>A (p.Leu143Ile) c.406C>A (p.Leu136Ile) c.*69C>A (n.*69C>A) n.603C>A c.499C>A (p.Leu167Ile) c.382C>A (p.Leu128Ile) n.548C>A | |
| 17 | g.76469301C>G | CA401160988 | AANAT | c.292C>G (p.Leu98Val) c.427C>G (p.Leu143Val) c.406C>G (p.Leu136Val) c.*69C>G (n.*69C>G) n.603C>G c.499C>G (p.Leu167Val) c.382C>G (p.Leu128Val) n.548C>G | |
| 17 | g.76469301C>T | CA401160989 | AANAT | c.292C>T (p.Leu98Phe) c.427C>T (p.Leu143Phe) c.406C>T (p.Leu136Phe) c.*69C>T (n.*69C>T) n.603C>T c.499C>T (p.Leu167Phe) c.382C>T (p.Leu128Phe) n.548C>T | |
| 17 | g.76469302T>A | CA401160990 | AANAT | c.293T>A (p.Leu98His) c.428T>A (p.Leu143His) c.407T>A (p.Leu136His) c.*70T>A (n.*70T>A) n.604T>A c.500T>A (p.Leu167His) c.383T>A (p.Leu128His) n.549T>A | |
| 17 | g.76469302T>C | CA401160991 | AANAT | c.293T>C (p.Leu98Pro) c.428T>C (p.Leu143Pro) c.407T>C (p.Leu136Pro) c.*70T>C (n.*70T>C) n.604T>C c.500T>C (p.Leu167Pro) c.383T>C (p.Leu128Pro) n.549T>C | dbSNP gnomAD v2 |
| 17 | g.76469302T>G | CA401160992 | AANAT | c.293T>G (p.Leu98Arg) c.428T>G (p.Leu143Arg) c.407T>G (p.Leu136Arg) c.*70T>G (n.*70T>G) n.604T>G c.500T>G (p.Leu167Arg) c.383T>G (p.Leu128Arg) n.549T>G | |
| 17 | g.76469302T= | CA2276011726 | AANAT | c.293T= (p.Leu98=) c.428T= (p.Leu143=) c.407T= (p.Leu136=) c.*70T= (n.*70T=) n.604T= c.500T= (p.Leu167=) c.383T= (p.Leu128=) n.549T= | |
| 17 | g.76469303C>A | CA501886179 | AANAT | c.294C>A (p.Leu98=) c.429C>A (p.Leu143=) c.408C>A (p.Leu136=) c.*71C>A (n.*71C>A) n.605C>A c.501C>A (p.Leu167=) c.384C>A (p.Leu128=) n.550C>A | gnomAD v4 |
| 17 | g.76469303C>G | CA501886183 | AANAT | c.294C>G (p.Leu98=) c.429C>G (p.Leu143=) c.408C>G (p.Leu136=) c.*71C>G (n.*71C>G) n.605C>G c.501C>G (p.Leu167=) c.384C>G (p.Leu128=) n.550C>G | |
| 17 | g.76469303C>T | CA501886181 | AANAT | c.294C>T (p.Leu98=) c.429C>T (p.Leu143=) c.408C>T (p.Leu136=) c.*71C>T (n.*71C>T) n.605C>T c.501C>T (p.Leu167=) c.384C>T (p.Leu128=) n.550C>T | |
| 17 | g.76469304T>A | CA401160993 | AANAT | c.295T>A (p.Trp99Arg) c.430T>A (p.Trp144Arg) c.409T>A (p.Trp137Arg) c.*72T>A (n.*72T>A) n.606T>A c.502T>A (p.Trp168Arg) c.385T>A (p.Trp129Arg) n.551T>A | gnomAD v4 |
| 17 | g.76469304T>C | CA401160994 | AANAT | c.295T>C (p.Trp99Arg) c.430T>C (p.Trp144Arg) c.409T>C (p.Trp137Arg) c.*72T>C (n.*72T>C) n.606T>C c.502T>C (p.Trp168Arg) c.385T>C (p.Trp129Arg) n.551T>C | |
| 17 | g.76469304T>G | CA401160995 | AANAT | c.295T>G (p.Trp99Gly) c.430T>G (p.Trp144Gly) c.409T>G (p.Trp137Gly) c.*72T>G (n.*72T>G) n.606T>G c.502T>G (p.Trp168Gly) c.385T>G (p.Trp129Gly) n.551T>G | |
| 17 | g.76469305G>A | CA401160996 | AANAT | c.296G>A (p.Trp99Ter) c.431G>A (p.Trp144Ter) c.410G>A (p.Trp137Ter) c.*73G>A (n.*73G>A) n.607G>A c.503G>A (p.Trp168Ter) c.386G>A (p.Trp129Ter) n.552G>A | gnomAD v4 |
| 17 | g.76469305G>C | CA401160997 | AANAT | c.296G>C (p.Trp99Ser) c.431G>C (p.Trp144Ser) c.410G>C (p.Trp137Ser) c.*73G>C (n.*73G>C) n.607G>C c.503G>C (p.Trp168Ser) c.386G>C (p.Trp129Ser) n.552G>C | |
| 17 | g.76469305G>T | CA401160998 | AANAT | c.296G>T (p.Trp99Leu) c.431G>T (p.Trp144Leu) c.410G>T (p.Trp137Leu) c.*73G>T (n.*73G>T) n.607G>T c.503G>T (p.Trp168Leu) c.386G>T (p.Trp129Leu) n.552G>T | |
| 17 | g.76469306G>A | CA401161001 | AANAT | c.297G>A (p.Trp99Ter) c.432G>A (p.Trp144Ter) c.411G>A (p.Trp137Ter) c.*74G>A (n.*74G>A) n.608G>A c.504G>A (p.Trp168Ter) c.387G>A (p.Trp129Ter) n.553G>A | COSMIC COSMIC |
| 17 | g.76469306G>C | CA401161000 | AANAT | c.297G>C (p.Trp99Cys) c.432G>C (p.Trp144Cys) c.411G>C (p.Trp137Cys) c.*74G>C (n.*74G>C) n.608G>C c.504G>C (p.Trp168Cys) c.387G>C (p.Trp129Cys) n.553G>C | |
| 17 | g.76469306G>T | CA401160999 | AANAT | c.297G>T (p.Trp99Cys) c.432G>T (p.Trp144Cys) c.411G>T (p.Trp137Cys) c.*74G>T (n.*74G>T) n.608G>T c.504G>T (p.Trp168Cys) c.387G>T (p.Trp129Cys) n.553G>T | |
| 17 | g.76469307G>A | CA294177778 | AANAT | c.298G>A (p.Asp100Asn) c.433G>A (p.Asp145Asn) c.412G>A (p.Asp138Asn) c.*75G>A (n.*75G>A) n.609G>A c.505G>A (p.Asp169Asn) c.388G>A (p.Asp130Asn) n.554G>A | dbSNP COSMIC COSMIC |
| 17 | g.76469307G>C | CA401161002 | AANAT | c.298G>C (p.Asp100His) c.433G>C (p.Asp145His) c.412G>C (p.Asp138His) c.*75G>C (n.*75G>C) n.609G>C c.505G>C (p.Asp169His) c.388G>C (p.Asp130His) n.554G>C | ClinVar |
| 17 | g.76469307G= | CA2276011727 | AANAT | c.298G= (p.Asp100=) c.433G= (p.Asp145=) c.412G= (p.Asp138=) c.*75G= (n.*75G=) n.609G= c.505G= (p.Asp169=) c.388G= (p.Asp130=) n.554G= | |
| 17 | g.76469307G>T | CA401161003 | AANAT | c.298G>T (p.Asp100Tyr) c.433G>T (p.Asp145Tyr) c.412G>T (p.Asp138Tyr) c.*75G>T (n.*75G>T) n.609G>T c.505G>T (p.Asp169Tyr) c.388G>T (p.Asp130Tyr) n.554G>T | |
| 17 | g.76469308A>C | CA401161004 | AANAT | c.299A>C (p.Asp100Ala) c.434A>C (p.Asp145Ala) c.413A>C (p.Asp138Ala) c.*76A>C (n.*76A>C) n.610A>C c.506A>C (p.Asp169Ala) c.389A>C (p.Asp130Ala) n.555A>C | |
| 17 | g.76469308A>G | CA401161006 | AANAT | c.299A>G (p.Asp100Gly) c.434A>G (p.Asp145Gly) c.413A>G (p.Asp138Gly) c.*76A>G (n.*76A>G) n.610A>G c.506A>G (p.Asp169Gly) c.389A>G (p.Asp130Gly) n.555A>G | |
| 17 | g.76469308A>T | CA401161005 | AANAT | c.299A>T (p.Asp100Val) c.434A>T (p.Asp145Val) c.413A>T (p.Asp138Val) c.*76A>T (n.*76A>T) n.610A>T c.506A>T (p.Asp169Val) c.389A>T (p.Asp130Val) n.555A>T | |
| 17 | g.76469309C>A | CA401161007 | AANAT | c.300C>A (p.Asp100Glu) c.435C>A (p.Asp145Glu) c.414C>A (p.Asp138Glu) c.*77C>A (n.*77C>A) n.611C>A c.507C>A (p.Asp169Glu) c.390C>A (p.Asp130Glu) n.556C>A | |
| 17 | g.76469309C>G | CA401161008 | AANAT | c.300C>G (p.Asp100Glu) c.435C>G (p.Asp145Glu) c.414C>G (p.Asp138Glu) c.*77C>G (n.*77C>G) n.611C>G c.507C>G (p.Asp169Glu) c.390C>G (p.Asp130Glu) n.556C>G | |
| 17 | g.76469309C>T | CA501886204 | AANAT | c.300C>T (p.Asp100=) c.435C>T (p.Asp145=) c.414C>T (p.Asp138=) c.*77C>T (n.*77C>T) n.611C>T c.507C>T (p.Asp169=) c.390C>T (p.Asp130=) n.556C>T | |
| 17 | g.76469310A>C | CA401161009 | AANAT | c.301A>C (p.Lys101Gln) c.436A>C (p.Lys146Gln) c.415A>C (p.Lys139Gln) c.*78A>C (n.*78A>C) n.612A>C c.508A>C (p.Lys170Gln) c.391A>C (p.Lys131Gln) n.557A>C | |
| 17 | g.76469310A>G | CA401161010 | AANAT | c.301A>G (p.Lys101Glu) c.436A>G (p.Lys146Glu) c.415A>G (p.Lys139Glu) c.*78A>G (n.*78A>G) n.612A>G c.508A>G (p.Lys170Glu) c.391A>G (p.Lys131Glu) n.557A>G | |
| 17 | g.76469310A>T | CA401161011 | AANAT | c.301A>T (p.Lys101Ter) c.436A>T (p.Lys146Ter) c.415A>T (p.Lys139Ter) c.*78A>T (n.*78A>T) n.612A>T c.508A>T (p.Lys170Ter) c.391A>T (p.Lys131Ter) n.557A>T | |
| 17 | g.76469311A= | CA2276011728 | AANAT | c.302A= (p.Lys101=) c.437A= (p.Lys146=) c.416A= (p.Lys139=) c.*79A= (n.*79A=) n.613A= c.509A= (p.Lys170=) c.392A= (p.Lys131=) n.558A= | |
| 17 | g.76469311A>C | CA401161012 | AANAT | c.302A>C (p.Lys101Thr) c.437A>C (p.Lys146Thr) c.416A>C (p.Lys139Thr) c.*79A>C (n.*79A>C) n.613A>C c.509A>C (p.Lys170Thr) c.392A>C (p.Lys131Thr) n.558A>C | |
| 17 | g.76469311A>G | CA8786539 | AANAT | c.302A>G (p.Lys101Arg) c.437A>G (p.Lys146Arg) c.416A>G (p.Lys139Arg) c.*79A>G (n.*79A>G) n.613A>G c.509A>G (p.Lys170Arg) c.392A>G (p.Lys131Arg) n.558A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469311A>T | CA401161013 | AANAT | c.302A>T (p.Lys101Met) c.437A>T (p.Lys146Met) c.416A>T (p.Lys139Met) c.*79A>T (n.*79A>T) n.613A>T c.509A>T (p.Lys170Met) c.392A>T (p.Lys131Met) n.558A>T | gnomAD v4 |
| 17 | g.76469312G>A | CA8786541 | AANAT | c.303G>A (p.Lys101=) c.438G>A (p.Lys146=) c.417G>A (p.Lys139=) c.*80G>A (n.*80G>A) n.614G>A c.510G>A (p.Lys170=) c.393G>A (p.Lys131=) n.559G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469312G>C | CA8786540 | AANAT | c.303G>C (p.Lys101Asn) c.438G>C (p.Lys146Asn) c.417G>C (p.Lys139Asn) c.*80G>C (n.*80G>C) n.614G>C c.510G>C (p.Lys170Asn) c.393G>C (p.Lys131Asn) n.559G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469312G= | CA2276011729 | AANAT | c.303G= (p.Lys101=) c.438G= (p.Lys146=) c.417G= (p.Lys139=) c.*80G= (n.*80G=) n.614G= c.510G= (p.Lys170=) c.393G= (p.Lys131=) n.559G= | |
| 17 | g.76469312G>T | CA401161014 | AANAT | c.303G>T (p.Lys101Asn) c.438G>T (p.Lys146Asn) c.417G>T (p.Lys139Asn) c.*80G>T (n.*80G>T) n.614G>T c.510G>T (p.Lys170Asn) c.393G>T (p.Lys131Asn) n.559G>T | |
| 17 | g.76469312_76469314delinsGGA | CA2276011730 | AANAT | c.303_305delinsGGA (p.Lys101=) c.438_440delinsGGA (p.Lys146=) c.417_419delinsGGA (p.Lys139=) c.*80_*82delinsGGA (n.*80_*82delinsGGA) n.614_616delinsGGA c.510_512delinsGGA (p.Lys170=) c.393_395delinsGGA (p.Lys131=) n.559_561delinsGGA | |
| 17 | g.76469313G>A | CA401161017 | AANAT | c.304G>A (p.Glu102Lys) c.439G>A (p.Glu147Lys) c.418G>A (p.Glu140Lys) c.*81G>A (n.*81G>A) n.615G>A c.511G>A (p.Glu171Lys) c.394G>A (p.Glu132Lys) n.560G>A | |
| 17 | g.76469313G>C | CA401161016 | AANAT | c.304G>C (p.Glu102Gln) c.439G>C (p.Glu147Gln) c.418G>C (p.Glu140Gln) c.*81G>C (n.*81G>C) n.615G>C c.511G>C (p.Glu171Gln) c.394G>C (p.Glu132Gln) n.560G>C | gnomAD v4 |
| 17 | g.76469313G>T | CA401161015 | AANAT | c.304G>T (p.Glu102Ter) c.439G>T (p.Glu147Ter) c.418G>T (p.Glu140Ter) c.*81G>T (n.*81G>T) n.615G>T c.511G>T (p.Glu171Ter) c.394G>T (p.Glu132Ter) n.560G>T | |
| 17 | g.76469317_76469318del | CA775161377 | AANAT | c.308_309del (p.Arg103ThrfsTer?) c.443_444del (p.Arg148ThrfsTer?) c.422_423del (p.Arg141ThrfsTer?) c.*85_*86del (n.*85_*86del) n.619_620del c.515_516del (p.Arg172ThrfsTer?) c.398_399del (p.Arg133ThrfsTer?) n.564_565del | dbSNP gnomAD v4 |
| 17 | g.76469315_76469318del | CA2639995578 | AANAT | c.306_309del (p.Glu102AspfsTer7) c.441_444del (p.Glu147AspfsTer7) c.420_423del (p.Glu140AspfsTer7) c.*83_*86del (n.*83_*86del) n.617_620del c.513_516del (p.Glu171AspfsTer7) c.396_399del (p.Glu132AspfsTer7) n.562_565del | gnomAD v4 |
| 17 | g.76469314A>C | CA401161018 | AANAT | c.305A>C (p.Glu102Ala) c.440A>C (p.Glu147Ala) c.419A>C (p.Glu140Ala) c.*82A>C (n.*82A>C) n.616A>C c.512A>C (p.Glu171Ala) c.395A>C (p.Glu132Ala) n.561A>C | |
| 17 | g.76469314A>G | CA401161019 | AANAT | c.305A>G (p.Glu102Gly) c.440A>G (p.Glu147Gly) c.419A>G (p.Glu140Gly) c.*82A>G (n.*82A>G) n.616A>G c.512A>G (p.Glu171Gly) c.395A>G (p.Glu132Gly) n.561A>G | |
| 17 | g.76469314A>T | CA401161020 | AANAT | c.305A>T (p.Glu102Val) c.440A>T (p.Glu147Val) c.419A>T (p.Glu140Val) c.*82A>T (n.*82A>T) n.616A>T c.512A>T (p.Glu171Val) c.395A>T (p.Glu132Val) n.561A>T | |
| 17 | g.76469315G>A | CA501886226 | AANAT | c.306G>A (p.Glu102=) c.441G>A (p.Glu147=) c.420G>A (p.Glu140=) c.*83G>A (n.*83G>A) n.617G>A c.513G>A (p.Glu171=) c.396G>A (p.Glu132=) n.562G>A | |
| 17 | g.76469315G>C | CA401161021 | AANAT | c.306G>C (p.Glu102Asp) c.441G>C (p.Glu147Asp) c.420G>C (p.Glu140Asp) c.*83G>C (n.*83G>C) n.617G>C c.513G>C (p.Glu171Asp) c.396G>C (p.Glu132Asp) n.562G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469315G= | CA2276011731 | AANAT | c.306G= (p.Glu102=) c.441G= (p.Glu147=) c.420G= (p.Glu140=) c.*83G= (n.*83G=) n.617G= c.513G= (p.Glu171=) c.396G= (p.Glu132=) n.562G= | |
| 17 | g.76469315G>T | CA401161022 | AANAT | c.306G>T (p.Glu102Asp) c.441G>T (p.Glu147Asp) c.420G>T (p.Glu140Asp) c.*83G>T (n.*83G>T) n.617G>T c.513G>T (p.Glu171Asp) c.396G>T (p.Glu132Asp) n.562G>T | |
| 17 | g.76469316A>C | CA501886230 | AANAT | c.307A>C (p.Arg103=) c.442A>C (p.Arg148=) c.421A>C (p.Arg141=) c.*84A>C (n.*84A>C) n.618A>C c.514A>C (p.Arg172=) c.397A>C (p.Arg133=) n.563A>C | gnomAD v4 |
| 17 | g.76469316A>G | CA401161023 | AANAT | c.307A>G (p.Arg103Gly) c.442A>G (p.Arg148Gly) c.421A>G (p.Arg141Gly) c.*84A>G (n.*84A>G) n.618A>G c.514A>G (p.Arg172Gly) c.397A>G (p.Arg133Gly) n.563A>G | |
| 17 | g.76469316A>T | CA401161024 | AANAT | c.307A>T (p.Arg103Ter) c.442A>T (p.Arg148Ter) c.421A>T (p.Arg141Ter) c.*84A>T (n.*84A>T) n.618A>T c.514A>T (p.Arg172Ter) c.397A>T (p.Arg133Ter) n.563A>T | |
| 17 | g.76469317G>A | CA401161025 | AANAT | c.308G>A (p.Arg103Lys) c.443G>A (p.Arg148Lys) c.422G>A (p.Arg141Lys) c.*85G>A (n.*85G>A) n.619G>A c.515G>A (p.Arg172Lys) c.398G>A (p.Arg133Lys) n.564G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469317G>C | CA401161026 | AANAT | c.308G>C (p.Arg103Thr) c.443G>C (p.Arg148Thr) c.422G>C (p.Arg141Thr) c.*85G>C (n.*85G>C) n.619G>C c.515G>C (p.Arg172Thr) c.398G>C (p.Arg133Thr) n.564G>C | |
| 17 | g.76469317G= | CA2276011732 | AANAT | c.308G= (p.Arg103=) c.443G= (p.Arg148=) c.422G= (p.Arg141=) c.*85G= (n.*85G=) n.619G= c.515G= (p.Arg172=) c.398G= (p.Arg133=) n.564G= | |
| 17 | g.76469317G>T | CA401161027 | AANAT | c.308G>T (p.Arg103Ile) c.443G>T (p.Arg148Ile) c.422G>T (p.Arg141Ile) c.*85G>T (n.*85G>T) n.619G>T c.515G>T (p.Arg172Ile) c.398G>T (p.Arg133Ile) n.564G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469318A= | CA2276011733 | AANAT | c.309A= (p.Arg103=) c.444A= (p.Arg148=) c.423A= (p.Arg141=) c.*86A= (n.*86A=) n.620A= c.516A= (p.Arg172=) c.399A= (p.Arg133=) n.565A= | |
| 17 | g.76469318A>C | CA401161028 | AANAT | c.309A>C (p.Arg103Ser) c.444A>C (p.Arg148Ser) c.423A>C (p.Arg141Ser) c.*86A>C (n.*86A>C) n.620A>C c.516A>C (p.Arg172Ser) c.399A>C (p.Arg133Ser) n.565A>C | |
| 17 | g.76469318A>G | CA501886238 | AANAT | c.309A>G (p.Arg103=) c.444A>G (p.Arg148=) c.423A>G (p.Arg141=) c.*86A>G (n.*86A>G) n.620A>G c.516A>G (p.Arg172=) c.399A>G (p.Arg133=) n.565A>G | dbSNP gnomAD v4 |
| 17 | g.76469318A>T | CA401161029 | AANAT | c.309A>T (p.Arg103Ser) c.444A>T (p.Arg148Ser) c.423A>T (p.Arg141Ser) c.*86A>T (n.*86A>T) n.620A>T c.516A>T (p.Arg172Ser) c.399A>T (p.Arg133Ser) n.565A>T | |
| 17 | g.76469319C>A | CA401161032 | AANAT | c.310C>A (p.Leu104Ile) c.445C>A (p.Leu149Ile) c.424C>A (p.Leu142Ile) c.*87C>A (n.*87C>A) n.621C>A c.517C>A (p.Leu173Ile) c.400C>A (p.Leu134Ile) n.566C>A | |
| 17 | g.76469319C= | CA2276011734 | AANAT | c.310C= (p.Leu104=) c.445C= (p.Leu149=) c.424C= (p.Leu142=) c.*87C= (n.*87C=) n.621C= c.517C= (p.Leu173=) c.400C= (p.Leu134=) n.566C= | |
| 17 | g.76469319C>G | CA401161031 | AANAT | c.310C>G (p.Leu104Val) c.445C>G (p.Leu149Val) c.424C>G (p.Leu142Val) c.*87C>G (n.*87C>G) n.621C>G c.517C>G (p.Leu173Val) c.400C>G (p.Leu134Val) n.566C>G | |
| 17 | g.76469319C>T | CA401161030 | AANAT | c.310C>T (p.Leu104Phe) c.445C>T (p.Leu149Phe) c.424C>T (p.Leu142Phe) c.*87C>T (n.*87C>T) n.621C>T c.517C>T (p.Leu173Phe) c.400C>T (p.Leu134Phe) n.566C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469320T>A | CA401161033 | AANAT | c.311T>A (p.Leu104His) c.446T>A (p.Leu149His) c.425T>A (p.Leu142His) c.*88T>A (n.*88T>A) n.622T>A c.518T>A (p.Leu173His) c.401T>A (p.Leu134His) n.567T>A | |
| 17 | g.76469320T>C | CA401161034 | AANAT | c.311T>C (p.Leu104Pro) c.446T>C (p.Leu149Pro) c.425T>C (p.Leu142Pro) c.*88T>C (n.*88T>C) n.622T>C c.518T>C (p.Leu173Pro) c.401T>C (p.Leu134Pro) n.567T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469320T>G | CA401161035 | AANAT | c.311T>G (p.Leu104Arg) c.446T>G (p.Leu149Arg) c.425T>G (p.Leu142Arg) c.*88T>G (n.*88T>G) n.622T>G c.518T>G (p.Leu173Arg) c.401T>G (p.Leu134Arg) n.567T>G | dbSNP |
| 17 | g.76469320T= | CA2276011735 | AANAT | c.311T= (p.Leu104=) c.446T= (p.Leu149=) c.425T= (p.Leu142=) c.*88T= (n.*88T=) n.622T= c.518T= (p.Leu173=) c.401T= (p.Leu134=) n.567T= | |
| 17 | g.76469321C>A | CA501886249 | AANAT | c.312C>A (p.Leu104=) c.447C>A (p.Leu149=) c.426C>A (p.Leu142=) c.*89C>A (n.*89C>A) n.623C>A c.519C>A (p.Leu173=) c.402C>A (p.Leu134=) n.568C>A | |
| 17 | g.76469321C= | CA2276011736 | AANAT | c.312C= (p.Leu104=) c.447C= (p.Leu149=) c.426C= (p.Leu142=) c.*89C= (n.*89C=) n.623C= c.519C= (p.Leu173=) c.402C= (p.Leu134=) n.568C= | |
| 17 | g.76469321C>G | CA8786542 | AANAT | c.312C>G (p.Leu104=) c.447C>G (p.Leu149=) c.426C>G (p.Leu142=) c.*89C>G (n.*89C>G) n.623C>G c.519C>G (p.Leu173=) c.402C>G (p.Leu134=) n.568C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469321C>T | CA501886251 | AANAT | c.312C>T (p.Leu104=) c.447C>T (p.Leu149=) c.426C>T (p.Leu142=) c.*89C>T (n.*89C>T) n.623C>T c.519C>T (p.Leu173=) c.402C>T (p.Leu134=) n.568C>T | |
| 17 | g.76469322A>C | CA401161036 | AANAT | c.313A>C (p.Met105Leu) c.448A>C (p.Met150Leu) c.427A>C (p.Met143Leu) c.*90A>C (n.*90A>C) n.624A>C c.520A>C (p.Met174Leu) c.403A>C (p.Met135Leu) n.569A>C | gnomAD v4 |
| 17 | g.76469322A>G | CA401161037 | AANAT | c.313A>G (p.Met105Val) c.448A>G (p.Met150Val) c.427A>G (p.Met143Val) c.*90A>G (n.*90A>G) n.624A>G c.520A>G (p.Met174Val) c.403A>G (p.Met135Val) n.569A>G | gnomAD v4 |
| 17 | g.76469322A>T | CA401161038 | AANAT | c.313A>T (p.Met105Leu) c.448A>T (p.Met150Leu) c.427A>T (p.Met143Leu) c.*90A>T (n.*90A>T) n.624A>T c.520A>T (p.Met174Leu) c.403A>T (p.Met135Leu) n.569A>T | |
| 17 | g.76469323T>A | CA401161039 | AANAT | c.314T>A (p.Met105Lys) c.449T>A (p.Met150Lys) c.428T>A (p.Met143Lys) c.*91T>A (n.*91T>A) n.625T>A c.521T>A (p.Met174Lys) c.404T>A (p.Met135Lys) n.570T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469323T>C | CA401161040 | AANAT | c.314T>C (p.Met105Thr) c.449T>C (p.Met150Thr) c.428T>C (p.Met143Thr) c.*91T>C (n.*91T>C) n.625T>C c.521T>C (p.Met174Thr) c.404T>C (p.Met135Thr) n.570T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469323T>G | CA401161041 | AANAT | c.314T>G (p.Met105Arg) c.449T>G (p.Met150Arg) c.428T>G (p.Met143Arg) c.*91T>G (n.*91T>G) n.625T>G c.521T>G (p.Met174Arg) c.404T>G (p.Met135Arg) n.570T>G | |
| 17 | g.76469323T= | CA2276011737 | AANAT | c.314T= (p.Met105=) c.449T= (p.Met150=) c.428T= (p.Met143=) c.*91T= (n.*91T=) n.625T= c.521T= (p.Met174=) c.404T= (p.Met135=) n.570T= | |
| 17 | g.76469324G>A | CA401161042 | AANAT | c.315G>A (p.Met105Ile) c.450G>A (p.Met150Ile) c.429G>A (p.Met143Ile) c.*92G>A (n.*92G>A) n.626G>A c.522G>A (p.Met174Ile) c.405G>A (p.Met135Ile) n.571G>A | |
| 17 | g.76469324G>C | CA401161043 | AANAT | c.315G>C (p.Met105Ile) c.450G>C (p.Met150Ile) c.429G>C (p.Met143Ile) c.*92G>C (n.*92G>C) n.626G>C c.522G>C (p.Met174Ile) c.405G>C (p.Met135Ile) n.571G>C | |
| 17 | g.76469324G>T | CA401161044 | AANAT | c.315G>T (p.Met105Ile) c.450G>T (p.Met150Ile) c.429G>T (p.Met143Ile) c.*92G>T (n.*92G>T) n.626G>T c.522G>T (p.Met174Ile) c.405G>T (p.Met135Ile) n.571G>T | |
| 17 | g.76469325C>A | CA8786543 | AANAT | c.316C>A (p.Gln106Lys) c.451C>A (p.Gln151Lys) c.430C>A (p.Gln144Lys) c.*93C>A (n.*93C>A) n.627C>A c.523C>A (p.Gln175Lys) c.406C>A (p.Gln136Lys) n.572C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469325C= | CA2276011738 | AANAT | c.316C= (p.Gln106=) c.451C= (p.Gln151=) c.430C= (p.Gln144=) c.*93C= (n.*93C=) n.627C= c.523C= (p.Gln175=) c.406C= (p.Gln136=) n.572C= | |
| 17 | g.76469325C>G | CA401161045 | AANAT | c.316C>G (p.Gln106Glu) c.451C>G (p.Gln151Glu) c.430C>G (p.Gln144Glu) c.*93C>G (n.*93C>G) n.627C>G c.523C>G (p.Gln175Glu) c.406C>G (p.Gln136Glu) n.572C>G | |
| 17 | g.76469325C>T | CA8786544 | AANAT | c.316C>T (p.Gln106Ter) c.451C>T (p.Gln151Ter) c.430C>T (p.Gln144Ter) c.*93C>T (n.*93C>T) n.627C>T c.523C>T (p.Gln175Ter) c.406C>T (p.Gln136Ter) n.572C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.76469326A>C | CA401161046 | AANAT | c.317A>C (p.Gln106Pro) c.452A>C (p.Gln151Pro) c.431A>C (p.Gln144Pro) c.*94A>C (n.*94A>C) n.628A>C c.524A>C (p.Gln175Pro) c.407A>C (p.Gln136Pro) n.573A>C | |
| 17 | g.76469326A>G | CA401161047 | AANAT | c.317A>G (p.Gln106Arg) c.452A>G (p.Gln151Arg) c.431A>G (p.Gln144Arg) c.*94A>G (n.*94A>G) n.628A>G c.524A>G (p.Gln175Arg) c.407A>G (p.Gln136Arg) n.573A>G | |
| 17 | g.76469326A>T | CA401161048 | AANAT | c.317A>T (p.Gln106Leu) c.452A>T (p.Gln151Leu) c.431A>T (p.Gln144Leu) c.*94A>T (n.*94A>T) n.628A>T c.524A>T (p.Gln175Leu) c.407A>T (p.Gln136Leu) n.573A>T | |
| 17 | g.76469327G>A | CA501886271 | AANAT | c.318G>A (p.Gln106=) c.453G>A (p.Gln151=) c.432G>A (p.Gln144=) c.*95G>A (n.*95G>A) n.629G>A c.525G>A (p.Gln175=) c.408G>A (p.Gln136=) n.574G>A | |
| 17 | g.76469327G>C | CA401161049 | AANAT | c.318G>C (p.Gln106His) c.453G>C (p.Gln151His) c.432G>C (p.Gln144His) c.*95G>C (n.*95G>C) n.629G>C c.525G>C (p.Gln175His) c.408G>C (p.Gln136His) n.574G>C | dbSNP |
| 17 | g.76469327G= | CA2276011739 | AANAT | c.318G= (p.Gln106=) c.453G= (p.Gln151=) c.432G= (p.Gln144=) c.*95G= (n.*95G=) n.629G= c.525G= (p.Gln175=) c.408G= (p.Gln136=) n.574G= | |
| 17 | g.76469327G>T | CA401161050 | AANAT | c.318G>T (p.Gln106His) c.453G>T (p.Gln151His) c.432G>T (p.Gln144His) c.*95G>T (n.*95G>T) n.629G>T c.525G>T (p.Gln175His) c.408G>T (p.Gln136His) n.574G>T | |
| 17 | g.76469328G>A | CA8786545 | AANAT | c.318+1G>A (n.318+1G>A) c.453+1G>A (n.453+1G>A) c.432+1G>A (n.432+1G>A) c.*95+1G>A (n.*95+1G>A) n.629+1G>A c.525+1G>A (n.525+1G>A) c.408+1G>A (n.408+1G>A) n.574+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469328G>C | CA401161051 | AANAT | c.318+1G>C (n.318+1G>C) c.453+1G>C (n.453+1G>C) c.432+1G>C (n.432+1G>C) c.*95+1G>C (n.*95+1G>C) n.629+1G>C c.525+1G>C (n.525+1G>C) c.408+1G>C (n.408+1G>C) n.574+1G>C | |
| 17 | g.76469328G= | CA2276011740 | AANAT | c.318+1G= (n.318+1G=) c.453+1G= (n.453+1G=) c.432+1G= (n.432+1G=) c.*95+1G= (n.*95+1G=) n.629+1G= c.525+1G= (n.525+1G=) c.408+1G= (n.408+1G=) n.574+1G= | |
| 17 | g.76469328G>T | CA401161052 | AANAT | c.318+1G>T (n.318+1G>T) c.453+1G>T (n.453+1G>T) c.432+1G>T (n.432+1G>T) c.*95+1G>T (n.*95+1G>T) n.629+1G>T c.525+1G>T (n.525+1G>T) c.408+1G>T (n.408+1G>T) n.574+1G>T | |
| 17 | g.76469329T>A | CA401161053 | AANAT | c.318+2T>A (n.318+2T>A) c.453+2T>A (n.453+2T>A) c.432+2T>A (n.432+2T>A) c.*95+2T>A (n.*95+2T>A) n.629+2T>A c.525+2T>A (n.525+2T>A) c.408+2T>A (n.408+2T>A) n.574+2T>A | |
| 17 | g.76469329T>C | CA401161054 | AANAT | c.318+2T>C (n.318+2T>C) c.453+2T>C (n.453+2T>C) c.432+2T>C (n.432+2T>C) c.*95+2T>C (n.*95+2T>C) n.629+2T>C c.525+2T>C (n.525+2T>C) c.408+2T>C (n.408+2T>C) n.574+2T>C | |
| 17 | g.76469329T>G | CA401161055 | AANAT | c.318+2T>G (n.318+2T>G) c.453+2T>G (n.453+2T>G) c.432+2T>G (n.432+2T>G) c.*95+2T>G (n.*95+2T>G) n.629+2T>G c.525+2T>G (n.525+2T>G) c.408+2T>G (n.408+2T>G) n.574+2T>G | dbSNP |
| 17 | g.76469330G>A | CA2276011742 | AANAT | c.318+3G>A (n.318+3G>A) c.453+3G>A (n.453+3G>A) c.432+3G>A (n.432+3G>A) c.*95+3G>A (n.*95+3G>A) n.629+3G>A c.525+3G>A (n.525+3G>A) c.408+3G>A (n.408+3G>A) n.574+3G>A | dbSNP gnomAD v4 |
| 17 | g.76469330G>C | CA2639995618 | AANAT | c.318+3G>C (n.318+3G>C) c.453+3G>C (n.453+3G>C) c.432+3G>C (n.432+3G>C) c.*95+3G>C (n.*95+3G>C) n.629+3G>C c.525+3G>C (n.525+3G>C) c.408+3G>C (n.408+3G>C) n.574+3G>C | gnomAD v4 |
| 17 | g.76469330G= | CA2276011741 | AANAT | c.318+3G= (n.318+3G=) c.453+3G= (n.453+3G=) c.432+3G= (n.432+3G=) c.*95+3G= (n.*95+3G=) n.629+3G= c.525+3G= (n.525+3G=) c.408+3G= (n.408+3G=) n.574+3G= | |
| 17 | g.76469332G>A | CA2576500075 | AANAT | c.318+5G>A (n.318+5G>A) c.453+5G>A (n.453+5G>A) c.432+5G>A (n.432+5G>A) c.*95+5G>A (n.*95+5G>A) n.629+5G>A c.525+5G>A (n.525+5G>A) c.408+5G>A (n.408+5G>A) n.574+5G>A | gnomAD v4 |
| 17 | g.76469335C= | CA2276011743 | AANAT | c.318+8C= (n.318+8C=) c.453+8C= (n.453+8C=) c.432+8C= (n.432+8C=) c.*95+8C= (n.*95+8C=) n.629+8C= c.525+8C= (n.525+8C=) c.408+8C= (n.408+8C=) n.574+8C= | |
| 17 | g.76469335C>T | CA294177785 | AANAT | c.318+8C>T (n.318+8C>T) c.453+8C>T (n.453+8C>T) c.432+8C>T (n.432+8C>T) c.*95+8C>T (n.*95+8C>T) n.629+8C>T c.525+8C>T (n.525+8C>T) c.408+8C>T (n.408+8C>T) n.574+8C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469336A= | CA2276011744 | AANAT | c.318+9A= (n.318+9A=) c.453+9A= (n.453+9A=) c.432+9A= (n.432+9A=) c.*95+9A= (n.*95+9A=) n.629+9A= c.525+9A= (n.525+9A=) c.408+9A= (n.408+9A=) n.574+9A= | |
| 17 | g.76469336A>G | CA8786546 | AANAT | c.318+9A>G (n.318+9A>G) c.453+9A>G (n.453+9A>G) c.432+9A>G (n.432+9A>G) c.*95+9A>G (n.*95+9A>G) n.629+9A>G c.525+9A>G (n.525+9A>G) c.408+9A>G (n.408+9A>G) n.574+9A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469337G>A | CA627599519 | AANAT | c.318+10G>A (n.318+10G>A) c.453+10G>A (n.453+10G>A) c.432+10G>A (n.432+10G>A) c.*95+10G>A (n.*95+10G>A) n.629+10G>A c.525+10G>A (n.525+10G>A) c.408+10G>A (n.408+10G>A) n.574+10G>A | dbSNP gnomAD v2 |
| 17 | g.76469337G= | CA2276011745 | AANAT | c.318+10G= (n.318+10G=) c.453+10G= (n.453+10G=) c.432+10G= (n.432+10G=) c.*95+10G= (n.*95+10G=) n.629+10G= c.525+10G= (n.525+10G=) c.408+10G= (n.408+10G=) n.574+10G= | |
| 17 | g.76469338G>C | CA627599520 | AANAT | c.318+11G>C (n.318+11G>C) c.453+11G>C (n.453+11G>C) c.432+11G>C (n.432+11G>C) c.*95+11G>C (n.*95+11G>C) n.629+11G>C c.525+11G>C (n.525+11G>C) c.408+11G>C (n.408+11G>C) n.574+11G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469338G= | CA2276011746 | AANAT | c.318+11G= (n.318+11G=) c.453+11G= (n.453+11G=) c.432+11G= (n.432+11G=) c.*95+11G= (n.*95+11G=) n.629+11G= c.525+11G= (n.525+11G=) c.408+11G= (n.408+11G=) n.574+11G= | |
| 17 | g.76469339G>A | CA627599521 | AANAT | c.318+12G>A (n.318+12G>A) c.453+12G>A (n.453+12G>A) c.432+12G>A (n.432+12G>A) c.*95+12G>A (n.*95+12G>A) n.629+12G>A c.525+12G>A (n.525+12G>A) c.408+12G>A (n.408+12G>A) n.574+12G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469339G>C | CA294177791 | AANAT | c.318+12G>C (n.318+12G>C) c.453+12G>C (n.453+12G>C) c.432+12G>C (n.432+12G>C) c.*95+12G>C (n.*95+12G>C) n.629+12G>C c.525+12G>C (n.525+12G>C) c.408+12G>C (n.408+12G>C) n.574+12G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469339G= | CA2276011748 | AANAT | c.318+12G= (n.318+12G=) c.453+12G= (n.453+12G=) c.432+12G= (n.432+12G=) c.*95+12G= (n.*95+12G=) n.629+12G= c.525+12G= (n.525+12G=) c.408+12G= (n.408+12G=) n.574+12G= | |
| 17 | g.76469339G>T | CA2276011747 | AANAT | c.318+12G>T (n.318+12G>T) c.453+12G>T (n.453+12G>T) c.432+12G>T (n.432+12G>T) c.*95+12G>T (n.*95+12G>T) n.629+12G>T c.525+12G>T (n.525+12G>T) c.408+12G>T (n.408+12G>T) n.574+12G>T | dbSNP gnomAD v4 |
| 17 | g.76469342G>A | CA2639995635 | AANAT | c.318+15G>A (n.318+15G>A) c.453+15G>A (n.453+15G>A) c.432+15G>A (n.432+15G>A) c.*95+15G>A (n.*95+15G>A) n.629+15G>A c.525+15G>A (n.525+15G>A) c.408+15G>A (n.408+15G>A) n.574+15G>A | gnomAD v4 |
| 17 | g.76469342G>T | CA2639995636 | AANAT | c.318+15G>T (n.318+15G>T) c.453+15G>T (n.453+15G>T) c.432+15G>T (n.432+15G>T) c.*95+15G>T (n.*95+15G>T) n.629+15G>T c.525+15G>T (n.525+15G>T) c.408+15G>T (n.408+15G>T) n.574+15G>T | gnomAD v4 |
| 17 | g.76469343C= | CA2276011749 | AANAT | c.318+16C= (n.318+16C=) c.453+16C= (n.453+16C=) c.432+16C= (n.432+16C=) c.*95+16C= (n.*95+16C=) n.629+16C= c.525+16C= (n.525+16C=) c.408+16C= (n.408+16C=) n.574+16C= | |
| 17 | g.76469343C>T | CA8786547 | AANAT | c.318+16C>T (n.318+16C>T) c.453+16C>T (n.453+16C>T) c.432+16C>T (n.432+16C>T) c.*95+16C>T (n.*95+16C>T) n.629+16C>T c.525+16C>T (n.525+16C>T) c.408+16C>T (n.408+16C>T) n.574+16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469344G>A | CA8786548 | AANAT | c.318+17G>A (n.318+17G>A) c.453+17G>A (n.453+17G>A) c.432+17G>A (n.432+17G>A) c.*95+17G>A (n.*95+17G>A) n.629+17G>A c.525+17G>A (n.525+17G>A) c.408+17G>A (n.408+17G>A) n.574+17G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469344G>C | CA986412512 | AANAT | c.318+17G>C (n.318+17G>C) c.453+17G>C (n.453+17G>C) c.432+17G>C (n.432+17G>C) c.*95+17G>C (n.*95+17G>C) n.629+17G>C c.525+17G>C (n.525+17G>C) c.408+17G>C (n.408+17G>C) n.574+17G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469344G= | CA2276011750 | AANAT | c.318+17G= (n.318+17G=) c.453+17G= (n.453+17G=) c.432+17G= (n.432+17G=) c.*95+17G= (n.*95+17G=) n.629+17G= c.525+17G= (n.525+17G=) c.408+17G= (n.408+17G=) n.574+17G= | |
| 17 | g.76469346C>A | CA8786550 | AANAT | c.318+19C>A (n.318+19C>A) c.453+19C>A (n.453+19C>A) c.432+19C>A (n.432+19C>A) c.*95+19C>A (n.*95+19C>A) n.629+19C>A c.525+19C>A (n.525+19C>A) c.408+19C>A (n.408+19C>A) n.574+19C>A | dbSNP ExAC gnomAD v2 |
| 17 | g.76469346C= | CA2276011751 | AANAT | c.318+19C= (n.318+19C=) c.453+19C= (n.453+19C=) c.432+19C= (n.432+19C=) c.*95+19C= (n.*95+19C=) n.629+19C= c.525+19C= (n.525+19C=) c.408+19C= (n.408+19C=) n.574+19C= | |
| 17 | g.76469346C>T | CA8786549 | AANAT | c.318+19C>T (n.318+19C>T) c.453+19C>T (n.453+19C>T) c.432+19C>T (n.432+19C>T) c.*95+19C>T (n.*95+19C>T) n.629+19C>T c.525+19C>T (n.525+19C>T) c.408+19C>T (n.408+19C>T) n.574+19C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469347G>A | CA8786551 | AANAT | c.318+20G>A (n.318+20G>A) c.453+20G>A (n.453+20G>A) c.432+20G>A (n.432+20G>A) c.*95+20G>A (n.*95+20G>A) n.629+20G>A c.525+20G>A (n.525+20G>A) c.408+20G>A (n.408+20G>A) n.574+20G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469347G>C | CA2639995643 | AANAT | c.318+20G>C (n.318+20G>C) c.453+20G>C (n.453+20G>C) c.432+20G>C (n.432+20G>C) c.*95+20G>C (n.*95+20G>C) n.629+20G>C c.525+20G>C (n.525+20G>C) c.408+20G>C (n.408+20G>C) n.574+20G>C | gnomAD v4 |
| 17 | g.76469347G= | CA2276011752 | AANAT | c.318+20G= (n.318+20G=) c.453+20G= (n.453+20G=) c.432+20G= (n.432+20G=) c.*95+20G= (n.*95+20G=) n.629+20G= c.525+20G= (n.525+20G=) c.408+20G= (n.408+20G=) n.574+20G= | |
| 17 | g.76469347G>T | CA627599484 | AANAT | c.318+20G>T (n.318+20G>T) c.453+20G>T (n.453+20G>T) c.432+20G>T (n.432+20G>T) c.*95+20G>T (n.*95+20G>T) n.629+20G>T c.525+20G>T (n.525+20G>T) c.408+20G>T (n.408+20G>T) n.574+20G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469348C= | CA2276011753 | AANAT | c.318+21C= (n.318+21C=) c.453+21C= (n.453+21C=) c.432+21C= (n.432+21C=) c.*95+21C= (n.*95+21C=) n.629+21C= c.525+21C= (n.525+21C=) c.408+21C= (n.408+21C=) n.574+21C= | |
| 17 | g.76469348C>G | CA2639995645 | AANAT | c.318+21C>G (n.318+21C>G) c.453+21C>G (n.453+21C>G) c.432+21C>G (n.432+21C>G) c.*95+21C>G (n.*95+21C>G) n.629+21C>G c.525+21C>G (n.525+21C>G) c.408+21C>G (n.408+21C>G) n.574+21C>G | gnomAD v4 |
| 17 | g.76469348C>T | CA8786552 | AANAT | c.318+21C>T (n.318+21C>T) c.453+21C>T (n.453+21C>T) c.432+21C>T (n.432+21C>T) c.*95+21C>T (n.*95+21C>T) n.629+21C>T c.525+21C>T (n.525+21C>T) c.408+21C>T (n.408+21C>T) n.574+21C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469349C>A | CA2576500076 | AANAT | c.318+22C>A (n.318+22C>A) c.453+22C>A (n.453+22C>A) c.432+22C>A (n.432+22C>A) c.*95+22C>A (n.*95+22C>A) n.629+22C>A c.525+22C>A (n.525+22C>A) c.408+22C>A (n.408+22C>A) n.574+22C>A | |
| 17 | g.76469349C= | CA2276011755 | AANAT | c.318+22C= (n.318+22C=) c.453+22C= (n.453+22C=) c.432+22C= (n.432+22C=) c.*95+22C= (n.*95+22C=) n.629+22C= c.525+22C= (n.525+22C=) c.408+22C= (n.408+22C=) n.574+22C= | |
| 17 | g.76469349C>T | CA2276011754 | AANAT | c.318+22C>T (n.318+22C>T) c.453+22C>T (n.453+22C>T) c.432+22C>T (n.432+22C>T) c.*95+22C>T (n.*95+22C>T) n.629+22C>T c.525+22C>T (n.525+22C>T) c.408+22C>T (n.408+22C>T) n.574+22C>T | dbSNP |
| 17 | g.76469350C= | CA2276011756 | AANAT | c.318+23C= (n.318+23C=) c.453+23C= (n.453+23C=) c.432+23C= (n.432+23C=) c.*95+23C= (n.*95+23C=) n.629+23C= c.525+23C= (n.525+23C=) c.408+23C= (n.408+23C=) n.574+23C= | |
| 17 | g.76469350C>T | CA294177841 | AANAT | c.318+23C>T (n.318+23C>T) c.453+23C>T (n.453+23C>T) c.432+23C>T (n.432+23C>T) c.*95+23C>T (n.*95+23C>T) n.629+23C>T c.525+23C>T (n.525+23C>T) c.408+23C>T (n.408+23C>T) n.574+23C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.76469351A= | CA2276011757 | AANAT | c.318+24A= (n.318+24A=) c.453+24A= (n.453+24A=) c.432+24A= (n.432+24A=) c.*95+24A= (n.*95+24A=) n.629+24A= c.525+24A= (n.525+24A=) c.408+24A= (n.408+24A=) n.574+24A= | |
| 17 | g.76469351A>C | CA8786553 | AANAT | c.318+24A>C (n.318+24A>C) c.453+24A>C (n.453+24A>C) c.432+24A>C (n.432+24A>C) c.*95+24A>C (n.*95+24A>C) n.629+24A>C c.525+24A>C (n.525+24A>C) c.408+24A>C (n.408+24A>C) n.574+24A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.76469353C>A | CA2639995650 | AANAT | c.318+26C>A (n.318+26C>A) c.453+26C>A (n.453+26C>A) c.432+26C>A (n.432+26C>A) c.*95+26C>A (n.*95+26C>A) n.629+26C>A c.525+26C>A (n.525+26C>A) c.408+26C>A (n.408+26C>A) n.574+26C>A | gnomAD v4 |
| 17 | g.76469354T>A | CA627599485 | AANAT | c.318+27T>A (n.318+27T>A) c.453+27T>A (n.453+27T>A) c.432+27T>A (n.432+27T>A) c.*95+27T>A (n.*95+27T>A) n.629+27T>A c.525+27T>A (n.525+27T>A) c.408+27T>A (n.408+27T>A) n.574+27T>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469354T= | CA2276011758 | AANAT | c.318+27T= (n.318+27T=) c.453+27T= (n.453+27T=) c.432+27T= (n.432+27T=) c.*95+27T= (n.*95+27T=) n.629+27T= c.525+27T= (n.525+27T=) c.408+27T= (n.408+27T=) n.574+27T= |