UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.86674335C>A | CA492229005 | AGBL1 | c.3120C>A (p.Leu1040=) c.3057C>A (p.Leu1019=) n.216C>A c.2982C>A (p.Leu994=) c.3024C>A (p.Leu1008=) c.2973C>A (p.Leu991=) | gnomAD v4 |
| 15 | g.86674335C>G | CA492229006 | AGBL1 | c.3120C>G (p.Leu1040=) c.3057C>G (p.Leu1019=) n.216C>G c.2982C>G (p.Leu994=) c.3024C>G (p.Leu1008=) c.2973C>G (p.Leu991=) | |
| 15 | g.86674335C>T | CA492229007 | AGBL1 | c.3120C>T (p.Leu1040=) c.3057C>T (p.Leu1019=) n.216C>T c.2982C>T (p.Leu994=) c.3024C>T (p.Leu1008=) c.2973C>T (p.Leu991=) | |
| 15 | g.86674336A= | CA2193304052 | AGBL1 | c.3121A= (p.Ile1041=) c.3058A= (p.Ile1020=) n.217A= c.2983A= (p.Ile995=) c.3025A= (p.Ile1009=) c.2974A= (p.Ile992=) | |
| 15 | g.86674336A>C | CA393432928 | AGBL1 | c.3121A>C (p.Ile1041Leu) c.3058A>C (p.Ile1020Leu) n.217A>C c.2983A>C (p.Ile995Leu) c.3025A>C (p.Ile1009Leu) c.2974A>C (p.Ile992Leu) | |
| 15 | g.86674336A>G | CA393432929 | AGBL1 | c.3121A>G (p.Ile1041Val) c.3058A>G (p.Ile1020Val) n.217A>G c.2983A>G (p.Ile995Val) c.3025A>G (p.Ile1009Val) c.2974A>G (p.Ile992Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674336A>T | CA393432930 | AGBL1 | c.3121A>T (p.Ile1041Phe) c.3058A>T (p.Ile1020Phe) n.217A>T c.2983A>T (p.Ile995Phe) c.3025A>T (p.Ile1009Phe) c.2974A>T (p.Ile992Phe) | |
| 15 | g.86674337T>A | CA393432931 | AGBL1 | c.3122T>A (p.Ile1041Asn) c.3059T>A (p.Ile1020Asn) n.218T>A c.2984T>A (p.Ile995Asn) c.3026T>A (p.Ile1009Asn) c.2975T>A (p.Ile992Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674337T>C | CA393432932 | AGBL1 | c.3122T>C (p.Ile1041Thr) c.3059T>C (p.Ile1020Thr) n.218T>C c.2984T>C (p.Ile995Thr) c.3026T>C (p.Ile1009Thr) c.2975T>C (p.Ile992Thr) | gnomAD v4 |
| 15 | g.86674337T>G | CA393432933 | AGBL1 | c.3122T>G (p.Ile1041Ser) c.3059T>G (p.Ile1020Ser) n.218T>G c.2984T>G (p.Ile995Ser) c.3026T>G (p.Ile1009Ser) c.2975T>G (p.Ile992Ser) | |
| 15 | g.86674337T= | CA2193304054 | AGBL1 | c.3122T= (p.Ile1041=) c.3059T= (p.Ile1020=) n.218T= c.2984T= (p.Ile995=) c.3026T= (p.Ile1009=) c.2975T= (p.Ile992=) | |
| 15 | g.86674338C>A | CA492229008 | AGBL1 | c.3123C>A (p.Ile1041=) c.3060C>A (p.Ile1020=) n.219C>A c.2985C>A (p.Ile995=) c.3027C>A (p.Ile1009=) c.2976C>A (p.Ile992=) | |
| 15 | g.86674338C= | CA2193304058 | AGBL1 | c.3123C= (p.Ile1041=) c.3060C= (p.Ile1020=) n.219C= c.2985C= (p.Ile995=) c.3027C= (p.Ile1009=) c.2976C= (p.Ile992=) | |
| 15 | g.86674338C>G | CA393432934 | AGBL1 | c.3123C>G (p.Ile1041Met) c.3060C>G (p.Ile1020Met) n.219C>G c.2985C>G (p.Ile995Met) c.3027C>G (p.Ile1009Met) c.2976C>G (p.Ile992Met) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.86674338C>T | CA7716357 | AGBL1 | c.3123C>T (p.Ile1041=) c.3060C>T (p.Ile1020=) n.219C>T c.2985C>T (p.Ile995=) c.3027C>T (p.Ile1009=) c.2976C>T (p.Ile992=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674339C>A | CA393432935 | AGBL1 | c.3124C>A (p.Leu1042Met) c.3061C>A (p.Leu1021Met) n.220C>A c.2986C>A (p.Leu996Met) c.3028C>A (p.Leu1010Met) c.2977C>A (p.Leu993Met) | |
| 15 | g.86674339C= | CA2193304061 | AGBL1 | c.3124C= (p.Leu1042=) c.3061C= (p.Leu1021=) n.220C= c.2986C= (p.Leu996=) c.3028C= (p.Leu1010=) c.2977C= (p.Leu993=) | |
| 15 | g.86674339C>G | CA7716358 | AGBL1 | c.3124C>G (p.Leu1042Val) c.3061C>G (p.Leu1021Val) n.220C>G c.2986C>G (p.Leu996Val) c.3028C>G (p.Leu1010Val) c.2977C>G (p.Leu993Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674339C>T | CA492229009 | AGBL1 | c.3124C>T (p.Leu1042=) c.3061C>T (p.Leu1021=) n.220C>T c.2986C>T (p.Leu996=) c.3028C>T (p.Leu1010=) c.2977C>T (p.Leu993=) | |
| 15 | g.86674340T>A | CA393432937 | AGBL1 | c.3125T>A (p.Leu1042Gln) c.3062T>A (p.Leu1021Gln) n.221T>A c.2987T>A (p.Leu996Gln) c.3029T>A (p.Leu1010Gln) c.2978T>A (p.Leu993Gln) | |
| 15 | g.86674340T>C | CA393432938 | AGBL1 | c.3125T>C (p.Leu1042Pro) c.3062T>C (p.Leu1021Pro) n.221T>C c.2987T>C (p.Leu996Pro) c.3029T>C (p.Leu1010Pro) c.2978T>C (p.Leu993Pro) | |
| 15 | g.86674340T>G | CA393432936 | AGBL1 | c.3125T>G (p.Leu1042Arg) c.3062T>G (p.Leu1021Arg) n.221T>G c.2987T>G (p.Leu996Arg) c.3029T>G (p.Leu1010Arg) c.2978T>G (p.Leu993Arg) | |
| 15 | g.86674341G>A | CA492229012 | AGBL1 | c.3126G>A (p.Leu1042=) c.3063G>A (p.Leu1021=) n.222G>A c.2988G>A (p.Leu996=) c.3030G>A (p.Leu1010=) c.2979G>A (p.Leu993=) | |
| 15 | g.86674341G>C | CA492229010 | AGBL1 | c.3126G>C (p.Leu1042=) c.3063G>C (p.Leu1021=) n.222G>C c.2988G>C (p.Leu996=) c.3030G>C (p.Leu1010=) c.2979G>C (p.Leu993=) | |
| 15 | g.86674341G>T | CA492229011 | AGBL1 | c.3126G>T (p.Leu1042=) c.3063G>T (p.Leu1021=) n.222G>T c.2988G>T (p.Leu996=) c.3030G>T (p.Leu1010=) c.2979G>T (p.Leu993=) | |
| 15 | g.86674342G>A | CA7716359 | AGBL1 | c.3127G>A (p.Glu1043Lys) c.3064G>A (p.Glu1022Lys) n.223G>A c.2989G>A (p.Glu997Lys) c.3031G>A (p.Glu1011Lys) c.2980G>A (p.Glu994Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674342G>C | CA393432939 | AGBL1 | c.3127G>C (p.Glu1043Gln) c.3064G>C (p.Glu1022Gln) n.223G>C c.2989G>C (p.Glu997Gln) c.3031G>C (p.Glu1011Gln) c.2980G>C (p.Glu994Gln) | |
| 15 | g.86674342G= | CA2193304063 | AGBL1 | c.3127G= (p.Glu1043=) c.3064G= (p.Glu1022=) n.223G= c.2989G= (p.Glu997=) c.3031G= (p.Glu1011=) c.2980G= (p.Glu994=) | |
| 15 | g.86674342G>T | CA393432940 | AGBL1 | c.3127G>T (p.Glu1043Ter) c.3064G>T (p.Glu1022Ter) n.223G>T c.2989G>T (p.Glu997Ter) c.3031G>T (p.Glu1011Ter) c.2980G>T (p.Glu994Ter) | |
| 15 | g.86674343A= | CA2193304065 | AGBL1 | c.3128A= (p.Glu1043=) c.3065A= (p.Glu1022=) n.224A= c.2990A= (p.Glu997=) c.3032A= (p.Glu1011=) c.2981A= (p.Glu994=) | |
| 15 | g.86674343A>C | CA393432941 | AGBL1 | c.3128A>C (p.Glu1043Ala) c.3065A>C (p.Glu1022Ala) n.224A>C c.2990A>C (p.Glu997Ala) c.3032A>C (p.Glu1011Ala) c.2981A>C (p.Glu994Ala) | |
| 15 | g.86674343A>G | CA393432942 | AGBL1 | c.3128A>G (p.Glu1043Gly) c.3065A>G (p.Glu1022Gly) n.224A>G c.2990A>G (p.Glu997Gly) c.3032A>G (p.Glu1011Gly) c.2981A>G (p.Glu994Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674343A>T | CA393432943 | AGBL1 | c.3128A>T (p.Glu1043Val) c.3065A>T (p.Glu1022Val) n.224A>T c.2990A>T (p.Glu997Val) c.3032A>T (p.Glu1011Val) c.2981A>T (p.Glu994Val) | dbSNP gnomAD v4 |
| 15 | g.86674344G>A | CA492229013 | AGBL1 | c.3129G>A (p.Glu1043=) c.3066G>A (p.Glu1022=) n.225G>A c.2991G>A (p.Glu997=) c.3033G>A (p.Glu1011=) c.2982G>A (p.Glu994=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674344G>C | CA393432944 | AGBL1 | c.3129G>C (p.Glu1043Asp) c.3066G>C (p.Glu1022Asp) n.225G>C c.2991G>C (p.Glu997Asp) c.3033G>C (p.Glu1011Asp) c.2982G>C (p.Glu994Asp) | |
| 15 | g.86674344G= | CA2193304067 | AGBL1 | c.3129G= (p.Glu1043=) c.3066G= (p.Glu1022=) n.225G= c.2991G= (p.Glu997=) c.3033G= (p.Glu1011=) c.2982G= (p.Glu994=) | |
| 15 | g.86674344G>T | CA393432945 | AGBL1 | c.3129G>T (p.Glu1043Asp) c.3066G>T (p.Glu1022Asp) n.225G>T c.2991G>T (p.Glu997Asp) c.3033G>T (p.Glu1011Asp) c.2982G>T (p.Glu994Asp) | |
| 15 | g.86674345C>A | CA393432946 | AGBL1 | c.3130C>A (p.Leu1044Ile) c.3067C>A (p.Leu1023Ile) n.226C>A c.2992C>A (p.Leu998Ile) c.3034C>A (p.Leu1012Ile) c.2983C>A (p.Leu995Ile) | |
| 15 | g.86674345C= | CA2193304069 | AGBL1 | c.3130C= (p.Leu1044=) c.3067C= (p.Leu1023=) n.226C= c.2992C= (p.Leu998=) c.3034C= (p.Leu1012=) c.2983C= (p.Leu995=) | |
| 15 | g.86674345C>G | CA393432947 | AGBL1 | c.3130C>G (p.Leu1044Val) c.3067C>G (p.Leu1023Val) n.226C>G c.2992C>G (p.Leu998Val) c.3034C>G (p.Leu1012Val) c.2983C>G (p.Leu995Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674345C>T | CA7716360 | AGBL1 | c.3130C>T (p.Leu1044Phe) c.3067C>T (p.Leu1023Phe) n.226C>T c.2992C>T (p.Leu998Phe) c.3034C>T (p.Leu1012Phe) c.2983C>T (p.Leu995Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674346T>A | CA393432950 | AGBL1 | c.3131T>A (p.Leu1044His) c.3068T>A (p.Leu1023His) n.227T>A c.2993T>A (p.Leu998His) c.3035T>A (p.Leu1012His) c.2984T>A (p.Leu995His) | |
| 15 | g.86674346T>C | CA393432949 | AGBL1 | c.3131T>C (p.Leu1044Pro) c.3068T>C (p.Leu1023Pro) n.227T>C c.2993T>C (p.Leu998Pro) c.3035T>C (p.Leu1012Pro) c.2984T>C (p.Leu995Pro) | |
| 15 | g.86674346T>G | CA393432948 | AGBL1 | c.3131T>G (p.Leu1044Arg) c.3068T>G (p.Leu1023Arg) n.227T>G c.2993T>G (p.Leu998Arg) c.3035T>G (p.Leu1012Arg) c.2984T>G (p.Leu995Arg) | |
| 15 | g.86674347C>A | CA492229014 | AGBL1 | c.3132C>A (p.Leu1044=) c.3069C>A (p.Leu1023=) n.228C>A c.2994C>A (p.Leu998=) c.3036C>A (p.Leu1012=) c.2985C>A (p.Leu995=) | |
| 15 | g.86674347C>G | CA492229015 | AGBL1 | c.3132C>G (p.Leu1044=) c.3069C>G (p.Leu1023=) n.228C>G c.2994C>G (p.Leu998=) c.3036C>G (p.Leu1012=) c.2985C>G (p.Leu995=) | |
| 15 | g.86674347C>T | CA492229016 | AGBL1 | c.3132C>T (p.Leu1044=) c.3069C>T (p.Leu1023=) n.228C>T c.2994C>T (p.Leu998=) c.3036C>T (p.Leu1012=) c.2985C>T (p.Leu995=) | |
| 15 | g.86674348A= | CA2193304074 | AGBL1 | c.3133A= (p.Lys1045=) c.3070A= (p.Lys1024=) n.229A= c.2995A= (p.Lys999=) c.3037A= (p.Lys1013=) c.2986A= (p.Lys996=) | |
| 15 | g.86674348A>C | CA393432951 | AGBL1 | c.3133A>C (p.Lys1045Gln) c.3070A>C (p.Lys1024Gln) n.229A>C c.2995A>C (p.Lys999Gln) c.3037A>C (p.Lys1013Gln) c.2986A>C (p.Lys996Gln) | dbSNP |
| 15 | g.86674348A>G | CA393432952 | AGBL1 | c.3133A>G (p.Lys1045Glu) c.3070A>G (p.Lys1024Glu) n.229A>G c.2995A>G (p.Lys999Glu) c.3037A>G (p.Lys1013Glu) c.2986A>G (p.Lys996Glu) | |
| 15 | g.86674348A>T | CA393432953 | AGBL1 | c.3133A>T (p.Lys1045Ter) c.3070A>T (p.Lys1024Ter) n.229A>T c.2995A>T (p.Lys999Ter) c.3037A>T (p.Lys1013Ter) c.2986A>T (p.Lys996Ter) | |
| 15 | g.86674349A>C | CA393432954 | AGBL1 | c.3134A>C (p.Lys1045Thr) c.3071A>C (p.Lys1024Thr) n.230A>C c.2996A>C (p.Lys999Thr) c.3038A>C (p.Lys1013Thr) c.2987A>C (p.Lys996Thr) | gnomAD v4 |
| 15 | g.86674349A>G | CA393432955 | AGBL1 | c.3134A>G (p.Lys1045Arg) c.3071A>G (p.Lys1024Arg) n.230A>G c.2996A>G (p.Lys999Arg) c.3038A>G (p.Lys1013Arg) c.2987A>G (p.Lys996Arg) | |
| 15 | g.86674349A>T | CA393432956 | AGBL1 | c.3134A>T (p.Lys1045Ile) c.3071A>T (p.Lys1024Ile) n.230A>T c.2996A>T (p.Lys999Ile) c.3038A>T (p.Lys1013Ile) c.2987A>T (p.Lys996Ile) | |
| 15 | g.86674350A= | CA2193304076 | AGBL1 | c.3135A= (p.Lys1045=) c.3072A= (p.Lys1024=) n.231A= c.2997A= (p.Lys999=) c.3039A= (p.Lys1013=) c.2988A= (p.Lys996=) | |
| 15 | g.86674350A>C | CA393432957 | AGBL1 | c.3135A>C (p.Lys1045Asn) c.3072A>C (p.Lys1024Asn) n.231A>C c.2997A>C (p.Lys999Asn) c.3039A>C (p.Lys1013Asn) c.2988A>C (p.Lys996Asn) | |
| 15 | g.86674350A>G | CA7716361 | AGBL1 | c.3135A>G (p.Lys1045=) c.3072A>G (p.Lys1024=) n.231A>G c.2997A>G (p.Lys999=) c.3039A>G (p.Lys1013=) c.2988A>G (p.Lys996=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.86674350A>T | CA393432958 | AGBL1 | c.3135A>T (p.Lys1045Asn) c.3072A>T (p.Lys1024Asn) n.231A>T c.2997A>T (p.Lys999Asn) c.3039A>T (p.Lys1013Asn) c.2988A>T (p.Lys996Asn) | |
| 15 | g.86674351T>A | CA393432959 | AGBL1 | c.3136T>A (p.Ser1046Thr) c.3073T>A (p.Ser1025Thr) n.232T>A c.2998T>A (p.Ser1000Thr) c.3040T>A (p.Ser1014Thr) c.2989T>A (p.Ser997Thr) | |
| 15 | g.86674351T>C | CA393432960 | AGBL1 | c.3136T>C (p.Ser1046Pro) c.3073T>C (p.Ser1025Pro) n.232T>C c.2998T>C (p.Ser1000Pro) c.3040T>C (p.Ser1014Pro) c.2989T>C (p.Ser997Pro) | gnomAD v4 |
| 15 | g.86674351T>G | CA393432961 | AGBL1 | c.3136T>G (p.Ser1046Ala) c.3073T>G (p.Ser1025Ala) n.232T>G c.2998T>G (p.Ser1000Ala) c.3040T>G (p.Ser1014Ala) c.2989T>G (p.Ser997Ala) | |
| 15 | g.86674352C>A | CA393432964 | AGBL1 | c.3137C>A (p.Ser1046Tyr) c.3074C>A (p.Ser1025Tyr) n.233C>A c.2999C>A (p.Ser1000Tyr) c.3041C>A (p.Ser1014Tyr) c.2990C>A (p.Ser997Tyr) | |
| 15 | g.86674352C= | CA2193304080 | AGBL1 | c.3137C= (p.Ser1046=) c.3074C= (p.Ser1025=) n.233C= c.2999C= (p.Ser1000=) c.3041C= (p.Ser1014=) c.2990C= (p.Ser997=) | |
| 15 | g.86674352C>G | CA393432963 | AGBL1 | c.3137C>G (p.Ser1046Cys) c.3074C>G (p.Ser1025Cys) n.233C>G c.2999C>G (p.Ser1000Cys) c.3041C>G (p.Ser1014Cys) c.2990C>G (p.Ser997Cys) | |
| 15 | g.86674352C>T | CA393432962 | AGBL1 | c.3137C>T (p.Ser1046Phe) c.3074C>T (p.Ser1025Phe) n.233C>T c.2999C>T (p.Ser1000Phe) c.3041C>T (p.Ser1014Phe) c.2990C>T (p.Ser997Phe) | dbSNP gnomAD v4 |
| 15 | g.86674353T>A | CA492229017 | AGBL1 | c.3138T>A (p.Ser1046=) c.3075T>A (p.Ser1025=) n.234T>A c.3000T>A (p.Ser1000=) c.3042T>A (p.Ser1014=) c.2991T>A (p.Ser997=) | |
| 15 | g.86674353T>C | CA492229018 | AGBL1 | c.3138T>C (p.Ser1046=) c.3075T>C (p.Ser1025=) n.234T>C c.3000T>C (p.Ser1000=) c.3042T>C (p.Ser1014=) c.2991T>C (p.Ser997=) | |
| 15 | g.86674353T>G | CA492229019 | AGBL1 | c.3138T>G (p.Ser1046=) c.3075T>G (p.Ser1025=) n.234T>G c.3000T>G (p.Ser1000=) c.3042T>G (p.Ser1014=) c.2991T>G (p.Ser997=) | |
| 15 | g.86674354G>A | CA7716362 | AGBL1 | c.3139G>A (p.Ala1047Thr) c.3076G>A (p.Ala1026Thr) n.235G>A c.3001G>A (p.Ala1001Thr) c.3043G>A (p.Ala1015Thr) c.2992G>A (p.Ala998Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.86674354G>C | CA393432966 | AGBL1 | c.3139G>C (p.Ala1047Pro) c.3076G>C (p.Ala1026Pro) n.235G>C c.3001G>C (p.Ala1001Pro) c.3043G>C (p.Ala1015Pro) c.2992G>C (p.Ala998Pro) | gnomAD v4 |
| 15 | g.86674354G= | CA2193304085 | AGBL1 | c.3139G= (p.Ala1047=) c.3076G= (p.Ala1026=) n.235G= c.3001G= (p.Ala1001=) c.3043G= (p.Ala1015=) c.2992G= (p.Ala998=) | |
| 15 | g.86674354G>T | CA393432965 | AGBL1 | c.3139G>T (p.Ala1047Ser) c.3076G>T (p.Ala1026Ser) n.235G>T c.3001G>T (p.Ala1001Ser) c.3043G>T (p.Ala1015Ser) c.2992G>T (p.Ala998Ser) | gnomAD v4 |
| 15 | g.86674355C>A | CA393432967 | AGBL1 | c.3140C>A (p.Ala1047Asp) c.3077C>A (p.Ala1026Asp) n.236C>A c.3002C>A (p.Ala1001Asp) c.3044C>A (p.Ala1015Asp) c.2993C>A (p.Ala998Asp) | |
| 15 | g.86674355C= | CA2193304089 | AGBL1 | c.3140C= (p.Ala1047=) c.3077C= (p.Ala1026=) n.236C= c.3002C= (p.Ala1001=) c.3044C= (p.Ala1015=) c.2993C= (p.Ala998=) | |
| 15 | g.86674355C>G | CA393432968 | AGBL1 | c.3140C>G (p.Ala1047Gly) c.3077C>G (p.Ala1026Gly) n.236C>G c.3002C>G (p.Ala1001Gly) c.3044C>G (p.Ala1015Gly) c.2993C>G (p.Ala998Gly) | |
| 15 | g.86674355C>T | CA7716363 | AGBL1 | c.3140C>T (p.Ala1047Val) c.3077C>T (p.Ala1026Val) n.236C>T c.3002C>T (p.Ala1001Val) c.3044C>T (p.Ala1015Val) c.2993C>T (p.Ala998Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674356del | CA645572387 | AGBL1 | c.3141del (p.Ser1048AlafsTer14) c.3078del (p.Ser1027AlafsTer14) n.237del c.3003del (p.Ser1002AlafsTer14) c.3045del (p.Ser1016AlafsTer14) c.2994del (p.Ser999AlafsTer14) | COSMIC COSMIC COSMIC |
| 15 | g.86674356C>A | CA492229020 | AGBL1 | c.3141C>A (p.Ala1047=) c.3078C>A (p.Ala1026=) n.237C>A c.3003C>A (p.Ala1001=) c.3045C>A (p.Ala1015=) c.2994C>A (p.Ala998=) | |
| 15 | g.86674356C= | CA2193304092 | AGBL1 | c.3141C= (p.Ala1047=) c.3078C= (p.Ala1026=) n.237C= c.3003C= (p.Ala1001=) c.3045C= (p.Ala1015=) c.2994C= (p.Ala998=) | |
| 15 | g.86674356C>G | CA492229021 | AGBL1 | c.3141C>G (p.Ala1047=) c.3078C>G (p.Ala1026=) n.237C>G c.3003C>G (p.Ala1001=) c.3045C>G (p.Ala1015=) c.2994C>G (p.Ala998=) | |
| 15 | g.86674356C>T | CA7716364 | AGBL1 | c.3141C>T (p.Ala1047=) c.3078C>T (p.Ala1026=) n.237C>T c.3003C>T (p.Ala1001=) c.3045C>T (p.Ala1015=) c.2994C>T (p.Ala998=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674357A>C | CA393432969 | AGBL1 | c.3142A>C (p.Ser1048Arg) c.3079A>C (p.Ser1027Arg) n.238A>C c.3004A>C (p.Ser1002Arg) c.3046A>C (p.Ser1016Arg) c.2995A>C (p.Ser999Arg) | |
| 15 | g.86674357A>G | CA393432970 | AGBL1 | c.3142A>G (p.Ser1048Gly) c.3079A>G (p.Ser1027Gly) n.238A>G c.3004A>G (p.Ser1002Gly) c.3046A>G (p.Ser1016Gly) c.2995A>G (p.Ser999Gly) | |
| 15 | g.86674357A>T | CA393432971 | AGBL1 | c.3142A>T (p.Ser1048Cys) c.3079A>T (p.Ser1027Cys) n.238A>T c.3004A>T (p.Ser1002Cys) c.3046A>T (p.Ser1016Cys) c.2995A>T (p.Ser999Cys) | |
| 15 | g.86674358G>A | CA7716365 | AGBL1 | c.3143G>A (p.Ser1048Asn) c.3080G>A (p.Ser1027Asn) n.239G>A c.3005G>A (p.Ser1002Asn) c.3047G>A (p.Ser1016Asn) c.2996G>A (p.Ser999Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674358G>C | CA393432972 | AGBL1 | c.3143G>C (p.Ser1048Thr) c.3080G>C (p.Ser1027Thr) n.239G>C c.3005G>C (p.Ser1002Thr) c.3047G>C (p.Ser1016Thr) c.2996G>C (p.Ser999Thr) | |
| 15 | g.86674358G= | CA2193304094 | AGBL1 | c.3143G= (p.Ser1048=) c.3080G= (p.Ser1027=) n.239G= c.3005G= (p.Ser1002=) c.3047G= (p.Ser1016=) c.2996G= (p.Ser999=) | |
| 15 | g.86674358G>T | CA393432973 | AGBL1 | c.3143G>T (p.Ser1048Ile) c.3080G>T (p.Ser1027Ile) n.239G>T c.3005G>T (p.Ser1002Ile) c.3047G>T (p.Ser1016Ile) c.2996G>T (p.Ser999Ile) | |
| 15 | g.86674359C>A | CA393432974 | AGBL1 | c.3144C>A (p.Ser1048Arg) c.3081C>A (p.Ser1027Arg) n.240C>A c.3006C>A (p.Ser1002Arg) c.3048C>A (p.Ser1016Arg) c.2997C>A (p.Ser999Arg) | gnomAD v4 |
| 15 | g.86674359C= | CA2193304098 | AGBL1 | c.3144C= (p.Ser1048=) c.3081C= (p.Ser1027=) n.240C= c.3006C= (p.Ser1002=) c.3048C= (p.Ser1016=) c.2997C= (p.Ser999=) | |
| 15 | g.86674359C>G | CA393432975 | AGBL1 | c.3144C>G (p.Ser1048Arg) c.3081C>G (p.Ser1027Arg) n.240C>G c.3006C>G (p.Ser1002Arg) c.3048C>G (p.Ser1016Arg) c.2997C>G (p.Ser999Arg) | dbSNP |
| 15 | g.86674359C>T | CA492229022 | AGBL1 | c.3144C>T (p.Ser1048=) c.3081C>T (p.Ser1027=) n.240C>T c.3006C>T (p.Ser1002=) c.3048C>T (p.Ser1016=) c.2997C>T (p.Ser999=) | COSMIC |
| 15 | g.86674360T>A | CA7716367 | AGBL1 | c.3145T>A (p.Cys1049Ser) c.3082T>A (p.Cys1028Ser) n.241T>A c.3007T>A (p.Cys1003Ser) c.3049T>A (p.Cys1017Ser) c.2998T>A (p.Cys1000Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.86674360T>C | CA7716366 | AGBL1 | c.3145T>C (p.Cys1049Arg) c.3082T>C (p.Cys1028Arg) n.241T>C c.3007T>C (p.Cys1003Arg) c.3049T>C (p.Cys1017Arg) c.2998T>C (p.Cys1000Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674360T>G | CA393432976 | AGBL1 | c.3145T>G (p.Cys1049Gly) c.3082T>G (p.Cys1028Gly) n.241T>G c.3007T>G (p.Cys1003Gly) c.3049T>G (p.Cys1017Gly) c.2998T>G (p.Cys1000Gly) | |
| 15 | g.86674360T= | CA2193304100 | AGBL1 | c.3145T= (p.Cys1049=) c.3082T= (p.Cys1028=) n.241T= c.3007T= (p.Cys1003=) c.3049T= (p.Cys1017=) c.2998T= (p.Cys1000=) | |
| 15 | g.86674361G>A | CA7716369 | AGBL1 | c.3146G>A (p.Cys1049Tyr) c.3083G>A (p.Cys1028Tyr) n.242G>A c.3008G>A (p.Cys1003Tyr) c.3050G>A (p.Cys1017Tyr) c.2999G>A (p.Cys1000Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674361G>C | CA7716368 | AGBL1 | c.3146G>C (p.Cys1049Ser) c.3083G>C (p.Cys1028Ser) n.242G>C c.3008G>C (p.Cys1003Ser) c.3050G>C (p.Cys1017Ser) c.2999G>C (p.Cys1000Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674361G= | CA2193304103 | AGBL1 | c.3146G= (p.Cys1049=) c.3083G= (p.Cys1028=) n.242G= c.3008G= (p.Cys1003=) c.3050G= (p.Cys1017=) c.2999G= (p.Cys1000=) | |
| 15 | g.86674361G>T | CA393432977 | AGBL1 | c.3146G>T (p.Cys1049Phe) c.3083G>T (p.Cys1028Phe) n.242G>T c.3008G>T (p.Cys1003Phe) c.3050G>T (p.Cys1017Phe) c.2999G>T (p.Cys1000Phe) | |
| 15 | g.86674362C>A | CA393432978 | AGBL1 | c.3147C>A (p.Cys1049Ter) c.3084C>A (p.Cys1028Ter) n.243C>A c.3009C>A (p.Cys1003Ter) c.3051C>A (p.Cys1017Ter) c.3000C>A (p.Cys1000Ter) | gnomAD v4 |
| 15 | g.86674362C>G | CA393432979 | AGBL1 | c.3147C>G (p.Cys1049Trp) c.3084C>G (p.Cys1028Trp) n.243C>G c.3009C>G (p.Cys1003Trp) c.3051C>G (p.Cys1017Trp) c.3000C>G (p.Cys1000Trp) | |
| 15 | g.86674362C>T | CA492229023 | AGBL1 | c.3147C>T (p.Cys1049=) c.3084C>T (p.Cys1028=) n.243C>T c.3009C>T (p.Cys1003=) c.3051C>T (p.Cys1017=) c.3000C>T (p.Cys1000=) | gnomAD v4 |
| 15 | g.86674363A>C | CA393432980 | AGBL1 | c.3148A>C (p.Ser1050Arg) c.3085A>C (p.Ser1029Arg) n.244A>C c.3010A>C (p.Ser1004Arg) c.3052A>C (p.Ser1018Arg) c.3001A>C (p.Ser1001Arg) | |
| 15 | g.86674363A>G | CA393432981 | AGBL1 | c.3148A>G (p.Ser1050Gly) c.3085A>G (p.Ser1029Gly) n.244A>G c.3010A>G (p.Ser1004Gly) c.3052A>G (p.Ser1018Gly) c.3001A>G (p.Ser1001Gly) | |
| 15 | g.86674363A>T | CA393432982 | AGBL1 | c.3148A>T (p.Ser1050Cys) c.3085A>T (p.Ser1029Cys) n.244A>T c.3010A>T (p.Ser1004Cys) c.3052A>T (p.Ser1018Cys) c.3001A>T (p.Ser1001Cys) | |
| 15 | g.86674364G>A | CA393432983 | AGBL1 | c.3149G>A (p.Ser1050Asn) c.3086G>A (p.Ser1029Asn) n.245G>A c.3011G>A (p.Ser1004Asn) c.3053G>A (p.Ser1018Asn) c.3002G>A (p.Ser1001Asn) | COSMIC |
| 15 | g.86674364G>C | CA393432984 | AGBL1 | c.3149G>C (p.Ser1050Thr) c.3086G>C (p.Ser1029Thr) n.245G>C c.3011G>C (p.Ser1004Thr) c.3053G>C (p.Ser1018Thr) c.3002G>C (p.Ser1001Thr) | |
| 15 | g.86674364G>T | CA393432985 | AGBL1 | c.3149G>T (p.Ser1050Ile) c.3086G>T (p.Ser1029Ile) n.245G>T c.3011G>T (p.Ser1004Ile) c.3053G>T (p.Ser1018Ile) c.3002G>T (p.Ser1001Ile) | |
| 15 | g.86674365C>A | CA393432987 | AGBL1 | c.3150C>A (p.Ser1050Arg) c.3087C>A (p.Ser1029Arg) n.246C>A c.3012C>A (p.Ser1004Arg) c.3054C>A (p.Ser1018Arg) c.3003C>A (p.Ser1001Arg) | |
| 15 | g.86674365C>G | CA393432986 | AGBL1 | c.3150C>G (p.Ser1050Arg) c.3087C>G (p.Ser1029Arg) n.246C>G c.3012C>G (p.Ser1004Arg) c.3054C>G (p.Ser1018Arg) c.3003C>G (p.Ser1001Arg) | |
| 15 | g.86674365C>T | CA492229024 | AGBL1 | c.3150C>T (p.Ser1050=) c.3087C>T (p.Ser1029=) n.246C>T c.3012C>T (p.Ser1004=) c.3054C>T (p.Ser1018=) c.3003C>T (p.Ser1001=) | |
| 15 | g.86674366C>A | CA393432988 | AGBL1 | c.3151C>A (p.His1051Asn) c.3088C>A (p.His1030Asn) n.247C>A c.3013C>A (p.His1005Asn) c.3055C>A (p.His1019Asn) c.3004C>A (p.His1002Asn) | |
| 15 | g.86674366C= | CA2193304107 | AGBL1 | c.3151C= (p.His1051=) c.3088C= (p.His1030=) n.247C= c.3013C= (p.His1005=) c.3055C= (p.His1019=) c.3004C= (p.His1002=) | |
| 15 | g.86674366C>G | CA393432989 | AGBL1 | c.3151C>G (p.His1051Asp) c.3088C>G (p.His1030Asp) n.247C>G c.3013C>G (p.His1005Asp) c.3055C>G (p.His1019Asp) c.3004C>G (p.His1002Asp) | |
| 15 | g.86674366C>T | CA393432990 | AGBL1 | c.3151C>T (p.His1051Tyr) c.3088C>T (p.His1030Tyr) n.247C>T c.3013C>T (p.His1005Tyr) c.3055C>T (p.His1019Tyr) c.3004C>T (p.His1002Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674367A= | CA2193304111 | AGBL1 | c.3152A= (p.His1051=) c.3089A= (p.His1030=) n.248A= c.3014A= (p.His1005=) c.3056A= (p.His1019=) c.3005A= (p.His1002=) | |
| 15 | g.86674367A>C | CA393432991 | AGBL1 | c.3152A>C (p.His1051Pro) c.3089A>C (p.His1030Pro) n.248A>C c.3014A>C (p.His1005Pro) c.3056A>C (p.His1019Pro) c.3005A>C (p.His1002Pro) | |
| 15 | g.86674367A>G | CA393432992 | AGBL1 | c.3152A>G (p.His1051Arg) c.3089A>G (p.His1030Arg) n.248A>G c.3014A>G (p.His1005Arg) c.3056A>G (p.His1019Arg) c.3005A>G (p.His1002Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674367A>T | CA393432993 | AGBL1 | c.3152A>T (p.His1051Leu) c.3089A>T (p.His1030Leu) n.248A>T c.3014A>T (p.His1005Leu) c.3056A>T (p.His1019Leu) c.3005A>T (p.His1002Leu) | |
| 15 | g.86674368T>A | CA393432994 | AGBL1 | c.3153T>A (p.His1051Gln) c.3090T>A (p.His1030Gln) n.249T>A c.3015T>A (p.His1005Gln) c.3057T>A (p.His1019Gln) c.3006T>A (p.His1002Gln) | |
| 15 | g.86674368T>C | CA274908544 | AGBL1 | c.3153T>C (p.His1051=) c.3090T>C (p.His1030=) n.249T>C c.3015T>C (p.His1005=) c.3057T>C (p.His1019=) c.3006T>C (p.His1002=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.86674368T>G | CA393432995 | AGBL1 | c.3153T>G (p.His1051Gln) c.3090T>G (p.His1030Gln) n.249T>G c.3015T>G (p.His1005Gln) c.3057T>G (p.His1019Gln) c.3006T>G (p.His1002Gln) | |
| 15 | g.86674368T= | CA2193304115 | AGBL1 | c.3153T= (p.His1051=) c.3090T= (p.His1030=) n.249T= c.3015T= (p.His1005=) c.3057T= (p.His1019=) c.3006T= (p.His1002=) | |
| 15 | g.86674369C>A | CA393432996 | AGBL1 | c.3154C>A (p.Gln1052Lys) c.3091C>A (p.Gln1031Lys) n.250C>A c.3016C>A (p.Gln1006Lys) c.3058C>A (p.Gln1020Lys) c.3007C>A (p.Gln1003Lys) | |
| 15 | g.86674369C>G | CA393432997 | AGBL1 | c.3154C>G (p.Gln1052Glu) c.3091C>G (p.Gln1031Glu) n.250C>G c.3016C>G (p.Gln1006Glu) c.3058C>G (p.Gln1020Glu) c.3007C>G (p.Gln1003Glu) | |
| 15 | g.86674369C>T | CA393432998 | AGBL1 | c.3154C>T (p.Gln1052Ter) c.3091C>T (p.Gln1031Ter) n.250C>T c.3016C>T (p.Gln1006Ter) c.3058C>T (p.Gln1020Ter) c.3007C>T (p.Gln1003Ter) | gnomAD v4 COSMIC |
| 15 | g.86674370A>C | CA393432999 | AGBL1 | c.3155A>C (p.Gln1052Pro) c.3092A>C (p.Gln1031Pro) n.251A>C c.3017A>C (p.Gln1006Pro) c.3059A>C (p.Gln1020Pro) c.3008A>C (p.Gln1003Pro) | |
| 15 | g.86674370A>G | CA393433000 | AGBL1 | c.3155A>G (p.Gln1052Arg) c.3092A>G (p.Gln1031Arg) n.251A>G c.3017A>G (p.Gln1006Arg) c.3059A>G (p.Gln1020Arg) c.3008A>G (p.Gln1003Arg) | |
| 15 | g.86674370A>T | CA393433001 | AGBL1 | c.3155A>T (p.Gln1052Leu) c.3092A>T (p.Gln1031Leu) n.251A>T c.3017A>T (p.Gln1006Leu) c.3059A>T (p.Gln1020Leu) c.3008A>T (p.Gln1003Leu) | |
| 15 | g.86674371G>A | CA492229025 | AGBL1 | c.3156G>A (p.Gln1052=) c.3093G>A (p.Gln1031=) n.252G>A c.3018G>A (p.Gln1006=) c.3060G>A (p.Gln1020=) c.3009G>A (p.Gln1003=) | |
| 15 | g.86674371G>C | CA393433002 | AGBL1 | c.3156G>C (p.Gln1052His) c.3093G>C (p.Gln1031His) n.252G>C c.3018G>C (p.Gln1006His) c.3060G>C (p.Gln1020His) c.3009G>C (p.Gln1003His) | dbSNP |
| 15 | g.86674371G= | CA2193304117 | AGBL1 | c.3156G= (p.Gln1052=) c.3093G= (p.Gln1031=) n.252G= c.3018G= (p.Gln1006=) c.3060G= (p.Gln1020=) c.3009G= (p.Gln1003=) | |
| 15 | g.86674371G>T | CA393433003 | AGBL1 | c.3156G>T (p.Gln1052His) c.3093G>T (p.Gln1031His) n.252G>T c.3018G>T (p.Gln1006His) c.3060G>T (p.Gln1020His) c.3009G>T (p.Gln1003His) | |
| 15 | g.86674372C>A | CA274908545 | AGBL1 | c.3157C>A (p.Leu1053Ile) c.3094C>A (p.Leu1032Ile) n.253C>A c.3019C>A (p.Leu1007Ile) c.3061C>A (p.Leu1021Ile) c.3010C>A (p.Leu1004Ile) | dbSNP |
| 15 | g.86674372C= | CA2193304122 | AGBL1 | c.3157C= (p.Leu1053=) c.3094C= (p.Leu1032=) n.253C= c.3019C= (p.Leu1007=) c.3061C= (p.Leu1021=) c.3010C= (p.Leu1004=) | |
| 15 | g.86674372C>G | CA393433004 | AGBL1 | c.3157C>G (p.Leu1053Val) c.3094C>G (p.Leu1032Val) n.253C>G c.3019C>G (p.Leu1007Val) c.3061C>G (p.Leu1021Val) c.3010C>G (p.Leu1004Val) | |
| 15 | g.86674372C>T | CA393433005 | AGBL1 | c.3157C>T (p.Leu1053Phe) c.3094C>T (p.Leu1032Phe) n.253C>T c.3019C>T (p.Leu1007Phe) c.3061C>T (p.Leu1021Phe) c.3010C>T (p.Leu1004Phe) | |
| 15 | g.86674373T>A | CA393433006 | AGBL1 | c.3158T>A (p.Leu1053His) c.3095T>A (p.Leu1032His) n.254T>A c.3020T>A (p.Leu1007His) c.3062T>A (p.Leu1021His) c.3011T>A (p.Leu1004His) | gnomAD v4 |
| 15 | g.86674373T>C | CA393433007 | AGBL1 | c.3158T>C (p.Leu1053Pro) c.3095T>C (p.Leu1032Pro) n.254T>C c.3020T>C (p.Leu1007Pro) c.3062T>C (p.Leu1021Pro) c.3011T>C (p.Leu1004Pro) | gnomAD v4 |
| 15 | g.86674373T>G | CA393433008 | AGBL1 | c.3158T>G (p.Leu1053Arg) c.3095T>G (p.Leu1032Arg) n.254T>G c.3020T>G (p.Leu1007Arg) c.3062T>G (p.Leu1021Arg) c.3011T>G (p.Leu1004Arg) | |
| 15 | g.86674374C>A | CA492229027 | AGBL1 | c.3159C>A (p.Leu1053=) c.3096C>A (p.Leu1032=) n.255C>A c.3021C>A (p.Leu1007=) c.3063C>A (p.Leu1021=) c.3012C>A (p.Leu1004=) | gnomAD v4 |
| 15 | g.86674374C= | CA2193304124 | AGBL1 | c.3159C= (p.Leu1053=) c.3096C= (p.Leu1032=) n.255C= c.3021C= (p.Leu1007=) c.3063C= (p.Leu1021=) c.3012C= (p.Leu1004=) | |
| 15 | g.86674374C>G | CA492229026 | AGBL1 | c.3159C>G (p.Leu1053=) c.3096C>G (p.Leu1032=) n.255C>G c.3021C>G (p.Leu1007=) c.3063C>G (p.Leu1021=) c.3012C>G (p.Leu1004=) | dbSNP |
| 15 | g.86674374C>T | CA274908546 | AGBL1 | c.3159C>T (p.Leu1053=) c.3096C>T (p.Leu1032=) n.255C>T c.3021C>T (p.Leu1007=) c.3063C>T (p.Leu1021=) c.3012C>T (p.Leu1004=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674375C>A | CA393433009 | AGBL1 | c.3160C>A (p.Leu1054Met) c.3097C>A (p.Leu1033Met) n.256C>A c.3022C>A (p.Leu1008Met) c.3064C>A (p.Leu1022Met) c.3013C>A (p.Leu1005Met) | |
| 15 | g.86674375C>G | CA393433010 | AGBL1 | c.3160C>G (p.Leu1054Val) c.3097C>G (p.Leu1033Val) n.256C>G c.3022C>G (p.Leu1008Val) c.3064C>G (p.Leu1022Val) c.3013C>G (p.Leu1005Val) | |
| 15 | g.86674375C>T | CA492229028 | AGBL1 | c.3160C>T (p.Leu1054=) c.3097C>T (p.Leu1033=) n.256C>T c.3022C>T (p.Leu1008=) c.3064C>T (p.Leu1022=) c.3013C>T (p.Leu1005=) | |
| 15 | g.86674376T>A | CA393433011 | AGBL1 | c.3161T>A (p.Leu1054Gln) c.3098T>A (p.Leu1033Gln) n.257T>A c.3023T>A (p.Leu1008Gln) c.3065T>A (p.Leu1022Gln) c.3014T>A (p.Leu1005Gln) | |
| 15 | g.86674376T>C | CA274908547 | AGBL1 | c.3161T>C (p.Leu1054Pro) c.3098T>C (p.Leu1033Pro) n.257T>C c.3023T>C (p.Leu1008Pro) c.3065T>C (p.Leu1022Pro) c.3014T>C (p.Leu1005Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674376T>G | CA393433012 | AGBL1 | c.3161T>G (p.Leu1054Arg) c.3098T>G (p.Leu1033Arg) n.257T>G c.3023T>G (p.Leu1008Arg) c.3065T>G (p.Leu1022Arg) c.3014T>G (p.Leu1005Arg) | |
| 15 | g.86674376T= | CA2193304130 | AGBL1 | c.3161T= (p.Leu1054=) c.3098T= (p.Leu1033=) n.257T= c.3023T= (p.Leu1008=) c.3065T= (p.Leu1022=) c.3014T= (p.Leu1005=) | |
| 15 | g.86674377G>A | CA492229029 | AGBL1 | c.3162G>A (p.Leu1054=) c.3099G>A (p.Leu1033=) n.258G>A c.3024G>A (p.Leu1008=) c.3066G>A (p.Leu1022=) c.3015G>A (p.Leu1005=) | dbSNP |
| 15 | g.86674377G>C | CA492229030 | AGBL1 | c.3162G>C (p.Leu1054=) c.3099G>C (p.Leu1033=) n.258G>C c.3024G>C (p.Leu1008=) c.3066G>C (p.Leu1022=) c.3015G>C (p.Leu1005=) | |
| 15 | g.86674377G= | CA2193304134 | AGBL1 | c.3162G= (p.Leu1054=) c.3099G= (p.Leu1033=) n.258G= c.3024G= (p.Leu1008=) c.3066G= (p.Leu1022=) c.3015G= (p.Leu1005=) | |
| 15 | g.86674377G>T | CA492229031 | AGBL1 | c.3162G>T (p.Leu1054=) c.3099G>T (p.Leu1033=) n.258G>T c.3024G>T (p.Leu1008=) c.3066G>T (p.Leu1022=) c.3015G>T (p.Leu1005=) | |
| 15 | g.86674378G>A | CA393433015 | AGBL1 | c.3163G>A (p.Ala1055Thr) c.3100G>A (p.Ala1034Thr) n.259G>A c.3025G>A (p.Ala1009Thr) c.3067G>A (p.Ala1023Thr) c.3016G>A (p.Ala1006Thr) | dbSNP gnomAD v4 |
| 15 | g.86674378G>C | CA393433014 | AGBL1 | c.3163G>C (p.Ala1055Pro) c.3100G>C (p.Ala1034Pro) n.259G>C c.3025G>C (p.Ala1009Pro) c.3067G>C (p.Ala1023Pro) c.3016G>C (p.Ala1006Pro) | |
| 15 | g.86674378G= | CA2193304136 | AGBL1 | c.3163G= (p.Ala1055=) c.3100G= (p.Ala1034=) n.259G= c.3025G= (p.Ala1009=) c.3067G= (p.Ala1023=) c.3016G= (p.Ala1006=) | |
| 15 | g.86674378G>T | CA393433013 | AGBL1 | c.3163G>T (p.Ala1055Ser) c.3100G>T (p.Ala1034Ser) n.259G>T c.3025G>T (p.Ala1009Ser) c.3067G>T (p.Ala1023Ser) c.3016G>T (p.Ala1006Ser) | |
| 15 | g.86674379C>A | CA393433016 | AGBL1 | c.3164C>A (p.Ala1055Asp) c.3101C>A (p.Ala1034Asp) n.260C>A c.3026C>A (p.Ala1009Asp) c.3068C>A (p.Ala1023Asp) c.3017C>A (p.Ala1006Asp) | |
| 15 | g.86674379C>G | CA393433018 | AGBL1 | c.3164C>G (p.Ala1055Gly) c.3101C>G (p.Ala1034Gly) n.260C>G c.3026C>G (p.Ala1009Gly) c.3068C>G (p.Ala1023Gly) c.3017C>G (p.Ala1006Gly) | |
| 15 | g.86674379C>T | CA393433017 | AGBL1 | c.3164C>T (p.Ala1055Val) c.3101C>T (p.Ala1034Val) n.260C>T c.3026C>T (p.Ala1009Val) c.3068C>T (p.Ala1023Val) c.3017C>T (p.Ala1006Val) | gnomAD v4 |
| 15 | g.86674380T>A | CA492229032 | AGBL1 | c.3165T>A (p.Ala1055=) c.3102T>A (p.Ala1034=) n.261T>A c.3027T>A (p.Ala1009=) c.3069T>A (p.Ala1023=) c.3018T>A (p.Ala1006=) | |
| 15 | g.86674380T>C | CA492229034 | AGBL1 | c.3165T>C (p.Ala1055=) c.3102T>C (p.Ala1034=) n.261T>C c.3027T>C (p.Ala1009=) c.3069T>C (p.Ala1023=) c.3018T>C (p.Ala1006=) | |
| 15 | g.86674380T>G | CA492229033 | AGBL1 | c.3165T>G (p.Ala1055=) c.3102T>G (p.Ala1034=) n.261T>G c.3027T>G (p.Ala1009=) c.3069T>G (p.Ala1023=) c.3018T>G (p.Ala1006=) | |
| 15 | g.86674381C>A | CA393433019 | AGBL1 | c.3166C>A (p.Gln1056Lys) c.3103C>A (p.Gln1035Lys) n.262C>A c.3028C>A (p.Gln1010Lys) c.3070C>A (p.Gln1024Lys) c.3019C>A (p.Gln1007Lys) | |
| 15 | g.86674381C= | CA2193304147 | AGBL1 | c.3166C= (p.Gln1056=) c.3103C= (p.Gln1035=) n.262C= c.3028C= (p.Gln1010=) c.3070C= (p.Gln1024=) c.3019C= (p.Gln1007=) | |
| 15 | g.86674381C>G | CA7716370 | AGBL1 | c.3166C>G (p.Gln1056Glu) c.3103C>G (p.Gln1035Glu) n.262C>G c.3028C>G (p.Gln1010Glu) c.3070C>G (p.Gln1024Glu) c.3019C>G (p.Gln1007Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674381C>T | CA7716371 | AGBL1 | c.3166C>T (p.Gln1056Ter) c.3103C>T (p.Gln1035Ter) n.262C>T c.3028C>T (p.Gln1010Ter) c.3070C>T (p.Gln1024Ter) c.3019C>T (p.Gln1007Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674382A= | CA2193304151 | AGBL1 | c.3167A= (p.Gln1056=) c.3104A= (p.Gln1035=) n.263A= c.3029A= (p.Gln1010=) c.3071A= (p.Gln1024=) c.3020A= (p.Gln1007=) | |
| 15 | g.86674382A>C | CA7716373 | AGBL1 | c.3167A>C (p.Gln1056Pro) c.3104A>C (p.Gln1035Pro) n.263A>C c.3029A>C (p.Gln1010Pro) c.3071A>C (p.Gln1024Pro) c.3020A>C (p.Gln1007Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.86674382A>G | CA7716372 | AGBL1 | c.3167A>G (p.Gln1056Arg) c.3104A>G (p.Gln1035Arg) n.263A>G c.3029A>G (p.Gln1010Arg) c.3071A>G (p.Gln1024Arg) c.3020A>G (p.Gln1007Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674382A>T | CA7716374 | AGBL1 | c.3167A>T (p.Gln1056Leu) c.3104A>T (p.Gln1035Leu) n.263A>T c.3029A>T (p.Gln1010Leu) c.3071A>T (p.Gln1024Leu) c.3020A>T (p.Gln1007Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674383A>C | CA393433020 | AGBL1 | c.3168A>C (p.Gln1056His) c.3105A>C (p.Gln1035His) n.264A>C c.3030A>C (p.Gln1010His) c.3072A>C (p.Gln1024His) c.3021A>C (p.Gln1007His) | |
| 15 | g.86674383A>G | CA492229035 | AGBL1 | c.3168A>G (p.Gln1056=) c.3105A>G (p.Gln1035=) n.264A>G c.3030A>G (p.Gln1010=) c.3072A>G (p.Gln1024=) c.3021A>G (p.Gln1007=) | |
| 15 | g.86674383A>T | CA393433021 | AGBL1 | c.3168A>T (p.Gln1056His) c.3105A>T (p.Gln1035His) n.264A>T c.3030A>T (p.Gln1010His) c.3072A>T (p.Gln1024His) c.3021A>T (p.Gln1007His) | |
| 15 | g.86674384G>A | CA393433024 | AGBL1 | c.3169G>A (p.Ala1057Thr) c.3106G>A (p.Ala1036Thr) n.265G>A c.3031G>A (p.Ala1011Thr) c.3073G>A (p.Ala1025Thr) c.3022G>A (p.Ala1008Thr) | |
| 15 | g.86674384G>C | CA393433023 | AGBL1 | c.3169G>C (p.Ala1057Pro) c.3106G>C (p.Ala1036Pro) n.265G>C c.3031G>C (p.Ala1011Pro) c.3073G>C (p.Ala1025Pro) c.3022G>C (p.Ala1008Pro) | |
| 15 | g.86674384G= | CA2193304157 | AGBL1 | c.3169G= (p.Ala1057=) c.3106G= (p.Ala1036=) n.265G= c.3031G= (p.Ala1011=) c.3073G= (p.Ala1025=) c.3022G= (p.Ala1008=) | |
| 15 | g.86674384G>T | CA393433022 | AGBL1 | c.3169G>T (p.Ala1057Ser) c.3106G>T (p.Ala1036Ser) n.265G>T c.3031G>T (p.Ala1011Ser) c.3073G>T (p.Ala1025Ser) c.3022G>T (p.Ala1008Ser) | dbSNP |
| 15 | g.86674385C>A | CA393433025 | AGBL1 | c.3170C>A (p.Ala1057Asp) c.3107C>A (p.Ala1036Asp) n.266C>A c.3032C>A (p.Ala1011Asp) c.3074C>A (p.Ala1025Asp) c.3023C>A (p.Ala1008Asp) | |
| 15 | g.86674385C>G | CA393433026 | AGBL1 | c.3170C>G (p.Ala1057Gly) c.3107C>G (p.Ala1036Gly) n.266C>G c.3032C>G (p.Ala1011Gly) c.3074C>G (p.Ala1025Gly) c.3023C>G (p.Ala1008Gly) | |
| 15 | g.86674385C>T | CA393433027 | AGBL1 | c.3170C>T (p.Ala1057Val) c.3107C>T (p.Ala1036Val) n.266C>T c.3032C>T (p.Ala1011Val) c.3074C>T (p.Ala1025Val) c.3023C>T (p.Ala1008Val) | gnomAD v4 |
| 15 | g.86674386T>A | CA492229036 | AGBL1 | c.3171T>A (p.Ala1057=) c.3108T>A (p.Ala1036=) n.267T>A c.3033T>A (p.Ala1011=) c.3075T>A (p.Ala1025=) c.3024T>A (p.Ala1008=) | |
| 15 | g.86674386T>C | CA492229037 | AGBL1 | c.3171T>C (p.Ala1057=) c.3108T>C (p.Ala1036=) n.267T>C c.3033T>C (p.Ala1011=) c.3075T>C (p.Ala1025=) c.3024T>C (p.Ala1008=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674386T>G | CA492229038 | AGBL1 | c.3171T>G (p.Ala1057=) c.3108T>G (p.Ala1036=) n.267T>G c.3033T>G (p.Ala1011=) c.3075T>G (p.Ala1025=) c.3024T>G (p.Ala1008=) | |
| 15 | g.86674386T= | CA2193304160 | AGBL1 | c.3171T= (p.Ala1057=) c.3108T= (p.Ala1036=) n.267T= c.3033T= (p.Ala1011=) c.3075T= (p.Ala1025=) c.3024T= (p.Ala1008=) | |
| 15 | g.86674387G>A | CA393433028 | AGBL1 | c.3172G>A (p.Ala1058Thr) c.3109G>A (p.Ala1037Thr) n.268G>A c.3034G>A (p.Ala1012Thr) c.3076G>A (p.Ala1026Thr) c.3025G>A (p.Ala1009Thr) | |
| 15 | g.86674387G>C | CA393433029 | AGBL1 | c.3172G>C (p.Ala1058Pro) c.3109G>C (p.Ala1037Pro) n.268G>C c.3034G>C (p.Ala1012Pro) c.3076G>C (p.Ala1026Pro) c.3025G>C (p.Ala1009Pro) | |
| 15 | g.86674387G>T | CA393433030 | AGBL1 | c.3172G>T (p.Ala1058Ser) c.3109G>T (p.Ala1037Ser) n.268G>T c.3034G>T (p.Ala1012Ser) c.3076G>T (p.Ala1026Ser) c.3025G>T (p.Ala1009Ser) | |
| 15 | g.86674388C>A | CA393433031 | AGBL1 | c.3173C>A (p.Ala1058Glu) c.3110C>A (p.Ala1037Glu) n.269C>A c.3035C>A (p.Ala1012Glu) c.3077C>A (p.Ala1026Glu) c.3026C>A (p.Ala1009Glu) | |
| 15 | g.86674388C>G | CA393433033 | AGBL1 | c.3173C>G (p.Ala1058Gly) c.3110C>G (p.Ala1037Gly) n.269C>G c.3035C>G (p.Ala1012Gly) c.3077C>G (p.Ala1026Gly) c.3026C>G (p.Ala1009Gly) | |
| 15 | g.86674388C>T | CA393433032 | AGBL1 | c.3173C>T (p.Ala1058Val) c.3110C>T (p.Ala1037Val) n.269C>T c.3035C>T (p.Ala1012Val) c.3077C>T (p.Ala1026Val) c.3026C>T (p.Ala1009Val) | gnomAD v4 |
| 15 | g.86674389A>C | CA492229039 | AGBL1 | c.3174A>C (p.Ala1058=) c.3111A>C (p.Ala1037=) n.270A>C c.3036A>C (p.Ala1012=) c.3078A>C (p.Ala1026=) c.3027A>C (p.Ala1009=) | |
| 15 | g.86674389A>G | CA492229040 | AGBL1 | c.3174A>G (p.Ala1058=) c.3111A>G (p.Ala1037=) n.270A>G c.3036A>G (p.Ala1012=) c.3078A>G (p.Ala1026=) c.3027A>G (p.Ala1009=) | |
| 15 | g.86674389A>T | CA492229041 | AGBL1 | c.3174A>T (p.Ala1058=) c.3111A>T (p.Ala1037=) n.270A>T c.3036A>T (p.Ala1012=) c.3078A>T (p.Ala1026=) c.3027A>T (p.Ala1009=) | |
| 15 | g.86674390A>C | CA393433034 | AGBL1 | c.3175A>C (p.Thr1059Pro) c.3112A>C (p.Thr1038Pro) n.271A>C c.3037A>C (p.Thr1013Pro) c.3079A>C (p.Thr1027Pro) c.3028A>C (p.Thr1010Pro) | |
| 15 | g.86674390A>G | CA393433035 | AGBL1 | c.3175A>G (p.Thr1059Ala) c.3112A>G (p.Thr1038Ala) n.271A>G c.3037A>G (p.Thr1013Ala) c.3079A>G (p.Thr1027Ala) c.3028A>G (p.Thr1010Ala) | |
| 15 | g.86674390A>T | CA393433036 | AGBL1 | c.3175A>T (p.Thr1059Ser) c.3112A>T (p.Thr1038Ser) n.271A>T c.3037A>T (p.Thr1013Ser) c.3079A>T (p.Thr1027Ser) c.3028A>T (p.Thr1010Ser) | |
| 15 | g.86674391C>A | CA393433037 | AGBL1 | c.3176C>A (p.Thr1059Asn) c.3113C>A (p.Thr1038Asn) n.272C>A c.3038C>A (p.Thr1013Asn) c.3080C>A (p.Thr1027Asn) c.3029C>A (p.Thr1010Asn) | |
| 15 | g.86674391C= | CA2193304162 | AGBL1 | c.3176C= (p.Thr1059=) c.3113C= (p.Thr1038=) n.272C= c.3038C= (p.Thr1013=) c.3080C= (p.Thr1027=) c.3029C= (p.Thr1010=) | |
| 15 | g.86674391C>G | CA393433038 | AGBL1 | c.3176C>G (p.Thr1059Ser) c.3113C>G (p.Thr1038Ser) n.272C>G c.3038C>G (p.Thr1013Ser) c.3080C>G (p.Thr1027Ser) c.3029C>G (p.Thr1010Ser) | |
| 15 | g.86674391C>T | CA393433039 | AGBL1 | c.3176C>T (p.Thr1059Ile) c.3113C>T (p.Thr1038Ile) n.272C>T c.3038C>T (p.Thr1013Ile) c.3080C>T (p.Thr1027Ile) c.3029C>T (p.Thr1010Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.86674393_86674394del | CA2575824434 | AGBL1 | c.3178_3179del (p.Leu1060AlafsTer4) c.3115_3116del (p.Leu1039AlafsTer4) n.274_275del c.3040_3041del (p.Leu1014AlafsTer4) c.3082_3083del (p.Leu1028AlafsTer4) c.3031_3032del (p.Leu1011AlafsTer4) | |
| 15 | g.86674392T>A | CA492229042 | AGBL1 | c.3177T>A (p.Thr1059=) c.3114T>A (p.Thr1038=) n.273T>A c.3039T>A (p.Thr1013=) c.3081T>A (p.Thr1027=) c.3030T>A (p.Thr1010=) | |
| 15 | g.86674392T>C | CA492229043 | AGBL1 | c.3177T>C (p.Thr1059=) c.3114T>C (p.Thr1038=) n.273T>C c.3039T>C (p.Thr1013=) c.3081T>C (p.Thr1027=) c.3030T>C (p.Thr1010=) | dbSNP gnomAD v4 |
| 15 | g.86674392T>G | CA492229044 | AGBL1 | c.3177T>G (p.Thr1059=) c.3114T>G (p.Thr1038=) n.273T>G c.3039T>G (p.Thr1013=) c.3081T>G (p.Thr1027=) c.3030T>G (p.Thr1010=) | |
| 15 | g.86674392T= | CA2193304166 | AGBL1 | c.3177T= (p.Thr1059=) c.3114T= (p.Thr1038=) n.273T= c.3039T= (p.Thr1013=) c.3081T= (p.Thr1027=) c.3030T= (p.Thr1010=) | |
| 15 | g.86674393C>A | CA393433040 | AGBL1 | c.3178C>A (p.Leu1060Met) c.3115C>A (p.Leu1039Met) n.274C>A c.3040C>A (p.Leu1014Met) c.3082C>A (p.Leu1028Met) c.3031C>A (p.Leu1011Met) | |
| 15 | g.86674393C= | CA2193304169 | AGBL1 | c.3178C= (p.Leu1060=) c.3115C= (p.Leu1039=) n.274C= c.3040C= (p.Leu1014=) c.3082C= (p.Leu1028=) c.3031C= (p.Leu1011=) | |
| 15 | g.86674393C>G | CA274908548 | AGBL1 | c.3178C>G (p.Leu1060Val) c.3115C>G (p.Leu1039Val) n.274C>G c.3040C>G (p.Leu1014Val) c.3082C>G (p.Leu1028Val) c.3031C>G (p.Leu1011Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674393C>T | CA492229045 | AGBL1 | c.3178C>T (p.Leu1060=) c.3115C>T (p.Leu1039=) n.274C>T c.3040C>T (p.Leu1014=) c.3082C>T (p.Leu1028=) c.3031C>T (p.Leu1011=) | dbSNP |
| 15 | g.86674394T>A | CA393433041 | AGBL1 | c.3179T>A (p.Leu1060Gln) c.3116T>A (p.Leu1039Gln) n.275T>A c.3041T>A (p.Leu1014Gln) c.3083T>A (p.Leu1028Gln) c.3032T>A (p.Leu1011Gln) | |
| 15 | g.86674394T>C | CA393433042 | AGBL1 | c.3179T>C (p.Leu1060Pro) c.3116T>C (p.Leu1039Pro) n.275T>C c.3041T>C (p.Leu1014Pro) c.3083T>C (p.Leu1028Pro) c.3032T>C (p.Leu1011Pro) | |
| 15 | g.86674394T>G | CA393433043 | AGBL1 | c.3179T>G (p.Leu1060Arg) c.3116T>G (p.Leu1039Arg) n.275T>G c.3041T>G (p.Leu1014Arg) c.3083T>G (p.Leu1028Arg) c.3032T>G (p.Leu1011Arg) | |
| 15 | g.86674395G>A | CA274908549 | AGBL1 | c.3180G>A (p.Leu1060=) c.3117G>A (p.Leu1039=) n.276G>A c.3042G>A (p.Leu1014=) c.3084G>A (p.Leu1028=) c.3033G>A (p.Leu1011=) | dbSNP gnomAD v4 |
| 15 | g.86674395G>C | CA492229046 | AGBL1 | c.3180G>C (p.Leu1060=) c.3117G>C (p.Leu1039=) n.276G>C c.3042G>C (p.Leu1014=) c.3084G>C (p.Leu1028=) c.3033G>C (p.Leu1011=) | |
| 15 | g.86674395G= | CA2193304171 | AGBL1 | c.3180G= (p.Leu1060=) c.3117G= (p.Leu1039=) n.276G= c.3042G= (p.Leu1014=) c.3084G= (p.Leu1028=) c.3033G= (p.Leu1011=) | |
| 15 | g.86674395G>T | CA492229047 | AGBL1 | c.3180G>T (p.Leu1060=) c.3117G>T (p.Leu1039=) n.276G>T c.3042G>T (p.Leu1014=) c.3084G>T (p.Leu1028=) c.3033G>T (p.Leu1011=) | |
| 15 | g.86674396C>A | CA393433044 | AGBL1 | c.3181C>A (p.Leu1061Met) c.3118C>A (p.Leu1040Met) n.277C>A c.3043C>A (p.Leu1015Met) c.3085C>A (p.Leu1029Met) c.3034C>A (p.Leu1012Met) | |
| 15 | g.86674396C= | CA2193304175 | AGBL1 | c.3181C= (p.Leu1061=) c.3118C= (p.Leu1040=) n.277C= c.3043C= (p.Leu1015=) c.3085C= (p.Leu1029=) c.3034C= (p.Leu1012=) | |
| 15 | g.86674396C>G | CA393433045 | AGBL1 | c.3181C>G (p.Leu1061Val) c.3118C>G (p.Leu1040Val) n.277C>G c.3043C>G (p.Leu1015Val) c.3085C>G (p.Leu1029Val) c.3034C>G (p.Leu1012Val) | |
| 15 | g.86674396C>T | CA7716375 | AGBL1 | c.3181C>T (p.Leu1061=) c.3118C>T (p.Leu1040=) n.277C>T c.3043C>T (p.Leu1015=) c.3085C>T (p.Leu1029=) c.3034C>T (p.Leu1012=) | dbSNP ExAC COSMIC COSMIC |
| 15 | g.86674397T>A | CA393433046 | AGBL1 | c.3182T>A (p.Leu1061Gln) c.3119T>A (p.Leu1040Gln) n.278T>A c.3044T>A (p.Leu1015Gln) c.3086T>A (p.Leu1029Gln) c.3035T>A (p.Leu1012Gln) | |
| 15 | g.86674397T>C | CA393433047 | AGBL1 | c.3182T>C (p.Leu1061Pro) c.3119T>C (p.Leu1040Pro) n.278T>C c.3044T>C (p.Leu1015Pro) c.3086T>C (p.Leu1029Pro) c.3035T>C (p.Leu1012Pro) | gnomAD v4 |
| 15 | g.86674397T>G | CA393433048 | AGBL1 | c.3182T>G (p.Leu1061Arg) c.3119T>G (p.Leu1040Arg) n.278T>G c.3044T>G (p.Leu1015Arg) c.3086T>G (p.Leu1029Arg) c.3035T>G (p.Leu1012Arg) | |
| 15 | g.86674398G>A | CA492229048 | AGBL1 | c.3183G>A (p.Leu1061=) c.3120G>A (p.Leu1040=) n.279G>A c.3045G>A (p.Leu1015=) c.3087G>A (p.Leu1029=) c.3036G>A (p.Leu1012=) | |
| 15 | g.86674398G>C | CA492229050 | AGBL1 | c.3183G>C (p.Leu1061=) c.3120G>C (p.Leu1040=) n.279G>C c.3045G>C (p.Leu1015=) c.3087G>C (p.Leu1029=) c.3036G>C (p.Leu1012=) | |
| 15 | g.86674398G>T | CA492229049 | AGBL1 | c.3183G>T (p.Leu1061=) c.3120G>T (p.Leu1040=) n.279G>T c.3045G>T (p.Leu1015=) c.3087G>T (p.Leu1029=) c.3036G>T (p.Leu1012=) | COSMIC COSMIC COSMIC |
| 15 | g.86674399A>C | CA393433049 | AGBL1 | c.3184A>C (p.Ser1062Arg) c.3121A>C (p.Ser1041Arg) n.280A>C c.3046A>C (p.Ser1016Arg) c.3088A>C (p.Ser1030Arg) c.3037A>C (p.Ser1013Arg) | |
| 15 | g.86674399A>G | CA393433050 | AGBL1 | c.3184A>G (p.Ser1062Gly) c.3121A>G (p.Ser1041Gly) n.280A>G c.3046A>G (p.Ser1016Gly) c.3088A>G (p.Ser1030Gly) c.3037A>G (p.Ser1013Gly) | |
| 15 | g.86674399A>T | CA393433051 | AGBL1 | c.3184A>T (p.Ser1062Cys) c.3121A>T (p.Ser1041Cys) n.280A>T c.3046A>T (p.Ser1016Cys) c.3088A>T (p.Ser1030Cys) c.3037A>T (p.Ser1013Cys) | |
| 15 | g.86674400G>A | CA393433052 | AGBL1 | c.3185G>A (p.Ser1062Asn) c.3122G>A (p.Ser1041Asn) n.281G>A c.3047G>A (p.Ser1016Asn) c.3089G>A (p.Ser1030Asn) c.3038G>A (p.Ser1013Asn) | |
| 15 | g.86674400G>C | CA7716376 | AGBL1 | c.3185G>C (p.Ser1062Thr) c.3122G>C (p.Ser1041Thr) n.281G>C c.3047G>C (p.Ser1016Thr) c.3089G>C (p.Ser1030Thr) c.3038G>C (p.Ser1013Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674400G= | CA2193304178 | AGBL1 | c.3185G= (p.Ser1062=) c.3122G= (p.Ser1041=) n.281G= c.3047G= (p.Ser1016=) c.3089G= (p.Ser1030=) c.3038G= (p.Ser1013=) | |
| 15 | g.86674400G>T | CA393433053 | AGBL1 | c.3185G>T (p.Ser1062Ile) c.3122G>T (p.Ser1041Ile) n.281G>T c.3047G>T (p.Ser1016Ile) c.3089G>T (p.Ser1030Ile) c.3038G>T (p.Ser1013Ile) | |
| 15 | g.86674401T>A | CA393433054 | AGBL1 | c.3186T>A (p.Ser1062Arg) c.3123T>A (p.Ser1041Arg) n.282T>A c.3048T>A (p.Ser1016Arg) c.3090T>A (p.Ser1030Arg) c.3039T>A (p.Ser1013Arg) | |
| 15 | g.86674401T>C | CA492229051 | AGBL1 | c.3186T>C (p.Ser1062=) c.3123T>C (p.Ser1041=) n.282T>C c.3048T>C (p.Ser1016=) c.3090T>C (p.Ser1030=) c.3039T>C (p.Ser1013=) | |
| 15 | g.86674401T>G | CA7716377 | AGBL1 | c.3186T>G (p.Ser1062Arg) c.3123T>G (p.Ser1041Arg) n.282T>G c.3048T>G (p.Ser1016Arg) c.3090T>G (p.Ser1030Arg) c.3039T>G (p.Ser1013Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.86674401T= | CA2193304180 | AGBL1 | c.3186T= (p.Ser1062=) c.3123T= (p.Ser1041=) n.282T= c.3048T= (p.Ser1016=) c.3090T= (p.Ser1030=) c.3039T= (p.Ser1013=) | |
| 15 | g.86674402G>A | CA393433057 | AGBL1 | c.3187G>A (p.Ala1063Thr) c.3124G>A (p.Ala1042Thr) n.283G>A c.3049G>A (p.Ala1017Thr) c.3091G>A (p.Ala1031Thr) c.3040G>A (p.Ala1014Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674402G>C | CA393433056 | AGBL1 | c.3187G>C (p.Ala1063Pro) c.3124G>C (p.Ala1042Pro) n.283G>C c.3049G>C (p.Ala1017Pro) c.3091G>C (p.Ala1031Pro) c.3040G>C (p.Ala1014Pro) | |
| 15 | g.86674402G>T | CA393433055 | AGBL1 | c.3187G>T (p.Ala1063Ser) c.3124G>T (p.Ala1042Ser) n.283G>T c.3049G>T (p.Ala1017Ser) c.3091G>T (p.Ala1031Ser) c.3040G>T (p.Ala1014Ser) | |
| 15 | g.86674403C>A | CA393433058 | AGBL1 | c.3188C>A (p.Ala1063Asp) c.3125C>A (p.Ala1042Asp) n.284C>A c.3050C>A (p.Ala1017Asp) c.3092C>A (p.Ala1031Asp) c.3041C>A (p.Ala1014Asp) | |
| 15 | g.86674403C= | CA2193304184 | AGBL1 | c.3188C= (p.Ala1063=) c.3125C= (p.Ala1042=) n.284C= c.3050C= (p.Ala1017=) c.3092C= (p.Ala1031=) c.3041C= (p.Ala1014=) | |
| 15 | g.86674403C>G | CA7716378 | AGBL1 | c.3188C>G (p.Ala1063Gly) c.3125C>G (p.Ala1042Gly) n.284C>G c.3050C>G (p.Ala1017Gly) c.3092C>G (p.Ala1031Gly) c.3041C>G (p.Ala1014Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674403C>T | CA393433059 | AGBL1 | c.3188C>T (p.Ala1063Val) c.3125C>T (p.Ala1042Val) n.284C>T c.3050C>T (p.Ala1017Val) c.3092C>T (p.Ala1031Val) c.3041C>T (p.Ala1014Val) | |
| 15 | g.86674404T>A | CA492229052 | AGBL1 | c.3189T>A (p.Ala1063=) c.3126T>A (p.Ala1042=) n.285T>A c.3051T>A (p.Ala1017=) c.3093T>A (p.Ala1031=) c.3042T>A (p.Ala1014=) | |
| 15 | g.86674404T>C | CA492229053 | AGBL1 | c.3189T>C (p.Ala1063=) c.3126T>C (p.Ala1042=) n.285T>C c.3051T>C (p.Ala1017=) c.3093T>C (p.Ala1031=) c.3042T>C (p.Ala1014=) | |
| 15 | g.86674404T>G | CA492229054 | AGBL1 | c.3189T>G (p.Ala1063=) c.3126T>G (p.Ala1042=) n.285T>G c.3051T>G (p.Ala1017=) c.3093T>G (p.Ala1031=) c.3042T>G (p.Ala1014=) | |
| 15 | g.86674405G>A | CA393433060 | AGBL1 | c.3190G>A (p.Glu1064Lys) c.3127G>A (p.Glu1043Lys) n.286G>A c.3052G>A (p.Glu1018Lys) c.3094G>A (p.Glu1032Lys) c.3043G>A (p.Glu1015Lys) | gnomAD v4 |
| 15 | g.86674405G>C | CA393433061 | AGBL1 | c.3190G>C (p.Glu1064Gln) c.3127G>C (p.Glu1043Gln) n.286G>C c.3052G>C (p.Glu1018Gln) c.3094G>C (p.Glu1032Gln) c.3043G>C (p.Glu1015Gln) | |
| 15 | g.86674405G>T | CA393433062 | AGBL1 | c.3190G>T (p.Glu1064Ter) c.3127G>T (p.Glu1043Ter) n.286G>T c.3052G>T (p.Glu1018Ter) c.3094G>T (p.Glu1032Ter) c.3043G>T (p.Glu1015Ter) | |
| 15 | g.86674406A>C | CA393433063 | AGBL1 | c.3191A>C (p.Glu1064Ala) c.3128A>C (p.Glu1043Ala) n.287A>C c.3053A>C (p.Glu1018Ala) c.3095A>C (p.Glu1032Ala) c.3044A>C (p.Glu1015Ala) | |
| 15 | g.86674406A>G | CA393433064 | AGBL1 | c.3191A>G (p.Glu1064Gly) c.3128A>G (p.Glu1043Gly) n.287A>G c.3053A>G (p.Glu1018Gly) c.3095A>G (p.Glu1032Gly) c.3044A>G (p.Glu1015Gly) | |
| 15 | g.86674406A>T | CA393433065 | AGBL1 | c.3191A>T (p.Glu1064Val) c.3128A>T (p.Glu1043Val) n.287A>T c.3053A>T (p.Glu1018Val) c.3095A>T (p.Glu1032Val) c.3044A>T (p.Glu1015Val) | |
| 15 | g.86674407G>A | CA492229055 | AGBL1 | c.3192G>A (p.Glu1064=) c.3129G>A (p.Glu1043=) n.288G>A c.3054G>A (p.Glu1018=) c.3096G>A (p.Glu1032=) c.3045G>A (p.Glu1015=) | dbSNP |
| 15 | g.86674407G>C | CA393433066 | AGBL1 | c.3192G>C (p.Glu1064Asp) c.3129G>C (p.Glu1043Asp) n.288G>C c.3054G>C (p.Glu1018Asp) c.3096G>C (p.Glu1032Asp) c.3045G>C (p.Glu1015Asp) | |
| 15 | g.86674407G= | CA2193304186 | AGBL1 | c.3192G= (p.Glu1064=) c.3129G= (p.Glu1043=) n.288G= c.3054G= (p.Glu1018=) c.3096G= (p.Glu1032=) c.3045G= (p.Glu1015=) | |
| 15 | g.86674407G>T | CA393433067 | AGBL1 | c.3192G>T (p.Glu1064Asp) c.3129G>T (p.Glu1043Asp) n.288G>T c.3054G>T (p.Glu1018Asp) c.3096G>T (p.Glu1032Asp) c.3045G>T (p.Glu1015Asp) | |
| 15 | g.86674408G>A | CA393433069 | AGBL1 | c.3193G>A (p.Glu1065Lys) c.3130G>A (p.Glu1044Lys) n.289G>A c.3055G>A (p.Glu1019Lys) c.3097G>A (p.Glu1033Lys) c.3046G>A (p.Glu1016Lys) | gnomAD v4 |
| 15 | g.86674408G>C | CA393433068 | AGBL1 | c.3193G>C (p.Glu1065Gln) c.3130G>C (p.Glu1044Gln) n.289G>C c.3055G>C (p.Glu1019Gln) c.3097G>C (p.Glu1033Gln) c.3046G>C (p.Glu1016Gln) | |
| 15 | g.86674408G= | CA2193304188 | AGBL1 | c.3193G= (p.Glu1065=) c.3130G= (p.Glu1044=) n.289G= c.3055G= (p.Glu1019=) c.3097G= (p.Glu1033=) c.3046G= (p.Glu1016=) | |
| 15 | g.86674408G>T | CA7716379 | AGBL1 | c.3193G>T (p.Glu1065Ter) c.3130G>T (p.Glu1044Ter) n.289G>T c.3055G>T (p.Glu1019Ter) c.3097G>T (p.Glu1033Ter) c.3046G>T (p.Glu1016Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674409_86674414del | CA2630169408 | AGBL1 | c.3194_3199del (p.Glu1065_Asp1066del) c.3131_3136del (p.Glu1044_Asp1045del) n.290_295del c.3056_3061del (p.Glu1019_Asp1020del) c.3098_3103del (p.Glu1033_Asp1034del) c.3047_3052del (p.Glu1016_Asp1017del) | gnomAD v4 |
| 15 | g.86674409A= | CA2193304191 | AGBL1 | c.3194A= (p.Glu1065=) c.3131A= (p.Glu1044=) n.290A= c.3056A= (p.Glu1019=) c.3098A= (p.Glu1033=) c.3047A= (p.Glu1016=) | |
| 15 | g.86674409A>C | CA7716380 | AGBL1 | c.3194A>C (p.Glu1065Ala) c.3131A>C (p.Glu1044Ala) n.290A>C c.3056A>C (p.Glu1019Ala) c.3098A>C (p.Glu1033Ala) c.3047A>C (p.Glu1016Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.86674409A>G | CA393433071 | AGBL1 | c.3194A>G (p.Glu1065Gly) c.3131A>G (p.Glu1044Gly) n.290A>G c.3056A>G (p.Glu1019Gly) c.3098A>G (p.Glu1033Gly) c.3047A>G (p.Glu1016Gly) | |
| 15 | g.86674409A>T | CA393433070 | AGBL1 | c.3194A>T (p.Glu1065Val) c.3131A>T (p.Glu1044Val) n.290A>T c.3056A>T (p.Glu1019Val) c.3098A>T (p.Glu1033Val) c.3047A>T (p.Glu1016Val) | |
| 15 | g.86674410G>A | CA492229056 | AGBL1 | c.3195G>A (p.Glu1065=) c.3132G>A (p.Glu1044=) n.291G>A c.3057G>A (p.Glu1019=) c.3099G>A (p.Glu1033=) c.3048G>A (p.Glu1016=) | |
| 15 | g.86674410G>C | CA393433072 | AGBL1 | c.3195G>C (p.Glu1065Asp) c.3132G>C (p.Glu1044Asp) n.291G>C c.3057G>C (p.Glu1019Asp) c.3099G>C (p.Glu1033Asp) c.3048G>C (p.Glu1016Asp) | |
| 15 | g.86674410G>T | CA393433073 | AGBL1 | c.3195G>T (p.Glu1065Asp) c.3132G>T (p.Glu1044Asp) n.291G>T c.3057G>T (p.Glu1019Asp) c.3099G>T (p.Glu1033Asp) c.3048G>T (p.Glu1016Asp) | gnomAD v4 |
| 15 | g.86674411G>A | CA393433074 | AGBL1 | c.3196G>A (p.Asp1066Asn) c.3133G>A (p.Asp1045Asn) n.292G>A c.3058G>A (p.Asp1020Asn) c.3100G>A (p.Asp1034Asn) c.3049G>A (p.Asp1017Asn) | |
| 15 | g.86674411G>C | CA393433075 | AGBL1 | c.3196G>C (p.Asp1066His) c.3133G>C (p.Asp1045His) n.292G>C c.3058G>C (p.Asp1020His) c.3100G>C (p.Asp1034His) c.3049G>C (p.Asp1017His) | |
| 15 | g.86674411G>T | CA393433076 | AGBL1 | c.3196G>T (p.Asp1066Tyr) c.3133G>T (p.Asp1045Tyr) n.292G>T c.3058G>T (p.Asp1020Tyr) c.3100G>T (p.Asp1034Tyr) c.3049G>T (p.Asp1017Tyr) | gnomAD v4 |
| 15 | g.86674412A>C | CA393433077 | AGBL1 | c.3197A>C (p.Asp1066Ala) c.3134A>C (p.Asp1045Ala) n.293A>C c.3059A>C (p.Asp1020Ala) c.3101A>C (p.Asp1034Ala) c.3050A>C (p.Asp1017Ala) | |
| 15 | g.86674412A>G | CA393433078 | AGBL1 | c.3197A>G (p.Asp1066Gly) c.3134A>G (p.Asp1045Gly) n.293A>G c.3059A>G (p.Asp1020Gly) c.3101A>G (p.Asp1034Gly) c.3050A>G (p.Asp1017Gly) | |
| 15 | g.86674412A>T | CA393433079 | AGBL1 | c.3197A>T (p.Asp1066Val) c.3134A>T (p.Asp1045Val) n.293A>T c.3059A>T (p.Asp1020Val) c.3101A>T (p.Asp1034Val) c.3050A>T (p.Asp1017Val) | gnomAD v4 |
| 15 | g.86674413C>A | CA393433080 | AGBL1 | c.3198C>A (p.Asp1066Glu) c.3135C>A (p.Asp1045Glu) n.294C>A c.3060C>A (p.Asp1020Glu) c.3102C>A (p.Asp1034Glu) c.3051C>A (p.Asp1017Glu) | |
| 15 | g.86674413C= | CA2193304194 | AGBL1 | c.3198C= (p.Asp1066=) c.3135C= (p.Asp1045=) n.294C= c.3060C= (p.Asp1020=) c.3102C= (p.Asp1034=) c.3051C= (p.Asp1017=) | |
| 15 | g.86674413C>G | CA393433081 | AGBL1 | c.3198C>G (p.Asp1066Glu) c.3135C>G (p.Asp1045Glu) n.294C>G c.3060C>G (p.Asp1020Glu) c.3102C>G (p.Asp1034Glu) c.3051C>G (p.Asp1017Glu) | |
| 15 | g.86674413C>T | CA7716381 | AGBL1 | c.3198C>T (p.Asp1066=) c.3135C>T (p.Asp1045=) n.294C>T c.3060C>T (p.Asp1020=) c.3102C>T (p.Asp1034=) c.3051C>T (p.Asp1017=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.86674414G>A | CA7716382 | AGBL1 | c.3199G>A (p.Ala1067Thr) c.3136G>A (p.Ala1046Thr) n.295G>A c.3061G>A (p.Ala1021Thr) c.3103G>A (p.Ala1035Thr) c.3052G>A (p.Ala1018Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674414G>C | CA393433083 | AGBL1 | c.3199G>C (p.Ala1067Pro) c.3136G>C (p.Ala1046Pro) n.295G>C c.3061G>C (p.Ala1021Pro) c.3103G>C (p.Ala1035Pro) c.3052G>C (p.Ala1018Pro) | |
| 15 | g.86674414G= | CA2193304199 | AGBL1 | c.3199G= (p.Ala1067=) c.3136G= (p.Ala1046=) n.295G= c.3061G= (p.Ala1021=) c.3103G= (p.Ala1035=) c.3052G= (p.Ala1018=) | |
| 15 | g.86674414G>T | CA393433082 | AGBL1 | c.3199G>T (p.Ala1067Ser) c.3136G>T (p.Ala1046Ser) n.295G>T c.3061G>T (p.Ala1021Ser) c.3103G>T (p.Ala1035Ser) c.3052G>T (p.Ala1018Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674415C>A | CA393433084 | AGBL1 | c.3200C>A (p.Ala1067Asp) c.3137C>A (p.Ala1046Asp) n.296C>A c.3062C>A (p.Ala1021Asp) c.3104C>A (p.Ala1035Asp) c.3053C>A (p.Ala1018Asp) | |
| 15 | g.86674415C>G | CA393433085 | AGBL1 | c.3200C>G (p.Ala1067Gly) c.3137C>G (p.Ala1046Gly) n.296C>G c.3062C>G (p.Ala1021Gly) c.3104C>G (p.Ala1035Gly) c.3053C>G (p.Ala1018Gly) | COSMIC COSMIC COSMIC |
| 15 | g.86674415C>T | CA393433086 | AGBL1 | c.3200C>T (p.Ala1067Val) c.3137C>T (p.Ala1046Val) n.296C>T c.3062C>T (p.Ala1021Val) c.3104C>T (p.Ala1035Val) c.3053C>T (p.Ala1018Val) | gnomAD v4 |
| 15 | g.86674416T>A | CA492229057 | AGBL1 | c.3201T>A (p.Ala1067=) c.3138T>A (p.Ala1046=) n.297T>A c.3063T>A (p.Ala1021=) c.3105T>A (p.Ala1035=) c.3054T>A (p.Ala1018=) | |
| 15 | g.86674416T>C | CA492229058 | AGBL1 | c.3201T>C (p.Ala1067=) c.3138T>C (p.Ala1046=) n.297T>C c.3063T>C (p.Ala1021=) c.3105T>C (p.Ala1035=) c.3054T>C (p.Ala1018=) | |
| 15 | g.86674416T>G | CA492229059 | AGBL1 | c.3201T>G (p.Ala1067=) c.3138T>G (p.Ala1046=) n.297T>G c.3063T>G (p.Ala1021=) c.3105T>G (p.Ala1035=) c.3054T>G (p.Ala1018=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674417C>A | CA393433087 | AGBL1 | c.3202C>A (p.Leu1068Met) c.3139C>A (p.Leu1047Met) n.298C>A c.3064C>A (p.Leu1022Met) c.3106C>A (p.Leu1036Met) c.3055C>A (p.Leu1019Met) | gnomAD v4 |
| 15 | g.86674417C= | CA2193304204 | AGBL1 | c.3202C= (p.Leu1068=) c.3139C= (p.Leu1047=) n.298C= c.3064C= (p.Leu1022=) c.3106C= (p.Leu1036=) c.3055C= (p.Leu1019=) | |
| 15 | g.86674417C>G | CA7716383 | AGBL1 | c.3202C>G (p.Leu1068Val) c.3139C>G (p.Leu1047Val) n.298C>G c.3064C>G (p.Leu1022Val) c.3106C>G (p.Leu1036Val) c.3055C>G (p.Leu1019Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674417C>T | CA492229060 | AGBL1 | c.3202C>T (p.Leu1068=) c.3139C>T (p.Leu1047=) n.298C>T c.3064C>T (p.Leu1022=) c.3106C>T (p.Leu1036=) c.3055C>T (p.Leu1019=) | dbSNP |
| 15 | g.86674418T>A | CA393433088 | AGBL1 | c.3203T>A (p.Leu1068Gln) c.3140T>A (p.Leu1047Gln) n.299T>A c.3065T>A (p.Leu1022Gln) c.3107T>A (p.Leu1036Gln) c.3056T>A (p.Leu1019Gln) | |
| 15 | g.86674418T>C | CA7716384 | AGBL1 | c.3203T>C (p.Leu1068Pro) c.3140T>C (p.Leu1047Pro) n.299T>C c.3065T>C (p.Leu1022Pro) c.3107T>C (p.Leu1036Pro) c.3056T>C (p.Leu1019Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674418T>G | CA393433089 | AGBL1 | c.3203T>G (p.Leu1068Arg) c.3140T>G (p.Leu1047Arg) n.299T>G c.3065T>G (p.Leu1022Arg) c.3107T>G (p.Leu1036Arg) c.3056T>G (p.Leu1019Arg) | |
| 15 | g.86674418T= | CA2193304207 | AGBL1 | c.3203T= (p.Leu1068=) c.3140T= (p.Leu1047=) n.299T= c.3065T= (p.Leu1022=) c.3107T= (p.Leu1036=) c.3056T= (p.Leu1019=) | |
| 15 | g.86674418_86674419delinsTG | CA2193304209 | AGBL1 | c.3203_3204delinsTG (p.Leu1068=) c.3140_3141delinsTG (p.Leu1047=) n.299_300delinsTG c.3065_3066delinsTG (p.Leu1022=) c.3107_3108delinsTG (p.Leu1036=) c.3056_3057delinsTG (p.Leu1019=) | |
| 15 | g.86674419G>A | CA492229061 | AGBL1 | c.3204G>A (p.Leu1068=) c.3141G>A (p.Leu1047=) n.300G>A c.3066G>A (p.Leu1022=) c.3108G>A (p.Leu1036=) c.3057G>A (p.Leu1019=) | |
| 15 | g.86674419G>C | CA492229062 | AGBL1 | c.3204G>C (p.Leu1068=) c.3141G>C (p.Leu1047=) n.300G>C c.3066G>C (p.Leu1022=) c.3108G>C (p.Leu1036=) c.3057G>C (p.Leu1019=) | |
| 15 | g.86674419G>T | CA492229063 | AGBL1 | c.3204G>T (p.Leu1068=) c.3141G>T (p.Leu1047=) n.300G>T c.3066G>T (p.Leu1022=) c.3108G>T (p.Leu1036=) c.3057G>T (p.Leu1019=) | |
| 15 | g.86674420del | CA619864477 | AGBL1 | c.3205del (p.Asp1069ThrfsTer7) c.3142del (p.Asp1048ThrfsTer?) n.301del c.3067del (p.Asp1023ThrfsTer?) c.3067del (p.Asp1023ThrfsTer7) c.3142del (p.Asp1048ThrfsTer17) c.3109del (p.Asp1037ThrfsTer?) c.3058del (p.Asp1020ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674420G>A | CA393433090 | AGBL1 | c.3205G>A (p.Asp1069Asn) c.3142G>A (p.Asp1048Asn) n.301G>A c.3067G>A (p.Asp1023Asn) c.3109G>A (p.Asp1037Asn) c.3058G>A (p.Asp1020Asn) | |
| 15 | g.86674420G>C | CA393433091 | AGBL1 | c.3205G>C (p.Asp1069His) c.3142G>C (p.Asp1048His) n.301G>C c.3067G>C (p.Asp1023His) c.3109G>C (p.Asp1037His) c.3058G>C (p.Asp1020His) | |
| 15 | g.86674420G= | CA2193304215 | AGBL1 | c.3205G= (p.Asp1069=) c.3142G= (p.Asp1048=) n.301G= c.3067G= (p.Asp1023=) c.3109G= (p.Asp1037=) c.3058G= (p.Asp1020=) | |
| 15 | g.86674420G>T | CA393433092 | AGBL1 | c.3205G>T (p.Asp1069Tyr) c.3142G>T (p.Asp1048Tyr) n.301G>T c.3067G>T (p.Asp1023Tyr) c.3109G>T (p.Asp1037Tyr) c.3058G>T (p.Asp1020Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.86674421A= | CA2193304218 | AGBL1 | c.3206A= (p.Asp1069=) c.3143A= (p.Asp1048=) n.302A= c.3068A= (p.Asp1023=) c.3110A= (p.Asp1037=) c.3059A= (p.Asp1020=) | |
| 15 | g.86674421A>C | CA7716385 | AGBL1 | c.3206A>C (p.Asp1069Ala) c.3143A>C (p.Asp1048Ala) n.302A>C c.3068A>C (p.Asp1023Ala) c.3110A>C (p.Asp1037Ala) c.3059A>C (p.Asp1020Ala) | dbSNP ExAC |
| 15 | g.86674421A>G | CA393433094 | AGBL1 | c.3206A>G (p.Asp1069Gly) c.3143A>G (p.Asp1048Gly) n.302A>G c.3068A>G (p.Asp1023Gly) c.3110A>G (p.Asp1037Gly) c.3059A>G (p.Asp1020Gly) | gnomAD v4 |
| 15 | g.86674421A>T | CA393433093 | AGBL1 | c.3206A>T (p.Asp1069Val) c.3143A>T (p.Asp1048Val) n.302A>T c.3068A>T (p.Asp1023Val) c.3110A>T (p.Asp1037Val) c.3059A>T (p.Asp1020Val) | |
| 15 | g.86674422C>A | CA393433095 | AGBL1 | c.3207C>A (p.Asp1069Glu) c.3144C>A (p.Asp1048Glu) n.303C>A c.3069C>A (p.Asp1023Glu) c.3111C>A (p.Asp1037Glu) c.3060C>A (p.Asp1020Glu) | gnomAD v4 |
| 15 | g.86674422C= | CA2193304221 | AGBL1 | c.3207C= (p.Asp1069=) c.3144C= (p.Asp1048=) n.303C= c.3069C= (p.Asp1023=) c.3111C= (p.Asp1037=) c.3060C= (p.Asp1020=) | |
| 15 | g.86674422C>G | CA393433096 | AGBL1 | c.3207C>G (p.Asp1069Glu) c.3144C>G (p.Asp1048Glu) n.303C>G c.3069C>G (p.Asp1023Glu) c.3111C>G (p.Asp1037Glu) c.3060C>G (p.Asp1020Glu) | |
| 15 | g.86674422C>T | CA492229064 | AGBL1 | c.3207C>T (p.Asp1069=) c.3144C>T (p.Asp1048=) n.303C>T c.3069C>T (p.Asp1023=) c.3111C>T (p.Asp1037=) c.3060C>T (p.Asp1020=) | |
| 15 | g.86674423C>A | CA393433097 | AGBL1 | c.3208C>A (p.Gln1070Lys) c.3145C>A (p.Gln1049Lys) n.304C>A c.3070C>A (p.Gln1024Lys) c.3112C>A (p.Gln1038Lys) c.3061C>A (p.Gln1021Lys) | dbSNP |
| 15 | g.86674423C= | CA2193304223 | AGBL1 | c.3208C= (p.Gln1070=) c.3145C= (p.Gln1049=) n.304C= c.3070C= (p.Gln1024=) c.3112C= (p.Gln1038=) c.3061C= (p.Gln1021=) | |
| 15 | g.86674423C>G | CA393433098 | AGBL1 | c.3208C>G (p.Gln1070Glu) c.3145C>G (p.Gln1049Glu) n.304C>G c.3070C>G (p.Gln1024Glu) c.3112C>G (p.Gln1038Glu) c.3061C>G (p.Gln1021Glu) | |
| 15 | g.86674423C>T | CA393433099 | AGBL1 | c.3208C>T (p.Gln1070Ter) c.3145C>T (p.Gln1049Ter) n.304C>T c.3070C>T (p.Gln1024Ter) c.3112C>T (p.Gln1038Ter) c.3061C>T (p.Gln1021Ter) | gnomAD v4 |
| 15 | g.86674423_86674424insTGC | CA2193304222 | AGBL1 | c.3208_3209insTGC (p.Asp1069_Gln1070insLeu) c.3145_3146insTGC (p.Asp1048_Gln1049insLeu) n.304_305insTGC c.3070_3071insTGC (p.Asp1023_Gln1024insLeu) c.3112_3113insTGC (p.Asp1037_Gln1038insLeu) c.3061_3062insTGC (p.Asp1020_Gln1021insLeu) | dbSNP |
| 15 | g.86674424A= | CA2193304226 | AGBL1 | c.3209A= (p.Gln1070=) c.3146A= (p.Gln1049=) n.305A= c.3071A= (p.Gln1024=) c.3113A= (p.Gln1038=) c.3062A= (p.Gln1021=) | |
| 15 | g.86674424A>C | CA393433100 | AGBL1 | c.3209A>C (p.Gln1070Pro) c.3146A>C (p.Gln1049Pro) n.305A>C c.3071A>C (p.Gln1024Pro) c.3113A>C (p.Gln1038Pro) c.3062A>C (p.Gln1021Pro) | |
| 15 | g.86674424A>G | CA7716386 | AGBL1 | c.3209A>G (p.Gln1070Arg) c.3146A>G (p.Gln1049Arg) n.305A>G c.3071A>G (p.Gln1024Arg) c.3113A>G (p.Gln1038Arg) c.3062A>G (p.Gln1021Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.86674424A>T | CA393433101 | AGBL1 | c.3209A>T (p.Gln1070Leu) c.3146A>T (p.Gln1049Leu) n.305A>T c.3071A>T (p.Gln1024Leu) c.3113A>T (p.Gln1038Leu) c.3062A>T (p.Gln1021Leu) | |
| 15 | g.86674425G>A | CA492229065 | AGBL1 | c.3210G>A (p.Gln1070=) c.3147G>A (p.Gln1049=) n.306G>A c.3072G>A (p.Gln1024=) c.3114G>A (p.Gln1038=) c.3063G>A (p.Gln1021=) | |
| 15 | g.86674425G>C | CA393433102 | AGBL1 | c.3210G>C (p.Gln1070His) c.3147G>C (p.Gln1049His) n.306G>C c.3072G>C (p.Gln1024His) c.3114G>C (p.Gln1038His) c.3063G>C (p.Gln1021His) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.86674425G= | CA2193304229 | AGBL1 | c.3210G= (p.Gln1070=) c.3147G= (p.Gln1049=) n.306G= c.3072G= (p.Gln1024=) c.3114G= (p.Gln1038=) c.3063G= (p.Gln1021=) | |
| 15 | g.86674425G>T | CA393433103 | AGBL1 | c.3210G>T (p.Gln1070His) c.3147G>T (p.Gln1049His) n.306G>T c.3072G>T (p.Gln1024His) c.3114G>T (p.Gln1038His) c.3063G>T (p.Gln1021His) | gnomAD v4 |
| 15 | g.86674426C>A | CA393433104 | AGBL1 | c.3211C>A (p.His1071Asn) c.3148C>A (p.His1050Asn) n.307C>A c.3073C>A (p.His1025Asn) c.3115C>A (p.His1039Asn) c.3064C>A (p.His1022Asn) | ClinVar |
| 15 | g.86674426C= | CA2193304232 | AGBL1 | c.3211C= (p.His1071=) c.3148C= (p.His1050=) n.307C= c.3073C= (p.His1025=) c.3115C= (p.His1039=) c.3064C= (p.His1022=) | |
| 15 | g.86674426C>G | CA393433105 | AGBL1 | c.3211C>G (p.His1071Asp) c.3148C>G (p.His1050Asp) n.307C>G c.3073C>G (p.His1025Asp) c.3115C>G (p.His1039Asp) c.3064C>G (p.His1022Asp) | |
| 15 | g.86674426C>T | CA393433106 | AGBL1 | c.3211C>T (p.His1071Tyr) c.3148C>T (p.His1050Tyr) n.307C>T c.3073C>T (p.His1025Tyr) c.3115C>T (p.His1039Tyr) c.3064C>T (p.His1022Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.86674427A= | CA2193304236 | AGBL1 | c.3212A= (p.His1071=) c.3149A= (p.His1050=) n.308A= c.3074A= (p.His1025=) c.3116A= (p.His1039=) c.3065A= (p.His1022=) | |
| 15 | g.86674427A>C | CA7716387 | AGBL1 | c.3212A>C (p.His1071Pro) c.3149A>C (p.His1050Pro) n.308A>C c.3074A>C (p.His1025Pro) c.3116A>C (p.His1039Pro) c.3065A>C (p.His1022Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674427A>G | CA393433107 | AGBL1 | c.3212A>G (p.His1071Arg) c.3149A>G (p.His1050Arg) n.308A>G c.3074A>G (p.His1025Arg) c.3116A>G (p.His1039Arg) c.3065A>G (p.His1022Arg) | |
| 15 | g.86674427A>T | CA393433108 | AGBL1 | c.3212A>T (p.His1071Leu) c.3149A>T (p.His1050Leu) n.308A>T c.3074A>T (p.His1025Leu) c.3116A>T (p.His1039Leu) c.3065A>T (p.His1022Leu) | |
| 15 | g.86674428C>A | CA393433109 | AGBL1 | c.3213C>A (p.His1071Gln) c.3150C>A (p.His1050Gln) n.309C>A c.3075C>A (p.His1025Gln) c.3117C>A (p.His1039Gln) c.3066C>A (p.His1022Gln) | |
| 15 | g.86674428C= | CA2193304241 | AGBL1 | c.3213C= (p.His1071=) c.3150C= (p.His1050=) n.309C= c.3075C= (p.His1025=) c.3117C= (p.His1039=) c.3066C= (p.His1022=) | |
| 15 | g.86674428C>G | CA393433110 | AGBL1 | c.3213C>G (p.His1071Gln) c.3150C>G (p.His1050Gln) n.309C>G c.3075C>G (p.His1025Gln) c.3117C>G (p.His1039Gln) c.3066C>G (p.His1022Gln) | |
| 15 | g.86674428C>T | CA7716388 | AGBL1 | c.3213C>T (p.His1071=) c.3150C>T (p.His1050=) n.309C>T c.3075C>T (p.His1025=) c.3117C>T (p.His1039=) c.3066C>T (p.His1022=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674429C>A | CA393433111 | AGBL1 | c.3214C>A (p.Leu1072Ile) c.3151C>A (p.Leu1051Ile) n.310C>A c.3076C>A (p.Leu1026Ile) c.3118C>A (p.Leu1040Ile) c.3067C>A (p.Leu1023Ile) | |
| 15 | g.86674429C>G | CA393433112 | AGBL1 | c.3214C>G (p.Leu1072Val) c.3151C>G (p.Leu1051Val) n.310C>G c.3076C>G (p.Leu1026Val) c.3118C>G (p.Leu1040Val) c.3067C>G (p.Leu1023Val) | |
| 15 | g.86674429C>T | CA393433113 | AGBL1 | c.3214C>T (p.Leu1072Phe) c.3151C>T (p.Leu1051Phe) n.310C>T c.3076C>T (p.Leu1026Phe) c.3118C>T (p.Leu1040Phe) c.3067C>T (p.Leu1023Phe) | |
| 15 | g.86674430T>A | CA393433114 | AGBL1 | c.3215T>A (p.Leu1072His) c.3152T>A (p.Leu1051His) n.311T>A c.3077T>A (p.Leu1026His) c.3119T>A (p.Leu1040His) c.3068T>A (p.Leu1023His) | gnomAD v4 |
| 15 | g.86674430T>C | CA393433115 | AGBL1 | c.3215T>C (p.Leu1072Pro) c.3152T>C (p.Leu1051Pro) n.311T>C c.3077T>C (p.Leu1026Pro) c.3119T>C (p.Leu1040Pro) c.3068T>C (p.Leu1023Pro) | |
| 15 | g.86674430T>G | CA393433116 | AGBL1 | c.3215T>G (p.Leu1072Arg) c.3152T>G (p.Leu1051Arg) n.311T>G c.3077T>G (p.Leu1026Arg) c.3119T>G (p.Leu1040Arg) c.3068T>G (p.Leu1023Arg) | |
| 15 | g.86674431C>A | CA492229066 | AGBL1 | c.3216C>A (p.Leu1072=) c.3153C>A (p.Leu1051=) n.312C>A c.3078C>A (p.Leu1026=) c.3120C>A (p.Leu1040=) c.3069C>A (p.Leu1023=) | |
| 15 | g.86674431C>G | CA492229067 | AGBL1 | c.3216C>G (p.Leu1072=) c.3153C>G (p.Leu1051=) n.312C>G c.3078C>G (p.Leu1026=) c.3120C>G (p.Leu1040=) c.3069C>G (p.Leu1023=) | |
| 15 | g.86674431C>T | CA492229068 | AGBL1 | c.3216C>T (p.Leu1072=) c.3153C>T (p.Leu1051=) n.312C>T c.3078C>T (p.Leu1026=) c.3120C>T (p.Leu1040=) c.3069C>T (p.Leu1023=) | |
| 15 | g.86674435_86674451dup | CA2630169409 | AGBL1 | c.3220_3221+15dup c.3157_3158+15dup n.316_317+15dup c.3082_3095dup c.3082_3083+15dup c.3124_3125+15dup c.3073_3074+15dup | gnomAD v4 |
| 15 | g.86674432C>A | CA393433117 | AGBL1 | c.3217C>A (p.Gln1073Lys) c.3154C>A (p.Gln1052Lys) n.313C>A c.3079C>A (p.Gln1027Lys) c.3121C>A (p.Gln1041Lys) c.3070C>A (p.Gln1024Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.86674432C= | CA2193304243 | AGBL1 | c.3217C= (p.Gln1073=) c.3154C= (p.Gln1052=) n.313C= c.3079C= (p.Gln1027=) c.3121C= (p.Gln1041=) c.3070C= (p.Gln1024=) | |
| 15 | g.86674432C>G | CA393433118 | AGBL1 | c.3217C>G (p.Gln1073Glu) c.3154C>G (p.Gln1052Glu) n.313C>G c.3079C>G (p.Gln1027Glu) c.3121C>G (p.Gln1041Glu) c.3070C>G (p.Gln1024Glu) | |
| 15 | g.86674432C>T | CA393433119 | AGBL1 | c.3217C>T (p.Gln1073Ter) c.3154C>T (p.Gln1052Ter) n.313C>T c.3079C>T (p.Gln1027Ter) c.3121C>T (p.Gln1041Ter) c.3070C>T (p.Gln1024Ter) | |
| 15 | g.86674433A>C | CA393433121 | AGBL1 | c.3218A>C (p.Gln1073Pro) c.3155A>C (p.Gln1052Pro) n.314A>C c.3080A>C (p.Gln1027Pro) c.3122A>C (p.Gln1041Pro) c.3071A>C (p.Gln1024Pro) | |
| 15 | g.86674433A>G | CA393433122 | AGBL1 | c.3218A>G (p.Gln1073Arg) c.3155A>G (p.Gln1052Arg) n.314A>G c.3080A>G (p.Gln1027Arg) c.3122A>G (p.Gln1041Arg) c.3071A>G (p.Gln1024Arg) | |
| 15 | g.86674433A>T | CA393433120 | AGBL1 | c.3218A>T (p.Gln1073Leu) c.3155A>T (p.Gln1052Leu) n.314A>T c.3080A>T (p.Gln1027Leu) c.3122A>T (p.Gln1041Leu) c.3071A>T (p.Gln1024Leu) | |
| 15 | g.86674434A= | CA2193304245 | AGBL1 | c.3219A= (p.Gln1073=) c.3156A= (p.Gln1052=) n.315A= c.3081A= (p.Gln1027=) c.3123A= (p.Gln1041=) c.3072A= (p.Gln1024=) | |
| 15 | g.86674434A>C | CA393433124 | AGBL1 | c.3219A>C (p.Gln1073His) c.3156A>C (p.Gln1052His) n.315A>C c.3081A>C (p.Gln1027His) c.3123A>C (p.Gln1041His) c.3072A>C (p.Gln1024His) | |
| 15 | g.86674434A>G | CA492229069 | AGBL1 | c.3219A>G (p.Gln1073=) c.3156A>G (p.Gln1052=) n.315A>G c.3081A>G (p.Gln1027=) c.3123A>G (p.Gln1041=) c.3072A>G (p.Gln1024=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674434A>T | CA393433123 | AGBL1 | c.3219A>T (p.Gln1073His) c.3156A>T (p.Gln1052His) n.315A>T c.3081A>T (p.Gln1027His) c.3123A>T (p.Gln1041His) c.3072A>T (p.Gln1024His) | |
| 15 | g.86674435C>A | CA492229070 | AGBL1 | c.3220C>A (p.Arg1074=) c.3157C>A (p.Arg1053=) n.316C>A c.3082C>A (p.Arg1028=) c.3124C>A (p.Arg1042=) c.3073C>A (p.Arg1025=) | gnomAD v4 |
| 15 | g.86674435C= | CA2193304249 | AGBL1 | c.3220C= (p.Arg1074=) c.3157C= (p.Arg1053=) n.316C= c.3082C= (p.Arg1028=) c.3124C= (p.Arg1042=) c.3073C= (p.Arg1025=) | |
| 15 | g.86674435C>G | CA393433125 | AGBL1 | c.3220C>G (p.Arg1074Gly) c.3157C>G (p.Arg1053Gly) n.316C>G c.3082C>G (p.Arg1028Gly) c.3124C>G (p.Arg1042Gly) c.3073C>G (p.Arg1025Gly) | |
| 15 | g.86674435C>T | CA145337 | AGBL1 | c.3220C>T (p.Arg1074Ter) c.3157C>T (p.Arg1053Trp) n.316C>T c.3082C>T (p.Arg1028Trp) c.3082C>T (p.Arg1028Ter) c.3157C>T (p.Arg1053Ter) c.3124C>T (p.Arg1042Trp) c.3073C>T (p.Arg1025Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674435_86674436delinsCG | CA2193304252 | AGBL1 | c.3220_3221delinsCG (p.Arg1074=) c.3157_3158delinsCG (p.Arg1053=) n.316_317delinsCG c.3082_3083delinsCG (p.Arg1028=) c.3124_3125delinsCG (p.Arg1042=) c.3073_3074delinsCG (p.Arg1025=) |