| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.15402155T>G | CA2657911710 | NBAS | c.1168+13A>C n.3084+13A>C c.3071+13A>C (n.3071+13A>C) c.363+13A>C c.212+13A>C (n.212+13A>C) c.214+13A>C n.3115+13A>C c.2942+13A>C (n.2942+13A>C) c.2432+13A>C (n.2432+13A>C) c.872+13A>C (n.872+13A>C) c.863+13A>C (n.863+13A>C) n.3101+13A>C | gnomAD v4 |
| 2 | g.15402156G>T | CA2657911711 | NBAS | c.1168+12C>A n.3084+12C>A c.3071+12C>A (n.3071+12C>A) c.363+12C>A c.212+12C>A (n.212+12C>A) c.214+12C>A n.3115+12C>A c.2942+12C>A (n.2942+12C>A) c.2432+12C>A (n.2432+12C>A) c.872+12C>A (n.872+12C>A) c.863+12C>A (n.863+12C>A) n.3101+12C>A | gnomAD v4 |
| 2 | g.15402157T>C | CA2657911712 | NBAS | c.1168+11A>G n.3084+11A>G c.3071+11A>G (n.3071+11A>G) c.363+11A>G c.212+11A>G (n.212+11A>G) c.214+11A>G n.3115+11A>G c.2942+11A>G (n.2942+11A>G) c.2432+11A>G (n.2432+11A>G) c.872+11A>G (n.872+11A>G) c.863+11A>G (n.863+11A>G) n.3101+11A>G | gnomAD v4 |
| 2 | g.15402158G>A | CA1027860673 | NBAS | c.1168+10C>T n.3084+10C>T c.3071+10C>T (n.3071+10C>T) c.363+10C>T c.212+10C>T (n.212+10C>T) c.214+10C>T n.3115+10C>T c.2942+10C>T (n.2942+10C>T) c.2432+10C>T (n.2432+10C>T) c.872+10C>T (n.872+10C>T) c.863+10C>T (n.863+10C>T) n.3101+10C>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15402158G= | CA2490879578 | NBAS | c.1168+10C= n.3084+10C= c.3071+10C= (n.3071+10C=) c.363+10C= c.212+10C= (n.212+10C=) c.214+10C= n.3115+10C= c.2942+10C= (n.2942+10C=) c.2432+10C= (n.2432+10C=) c.872+10C= (n.872+10C=) c.863+10C= (n.863+10C=) n.3101+10C= | |
| 2 | g.15402158G>T | CA2657911713 | NBAS | c.1168+10C>A n.3084+10C>A c.3071+10C>A (n.3071+10C>A) c.363+10C>A c.212+10C>A (n.212+10C>A) c.214+10C>A n.3115+10C>A c.2942+10C>A (n.2942+10C>A) c.2432+10C>A (n.2432+10C>A) c.872+10C>A (n.872+10C>A) c.863+10C>A (n.863+10C>A) n.3101+10C>A | gnomAD v4 |
| 2 | g.15402159T>C | CA531030354 | NBAS | c.1168+9A>G n.3084+9A>G c.3071+9A>G (n.3071+9A>G) c.363+9A>G c.212+9A>G (n.212+9A>G) c.214+9A>G n.3115+9A>G c.2942+9A>G (n.2942+9A>G) c.2432+9A>G (n.2432+9A>G) c.872+9A>G (n.872+9A>G) c.863+9A>G (n.863+9A>G) n.3101+9A>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402159T= | CA2490879579 | NBAS | c.1168+9A= n.3084+9A= c.3071+9A= (n.3071+9A=) c.363+9A= c.212+9A= (n.212+9A=) c.214+9A= n.3115+9A= c.2942+9A= (n.2942+9A=) c.2432+9A= (n.2432+9A=) c.872+9A= (n.872+9A=) c.863+9A= (n.863+9A=) n.3101+9A= | |
| 2 | g.15402160A= | CA2490879580 | NBAS | c.1168+8T= n.3084+8T= c.3071+8T= (n.3071+8T=) c.363+8T= c.212+8T= (n.212+8T=) c.214+8T= n.3115+8T= c.2942+8T= (n.2942+8T=) c.2432+8T= (n.2432+8T=) c.872+8T= (n.872+8T=) c.863+8T= (n.863+8T=) n.3101+8T= | |
| 2 | g.15402160A>G | CA1536179 | NBAS | c.1168+8T>C n.3084+8T>C c.3071+8T>C (n.3071+8T>C) c.363+8T>C c.212+8T>C (n.212+8T>C) c.214+8T>C n.3115+8T>C c.2942+8T>C (n.2942+8T>C) c.2432+8T>C (n.2432+8T>C) c.872+8T>C (n.872+8T>C) c.863+8T>C (n.863+8T>C) n.3101+8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402160A>T | CA2657911714 | NBAS | c.1168+8T>A n.3084+8T>A c.3071+8T>A (n.3071+8T>A) c.363+8T>A c.212+8T>A (n.212+8T>A) c.214+8T>A n.3115+8T>A c.2942+8T>A (n.2942+8T>A) c.2432+8T>A (n.2432+8T>A) c.872+8T>A (n.872+8T>A) c.863+8T>A (n.863+8T>A) n.3101+8T>A | gnomAD v4 |
| 2 | g.15402162T>C | CA2657911715 | NBAS | c.1168+6A>G n.3084+6A>G c.3071+6A>G (n.3071+6A>G) c.363+6A>G c.212+6A>G (n.212+6A>G) c.214+6A>G n.3115+6A>G c.2942+6A>G (n.2942+6A>G) c.2432+6A>G (n.2432+6A>G) c.872+6A>G (n.872+6A>G) c.863+6A>G (n.863+6A>G) n.3101+6A>G | gnomAD v4 |
| 2 | g.15402164T>C | CA2490879582 | NBAS | c.1168+4A>G n.3084+4A>G c.3071+4A>G (n.3071+4A>G) c.363+4A>G c.212+4A>G (n.212+4A>G) c.214+4A>G n.3115+4A>G c.2942+4A>G (n.2942+4A>G) c.2432+4A>G (n.2432+4A>G) c.872+4A>G (n.872+4A>G) c.863+4A>G (n.863+4A>G) n.3101+4A>G | dbSNP |
| 2 | g.15402164T= | CA2490879581 | NBAS | c.1168+4A= n.3084+4A= c.3071+4A= (n.3071+4A=) c.363+4A= c.212+4A= (n.212+4A=) c.214+4A= n.3115+4A= c.2942+4A= (n.2942+4A=) c.2432+4A= (n.2432+4A=) c.872+4A= (n.872+4A=) c.863+4A= (n.863+4A=) n.3101+4A= | |
| 2 | g.15402166A>C | CA345881840 | NBAS | c.1168+2T>G n.3084+2T>G c.3071+2T>G (n.3071+2T>G) c.363+2T>G c.212+2T>G (n.212+2T>G) c.214+2T>G n.3115+2T>G c.2942+2T>G (n.2942+2T>G) c.2432+2T>G (n.2432+2T>G) c.872+2T>G (n.872+2T>G) c.863+2T>G (n.863+2T>G) n.3101+2T>G | |
| 2 | g.15402166A>G | CA345881841 | NBAS | c.1168+2T>C n.3084+2T>C c.3071+2T>C (n.3071+2T>C) c.363+2T>C c.212+2T>C (n.212+2T>C) c.214+2T>C n.3115+2T>C c.2942+2T>C (n.2942+2T>C) c.2432+2T>C (n.2432+2T>C) c.872+2T>C (n.872+2T>C) c.863+2T>C (n.863+2T>C) n.3101+2T>C | |
| 2 | g.15402166A>T | CA345881842 | NBAS | c.1168+2T>A n.3084+2T>A c.3071+2T>A (n.3071+2T>A) c.363+2T>A c.212+2T>A (n.212+2T>A) c.214+2T>A n.3115+2T>A c.2942+2T>A (n.2942+2T>A) c.2432+2T>A (n.2432+2T>A) c.872+2T>A (n.872+2T>A) c.863+2T>A (n.863+2T>A) n.3101+2T>A | |
| 2 | g.15402167C>A | CA345881843 | NBAS | c.1168+1G>T n.3084+1G>T c.3071+1G>T (n.3071+1G>T) c.363+1G>T c.212+1G>T (n.212+1G>T) c.214+1G>T n.3115+1G>T c.2942+1G>T (n.2942+1G>T) c.2432+1G>T (n.2432+1G>T) c.872+1G>T (n.872+1G>T) c.863+1G>T (n.863+1G>T) n.3101+1G>T | |
| 2 | g.15402167C>G | CA345881844 | NBAS | c.1168+1G>C n.3084+1G>C c.3071+1G>C (n.3071+1G>C) c.363+1G>C c.212+1G>C (n.212+1G>C) c.214+1G>C n.3115+1G>C c.2942+1G>C (n.2942+1G>C) c.2432+1G>C (n.2432+1G>C) c.872+1G>C (n.872+1G>C) c.863+1G>C (n.863+1G>C) n.3101+1G>C | |
| 2 | g.15402167C>T | CA345881845 | NBAS | c.1168+1G>A n.3084+1G>A c.3071+1G>A (n.3071+1G>A) c.363+1G>A c.212+1G>A (n.212+1G>A) c.214+1G>A n.3115+1G>A c.2942+1G>A (n.2942+1G>A) c.2432+1G>A (n.2432+1G>A) c.872+1G>A (n.872+1G>A) c.863+1G>A (n.863+1G>A) n.3101+1G>A | |
| 2 | g.15402169del | CA2657911716 | NBAS | c.1168+1del n.3084+1del c.3071+1del c.363+1del c.212+1del c.214+1del n.3115+1del c.2942+1del c.2432+1del c.872+1del c.863+1del n.3101+1del | gnomAD v4 |
| 2 | g.15402168C>A | CA345881846 | NBAS | c.1168G>T n.3084G>T c.3071G>T (p.Gly1024Val) c.363G>T c.212G>T (p.Gly71Val) c.214G>T n.3115G>T c.2942G>T (p.Gly981Val) c.2432G>T (p.Gly811Val) c.872G>T (p.Gly291Val) c.863G>T (p.Gly288Val) n.3101G>T | |
| 2 | g.15402168C= | CA2490879583 | NBAS | c.1168G= n.3084G= c.3071G= (p.Gly1024=) c.363G= c.212G= (p.Gly71=) c.214G= n.3115G= c.2942G= (p.Gly981=) c.2432G= (p.Gly811=) c.872G= (p.Gly291=) c.863G= (p.Gly288=) n.3101G= | |
| 2 | g.15402168C>G | CA345881847 | NBAS | c.1168G>C n.3084G>C c.3071G>C (p.Gly1024Ala) c.363G>C c.212G>C (p.Gly71Ala) c.214G>C n.3115G>C c.2942G>C (p.Gly981Ala) c.2432G>C (p.Gly811Ala) c.872G>C (p.Gly291Ala) c.863G>C (p.Gly288Ala) n.3101G>C | |
| 2 | g.15402168C>T | CA1536180 | NBAS | c.1168G>A n.3084G>A c.3071G>A (p.Gly1024Asp) c.363G>A c.212G>A (p.Gly71Asp) c.214G>A n.3115G>A c.2942G>A (p.Gly981Asp) c.2432G>A (p.Gly811Asp) c.872G>A (p.Gly291Asp) c.863G>A (p.Gly288Asp) n.3101G>A | dbSNP ExAC gnomAD v2 |
| 2 | g.15402169C>A | CA345881848 | NBAS | c.1167G>T n.3083G>T c.3070G>T (p.Gly1024Cys) c.362G>T c.211G>T (p.Gly71Cys) c.213G>T n.3114G>T c.2941G>T (p.Gly981Cys) c.2431G>T (p.Gly811Cys) c.871G>T (p.Gly291Cys) c.862G>T (p.Gly288Cys) n.3100G>T | |
| 2 | g.15402169C= | CA2490879584 | NBAS | c.1167G= n.3083G= c.3070G= (p.Gly1024=) c.362G= c.211G= (p.Gly71=) c.213G= n.3114G= c.2941G= (p.Gly981=) c.2431G= (p.Gly811=) c.871G= (p.Gly291=) c.862G= (p.Gly288=) n.3100G= | |
| 2 | g.15402169C>G | CA345881850 | NBAS | c.1167G>C n.3083G>C c.3070G>C (p.Gly1024Arg) c.362G>C c.211G>C (p.Gly71Arg) c.213G>C n.3114G>C c.2941G>C (p.Gly981Arg) c.2431G>C (p.Gly811Arg) c.871G>C (p.Gly291Arg) c.862G>C (p.Gly288Arg) n.3100G>C | |
| 2 | g.15402169C>T | CA345881849 | NBAS | c.1167G>A n.3083G>A c.3070G>A (p.Gly1024Ser) c.362G>A c.211G>A (p.Gly71Ser) c.213G>A n.3114G>A c.2941G>A (p.Gly981Ser) c.2431G>A (p.Gly811Ser) c.871G>A (p.Gly291Ser) c.862G>A (p.Gly288Ser) n.3100G>A | dbSNP |
| 2 | g.15402170A>C | CA345881851 | NBAS | c.1166T>G n.3082T>G c.3069T>G (p.Tyr1023Ter) c.361T>G c.210T>G (p.Tyr70Ter) c.212T>G n.3113T>G c.2940T>G (p.Tyr980Ter) c.2430T>G (p.Tyr810Ter) c.870T>G (p.Tyr290Ter) c.861T>G (p.Tyr287Ter) n.3099T>G | |
| 2 | g.15402170A>G | CA424868917 | NBAS | c.1166T>C n.3082T>C c.3069T>C (p.Tyr1023=) c.361T>C c.210T>C (p.Tyr70=) c.212T>C n.3113T>C c.2940T>C (p.Tyr980=) c.2430T>C (p.Tyr810=) c.870T>C (p.Tyr290=) c.861T>C (p.Tyr287=) n.3099T>C | gnomAD v4 |
| 2 | g.15402170A>T | CA345881852 | NBAS | c.1166T>A n.3082T>A c.3069T>A (p.Tyr1023Ter) c.361T>A c.210T>A (p.Tyr70Ter) c.212T>A n.3113T>A c.2940T>A (p.Tyr980Ter) c.2430T>A (p.Tyr810Ter) c.870T>A (p.Tyr290Ter) c.861T>A (p.Tyr287Ter) n.3099T>A | |
| 2 | g.15402171T>A | CA345881853 | NBAS | c.1165A>T n.3081A>T c.3068A>T (p.Tyr1023Phe) c.360A>T c.209A>T (p.Tyr70Phe) c.211A>T n.3112A>T c.2939A>T (p.Tyr980Phe) c.2429A>T (p.Tyr810Phe) c.869A>T (p.Tyr290Phe) c.860A>T (p.Tyr287Phe) n.3098A>T | |
| 2 | g.15402171T>C | CA345881855 | NBAS | c.1165A>G n.3081A>G c.3068A>G (p.Tyr1023Cys) c.360A>G c.209A>G (p.Tyr70Cys) c.211A>G n.3112A>G c.2939A>G (p.Tyr980Cys) c.2429A>G (p.Tyr810Cys) c.869A>G (p.Tyr290Cys) c.860A>G (p.Tyr287Cys) n.3098A>G | |
| 2 | g.15402171T>G | CA345881854 | NBAS | c.1165A>C n.3081A>C c.3068A>C (p.Tyr1023Ser) c.360A>C c.209A>C (p.Tyr70Ser) c.211A>C n.3112A>C c.2939A>C (p.Tyr980Ser) c.2429A>C (p.Tyr810Ser) c.869A>C (p.Tyr290Ser) c.860A>C (p.Tyr287Ser) n.3098A>C | |
| 2 | g.15402172A= | CA2490879585 | NBAS | c.1164T= n.3080T= c.3067T= (p.Tyr1023=) c.359T= c.208T= (p.Tyr70=) c.210T= n.3111T= c.2938T= (p.Tyr980=) c.2428T= (p.Tyr810=) c.868T= (p.Tyr290=) c.859T= (p.Tyr287=) n.3097T= | |
| 2 | g.15402172A>C | CA345881856 | NBAS | c.1164T>G n.3080T>G c.3067T>G (p.Tyr1023Asp) c.359T>G c.208T>G (p.Tyr70Asp) c.210T>G n.3111T>G c.2938T>G (p.Tyr980Asp) c.2428T>G (p.Tyr810Asp) c.868T>G (p.Tyr290Asp) c.859T>G (p.Tyr287Asp) n.3097T>G | |
| 2 | g.15402172A>G | CA1536181 | NBAS | c.1164T>C n.3080T>C c.3067T>C (p.Tyr1023His) c.359T>C c.208T>C (p.Tyr70His) c.210T>C n.3111T>C c.2938T>C (p.Tyr980His) c.2428T>C (p.Tyr810His) c.868T>C (p.Tyr290His) c.859T>C (p.Tyr287His) n.3097T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402172A>T | CA345881857 | NBAS | c.1164T>A n.3080T>A c.3067T>A (p.Tyr1023Asn) c.359T>A c.208T>A (p.Tyr70Asn) c.210T>A n.3111T>A c.2938T>A (p.Tyr980Asn) c.2428T>A (p.Tyr810Asn) c.868T>A (p.Tyr290Asn) c.859T>A (p.Tyr287Asn) n.3097T>A | |
| 2 | g.15402173T>A | CA424868918 | NBAS | c.1163A>T n.3079A>T c.3066A>T (p.Gly1022=) c.358A>T c.207A>T (p.Gly69=) c.209A>T n.3110A>T c.2937A>T (p.Gly979=) c.2427A>T (p.Gly809=) c.867A>T (p.Gly289=) c.858A>T (p.Gly286=) n.3096A>T | |
| 2 | g.15402173T>C | CA424868919 | NBAS | c.1163A>G n.3079A>G c.3066A>G (p.Gly1022=) c.358A>G c.207A>G (p.Gly69=) c.209A>G n.3110A>G c.2937A>G (p.Gly979=) c.2427A>G (p.Gly809=) c.867A>G (p.Gly289=) c.858A>G (p.Gly286=) n.3096A>G | |
| 2 | g.15402173T>G | CA42621696 | NBAS | c.1163A>C n.3079A>C c.3066A>C (p.Gly1022=) c.358A>C c.207A>C (p.Gly69=) c.209A>C n.3110A>C c.2937A>C (p.Gly979=) c.2427A>C (p.Gly809=) c.867A>C (p.Gly289=) c.858A>C (p.Gly286=) n.3096A>C | ClinVar dbSNP |
| 2 | g.15402173T= | CA2490879586 | NBAS | c.1163A= n.3079A= c.3066A= (p.Gly1022=) c.358A= c.207A= (p.Gly69=) c.209A= n.3110A= c.2937A= (p.Gly979=) c.2427A= (p.Gly809=) c.867A= (p.Gly289=) c.858A= (p.Gly286=) n.3096A= | |
| 2 | g.15402174C>A | CA345881859 | NBAS | c.1162G>T n.3078G>T c.3065G>T (p.Gly1022Val) c.357G>T c.206G>T (p.Gly69Val) c.208G>T n.3109G>T c.2936G>T (p.Gly979Val) c.2426G>T (p.Gly809Val) c.866G>T (p.Gly289Val) c.857G>T (p.Gly286Val) n.3095G>T | |
| 2 | g.15402174C= | CA2490879587 | NBAS | c.1162G= n.3078G= c.3065G= (p.Gly1022=) c.357G= c.206G= (p.Gly69=) c.208G= n.3109G= c.2936G= (p.Gly979=) c.2426G= (p.Gly809=) c.866G= (p.Gly289=) c.857G= (p.Gly286=) n.3095G= | |
| 2 | g.15402174C>G | CA345881858 | NBAS | c.1162G>C n.3078G>C c.3065G>C (p.Gly1022Ala) c.357G>C c.206G>C (p.Gly69Ala) c.208G>C n.3109G>C c.2936G>C (p.Gly979Ala) c.2426G>C (p.Gly809Ala) c.866G>C (p.Gly289Ala) c.857G>C (p.Gly286Ala) n.3095G>C | |
| 2 | g.15402174C>T | CA345881860 | NBAS | c.1162G>A n.3078G>A c.3065G>A (p.Gly1022Glu) c.357G>A c.206G>A (p.Gly69Glu) c.208G>A n.3109G>A c.2936G>A (p.Gly979Glu) c.2426G>A (p.Gly809Glu) c.866G>A (p.Gly289Glu) c.857G>A (p.Gly286Glu) n.3095G>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402175C>A | CA345881861 | NBAS | c.1161G>T n.3077G>T c.3064G>T (p.Gly1022Ter) c.356G>T c.205G>T (p.Gly69Ter) c.207G>T n.3108G>T c.2935G>T (p.Gly979Ter) c.2425G>T (p.Gly809Ter) c.865G>T (p.Gly289Ter) c.856G>T (p.Gly286Ter) n.3094G>T | |
| 2 | g.15402175C>G | CA345881863 | NBAS | c.1161G>C n.3077G>C c.3064G>C (p.Gly1022Arg) c.356G>C c.205G>C (p.Gly69Arg) c.207G>C n.3108G>C c.2935G>C (p.Gly979Arg) c.2425G>C (p.Gly809Arg) c.865G>C (p.Gly289Arg) c.856G>C (p.Gly286Arg) n.3094G>C | |
| 2 | g.15402175C>T | CA345881862 | NBAS | c.1161G>A n.3077G>A c.3064G>A (p.Gly1022Arg) c.356G>A c.205G>A (p.Gly69Arg) c.207G>A n.3108G>A c.2935G>A (p.Gly979Arg) c.2425G>A (p.Gly809Arg) c.865G>A (p.Gly289Arg) c.856G>A (p.Gly286Arg) n.3094G>A | gnomAD v4 |
| 2 | g.15402176T>A | CA345881864 | NBAS | c.1160A>T n.3076A>T c.3063A>T (p.Arg1021Ser) c.355A>T c.204A>T (p.Arg68Ser) c.206A>T n.3107A>T c.2934A>T (p.Arg978Ser) c.2424A>T (p.Arg808Ser) c.864A>T (p.Arg288Ser) c.855A>T (p.Arg285Ser) n.3093A>T | |
| 2 | g.15402176T>C | CA1536182 | NBAS | c.1160A>G n.3076A>G c.3063A>G (p.Arg1021=) c.355A>G c.204A>G (p.Arg68=) c.206A>G n.3107A>G c.2934A>G (p.Arg978=) c.2424A>G (p.Arg808=) c.864A>G (p.Arg288=) c.855A>G (p.Arg285=) n.3093A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402176T>G | CA345881865 | NBAS | c.1160A>C n.3076A>C c.3063A>C (p.Arg1021Ser) c.355A>C c.204A>C (p.Arg68Ser) c.206A>C n.3107A>C c.2934A>C (p.Arg978Ser) c.2424A>C (p.Arg808Ser) c.864A>C (p.Arg288Ser) c.855A>C (p.Arg285Ser) n.3093A>C | dbSNP gnomAD v4 |
| 2 | g.15402176T= | CA2490879588 | NBAS | c.1160A= n.3076A= c.3063A= (p.Arg1021=) c.355A= c.204A= (p.Arg68=) c.206A= n.3107A= c.2934A= (p.Arg978=) c.2424A= (p.Arg808=) c.864A= (p.Arg288=) c.855A= (p.Arg285=) n.3093A= | |
| 2 | g.15402177C>A | CA345881866 | NBAS | c.1159G>T n.3075G>T c.3062G>T (p.Arg1021Ile) c.354G>T c.203G>T (p.Arg68Ile) c.205G>T n.3106G>T c.2933G>T (p.Arg978Ile) c.2423G>T (p.Arg808Ile) c.863G>T (p.Arg288Ile) c.854G>T (p.Arg285Ile) n.3092G>T | |
| 2 | g.15402177C= | CA2490879589 | NBAS | c.1159G= n.3075G= c.3062G= (p.Arg1021=) c.354G= c.203G= (p.Arg68=) c.205G= n.3106G= c.2933G= (p.Arg978=) c.2423G= (p.Arg808=) c.863G= (p.Arg288=) c.854G= (p.Arg285=) n.3092G= | |
| 2 | g.15402177C>G | CA1536183 | NBAS | c.1159G>C n.3075G>C c.3062G>C (p.Arg1021Thr) c.354G>C c.203G>C (p.Arg68Thr) c.205G>C n.3106G>C c.2933G>C (p.Arg978Thr) c.2423G>C (p.Arg808Thr) c.863G>C (p.Arg288Thr) c.854G>C (p.Arg285Thr) n.3092G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.15402177C>T | CA345881867 | NBAS | c.1159G>A n.3075G>A c.3062G>A (p.Arg1021Lys) c.354G>A c.203G>A (p.Arg68Lys) c.205G>A n.3106G>A c.2933G>A (p.Arg978Lys) c.2423G>A (p.Arg808Lys) c.863G>A (p.Arg288Lys) c.854G>A (p.Arg285Lys) n.3092G>A | |
| 2 | g.15402178T>A | CA345881868 | NBAS | c.1158A>T n.3074A>T c.3061A>T (p.Arg1021Ter) c.353A>T c.202A>T (p.Arg68Ter) c.204A>T n.3105A>T c.2932A>T (p.Arg978Ter) c.2422A>T (p.Arg808Ter) c.862A>T (p.Arg288Ter) c.853A>T (p.Arg285Ter) n.3091A>T | |
| 2 | g.15402178T>C | CA345881869 | NBAS | c.1158A>G n.3074A>G c.3061A>G (p.Arg1021Gly) c.353A>G c.202A>G (p.Arg68Gly) c.204A>G n.3105A>G c.2932A>G (p.Arg978Gly) c.2422A>G (p.Arg808Gly) c.862A>G (p.Arg288Gly) c.853A>G (p.Arg285Gly) n.3091A>G | |
| 2 | g.15402178T>G | CA424868920 | NBAS | c.1158A>C n.3074A>C c.3061A>C (p.Arg1021=) c.353A>C c.202A>C (p.Arg68=) c.204A>C n.3105A>C c.2932A>C (p.Arg978=) c.2422A>C (p.Arg808=) c.862A>C (p.Arg288=) c.853A>C (p.Arg285=) n.3091A>C | |
| 2 | g.15402179T>A | CA345881870 | NBAS | c.1157A>T n.3073A>T c.3060A>T (p.Glu1020Asp) c.352A>T c.201A>T (p.Glu67Asp) c.203A>T n.3104A>T c.2931A>T (p.Glu977Asp) c.2421A>T (p.Glu807Asp) c.861A>T (p.Glu287Asp) c.852A>T (p.Glu284Asp) n.3090A>T | |
| 2 | g.15402179T>C | CA424868921 | NBAS | c.1157A>G n.3073A>G c.3060A>G (p.Glu1020=) c.352A>G c.201A>G (p.Glu67=) c.203A>G n.3104A>G c.2931A>G (p.Glu977=) c.2421A>G (p.Glu807=) c.861A>G (p.Glu287=) c.852A>G (p.Glu284=) n.3090A>G | |
| 2 | g.15402179T>G | CA345881871 | NBAS | c.1157A>C n.3073A>C c.3060A>C (p.Glu1020Asp) c.352A>C c.201A>C (p.Glu67Asp) c.203A>C n.3104A>C c.2931A>C (p.Glu977Asp) c.2421A>C (p.Glu807Asp) c.861A>C (p.Glu287Asp) c.852A>C (p.Glu284Asp) n.3090A>C | |
| 2 | g.15402180T>A | CA345881872 | NBAS | c.1156A>T n.3072A>T c.3059A>T (p.Glu1020Val) c.351A>T c.200A>T (p.Glu67Val) c.202A>T n.3103A>T c.2930A>T (p.Glu977Val) c.2420A>T (p.Glu807Val) c.860A>T (p.Glu287Val) c.851A>T (p.Glu284Val) n.3089A>T | |
| 2 | g.15402180T>C | CA345881873 | NBAS | c.1156A>G n.3072A>G c.3059A>G (p.Glu1020Gly) c.351A>G c.200A>G (p.Glu67Gly) c.202A>G n.3103A>G c.2930A>G (p.Glu977Gly) c.2420A>G (p.Glu807Gly) c.860A>G (p.Glu287Gly) c.851A>G (p.Glu284Gly) n.3089A>G | |
| 2 | g.15402180T>G | CA345881874 | NBAS | c.1156A>C n.3072A>C c.3059A>C (p.Glu1020Ala) c.351A>C c.200A>C (p.Glu67Ala) c.202A>C n.3103A>C c.2930A>C (p.Glu977Ala) c.2420A>C (p.Glu807Ala) c.860A>C (p.Glu287Ala) c.851A>C (p.Glu284Ala) n.3089A>C | |
| 2 | g.15402181C>A | CA345881875 | NBAS | c.1155G>T n.3071G>T c.3058G>T (p.Glu1020Ter) c.350G>T c.199G>T (p.Glu67Ter) c.201G>T n.3102G>T c.2929G>T (p.Glu977Ter) c.2419G>T (p.Glu807Ter) c.859G>T (p.Glu287Ter) c.850G>T (p.Glu284Ter) n.3088G>T | |
| 2 | g.15402181C>G | CA345881876 | NBAS | c.1155G>C n.3071G>C c.3058G>C (p.Glu1020Gln) c.350G>C c.199G>C (p.Glu67Gln) c.201G>C n.3102G>C c.2929G>C (p.Glu977Gln) c.2419G>C (p.Glu807Gln) c.859G>C (p.Glu287Gln) c.850G>C (p.Glu284Gln) n.3088G>C | |
| 2 | g.15402181C>T | CA345881877 | NBAS | c.1155G>A n.3071G>A c.3058G>A (p.Glu1020Lys) c.350G>A c.199G>A (p.Glu67Lys) c.201G>A n.3102G>A c.2929G>A (p.Glu977Lys) c.2419G>A (p.Glu807Lys) c.859G>A (p.Glu287Lys) c.850G>A (p.Glu284Lys) n.3088G>A | |
| 2 | g.15402182T>A | CA424868922 | NBAS | c.1154A>T n.3070A>T c.3057A>T (p.Pro1019=) c.349A>T c.198A>T (p.Pro66=) c.200A>T n.3101A>T c.2928A>T (p.Pro976=) c.2418A>T (p.Pro806=) c.858A>T (p.Pro286=) c.849A>T (p.Pro283=) n.3087A>T | |
| 2 | g.15402182T>C | CA424868923 | NBAS | c.1154A>G n.3070A>G c.3057A>G (p.Pro1019=) c.349A>G c.198A>G (p.Pro66=) c.200A>G n.3101A>G c.2928A>G (p.Pro976=) c.2418A>G (p.Pro806=) c.858A>G (p.Pro286=) c.849A>G (p.Pro283=) n.3087A>G | ClinVar dbSNP |
| 2 | g.15402182T>G | CA424868924 | NBAS | c.1154A>C n.3070A>C c.3057A>C (p.Pro1019=) c.349A>C c.198A>C (p.Pro66=) c.200A>C n.3101A>C c.2928A>C (p.Pro976=) c.2418A>C (p.Pro806=) c.858A>C (p.Pro286=) c.849A>C (p.Pro283=) n.3087A>C | |
| 2 | g.15402182T= | CA2490879590 | NBAS | c.1154A= n.3070A= c.3057A= (p.Pro1019=) c.349A= c.198A= (p.Pro66=) c.200A= n.3101A= c.2928A= (p.Pro976=) c.2418A= (p.Pro806=) c.858A= (p.Pro286=) c.849A= (p.Pro283=) n.3087A= | |
| 2 | g.15402183G>A | CA345881878 | NBAS | c.1153C>T n.3069C>T c.3056C>T (p.Pro1019Leu) c.348C>T c.197C>T (p.Pro66Leu) c.199C>T n.3100C>T c.2927C>T (p.Pro976Leu) c.2417C>T (p.Pro806Leu) c.857C>T (p.Pro286Leu) c.848C>T (p.Pro283Leu) n.3086C>T | |
| 2 | g.15402183G>C | CA345881879 | NBAS | c.1153C>G n.3069C>G c.3056C>G (p.Pro1019Arg) c.348C>G c.197C>G (p.Pro66Arg) c.199C>G n.3100C>G c.2927C>G (p.Pro976Arg) c.2417C>G (p.Pro806Arg) c.857C>G (p.Pro286Arg) c.848C>G (p.Pro283Arg) n.3086C>G | |
| 2 | g.15402183G>T | CA345881880 | NBAS | c.1153C>A n.3069C>A c.3056C>A (p.Pro1019Gln) c.348C>A c.197C>A (p.Pro66Gln) c.199C>A n.3100C>A c.2927C>A (p.Pro976Gln) c.2417C>A (p.Pro806Gln) c.857C>A (p.Pro286Gln) c.848C>A (p.Pro283Gln) n.3086C>A | |
| 2 | g.15402183_15402184insATGCAAATACAAT | CA2567739976 | NBAS | c.1152_1153insATTGTATTTGCAT n.3068_3069insATTGTATTTGCAT c.3055_3056insATTGTATTTGCAT (p.Pro1019HisfsTer11) c.347_348insATTGTATTTGCAT c.196_197insATTGTATTTGCAT (p.Pro66HisfsTer11) c.198_199insATTGTATTTGCAT n.3099_3100insATTGTATTTGCAT c.2926_2927insATTGTATTTGCAT (p.Pro976HisfsTer11) c.2416_2417insATTGTATTTGCAT (p.Pro806HisfsTer11) c.856_857insATTGTATTTGCAT (p.Pro286HisfsTer11) c.847_848insATTGTATTTGCAT (p.Pro283HisfsTer11) n.3085_3086insATTGTATTTGCAT | |
| 2 | g.15402184G>A | CA345881882 | NBAS | c.1152C>T n.3068C>T c.3055C>T (p.Pro1019Ser) c.347C>T c.196C>T (p.Pro66Ser) c.198C>T n.3099C>T c.2926C>T (p.Pro976Ser) c.2416C>T (p.Pro806Ser) c.856C>T (p.Pro286Ser) c.847C>T (p.Pro283Ser) n.3085C>T | |
| 2 | g.15402184G>C | CA345881881 | NBAS | c.1152C>G n.3068C>G c.3055C>G (p.Pro1019Ala) c.347C>G c.196C>G (p.Pro66Ala) c.198C>G n.3099C>G c.2926C>G (p.Pro976Ala) c.2416C>G (p.Pro806Ala) c.856C>G (p.Pro286Ala) c.847C>G (p.Pro283Ala) n.3085C>G | |
| 2 | g.15402184G= | CA2490879591 | NBAS | c.1152C= n.3068C= c.3055C= (p.Pro1019=) c.347C= c.196C= (p.Pro66=) c.198C= n.3099C= c.2926C= (p.Pro976=) c.2416C= (p.Pro806=) c.856C= (p.Pro286=) c.847C= (p.Pro283=) n.3085C= | |
| 2 | g.15402184G>T | CA1536184 | NBAS | c.1152C>A n.3068C>A c.3055C>A (p.Pro1019Thr) c.347C>A c.196C>A (p.Pro66Thr) c.198C>A n.3099C>A c.2926C>A (p.Pro976Thr) c.2416C>A (p.Pro806Thr) c.856C>A (p.Pro286Thr) c.847C>A (p.Pro283Thr) n.3085C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402185C>A | CA424868925 | NBAS | c.1151G>T n.3067G>T c.3054G>T (p.Leu1018=) c.346G>T c.195G>T (p.Leu65=) c.197G>T n.3098G>T c.2925G>T (p.Leu975=) c.2415G>T (p.Leu805=) c.855G>T (p.Leu285=) c.846G>T (p.Leu282=) n.3084G>T | gnomAD v4 |
| 2 | g.15402185C>G | CA424868926 | NBAS | c.1151G>C n.3067G>C c.3054G>C (p.Leu1018=) c.346G>C c.195G>C (p.Leu65=) c.197G>C n.3098G>C c.2925G>C (p.Leu975=) c.2415G>C (p.Leu805=) c.855G>C (p.Leu285=) c.846G>C (p.Leu282=) n.3084G>C | |
| 2 | g.15402185C>T | CA424868927 | NBAS | c.1151G>A n.3067G>A c.3054G>A (p.Leu1018=) c.346G>A c.195G>A (p.Leu65=) c.197G>A n.3098G>A c.2925G>A (p.Leu975=) c.2415G>A (p.Leu805=) c.855G>A (p.Leu285=) c.846G>A (p.Leu282=) n.3084G>A | |
| 2 | g.15402186A>C | CA345881883 | NBAS | c.1150T>G n.3066T>G c.3053T>G (p.Leu1018Arg) c.345T>G c.194T>G (p.Leu65Arg) c.196T>G n.3097T>G c.2924T>G (p.Leu975Arg) c.2414T>G (p.Leu805Arg) c.854T>G (p.Leu285Arg) c.845T>G (p.Leu282Arg) n.3083T>G | |
| 2 | g.15402186A>G | CA345881884 | NBAS | c.1150T>C n.3066T>C c.3053T>C (p.Leu1018Pro) c.345T>C c.194T>C (p.Leu65Pro) c.196T>C n.3097T>C c.2924T>C (p.Leu975Pro) c.2414T>C (p.Leu805Pro) c.854T>C (p.Leu285Pro) c.845T>C (p.Leu282Pro) n.3083T>C | |
| 2 | g.15402186A>T | CA345881885 | NBAS | c.1150T>A n.3066T>A c.3053T>A (p.Leu1018Gln) c.345T>A c.194T>A (p.Leu65Gln) c.196T>A n.3097T>A c.2924T>A (p.Leu975Gln) c.2414T>A (p.Leu805Gln) c.854T>A (p.Leu285Gln) c.845T>A (p.Leu282Gln) n.3083T>A | |
| 2 | g.15402187G>A | CA424868928 | NBAS | c.1149C>T n.3065C>T c.3052C>T (p.Leu1018=) c.344C>T c.193C>T (p.Leu65=) c.195C>T n.3096C>T c.2923C>T (p.Leu975=) c.2413C>T (p.Leu805=) c.853C>T (p.Leu285=) c.844C>T (p.Leu282=) n.3082C>T | gnomAD v4 |
| 2 | g.15402187G>C | CA1536185 | NBAS | c.1149C>G n.3065C>G c.3052C>G (p.Leu1018Val) c.344C>G c.193C>G (p.Leu65Val) c.195C>G n.3096C>G c.2923C>G (p.Leu975Val) c.2413C>G (p.Leu805Val) c.853C>G (p.Leu285Val) c.844C>G (p.Leu282Val) n.3082C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402187G= | CA2490879592 | NBAS | c.1149C= n.3065C= c.3052C= (p.Leu1018=) c.344C= c.193C= (p.Leu65=) c.195C= n.3096C= c.2923C= (p.Leu975=) c.2413C= (p.Leu805=) c.853C= (p.Leu285=) c.844C= (p.Leu282=) n.3082C= | |
| 2 | g.15402187G>T | CA345881886 | NBAS | c.1149C>A n.3065C>A c.3052C>A (p.Leu1018Met) c.344C>A c.193C>A (p.Leu65Met) c.195C>A n.3096C>A c.2923C>A (p.Leu975Met) c.2413C>A (p.Leu805Met) c.853C>A (p.Leu285Met) c.844C>A (p.Leu282Met) n.3082C>A | |
| 2 | g.15402188A>C | CA345881887 | NBAS | c.1148T>G n.3064T>G c.3051T>G (p.Cys1017Trp) c.343T>G c.192T>G (p.Cys64Trp) c.194T>G n.3095T>G c.2922T>G (p.Cys974Trp) c.2412T>G (p.Cys804Trp) c.852T>G (p.Cys284Trp) c.843T>G (p.Cys281Trp) n.3081T>G | |
| 2 | g.15402188A>G | CA424868929 | NBAS | c.1148T>C n.3064T>C c.3051T>C (p.Cys1017=) c.343T>C c.192T>C (p.Cys64=) c.194T>C n.3095T>C c.2922T>C (p.Cys974=) c.2412T>C (p.Cys804=) c.852T>C (p.Cys284=) c.843T>C (p.Cys281=) n.3081T>C | ClinVar gnomAD v4 |
| 2 | g.15402188A>T | CA345881888 | NBAS | c.1148T>A n.3064T>A c.3051T>A (p.Cys1017Ter) c.343T>A c.192T>A (p.Cys64Ter) c.194T>A n.3095T>A c.2922T>A (p.Cys974Ter) c.2412T>A (p.Cys804Ter) c.852T>A (p.Cys284Ter) c.843T>A (p.Cys281Ter) n.3081T>A | |
| 2 | g.15402189C>A | CA345881889 | NBAS | c.1147G>T n.3063G>T c.3050G>T (p.Cys1017Phe) c.342G>T c.191G>T (p.Cys64Phe) c.193G>T n.3094G>T c.2921G>T (p.Cys974Phe) c.2411G>T (p.Cys804Phe) c.851G>T (p.Cys284Phe) c.842G>T (p.Cys281Phe) n.3080G>T | |
| 2 | g.15402189C= | CA2490879593 | NBAS | c.1147G= n.3063G= c.3050G= (p.Cys1017=) c.342G= c.191G= (p.Cys64=) c.193G= n.3094G= c.2921G= (p.Cys974=) c.2411G= (p.Cys804=) c.851G= (p.Cys284=) c.842G= (p.Cys281=) n.3080G= | |
| 2 | g.15402189C>G | CA345881890 | NBAS | c.1147G>C n.3063G>C c.3050G>C (p.Cys1017Ser) c.342G>C c.191G>C (p.Cys64Ser) c.193G>C n.3094G>C c.2921G>C (p.Cys974Ser) c.2411G>C (p.Cys804Ser) c.851G>C (p.Cys284Ser) c.842G>C (p.Cys281Ser) n.3080G>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402189C>T | CA345881891 | NBAS | c.1147G>A n.3063G>A c.3050G>A (p.Cys1017Tyr) c.342G>A c.191G>A (p.Cys64Tyr) c.193G>A n.3094G>A c.2921G>A (p.Cys974Tyr) c.2411G>A (p.Cys804Tyr) c.851G>A (p.Cys284Tyr) c.842G>A (p.Cys281Tyr) n.3080G>A | gnomAD v4 |
| 2 | g.15402190A>C | CA345881893 | NBAS | c.1146T>G n.3062T>G c.3049T>G (p.Cys1017Gly) c.341T>G c.190T>G (p.Cys64Gly) c.192T>G n.3093T>G c.2920T>G (p.Cys974Gly) c.2410T>G (p.Cys804Gly) c.850T>G (p.Cys284Gly) c.841T>G (p.Cys281Gly) n.3079T>G | |
| 2 | g.15402190A>G | CA345881894 | NBAS | c.1146T>C n.3062T>C c.3049T>C (p.Cys1017Arg) c.341T>C c.190T>C (p.Cys64Arg) c.192T>C n.3093T>C c.2920T>C (p.Cys974Arg) c.2410T>C (p.Cys804Arg) c.850T>C (p.Cys284Arg) c.841T>C (p.Cys281Arg) n.3079T>C | COSMIC |
| 2 | g.15402190A>T | CA345881892 | NBAS | c.1146T>A n.3062T>A c.3049T>A (p.Cys1017Ser) c.341T>A c.190T>A (p.Cys64Ser) c.192T>A n.3093T>A c.2920T>A (p.Cys974Ser) c.2410T>A (p.Cys804Ser) c.850T>A (p.Cys284Ser) c.841T>A (p.Cys281Ser) n.3079T>A | |
| 2 | g.15402191T>A | CA345881895 | NBAS | c.1145A>T n.3061A>T c.3048A>T (p.Glu1016Asp) c.340A>T c.189A>T (p.Glu63Asp) c.191A>T n.3092A>T c.2919A>T (p.Glu973Asp) c.2409A>T (p.Glu803Asp) c.849A>T (p.Glu283Asp) c.840A>T (p.Glu280Asp) n.3078A>T | |
| 2 | g.15402191T>C | CA1536186 | NBAS | c.1145A>G n.3061A>G c.3048A>G (p.Glu1016=) c.340A>G c.189A>G (p.Glu63=) c.191A>G n.3092A>G c.2919A>G (p.Glu973=) c.2409A>G (p.Glu803=) c.849A>G (p.Glu283=) c.840A>G (p.Glu280=) n.3078A>G | dbSNP ExAC gnomAD v2 |
| 2 | g.15402191T>G | CA345881896 | NBAS | c.1145A>C n.3061A>C c.3048A>C (p.Glu1016Asp) c.340A>C c.189A>C (p.Glu63Asp) c.191A>C n.3092A>C c.2919A>C (p.Glu973Asp) c.2409A>C (p.Glu803Asp) c.849A>C (p.Glu283Asp) c.840A>C (p.Glu280Asp) n.3078A>C | |
| 2 | g.15402191T= | CA2490879594 | NBAS | c.1145A= n.3061A= c.3048A= (p.Glu1016=) c.340A= c.189A= (p.Glu63=) c.191A= n.3092A= c.2919A= (p.Glu973=) c.2409A= (p.Glu803=) c.849A= (p.Glu283=) c.840A= (p.Glu280=) n.3078A= | |
| 2 | g.15402192T>A | CA345881897 | NBAS | c.1144A>T n.3060A>T c.3047A>T (p.Glu1016Val) c.339A>T c.188A>T (p.Glu63Val) c.190A>T n.3091A>T c.2918A>T (p.Glu973Val) c.2408A>T (p.Glu803Val) c.848A>T (p.Glu283Val) c.839A>T (p.Glu280Val) n.3077A>T | |
| 2 | g.15402192T>C | CA345881899 | NBAS | c.1144A>G n.3060A>G c.3047A>G (p.Glu1016Gly) c.339A>G c.188A>G (p.Glu63Gly) c.190A>G n.3091A>G c.2918A>G (p.Glu973Gly) c.2408A>G (p.Glu803Gly) c.848A>G (p.Glu283Gly) c.839A>G (p.Glu280Gly) n.3077A>G | |
| 2 | g.15402192T>G | CA345881901 | NBAS | c.1144A>C n.3060A>C c.3047A>C (p.Glu1016Ala) c.339A>C c.188A>C (p.Glu63Ala) c.190A>C n.3091A>C c.2918A>C (p.Glu973Ala) c.2408A>C (p.Glu803Ala) c.848A>C (p.Glu283Ala) c.839A>C (p.Glu280Ala) n.3077A>C | |
| 2 | g.15402193C>A | CA345881903 | NBAS | c.1143G>T n.3059G>T c.3046G>T (p.Glu1016Ter) c.338G>T c.187G>T (p.Glu63Ter) c.189G>T n.3090G>T c.2917G>T (p.Glu973Ter) c.2407G>T (p.Glu803Ter) c.847G>T (p.Glu283Ter) c.838G>T (p.Glu280Ter) n.3076G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.15402193C>G | CA345881905 | NBAS | c.1143G>C n.3059G>C c.3046G>C (p.Glu1016Gln) c.338G>C c.187G>C (p.Glu63Gln) c.189G>C n.3090G>C c.2917G>C (p.Glu973Gln) c.2407G>C (p.Glu803Gln) c.847G>C (p.Glu283Gln) c.838G>C (p.Glu280Gln) n.3076G>C | |
| 2 | g.15402193C>T | CA345881906 | NBAS | c.1143G>A n.3059G>A c.3046G>A (p.Glu1016Lys) c.338G>A c.187G>A (p.Glu63Lys) c.189G>A n.3090G>A c.2917G>A (p.Glu973Lys) c.2407G>A (p.Glu803Lys) c.847G>A (p.Glu283Lys) c.838G>A (p.Glu280Lys) n.3076G>A | |
| 2 | g.15402194T>A | CA424868932 | NBAS | c.1142A>T n.3058A>T c.3045A>T (p.Leu1015=) c.337A>T c.186A>T (p.Leu62=) c.188A>T n.3089A>T c.2916A>T (p.Leu972=) c.2406A>T (p.Leu802=) c.846A>T (p.Leu282=) c.837A>T (p.Leu279=) n.3075A>T | |
| 2 | g.15402194T>C | CA424868931 | NBAS | c.1142A>G n.3058A>G c.3045A>G (p.Leu1015=) c.337A>G c.186A>G (p.Leu62=) c.188A>G n.3089A>G c.2916A>G (p.Leu972=) c.2406A>G (p.Leu802=) c.846A>G (p.Leu282=) c.837A>G (p.Leu279=) n.3075A>G | dbSNP |
| 2 | g.15402194T>G | CA424868930 | NBAS | c.1142A>C n.3058A>C c.3045A>C (p.Leu1015=) c.337A>C c.186A>C (p.Leu62=) c.188A>C n.3089A>C c.2916A>C (p.Leu972=) c.2406A>C (p.Leu802=) c.846A>C (p.Leu282=) c.837A>C (p.Leu279=) n.3075A>C | |
| 2 | g.15402194T= | CA2490879595 | NBAS | c.1142A= n.3058A= c.3045A= (p.Leu1015=) c.337A= c.186A= (p.Leu62=) c.188A= n.3089A= c.2916A= (p.Leu972=) c.2406A= (p.Leu802=) c.846A= (p.Leu282=) c.837A= (p.Leu279=) n.3075A= | |
| 2 | g.15402195del | CA2657911717 | NBAS | c.1141del n.3057del c.3044del (p.Leu1015GlnfsTer23) c.336del c.185del (p.Leu62GlnfsTer23) c.187del n.3088del c.2915del (p.Leu972GlnfsTer23) c.2405del (p.Leu802GlnfsTer23) c.845del (p.Leu282GlnfsTer23) c.836del (p.Leu279GlnfsTer23) n.3074del | gnomAD v4 |
| 2 | g.15402195A= | CA2490879596 | NBAS | c.1141T= n.3057T= c.3044T= (p.Leu1015=) c.336T= c.185T= (p.Leu62=) c.187T= n.3088T= c.2915T= (p.Leu972=) c.2405T= (p.Leu802=) c.845T= (p.Leu282=) c.836T= (p.Leu279=) n.3074T= | |
| 2 | g.15402195A>C | CA345881908 | NBAS | c.1141T>G n.3057T>G c.3044T>G (p.Leu1015Arg) c.336T>G c.185T>G (p.Leu62Arg) c.187T>G n.3088T>G c.2915T>G (p.Leu972Arg) c.2405T>G (p.Leu802Arg) c.845T>G (p.Leu282Arg) c.836T>G (p.Leu279Arg) n.3074T>G | |
| 2 | g.15402195A>G | CA1536187 | NBAS | c.1141T>C n.3057T>C c.3044T>C (p.Leu1015Pro) c.336T>C c.185T>C (p.Leu62Pro) c.187T>C n.3088T>C c.2915T>C (p.Leu972Pro) c.2405T>C (p.Leu802Pro) c.845T>C (p.Leu282Pro) c.836T>C (p.Leu279Pro) n.3074T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402195A>T | CA345881910 | NBAS | c.1141T>A n.3057T>A c.3044T>A (p.Leu1015Gln) c.336T>A c.185T>A (p.Leu62Gln) c.187T>A n.3088T>A c.2915T>A (p.Leu972Gln) c.2405T>A (p.Leu802Gln) c.845T>A (p.Leu282Gln) c.836T>A (p.Leu279Gln) n.3074T>A | |
| 2 | g.15402196G>A | CA424868933 | NBAS | c.1140C>T n.3056C>T c.3043C>T (p.Leu1015=) c.335C>T c.184C>T (p.Leu62=) c.186C>T n.3087C>T c.2914C>T (p.Leu972=) c.2404C>T (p.Leu802=) c.844C>T (p.Leu282=) c.835C>T (p.Leu279=) n.3073C>T | |
| 2 | g.15402196G>C | CA345881913 | NBAS | c.1140C>G n.3056C>G c.3043C>G (p.Leu1015Val) c.335C>G c.184C>G (p.Leu62Val) c.186C>G n.3087C>G c.2914C>G (p.Leu972Val) c.2404C>G (p.Leu802Val) c.844C>G (p.Leu282Val) c.835C>G (p.Leu279Val) n.3073C>G | gnomAD v4 |
| 2 | g.15402196G>T | CA345881912 | NBAS | c.1140C>A n.3056C>A c.3043C>A (p.Leu1015Ile) c.335C>A c.184C>A (p.Leu62Ile) c.186C>A n.3087C>A c.2914C>A (p.Leu972Ile) c.2404C>A (p.Leu802Ile) c.844C>A (p.Leu282Ile) c.835C>A (p.Leu279Ile) n.3073C>A | |
| 2 | g.15402197T>A | CA424868934 | NBAS | c.1139A>T n.3055A>T c.3042A>T (p.Leu1014=) c.334A>T c.183A>T (p.Leu61=) c.185A>T n.3086A>T c.2913A>T (p.Leu971=) c.2403A>T (p.Leu801=) c.843A>T (p.Leu281=) c.834A>T (p.Leu278=) n.3072A>T | |
| 2 | g.15402197T>C | CA1536188 | NBAS | c.1139A>G n.3055A>G c.3042A>G (p.Leu1014=) c.334A>G c.183A>G (p.Leu61=) c.185A>G n.3086A>G c.2913A>G (p.Leu971=) c.2403A>G (p.Leu801=) c.843A>G (p.Leu281=) c.834A>G (p.Leu278=) n.3072A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402197T>G | CA424868935 | NBAS | c.1139A>C n.3055A>C c.3042A>C (p.Leu1014=) c.334A>C c.183A>C (p.Leu61=) c.185A>C n.3086A>C c.2913A>C (p.Leu971=) c.2403A>C (p.Leu801=) c.843A>C (p.Leu281=) c.834A>C (p.Leu278=) n.3072A>C | |
| 2 | g.15402197T= | CA2490879597 | NBAS | c.1139A= n.3055A= c.3042A= (p.Leu1014=) c.334A= c.183A= (p.Leu61=) c.185A= n.3086A= c.2913A= (p.Leu971=) c.2403A= (p.Leu801=) c.843A= (p.Leu281=) c.834A= (p.Leu278=) n.3072A= | |
| 2 | g.15402198A>C | CA345881917 | NBAS | c.1138T>G n.3054T>G c.3041T>G (p.Leu1014Arg) c.333T>G c.182T>G (p.Leu61Arg) c.184T>G n.3085T>G c.2912T>G (p.Leu971Arg) c.2402T>G (p.Leu801Arg) c.842T>G (p.Leu281Arg) c.833T>G (p.Leu278Arg) n.3071T>G | |
| 2 | g.15402198A>G | CA345881919 | NBAS | c.1138T>C n.3054T>C c.3041T>C (p.Leu1014Pro) c.333T>C c.182T>C (p.Leu61Pro) c.184T>C n.3085T>C c.2912T>C (p.Leu971Pro) c.2402T>C (p.Leu801Pro) c.842T>C (p.Leu281Pro) c.833T>C (p.Leu278Pro) n.3071T>C | |
| 2 | g.15402198A>T | CA345881921 | NBAS | c.1138T>A n.3054T>A c.3041T>A (p.Leu1014Gln) c.333T>A c.182T>A (p.Leu61Gln) c.184T>A n.3085T>A c.2912T>A (p.Leu971Gln) c.2402T>A (p.Leu801Gln) c.842T>A (p.Leu281Gln) c.833T>A (p.Leu278Gln) n.3071T>A | |
| 2 | g.15402199G>A | CA424868936 | NBAS | c.1137C>T n.3053C>T c.3040C>T (p.Leu1014=) c.332C>T c.181C>T (p.Leu61=) c.183C>T n.3084C>T c.2911C>T (p.Leu971=) c.2401C>T (p.Leu801=) c.841C>T (p.Leu281=) c.832C>T (p.Leu278=) n.3070C>T | gnomAD v4 |
| 2 | g.15402199G>C | CA345881923 | NBAS | c.1137C>G n.3053C>G c.3040C>G (p.Leu1014Val) c.332C>G c.181C>G (p.Leu61Val) c.183C>G n.3084C>G c.2911C>G (p.Leu971Val) c.2401C>G (p.Leu801Val) c.841C>G (p.Leu281Val) c.832C>G (p.Leu278Val) n.3070C>G | |
| 2 | g.15402199G>T | CA345881924 | NBAS | c.1137C>A n.3053C>A c.3040C>A (p.Leu1014Ile) c.332C>A c.181C>A (p.Leu61Ile) c.183C>A n.3084C>A c.2911C>A (p.Leu971Ile) c.2401C>A (p.Leu801Ile) c.841C>A (p.Leu281Ile) c.832C>A (p.Leu278Ile) n.3070C>A | dbSNP |
| 2 | g.15402200G>A | CA424868937 | NBAS | c.1136C>T n.3052C>T c.3039C>T (p.Asp1013=) c.331C>T c.180C>T (p.Asp60=) c.182C>T n.3083C>T c.2910C>T (p.Asp970=) c.2400C>T (p.Asp800=) c.840C>T (p.Asp280=) c.831C>T (p.Asp277=) n.3069C>T | |
| 2 | g.15402200G>C | CA345881926 | NBAS | c.1136C>G n.3052C>G c.3039C>G (p.Asp1013Glu) c.331C>G c.180C>G (p.Asp60Glu) c.182C>G n.3083C>G c.2910C>G (p.Asp970Glu) c.2400C>G (p.Asp800Glu) c.840C>G (p.Asp280Glu) c.831C>G (p.Asp277Glu) n.3069C>G | |
| 2 | g.15402200G= | CA2490879598 | NBAS | c.1136C= n.3052C= c.3039C= (p.Asp1013=) c.331C= c.180C= (p.Asp60=) c.182C= n.3083C= c.2910C= (p.Asp970=) c.2400C= (p.Asp800=) c.840C= (p.Asp280=) c.831C= (p.Asp277=) n.3069C= | |
| 2 | g.15402200G>T | CA1536189 | NBAS | c.1136C>A n.3052C>A c.3039C>A (p.Asp1013Glu) c.331C>A c.180C>A (p.Asp60Glu) c.182C>A n.3083C>A c.2910C>A (p.Asp970Glu) c.2400C>A (p.Asp800Glu) c.840C>A (p.Asp280Glu) c.831C>A (p.Asp277Glu) n.3069C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402201T>A | CA345881929 | NBAS | c.1135A>T n.3051A>T c.3038A>T (p.Asp1013Val) c.330A>T c.179A>T (p.Asp60Val) c.181A>T n.3082A>T c.2909A>T (p.Asp970Val) c.2399A>T (p.Asp800Val) c.839A>T (p.Asp280Val) c.830A>T (p.Asp277Val) n.3068A>T | |
| 2 | g.15402201T>C | CA345881931 | NBAS | c.1135A>G n.3051A>G c.3038A>G (p.Asp1013Gly) c.330A>G c.179A>G (p.Asp60Gly) c.181A>G n.3082A>G c.2909A>G (p.Asp970Gly) c.2399A>G (p.Asp800Gly) c.839A>G (p.Asp280Gly) c.830A>G (p.Asp277Gly) n.3068A>G | |
| 2 | g.15402201T>G | CA345881933 | NBAS | c.1135A>C n.3051A>C c.3038A>C (p.Asp1013Ala) c.330A>C c.179A>C (p.Asp60Ala) c.181A>C n.3082A>C c.2909A>C (p.Asp970Ala) c.2399A>C (p.Asp800Ala) c.839A>C (p.Asp280Ala) c.830A>C (p.Asp277Ala) n.3068A>C | |
| 2 | g.15402202C>A | CA345881935 | NBAS | c.1134G>T n.3050G>T c.3037G>T (p.Asp1013Tyr) c.329G>T c.178G>T (p.Asp60Tyr) c.180G>T n.3081G>T c.2908G>T (p.Asp970Tyr) c.2398G>T (p.Asp800Tyr) c.838G>T (p.Asp280Tyr) c.829G>T (p.Asp277Tyr) n.3067G>T | gnomAD v4 |
| 2 | g.15402202C>G | CA345881936 | NBAS | c.1134G>C n.3050G>C c.3037G>C (p.Asp1013His) c.329G>C c.178G>C (p.Asp60His) c.180G>C n.3081G>C c.2908G>C (p.Asp970His) c.2398G>C (p.Asp800His) c.838G>C (p.Asp280His) c.829G>C (p.Asp277His) n.3067G>C | |
| 2 | g.15402202C>T | CA345881938 | NBAS | c.1134G>A n.3050G>A c.3037G>A (p.Asp1013Asn) c.329G>A c.178G>A (p.Asp60Asn) c.180G>A n.3081G>A c.2908G>A (p.Asp970Asn) c.2398G>A (p.Asp800Asn) c.838G>A (p.Asp280Asn) c.829G>A (p.Asp277Asn) n.3067G>A | |
| 2 | g.15402203A>C | CA345881940 | NBAS | c.1133T>G n.3049T>G c.3036T>G (p.Tyr1012Ter) c.328T>G c.177T>G (p.Tyr59Ter) c.179T>G n.3080T>G c.2907T>G (p.Tyr969Ter) c.2397T>G (p.Tyr799Ter) c.837T>G (p.Tyr279Ter) c.828T>G (p.Tyr276Ter) n.3066T>G | |
| 2 | g.15402203A>G | CA424868938 | NBAS | c.1133T>C n.3049T>C c.3036T>C (p.Tyr1012=) c.328T>C c.177T>C (p.Tyr59=) c.179T>C n.3080T>C c.2907T>C (p.Tyr969=) c.2397T>C (p.Tyr799=) c.837T>C (p.Tyr279=) c.828T>C (p.Tyr276=) n.3066T>C | gnomAD v4 |
| 2 | g.15402203A>T | CA345881941 | NBAS | c.1133T>A n.3049T>A c.3036T>A (p.Tyr1012Ter) c.328T>A c.177T>A (p.Tyr59Ter) c.179T>A n.3080T>A c.2907T>A (p.Tyr969Ter) c.2397T>A (p.Tyr799Ter) c.837T>A (p.Tyr279Ter) c.828T>A (p.Tyr276Ter) n.3066T>A | |
| 2 | g.15402204T>A | CA345881944 | NBAS | c.1132A>T n.3048A>T c.3035A>T (p.Tyr1012Phe) c.327A>T c.176A>T (p.Tyr59Phe) c.178A>T n.3079A>T c.2906A>T (p.Tyr969Phe) c.2396A>T (p.Tyr799Phe) c.836A>T (p.Tyr279Phe) c.827A>T (p.Tyr276Phe) n.3065A>T | |
| 2 | g.15402204T>C | CA1536190 | NBAS | c.1132A>G n.3048A>G c.3035A>G (p.Tyr1012Cys) c.327A>G c.176A>G (p.Tyr59Cys) c.178A>G n.3079A>G c.2906A>G (p.Tyr969Cys) c.2396A>G (p.Tyr799Cys) c.836A>G (p.Tyr279Cys) c.827A>G (p.Tyr276Cys) n.3065A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.15402204T>G | CA345881946 | NBAS | c.1132A>C n.3048A>C c.3035A>C (p.Tyr1012Ser) c.327A>C c.176A>C (p.Tyr59Ser) c.178A>C n.3079A>C c.2906A>C (p.Tyr969Ser) c.2396A>C (p.Tyr799Ser) c.836A>C (p.Tyr279Ser) c.827A>C (p.Tyr276Ser) n.3065A>C | |
| 2 | g.15402204T= | CA2490879599 | NBAS | c.1132A= n.3048A= c.3035A= (p.Tyr1012=) c.327A= c.176A= (p.Tyr59=) c.178A= n.3079A= c.2906A= (p.Tyr969=) c.2396A= (p.Tyr799=) c.836A= (p.Tyr279=) c.827A= (p.Tyr276=) n.3065A= | |
| 2 | g.15402205A>C | CA345881948 | NBAS | c.1131T>G n.3047T>G c.3034T>G (p.Tyr1012Asp) c.326T>G c.175T>G (p.Tyr59Asp) c.177T>G n.3078T>G c.2905T>G (p.Tyr969Asp) c.2395T>G (p.Tyr799Asp) c.835T>G (p.Tyr279Asp) c.826T>G (p.Tyr276Asp) n.3064T>G | |
| 2 | g.15402205A>G | CA345881950 | NBAS | c.1131T>C n.3047T>C c.3034T>C (p.Tyr1012His) c.326T>C c.175T>C (p.Tyr59His) c.177T>C n.3078T>C c.2905T>C (p.Tyr969His) c.2395T>C (p.Tyr799His) c.835T>C (p.Tyr279His) c.826T>C (p.Tyr276His) n.3064T>C | COSMIC |
| 2 | g.15402205A>T | CA345881951 | NBAS | c.1131T>A n.3047T>A c.3034T>A (p.Tyr1012Asn) c.326T>A c.175T>A (p.Tyr59Asn) c.177T>A n.3078T>A c.2905T>A (p.Tyr969Asn) c.2395T>A (p.Tyr799Asn) c.835T>A (p.Tyr279Asn) c.826T>A (p.Tyr276Asn) n.3064T>A | |
| 2 | g.15402206G>A | CA424868939 | NBAS | c.1130C>T n.3046C>T c.3033C>T (p.Cys1011=) c.325C>T c.174C>T (p.Cys58=) c.176C>T n.3077C>T c.2904C>T (p.Cys968=) c.2394C>T (p.Cys798=) c.834C>T (p.Cys278=) c.825C>T (p.Cys275=) n.3063C>T | |
| 2 | g.15402206G>C | CA345881953 | NBAS | c.1130C>G n.3046C>G c.3033C>G (p.Cys1011Trp) c.325C>G c.174C>G (p.Cys58Trp) c.176C>G n.3077C>G c.2904C>G (p.Cys968Trp) c.2394C>G (p.Cys798Trp) c.834C>G (p.Cys278Trp) c.825C>G (p.Cys275Trp) n.3063C>G | |
| 2 | g.15402206G>T | CA345881954 | NBAS | c.1130C>A n.3046C>A c.3033C>A (p.Cys1011Ter) c.325C>A c.174C>A (p.Cys58Ter) c.176C>A n.3077C>A c.2904C>A (p.Cys968Ter) c.2394C>A (p.Cys798Ter) c.834C>A (p.Cys278Ter) c.825C>A (p.Cys275Ter) n.3063C>A | |
| 2 | g.15402207C>A | CA345881955 | NBAS | c.1129G>T n.3045G>T c.3032G>T (p.Cys1011Phe) c.324G>T c.173G>T (p.Cys58Phe) c.175G>T n.3076G>T c.2903G>T (p.Cys968Phe) c.2393G>T (p.Cys798Phe) c.833G>T (p.Cys278Phe) c.824G>T (p.Cys275Phe) n.3062G>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15402207C= | CA2490879600 | NBAS | c.1129G= n.3045G= c.3032G= (p.Cys1011=) c.324G= c.173G= (p.Cys58=) c.175G= n.3076G= c.2903G= (p.Cys968=) c.2393G= (p.Cys798=) c.833G= (p.Cys278=) c.824G= (p.Cys275=) n.3062G= | |
| 2 | g.15402207C>G | CA345881957 | NBAS | c.1129G>C n.3045G>C c.3032G>C (p.Cys1011Ser) c.324G>C c.173G>C (p.Cys58Ser) c.175G>C n.3076G>C c.2903G>C (p.Cys968Ser) c.2393G>C (p.Cys798Ser) c.833G>C (p.Cys278Ser) c.824G>C (p.Cys275Ser) n.3062G>C | |
| 2 | g.15402207C>T | CA345881958 | NBAS | c.1129G>A n.3045G>A c.3032G>A (p.Cys1011Tyr) c.324G>A c.173G>A (p.Cys58Tyr) c.175G>A n.3076G>A c.2903G>A (p.Cys968Tyr) c.2393G>A (p.Cys798Tyr) c.833G>A (p.Cys278Tyr) c.824G>A (p.Cys275Tyr) n.3062G>A | |
| 2 | g.15402208A= | CA2490879601 | NBAS | c.1128T= n.3044T= c.3031T= (p.Cys1011=) c.323T= c.172T= (p.Cys58=) c.174T= n.3075T= c.2902T= (p.Cys968=) c.2392T= (p.Cys798=) c.832T= (p.Cys278=) c.823T= (p.Cys275=) n.3061T= | |
| 2 | g.15402208A>C | CA345881959 | NBAS | c.1128T>G n.3044T>G c.3031T>G (p.Cys1011Gly) c.323T>G c.172T>G (p.Cys58Gly) c.174T>G n.3075T>G c.2902T>G (p.Cys968Gly) c.2392T>G (p.Cys798Gly) c.832T>G (p.Cys278Gly) c.823T>G (p.Cys275Gly) n.3061T>G | |
| 2 | g.15402208A>G | CA345881961 | NBAS | c.1128T>C n.3044T>C c.3031T>C (p.Cys1011Arg) c.323T>C c.172T>C (p.Cys58Arg) c.174T>C n.3075T>C c.2902T>C (p.Cys968Arg) c.2392T>C (p.Cys798Arg) c.832T>C (p.Cys278Arg) c.823T>C (p.Cys275Arg) n.3061T>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402208A>T | CA345881962 | NBAS | c.1128T>A n.3044T>A c.3031T>A (p.Cys1011Ser) c.323T>A c.172T>A (p.Cys58Ser) c.174T>A n.3075T>A c.2902T>A (p.Cys968Ser) c.2392T>A (p.Cys798Ser) c.832T>A (p.Cys278Ser) c.823T>A (p.Cys275Ser) n.3061T>A | |
| 2 | g.15402209A= | CA2490879602 | NBAS | c.1127T= n.3043T= c.3030T= (p.Leu1010=) c.322T= c.171T= (p.Leu57=) c.173T= n.3074T= c.2901T= (p.Leu967=) c.2391T= (p.Leu797=) c.831T= (p.Leu277=) c.822T= (p.Leu274=) n.3060T= | |
| 2 | g.15402209A>C | CA424868940 | NBAS | c.1127T>G n.3043T>G c.3030T>G (p.Leu1010=) c.322T>G c.171T>G (p.Leu57=) c.173T>G n.3074T>G c.2901T>G (p.Leu967=) c.2391T>G (p.Leu797=) c.831T>G (p.Leu277=) c.822T>G (p.Leu274=) n.3060T>G | |
| 2 | g.15402209A>G | CA424868941 | NBAS | c.1127T>C n.3043T>C c.3030T>C (p.Leu1010=) c.322T>C c.171T>C (p.Leu57=) c.173T>C n.3074T>C c.2901T>C (p.Leu967=) c.2391T>C (p.Leu797=) c.831T>C (p.Leu277=) c.822T>C (p.Leu274=) n.3060T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15402209A>T | CA424868942 | NBAS | c.1127T>A n.3043T>A c.3030T>A (p.Leu1010=) c.322T>A c.171T>A (p.Leu57=) c.173T>A n.3074T>A c.2901T>A (p.Leu967=) c.2391T>A (p.Leu797=) c.831T>A (p.Leu277=) c.822T>A (p.Leu274=) n.3060T>A | |
| 2 | g.15402210A>C | CA345881967 | NBAS | c.1126T>G n.3042T>G c.3029T>G (p.Leu1010Arg) c.321T>G c.170T>G (p.Leu57Arg) c.172T>G n.3073T>G c.2900T>G (p.Leu967Arg) c.2390T>G (p.Leu797Arg) c.830T>G (p.Leu277Arg) c.821T>G (p.Leu274Arg) n.3059T>G | |
| 2 | g.15402210A>G | CA345881965 | NBAS | c.1126T>C n.3042T>C c.3029T>C (p.Leu1010Pro) c.321T>C c.170T>C (p.Leu57Pro) c.172T>C n.3073T>C c.2900T>C (p.Leu967Pro) c.2390T>C (p.Leu797Pro) c.830T>C (p.Leu277Pro) c.821T>C (p.Leu274Pro) n.3059T>C | |
| 2 | g.15402210A>T | CA345881964 | NBAS | c.1126T>A n.3042T>A c.3029T>A (p.Leu1010His) c.321T>A c.170T>A (p.Leu57His) c.172T>A n.3073T>A c.2900T>A (p.Leu967His) c.2390T>A (p.Leu797His) c.830T>A (p.Leu277His) c.821T>A (p.Leu274His) n.3059T>A | |
| 2 | g.15402211G>A | CA345881968 | NBAS | c.1125C>T n.3041C>T c.3028C>T (p.Leu1010Phe) c.320C>T c.169C>T (p.Leu57Phe) c.171C>T n.3072C>T c.2899C>T (p.Leu967Phe) c.2389C>T (p.Leu797Phe) c.829C>T (p.Leu277Phe) c.820C>T (p.Leu274Phe) n.3058C>T | |
| 2 | g.15402211G>C | CA345881970 | NBAS | c.1125C>G n.3041C>G c.3028C>G (p.Leu1010Val) c.320C>G c.169C>G (p.Leu57Val) c.171C>G n.3072C>G c.2899C>G (p.Leu967Val) c.2389C>G (p.Leu797Val) c.829C>G (p.Leu277Val) c.820C>G (p.Leu274Val) n.3058C>G | |
| 2 | g.15402211G>T | CA345881972 | NBAS | c.1125C>A n.3041C>A c.3028C>A (p.Leu1010Ile) c.320C>A c.169C>A (p.Leu57Ile) c.171C>A n.3072C>A c.2899C>A (p.Leu967Ile) c.2389C>A (p.Leu797Ile) c.829C>A (p.Leu277Ile) c.820C>A (p.Leu274Ile) n.3058C>A | |
| 2 | g.15402212A>C | CA345881974 | NBAS | c.1124T>G n.3040T>G c.3027T>G (p.Cys1009Trp) c.319T>G c.168T>G (p.Cys56Trp) c.170T>G n.3071T>G c.2898T>G (p.Cys966Trp) c.2388T>G (p.Cys796Trp) c.828T>G (p.Cys276Trp) c.819T>G (p.Cys273Trp) n.3057T>G | |
| 2 | g.15402212A>G | CA424868943 | NBAS | c.1124T>C n.3040T>C c.3027T>C (p.Cys1009=) c.319T>C c.168T>C (p.Cys56=) c.170T>C n.3071T>C c.2898T>C (p.Cys966=) c.2388T>C (p.Cys796=) c.828T>C (p.Cys276=) c.819T>C (p.Cys273=) n.3057T>C | |
| 2 | g.15402212A>T | CA345881975 | NBAS | c.1124T>A n.3040T>A c.3027T>A (p.Cys1009Ter) c.319T>A c.168T>A (p.Cys56Ter) c.170T>A n.3071T>A c.2898T>A (p.Cys966Ter) c.2388T>A (p.Cys796Ter) c.828T>A (p.Cys276Ter) c.819T>A (p.Cys273Ter) n.3057T>A | |
| 2 | g.15402213C>A | CA345881977 | NBAS | c.1123G>T n.3039G>T c.3026G>T (p.Cys1009Phe) c.318G>T c.167G>T (p.Cys56Phe) c.169G>T n.3070G>T c.2897G>T (p.Cys966Phe) c.2387G>T (p.Cys796Phe) c.827G>T (p.Cys276Phe) c.818G>T (p.Cys273Phe) n.3056G>T | |
| 2 | g.15402213C= | CA2490879603 | NBAS | c.1123G= n.3039G= c.3026G= (p.Cys1009=) c.318G= c.167G= (p.Cys56=) c.169G= n.3070G= c.2897G= (p.Cys966=) c.2387G= (p.Cys796=) c.827G= (p.Cys276=) c.818G= (p.Cys273=) n.3056G= | |
| 2 | g.15402213C>G | CA1536191 | NBAS | c.1123G>C n.3039G>C c.3026G>C (p.Cys1009Ser) c.318G>C c.167G>C (p.Cys56Ser) c.169G>C n.3070G>C c.2897G>C (p.Cys966Ser) c.2387G>C (p.Cys796Ser) c.827G>C (p.Cys276Ser) c.818G>C (p.Cys273Ser) n.3056G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402213C>T | CA345881980 | NBAS | c.1123G>A n.3039G>A c.3026G>A (p.Cys1009Tyr) c.318G>A c.167G>A (p.Cys56Tyr) c.169G>A n.3070G>A c.2897G>A (p.Cys966Tyr) c.2387G>A (p.Cys796Tyr) c.827G>A (p.Cys276Tyr) c.818G>A (p.Cys273Tyr) n.3056G>A | |
| 2 | g.15402214A>C | CA345881982 | NBAS | c.1122T>G n.3038T>G c.3025T>G (p.Cys1009Gly) c.317T>G c.166T>G (p.Cys56Gly) c.168T>G n.3069T>G c.2896T>G (p.Cys966Gly) c.2386T>G (p.Cys796Gly) c.826T>G (p.Cys276Gly) c.817T>G (p.Cys273Gly) n.3055T>G | |
| 2 | g.15402214A>G | CA345881988 | NBAS | c.1122T>C n.3038T>C c.3025T>C (p.Cys1009Arg) c.317T>C c.166T>C (p.Cys56Arg) c.168T>C n.3069T>C c.2896T>C (p.Cys966Arg) c.2386T>C (p.Cys796Arg) c.826T>C (p.Cys276Arg) c.817T>C (p.Cys273Arg) n.3055T>C | |
| 2 | g.15402214A>T | CA345881990 | NBAS | c.1122T>A n.3038T>A c.3025T>A (p.Cys1009Ser) c.317T>A c.166T>A (p.Cys56Ser) c.168T>A n.3069T>A c.2896T>A (p.Cys966Ser) c.2386T>A (p.Cys796Ser) c.826T>A (p.Cys276Ser) c.817T>A (p.Cys273Ser) n.3055T>A | |
| 2 | g.15402216_15402217del | CA2698761892 | NBAS | c.1121_1122del n.3037_3038del c.3024_3025del (p.Cys1009SerfsTer4) c.316_317del c.165_166del (p.Cys56SerfsTer4) c.167_168del n.3068_3069del c.2895_2896del (p.Cys966SerfsTer4) c.2385_2386del (p.Cys796SerfsTer4) c.825_826del (p.Cys276SerfsTer4) c.816_817del (p.Cys273SerfsTer4) n.3054_3055del | dbSNP |
| 2 | g.15402215G>A | CA424868944 | NBAS | c.1121C>T n.3037C>T c.3024C>T (p.Leu1008=) c.316C>T c.165C>T (p.Leu55=) c.167C>T n.3068C>T c.2895C>T (p.Leu965=) c.2385C>T (p.Leu795=) c.825C>T (p.Leu275=) c.816C>T (p.Leu272=) n.3054C>T | ClinVar |
| 2 | g.15402215G>C | CA424868945 | NBAS | c.1121C>G n.3037C>G c.3024C>G (p.Leu1008=) c.316C>G c.165C>G (p.Leu55=) c.167C>G n.3068C>G c.2895C>G (p.Leu965=) c.2385C>G (p.Leu795=) c.825C>G (p.Leu275=) c.816C>G (p.Leu272=) n.3054C>G | |
| 2 | g.15402215G>T | CA424868946 | NBAS | c.1121C>A n.3037C>A c.3024C>A (p.Leu1008=) c.316C>A c.165C>A (p.Leu55=) c.167C>A n.3068C>A c.2895C>A (p.Leu965=) c.2385C>A (p.Leu795=) c.825C>A (p.Leu275=) c.816C>A (p.Leu272=) n.3054C>A | |
| 2 | g.15402216A>C | CA345881997 | NBAS | c.1120T>G n.3036T>G c.3023T>G (p.Leu1008Arg) c.315T>G c.164T>G (p.Leu55Arg) c.166T>G n.3067T>G c.2894T>G (p.Leu965Arg) c.2384T>G (p.Leu795Arg) c.824T>G (p.Leu275Arg) c.815T>G (p.Leu272Arg) n.3053T>G | |
| 2 | g.15402216A>G | CA345881995 | NBAS | c.1120T>C n.3036T>C c.3023T>C (p.Leu1008Pro) c.315T>C c.164T>C (p.Leu55Pro) c.166T>C n.3067T>C c.2894T>C (p.Leu965Pro) c.2384T>C (p.Leu795Pro) c.824T>C (p.Leu275Pro) c.815T>C (p.Leu272Pro) n.3053T>C | |
| 2 | g.15402216A>T | CA345881993 | NBAS | c.1120T>A n.3036T>A c.3023T>A (p.Leu1008His) c.315T>A c.164T>A (p.Leu55His) c.166T>A n.3067T>A c.2894T>A (p.Leu965His) c.2384T>A (p.Leu795His) c.824T>A (p.Leu275His) c.815T>A (p.Leu272His) n.3053T>A | |
| 2 | g.15402217G>A | CA345881998 | NBAS | c.1119C>T n.3035C>T c.3022C>T (p.Leu1008Phe) c.314C>T c.163C>T (p.Leu55Phe) c.165C>T n.3066C>T c.2893C>T (p.Leu965Phe) c.2383C>T (p.Leu795Phe) c.823C>T (p.Leu275Phe) c.814C>T (p.Leu272Phe) n.3052C>T | |
| 2 | g.15402217G>C | CA345881999 | NBAS | c.1119C>G n.3035C>G c.3022C>G (p.Leu1008Val) c.314C>G c.163C>G (p.Leu55Val) c.165C>G n.3066C>G c.2893C>G (p.Leu965Val) c.2383C>G (p.Leu795Val) c.823C>G (p.Leu275Val) c.814C>G (p.Leu272Val) n.3052C>G | gnomAD v4 |
| 2 | g.15402217G>T | CA345882000 | NBAS | c.1119C>A n.3035C>A c.3022C>A (p.Leu1008Ile) c.314C>A c.163C>A (p.Leu55Ile) c.165C>A n.3066C>A c.2893C>A (p.Leu965Ile) c.2383C>A (p.Leu795Ile) c.823C>A (p.Leu275Ile) c.814C>A (p.Leu272Ile) n.3052C>A | |
| 2 | g.15402218T>A | CA345882001 | NBAS | c.1118A>T n.3034A>T c.3021A>T (p.Gln1007His) c.313A>T c.162A>T (p.Gln54His) c.164A>T n.3065A>T c.2892A>T (p.Gln964His) c.2382A>T (p.Gln794His) c.822A>T (p.Gln274His) c.813A>T (p.Gln271His) n.3051A>T | |
| 2 | g.15402218T>C | CA424868947 | NBAS | c.1118A>G n.3034A>G c.3021A>G (p.Gln1007=) c.313A>G c.162A>G (p.Gln54=) c.164A>G n.3065A>G c.2892A>G (p.Gln964=) c.2382A>G (p.Gln794=) c.822A>G (p.Gln274=) c.813A>G (p.Gln271=) n.3051A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402218T>G | CA345882003 | NBAS | c.1118A>C n.3034A>C c.3021A>C (p.Gln1007His) c.313A>C c.162A>C (p.Gln54His) c.164A>C n.3065A>C c.2892A>C (p.Gln964His) c.2382A>C (p.Gln794His) c.822A>C (p.Gln274His) c.813A>C (p.Gln271His) n.3051A>C | |
| 2 | g.15402218T= | CA2490879604 | NBAS | c.1118A= n.3034A= c.3021A= (p.Gln1007=) c.313A= c.162A= (p.Gln54=) c.164A= n.3065A= c.2892A= (p.Gln964=) c.2382A= (p.Gln794=) c.822A= (p.Gln274=) c.813A= (p.Gln271=) n.3051A= | |
| 2 | g.15402219T>A | CA345882005 | NBAS | c.1117A>T n.3033A>T c.3020A>T (p.Gln1007Leu) c.312A>T c.161A>T (p.Gln54Leu) c.163A>T n.3064A>T c.2891A>T (p.Gln964Leu) c.2381A>T (p.Gln794Leu) c.821A>T (p.Gln274Leu) c.812A>T (p.Gln271Leu) n.3050A>T | |
| 2 | g.15402219T>C | CA345882006 | NBAS | c.1117A>G n.3033A>G c.3020A>G (p.Gln1007Arg) c.312A>G c.161A>G (p.Gln54Arg) c.163A>G n.3064A>G c.2891A>G (p.Gln964Arg) c.2381A>G (p.Gln794Arg) c.821A>G (p.Gln274Arg) c.812A>G (p.Gln271Arg) n.3050A>G | gnomAD v4 |
| 2 | g.15402219T>G | CA345882008 | NBAS | c.1117A>C n.3033A>C c.3020A>C (p.Gln1007Pro) c.312A>C c.161A>C (p.Gln54Pro) c.163A>C n.3064A>C c.2891A>C (p.Gln964Pro) c.2381A>C (p.Gln794Pro) c.821A>C (p.Gln274Pro) c.812A>C (p.Gln271Pro) n.3050A>C | |
| 2 | g.15402220del | CA2576680855 | NBAS | c.1116del n.3032del c.3019del (p.Gln1007AsnfsTer9) c.311del c.160del (p.Gln54AsnfsTer9) c.162del n.3063del c.2890del (p.Gln964AsnfsTer9) c.2380del (p.Gln794AsnfsTer9) c.820del (p.Gln274AsnfsTer9) c.811del (p.Gln271AsnfsTer9) n.3049del | |
| 2 | g.15402220G>A | CA345882009 | NBAS | c.1116C>T n.3032C>T c.3019C>T (p.Gln1007Ter) c.311C>T c.160C>T (p.Gln54Ter) c.162C>T n.3063C>T c.2890C>T (p.Gln964Ter) c.2380C>T (p.Gln794Ter) c.820C>T (p.Gln274Ter) c.811C>T (p.Gln271Ter) n.3049C>T | gnomAD v4 COSMIC |
| 2 | g.15402220G>C | CA345882010 | NBAS | c.1116C>G n.3032C>G c.3019C>G (p.Gln1007Glu) c.311C>G c.160C>G (p.Gln54Glu) c.162C>G n.3063C>G c.2890C>G (p.Gln964Glu) c.2380C>G (p.Gln794Glu) c.820C>G (p.Gln274Glu) c.811C>G (p.Gln271Glu) n.3049C>G | |
| 2 | g.15402220G>T | CA345882011 | NBAS | c.1116C>A n.3032C>A c.3019C>A (p.Gln1007Lys) c.311C>A c.160C>A (p.Gln54Lys) c.162C>A n.3063C>A c.2890C>A (p.Gln964Lys) c.2380C>A (p.Gln794Lys) c.820C>A (p.Gln274Lys) c.811C>A (p.Gln271Lys) n.3049C>A | gnomAD v4 |
| 2 | g.15402221A>C | CA345882012 | NBAS | c.1115T>G n.3031T>G c.3018T>G (p.Asp1006Glu) c.310T>G c.159T>G (p.Asp53Glu) c.161T>G n.3062T>G c.2889T>G (p.Asp963Glu) c.2379T>G (p.Asp793Glu) c.819T>G (p.Asp273Glu) c.810T>G (p.Asp270Glu) n.3048T>G | gnomAD v4 |
| 2 | g.15402221A>G | CA424868948 | NBAS | c.1115T>C n.3031T>C c.3018T>C (p.Asp1006=) c.310T>C c.159T>C (p.Asp53=) c.161T>C n.3062T>C c.2889T>C (p.Asp963=) c.2379T>C (p.Asp793=) c.819T>C (p.Asp273=) c.810T>C (p.Asp270=) n.3048T>C | gnomAD v4 |
| 2 | g.15402221A>T | CA345882013 | NBAS | c.1115T>A n.3031T>A c.3018T>A (p.Asp1006Glu) c.310T>A c.159T>A (p.Asp53Glu) c.161T>A n.3062T>A c.2889T>A (p.Asp963Glu) c.2379T>A (p.Asp793Glu) c.819T>A (p.Asp273Glu) c.810T>A (p.Asp270Glu) n.3048T>A | |
| 2 | g.15402222T>A | CA1536192 | NBAS | c.1114A>T n.3030A>T c.3017A>T (p.Asp1006Val) c.309A>T c.158A>T (p.Asp53Val) c.160A>T n.3061A>T c.2888A>T (p.Asp963Val) c.2378A>T (p.Asp793Val) c.818A>T (p.Asp273Val) c.809A>T (p.Asp270Val) n.3047A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402222T>C | CA345882015 | NBAS | c.1114A>G n.3030A>G c.3017A>G (p.Asp1006Gly) c.309A>G c.158A>G (p.Asp53Gly) c.160A>G n.3061A>G c.2888A>G (p.Asp963Gly) c.2378A>G (p.Asp793Gly) c.818A>G (p.Asp273Gly) c.809A>G (p.Asp270Gly) n.3047A>G | |
| 2 | g.15402222T>G | CA345882017 | NBAS | c.1114A>C n.3030A>C c.3017A>C (p.Asp1006Ala) c.309A>C c.158A>C (p.Asp53Ala) c.160A>C n.3061A>C c.2888A>C (p.Asp963Ala) c.2378A>C (p.Asp793Ala) c.818A>C (p.Asp273Ala) c.809A>C (p.Asp270Ala) n.3047A>C | |
| 2 | g.15402222T= | CA2490879605 | NBAS | c.1114A= n.3030A= c.3017A= (p.Asp1006=) c.309A= c.158A= (p.Asp53=) c.160A= n.3061A= c.2888A= (p.Asp963=) c.2378A= (p.Asp793=) c.818A= (p.Asp273=) c.809A= (p.Asp270=) n.3047A= | |
| 2 | g.15402223C>A | CA345882020 | NBAS | c.1113G>T n.3029G>T c.3016G>T (p.Asp1006Tyr) c.308G>T c.157G>T (p.Asp53Tyr) c.159G>T n.3060G>T c.2887G>T (p.Asp963Tyr) c.2377G>T (p.Asp793Tyr) c.817G>T (p.Asp273Tyr) c.808G>T (p.Asp270Tyr) n.3046G>T | gnomAD v4 |
| 2 | g.15402223C>G | CA345882022 | NBAS | c.1113G>C n.3029G>C c.3016G>C (p.Asp1006His) c.308G>C c.157G>C (p.Asp53His) c.159G>C n.3060G>C c.2887G>C (p.Asp963His) c.2377G>C (p.Asp793His) c.817G>C (p.Asp273His) c.808G>C (p.Asp270His) n.3046G>C | |
| 2 | g.15402223C>T | CA345882024 | NBAS | c.1113G>A n.3029G>A c.3016G>A (p.Asp1006Asn) c.308G>A c.157G>A (p.Asp53Asn) c.159G>A n.3060G>A c.2887G>A (p.Asp963Asn) c.2377G>A (p.Asp793Asn) c.817G>A (p.Asp273Asn) c.808G>A (p.Asp270Asn) n.3046G>A | |
| 2 | g.15402224A>C | CA345882027 | NBAS | c.1112T>G n.3028T>G c.3015T>G (p.Asn1005Lys) c.307T>G c.156T>G (p.Asn52Lys) c.158T>G n.3059T>G c.2886T>G (p.Asn962Lys) c.2376T>G (p.Asn792Lys) c.816T>G (p.Asn272Lys) c.807T>G (p.Asn269Lys) n.3045T>G | gnomAD v4 |
| 2 | g.15402224A>G | CA424868949 | NBAS | c.1112T>C n.3028T>C c.3015T>C (p.Asn1005=) c.307T>C c.156T>C (p.Asn52=) c.158T>C n.3059T>C c.2886T>C (p.Asn962=) c.2376T>C (p.Asn792=) c.816T>C (p.Asn272=) c.807T>C (p.Asn269=) n.3045T>C | gnomAD v4 |
| 2 | g.15402224A>T | CA345882028 | NBAS | c.1112T>A n.3028T>A c.3015T>A (p.Asn1005Lys) c.307T>A c.156T>A (p.Asn52Lys) c.158T>A n.3059T>A c.2886T>A (p.Asn962Lys) c.2376T>A (p.Asn792Lys) c.816T>A (p.Asn272Lys) c.807T>A (p.Asn269Lys) n.3045T>A | |
| 2 | g.15402225T>A | CA345882030 | NBAS | c.1111A>T n.3027A>T c.3014A>T (p.Asn1005Ile) c.306A>T c.155A>T (p.Asn52Ile) c.157A>T n.3058A>T c.2885A>T (p.Asn962Ile) c.2375A>T (p.Asn792Ile) c.815A>T (p.Asn272Ile) c.806A>T (p.Asn269Ile) n.3044A>T | gnomAD v4 |
| 2 | g.15402225T>C | CA42621728 | NBAS | c.1111A>G n.3027A>G c.3014A>G (p.Asn1005Ser) c.306A>G c.155A>G (p.Asn52Ser) c.157A>G n.3058A>G c.2885A>G (p.Asn962Ser) c.2375A>G (p.Asn792Ser) c.815A>G (p.Asn272Ser) c.806A>G (p.Asn269Ser) n.3044A>G | dbSNP |
| 2 | g.15402225T>G | CA345882032 | NBAS | c.1111A>C n.3027A>C c.3014A>C (p.Asn1005Thr) c.306A>C c.155A>C (p.Asn52Thr) c.157A>C n.3058A>C c.2885A>C (p.Asn962Thr) c.2375A>C (p.Asn792Thr) c.815A>C (p.Asn272Thr) c.806A>C (p.Asn269Thr) n.3044A>C | |
| 2 | g.15402225T= | CA2490879606 | NBAS | c.1111A= n.3027A= c.3014A= (p.Asn1005=) c.306A= c.155A= (p.Asn52=) c.157A= n.3058A= c.2885A= (p.Asn962=) c.2375A= (p.Asn792=) c.815A= (p.Asn272=) c.806A= (p.Asn269=) n.3044A= | |
| 2 | g.15402226T>A | CA345882034 | NBAS | c.1110A>T n.3026A>T c.3013A>T (p.Asn1005Tyr) c.305A>T c.154A>T (p.Asn52Tyr) c.156A>T n.3057A>T c.2884A>T (p.Asn962Tyr) c.2374A>T (p.Asn792Tyr) c.814A>T (p.Asn272Tyr) c.805A>T (p.Asn269Tyr) n.3043A>T | |
| 2 | g.15402226T>C | CA345882039 | NBAS | c.1110A>G n.3026A>G c.3013A>G (p.Asn1005Asp) c.305A>G c.154A>G (p.Asn52Asp) c.156A>G n.3057A>G c.2884A>G (p.Asn962Asp) c.2374A>G (p.Asn792Asp) c.814A>G (p.Asn272Asp) c.805A>G (p.Asn269Asp) n.3043A>G | |
| 2 | g.15402226T>G | CA345882042 | NBAS | c.1110A>C n.3026A>C c.3013A>C (p.Asn1005His) c.305A>C c.154A>C (p.Asn52His) c.156A>C n.3057A>C c.2884A>C (p.Asn962His) c.2374A>C (p.Asn792His) c.814A>C (p.Asn272His) c.805A>C (p.Asn269His) n.3043A>C | |
| 2 | g.15402227T>A | CA424868950 | NBAS | c.1109A>T n.3025A>T c.3012A>T (p.Arg1004=) c.304A>T c.153A>T (p.Arg51=) c.155A>T n.3056A>T c.2883A>T (p.Arg961=) c.2373A>T (p.Arg791=) c.813A>T (p.Arg271=) c.804A>T (p.Arg268=) n.3042A>T | |
| 2 | g.15402227T>C | CA424868952 | NBAS | c.1109A>G n.3025A>G c.3012A>G (p.Arg1004=) c.304A>G c.153A>G (p.Arg51=) c.155A>G n.3056A>G c.2883A>G (p.Arg961=) c.2373A>G (p.Arg791=) c.813A>G (p.Arg271=) c.804A>G (p.Arg268=) n.3042A>G | |
| 2 | g.15402227T>G | CA424868951 | NBAS | c.1109A>C n.3025A>C c.3012A>C (p.Arg1004=) c.304A>C c.153A>C (p.Arg51=) c.155A>C n.3056A>C c.2883A>C (p.Arg961=) c.2373A>C (p.Arg791=) c.813A>C (p.Arg271=) c.804A>C (p.Arg268=) n.3042A>C | ClinVar dbSNP gnomAD v4 |
| 2 | g.15402228C>A | CA345882046 | NBAS | c.1108G>T n.3024G>T c.3011G>T (p.Arg1004Leu) c.303G>T c.152G>T (p.Arg51Leu) c.154G>T n.3055G>T c.2882G>T (p.Arg961Leu) c.2372G>T (p.Arg791Leu) c.812G>T (p.Arg271Leu) c.803G>T (p.Arg268Leu) n.3041G>T | |
| 2 | g.15402228C= | CA2490879607 | NBAS | c.1108G= n.3024G= c.3011G= (p.Arg1004=) c.303G= c.152G= (p.Arg51=) c.154G= n.3055G= c.2882G= (p.Arg961=) c.2372G= (p.Arg791=) c.812G= (p.Arg271=) c.803G= (p.Arg268=) n.3041G= | |
| 2 | g.15402228C>G | CA345882044 | NBAS | c.1108G>C n.3024G>C c.3011G>C (p.Arg1004Pro) c.303G>C c.152G>C (p.Arg51Pro) c.154G>C n.3055G>C c.2882G>C (p.Arg961Pro) c.2372G>C (p.Arg791Pro) c.812G>C (p.Arg271Pro) c.803G>C (p.Arg268Pro) n.3041G>C | |
| 2 | g.15402228C>T | CA1536193 | NBAS | c.1108G>A n.3024G>A c.3011G>A (p.Arg1004Gln) c.303G>A c.152G>A (p.Arg51Gln) c.154G>A n.3055G>A c.2882G>A (p.Arg961Gln) c.2372G>A (p.Arg791Gln) c.812G>A (p.Arg271Gln) c.803G>A (p.Arg268Gln) n.3041G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402229G>A | CA1536194 | NBAS | c.1107C>T n.3023C>T c.3010C>T (p.Arg1004Ter) c.302C>T c.151C>T (p.Arg51Ter) c.153C>T n.3054C>T c.2881C>T (p.Arg961Ter) c.2371C>T (p.Arg791Ter) c.811C>T (p.Arg271Ter) c.802C>T (p.Arg268Ter) n.3040C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402229G>C | CA345882048 | NBAS | c.1107C>G n.3023C>G c.3010C>G (p.Arg1004Gly) c.302C>G c.151C>G (p.Arg51Gly) c.153C>G n.3054C>G c.2881C>G (p.Arg961Gly) c.2371C>G (p.Arg791Gly) c.811C>G (p.Arg271Gly) c.802C>G (p.Arg268Gly) n.3040C>G | dbSNP gnomAD v4 |
| 2 | g.15402229G= | CA2490879608 | NBAS | c.1107C= n.3023C= c.3010C= (p.Arg1004=) c.302C= c.151C= (p.Arg51=) c.153C= n.3054C= c.2881C= (p.Arg961=) c.2371C= (p.Arg791=) c.811C= (p.Arg271=) c.802C= (p.Arg268=) n.3040C= | |
| 2 | g.15402229G>T | CA424868953 | NBAS | c.1107C>A n.3023C>A c.3010C>A (p.Arg1004=) c.302C>A c.151C>A (p.Arg51=) c.153C>A n.3054C>A c.2881C>A (p.Arg961=) c.2371C>A (p.Arg791=) c.811C>A (p.Arg271=) c.802C>A (p.Arg268=) n.3040C>A | |
| 2 | g.15402230T>A | CA345882050 | NBAS | c.1106A>T n.3022A>T c.3009A>T (p.Glu1003Asp) c.301A>T c.150A>T (p.Glu50Asp) c.152A>T n.3053A>T c.2880A>T (p.Glu960Asp) c.2370A>T (p.Glu790Asp) c.810A>T (p.Glu270Asp) c.801A>T (p.Glu267Asp) n.3039A>T | |
| 2 | g.15402230T>C | CA424868954 | NBAS | c.1106A>G n.3022A>G c.3009A>G (p.Glu1003=) c.301A>G c.150A>G (p.Glu50=) c.152A>G n.3053A>G c.2880A>G (p.Glu960=) c.2370A>G (p.Glu790=) c.810A>G (p.Glu270=) c.801A>G (p.Glu267=) n.3039A>G | ClinVar gnomAD v4 |
| 2 | g.15402230T>G | CA345882052 | NBAS | c.1106A>C n.3022A>C c.3009A>C (p.Glu1003Asp) c.301A>C c.150A>C (p.Glu50Asp) c.152A>C n.3053A>C c.2880A>C (p.Glu960Asp) c.2370A>C (p.Glu790Asp) c.810A>C (p.Glu270Asp) c.801A>C (p.Glu267Asp) n.3039A>C | |
| 2 | g.15402231T>A | CA345882053 | NBAS | c.1105A>T n.3021A>T c.3008A>T (p.Glu1003Val) c.300A>T c.149A>T (p.Glu50Val) c.151A>T n.3052A>T c.2879A>T (p.Glu960Val) c.2369A>T (p.Glu790Val) c.809A>T (p.Glu270Val) c.800A>T (p.Glu267Val) n.3038A>T | |
| 2 | g.15402231T>C | CA345882055 | NBAS | c.1105A>G n.3021A>G c.3008A>G (p.Glu1003Gly) c.300A>G c.149A>G (p.Glu50Gly) c.151A>G n.3052A>G c.2879A>G (p.Glu960Gly) c.2369A>G (p.Glu790Gly) c.809A>G (p.Glu270Gly) c.800A>G (p.Glu267Gly) n.3038A>G | |
| 2 | g.15402231T>G | CA345882057 | NBAS | c.1105A>C n.3021A>C c.3008A>C (p.Glu1003Ala) c.300A>C c.149A>C (p.Glu50Ala) c.151A>C n.3052A>C c.2879A>C (p.Glu960Ala) c.2369A>C (p.Glu790Ala) c.809A>C (p.Glu270Ala) c.800A>C (p.Glu267Ala) n.3038A>C | |
| 2 | g.15402232C>A | CA345882058 | NBAS | c.1104G>T n.3020G>T c.3007G>T (p.Glu1003Ter) c.299G>T c.148G>T (p.Glu50Ter) c.150G>T n.3051G>T c.2878G>T (p.Glu960Ter) c.2368G>T (p.Glu790Ter) c.808G>T (p.Glu270Ter) c.799G>T (p.Glu267Ter) n.3037G>T | |
| 2 | g.15402232C>G | CA345882059 | NBAS | c.1104G>C n.3020G>C c.3007G>C (p.Glu1003Gln) c.299G>C c.148G>C (p.Glu50Gln) c.150G>C n.3051G>C c.2878G>C (p.Glu960Gln) c.2368G>C (p.Glu790Gln) c.808G>C (p.Glu270Gln) c.799G>C (p.Glu267Gln) n.3037G>C | |
| 2 | g.15402232C>T | CA345882060 | NBAS | c.1104G>A n.3020G>A c.3007G>A (p.Glu1003Lys) c.299G>A c.148G>A (p.Glu50Lys) c.150G>A n.3051G>A c.2878G>A (p.Glu960Lys) c.2368G>A (p.Glu790Lys) c.808G>A (p.Glu270Lys) c.799G>A (p.Glu267Lys) n.3037G>A | |
| 2 | g.15402233A= | CA2490879609 | NBAS | c.1103T= n.3019T= c.3006T= (p.Cys1002=) c.298T= c.147T= (p.Cys49=) c.149T= n.3050T= c.2877T= (p.Cys959=) c.2367T= (p.Cys789=) c.807T= (p.Cys269=) c.798T= (p.Cys266=) n.3036T= | |
| 2 | g.15402233A>C | CA345882065 | NBAS | c.1103T>G n.3019T>G c.3006T>G (p.Cys1002Trp) c.298T>G c.147T>G (p.Cys49Trp) c.149T>G n.3050T>G c.2877T>G (p.Cys959Trp) c.2367T>G (p.Cys789Trp) c.807T>G (p.Cys269Trp) c.798T>G (p.Cys266Trp) n.3036T>G | |
| 2 | g.15402233A>G | CA1536195 | NBAS | c.1103T>C n.3019T>C c.3006T>C (p.Cys1002=) c.298T>C c.147T>C (p.Cys49=) c.149T>C n.3050T>C c.2877T>C (p.Cys959=) c.2367T>C (p.Cys789=) c.807T>C (p.Cys269=) c.798T>C (p.Cys266=) n.3036T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402233A>T | CA345882068 | NBAS | c.1103T>A n.3019T>A c.3006T>A (p.Cys1002Ter) c.298T>A c.147T>A (p.Cys49Ter) c.149T>A n.3050T>A c.2877T>A (p.Cys959Ter) c.2367T>A (p.Cys789Ter) c.807T>A (p.Cys269Ter) c.798T>A (p.Cys266Ter) n.3036T>A | |
| 2 | g.15402234C>A | CA345882070 | NBAS | c.1102G>T n.3018G>T c.3005G>T (p.Cys1002Phe) c.297G>T c.146G>T (p.Cys49Phe) c.148G>T n.3049G>T c.2876G>T (p.Cys959Phe) c.2366G>T (p.Cys789Phe) c.806G>T (p.Cys269Phe) c.797G>T (p.Cys266Phe) n.3035G>T | |
| 2 | g.15402234C>G | CA345882072 | NBAS | c.1102G>C n.3018G>C c.3005G>C (p.Cys1002Ser) c.297G>C c.146G>C (p.Cys49Ser) c.148G>C n.3049G>C c.2876G>C (p.Cys959Ser) c.2366G>C (p.Cys789Ser) c.806G>C (p.Cys269Ser) c.797G>C (p.Cys266Ser) n.3035G>C | |
| 2 | g.15402234C>T | CA345882077 | NBAS | c.1102G>A n.3018G>A c.3005G>A (p.Cys1002Tyr) c.297G>A c.146G>A (p.Cys49Tyr) c.148G>A n.3049G>A c.2876G>A (p.Cys959Tyr) c.2366G>A (p.Cys789Tyr) c.806G>A (p.Cys269Tyr) c.797G>A (p.Cys266Tyr) n.3035G>A | gnomAD v4 |
| 2 | g.15402235A>C | CA345882082 | NBAS | c.1101T>G n.3017T>G c.3004T>G (p.Cys1002Gly) c.296T>G c.145T>G (p.Cys49Gly) c.147T>G n.3048T>G c.2875T>G (p.Cys959Gly) c.2365T>G (p.Cys789Gly) c.805T>G (p.Cys269Gly) c.796T>G (p.Cys266Gly) n.3034T>G | |
| 2 | g.15402235A>G | CA345882079 | NBAS | c.1101T>C n.3017T>C c.3004T>C (p.Cys1002Arg) c.296T>C c.145T>C (p.Cys49Arg) c.147T>C n.3048T>C c.2875T>C (p.Cys959Arg) c.2365T>C (p.Cys789Arg) c.805T>C (p.Cys269Arg) c.796T>C (p.Cys266Arg) n.3034T>C | |
| 2 | g.15402235A>T | CA345882080 | NBAS | c.1101T>A n.3017T>A c.3004T>A (p.Cys1002Ser) c.296T>A c.145T>A (p.Cys49Ser) c.147T>A n.3048T>A c.2875T>A (p.Cys959Ser) c.2365T>A (p.Cys789Ser) c.805T>A (p.Cys269Ser) c.796T>A (p.Cys266Ser) n.3034T>A | |
| 2 | g.15402236G>A | CA424868955 | NBAS | c.1100C>T n.3016C>T c.3003C>T (p.Thr1001=) c.295C>T c.144C>T (p.Thr48=) c.146C>T n.3047C>T c.2874C>T (p.Thr958=) c.2364C>T (p.Thr788=) c.804C>T (p.Thr268=) c.795C>T (p.Thr265=) n.3033C>T | |
| 2 | g.15402236G>C | CA424868956 | NBAS | c.1100C>G n.3016C>G c.3003C>G (p.Thr1001=) c.295C>G c.144C>G (p.Thr48=) c.146C>G n.3047C>G c.2874C>G (p.Thr958=) c.2364C>G (p.Thr788=) c.804C>G (p.Thr268=) c.795C>G (p.Thr265=) n.3033C>G | |
| 2 | g.15402236G>T | CA424868957 | NBAS | c.1100C>A n.3016C>A c.3003C>A (p.Thr1001=) c.295C>A c.144C>A (p.Thr48=) c.146C>A n.3047C>A c.2874C>A (p.Thr958=) c.2364C>A (p.Thr788=) c.804C>A (p.Thr268=) c.795C>A (p.Thr265=) n.3033C>A | |
| 2 | g.15402237G>A | CA345882083 | NBAS | c.1099C>T n.3015C>T c.3002C>T (p.Thr1001Ile) c.294C>T c.143C>T (p.Thr48Ile) c.145C>T n.3046C>T c.2873C>T (p.Thr958Ile) c.2363C>T (p.Thr788Ile) c.803C>T (p.Thr268Ile) c.794C>T (p.Thr265Ile) n.3032C>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402237G>C | CA345882085 | NBAS | c.1099C>G n.3015C>G c.3002C>G (p.Thr1001Ser) c.294C>G c.143C>G (p.Thr48Ser) c.145C>G n.3046C>G c.2873C>G (p.Thr958Ser) c.2363C>G (p.Thr788Ser) c.803C>G (p.Thr268Ser) c.794C>G (p.Thr265Ser) n.3032C>G | |
| 2 | g.15402237G= | CA2490879610 | NBAS | c.1099C= n.3015C= c.3002C= (p.Thr1001=) c.294C= c.143C= (p.Thr48=) c.145C= n.3046C= c.2873C= (p.Thr958=) c.2363C= (p.Thr788=) c.803C= (p.Thr268=) c.794C= (p.Thr265=) n.3032C= | |
| 2 | g.15402237G>T | CA345882090 | NBAS | c.1099C>A n.3015C>A c.3002C>A (p.Thr1001Asn) c.294C>A c.143C>A (p.Thr48Asn) c.145C>A n.3046C>A c.2873C>A (p.Thr958Asn) c.2363C>A (p.Thr788Asn) c.803C>A (p.Thr268Asn) c.794C>A (p.Thr265Asn) n.3032C>A | |
| 2 | g.15402238T>A | CA345882093 | NBAS | c.1098A>T n.3014A>T c.3001A>T (p.Thr1001Ser) c.293A>T c.142A>T (p.Thr48Ser) c.144A>T n.3045A>T c.2872A>T (p.Thr958Ser) c.2362A>T (p.Thr788Ser) c.802A>T (p.Thr268Ser) c.793A>T (p.Thr265Ser) n.3031A>T | |
| 2 | g.15402238T>C | CA345882094 | NBAS | c.1098A>G n.3014A>G c.3001A>G (p.Thr1001Ala) c.293A>G c.142A>G (p.Thr48Ala) c.144A>G n.3045A>G c.2872A>G (p.Thr958Ala) c.2362A>G (p.Thr788Ala) c.802A>G (p.Thr268Ala) c.793A>G (p.Thr265Ala) n.3031A>G | gnomAD v4 |
| 2 | g.15402238T>G | CA345882095 | NBAS | c.1098A>C n.3014A>C c.3001A>C (p.Thr1001Pro) c.293A>C c.142A>C (p.Thr48Pro) c.144A>C n.3045A>C c.2872A>C (p.Thr958Pro) c.2362A>C (p.Thr788Pro) c.802A>C (p.Thr268Pro) c.793A>C (p.Thr265Pro) n.3031A>C | |
| 2 | g.15402239_15402249dup | CA531030362 | NBAS | c.1088_1098dup n.3004_3014dup c.2991_3001dup (p.Thr1001SerfsTer19) c.283_293dup c.132_142dup (p.Thr48SerfsTer19) c.134_144dup n.3035_3045dup c.2862_2872dup (p.Thr958SerfsTer19) c.2352_2362dup (p.Thr788SerfsTer19) c.792_802dup (p.Thr268SerfsTer19) c.783_793dup (p.Thr265SerfsTer19) n.3021_3031dup | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402239A>C | CA345882098 | NBAS | c.1097T>G n.3013T>G c.3000T>G (p.Tyr1000Ter) c.292T>G c.141T>G (p.Tyr47Ter) c.143T>G n.3044T>G c.2871T>G (p.Tyr957Ter) c.2361T>G (p.Tyr787Ter) c.801T>G (p.Tyr267Ter) c.792T>G (p.Tyr264Ter) n.3030T>G | |
| 2 | g.15402239A>G | CA424868958 | NBAS | c.1097T>C n.3013T>C c.3000T>C (p.Tyr1000=) c.292T>C c.141T>C (p.Tyr47=) c.143T>C n.3044T>C c.2871T>C (p.Tyr957=) c.2361T>C (p.Tyr787=) c.801T>C (p.Tyr267=) c.792T>C (p.Tyr264=) n.3030T>C | gnomAD v4 |
| 2 | g.15402239A>T | CA345882100 | NBAS | c.1097T>A n.3013T>A c.3000T>A (p.Tyr1000Ter) c.292T>A c.141T>A (p.Tyr47Ter) c.143T>A n.3044T>A c.2871T>A (p.Tyr957Ter) c.2361T>A (p.Tyr787Ter) c.801T>A (p.Tyr267Ter) c.792T>A (p.Tyr264Ter) n.3030T>A | |
| 2 | g.15402240T>A | CA345882104 | NBAS | c.1096A>T n.3012A>T c.2999A>T (p.Tyr1000Phe) c.291A>T c.140A>T (p.Tyr47Phe) c.142A>T n.3043A>T c.2870A>T (p.Tyr957Phe) c.2360A>T (p.Tyr787Phe) c.800A>T (p.Tyr267Phe) c.791A>T (p.Tyr264Phe) n.3029A>T | |
| 2 | g.15402240T>C | CA1536196 | NBAS | c.1096A>G n.3012A>G c.2999A>G (p.Tyr1000Cys) c.291A>G c.140A>G (p.Tyr47Cys) c.142A>G n.3043A>G c.2870A>G (p.Tyr957Cys) c.2360A>G (p.Tyr787Cys) c.800A>G (p.Tyr267Cys) c.791A>G (p.Tyr264Cys) n.3029A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402240T>G | CA345882111 | NBAS | c.1096A>C n.3012A>C c.2999A>C (p.Tyr1000Ser) c.291A>C c.140A>C (p.Tyr47Ser) c.142A>C n.3043A>C c.2870A>C (p.Tyr957Ser) c.2360A>C (p.Tyr787Ser) c.800A>C (p.Tyr267Ser) c.791A>C (p.Tyr264Ser) n.3029A>C | |
| 2 | g.15402240T= | CA2490879611 | NBAS | c.1096A= n.3012A= c.2999A= (p.Tyr1000=) c.291A= c.140A= (p.Tyr47=) c.142A= n.3043A= c.2870A= (p.Tyr957=) c.2360A= (p.Tyr787=) c.800A= (p.Tyr267=) c.791A= (p.Tyr264=) n.3029A= | |
| 2 | g.15402241A= | CA2490879612 | NBAS | c.1095T= n.3011T= c.2998T= (p.Tyr1000=) c.290T= c.139T= (p.Tyr47=) c.141T= n.3042T= c.2869T= (p.Tyr957=) c.2359T= (p.Tyr787=) c.799T= (p.Tyr267=) c.790T= (p.Tyr264=) n.3028T= | |
| 2 | g.15402241A>C | CA345882126 | NBAS | c.1095T>G n.3011T>G c.2998T>G (p.Tyr1000Asp) c.290T>G c.139T>G (p.Tyr47Asp) c.141T>G n.3042T>G c.2869T>G (p.Tyr957Asp) c.2359T>G (p.Tyr787Asp) c.799T>G (p.Tyr267Asp) c.790T>G (p.Tyr264Asp) n.3028T>G | |
| 2 | g.15402241A>G | CA345882123 | NBAS | c.1095T>C n.3011T>C c.2998T>C (p.Tyr1000His) c.290T>C c.139T>C (p.Tyr47His) c.141T>C n.3042T>C c.2869T>C (p.Tyr957His) c.2359T>C (p.Tyr787His) c.799T>C (p.Tyr267His) c.790T>C (p.Tyr264His) n.3028T>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402241A>T | CA345882113 | NBAS | c.1095T>A n.3011T>A c.2998T>A (p.Tyr1000Asn) c.290T>A c.139T>A (p.Tyr47Asn) c.141T>A n.3042T>A c.2869T>A (p.Tyr957Asn) c.2359T>A (p.Tyr787Asn) c.799T>A (p.Tyr267Asn) c.790T>A (p.Tyr264Asn) n.3028T>A | |
| 2 | g.15402242G>A | CA424868959 | NBAS | c.1094C>T n.3010C>T c.2997C>T (p.Ile999=) c.289C>T c.138C>T (p.Ile46=) c.140C>T n.3041C>T c.2868C>T (p.Ile956=) c.2358C>T (p.Ile786=) c.798C>T (p.Ile266=) c.789C>T (p.Ile263=) n.3027C>T | |
| 2 | g.15402242G>C | CA1536198 | NBAS | c.1094C>G n.3010C>G c.2997C>G (p.Ile999Met) c.289C>G c.138C>G (p.Ile46Met) c.140C>G n.3041C>G c.2868C>G (p.Ile956Met) c.2358C>G (p.Ile786Met) c.798C>G (p.Ile266Met) c.789C>G (p.Ile263Met) n.3027C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402242G= | CA2490879613 | NBAS | c.1094C= n.3010C= c.2997C= (p.Ile999=) c.289C= c.138C= (p.Ile46=) c.140C= n.3041C= c.2868C= (p.Ile956=) c.2358C= (p.Ile786=) c.798C= (p.Ile266=) c.789C= (p.Ile263=) n.3027C= | |
| 2 | g.15402242G>T | CA424868960 | NBAS | c.1094C>A n.3010C>A c.2997C>A (p.Ile999=) c.289C>A c.138C>A (p.Ile46=) c.140C>A n.3041C>A c.2868C>A (p.Ile956=) c.2358C>A (p.Ile786=) c.798C>A (p.Ile266=) c.789C>A (p.Ile263=) n.3027C>A | ClinVar dbSNP |
| 2 | g.15402242_15402244delinsGAT | CA2490879614 | NBAS | c.1092_1094delinsATC n.3008_3010delinsATC c.2995_2997delinsATC (p.Ile999=) c.287_289delinsATC c.136_138delinsATC (p.Ile46=) c.138_140delinsATC n.3039_3041delinsATC c.2866_2868delinsATC (p.Ile956=) c.2356_2358delinsATC (p.Ile786=) c.796_798delinsATC (p.Ile266=) c.787_789delinsATC (p.Ile263=) n.3025_3027delinsATC | |
| 2 | g.15402243A>C | CA345882131 | NBAS | c.1093T>G n.3009T>G c.2996T>G (p.Ile999Ser) c.288T>G c.137T>G (p.Ile46Ser) c.139T>G n.3040T>G c.2867T>G (p.Ile956Ser) c.2357T>G (p.Ile786Ser) c.797T>G (p.Ile266Ser) c.788T>G (p.Ile263Ser) n.3026T>G | |
| 2 | g.15402243A>G | CA345882133 | NBAS | c.1093T>C n.3009T>C c.2996T>C (p.Ile999Thr) c.288T>C c.137T>C (p.Ile46Thr) c.139T>C n.3040T>C c.2867T>C (p.Ile956Thr) c.2357T>C (p.Ile786Thr) c.797T>C (p.Ile266Thr) c.788T>C (p.Ile263Thr) n.3026T>C | |
| 2 | g.15402243A>T | CA345882134 | NBAS | c.1093T>A n.3009T>A c.2996T>A (p.Ile999Asn) c.288T>A c.137T>A (p.Ile46Asn) c.139T>A n.3040T>A c.2867T>A (p.Ile956Asn) c.2357T>A (p.Ile786Asn) c.797T>A (p.Ile266Asn) c.788T>A (p.Ile263Asn) n.3026T>A | |
| 2 | g.15402243_15402244del | CA1536197 | NBAS | c.1092_1093del n.3008_3009del c.2995_2996del (p.Ile999LeufsTer4) c.287_288del c.136_137del (p.Ile46LeufsTer4) c.138_139del n.3039_3040del c.2866_2867del (p.Ile956LeufsTer4) c.2356_2357del (p.Ile786LeufsTer4) c.796_797del (p.Ile266LeufsTer4) c.787_788del (p.Ile263LeufsTer4) n.3025_3026del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402244T>A | CA345882136 | NBAS | c.1092A>T n.3008A>T c.2995A>T (p.Ile999Phe) c.287A>T c.136A>T (p.Ile46Phe) c.138A>T n.3039A>T c.2866A>T (p.Ile956Phe) c.2356A>T (p.Ile786Phe) c.796A>T (p.Ile266Phe) c.787A>T (p.Ile263Phe) n.3025A>T | |
| 2 | g.15402244T>C | CA345882137 | NBAS | c.1092A>G n.3008A>G c.2995A>G (p.Ile999Val) c.287A>G c.136A>G (p.Ile46Val) c.138A>G n.3039A>G c.2866A>G (p.Ile956Val) c.2356A>G (p.Ile786Val) c.796A>G (p.Ile266Val) c.787A>G (p.Ile263Val) n.3025A>G | |
| 2 | g.15402244T>G | CA345882138 | NBAS | c.1092A>C n.3008A>C c.2995A>C (p.Ile999Leu) c.287A>C c.136A>C (p.Ile46Leu) c.138A>C n.3039A>C c.2866A>C (p.Ile956Leu) c.2356A>C (p.Ile786Leu) c.796A>C (p.Ile266Leu) c.787A>C (p.Ile263Leu) n.3025A>C | COSMIC |
| 2 | g.15402245G>A | CA424868961 | NBAS | c.1091C>T n.3007C>T c.2994C>T (p.Cys998=) c.286C>T c.135C>T (p.Cys45=) c.137C>T n.3038C>T c.2865C>T (p.Cys955=) c.2355C>T (p.Cys785=) c.795C>T (p.Cys265=) c.786C>T (p.Cys262=) n.3024C>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15402245G>C | CA345882139 | NBAS | c.1091C>G n.3007C>G c.2994C>G (p.Cys998Trp) c.286C>G c.135C>G (p.Cys45Trp) c.137C>G n.3038C>G c.2865C>G (p.Cys955Trp) c.2355C>G (p.Cys785Trp) c.795C>G (p.Cys265Trp) c.786C>G (p.Cys262Trp) n.3024C>G | |
| 2 | g.15402245G= | CA2490879615 | NBAS | c.1091C= n.3007C= c.2994C= (p.Cys998=) c.286C= c.135C= (p.Cys45=) c.137C= n.3038C= c.2865C= (p.Cys955=) c.2355C= (p.Cys785=) c.795C= (p.Cys265=) c.786C= (p.Cys262=) n.3024C= | |
| 2 | g.15402245G>T | CA345882141 | NBAS | c.1091C>A n.3007C>A c.2994C>A (p.Cys998Ter) c.286C>A c.135C>A (p.Cys45Ter) c.137C>A n.3038C>A c.2865C>A (p.Cys955Ter) c.2355C>A (p.Cys785Ter) c.795C>A (p.Cys265Ter) c.786C>A (p.Cys262Ter) n.3024C>A | |
| 2 | g.15402246C>A | CA345882154 | NBAS | c.1090G>T n.3006G>T c.2993G>T (p.Cys998Phe) c.285G>T c.134G>T (p.Cys45Phe) c.136G>T n.3037G>T c.2864G>T (p.Cys955Phe) c.2354G>T (p.Cys785Phe) c.794G>T (p.Cys265Phe) c.785G>T (p.Cys262Phe) n.3023G>T | |
| 2 | g.15402246C= | CA2490879616 | NBAS | c.1090G= n.3006G= c.2993G= (p.Cys998=) c.285G= c.134G= (p.Cys45=) c.136G= n.3037G= c.2864G= (p.Cys955=) c.2354G= (p.Cys785=) c.794G= (p.Cys265=) c.785G= (p.Cys262=) n.3023G= | |
| 2 | g.15402246C>G | CA345882156 | NBAS | c.1090G>C n.3006G>C c.2993G>C (p.Cys998Ser) c.285G>C c.134G>C (p.Cys45Ser) c.136G>C n.3037G>C c.2864G>C (p.Cys955Ser) c.2354G>C (p.Cys785Ser) c.794G>C (p.Cys265Ser) c.785G>C (p.Cys262Ser) n.3023G>C | |
| 2 | g.15402246C>T | CA42621737 | NBAS | c.1090G>A n.3006G>A c.2993G>A (p.Cys998Tyr) c.285G>A c.134G>A (p.Cys45Tyr) c.136G>A n.3037G>A c.2864G>A (p.Cys955Tyr) c.2354G>A (p.Cys785Tyr) c.794G>A (p.Cys265Tyr) c.785G>A (p.Cys262Tyr) n.3023G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15402247_15402250del | CA2657911718 | NBAS | c.1087_1090del n.3003_3006del c.2990_2993del (p.Glu997AlafsTer18) c.282_285del c.131_134del (p.Glu44AlafsTer18) c.133_136del n.3034_3037del c.2861_2864del (p.Glu954AlafsTer18) c.2351_2354del (p.Glu784AlafsTer18) c.791_794del (p.Glu264AlafsTer18) c.782_785del (p.Glu261AlafsTer18) n.3020_3023del | gnomAD v4 |
| 2 | g.15402247A= | CA2490879617 | NBAS | c.1089T= n.3005T= c.2992T= (p.Cys998=) c.284T= c.133T= (p.Cys45=) c.135T= n.3036T= c.2863T= (p.Cys955=) c.2353T= (p.Cys785=) c.793T= (p.Cys265=) c.784T= (p.Cys262=) n.3022T= | |
| 2 | g.15402247A>C | CA345882164 | NBAS | c.1089T>G n.3005T>G c.2992T>G (p.Cys998Gly) c.284T>G c.133T>G (p.Cys45Gly) c.135T>G n.3036T>G c.2863T>G (p.Cys955Gly) c.2353T>G (p.Cys785Gly) c.793T>G (p.Cys265Gly) c.784T>G (p.Cys262Gly) n.3022T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402247A>G | CA345882158 | NBAS | c.1089T>C n.3005T>C c.2992T>C (p.Cys998Arg) c.284T>C c.133T>C (p.Cys45Arg) c.135T>C n.3036T>C c.2863T>C (p.Cys955Arg) c.2353T>C (p.Cys785Arg) c.793T>C (p.Cys265Arg) c.784T>C (p.Cys262Arg) n.3022T>C | |
| 2 | g.15402247A>T | CA345882161 | NBAS | c.1089T>A n.3005T>A c.2992T>A (p.Cys998Ser) c.284T>A c.133T>A (p.Cys45Ser) c.135T>A n.3036T>A c.2863T>A (p.Cys955Ser) c.2353T>A (p.Cys785Ser) c.793T>A (p.Cys265Ser) c.784T>A (p.Cys262Ser) n.3022T>A | |
| 2 | g.15402248C>A | CA345882167 | NBAS | c.1088G>T n.3004G>T c.2991G>T (p.Glu997Asp) c.283G>T c.132G>T (p.Glu44Asp) c.134G>T n.3035G>T c.2862G>T (p.Glu954Asp) c.2352G>T (p.Glu784Asp) c.792G>T (p.Glu264Asp) c.783G>T (p.Glu261Asp) n.3021G>T | |
| 2 | g.15402248C= | CA2490879618 | NBAS | c.1088G= n.3004G= c.2991G= (p.Glu997=) c.283G= c.132G= (p.Glu44=) c.134G= n.3035G= c.2862G= (p.Glu954=) c.2352G= (p.Glu784=) c.792G= (p.Glu264=) c.783G= (p.Glu261=) n.3021G= | |
| 2 | g.15402248C>G | CA345882168 | NBAS | c.1088G>C n.3004G>C c.2991G>C (p.Glu997Asp) c.283G>C c.132G>C (p.Glu44Asp) c.134G>C n.3035G>C c.2862G>C (p.Glu954Asp) c.2352G>C (p.Glu784Asp) c.792G>C (p.Glu264Asp) c.783G>C (p.Glu261Asp) n.3021G>C | |
| 2 | g.15402248C>T | CA424868962 | NBAS | c.1088G>A n.3004G>A c.2991G>A (p.Glu997=) c.283G>A c.132G>A (p.Glu44=) c.134G>A n.3035G>A c.2862G>A (p.Glu954=) c.2352G>A (p.Glu784=) c.792G>A (p.Glu264=) c.783G>A (p.Glu261=) n.3021G>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402249T>A | CA345882172 | NBAS | c.1087A>T n.3003A>T c.2990A>T (p.Glu997Val) c.282A>T c.131A>T (p.Glu44Val) c.133A>T n.3034A>T c.2861A>T (p.Glu954Val) c.2351A>T (p.Glu784Val) c.791A>T (p.Glu264Val) c.782A>T (p.Glu261Val) n.3020A>T | gnomAD v4 |
| 2 | g.15402249T>C | CA345882178 | NBAS | c.1087A>G n.3003A>G c.2990A>G (p.Glu997Gly) c.282A>G c.131A>G (p.Glu44Gly) c.133A>G n.3034A>G c.2861A>G (p.Glu954Gly) c.2351A>G (p.Glu784Gly) c.791A>G (p.Glu264Gly) c.782A>G (p.Glu261Gly) n.3020A>G | |
| 2 | g.15402249T>G | CA1536199 | NBAS | c.1087A>C n.3003A>C c.2990A>C (p.Glu997Ala) c.282A>C c.131A>C (p.Glu44Ala) c.133A>C n.3034A>C c.2861A>C (p.Glu954Ala) c.2351A>C (p.Glu784Ala) c.791A>C (p.Glu264Ala) c.782A>C (p.Glu261Ala) n.3020A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402249T= | CA2490879619 | NBAS | c.1087A= n.3003A= c.2990A= (p.Glu997=) c.282A= c.131A= (p.Glu44=) c.133A= n.3034A= c.2861A= (p.Glu954=) c.2351A= (p.Glu784=) c.791A= (p.Glu264=) c.782A= (p.Glu261=) n.3020A= | |
| 2 | g.15402250C>A | CA345882182 | NBAS | c.1086G>T n.3002G>T c.2989G>T (p.Glu997Ter) c.281G>T c.130G>T (p.Glu44Ter) c.132G>T n.3033G>T c.2860G>T (p.Glu954Ter) c.2350G>T (p.Glu784Ter) c.790G>T (p.Glu264Ter) c.781G>T (p.Glu261Ter) n.3019G>T | |
| 2 | g.15402250C= | CA2490879620 | NBAS | c.1086G= n.3002G= c.2989G= (p.Glu997=) c.281G= c.130G= (p.Glu44=) c.132G= n.3033G= c.2860G= (p.Glu954=) c.2350G= (p.Glu784=) c.790G= (p.Glu264=) c.781G= (p.Glu261=) n.3019G= | |
| 2 | g.15402250C>G | CA1536200 | NBAS | c.1086G>C n.3002G>C c.2989G>C (p.Glu997Gln) c.281G>C c.130G>C (p.Glu44Gln) c.132G>C n.3033G>C c.2860G>C (p.Glu954Gln) c.2350G>C (p.Glu784Gln) c.790G>C (p.Glu264Gln) c.781G>C (p.Glu261Gln) n.3019G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15402250C>T | CA345882188 | NBAS | c.1086G>A n.3002G>A c.2989G>A (p.Glu997Lys) c.281G>A c.130G>A (p.Glu44Lys) c.132G>A n.3033G>A c.2860G>A (p.Glu954Lys) c.2350G>A (p.Glu784Lys) c.790G>A (p.Glu264Lys) c.781G>A (p.Glu261Lys) n.3019G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.15402251T>A | CA424868963 | NBAS | c.1085A>T n.3001A>T c.2988A>T (p.Leu996=) c.280A>T c.129A>T (p.Leu43=) c.131A>T n.3032A>T c.2859A>T (p.Leu953=) c.2349A>T (p.Leu783=) c.789A>T (p.Leu263=) c.780A>T (p.Leu260=) n.3018A>T | |
| 2 | g.15402251T>C | CA1536201 | NBAS | c.1085A>G n.3001A>G c.2988A>G (p.Leu996=) c.280A>G c.129A>G (p.Leu43=) c.131A>G n.3032A>G c.2859A>G (p.Leu953=) c.2349A>G (p.Leu783=) c.789A>G (p.Leu263=) c.780A>G (p.Leu260=) n.3018A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15402251T>G | CA424868964 | NBAS | c.1085A>C n.3001A>C c.2988A>C (p.Leu996=) c.280A>C c.129A>C (p.Leu43=) c.131A>C n.3032A>C c.2859A>C (p.Leu953=) c.2349A>C (p.Leu783=) c.789A>C (p.Leu263=) c.780A>C (p.Leu260=) n.3018A>C | |
| 2 | g.15402251T= | CA2490879621 | NBAS | c.1085A= n.3001A= c.2988A= (p.Leu996=) c.280A= c.129A= (p.Leu43=) c.131A= n.3032A= c.2859A= (p.Leu953=) c.2349A= (p.Leu783=) c.789A= (p.Leu263=) c.780A= (p.Leu260=) n.3018A= | |
| 2 | g.15402252A>C | CA345882189 | NBAS | c.1084T>G n.3000T>G c.2987T>G (p.Leu996Arg) c.279T>G c.128T>G (p.Leu43Arg) c.130T>G n.3031T>G c.2858T>G (p.Leu953Arg) c.2348T>G (p.Leu783Arg) c.788T>G (p.Leu263Arg) c.779T>G (p.Leu260Arg) n.3017T>G | |
| 2 | g.15402252A>G | CA345882190 | NBAS | c.1084T>C n.3000T>C c.2987T>C (p.Leu996Pro) c.279T>C c.128T>C (p.Leu43Pro) c.130T>C n.3031T>C c.2858T>C (p.Leu953Pro) c.2348T>C (p.Leu783Pro) c.788T>C (p.Leu263Pro) c.779T>C (p.Leu260Pro) n.3017T>C | |
| 2 | g.15402252A>T | CA345882191 | NBAS | c.1084T>A n.3000T>A c.2987T>A (p.Leu996Gln) c.279T>A c.128T>A (p.Leu43Gln) c.130T>A n.3031T>A c.2858T>A (p.Leu953Gln) c.2348T>A (p.Leu783Gln) c.788T>A (p.Leu263Gln) c.779T>A (p.Leu260Gln) n.3017T>A | |
| 2 | g.15402253G>A | CA424868965 | NBAS | c.1083C>T n.2999C>T c.2986C>T (p.Leu996=) c.278C>T c.127C>T (p.Leu43=) c.129C>T n.3030C>T c.2857C>T (p.Leu953=) c.2347C>T (p.Leu783=) c.787C>T (p.Leu263=) c.778C>T (p.Leu260=) n.3016C>T | dbSNP |
| 2 | g.15402253G>C | CA345882193 | NBAS | c.1083C>G n.2999C>G c.2986C>G (p.Leu996Val) c.278C>G c.127C>G (p.Leu43Val) c.129C>G n.3030C>G c.2857C>G (p.Leu953Val) c.2347C>G (p.Leu783Val) c.787C>G (p.Leu263Val) c.778C>G (p.Leu260Val) n.3016C>G | |
| 2 | g.15402253G= | CA2490879622 | NBAS | c.1083C= n.2999C= c.2986C= (p.Leu996=) c.278C= c.127C= (p.Leu43=) c.129C= n.3030C= c.2857C= (p.Leu953=) c.2347C= (p.Leu783=) c.787C= (p.Leu263=) c.778C= (p.Leu260=) n.3016C= | |
| 2 | g.15402253G>T | CA345882199 | NBAS | c.1083C>A n.2999C>A c.2986C>A (p.Leu996Ile) c.278C>A c.127C>A (p.Leu43Ile) c.129C>A n.3030C>A c.2857C>A (p.Leu953Ile) c.2347C>A (p.Leu783Ile) c.787C>A (p.Leu263Ile) c.778C>A (p.Leu260Ile) n.3016C>A | gnomAD v4 |
| 2 | g.15402254T>A | CA424868966 | NBAS | c.1082A>T n.2998A>T c.2985A>T (p.Ala995=) c.277A>T c.126A>T (p.Ala42=) c.128A>T n.3029A>T c.2856A>T (p.Ala952=) c.2346A>T (p.Ala782=) c.786A>T (p.Ala262=) c.777A>T (p.Ala259=) n.3015A>T | |
| 2 | g.15402254T>C | CA424868967 | NBAS | c.1082A>G n.2998A>G c.2985A>G (p.Ala995=) c.277A>G c.126A>G (p.Ala42=) c.128A>G n.3029A>G c.2856A>G (p.Ala952=) c.2346A>G (p.Ala782=) c.786A>G (p.Ala262=) c.777A>G (p.Ala259=) n.3015A>G | |
| 2 | g.15402254T>G | CA424868968 | NBAS | c.1082A>C n.2998A>C c.2985A>C (p.Ala995=) c.277A>C c.126A>C (p.Ala42=) c.128A>C n.3029A>C c.2856A>C (p.Ala952=) c.2346A>C (p.Ala782=) c.786A>C (p.Ala262=) c.777A>C (p.Ala259=) n.3015A>C | |
| 2 | g.15402255G>A | CA345882202 | NBAS | c.1081C>T n.2997C>T c.2984C>T (p.Ala995Val) c.276C>T c.125C>T (p.Ala42Val) c.127C>T n.3028C>T c.2855C>T (p.Ala952Val) c.2345C>T (p.Ala782Val) c.785C>T (p.Ala262Val) c.776C>T (p.Ala259Val) n.3014C>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15402255G>C | CA345882204 | NBAS | c.1081C>G n.2997C>G c.2984C>G (p.Ala995Gly) c.276C>G c.125C>G (p.Ala42Gly) c.127C>G n.3028C>G c.2855C>G (p.Ala952Gly) c.2345C>G (p.Ala782Gly) c.785C>G (p.Ala262Gly) c.776C>G (p.Ala259Gly) n.3014C>G | |
| 2 | g.15402255G= | CA2490879623 | NBAS | c.1081C= n.2997C= c.2984C= (p.Ala995=) c.276C= c.125C= (p.Ala42=) c.127C= n.3028C= c.2855C= (p.Ala952=) c.2345C= (p.Ala782=) c.785C= (p.Ala262=) c.776C= (p.Ala259=) n.3014C= | |
| 2 | g.15402255G>T | CA345882203 | NBAS | c.1081C>A n.2997C>A c.2984C>A (p.Ala995Glu) c.276C>A c.125C>A (p.Ala42Glu) c.127C>A n.3028C>A c.2855C>A (p.Ala952Glu) c.2345C>A (p.Ala782Glu) c.785C>A (p.Ala262Glu) c.776C>A (p.Ala259Glu) n.3014C>A |