| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.15424368C>A | CA345889621 | NBAS | c.621G>T n.2537G>T c.2041G>T (p.Val681Phe) c.2524G>T (p.Val842Phe) c.25G>T (p.Val9Phe) c.27G>T n.2568G>T c.2395G>T (p.Val799Phe) c.1885G>T (p.Val629Phe) c.325G>T (p.Val109Phe) c.316G>T (p.Val106Phe) n.2554G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424368C= | CA2490889321 | NBAS | c.621G= n.2537G= c.2041G= (p.Val681=) c.2524G= (p.Val842=) c.25G= (p.Val9=) c.27G= n.2568G= c.2395G= (p.Val799=) c.1885G= (p.Val629=) c.325G= (p.Val109=) c.316G= (p.Val106=) n.2554G= | |
| 2 | g.15424368C>G | CA345889624 | NBAS | c.621G>C n.2537G>C c.2041G>C (p.Val681Leu) c.2524G>C (p.Val842Leu) c.25G>C (p.Val9Leu) c.27G>C n.2568G>C c.2395G>C (p.Val799Leu) c.1885G>C (p.Val629Leu) c.325G>C (p.Val109Leu) c.316G>C (p.Val106Leu) n.2554G>C | |
| 2 | g.15424368C>T | CA345889627 | NBAS | c.621G>A n.2537G>A c.2041G>A (p.Val681Ile) c.2524G>A (p.Val842Ile) c.25G>A (p.Val9Ile) c.27G>A n.2568G>A c.2395G>A (p.Val799Ile) c.1885G>A (p.Val629Ile) c.325G>A (p.Val109Ile) c.316G>A (p.Val106Ile) n.2554G>A | gnomAD v4 |
| 2 | g.15424369C>A | CA345889628 | NBAS | c.620G>T n.2536G>T c.2040G>T (p.Lys680Asn) c.2523G>T (p.Lys841Asn) c.24G>T (p.Lys8Asn) c.26G>T n.2567G>T c.2394G>T (p.Lys798Asn) c.1884G>T (p.Lys628Asn) c.324G>T (p.Lys108Asn) c.315G>T (p.Lys105Asn) n.2553G>T | |
| 2 | g.15424369C>G | CA345889629 | NBAS | c.620G>C n.2536G>C c.2040G>C (p.Lys680Asn) c.2523G>C (p.Lys841Asn) c.24G>C (p.Lys8Asn) c.26G>C n.2567G>C c.2394G>C (p.Lys798Asn) c.1884G>C (p.Lys628Asn) c.324G>C (p.Lys108Asn) c.315G>C (p.Lys105Asn) n.2553G>C | |
| 2 | g.15424369C>T | CA424870493 | NBAS | c.620G>A n.2536G>A c.2040G>A (p.Lys680=) c.2523G>A (p.Lys841=) c.24G>A (p.Lys8=) c.26G>A n.2567G>A c.2394G>A (p.Lys798=) c.1884G>A (p.Lys628=) c.324G>A (p.Lys108=) c.315G>A (p.Lys105=) n.2553G>A | gnomAD v4 |
| 2 | g.15424370T>A | CA345889633 | NBAS | c.619A>T n.2535A>T c.2039A>T (p.Lys680Met) c.2522A>T (p.Lys841Met) c.23A>T (p.Lys8Met) c.25A>T n.2566A>T c.2393A>T (p.Lys798Met) c.1883A>T (p.Lys628Met) c.323A>T (p.Lys108Met) c.314A>T (p.Lys105Met) n.2552A>T | |
| 2 | g.15424370T>C | CA345889646 | NBAS | c.619A>G n.2535A>G c.2039A>G (p.Lys680Arg) c.2522A>G (p.Lys841Arg) c.23A>G (p.Lys8Arg) c.25A>G n.2566A>G c.2393A>G (p.Lys798Arg) c.1883A>G (p.Lys628Arg) c.323A>G (p.Lys108Arg) c.314A>G (p.Lys105Arg) n.2552A>G | |
| 2 | g.15424370T>G | CA345889631 | NBAS | c.619A>C n.2535A>C c.2039A>C (p.Lys680Thr) c.2522A>C (p.Lys841Thr) c.23A>C (p.Lys8Thr) c.25A>C n.2566A>C c.2393A>C (p.Lys798Thr) c.1883A>C (p.Lys628Thr) c.323A>C (p.Lys108Thr) c.314A>C (p.Lys105Thr) n.2552A>C | |
| 2 | g.15424371T>A | CA345889664 | NBAS | c.618A>T n.2534A>T c.2038A>T (p.Lys680Ter) c.2521A>T (p.Lys841Ter) c.22A>T (p.Lys8Ter) c.24A>T n.2565A>T c.2392A>T (p.Lys798Ter) c.1882A>T (p.Lys628Ter) c.322A>T (p.Lys108Ter) c.313A>T (p.Lys105Ter) n.2551A>T | |
| 2 | g.15424371T>C | CA345889673 | NBAS | c.618A>G n.2534A>G c.2038A>G (p.Lys680Glu) c.2521A>G (p.Lys841Glu) c.22A>G (p.Lys8Glu) c.24A>G n.2565A>G c.2392A>G (p.Lys798Glu) c.1882A>G (p.Lys628Glu) c.322A>G (p.Lys108Glu) c.313A>G (p.Lys105Glu) n.2551A>G | |
| 2 | g.15424371T>G | CA345889681 | NBAS | c.618A>C n.2534A>C c.2038A>C (p.Lys680Gln) c.2521A>C (p.Lys841Gln) c.22A>C (p.Lys8Gln) c.24A>C n.2565A>C c.2392A>C (p.Lys798Gln) c.1882A>C (p.Lys628Gln) c.322A>C (p.Lys108Gln) c.313A>C (p.Lys105Gln) n.2551A>C | |
| 2 | g.15424372C>A | CA345889686 | NBAS | c.617G>T n.2533G>T c.2037G>T (p.Glu679Asp) c.2520G>T (p.Glu840Asp) c.21G>T (p.Glu7Asp) c.23G>T n.2564G>T c.2391G>T (p.Glu797Asp) c.1881G>T (p.Glu627Asp) c.321G>T (p.Glu107Asp) c.312G>T (p.Glu104Asp) n.2550G>T | COSMIC |
| 2 | g.15424372C>G | CA345889698 | NBAS | c.617G>C n.2533G>C c.2037G>C (p.Glu679Asp) c.2520G>C (p.Glu840Asp) c.21G>C (p.Glu7Asp) c.23G>C n.2564G>C c.2391G>C (p.Glu797Asp) c.1881G>C (p.Glu627Asp) c.321G>C (p.Glu107Asp) c.312G>C (p.Glu104Asp) n.2550G>C | |
| 2 | g.15424372C>T | CA424870499 | NBAS | c.617G>A n.2533G>A c.2037G>A (p.Glu679=) c.2520G>A (p.Glu840=) c.21G>A (p.Glu7=) c.23G>A n.2564G>A c.2391G>A (p.Glu797=) c.1881G>A (p.Glu627=) c.321G>A (p.Glu107=) c.312G>A (p.Glu104=) n.2550G>A | |
| 2 | g.15424373T>A | CA345889746 | NBAS | c.616A>T n.2532A>T c.2036A>T (p.Glu679Val) c.2519A>T (p.Glu840Val) c.20A>T (p.Glu7Val) c.22A>T n.2563A>T c.2390A>T (p.Glu797Val) c.1880A>T (p.Glu627Val) c.320A>T (p.Glu107Val) c.311A>T (p.Glu104Val) n.2549A>T | |
| 2 | g.15424373T>C | CA345889741 | NBAS | c.616A>G n.2532A>G c.2036A>G (p.Glu679Gly) c.2519A>G (p.Glu840Gly) c.20A>G (p.Glu7Gly) c.22A>G n.2563A>G c.2390A>G (p.Glu797Gly) c.1880A>G (p.Glu627Gly) c.320A>G (p.Glu107Gly) c.311A>G (p.Glu104Gly) n.2549A>G | |
| 2 | g.15424373T>G | CA345889728 | NBAS | c.616A>C n.2532A>C c.2036A>C (p.Glu679Ala) c.2519A>C (p.Glu840Ala) c.20A>C (p.Glu7Ala) c.22A>C n.2563A>C c.2390A>C (p.Glu797Ala) c.1880A>C (p.Glu627Ala) c.320A>C (p.Glu107Ala) c.311A>C (p.Glu104Ala) n.2549A>C | |
| 2 | g.15424374C>A | CA345889751 | NBAS | c.615G>T n.2531G>T c.2035G>T (p.Glu679Ter) c.2518G>T (p.Glu840Ter) c.19G>T (p.Glu7Ter) c.21G>T n.2562G>T c.2389G>T (p.Glu797Ter) c.1879G>T (p.Glu627Ter) c.319G>T (p.Glu107Ter) c.310G>T (p.Glu104Ter) n.2548G>T | |
| 2 | g.15424374C>G | CA345889756 | NBAS | c.615G>C n.2531G>C c.2035G>C (p.Glu679Gln) c.2518G>C (p.Glu840Gln) c.19G>C (p.Glu7Gln) c.21G>C n.2562G>C c.2389G>C (p.Glu797Gln) c.1879G>C (p.Glu627Gln) c.319G>C (p.Glu107Gln) c.310G>C (p.Glu104Gln) n.2548G>C | |
| 2 | g.15424374C>T | CA345889761 | NBAS | c.615G>A n.2531G>A c.2035G>A (p.Glu679Lys) c.2518G>A (p.Glu840Lys) c.19G>A (p.Glu7Lys) c.21G>A n.2562G>A c.2389G>A (p.Glu797Lys) c.1879G>A (p.Glu627Lys) c.319G>A (p.Glu107Lys) c.310G>A (p.Glu104Lys) n.2548G>A | |
| 2 | g.15424375C>A | CA424870500 | NBAS | c.614G>T n.2530G>T c.2034G>T (p.Val678=) c.2517G>T (p.Val839=) c.18G>T (p.Val6=) c.20G>T n.2561G>T c.2388G>T (p.Val796=) c.1878G>T (p.Val626=) c.318G>T (p.Val106=) c.309G>T (p.Val103=) n.2547G>T | |
| 2 | g.15424375C>G | CA424870502 | NBAS | c.614G>C n.2530G>C c.2034G>C (p.Val678=) c.2517G>C (p.Val839=) c.18G>C (p.Val6=) c.20G>C n.2561G>C c.2388G>C (p.Val796=) c.1878G>C (p.Val626=) c.318G>C (p.Val106=) c.309G>C (p.Val103=) n.2547G>C | |
| 2 | g.15424375C>T | CA424870501 | NBAS | c.614G>A n.2530G>A c.2034G>A (p.Val678=) c.2517G>A (p.Val839=) c.18G>A (p.Val6=) c.20G>A n.2561G>A c.2388G>A (p.Val796=) c.1878G>A (p.Val626=) c.318G>A (p.Val106=) c.309G>A (p.Val103=) n.2547G>A | gnomAD v4 |
| 2 | g.15424376A>C | CA345889767 | NBAS | c.613T>G n.2529T>G c.2033T>G (p.Val678Gly) c.2516T>G (p.Val839Gly) c.17T>G (p.Val6Gly) c.19T>G n.2560T>G c.2387T>G (p.Val796Gly) c.1877T>G (p.Val626Gly) c.317T>G (p.Val106Gly) c.308T>G (p.Val103Gly) n.2546T>G | |
| 2 | g.15424376A>G | CA345889769 | NBAS | c.613T>C n.2529T>C c.2033T>C (p.Val678Ala) c.2516T>C (p.Val839Ala) c.17T>C (p.Val6Ala) c.19T>C n.2560T>C c.2387T>C (p.Val796Ala) c.1877T>C (p.Val626Ala) c.317T>C (p.Val106Ala) c.308T>C (p.Val103Ala) n.2546T>C | |
| 2 | g.15424376A>T | CA345889770 | NBAS | c.613T>A n.2529T>A c.2033T>A (p.Val678Glu) c.2516T>A (p.Val839Glu) c.17T>A (p.Val6Glu) c.19T>A n.2560T>A c.2387T>A (p.Val796Glu) c.1877T>A (p.Val626Glu) c.317T>A (p.Val106Glu) c.308T>A (p.Val103Glu) n.2546T>A | |
| 2 | g.15424377C>A | CA345889771 | NBAS | c.612G>T n.2528G>T c.2032G>T (p.Val678Leu) c.2515G>T (p.Val839Leu) c.16G>T (p.Val6Leu) c.18G>T n.2559G>T c.2386G>T (p.Val796Leu) c.1876G>T (p.Val626Leu) c.316G>T (p.Val106Leu) c.307G>T (p.Val103Leu) n.2545G>T | dbSNP |
| 2 | g.15424377C= | CA2490889322 | NBAS | c.612G= n.2528G= c.2032G= (p.Val678=) c.2515G= (p.Val839=) c.16G= (p.Val6=) c.18G= n.2559G= c.2386G= (p.Val796=) c.1876G= (p.Val626=) c.316G= (p.Val106=) c.307G= (p.Val103=) n.2545G= | |
| 2 | g.15424377C>G | CA345889773 | NBAS | c.612G>C n.2528G>C c.2032G>C (p.Val678Leu) c.2515G>C (p.Val839Leu) c.16G>C (p.Val6Leu) c.18G>C n.2559G>C c.2386G>C (p.Val796Leu) c.1876G>C (p.Val626Leu) c.316G>C (p.Val106Leu) c.307G>C (p.Val103Leu) n.2545G>C | |
| 2 | g.15424377C>T | CA345889772 | NBAS | c.612G>A n.2528G>A c.2032G>A (p.Val678Met) c.2515G>A (p.Val839Met) c.16G>A (p.Val6Met) c.18G>A n.2559G>A c.2386G>A (p.Val796Met) c.1876G>A (p.Val626Met) c.316G>A (p.Val106Met) c.307G>A (p.Val103Met) n.2545G>A | gnomAD v4 |
| 2 | g.15424378C>A | CA424870503 | NBAS | c.611G>T n.2527G>T c.2031G>T (p.Thr677=) c.2514G>T (p.Thr838=) c.15G>T (p.Thr5=) c.17G>T n.2558G>T c.2385G>T (p.Thr795=) c.1875G>T (p.Thr625=) c.315G>T (p.Thr105=) c.306G>T (p.Thr102=) n.2544G>T | gnomAD v4 |
| 2 | g.15424378C= | CA2490889323 | NBAS | c.611G= n.2527G= c.2031G= (p.Thr677=) c.2514G= (p.Thr838=) c.15G= (p.Thr5=) c.17G= n.2558G= c.2385G= (p.Thr795=) c.1875G= (p.Thr625=) c.315G= (p.Thr105=) c.306G= (p.Thr102=) n.2544G= | |
| 2 | g.15424378C>G | CA424870504 | NBAS | c.611G>C n.2527G>C c.2031G>C (p.Thr677=) c.2514G>C (p.Thr838=) c.15G>C (p.Thr5=) c.17G>C n.2558G>C c.2385G>C (p.Thr795=) c.1875G>C (p.Thr625=) c.315G>C (p.Thr105=) c.306G>C (p.Thr102=) n.2544G>C | COSMIC |
| 2 | g.15424378C>T | CA1536334 | NBAS | c.611G>A n.2527G>A c.2031G>A (p.Thr677=) c.2514G>A (p.Thr838=) c.15G>A (p.Thr5=) c.17G>A n.2558G>A c.2385G>A (p.Thr795=) c.1875G>A (p.Thr625=) c.315G>A (p.Thr105=) c.306G>A (p.Thr102=) n.2544G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.15424379G>A | CA1536335 | NBAS | c.610C>T n.2526C>T c.2030C>T (p.Thr677Met) c.2513C>T (p.Thr838Met) c.14C>T (p.Thr5Met) c.16C>T n.2557C>T c.2384C>T (p.Thr795Met) c.1874C>T (p.Thr625Met) c.314C>T (p.Thr105Met) c.305C>T (p.Thr102Met) n.2543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.15424379G>C | CA345889779 | NBAS | c.610C>G n.2526C>G c.2030C>G (p.Thr677Arg) c.2513C>G (p.Thr838Arg) c.14C>G (p.Thr5Arg) c.16C>G n.2557C>G c.2384C>G (p.Thr795Arg) c.1874C>G (p.Thr625Arg) c.314C>G (p.Thr105Arg) c.305C>G (p.Thr102Arg) n.2543C>G | |
| 2 | g.15424379G= | CA2490889324 | NBAS | c.610C= n.2526C= c.2030C= (p.Thr677=) c.2513C= (p.Thr838=) c.14C= (p.Thr5=) c.16C= n.2557C= c.2384C= (p.Thr795=) c.1874C= (p.Thr625=) c.314C= (p.Thr105=) c.305C= (p.Thr102=) n.2543C= | |
| 2 | g.15424379G>T | CA345889787 | NBAS | c.610C>A n.2526C>A c.2030C>A (p.Thr677Lys) c.2513C>A (p.Thr838Lys) c.14C>A (p.Thr5Lys) c.16C>A n.2557C>A c.2384C>A (p.Thr795Lys) c.1874C>A (p.Thr625Lys) c.314C>A (p.Thr105Lys) c.305C>A (p.Thr102Lys) n.2543C>A | gnomAD v4 |
| 2 | g.15424379_15424381dup | CA2657912165 | NBAS | c.608_610dup n.2524_2526dup c.2028_2030dup (p.Thr677_Val678insThr) c.2511_2513dup (p.Thr838_Val839insThr) c.12_14dup (p.Thr5_Val6insThr) c.14_16dup n.2555_2557dup c.2382_2384dup (p.Thr795_Val796insThr) c.1872_1874dup (p.Thr625_Val626insThr) c.312_314dup (p.Thr105_Val106insThr) c.303_305dup (p.Thr102_Val103insThr) n.2541_2543dup | gnomAD v4 |
| 2 | g.15424380T>A | CA345889798 | NBAS | c.609A>T n.2525A>T c.2029A>T (p.Thr677Ser) c.2512A>T (p.Thr838Ser) c.13A>T (p.Thr5Ser) c.15A>T n.2556A>T c.2383A>T (p.Thr795Ser) c.1873A>T (p.Thr625Ser) c.313A>T (p.Thr105Ser) c.304A>T (p.Thr102Ser) n.2542A>T | |
| 2 | g.15424380T>C | CA345889803 | NBAS | c.609A>G n.2525A>G c.2029A>G (p.Thr677Ala) c.2512A>G (p.Thr838Ala) c.13A>G (p.Thr5Ala) c.15A>G n.2556A>G c.2383A>G (p.Thr795Ala) c.1873A>G (p.Thr625Ala) c.313A>G (p.Thr105Ala) c.304A>G (p.Thr102Ala) n.2542A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15424380T>G | CA345889807 | NBAS | c.609A>C n.2525A>C c.2029A>C (p.Thr677Pro) c.2512A>C (p.Thr838Pro) c.13A>C (p.Thr5Pro) c.15A>C n.2556A>C c.2383A>C (p.Thr795Pro) c.1873A>C (p.Thr625Pro) c.313A>C (p.Thr105Pro) c.304A>C (p.Thr102Pro) n.2542A>C | |
| 2 | g.15424380T= | CA2490889325 | NBAS | c.609A= n.2525A= c.2029A= (p.Thr677=) c.2512A= (p.Thr838=) c.13A= (p.Thr5=) c.15A= n.2556A= c.2383A= (p.Thr795=) c.1873A= (p.Thr625=) c.313A= (p.Thr105=) c.304A= (p.Thr102=) n.2542A= | |
| 2 | g.15424381A>C | CA424870511 | NBAS | c.608T>G n.2524T>G c.2028T>G (p.Leu676=) c.2511T>G (p.Leu837=) c.12T>G (p.Leu4=) c.14T>G n.2555T>G c.2382T>G (p.Leu794=) c.1872T>G (p.Leu624=) c.312T>G (p.Leu104=) c.303T>G (p.Leu101=) n.2541T>G | gnomAD v4 |
| 2 | g.15424381A>G | CA424870513 | NBAS | c.608T>C n.2524T>C c.2028T>C (p.Leu676=) c.2511T>C (p.Leu837=) c.12T>C (p.Leu4=) c.14T>C n.2555T>C c.2382T>C (p.Leu794=) c.1872T>C (p.Leu624=) c.312T>C (p.Leu104=) c.303T>C (p.Leu101=) n.2541T>C | |
| 2 | g.15424381A>T | CA424870515 | NBAS | c.608T>A n.2524T>A c.2028T>A (p.Leu676=) c.2511T>A (p.Leu837=) c.12T>A (p.Leu4=) c.14T>A n.2555T>A c.2382T>A (p.Leu794=) c.1872T>A (p.Leu624=) c.312T>A (p.Leu104=) c.303T>A (p.Leu101=) n.2541T>A | |
| 2 | g.15424382A>C | CA345889810 | NBAS | c.607T>G n.2523T>G c.2027T>G (p.Leu676Arg) c.2510T>G (p.Leu837Arg) c.11T>G (p.Leu4Arg) c.13T>G n.2554T>G c.2381T>G (p.Leu794Arg) c.1871T>G (p.Leu624Arg) c.311T>G (p.Leu104Arg) c.302T>G (p.Leu101Arg) n.2540T>G | |
| 2 | g.15424382A>G | CA345889813 | NBAS | c.607T>C n.2523T>C c.2027T>C (p.Leu676Pro) c.2510T>C (p.Leu837Pro) c.11T>C (p.Leu4Pro) c.13T>C n.2554T>C c.2381T>C (p.Leu794Pro) c.1871T>C (p.Leu624Pro) c.311T>C (p.Leu104Pro) c.302T>C (p.Leu101Pro) n.2540T>C | |
| 2 | g.15424382A>T | CA345889814 | NBAS | c.607T>A n.2523T>A c.2027T>A (p.Leu676His) c.2510T>A (p.Leu837His) c.11T>A (p.Leu4His) c.13T>A n.2554T>A c.2381T>A (p.Leu794His) c.1871T>A (p.Leu624His) c.311T>A (p.Leu104His) c.302T>A (p.Leu101His) n.2540T>A | |
| 2 | g.15424383G>A | CA345889815 | NBAS | c.606C>T n.2522C>T c.2026C>T (p.Leu676Phe) c.2509C>T (p.Leu837Phe) c.10C>T (p.Leu4Phe) c.12C>T n.2553C>T c.2380C>T (p.Leu794Phe) c.1870C>T (p.Leu624Phe) c.310C>T (p.Leu104Phe) c.301C>T (p.Leu101Phe) n.2539C>T | |
| 2 | g.15424383G>C | CA345889816 | NBAS | c.606C>G n.2522C>G c.2026C>G (p.Leu676Val) c.2509C>G (p.Leu837Val) c.10C>G (p.Leu4Val) c.12C>G n.2553C>G c.2380C>G (p.Leu794Val) c.1870C>G (p.Leu624Val) c.310C>G (p.Leu104Val) c.301C>G (p.Leu101Val) n.2539C>G | |
| 2 | g.15424383G>T | CA345889817 | NBAS | c.606C>A n.2522C>A c.2026C>A (p.Leu676Ile) c.2509C>A (p.Leu837Ile) c.10C>A (p.Leu4Ile) c.12C>A n.2553C>A c.2380C>A (p.Leu794Ile) c.1870C>A (p.Leu624Ile) c.310C>A (p.Leu104Ile) c.301C>A (p.Leu101Ile) n.2539C>A | |
| 2 | g.15424384C>A | CA345889820 | NBAS | c.605G>T n.2521G>T c.2025G>T (p.Gln675His) c.2508G>T (p.Gln836His) c.9G>T (p.Gln3His) c.11G>T n.2552G>T c.2379G>T (p.Gln793His) c.1869G>T (p.Gln623His) c.309G>T (p.Gln103His) c.300G>T (p.Gln100His) n.2538G>T | |
| 2 | g.15424384C= | CA2490889326 | NBAS | c.605G= n.2521G= c.2025G= (p.Gln675=) c.2508G= (p.Gln836=) c.9G= (p.Gln3=) c.11G= n.2552G= c.2379G= (p.Gln793=) c.1869G= (p.Gln623=) c.309G= (p.Gln103=) c.300G= (p.Gln100=) n.2538G= | |
| 2 | g.15424384C>G | CA1536336 | NBAS | c.605G>C n.2521G>C c.2025G>C (p.Gln675His) c.2508G>C (p.Gln836His) c.9G>C (p.Gln3His) c.11G>C n.2552G>C c.2379G>C (p.Gln793His) c.1869G>C (p.Gln623His) c.309G>C (p.Gln103His) c.300G>C (p.Gln100His) n.2538G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.15424384C>T | CA424870519 | NBAS | c.605G>A n.2521G>A c.2025G>A (p.Gln675=) c.2508G>A (p.Gln836=) c.9G>A (p.Gln3=) c.11G>A n.2552G>A c.2379G>A (p.Gln793=) c.1869G>A (p.Gln623=) c.309G>A (p.Gln103=) c.300G>A (p.Gln100=) n.2538G>A | |
| 2 | g.15424385T>A | CA345889825 | NBAS | c.604A>T n.2520A>T c.2024A>T (p.Gln675Leu) c.2507A>T (p.Gln836Leu) c.8A>T (p.Gln3Leu) c.10A>T n.2551A>T c.2378A>T (p.Gln793Leu) c.1868A>T (p.Gln623Leu) c.308A>T (p.Gln103Leu) c.299A>T (p.Gln100Leu) n.2537A>T | |
| 2 | g.15424385T>C | CA345889828 | NBAS | c.604A>G n.2520A>G c.2024A>G (p.Gln675Arg) c.2507A>G (p.Gln836Arg) c.8A>G (p.Gln3Arg) c.10A>G n.2551A>G c.2378A>G (p.Gln793Arg) c.1868A>G (p.Gln623Arg) c.308A>G (p.Gln103Arg) c.299A>G (p.Gln100Arg) n.2537A>G | |
| 2 | g.15424385T>G | CA1536337 | NBAS | c.604A>C n.2520A>C c.2024A>C (p.Gln675Pro) c.2507A>C (p.Gln836Pro) c.8A>C (p.Gln3Pro) c.10A>C n.2551A>C c.2378A>C (p.Gln793Pro) c.1868A>C (p.Gln623Pro) c.308A>C (p.Gln103Pro) c.299A>C (p.Gln100Pro) n.2537A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424385T= | CA2490889327 | NBAS | c.604A= n.2520A= c.2024A= (p.Gln675=) c.2507A= (p.Gln836=) c.8A= (p.Gln3=) c.10A= n.2551A= c.2378A= (p.Gln793=) c.1868A= (p.Gln623=) c.308A= (p.Gln103=) c.299A= (p.Gln100=) n.2537A= | |
| 2 | g.15424386G>A | CA345889833 | NBAS | c.603C>T n.2519C>T c.2023C>T (p.Gln675Ter) c.2506C>T (p.Gln836Ter) c.7C>T (p.Gln3Ter) c.9C>T n.2550C>T c.2377C>T (p.Gln793Ter) c.1867C>T (p.Gln623Ter) c.307C>T (p.Gln103Ter) c.298C>T (p.Gln100Ter) n.2536C>T | dbSNP |
| 2 | g.15424386G>C | CA345889837 | NBAS | c.603C>G n.2519C>G c.2023C>G (p.Gln675Glu) c.2506C>G (p.Gln836Glu) c.7C>G (p.Gln3Glu) c.9C>G n.2550C>G c.2377C>G (p.Gln793Glu) c.1867C>G (p.Gln623Glu) c.307C>G (p.Gln103Glu) c.298C>G (p.Gln100Glu) n.2536C>G | |
| 2 | g.15424386G= | CA2490889328 | NBAS | c.603C= n.2519C= c.2023C= (p.Gln675=) c.2506C= (p.Gln836=) c.7C= (p.Gln3=) c.9C= n.2550C= c.2377C= (p.Gln793=) c.1867C= (p.Gln623=) c.307C= (p.Gln103=) c.298C= (p.Gln100=) n.2536C= | |
| 2 | g.15424386G>T | CA345889838 | NBAS | c.603C>A n.2519C>A c.2023C>A (p.Gln675Lys) c.2506C>A (p.Gln836Lys) c.7C>A (p.Gln3Lys) c.9C>A n.2550C>A c.2377C>A (p.Gln793Lys) c.1867C>A (p.Gln623Lys) c.307C>A (p.Gln103Lys) c.298C>A (p.Gln100Lys) n.2536C>A | |
| 2 | g.15424387G>A | CA424870527 | NBAS | c.602C>T n.2518C>T c.2022C>T (p.Thr674=) c.2505C>T (p.Thr835=) c.6C>T (p.Thr2=) c.8C>T n.2549C>T c.2376C>T (p.Thr792=) c.1866C>T (p.Thr622=) c.306C>T (p.Thr102=) c.297C>T (p.Thr99=) n.2535C>T | dbSNP gnomAD v4 |
| 2 | g.15424387G>C | CA424870528 | NBAS | c.602C>G n.2518C>G c.2022C>G (p.Thr674=) c.2505C>G (p.Thr835=) c.6C>G (p.Thr2=) c.8C>G n.2549C>G c.2376C>G (p.Thr792=) c.1866C>G (p.Thr622=) c.306C>G (p.Thr102=) c.297C>G (p.Thr99=) n.2535C>G | |
| 2 | g.15424387G= | CA2490889329 | NBAS | c.602C= n.2518C= c.2022C= (p.Thr674=) c.2505C= (p.Thr835=) c.6C= (p.Thr2=) c.8C= n.2549C= c.2376C= (p.Thr792=) c.1866C= (p.Thr622=) c.306C= (p.Thr102=) c.297C= (p.Thr99=) n.2535C= | |
| 2 | g.15424387G>T | CA424870529 | NBAS | c.602C>A n.2518C>A c.2022C>A (p.Thr674=) c.2505C>A (p.Thr835=) c.6C>A (p.Thr2=) c.8C>A n.2549C>A c.2376C>A (p.Thr792=) c.1866C>A (p.Thr622=) c.306C>A (p.Thr102=) c.297C>A (p.Thr99=) n.2535C>A | gnomAD v4 |
| 2 | g.15424388G>A | CA345889840 | NBAS | c.601C>T n.2517C>T c.2021C>T (p.Thr674Ile) c.2504C>T (p.Thr835Ile) c.5C>T (p.Thr2Ile) c.7C>T n.2548C>T c.2375C>T (p.Thr792Ile) c.1865C>T (p.Thr622Ile) c.305C>T (p.Thr102Ile) c.296C>T (p.Thr99Ile) n.2534C>T | ClinVar gnomAD v4 |
| 2 | g.15424388G>C | CA345889841 | NBAS | c.601C>G n.2517C>G c.2021C>G (p.Thr674Ser) c.2504C>G (p.Thr835Ser) c.5C>G (p.Thr2Ser) c.7C>G n.2548C>G c.2375C>G (p.Thr792Ser) c.1865C>G (p.Thr622Ser) c.305C>G (p.Thr102Ser) c.296C>G (p.Thr99Ser) n.2534C>G | gnomAD v4 |
| 2 | g.15424388G>T | CA345889843 | NBAS | c.601C>A n.2517C>A c.2021C>A (p.Thr674Asn) c.2504C>A (p.Thr835Asn) c.5C>A (p.Thr2Asn) c.7C>A n.2548C>A c.2375C>A (p.Thr792Asn) c.1865C>A (p.Thr622Asn) c.305C>A (p.Thr102Asn) c.296C>A (p.Thr99Asn) n.2534C>A | |
| 2 | g.15424389T>A | CA345889866 | NBAS | c.600A>T n.2516A>T c.2020A>T (p.Thr674Ser) c.2503A>T (p.Thr835Ser) c.4A>T (p.Thr2Ser) c.6A>T n.2547A>T c.2374A>T (p.Thr792Ser) c.1864A>T (p.Thr622Ser) c.304A>T (p.Thr102Ser) c.295A>T (p.Thr99Ser) n.2533A>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15424389T>C | CA345889856 | NBAS | c.600A>G n.2516A>G c.2020A>G (p.Thr674Ala) c.2503A>G (p.Thr835Ala) c.4A>G (p.Thr2Ala) c.6A>G n.2547A>G c.2374A>G (p.Thr792Ala) c.1864A>G (p.Thr622Ala) c.304A>G (p.Thr102Ala) c.295A>G (p.Thr99Ala) n.2533A>G | |
| 2 | g.15424389T>G | CA345889847 | NBAS | c.600A>C n.2516A>C c.2020A>C (p.Thr674Pro) c.2503A>C (p.Thr835Pro) c.4A>C (p.Thr2Pro) c.6A>C n.2547A>C c.2374A>C (p.Thr792Pro) c.1864A>C (p.Thr622Pro) c.304A>C (p.Thr102Pro) c.295A>C (p.Thr99Pro) n.2533A>C | |
| 2 | g.15424389T= | CA2490889330 | NBAS | c.600A= n.2516A= c.2020A= (p.Thr674=) c.2503A= (p.Thr835=) c.4A= (p.Thr2=) c.6A= n.2547A= c.2374A= (p.Thr792=) c.1864A= (p.Thr622=) c.304A= (p.Thr102=) c.295A= (p.Thr99=) n.2533A= | |
| 2 | g.15424390C>A | CA345889872 | NBAS | c.599G>T n.2515G>T c.2019G>T (p.Met673Ile) c.2502G>T (p.Met834Ile) c.3G>T (p.Met1Ile) c.5G>T n.2546G>T c.2373G>T (p.Met791Ile) c.1863G>T (p.Met621Ile) c.303G>T (p.Met101Ile) c.294G>T (p.Met98Ile) n.2532G>T | COSMIC |
| 2 | g.15424390C>G | CA345889876 | NBAS | c.599G>C n.2515G>C c.2019G>C (p.Met673Ile) c.2502G>C (p.Met834Ile) c.3G>C (p.Met1Ile) c.5G>C n.2546G>C c.2373G>C (p.Met791Ile) c.1863G>C (p.Met621Ile) c.303G>C (p.Met101Ile) c.294G>C (p.Met98Ile) n.2532G>C | |
| 2 | g.15424390C>T | CA345889886 | NBAS | c.599G>A n.2515G>A c.2019G>A (p.Met673Ile) c.2502G>A (p.Met834Ile) c.3G>A (p.Met1Ile) c.5G>A n.2546G>A c.2373G>A (p.Met791Ile) c.1863G>A (p.Met621Ile) c.303G>A (p.Met101Ile) c.294G>A (p.Met98Ile) n.2532G>A | |
| 2 | g.15424391A= | CA2490889331 | NBAS | c.598T= n.2514T= c.2018T= (p.Met673=) c.2501T= (p.Met834=) c.2T= (p.Met1=) c.4T= n.2545T= c.2372T= (p.Met791=) c.1862T= (p.Met621=) c.302T= (p.Met101=) c.293T= (p.Met98=) n.2531T= | |
| 2 | g.15424391A>C | CA345889889 | NBAS | c.598T>G n.2514T>G c.2018T>G (p.Met673Arg) c.2501T>G (p.Met834Arg) c.2T>G (p.Met1Arg) c.4T>G n.2545T>G c.2372T>G (p.Met791Arg) c.1862T>G (p.Met621Arg) c.302T>G (p.Met101Arg) c.293T>G (p.Met98Arg) n.2531T>G | |
| 2 | g.15424391A>G | CA345889897 | NBAS | c.598T>C n.2514T>C c.2018T>C (p.Met673Thr) c.2501T>C (p.Met834Thr) c.2T>C (p.Met1Thr) c.4T>C n.2545T>C c.2372T>C (p.Met791Thr) c.1862T>C (p.Met621Thr) c.302T>C (p.Met101Thr) c.293T>C (p.Met98Thr) n.2531T>C | |
| 2 | g.15424391A>T | CA345889899 | NBAS | c.598T>A n.2514T>A c.2018T>A (p.Met673Lys) c.2501T>A (p.Met834Lys) c.2T>A (p.Met1Lys) c.4T>A n.2545T>A c.2372T>A (p.Met791Lys) c.1862T>A (p.Met621Lys) c.302T>A (p.Met101Lys) c.293T>A (p.Met98Lys) n.2531T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424392T>A | CA345889910 | NBAS | c.597A>T n.2513A>T c.2017A>T (p.Met673Leu) c.2500A>T (p.Met834Leu) c.1A>T (p.Met1Leu) c.3A>T n.2544A>T c.2371A>T (p.Met791Leu) c.1861A>T (p.Met621Leu) c.301A>T (p.Met101Leu) c.292A>T (p.Met98Leu) n.2530A>T | gnomAD v4 |
| 2 | g.15424392T>C | CA345889903 | NBAS | c.597A>G n.2513A>G c.2017A>G (p.Met673Val) c.2500A>G (p.Met834Val) c.1A>G (p.Met1Val) c.3A>G n.2544A>G c.2371A>G (p.Met791Val) c.1861A>G (p.Met621Val) c.301A>G (p.Met101Val) c.292A>G (p.Met98Val) n.2530A>G | |
| 2 | g.15424392T>G | CA345889908 | NBAS | c.597A>C n.2513A>C c.2017A>C (p.Met673Leu) c.2500A>C (p.Met834Leu) c.1A>C (p.Met1Leu) c.3A>C n.2544A>C c.2371A>C (p.Met791Leu) c.1861A>C (p.Met621Leu) c.301A>C (p.Met101Leu) c.292A>C (p.Met98Leu) n.2530A>C | |
| 2 | g.15424393C>A | CA345889912 | NBAS | c.596G>T n.2512G>T c.2016G>T (p.Arg672Ser) c.2499G>T (p.Arg833Ser) c.2G>T n.2543G>T c.2370G>T (p.Arg790Ser) c.1860G>T (p.Arg620Ser) c.300G>T (p.Arg100Ser) c.291G>T (p.Arg97Ser) n.2529G>T | |
| 2 | g.15424393C= | CA2490889333 | NBAS | c.596G= n.2512G= c.2016G= (p.Arg672=) c.2499G= (p.Arg833=) c.2G= n.2543G= c.2370G= (p.Arg790=) c.1860G= (p.Arg620=) c.300G= (p.Arg100=) c.291G= (p.Arg97=) n.2529G= | |
| 2 | g.15424393C>G | CA345889914 | NBAS | c.596G>C n.2512G>C c.2016G>C (p.Arg672Ser) c.2499G>C (p.Arg833Ser) c.2G>C n.2543G>C c.2370G>C (p.Arg790Ser) c.1860G>C (p.Arg620Ser) c.300G>C (p.Arg100Ser) c.291G>C (p.Arg97Ser) n.2529G>C | |
| 2 | g.15424393C>T | CA424870539 | NBAS | c.596G>A n.2512G>A c.2016G>A (p.Arg672=) c.2499G>A (p.Arg833=) c.2G>A n.2543G>A c.2370G>A (p.Arg790=) c.1860G>A (p.Arg620=) c.300G>A (p.Arg100=) c.291G>A (p.Arg97=) n.2529G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424393_15424413delinsCCTGAACCTTAGTAACTCAGG | CA2490889332 | NBAS | c.576_596delinsCCTGAGTTACTAAGGTTCAGG n.2492_2512delinsCCTGAGTTACTAAGGTTCAGG c.1996_2016delinsCCTGAGTTACTAAGGTTCAGG (p.Pro666=) c.2479_2499delinsCCTGAGTTACTAAGGTTCAGG (p.Pro827=) n.2523_2543delinsCCTGAGTTACTAAGGTTCAGG c.2350_2370delinsCCTGAGTTACTAAGGTTCAGG (p.Pro784=) c.1840_1860delinsCCTGAGTTACTAAGGTTCAGG (p.Pro614=) c.280_300delinsCCTGAGTTACTAAGGTTCAGG (p.Pro94=) c.271_291delinsCCTGAGTTACTAAGGTTCAGG (p.Pro91=) n.2509_2529delinsCCTGAGTTACTAAGGTTCAGG | |
| 2 | g.15424394C>A | CA345889915 | NBAS | c.595G>T n.2511G>T c.2015G>T (p.Arg672Met) c.2498G>T (p.Arg833Met) c.1G>T n.2542G>T c.2369G>T (p.Arg790Met) c.1859G>T (p.Arg620Met) c.299G>T (p.Arg100Met) c.290G>T (p.Arg97Met) n.2528G>T | dbSNP |
| 2 | g.15424394C= | CA2490889334 | NBAS | c.595G= n.2511G= c.2015G= (p.Arg672=) c.2498G= (p.Arg833=) c.1G= n.2542G= c.2369G= (p.Arg790=) c.1859G= (p.Arg620=) c.299G= (p.Arg100=) c.290G= (p.Arg97=) n.2528G= | |
| 2 | g.15424394C>G | CA345889916 | NBAS | c.595G>C n.2511G>C c.2015G>C (p.Arg672Thr) c.2498G>C (p.Arg833Thr) c.1G>C n.2542G>C c.2369G>C (p.Arg790Thr) c.1859G>C (p.Arg620Thr) c.299G>C (p.Arg100Thr) c.290G>C (p.Arg97Thr) n.2528G>C | |
| 2 | g.15424394C>T | CA1536339 | NBAS | c.595G>A n.2511G>A c.2015G>A (p.Arg672Lys) c.2498G>A (p.Arg833Lys) c.1G>A n.2542G>A c.2369G>A (p.Arg790Lys) c.1859G>A (p.Arg620Lys) c.299G>A (p.Arg100Lys) c.290G>A (p.Arg97Lys) n.2528G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424397_15424416del | CA1536338 | NBAS | c.576_595del n.2492_2511del c.1996_2015del (p.Pro666AspfsTer?) c.2479_2498del (p.Pro827AspfsTer?) n.2523_2542del c.2350_2369del (p.Pro784AspfsTer?) c.1840_1859del (p.Pro614AspfsTer?) c.280_299del (p.Pro94AspfsTer?) c.271_290del (p.Pro91AspfsTer?) n.2509_2528del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15424395T>A | CA345889918 | NBAS | c.594A>T n.2510A>T c.2014A>T (p.Arg672Trp) c.2497A>T (p.Arg833Trp) n.2541A>T c.2368A>T (p.Arg790Trp) c.1858A>T (p.Arg620Trp) c.298A>T (p.Arg100Trp) c.289A>T (p.Arg97Trp) n.2527A>T | |
| 2 | g.15424395T>C | CA1536340 | NBAS | c.594A>G n.2510A>G c.2014A>G (p.Arg672Gly) c.2497A>G (p.Arg833Gly) n.2541A>G c.2368A>G (p.Arg790Gly) c.1858A>G (p.Arg620Gly) c.298A>G (p.Arg100Gly) c.289A>G (p.Arg97Gly) n.2527A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424395T>G | CA424870542 | NBAS | c.594A>C n.2510A>C c.2014A>C (p.Arg672=) c.2497A>C (p.Arg833=) n.2541A>C c.2368A>C (p.Arg790=) c.1858A>C (p.Arg620=) c.298A>C (p.Arg100=) c.289A>C (p.Arg97=) n.2527A>C | |
| 2 | g.15424395T= | CA2490889335 | NBAS | c.594A= n.2510A= c.2014A= (p.Arg672=) c.2497A= (p.Arg833=) n.2541A= c.2368A= (p.Arg790=) c.1858A= (p.Arg620=) c.298A= (p.Arg100=) c.289A= (p.Arg97=) n.2527A= | |
| 2 | g.15424396G>A | CA424870543 | NBAS | c.593C>T n.2509C>T c.2013C>T (p.Phe671=) c.2496C>T (p.Phe832=) n.2540C>T c.2367C>T (p.Phe789=) c.1857C>T (p.Phe619=) c.297C>T (p.Phe99=) c.288C>T (p.Phe96=) n.2526C>T | |
| 2 | g.15424396G>C | CA345889920 | NBAS | c.593C>G n.2509C>G c.2013C>G (p.Phe671Leu) c.2496C>G (p.Phe832Leu) n.2540C>G c.2367C>G (p.Phe789Leu) c.1857C>G (p.Phe619Leu) c.297C>G (p.Phe99Leu) c.288C>G (p.Phe96Leu) n.2526C>G | |
| 2 | g.15424396G>T | CA345889923 | NBAS | c.593C>A n.2509C>A c.2013C>A (p.Phe671Leu) c.2496C>A (p.Phe832Leu) n.2540C>A c.2367C>A (p.Phe789Leu) c.1857C>A (p.Phe619Leu) c.297C>A (p.Phe99Leu) c.288C>A (p.Phe96Leu) n.2526C>A | |
| 2 | g.15424397A>C | CA345889925 | NBAS | c.592T>G n.2508T>G c.2012T>G (p.Phe671Cys) c.2495T>G (p.Phe832Cys) n.2539T>G c.2366T>G (p.Phe789Cys) c.1856T>G (p.Phe619Cys) c.296T>G (p.Phe99Cys) c.287T>G (p.Phe96Cys) n.2525T>G | |
| 2 | g.15424397A>G | CA345889926 | NBAS | c.592T>C n.2508T>C c.2012T>C (p.Phe671Ser) c.2495T>C (p.Phe832Ser) n.2539T>C c.2366T>C (p.Phe789Ser) c.1856T>C (p.Phe619Ser) c.296T>C (p.Phe99Ser) c.287T>C (p.Phe96Ser) n.2525T>C | |
| 2 | g.15424397A>T | CA345889934 | NBAS | c.592T>A n.2508T>A c.2012T>A (p.Phe671Tyr) c.2495T>A (p.Phe832Tyr) n.2539T>A c.2366T>A (p.Phe789Tyr) c.1856T>A (p.Phe619Tyr) c.296T>A (p.Phe99Tyr) c.287T>A (p.Phe96Tyr) n.2525T>A | |
| 2 | g.15424398A>C | CA345889938 | NBAS | c.591T>G n.2507T>G c.2011T>G (p.Phe671Val) c.2494T>G (p.Phe832Val) n.2538T>G c.2365T>G (p.Phe789Val) c.1855T>G (p.Phe619Val) c.295T>G (p.Phe99Val) c.286T>G (p.Phe96Val) n.2524T>G | |
| 2 | g.15424398A>G | CA345889941 | NBAS | c.591T>C n.2507T>C c.2011T>C (p.Phe671Leu) c.2494T>C (p.Phe832Leu) n.2538T>C c.2365T>C (p.Phe789Leu) c.1855T>C (p.Phe619Leu) c.295T>C (p.Phe99Leu) c.286T>C (p.Phe96Leu) n.2524T>C | |
| 2 | g.15424398A>T | CA345889939 | NBAS | c.591T>A n.2507T>A c.2011T>A (p.Phe671Ile) c.2494T>A (p.Phe832Ile) n.2538T>A c.2365T>A (p.Phe789Ile) c.1855T>A (p.Phe619Ile) c.295T>A (p.Phe99Ile) c.286T>A (p.Phe96Ile) n.2524T>A | |
| 2 | g.15424399C>A | CA345889945 | NBAS | c.590G>T n.2506G>T c.2010G>T (p.Arg670Ser) c.2493G>T (p.Arg831Ser) n.2537G>T c.2364G>T (p.Arg788Ser) c.1854G>T (p.Arg618Ser) c.294G>T (p.Arg98Ser) c.285G>T (p.Arg95Ser) n.2523G>T | |
| 2 | g.15424399C= | CA2490889336 | NBAS | c.590G= n.2506G= c.2010G= (p.Arg670=) c.2493G= (p.Arg831=) n.2537G= c.2364G= (p.Arg788=) c.1854G= (p.Arg618=) c.294G= (p.Arg98=) c.285G= (p.Arg95=) n.2523G= | |
| 2 | g.15424399C>G | CA345889948 | NBAS | c.590G>C n.2506G>C c.2010G>C (p.Arg670Ser) c.2493G>C (p.Arg831Ser) n.2537G>C c.2364G>C (p.Arg788Ser) c.1854G>C (p.Arg618Ser) c.294G>C (p.Arg98Ser) c.285G>C (p.Arg95Ser) n.2523G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15424399C>T | CA1536341 | NBAS | c.590G>A n.2506G>A c.2010G>A (p.Arg670=) c.2493G>A (p.Arg831=) n.2537G>A c.2364G>A (p.Arg788=) c.1854G>A (p.Arg618=) c.294G>A (p.Arg98=) c.285G>A (p.Arg95=) n.2523G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424400C>A | CA1536342 | NBAS | c.589G>T n.2505G>T c.2009G>T (p.Arg670Met) c.2492G>T (p.Arg831Met) n.2536G>T c.2363G>T (p.Arg788Met) c.1853G>T (p.Arg618Met) c.293G>T (p.Arg98Met) c.284G>T (p.Arg95Met) n.2522G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15424400C= | CA2490889337 | NBAS | c.589G= n.2505G= c.2009G= (p.Arg670=) c.2492G= (p.Arg831=) n.2536G= c.2363G= (p.Arg788=) c.1853G= (p.Arg618=) c.293G= (p.Arg98=) c.284G= (p.Arg95=) n.2522G= | |
| 2 | g.15424400C>G | CA345889957 | NBAS | c.589G>C n.2505G>C c.2009G>C (p.Arg670Thr) c.2492G>C (p.Arg831Thr) n.2536G>C c.2363G>C (p.Arg788Thr) c.1853G>C (p.Arg618Thr) c.293G>C (p.Arg98Thr) c.284G>C (p.Arg95Thr) n.2522G>C | |
| 2 | g.15424400C>T | CA345889960 | NBAS | c.589G>A n.2505G>A c.2009G>A (p.Arg670Lys) c.2492G>A (p.Arg831Lys) n.2536G>A c.2363G>A (p.Arg788Lys) c.1853G>A (p.Arg618Lys) c.293G>A (p.Arg98Lys) c.284G>A (p.Arg95Lys) n.2522G>A | gnomAD v4 |
| 2 | g.15424400_15424401delinsCT | CA2490889338 | NBAS | c.588_589delinsAG n.2504_2505delinsAG c.2008_2009delinsAG (p.Arg670=) c.2491_2492delinsAG (p.Arg831=) n.2535_2536delinsAG c.2362_2363delinsAG (p.Arg788=) c.1852_1853delinsAG (p.Arg618=) c.292_293delinsAG (p.Arg98=) c.283_284delinsAG (p.Arg95=) n.2521_2522delinsAG | |
| 2 | g.15424401T>A | CA345889970 | NBAS | c.588A>T n.2504A>T c.2008A>T (p.Arg670Trp) c.2491A>T (p.Arg831Trp) n.2535A>T c.2362A>T (p.Arg788Trp) c.1852A>T (p.Arg618Trp) c.292A>T (p.Arg98Trp) c.283A>T (p.Arg95Trp) n.2521A>T | |
| 2 | g.15424401T>C | CA345889974 | NBAS | c.588A>G n.2504A>G c.2008A>G (p.Arg670Gly) c.2491A>G (p.Arg831Gly) n.2535A>G c.2362A>G (p.Arg788Gly) c.1852A>G (p.Arg618Gly) c.292A>G (p.Arg98Gly) c.283A>G (p.Arg95Gly) n.2521A>G | |
| 2 | g.15424401T>G | CA424870554 | NBAS | c.588A>C n.2504A>C c.2008A>C (p.Arg670=) c.2491A>C (p.Arg831=) n.2535A>C c.2362A>C (p.Arg788=) c.1852A>C (p.Arg618=) c.292A>C (p.Arg98=) c.283A>C (p.Arg95=) n.2521A>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15424401T= | CA2490889339 | NBAS | c.588A= n.2504A= c.2008A= (p.Arg670=) c.2491A= (p.Arg831=) n.2535A= c.2362A= (p.Arg788=) c.1852A= (p.Arg618=) c.292A= (p.Arg98=) c.283A= (p.Arg95=) n.2521A= | |
| 2 | g.15424402del | CA531034478 | NBAS | c.588del n.2504del c.2008del (p.Arg670GlyfsTer4) c.2491del (p.Arg831GlyfsTer4) n.2535del c.2362del (p.Arg788GlyfsTer4) c.1852del (p.Arg618GlyfsTer4) c.292del (p.Arg98GlyfsTer4) c.283del (p.Arg95GlyfsTer4) n.2521del | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15424402T>A | CA424870556 | NBAS | c.587A>T n.2503A>T c.2007A>T (p.Leu669=) c.2490A>T (p.Leu830=) n.2534A>T c.2361A>T (p.Leu787=) c.1851A>T (p.Leu617=) c.291A>T (p.Leu97=) c.282A>T (p.Leu94=) n.2520A>T | |
| 2 | g.15424402T>C | CA424870557 | NBAS | c.587A>G n.2503A>G c.2007A>G (p.Leu669=) c.2490A>G (p.Leu830=) n.2534A>G c.2361A>G (p.Leu787=) c.1851A>G (p.Leu617=) c.291A>G (p.Leu97=) c.282A>G (p.Leu94=) n.2520A>G | |
| 2 | g.15424402T>G | CA424870558 | NBAS | c.587A>C n.2503A>C c.2007A>C (p.Leu669=) c.2490A>C (p.Leu830=) n.2534A>C c.2361A>C (p.Leu787=) c.1851A>C (p.Leu617=) c.291A>C (p.Leu97=) c.282A>C (p.Leu94=) n.2520A>C | |
| 2 | g.15424403A>C | CA345889975 | NBAS | c.586T>G n.2502T>G c.2006T>G (p.Leu669Arg) c.2489T>G (p.Leu830Arg) n.2533T>G c.2360T>G (p.Leu787Arg) c.1850T>G (p.Leu617Arg) c.290T>G (p.Leu97Arg) c.281T>G (p.Leu94Arg) n.2519T>G | |
| 2 | g.15424403A>G | CA345889976 | NBAS | c.586T>C n.2502T>C c.2006T>C (p.Leu669Pro) c.2489T>C (p.Leu830Pro) n.2533T>C c.2360T>C (p.Leu787Pro) c.1850T>C (p.Leu617Pro) c.290T>C (p.Leu97Pro) c.281T>C (p.Leu94Pro) n.2519T>C | |
| 2 | g.15424403A>T | CA345889977 | NBAS | c.586T>A n.2502T>A c.2006T>A (p.Leu669Gln) c.2489T>A (p.Leu830Gln) n.2533T>A c.2360T>A (p.Leu787Gln) c.1850T>A (p.Leu617Gln) c.290T>A (p.Leu97Gln) c.281T>A (p.Leu94Gln) n.2519T>A | |
| 2 | g.15424404G>A | CA424870566 | NBAS | c.585C>T n.2501C>T c.2005C>T (p.Leu669=) c.2488C>T (p.Leu830=) n.2532C>T c.2359C>T (p.Leu787=) c.1849C>T (p.Leu617=) c.289C>T (p.Leu97=) c.280C>T (p.Leu94=) n.2518C>T | |
| 2 | g.15424404G>C | CA345889979 | NBAS | c.585C>G n.2501C>G c.2005C>G (p.Leu669Val) c.2488C>G (p.Leu830Val) n.2532C>G c.2359C>G (p.Leu787Val) c.1849C>G (p.Leu617Val) c.289C>G (p.Leu97Val) c.280C>G (p.Leu94Val) n.2518C>G | |
| 2 | g.15424404G>T | CA345889980 | NBAS | c.585C>A n.2501C>A c.2005C>A (p.Leu669Ile) c.2488C>A (p.Leu830Ile) n.2532C>A c.2359C>A (p.Leu787Ile) c.1849C>A (p.Leu617Ile) c.289C>A (p.Leu97Ile) c.280C>A (p.Leu94Ile) n.2518C>A | |
| 2 | g.15424405T>A | CA345889986 | NBAS | c.584A>T n.2500A>T c.2004A>T (p.Leu668Phe) c.2487A>T (p.Leu829Phe) n.2531A>T c.2358A>T (p.Leu786Phe) c.1848A>T (p.Leu616Phe) c.288A>T (p.Leu96Phe) c.279A>T (p.Leu93Phe) n.2517A>T | |
| 2 | g.15424405T>C | CA424870567 | NBAS | c.584A>G n.2500A>G c.2004A>G (p.Leu668=) c.2487A>G (p.Leu829=) n.2531A>G c.2358A>G (p.Leu786=) c.1848A>G (p.Leu616=) c.288A>G (p.Leu96=) c.279A>G (p.Leu93=) n.2517A>G | |
| 2 | g.15424405T>G | CA345889984 | NBAS | c.584A>C n.2500A>C c.2004A>C (p.Leu668Phe) c.2487A>C (p.Leu829Phe) n.2531A>C c.2358A>C (p.Leu786Phe) c.1848A>C (p.Leu616Phe) c.288A>C (p.Leu96Phe) c.279A>C (p.Leu93Phe) n.2517A>C | |
| 2 | g.15424406A>C | CA345889990 | NBAS | c.583T>G n.2499T>G c.2003T>G (p.Leu668Ter) c.2486T>G (p.Leu829Ter) n.2530T>G c.2357T>G (p.Leu786Ter) c.1847T>G (p.Leu616Ter) c.287T>G (p.Leu96Ter) c.278T>G (p.Leu93Ter) n.2516T>G | |
| 2 | g.15424406A>G | CA345889992 | NBAS | c.583T>C n.2499T>C c.2003T>C (p.Leu668Ser) c.2486T>C (p.Leu829Ser) n.2530T>C c.2357T>C (p.Leu786Ser) c.1847T>C (p.Leu616Ser) c.287T>C (p.Leu96Ser) c.278T>C (p.Leu93Ser) n.2516T>C | |
| 2 | g.15424406A>T | CA345889994 | NBAS | c.583T>A n.2499T>A c.2003T>A (p.Leu668Ter) c.2486T>A (p.Leu829Ter) n.2530T>A c.2357T>A (p.Leu786Ter) c.1847T>A (p.Leu616Ter) c.287T>A (p.Leu96Ter) c.278T>A (p.Leu93Ter) n.2516T>A | |
| 2 | g.15424407A>C | CA345889995 | NBAS | c.582T>G n.2498T>G c.2002T>G (p.Leu668Val) c.2485T>G (p.Leu829Val) n.2529T>G c.2356T>G (p.Leu786Val) c.1846T>G (p.Leu616Val) c.286T>G (p.Leu96Val) c.277T>G (p.Leu93Val) n.2515T>G | |
| 2 | g.15424407A>G | CA424870571 | NBAS | c.582T>C n.2498T>C c.2002T>C (p.Leu668=) c.2485T>C (p.Leu829=) n.2529T>C c.2356T>C (p.Leu786=) c.1846T>C (p.Leu616=) c.286T>C (p.Leu96=) c.277T>C (p.Leu93=) n.2515T>C | ClinVar gnomAD v4 |
| 2 | g.15424407A>T | CA345889998 | NBAS | c.582T>A n.2498T>A c.2002T>A (p.Leu668Ile) c.2485T>A (p.Leu829Ile) n.2529T>A c.2356T>A (p.Leu786Ile) c.1846T>A (p.Leu616Ile) c.286T>A (p.Leu96Ile) c.277T>A (p.Leu93Ile) n.2515T>A | |
| 2 | g.15424408C>A | CA345890002 | NBAS | c.581G>T n.2497G>T c.2001G>T (p.Glu667Asp) c.2484G>T (p.Glu828Asp) n.2528G>T c.2355G>T (p.Glu785Asp) c.1845G>T (p.Glu615Asp) c.285G>T (p.Glu95Asp) c.276G>T (p.Glu92Asp) n.2514G>T | |
| 2 | g.15424408C= | CA2490889340 | NBAS | c.581G= n.2497G= c.2001G= (p.Glu667=) c.2484G= (p.Glu828=) n.2528G= c.2355G= (p.Glu785=) c.1845G= (p.Glu615=) c.285G= (p.Glu95=) c.276G= (p.Glu92=) n.2514G= | |
| 2 | g.15424408C>G | CA345890006 | NBAS | c.581G>C n.2497G>C c.2001G>C (p.Glu667Asp) c.2484G>C (p.Glu828Asp) n.2528G>C c.2355G>C (p.Glu785Asp) c.1845G>C (p.Glu615Asp) c.285G>C (p.Glu95Asp) c.276G>C (p.Glu92Asp) n.2514G>C | |
| 2 | g.15424408C>T | CA424870572 | NBAS | c.581G>A n.2497G>A c.2001G>A (p.Glu667=) c.2484G>A (p.Glu828=) n.2528G>A c.2355G>A (p.Glu785=) c.1845G>A (p.Glu615=) c.285G>A (p.Glu95=) c.276G>A (p.Glu92=) n.2514G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424409T>A | CA345890012 | NBAS | c.580A>T n.2496A>T c.2000A>T (p.Glu667Val) c.2483A>T (p.Glu828Val) n.2527A>T c.2354A>T (p.Glu785Val) c.1844A>T (p.Glu615Val) c.284A>T (p.Glu95Val) c.275A>T (p.Glu92Val) n.2513A>T | dbSNP |
| 2 | g.15424409T>C | CA345890015 | NBAS | c.580A>G n.2496A>G c.2000A>G (p.Glu667Gly) c.2483A>G (p.Glu828Gly) n.2527A>G c.2354A>G (p.Glu785Gly) c.1844A>G (p.Glu615Gly) c.284A>G (p.Glu95Gly) c.275A>G (p.Glu92Gly) n.2513A>G | |
| 2 | g.15424409T>G | CA345890028 | NBAS | c.580A>C n.2496A>C c.2000A>C (p.Glu667Ala) c.2483A>C (p.Glu828Ala) n.2527A>C c.2354A>C (p.Glu785Ala) c.1844A>C (p.Glu615Ala) c.284A>C (p.Glu95Ala) c.275A>C (p.Glu92Ala) n.2513A>C | gnomAD v4 |
| 2 | g.15424409T= | CA2490889341 | NBAS | c.580A= n.2496A= c.2000A= (p.Glu667=) c.2483A= (p.Glu828=) n.2527A= c.2354A= (p.Glu785=) c.1844A= (p.Glu615=) c.284A= (p.Glu95=) c.275A= (p.Glu92=) n.2513A= | |
| 2 | g.15424410C>A | CA345890033 | NBAS | c.579G>T n.2495G>T c.1999G>T (p.Glu667Ter) c.2482G>T (p.Glu828Ter) n.2526G>T c.2353G>T (p.Glu785Ter) c.1843G>T (p.Glu615Ter) c.283G>T (p.Glu95Ter) c.274G>T (p.Glu92Ter) n.2512G>T | dbSNP gnomAD v4 |
| 2 | g.15424410C= | CA2490889342 | NBAS | c.579G= n.2495G= c.1999G= (p.Glu667=) c.2482G= (p.Glu828=) n.2526G= c.2353G= (p.Glu785=) c.1843G= (p.Glu615=) c.283G= (p.Glu95=) c.274G= (p.Glu92=) n.2512G= | |
| 2 | g.15424410C>G | CA345890036 | NBAS | c.579G>C n.2495G>C c.1999G>C (p.Glu667Gln) c.2482G>C (p.Glu828Gln) n.2526G>C c.2353G>C (p.Glu785Gln) c.1843G>C (p.Glu615Gln) c.283G>C (p.Glu95Gln) c.274G>C (p.Glu92Gln) n.2512G>C | ClinVar |
| 2 | g.15424410C>T | CA345890042 | NBAS | c.579G>A n.2495G>A c.1999G>A (p.Glu667Lys) c.2482G>A (p.Glu828Lys) n.2526G>A c.2353G>A (p.Glu785Lys) c.1843G>A (p.Glu615Lys) c.283G>A (p.Glu95Lys) c.274G>A (p.Glu92Lys) n.2512G>A | gnomAD v4 |
| 2 | g.15424411A>C | CA424870574 | NBAS | c.578T>G n.2494T>G c.1998T>G (p.Pro666=) c.2481T>G (p.Pro827=) n.2525T>G c.2352T>G (p.Pro784=) c.1842T>G (p.Pro614=) c.282T>G (p.Pro94=) c.273T>G (p.Pro91=) n.2511T>G | gnomAD v4 |
| 2 | g.15424411A>G | CA424870580 | NBAS | c.578T>C n.2494T>C c.1998T>C (p.Pro666=) c.2481T>C (p.Pro827=) n.2525T>C c.2352T>C (p.Pro784=) c.1842T>C (p.Pro614=) c.282T>C (p.Pro94=) c.273T>C (p.Pro91=) n.2511T>C | |
| 2 | g.15424411A>T | CA424870581 | NBAS | c.578T>A n.2494T>A c.1998T>A (p.Pro666=) c.2481T>A (p.Pro827=) n.2525T>A c.2352T>A (p.Pro784=) c.1842T>A (p.Pro614=) c.282T>A (p.Pro94=) c.273T>A (p.Pro91=) n.2511T>A | |
| 2 | g.15424412G>A | CA345890046 | NBAS | c.577C>T n.2493C>T c.1997C>T (p.Pro666Leu) c.2480C>T (p.Pro827Leu) n.2524C>T c.2351C>T (p.Pro784Leu) c.1841C>T (p.Pro614Leu) c.281C>T (p.Pro94Leu) c.272C>T (p.Pro91Leu) n.2510C>T | |
| 2 | g.15424412G>C | CA345890044 | NBAS | c.577C>G n.2493C>G c.1997C>G (p.Pro666Arg) c.2480C>G (p.Pro827Arg) n.2524C>G c.2351C>G (p.Pro784Arg) c.1841C>G (p.Pro614Arg) c.281C>G (p.Pro94Arg) c.272C>G (p.Pro91Arg) n.2510C>G | |
| 2 | g.15424412G>T | CA345890045 | NBAS | c.577C>A n.2493C>A c.1997C>A (p.Pro666His) c.2480C>A (p.Pro827His) n.2524C>A c.2351C>A (p.Pro784His) c.1841C>A (p.Pro614His) c.281C>A (p.Pro94His) c.272C>A (p.Pro91His) n.2510C>A | |
| 2 | g.15424413G>A | CA345890048 | NBAS | c.576C>T n.2492C>T c.1996C>T (p.Pro666Ser) c.2479C>T (p.Pro827Ser) n.2523C>T c.2350C>T (p.Pro784Ser) c.1840C>T (p.Pro614Ser) c.280C>T (p.Pro94Ser) c.271C>T (p.Pro91Ser) n.2509C>T | |
| 2 | g.15424413G>C | CA345890050 | NBAS | c.576C>G n.2492C>G c.1996C>G (p.Pro666Ala) c.2479C>G (p.Pro827Ala) n.2523C>G c.2350C>G (p.Pro784Ala) c.1840C>G (p.Pro614Ala) c.280C>G (p.Pro94Ala) c.271C>G (p.Pro91Ala) n.2509C>G | |
| 2 | g.15424413G>T | CA345890049 | NBAS | c.576C>A n.2492C>A c.1996C>A (p.Pro666Thr) c.2479C>A (p.Pro827Thr) n.2523C>A c.2350C>A (p.Pro784Thr) c.1840C>A (p.Pro614Thr) c.280C>A (p.Pro94Thr) c.271C>A (p.Pro91Thr) n.2509C>A | |
| 2 | g.15424414C>A | CA345890053 | NBAS | c.575G>T n.2491G>T c.1995G>T (p.Gln665His) c.2478G>T (p.Gln826His) n.2522G>T c.2349G>T (p.Gln783His) c.1839G>T (p.Gln613His) c.279G>T (p.Gln93His) c.270G>T (p.Gln90His) n.2508G>T | |
| 2 | g.15424414C>G | CA345890054 | NBAS | c.575G>C n.2491G>C c.1995G>C (p.Gln665His) c.2478G>C (p.Gln826His) n.2522G>C c.2349G>C (p.Gln783His) c.1839G>C (p.Gln613His) c.279G>C (p.Gln93His) c.270G>C (p.Gln90His) n.2508G>C | |
| 2 | g.15424414C>T | CA424870584 | NBAS | c.575G>A n.2491G>A c.1995G>A (p.Gln665=) c.2478G>A (p.Gln826=) n.2522G>A c.2349G>A (p.Gln783=) c.1839G>A (p.Gln613=) c.279G>A (p.Gln93=) c.270G>A (p.Gln90=) n.2508G>A | |
| 2 | g.15424415T>A | CA345890057 | NBAS | c.574A>T n.2490A>T c.1994A>T (p.Gln665Leu) c.2477A>T (p.Gln826Leu) n.2521A>T c.2348A>T (p.Gln783Leu) c.1838A>T (p.Gln613Leu) c.278A>T (p.Gln93Leu) c.269A>T (p.Gln90Leu) n.2507A>T | |
| 2 | g.15424415T>C | CA345890059 | NBAS | c.574A>G n.2490A>G c.1994A>G (p.Gln665Arg) c.2477A>G (p.Gln826Arg) n.2521A>G c.2348A>G (p.Gln783Arg) c.1838A>G (p.Gln613Arg) c.278A>G (p.Gln93Arg) c.269A>G (p.Gln90Arg) n.2507A>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15424415T>G | CA345890061 | NBAS | c.574A>C n.2490A>C c.1994A>C (p.Gln665Pro) c.2477A>C (p.Gln826Pro) n.2521A>C c.2348A>C (p.Gln783Pro) c.1838A>C (p.Gln613Pro) c.278A>C (p.Gln93Pro) c.269A>C (p.Gln90Pro) n.2507A>C | |
| 2 | g.15424415T= | CA2490889343 | NBAS | c.574A= n.2490A= c.1994A= (p.Gln665=) c.2477A= (p.Gln826=) n.2521A= c.2348A= (p.Gln783=) c.1838A= (p.Gln613=) c.278A= (p.Gln93=) c.269A= (p.Gln90=) n.2507A= | |
| 2 | g.15424416G>A | CA345890064 | NBAS | c.573C>T n.2489C>T c.1993C>T (p.Gln665Ter) c.2476C>T (p.Gln826Ter) n.2520C>T c.2347C>T (p.Gln783Ter) c.1837C>T (p.Gln613Ter) c.277C>T (p.Gln93Ter) c.268C>T (p.Gln90Ter) n.2506C>T | |
| 2 | g.15424416G>C | CA345890070 | NBAS | c.573C>G n.2489C>G c.1993C>G (p.Gln665Glu) c.2476C>G (p.Gln826Glu) n.2520C>G c.2347C>G (p.Gln783Glu) c.1837C>G (p.Gln613Glu) c.277C>G (p.Gln93Glu) c.268C>G (p.Gln90Glu) n.2506C>G | |
| 2 | g.15424416G= | CA2490889344 | NBAS | c.573C= n.2489C= c.1993C= (p.Gln665=) c.2476C= (p.Gln826=) n.2520C= c.2347C= (p.Gln783=) c.1837C= (p.Gln613=) c.277C= (p.Gln93=) c.268C= (p.Gln90=) n.2506C= | |
| 2 | g.15424416G>T | CA345890071 | NBAS | c.573C>A n.2489C>A c.1993C>A (p.Gln665Lys) c.2476C>A (p.Gln826Lys) n.2520C>A c.2347C>A (p.Gln783Lys) c.1837C>A (p.Gln613Lys) c.277C>A (p.Gln93Lys) c.268C>A (p.Gln90Lys) n.2506C>A | dbSNP gnomAD v2 |
| 2 | g.15424417T>A | CA424870591 | NBAS | c.572A>T n.2488A>T c.1992A>T (p.Ala664=) c.2475A>T (p.Ala825=) n.2519A>T c.2346A>T (p.Ala782=) c.1836A>T (p.Ala612=) c.276A>T (p.Ala92=) c.267A>T (p.Ala89=) n.2505A>T | |
| 2 | g.15424417T>C | CA424870592 | NBAS | c.572A>G n.2488A>G c.1992A>G (p.Ala664=) c.2475A>G (p.Ala825=) n.2519A>G c.2346A>G (p.Ala782=) c.1836A>G (p.Ala612=) c.276A>G (p.Ala92=) c.267A>G (p.Ala89=) n.2505A>G | |
| 2 | g.15424417T>G | CA424870593 | NBAS | c.572A>C n.2488A>C c.1992A>C (p.Ala664=) c.2475A>C (p.Ala825=) n.2519A>C c.2346A>C (p.Ala782=) c.1836A>C (p.Ala612=) c.276A>C (p.Ala92=) c.267A>C (p.Ala89=) n.2505A>C | |
| 2 | g.15424418G>A | CA345890074 | NBAS | c.571C>T n.2487C>T c.1991C>T (p.Ala664Val) c.2474C>T (p.Ala825Val) n.2518C>T c.2345C>T (p.Ala782Val) c.1835C>T (p.Ala612Val) c.275C>T (p.Ala92Val) c.266C>T (p.Ala89Val) n.2504C>T | |
| 2 | g.15424418G>C | CA345890077 | NBAS | c.571C>G n.2487C>G c.1991C>G (p.Ala664Gly) c.2474C>G (p.Ala825Gly) n.2518C>G c.2345C>G (p.Ala782Gly) c.1835C>G (p.Ala612Gly) c.275C>G (p.Ala92Gly) c.266C>G (p.Ala89Gly) n.2504C>G | |
| 2 | g.15424418G>T | CA345890079 | NBAS | c.571C>A n.2487C>A c.1991C>A (p.Ala664Glu) c.2474C>A (p.Ala825Glu) n.2518C>A c.2345C>A (p.Ala782Glu) c.1835C>A (p.Ala612Glu) c.275C>A (p.Ala92Glu) c.266C>A (p.Ala89Glu) n.2504C>A | |
| 2 | g.15424419C>A | CA345890086 | NBAS | c.570G>T n.2486G>T c.1990G>T (p.Ala664Ser) c.2473G>T (p.Ala825Ser) n.2517G>T c.2344G>T (p.Ala782Ser) c.1834G>T (p.Ala612Ser) c.274G>T (p.Ala92Ser) c.265G>T (p.Ala89Ser) n.2503G>T | |
| 2 | g.15424419C= | CA2490889345 | NBAS | c.570G= n.2486G= c.1990G= (p.Ala664=) c.2473G= (p.Ala825=) n.2517G= c.2344G= (p.Ala782=) c.1834G= (p.Ala612=) c.274G= (p.Ala92=) c.265G= (p.Ala89=) n.2503G= | |
| 2 | g.15424419C>G | CA345890080 | NBAS | c.570G>C n.2486G>C c.1990G>C (p.Ala664Pro) c.2473G>C (p.Ala825Pro) n.2517G>C c.2344G>C (p.Ala782Pro) c.1834G>C (p.Ala612Pro) c.274G>C (p.Ala92Pro) c.265G>C (p.Ala89Pro) n.2503G>C | |
| 2 | g.15424419C>T | CA1536343 | NBAS | c.570G>A n.2486G>A c.1990G>A (p.Ala664Thr) c.2473G>A (p.Ala825Thr) n.2517G>A c.2344G>A (p.Ala782Thr) c.1834G>A (p.Ala612Thr) c.274G>A (p.Ala92Thr) c.265G>A (p.Ala89Thr) n.2503G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15424420A>C | CA424870597 | NBAS | c.569T>G n.2485T>G c.1989T>G (p.Ala663=) c.2472T>G (p.Ala824=) n.2516T>G c.2343T>G (p.Ala781=) c.1833T>G (p.Ala611=) c.273T>G (p.Ala91=) c.264T>G (p.Ala88=) n.2502T>G | |
| 2 | g.15424420A>G | CA424870598 | NBAS | c.569T>C n.2485T>C c.1989T>C (p.Ala663=) c.2472T>C (p.Ala824=) n.2516T>C c.2343T>C (p.Ala781=) c.1833T>C (p.Ala611=) c.273T>C (p.Ala91=) c.264T>C (p.Ala88=) n.2502T>C | |
| 2 | g.15424420A>T | CA424870599 | NBAS | c.569T>A n.2485T>A c.1989T>A (p.Ala663=) c.2472T>A (p.Ala824=) n.2516T>A c.2343T>A (p.Ala781=) c.1833T>A (p.Ala611=) c.273T>A (p.Ala91=) c.264T>A (p.Ala88=) n.2502T>A | |
| 2 | g.15424421G>A | CA345890088 | NBAS | c.568C>T n.2484C>T c.1988C>T (p.Ala663Val) c.2471C>T (p.Ala824Val) n.2515C>T c.2342C>T (p.Ala781Val) c.1832C>T (p.Ala611Val) c.272C>T (p.Ala91Val) c.263C>T (p.Ala88Val) n.2501C>T | dbSNP |
| 2 | g.15424421G>C | CA345890092 | NBAS | c.568C>G n.2484C>G c.1988C>G (p.Ala663Gly) c.2471C>G (p.Ala824Gly) n.2515C>G c.2342C>G (p.Ala781Gly) c.1832C>G (p.Ala611Gly) c.272C>G (p.Ala91Gly) c.263C>G (p.Ala88Gly) n.2501C>G | |
| 2 | g.15424421G= | CA2490889346 | NBAS | c.568C= n.2484C= c.1988C= (p.Ala663=) c.2471C= (p.Ala824=) n.2515C= c.2342C= (p.Ala781=) c.1832C= (p.Ala611=) c.272C= (p.Ala91=) c.263C= (p.Ala88=) n.2501C= | |
| 2 | g.15424421G>T | CA345890096 | NBAS | c.568C>A n.2484C>A c.1988C>A (p.Ala663Asp) c.2471C>A (p.Ala824Asp) n.2515C>A c.2342C>A (p.Ala781Asp) c.1832C>A (p.Ala611Asp) c.272C>A (p.Ala91Asp) c.263C>A (p.Ala88Asp) n.2501C>A | dbSNP |
| 2 | g.15424422C>A | CA345890098 | NBAS | c.567G>T n.2483G>T c.1987G>T (p.Ala663Ser) c.2470G>T (p.Ala824Ser) n.2514G>T c.2341G>T (p.Ala781Ser) c.1831G>T (p.Ala611Ser) c.271G>T (p.Ala91Ser) c.262G>T (p.Ala88Ser) n.2500G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424422C= | CA2490889347 | NBAS | c.567G= n.2483G= c.1987G= (p.Ala663=) c.2470G= (p.Ala824=) n.2514G= c.2341G= (p.Ala781=) c.1831G= (p.Ala611=) c.271G= (p.Ala91=) c.262G= (p.Ala88=) n.2500G= | |
| 2 | g.15424422C>G | CA345890099 | NBAS | c.567G>C n.2483G>C c.1987G>C (p.Ala663Pro) c.2470G>C (p.Ala824Pro) n.2514G>C c.2341G>C (p.Ala781Pro) c.1831G>C (p.Ala611Pro) c.271G>C (p.Ala91Pro) c.262G>C (p.Ala88Pro) n.2500G>C | |
| 2 | g.15424422C>T | CA345890100 | NBAS | c.567G>A n.2483G>A c.1987G>A (p.Ala663Thr) c.2470G>A (p.Ala824Thr) n.2514G>A c.2341G>A (p.Ala781Thr) c.1831G>A (p.Ala611Thr) c.271G>A (p.Ala91Thr) c.262G>A (p.Ala88Thr) n.2500G>A | |
| 2 | g.15424423A>C | CA345890101 | NBAS | c.566T>G n.2482T>G c.1986T>G (p.Tyr662Ter) c.2469T>G (p.Tyr823Ter) n.2513T>G c.2340T>G (p.Tyr780Ter) c.1830T>G (p.Tyr610Ter) c.270T>G (p.Tyr90Ter) c.261T>G (p.Tyr87Ter) n.2499T>G | |
| 2 | g.15424423A>G | CA424870605 | NBAS | c.566T>C n.2482T>C c.1986T>C (p.Tyr662=) c.2469T>C (p.Tyr823=) n.2513T>C c.2340T>C (p.Tyr780=) c.1830T>C (p.Tyr610=) c.270T>C (p.Tyr90=) c.261T>C (p.Tyr87=) n.2499T>C | |
| 2 | g.15424423A>T | CA345890102 | NBAS | c.566T>A n.2482T>A c.1986T>A (p.Tyr662Ter) c.2469T>A (p.Tyr823Ter) n.2513T>A c.2340T>A (p.Tyr780Ter) c.1830T>A (p.Tyr610Ter) c.270T>A (p.Tyr90Ter) c.261T>A (p.Tyr87Ter) n.2499T>A | |
| 2 | g.15424424T>A | CA345890103 | NBAS | c.565A>T n.2481A>T c.1985A>T (p.Tyr662Phe) c.2468A>T (p.Tyr823Phe) n.2512A>T c.2339A>T (p.Tyr780Phe) c.1829A>T (p.Tyr610Phe) c.269A>T (p.Tyr90Phe) c.260A>T (p.Tyr87Phe) n.2498A>T | |
| 2 | g.15424424T>C | CA42632488 | NBAS | c.565A>G n.2481A>G c.1985A>G (p.Tyr662Cys) c.2468A>G (p.Tyr823Cys) n.2512A>G c.2339A>G (p.Tyr780Cys) c.1829A>G (p.Tyr610Cys) c.269A>G (p.Tyr90Cys) c.260A>G (p.Tyr87Cys) n.2498A>G | dbSNP COSMIC |
| 2 | g.15424424T>G | CA345890106 | NBAS | c.565A>C n.2481A>C c.1985A>C (p.Tyr662Ser) c.2468A>C (p.Tyr823Ser) n.2512A>C c.2339A>C (p.Tyr780Ser) c.1829A>C (p.Tyr610Ser) c.269A>C (p.Tyr90Ser) c.260A>C (p.Tyr87Ser) n.2498A>C | |
| 2 | g.15424424T= | CA2490889348 | NBAS | c.565A= n.2481A= c.1985A= (p.Tyr662=) c.2468A= (p.Tyr823=) n.2512A= c.2339A= (p.Tyr780=) c.1829A= (p.Tyr610=) c.269A= (p.Tyr90=) c.260A= (p.Tyr87=) n.2498A= | |
| 2 | g.15424425A>C | CA345890110 | NBAS | c.564T>G n.2480T>G c.1984T>G (p.Tyr662Asp) c.2467T>G (p.Tyr823Asp) n.2511T>G c.2338T>G (p.Tyr780Asp) c.1828T>G (p.Tyr610Asp) c.268T>G (p.Tyr90Asp) c.259T>G (p.Tyr87Asp) n.2497T>G | |
| 2 | g.15424425A>G | CA345890108 | NBAS | c.564T>C n.2480T>C c.1984T>C (p.Tyr662His) c.2467T>C (p.Tyr823His) n.2511T>C c.2338T>C (p.Tyr780His) c.1828T>C (p.Tyr610His) c.268T>C (p.Tyr90His) c.259T>C (p.Tyr87His) n.2497T>C | |
| 2 | g.15424425A>T | CA345890107 | NBAS | c.564T>A n.2480T>A c.1984T>A (p.Tyr662Asn) c.2467T>A (p.Tyr823Asn) n.2511T>A c.2338T>A (p.Tyr780Asn) c.1828T>A (p.Tyr610Asn) c.268T>A (p.Tyr90Asn) c.259T>A (p.Tyr87Asn) n.2497T>A | |
| 2 | g.15424426C>A | CA345890115 | NBAS | c.563G>T n.2479G>T c.1983G>T (p.Leu661Phe) c.2466G>T (p.Leu822Phe) n.2510G>T c.2337G>T (p.Leu779Phe) c.1827G>T (p.Leu609Phe) c.267G>T (p.Leu89Phe) c.258G>T (p.Leu86Phe) n.2496G>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15424426C= | CA2490889349 | NBAS | c.563G= n.2479G= c.1983G= (p.Leu661=) c.2466G= (p.Leu822=) n.2510G= c.2337G= (p.Leu779=) c.1827G= (p.Leu609=) c.267G= (p.Leu89=) c.258G= (p.Leu86=) n.2496G= | |
| 2 | g.15424426C>G | CA345890112 | NBAS | c.563G>C n.2479G>C c.1983G>C (p.Leu661Phe) c.2466G>C (p.Leu822Phe) n.2510G>C c.2337G>C (p.Leu779Phe) c.1827G>C (p.Leu609Phe) c.267G>C (p.Leu89Phe) c.258G>C (p.Leu86Phe) n.2496G>C | |
| 2 | g.15424426C>T | CA1536344 | NBAS | c.563G>A n.2479G>A c.1983G>A (p.Leu661=) c.2466G>A (p.Leu822=) n.2510G>A c.2337G>A (p.Leu779=) c.1827G>A (p.Leu609=) c.267G>A (p.Leu89=) c.258G>A (p.Leu86=) n.2496G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424427A= | CA2490889350 | NBAS | c.562T= n.2478T= c.1982T= (p.Leu661=) c.2465T= (p.Leu822=) n.2509T= c.2336T= (p.Leu779=) c.1826T= (p.Leu609=) c.266T= (p.Leu89=) c.257T= (p.Leu86=) n.2495T= | |
| 2 | g.15424427A>C | CA345890116 | NBAS | c.562T>G n.2478T>G c.1982T>G (p.Leu661Trp) c.2465T>G (p.Leu822Trp) n.2509T>G c.2336T>G (p.Leu779Trp) c.1826T>G (p.Leu609Trp) c.266T>G (p.Leu89Trp) c.257T>G (p.Leu86Trp) n.2495T>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15424427A>G | CA345890117 | NBAS | c.562T>C n.2478T>C c.1982T>C (p.Leu661Ser) c.2465T>C (p.Leu822Ser) n.2509T>C c.2336T>C (p.Leu779Ser) c.1826T>C (p.Leu609Ser) c.266T>C (p.Leu89Ser) c.257T>C (p.Leu86Ser) n.2495T>C | |
| 2 | g.15424427A>T | CA345890118 | NBAS | c.562T>A n.2478T>A c.1982T>A (p.Leu661Ter) c.2465T>A (p.Leu822Ter) n.2509T>A c.2336T>A (p.Leu779Ter) c.1826T>A (p.Leu609Ter) c.266T>A (p.Leu89Ter) c.257T>A (p.Leu86Ter) n.2495T>A | |
| 2 | g.15424428A>C | CA345890119 | NBAS | c.561T>G n.2477T>G c.1981T>G (p.Leu661Val) c.2464T>G (p.Leu822Val) n.2508T>G c.2335T>G (p.Leu779Val) c.1825T>G (p.Leu609Val) c.265T>G (p.Leu89Val) c.256T>G (p.Leu86Val) n.2494T>G | |
| 2 | g.15424428A>G | CA424870611 | NBAS | c.561T>C n.2477T>C c.1981T>C (p.Leu661=) c.2464T>C (p.Leu822=) n.2508T>C c.2335T>C (p.Leu779=) c.1825T>C (p.Leu609=) c.265T>C (p.Leu89=) c.256T>C (p.Leu86=) n.2494T>C | ClinVar |
| 2 | g.15424428A>T | CA345890121 | NBAS | c.561T>A n.2477T>A c.1981T>A (p.Leu661Met) c.2464T>A (p.Leu822Met) n.2508T>A c.2335T>A (p.Leu779Met) c.1825T>A (p.Leu609Met) c.265T>A (p.Leu89Met) c.256T>A (p.Leu86Met) n.2494T>A | |
| 2 | g.15424429G>A | CA424870612 | NBAS | c.560C>T n.2476C>T c.1980C>T (p.Phe660=) c.2463C>T (p.Phe821=) n.2507C>T c.2334C>T (p.Phe778=) c.1824C>T (p.Phe608=) c.264C>T (p.Phe88=) c.255C>T (p.Phe85=) n.2493C>T | |
| 2 | g.15424429G>C | CA345890123 | NBAS | c.560C>G n.2476C>G c.1980C>G (p.Phe660Leu) c.2463C>G (p.Phe821Leu) n.2507C>G c.2334C>G (p.Phe778Leu) c.1824C>G (p.Phe608Leu) c.264C>G (p.Phe88Leu) c.255C>G (p.Phe85Leu) n.2493C>G | |
| 2 | g.15424429G>T | CA345890125 | NBAS | c.560C>A n.2476C>A c.1980C>A (p.Phe660Leu) c.2463C>A (p.Phe821Leu) n.2507C>A c.2334C>A (p.Phe778Leu) c.1824C>A (p.Phe608Leu) c.264C>A (p.Phe88Leu) c.255C>A (p.Phe85Leu) n.2493C>A | |
| 2 | g.15424430A>C | CA345890131 | NBAS | c.559T>G n.2475T>G c.1979T>G (p.Phe660Cys) c.2462T>G (p.Phe821Cys) n.2506T>G c.2333T>G (p.Phe778Cys) c.1823T>G (p.Phe608Cys) c.263T>G (p.Phe88Cys) c.254T>G (p.Phe85Cys) n.2492T>G | |
| 2 | g.15424430A>G | CA345890132 | NBAS | c.559T>C n.2475T>C c.1979T>C (p.Phe660Ser) c.2462T>C (p.Phe821Ser) n.2506T>C c.2333T>C (p.Phe778Ser) c.1823T>C (p.Phe608Ser) c.263T>C (p.Phe88Ser) c.254T>C (p.Phe85Ser) n.2492T>C | |
| 2 | g.15424430A>T | CA345890138 | NBAS | c.559T>A n.2475T>A c.1979T>A (p.Phe660Tyr) c.2462T>A (p.Phe821Tyr) n.2506T>A c.2333T>A (p.Phe778Tyr) c.1823T>A (p.Phe608Tyr) c.263T>A (p.Phe88Tyr) c.254T>A (p.Phe85Tyr) n.2492T>A | |
| 2 | g.15424431A>C | CA345890145 | NBAS | c.558T>G n.2474T>G c.1978T>G (p.Phe660Val) c.2461T>G (p.Phe821Val) n.2505T>G c.2332T>G (p.Phe778Val) c.1822T>G (p.Phe608Val) c.262T>G (p.Phe88Val) c.253T>G (p.Phe85Val) n.2491T>G | |
| 2 | g.15424431A>G | CA345890142 | NBAS | c.558T>C n.2474T>C c.1978T>C (p.Phe660Leu) c.2461T>C (p.Phe821Leu) n.2505T>C c.2332T>C (p.Phe778Leu) c.1822T>C (p.Phe608Leu) c.262T>C (p.Phe88Leu) c.253T>C (p.Phe85Leu) n.2491T>C | |
| 2 | g.15424431A>T | CA345890139 | NBAS | c.558T>A n.2474T>A c.1978T>A (p.Phe660Ile) c.2461T>A (p.Phe821Ile) n.2505T>A c.2332T>A (p.Phe778Ile) c.1822T>A (p.Phe608Ile) c.262T>A (p.Phe88Ile) c.253T>A (p.Phe85Ile) n.2491T>A | |
| 2 | g.15424432T>A | CA345890147 | NBAS | c.557A>T n.2473A>T c.1977A>T (p.Glu659Asp) c.2460A>T (p.Glu820Asp) n.2504A>T c.2331A>T (p.Glu777Asp) c.1821A>T (p.Glu607Asp) c.261A>T (p.Glu87Asp) c.252A>T (p.Glu84Asp) n.2490A>T | |
| 2 | g.15424432T>C | CA424870615 | NBAS | c.557A>G n.2473A>G c.1977A>G (p.Glu659=) c.2460A>G (p.Glu820=) n.2504A>G c.2331A>G (p.Glu777=) c.1821A>G (p.Glu607=) c.261A>G (p.Glu87=) c.252A>G (p.Glu84=) n.2490A>G | gnomAD v4 |
| 2 | g.15424432T>G | CA345890149 | NBAS | c.557A>C n.2473A>C c.1977A>C (p.Glu659Asp) c.2460A>C (p.Glu820Asp) n.2504A>C c.2331A>C (p.Glu777Asp) c.1821A>C (p.Glu607Asp) c.261A>C (p.Glu87Asp) c.252A>C (p.Glu84Asp) n.2490A>C | |
| 2 | g.15424433T>A | CA345890151 | NBAS | c.556A>T n.2472A>T c.1976A>T (p.Glu659Val) c.2459A>T (p.Glu820Val) n.2503A>T c.2330A>T (p.Glu777Val) c.1820A>T (p.Glu607Val) c.260A>T (p.Glu87Val) c.251A>T (p.Glu84Val) n.2489A>T | |
| 2 | g.15424433T>C | CA345890153 | NBAS | c.556A>G n.2472A>G c.1976A>G (p.Glu659Gly) c.2459A>G (p.Glu820Gly) n.2503A>G c.2330A>G (p.Glu777Gly) c.1820A>G (p.Glu607Gly) c.260A>G (p.Glu87Gly) c.251A>G (p.Glu84Gly) n.2489A>G | dbSNP gnomAD v4 |
| 2 | g.15424433T>G | CA345890159 | NBAS | c.556A>C n.2472A>C c.1976A>C (p.Glu659Ala) c.2459A>C (p.Glu820Ala) n.2503A>C c.2330A>C (p.Glu777Ala) c.1820A>C (p.Glu607Ala) c.260A>C (p.Glu87Ala) c.251A>C (p.Glu84Ala) n.2489A>C | |
| 2 | g.15424433T= | CA2490889351 | NBAS | c.556A= n.2472A= c.1976A= (p.Glu659=) c.2459A= (p.Glu820=) n.2503A= c.2330A= (p.Glu777=) c.1820A= (p.Glu607=) c.260A= (p.Glu87=) c.251A= (p.Glu84=) n.2489A= | |
| 2 | g.15424434C>A | CA345890161 | NBAS | c.555G>T n.2471G>T c.1975G>T (p.Glu659Ter) c.2458G>T (p.Glu820Ter) n.2502G>T c.2329G>T (p.Glu777Ter) c.1819G>T (p.Glu607Ter) c.259G>T (p.Glu87Ter) c.250G>T (p.Glu84Ter) n.2488G>T | |
| 2 | g.15424434C>G | CA345890162 | NBAS | c.555G>C n.2471G>C c.1975G>C (p.Glu659Gln) c.2458G>C (p.Glu820Gln) n.2502G>C c.2329G>C (p.Glu777Gln) c.1819G>C (p.Glu607Gln) c.259G>C (p.Glu87Gln) c.250G>C (p.Glu84Gln) n.2488G>C | |
| 2 | g.15424434C>T | CA345890163 | NBAS | c.555G>A n.2471G>A c.1975G>A (p.Glu659Lys) c.2458G>A (p.Glu820Lys) n.2502G>A c.2329G>A (p.Glu777Lys) c.1819G>A (p.Glu607Lys) c.259G>A (p.Glu87Lys) c.250G>A (p.Glu84Lys) n.2488G>A | |
| 2 | g.15424435A>C | CA345890165 | NBAS | c.554T>G n.2470T>G c.1974T>G (p.Ser658Arg) c.2457T>G (p.Ser819Arg) n.2501T>G c.2328T>G (p.Ser776Arg) c.1818T>G (p.Ser606Arg) c.258T>G (p.Ser86Arg) c.249T>G (p.Ser83Arg) n.2487T>G | |
| 2 | g.15424435A>G | CA424870620 | NBAS | c.554T>C n.2470T>C c.1974T>C (p.Ser658=) c.2457T>C (p.Ser819=) n.2501T>C c.2328T>C (p.Ser776=) c.1818T>C (p.Ser606=) c.258T>C (p.Ser86=) c.249T>C (p.Ser83=) n.2487T>C | |
| 2 | g.15424435A>T | CA345890166 | NBAS | c.554T>A n.2470T>A c.1974T>A (p.Ser658Arg) c.2457T>A (p.Ser819Arg) n.2501T>A c.2328T>A (p.Ser776Arg) c.1818T>A (p.Ser606Arg) c.258T>A (p.Ser86Arg) c.249T>A (p.Ser83Arg) n.2487T>A | |
| 2 | g.15424436C>A | CA345890168 | NBAS | c.553G>T n.2469G>T c.1973G>T (p.Ser658Ile) c.2456G>T (p.Ser819Ile) n.2500G>T c.2327G>T (p.Ser776Ile) c.1817G>T (p.Ser606Ile) c.257G>T (p.Ser86Ile) c.248G>T (p.Ser83Ile) n.2486G>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.15424436C>G | CA345890169 | NBAS | c.553G>C n.2469G>C c.1973G>C (p.Ser658Thr) c.2456G>C (p.Ser819Thr) n.2500G>C c.2327G>C (p.Ser776Thr) c.1817G>C (p.Ser606Thr) c.257G>C (p.Ser86Thr) c.248G>C (p.Ser83Thr) n.2486G>C | |
| 2 | g.15424436C>T | CA345890172 | NBAS | c.553G>A n.2469G>A c.1973G>A (p.Ser658Asn) c.2456G>A (p.Ser819Asn) n.2500G>A c.2327G>A (p.Ser776Asn) c.1817G>A (p.Ser606Asn) c.257G>A (p.Ser86Asn) c.248G>A (p.Ser83Asn) n.2486G>A | |
| 2 | g.15424437T>A | CA345890175 | NBAS | c.552A>T n.2468A>T c.1972A>T (p.Ser658Cys) c.2455A>T (p.Ser819Cys) n.2499A>T c.2326A>T (p.Ser776Cys) c.1816A>T (p.Ser606Cys) c.256A>T (p.Ser86Cys) c.247A>T (p.Ser83Cys) n.2485A>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15424437T>C | CA345890177 | NBAS | c.552A>G n.2468A>G c.1972A>G (p.Ser658Gly) c.2455A>G (p.Ser819Gly) n.2499A>G c.2326A>G (p.Ser776Gly) c.1816A>G (p.Ser606Gly) c.256A>G (p.Ser86Gly) c.247A>G (p.Ser83Gly) n.2485A>G | gnomAD v4 |
| 2 | g.15424437T>G | CA345890174 | NBAS | c.552A>C n.2468A>C c.1972A>C (p.Ser658Arg) c.2455A>C (p.Ser819Arg) n.2499A>C c.2326A>C (p.Ser776Arg) c.1816A>C (p.Ser606Arg) c.256A>C (p.Ser86Arg) c.247A>C (p.Ser83Arg) n.2485A>C | |
| 2 | g.15424437T= | CA2490889352 | NBAS | c.552A= n.2468A= c.1972A= (p.Ser658=) c.2455A= (p.Ser819=) n.2499A= c.2326A= (p.Ser776=) c.1816A= (p.Ser606=) c.256A= (p.Ser86=) c.247A= (p.Ser83=) n.2485A= | |
| 2 | g.15424438T>A | CA345890178 | NBAS | c.551A>T n.2467A>T c.1971A>T (p.Glu657Asp) c.2454A>T (p.Glu818Asp) n.2498A>T c.2325A>T (p.Glu775Asp) c.1815A>T (p.Glu605Asp) c.255A>T (p.Glu85Asp) c.246A>T (p.Glu82Asp) n.2484A>T | |
| 2 | g.15424438T>C | CA424870623 | NBAS | c.551A>G n.2467A>G c.1971A>G (p.Glu657=) c.2454A>G (p.Glu818=) n.2498A>G c.2325A>G (p.Glu775=) c.1815A>G (p.Glu605=) c.255A>G (p.Glu85=) c.246A>G (p.Glu82=) n.2484A>G | |
| 2 | g.15424438T>G | CA345890180 | NBAS | c.551A>C n.2467A>C c.1971A>C (p.Glu657Asp) c.2454A>C (p.Glu818Asp) n.2498A>C c.2325A>C (p.Glu775Asp) c.1815A>C (p.Glu605Asp) c.255A>C (p.Glu85Asp) c.246A>C (p.Glu82Asp) n.2484A>C | gnomAD v4 |
| 2 | g.15424439T>A | CA345890182 | NBAS | c.550A>T n.2466A>T c.1970A>T (p.Glu657Val) c.2453A>T (p.Glu818Val) n.2497A>T c.2324A>T (p.Glu775Val) c.1814A>T (p.Glu605Val) c.254A>T (p.Glu85Val) c.245A>T (p.Glu82Val) n.2483A>T | |
| 2 | g.15424439T>C | CA1536345 | NBAS | c.550A>G n.2466A>G c.1970A>G (p.Glu657Gly) c.2453A>G (p.Glu818Gly) n.2497A>G c.2324A>G (p.Glu775Gly) c.1814A>G (p.Glu605Gly) c.254A>G (p.Glu85Gly) c.245A>G (p.Glu82Gly) n.2483A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424439T>G | CA345890184 | NBAS | c.550A>C n.2466A>C c.1970A>C (p.Glu657Ala) c.2453A>C (p.Glu818Ala) n.2497A>C c.2324A>C (p.Glu775Ala) c.1814A>C (p.Glu605Ala) c.254A>C (p.Glu85Ala) c.245A>C (p.Glu82Ala) n.2483A>C | |
| 2 | g.15424439T= | CA2490889353 | NBAS | c.550A= n.2466A= c.1970A= (p.Glu657=) c.2453A= (p.Glu818=) n.2497A= c.2324A= (p.Glu775=) c.1814A= (p.Glu605=) c.254A= (p.Glu85=) c.245A= (p.Glu82=) n.2483A= | |
| 2 | g.15424440C>A | CA345890186 | NBAS | c.549G>T n.2465G>T c.1969G>T (p.Glu657Ter) c.2452G>T (p.Glu818Ter) n.2496G>T c.2323G>T (p.Glu775Ter) c.1813G>T (p.Glu605Ter) c.253G>T (p.Glu85Ter) c.244G>T (p.Glu82Ter) n.2482G>T | |
| 2 | g.15424440C= | CA2490889354 | NBAS | c.549G= n.2465G= c.1969G= (p.Glu657=) c.2452G= (p.Glu818=) n.2496G= c.2323G= (p.Glu775=) c.1813G= (p.Glu605=) c.253G= (p.Glu85=) c.244G= (p.Glu82=) n.2482G= | |
| 2 | g.15424440C>G | CA345890188 | NBAS | c.549G>C n.2465G>C c.1969G>C (p.Glu657Gln) c.2452G>C (p.Glu818Gln) n.2496G>C c.2323G>C (p.Glu775Gln) c.1813G>C (p.Glu605Gln) c.253G>C (p.Glu85Gln) c.244G>C (p.Glu82Gln) n.2482G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424440C>T | CA345890190 | NBAS | c.549G>A n.2465G>A c.1969G>A (p.Glu657Lys) c.2452G>A (p.Glu818Lys) n.2496G>A c.2323G>A (p.Glu775Lys) c.1813G>A (p.Glu605Lys) c.253G>A (p.Glu85Lys) c.244G>A (p.Glu82Lys) n.2482G>A | |
| 2 | g.15424441A= | CA2490889355 | NBAS | c.548T= n.2464T= c.1968T= (p.Asp656=) c.2451T= (p.Asp817=) n.2495T= c.2322T= (p.Asp774=) c.1812T= (p.Asp604=) c.252T= (p.Asp84=) c.243T= (p.Asp81=) n.2481T= | |
| 2 | g.15424441A>C | CA345890193 | NBAS | c.548T>G n.2464T>G c.1968T>G (p.Asp656Glu) c.2451T>G (p.Asp817Glu) n.2495T>G c.2322T>G (p.Asp774Glu) c.1812T>G (p.Asp604Glu) c.252T>G (p.Asp84Glu) c.243T>G (p.Asp81Glu) n.2481T>G | |
| 2 | g.15424441A>G | CA424870626 | NBAS | c.548T>C n.2464T>C c.1968T>C (p.Asp656=) c.2451T>C (p.Asp817=) n.2495T>C c.2322T>C (p.Asp774=) c.1812T>C (p.Asp604=) c.252T>C (p.Asp84=) c.243T>C (p.Asp81=) n.2481T>C | gnomAD v4 |
| 2 | g.15424441A>T | CA1536346 | NBAS | c.548T>A n.2464T>A c.1968T>A (p.Asp656Glu) c.2451T>A (p.Asp817Glu) n.2495T>A c.2322T>A (p.Asp774Glu) c.1812T>A (p.Asp604Glu) c.252T>A (p.Asp84Glu) c.243T>A (p.Asp81Glu) n.2481T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15424442T>A | CA345890196 | NBAS | c.547A>T n.2463A>T c.1967A>T (p.Asp656Val) c.2450A>T (p.Asp817Val) n.2494A>T c.2321A>T (p.Asp774Val) c.1811A>T (p.Asp604Val) c.251A>T (p.Asp84Val) c.242A>T (p.Asp81Val) n.2480A>T | |
| 2 | g.15424442T>C | CA345890198 | NBAS | c.547A>G n.2463A>G c.1967A>G (p.Asp656Gly) c.2450A>G (p.Asp817Gly) n.2494A>G c.2321A>G (p.Asp774Gly) c.1811A>G (p.Asp604Gly) c.251A>G (p.Asp84Gly) c.242A>G (p.Asp81Gly) n.2480A>G | |
| 2 | g.15424442T>G | CA345890199 | NBAS | c.547A>C n.2463A>C c.1967A>C (p.Asp656Ala) c.2450A>C (p.Asp817Ala) n.2494A>C c.2321A>C (p.Asp774Ala) c.1811A>C (p.Asp604Ala) c.251A>C (p.Asp84Ala) c.242A>C (p.Asp81Ala) n.2480A>C | |
| 2 | g.15424443C>A | CA345890202 | NBAS | c.546G>T n.2462G>T c.1966G>T (p.Asp656Tyr) c.2449G>T (p.Asp817Tyr) n.2493G>T c.2320G>T (p.Asp774Tyr) c.1810G>T (p.Asp604Tyr) c.250G>T (p.Asp84Tyr) c.241G>T (p.Asp81Tyr) n.2479G>T | |
| 2 | g.15424443C= | CA2490889356 | NBAS | c.546G= n.2462G= c.1966G= (p.Asp656=) c.2449G= (p.Asp817=) n.2493G= c.2320G= (p.Asp774=) c.1810G= (p.Asp604=) c.250G= (p.Asp84=) c.241G= (p.Asp81=) n.2479G= | |
| 2 | g.15424443C>G | CA345890204 | NBAS | c.546G>C n.2462G>C c.1966G>C (p.Asp656His) c.2449G>C (p.Asp817His) n.2493G>C c.2320G>C (p.Asp774His) c.1810G>C (p.Asp604His) c.250G>C (p.Asp84His) c.241G>C (p.Asp81His) n.2479G>C | |
| 2 | g.15424443C>T | CA345890206 | NBAS | c.546G>A n.2462G>A c.1966G>A (p.Asp656Asn) c.2449G>A (p.Asp817Asn) n.2493G>A c.2320G>A (p.Asp774Asn) c.1810G>A (p.Asp604Asn) c.250G>A (p.Asp84Asn) c.241G>A (p.Asp81Asn) n.2479G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15424444T>A | CA345890210 | NBAS | c.545A>T n.2461A>T c.1965A>T (p.Gln655His) c.2448A>T (p.Gln816His) n.2492A>T c.2319A>T (p.Gln773His) c.1809A>T (p.Gln603His) c.249A>T (p.Gln83His) c.240A>T (p.Gln80His) n.2478A>T | |
| 2 | g.15424444T>C | CA424870627 | NBAS | c.545A>G n.2461A>G c.1965A>G (p.Gln655=) c.2448A>G (p.Gln816=) n.2492A>G c.2319A>G (p.Gln773=) c.1809A>G (p.Gln603=) c.249A>G (p.Gln83=) c.240A>G (p.Gln80=) n.2478A>G | |
| 2 | g.15424444T>G | CA345890208 | NBAS | c.545A>C n.2461A>C c.1965A>C (p.Gln655His) c.2448A>C (p.Gln816His) n.2492A>C c.2319A>C (p.Gln773His) c.1809A>C (p.Gln603His) c.249A>C (p.Gln83His) c.240A>C (p.Gln80His) n.2478A>C | |
| 2 | g.15424445T>A | CA345890213 | NBAS | c.544A>T n.2460A>T c.1964A>T (p.Gln655Leu) c.2447A>T (p.Gln816Leu) n.2491A>T c.2318A>T (p.Gln773Leu) c.1808A>T (p.Gln603Leu) c.248A>T (p.Gln83Leu) c.239A>T (p.Gln80Leu) n.2477A>T | |
| 2 | g.15424445T>C | CA345890214 | NBAS | c.544A>G n.2460A>G c.1964A>G (p.Gln655Arg) c.2447A>G (p.Gln816Arg) n.2491A>G c.2318A>G (p.Gln773Arg) c.1808A>G (p.Gln603Arg) c.248A>G (p.Gln83Arg) c.239A>G (p.Gln80Arg) n.2477A>G | |
| 2 | g.15424445T>G | CA345890216 | NBAS | c.544A>C n.2460A>C c.1964A>C (p.Gln655Pro) c.2447A>C (p.Gln816Pro) n.2491A>C c.2318A>C (p.Gln773Pro) c.1808A>C (p.Gln603Pro) c.248A>C (p.Gln83Pro) c.239A>C (p.Gln80Pro) n.2477A>C | |
| 2 | g.15424445T= | CA2490889357 | NBAS | c.544A= n.2460A= c.1964A= (p.Gln655=) c.2447A= (p.Gln816=) n.2491A= c.2318A= (p.Gln773=) c.1808A= (p.Gln603=) c.248A= (p.Gln83=) c.239A= (p.Gln80=) n.2477A= | |
| 2 | g.15424446G>A | CA345890221 | NBAS | c.543C>T n.2459C>T c.1963C>T (p.Gln655Ter) c.2446C>T (p.Gln816Ter) n.2490C>T c.2317C>T (p.Gln773Ter) c.1807C>T (p.Gln603Ter) c.247C>T (p.Gln83Ter) c.238C>T (p.Gln80Ter) n.2476C>T | |
| 2 | g.15424446G>C | CA345890229 | NBAS | c.543C>G n.2459C>G c.1963C>G (p.Gln655Glu) c.2446C>G (p.Gln816Glu) n.2490C>G c.2317C>G (p.Gln773Glu) c.1807C>G (p.Gln603Glu) c.247C>G (p.Gln83Glu) c.238C>G (p.Gln80Glu) n.2476C>G | |
| 2 | g.15424446G>T | CA345890234 | NBAS | c.543C>A n.2459C>A c.1963C>A (p.Gln655Lys) c.2446C>A (p.Gln816Lys) n.2490C>A c.2317C>A (p.Gln773Lys) c.1807C>A (p.Gln603Lys) c.247C>A (p.Gln83Lys) c.238C>A (p.Gln80Lys) n.2476C>A | |
| 2 | g.15424447dup | CA2490889358 | NBAS | c.543dup n.2459dup c.1963dup (p.Gln655ProfsTer3) c.2446dup (p.Gln816ProfsTer3) n.2490dup c.2317dup (p.Gln773ProfsTer3) c.1807dup (p.Gln603ProfsTer3) c.247dup (p.Gln83ProfsTer3) c.238dup (p.Gln80ProfsTer3) n.2476dup | dbSNP |
| 2 | g.15424447G>A | CA424870629 | NBAS | c.542C>T n.2458C>T c.1962C>T (p.Leu654=) c.2445C>T (p.Leu815=) n.2489C>T c.2316C>T (p.Leu772=) c.1806C>T (p.Leu602=) c.246C>T (p.Leu82=) c.237C>T (p.Leu79=) n.2475C>T | |
| 2 | g.15424447G>C | CA424870630 | NBAS | c.542C>G n.2458C>G c.1962C>G (p.Leu654=) c.2445C>G (p.Leu815=) n.2489C>G c.2316C>G (p.Leu772=) c.1806C>G (p.Leu602=) c.246C>G (p.Leu82=) c.237C>G (p.Leu79=) n.2475C>G | gnomAD v4 |
| 2 | g.15424447G>T | CA424870631 | NBAS | c.542C>A n.2458C>A c.1962C>A (p.Leu654=) c.2445C>A (p.Leu815=) n.2489C>A c.2316C>A (p.Leu772=) c.1806C>A (p.Leu602=) c.246C>A (p.Leu82=) c.237C>A (p.Leu79=) n.2475C>A | |
| 2 | g.15424448_15424449insTATAGATGAAATTGATGA | CA2580063647 | NBAS | c.542_543insATCAATTTCATCTATATC n.2458_2459insATCAATTTCATCTATATC c.1962_1963insATCAATTTCATCTATATC (p.Leu654_Gln655insIleAsnPheIleTyrIle) c.2445_2446insATCAATTTCATCTATATC (p.Leu815_Gln816insIleAsnPheIleTyrIle) n.2489_2490insATCAATTTCATCTATATC c.2316_2317insATCAATTTCATCTATATC (p.Leu772_Gln773insIleAsnPheIleTyrIle) c.1806_1807insATCAATTTCATCTATATC (p.Leu602_Gln603insIleAsnPheIleTyrIle) c.246_247insATCAATTTCATCTATATC (p.Leu82_Gln83insIleAsnPheIleTyrIle) c.237_238insATCAATTTCATCTATATC (p.Leu79_Gln80insIleAsnPheIleTyrIle) n.2475_2476insATCAATTTCATCTATATC | ClinVar |
| 2 | g.15424448A>C | CA345890236 | NBAS | c.541T>G n.2457T>G c.1961T>G (p.Leu654Arg) c.2444T>G (p.Leu815Arg) n.2488T>G c.2315T>G (p.Leu772Arg) c.1805T>G (p.Leu602Arg) c.245T>G (p.Leu82Arg) c.236T>G (p.Leu79Arg) n.2474T>G | |
| 2 | g.15424448A>G | CA345890240 | NBAS | c.541T>C n.2457T>C c.1961T>C (p.Leu654Pro) c.2444T>C (p.Leu815Pro) n.2488T>C c.2315T>C (p.Leu772Pro) c.1805T>C (p.Leu602Pro) c.245T>C (p.Leu82Pro) c.236T>C (p.Leu79Pro) n.2474T>C | |
| 2 | g.15424448A>T | CA345890242 | NBAS | c.541T>A n.2457T>A c.1961T>A (p.Leu654His) c.2444T>A (p.Leu815His) n.2488T>A c.2315T>A (p.Leu772His) c.1805T>A (p.Leu602His) c.245T>A (p.Leu82His) c.236T>A (p.Leu79His) n.2474T>A | |
| 2 | g.15424449G>A | CA345890246 | NBAS | c.540C>T n.2456C>T c.1960C>T (p.Leu654Phe) c.2443C>T (p.Leu815Phe) n.2487C>T c.2314C>T (p.Leu772Phe) c.1804C>T (p.Leu602Phe) c.244C>T (p.Leu82Phe) c.235C>T (p.Leu79Phe) n.2473C>T | ClinVar |
| 2 | g.15424449G>C | CA345890251 | NBAS | c.540C>G n.2456C>G c.1960C>G (p.Leu654Val) c.2443C>G (p.Leu815Val) n.2487C>G c.2314C>G (p.Leu772Val) c.1804C>G (p.Leu602Val) c.244C>G (p.Leu82Val) c.235C>G (p.Leu79Val) n.2473C>G | |
| 2 | g.15424449G>T | CA345890253 | NBAS | c.540C>A n.2456C>A c.1960C>A (p.Leu654Ile) c.2443C>A (p.Leu815Ile) n.2487C>A c.2314C>A (p.Leu772Ile) c.1804C>A (p.Leu602Ile) c.244C>A (p.Leu82Ile) c.235C>A (p.Leu79Ile) n.2473C>A | |
| 2 | g.15424450A= | CA2490889359 | NBAS | c.539T= n.2455T= c.1959T= (p.Asn653=) c.2442T= (p.Asn814=) n.2486T= c.2313T= (p.Asn771=) c.1803T= (p.Asn601=) c.243T= (p.Asn81=) c.234T= (p.Asn78=) n.2472T= | |
| 2 | g.15424450A>C | CA345890256 | NBAS | c.539T>G n.2455T>G c.1959T>G (p.Asn653Lys) c.2442T>G (p.Asn814Lys) n.2486T>G c.2313T>G (p.Asn771Lys) c.1803T>G (p.Asn601Lys) c.243T>G (p.Asn81Lys) c.234T>G (p.Asn78Lys) n.2472T>G | |
| 2 | g.15424450A>G | CA424870632 | NBAS | c.539T>C n.2455T>C c.1959T>C (p.Asn653=) c.2442T>C (p.Asn814=) n.2486T>C c.2313T>C (p.Asn771=) c.1803T>C (p.Asn601=) c.243T>C (p.Asn81=) c.234T>C (p.Asn78=) n.2472T>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15424450A>T | CA345890259 | NBAS | c.539T>A n.2455T>A c.1959T>A (p.Asn653Lys) c.2442T>A (p.Asn814Lys) n.2486T>A c.2313T>A (p.Asn771Lys) c.1803T>A (p.Asn601Lys) c.243T>A (p.Asn81Lys) c.234T>A (p.Asn78Lys) n.2472T>A | |
| 2 | g.15424451T>A | CA345890261 | NBAS | c.538A>T n.2454A>T c.1958A>T (p.Asn653Ile) c.2441A>T (p.Asn814Ile) n.2485A>T c.2312A>T (p.Asn771Ile) c.1802A>T (p.Asn601Ile) c.242A>T (p.Asn81Ile) c.233A>T (p.Asn78Ile) n.2471A>T | |
| 2 | g.15424451T>C | CA345890263 | NBAS | c.538A>G n.2454A>G c.1958A>G (p.Asn653Ser) c.2441A>G (p.Asn814Ser) n.2485A>G c.2312A>G (p.Asn771Ser) c.1802A>G (p.Asn601Ser) c.242A>G (p.Asn81Ser) c.233A>G (p.Asn78Ser) n.2471A>G | gnomAD v4 |
| 2 | g.15424451T>G | CA345890273 | NBAS | c.538A>C n.2454A>C c.1958A>C (p.Asn653Thr) c.2441A>C (p.Asn814Thr) n.2485A>C c.2312A>C (p.Asn771Thr) c.1802A>C (p.Asn601Thr) c.242A>C (p.Asn81Thr) c.233A>C (p.Asn78Thr) n.2471A>C | |
| 2 | g.15424452T>A | CA345890277 | NBAS | c.537A>T n.2453A>T c.1957A>T (p.Asn653Tyr) c.2440A>T (p.Asn814Tyr) n.2484A>T c.2311A>T (p.Asn771Tyr) c.1801A>T (p.Asn601Tyr) c.241A>T (p.Asn81Tyr) c.232A>T (p.Asn78Tyr) n.2470A>T | |
| 2 | g.15424452T>C | CA345890278 | NBAS | c.537A>G n.2453A>G c.1957A>G (p.Asn653Asp) c.2440A>G (p.Asn814Asp) n.2484A>G c.2311A>G (p.Asn771Asp) c.1801A>G (p.Asn601Asp) c.241A>G (p.Asn81Asp) c.232A>G (p.Asn78Asp) n.2470A>G | |
| 2 | g.15424452T>G | CA345890280 | NBAS | c.537A>C n.2453A>C c.1957A>C (p.Asn653His) c.2440A>C (p.Asn814His) n.2484A>C c.2311A>C (p.Asn771His) c.1801A>C (p.Asn601His) c.241A>C (p.Asn81His) c.232A>C (p.Asn78His) n.2470A>C | |
| 2 | g.15424453C>A | CA424870633 | NBAS | c.536G>T n.2452G>T c.1956G>T (p.Pro652=) c.2439G>T (p.Pro813=) n.2483G>T c.2310G>T (p.Pro770=) c.1800G>T (p.Pro600=) c.240G>T (p.Pro80=) c.231G>T (p.Pro77=) n.2469G>T | gnomAD v4 |
| 2 | g.15424453C= | CA2490889360 | NBAS | c.536G= n.2452G= c.1956G= (p.Pro652=) c.2439G= (p.Pro813=) n.2483G= c.2310G= (p.Pro770=) c.1800G= (p.Pro600=) c.240G= (p.Pro80=) c.231G= (p.Pro77=) n.2469G= | |
| 2 | g.15424453C>G | CA424870634 | NBAS | c.536G>C n.2452G>C c.1956G>C (p.Pro652=) c.2439G>C (p.Pro813=) n.2483G>C c.2310G>C (p.Pro770=) c.1800G>C (p.Pro600=) c.240G>C (p.Pro80=) c.231G>C (p.Pro77=) n.2469G>C | |
| 2 | g.15424453C>T | CA1536347 | NBAS | c.536G>A n.2452G>A c.1956G>A (p.Pro652=) c.2439G>A (p.Pro813=) n.2483G>A c.2310G>A (p.Pro770=) c.1800G>A (p.Pro600=) c.240G>A (p.Pro80=) c.231G>A (p.Pro77=) n.2469G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15424454G>A | CA1536348 | NBAS | c.535C>T n.2451C>T c.1955C>T (p.Pro652Leu) c.2438C>T (p.Pro813Leu) n.2482C>T c.2309C>T (p.Pro770Leu) c.1799C>T (p.Pro600Leu) c.239C>T (p.Pro80Leu) c.230C>T (p.Pro77Leu) n.2468C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15424454G>C | CA345890289 | NBAS | c.535C>G n.2451C>G c.1955C>G (p.Pro652Arg) c.2438C>G (p.Pro813Arg) n.2482C>G c.2309C>G (p.Pro770Arg) c.1799C>G (p.Pro600Arg) c.239C>G (p.Pro80Arg) c.230C>G (p.Pro77Arg) n.2468C>G | |
| 2 | g.15424454G= | CA2490889361 | NBAS | c.535C= n.2451C= c.1955C= (p.Pro652=) c.2438C= (p.Pro813=) n.2482C= c.2309C= (p.Pro770=) c.1799C= (p.Pro600=) c.239C= (p.Pro80=) c.230C= (p.Pro77=) n.2468C= | |
| 2 | g.15424454G>T | CA345890292 | NBAS | c.535C>A n.2451C>A c.1955C>A (p.Pro652Gln) c.2438C>A (p.Pro813Gln) n.2482C>A c.2309C>A (p.Pro770Gln) c.1799C>A (p.Pro600Gln) c.239C>A (p.Pro80Gln) c.230C>A (p.Pro77Gln) n.2468C>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15424455G>A | CA345890295 | NBAS | c.534C>T n.2450C>T c.1954C>T (p.Pro652Ser) c.2437C>T (p.Pro813Ser) n.2481C>T c.2308C>T (p.Pro770Ser) c.1798C>T (p.Pro600Ser) c.238C>T (p.Pro80Ser) c.229C>T (p.Pro77Ser) n.2467C>T | |
| 2 | g.15424455G>C | CA345890300 | NBAS | c.534C>G n.2450C>G c.1954C>G (p.Pro652Ala) c.2437C>G (p.Pro813Ala) n.2481C>G c.2308C>G (p.Pro770Ala) c.1798C>G (p.Pro600Ala) c.238C>G (p.Pro80Ala) c.229C>G (p.Pro77Ala) n.2467C>G | |
| 2 | g.15424455G>T | CA345890303 | NBAS | c.534C>A n.2450C>A c.1954C>A (p.Pro652Thr) c.2437C>A (p.Pro813Thr) n.2481C>A c.2308C>A (p.Pro770Thr) c.1798C>A (p.Pro600Thr) c.238C>A (p.Pro80Thr) c.229C>A (p.Pro77Thr) n.2467C>A | |
| 2 | g.15424456C>A | CA345890307 | NBAS | c.533G>T n.2449G>T c.1953G>T (p.Glu651Asp) c.2436G>T (p.Glu812Asp) n.2480G>T c.2307G>T (p.Glu769Asp) c.1797G>T (p.Glu599Asp) c.237G>T (p.Glu79Asp) c.228G>T (p.Glu76Asp) n.2466G>T | |
| 2 | g.15424456C>G | CA345890310 | NBAS | c.533G>C n.2449G>C c.1953G>C (p.Glu651Asp) c.2436G>C (p.Glu812Asp) n.2480G>C c.2307G>C (p.Glu769Asp) c.1797G>C (p.Glu599Asp) c.237G>C (p.Glu79Asp) c.228G>C (p.Glu76Asp) n.2466G>C | gnomAD v4 |
| 2 | g.15424456C>T | CA424870636 | NBAS | c.533G>A n.2449G>A c.1953G>A (p.Glu651=) c.2436G>A (p.Glu812=) n.2480G>A c.2307G>A (p.Glu769=) c.1797G>A (p.Glu599=) c.237G>A (p.Glu79=) c.228G>A (p.Glu76=) n.2466G>A | gnomAD v4 |
| 2 | g.15424457T>A | CA345890313 | NBAS | c.532A>T n.2448A>T c.1952A>T (p.Glu651Val) c.2435A>T (p.Glu812Val) n.2479A>T c.2306A>T (p.Glu769Val) c.1796A>T (p.Glu599Val) c.236A>T (p.Glu79Val) c.227A>T (p.Glu76Val) n.2465A>T | |
| 2 | g.15424457T>C | CA345890314 | NBAS | c.532A>G n.2448A>G c.1952A>G (p.Glu651Gly) c.2435A>G (p.Glu812Gly) n.2479A>G c.2306A>G (p.Glu769Gly) c.1796A>G (p.Glu599Gly) c.236A>G (p.Glu79Gly) c.227A>G (p.Glu76Gly) n.2465A>G | |
| 2 | g.15424457T>G | CA345890315 | NBAS | c.532A>C n.2448A>C c.1952A>C (p.Glu651Ala) c.2435A>C (p.Glu812Ala) n.2479A>C c.2306A>C (p.Glu769Ala) c.1796A>C (p.Glu599Ala) c.236A>C (p.Glu79Ala) c.227A>C (p.Glu76Ala) n.2465A>C | |
| 2 | g.15424458C>A | CA345890316 | NBAS | c.531G>T n.2447G>T c.1951G>T (p.Glu651Ter) c.2434G>T (p.Glu812Ter) n.2478G>T c.2305G>T (p.Glu769Ter) c.1795G>T (p.Glu599Ter) c.235G>T (p.Glu79Ter) c.226G>T (p.Glu76Ter) n.2464G>T | |
| 2 | g.15424458C>G | CA345890317 | NBAS | c.531G>C n.2447G>C c.1951G>C (p.Glu651Gln) c.2434G>C (p.Glu812Gln) n.2478G>C c.2305G>C (p.Glu769Gln) c.1795G>C (p.Glu599Gln) c.235G>C (p.Glu79Gln) c.226G>C (p.Glu76Gln) n.2464G>C | |
| 2 | g.15424458C>T | CA345890318 | NBAS | c.531G>A n.2447G>A c.1951G>A (p.Glu651Lys) c.2434G>A (p.Glu812Lys) n.2478G>A c.2305G>A (p.Glu769Lys) c.1795G>A (p.Glu599Lys) c.235G>A (p.Glu79Lys) c.226G>A (p.Glu76Lys) n.2464G>A | |
| 2 | g.15424459A>C | CA424870637 | NBAS | c.530T>G n.2446T>G c.1950T>G (p.Val650=) c.2433T>G (p.Val811=) n.2477T>G c.2304T>G (p.Val768=) c.1794T>G (p.Val598=) c.234T>G (p.Val78=) c.225T>G (p.Val75=) n.2463T>G | |
| 2 | g.15424459A>G | CA424870638 | NBAS | c.530T>C n.2446T>C c.1950T>C (p.Val650=) c.2433T>C (p.Val811=) n.2477T>C c.2304T>C (p.Val768=) c.1794T>C (p.Val598=) c.234T>C (p.Val78=) c.225T>C (p.Val75=) n.2463T>C | |
| 2 | g.15424459A>T | CA424870639 | NBAS | c.530T>A n.2446T>A c.1950T>A (p.Val650=) c.2433T>A (p.Val811=) n.2477T>A c.2304T>A (p.Val768=) c.1794T>A (p.Val598=) c.234T>A (p.Val78=) c.225T>A (p.Val75=) n.2463T>A | |
| 2 | g.15424460A>C | CA345890319 | NBAS | c.529T>G n.2445T>G c.1949T>G (p.Val650Gly) c.2432T>G (p.Val811Gly) n.2476T>G c.2303T>G (p.Val768Gly) c.1793T>G (p.Val598Gly) c.233T>G (p.Val78Gly) c.224T>G (p.Val75Gly) n.2462T>G | |
| 2 | g.15424460A>G | CA345890321 | NBAS | c.529T>C n.2445T>C c.1949T>C (p.Val650Ala) c.2432T>C (p.Val811Ala) n.2476T>C c.2303T>C (p.Val768Ala) c.1793T>C (p.Val598Ala) c.233T>C (p.Val78Ala) c.224T>C (p.Val75Ala) n.2462T>C | |
| 2 | g.15424460A>T | CA345890323 | NBAS | c.529T>A n.2445T>A c.1949T>A (p.Val650Asp) c.2432T>A (p.Val811Asp) n.2476T>A c.2303T>A (p.Val768Asp) c.1793T>A (p.Val598Asp) c.233T>A (p.Val78Asp) c.224T>A (p.Val75Asp) n.2462T>A | |
| 2 | g.15424461C>A | CA345890331 | NBAS | c.528G>T n.2444G>T c.1948G>T (p.Val650Phe) c.2431G>T (p.Val811Phe) n.2475G>T c.2302G>T (p.Val768Phe) c.1792G>T (p.Val598Phe) c.232G>T (p.Val78Phe) c.223G>T (p.Val75Phe) n.2461G>T | |
| 2 | g.15424461C>G | CA345890341 | NBAS | c.528G>C n.2444G>C c.1948G>C (p.Val650Leu) c.2431G>C (p.Val811Leu) n.2475G>C c.2302G>C (p.Val768Leu) c.1792G>C (p.Val598Leu) c.232G>C (p.Val78Leu) c.223G>C (p.Val75Leu) n.2461G>C | |
| 2 | g.15424461C>T | CA345890355 | NBAS | c.528G>A n.2444G>A c.1948G>A (p.Val650Ile) c.2431G>A (p.Val811Ile) n.2475G>A c.2302G>A (p.Val768Ile) c.1792G>A (p.Val598Ile) c.232G>A (p.Val78Ile) c.223G>A (p.Val75Ile) n.2461G>A | |
| 2 | g.15424462A= | CA2490889362 | NBAS | c.527T= n.2443T= c.1947T= (p.Val649=) c.2430T= (p.Val810=) n.2474T= c.2301T= (p.Val767=) c.1791T= (p.Val597=) c.231T= (p.Val77=) c.222T= (p.Val74=) n.2460T= | |
| 2 | g.15424462A>C | CA424870640 | NBAS | c.527T>G n.2443T>G c.1947T>G (p.Val649=) c.2430T>G (p.Val810=) n.2474T>G c.2301T>G (p.Val767=) c.1791T>G (p.Val597=) c.231T>G (p.Val77=) c.222T>G (p.Val74=) n.2460T>G | dbSNP |
| 2 | g.15424462A>G | CA424870641 | NBAS | c.527T>C n.2443T>C c.1947T>C (p.Val649=) c.2430T>C (p.Val810=) n.2474T>C c.2301T>C (p.Val767=) c.1791T>C (p.Val597=) c.231T>C (p.Val77=) c.222T>C (p.Val74=) n.2460T>C | |
| 2 | g.15424462A>T | CA424870642 | NBAS | c.527T>A n.2443T>A c.1947T>A (p.Val649=) c.2430T>A (p.Val810=) n.2474T>A c.2301T>A (p.Val767=) c.1791T>A (p.Val597=) c.231T>A (p.Val77=) c.222T>A (p.Val74=) n.2460T>A | |
| 2 | g.15424463A>C | CA345890365 | NBAS | c.526T>G n.2442T>G c.1946T>G (p.Val649Gly) c.2429T>G (p.Val810Gly) n.2473T>G c.2300T>G (p.Val767Gly) c.1790T>G (p.Val597Gly) c.230T>G (p.Val77Gly) c.221T>G (p.Val74Gly) n.2459T>G | |
| 2 | g.15424463A>G | CA345890368 | NBAS | c.526T>C n.2442T>C c.1946T>C (p.Val649Ala) c.2429T>C (p.Val810Ala) n.2473T>C c.2300T>C (p.Val767Ala) c.1790T>C (p.Val597Ala) c.230T>C (p.Val77Ala) c.221T>C (p.Val74Ala) n.2459T>C | |
| 2 | g.15424463A>T | CA345890359 | NBAS | c.526T>A n.2442T>A c.1946T>A (p.Val649Asp) c.2429T>A (p.Val810Asp) n.2473T>A c.2300T>A (p.Val767Asp) c.1790T>A (p.Val597Asp) c.230T>A (p.Val77Asp) c.221T>A (p.Val74Asp) n.2459T>A | |
| 2 | g.15424464C>A | CA345890371 | NBAS | c.525G>T n.2441G>T c.1945G>T (p.Val649Phe) c.2428G>T (p.Val810Phe) n.2472G>T c.2299G>T (p.Val767Phe) c.1789G>T (p.Val597Phe) c.229G>T (p.Val77Phe) c.220G>T (p.Val74Phe) n.2458G>T | |
| 2 | g.15424464C>G | CA345890369 | NBAS | c.525G>C n.2441G>C c.1945G>C (p.Val649Leu) c.2428G>C (p.Val810Leu) n.2472G>C c.2299G>C (p.Val767Leu) c.1789G>C (p.Val597Leu) c.229G>C (p.Val77Leu) c.220G>C (p.Val74Leu) n.2458G>C | |
| 2 | g.15424464C>T | CA345890370 | NBAS | c.525G>A n.2441G>A c.1945G>A (p.Val649Ile) c.2428G>A (p.Val810Ile) n.2472G>A c.2299G>A (p.Val767Ile) c.1789G>A (p.Val597Ile) c.229G>A (p.Val77Ile) c.220G>A (p.Val74Ile) n.2458G>A | COSMIC |
| 2 | g.15424465C>A | CA345890372 | NBAS | c.524G>T n.2440G>T c.1944G>T (p.Met648Ile) c.2427G>T (p.Met809Ile) n.2471G>T c.2298G>T (p.Met766Ile) c.1788G>T (p.Met596Ile) c.228G>T (p.Met76Ile) c.219G>T (p.Met73Ile) n.2457G>T | |
| 2 | g.15424465C>G | CA345890373 | NBAS | c.524G>C n.2440G>C c.1944G>C (p.Met648Ile) c.2427G>C (p.Met809Ile) n.2471G>C c.2298G>C (p.Met766Ile) c.1788G>C (p.Met596Ile) c.228G>C (p.Met76Ile) c.219G>C (p.Met73Ile) n.2457G>C | |
| 2 | g.15424465C>T | CA345890375 | NBAS | c.524G>A n.2440G>A c.1944G>A (p.Met648Ile) c.2427G>A (p.Met809Ile) n.2471G>A c.2298G>A (p.Met766Ile) c.1788G>A (p.Met596Ile) c.228G>A (p.Met76Ile) c.219G>A (p.Met73Ile) n.2457G>A | |
| 2 | g.15424466A= | CA2490889363 | NBAS | c.523T= n.2439T= c.1943T= (p.Met648=) c.2426T= (p.Met809=) n.2470T= c.2297T= (p.Met766=) c.1787T= (p.Met596=) c.227T= (p.Met76=) c.218T= (p.Met73=) n.2456T= | |
| 2 | g.15424466A>C | CA345890380 | NBAS | c.523T>G n.2439T>G c.1943T>G (p.Met648Arg) c.2426T>G (p.Met809Arg) n.2470T>G c.2297T>G (p.Met766Arg) c.1787T>G (p.Met596Arg) c.227T>G (p.Met76Arg) c.218T>G (p.Met73Arg) n.2456T>G | |
| 2 | g.15424466A>G | CA345890381 | NBAS | c.523T>C n.2439T>C c.1943T>C (p.Met648Thr) c.2426T>C (p.Met809Thr) n.2470T>C c.2297T>C (p.Met766Thr) c.1787T>C (p.Met596Thr) c.227T>C (p.Met76Thr) c.218T>C (p.Met73Thr) n.2456T>C | gnomAD v4 |
| 2 | g.15424466A>T | CA345890384 | NBAS | c.523T>A n.2439T>A c.1943T>A (p.Met648Lys) c.2426T>A (p.Met809Lys) n.2470T>A c.2297T>A (p.Met766Lys) c.1787T>A (p.Met596Lys) c.227T>A (p.Met76Lys) c.218T>A (p.Met73Lys) n.2456T>A | dbSNP gnomAD v4 |
| 2 | g.15424467T>A | CA345890390 | NBAS | c.522A>T n.2438A>T c.1942A>T (p.Met648Leu) c.2425A>T (p.Met809Leu) n.2469A>T c.2296A>T (p.Met766Leu) c.1786A>T (p.Met596Leu) c.226A>T (p.Met76Leu) c.217A>T (p.Met73Leu) n.2455A>T | |
| 2 | g.15424467T>C | CA345890394 | NBAS | c.522A>G n.2438A>G c.1942A>G (p.Met648Val) c.2425A>G (p.Met809Val) n.2469A>G c.2296A>G (p.Met766Val) c.1786A>G (p.Met596Val) c.226A>G (p.Met76Val) c.217A>G (p.Met73Val) n.2455A>G | gnomAD v4 |
| 2 | g.15424467T>G | CA345890395 | NBAS | c.522A>C n.2438A>C c.1942A>C (p.Met648Leu) c.2425A>C (p.Met809Leu) n.2469A>C c.2296A>C (p.Met766Leu) c.1786A>C (p.Met596Leu) c.226A>C (p.Met76Leu) c.217A>C (p.Met73Leu) n.2455A>C | |
| 2 | g.15424468T>A | CA345890397 | NBAS | c.521A>T n.2437A>T c.1941A>T (p.Arg647Ser) c.2424A>T (p.Arg808Ser) n.2468A>T c.2295A>T (p.Arg765Ser) c.1785A>T (p.Arg595Ser) c.225A>T (p.Arg75Ser) c.216A>T (p.Arg72Ser) n.2454A>T | |
| 2 | g.15424468T>C | CA424870643 | NBAS | c.521A>G n.2437A>G c.1941A>G (p.Arg647=) c.2424A>G (p.Arg808=) n.2468A>G c.2295A>G (p.Arg765=) c.1785A>G (p.Arg595=) c.225A>G (p.Arg75=) c.216A>G (p.Arg72=) n.2454A>G | gnomAD v4 |
| 2 | g.15424468T>G | CA345890405 | NBAS | c.521A>C n.2437A>C c.1941A>C (p.Arg647Ser) c.2424A>C (p.Arg808Ser) n.2468A>C c.2295A>C (p.Arg765Ser) c.1785A>C (p.Arg595Ser) c.225A>C (p.Arg75Ser) c.216A>C (p.Arg72Ser) n.2454A>C |