| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.15218792G>A | CA345883776 | NBAS | c.4399C>T c.4426+13630C>T c.924C>T c.2269C>T c.6413C>T (p.Ala2138Val) c.512+13630C>T (n.512+13630C>T) c.3556C>T n.6280+13630C>T c.6284C>T (p.Ala2095Val) c.5774C>T (p.Ala1925Val) c.4214C>T (p.Ala1405Val) c.4205C>T (p.Ala1402Val) n.6266+13630C>T | |
| 2 | g.15218792G>C | CA345883777 | NBAS | c.4399C>G c.4426+13630C>G c.924C>G c.2269C>G c.6413C>G (p.Ala2138Gly) c.512+13630C>G (n.512+13630C>G) c.3556C>G n.6280+13630C>G c.6284C>G (p.Ala2095Gly) c.5774C>G (p.Ala1925Gly) c.4214C>G (p.Ala1405Gly) c.4205C>G (p.Ala1402Gly) n.6266+13630C>G | |
| 2 | g.15218792G>T | CA345883778 | NBAS | c.4399C>A c.4426+13630C>A c.924C>A c.2269C>A c.6413C>A (p.Ala2138Asp) c.512+13630C>A (n.512+13630C>A) c.3556C>A n.6280+13630C>A c.6284C>A (p.Ala2095Asp) c.5774C>A (p.Ala1925Asp) c.4214C>A (p.Ala1405Asp) c.4205C>A (p.Ala1402Asp) n.6266+13630C>A | gnomAD v4 COSMIC |
| 2 | g.15218793C>A | CA345883779 | NBAS | c.4398G>T c.4426+13629G>T c.923G>T c.2268G>T c.6412G>T (p.Ala2138Ser) c.512+13629G>T (n.512+13629G>T) c.3555G>T n.6280+13629G>T c.6283G>T (p.Ala2095Ser) c.5773G>T (p.Ala1925Ser) c.4213G>T (p.Ala1405Ser) c.4204G>T (p.Ala1402Ser) n.6266+13629G>T | |
| 2 | g.15218793C>G | CA345883780 | NBAS | c.4398G>C c.4426+13629G>C c.923G>C c.2268G>C c.6412G>C (p.Ala2138Pro) c.512+13629G>C (n.512+13629G>C) c.3555G>C n.6280+13629G>C c.6283G>C (p.Ala2095Pro) c.5773G>C (p.Ala1925Pro) c.4213G>C (p.Ala1405Pro) c.4204G>C (p.Ala1402Pro) n.6266+13629G>C | |
| 2 | g.15218793C>T | CA345883781 | NBAS | c.4398G>A c.4426+13629G>A c.923G>A c.2268G>A c.6412G>A (p.Ala2138Thr) c.512+13629G>A (n.512+13629G>A) c.3555G>A n.6280+13629G>A c.6283G>A (p.Ala2095Thr) c.5773G>A (p.Ala1925Thr) c.4213G>A (p.Ala1405Thr) c.4204G>A (p.Ala1402Thr) n.6266+13629G>A | |
| 2 | g.15218794T>A | CA345883782 | NBAS | c.4397A>T c.4426+13628A>T c.922A>T c.2267A>T c.6411A>T (p.Lys2137Asn) c.512+13628A>T (n.512+13628A>T) c.3554A>T n.6280+13628A>T c.6282A>T (p.Lys2094Asn) c.5772A>T (p.Lys1924Asn) c.4212A>T (p.Lys1404Asn) c.4203A>T (p.Lys1401Asn) n.6266+13628A>T | |
| 2 | g.15218794T>C | CA424866908 | NBAS | c.4397A>G c.4426+13628A>G c.922A>G c.2267A>G c.6411A>G (p.Lys2137=) c.512+13628A>G (n.512+13628A>G) c.3554A>G n.6280+13628A>G c.6282A>G (p.Lys2094=) c.5772A>G (p.Lys1924=) c.4212A>G (p.Lys1404=) c.4203A>G (p.Lys1401=) n.6266+13628A>G | |
| 2 | g.15218794T>G | CA345883783 | NBAS | c.4397A>C c.4426+13628A>C c.922A>C c.2267A>C c.6411A>C (p.Lys2137Asn) c.512+13628A>C (n.512+13628A>C) c.3554A>C n.6280+13628A>C c.6282A>C (p.Lys2094Asn) c.5772A>C (p.Lys1924Asn) c.4212A>C (p.Lys1404Asn) c.4203A>C (p.Lys1401Asn) n.6266+13628A>C | |
| 2 | g.15218795T>A | CA345883794 | NBAS | c.4396A>T c.4426+13627A>T c.921A>T c.2266A>T c.6410A>T (p.Lys2137Ile) c.512+13627A>T (n.512+13627A>T) c.3553A>T n.6280+13627A>T c.6281A>T (p.Lys2094Ile) c.5771A>T (p.Lys1924Ile) c.4211A>T (p.Lys1404Ile) c.4202A>T (p.Lys1401Ile) n.6266+13627A>T | |
| 2 | g.15218795T>C | CA345883796 | NBAS | c.4396A>G c.4426+13627A>G c.921A>G c.2266A>G c.6410A>G (p.Lys2137Arg) c.512+13627A>G (n.512+13627A>G) c.3553A>G n.6280+13627A>G c.6281A>G (p.Lys2094Arg) c.5771A>G (p.Lys1924Arg) c.4211A>G (p.Lys1404Arg) c.4202A>G (p.Lys1401Arg) n.6266+13627A>G | |
| 2 | g.15218795T>G | CA345883791 | NBAS | c.4396A>C c.4426+13627A>C c.921A>C c.2266A>C c.6410A>C (p.Lys2137Thr) c.512+13627A>C (n.512+13627A>C) c.3553A>C n.6280+13627A>C c.6281A>C (p.Lys2094Thr) c.5771A>C (p.Lys1924Thr) c.4211A>C (p.Lys1404Thr) c.4202A>C (p.Lys1401Thr) n.6266+13627A>C | |
| 2 | g.15218796T>A | CA345883799 | NBAS | c.4395A>T c.4426+13626A>T c.920A>T c.2265A>T c.6409A>T (p.Lys2137Ter) c.512+13626A>T (n.512+13626A>T) c.3552A>T n.6280+13626A>T c.6280A>T (p.Lys2094Ter) c.5770A>T (p.Lys1924Ter) c.4210A>T (p.Lys1404Ter) c.4201A>T (p.Lys1401Ter) n.6266+13626A>T | |
| 2 | g.15218796T>C | CA345883800 | NBAS | c.4395A>G c.4426+13626A>G c.920A>G c.2265A>G c.6409A>G (p.Lys2137Glu) c.512+13626A>G (n.512+13626A>G) c.3552A>G n.6280+13626A>G c.6280A>G (p.Lys2094Glu) c.5770A>G (p.Lys1924Glu) c.4210A>G (p.Lys1404Glu) c.4201A>G (p.Lys1401Glu) n.6266+13626A>G | |
| 2 | g.15218796T>G | CA345883801 | NBAS | c.4395A>C c.4426+13626A>C c.920A>C c.2265A>C c.6409A>C (p.Lys2137Gln) c.512+13626A>C (n.512+13626A>C) c.3552A>C n.6280+13626A>C c.6280A>C (p.Lys2094Gln) c.5770A>C (p.Lys1924Gln) c.4210A>C (p.Lys1404Gln) c.4201A>C (p.Lys1401Gln) n.6266+13626A>C | |
| 2 | g.15218797G>A | CA424866909 | NBAS | c.4394C>T c.4426+13625C>T c.919C>T c.2264C>T c.6408C>T (p.Leu2136=) c.512+13625C>T (n.512+13625C>T) c.3551C>T n.6280+13625C>T c.6279C>T (p.Leu2093=) c.5769C>T (p.Leu1923=) c.4209C>T (p.Leu1403=) c.4200C>T (p.Leu1400=) n.6266+13625C>T | gnomAD v4 |
| 2 | g.15218797G>C | CA424866910 | NBAS | c.4394C>G c.4426+13625C>G c.919C>G c.2264C>G c.6408C>G (p.Leu2136=) c.512+13625C>G (n.512+13625C>G) c.3551C>G n.6280+13625C>G c.6279C>G (p.Leu2093=) c.5769C>G (p.Leu1923=) c.4209C>G (p.Leu1403=) c.4200C>G (p.Leu1400=) n.6266+13625C>G | |
| 2 | g.15218797G>T | CA424866911 | NBAS | c.4394C>A c.4426+13625C>A c.919C>A c.2264C>A c.6408C>A (p.Leu2136=) c.512+13625C>A (n.512+13625C>A) c.3551C>A n.6280+13625C>A c.6279C>A (p.Leu2093=) c.5769C>A (p.Leu1923=) c.4209C>A (p.Leu1403=) c.4200C>A (p.Leu1400=) n.6266+13625C>A | |
| 2 | g.15218798A>C | CA345883802 | NBAS | c.4393T>G c.4426+13624T>G c.918T>G c.2263T>G c.6407T>G (p.Leu2136Arg) c.512+13624T>G (n.512+13624T>G) c.3550T>G n.6280+13624T>G c.6278T>G (p.Leu2093Arg) c.5768T>G (p.Leu1923Arg) c.4208T>G (p.Leu1403Arg) c.4199T>G (p.Leu1400Arg) n.6266+13624T>G | |
| 2 | g.15218798A>G | CA345883803 | NBAS | c.4393T>C c.4426+13624T>C c.918T>C c.2263T>C c.6407T>C (p.Leu2136Pro) c.512+13624T>C (n.512+13624T>C) c.3550T>C n.6280+13624T>C c.6278T>C (p.Leu2093Pro) c.5768T>C (p.Leu1923Pro) c.4208T>C (p.Leu1403Pro) c.4199T>C (p.Leu1400Pro) n.6266+13624T>C | |
| 2 | g.15218798A>T | CA345883804 | NBAS | c.4393T>A c.4426+13624T>A c.918T>A c.2263T>A c.6407T>A (p.Leu2136His) c.512+13624T>A (n.512+13624T>A) c.3550T>A n.6280+13624T>A c.6278T>A (p.Leu2093His) c.5768T>A (p.Leu1923His) c.4208T>A (p.Leu1403His) c.4199T>A (p.Leu1400His) n.6266+13624T>A | |
| 2 | g.15218799G>A | CA345883805 | NBAS | c.4392C>T c.4426+13623C>T c.917C>T c.2262C>T c.6406C>T (p.Leu2136Phe) c.512+13623C>T (n.512+13623C>T) c.3549C>T n.6280+13623C>T c.6277C>T (p.Leu2093Phe) c.5767C>T (p.Leu1923Phe) c.4207C>T (p.Leu1403Phe) c.4198C>T (p.Leu1400Phe) n.6266+13623C>T | |
| 2 | g.15218799G>C | CA345883807 | NBAS | c.4392C>G c.4426+13623C>G c.917C>G c.2262C>G c.6406C>G (p.Leu2136Val) c.512+13623C>G (n.512+13623C>G) c.3549C>G n.6280+13623C>G c.6277C>G (p.Leu2093Val) c.5767C>G (p.Leu1923Val) c.4207C>G (p.Leu1403Val) c.4198C>G (p.Leu1400Val) n.6266+13623C>G | gnomAD v4 |
| 2 | g.15218799G>T | CA345883806 | NBAS | c.4392C>A c.4426+13623C>A c.917C>A c.2262C>A c.6406C>A (p.Leu2136Ile) c.512+13623C>A (n.512+13623C>A) c.3549C>A n.6280+13623C>A c.6277C>A (p.Leu2093Ile) c.5767C>A (p.Leu1923Ile) c.4207C>A (p.Leu1403Ile) c.4198C>A (p.Leu1400Ile) n.6266+13623C>A | |
| 2 | g.15218800A>C | CA345883810 | NBAS | c.4391T>G c.4426+13622T>G c.916T>G c.2261T>G c.6405T>G (p.Ile2135Met) c.512+13622T>G (n.512+13622T>G) c.3548T>G n.6280+13622T>G c.6276T>G (p.Ile2092Met) c.5766T>G (p.Ile1922Met) c.4206T>G (p.Ile1402Met) c.4197T>G (p.Ile1399Met) n.6266+13622T>G | |
| 2 | g.15218800A>G | CA424866913 | NBAS | c.4391T>C c.4426+13622T>C c.916T>C c.2261T>C c.6405T>C (p.Ile2135=) c.512+13622T>C (n.512+13622T>C) c.3548T>C n.6280+13622T>C c.6276T>C (p.Ile2092=) c.5766T>C (p.Ile1922=) c.4206T>C (p.Ile1402=) c.4197T>C (p.Ile1399=) n.6266+13622T>C | |
| 2 | g.15218800A>T | CA424866912 | NBAS | c.4391T>A c.4426+13622T>A c.916T>A c.2261T>A c.6405T>A (p.Ile2135=) c.512+13622T>A (n.512+13622T>A) c.3548T>A n.6280+13622T>A c.6276T>A (p.Ile2092=) c.5766T>A (p.Ile1922=) c.4206T>A (p.Ile1402=) c.4197T>A (p.Ile1399=) n.6266+13622T>A | |
| 2 | g.15218801A>C | CA345883813 | NBAS | c.4390T>G c.4426+13621T>G c.915T>G c.2260T>G c.6404T>G (p.Ile2135Ser) c.512+13621T>G (n.512+13621T>G) c.3547T>G n.6280+13621T>G c.6275T>G (p.Ile2092Ser) c.5765T>G (p.Ile1922Ser) c.4205T>G (p.Ile1402Ser) c.4196T>G (p.Ile1399Ser) n.6266+13621T>G | |
| 2 | g.15218801A>G | CA345883817 | NBAS | c.4390T>C c.4426+13621T>C c.915T>C c.2260T>C c.6404T>C (p.Ile2135Thr) c.512+13621T>C (n.512+13621T>C) c.3547T>C n.6280+13621T>C c.6275T>C (p.Ile2092Thr) c.5765T>C (p.Ile1922Thr) c.4205T>C (p.Ile1402Thr) c.4196T>C (p.Ile1399Thr) n.6266+13621T>C | |
| 2 | g.15218801A>T | CA345883823 | NBAS | c.4390T>A c.4426+13621T>A c.915T>A c.2260T>A c.6404T>A (p.Ile2135Asn) c.512+13621T>A (n.512+13621T>A) c.3547T>A n.6280+13621T>A c.6275T>A (p.Ile2092Asn) c.5765T>A (p.Ile1922Asn) c.4205T>A (p.Ile1402Asn) c.4196T>A (p.Ile1399Asn) n.6266+13621T>A | |
| 2 | g.15218802T>A | CA345883828 | NBAS | c.4389A>T c.4426+13620A>T c.914A>T c.2259A>T c.6403A>T (p.Ile2135Phe) c.512+13620A>T (n.512+13620A>T) c.3546A>T n.6280+13620A>T c.6274A>T (p.Ile2092Phe) c.5764A>T (p.Ile1922Phe) c.4204A>T (p.Ile1402Phe) c.4195A>T (p.Ile1399Phe) n.6266+13620A>T | dbSNP gnomAD v2 |
| 2 | g.15218802T>C | CA345883836 | NBAS | c.4389A>G c.4426+13620A>G c.914A>G c.2259A>G c.6403A>G (p.Ile2135Val) c.512+13620A>G (n.512+13620A>G) c.3546A>G n.6280+13620A>G c.6274A>G (p.Ile2092Val) c.5764A>G (p.Ile1922Val) c.4204A>G (p.Ile1402Val) c.4195A>G (p.Ile1399Val) n.6266+13620A>G | dbSNP |
| 2 | g.15218802T>G | CA345883835 | NBAS | c.4389A>C c.4426+13620A>C c.914A>C c.2259A>C c.6403A>C (p.Ile2135Leu) c.512+13620A>C (n.512+13620A>C) c.3546A>C n.6280+13620A>C c.6274A>C (p.Ile2092Leu) c.5764A>C (p.Ile1922Leu) c.4204A>C (p.Ile1402Leu) c.4195A>C (p.Ile1399Leu) n.6266+13620A>C | |
| 2 | g.15218802T= | CA2490796181 | NBAS | c.4389A= c.4426+13620A= c.914A= c.2259A= c.6403A= (p.Ile2135=) c.512+13620A= (n.512+13620A=) c.3546A= n.6280+13620A= c.6274A= (p.Ile2092=) c.5764A= (p.Ile1922=) c.4204A= (p.Ile1402=) c.4195A= (p.Ile1399=) n.6266+13620A= | |
| 2 | g.15218803G>A | CA424866914 | NBAS | c.4388C>T c.4426+13619C>T c.913C>T c.2258C>T c.6402C>T (p.Ala2134=) c.512+13619C>T (n.512+13619C>T) c.3545C>T n.6280+13619C>T c.6273C>T (p.Ala2091=) c.5763C>T (p.Ala1921=) c.4203C>T (p.Ala1401=) c.4194C>T (p.Ala1398=) n.6266+13619C>T | |
| 2 | g.15218803G>C | CA424866915 | NBAS | c.4388C>G c.4426+13619C>G c.913C>G c.2258C>G c.6402C>G (p.Ala2134=) c.512+13619C>G (n.512+13619C>G) c.3545C>G n.6280+13619C>G c.6273C>G (p.Ala2091=) c.5763C>G (p.Ala1921=) c.4203C>G (p.Ala1401=) c.4194C>G (p.Ala1398=) n.6266+13619C>G | |
| 2 | g.15218803G>T | CA424866916 | NBAS | c.4388C>A c.4426+13619C>A c.913C>A c.2258C>A c.6402C>A (p.Ala2134=) c.512+13619C>A (n.512+13619C>A) c.3545C>A n.6280+13619C>A c.6273C>A (p.Ala2091=) c.5763C>A (p.Ala1921=) c.4203C>A (p.Ala1401=) c.4194C>A (p.Ala1398=) n.6266+13619C>A | |
| 2 | g.15218804G>A | CA345883838 | NBAS | c.4387C>T c.4426+13618C>T c.912C>T c.2257C>T c.6401C>T (p.Ala2134Val) c.512+13618C>T (n.512+13618C>T) c.3544C>T n.6280+13618C>T c.6272C>T (p.Ala2091Val) c.5762C>T (p.Ala1921Val) c.4202C>T (p.Ala1401Val) c.4193C>T (p.Ala1398Val) n.6266+13618C>T | COSMIC |
| 2 | g.15218804G>C | CA345883839 | NBAS | c.4387C>G c.4426+13618C>G c.912C>G c.2257C>G c.6401C>G (p.Ala2134Gly) c.512+13618C>G (n.512+13618C>G) c.3544C>G n.6280+13618C>G c.6272C>G (p.Ala2091Gly) c.5762C>G (p.Ala1921Gly) c.4202C>G (p.Ala1401Gly) c.4193C>G (p.Ala1398Gly) n.6266+13618C>G | |
| 2 | g.15218804G>T | CA345883840 | NBAS | c.4387C>A c.4426+13618C>A c.912C>A c.2257C>A c.6401C>A (p.Ala2134Asp) c.512+13618C>A (n.512+13618C>A) c.3544C>A n.6280+13618C>A c.6272C>A (p.Ala2091Asp) c.5762C>A (p.Ala1921Asp) c.4202C>A (p.Ala1401Asp) c.4193C>A (p.Ala1398Asp) n.6266+13618C>A | |
| 2 | g.15218805C>A | CA345883841 | NBAS | c.4386G>T c.4426+13617G>T c.911G>T c.2256G>T c.6400G>T (p.Ala2134Ser) c.512+13617G>T (n.512+13617G>T) c.3543G>T n.6280+13617G>T c.6271G>T (p.Ala2091Ser) c.5761G>T (p.Ala1921Ser) c.4201G>T (p.Ala1401Ser) c.4192G>T (p.Ala1398Ser) n.6266+13617G>T | |
| 2 | g.15218805C= | CA2490796182 | NBAS | c.4386G= c.4426+13617G= c.911G= c.2256G= c.6400G= (p.Ala2134=) c.512+13617G= (n.512+13617G=) c.3543G= n.6280+13617G= c.6271G= (p.Ala2091=) c.5761G= (p.Ala1921=) c.4201G= (p.Ala1401=) c.4192G= (p.Ala1398=) n.6266+13617G= | |
| 2 | g.15218805C>G | CA345883842 | NBAS | c.4386G>C c.4426+13617G>C c.911G>C c.2256G>C c.6400G>C (p.Ala2134Pro) c.512+13617G>C (n.512+13617G>C) c.3543G>C n.6280+13617G>C c.6271G>C (p.Ala2091Pro) c.5761G>C (p.Ala1921Pro) c.4201G>C (p.Ala1401Pro) c.4192G>C (p.Ala1398Pro) n.6266+13617G>C | |
| 2 | g.15218805C>T | CA345883843 | NBAS | c.4386G>A c.4426+13617G>A c.911G>A c.2256G>A c.6400G>A (p.Ala2134Thr) c.512+13617G>A (n.512+13617G>A) c.3543G>A n.6280+13617G>A c.6271G>A (p.Ala2091Thr) c.5761G>A (p.Ala1921Thr) c.4201G>A (p.Ala1401Thr) c.4192G>A (p.Ala1398Thr) n.6266+13617G>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15218806T>A | CA345883844 | NBAS | c.4385A>T c.4426+13616A>T c.910A>T c.2255A>T c.6399A>T (p.Glu2133Asp) c.512+13616A>T (n.512+13616A>T) c.3542A>T n.6280+13616A>T c.6270A>T (p.Glu2090Asp) c.5760A>T (p.Glu1920Asp) c.4200A>T (p.Glu1400Asp) c.4191A>T (p.Glu1397Asp) n.6266+13616A>T | |
| 2 | g.15218806T>C | CA424866917 | NBAS | c.4385A>G c.4426+13616A>G c.910A>G c.2255A>G c.6399A>G (p.Glu2133=) c.512+13616A>G (n.512+13616A>G) c.3542A>G n.6280+13616A>G c.6270A>G (p.Glu2090=) c.5760A>G (p.Glu1920=) c.4200A>G (p.Glu1400=) c.4191A>G (p.Glu1397=) n.6266+13616A>G | |
| 2 | g.15218806T>G | CA345883845 | NBAS | c.4385A>C c.4426+13616A>C c.910A>C c.2255A>C c.6399A>C (p.Glu2133Asp) c.512+13616A>C (n.512+13616A>C) c.3542A>C n.6280+13616A>C c.6270A>C (p.Glu2090Asp) c.5760A>C (p.Glu1920Asp) c.4200A>C (p.Glu1400Asp) c.4191A>C (p.Glu1397Asp) n.6266+13616A>C | |
| 2 | g.15218807T>A | CA345883848 | NBAS | c.4384A>T c.4426+13615A>T c.909A>T c.2254A>T c.6398A>T (p.Glu2133Val) c.512+13615A>T (n.512+13615A>T) c.3541A>T n.6280+13615A>T c.6269A>T (p.Glu2090Val) c.5759A>T (p.Glu1920Val) c.4199A>T (p.Glu1400Val) c.4190A>T (p.Glu1397Val) n.6266+13615A>T | |
| 2 | g.15218807T>C | CA345883859 | NBAS | c.4384A>G c.4426+13615A>G c.909A>G c.2254A>G c.6398A>G (p.Glu2133Gly) c.512+13615A>G (n.512+13615A>G) c.3541A>G n.6280+13615A>G c.6269A>G (p.Glu2090Gly) c.5759A>G (p.Glu1920Gly) c.4199A>G (p.Glu1400Gly) c.4190A>G (p.Glu1397Gly) n.6266+13615A>G | |
| 2 | g.15218807T>G | CA42584312 | NBAS | c.4384A>C c.4426+13615A>C c.909A>C c.2254A>C c.6398A>C (p.Glu2133Ala) c.512+13615A>C (n.512+13615A>C) c.3541A>C n.6280+13615A>C c.6269A>C (p.Glu2090Ala) c.5759A>C (p.Glu1920Ala) c.4199A>C (p.Glu1400Ala) c.4190A>C (p.Glu1397Ala) n.6266+13615A>C | dbSNP |