| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.15218886_15218898dup | CA2657930725 | NBAS | c.4293_4305dup c.4426+13524_4426+13536dup c.818_830dup c.2163_2175dup c.6307_6319dup (p.Ile2107SerfsTer19) c.512+13524_512+13536dup (n.512+13524_512+13536dup) c.3450_3462dup n.6280+13524_6280+13536dup c.6178_6190dup (p.Ile2064SerfsTer19) c.5668_5680dup (p.Ile1894SerfsTer19) c.4108_4120dup (p.Ile1374SerfsTer19) c.4099_4111dup (p.Ile1371SerfsTer19) n.6266+13524_6266+13536dup | gnomAD v4 |
| 2 | g.15218887_15218901del | CA2657930726 | NBAS | c.4290_4304del c.4426+13521_4426+13535del c.815_829del c.2160_2174del c.6304_6318del (p.Pro2102_Arg2106del) c.512+13521_512+13535del (n.512+13521_512+13535del) c.3447_3461del n.6280+13521_6280+13535del c.6175_6189del (p.Pro2059_Arg2063del) c.5665_5679del (p.Pro1889_Arg1893del) c.4105_4119del (p.Pro1369_Arg1373del) c.4096_4110del (p.Pro1366_Arg1370del) n.6266+13521_6266+13535del | gnomAD v4 |
| 2 | g.15218892del | CA16617250 | NBAS | c.4302del c.4426+13533del c.827del c.2172del c.6316del (p.Arg2106AlafsTer14) c.512+13533del (n.512+13533del) c.3459del n.6280+13533del c.6187del (p.Arg2063AlafsTer14) c.5677del (p.Arg1893AlafsTer14) c.4117del (p.Arg1373AlafsTer14) c.4108del (p.Arg1370AlafsTer14) n.6266+13533del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15218892G>A | CA345884724 | NBAS | c.4299C>T c.4426+13530C>T c.824C>T c.2169C>T c.6313C>T (p.Pro2105Ser) c.512+13530C>T (n.512+13530C>T) c.3456C>T n.6280+13530C>T c.6184C>T (p.Pro2062Ser) c.5674C>T (p.Pro1892Ser) c.4114C>T (p.Pro1372Ser) c.4105C>T (p.Pro1369Ser) n.6266+13530C>T | |
| 2 | g.15218892G>C | CA345884726 | NBAS | c.4299C>G c.4426+13530C>G c.824C>G c.2169C>G c.6313C>G (p.Pro2105Ala) c.512+13530C>G (n.512+13530C>G) c.3456C>G n.6280+13530C>G c.6184C>G (p.Pro2062Ala) c.5674C>G (p.Pro1892Ala) c.4114C>G (p.Pro1372Ala) c.4105C>G (p.Pro1369Ala) n.6266+13530C>G | gnomAD v4 |
| 2 | g.15218892G= | CA2490796231 | NBAS | c.4299C= c.4426+13530C= c.824C= c.2169C= c.6313C= (p.Pro2105=) c.512+13530C= (n.512+13530C=) c.3456C= n.6280+13530C= c.6184C= (p.Pro2062=) c.5674C= (p.Pro1892=) c.4114C= (p.Pro1372=) c.4105C= (p.Pro1369=) n.6266+13530C= | |
| 2 | g.15218892G>T | CA345884725 | NBAS | c.4299C>A c.4426+13530C>A c.824C>A c.2169C>A c.6313C>A (p.Pro2105Thr) c.512+13530C>A (n.512+13530C>A) c.3456C>A n.6280+13530C>A c.6184C>A (p.Pro2062Thr) c.5674C>A (p.Pro1892Thr) c.4114C>A (p.Pro1372Thr) c.4105C>A (p.Pro1369Thr) n.6266+13530C>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15218892_15218893delinsGC | CA2490796232 | NBAS | c.4298_4299delinsGC c.4426+13529_4426+13530delinsGC c.823_824delinsGC c.2168_2169delinsGC c.6312_6313delinsGC (p.Arg2104=) c.512+13529_512+13530delinsGC (n.512+13529_512+13530delinsGC) c.3455_3456delinsGC n.6280+13529_6280+13530delinsGC c.6183_6184delinsGC (p.Arg2061=) c.5673_5674delinsGC (p.Arg1891=) c.4113_4114delinsGC (p.Arg1371=) c.4104_4105delinsGC (p.Arg1368=) n.6266+13529_6266+13530delinsGC | |
| 2 | g.15218893C>A | CA424866965 | NBAS | c.4298G>T c.4426+13529G>T c.823G>T c.2168G>T c.6312G>T (p.Arg2104=) c.512+13529G>T (n.512+13529G>T) c.3455G>T n.6280+13529G>T c.6183G>T (p.Arg2061=) c.5673G>T (p.Arg1891=) c.4113G>T (p.Arg1371=) c.4104G>T (p.Arg1368=) n.6266+13529G>T | |
| 2 | g.15218893C>G | CA424866966 | NBAS | c.4298G>C c.4426+13529G>C c.823G>C c.2168G>C c.6312G>C (p.Arg2104=) c.512+13529G>C (n.512+13529G>C) c.3455G>C n.6280+13529G>C c.6183G>C (p.Arg2061=) c.5673G>C (p.Arg1891=) c.4113G>C (p.Arg1371=) c.4104G>C (p.Arg1368=) n.6266+13529G>C | |
| 2 | g.15218893C>T | CA424866967 | NBAS | c.4298G>A c.4426+13529G>A c.823G>A c.2168G>A c.6312G>A (p.Arg2104=) c.512+13529G>A (n.512+13529G>A) c.3455G>A n.6280+13529G>A c.6183G>A (p.Arg2061=) c.5673G>A (p.Arg1891=) c.4113G>A (p.Arg1371=) c.4104G>A (p.Arg1368=) n.6266+13529G>A | gnomAD v4 |
| 2 | g.15218894del | CA758915134 | NBAS | c.4298del c.4426+13529del c.823del c.2168del c.6312del (p.Arg2106AlafsTer14) c.512+13529del (n.512+13529del) c.3455del n.6280+13529del c.6183del (p.Arg2063AlafsTer14) c.5673del (p.Arg1893AlafsTer14) c.4113del (p.Arg1373AlafsTer14) c.4104del (p.Arg1370AlafsTer14) n.6266+13529del | ClinVar dbSNP gnomAD v4 |
| 2 | g.15218894C>A | CA345884727 | NBAS | c.4297G>T c.4426+13528G>T c.822G>T c.2167G>T c.6311G>T (p.Arg2104Leu) c.512+13528G>T (n.512+13528G>T) c.3454G>T n.6280+13528G>T c.6182G>T (p.Arg2061Leu) c.5672G>T (p.Arg1891Leu) c.4112G>T (p.Arg1371Leu) c.4103G>T (p.Arg1368Leu) n.6266+13528G>T | COSMIC |
| 2 | g.15218894C= | CA2490796233 | NBAS | c.4297G= c.4426+13528G= c.822G= c.2167G= c.6311G= (p.Arg2104=) c.512+13528G= (n.512+13528G=) c.3454G= n.6280+13528G= c.6182G= (p.Arg2061=) c.5672G= (p.Arg1891=) c.4112G= (p.Arg1371=) c.4103G= (p.Arg1368=) n.6266+13528G= | |
| 2 | g.15218894C>G | CA345884730 | NBAS | c.4297G>C c.4426+13528G>C c.822G>C c.2167G>C c.6311G>C (p.Arg2104Pro) c.512+13528G>C (n.512+13528G>C) c.3454G>C n.6280+13528G>C c.6182G>C (p.Arg2061Pro) c.5672G>C (p.Arg1891Pro) c.4112G>C (p.Arg1371Pro) c.4103G>C (p.Arg1368Pro) n.6266+13528G>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15218894C>T | CA1535041 | NBAS | c.4297G>A c.4426+13528G>A c.822G>A c.2167G>A c.6311G>A (p.Arg2104Gln) c.512+13528G>A (n.512+13528G>A) c.3454G>A n.6280+13528G>A c.6182G>A (p.Arg2061Gln) c.5672G>A (p.Arg1891Gln) c.4112G>A (p.Arg1371Gln) c.4103G>A (p.Arg1368Gln) n.6266+13528G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15218895G>A | CA1535042 | NBAS | c.4296C>T c.4426+13527C>T c.821C>T c.2166C>T c.6310C>T (p.Arg2104Trp) c.512+13527C>T (n.512+13527C>T) c.3453C>T n.6280+13527C>T c.6181C>T (p.Arg2061Trp) c.5671C>T (p.Arg1891Trp) c.4111C>T (p.Arg1371Trp) c.4102C>T (p.Arg1368Trp) n.6266+13527C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15218895G>C | CA1535043 | NBAS | c.4296C>G c.4426+13527C>G c.821C>G c.2166C>G c.6310C>G (p.Arg2104Gly) c.512+13527C>G (n.512+13527C>G) c.3453C>G n.6280+13527C>G c.6181C>G (p.Arg2061Gly) c.5671C>G (p.Arg1891Gly) c.4111C>G (p.Arg1371Gly) c.4102C>G (p.Arg1368Gly) n.6266+13527C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.15218895G= | CA2490796234 | NBAS | c.4296C= c.4426+13527C= c.821C= c.2166C= c.6310C= (p.Arg2104=) c.512+13527C= (n.512+13527C=) c.3453C= n.6280+13527C= c.6181C= (p.Arg2061=) c.5671C= (p.Arg1891=) c.4111C= (p.Arg1371=) c.4102C= (p.Arg1368=) n.6266+13527C= | |
| 2 | g.15218895G>T | CA424866968 | NBAS | c.4296C>A c.4426+13527C>A c.821C>A c.2166C>A c.6310C>A (p.Arg2104=) c.512+13527C>A (n.512+13527C>A) c.3453C>A n.6280+13527C>A c.6181C>A (p.Arg2061=) c.5671C>A (p.Arg1891=) c.4111C>A (p.Arg1371=) c.4102C>A (p.Arg1368=) n.6266+13527C>A | |
| 2 | g.15218896C>A | CA424866971 | NBAS | c.4295G>T c.4426+13526G>T c.820G>T c.2165G>T c.6309G>T (p.Val2103=) c.512+13526G>T (n.512+13526G>T) c.3452G>T n.6280+13526G>T c.6180G>T (p.Val2060=) c.5670G>T (p.Val1890=) c.4110G>T (p.Val1370=) c.4101G>T (p.Val1367=) n.6266+13526G>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.15218896C= | CA2490796235 | NBAS | c.4295G= c.4426+13526G= c.820G= c.2165G= c.6309G= (p.Val2103=) c.512+13526G= (n.512+13526G=) c.3452G= n.6280+13526G= c.6180G= (p.Val2060=) c.5670G= (p.Val1890=) c.4110G= (p.Val1370=) c.4101G= (p.Val1367=) n.6266+13526G= | |
| 2 | g.15218896C>G | CA424866969 | NBAS | c.4295G>C c.4426+13526G>C c.820G>C c.2165G>C c.6309G>C (p.Val2103=) c.512+13526G>C (n.512+13526G>C) c.3452G>C n.6280+13526G>C c.6180G>C (p.Val2060=) c.5670G>C (p.Val1890=) c.4110G>C (p.Val1370=) c.4101G>C (p.Val1367=) n.6266+13526G>C | |
| 2 | g.15218896C>T | CA424866970 | NBAS | c.4295G>A c.4426+13526G>A c.820G>A c.2165G>A c.6309G>A (p.Val2103=) c.512+13526G>A (n.512+13526G>A) c.3452G>A n.6280+13526G>A c.6180G>A (p.Val2060=) c.5670G>A (p.Val1890=) c.4110G>A (p.Val1370=) c.4101G>A (p.Val1367=) n.6266+13526G>A | |
| 2 | g.15218897A>C | CA345884738 | NBAS | c.4294T>G c.4426+13525T>G c.819T>G c.2164T>G c.6308T>G (p.Val2103Gly) c.512+13525T>G (n.512+13525T>G) c.3451T>G n.6280+13525T>G c.6179T>G (p.Val2060Gly) c.5669T>G (p.Val1890Gly) c.4109T>G (p.Val1370Gly) c.4100T>G (p.Val1367Gly) n.6266+13525T>G | |
| 2 | g.15218897A>G | CA345884752 | NBAS | c.4294T>C c.4426+13525T>C c.819T>C c.2164T>C c.6308T>C (p.Val2103Ala) c.512+13525T>C (n.512+13525T>C) c.3451T>C n.6280+13525T>C c.6179T>C (p.Val2060Ala) c.5669T>C (p.Val1890Ala) c.4109T>C (p.Val1370Ala) c.4100T>C (p.Val1367Ala) n.6266+13525T>C | |
| 2 | g.15218897A>T | CA345884755 | NBAS | c.4294T>A c.4426+13525T>A c.819T>A c.2164T>A c.6308T>A (p.Val2103Glu) c.512+13525T>A (n.512+13525T>A) c.3451T>A n.6280+13525T>A c.6179T>A (p.Val2060Glu) c.5669T>A (p.Val1890Glu) c.4109T>A (p.Val1370Glu) c.4100T>A (p.Val1367Glu) n.6266+13525T>A | |
| 2 | g.15218897_15218898delinsAC | CA2490796236 | NBAS | c.4293_4294delinsGT c.4426+13524_4426+13525delinsGT c.818_819delinsGT c.2163_2164delinsGT c.6307_6308delinsGT (p.Val2103=) c.512+13524_512+13525delinsGT (n.512+13524_512+13525delinsGT) c.3450_3451delinsGT n.6280+13524_6280+13525delinsGT c.6178_6179delinsGT (p.Val2060=) c.5668_5669delinsGT (p.Val1890=) c.4108_4109delinsGT (p.Val1370=) c.4099_4100delinsGT (p.Val1367=) n.6266+13524_6266+13525delinsGT | |
| 2 | g.15218898C>A | CA345884759 | NBAS | c.4293G>T c.4426+13524G>T c.818G>T c.2163G>T c.6307G>T (p.Val2103Leu) c.512+13524G>T (n.512+13524G>T) c.3450G>T n.6280+13524G>T c.6178G>T (p.Val2060Leu) c.5668G>T (p.Val1890Leu) c.4108G>T (p.Val1370Leu) c.4099G>T (p.Val1367Leu) n.6266+13524G>T | gnomAD v4 |
| 2 | g.15218898C= | CA2490796237 | NBAS | c.4293G= c.4426+13524G= c.818G= c.2163G= c.6307G= (p.Val2103=) c.512+13524G= (n.512+13524G=) c.3450G= n.6280+13524G= c.6178G= (p.Val2060=) c.5668G= (p.Val1890=) c.4108G= (p.Val1370=) c.4099G= (p.Val1367=) n.6266+13524G= | |
| 2 | g.15218898C>G | CA1535044 | NBAS | c.4293G>C c.4426+13524G>C c.818G>C c.2163G>C c.6307G>C (p.Val2103Leu) c.512+13524G>C (n.512+13524G>C) c.3450G>C n.6280+13524G>C c.6178G>C (p.Val2060Leu) c.5668G>C (p.Val1890Leu) c.4108G>C (p.Val1370Leu) c.4099G>C (p.Val1367Leu) n.6266+13524G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15218898C>T | CA42584460 | NBAS | c.4293G>A c.4426+13524G>A c.818G>A c.2163G>A c.6307G>A (p.Val2103Met) c.512+13524G>A (n.512+13524G>A) c.3450G>A n.6280+13524G>A c.6178G>A (p.Val2060Met) c.5668G>A (p.Val1890Met) c.4108G>A (p.Val1370Met) c.4099G>A (p.Val1367Met) n.6266+13524G>A | dbSNP gnomAD v4 |
| 2 | g.15218899del | CA758915144 | NBAS | c.4293del c.4426+13524del c.818del c.2163del c.6307del (p.Val2103CysfsTer17) c.512+13524del (n.512+13524del) c.3450del n.6280+13524del c.6178del (p.Val2060CysfsTer17) c.5668del (p.Val1890CysfsTer17) c.4108del (p.Val1370CysfsTer17) c.4099del (p.Val1367CysfsTer17) n.6266+13524del | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.15218899C>A | CA424866972 | NBAS | c.4292G>T c.4426+13523G>T c.817G>T c.2162G>T c.6306G>T (p.Pro2102=) c.512+13523G>T (n.512+13523G>T) c.3449G>T n.6280+13523G>T c.6177G>T (p.Pro2059=) c.5667G>T (p.Pro1889=) c.4107G>T (p.Pro1369=) c.4098G>T (p.Pro1366=) n.6266+13523G>T | dbSNP gnomAD v4 |
| 2 | g.15218899C= | CA2490796238 | NBAS | c.4292G= c.4426+13523G= c.817G= c.2162G= c.6306G= (p.Pro2102=) c.512+13523G= (n.512+13523G=) c.3449G= n.6280+13523G= c.6177G= (p.Pro2059=) c.5667G= (p.Pro1889=) c.4107G= (p.Pro1369=) c.4098G= (p.Pro1366=) n.6266+13523G= | |
| 2 | g.15218899C>G | CA424866973 | NBAS | c.4292G>C c.4426+13523G>C c.817G>C c.2162G>C c.6306G>C (p.Pro2102=) c.512+13523G>C (n.512+13523G>C) c.3449G>C n.6280+13523G>C c.6177G>C (p.Pro2059=) c.5667G>C (p.Pro1889=) c.4107G>C (p.Pro1369=) c.4098G>C (p.Pro1366=) n.6266+13523G>C | gnomAD v4 |
| 2 | g.15218899C>T | CA1535045 | NBAS | c.4292G>A c.4426+13523G>A c.817G>A c.2162G>A c.6306G>A (p.Pro2102=) c.512+13523G>A (n.512+13523G>A) c.3449G>A n.6280+13523G>A c.6177G>A (p.Pro2059=) c.5667G>A (p.Pro1889=) c.4107G>A (p.Pro1369=) c.4098G>A (p.Pro1366=) n.6266+13523G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15218901_15218908del | CA2576680242 | NBAS | c.4285_4292del c.4426+13516_4426+13523del c.810_817del c.2155_2162del c.6299_6306del (p.Ala2100GlyfsTer19) c.512+13516_512+13523del (n.512+13516_512+13523del) c.3442_3449del n.6280+13516_6280+13523del c.6170_6177del (p.Ala2057GlyfsTer19) c.5660_5667del (p.Ala1887GlyfsTer19) c.4100_4107del (p.Ala1367GlyfsTer19) c.4091_4098del (p.Ala1364GlyfsTer19) n.6266+13516_6266+13523del | gnomAD v4 |
| 2 | g.15218900G>A | CA1535047 | NBAS | c.4291C>T c.4426+13522C>T c.816C>T c.2161C>T c.6305C>T (p.Pro2102Leu) c.512+13522C>T (n.512+13522C>T) c.3448C>T n.6280+13522C>T c.6176C>T (p.Pro2059Leu) c.5666C>T (p.Pro1889Leu) c.4106C>T (p.Pro1369Leu) c.4097C>T (p.Pro1366Leu) n.6266+13522C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.15218900G>C | CA1535046 | NBAS | c.4291C>G c.4426+13522C>G c.816C>G c.2161C>G c.6305C>G (p.Pro2102Arg) c.512+13522C>G (n.512+13522C>G) c.3448C>G n.6280+13522C>G c.6176C>G (p.Pro2059Arg) c.5666C>G (p.Pro1889Arg) c.4106C>G (p.Pro1369Arg) c.4097C>G (p.Pro1366Arg) n.6266+13522C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.15218900G= | CA2490796239 | NBAS | c.4291C= c.4426+13522C= c.816C= c.2161C= c.6305C= (p.Pro2102=) c.512+13522C= (n.512+13522C=) c.3448C= n.6280+13522C= c.6176C= (p.Pro2059=) c.5666C= (p.Pro1889=) c.4106C= (p.Pro1369=) c.4097C= (p.Pro1366=) n.6266+13522C= | |
| 2 | g.15218900G>T | CA345884772 | NBAS | c.4291C>A c.4426+13522C>A c.816C>A c.2161C>A c.6305C>A (p.Pro2102Gln) c.512+13522C>A (n.512+13522C>A) c.3448C>A n.6280+13522C>A c.6176C>A (p.Pro2059Gln) c.5666C>A (p.Pro1889Gln) c.4106C>A (p.Pro1369Gln) c.4097C>A (p.Pro1366Gln) n.6266+13522C>A | gnomAD v4 |
| 2 | g.15218901G>A | CA42584487 | NBAS | c.4290C>T c.4426+13521C>T c.815C>T c.2160C>T c.6304C>T (p.Pro2102Ser) c.512+13521C>T (n.512+13521C>T) c.3447C>T n.6280+13521C>T c.6175C>T (p.Pro2059Ser) c.5665C>T (p.Pro1889Ser) c.4105C>T (p.Pro1369Ser) c.4096C>T (p.Pro1366Ser) n.6266+13521C>T | dbSNP |
| 2 | g.15218901G>C | CA345884781 | NBAS | c.4290C>G c.4426+13521C>G c.815C>G c.2160C>G c.6304C>G (p.Pro2102Ala) c.512+13521C>G (n.512+13521C>G) c.3447C>G n.6280+13521C>G c.6175C>G (p.Pro2059Ala) c.5665C>G (p.Pro1889Ala) c.4105C>G (p.Pro1369Ala) c.4096C>G (p.Pro1366Ala) n.6266+13521C>G | |
| 2 | g.15218901G= | CA2490796240 | NBAS | c.4290C= c.4426+13521C= c.815C= c.2160C= c.6304C= (p.Pro2102=) c.512+13521C= (n.512+13521C=) c.3447C= n.6280+13521C= c.6175C= (p.Pro2059=) c.5665C= (p.Pro1889=) c.4105C= (p.Pro1369=) c.4096C= (p.Pro1366=) n.6266+13521C= | |
| 2 | g.15218901G>T | CA345884783 | NBAS | c.4290C>A c.4426+13521C>A c.815C>A c.2160C>A c.6304C>A (p.Pro2102Thr) c.512+13521C>A (n.512+13521C>A) c.3447C>A n.6280+13521C>A c.6175C>A (p.Pro2059Thr) c.5665C>A (p.Pro1889Thr) c.4105C>A (p.Pro1369Thr) c.4096C>A (p.Pro1366Thr) n.6266+13521C>A | |
| 2 | g.15218902C>A | CA345884788 | NBAS | c.4289G>T c.4426+13520G>T c.814G>T c.2159G>T c.6303G>T (p.Trp2101Cys) c.512+13520G>T (n.512+13520G>T) c.3446G>T n.6280+13520G>T c.6174G>T (p.Trp2058Cys) c.5664G>T (p.Trp1888Cys) c.4104G>T (p.Trp1368Cys) c.4095G>T (p.Trp1365Cys) n.6266+13520G>T | gnomAD v4 |
| 2 | g.15218902C>G | CA345884790 | NBAS | c.4289G>C c.4426+13520G>C c.814G>C c.2159G>C c.6303G>C (p.Trp2101Cys) c.512+13520G>C (n.512+13520G>C) c.3446G>C n.6280+13520G>C c.6174G>C (p.Trp2058Cys) c.5664G>C (p.Trp1888Cys) c.4104G>C (p.Trp1368Cys) c.4095G>C (p.Trp1365Cys) n.6266+13520G>C | |
| 2 | g.15218902C>T | CA345884793 | NBAS | c.4289G>A c.4426+13520G>A c.814G>A c.2159G>A c.6303G>A (p.Trp2101Ter) c.512+13520G>A (n.512+13520G>A) c.3446G>A n.6280+13520G>A c.6174G>A (p.Trp2058Ter) c.5664G>A (p.Trp1888Ter) c.4104G>A (p.Trp1368Ter) c.4095G>A (p.Trp1365Ter) n.6266+13520G>A | |
| 2 | g.15218903C>A | CA345884795 | NBAS | c.4288G>T c.4426+13519G>T c.813G>T c.2158G>T c.6302G>T (p.Trp2101Leu) c.512+13519G>T (n.512+13519G>T) c.3445G>T n.6280+13519G>T c.6173G>T (p.Trp2058Leu) c.5663G>T (p.Trp1888Leu) c.4103G>T (p.Trp1368Leu) c.4094G>T (p.Trp1365Leu) n.6266+13519G>T |