| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.47000370G>A | CA352517256 | NBEAL2 | c.4271G>A (p.Ser1424Asn) c.4169G>A (p.Ser1390Asn) c.2134G>A c.743G>A (p.Ser248Asn) c.4190G>A (p.Ser1397Asn) c.4250G>A (p.Ser1417Asn) c.3902G>A (p.Ser1301Asn) c.3731G>A (p.Ser1244Asn) c.3617G>A (p.Ser1206Asn) c.3179G>A (p.Ser1060Asn) n.4447G>A | gnomAD v4 |
| 3 | g.47000370G>C | CA352517258 | NBEAL2 | c.4271G>C (p.Ser1424Thr) c.4169G>C (p.Ser1390Thr) c.2134G>C c.743G>C (p.Ser248Thr) c.4190G>C (p.Ser1397Thr) c.4250G>C (p.Ser1417Thr) c.3902G>C (p.Ser1301Thr) c.3731G>C (p.Ser1244Thr) c.3617G>C (p.Ser1206Thr) c.3179G>C (p.Ser1060Thr) n.4447G>C | |
| 3 | g.47000370G>T | CA352517260 | NBEAL2 | c.4271G>T (p.Ser1424Ile) c.4169G>T (p.Ser1390Ile) c.2134G>T c.743G>T (p.Ser248Ile) c.4190G>T (p.Ser1397Ile) c.4250G>T (p.Ser1417Ile) c.3902G>T (p.Ser1301Ile) c.3731G>T (p.Ser1244Ile) c.3617G>T (p.Ser1206Ile) c.3179G>T (p.Ser1060Ile) n.4447G>T | |
| 3 | g.47000371C>A | CA352517263 | NBEAL2 | c.4272C>A (p.Ser1424Arg) c.4170C>A (p.Ser1390Arg) c.2135C>A c.744C>A (p.Ser248Arg) c.4191C>A (p.Ser1397Arg) c.4251C>A (p.Ser1417Arg) c.3903C>A (p.Ser1301Arg) c.3732C>A (p.Ser1244Arg) c.3618C>A (p.Ser1206Arg) c.3180C>A (p.Ser1060Arg) n.4448C>A | gnomAD v4 |
| 3 | g.47000371C= | CA1362363155 | NBEAL2 | c.4272C= (p.Ser1424=) c.4170C= (p.Ser1390=) c.2135C= c.744C= (p.Ser248=) c.4191C= (p.Ser1397=) c.4251C= (p.Ser1417=) c.3903C= (p.Ser1301=) c.3732C= (p.Ser1244=) c.3618C= (p.Ser1206=) c.3180C= (p.Ser1060=) n.4448C= | |
| 3 | g.47000371C>G | CA352517265 | NBEAL2 | c.4272C>G (p.Ser1424Arg) c.4170C>G (p.Ser1390Arg) c.2135C>G c.744C>G (p.Ser248Arg) c.4191C>G (p.Ser1397Arg) c.4251C>G (p.Ser1417Arg) c.3903C>G (p.Ser1301Arg) c.3732C>G (p.Ser1244Arg) c.3618C>G (p.Ser1206Arg) c.3180C>G (p.Ser1060Arg) n.4448C>G | |
| 3 | g.47000371C>T | CA2361192 | NBEAL2 | c.4272C>T (p.Ser1424=) c.4170C>T (p.Ser1390=) c.2135C>T c.744C>T (p.Ser248=) c.4191C>T (p.Ser1397=) c.4251C>T (p.Ser1417=) c.3903C>T (p.Ser1301=) c.3732C>T (p.Ser1244=) c.3618C>T (p.Ser1206=) c.3180C>T (p.Ser1060=) n.4448C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.47000372G>A | CA352517267 | NBEAL2 | c.4273G>A (p.Gly1425Arg) c.4171G>A (p.Gly1391Arg) c.2136G>A c.745G>A (p.Gly249Arg) c.4192G>A (p.Gly1398Arg) c.4252G>A (p.Gly1418Arg) c.3904G>A (p.Gly1302Arg) c.3733G>A (p.Gly1245Arg) c.3619G>A (p.Gly1207Arg) c.3181G>A (p.Gly1061Arg) n.4449G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000372G>C | CA352517270 | NBEAL2 | c.4273G>C (p.Gly1425Arg) c.4171G>C (p.Gly1391Arg) c.2136G>C c.745G>C (p.Gly249Arg) c.4192G>C (p.Gly1398Arg) c.4252G>C (p.Gly1418Arg) c.3904G>C (p.Gly1302Arg) c.3733G>C (p.Gly1245Arg) c.3619G>C (p.Gly1207Arg) c.3181G>C (p.Gly1061Arg) n.4449G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47000372G= | CA1362363156 | NBEAL2 | c.4273G= (p.Gly1425=) c.4171G= (p.Gly1391=) c.2136G= c.745G= (p.Gly249=) c.4192G= (p.Gly1398=) c.4252G= (p.Gly1418=) c.3904G= (p.Gly1302=) c.3733G= (p.Gly1245=) c.3619G= (p.Gly1207=) c.3181G= (p.Gly1061=) n.4449G= | |
| 3 | g.47000372G>T | CA352517272 | NBEAL2 | c.4273G>T (p.Gly1425Trp) c.4171G>T (p.Gly1391Trp) c.2136G>T c.745G>T (p.Gly249Trp) c.4192G>T (p.Gly1398Trp) c.4252G>T (p.Gly1418Trp) c.3904G>T (p.Gly1302Trp) c.3733G>T (p.Gly1245Trp) c.3619G>T (p.Gly1207Trp) c.3181G>T (p.Gly1061Trp) n.4449G>T | |
| 3 | g.47000373G>A | CA352517275 | NBEAL2 | c.4274G>A (p.Gly1425Glu) c.4172G>A (p.Gly1391Glu) c.2137G>A c.746G>A (p.Gly249Glu) c.4193G>A (p.Gly1398Glu) c.4253G>A (p.Gly1418Glu) c.3905G>A (p.Gly1302Glu) c.3734G>A (p.Gly1245Glu) c.3620G>A (p.Gly1207Glu) c.3182G>A (p.Gly1061Glu) n.4450G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47000373G>C | CA352517277 | NBEAL2 | c.4274G>C (p.Gly1425Ala) c.4172G>C (p.Gly1391Ala) c.2137G>C c.746G>C (p.Gly249Ala) c.4193G>C (p.Gly1398Ala) c.4253G>C (p.Gly1418Ala) c.3905G>C (p.Gly1302Ala) c.3734G>C (p.Gly1245Ala) c.3620G>C (p.Gly1207Ala) c.3182G>C (p.Gly1061Ala) n.4450G>C | dbSNP |
| 3 | g.47000373G= | CA1362363157 | NBEAL2 | c.4274G= (p.Gly1425=) c.4172G= (p.Gly1391=) c.2137G= c.746G= (p.Gly249=) c.4193G= (p.Gly1398=) c.4253G= (p.Gly1418=) c.3905G= (p.Gly1302=) c.3734G= (p.Gly1245=) c.3620G= (p.Gly1207=) c.3182G= (p.Gly1061=) n.4450G= | |
| 3 | g.47000373G>T | CA352517278 | NBEAL2 | c.4274G>T (p.Gly1425Val) c.4172G>T (p.Gly1391Val) c.2137G>T c.746G>T (p.Gly249Val) c.4193G>T (p.Gly1398Val) c.4253G>T (p.Gly1418Val) c.3905G>T (p.Gly1302Val) c.3734G>T (p.Gly1245Val) c.3620G>T (p.Gly1207Val) c.3182G>T (p.Gly1061Val) n.4450G>T | dbSNP gnomAD v2 |
| 3 | g.47000374G>A | CA73818044 | NBEAL2 | c.4275G>A (p.Gly1425=) c.4173G>A (p.Gly1391=) c.2138G>A c.747G>A (p.Gly249=) c.4194G>A (p.Gly1398=) c.4254G>A (p.Gly1418=) c.3906G>A (p.Gly1302=) c.3735G>A (p.Gly1245=) c.3621G>A (p.Gly1207=) c.3183G>A (p.Gly1061=) n.4451G>A | dbSNP gnomAD v4 |
| 3 | g.47000374G>C | CA433598443 | NBEAL2 | c.4275G>C (p.Gly1425=) c.4173G>C (p.Gly1391=) c.2138G>C c.747G>C (p.Gly249=) c.4194G>C (p.Gly1398=) c.4254G>C (p.Gly1418=) c.3906G>C (p.Gly1302=) c.3735G>C (p.Gly1245=) c.3621G>C (p.Gly1207=) c.3183G>C (p.Gly1061=) n.4451G>C | gnomAD v4 |
| 3 | g.47000374G= | CA1362363158 | NBEAL2 | c.4275G= (p.Gly1425=) c.4173G= (p.Gly1391=) c.2138G= c.747G= (p.Gly249=) c.4194G= (p.Gly1398=) c.4254G= (p.Gly1418=) c.3906G= (p.Gly1302=) c.3735G= (p.Gly1245=) c.3621G= (p.Gly1207=) c.3183G= (p.Gly1061=) n.4451G= | |
| 3 | g.47000374G>T | CA433598444 | NBEAL2 | c.4275G>T (p.Gly1425=) c.4173G>T (p.Gly1391=) c.2138G>T c.747G>T (p.Gly249=) c.4194G>T (p.Gly1398=) c.4254G>T (p.Gly1418=) c.3906G>T (p.Gly1302=) c.3735G>T (p.Gly1245=) c.3621G>T (p.Gly1207=) c.3183G>T (p.Gly1061=) n.4451G>T | |
| 3 | g.47000374_47000377delinsGGAT | CA1362363159 | NBEAL2 | c.4275_4278delinsGGAT (p.Gly1425=) c.4173_4176delinsGGAT (p.Gly1391=) c.2138_2141delinsGGAT c.747_750delinsGGAT (p.Gly249=) c.4194_4197delinsGGAT (p.Gly1398=) c.4254_4257delinsGGAT (p.Gly1418=) c.3906_3909delinsGGAT (p.Gly1302=) c.3735_3738delinsGGAT (p.Gly1245=) c.3621_3624delinsGGAT (p.Gly1207=) c.3183_3186delinsGGAT (p.Gly1061=) n.4451_4454delinsGGAT | |
| 3 | g.47000375G>A | CA352517280 | NBEAL2 | c.4276G>A (p.Asp1426Asn) c.4174G>A (p.Asp1392Asn) c.2139G>A c.748G>A (p.Asp250Asn) c.4195G>A (p.Asp1399Asn) c.4255G>A (p.Asp1419Asn) c.3907G>A (p.Asp1303Asn) c.3736G>A (p.Asp1246Asn) c.3622G>A (p.Asp1208Asn) c.3184G>A (p.Asp1062Asn) n.4452G>A | |
| 3 | g.47000375G>C | CA352517282 | NBEAL2 | c.4276G>C (p.Asp1426His) c.4174G>C (p.Asp1392His) c.2139G>C c.748G>C (p.Asp250His) c.4195G>C (p.Asp1399His) c.4255G>C (p.Asp1419His) c.3907G>C (p.Asp1303His) c.3736G>C (p.Asp1246His) c.3622G>C (p.Asp1208His) c.3184G>C (p.Asp1062His) n.4452G>C | |
| 3 | g.47000375G>T | CA352517284 | NBEAL2 | c.4276G>T (p.Asp1426Tyr) c.4174G>T (p.Asp1392Tyr) c.2139G>T c.748G>T (p.Asp250Tyr) c.4195G>T (p.Asp1399Tyr) c.4255G>T (p.Asp1419Tyr) c.3907G>T (p.Asp1303Tyr) c.3736G>T (p.Asp1246Tyr) c.3622G>T (p.Asp1208Tyr) c.3184G>T (p.Asp1062Tyr) n.4452G>T | |
| 3 | g.47000375_47000376delinsGA | CA1362363160 | NBEAL2 | c.4276_4277delinsGA (p.Asp1426=) c.4174_4175delinsGA (p.Asp1392=) c.2139_2140delinsGA c.748_749delinsGA (p.Asp250=) c.4195_4196delinsGA (p.Asp1399=) c.4255_4256delinsGA (p.Asp1419=) c.3907_3908delinsGA (p.Asp1303=) c.3736_3737delinsGA (p.Asp1246=) c.3622_3623delinsGA (p.Asp1208=) c.3184_3185delinsGA (p.Asp1062=) n.4452_4453delinsGA | |
| 3 | g.47000378_47000380del | CA543042237 | NBEAL2 | c.4279_4281del (p.Asp1427del) c.4177_4179del (p.Asp1393del) c.2142_2144del c.751_753del (p.Asp251del) c.4198_4200del (p.Asp1400del) c.4258_4260del (p.Asp1420del) c.3910_3912del (p.Asp1304del) c.3739_3741del (p.Asp1247del) c.3625_3627del (p.Asp1209del) c.3187_3189del (p.Asp1063del) n.4455_4457del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000376del | CA2361193 | NBEAL2 | c.4277del (p.Asp1426ValfsTer28) c.4175del (p.Asp1392ValfsTer28) c.2140del c.749del (p.Asp250ValfsTer28) c.4196del (p.Asp1399ValfsTer28) c.4256del (p.Asp1419ValfsTer28) c.3908del (p.Asp1303ValfsTer28) c.3737del (p.Asp1246ValfsTer28) c.3623del (p.Asp1208ValfsTer28) c.3185del (p.Asp1062ValfsTer28) n.4453del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000376A= | CA1362363161 | NBEAL2 | c.4277A= (p.Asp1426=) c.4175A= (p.Asp1392=) c.2140A= c.749A= (p.Asp250=) c.4196A= (p.Asp1399=) c.4256A= (p.Asp1419=) c.3908A= (p.Asp1303=) c.3737A= (p.Asp1246=) c.3623A= (p.Asp1208=) c.3185A= (p.Asp1062=) n.4453A= | |
| 3 | g.47000376A>C | CA352517287 | NBEAL2 | c.4277A>C (p.Asp1426Ala) c.4175A>C (p.Asp1392Ala) c.2140A>C c.749A>C (p.Asp250Ala) c.4196A>C (p.Asp1399Ala) c.4256A>C (p.Asp1419Ala) c.3908A>C (p.Asp1303Ala) c.3737A>C (p.Asp1246Ala) c.3623A>C (p.Asp1208Ala) c.3185A>C (p.Asp1062Ala) n.4453A>C | |
| 3 | g.47000376A>G | CA352517289 | NBEAL2 | c.4277A>G (p.Asp1426Gly) c.4175A>G (p.Asp1392Gly) c.2140A>G c.749A>G (p.Asp250Gly) c.4196A>G (p.Asp1399Gly) c.4256A>G (p.Asp1419Gly) c.3908A>G (p.Asp1303Gly) c.3737A>G (p.Asp1246Gly) c.3623A>G (p.Asp1208Gly) c.3185A>G (p.Asp1062Gly) n.4453A>G | dbSNP |
| 3 | g.47000376A>T | CA352517291 | NBEAL2 | c.4277A>T (p.Asp1426Val) c.4175A>T (p.Asp1392Val) c.2140A>T c.749A>T (p.Asp250Val) c.4196A>T (p.Asp1399Val) c.4256A>T (p.Asp1419Val) c.3908A>T (p.Asp1303Val) c.3737A>T (p.Asp1246Val) c.3623A>T (p.Asp1208Val) c.3185A>T (p.Asp1062Val) n.4453A>T | |
| 3 | g.47000377T>A | CA352517297 | NBEAL2 | c.4278T>A (p.Asp1426Glu) c.4176T>A (p.Asp1392Glu) c.2141T>A c.750T>A (p.Asp250Glu) c.4197T>A (p.Asp1399Glu) c.4257T>A (p.Asp1419Glu) c.3909T>A (p.Asp1303Glu) c.3738T>A (p.Asp1246Glu) c.3624T>A (p.Asp1208Glu) c.3186T>A (p.Asp1062Glu) n.4454T>A | |
| 3 | g.47000377T>C | CA433598445 | NBEAL2 | c.4278T>C (p.Asp1426=) c.4176T>C (p.Asp1392=) c.2141T>C c.750T>C (p.Asp250=) c.4197T>C (p.Asp1399=) c.4257T>C (p.Asp1419=) c.3909T>C (p.Asp1303=) c.3738T>C (p.Asp1246=) c.3624T>C (p.Asp1208=) c.3186T>C (p.Asp1062=) n.4454T>C | |
| 3 | g.47000377T>G | CA352517295 | NBEAL2 | c.4278T>G (p.Asp1426Glu) c.4176T>G (p.Asp1392Glu) c.2141T>G c.750T>G (p.Asp250Glu) c.4197T>G (p.Asp1399Glu) c.4257T>G (p.Asp1419Glu) c.3909T>G (p.Asp1303Glu) c.3738T>G (p.Asp1246Glu) c.3624T>G (p.Asp1208Glu) c.3186T>G (p.Asp1062Glu) n.4454T>G | |
| 3 | g.47000378G>A | CA2361194 | NBEAL2 | c.4279G>A (p.Asp1427Asn) c.4177G>A (p.Asp1393Asn) c.2142G>A c.751G>A (p.Asp251Asn) c.4198G>A (p.Asp1400Asn) c.4258G>A (p.Asp1420Asn) c.3910G>A (p.Asp1304Asn) c.3739G>A (p.Asp1247Asn) c.3625G>A (p.Asp1209Asn) c.3187G>A (p.Asp1063Asn) n.4455G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000378G>C | CA352517301 | NBEAL2 | c.4279G>C (p.Asp1427His) c.4177G>C (p.Asp1393His) c.2142G>C c.751G>C (p.Asp251His) c.4198G>C (p.Asp1400His) c.4258G>C (p.Asp1420His) c.3910G>C (p.Asp1304His) c.3739G>C (p.Asp1247His) c.3625G>C (p.Asp1209His) c.3187G>C (p.Asp1063His) n.4455G>C | |
| 3 | g.47000378G= | CA1362363162 | NBEAL2 | c.4279G= (p.Asp1427=) c.4177G= (p.Asp1393=) c.2142G= c.751G= (p.Asp251=) c.4198G= (p.Asp1400=) c.4258G= (p.Asp1420=) c.3910G= (p.Asp1304=) c.3739G= (p.Asp1247=) c.3625G= (p.Asp1209=) c.3187G= (p.Asp1063=) n.4455G= | |
| 3 | g.47000378G>T | CA352517303 | NBEAL2 | c.4279G>T (p.Asp1427Tyr) c.4177G>T (p.Asp1393Tyr) c.2142G>T c.751G>T (p.Asp251Tyr) c.4198G>T (p.Asp1400Tyr) c.4258G>T (p.Asp1420Tyr) c.3910G>T (p.Asp1304Tyr) c.3739G>T (p.Asp1247Tyr) c.3625G>T (p.Asp1209Tyr) c.3187G>T (p.Asp1063Tyr) n.4455G>T | gnomAD v4 |
| 3 | g.47000379A= | CA1362363163 | NBEAL2 | c.4280A= (p.Asp1427=) c.4178A= (p.Asp1393=) c.2143A= c.752A= (p.Asp251=) c.4199A= (p.Asp1400=) c.4259A= (p.Asp1420=) c.3911A= (p.Asp1304=) c.3740A= (p.Asp1247=) c.3626A= (p.Asp1209=) c.3188A= (p.Asp1063=) n.4456A= | |
| 3 | g.47000379A>C | CA352517306 | NBEAL2 | c.4280A>C (p.Asp1427Ala) c.4178A>C (p.Asp1393Ala) c.2143A>C c.752A>C (p.Asp251Ala) c.4199A>C (p.Asp1400Ala) c.4259A>C (p.Asp1420Ala) c.3911A>C (p.Asp1304Ala) c.3740A>C (p.Asp1247Ala) c.3626A>C (p.Asp1209Ala) c.3188A>C (p.Asp1063Ala) n.4456A>C | |
| 3 | g.47000379A>G | CA352517308 | NBEAL2 | c.4280A>G (p.Asp1427Gly) c.4178A>G (p.Asp1393Gly) c.2143A>G c.752A>G (p.Asp251Gly) c.4199A>G (p.Asp1400Gly) c.4259A>G (p.Asp1420Gly) c.3911A>G (p.Asp1304Gly) c.3740A>G (p.Asp1247Gly) c.3626A>G (p.Asp1209Gly) c.3188A>G (p.Asp1063Gly) n.4456A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000379A>T | CA352517310 | NBEAL2 | c.4280A>T (p.Asp1427Val) c.4178A>T (p.Asp1393Val) c.2143A>T c.752A>T (p.Asp251Val) c.4199A>T (p.Asp1400Val) c.4259A>T (p.Asp1420Val) c.3911A>T (p.Asp1304Val) c.3740A>T (p.Asp1247Val) c.3626A>T (p.Asp1209Val) c.3188A>T (p.Asp1063Val) n.4456A>T | |
| 3 | g.47000380T>A | CA352517316 | NBEAL2 | c.4281T>A (p.Asp1427Glu) c.4179T>A (p.Asp1393Glu) c.2144T>A c.753T>A (p.Asp251Glu) c.4200T>A (p.Asp1400Glu) c.4260T>A (p.Asp1420Glu) c.3912T>A (p.Asp1304Glu) c.3741T>A (p.Asp1247Glu) c.3627T>A (p.Asp1209Glu) c.3189T>A (p.Asp1063Glu) n.4457T>A | |
| 3 | g.47000380T>C | CA2361195 | NBEAL2 | c.4281T>C (p.Asp1427=) c.4179T>C (p.Asp1393=) c.2144T>C c.753T>C (p.Asp251=) c.4200T>C (p.Asp1400=) c.4260T>C (p.Asp1420=) c.3912T>C (p.Asp1304=) c.3741T>C (p.Asp1247=) c.3627T>C (p.Asp1209=) c.3189T>C (p.Asp1063=) n.4457T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000380T>G | CA352517314 | NBEAL2 | c.4281T>G (p.Asp1427Glu) c.4179T>G (p.Asp1393Glu) c.2144T>G c.753T>G (p.Asp251Glu) c.4200T>G (p.Asp1400Glu) c.4260T>G (p.Asp1420Glu) c.3912T>G (p.Asp1304Glu) c.3741T>G (p.Asp1247Glu) c.3627T>G (p.Asp1209Glu) c.3189T>G (p.Asp1063Glu) n.4457T>G | |
| 3 | g.47000380T= | CA1362363164 | NBEAL2 | c.4281T= (p.Asp1427=) c.4179T= (p.Asp1393=) c.2144T= c.753T= (p.Asp251=) c.4200T= (p.Asp1400=) c.4260T= (p.Asp1420=) c.3912T= (p.Asp1304=) c.3741T= (p.Asp1247=) c.3627T= (p.Asp1209=) c.3189T= (p.Asp1063=) n.4457T= | |
| 3 | g.47000381A>C | CA352517319 | NBEAL2 | c.4282A>C (p.Thr1428Pro) c.4180A>C (p.Thr1394Pro) c.2145A>C c.754A>C (p.Thr252Pro) c.4201A>C (p.Thr1401Pro) c.4261A>C (p.Thr1421Pro) c.3913A>C (p.Thr1305Pro) c.3742A>C (p.Thr1248Pro) c.3628A>C (p.Thr1210Pro) c.3190A>C (p.Thr1064Pro) n.4458A>C | |
| 3 | g.47000381A>G | CA352517321 | NBEAL2 | c.4282A>G (p.Thr1428Ala) c.4180A>G (p.Thr1394Ala) c.2145A>G c.754A>G (p.Thr252Ala) c.4201A>G (p.Thr1401Ala) c.4261A>G (p.Thr1421Ala) c.3913A>G (p.Thr1305Ala) c.3742A>G (p.Thr1248Ala) c.3628A>G (p.Thr1210Ala) c.3190A>G (p.Thr1064Ala) n.4458A>G | gnomAD v4 |
| 3 | g.47000381A>T | CA352517323 | NBEAL2 | c.4282A>T (p.Thr1428Ser) c.4180A>T (p.Thr1394Ser) c.2145A>T c.754A>T (p.Thr252Ser) c.4201A>T (p.Thr1401Ser) c.4261A>T (p.Thr1421Ser) c.3913A>T (p.Thr1305Ser) c.3742A>T (p.Thr1248Ser) c.3628A>T (p.Thr1210Ser) c.3190A>T (p.Thr1064Ser) n.4458A>T | |
| 3 | g.47000382C>A | CA352517326 | NBEAL2 | c.4283C>A (p.Thr1428Asn) c.4181C>A (p.Thr1394Asn) c.2146C>A c.755C>A (p.Thr252Asn) c.4202C>A (p.Thr1401Asn) c.4262C>A (p.Thr1421Asn) c.3914C>A (p.Thr1305Asn) c.3743C>A (p.Thr1248Asn) c.3629C>A (p.Thr1210Asn) c.3191C>A (p.Thr1064Asn) n.4459C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47000382C= | CA1362363165 | NBEAL2 | c.4283C= (p.Thr1428=) c.4181C= (p.Thr1394=) c.2146C= c.755C= (p.Thr252=) c.4202C= (p.Thr1401=) c.4262C= (p.Thr1421=) c.3914C= (p.Thr1305=) c.3743C= (p.Thr1248=) c.3629C= (p.Thr1210=) c.3191C= (p.Thr1064=) n.4459C= | |
| 3 | g.47000382C>G | CA352517328 | NBEAL2 | c.4283C>G (p.Thr1428Ser) c.4181C>G (p.Thr1394Ser) c.2146C>G c.755C>G (p.Thr252Ser) c.4202C>G (p.Thr1401Ser) c.4262C>G (p.Thr1421Ser) c.3914C>G (p.Thr1305Ser) c.3743C>G (p.Thr1248Ser) c.3629C>G (p.Thr1210Ser) c.3191C>G (p.Thr1064Ser) n.4459C>G | |
| 3 | g.47000382C>T | CA352517331 | NBEAL2 | c.4283C>T (p.Thr1428Ile) c.4181C>T (p.Thr1394Ile) c.2146C>T c.755C>T (p.Thr252Ile) c.4202C>T (p.Thr1401Ile) c.4262C>T (p.Thr1421Ile) c.3914C>T (p.Thr1305Ile) c.3743C>T (p.Thr1248Ile) c.3629C>T (p.Thr1210Ile) c.3191C>T (p.Thr1064Ile) n.4459C>T | |
| 3 | g.47000383C>A | CA433598446 | NBEAL2 | c.4284C>A (p.Thr1428=) c.4182C>A (p.Thr1394=) c.2147C>A c.756C>A (p.Thr252=) c.4203C>A (p.Thr1401=) c.4263C>A (p.Thr1421=) c.3915C>A (p.Thr1305=) c.3744C>A (p.Thr1248=) c.3630C>A (p.Thr1210=) c.3192C>A (p.Thr1064=) n.4460C>A | |
| 3 | g.47000383C= | CA1362363166 | NBEAL2 | c.4284C= (p.Thr1428=) c.4182C= (p.Thr1394=) c.2147C= c.756C= (p.Thr252=) c.4203C= (p.Thr1401=) c.4263C= (p.Thr1421=) c.3915C= (p.Thr1305=) c.3744C= (p.Thr1248=) c.3630C= (p.Thr1210=) c.3192C= (p.Thr1064=) n.4460C= | |
| 3 | g.47000383C>G | CA433598447 | NBEAL2 | c.4284C>G (p.Thr1428=) c.4182C>G (p.Thr1394=) c.2147C>G c.756C>G (p.Thr252=) c.4203C>G (p.Thr1401=) c.4263C>G (p.Thr1421=) c.3915C>G (p.Thr1305=) c.3744C>G (p.Thr1248=) c.3630C>G (p.Thr1210=) c.3192C>G (p.Thr1064=) n.4460C>G | |
| 3 | g.47000383C>T | CA2361196 | NBEAL2 | c.4284C>T (p.Thr1428=) c.4182C>T (p.Thr1394=) c.2147C>T c.756C>T (p.Thr252=) c.4203C>T (p.Thr1401=) c.4263C>T (p.Thr1421=) c.3915C>T (p.Thr1305=) c.3744C>T (p.Thr1248=) c.3630C>T (p.Thr1210=) c.3192C>T (p.Thr1064=) n.4460C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000384T>A | CA352517337 | NBEAL2 | c.4285T>A (p.Ser1429Thr) c.4183T>A (p.Ser1395Thr) c.2148T>A c.757T>A (p.Ser253Thr) c.4204T>A (p.Ser1402Thr) c.4264T>A (p.Ser1422Thr) c.3916T>A (p.Ser1306Thr) c.3745T>A (p.Ser1249Thr) c.3631T>A (p.Ser1211Thr) c.3193T>A (p.Ser1065Thr) n.4461T>A | |
| 3 | g.47000384T>C | CA352517335 | NBEAL2 | c.4285T>C (p.Ser1429Pro) c.4183T>C (p.Ser1395Pro) c.2148T>C c.757T>C (p.Ser253Pro) c.4204T>C (p.Ser1402Pro) c.4264T>C (p.Ser1422Pro) c.3916T>C (p.Ser1306Pro) c.3745T>C (p.Ser1249Pro) c.3631T>C (p.Ser1211Pro) c.3193T>C (p.Ser1065Pro) n.4461T>C | |
| 3 | g.47000384T>G | CA352517339 | NBEAL2 | c.4285T>G (p.Ser1429Ala) c.4183T>G (p.Ser1395Ala) c.2148T>G c.757T>G (p.Ser253Ala) c.4204T>G (p.Ser1402Ala) c.4264T>G (p.Ser1422Ala) c.3916T>G (p.Ser1306Ala) c.3745T>G (p.Ser1249Ala) c.3631T>G (p.Ser1211Ala) c.3193T>G (p.Ser1065Ala) n.4461T>G | gnomAD v4 |
| 3 | g.47000385C>A | CA352517342 | NBEAL2 | c.4286C>A (p.Ser1429Ter) c.4184C>A (p.Ser1395Ter) c.2149C>A c.758C>A (p.Ser253Ter) c.4205C>A (p.Ser1402Ter) c.4265C>A (p.Ser1422Ter) c.3917C>A (p.Ser1306Ter) c.3746C>A (p.Ser1249Ter) c.3632C>A (p.Ser1211Ter) c.3194C>A (p.Ser1065Ter) n.4462C>A | gnomAD v4 |
| 3 | g.47000385C= | CA1362363167 | NBEAL2 | c.4286C= (p.Ser1429=) c.4184C= (p.Ser1395=) c.2149C= c.758C= (p.Ser253=) c.4205C= (p.Ser1402=) c.4265C= (p.Ser1422=) c.3917C= (p.Ser1306=) c.3746C= (p.Ser1249=) c.3632C= (p.Ser1211=) c.3194C= (p.Ser1065=) n.4462C= | |
| 3 | g.47000385C>G | CA2361197 | NBEAL2 | c.4286C>G (p.Ser1429Trp) c.4184C>G (p.Ser1395Trp) c.2149C>G c.758C>G (p.Ser253Trp) c.4205C>G (p.Ser1402Trp) c.4265C>G (p.Ser1422Trp) c.3917C>G (p.Ser1306Trp) c.3746C>G (p.Ser1249Trp) c.3632C>G (p.Ser1211Trp) c.3194C>G (p.Ser1065Trp) n.4462C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000385C>T | CA2361198 | NBEAL2 | c.4286C>T (p.Ser1429Leu) c.4184C>T (p.Ser1395Leu) c.2149C>T c.758C>T (p.Ser253Leu) c.4205C>T (p.Ser1402Leu) c.4265C>T (p.Ser1422Leu) c.3917C>T (p.Ser1306Leu) c.3746C>T (p.Ser1249Leu) c.3632C>T (p.Ser1211Leu) c.3194C>T (p.Ser1065Leu) n.4462C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000386G>A | CA2361199 | NBEAL2 | c.4287G>A (p.Ser1429=) c.4185G>A (p.Ser1395=) c.2150G>A c.759G>A (p.Ser253=) c.4206G>A (p.Ser1402=) c.4266G>A (p.Ser1422=) c.3918G>A (p.Ser1306=) c.3747G>A (p.Ser1249=) c.3633G>A (p.Ser1211=) c.3195G>A (p.Ser1065=) n.4463G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000386G>C | CA433598448 | NBEAL2 | c.4287G>C (p.Ser1429=) c.4185G>C (p.Ser1395=) c.2150G>C c.759G>C (p.Ser253=) c.4206G>C (p.Ser1402=) c.4266G>C (p.Ser1422=) c.3918G>C (p.Ser1306=) c.3747G>C (p.Ser1249=) c.3633G>C (p.Ser1211=) c.3195G>C (p.Ser1065=) n.4463G>C | |
| 3 | g.47000386G= | CA1362363168 | NBEAL2 | c.4287G= (p.Ser1429=) c.4185G= (p.Ser1395=) c.2150G= c.759G= (p.Ser253=) c.4206G= (p.Ser1402=) c.4266G= (p.Ser1422=) c.3918G= (p.Ser1306=) c.3747G= (p.Ser1249=) c.3633G= (p.Ser1211=) c.3195G= (p.Ser1065=) n.4463G= | |
| 3 | g.47000386G>T | CA433598449 | NBEAL2 | c.4287G>T (p.Ser1429=) c.4185G>T (p.Ser1395=) c.2150G>T c.759G>T (p.Ser253=) c.4206G>T (p.Ser1402=) c.4266G>T (p.Ser1422=) c.3918G>T (p.Ser1306=) c.3747G>T (p.Ser1249=) c.3633G>T (p.Ser1211=) c.3195G>T (p.Ser1065=) n.4463G>T | gnomAD v4 |
| 3 | g.47000387A= | CA1362363169 | NBEAL2 | c.4288A= (p.Asn1430=) c.4186A= (p.Asn1396=) c.2151A= c.760A= (p.Asn254=) c.4207A= (p.Asn1403=) c.4267A= (p.Asn1423=) c.3919A= (p.Asn1307=) c.3748A= (p.Asn1250=) c.3634A= (p.Asn1212=) c.3196A= (p.Asn1066=) n.4464A= | |
| 3 | g.47000387A>C | CA352517348 | NBEAL2 | c.4288A>C (p.Asn1430His) c.4186A>C (p.Asn1396His) c.2151A>C c.760A>C (p.Asn254His) c.4207A>C (p.Asn1403His) c.4267A>C (p.Asn1423His) c.3919A>C (p.Asn1307His) c.3748A>C (p.Asn1250His) c.3634A>C (p.Asn1212His) c.3196A>C (p.Asn1066His) n.4464A>C | |
| 3 | g.47000387A>G | CA352517350 | NBEAL2 | c.4288A>G (p.Asn1430Asp) c.4186A>G (p.Asn1396Asp) c.2151A>G c.760A>G (p.Asn254Asp) c.4207A>G (p.Asn1403Asp) c.4267A>G (p.Asn1423Asp) c.3919A>G (p.Asn1307Asp) c.3748A>G (p.Asn1250Asp) c.3634A>G (p.Asn1212Asp) c.3196A>G (p.Asn1066Asp) n.4464A>G | dbSNP gnomAD v4 |
| 3 | g.47000387A>T | CA352517352 | NBEAL2 | c.4288A>T (p.Asn1430Tyr) c.4186A>T (p.Asn1396Tyr) c.2151A>T c.760A>T (p.Asn254Tyr) c.4207A>T (p.Asn1403Tyr) c.4267A>T (p.Asn1423Tyr) c.3919A>T (p.Asn1307Tyr) c.3748A>T (p.Asn1250Tyr) c.3634A>T (p.Asn1212Tyr) c.3196A>T (p.Asn1066Tyr) n.4464A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47000388A>C | CA352517355 | NBEAL2 | c.4289A>C (p.Asn1430Thr) c.4187A>C (p.Asn1396Thr) c.2152A>C c.761A>C (p.Asn254Thr) c.4208A>C (p.Asn1403Thr) c.4268A>C (p.Asn1423Thr) c.3920A>C (p.Asn1307Thr) c.3749A>C (p.Asn1250Thr) c.3635A>C (p.Asn1212Thr) c.3197A>C (p.Asn1066Thr) n.4465A>C | |
| 3 | g.47000388A>G | CA352517357 | NBEAL2 | c.4289A>G (p.Asn1430Ser) c.4187A>G (p.Asn1396Ser) c.2152A>G c.761A>G (p.Asn254Ser) c.4208A>G (p.Asn1403Ser) c.4268A>G (p.Asn1423Ser) c.3920A>G (p.Asn1307Ser) c.3749A>G (p.Asn1250Ser) c.3635A>G (p.Asn1212Ser) c.3197A>G (p.Asn1066Ser) n.4465A>G | |
| 3 | g.47000388A>T | CA352517359 | NBEAL2 | c.4289A>T (p.Asn1430Ile) c.4187A>T (p.Asn1396Ile) c.2152A>T c.761A>T (p.Asn254Ile) c.4208A>T (p.Asn1403Ile) c.4268A>T (p.Asn1423Ile) c.3920A>T (p.Asn1307Ile) c.3749A>T (p.Asn1250Ile) c.3635A>T (p.Asn1212Ile) c.3197A>T (p.Asn1066Ile) n.4465A>T | |
| 3 | g.47000389C>A | CA352517362 | NBEAL2 | c.4290C>A (p.Asn1430Lys) c.4188C>A (p.Asn1396Lys) c.2153C>A c.762C>A (p.Asn254Lys) c.4209C>A (p.Asn1403Lys) c.4269C>A (p.Asn1423Lys) c.3921C>A (p.Asn1307Lys) c.3750C>A (p.Asn1250Lys) c.3636C>A (p.Asn1212Lys) c.3198C>A (p.Asn1066Lys) n.4466C>A | |
| 3 | g.47000389C>G | CA352517364 | NBEAL2 | c.4290C>G (p.Asn1430Lys) c.4188C>G (p.Asn1396Lys) c.2153C>G c.762C>G (p.Asn254Lys) c.4209C>G (p.Asn1403Lys) c.4269C>G (p.Asn1423Lys) c.3921C>G (p.Asn1307Lys) c.3750C>G (p.Asn1250Lys) c.3636C>G (p.Asn1212Lys) c.3198C>G (p.Asn1066Lys) n.4466C>G | |
| 3 | g.47000389C>T | CA433598450 | NBEAL2 | c.4290C>T (p.Asn1430=) c.4188C>T (p.Asn1396=) c.2153C>T c.762C>T (p.Asn254=) c.4209C>T (p.Asn1403=) c.4269C>T (p.Asn1423=) c.3921C>T (p.Asn1307=) c.3750C>T (p.Asn1250=) c.3636C>T (p.Asn1212=) c.3198C>T (p.Asn1066=) n.4466C>T | |
| 3 | g.47000390A>C | CA352517367 | NBEAL2 | c.4291A>C (p.Thr1431Pro) c.4189A>C (p.Thr1397Pro) c.2154A>C c.763A>C (p.Thr255Pro) c.4210A>C (p.Thr1404Pro) c.4270A>C (p.Thr1424Pro) c.3922A>C (p.Thr1308Pro) c.3751A>C (p.Thr1251Pro) c.3637A>C (p.Thr1213Pro) c.3199A>C (p.Thr1067Pro) n.4467A>C | |
| 3 | g.47000390A>G | CA352517369 | NBEAL2 | c.4291A>G (p.Thr1431Ala) c.4189A>G (p.Thr1397Ala) c.2154A>G c.763A>G (p.Thr255Ala) c.4210A>G (p.Thr1404Ala) c.4270A>G (p.Thr1424Ala) c.3922A>G (p.Thr1308Ala) c.3751A>G (p.Thr1251Ala) c.3637A>G (p.Thr1213Ala) c.3199A>G (p.Thr1067Ala) n.4467A>G | gnomAD v4 |
| 3 | g.47000390A>T | CA352517371 | NBEAL2 | c.4291A>T (p.Thr1431Ser) c.4189A>T (p.Thr1397Ser) c.2154A>T c.763A>T (p.Thr255Ser) c.4210A>T (p.Thr1404Ser) c.4270A>T (p.Thr1424Ser) c.3922A>T (p.Thr1308Ser) c.3751A>T (p.Thr1251Ser) c.3637A>T (p.Thr1213Ser) c.3199A>T (p.Thr1067Ser) n.4467A>T | |
| 3 | g.47000391C>A | CA352517377 | NBEAL2 | c.4292C>A (p.Thr1431Asn) c.4190C>A (p.Thr1397Asn) c.2155C>A c.764C>A (p.Thr255Asn) c.4211C>A (p.Thr1404Asn) c.4271C>A (p.Thr1424Asn) c.3923C>A (p.Thr1308Asn) c.3752C>A (p.Thr1251Asn) c.3638C>A (p.Thr1213Asn) c.3200C>A (p.Thr1067Asn) n.4468C>A | |
| 3 | g.47000391C>G | CA352517373 | NBEAL2 | c.4292C>G (p.Thr1431Ser) c.4190C>G (p.Thr1397Ser) c.2155C>G c.764C>G (p.Thr255Ser) c.4211C>G (p.Thr1404Ser) c.4271C>G (p.Thr1424Ser) c.3923C>G (p.Thr1308Ser) c.3752C>G (p.Thr1251Ser) c.3638C>G (p.Thr1213Ser) c.3200C>G (p.Thr1067Ser) n.4468C>G | |
| 3 | g.47000391C>T | CA352517375 | NBEAL2 | c.4292C>T (p.Thr1431Ile) c.4190C>T (p.Thr1397Ile) c.2155C>T c.764C>T (p.Thr255Ile) c.4211C>T (p.Thr1404Ile) c.4271C>T (p.Thr1424Ile) c.3923C>T (p.Thr1308Ile) c.3752C>T (p.Thr1251Ile) c.3638C>T (p.Thr1213Ile) c.3200C>T (p.Thr1067Ile) n.4468C>T | gnomAD v4 |
| 3 | g.47000391_47000400dup | CA2665493334 | NBEAL2 | c.4292_4301dup (p.Thr1437ProfsTer6) c.4190_4199dup (p.Thr1403ProfsTer6) c.2155_2164dup c.764_773dup (p.Thr261ProfsTer6) c.4211_4220dup (p.Thr1410ProfsTer6) c.4271_4280dup (p.Thr1430ProfsTer6) c.3923_3932dup (p.Thr1314ProfsTer6) c.3752_3761dup (p.Thr1257ProfsTer6) c.3638_3647dup (p.Thr1219ProfsTer6) c.3200_3209dup (p.Thr1073ProfsTer6) n.4468_4477dup | gnomAD v4 |
| 3 | g.47000392C>A | CA433598451 | NBEAL2 | c.4293C>A (p.Thr1431=) c.4191C>A (p.Thr1397=) c.2156C>A c.765C>A (p.Thr255=) c.4212C>A (p.Thr1404=) c.4272C>A (p.Thr1424=) c.3924C>A (p.Thr1308=) c.3753C>A (p.Thr1251=) c.3639C>A (p.Thr1213=) c.3201C>A (p.Thr1067=) n.4469C>A | gnomAD v4 |
| 3 | g.47000392C= | CA1362363170 | NBEAL2 | c.4293C= (p.Thr1431=) c.4191C= (p.Thr1397=) c.2156C= c.765C= (p.Thr255=) c.4212C= (p.Thr1404=) c.4272C= (p.Thr1424=) c.3924C= (p.Thr1308=) c.3753C= (p.Thr1251=) c.3639C= (p.Thr1213=) c.3201C= (p.Thr1067=) n.4469C= | |
| 3 | g.47000392C>G | CA433598452 | NBEAL2 | c.4293C>G (p.Thr1431=) c.4191C>G (p.Thr1397=) c.2156C>G c.765C>G (p.Thr255=) c.4212C>G (p.Thr1404=) c.4272C>G (p.Thr1424=) c.3924C>G (p.Thr1308=) c.3753C>G (p.Thr1251=) c.3639C>G (p.Thr1213=) c.3201C>G (p.Thr1067=) n.4469C>G | |
| 3 | g.47000392C>T | CA433598453 | NBEAL2 | c.4293C>T (p.Thr1431=) c.4191C>T (p.Thr1397=) c.2156C>T c.765C>T (p.Thr255=) c.4212C>T (p.Thr1404=) c.4272C>T (p.Thr1424=) c.3924C>T (p.Thr1308=) c.3753C>T (p.Thr1251=) c.3639C>T (p.Thr1213=) c.3201C>T (p.Thr1067=) n.4469C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47000393A= | CA1362363171 | NBEAL2 | c.4294A= (p.Ser1432=) c.4192A= (p.Ser1398=) c.2157A= c.766A= (p.Ser256=) c.4213A= (p.Ser1405=) c.4273A= (p.Ser1425=) c.3925A= (p.Ser1309=) c.3754A= (p.Ser1252=) c.3640A= (p.Ser1214=) c.3202A= (p.Ser1068=) n.4470A= | |
| 3 | g.47000393A>C | CA352517379 | NBEAL2 | c.4294A>C (p.Ser1432Arg) c.4192A>C (p.Ser1398Arg) c.2157A>C c.766A>C (p.Ser256Arg) c.4213A>C (p.Ser1405Arg) c.4273A>C (p.Ser1425Arg) c.3925A>C (p.Ser1309Arg) c.3754A>C (p.Ser1252Arg) c.3640A>C (p.Ser1214Arg) c.3202A>C (p.Ser1068Arg) n.4470A>C | gnomAD v4 |
| 3 | g.47000393A>G | CA352517381 | NBEAL2 | c.4294A>G (p.Ser1432Gly) c.4192A>G (p.Ser1398Gly) c.2157A>G c.766A>G (p.Ser256Gly) c.4213A>G (p.Ser1405Gly) c.4273A>G (p.Ser1425Gly) c.3925A>G (p.Ser1309Gly) c.3754A>G (p.Ser1252Gly) c.3640A>G (p.Ser1214Gly) c.3202A>G (p.Ser1068Gly) n.4470A>G | |
| 3 | g.47000393A>T | CA2361200 | NBEAL2 | c.4294A>T (p.Ser1432Cys) c.4192A>T (p.Ser1398Cys) c.2157A>T c.766A>T (p.Ser256Cys) c.4213A>T (p.Ser1405Cys) c.4273A>T (p.Ser1425Cys) c.3925A>T (p.Ser1309Cys) c.3754A>T (p.Ser1252Cys) c.3640A>T (p.Ser1214Cys) c.3202A>T (p.Ser1068Cys) n.4470A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000394G>A | CA352517385 | NBEAL2 | c.4295G>A (p.Ser1432Asn) c.4193G>A (p.Ser1398Asn) c.2158G>A c.767G>A (p.Ser256Asn) c.4214G>A (p.Ser1405Asn) c.4274G>A (p.Ser1425Asn) c.3926G>A (p.Ser1309Asn) c.3755G>A (p.Ser1252Asn) c.3641G>A (p.Ser1214Asn) c.3203G>A (p.Ser1068Asn) n.4471G>A | |
| 3 | g.47000394G>C | CA352517387 | NBEAL2 | c.4295G>C (p.Ser1432Thr) c.4193G>C (p.Ser1398Thr) c.2158G>C c.767G>C (p.Ser256Thr) c.4214G>C (p.Ser1405Thr) c.4274G>C (p.Ser1425Thr) c.3926G>C (p.Ser1309Thr) c.3755G>C (p.Ser1252Thr) c.3641G>C (p.Ser1214Thr) c.3203G>C (p.Ser1068Thr) n.4471G>C | |
| 3 | g.47000394G>T | CA352517389 | NBEAL2 | c.4295G>T (p.Ser1432Ile) c.4193G>T (p.Ser1398Ile) c.2158G>T c.767G>T (p.Ser256Ile) c.4214G>T (p.Ser1405Ile) c.4274G>T (p.Ser1425Ile) c.3926G>T (p.Ser1309Ile) c.3755G>T (p.Ser1252Ile) c.3641G>T (p.Ser1214Ile) c.3203G>T (p.Ser1068Ile) n.4471G>T | |
| 3 | g.47000395C>A | CA352517392 | NBEAL2 | c.4296C>A (p.Ser1432Arg) c.4194C>A (p.Ser1398Arg) c.2159C>A c.768C>A (p.Ser256Arg) c.4215C>A (p.Ser1405Arg) c.4275C>A (p.Ser1425Arg) c.3927C>A (p.Ser1309Arg) c.3756C>A (p.Ser1252Arg) c.3642C>A (p.Ser1214Arg) c.3204C>A (p.Ser1068Arg) n.4472C>A | |
| 3 | g.47000395C>G | CA352517394 | NBEAL2 | c.4296C>G (p.Ser1432Arg) c.4194C>G (p.Ser1398Arg) c.2159C>G c.768C>G (p.Ser256Arg) c.4215C>G (p.Ser1405Arg) c.4275C>G (p.Ser1425Arg) c.3927C>G (p.Ser1309Arg) c.3756C>G (p.Ser1252Arg) c.3642C>G (p.Ser1214Arg) c.3204C>G (p.Ser1068Arg) n.4472C>G | |
| 3 | g.47000395C>T | CA433598454 | NBEAL2 | c.4296C>T (p.Ser1432=) c.4194C>T (p.Ser1398=) c.2159C>T c.768C>T (p.Ser256=) c.4215C>T (p.Ser1405=) c.4275C>T (p.Ser1425=) c.3927C>T (p.Ser1309=) c.3756C>T (p.Ser1252=) c.3642C>T (p.Ser1214=) c.3204C>T (p.Ser1068=) n.4472C>T | |
| 3 | g.47000396A>C | CA352517397 | NBEAL2 | c.4297A>C (p.Asn1433His) c.4195A>C (p.Asn1399His) c.2160A>C c.769A>C (p.Asn257His) c.4216A>C (p.Asn1406His) c.4276A>C (p.Asn1426His) c.3928A>C (p.Asn1310His) c.3757A>C (p.Asn1253His) c.3643A>C (p.Asn1215His) c.3205A>C (p.Asn1069His) n.4473A>C | |
| 3 | g.47000396A>G | CA352517399 | NBEAL2 | c.4297A>G (p.Asn1433Asp) c.4195A>G (p.Asn1399Asp) c.2160A>G c.769A>G (p.Asn257Asp) c.4216A>G (p.Asn1406Asp) c.4276A>G (p.Asn1426Asp) c.3928A>G (p.Asn1310Asp) c.3757A>G (p.Asn1253Asp) c.3643A>G (p.Asn1215Asp) c.3205A>G (p.Asn1069Asp) n.4473A>G | |
| 3 | g.47000396A>T | CA352517401 | NBEAL2 | c.4297A>T (p.Asn1433Tyr) c.4195A>T (p.Asn1399Tyr) c.2160A>T c.769A>T (p.Asn257Tyr) c.4216A>T (p.Asn1406Tyr) c.4276A>T (p.Asn1426Tyr) c.3928A>T (p.Asn1310Tyr) c.3757A>T (p.Asn1253Tyr) c.3643A>T (p.Asn1215Tyr) c.3205A>T (p.Asn1069Tyr) n.4473A>T | |
| 3 | g.47000397A>C | CA352517408 | NBEAL2 | c.4298A>C (p.Asn1433Thr) c.4196A>C (p.Asn1399Thr) c.2161A>C c.770A>C (p.Asn257Thr) c.4217A>C (p.Asn1406Thr) c.4277A>C (p.Asn1426Thr) c.3929A>C (p.Asn1310Thr) c.3758A>C (p.Asn1253Thr) c.3644A>C (p.Asn1215Thr) c.3206A>C (p.Asn1069Thr) n.4474A>C | |
| 3 | g.47000397A>G | CA352517406 | NBEAL2 | c.4298A>G (p.Asn1433Ser) c.4196A>G (p.Asn1399Ser) c.2161A>G c.770A>G (p.Asn257Ser) c.4217A>G (p.Asn1406Ser) c.4277A>G (p.Asn1426Ser) c.3929A>G (p.Asn1310Ser) c.3758A>G (p.Asn1253Ser) c.3644A>G (p.Asn1215Ser) c.3206A>G (p.Asn1069Ser) n.4474A>G | |
| 3 | g.47000397A>T | CA352517404 | NBEAL2 | c.4298A>T (p.Asn1433Ile) c.4196A>T (p.Asn1399Ile) c.2161A>T c.770A>T (p.Asn257Ile) c.4217A>T (p.Asn1406Ile) c.4277A>T (p.Asn1426Ile) c.3929A>T (p.Asn1310Ile) c.3758A>T (p.Asn1253Ile) c.3644A>T (p.Asn1215Ile) c.3206A>T (p.Asn1069Ile) n.4474A>T | |
| 3 | g.47000398C>A | CA352517410 | NBEAL2 | c.4299C>A (p.Asn1433Lys) c.4197C>A (p.Asn1399Lys) c.2162C>A c.771C>A (p.Asn257Lys) c.4218C>A (p.Asn1406Lys) c.4278C>A (p.Asn1426Lys) c.3930C>A (p.Asn1310Lys) c.3759C>A (p.Asn1253Lys) c.3645C>A (p.Asn1215Lys) c.3207C>A (p.Asn1069Lys) n.4475C>A | gnomAD v4 |
| 3 | g.47000398C>G | CA352517412 | NBEAL2 | c.4299C>G (p.Asn1433Lys) c.4197C>G (p.Asn1399Lys) c.2162C>G c.771C>G (p.Asn257Lys) c.4218C>G (p.Asn1406Lys) c.4278C>G (p.Asn1426Lys) c.3930C>G (p.Asn1310Lys) c.3759C>G (p.Asn1253Lys) c.3645C>G (p.Asn1215Lys) c.3207C>G (p.Asn1069Lys) n.4475C>G | gnomAD v4 |
| 3 | g.47000398C>T | CA433598455 | NBEAL2 | c.4299C>T (p.Asn1433=) c.4197C>T (p.Asn1399=) c.2162C>T c.771C>T (p.Asn257=) c.4218C>T (p.Asn1406=) c.4278C>T (p.Asn1426=) c.3930C>T (p.Asn1310=) c.3759C>T (p.Asn1253=) c.3645C>T (p.Asn1215=) c.3207C>T (p.Asn1069=) n.4475C>T | |
| 3 | g.47000399C>A | CA2361201 | NBEAL2 | c.4300C>A (p.Pro1434Thr) c.4198C>A (p.Pro1400Thr) c.2163C>A c.772C>A (p.Pro258Thr) c.4219C>A (p.Pro1407Thr) c.4279C>A (p.Pro1427Thr) c.3931C>A (p.Pro1311Thr) c.3760C>A (p.Pro1254Thr) c.3646C>A (p.Pro1216Thr) c.3208C>A (p.Pro1070Thr) n.4476C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000399C= | CA1362363172 | NBEAL2 | c.4300C= (p.Pro1434=) c.4198C= (p.Pro1400=) c.2163C= c.772C= (p.Pro258=) c.4219C= (p.Pro1407=) c.4279C= (p.Pro1427=) c.3931C= (p.Pro1311=) c.3760C= (p.Pro1254=) c.3646C= (p.Pro1216=) c.3208C= (p.Pro1070=) n.4476C= | |
| 3 | g.47000399C>G | CA352517416 | NBEAL2 | c.4300C>G (p.Pro1434Ala) c.4198C>G (p.Pro1400Ala) c.2163C>G c.772C>G (p.Pro258Ala) c.4219C>G (p.Pro1407Ala) c.4279C>G (p.Pro1427Ala) c.3931C>G (p.Pro1311Ala) c.3760C>G (p.Pro1254Ala) c.3646C>G (p.Pro1216Ala) c.3208C>G (p.Pro1070Ala) n.4476C>G | gnomAD v4 |
| 3 | g.47000399C>T | CA352517419 | NBEAL2 | c.4300C>T (p.Pro1434Ser) c.4198C>T (p.Pro1400Ser) c.2163C>T c.772C>T (p.Pro258Ser) c.4219C>T (p.Pro1407Ser) c.4279C>T (p.Pro1427Ser) c.3931C>T (p.Pro1311Ser) c.3760C>T (p.Pro1254Ser) c.3646C>T (p.Pro1216Ser) c.3208C>T (p.Pro1070Ser) n.4476C>T | |
| 3 | g.47000400C>A | CA352517422 | NBEAL2 | c.4301C>A (p.Pro1434Gln) c.4199C>A (p.Pro1400Gln) c.2164C>A c.773C>A (p.Pro258Gln) c.4220C>A (p.Pro1407Gln) c.4280C>A (p.Pro1427Gln) c.3932C>A (p.Pro1311Gln) c.3761C>A (p.Pro1254Gln) c.3647C>A (p.Pro1216Gln) c.3209C>A (p.Pro1070Gln) n.4477C>A | |
| 3 | g.47000400C>G | CA352517423 | NBEAL2 | c.4301C>G (p.Pro1434Arg) c.4199C>G (p.Pro1400Arg) c.2164C>G c.773C>G (p.Pro258Arg) c.4220C>G (p.Pro1407Arg) c.4280C>G (p.Pro1427Arg) c.3932C>G (p.Pro1311Arg) c.3761C>G (p.Pro1254Arg) c.3647C>G (p.Pro1216Arg) c.3209C>G (p.Pro1070Arg) n.4477C>G | |
| 3 | g.47000400C>T | CA352517425 | NBEAL2 | c.4301C>T (p.Pro1434Leu) c.4199C>T (p.Pro1400Leu) c.2164C>T c.773C>T (p.Pro258Leu) c.4220C>T (p.Pro1407Leu) c.4280C>T (p.Pro1427Leu) c.3932C>T (p.Pro1311Leu) c.3761C>T (p.Pro1254Leu) c.3647C>T (p.Pro1216Leu) c.3209C>T (p.Pro1070Leu) n.4477C>T | |
| 3 | g.47000401A= | CA1362363173 | NBEAL2 | c.4302A= (p.Pro1434=) c.4200A= (p.Pro1400=) c.2165A= c.774A= (p.Pro258=) c.4221A= (p.Pro1407=) c.4281A= (p.Pro1427=) c.3933A= (p.Pro1311=) c.3762A= (p.Pro1254=) c.3648A= (p.Pro1216=) c.3210A= (p.Pro1070=) n.4478A= | |
| 3 | g.47000401A>C | CA433598457 | NBEAL2 | c.4302A>C (p.Pro1434=) c.4200A>C (p.Pro1400=) c.2165A>C c.774A>C (p.Pro258=) c.4221A>C (p.Pro1407=) c.4281A>C (p.Pro1427=) c.3933A>C (p.Pro1311=) c.3762A>C (p.Pro1254=) c.3648A>C (p.Pro1216=) c.3210A>C (p.Pro1070=) n.4478A>C | |
| 3 | g.47000401A>G | CA2361202 | NBEAL2 | c.4302A>G (p.Pro1434=) c.4200A>G (p.Pro1400=) c.2165A>G c.774A>G (p.Pro258=) c.4221A>G (p.Pro1407=) c.4281A>G (p.Pro1427=) c.3933A>G (p.Pro1311=) c.3762A>G (p.Pro1254=) c.3648A>G (p.Pro1216=) c.3210A>G (p.Pro1070=) n.4478A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000401A>T | CA433598456 | NBEAL2 | c.4302A>T (p.Pro1434=) c.4200A>T (p.Pro1400=) c.2165A>T c.774A>T (p.Pro258=) c.4221A>T (p.Pro1407=) c.4281A>T (p.Pro1427=) c.3933A>T (p.Pro1311=) c.3762A>T (p.Pro1254=) c.3648A>T (p.Pro1216=) c.3210A>T (p.Pro1070=) n.4478A>T | |
| 3 | g.47000402C>A | CA352517427 | NBEAL2 | c.4303C>A (p.Gln1435Lys) c.4201C>A (p.Gln1401Lys) c.2166C>A c.775C>A (p.Gln259Lys) c.4222C>A (p.Gln1408Lys) c.4282C>A (p.Gln1428Lys) c.3934C>A (p.Gln1312Lys) c.3763C>A (p.Gln1255Lys) c.3649C>A (p.Gln1217Lys) c.3211C>A (p.Gln1071Lys) n.4479C>A | |
| 3 | g.47000402C>G | CA352517429 | NBEAL2 | c.4303C>G (p.Gln1435Glu) c.4201C>G (p.Gln1401Glu) c.2166C>G c.775C>G (p.Gln259Glu) c.4222C>G (p.Gln1408Glu) c.4282C>G (p.Gln1428Glu) c.3934C>G (p.Gln1312Glu) c.3763C>G (p.Gln1255Glu) c.3649C>G (p.Gln1217Glu) c.3211C>G (p.Gln1071Glu) n.4479C>G | |
| 3 | g.47000402C>T | CA352517431 | NBEAL2 | c.4303C>T (p.Gln1435Ter) c.4201C>T (p.Gln1401Ter) c.2166C>T c.775C>T (p.Gln259Ter) c.4222C>T (p.Gln1408Ter) c.4282C>T (p.Gln1428Ter) c.3934C>T (p.Gln1312Ter) c.3763C>T (p.Gln1255Ter) c.3649C>T (p.Gln1217Ter) c.3211C>T (p.Gln1071Ter) n.4479C>T | gnomAD v4 |
| 3 | g.47000403A>C | CA352517438 | NBEAL2 | c.4304A>C (p.Gln1435Pro) c.4202A>C (p.Gln1401Pro) c.2167A>C c.776A>C (p.Gln259Pro) c.4223A>C (p.Gln1408Pro) c.4283A>C (p.Gln1428Pro) c.3935A>C (p.Gln1312Pro) c.3764A>C (p.Gln1255Pro) c.3650A>C (p.Gln1217Pro) c.3212A>C (p.Gln1071Pro) n.4480A>C | |
| 3 | g.47000403A>G | CA352517436 | NBEAL2 | c.4304A>G (p.Gln1435Arg) c.4202A>G (p.Gln1401Arg) c.2167A>G c.776A>G (p.Gln259Arg) c.4223A>G (p.Gln1408Arg) c.4283A>G (p.Gln1428Arg) c.3935A>G (p.Gln1312Arg) c.3764A>G (p.Gln1255Arg) c.3650A>G (p.Gln1217Arg) c.3212A>G (p.Gln1071Arg) n.4480A>G | gnomAD v4 |
| 3 | g.47000403A>T | CA352517434 | NBEAL2 | c.4304A>T (p.Gln1435Leu) c.4202A>T (p.Gln1401Leu) c.2167A>T c.776A>T (p.Gln259Leu) c.4223A>T (p.Gln1408Leu) c.4283A>T (p.Gln1428Leu) c.3935A>T (p.Gln1312Leu) c.3764A>T (p.Gln1255Leu) c.3650A>T (p.Gln1217Leu) c.3212A>T (p.Gln1071Leu) n.4480A>T | |
| 3 | g.47000404G>A | CA433598458 | NBEAL2 | c.4305G>A (p.Gln1435=) c.4203G>A (p.Gln1401=) c.2168G>A c.777G>A (p.Gln259=) c.4224G>A (p.Gln1408=) c.4284G>A (p.Gln1428=) c.3936G>A (p.Gln1312=) c.3765G>A (p.Gln1255=) c.3651G>A (p.Gln1217=) c.3213G>A (p.Gln1071=) n.4481G>A | gnomAD v4 |
| 3 | g.47000404G>C | CA352517441 | NBEAL2 | c.4305G>C (p.Gln1435His) c.4203G>C (p.Gln1401His) c.2168G>C c.777G>C (p.Gln259His) c.4224G>C (p.Gln1408His) c.4284G>C (p.Gln1428His) c.3936G>C (p.Gln1312His) c.3765G>C (p.Gln1255His) c.3651G>C (p.Gln1217His) c.3213G>C (p.Gln1071His) n.4481G>C | |
| 3 | g.47000404G>T | CA352517443 | NBEAL2 | c.4305G>T (p.Gln1435His) c.4203G>T (p.Gln1401His) c.2168G>T c.777G>T (p.Gln259His) c.4224G>T (p.Gln1408His) c.4284G>T (p.Gln1428His) c.3936G>T (p.Gln1312His) c.3765G>T (p.Gln1255His) c.3651G>T (p.Gln1217His) c.3213G>T (p.Gln1071His) n.4481G>T | |
| 3 | g.47000405G>A | CA352517446 | NBEAL2 | c.4305+1G>A (n.4305+1G>A) c.4203+1G>A (n.4203+1G>A) c.2168+1G>A c.777+1G>A (n.777+1G>A) c.4224+1G>A (n.4224+1G>A) c.4284+1G>A (n.4284+1G>A) c.3936+1G>A (n.3936+1G>A) c.3765+1G>A (n.3765+1G>A) c.3651+1G>A (n.3651+1G>A) c.3213+1G>A (n.3213+1G>A) n.4481+1G>A | |
| 3 | g.47000405G>C | CA352517448 | NBEAL2 | c.4305+1G>C (n.4305+1G>C) c.4203+1G>C (n.4203+1G>C) c.2168+1G>C c.777+1G>C (n.777+1G>C) c.4224+1G>C (n.4224+1G>C) c.4284+1G>C (n.4284+1G>C) c.3936+1G>C (n.3936+1G>C) c.3765+1G>C (n.3765+1G>C) c.3651+1G>C (n.3651+1G>C) c.3213+1G>C (n.3213+1G>C) n.4481+1G>C | |
| 3 | g.47000405G>T | CA352517449 | NBEAL2 | c.4305+1G>T (n.4305+1G>T) c.4203+1G>T (n.4203+1G>T) c.2168+1G>T c.777+1G>T (n.777+1G>T) c.4224+1G>T (n.4224+1G>T) c.4284+1G>T (n.4284+1G>T) c.3936+1G>T (n.3936+1G>T) c.3765+1G>T (n.3765+1G>T) c.3651+1G>T (n.3651+1G>T) c.3213+1G>T (n.3213+1G>T) n.4481+1G>T | |
| 3 | g.47000406T>A | CA352517452 | NBEAL2 | c.4305+2T>A (n.4305+2T>A) c.4203+2T>A (n.4203+2T>A) c.2168+2T>A c.777+2T>A (n.777+2T>A) c.4224+2T>A (n.4224+2T>A) c.4284+2T>A (n.4284+2T>A) c.3936+2T>A (n.3936+2T>A) c.3765+2T>A (n.3765+2T>A) c.3651+2T>A (n.3651+2T>A) c.3213+2T>A (n.3213+2T>A) n.4481+2T>A | |
| 3 | g.47000406T>C | CA352517454 | NBEAL2 | c.4305+2T>C (n.4305+2T>C) c.4203+2T>C (n.4203+2T>C) c.2168+2T>C c.777+2T>C (n.777+2T>C) c.4224+2T>C (n.4224+2T>C) c.4284+2T>C (n.4284+2T>C) c.3936+2T>C (n.3936+2T>C) c.3765+2T>C (n.3765+2T>C) c.3651+2T>C (n.3651+2T>C) c.3213+2T>C (n.3213+2T>C) n.4481+2T>C | |
| 3 | g.47000406T>G | CA352517456 | NBEAL2 | c.4305+2T>G (n.4305+2T>G) c.4203+2T>G (n.4203+2T>G) c.2168+2T>G c.777+2T>G (n.777+2T>G) c.4224+2T>G (n.4224+2T>G) c.4284+2T>G (n.4284+2T>G) c.3936+2T>G (n.3936+2T>G) c.3765+2T>G (n.3765+2T>G) c.3651+2T>G (n.3651+2T>G) c.3213+2T>G (n.3213+2T>G) n.4481+2T>G | |
| 3 | g.47000410G>A | CA2577577261 | NBEAL2 | c.4305+6G>A (n.4305+6G>A) c.4203+6G>A (n.4203+6G>A) c.2168+6G>A c.777+6G>A (n.777+6G>A) c.4224+6G>A (n.4224+6G>A) c.4284+6G>A (n.4284+6G>A) c.3936+6G>A (n.3936+6G>A) c.3765+6G>A (n.3765+6G>A) c.3651+6G>A (n.3651+6G>A) c.3213+6G>A (n.3213+6G>A) n.4481+6G>A | gnomAD v4 |
| 3 | g.47000410G>C | CA2361203 | NBEAL2 | c.4305+6G>C (n.4305+6G>C) c.4203+6G>C (n.4203+6G>C) c.2168+6G>C c.777+6G>C (n.777+6G>C) c.4224+6G>C (n.4224+6G>C) c.4284+6G>C (n.4284+6G>C) c.3936+6G>C (n.3936+6G>C) c.3765+6G>C (n.3765+6G>C) c.3651+6G>C (n.3651+6G>C) c.3213+6G>C (n.3213+6G>C) n.4481+6G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000410G= | CA1362363174 | NBEAL2 | c.4305+6G= (n.4305+6G=) c.4203+6G= (n.4203+6G=) c.2168+6G= c.777+6G= (n.777+6G=) c.4224+6G= (n.4224+6G=) c.4284+6G= (n.4284+6G=) c.3936+6G= (n.3936+6G=) c.3765+6G= (n.3765+6G=) c.3651+6G= (n.3651+6G=) c.3213+6G= (n.3213+6G=) n.4481+6G= | |
| 3 | g.47000411T>G | CA1362363176 | NBEAL2 | c.4305+7T>G (n.4305+7T>G) c.4203+7T>G (n.4203+7T>G) c.2168+7T>G c.777+7T>G (n.777+7T>G) c.4224+7T>G (n.4224+7T>G) c.4284+7T>G (n.4284+7T>G) c.3936+7T>G (n.3936+7T>G) c.3765+7T>G (n.3765+7T>G) c.3651+7T>G (n.3651+7T>G) c.3213+7T>G (n.3213+7T>G) n.4481+7T>G | dbSNP |
| 3 | g.47000411T= | CA1362363175 | NBEAL2 | c.4305+7T= (n.4305+7T=) c.4203+7T= (n.4203+7T=) c.2168+7T= c.777+7T= (n.777+7T=) c.4224+7T= (n.4224+7T=) c.4284+7T= (n.4284+7T=) c.3936+7T= (n.3936+7T=) c.3765+7T= (n.3765+7T=) c.3651+7T= (n.3651+7T=) c.3213+7T= (n.3213+7T=) n.4481+7T= | |
| 3 | g.47000413G>A | CA907615420 | NBEAL2 | c.4305+9G>A (n.4305+9G>A) c.4203+9G>A (n.4203+9G>A) c.2168+9G>A c.777+9G>A (n.777+9G>A) c.4224+9G>A (n.4224+9G>A) c.4284+9G>A (n.4284+9G>A) c.3936+9G>A (n.3936+9G>A) c.3765+9G>A (n.3765+9G>A) c.3651+9G>A (n.3651+9G>A) c.3213+9G>A (n.3213+9G>A) n.4481+9G>A | dbSNP |
| 3 | g.47000413G= | CA1362363177 | NBEAL2 | c.4305+9G= (n.4305+9G=) c.4203+9G= (n.4203+9G=) c.2168+9G= c.777+9G= (n.777+9G=) c.4224+9G= (n.4224+9G=) c.4284+9G= (n.4284+9G=) c.3936+9G= (n.3936+9G=) c.3765+9G= (n.3765+9G=) c.3651+9G= (n.3651+9G=) c.3213+9G= (n.3213+9G=) n.4481+9G= | |
| 3 | g.47000414G>A | CA2665493373 | NBEAL2 | c.4305+10G>A (n.4305+10G>A) c.4203+10G>A (n.4203+10G>A) c.2168+10G>A c.777+10G>A (n.777+10G>A) c.4224+10G>A (n.4224+10G>A) c.4284+10G>A (n.4284+10G>A) c.3936+10G>A (n.3936+10G>A) c.3765+10G>A (n.3765+10G>A) c.3651+10G>A (n.3651+10G>A) c.3213+10G>A (n.3213+10G>A) n.4481+10G>A | gnomAD v4 |
| 3 | g.47000414G>C | CA73818092 | NBEAL2 | c.4305+10G>C (n.4305+10G>C) c.4203+10G>C (n.4203+10G>C) c.2168+10G>C c.777+10G>C (n.777+10G>C) c.4224+10G>C (n.4224+10G>C) c.4284+10G>C (n.4284+10G>C) c.3936+10G>C (n.3936+10G>C) c.3765+10G>C (n.3765+10G>C) c.3651+10G>C (n.3651+10G>C) c.3213+10G>C (n.3213+10G>C) n.4481+10G>C | dbSNP |
| 3 | g.47000414G= | CA1362363178 | NBEAL2 | c.4305+10G= (n.4305+10G=) c.4203+10G= (n.4203+10G=) c.2168+10G= c.777+10G= (n.777+10G=) c.4224+10G= (n.4224+10G=) c.4284+10G= (n.4284+10G=) c.3936+10G= (n.3936+10G=) c.3765+10G= (n.3765+10G=) c.3651+10G= (n.3651+10G=) c.3213+10G= (n.3213+10G=) n.4481+10G= | |
| 3 | g.47000415C>T | CA2665493374 | NBEAL2 | c.4305+11C>T (n.4305+11C>T) c.4203+11C>T (n.4203+11C>T) c.2168+11C>T c.777+11C>T (n.777+11C>T) c.4224+11C>T (n.4224+11C>T) c.4284+11C>T (n.4284+11C>T) c.3936+11C>T (n.3936+11C>T) c.3765+11C>T (n.3765+11C>T) c.3651+11C>T (n.3651+11C>T) c.3213+11C>T (n.3213+11C>T) n.4481+11C>T | gnomAD v4 |
| 3 | g.47000416C>A | CA2665493376 | NBEAL2 | c.4305+12C>A (n.4305+12C>A) c.4203+12C>A (n.4203+12C>A) c.2168+12C>A c.777+12C>A (n.777+12C>A) c.4224+12C>A (n.4224+12C>A) c.4284+12C>A (n.4284+12C>A) c.3936+12C>A (n.3936+12C>A) c.3765+12C>A (n.3765+12C>A) c.3651+12C>A (n.3651+12C>A) c.3213+12C>A (n.3213+12C>A) n.4481+12C>A | gnomAD v4 |
| 3 | g.47000416C= | CA1362363179 | NBEAL2 | c.4305+12C= (n.4305+12C=) c.4203+12C= (n.4203+12C=) c.2168+12C= c.777+12C= (n.777+12C=) c.4224+12C= (n.4224+12C=) c.4284+12C= (n.4284+12C=) c.3936+12C= (n.3936+12C=) c.3765+12C= (n.3765+12C=) c.3651+12C= (n.3651+12C=) c.3213+12C= (n.3213+12C=) n.4481+12C= | |
| 3 | g.47000416C>G | CA73818101 | NBEAL2 | c.4305+12C>G (n.4305+12C>G) c.4203+12C>G (n.4203+12C>G) c.2168+12C>G c.777+12C>G (n.777+12C>G) c.4224+12C>G (n.4224+12C>G) c.4284+12C>G (n.4284+12C>G) c.3936+12C>G (n.3936+12C>G) c.3765+12C>G (n.3765+12C>G) c.3651+12C>G (n.3651+12C>G) c.3213+12C>G (n.3213+12C>G) n.4481+12C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47000417C= | CA1362363180 | NBEAL2 | c.4305+13C= (n.4305+13C=) c.4203+13C= (n.4203+13C=) c.2168+13C= c.777+13C= (n.777+13C=) c.4224+13C= (n.4224+13C=) c.4284+13C= (n.4284+13C=) c.3936+13C= (n.3936+13C=) c.3765+13C= (n.3765+13C=) c.3651+13C= (n.3651+13C=) c.3213+13C= (n.3213+13C=) n.4481+13C= | |
| 3 | g.47000417C>T | CA2361204 | NBEAL2 | c.4305+13C>T (n.4305+13C>T) c.4203+13C>T (n.4203+13C>T) c.2168+13C>T c.777+13C>T (n.777+13C>T) c.4224+13C>T (n.4224+13C>T) c.4284+13C>T (n.4284+13C>T) c.3936+13C>T (n.3936+13C>T) c.3765+13C>T (n.3765+13C>T) c.3651+13C>T (n.3651+13C>T) c.3213+13C>T (n.3213+13C>T) n.4481+13C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000419C>T | CA2665493378 | NBEAL2 | c.4305+15C>T (n.4305+15C>T) c.4203+15C>T (n.4203+15C>T) c.2168+15C>T c.777+15C>T (n.777+15C>T) c.4224+15C>T (n.4224+15C>T) c.4284+15C>T (n.4284+15C>T) c.3936+15C>T (n.3936+15C>T) c.3765+15C>T (n.3765+15C>T) c.3651+15C>T (n.3651+15C>T) c.3213+15C>T (n.3213+15C>T) n.4481+15C>T | gnomAD v4 |
| 3 | g.47000420C>A | CA1362363182 | NBEAL2 | c.4305+16C>A (n.4305+16C>A) c.4203+16C>A (n.4203+16C>A) c.2168+16C>A c.777+16C>A (n.777+16C>A) c.4224+16C>A (n.4224+16C>A) c.4284+16C>A (n.4284+16C>A) c.3936+16C>A (n.3936+16C>A) c.3765+16C>A (n.3765+16C>A) c.3651+16C>A (n.3651+16C>A) c.3213+16C>A (n.3213+16C>A) n.4481+16C>A | dbSNP gnomAD v4 |
| 3 | g.47000420C= | CA1362363181 | NBEAL2 | c.4305+16C= (n.4305+16C=) c.4203+16C= (n.4203+16C=) c.2168+16C= c.777+16C= (n.777+16C=) c.4224+16C= (n.4224+16C=) c.4284+16C= (n.4284+16C=) c.3936+16C= (n.3936+16C=) c.3765+16C= (n.3765+16C=) c.3651+16C= (n.3651+16C=) c.3213+16C= (n.3213+16C=) n.4481+16C= | |
| 3 | g.47000421C>A | CA2577577262 | NBEAL2 | c.4305+17C>A (n.4305+17C>A) c.4203+17C>A (n.4203+17C>A) c.2168+17C>A c.777+17C>A (n.777+17C>A) c.4224+17C>A (n.4224+17C>A) c.4284+17C>A (n.4284+17C>A) c.3936+17C>A (n.3936+17C>A) c.3765+17C>A (n.3765+17C>A) c.3651+17C>A (n.3651+17C>A) c.3213+17C>A (n.3213+17C>A) n.4481+17C>A | gnomAD v4 |
| 3 | g.47000422T>C | CA2665493382 | NBEAL2 | c.4305+18T>C (n.4305+18T>C) c.4203+18T>C (n.4203+18T>C) c.2168+18T>C c.777+18T>C (n.777+18T>C) c.4224+18T>C (n.4224+18T>C) c.4284+18T>C (n.4284+18T>C) c.3936+18T>C (n.3936+18T>C) c.3765+18T>C (n.3765+18T>C) c.3651+18T>C (n.3651+18T>C) c.3213+18T>C (n.3213+18T>C) n.4481+18T>C | gnomAD v4 |
| 3 | g.47000423C>A | CA2665493384 | NBEAL2 | c.4305+19C>A (n.4305+19C>A) c.4203+19C>A (n.4203+19C>A) c.2168+19C>A c.777+19C>A (n.777+19C>A) c.4224+19C>A (n.4224+19C>A) c.4284+19C>A (n.4284+19C>A) c.3936+19C>A (n.3936+19C>A) c.3765+19C>A (n.3765+19C>A) c.3651+19C>A (n.3651+19C>A) c.3213+19C>A (n.3213+19C>A) n.4481+19C>A | gnomAD v4 |
| 3 | g.47000425G>A | CA2665493388 | NBEAL2 | c.4305+21G>A (n.4305+21G>A) c.4203+21G>A (n.4203+21G>A) c.2168+21G>A c.777+21G>A (n.777+21G>A) c.4224+21G>A (n.4224+21G>A) c.4284+21G>A (n.4284+21G>A) c.3936+21G>A (n.3936+21G>A) c.3765+21G>A (n.3765+21G>A) c.3651+21G>A (n.3651+21G>A) c.3213+21G>A (n.3213+21G>A) n.4481+21G>A | gnomAD v4 |
| 3 | g.47000425G>T | CA2665493391 | NBEAL2 | c.4305+21G>T (n.4305+21G>T) c.4203+21G>T (n.4203+21G>T) c.2168+21G>T c.777+21G>T (n.777+21G>T) c.4224+21G>T (n.4224+21G>T) c.4284+21G>T (n.4284+21G>T) c.3936+21G>T (n.3936+21G>T) c.3765+21G>T (n.3765+21G>T) c.3651+21G>T (n.3651+21G>T) c.3213+21G>T (n.3213+21G>T) n.4481+21G>T | gnomAD v4 |
| 3 | g.47000426C>A | CA2665493394 | NBEAL2 | c.4305+22C>A (n.4305+22C>A) c.4203+22C>A (n.4203+22C>A) c.2168+22C>A c.777+22C>A (n.777+22C>A) c.4224+22C>A (n.4224+22C>A) c.4284+22C>A (n.4284+22C>A) c.3936+22C>A (n.3936+22C>A) c.3765+22C>A (n.3765+22C>A) c.3651+22C>A (n.3651+22C>A) c.3213+22C>A (n.3213+22C>A) n.4481+22C>A | gnomAD v4 |
| 3 | g.47000427C>G | CA2553964315 | NBEAL2 | c.4305+23C>G (n.4305+23C>G) c.4203+23C>G (n.4203+23C>G) c.2168+23C>G c.777+23C>G (n.777+23C>G) c.4224+23C>G (n.4224+23C>G) c.4284+23C>G (n.4284+23C>G) c.3936+23C>G (n.3936+23C>G) c.3765+23C>G (n.3765+23C>G) c.3651+23C>G (n.3651+23C>G) c.3213+23C>G (n.3213+23C>G) n.4481+23C>G | |
| 3 | g.47000427C>T | CA2665493396 | NBEAL2 | c.4305+23C>T (n.4305+23C>T) c.4203+23C>T (n.4203+23C>T) c.2168+23C>T c.777+23C>T (n.777+23C>T) c.4224+23C>T (n.4224+23C>T) c.4284+23C>T (n.4284+23C>T) c.3936+23C>T (n.3936+23C>T) c.3765+23C>T (n.3765+23C>T) c.3651+23C>T (n.3651+23C>T) c.3213+23C>T (n.3213+23C>T) n.4481+23C>T | gnomAD v4 |
| 3 | g.47000429C>A | CA2665493398 | NBEAL2 | c.4305+25C>A (n.4305+25C>A) c.4203+25C>A (n.4203+25C>A) c.2168+25C>A c.777+25C>A (n.777+25C>A) c.4224+25C>A (n.4224+25C>A) c.4284+25C>A (n.4284+25C>A) c.3936+25C>A (n.3936+25C>A) c.3765+25C>A (n.3765+25C>A) c.3651+25C>A (n.3651+25C>A) c.3213+25C>A (n.3213+25C>A) n.4481+25C>A | gnomAD v4 |
| 3 | g.47000431G>A | CA2665493399 | NBEAL2 | c.4305+27G>A (n.4305+27G>A) c.4203+27G>A (n.4203+27G>A) c.2168+27G>A c.777+27G>A (n.777+27G>A) c.4224+27G>A (n.4224+27G>A) c.4284+27G>A (n.4284+27G>A) c.3936+27G>A (n.3936+27G>A) c.3765+27G>A (n.3765+27G>A) c.3651+27G>A (n.3651+27G>A) c.3213+27G>A (n.3213+27G>A) n.4481+27G>A | gnomAD v4 |
| 3 | g.47000431G>T | CA2665493400 | NBEAL2 | c.4305+27G>T (n.4305+27G>T) c.4203+27G>T (n.4203+27G>T) c.2168+27G>T c.777+27G>T (n.777+27G>T) c.4224+27G>T (n.4224+27G>T) c.4284+27G>T (n.4284+27G>T) c.3936+27G>T (n.3936+27G>T) c.3765+27G>T (n.3765+27G>T) c.3651+27G>T (n.3651+27G>T) c.3213+27G>T (n.3213+27G>T) n.4481+27G>T | gnomAD v4 |
| 3 | g.47000432C>A | CA2665493403 | NBEAL2 | c.4305+28C>A (n.4305+28C>A) c.4203+28C>A (n.4203+28C>A) c.2168+28C>A c.777+28C>A (n.777+28C>A) c.4224+28C>A (n.4224+28C>A) c.4284+28C>A (n.4284+28C>A) c.3936+28C>A (n.3936+28C>A) c.3765+28C>A (n.3765+28C>A) c.3651+28C>A (n.3651+28C>A) c.3213+28C>A (n.3213+28C>A) n.4481+28C>A | gnomAD v4 |
| 3 | g.47000432C= | CA1362363183 | NBEAL2 | c.4305+28C= (n.4305+28C=) c.4203+28C= (n.4203+28C=) c.2168+28C= c.777+28C= (n.777+28C=) c.4224+28C= (n.4224+28C=) c.4284+28C= (n.4284+28C=) c.3936+28C= (n.3936+28C=) c.3765+28C= (n.3765+28C=) c.3651+28C= (n.3651+28C=) c.3213+28C= (n.3213+28C=) n.4481+28C= | |
| 3 | g.47000432C>T | CA907615425 | NBEAL2 | c.4305+28C>T (n.4305+28C>T) c.4203+28C>T (n.4203+28C>T) c.2168+28C>T c.777+28C>T (n.777+28C>T) c.4224+28C>T (n.4224+28C>T) c.4284+28C>T (n.4284+28C>T) c.3936+28C>T (n.3936+28C>T) c.3765+28C>T (n.3765+28C>T) c.3651+28C>T (n.3651+28C>T) c.3213+28C>T (n.3213+28C>T) n.4481+28C>T | dbSNP gnomAD v4 |
| 3 | g.47000433A= | CA1362363184 | NBEAL2 | c.4305+29A= (n.4305+29A=) c.4203+29A= (n.4203+29A=) c.2168+29A= c.777+29A= (n.777+29A=) c.4224+29A= (n.4224+29A=) c.4284+29A= (n.4284+29A=) c.3936+29A= (n.3936+29A=) c.3765+29A= (n.3765+29A=) c.3651+29A= (n.3651+29A=) c.3213+29A= (n.3213+29A=) n.4481+29A= | |
| 3 | g.47000433A>G | CA73818109 | NBEAL2 | c.4305+29A>G (n.4305+29A>G) c.4203+29A>G (n.4203+29A>G) c.2168+29A>G c.777+29A>G (n.777+29A>G) c.4224+29A>G (n.4224+29A>G) c.4284+29A>G (n.4284+29A>G) c.3936+29A>G (n.3936+29A>G) c.3765+29A>G (n.3765+29A>G) c.3651+29A>G (n.3651+29A>G) c.3213+29A>G (n.3213+29A>G) n.4481+29A>G | dbSNP gnomAD v2 |
| 3 | g.47000434T>A | CA1362363186 | NBEAL2 | c.4305+30T>A (n.4305+30T>A) c.4203+30T>A (n.4203+30T>A) c.2168+30T>A c.777+30T>A (n.777+30T>A) c.4224+30T>A (n.4224+30T>A) c.4284+30T>A (n.4284+30T>A) c.3936+30T>A (n.3936+30T>A) c.3765+30T>A (n.3765+30T>A) c.3651+30T>A (n.3651+30T>A) c.3213+30T>A (n.3213+30T>A) n.4481+30T>A | dbSNP |
| 3 | g.47000434T= | CA1362363185 | NBEAL2 | c.4305+30T= (n.4305+30T=) c.4203+30T= (n.4203+30T=) c.2168+30T= c.777+30T= (n.777+30T=) c.4224+30T= (n.4224+30T=) c.4284+30T= (n.4284+30T=) c.3936+30T= (n.3936+30T=) c.3765+30T= (n.3765+30T=) c.3651+30T= (n.3651+30T=) c.3213+30T= (n.3213+30T=) n.4481+30T= | |
| 3 | g.47000436G>A | CA1362363188 | NBEAL2 | c.4305+32G>A (n.4305+32G>A) c.4203+32G>A (n.4203+32G>A) c.2168+32G>A c.777+32G>A (n.777+32G>A) c.4224+32G>A (n.4224+32G>A) c.4284+32G>A (n.4284+32G>A) c.3936+32G>A (n.3936+32G>A) c.3765+32G>A (n.3765+32G>A) c.3651+32G>A (n.3651+32G>A) c.3213+32G>A (n.3213+32G>A) n.4481+32G>A | dbSNP |
| 3 | g.47000436G= | CA1362363187 | NBEAL2 | c.4305+32G= (n.4305+32G=) c.4203+32G= (n.4203+32G=) c.2168+32G= c.777+32G= (n.777+32G=) c.4224+32G= (n.4224+32G=) c.4284+32G= (n.4284+32G=) c.3936+32G= (n.3936+32G=) c.3765+32G= (n.3765+32G=) c.3651+32G= (n.3651+32G=) c.3213+32G= (n.3213+32G=) n.4481+32G= | |
| 3 | g.47000436G>T | CA1362363189 | NBEAL2 | c.4305+32G>T (n.4305+32G>T) c.4203+32G>T (n.4203+32G>T) c.2168+32G>T c.777+32G>T (n.777+32G>T) c.4224+32G>T (n.4224+32G>T) c.4284+32G>T (n.4284+32G>T) c.3936+32G>T (n.3936+32G>T) c.3765+32G>T (n.3765+32G>T) c.3651+32G>T (n.3651+32G>T) c.3213+32G>T (n.3213+32G>T) n.4481+32G>T | dbSNP gnomAD v4 |
| 3 | g.47000438A= | CA1362363190 | NBEAL2 | c.4305+34A= (n.4305+34A=) c.4203+34A= (n.4203+34A=) c.2168+34A= c.777+34A= (n.777+34A=) c.4224+34A= (n.4224+34A=) c.4284+34A= (n.4284+34A=) c.3936+34A= (n.3936+34A=) c.3765+34A= (n.3765+34A=) c.3651+34A= (n.3651+34A=) c.3213+34A= (n.3213+34A=) n.4481+34A= | |
| 3 | g.47000438A>T | CA543042238 | NBEAL2 | c.4305+34A>T (n.4305+34A>T) c.4203+34A>T (n.4203+34A>T) c.2168+34A>T c.777+34A>T (n.777+34A>T) c.4224+34A>T (n.4224+34A>T) c.4284+34A>T (n.4284+34A>T) c.3936+34A>T (n.3936+34A>T) c.3765+34A>T (n.3765+34A>T) c.3651+34A>T (n.3651+34A>T) c.3213+34A>T (n.3213+34A>T) n.4481+34A>T | dbSNP gnomAD v2 |
| 3 | g.47000439C>G | CA2756112734 | NBEAL2 | c.4305+35C>G (n.4305+35C>G) c.4203+35C>G (n.4203+35C>G) c.2168+35C>G c.777+35C>G (n.777+35C>G) c.4224+35C>G (n.4224+35C>G) c.4284+35C>G (n.4284+35C>G) c.3936+35C>G (n.3936+35C>G) c.3765+35C>G (n.3765+35C>G) c.3651+35C>G (n.3651+35C>G) c.3213+35C>G (n.3213+35C>G) n.4481+35C>G | |
| 3 | g.47000441C>A | CA2665493407 | NBEAL2 | c.4305+37C>A (n.4305+37C>A) c.4203+37C>A (n.4203+37C>A) c.2168+37C>A c.777+37C>A (n.777+37C>A) c.4224+37C>A (n.4224+37C>A) c.4284+37C>A (n.4284+37C>A) c.3936+37C>A (n.3936+37C>A) c.3765+37C>A (n.3765+37C>A) c.3651+37C>A (n.3651+37C>A) c.3213+37C>A (n.3213+37C>A) n.4481+37C>A | gnomAD v4 |
| 3 | g.47000444G>A | CA2665493408 | NBEAL2 | c.4305+40G>A (n.4305+40G>A) c.4203+40G>A (n.4203+40G>A) c.2168+40G>A c.777+40G>A (n.777+40G>A) c.4224+40G>A (n.4224+40G>A) c.4284+40G>A (n.4284+40G>A) c.3936+40G>A (n.3936+40G>A) c.3765+40G>A (n.3765+40G>A) c.3651+40G>A (n.3651+40G>A) c.3213+40G>A (n.3213+40G>A) n.4481+40G>A | gnomAD v4 |
| 3 | g.47000445G>A | CA2665493409 | NBEAL2 | c.4305+41G>A (n.4305+41G>A) c.4203+41G>A (n.4203+41G>A) c.2168+41G>A c.777+41G>A (n.777+41G>A) c.4224+41G>A (n.4224+41G>A) c.4284+41G>A (n.4284+41G>A) c.3936+41G>A (n.3936+41G>A) c.3765+41G>A (n.3765+41G>A) c.3651+41G>A (n.3651+41G>A) c.3213+41G>A (n.3213+41G>A) n.4481+41G>A | gnomAD v4 |
| 3 | g.47000446G>A | CA2361205 | NBEAL2 | c.4305+42G>A (n.4305+42G>A) c.4203+42G>A (n.4203+42G>A) c.2168+42G>A c.777+42G>A (n.777+42G>A) c.4224+42G>A (n.4224+42G>A) c.4284+42G>A (n.4284+42G>A) c.3936+42G>A (n.3936+42G>A) c.3765+42G>A (n.3765+42G>A) c.3651+42G>A (n.3651+42G>A) c.3213+42G>A (n.3213+42G>A) n.4481+42G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000446G= | CA1362363191 | NBEAL2 | c.4305+42G= (n.4305+42G=) c.4203+42G= (n.4203+42G=) c.2168+42G= c.777+42G= (n.777+42G=) c.4224+42G= (n.4224+42G=) c.4284+42G= (n.4284+42G=) c.3936+42G= (n.3936+42G=) c.3765+42G= (n.3765+42G=) c.3651+42G= (n.3651+42G=) c.3213+42G= (n.3213+42G=) n.4481+42G= | |
| 3 | g.47000446G>T | CA2665493411 | NBEAL2 | c.4305+42G>T (n.4305+42G>T) c.4203+42G>T (n.4203+42G>T) c.2168+42G>T c.777+42G>T (n.777+42G>T) c.4224+42G>T (n.4224+42G>T) c.4284+42G>T (n.4284+42G>T) c.3936+42G>T (n.3936+42G>T) c.3765+42G>T (n.3765+42G>T) c.3651+42G>T (n.3651+42G>T) c.3213+42G>T (n.3213+42G>T) n.4481+42G>T | gnomAD v4 |
| 3 | g.47000451C>A | CA2665493412 | NBEAL2 | c.4305+47C>A (n.4305+47C>A) c.4203+47C>A (n.4203+47C>A) c.2168+47C>A c.777+47C>A (n.777+47C>A) c.4224+47C>A (n.4224+47C>A) c.4284+47C>A (n.4284+47C>A) c.3936+47C>A (n.3936+47C>A) c.3765+47C>A (n.3765+47C>A) c.3651+47C>A (n.3651+47C>A) c.3213+47C>A (n.3213+47C>A) n.4481+47C>A | gnomAD v4 |
| 3 | g.47000453C= | CA1362363192 | NBEAL2 | c.4305+49C= (n.4305+49C=) c.4203+49C= (n.4203+49C=) c.2168+49C= c.777+49C= (n.777+49C=) c.4224+49C= (n.4224+49C=) c.4284+49C= (n.4284+49C=) c.3936+49C= (n.3936+49C=) c.3765+49C= (n.3765+49C=) c.3651+49C= (n.3651+49C=) c.3213+49C= (n.3213+49C=) n.4481+49C= | |
| 3 | g.47000453C>T | CA542743272 | NBEAL2 | c.4305+49C>T (n.4305+49C>T) c.4203+49C>T (n.4203+49C>T) c.2168+49C>T c.777+49C>T (n.777+49C>T) c.4224+49C>T (n.4224+49C>T) c.4284+49C>T (n.4284+49C>T) c.3936+49C>T (n.3936+49C>T) c.3765+49C>T (n.3765+49C>T) c.3651+49C>T (n.3651+49C>T) c.3213+49C>T (n.3213+49C>T) n.4481+49C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000455T>G | CA2665493413 | NBEAL2 | c.4305+51T>G (n.4305+51T>G) c.4203+51T>G (n.4203+51T>G) c.2168+51T>G c.777+51T>G (n.777+51T>G) c.4224+51T>G (n.4224+51T>G) c.4284+51T>G (n.4284+51T>G) c.3936+51T>G (n.3936+51T>G) c.3765+51T>G (n.3765+51T>G) c.3651+51T>G (n.3651+51T>G) c.3213+51T>G (n.3213+51T>G) n.4481+51T>G | gnomAD v4 |
| 3 | g.47000457T>C | CA73818131 | NBEAL2 | c.4305+53T>C (n.4305+53T>C) c.4203+53T>C (n.4203+53T>C) c.2168+53T>C c.777+53T>C (n.777+53T>C) c.4224+53T>C (n.4224+53T>C) c.4284+53T>C (n.4284+53T>C) c.3936+53T>C (n.3936+53T>C) c.3765+53T>C (n.3765+53T>C) c.3651+53T>C (n.3651+53T>C) c.3213+53T>C (n.3213+53T>C) n.4481+53T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000457T>G | CA2665493414 | NBEAL2 | c.4305+53T>G (n.4305+53T>G) c.4203+53T>G (n.4203+53T>G) c.2168+53T>G c.777+53T>G (n.777+53T>G) c.4224+53T>G (n.4224+53T>G) c.4284+53T>G (n.4284+53T>G) c.3936+53T>G (n.3936+53T>G) c.3765+53T>G (n.3765+53T>G) c.3651+53T>G (n.3651+53T>G) c.3213+53T>G (n.3213+53T>G) n.4481+53T>G | gnomAD v4 |
| 3 | g.47000457T= | CA1362363193 | NBEAL2 | c.4305+53T= (n.4305+53T=) c.4203+53T= (n.4203+53T=) c.2168+53T= c.777+53T= (n.777+53T=) c.4224+53T= (n.4224+53T=) c.4284+53T= (n.4284+53T=) c.3936+53T= (n.3936+53T=) c.3765+53T= (n.3765+53T=) c.3651+53T= (n.3651+53T=) c.3213+53T= (n.3213+53T=) n.4481+53T= | |
| 3 | g.47000458G>A | CA907615432 | NBEAL2 | c.4305+54G>A (n.4305+54G>A) c.4203+54G>A (n.4203+54G>A) c.2168+54G>A c.777+54G>A (n.777+54G>A) c.4224+54G>A (n.4224+54G>A) c.4284+54G>A (n.4284+54G>A) c.3936+54G>A (n.3936+54G>A) c.3765+54G>A (n.3765+54G>A) c.3651+54G>A (n.3651+54G>A) c.3213+54G>A (n.3213+54G>A) n.4481+54G>A | dbSNP gnomAD v4 |
| 3 | g.47000458G= | CA1362363194 | NBEAL2 | c.4305+54G= (n.4305+54G=) c.4203+54G= (n.4203+54G=) c.2168+54G= c.777+54G= (n.777+54G=) c.4224+54G= (n.4224+54G=) c.4284+54G= (n.4284+54G=) c.3936+54G= (n.3936+54G=) c.3765+54G= (n.3765+54G=) c.3651+54G= (n.3651+54G=) c.3213+54G= (n.3213+54G=) n.4481+54G= | |
| 3 | g.47000459G>A | CA2665493418 | NBEAL2 | c.4305+55G>A (n.4305+55G>A) c.4203+55G>A (n.4203+55G>A) c.2168+55G>A c.777+55G>A (n.777+55G>A) c.4224+55G>A (n.4224+55G>A) c.4284+55G>A (n.4284+55G>A) c.3936+55G>A (n.3936+55G>A) c.3765+55G>A (n.3765+55G>A) c.3651+55G>A (n.3651+55G>A) c.3213+55G>A (n.3213+55G>A) n.4481+55G>A | gnomAD v4 |
| 3 | g.47000459G>C | CA907615433 | NBEAL2 | c.4305+55G>C (n.4305+55G>C) c.4203+55G>C (n.4203+55G>C) c.2168+55G>C c.777+55G>C (n.777+55G>C) c.4224+55G>C (n.4224+55G>C) c.4284+55G>C (n.4284+55G>C) c.3936+55G>C (n.3936+55G>C) c.3765+55G>C (n.3765+55G>C) c.3651+55G>C (n.3651+55G>C) c.3213+55G>C (n.3213+55G>C) n.4481+55G>C | dbSNP gnomAD v4 |
| 3 | g.47000459G= | CA1362363195 | NBEAL2 | c.4305+55G= (n.4305+55G=) c.4203+55G= (n.4203+55G=) c.2168+55G= c.777+55G= (n.777+55G=) c.4224+55G= (n.4224+55G=) c.4284+55G= (n.4284+55G=) c.3936+55G= (n.3936+55G=) c.3765+55G= (n.3765+55G=) c.3651+55G= (n.3651+55G=) c.3213+55G= (n.3213+55G=) n.4481+55G= | |
| 3 | g.47000462C>A | CA2665493420 | NBEAL2 | c.4305+58C>A (n.4305+58C>A) c.4203+58C>A (n.4203+58C>A) c.2168+58C>A c.777+58C>A (n.777+58C>A) c.4224+58C>A (n.4224+58C>A) c.4284+58C>A (n.4284+58C>A) c.3936+58C>A (n.3936+58C>A) c.3765+58C>A (n.3765+58C>A) c.3651+58C>A (n.3651+58C>A) c.3213+58C>A (n.3213+58C>A) n.4481+58C>A | gnomAD v4 |
| 3 | g.47000462C>T | CA2665493421 | NBEAL2 | c.4305+58C>T (n.4305+58C>T) c.4203+58C>T (n.4203+58C>T) c.2168+58C>T c.777+58C>T (n.777+58C>T) c.4224+58C>T (n.4224+58C>T) c.4284+58C>T (n.4284+58C>T) c.3936+58C>T (n.3936+58C>T) c.3765+58C>T (n.3765+58C>T) c.3651+58C>T (n.3651+58C>T) c.3213+58C>T (n.3213+58C>T) n.4481+58C>T | gnomAD v4 |
| 3 | g.47000464C>A | CA2665493422 | NBEAL2 | c.4305+60C>A (n.4305+60C>A) c.4203+60C>A (n.4203+60C>A) c.2168+60C>A c.777+60C>A (n.777+60C>A) c.4224+60C>A (n.4224+60C>A) c.4284+60C>A (n.4284+60C>A) c.3936+60C>A (n.3936+60C>A) c.3765+60C>A (n.3765+60C>A) c.3651+60C>A (n.3651+60C>A) c.3213+60C>A (n.3213+60C>A) n.4481+60C>A | gnomAD v4 |
| 3 | g.47000464C= | CA1362363196 | NBEAL2 | c.4305+60C= (n.4305+60C=) c.4203+60C= (n.4203+60C=) c.2168+60C= c.777+60C= (n.777+60C=) c.4224+60C= (n.4224+60C=) c.4284+60C= (n.4284+60C=) c.3936+60C= (n.3936+60C=) c.3765+60C= (n.3765+60C=) c.3651+60C= (n.3651+60C=) c.3213+60C= (n.3213+60C=) n.4481+60C= | |
| 3 | g.47000464C>T | CA73818141 | NBEAL2 | c.4305+60C>T (n.4305+60C>T) c.4203+60C>T (n.4203+60C>T) c.2168+60C>T c.777+60C>T (n.777+60C>T) c.4224+60C>T (n.4224+60C>T) c.4284+60C>T (n.4284+60C>T) c.3936+60C>T (n.3936+60C>T) c.3765+60C>T (n.3765+60C>T) c.3651+60C>T (n.3651+60C>T) c.3213+60C>T (n.3213+60C>T) n.4481+60C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47000465A>G | CA2665493423 | NBEAL2 | c.4305+61A>G (n.4305+61A>G) c.4203+61A>G (n.4203+61A>G) c.2168+61A>G c.777+61A>G (n.777+61A>G) c.4224+61A>G (n.4224+61A>G) c.4284+61A>G (n.4284+61A>G) c.3936+61A>G (n.3936+61A>G) c.3765+61A>G (n.3765+61A>G) c.3651+61A>G (n.3651+61A>G) c.3213+61A>G (n.3213+61A>G) n.4481+61A>G | gnomAD v4 |
| 3 | g.47000466G>T | CA2665493424 | NBEAL2 | c.4305+62G>T (n.4305+62G>T) c.4203+62G>T (n.4203+62G>T) c.2168+62G>T c.777+62G>T (n.777+62G>T) c.4224+62G>T (n.4224+62G>T) c.4284+62G>T (n.4284+62G>T) c.3936+62G>T (n.3936+62G>T) c.3765+62G>T (n.3765+62G>T) c.3651+62G>T (n.3651+62G>T) c.3213+62G>T (n.3213+62G>T) n.4481+62G>T | gnomAD v4 |
| 3 | g.47000467G>C | CA2577577263 | NBEAL2 | c.4305+63G>C (n.4305+63G>C) c.4203+63G>C (n.4203+63G>C) c.2168+63G>C c.777+63G>C (n.777+63G>C) c.4224+63G>C (n.4224+63G>C) c.4284+63G>C (n.4284+63G>C) c.3936+63G>C (n.3936+63G>C) c.3765+63G>C (n.3765+63G>C) c.3651+63G>C (n.3651+63G>C) c.3213+63G>C (n.3213+63G>C) n.4481+63G>C | dbSNP |
| 3 | g.47000468G>T | CA2665493425 | NBEAL2 | c.4305+64G>T (n.4305+64G>T) c.4203+64G>T (n.4203+64G>T) c.2168+64G>T c.777+64G>T (n.777+64G>T) c.4224+64G>T (n.4224+64G>T) c.4284+64G>T (n.4284+64G>T) c.3936+64G>T (n.3936+64G>T) c.3765+64G>T (n.3765+64G>T) c.3651+64G>T (n.3651+64G>T) c.3213+64G>T (n.3213+64G>T) n.4481+64G>T | gnomAD v4 |