Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.47000327T>A | CA352517160 | NBEAL2 | c.4228T>A (p.Ser1410Thr) c.4126T>A (p.Ser1376Thr) c.2091T>A c.700T>A (p.Ser234Thr) c.4147T>A (p.Ser1383Thr) c.4207T>A (p.Ser1403Thr) c.3859T>A (p.Ser1287Thr) c.3688T>A (p.Ser1230Thr) c.3574T>A (p.Ser1192Thr) c.3136T>A (p.Ser1046Thr) n.4404T>A | |
3 | g.47000327T>C | CA352517161 | NBEAL2 | c.4228T>C (p.Ser1410Pro) c.4126T>C (p.Ser1376Pro) c.2091T>C c.700T>C (p.Ser234Pro) c.4147T>C (p.Ser1383Pro) c.4207T>C (p.Ser1403Pro) c.3859T>C (p.Ser1287Pro) c.3688T>C (p.Ser1230Pro) c.3574T>C (p.Ser1192Pro) c.3136T>C (p.Ser1046Pro) n.4404T>C | dbSNP gnomAD v4 |
3 | g.47000327T>G | CA352517162 | NBEAL2 | c.4228T>G (p.Ser1410Ala) c.4126T>G (p.Ser1376Ala) c.2091T>G c.700T>G (p.Ser234Ala) c.4147T>G (p.Ser1383Ala) c.4207T>G (p.Ser1403Ala) c.3859T>G (p.Ser1287Ala) c.3688T>G (p.Ser1230Ala) c.3574T>G (p.Ser1192Ala) c.3136T>G (p.Ser1046Ala) n.4404T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000327T= | CA1362363135 | NBEAL2 | c.4228T= (p.Ser1410=) c.4126T= (p.Ser1376=) c.2091T= c.700T= (p.Ser234=) c.4147T= (p.Ser1383=) c.4207T= (p.Ser1403=) c.3859T= (p.Ser1287=) c.3688T= (p.Ser1230=) c.3574T= (p.Ser1192=) c.3136T= (p.Ser1046=) n.4404T= | |
3 | g.47000328C>A | CA352517163 | NBEAL2 | c.4229C>A (p.Ser1410Tyr) c.4127C>A (p.Ser1376Tyr) c.2092C>A c.701C>A (p.Ser234Tyr) c.4148C>A (p.Ser1383Tyr) c.4208C>A (p.Ser1403Tyr) c.3860C>A (p.Ser1287Tyr) c.3689C>A (p.Ser1230Tyr) c.3575C>A (p.Ser1192Tyr) c.3137C>A (p.Ser1046Tyr) n.4405C>A | |
3 | g.47000328C>G | CA352517164 | NBEAL2 | c.4229C>G (p.Ser1410Cys) c.4127C>G (p.Ser1376Cys) c.2092C>G c.701C>G (p.Ser234Cys) c.4148C>G (p.Ser1383Cys) c.4208C>G (p.Ser1403Cys) c.3860C>G (p.Ser1287Cys) c.3689C>G (p.Ser1230Cys) c.3575C>G (p.Ser1192Cys) c.3137C>G (p.Ser1046Cys) n.4405C>G | |
3 | g.47000328C>T | CA352517165 | NBEAL2 | c.4229C>T (p.Ser1410Phe) c.4127C>T (p.Ser1376Phe) c.2092C>T c.701C>T (p.Ser234Phe) c.4148C>T (p.Ser1383Phe) c.4208C>T (p.Ser1403Phe) c.3860C>T (p.Ser1287Phe) c.3689C>T (p.Ser1230Phe) c.3575C>T (p.Ser1192Phe) c.3137C>T (p.Ser1046Phe) n.4405C>T | |
3 | g.47000329C>A | CA433598386 | NBEAL2 | c.4230C>A (p.Ser1410=) c.4128C>A (p.Ser1376=) c.2093C>A c.702C>A (p.Ser234=) c.4149C>A (p.Ser1383=) c.4209C>A (p.Ser1403=) c.3861C>A (p.Ser1287=) c.3690C>A (p.Ser1230=) c.3576C>A (p.Ser1192=) c.3138C>A (p.Ser1046=) n.4406C>A | |
3 | g.47000329C>G | CA433598387 | NBEAL2 | c.4230C>G (p.Ser1410=) c.4128C>G (p.Ser1376=) c.2093C>G c.702C>G (p.Ser234=) c.4149C>G (p.Ser1383=) c.4209C>G (p.Ser1403=) c.3861C>G (p.Ser1287=) c.3690C>G (p.Ser1230=) c.3576C>G (p.Ser1192=) c.3138C>G (p.Ser1046=) n.4406C>G | |
3 | g.47000329C>T | CA433598388 | NBEAL2 | c.4230C>T (p.Ser1410=) c.4128C>T (p.Ser1376=) c.2093C>T c.702C>T (p.Ser234=) c.4149C>T (p.Ser1383=) c.4209C>T (p.Ser1403=) c.3861C>T (p.Ser1287=) c.3690C>T (p.Ser1230=) c.3576C>T (p.Ser1192=) c.3138C>T (p.Ser1046=) n.4406C>T | |
3 | g.47000330A>C | CA352517166 | NBEAL2 | c.4231A>C (p.Asn1411His) c.4129A>C (p.Asn1377His) c.2094A>C c.703A>C (p.Asn235His) c.4150A>C (p.Asn1384His) c.4210A>C (p.Asn1404His) c.3862A>C (p.Asn1288His) c.3691A>C (p.Asn1231His) c.3577A>C (p.Asn1193His) c.3139A>C (p.Asn1047His) n.4407A>C | |
3 | g.47000330A>G | CA352517167 | NBEAL2 | c.4231A>G (p.Asn1411Asp) c.4129A>G (p.Asn1377Asp) c.2094A>G c.703A>G (p.Asn235Asp) c.4150A>G (p.Asn1384Asp) c.4210A>G (p.Asn1404Asp) c.3862A>G (p.Asn1288Asp) c.3691A>G (p.Asn1231Asp) c.3577A>G (p.Asn1193Asp) c.3139A>G (p.Asn1047Asp) n.4407A>G | |
3 | g.47000330A>T | CA352517168 | NBEAL2 | c.4231A>T (p.Asn1411Tyr) c.4129A>T (p.Asn1377Tyr) c.2094A>T c.703A>T (p.Asn235Tyr) c.4150A>T (p.Asn1384Tyr) c.4210A>T (p.Asn1404Tyr) c.3862A>T (p.Asn1288Tyr) c.3691A>T (p.Asn1231Tyr) c.3577A>T (p.Asn1193Tyr) c.3139A>T (p.Asn1047Tyr) n.4407A>T | |
3 | g.47000331A= | CA1362363136 | NBEAL2 | c.4232A= (p.Asn1411=) c.4130A= (p.Asn1377=) c.2095A= c.704A= (p.Asn235=) c.4151A= (p.Asn1384=) c.4211A= (p.Asn1404=) c.3863A= (p.Asn1288=) c.3692A= (p.Asn1231=) c.3578A= (p.Asn1193=) c.3140A= (p.Asn1047=) n.4408A= | |
3 | g.47000331A>C | CA352517170 | NBEAL2 | c.4232A>C (p.Asn1411Thr) c.4130A>C (p.Asn1377Thr) c.2095A>C c.704A>C (p.Asn235Thr) c.4151A>C (p.Asn1384Thr) c.4211A>C (p.Asn1404Thr) c.3863A>C (p.Asn1288Thr) c.3692A>C (p.Asn1231Thr) c.3578A>C (p.Asn1193Thr) c.3140A>C (p.Asn1047Thr) n.4408A>C | |
3 | g.47000331A>G | CA352517171 | NBEAL2 | c.4232A>G (p.Asn1411Ser) c.4130A>G (p.Asn1377Ser) c.2095A>G c.704A>G (p.Asn235Ser) c.4151A>G (p.Asn1384Ser) c.4211A>G (p.Asn1404Ser) c.3863A>G (p.Asn1288Ser) c.3692A>G (p.Asn1231Ser) c.3578A>G (p.Asn1193Ser) c.3140A>G (p.Asn1047Ser) n.4408A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000331A>T | CA352517169 | NBEAL2 | c.4232A>T (p.Asn1411Ile) c.4130A>T (p.Asn1377Ile) c.2095A>T c.704A>T (p.Asn235Ile) c.4151A>T (p.Asn1384Ile) c.4211A>T (p.Asn1404Ile) c.3863A>T (p.Asn1288Ile) c.3692A>T (p.Asn1231Ile) c.3578A>T (p.Asn1193Ile) c.3140A>T (p.Asn1047Ile) n.4408A>T | |
3 | g.47000332T>A | CA352517173 | NBEAL2 | c.4233T>A (p.Asn1411Lys) c.4131T>A (p.Asn1377Lys) c.2096T>A c.705T>A (p.Asn235Lys) c.4152T>A (p.Asn1384Lys) c.4212T>A (p.Asn1404Lys) c.3864T>A (p.Asn1288Lys) c.3693T>A (p.Asn1231Lys) c.3579T>A (p.Asn1193Lys) c.3141T>A (p.Asn1047Lys) n.4409T>A | |
3 | g.47000332T>C | CA433598390 | NBEAL2 | c.4233T>C (p.Asn1411=) c.4131T>C (p.Asn1377=) c.2096T>C c.705T>C (p.Asn235=) c.4152T>C (p.Asn1384=) c.4212T>C (p.Asn1404=) c.3864T>C (p.Asn1288=) c.3693T>C (p.Asn1231=) c.3579T>C (p.Asn1193=) c.3141T>C (p.Asn1047=) n.4409T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000332T>G | CA352517172 | NBEAL2 | c.4233T>G (p.Asn1411Lys) c.4131T>G (p.Asn1377Lys) c.2096T>G c.705T>G (p.Asn235Lys) c.4152T>G (p.Asn1384Lys) c.4212T>G (p.Asn1404Lys) c.3864T>G (p.Asn1288Lys) c.3693T>G (p.Asn1231Lys) c.3579T>G (p.Asn1193Lys) c.3141T>G (p.Asn1047Lys) n.4409T>G | |
3 | g.47000332T= | CA1362363137 | NBEAL2 | c.4233T= (p.Asn1411=) c.4131T= (p.Asn1377=) c.2096T= c.705T= (p.Asn235=) c.4152T= (p.Asn1384=) c.4212T= (p.Asn1404=) c.3864T= (p.Asn1288=) c.3693T= (p.Asn1231=) c.3579T= (p.Asn1193=) c.3141T= (p.Asn1047=) n.4409T= | |
3 | g.47000333G>A | CA352517175 | NBEAL2 | c.4234G>A (p.Val1412Met) c.4132G>A (p.Val1378Met) c.2097G>A c.706G>A (p.Val236Met) c.4153G>A (p.Val1385Met) c.4213G>A (p.Val1405Met) c.3865G>A (p.Val1289Met) c.3694G>A (p.Val1232Met) c.3580G>A (p.Val1194Met) c.3142G>A (p.Val1048Met) n.4410G>A | |
3 | g.47000333G>C | CA352517174 | NBEAL2 | c.4234G>C (p.Val1412Leu) c.4132G>C (p.Val1378Leu) c.2097G>C c.706G>C (p.Val236Leu) c.4153G>C (p.Val1385Leu) c.4213G>C (p.Val1405Leu) c.3865G>C (p.Val1289Leu) c.3694G>C (p.Val1232Leu) c.3580G>C (p.Val1194Leu) c.3142G>C (p.Val1048Leu) n.4410G>C | |
3 | g.47000333G>T | CA352517176 | NBEAL2 | c.4234G>T (p.Val1412Leu) c.4132G>T (p.Val1378Leu) c.2097G>T c.706G>T (p.Val236Leu) c.4153G>T (p.Val1385Leu) c.4213G>T (p.Val1405Leu) c.3865G>T (p.Val1289Leu) c.3694G>T (p.Val1232Leu) c.3580G>T (p.Val1194Leu) c.3142G>T (p.Val1048Leu) n.4410G>T | |
3 | g.47000334T>A | CA352517177 | NBEAL2 | c.4235T>A (p.Val1412Glu) c.4133T>A (p.Val1378Glu) c.2098T>A c.707T>A (p.Val236Glu) c.4154T>A (p.Val1385Glu) c.4214T>A (p.Val1405Glu) c.3866T>A (p.Val1289Glu) c.3695T>A (p.Val1232Glu) c.3581T>A (p.Val1194Glu) c.3143T>A (p.Val1048Glu) n.4411T>A | |
3 | g.47000334T>C | CA352517178 | NBEAL2 | c.4235T>C (p.Val1412Ala) c.4133T>C (p.Val1378Ala) c.2098T>C c.707T>C (p.Val236Ala) c.4154T>C (p.Val1385Ala) c.4214T>C (p.Val1405Ala) c.3866T>C (p.Val1289Ala) c.3695T>C (p.Val1232Ala) c.3581T>C (p.Val1194Ala) c.3143T>C (p.Val1048Ala) n.4411T>C | |
3 | g.47000334T>G | CA352517179 | NBEAL2 | c.4235T>G (p.Val1412Gly) c.4133T>G (p.Val1378Gly) c.2098T>G c.707T>G (p.Val236Gly) c.4154T>G (p.Val1385Gly) c.4214T>G (p.Val1405Gly) c.3866T>G (p.Val1289Gly) c.3695T>G (p.Val1232Gly) c.3581T>G (p.Val1194Gly) c.3143T>G (p.Val1048Gly) n.4411T>G | |
3 | g.47000335G>A | CA433598391 | NBEAL2 | c.4236G>A (p.Val1412=) c.4134G>A (p.Val1378=) c.2099G>A c.708G>A (p.Val236=) c.4155G>A (p.Val1385=) c.4215G>A (p.Val1405=) c.3867G>A (p.Val1289=) c.3696G>A (p.Val1232=) c.3582G>A (p.Val1194=) c.3144G>A (p.Val1048=) n.4412G>A | dbSNP gnomAD v4 |
3 | g.47000335G>C | CA433598392 | NBEAL2 | c.4236G>C (p.Val1412=) c.4134G>C (p.Val1378=) c.2099G>C c.708G>C (p.Val236=) c.4155G>C (p.Val1385=) c.4215G>C (p.Val1405=) c.3867G>C (p.Val1289=) c.3696G>C (p.Val1232=) c.3582G>C (p.Val1194=) c.3144G>C (p.Val1048=) n.4412G>C | |
3 | g.47000335G= | CA1362363138 | NBEAL2 | c.4236G= (p.Val1412=) c.4134G= (p.Val1378=) c.2099G= c.708G= (p.Val236=) c.4155G= (p.Val1385=) c.4215G= (p.Val1405=) c.3867G= (p.Val1289=) c.3696G= (p.Val1232=) c.3582G= (p.Val1194=) c.3144G= (p.Val1048=) n.4412G= | |
3 | g.47000335G>T | CA433598393 | NBEAL2 | c.4236G>T (p.Val1412=) c.4134G>T (p.Val1378=) c.2099G>T c.708G>T (p.Val236=) c.4155G>T (p.Val1385=) c.4215G>T (p.Val1405=) c.3867G>T (p.Val1289=) c.3696G>T (p.Val1232=) c.3582G>T (p.Val1194=) c.3144G>T (p.Val1048=) n.4412G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000336C>A | CA352517180 | NBEAL2 | c.4237C>A (p.Leu1413Met) c.4135C>A (p.Leu1379Met) c.2100C>A c.709C>A (p.Leu237Met) c.4156C>A (p.Leu1386Met) c.4216C>A (p.Leu1406Met) c.3868C>A (p.Leu1290Met) c.3697C>A (p.Leu1233Met) c.3583C>A (p.Leu1195Met) c.3145C>A (p.Leu1049Met) n.4413C>A | |
3 | g.47000336C>G | CA352517181 | NBEAL2 | c.4237C>G (p.Leu1413Val) c.4135C>G (p.Leu1379Val) c.2100C>G c.709C>G (p.Leu237Val) c.4156C>G (p.Leu1386Val) c.4216C>G (p.Leu1406Val) c.3868C>G (p.Leu1290Val) c.3697C>G (p.Leu1233Val) c.3583C>G (p.Leu1195Val) c.3145C>G (p.Leu1049Val) n.4413C>G | gnomAD v4 |
3 | g.47000336C>T | CA433598395 | NBEAL2 | c.4237C>T (p.Leu1413=) c.4135C>T (p.Leu1379=) c.2100C>T c.709C>T (p.Leu237=) c.4156C>T (p.Leu1386=) c.4216C>T (p.Leu1406=) c.3868C>T (p.Leu1290=) c.3697C>T (p.Leu1233=) c.3583C>T (p.Leu1195=) c.3145C>T (p.Leu1049=) n.4413C>T | |
3 | g.47000337T>A | CA352517182 | NBEAL2 | c.4238T>A (p.Leu1413Gln) c.4136T>A (p.Leu1379Gln) c.2101T>A c.710T>A (p.Leu237Gln) c.4157T>A (p.Leu1386Gln) c.4217T>A (p.Leu1406Gln) c.3869T>A (p.Leu1290Gln) c.3698T>A (p.Leu1233Gln) c.3584T>A (p.Leu1195Gln) c.3146T>A (p.Leu1049Gln) n.4414T>A | |
3 | g.47000337T>C | CA2361179 | NBEAL2 | c.4238T>C (p.Leu1413Pro) c.4136T>C (p.Leu1379Pro) c.2101T>C c.710T>C (p.Leu237Pro) c.4157T>C (p.Leu1386Pro) c.4217T>C (p.Leu1406Pro) c.3869T>C (p.Leu1290Pro) c.3698T>C (p.Leu1233Pro) c.3584T>C (p.Leu1195Pro) c.3146T>C (p.Leu1049Pro) n.4414T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000337T>G | CA352517183 | NBEAL2 | c.4238T>G (p.Leu1413Arg) c.4136T>G (p.Leu1379Arg) c.2101T>G c.710T>G (p.Leu237Arg) c.4157T>G (p.Leu1386Arg) c.4217T>G (p.Leu1406Arg) c.3869T>G (p.Leu1290Arg) c.3698T>G (p.Leu1233Arg) c.3584T>G (p.Leu1195Arg) c.3146T>G (p.Leu1049Arg) n.4414T>G | |
3 | g.47000337T= | CA1362363139 | NBEAL2 | c.4238T= (p.Leu1413=) c.4136T= (p.Leu1379=) c.2101T= c.710T= (p.Leu237=) c.4157T= (p.Leu1386=) c.4217T= (p.Leu1406=) c.3869T= (p.Leu1290=) c.3698T= (p.Leu1233=) c.3584T= (p.Leu1195=) c.3146T= (p.Leu1049=) n.4414T= | |
3 | g.47000338G>A | CA433598396 | NBEAL2 | c.4239G>A (p.Leu1413=) c.4137G>A (p.Leu1379=) c.2102G>A c.711G>A (p.Leu237=) c.4158G>A (p.Leu1386=) c.4218G>A (p.Leu1406=) c.3870G>A (p.Leu1290=) c.3699G>A (p.Leu1233=) c.3585G>A (p.Leu1195=) c.3147G>A (p.Leu1049=) n.4415G>A | |
3 | g.47000338G>C | CA433598397 | NBEAL2 | c.4239G>C (p.Leu1413=) c.4137G>C (p.Leu1379=) c.2102G>C c.711G>C (p.Leu237=) c.4158G>C (p.Leu1386=) c.4218G>C (p.Leu1406=) c.3870G>C (p.Leu1290=) c.3699G>C (p.Leu1233=) c.3585G>C (p.Leu1195=) c.3147G>C (p.Leu1049=) n.4415G>C | |
3 | g.47000338G>T | CA433598398 | NBEAL2 | c.4239G>T (p.Leu1413=) c.4137G>T (p.Leu1379=) c.2102G>T c.711G>T (p.Leu237=) c.4158G>T (p.Leu1386=) c.4218G>T (p.Leu1406=) c.3870G>T (p.Leu1290=) c.3699G>T (p.Leu1233=) c.3585G>T (p.Leu1195=) c.3147G>T (p.Leu1049=) n.4415G>T | |
3 | g.47000339G>A | CA352517184 | NBEAL2 | c.4240G>A (p.Glu1414Lys) c.4138G>A (p.Glu1380Lys) c.2103G>A c.712G>A (p.Glu238Lys) c.4159G>A (p.Glu1387Lys) c.4219G>A (p.Glu1407Lys) c.3871G>A (p.Glu1291Lys) c.3700G>A (p.Glu1234Lys) c.3586G>A (p.Glu1196Lys) c.3148G>A (p.Glu1050Lys) n.4416G>A | gnomAD v4 |
3 | g.47000339G>C | CA352517185 | NBEAL2 | c.4240G>C (p.Glu1414Gln) c.4138G>C (p.Glu1380Gln) c.2103G>C c.712G>C (p.Glu238Gln) c.4159G>C (p.Glu1387Gln) c.4219G>C (p.Glu1407Gln) c.3871G>C (p.Glu1291Gln) c.3700G>C (p.Glu1234Gln) c.3586G>C (p.Glu1196Gln) c.3148G>C (p.Glu1050Gln) n.4416G>C | gnomAD v4 |
3 | g.47000339G>T | CA352517186 | NBEAL2 | c.4240G>T (p.Glu1414Ter) c.4138G>T (p.Glu1380Ter) c.2103G>T c.712G>T (p.Glu238Ter) c.4159G>T (p.Glu1387Ter) c.4219G>T (p.Glu1407Ter) c.3871G>T (p.Glu1291Ter) c.3700G>T (p.Glu1234Ter) c.3586G>T (p.Glu1196Ter) c.3148G>T (p.Glu1050Ter) n.4416G>T | |
3 | g.47000340A>C | CA352517189 | NBEAL2 | c.4241A>C (p.Glu1414Ala) c.4139A>C (p.Glu1380Ala) c.2104A>C c.713A>C (p.Glu238Ala) c.4160A>C (p.Glu1387Ala) c.4220A>C (p.Glu1407Ala) c.3872A>C (p.Glu1291Ala) c.3701A>C (p.Glu1234Ala) c.3587A>C (p.Glu1196Ala) c.3149A>C (p.Glu1050Ala) n.4417A>C | |
3 | g.47000340A>G | CA352517187 | NBEAL2 | c.4241A>G (p.Glu1414Gly) c.4139A>G (p.Glu1380Gly) c.2104A>G c.713A>G (p.Glu238Gly) c.4160A>G (p.Glu1387Gly) c.4220A>G (p.Glu1407Gly) c.3872A>G (p.Glu1291Gly) c.3701A>G (p.Glu1234Gly) c.3587A>G (p.Glu1196Gly) c.3149A>G (p.Glu1050Gly) n.4417A>G | |
3 | g.47000340A>T | CA352517188 | NBEAL2 | c.4241A>T (p.Glu1414Val) c.4139A>T (p.Glu1380Val) c.2104A>T c.713A>T (p.Glu238Val) c.4160A>T (p.Glu1387Val) c.4220A>T (p.Glu1407Val) c.3872A>T (p.Glu1291Val) c.3701A>T (p.Glu1234Val) c.3587A>T (p.Glu1196Val) c.3149A>T (p.Glu1050Val) n.4417A>T | |
3 | g.47000341G>A | CA433598402 | NBEAL2 | c.4242G>A (p.Glu1414=) c.4140G>A (p.Glu1380=) c.2105G>A c.714G>A (p.Glu238=) c.4161G>A (p.Glu1387=) c.4221G>A (p.Glu1407=) c.3873G>A (p.Glu1291=) c.3702G>A (p.Glu1234=) c.3588G>A (p.Glu1196=) c.3150G>A (p.Glu1050=) n.4418G>A | |
3 | g.47000341G>C | CA352517190 | NBEAL2 | c.4242G>C (p.Glu1414Asp) c.4140G>C (p.Glu1380Asp) c.2105G>C c.714G>C (p.Glu238Asp) c.4161G>C (p.Glu1387Asp) c.4221G>C (p.Glu1407Asp) c.3873G>C (p.Glu1291Asp) c.3702G>C (p.Glu1234Asp) c.3588G>C (p.Glu1196Asp) c.3150G>C (p.Glu1050Asp) n.4418G>C | |
3 | g.47000341G>T | CA352517191 | NBEAL2 | c.4242G>T (p.Glu1414Asp) c.4140G>T (p.Glu1380Asp) c.2105G>T c.714G>T (p.Glu238Asp) c.4161G>T (p.Glu1387Asp) c.4221G>T (p.Glu1407Asp) c.3873G>T (p.Glu1291Asp) c.3702G>T (p.Glu1234Asp) c.3588G>T (p.Glu1196Asp) c.3150G>T (p.Glu1050Asp) n.4418G>T | |
3 | g.47000342G>A | CA352517192 | NBEAL2 | c.4243G>A (p.Asp1415Asn) c.4141G>A (p.Asp1381Asn) c.2106G>A c.715G>A (p.Asp239Asn) c.4162G>A (p.Asp1388Asn) c.4222G>A (p.Asp1408Asn) c.3874G>A (p.Asp1292Asn) c.3703G>A (p.Asp1235Asn) c.3589G>A (p.Asp1197Asn) c.3151G>A (p.Asp1051Asn) n.4419G>A | |
3 | g.47000342G>C | CA352517193 | NBEAL2 | c.4243G>C (p.Asp1415His) c.4141G>C (p.Asp1381His) c.2106G>C c.715G>C (p.Asp239His) c.4162G>C (p.Asp1388His) c.4222G>C (p.Asp1408His) c.3874G>C (p.Asp1292His) c.3703G>C (p.Asp1235His) c.3589G>C (p.Asp1197His) c.3151G>C (p.Asp1051His) n.4419G>C | |
3 | g.47000342G= | CA1362363140 | NBEAL2 | c.4243G= (p.Asp1415=) c.4141G= (p.Asp1381=) c.2106G= c.715G= (p.Asp239=) c.4162G= (p.Asp1388=) c.4222G= (p.Asp1408=) c.3874G= (p.Asp1292=) c.3703G= (p.Asp1235=) c.3589G= (p.Asp1197=) c.3151G= (p.Asp1051=) n.4419G= | |
3 | g.47000342G>T | CA352517194 | NBEAL2 | c.4243G>T (p.Asp1415Tyr) c.4141G>T (p.Asp1381Tyr) c.2106G>T c.715G>T (p.Asp239Tyr) c.4162G>T (p.Asp1388Tyr) c.4222G>T (p.Asp1408Tyr) c.3874G>T (p.Asp1292Tyr) c.3703G>T (p.Asp1235Tyr) c.3589G>T (p.Asp1197Tyr) c.3151G>T (p.Asp1051Tyr) n.4419G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000343A= | CA1362363141 | NBEAL2 | c.4244A= (p.Asp1415=) c.4142A= (p.Asp1381=) c.2107A= c.716A= (p.Asp239=) c.4163A= (p.Asp1388=) c.4223A= (p.Asp1408=) c.3875A= (p.Asp1292=) c.3704A= (p.Asp1235=) c.3590A= (p.Asp1197=) c.3152A= (p.Asp1051=) n.4420A= | |
3 | g.47000343A>C | CA352517195 | NBEAL2 | c.4244A>C (p.Asp1415Ala) c.4142A>C (p.Asp1381Ala) c.2107A>C c.716A>C (p.Asp239Ala) c.4163A>C (p.Asp1388Ala) c.4223A>C (p.Asp1408Ala) c.3875A>C (p.Asp1292Ala) c.3704A>C (p.Asp1235Ala) c.3590A>C (p.Asp1197Ala) c.3152A>C (p.Asp1051Ala) n.4420A>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000343A>G | CA352517196 | NBEAL2 | c.4244A>G (p.Asp1415Gly) c.4142A>G (p.Asp1381Gly) c.2107A>G c.716A>G (p.Asp239Gly) c.4163A>G (p.Asp1388Gly) c.4223A>G (p.Asp1408Gly) c.3875A>G (p.Asp1292Gly) c.3704A>G (p.Asp1235Gly) c.3590A>G (p.Asp1197Gly) c.3152A>G (p.Asp1051Gly) n.4420A>G | gnomAD v4 |
3 | g.47000343A>T | CA352517197 | NBEAL2 | c.4244A>T (p.Asp1415Val) c.4142A>T (p.Asp1381Val) c.2107A>T c.716A>T (p.Asp239Val) c.4163A>T (p.Asp1388Val) c.4223A>T (p.Asp1408Val) c.3875A>T (p.Asp1292Val) c.3704A>T (p.Asp1235Val) c.3590A>T (p.Asp1197Val) c.3152A>T (p.Asp1051Val) n.4420A>T | |
3 | g.47000344C>A | CA352517198 | NBEAL2 | c.4245C>A (p.Asp1415Glu) c.4143C>A (p.Asp1381Glu) c.2108C>A c.717C>A (p.Asp239Glu) c.4164C>A (p.Asp1388Glu) c.4224C>A (p.Asp1408Glu) c.3876C>A (p.Asp1292Glu) c.3705C>A (p.Asp1235Glu) c.3591C>A (p.Asp1197Glu) c.3153C>A (p.Asp1051Glu) n.4421C>A | gnomAD v4 |
3 | g.47000344C= | CA1362363142 | NBEAL2 | c.4245C= (p.Asp1415=) c.4143C= (p.Asp1381=) c.2108C= c.717C= (p.Asp239=) c.4164C= (p.Asp1388=) c.4224C= (p.Asp1408=) c.3876C= (p.Asp1292=) c.3705C= (p.Asp1235=) c.3591C= (p.Asp1197=) c.3153C= (p.Asp1051=) n.4421C= | |
3 | g.47000344C>G | CA352517199 | NBEAL2 | c.4245C>G (p.Asp1415Glu) c.4143C>G (p.Asp1381Glu) c.2108C>G c.717C>G (p.Asp239Glu) c.4164C>G (p.Asp1388Glu) c.4224C>G (p.Asp1408Glu) c.3876C>G (p.Asp1292Glu) c.3705C>G (p.Asp1235Glu) c.3591C>G (p.Asp1197Glu) c.3153C>G (p.Asp1051Glu) n.4421C>G | |
3 | g.47000344C>T | CA2361180 | NBEAL2 | c.4245C>T (p.Asp1415=) c.4143C>T (p.Asp1381=) c.2108C>T c.717C>T (p.Asp239=) c.4164C>T (p.Asp1388=) c.4224C>T (p.Asp1408=) c.3876C>T (p.Asp1292=) c.3705C>T (p.Asp1235=) c.3591C>T (p.Asp1197=) c.3153C>T (p.Asp1051=) n.4421C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000345G>A | CA2361181 | NBEAL2 | c.4246G>A (p.Gly1416Ser) c.4144G>A (p.Gly1382Ser) c.2109G>A c.718G>A (p.Gly240Ser) c.4165G>A (p.Gly1389Ser) c.4225G>A (p.Gly1409Ser) c.3877G>A (p.Gly1293Ser) c.3706G>A (p.Gly1236Ser) c.3592G>A (p.Gly1198Ser) c.3154G>A (p.Gly1052Ser) n.4422G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000345G>C | CA352517201 | NBEAL2 | c.4246G>C (p.Gly1416Arg) c.4144G>C (p.Gly1382Arg) c.2109G>C c.718G>C (p.Gly240Arg) c.4165G>C (p.Gly1389Arg) c.4225G>C (p.Gly1409Arg) c.3877G>C (p.Gly1293Arg) c.3706G>C (p.Gly1236Arg) c.3592G>C (p.Gly1198Arg) c.3154G>C (p.Gly1052Arg) n.4422G>C | gnomAD v4 |
3 | g.47000345G= | CA1362363143 | NBEAL2 | c.4246G= (p.Gly1416=) c.4144G= (p.Gly1382=) c.2109G= c.718G= (p.Gly240=) c.4165G= (p.Gly1389=) c.4225G= (p.Gly1409=) c.3877G= (p.Gly1293=) c.3706G= (p.Gly1236=) c.3592G= (p.Gly1198=) c.3154G= (p.Gly1052=) n.4422G= | |
3 | g.47000345G>T | CA352517200 | NBEAL2 | c.4246G>T (p.Gly1416Cys) c.4144G>T (p.Gly1382Cys) c.2109G>T c.718G>T (p.Gly240Cys) c.4165G>T (p.Gly1389Cys) c.4225G>T (p.Gly1409Cys) c.3877G>T (p.Gly1293Cys) c.3706G>T (p.Gly1236Cys) c.3592G>T (p.Gly1198Cys) c.3154G>T (p.Gly1052Cys) n.4422G>T | gnomAD v4 |
3 | g.47000346G>A | CA352517202 | NBEAL2 | c.4247G>A (p.Gly1416Asp) c.4145G>A (p.Gly1382Asp) c.2110G>A c.719G>A (p.Gly240Asp) c.4166G>A (p.Gly1389Asp) c.4226G>A (p.Gly1409Asp) c.3878G>A (p.Gly1293Asp) c.3707G>A (p.Gly1236Asp) c.3593G>A (p.Gly1198Asp) c.3155G>A (p.Gly1052Asp) n.4423G>A | gnomAD v4 COSMIC COSMIC |
3 | g.47000346G>C | CA352517203 | NBEAL2 | c.4247G>C (p.Gly1416Ala) c.4145G>C (p.Gly1382Ala) c.2110G>C c.719G>C (p.Gly240Ala) c.4166G>C (p.Gly1389Ala) c.4226G>C (p.Gly1409Ala) c.3878G>C (p.Gly1293Ala) c.3707G>C (p.Gly1236Ala) c.3593G>C (p.Gly1198Ala) c.3155G>C (p.Gly1052Ala) n.4423G>C | |
3 | g.47000346G>T | CA352517204 | NBEAL2 | c.4247G>T (p.Gly1416Val) c.4145G>T (p.Gly1382Val) c.2110G>T c.719G>T (p.Gly240Val) c.4166G>T (p.Gly1389Val) c.4226G>T (p.Gly1409Val) c.3878G>T (p.Gly1293Val) c.3707G>T (p.Gly1236Val) c.3593G>T (p.Gly1198Val) c.3155G>T (p.Gly1052Val) n.4423G>T | |
3 | g.47000347C>A | CA433598406 | NBEAL2 | c.4248C>A (p.Gly1416=) c.4146C>A (p.Gly1382=) c.2111C>A c.720C>A (p.Gly240=) c.4167C>A (p.Gly1389=) c.4227C>A (p.Gly1409=) c.3879C>A (p.Gly1293=) c.3708C>A (p.Gly1236=) c.3594C>A (p.Gly1198=) c.3156C>A (p.Gly1052=) n.4424C>A | gnomAD v4 |
3 | g.47000347C= | CA1362363144 | NBEAL2 | c.4248C= (p.Gly1416=) c.4146C= (p.Gly1382=) c.2111C= c.720C= (p.Gly240=) c.4167C= (p.Gly1389=) c.4227C= (p.Gly1409=) c.3879C= (p.Gly1293=) c.3708C= (p.Gly1236=) c.3594C= (p.Gly1198=) c.3156C= (p.Gly1052=) n.4424C= | |
3 | g.47000347C>G | CA433598408 | NBEAL2 | c.4248C>G (p.Gly1416=) c.4146C>G (p.Gly1382=) c.2111C>G c.720C>G (p.Gly240=) c.4167C>G (p.Gly1389=) c.4227C>G (p.Gly1409=) c.3879C>G (p.Gly1293=) c.3708C>G (p.Gly1236=) c.3594C>G (p.Gly1198=) c.3156C>G (p.Gly1052=) n.4424C>G | |
3 | g.47000347C>T | CA2361182 | NBEAL2 | c.4248C>T (p.Gly1416=) c.4146C>T (p.Gly1382=) c.2111C>T c.720C>T (p.Gly240=) c.4167C>T (p.Gly1389=) c.4227C>T (p.Gly1409=) c.3879C>T (p.Gly1293=) c.3708C>T (p.Gly1236=) c.3594C>T (p.Gly1198=) c.3156C>T (p.Gly1052=) n.4424C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000348A>C | CA352517205 | NBEAL2 | c.4249A>C (p.Ser1417Arg) c.4147A>C (p.Ser1383Arg) c.2112A>C c.721A>C (p.Ser241Arg) c.4168A>C (p.Ser1390Arg) c.4228A>C (p.Ser1410Arg) c.3880A>C (p.Ser1294Arg) c.3709A>C (p.Ser1237Arg) c.3595A>C (p.Ser1199Arg) c.3157A>C (p.Ser1053Arg) n.4425A>C | |
3 | g.47000348A>G | CA352517206 | NBEAL2 | c.4249A>G (p.Ser1417Gly) c.4147A>G (p.Ser1383Gly) c.2112A>G c.721A>G (p.Ser241Gly) c.4168A>G (p.Ser1390Gly) c.4228A>G (p.Ser1410Gly) c.3880A>G (p.Ser1294Gly) c.3709A>G (p.Ser1237Gly) c.3595A>G (p.Ser1199Gly) c.3157A>G (p.Ser1053Gly) n.4425A>G | |
3 | g.47000348A>T | CA352517207 | NBEAL2 | c.4249A>T (p.Ser1417Cys) c.4147A>T (p.Ser1383Cys) c.2112A>T c.721A>T (p.Ser241Cys) c.4168A>T (p.Ser1390Cys) c.4228A>T (p.Ser1410Cys) c.3880A>T (p.Ser1294Cys) c.3709A>T (p.Ser1237Cys) c.3595A>T (p.Ser1199Cys) c.3157A>T (p.Ser1053Cys) n.4425A>T | |
3 | g.47000349G>A | CA352517208 | NBEAL2 | c.4250G>A (p.Ser1417Asn) c.4148G>A (p.Ser1383Asn) c.2113G>A c.722G>A (p.Ser241Asn) c.4169G>A (p.Ser1390Asn) c.4229G>A (p.Ser1410Asn) c.3881G>A (p.Ser1294Asn) c.3710G>A (p.Ser1237Asn) c.3596G>A (p.Ser1199Asn) c.3158G>A (p.Ser1053Asn) n.4426G>A | gnomAD v4 |
3 | g.47000349G>C | CA352517209 | NBEAL2 | c.4250G>C (p.Ser1417Thr) c.4148G>C (p.Ser1383Thr) c.2113G>C c.722G>C (p.Ser241Thr) c.4169G>C (p.Ser1390Thr) c.4229G>C (p.Ser1410Thr) c.3881G>C (p.Ser1294Thr) c.3710G>C (p.Ser1237Thr) c.3596G>C (p.Ser1199Thr) c.3158G>C (p.Ser1053Thr) n.4426G>C | |
3 | g.47000349G>T | CA352517210 | NBEAL2 | c.4250G>T (p.Ser1417Ile) c.4148G>T (p.Ser1383Ile) c.2113G>T c.722G>T (p.Ser241Ile) c.4169G>T (p.Ser1390Ile) c.4229G>T (p.Ser1410Ile) c.3881G>T (p.Ser1294Ile) c.3710G>T (p.Ser1237Ile) c.3596G>T (p.Ser1199Ile) c.3158G>T (p.Ser1053Ile) n.4426G>T | |
3 | g.47000350C>A | CA352517211 | NBEAL2 | c.4251C>A (p.Ser1417Arg) c.4149C>A (p.Ser1383Arg) c.2114C>A c.723C>A (p.Ser241Arg) c.4170C>A (p.Ser1390Arg) c.4230C>A (p.Ser1410Arg) c.3882C>A (p.Ser1294Arg) c.3711C>A (p.Ser1237Arg) c.3597C>A (p.Ser1199Arg) c.3159C>A (p.Ser1053Arg) n.4427C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000350C= | CA1362363145 | NBEAL2 | c.4251C= (p.Ser1417=) c.4149C= (p.Ser1383=) c.2114C= c.723C= (p.Ser241=) c.4170C= (p.Ser1390=) c.4230C= (p.Ser1410=) c.3882C= (p.Ser1294=) c.3711C= (p.Ser1237=) c.3597C= (p.Ser1199=) c.3159C= (p.Ser1053=) n.4427C= | |
3 | g.47000350C>G | CA352517212 | NBEAL2 | c.4251C>G (p.Ser1417Arg) c.4149C>G (p.Ser1383Arg) c.2114C>G c.723C>G (p.Ser241Arg) c.4170C>G (p.Ser1390Arg) c.4230C>G (p.Ser1410Arg) c.3882C>G (p.Ser1294Arg) c.3711C>G (p.Ser1237Arg) c.3597C>G (p.Ser1199Arg) c.3159C>G (p.Ser1053Arg) n.4427C>G | |
3 | g.47000350C>T | CA433598411 | NBEAL2 | c.4251C>T (p.Ser1417=) c.4149C>T (p.Ser1383=) c.2114C>T c.723C>T (p.Ser241=) c.4170C>T (p.Ser1390=) c.4230C>T (p.Ser1410=) c.3882C>T (p.Ser1294=) c.3711C>T (p.Ser1237=) c.3597C>T (p.Ser1199=) c.3159C>T (p.Ser1053=) n.4427C>T | gnomAD v4 |
3 | g.47000351C>A | CA352517215 | NBEAL2 | c.4252C>A (p.Leu1418Ile) c.4150C>A (p.Leu1384Ile) c.2115C>A c.724C>A (p.Leu242Ile) c.4171C>A (p.Leu1391Ile) c.4231C>A (p.Leu1411Ile) c.3883C>A (p.Leu1295Ile) c.3712C>A (p.Leu1238Ile) c.3598C>A (p.Leu1200Ile) c.3160C>A (p.Leu1054Ile) n.4428C>A | |
3 | g.47000351C>G | CA352517213 | NBEAL2 | c.4252C>G (p.Leu1418Val) c.4150C>G (p.Leu1384Val) c.2115C>G c.724C>G (p.Leu242Val) c.4171C>G (p.Leu1391Val) c.4231C>G (p.Leu1411Val) c.3883C>G (p.Leu1295Val) c.3712C>G (p.Leu1238Val) c.3598C>G (p.Leu1200Val) c.3160C>G (p.Leu1054Val) n.4428C>G | |
3 | g.47000351C>T | CA352517214 | NBEAL2 | c.4252C>T (p.Leu1418Phe) c.4150C>T (p.Leu1384Phe) c.2115C>T c.724C>T (p.Leu242Phe) c.4171C>T (p.Leu1391Phe) c.4231C>T (p.Leu1411Phe) c.3883C>T (p.Leu1295Phe) c.3712C>T (p.Leu1238Phe) c.3598C>T (p.Leu1200Phe) c.3160C>T (p.Leu1054Phe) n.4428C>T | gnomAD v4 |
3 | g.47000352T>A | CA352517216 | NBEAL2 | c.4253T>A (p.Leu1418His) c.4151T>A (p.Leu1384His) c.2116T>A c.725T>A (p.Leu242His) c.4172T>A (p.Leu1391His) c.4232T>A (p.Leu1411His) c.3884T>A (p.Leu1295His) c.3713T>A (p.Leu1238His) c.3599T>A (p.Leu1200His) c.3161T>A (p.Leu1054His) n.4429T>A | |
3 | g.47000352T>C | CA352517217 | NBEAL2 | c.4253T>C (p.Leu1418Pro) c.4151T>C (p.Leu1384Pro) c.2116T>C c.725T>C (p.Leu242Pro) c.4172T>C (p.Leu1391Pro) c.4232T>C (p.Leu1411Pro) c.3884T>C (p.Leu1295Pro) c.3713T>C (p.Leu1238Pro) c.3599T>C (p.Leu1200Pro) c.3161T>C (p.Leu1054Pro) n.4429T>C | |
3 | g.47000352T>G | CA352517218 | NBEAL2 | c.4253T>G (p.Leu1418Arg) c.4151T>G (p.Leu1384Arg) c.2116T>G c.725T>G (p.Leu242Arg) c.4172T>G (p.Leu1391Arg) c.4232T>G (p.Leu1411Arg) c.3884T>G (p.Leu1295Arg) c.3713T>G (p.Leu1238Arg) c.3599T>G (p.Leu1200Arg) c.3161T>G (p.Leu1054Arg) n.4429T>G | |
3 | g.47000353C>A | CA433598416 | NBEAL2 | c.4254C>A (p.Leu1418=) c.4152C>A (p.Leu1384=) c.2117C>A c.726C>A (p.Leu242=) c.4173C>A (p.Leu1391=) c.4233C>A (p.Leu1411=) c.3885C>A (p.Leu1295=) c.3714C>A (p.Leu1238=) c.3600C>A (p.Leu1200=) c.3162C>A (p.Leu1054=) n.4430C>A | |
3 | g.47000353C>G | CA433598417 | NBEAL2 | c.4254C>G (p.Leu1418=) c.4152C>G (p.Leu1384=) c.2117C>G c.726C>G (p.Leu242=) c.4173C>G (p.Leu1391=) c.4233C>G (p.Leu1411=) c.3885C>G (p.Leu1295=) c.3714C>G (p.Leu1238=) c.3600C>G (p.Leu1200=) c.3162C>G (p.Leu1054=) n.4430C>G | |
3 | g.47000353C>T | CA433598419 | NBEAL2 | c.4254C>T (p.Leu1418=) c.4152C>T (p.Leu1384=) c.2117C>T c.726C>T (p.Leu242=) c.4173C>T (p.Leu1391=) c.4233C>T (p.Leu1411=) c.3885C>T (p.Leu1295=) c.3714C>T (p.Leu1238=) c.3600C>T (p.Leu1200=) c.3162C>T (p.Leu1054=) n.4430C>T | gnomAD v4 |
3 | g.47000354C>A | CA352517219 | NBEAL2 | c.4255C>A (p.Pro1419Thr) c.4153C>A (p.Pro1385Thr) c.2118C>A c.727C>A (p.Pro243Thr) c.4174C>A (p.Pro1392Thr) c.4234C>A (p.Pro1412Thr) c.3886C>A (p.Pro1296Thr) c.3715C>A (p.Pro1239Thr) c.3601C>A (p.Pro1201Thr) c.3163C>A (p.Pro1055Thr) n.4431C>A | |
3 | g.47000354C>G | CA352517220 | NBEAL2 | c.4255C>G (p.Pro1419Ala) c.4153C>G (p.Pro1385Ala) c.2118C>G c.727C>G (p.Pro243Ala) c.4174C>G (p.Pro1392Ala) c.4234C>G (p.Pro1412Ala) c.3886C>G (p.Pro1296Ala) c.3715C>G (p.Pro1239Ala) c.3601C>G (p.Pro1201Ala) c.3163C>G (p.Pro1055Ala) n.4431C>G | |
3 | g.47000354C>T | CA352517221 | NBEAL2 | c.4255C>T (p.Pro1419Ser) c.4153C>T (p.Pro1385Ser) c.2118C>T c.727C>T (p.Pro243Ser) c.4174C>T (p.Pro1392Ser) c.4234C>T (p.Pro1412Ser) c.3886C>T (p.Pro1296Ser) c.3715C>T (p.Pro1239Ser) c.3601C>T (p.Pro1201Ser) c.3163C>T (p.Pro1055Ser) n.4431C>T | |
3 | g.47000355C>A | CA352517222 | NBEAL2 | c.4256C>A (p.Pro1419Gln) c.4154C>A (p.Pro1385Gln) c.2119C>A c.728C>A (p.Pro243Gln) c.4175C>A (p.Pro1392Gln) c.4235C>A (p.Pro1412Gln) c.3887C>A (p.Pro1296Gln) c.3716C>A (p.Pro1239Gln) c.3602C>A (p.Pro1201Gln) c.3164C>A (p.Pro1055Gln) n.4432C>A | |
3 | g.47000355C= | CA1362363146 | NBEAL2 | c.4256C= (p.Pro1419=) c.4154C= (p.Pro1385=) c.2119C= c.728C= (p.Pro243=) c.4175C= (p.Pro1392=) c.4235C= (p.Pro1412=) c.3887C= (p.Pro1296=) c.3716C= (p.Pro1239=) c.3602C= (p.Pro1201=) c.3164C= (p.Pro1055=) n.4432C= | |
3 | g.47000355C>G | CA2361183 | NBEAL2 | c.4256C>G (p.Pro1419Arg) c.4154C>G (p.Pro1385Arg) c.2119C>G c.728C>G (p.Pro243Arg) c.4175C>G (p.Pro1392Arg) c.4235C>G (p.Pro1412Arg) c.3887C>G (p.Pro1296Arg) c.3716C>G (p.Pro1239Arg) c.3602C>G (p.Pro1201Arg) c.3164C>G (p.Pro1055Arg) n.4432C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000355C>T | CA2361184 | NBEAL2 | c.4256C>T (p.Pro1419Leu) c.4154C>T (p.Pro1385Leu) c.2119C>T c.728C>T (p.Pro243Leu) c.4175C>T (p.Pro1392Leu) c.4235C>T (p.Pro1412Leu) c.3887C>T (p.Pro1296Leu) c.3716C>T (p.Pro1239Leu) c.3602C>T (p.Pro1201Leu) c.3164C>T (p.Pro1055Leu) n.4432C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000356G>A | CA2361185 | NBEAL2 | c.4257G>A (p.Pro1419=) c.4155G>A (p.Pro1385=) c.2120G>A c.729G>A (p.Pro243=) c.4176G>A (p.Pro1392=) c.4236G>A (p.Pro1412=) c.3888G>A (p.Pro1296=) c.3717G>A (p.Pro1239=) c.3603G>A (p.Pro1201=) c.3165G>A (p.Pro1055=) n.4433G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000356G>C | CA433598423 | NBEAL2 | c.4257G>C (p.Pro1419=) c.4155G>C (p.Pro1385=) c.2120G>C c.729G>C (p.Pro243=) c.4176G>C (p.Pro1392=) c.4236G>C (p.Pro1412=) c.3888G>C (p.Pro1296=) c.3717G>C (p.Pro1239=) c.3603G>C (p.Pro1201=) c.3165G>C (p.Pro1055=) n.4433G>C | gnomAD v4 |
3 | g.47000356G= | CA1362363147 | NBEAL2 | c.4257G= (p.Pro1419=) c.4155G= (p.Pro1385=) c.2120G= c.729G= (p.Pro243=) c.4176G= (p.Pro1392=) c.4236G= (p.Pro1412=) c.3888G= (p.Pro1296=) c.3717G= (p.Pro1239=) c.3603G= (p.Pro1201=) c.3165G= (p.Pro1055=) n.4433G= | |
3 | g.47000356G>T | CA433598424 | NBEAL2 | c.4257G>T (p.Pro1419=) c.4155G>T (p.Pro1385=) c.2120G>T c.729G>T (p.Pro243=) c.4176G>T (p.Pro1392=) c.4236G>T (p.Pro1412=) c.3888G>T (p.Pro1296=) c.3717G>T (p.Pro1239=) c.3603G>T (p.Pro1201=) c.3165G>T (p.Pro1055=) n.4433G>T | |
3 | g.47000357G>A | CA352517223 | NBEAL2 | c.4258G>A (p.Glu1420Lys) c.4156G>A (p.Glu1386Lys) c.2121G>A c.730G>A (p.Glu244Lys) c.4177G>A (p.Glu1393Lys) c.4237G>A (p.Glu1413Lys) c.3889G>A (p.Glu1297Lys) c.3718G>A (p.Glu1240Lys) c.3604G>A (p.Glu1202Lys) c.3166G>A (p.Glu1056Lys) n.4434G>A | |
3 | g.47000357G>C | CA352517224 | NBEAL2 | c.4258G>C (p.Glu1420Gln) c.4156G>C (p.Glu1386Gln) c.2121G>C c.730G>C (p.Glu244Gln) c.4177G>C (p.Glu1393Gln) c.4237G>C (p.Glu1413Gln) c.3889G>C (p.Glu1297Gln) c.3718G>C (p.Glu1240Gln) c.3604G>C (p.Glu1202Gln) c.3166G>C (p.Glu1056Gln) n.4434G>C | |
3 | g.47000357G>T | CA352517225 | NBEAL2 | c.4258G>T (p.Glu1420Ter) c.4156G>T (p.Glu1386Ter) c.2121G>T c.730G>T (p.Glu244Ter) c.4177G>T (p.Glu1393Ter) c.4237G>T (p.Glu1413Ter) c.3889G>T (p.Glu1297Ter) c.3718G>T (p.Glu1240Ter) c.3604G>T (p.Glu1202Ter) c.3166G>T (p.Glu1056Ter) n.4434G>T | |
3 | g.47000358A>C | CA352517227 | NBEAL2 | c.4259A>C (p.Glu1420Ala) c.4157A>C (p.Glu1386Ala) c.2122A>C c.731A>C (p.Glu244Ala) c.4178A>C (p.Glu1393Ala) c.4238A>C (p.Glu1413Ala) c.3890A>C (p.Glu1297Ala) c.3719A>C (p.Glu1240Ala) c.3605A>C (p.Glu1202Ala) c.3167A>C (p.Glu1056Ala) n.4435A>C | |
3 | g.47000358A>G | CA352517228 | NBEAL2 | c.4259A>G (p.Glu1420Gly) c.4157A>G (p.Glu1386Gly) c.2122A>G c.731A>G (p.Glu244Gly) c.4178A>G (p.Glu1393Gly) c.4238A>G (p.Glu1413Gly) c.3890A>G (p.Glu1297Gly) c.3719A>G (p.Glu1240Gly) c.3605A>G (p.Glu1202Gly) c.3167A>G (p.Glu1056Gly) n.4435A>G | |
3 | g.47000358A>T | CA352517226 | NBEAL2 | c.4259A>T (p.Glu1420Val) c.4157A>T (p.Glu1386Val) c.2122A>T c.731A>T (p.Glu244Val) c.4178A>T (p.Glu1393Val) c.4238A>T (p.Glu1413Val) c.3890A>T (p.Glu1297Val) c.3719A>T (p.Glu1240Val) c.3605A>T (p.Glu1202Val) c.3167A>T (p.Glu1056Val) n.4435A>T | |
3 | g.47000359G>A | CA433598426 | NBEAL2 | c.4260G>A (p.Glu1420=) c.4158G>A (p.Glu1386=) c.2123G>A c.732G>A (p.Glu244=) c.4179G>A (p.Glu1393=) c.4239G>A (p.Glu1413=) c.3891G>A (p.Glu1297=) c.3720G>A (p.Glu1240=) c.3606G>A (p.Glu1202=) c.3168G>A (p.Glu1056=) n.4436G>A | |
3 | g.47000359G>C | CA2361186 | NBEAL2 | c.4260G>C (p.Glu1420Asp) c.4158G>C (p.Glu1386Asp) c.2123G>C c.732G>C (p.Glu244Asp) c.4179G>C (p.Glu1393Asp) c.4239G>C (p.Glu1413Asp) c.3891G>C (p.Glu1297Asp) c.3720G>C (p.Glu1240Asp) c.3606G>C (p.Glu1202Asp) c.3168G>C (p.Glu1056Asp) n.4436G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000359G= | CA1362363148 | NBEAL2 | c.4260G= (p.Glu1420=) c.4158G= (p.Glu1386=) c.2123G= c.732G= (p.Glu244=) c.4179G= (p.Glu1393=) c.4239G= (p.Glu1413=) c.3891G= (p.Glu1297=) c.3720G= (p.Glu1240=) c.3606G= (p.Glu1202=) c.3168G= (p.Glu1056=) n.4436G= | |
3 | g.47000359G>T | CA352517229 | NBEAL2 | c.4260G>T (p.Glu1420Asp) c.4158G>T (p.Glu1386Asp) c.2123G>T c.732G>T (p.Glu244Asp) c.4179G>T (p.Glu1393Asp) c.4239G>T (p.Glu1413Asp) c.3891G>T (p.Glu1297Asp) c.3720G>T (p.Glu1240Asp) c.3606G>T (p.Glu1202Asp) c.3168G>T (p.Glu1056Asp) n.4436G>T | |
3 | g.47000359dup | CA2665493271 | NBEAL2 | c.4260dup (p.Pro1421AlafsTer4) c.4158dup (p.Pro1387AlafsTer4) c.2123dup c.732dup (p.Pro245AlafsTer4) c.4179dup (p.Pro1394AlafsTer4) c.4239dup (p.Pro1414AlafsTer4) c.3891dup (p.Pro1298AlafsTer4) c.3720dup (p.Pro1241AlafsTer4) c.3606dup (p.Pro1203AlafsTer4) c.3168dup (p.Pro1057AlafsTer4) n.4436dup | gnomAD v4 |
3 | g.47000360C>A | CA352517230 | NBEAL2 | c.4261C>A (p.Pro1421Thr) c.4159C>A (p.Pro1387Thr) c.2124C>A c.733C>A (p.Pro245Thr) c.4180C>A (p.Pro1394Thr) c.4240C>A (p.Pro1414Thr) c.3892C>A (p.Pro1298Thr) c.3721C>A (p.Pro1241Thr) c.3607C>A (p.Pro1203Thr) c.3169C>A (p.Pro1057Thr) n.4437C>A | |
3 | g.47000360C= | CA1362363149 | NBEAL2 | c.4261C= (p.Pro1421=) c.4159C= (p.Pro1387=) c.2124C= c.733C= (p.Pro245=) c.4180C= (p.Pro1394=) c.4240C= (p.Pro1414=) c.3892C= (p.Pro1298=) c.3721C= (p.Pro1241=) c.3607C= (p.Pro1203=) c.3169C= (p.Pro1057=) n.4437C= | |
3 | g.47000360C>G | CA352517231 | NBEAL2 | c.4261C>G (p.Pro1421Ala) c.4159C>G (p.Pro1387Ala) c.2124C>G c.733C>G (p.Pro245Ala) c.4180C>G (p.Pro1394Ala) c.4240C>G (p.Pro1414Ala) c.3892C>G (p.Pro1298Ala) c.3721C>G (p.Pro1241Ala) c.3607C>G (p.Pro1203Ala) c.3169C>G (p.Pro1057Ala) n.4437C>G | |
3 | g.47000360C>T | CA2361187 | NBEAL2 | c.4261C>T (p.Pro1421Ser) c.4159C>T (p.Pro1387Ser) c.2124C>T c.733C>T (p.Pro245Ser) c.4180C>T (p.Pro1394Ser) c.4240C>T (p.Pro1414Ser) c.3892C>T (p.Pro1298Ser) c.3721C>T (p.Pro1241Ser) c.3607C>T (p.Pro1203Ser) c.3169C>T (p.Pro1057Ser) n.4437C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000360_47000363delinsCCCA | CA1362363150 | NBEAL2 | c.4261_4264delinsCCCA (p.Pro1421=) c.4159_4162delinsCCCA (p.Pro1387=) c.2124_2127delinsCCCA c.733_736delinsCCCA (p.Pro245=) c.4180_4183delinsCCCA (p.Pro1394=) c.4240_4243delinsCCCA (p.Pro1414=) c.3892_3895delinsCCCA (p.Pro1298=) c.3721_3724delinsCCCA (p.Pro1241=) c.3607_3610delinsCCCA (p.Pro1203=) c.3169_3172delinsCCCA (p.Pro1057=) n.4437_4440delinsCCCA | |
3 | g.47000361C>A | CA2361189 | NBEAL2 | c.4262C>A (p.Pro1421His) c.4160C>A (p.Pro1387His) c.2125C>A c.734C>A (p.Pro245His) c.4181C>A (p.Pro1394His) c.4241C>A (p.Pro1414His) c.3893C>A (p.Pro1298His) c.3722C>A (p.Pro1241His) c.3608C>A (p.Pro1203His) c.3170C>A (p.Pro1057His) n.4438C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000361C= | CA1362363151 | NBEAL2 | c.4262C= (p.Pro1421=) c.4160C= (p.Pro1387=) c.2125C= c.734C= (p.Pro245=) c.4181C= (p.Pro1394=) c.4241C= (p.Pro1414=) c.3893C= (p.Pro1298=) c.3722C= (p.Pro1241=) c.3608C= (p.Pro1203=) c.3170C= (p.Pro1057=) n.4438C= | |
3 | g.47000361C>G | CA2361188 | NBEAL2 | c.4262C>G (p.Pro1421Arg) c.4160C>G (p.Pro1387Arg) c.2125C>G c.734C>G (p.Pro245Arg) c.4181C>G (p.Pro1394Arg) c.4241C>G (p.Pro1414Arg) c.3893C>G (p.Pro1298Arg) c.3722C>G (p.Pro1241Arg) c.3608C>G (p.Pro1203Arg) c.3170C>G (p.Pro1057Arg) n.4438C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000361C>T | CA352517232 | NBEAL2 | c.4262C>T (p.Pro1421Leu) c.4160C>T (p.Pro1387Leu) c.2125C>T c.734C>T (p.Pro245Leu) c.4181C>T (p.Pro1394Leu) c.4241C>T (p.Pro1414Leu) c.3893C>T (p.Pro1298Leu) c.3722C>T (p.Pro1241Leu) c.3608C>T (p.Pro1203Leu) c.3170C>T (p.Pro1057Leu) n.4438C>T | |
3 | g.47000364_47000366del | CA543042236 | NBEAL2 | c.4265_4267del (p.Thr1422del) c.4163_4165del (p.Thr1388del) c.2128_2130del c.737_739del (p.Thr246del) c.4184_4186del (p.Thr1395del) c.4244_4246del (p.Thr1415del) c.3896_3898del (p.Thr1299del) c.3725_3727del (p.Thr1242del) c.3611_3613del (p.Thr1204del) c.3173_3175del (p.Thr1058del) n.4441_4443del | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000362C>A | CA433598429 | NBEAL2 | c.4263C>A (p.Pro1421=) c.4161C>A (p.Pro1387=) c.2126C>A c.735C>A (p.Pro245=) c.4182C>A (p.Pro1394=) c.4242C>A (p.Pro1414=) c.3894C>A (p.Pro1298=) c.3723C>A (p.Pro1241=) c.3609C>A (p.Pro1203=) c.3171C>A (p.Pro1057=) n.4439C>A | |
3 | g.47000362C>G | CA433598430 | NBEAL2 | c.4263C>G (p.Pro1421=) c.4161C>G (p.Pro1387=) c.2126C>G c.735C>G (p.Pro245=) c.4182C>G (p.Pro1394=) c.4242C>G (p.Pro1414=) c.3894C>G (p.Pro1298=) c.3723C>G (p.Pro1241=) c.3609C>G (p.Pro1203=) c.3171C>G (p.Pro1057=) n.4439C>G | |
3 | g.47000362C>T | CA433598433 | NBEAL2 | c.4263C>T (p.Pro1421=) c.4161C>T (p.Pro1387=) c.2126C>T c.735C>T (p.Pro245=) c.4182C>T (p.Pro1394=) c.4242C>T (p.Pro1414=) c.3894C>T (p.Pro1298=) c.3723C>T (p.Pro1241=) c.3609C>T (p.Pro1203=) c.3171C>T (p.Pro1057=) n.4439C>T | gnomAD v4 |
3 | g.47000363A= | CA1362363152 | NBEAL2 | c.4264A= (p.Thr1422=) c.4162A= (p.Thr1388=) c.2127A= c.736A= (p.Thr246=) c.4183A= (p.Thr1395=) c.4243A= (p.Thr1415=) c.3895A= (p.Thr1299=) c.3724A= (p.Thr1242=) c.3610A= (p.Thr1204=) c.3172A= (p.Thr1058=) n.4440A= | |
3 | g.47000363A>C | CA352517233 | NBEAL2 | c.4264A>C (p.Thr1422Pro) c.4162A>C (p.Thr1388Pro) c.2127A>C c.736A>C (p.Thr246Pro) c.4183A>C (p.Thr1395Pro) c.4243A>C (p.Thr1415Pro) c.3895A>C (p.Thr1299Pro) c.3724A>C (p.Thr1242Pro) c.3610A>C (p.Thr1204Pro) c.3172A>C (p.Thr1058Pro) n.4440A>C | |
3 | g.47000363A>G | CA73818016 | NBEAL2 | c.4264A>G (p.Thr1422Ala) c.4162A>G (p.Thr1388Ala) c.2127A>G c.736A>G (p.Thr246Ala) c.4183A>G (p.Thr1395Ala) c.4243A>G (p.Thr1415Ala) c.3895A>G (p.Thr1299Ala) c.3724A>G (p.Thr1242Ala) c.3610A>G (p.Thr1204Ala) c.3172A>G (p.Thr1058Ala) n.4440A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000363A>T | CA352517234 | NBEAL2 | c.4264A>T (p.Thr1422Ser) c.4162A>T (p.Thr1388Ser) c.2127A>T c.736A>T (p.Thr246Ser) c.4183A>T (p.Thr1395Ser) c.4243A>T (p.Thr1415Ser) c.3895A>T (p.Thr1299Ser) c.3724A>T (p.Thr1242Ser) c.3610A>T (p.Thr1204Ser) c.3172A>T (p.Thr1058Ser) n.4440A>T | |
3 | g.47000364C>A | CA352517235 | NBEAL2 | c.4265C>A (p.Thr1422Asn) c.4163C>A (p.Thr1388Asn) c.2128C>A c.737C>A (p.Thr246Asn) c.4184C>A (p.Thr1395Asn) c.4244C>A (p.Thr1415Asn) c.3896C>A (p.Thr1299Asn) c.3725C>A (p.Thr1242Asn) c.3611C>A (p.Thr1204Asn) c.3173C>A (p.Thr1058Asn) n.4441C>A | gnomAD v4 |
3 | g.47000364C>G | CA352517236 | NBEAL2 | c.4265C>G (p.Thr1422Ser) c.4163C>G (p.Thr1388Ser) c.2128C>G c.737C>G (p.Thr246Ser) c.4184C>G (p.Thr1395Ser) c.4244C>G (p.Thr1415Ser) c.3896C>G (p.Thr1299Ser) c.3725C>G (p.Thr1242Ser) c.3611C>G (p.Thr1204Ser) c.3173C>G (p.Thr1058Ser) n.4441C>G | |
3 | g.47000364C>T | CA352517237 | NBEAL2 | c.4265C>T (p.Thr1422Ile) c.4163C>T (p.Thr1388Ile) c.2128C>T c.737C>T (p.Thr246Ile) c.4184C>T (p.Thr1395Ile) c.4244C>T (p.Thr1415Ile) c.3896C>T (p.Thr1299Ile) c.3725C>T (p.Thr1242Ile) c.3611C>T (p.Thr1204Ile) c.3173C>T (p.Thr1058Ile) n.4441C>T | |
3 | g.47000365C>A | CA433598437 | NBEAL2 | c.4266C>A (p.Thr1422=) c.4164C>A (p.Thr1388=) c.2129C>A c.738C>A (p.Thr246=) c.4185C>A (p.Thr1395=) c.4245C>A (p.Thr1415=) c.3897C>A (p.Thr1299=) c.3726C>A (p.Thr1242=) c.3612C>A (p.Thr1204=) c.3174C>A (p.Thr1058=) n.4442C>A | |
3 | g.47000365C>G | CA433598435 | NBEAL2 | c.4266C>G (p.Thr1422=) c.4164C>G (p.Thr1388=) c.2129C>G c.738C>G (p.Thr246=) c.4185C>G (p.Thr1395=) c.4245C>G (p.Thr1415=) c.3897C>G (p.Thr1299=) c.3726C>G (p.Thr1242=) c.3612C>G (p.Thr1204=) c.3174C>G (p.Thr1058=) n.4442C>G | |
3 | g.47000365C>T | CA433598438 | NBEAL2 | c.4266C>T (p.Thr1422=) c.4164C>T (p.Thr1388=) c.2129C>T c.738C>T (p.Thr246=) c.4185C>T (p.Thr1395=) c.4245C>T (p.Thr1415=) c.3897C>T (p.Thr1299=) c.3726C>T (p.Thr1242=) c.3612C>T (p.Thr1204=) c.3174C>T (p.Thr1058=) n.4442C>T | |
3 | g.47000366A= | CA1362363153 | NBEAL2 | c.4267A= (p.Ile1423=) c.4165A= (p.Ile1389=) c.2130A= c.739A= (p.Ile247=) c.4186A= (p.Ile1396=) c.4246A= (p.Ile1416=) c.3898A= (p.Ile1300=) c.3727A= (p.Ile1243=) c.3613A= (p.Ile1205=) c.3175A= (p.Ile1059=) n.4443A= | |
3 | g.47000366A>C | CA352517238 | NBEAL2 | c.4267A>C (p.Ile1423Leu) c.4165A>C (p.Ile1389Leu) c.2130A>C c.739A>C (p.Ile247Leu) c.4186A>C (p.Ile1396Leu) c.4246A>C (p.Ile1416Leu) c.3898A>C (p.Ile1300Leu) c.3727A>C (p.Ile1243Leu) c.3613A>C (p.Ile1205Leu) c.3175A>C (p.Ile1059Leu) n.4443A>C | |
3 | g.47000366A>G | CA2361190 | NBEAL2 | c.4267A>G (p.Ile1423Val) c.4165A>G (p.Ile1389Val) c.2130A>G c.739A>G (p.Ile247Val) c.4186A>G (p.Ile1396Val) c.4246A>G (p.Ile1416Val) c.3898A>G (p.Ile1300Val) c.3727A>G (p.Ile1243Val) c.3613A>G (p.Ile1205Val) c.3175A>G (p.Ile1059Val) n.4443A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000366A>T | CA352517239 | NBEAL2 | c.4267A>T (p.Ile1423Phe) c.4165A>T (p.Ile1389Phe) c.2130A>T c.739A>T (p.Ile247Phe) c.4186A>T (p.Ile1396Phe) c.4246A>T (p.Ile1416Phe) c.3898A>T (p.Ile1300Phe) c.3727A>T (p.Ile1243Phe) c.3613A>T (p.Ile1205Phe) c.3175A>T (p.Ile1059Phe) n.4443A>T | |
3 | g.47000367T>A | CA352517240 | NBEAL2 | c.4268T>A (p.Ile1423Asn) c.4166T>A (p.Ile1389Asn) c.2131T>A c.740T>A (p.Ile247Asn) c.4187T>A (p.Ile1396Asn) c.4247T>A (p.Ile1416Asn) c.3899T>A (p.Ile1300Asn) c.3728T>A (p.Ile1243Asn) c.3614T>A (p.Ile1205Asn) c.3176T>A (p.Ile1059Asn) n.4444T>A | |
3 | g.47000367T>C | CA352517241 | NBEAL2 | c.4268T>C (p.Ile1423Thr) c.4166T>C (p.Ile1389Thr) c.2131T>C c.740T>C (p.Ile247Thr) c.4187T>C (p.Ile1396Thr) c.4247T>C (p.Ile1416Thr) c.3899T>C (p.Ile1300Thr) c.3728T>C (p.Ile1243Thr) c.3614T>C (p.Ile1205Thr) c.3176T>C (p.Ile1059Thr) n.4444T>C | |
3 | g.47000367T>G | CA352517243 | NBEAL2 | c.4268T>G (p.Ile1423Ser) c.4166T>G (p.Ile1389Ser) c.2131T>G c.740T>G (p.Ile247Ser) c.4187T>G (p.Ile1396Ser) c.4247T>G (p.Ile1416Ser) c.3899T>G (p.Ile1300Ser) c.3728T>G (p.Ile1243Ser) c.3614T>G (p.Ile1205Ser) c.3176T>G (p.Ile1059Ser) n.4444T>G | |
3 | g.47000368T>A | CA433598439 | NBEAL2 | c.4269T>A (p.Ile1423=) c.4167T>A (p.Ile1389=) c.2132T>A c.741T>A (p.Ile247=) c.4188T>A (p.Ile1396=) c.4248T>A (p.Ile1416=) c.3900T>A (p.Ile1300=) c.3729T>A (p.Ile1243=) c.3615T>A (p.Ile1205=) c.3177T>A (p.Ile1059=) n.4445T>A | |
3 | g.47000368T>C | CA2361191 | NBEAL2 | c.4269T>C (p.Ile1423=) c.4167T>C (p.Ile1389=) c.2132T>C c.741T>C (p.Ile247=) c.4188T>C (p.Ile1396=) c.4248T>C (p.Ile1416=) c.3900T>C (p.Ile1300=) c.3729T>C (p.Ile1243=) c.3615T>C (p.Ile1205=) c.3177T>C (p.Ile1059=) n.4445T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000368T>G | CA352517246 | NBEAL2 | c.4269T>G (p.Ile1423Met) c.4167T>G (p.Ile1389Met) c.2132T>G c.741T>G (p.Ile247Met) c.4188T>G (p.Ile1396Met) c.4248T>G (p.Ile1416Met) c.3900T>G (p.Ile1300Met) c.3729T>G (p.Ile1243Met) c.3615T>G (p.Ile1205Met) c.3177T>G (p.Ile1059Met) n.4445T>G | gnomAD v4 |
3 | g.47000368T= | CA1362363154 | NBEAL2 | c.4269T= (p.Ile1423=) c.4167T= (p.Ile1389=) c.2132T= c.741T= (p.Ile247=) c.4188T= (p.Ile1396=) c.4248T= (p.Ile1416=) c.3900T= (p.Ile1300=) c.3729T= (p.Ile1243=) c.3615T= (p.Ile1205=) c.3177T= (p.Ile1059=) n.4445T= | |
3 | g.47000369A>C | CA352517249 | NBEAL2 | c.4270A>C (p.Ser1424Arg) c.4168A>C (p.Ser1390Arg) c.2133A>C c.742A>C (p.Ser248Arg) c.4189A>C (p.Ser1397Arg) c.4249A>C (p.Ser1417Arg) c.3901A>C (p.Ser1301Arg) c.3730A>C (p.Ser1244Arg) c.3616A>C (p.Ser1206Arg) c.3178A>C (p.Ser1060Arg) n.4446A>C | |
3 | g.47000369A>G | CA352517251 | NBEAL2 | c.4270A>G (p.Ser1424Gly) c.4168A>G (p.Ser1390Gly) c.2133A>G c.742A>G (p.Ser248Gly) c.4189A>G (p.Ser1397Gly) c.4249A>G (p.Ser1417Gly) c.3901A>G (p.Ser1301Gly) c.3730A>G (p.Ser1244Gly) c.3616A>G (p.Ser1206Gly) c.3178A>G (p.Ser1060Gly) n.4446A>G | |
3 | g.47000369A>T | CA352517253 | NBEAL2 | c.4270A>T (p.Ser1424Cys) c.4168A>T (p.Ser1390Cys) c.2133A>T c.742A>T (p.Ser248Cys) c.4189A>T (p.Ser1397Cys) c.4249A>T (p.Ser1417Cys) c.3901A>T (p.Ser1301Cys) c.3730A>T (p.Ser1244Cys) c.3616A>T (p.Ser1206Cys) c.3178A>T (p.Ser1060Cys) n.4446A>T | |
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 |