Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.47000333G>ACA352517175NBEAL2c.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
3g.47000333G>CCA352517174NBEAL2c.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
3g.47000333G>TCA352517176NBEAL2c.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
3g.47000334T>ACA352517177NBEAL2c.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
3g.47000334T>CCA352517178NBEAL2c.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
3g.47000334T>GCA352517179NBEAL2c.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
3g.47000335G>ACA433598391NBEAL2c.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
3g.47000335G>CCA433598392NBEAL2c.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
3g.47000335G=CA1362363138NBEAL2c.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=
3g.47000335G>TCA433598393NBEAL2c.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
3g.47000336C>ACA352517180NBEAL2c.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
3g.47000336C>GCA352517181NBEAL2c.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
3g.47000336C>TCA433598395NBEAL2c.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
3g.47000337T>ACA352517182NBEAL2c.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
3g.47000337T>CCA2361179NBEAL2c.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
3g.47000337T>GCA352517183NBEAL2c.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
3g.47000337T=CA1362363139NBEAL2c.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=
3g.47000338G>ACA433598396NBEAL2c.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
3g.47000338G>CCA433598397NBEAL2c.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
3g.47000338G>TCA433598398NBEAL2c.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
3g.47000339G>ACA352517184NBEAL2c.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
3g.47000339G>CCA352517185NBEAL2c.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
3g.47000339G>TCA352517186NBEAL2c.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
3g.47000340A>CCA352517189NBEAL2c.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
3g.47000340A>GCA352517187NBEAL2c.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
3g.47000340A>TCA352517188NBEAL2c.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
3g.47000341G>ACA433598402NBEAL2c.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
3g.47000341G>CCA352517190NBEAL2c.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
3g.47000341G>TCA352517191NBEAL2c.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
3g.47000342G>ACA352517192NBEAL2c.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
3g.47000342G>CCA352517193NBEAL2c.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
3g.47000342G=CA1362363140NBEAL2c.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=
3g.47000342G>TCA352517194NBEAL2c.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
3g.47000343A=CA1362363141NBEAL2c.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=
3g.47000343A>CCA352517195NBEAL2c.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
3g.47000343A>GCA352517196NBEAL2c.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
3g.47000343A>TCA352517197NBEAL2c.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
3g.47000344C>ACA352517198NBEAL2c.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
3g.47000344C=CA1362363142NBEAL2c.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=
3g.47000344C>GCA352517199NBEAL2c.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
3g.47000344C>TCA2361180NBEAL2c.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
3g.47000345G>ACA2361181NBEAL2c.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
3g.47000345G>CCA352517201NBEAL2c.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
3g.47000345G=CA1362363143NBEAL2c.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=
3g.47000345G>TCA352517200NBEAL2c.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
3g.47000346G>ACA352517202NBEAL2c.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
3g.47000346G>CCA352517203NBEAL2c.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
3g.47000346G>TCA352517204NBEAL2c.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
3g.47000347C>ACA433598406NBEAL2c.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
3g.47000347C=CA1362363144NBEAL2c.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=
3g.47000347C>GCA433598408NBEAL2c.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
3g.47000347C>TCA2361182NBEAL2c.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
3g.47000348A>CCA352517205NBEAL2c.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
3g.47000348A>GCA352517206NBEAL2c.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
3g.47000348A>TCA352517207NBEAL2c.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
3g.47000349G>ACA352517208NBEAL2c.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
3g.47000349G>CCA352517209NBEAL2c.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
3g.47000349G>TCA352517210NBEAL2c.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
3g.47000350C>ACA352517211NBEAL2c.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
3g.47000350C=CA1362363145NBEAL2c.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=
3g.47000350C>GCA352517212NBEAL2c.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
3g.47000350C>TCA433598411NBEAL2c.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
3g.47000351C>ACA352517215NBEAL2c.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
3g.47000351C>GCA352517213NBEAL2c.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
3g.47000351C>TCA352517214NBEAL2c.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
3g.47000352T>ACA352517216NBEAL2c.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
3g.47000352T>CCA352517217NBEAL2c.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
3g.47000352T>GCA352517218NBEAL2c.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
3g.47000353C>ACA433598416NBEAL2c.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
3g.47000353C>GCA433598417NBEAL2c.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
3g.47000353C>TCA433598419NBEAL2c.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
3g.47000354C>ACA352517219NBEAL2c.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
3g.47000354C>GCA352517220NBEAL2c.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
3g.47000354C>TCA352517221NBEAL2c.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
3g.47000355C>ACA352517222NBEAL2c.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
3g.47000355C=CA1362363146NBEAL2c.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=
3g.47000355C>GCA2361183NBEAL2c.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
3g.47000355C>TCA2361184NBEAL2c.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
3g.47000356G>ACA2361185NBEAL2c.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
3g.47000356G>CCA433598423NBEAL2c.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
3g.47000356G=CA1362363147NBEAL2c.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=
3g.47000356G>TCA433598424NBEAL2c.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
3g.47000357G>ACA352517223NBEAL2c.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
3g.47000357G>CCA352517224NBEAL2c.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
3g.47000357G>TCA352517225NBEAL2c.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
3g.47000358A>CCA352517227NBEAL2c.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
3g.47000358A>GCA352517228NBEAL2c.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
3g.47000358A>TCA352517226NBEAL2c.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
3g.47000359G>ACA433598426NBEAL2c.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
3g.47000359G>CCA2361186NBEAL2c.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
3g.47000359G=CA1362363148NBEAL2c.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=
3g.47000359G>TCA352517229NBEAL2c.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
3g.47000359dupCA2665493271NBEAL2c.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
3g.47000360C>ACA352517230NBEAL2c.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
3g.47000360C=CA1362363149NBEAL2c.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=
3g.47000360C>GCA352517231NBEAL2c.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
3g.47000360C>TCA2361187NBEAL2c.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
3g.47000360_47000363delinsCCCACA1362363150NBEAL2c.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
3g.47000361C>ACA2361189NBEAL2c.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
3g.47000361C=CA1362363151NBEAL2c.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=
3g.47000361C>GCA2361188NBEAL2c.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
3g.47000361C>TCA352517232NBEAL2c.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
3g.47000364_47000366delCA543042236NBEAL2c.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
3g.47000362C>ACA433598429NBEAL2c.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
3g.47000362C>GCA433598430NBEAL2c.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
3g.47000362C>TCA433598433NBEAL2c.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
3g.47000363A=CA1362363152NBEAL2c.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=
3g.47000363A>CCA352517233NBEAL2c.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
3g.47000363A>GCA73818016NBEAL2c.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
3g.47000363A>TCA352517234NBEAL2c.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
3g.47000364C>ACA352517235NBEAL2c.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
3g.47000364C>GCA352517236NBEAL2c.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
3g.47000364C>TCA352517237NBEAL2c.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
3g.47000365C>ACA433598437NBEAL2c.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
3g.47000365C>GCA433598435NBEAL2c.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
3g.47000365C>TCA433598438NBEAL2c.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
3g.47000366A=CA1362363153NBEAL2c.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=
3g.47000366A>CCA352517238NBEAL2c.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
3g.47000366A>GCA2361190NBEAL2c.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
3g.47000366A>TCA352517239NBEAL2c.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
3g.47000367T>ACA352517240NBEAL2c.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
3g.47000367T>CCA352517241NBEAL2c.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
3g.47000367T>GCA352517243NBEAL2c.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
3g.47000368T>ACA433598439NBEAL2c.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
3g.47000368T>CCA2361191NBEAL2c.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
3g.47000368T>GCA352517246NBEAL2c.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
3g.47000368T=CA1362363154NBEAL2c.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=
3g.47000369A>CCA352517249NBEAL2c.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
3g.47000369A>GCA352517251NBEAL2c.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
3g.47000369A>TCA352517253NBEAL2c.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
3g.47000370G>ACA352517256NBEAL2c.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
3g.47000370G>CCA352517258NBEAL2c.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
3g.47000370G>TCA352517260NBEAL2c.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
3g.47000371C>ACA352517263NBEAL2c.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
3g.47000371C=CA1362363155NBEAL2c.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=
3g.47000371C>GCA352517265NBEAL2c.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
3g.47000371C>TCA2361192NBEAL2c.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
3g.47000372G>ACA352517267NBEAL2c.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
3g.47000372G>CCA352517270NBEAL2c.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
3g.47000372G=CA1362363156NBEAL2c.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=
3g.47000372G>TCA352517272NBEAL2c.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
3g.47000373G>ACA352517275NBEAL2c.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
3g.47000373G>CCA352517277NBEAL2c.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
3g.47000373G=CA1362363157NBEAL2c.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=
3g.47000373G>TCA352517278NBEAL2c.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
3g.47000374G>ACA73818044NBEAL2c.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
3g.47000374G>CCA433598443NBEAL2c.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
3g.47000374G=CA1362363158NBEAL2c.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=
3g.47000374G>TCA433598444NBEAL2c.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
3g.47000374_47000377delinsGGATCA1362363159NBEAL2c.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
3g.47000375G>ACA352517280NBEAL2c.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
3g.47000375G>CCA352517282NBEAL2c.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
3g.47000375G>TCA352517284NBEAL2c.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
3g.47000375_47000376delinsGACA1362363160NBEAL2c.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
3g.47000378_47000380delCA543042237NBEAL2c.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
3g.47000376delCA2361193NBEAL2c.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
3g.47000376A=CA1362363161NBEAL2c.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=
3g.47000376A>CCA352517287NBEAL2c.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
3g.47000376A>GCA352517289NBEAL2c.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
3g.47000376A>TCA352517291NBEAL2c.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
3g.47000377T>ACA352517297NBEAL2c.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
3g.47000377T>CCA433598445NBEAL2c.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
3g.47000377T>GCA352517295NBEAL2c.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
3g.47000378G>ACA2361194NBEAL2c.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
3g.47000378G>CCA352517301NBEAL2c.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
3g.47000378G=CA1362363162NBEAL2c.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=
3g.47000378G>TCA352517303NBEAL2c.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
3g.47000379A=CA1362363163NBEAL2c.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=
3g.47000379A>CCA352517306NBEAL2c.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
3g.47000379A>GCA352517308NBEAL2c.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
3g.47000379A>TCA352517310NBEAL2c.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
3g.47000380T>ACA352517316NBEAL2c.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
3g.47000380T>CCA2361195NBEAL2c.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
3g.47000380T>GCA352517314NBEAL2c.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
3g.47000380T=CA1362363164NBEAL2c.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=
3g.47000381A>CCA352517319NBEAL2c.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
3g.47000381A>GCA352517321NBEAL2c.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
3g.47000381A>TCA352517323NBEAL2c.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
3g.47000382C>ACA352517326NBEAL2c.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
3g.47000382C=CA1362363165NBEAL2c.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=
3g.47000382C>GCA352517328NBEAL2c.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
3g.47000382C>TCA352517331NBEAL2c.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
3g.47000383C>ACA433598446NBEAL2c.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
3g.47000383C=CA1362363166NBEAL2c.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=
3g.47000383C>GCA433598447NBEAL2c.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
3g.47000383C>TCA2361196NBEAL2c.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
3g.47000384T>ACA352517337NBEAL2c.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
3g.47000384T>CCA352517335NBEAL2c.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
3g.47000384T>GCA352517339NBEAL2c.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
3g.47000385C>ACA352517342NBEAL2c.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
3g.47000385C=CA1362363167NBEAL2c.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=
3g.47000385C>GCA2361197NBEAL2c.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
3g.47000385C>TCA2361198NBEAL2c.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
3g.47000386G>ACA2361199NBEAL2c.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
3g.47000386G>CCA433598448NBEAL2c.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
3g.47000386G=CA1362363168NBEAL2c.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=
3g.47000386G>TCA433598449NBEAL2c.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
3g.47000387A=CA1362363169NBEAL2c.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=
3g.47000387A>CCA352517348NBEAL2c.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
3g.47000387A>GCA352517350NBEAL2c.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
3g.47000387A>TCA352517352NBEAL2c.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
3g.47000388A>CCA352517355NBEAL2c.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
3g.47000388A>GCA352517357NBEAL2c.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
3g.47000388A>TCA352517359NBEAL2c.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
3g.47000389C>ACA352517362NBEAL2c.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
3g.47000389C>GCA352517364NBEAL2c.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
3g.47000389C>TCA433598450NBEAL2c.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
3g.47000390A>CCA352517367NBEAL2c.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
3g.47000390A>GCA352517369NBEAL2c.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
3g.47000390A>TCA352517371NBEAL2c.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
3g.47000391C>ACA352517377NBEAL2c.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
3g.47000391C>GCA352517373NBEAL2c.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
3g.47000391C>TCA352517375NBEAL2c.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
3g.47000391_47000400dupCA2665493334NBEAL2c.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
3g.47000392C>ACA433598451NBEAL2c.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
3g.47000392C=CA1362363170NBEAL2c.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=
3g.47000392C>GCA433598452NBEAL2c.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
3g.47000392C>TCA433598453NBEAL2c.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
3g.47000393A=CA1362363171NBEAL2c.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=
3g.47000393A>CCA352517379NBEAL2c.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
3g.47000393A>GCA352517381NBEAL2c.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
3g.47000393A>TCA2361200NBEAL2c.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
3g.47000394G>ACA352517385NBEAL2c.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
3g.47000394G>CCA352517387NBEAL2c.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
3g.47000394G>TCA352517389NBEAL2c.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
3g.47000395C>ACA352517392NBEAL2c.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
3g.47000395C>GCA352517394NBEAL2c.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
3g.47000395C>TCA433598454NBEAL2c.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
3g.47000396A>CCA352517397NBEAL2c.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
3g.47000396A>GCA352517399NBEAL2c.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
3g.47000396A>TCA352517401NBEAL2c.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
3g.47000397A>CCA352517408NBEAL2c.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
3g.47000397A>GCA352517406NBEAL2c.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
3g.47000397A>TCA352517404NBEAL2c.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
3g.47000398C>ACA352517410NBEAL2c.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
3g.47000398C>GCA352517412NBEAL2c.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
3g.47000398C>TCA433598455NBEAL2c.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
3g.47000399C>ACA2361201NBEAL2c.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
3g.47000399C=CA1362363172NBEAL2c.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=
3g.47000399C>GCA352517416NBEAL2c.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
3g.47000399C>TCA352517419NBEAL2c.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
3g.47000400C>ACA352517422NBEAL2c.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
3g.47000400C>GCA352517423NBEAL2c.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
3g.47000400C>TCA352517425NBEAL2c.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
3g.47000401A=CA1362363173NBEAL2c.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=
3g.47000401A>CCA433598457NBEAL2c.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
3g.47000401A>GCA2361202NBEAL2c.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
3g.47000401A>TCA433598456NBEAL2c.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
3g.47000402C>ACA352517427NBEAL2c.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
3g.47000402C>GCA352517429NBEAL2c.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
3g.47000402C>TCA352517431NBEAL2c.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
3g.47000403A>CCA352517438NBEAL2c.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
3g.47000403A>GCA352517436NBEAL2c.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
3g.47000403A>TCA352517434NBEAL2c.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
3g.47000404G>ACA433598458NBEAL2c.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
3g.47000404G>CCA352517441NBEAL2c.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
3g.47000404G>TCA352517443NBEAL2c.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
3g.47000405G>ACA352517446NBEAL2c.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
3g.47000405G>CCA352517448NBEAL2c.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
3g.47000405G>TCA352517449NBEAL2c.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
3g.47000406T>ACA352517452NBEAL2c.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
3g.47000406T>CCA352517454NBEAL2c.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
3g.47000406T>GCA352517456NBEAL2c.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
3g.47000410G>ACA2577577261NBEAL2c.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
3g.47000410G>CCA2361203NBEAL2c.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
3g.47000410G=CA1362363174NBEAL2c.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=
3g.47000411T>GCA1362363176NBEAL2c.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
3g.47000411T=CA1362363175NBEAL2c.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=
3g.47000413G>ACA907615420NBEAL2c.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
3g.47000413G=CA1362363177NBEAL2c.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=
3g.47000414G>ACA2665493373NBEAL2c.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
3g.47000414G>CCA73818092NBEAL2c.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
3g.47000414G=CA1362363178NBEAL2c.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=
3g.47000415C>TCA2665493374NBEAL2c.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
3g.47000416C>ACA2665493376NBEAL2c.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
3g.47000416C=CA1362363179NBEAL2c.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=
3g.47000416C>GCA73818101NBEAL2c.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
3g.47000417C=CA1362363180NBEAL2c.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=
3g.47000417C>TCA2361204NBEAL2c.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
3g.47000419C>TCA2665493378NBEAL2c.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
3g.47000420C>ACA1362363182NBEAL2c.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
3g.47000420C=CA1362363181NBEAL2c.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=
3g.47000421C>ACA2577577262NBEAL2c.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
3g.47000422T>CCA2665493382NBEAL2c.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
3g.47000423C>ACA2665493384NBEAL2c.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
3g.47000425G>ACA2665493388NBEAL2c.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
3g.47000425G>TCA2665493391NBEAL2c.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
3g.47000426C>ACA2665493394NBEAL2c.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
3g.47000427C>GCA2553964315NBEAL2c.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
3g.47000427C>TCA2665493396NBEAL2c.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
3g.47000429C>ACA2665493398NBEAL2c.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
3g.47000431G>ACA2665493399NBEAL2c.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
3g.47000431G>TCA2665493400NBEAL2c.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
3g.47000432C>ACA2665493403NBEAL2c.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
3g.47000432C=CA1362363183NBEAL2c.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=
3g.47000432C>TCA907615425NBEAL2c.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
3g.47000433A=CA1362363184NBEAL2c.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=
3g.47000433A>GCA73818109NBEAL2c.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

Number of alleles fetched