Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46999920_47000275delCA913187439NBEAL2c.3821_4176del (p.Val1274GlyfsTer?)
c.3719_4074del (p.Val1240GlyfsTer?)
c.1960-276_2039del
c.293_648del (p.Val98GlyfsTer?)
c.3740_4095del (p.Val1247GlyfsTer?)
c.3800_4155del (p.Val1267GlyfsTer?)
c.3452_3807del (p.Val1151GlyfsTer?)
c.3281_3636del (p.Val1094GlyfsTer?)
c.3167_3522del (p.Val1056GlyfsTer?)
c.2729_3084del (p.Val910GlyfsTer?)
n.3997_4352del
3g.46999959T>ACA352516244NBEAL2c.3860T>A (p.Val1287Glu)
c.3758T>A (p.Val1253Glu)
n.197T>A
c.1960-237T>A
c.332T>A (p.Val111Glu)
c.3779T>A (p.Val1260Glu)
c.3839T>A (p.Val1280Glu)
c.3491T>A (p.Val1164Glu)
c.3320T>A (p.Val1107Glu)
c.3206T>A (p.Val1069Glu)
c.2768T>A (p.Val923Glu)
n.4036T>A
 gnomAD v4
3g.46999959T>CCA352516245NBEAL2c.3860T>C (p.Val1287Ala)
c.3758T>C (p.Val1253Ala)
n.197T>C
c.1960-237T>C
c.332T>C (p.Val111Ala)
c.3779T>C (p.Val1260Ala)
c.3839T>C (p.Val1280Ala)
c.3491T>C (p.Val1164Ala)
c.3320T>C (p.Val1107Ala)
c.3206T>C (p.Val1069Ala)
c.2768T>C (p.Val923Ala)
n.4036T>C
3g.46999959T>GCA352516246NBEAL2c.3860T>G (p.Val1287Gly)
c.3758T>G (p.Val1253Gly)
n.197T>G
c.1960-237T>G
c.332T>G (p.Val111Gly)
c.3779T>G (p.Val1260Gly)
c.3839T>G (p.Val1280Gly)
c.3491T>G (p.Val1164Gly)
c.3320T>G (p.Val1107Gly)
c.3206T>G (p.Val1069Gly)
c.2768T>G (p.Val923Gly)
n.4036T>G
3g.46999960G>ACA433598109NBEAL2c.3861G>A (p.Val1287=)
c.3759G>A (p.Val1253=)
n.198G>A
c.1960-236G>A
c.333G>A (p.Val111=)
c.3780G>A (p.Val1260=)
c.3840G>A (p.Val1280=)
c.3492G>A (p.Val1164=)
c.3321G>A (p.Val1107=)
c.3207G>A (p.Val1069=)
c.2769G>A (p.Val923=)
n.4037G>A
3g.46999960G>CCA433598113NBEAL2c.3861G>C (p.Val1287=)
c.3759G>C (p.Val1253=)
n.198G>C
c.1960-236G>C
c.333G>C (p.Val111=)
c.3780G>C (p.Val1260=)
c.3840G>C (p.Val1280=)
c.3492G>C (p.Val1164=)
c.3321G>C (p.Val1107=)
c.3207G>C (p.Val1069=)
c.2769G>C (p.Val923=)
n.4037G>C
3g.46999960G>TCA433598110NBEAL2c.3861G>T (p.Val1287=)
c.3759G>T (p.Val1253=)
n.198G>T
c.1960-236G>T
c.333G>T (p.Val111=)
c.3780G>T (p.Val1260=)
c.3840G>T (p.Val1280=)
c.3492G>T (p.Val1164=)
c.3321G>T (p.Val1107=)
c.3207G>T (p.Val1069=)
c.2769G>T (p.Val923=)
n.4037G>T
3g.46999961C>ACA352516247NBEAL2c.3862C>A (p.Leu1288Met)
c.3760C>A (p.Leu1254Met)
n.199C>A
c.1960-235C>A
c.334C>A (p.Leu112Met)
c.3781C>A (p.Leu1261Met)
c.3841C>A (p.Leu1281Met)
c.3493C>A (p.Leu1165Met)
c.3322C>A (p.Leu1108Met)
c.3208C>A (p.Leu1070Met)
c.2770C>A (p.Leu924Met)
n.4038C>A
3g.46999961C=CA1362362943NBEAL2c.3862C= (p.Leu1288=)
c.3760C= (p.Leu1254=)
n.199C=
c.1960-235C=
c.334C= (p.Leu112=)
c.3781C= (p.Leu1261=)
c.3841C= (p.Leu1281=)
c.3493C= (p.Leu1165=)
c.3322C= (p.Leu1108=)
c.3208C= (p.Leu1070=)
c.2770C= (p.Leu924=)
n.4038C=
3g.46999961C>GCA73817520NBEAL2c.3862C>G (p.Leu1288Val)
c.3760C>G (p.Leu1254Val)
n.199C>G
c.1960-235C>G
c.334C>G (p.Leu112Val)
c.3781C>G (p.Leu1261Val)
c.3841C>G (p.Leu1281Val)
c.3493C>G (p.Leu1165Val)
c.3322C>G (p.Leu1108Val)
c.3208C>G (p.Leu1070Val)
c.2770C>G (p.Leu924Val)
n.4038C>G
 dbSNP
3g.46999961C>TCA433598117NBEAL2c.3862C>T (p.Leu1288=)
c.3760C>T (p.Leu1254=)
n.199C>T
c.1960-235C>T
c.334C>T (p.Leu112=)
c.3781C>T (p.Leu1261=)
c.3841C>T (p.Leu1281=)
c.3493C>T (p.Leu1165=)
c.3322C>T (p.Leu1108=)
c.3208C>T (p.Leu1070=)
c.2770C>T (p.Leu924=)
n.4038C>T
 gnomAD v4
3g.46999962T>ACA352516248NBEAL2c.3863T>A (p.Leu1288Gln)
c.3761T>A (p.Leu1254Gln)
n.200T>A
c.1960-234T>A
c.335T>A (p.Leu112Gln)
c.3782T>A (p.Leu1261Gln)
c.3842T>A (p.Leu1281Gln)
c.3494T>A (p.Leu1165Gln)
c.3323T>A (p.Leu1108Gln)
c.3209T>A (p.Leu1070Gln)
c.2771T>A (p.Leu924Gln)
n.4039T>A
3g.46999962T>CCA352516249NBEAL2c.3863T>C (p.Leu1288Pro)
c.3761T>C (p.Leu1254Pro)
n.200T>C
c.1960-234T>C
c.335T>C (p.Leu112Pro)
c.3782T>C (p.Leu1261Pro)
c.3842T>C (p.Leu1281Pro)
c.3494T>C (p.Leu1165Pro)
c.3323T>C (p.Leu1108Pro)
c.3209T>C (p.Leu1070Pro)
c.2771T>C (p.Leu924Pro)
n.4039T>C
 dbSNP
3g.46999962T>GCA352516250NBEAL2c.3863T>G (p.Leu1288Arg)
c.3761T>G (p.Leu1254Arg)
n.200T>G
c.1960-234T>G
c.335T>G (p.Leu112Arg)
c.3782T>G (p.Leu1261Arg)
c.3842T>G (p.Leu1281Arg)
c.3494T>G (p.Leu1165Arg)
c.3323T>G (p.Leu1108Arg)
c.3209T>G (p.Leu1070Arg)
c.2771T>G (p.Leu924Arg)
n.4039T>G
3g.46999962T=CA1362362944NBEAL2c.3863T= (p.Leu1288=)
c.3761T= (p.Leu1254=)
n.200T=
c.1960-234T=
c.335T= (p.Leu112=)
c.3782T= (p.Leu1261=)
c.3842T= (p.Leu1281=)
c.3494T= (p.Leu1165=)
c.3323T= (p.Leu1108=)
c.3209T= (p.Leu1070=)
c.2771T= (p.Leu924=)
n.4039T=
3g.46999963G>ACA2361092NBEAL2c.3864G>A (p.Leu1288=)
c.3762G>A (p.Leu1254=)
n.201G>A
c.1960-233G>A
c.336G>A (p.Leu112=)
c.3783G>A (p.Leu1261=)
c.3843G>A (p.Leu1281=)
c.3495G>A (p.Leu1165=)
c.3324G>A (p.Leu1108=)
c.3210G>A (p.Leu1070=)
c.2772G>A (p.Leu924=)
n.4040G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999963G>CCA433598122NBEAL2c.3864G>C (p.Leu1288=)
c.3762G>C (p.Leu1254=)
n.201G>C
c.1960-233G>C
c.336G>C (p.Leu112=)
c.3783G>C (p.Leu1261=)
c.3843G>C (p.Leu1281=)
c.3495G>C (p.Leu1165=)
c.3324G>C (p.Leu1108=)
c.3210G>C (p.Leu1070=)
c.2772G>C (p.Leu924=)
n.4040G>C
3g.46999963G=CA1362362945NBEAL2c.3864G= (p.Leu1288=)
c.3762G= (p.Leu1254=)
n.201G=
c.1960-233G=
c.336G= (p.Leu112=)
c.3783G= (p.Leu1261=)
c.3843G= (p.Leu1281=)
c.3495G= (p.Leu1165=)
c.3324G= (p.Leu1108=)
c.3210G= (p.Leu1070=)
c.2772G= (p.Leu924=)
n.4040G=
3g.46999963G>TCA433598128NBEAL2c.3864G>T (p.Leu1288=)
c.3762G>T (p.Leu1254=)
n.201G>T
c.1960-233G>T
c.336G>T (p.Leu112=)
c.3783G>T (p.Leu1261=)
c.3843G>T (p.Leu1281=)
c.3495G>T (p.Leu1165=)
c.3324G>T (p.Leu1108=)
c.3210G>T (p.Leu1070=)
c.2772G>T (p.Leu924=)
n.4040G>T
3g.46999964A=CA1362362946NBEAL2c.3865A= (p.Thr1289=)
c.3763A= (p.Thr1255=)
n.202A=
c.1960-232A=
c.337A= (p.Thr113=)
c.3784A= (p.Thr1262=)
c.3844A= (p.Thr1282=)
c.3496A= (p.Thr1166=)
c.3325A= (p.Thr1109=)
c.3211A= (p.Thr1071=)
c.2773A= (p.Thr925=)
n.4041A=
3g.46999964A>CCA352516251NBEAL2c.3865A>C (p.Thr1289Pro)
c.3763A>C (p.Thr1255Pro)
n.202A>C
c.1960-232A>C
c.337A>C (p.Thr113Pro)
c.3784A>C (p.Thr1262Pro)
c.3844A>C (p.Thr1282Pro)
c.3496A>C (p.Thr1166Pro)
c.3325A>C (p.Thr1109Pro)
c.3211A>C (p.Thr1071Pro)
c.2773A>C (p.Thr925Pro)
n.4041A>C
 dbSNP
3g.46999964A>GCA352516253NBEAL2c.3865A>G (p.Thr1289Ala)
c.3763A>G (p.Thr1255Ala)
n.202A>G
c.1960-232A>G
c.337A>G (p.Thr113Ala)
c.3784A>G (p.Thr1262Ala)
c.3844A>G (p.Thr1282Ala)
c.3496A>G (p.Thr1166Ala)
c.3325A>G (p.Thr1109Ala)
c.3211A>G (p.Thr1071Ala)
c.2773A>G (p.Thr925Ala)
n.4041A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46999964A>TCA352516252NBEAL2c.3865A>T (p.Thr1289Ser)
c.3763A>T (p.Thr1255Ser)
n.202A>T
c.1960-232A>T
c.337A>T (p.Thr113Ser)
c.3784A>T (p.Thr1262Ser)
c.3844A>T (p.Thr1282Ser)
c.3496A>T (p.Thr1166Ser)
c.3325A>T (p.Thr1109Ser)
c.3211A>T (p.Thr1071Ser)
c.2773A>T (p.Thr925Ser)
n.4041A>T
3g.46999965C>ACA352516254NBEAL2c.3866C>A (p.Thr1289Asn)
c.3764C>A (p.Thr1255Asn)
n.203C>A
c.1960-231C>A
c.338C>A (p.Thr113Asn)
c.3785C>A (p.Thr1262Asn)
c.3845C>A (p.Thr1282Asn)
c.3497C>A (p.Thr1166Asn)
c.3326C>A (p.Thr1109Asn)
c.3212C>A (p.Thr1071Asn)
c.2774C>A (p.Thr925Asn)
n.4042C>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999965C=CA1362362947NBEAL2c.3866C= (p.Thr1289=)
c.3764C= (p.Thr1255=)
n.203C=
c.1960-231C=
c.338C= (p.Thr113=)
c.3785C= (p.Thr1262=)
c.3845C= (p.Thr1282=)
c.3497C= (p.Thr1166=)
c.3326C= (p.Thr1109=)
c.3212C= (p.Thr1071=)
c.2774C= (p.Thr925=)
n.4042C=
3g.46999965C>GCA352516255NBEAL2c.3866C>G (p.Thr1289Ser)
c.3764C>G (p.Thr1255Ser)
n.203C>G
c.1960-231C>G
c.338C>G (p.Thr113Ser)
c.3785C>G (p.Thr1262Ser)
c.3845C>G (p.Thr1282Ser)
c.3497C>G (p.Thr1166Ser)
c.3326C>G (p.Thr1109Ser)
c.3212C>G (p.Thr1071Ser)
c.2774C>G (p.Thr925Ser)
n.4042C>G
 dbSNP
3g.46999965C>TCA2361093NBEAL2c.3866C>T (p.Thr1289Ile)
c.3764C>T (p.Thr1255Ile)
n.203C>T
c.1960-231C>T
c.338C>T (p.Thr113Ile)
c.3785C>T (p.Thr1262Ile)
c.3845C>T (p.Thr1282Ile)
c.3497C>T (p.Thr1166Ile)
c.3326C>T (p.Thr1109Ile)
c.3212C>T (p.Thr1071Ile)
c.2774C>T (p.Thr925Ile)
n.4042C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999966C>ACA433598129NBEAL2c.3867C>A (p.Thr1289=)
c.3765C>A (p.Thr1255=)
n.204C>A
c.1960-230C>A
c.339C>A (p.Thr113=)
c.3786C>A (p.Thr1262=)
c.3846C>A (p.Thr1282=)
c.3498C>A (p.Thr1166=)
c.3327C>A (p.Thr1109=)
c.3213C>A (p.Thr1071=)
c.2775C>A (p.Thr925=)
n.4043C>A
3g.46999966C>GCA433598133NBEAL2c.3867C>G (p.Thr1289=)
c.3765C>G (p.Thr1255=)
n.204C>G
c.1960-230C>G
c.339C>G (p.Thr113=)
c.3786C>G (p.Thr1262=)
c.3846C>G (p.Thr1282=)
c.3498C>G (p.Thr1166=)
c.3327C>G (p.Thr1109=)
c.3213C>G (p.Thr1071=)
c.2775C>G (p.Thr925=)
n.4043C>G
 gnomAD v4
3g.46999966C>TCA433598131NBEAL2c.3867C>T (p.Thr1289=)
c.3765C>T (p.Thr1255=)
n.204C>T
c.1960-230C>T
c.339C>T (p.Thr113=)
c.3786C>T (p.Thr1262=)
c.3846C>T (p.Thr1282=)
c.3498C>T (p.Thr1166=)
c.3327C>T (p.Thr1109=)
c.3213C>T (p.Thr1071=)
c.2775C>T (p.Thr925=)
n.4043C>T
 gnomAD v4
3g.46999967C>ACA433598135NBEAL2c.3868C>A (p.Arg1290=)
c.3766C>A (p.Arg1256=)
n.205C>A
c.1960-229C>A
c.340C>A (p.Arg114=)
c.3787C>A (p.Arg1263=)
c.3847C>A (p.Arg1283=)
c.3499C>A (p.Arg1167=)
c.3328C>A (p.Arg1110=)
c.3214C>A (p.Arg1072=)
c.2776C>A (p.Arg926=)
n.4044C>A
3g.46999967C=CA1362362948NBEAL2c.3868C= (p.Arg1290=)
c.3766C= (p.Arg1256=)
n.205C=
c.1960-229C=
c.340C= (p.Arg114=)
c.3787C= (p.Arg1263=)
c.3847C= (p.Arg1283=)
c.3499C= (p.Arg1167=)
c.3328C= (p.Arg1110=)
c.3214C= (p.Arg1072=)
c.2776C= (p.Arg926=)
n.4044C=
3g.46999967C>GCA352516256NBEAL2c.3868C>G (p.Arg1290Gly)
c.3766C>G (p.Arg1256Gly)
n.205C>G
c.1960-229C>G
c.340C>G (p.Arg114Gly)
c.3787C>G (p.Arg1263Gly)
c.3847C>G (p.Arg1283Gly)
c.3499C>G (p.Arg1167Gly)
c.3328C>G (p.Arg1110Gly)
c.3214C>G (p.Arg1072Gly)
c.2776C>G (p.Arg926Gly)
n.4044C>G
3g.46999967C>TCA352516257NBEAL2c.3868C>T (p.Arg1290Trp)
c.3766C>T (p.Arg1256Trp)
n.205C>T
c.1960-229C>T
c.340C>T (p.Arg114Trp)
c.3787C>T (p.Arg1263Trp)
c.3847C>T (p.Arg1283Trp)
c.3499C>T (p.Arg1167Trp)
c.3328C>T (p.Arg1110Trp)
c.3214C>T (p.Arg1072Trp)
c.2776C>T (p.Arg926Trp)
n.4044C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46999968G>ACA2361094NBEAL2c.3869G>A (p.Arg1290Gln)
c.3767G>A (p.Arg1256Gln)
n.206G>A
c.1960-228G>A
c.341G>A (p.Arg114Gln)
c.3788G>A (p.Arg1263Gln)
c.3848G>A (p.Arg1283Gln)
c.3500G>A (p.Arg1167Gln)
c.3329G>A (p.Arg1110Gln)
c.3215G>A (p.Arg1072Gln)
c.2777G>A (p.Arg926Gln)
n.4045G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999968G>CCA352516258NBEAL2c.3869G>C (p.Arg1290Pro)
c.3767G>C (p.Arg1256Pro)
n.206G>C
c.1960-228G>C
c.341G>C (p.Arg114Pro)
c.3788G>C (p.Arg1263Pro)
c.3848G>C (p.Arg1283Pro)
c.3500G>C (p.Arg1167Pro)
c.3329G>C (p.Arg1110Pro)
c.3215G>C (p.Arg1072Pro)
c.2777G>C (p.Arg926Pro)
n.4045G>C
3g.46999968G=CA1362362949NBEAL2c.3869G= (p.Arg1290=)
c.3767G= (p.Arg1256=)
n.206G=
c.1960-228G=
c.341G= (p.Arg114=)
c.3788G= (p.Arg1263=)
c.3848G= (p.Arg1283=)
c.3500G= (p.Arg1167=)
c.3329G= (p.Arg1110=)
c.3215G= (p.Arg1072=)
c.2777G= (p.Arg926=)
n.4045G=
3g.46999968G>TCA352516259NBEAL2c.3869G>T (p.Arg1290Leu)
c.3767G>T (p.Arg1256Leu)
n.206G>T
c.1960-228G>T
c.341G>T (p.Arg114Leu)
c.3788G>T (p.Arg1263Leu)
c.3848G>T (p.Arg1283Leu)
c.3500G>T (p.Arg1167Leu)
c.3329G>T (p.Arg1110Leu)
c.3215G>T (p.Arg1072Leu)
c.2777G>T (p.Arg926Leu)
n.4045G>T
3g.46999969G>ACA433598136NBEAL2c.3870G>A (p.Arg1290=)
c.3768G>A (p.Arg1256=)
n.207G>A
c.1960-227G>A
c.342G>A (p.Arg114=)
c.3789G>A (p.Arg1263=)
c.3849G>A (p.Arg1283=)
c.3501G>A (p.Arg1167=)
c.3330G>A (p.Arg1110=)
c.3216G>A (p.Arg1072=)
c.2778G>A (p.Arg926=)
n.4046G>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999969G>CCA433598137NBEAL2c.3870G>C (p.Arg1290=)
c.3768G>C (p.Arg1256=)
n.207G>C
c.1960-227G>C
c.342G>C (p.Arg114=)
c.3789G>C (p.Arg1263=)
c.3849G>C (p.Arg1283=)
c.3501G>C (p.Arg1167=)
c.3330G>C (p.Arg1110=)
c.3216G>C (p.Arg1072=)
c.2778G>C (p.Arg926=)
n.4046G>C
3g.46999969G=CA1362362950NBEAL2c.3870G= (p.Arg1290=)
c.3768G= (p.Arg1256=)
n.207G=
c.1960-227G=
c.342G= (p.Arg114=)
c.3789G= (p.Arg1263=)
c.3849G= (p.Arg1283=)
c.3501G= (p.Arg1167=)
c.3330G= (p.Arg1110=)
c.3216G= (p.Arg1072=)
c.2778G= (p.Arg926=)
n.4046G=
3g.46999969G>TCA433598138NBEAL2c.3870G>T (p.Arg1290=)
c.3768G>T (p.Arg1256=)
n.207G>T
c.1960-227G>T
c.342G>T (p.Arg114=)
c.3789G>T (p.Arg1263=)
c.3849G>T (p.Arg1283=)
c.3501G>T (p.Arg1167=)
c.3330G>T (p.Arg1110=)
c.3216G>T (p.Arg1072=)
c.2778G>T (p.Arg926=)
n.4046G>T
3g.46999970C>ACA352516260NBEAL2c.3871C>A (p.Leu1291Ile)
c.3769C>A (p.Leu1257Ile)
n.208C>A
c.1960-226C>A
c.343C>A (p.Leu115Ile)
c.3790C>A (p.Leu1264Ile)
c.3850C>A (p.Leu1284Ile)
c.3502C>A (p.Leu1168Ile)
c.3331C>A (p.Leu1111Ile)
c.3217C>A (p.Leu1073Ile)
c.2779C>A (p.Leu927Ile)
n.4047C>A
3g.46999970C=CA1362362951NBEAL2c.3871C= (p.Leu1291=)
c.3769C= (p.Leu1257=)
n.208C=
c.1960-226C=
c.343C= (p.Leu115=)
c.3790C= (p.Leu1264=)
c.3850C= (p.Leu1284=)
c.3502C= (p.Leu1168=)
c.3331C= (p.Leu1111=)
c.3217C= (p.Leu1073=)
c.2779C= (p.Leu927=)
n.4047C=
3g.46999970C>GCA2361095NBEAL2c.3871C>G (p.Leu1291Val)
c.3769C>G (p.Leu1257Val)
n.208C>G
c.1960-226C>G
c.343C>G (p.Leu115Val)
c.3790C>G (p.Leu1264Val)
c.3850C>G (p.Leu1284Val)
c.3502C>G (p.Leu1168Val)
c.3331C>G (p.Leu1111Val)
c.3217C>G (p.Leu1073Val)
c.2779C>G (p.Leu927Val)
n.4047C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999970C>TCA433598139NBEAL2c.3871C>T (p.Leu1291=)
c.3769C>T (p.Leu1257=)
n.208C>T
c.1960-226C>T
c.343C>T (p.Leu115=)
c.3790C>T (p.Leu1264=)
c.3850C>T (p.Leu1284=)
c.3502C>T (p.Leu1168=)
c.3331C>T (p.Leu1111=)
c.3217C>T (p.Leu1073=)
c.2779C>T (p.Leu927=)
n.4047C>T
3g.46999971T>ACA352516261NBEAL2c.3872T>A (p.Leu1291Gln)
c.3770T>A (p.Leu1257Gln)
n.209T>A
c.1960-225T>A
c.344T>A (p.Leu115Gln)
c.3791T>A (p.Leu1264Gln)
c.3851T>A (p.Leu1284Gln)
c.3503T>A (p.Leu1168Gln)
c.3332T>A (p.Leu1111Gln)
c.3218T>A (p.Leu1073Gln)
c.2780T>A (p.Leu927Gln)
n.4048T>A
3g.46999971T>CCA352516262NBEAL2c.3872T>C (p.Leu1291Pro)
c.3770T>C (p.Leu1257Pro)
n.209T>C
c.1960-225T>C
c.344T>C (p.Leu115Pro)
c.3791T>C (p.Leu1264Pro)
c.3851T>C (p.Leu1284Pro)
c.3503T>C (p.Leu1168Pro)
c.3332T>C (p.Leu1111Pro)
c.3218T>C (p.Leu1073Pro)
c.2780T>C (p.Leu927Pro)
n.4048T>C
 gnomAD v4
3g.46999971T>GCA352516263NBEAL2c.3872T>G (p.Leu1291Arg)
c.3770T>G (p.Leu1257Arg)
n.209T>G
c.1960-225T>G
c.344T>G (p.Leu115Arg)
c.3791T>G (p.Leu1264Arg)
c.3851T>G (p.Leu1284Arg)
c.3503T>G (p.Leu1168Arg)
c.3332T>G (p.Leu1111Arg)
c.3218T>G (p.Leu1073Arg)
c.2780T>G (p.Leu927Arg)
n.4048T>G
3g.46999972A=CA1362362952NBEAL2c.3873A= (p.Leu1291=)
c.3771A= (p.Leu1257=)
n.210A=
c.1960-224A=
c.345A= (p.Leu115=)
c.3792A= (p.Leu1264=)
c.3852A= (p.Leu1284=)
c.3504A= (p.Leu1168=)
c.3333A= (p.Leu1111=)
c.3219A= (p.Leu1073=)
c.2781A= (p.Leu927=)
n.4049A=
3g.46999972A>CCA433598144NBEAL2c.3873A>C (p.Leu1291=)
c.3771A>C (p.Leu1257=)
n.210A>C
c.1960-224A>C
c.345A>C (p.Leu115=)
c.3792A>C (p.Leu1264=)
c.3852A>C (p.Leu1284=)
c.3504A>C (p.Leu1168=)
c.3333A>C (p.Leu1111=)
c.3219A>C (p.Leu1073=)
c.2781A>C (p.Leu927=)
n.4049A>C
3g.46999972A>GCA433598145NBEAL2c.3873A>G (p.Leu1291=)
c.3771A>G (p.Leu1257=)
n.210A>G
c.1960-224A>G
c.345A>G (p.Leu115=)
c.3792A>G (p.Leu1264=)
c.3852A>G (p.Leu1284=)
c.3504A>G (p.Leu1168=)
c.3333A>G (p.Leu1111=)
c.3219A>G (p.Leu1073=)
c.2781A>G (p.Leu927=)
n.4049A>G
 dbSNP gnomAD v2 gnomAD v4
3g.46999972A>TCA433598146NBEAL2c.3873A>T (p.Leu1291=)
c.3771A>T (p.Leu1257=)
n.210A>T
c.1960-224A>T
c.345A>T (p.Leu115=)
c.3792A>T (p.Leu1264=)
c.3852A>T (p.Leu1284=)
c.3504A>T (p.Leu1168=)
c.3333A>T (p.Leu1111=)
c.3219A>T (p.Leu1073=)
c.2781A>T (p.Leu927=)
n.4049A>T
3g.46999973T>ACA352516264NBEAL2c.3874T>A (p.Tyr1292Asn)
c.3772T>A (p.Tyr1258Asn)
n.211T>A
c.1960-223T>A
c.346T>A (p.Tyr116Asn)
c.3793T>A (p.Tyr1265Asn)
c.3853T>A (p.Tyr1285Asn)
c.3505T>A (p.Tyr1169Asn)
c.3334T>A (p.Tyr1112Asn)
c.3220T>A (p.Tyr1074Asn)
c.2782T>A (p.Tyr928Asn)
n.4050T>A
3g.46999973T>CCA352516265NBEAL2c.3874T>C (p.Tyr1292His)
c.3772T>C (p.Tyr1258His)
n.211T>C
c.1960-223T>C
c.346T>C (p.Tyr116His)
c.3793T>C (p.Tyr1265His)
c.3853T>C (p.Tyr1285His)
c.3505T>C (p.Tyr1169His)
c.3334T>C (p.Tyr1112His)
c.3220T>C (p.Tyr1074His)
c.2782T>C (p.Tyr928His)
n.4050T>C
3g.46999973T>GCA352516266NBEAL2c.3874T>G (p.Tyr1292Asp)
c.3772T>G (p.Tyr1258Asp)
n.211T>G
c.1960-223T>G
c.346T>G (p.Tyr116Asp)
c.3793T>G (p.Tyr1265Asp)
c.3853T>G (p.Tyr1285Asp)
c.3505T>G (p.Tyr1169Asp)
c.3334T>G (p.Tyr1112Asp)
c.3220T>G (p.Tyr1074Asp)
c.2782T>G (p.Tyr928Asp)
n.4050T>G
3g.46999974A=CA1362362953NBEAL2c.3875A= (p.Tyr1292=)
c.3773A= (p.Tyr1258=)
n.212A=
c.1960-222A=
c.347A= (p.Tyr116=)
c.3794A= (p.Tyr1265=)
c.3854A= (p.Tyr1285=)
c.3506A= (p.Tyr1169=)
c.3335A= (p.Tyr1112=)
c.3221A= (p.Tyr1074=)
c.2783A= (p.Tyr928=)
n.4051A=
3g.46999974A>CCA352516267NBEAL2c.3875A>C (p.Tyr1292Ser)
c.3773A>C (p.Tyr1258Ser)
n.212A>C
c.1960-222A>C
c.347A>C (p.Tyr116Ser)
c.3794A>C (p.Tyr1265Ser)
c.3854A>C (p.Tyr1285Ser)
c.3506A>C (p.Tyr1169Ser)
c.3335A>C (p.Tyr1112Ser)
c.3221A>C (p.Tyr1074Ser)
c.2783A>C (p.Tyr928Ser)
n.4051A>C
3g.46999974A>GCA73817541NBEAL2c.3875A>G (p.Tyr1292Cys)
c.3773A>G (p.Tyr1258Cys)
n.212A>G
c.1960-222A>G
c.347A>G (p.Tyr116Cys)
c.3794A>G (p.Tyr1265Cys)
c.3854A>G (p.Tyr1285Cys)
c.3506A>G (p.Tyr1169Cys)
c.3335A>G (p.Tyr1112Cys)
c.3221A>G (p.Tyr1074Cys)
c.2783A>G (p.Tyr928Cys)
n.4051A>G
 dbSNP gnomAD v3 gnomAD v4
3g.46999974A>TCA352516268NBEAL2c.3875A>T (p.Tyr1292Phe)
c.3773A>T (p.Tyr1258Phe)
n.212A>T
c.1960-222A>T
c.347A>T (p.Tyr116Phe)
c.3794A>T (p.Tyr1265Phe)
c.3854A>T (p.Tyr1285Phe)
c.3506A>T (p.Tyr1169Phe)
c.3335A>T (p.Tyr1112Phe)
c.3221A>T (p.Tyr1074Phe)
c.2783A>T (p.Tyr928Phe)
n.4051A>T
3g.46999975T>ACA352516269NBEAL2c.3876T>A (p.Tyr1292Ter)
c.3774T>A (p.Tyr1258Ter)
n.213T>A
c.1960-221T>A
c.348T>A (p.Tyr116Ter)
c.3795T>A (p.Tyr1265Ter)
c.3855T>A (p.Tyr1285Ter)
c.3507T>A (p.Tyr1169Ter)
c.3336T>A (p.Tyr1112Ter)
c.3222T>A (p.Tyr1074Ter)
c.2784T>A (p.Tyr928Ter)
n.4052T>A
3g.46999975T>CCA2361096NBEAL2c.3876T>C (p.Tyr1292=)
c.3774T>C (p.Tyr1258=)
n.213T>C
c.1960-221T>C
c.348T>C (p.Tyr116=)
c.3795T>C (p.Tyr1265=)
c.3855T>C (p.Tyr1285=)
c.3507T>C (p.Tyr1169=)
c.3336T>C (p.Tyr1112=)
c.3222T>C (p.Tyr1074=)
c.2784T>C (p.Tyr928=)
n.4052T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999975T>GCA352516270NBEAL2c.3876T>G (p.Tyr1292Ter)
c.3774T>G (p.Tyr1258Ter)
n.213T>G
c.1960-221T>G
c.348T>G (p.Tyr116Ter)
c.3795T>G (p.Tyr1265Ter)
c.3855T>G (p.Tyr1285Ter)
c.3507T>G (p.Tyr1169Ter)
c.3336T>G (p.Tyr1112Ter)
c.3222T>G (p.Tyr1074Ter)
c.2784T>G (p.Tyr928Ter)
n.4052T>G
3g.46999975T=CA1362362954NBEAL2c.3876T= (p.Tyr1292=)
c.3774T= (p.Tyr1258=)
n.213T=
c.1960-221T=
c.348T= (p.Tyr116=)
c.3795T= (p.Tyr1265=)
c.3855T= (p.Tyr1285=)
c.3507T= (p.Tyr1169=)
c.3336T= (p.Tyr1112=)
c.3222T= (p.Tyr1074=)
c.2784T= (p.Tyr928=)
n.4052T=
3g.46999976G>ACA352516271NBEAL2c.3877G>A (p.Val1293Ile)
c.3775G>A (p.Val1259Ile)
n.214G>A
c.1960-220G>A
c.349G>A (p.Val117Ile)
c.3796G>A (p.Val1266Ile)
c.3856G>A (p.Val1286Ile)
c.3508G>A (p.Val1170Ile)
c.3337G>A (p.Val1113Ile)
c.3223G>A (p.Val1075Ile)
c.2785G>A (p.Val929Ile)
n.4053G>A
3g.46999976G>CCA352516272NBEAL2c.3877G>C (p.Val1293Leu)
c.3775G>C (p.Val1259Leu)
n.214G>C
c.1960-220G>C
c.349G>C (p.Val117Leu)
c.3796G>C (p.Val1266Leu)
c.3856G>C (p.Val1286Leu)
c.3508G>C (p.Val1170Leu)
c.3337G>C (p.Val1113Leu)
c.3223G>C (p.Val1075Leu)
c.2785G>C (p.Val929Leu)
n.4053G>C
3g.46999976G>TCA352516273NBEAL2c.3877G>T (p.Val1293Phe)
c.3775G>T (p.Val1259Phe)
n.214G>T
c.1960-220G>T
c.349G>T (p.Val117Phe)
c.3796G>T (p.Val1266Phe)
c.3856G>T (p.Val1286Phe)
c.3508G>T (p.Val1170Phe)
c.3337G>T (p.Val1113Phe)
c.3223G>T (p.Val1075Phe)
c.2785G>T (p.Val929Phe)
n.4053G>T
3g.46999977T>ACA352516274NBEAL2c.3878T>A (p.Val1293Asp)
c.3776T>A (p.Val1259Asp)
n.215T>A
c.1960-219T>A
c.350T>A (p.Val117Asp)
c.3797T>A (p.Val1266Asp)
c.3857T>A (p.Val1286Asp)
c.3509T>A (p.Val1170Asp)
c.3338T>A (p.Val1113Asp)
c.3224T>A (p.Val1075Asp)
c.2786T>A (p.Val929Asp)
n.4054T>A
3g.46999977T>CCA352516275NBEAL2c.3878T>C (p.Val1293Ala)
c.3776T>C (p.Val1259Ala)
n.215T>C
c.1960-219T>C
c.350T>C (p.Val117Ala)
c.3797T>C (p.Val1266Ala)
c.3857T>C (p.Val1286Ala)
c.3509T>C (p.Val1170Ala)
c.3338T>C (p.Val1113Ala)
c.3224T>C (p.Val1075Ala)
c.2786T>C (p.Val929Ala)
n.4054T>C
3g.46999977T>GCA352516276NBEAL2c.3878T>G (p.Val1293Gly)
c.3776T>G (p.Val1259Gly)
n.215T>G
c.1960-219T>G
c.350T>G (p.Val117Gly)
c.3797T>G (p.Val1266Gly)
c.3857T>G (p.Val1286Gly)
c.3509T>G (p.Val1170Gly)
c.3338T>G (p.Val1113Gly)
c.3224T>G (p.Val1075Gly)
c.2786T>G (p.Val929Gly)
n.4054T>G
3g.46999978C>ACA433598153NBEAL2c.3879C>A (p.Val1293=)
c.3777C>A (p.Val1259=)
n.216C>A
c.1960-218C>A
c.351C>A (p.Val117=)
c.3798C>A (p.Val1266=)
c.3858C>A (p.Val1286=)
c.3510C>A (p.Val1170=)
c.3339C>A (p.Val1113=)
c.3225C>A (p.Val1075=)
c.2787C>A (p.Val929=)
n.4055C>A
3g.46999978C=CA1362362955NBEAL2c.3879C= (p.Val1293=)
c.3777C= (p.Val1259=)
n.216C=
c.1960-218C=
c.351C= (p.Val117=)
c.3798C= (p.Val1266=)
c.3858C= (p.Val1286=)
c.3510C= (p.Val1170=)
c.3339C= (p.Val1113=)
c.3225C= (p.Val1075=)
c.2787C= (p.Val929=)
n.4055C=
3g.46999978C>GCA433598154NBEAL2c.3879C>G (p.Val1293=)
c.3777C>G (p.Val1259=)
n.216C>G
c.1960-218C>G
c.351C>G (p.Val117=)
c.3798C>G (p.Val1266=)
c.3858C>G (p.Val1286=)
c.3510C>G (p.Val1170=)
c.3339C>G (p.Val1113=)
c.3225C>G (p.Val1075=)
c.2787C>G (p.Val929=)
n.4055C>G
3g.46999978C>TCA2361097NBEAL2c.3879C>T (p.Val1293=)
c.3777C>T (p.Val1259=)
n.216C>T
c.1960-218C>T
c.351C>T (p.Val117=)
c.3798C>T (p.Val1266=)
c.3858C>T (p.Val1286=)
c.3510C>T (p.Val1170=)
c.3339C>T (p.Val1113=)
c.3225C>T (p.Val1075=)
c.2787C>T (p.Val929=)
n.4055C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999979C>ACA352516278NBEAL2c.3880C>A (p.Leu1294Met)
c.3778C>A (p.Leu1260Met)
n.217C>A
c.1960-217C>A
c.352C>A (p.Leu118Met)
c.3799C>A (p.Leu1267Met)
c.3859C>A (p.Leu1287Met)
c.3511C>A (p.Leu1171Met)
c.3340C>A (p.Leu1114Met)
c.3226C>A (p.Leu1076Met)
c.2788C>A (p.Leu930Met)
n.4056C>A
3g.46999979C=CA1362362956NBEAL2c.3880C= (p.Leu1294=)
c.3778C= (p.Leu1260=)
n.217C=
c.1960-217C=
c.352C= (p.Leu118=)
c.3799C= (p.Leu1267=)
c.3859C= (p.Leu1287=)
c.3511C= (p.Leu1171=)
c.3340C= (p.Leu1114=)
c.3226C= (p.Leu1076=)
c.2788C= (p.Leu930=)
n.4056C=
3g.46999979C>GCA352516277NBEAL2c.3880C>G (p.Leu1294Val)
c.3778C>G (p.Leu1260Val)
n.217C>G
c.1960-217C>G
c.352C>G (p.Leu118Val)
c.3799C>G (p.Leu1267Val)
c.3859C>G (p.Leu1287Val)
c.3511C>G (p.Leu1171Val)
c.3340C>G (p.Leu1114Val)
c.3226C>G (p.Leu1076Val)
c.2788C>G (p.Leu930Val)
n.4056C>G
3g.46999979C>TCA73817558NBEAL2c.3880C>T (p.Leu1294=)
c.3778C>T (p.Leu1260=)
n.217C>T
c.1960-217C>T
c.352C>T (p.Leu118=)
c.3799C>T (p.Leu1267=)
c.3859C>T (p.Leu1287=)
c.3511C>T (p.Leu1171=)
c.3340C>T (p.Leu1114=)
c.3226C>T (p.Leu1076=)
c.2788C>T (p.Leu930=)
n.4056C>T
 dbSNP gnomAD v3 gnomAD v4
3g.46999980T>ACA352516279NBEAL2c.3881T>A (p.Leu1294Gln)
c.3779T>A (p.Leu1260Gln)
n.218T>A
c.1960-216T>A
c.353T>A (p.Leu118Gln)
c.3800T>A (p.Leu1267Gln)
c.3860T>A (p.Leu1287Gln)
c.3512T>A (p.Leu1171Gln)
c.3341T>A (p.Leu1114Gln)
c.3227T>A (p.Leu1076Gln)
c.2789T>A (p.Leu930Gln)
n.4057T>A
3g.46999980T>CCA352516280NBEAL2c.3881T>C (p.Leu1294Pro)
c.3779T>C (p.Leu1260Pro)
n.218T>C
c.1960-216T>C
c.353T>C (p.Leu118Pro)
c.3800T>C (p.Leu1267Pro)
c.3860T>C (p.Leu1287Pro)
c.3512T>C (p.Leu1171Pro)
c.3341T>C (p.Leu1114Pro)
c.3227T>C (p.Leu1076Pro)
c.2789T>C (p.Leu930Pro)
n.4057T>C
 gnomAD v4
3g.46999980T>GCA352516281NBEAL2c.3881T>G (p.Leu1294Arg)
c.3779T>G (p.Leu1260Arg)
n.218T>G
c.1960-216T>G
c.353T>G (p.Leu118Arg)
c.3800T>G (p.Leu1267Arg)
c.3860T>G (p.Leu1287Arg)
c.3512T>G (p.Leu1171Arg)
c.3341T>G (p.Leu1114Arg)
c.3227T>G (p.Leu1076Arg)
c.2789T>G (p.Leu930Arg)
n.4057T>G
3g.46999981G>ACA73817565NBEAL2c.3882G>A (p.Leu1294=)
c.3780G>A (p.Leu1260=)
n.219G>A
c.1960-215G>A
c.354G>A (p.Leu118=)
c.3801G>A (p.Leu1267=)
c.3861G>A (p.Leu1287=)
c.3513G>A (p.Leu1171=)
c.3342G>A (p.Leu1114=)
c.3228G>A (p.Leu1076=)
c.2790G>A (p.Leu930=)
n.4058G>A
 dbSNP gnomAD v3 gnomAD v4
3g.46999981G>CCA433598158NBEAL2c.3882G>C (p.Leu1294=)
c.3780G>C (p.Leu1260=)
n.219G>C
c.1960-215G>C
c.354G>C (p.Leu118=)
c.3801G>C (p.Leu1267=)
c.3861G>C (p.Leu1287=)
c.3513G>C (p.Leu1171=)
c.3342G>C (p.Leu1114=)
c.3228G>C (p.Leu1076=)
c.2790G>C (p.Leu930=)
n.4058G>C
3g.46999981G=CA1362362957NBEAL2c.3882G= (p.Leu1294=)
c.3780G= (p.Leu1260=)
n.219G=
c.1960-215G=
c.354G= (p.Leu118=)
c.3801G= (p.Leu1267=)
c.3861G= (p.Leu1287=)
c.3513G= (p.Leu1171=)
c.3342G= (p.Leu1114=)
c.3228G= (p.Leu1076=)
c.2790G= (p.Leu930=)
n.4058G=
3g.46999981G>TCA433598159NBEAL2c.3882G>T (p.Leu1294=)
c.3780G>T (p.Leu1260=)
n.219G>T
c.1960-215G>T
c.354G>T (p.Leu118=)
c.3801G>T (p.Leu1267=)
c.3861G>T (p.Leu1287=)
c.3513G>T (p.Leu1171=)
c.3342G>T (p.Leu1114=)
c.3228G>T (p.Leu1076=)
c.2790G>T (p.Leu930=)
n.4058G>T
3g.46999982G>ACA352516282NBEAL2c.3883G>A (p.Glu1295Lys)
c.3781G>A (p.Glu1261Lys)
n.220G>A
c.1960-214G>A
c.355G>A (p.Glu119Lys)
c.3802G>A (p.Glu1268Lys)
c.3862G>A (p.Glu1288Lys)
c.3514G>A (p.Glu1172Lys)
c.3343G>A (p.Glu1115Lys)
c.3229G>A (p.Glu1077Lys)
c.2791G>A (p.Glu931Lys)
n.4059G>A
3g.46999982G>CCA352516283NBEAL2c.3883G>C (p.Glu1295Gln)
c.3781G>C (p.Glu1261Gln)
n.220G>C
c.1960-214G>C
c.355G>C (p.Glu119Gln)
c.3802G>C (p.Glu1268Gln)
c.3862G>C (p.Glu1288Gln)
c.3514G>C (p.Glu1172Gln)
c.3343G>C (p.Glu1115Gln)
c.3229G>C (p.Glu1077Gln)
c.2791G>C (p.Glu931Gln)
n.4059G>C
 dbSNP gnomAD v2 gnomAD v4
3g.46999982G=CA1362362958NBEAL2c.3883G= (p.Glu1295=)
c.3781G= (p.Glu1261=)
n.220G=
c.1960-214G=
c.355G= (p.Glu119=)
c.3802G= (p.Glu1268=)
c.3862G= (p.Glu1288=)
c.3514G= (p.Glu1172=)
c.3343G= (p.Glu1115=)
c.3229G= (p.Glu1077=)
c.2791G= (p.Glu931=)
n.4059G=
3g.46999982G>TCA352516284NBEAL2c.3883G>T (p.Glu1295Ter)
c.3781G>T (p.Glu1261Ter)
n.220G>T
c.1960-214G>T
c.355G>T (p.Glu119Ter)
c.3802G>T (p.Glu1268Ter)
c.3862G>T (p.Glu1288Ter)
c.3514G>T (p.Glu1172Ter)
c.3343G>T (p.Glu1115Ter)
c.3229G>T (p.Glu1077Ter)
c.2791G>T (p.Glu931Ter)
n.4059G>T
3g.46999983A>CCA352516287NBEAL2c.3884A>C (p.Glu1295Ala)
c.3782A>C (p.Glu1261Ala)
n.221A>C
c.1960-213A>C
c.356A>C (p.Glu119Ala)
c.3803A>C (p.Glu1268Ala)
c.3863A>C (p.Glu1288Ala)
c.3515A>C (p.Glu1172Ala)
c.3344A>C (p.Glu1115Ala)
c.3230A>C (p.Glu1077Ala)
c.2792A>C (p.Glu931Ala)
n.4060A>C
3g.46999983A>GCA352516285NBEAL2c.3884A>G (p.Glu1295Gly)
c.3782A>G (p.Glu1261Gly)
n.221A>G
c.1960-213A>G
c.356A>G (p.Glu119Gly)
c.3803A>G (p.Glu1268Gly)
c.3863A>G (p.Glu1288Gly)
c.3515A>G (p.Glu1172Gly)
c.3344A>G (p.Glu1115Gly)
c.3230A>G (p.Glu1077Gly)
c.2792A>G (p.Glu931Gly)
n.4060A>G
3g.46999983A>TCA352516286NBEAL2c.3884A>T (p.Glu1295Val)
c.3782A>T (p.Glu1261Val)
n.221A>T
c.1960-213A>T
c.356A>T (p.Glu119Val)
c.3803A>T (p.Glu1268Val)
c.3863A>T (p.Glu1288Val)
c.3515A>T (p.Glu1172Val)
c.3344A>T (p.Glu1115Val)
c.3230A>T (p.Glu1077Val)
c.2792A>T (p.Glu931Val)
n.4060A>T
3g.46999984G>ACA433598161NBEAL2c.3885G>A (p.Glu1295=)
c.3783G>A (p.Glu1261=)
n.222G>A
c.1960-212G>A
c.357G>A (p.Glu119=)
c.3804G>A (p.Glu1268=)
c.3864G>A (p.Glu1288=)
c.3516G>A (p.Glu1172=)
c.3345G>A (p.Glu1115=)
c.3231G>A (p.Glu1077=)
c.2793G>A (p.Glu931=)
n.4061G>A
 gnomAD v4
3g.46999984G>CCA352516288NBEAL2c.3885G>C (p.Glu1295Asp)
c.3783G>C (p.Glu1261Asp)
n.222G>C
c.1960-212G>C
c.357G>C (p.Glu119Asp)
c.3804G>C (p.Glu1268Asp)
c.3864G>C (p.Glu1288Asp)
c.3516G>C (p.Glu1172Asp)
c.3345G>C (p.Glu1115Asp)
c.3231G>C (p.Glu1077Asp)
c.2793G>C (p.Glu931Asp)
n.4061G>C
3g.46999984G>TCA352516289NBEAL2c.3885G>T (p.Glu1295Asp)
c.3783G>T (p.Glu1261Asp)
n.222G>T
c.1960-212G>T
c.357G>T (p.Glu119Asp)
c.3804G>T (p.Glu1268Asp)
c.3864G>T (p.Glu1288Asp)
c.3516G>T (p.Glu1172Asp)
c.3345G>T (p.Glu1115Asp)
c.3231G>T (p.Glu1077Asp)
c.2793G>T (p.Glu931Asp)
n.4061G>T
3g.46999985G>ACA2361098NBEAL2c.3886G>A (p.Ala1296Thr)
c.3784G>A (p.Ala1262Thr)
n.223G>A
c.1960-211G>A
c.358G>A (p.Ala120Thr)
c.3805G>A (p.Ala1269Thr)
c.3865G>A (p.Ala1289Thr)
c.3517G>A (p.Ala1173Thr)
c.3346G>A (p.Ala1116Thr)
c.3232G>A (p.Ala1078Thr)
c.2794G>A (p.Ala932Thr)
n.4062G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999985G>CCA352516290NBEAL2c.3886G>C (p.Ala1296Pro)
c.3784G>C (p.Ala1262Pro)
n.223G>C
c.1960-211G>C
c.358G>C (p.Ala120Pro)
c.3805G>C (p.Ala1269Pro)
c.3865G>C (p.Ala1289Pro)
c.3517G>C (p.Ala1173Pro)
c.3346G>C (p.Ala1116Pro)
c.3232G>C (p.Ala1078Pro)
c.2794G>C (p.Ala932Pro)
n.4062G>C
3g.46999985G=CA1362362959NBEAL2c.3886G= (p.Ala1296=)
c.3784G= (p.Ala1262=)
n.223G=
c.1960-211G=
c.358G= (p.Ala120=)
c.3805G= (p.Ala1269=)
c.3865G= (p.Ala1289=)
c.3517G= (p.Ala1173=)
c.3346G= (p.Ala1116=)
c.3232G= (p.Ala1078=)
c.2794G= (p.Ala932=)
n.4062G=
3g.46999985G>TCA352516291NBEAL2c.3886G>T (p.Ala1296Ser)
c.3784G>T (p.Ala1262Ser)
n.223G>T
c.1960-211G>T
c.358G>T (p.Ala120Ser)
c.3805G>T (p.Ala1269Ser)
c.3865G>T (p.Ala1289Ser)
c.3517G>T (p.Ala1173Ser)
c.3346G>T (p.Ala1116Ser)
c.3232G>T (p.Ala1078Ser)
c.2794G>T (p.Ala932Ser)
n.4062G>T
3g.46999986C>ACA352516292NBEAL2c.3887C>A (p.Ala1296Asp)
c.3785C>A (p.Ala1262Asp)
n.224C>A
c.1960-210C>A
c.359C>A (p.Ala120Asp)
c.3806C>A (p.Ala1269Asp)
c.3866C>A (p.Ala1289Asp)
c.3518C>A (p.Ala1173Asp)
c.3347C>A (p.Ala1116Asp)
c.3233C>A (p.Ala1078Asp)
c.2795C>A (p.Ala932Asp)
n.4063C>A
3g.46999986C>GCA352516294NBEAL2c.3887C>G (p.Ala1296Gly)
c.3785C>G (p.Ala1262Gly)
n.224C>G
c.1960-210C>G
c.359C>G (p.Ala120Gly)
c.3806C>G (p.Ala1269Gly)
c.3866C>G (p.Ala1289Gly)
c.3518C>G (p.Ala1173Gly)
c.3347C>G (p.Ala1116Gly)
c.3233C>G (p.Ala1078Gly)
c.2795C>G (p.Ala932Gly)
n.4063C>G
 gnomAD v4
3g.46999986C>TCA352516293NBEAL2c.3887C>T (p.Ala1296Val)
c.3785C>T (p.Ala1262Val)
n.224C>T
c.1960-210C>T
c.359C>T (p.Ala120Val)
c.3806C>T (p.Ala1269Val)
c.3866C>T (p.Ala1289Val)
c.3518C>T (p.Ala1173Val)
c.3347C>T (p.Ala1116Val)
c.3233C>T (p.Ala1078Val)
c.2795C>T (p.Ala932Val)
n.4063C>T
3g.46999987T>ACA433598162NBEAL2c.3888T>A (p.Ala1296=)
c.3786T>A (p.Ala1262=)
n.225T>A
c.1960-209T>A
c.360T>A (p.Ala120=)
c.3807T>A (p.Ala1269=)
c.3867T>A (p.Ala1289=)
c.3519T>A (p.Ala1173=)
c.3348T>A (p.Ala1116=)
c.3234T>A (p.Ala1078=)
c.2796T>A (p.Ala932=)
n.4064T>A
3g.46999987T>CCA433598163NBEAL2c.3888T>C (p.Ala1296=)
c.3786T>C (p.Ala1262=)
n.225T>C
c.1960-209T>C
c.360T>C (p.Ala120=)
c.3807T>C (p.Ala1269=)
c.3867T>C (p.Ala1289=)
c.3519T>C (p.Ala1173=)
c.3348T>C (p.Ala1116=)
c.3234T>C (p.Ala1078=)
c.2796T>C (p.Ala932=)
n.4064T>C
3g.46999987T>GCA433598164NBEAL2c.3888T>G (p.Ala1296=)
c.3786T>G (p.Ala1262=)
n.225T>G
c.1960-209T>G
c.360T>G (p.Ala120=)
c.3807T>G (p.Ala1269=)
c.3867T>G (p.Ala1289=)
c.3519T>G (p.Ala1173=)
c.3348T>G (p.Ala1116=)
c.3234T>G (p.Ala1078=)
c.2796T>G (p.Ala932=)
n.4064T>G
3g.46999988G>ACA352516295NBEAL2c.3889G>A (p.Ala1297Thr)
c.3787G>A (p.Ala1263Thr)
n.226G>A
c.1960-208G>A
c.361G>A (p.Ala121Thr)
c.3808G>A (p.Ala1270Thr)
c.3868G>A (p.Ala1290Thr)
c.3520G>A (p.Ala1174Thr)
c.3349G>A (p.Ala1117Thr)
c.3235G>A (p.Ala1079Thr)
c.2797G>A (p.Ala933Thr)
n.4065G>A
 gnomAD v4
3g.46999988G>CCA352516296NBEAL2c.3889G>C (p.Ala1297Pro)
c.3787G>C (p.Ala1263Pro)
n.226G>C
c.1960-208G>C
c.361G>C (p.Ala121Pro)
c.3808G>C (p.Ala1270Pro)
c.3868G>C (p.Ala1290Pro)
c.3520G>C (p.Ala1174Pro)
c.3349G>C (p.Ala1117Pro)
c.3235G>C (p.Ala1079Pro)
c.2797G>C (p.Ala933Pro)
n.4065G>C
3g.46999988G=CA1362362960NBEAL2c.3889G= (p.Ala1297=)
c.3787G= (p.Ala1263=)
n.226G=
c.1960-208G=
c.361G= (p.Ala121=)
c.3808G= (p.Ala1270=)
c.3868G= (p.Ala1290=)
c.3520G= (p.Ala1174=)
c.3349G= (p.Ala1117=)
c.3235G= (p.Ala1079=)
c.2797G= (p.Ala933=)
n.4065G=
3g.46999988G>TCA2361099NBEAL2c.3889G>T (p.Ala1297Ser)
c.3787G>T (p.Ala1263Ser)
n.226G>T
c.1960-208G>T
c.361G>T (p.Ala121Ser)
c.3808G>T (p.Ala1270Ser)
c.3868G>T (p.Ala1290Ser)
c.3520G>T (p.Ala1174Ser)
c.3349G>T (p.Ala1117Ser)
c.3235G>T (p.Ala1079Ser)
c.2797G>T (p.Ala933Ser)
n.4065G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999989C>ACA352516297NBEAL2c.3890C>A (p.Ala1297Asp)
c.3788C>A (p.Ala1263Asp)
n.227C>A
c.1960-207C>A
c.362C>A (p.Ala121Asp)
c.3809C>A (p.Ala1270Asp)
c.3869C>A (p.Ala1290Asp)
c.3521C>A (p.Ala1174Asp)
c.3350C>A (p.Ala1117Asp)
c.3236C>A (p.Ala1079Asp)
c.2798C>A (p.Ala933Asp)
n.4066C>A
3g.46999989C>GCA352516298NBEAL2c.3890C>G (p.Ala1297Gly)
c.3788C>G (p.Ala1263Gly)
n.227C>G
c.1960-207C>G
c.362C>G (p.Ala121Gly)
c.3809C>G (p.Ala1270Gly)
c.3869C>G (p.Ala1290Gly)
c.3521C>G (p.Ala1174Gly)
c.3350C>G (p.Ala1117Gly)
c.3236C>G (p.Ala1079Gly)
c.2798C>G (p.Ala933Gly)
n.4066C>G
3g.46999989C>TCA352516299NBEAL2c.3890C>T (p.Ala1297Val)
c.3788C>T (p.Ala1263Val)
n.227C>T
c.1960-207C>T
c.362C>T (p.Ala121Val)
c.3809C>T (p.Ala1270Val)
c.3869C>T (p.Ala1290Val)
c.3521C>T (p.Ala1174Val)
c.3350C>T (p.Ala1117Val)
c.3236C>T (p.Ala1079Val)
c.2798C>T (p.Ala933Val)
n.4066C>T
 gnomAD v4
3g.46999990C>ACA433598165NBEAL2c.3891C>A (p.Ala1297=)
c.3789C>A (p.Ala1263=)
n.228C>A
c.1960-206C>A
c.363C>A (p.Ala121=)
c.3810C>A (p.Ala1270=)
c.3870C>A (p.Ala1290=)
c.3522C>A (p.Ala1174=)
c.3351C>A (p.Ala1117=)
c.3237C>A (p.Ala1079=)
c.2799C>A (p.Ala933=)
n.4067C>A
3g.46999990C>GCA433598166NBEAL2c.3891C>G (p.Ala1297=)
c.3789C>G (p.Ala1263=)
n.228C>G
c.1960-206C>G
c.363C>G (p.Ala121=)
c.3810C>G (p.Ala1270=)
c.3870C>G (p.Ala1290=)
c.3522C>G (p.Ala1174=)
c.3351C>G (p.Ala1117=)
c.3237C>G (p.Ala1079=)
c.2799C>G (p.Ala933=)
n.4067C>G
3g.46999990C>TCA433598168NBEAL2c.3891C>T (p.Ala1297=)
c.3789C>T (p.Ala1263=)
n.228C>T
c.1960-206C>T
c.363C>T (p.Ala121=)
c.3810C>T (p.Ala1270=)
c.3870C>T (p.Ala1290=)
c.3522C>T (p.Ala1174=)
c.3351C>T (p.Ala1117=)
c.3237C>T (p.Ala1079=)
c.2799C>T (p.Ala933=)
n.4067C>T
3g.46999991A>CCA352516300NBEAL2c.3892A>C (p.Thr1298Pro)
c.3790A>C (p.Thr1264Pro)
n.229A>C
c.1960-205A>C
c.364A>C (p.Thr122Pro)
c.3811A>C (p.Thr1271Pro)
c.3871A>C (p.Thr1291Pro)
c.3523A>C (p.Thr1175Pro)
c.3352A>C (p.Thr1118Pro)
c.3238A>C (p.Thr1080Pro)
c.2800A>C (p.Thr934Pro)
n.4068A>C
3g.46999991A>GCA352516301NBEAL2c.3892A>G (p.Thr1298Ala)
c.3790A>G (p.Thr1264Ala)
n.229A>G
c.1960-205A>G
c.364A>G (p.Thr122Ala)
c.3811A>G (p.Thr1271Ala)
c.3871A>G (p.Thr1291Ala)
c.3523A>G (p.Thr1175Ala)
c.3352A>G (p.Thr1118Ala)
c.3238A>G (p.Thr1080Ala)
c.2800A>G (p.Thr934Ala)
n.4068A>G
3g.46999991A>TCA352516302NBEAL2c.3892A>T (p.Thr1298Ser)
c.3790A>T (p.Thr1264Ser)
n.229A>T
c.1960-205A>T
c.364A>T (p.Thr122Ser)
c.3811A>T (p.Thr1271Ser)
c.3871A>T (p.Thr1291Ser)
c.3523A>T (p.Thr1175Ser)
c.3352A>T (p.Thr1118Ser)
c.3238A>T (p.Thr1080Ser)
c.2800A>T (p.Thr934Ser)
n.4068A>T
3g.46999992C>ACA352516303NBEAL2c.3893C>A (p.Thr1298Lys)
c.3791C>A (p.Thr1264Lys)
n.230C>A
c.1960-204C>A
c.365C>A (p.Thr122Lys)
c.3812C>A (p.Thr1271Lys)
c.3872C>A (p.Thr1291Lys)
c.3524C>A (p.Thr1175Lys)
c.3353C>A (p.Thr1118Lys)
c.3239C>A (p.Thr1080Lys)
c.2801C>A (p.Thr934Lys)
n.4069C>A
3g.46999992C>GCA352516304NBEAL2c.3893C>G (p.Thr1298Arg)
c.3791C>G (p.Thr1264Arg)
n.230C>G
c.1960-204C>G
c.365C>G (p.Thr122Arg)
c.3812C>G (p.Thr1271Arg)
c.3872C>G (p.Thr1291Arg)
c.3524C>G (p.Thr1175Arg)
c.3353C>G (p.Thr1118Arg)
c.3239C>G (p.Thr1080Arg)
c.2801C>G (p.Thr934Arg)
n.4069C>G
3g.46999992C>TCA352516305NBEAL2c.3893C>T (p.Thr1298Ile)
c.3791C>T (p.Thr1264Ile)
n.230C>T
c.1960-204C>T
c.365C>T (p.Thr122Ile)
c.3812C>T (p.Thr1271Ile)
c.3872C>T (p.Thr1291Ile)
c.3524C>T (p.Thr1175Ile)
c.3353C>T (p.Thr1118Ile)
c.3239C>T (p.Thr1080Ile)
c.2801C>T (p.Thr934Ile)
n.4069C>T
 gnomAD v4
3g.46999995_47000021dupCA1047549616NBEAL2c.3896_3922dup (p.Pro1307_Glu1308insAlaGlySerProProProSerSerPro)
c.3794_3820dup (p.Pro1273_Glu1274insAlaGlySerProProProSerSerPro)
n.233_259dup
c.1960-201_1960-175dup
c.368_394dup (p.Pro131_Glu132insAlaGlySerProProProSerSerPro)
c.3815_3841dup (p.Pro1280_Glu1281insAlaGlySerProProProSerSerPro)
c.3875_3901dup (p.Pro1300_Glu1301insAlaGlySerProProProSerSerPro)
c.3527_3553dup (p.Pro1184_Glu1185insAlaGlySerProProProSerSerPro)
c.3356_3382dup (p.Pro1127_Glu1128insAlaGlySerProProProSerSerPro)
c.3242_3268dup (p.Pro1089_Glu1090insAlaGlySerProProProSerSerPro)
c.2804_2830dup (p.Pro943_Glu944insAlaGlySerProProProSerSerPro)
n.4072_4098dup
 gnomAD v3 gnomAD v4
3g.46999993A>CCA433598171NBEAL2c.3894A>C (p.Thr1298=)
c.3792A>C (p.Thr1264=)
n.231A>C
c.1960-203A>C
c.366A>C (p.Thr122=)
c.3813A>C (p.Thr1271=)
c.3873A>C (p.Thr1291=)
c.3525A>C (p.Thr1175=)
c.3354A>C (p.Thr1118=)
c.3240A>C (p.Thr1080=)
c.2802A>C (p.Thr934=)
n.4070A>C
3g.46999993A>GCA433598172NBEAL2c.3894A>G (p.Thr1298=)
c.3792A>G (p.Thr1264=)
n.231A>G
c.1960-203A>G
c.366A>G (p.Thr122=)
c.3813A>G (p.Thr1271=)
c.3873A>G (p.Thr1291=)
c.3525A>G (p.Thr1175=)
c.3354A>G (p.Thr1118=)
c.3240A>G (p.Thr1080=)
c.2802A>G (p.Thr934=)
n.4070A>G
 gnomAD v4
3g.46999993A>TCA433598173NBEAL2c.3894A>T (p.Thr1298=)
c.3792A>T (p.Thr1264=)
n.231A>T
c.1960-203A>T
c.366A>T (p.Thr122=)
c.3813A>T (p.Thr1271=)
c.3873A>T (p.Thr1291=)
c.3525A>T (p.Thr1175=)
c.3354A>T (p.Thr1118=)
c.3240A>T (p.Thr1080=)
c.2802A>T (p.Thr934=)
n.4070A>T
3g.46999994G>ACA352516308NBEAL2c.3895G>A (p.Ala1299Thr)
c.3793G>A (p.Ala1265Thr)
n.232G>A
c.1960-202G>A
c.367G>A (p.Ala123Thr)
c.3814G>A (p.Ala1272Thr)
c.3874G>A (p.Ala1292Thr)
c.3526G>A (p.Ala1176Thr)
c.3355G>A (p.Ala1119Thr)
c.3241G>A (p.Ala1081Thr)
c.2803G>A (p.Ala935Thr)
n.4071G>A
3g.46999994G>CCA352516307NBEAL2c.3895G>C (p.Ala1299Pro)
c.3793G>C (p.Ala1265Pro)
n.232G>C
c.1960-202G>C
c.367G>C (p.Ala123Pro)
c.3814G>C (p.Ala1272Pro)
c.3874G>C (p.Ala1292Pro)
c.3526G>C (p.Ala1176Pro)
c.3355G>C (p.Ala1119Pro)
c.3241G>C (p.Ala1081Pro)
c.2803G>C (p.Ala935Pro)
n.4071G>C
3g.46999994G>TCA352516306NBEAL2c.3895G>T (p.Ala1299Ser)
c.3793G>T (p.Ala1265Ser)
n.232G>T
c.1960-202G>T
c.367G>T (p.Ala123Ser)
c.3814G>T (p.Ala1272Ser)
c.3874G>T (p.Ala1292Ser)
c.3526G>T (p.Ala1176Ser)
c.3355G>T (p.Ala1119Ser)
c.3241G>T (p.Ala1081Ser)
c.2803G>T (p.Ala935Ser)
n.4071G>T
3g.46999995C>ACA352516309NBEAL2c.3896C>A (p.Ala1299Asp)
c.3794C>A (p.Ala1265Asp)
n.233C>A
c.1960-201C>A
c.368C>A (p.Ala123Asp)
c.3815C>A (p.Ala1272Asp)
c.3875C>A (p.Ala1292Asp)
c.3527C>A (p.Ala1176Asp)
c.3356C>A (p.Ala1119Asp)
c.3242C>A (p.Ala1081Asp)
c.2804C>A (p.Ala935Asp)
n.4072C>A
3g.46999995C=CA1362362961NBEAL2c.3896C= (p.Ala1299=)
c.3794C= (p.Ala1265=)
n.233C=
c.1960-201C=
c.368C= (p.Ala123=)
c.3815C= (p.Ala1272=)
c.3875C= (p.Ala1292=)
c.3527C= (p.Ala1176=)
c.3356C= (p.Ala1119=)
c.3242C= (p.Ala1081=)
c.2804C= (p.Ala935=)
n.4072C=
3g.46999995C>GCA352516310NBEAL2c.3896C>G (p.Ala1299Gly)
c.3794C>G (p.Ala1265Gly)
n.233C>G
c.1960-201C>G
c.368C>G (p.Ala123Gly)
c.3815C>G (p.Ala1272Gly)
c.3875C>G (p.Ala1292Gly)
c.3527C>G (p.Ala1176Gly)
c.3356C>G (p.Ala1119Gly)
c.3242C>G (p.Ala1081Gly)
c.2804C>G (p.Ala935Gly)
n.4072C>G
3g.46999995C>TCA2361100NBEAL2c.3896C>T (p.Ala1299Val)
c.3794C>T (p.Ala1265Val)
n.233C>T
c.1960-201C>T
c.368C>T (p.Ala123Val)
c.3815C>T (p.Ala1272Val)
c.3875C>T (p.Ala1292Val)
c.3527C>T (p.Ala1176Val)
c.3356C>T (p.Ala1119Val)
c.3242C>T (p.Ala1081Val)
c.2804C>T (p.Ala935Val)
n.4072C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46999996C>ACA433598176NBEAL2c.3897C>A (p.Ala1299=)
c.3795C>A (p.Ala1265=)
n.234C>A
c.1960-200C>A
c.369C>A (p.Ala123=)
c.3816C>A (p.Ala1272=)
c.3876C>A (p.Ala1292=)
c.3528C>A (p.Ala1176=)
c.3357C>A (p.Ala1119=)
c.3243C>A (p.Ala1081=)
c.2805C>A (p.Ala935=)
n.4073C>A
3g.46999996C=CA1362362962NBEAL2c.3897C= (p.Ala1299=)
c.3795C= (p.Ala1265=)
n.234C=
c.1960-200C=
c.369C= (p.Ala123=)
c.3816C= (p.Ala1272=)
c.3876C= (p.Ala1292=)
c.3528C= (p.Ala1176=)
c.3357C= (p.Ala1119=)
c.3243C= (p.Ala1081=)
c.2805C= (p.Ala935=)
n.4073C=
3g.46999996C>GCA433598175NBEAL2c.3897C>G (p.Ala1299=)
c.3795C>G (p.Ala1265=)
n.234C>G
c.1960-200C>G
c.369C>G (p.Ala123=)
c.3816C>G (p.Ala1272=)
c.3876C>G (p.Ala1292=)
c.3528C>G (p.Ala1176=)
c.3357C>G (p.Ala1119=)
c.3243C>G (p.Ala1081=)
c.2805C>G (p.Ala935=)
n.4073C>G
3g.46999996C>TCA2361101NBEAL2c.3897C>T (p.Ala1299=)
c.3795C>T (p.Ala1265=)
n.234C>T
c.1960-200C>T
c.369C>T (p.Ala123=)
c.3816C>T (p.Ala1272=)
c.3876C>T (p.Ala1292=)
c.3528C>T (p.Ala1176=)
c.3357C>T (p.Ala1119=)
c.3243C>T (p.Ala1081=)
c.2805C>T (p.Ala935=)
n.4073C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999997G>ACA2361102NBEAL2c.3898G>A (p.Gly1300Ser)
c.3796G>A (p.Gly1266Ser)
n.235G>A
c.1960-199G>A
c.370G>A (p.Gly124Ser)
c.3817G>A (p.Gly1273Ser)
c.3877G>A (p.Gly1293Ser)
c.3529G>A (p.Gly1177Ser)
c.3358G>A (p.Gly1120Ser)
c.3244G>A (p.Gly1082Ser)
c.2806G>A (p.Gly936Ser)
n.4074G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999997G>CCA352516311NBEAL2c.3898G>C (p.Gly1300Arg)
c.3796G>C (p.Gly1266Arg)
n.235G>C
c.1960-199G>C
c.370G>C (p.Gly124Arg)
c.3817G>C (p.Gly1273Arg)
c.3877G>C (p.Gly1293Arg)
c.3529G>C (p.Gly1177Arg)
c.3358G>C (p.Gly1120Arg)
c.3244G>C (p.Gly1082Arg)
c.2806G>C (p.Gly936Arg)
n.4074G>C
3g.46999997G=CA1362362963NBEAL2c.3898G= (p.Gly1300=)
c.3796G= (p.Gly1266=)
n.235G=
c.1960-199G=
c.370G= (p.Gly124=)
c.3817G= (p.Gly1273=)
c.3877G= (p.Gly1293=)
c.3529G= (p.Gly1177=)
c.3358G= (p.Gly1120=)
c.3244G= (p.Gly1082=)
c.2806G= (p.Gly936=)
n.4074G=
3g.46999997G>TCA352516312NBEAL2c.3898G>T (p.Gly1300Cys)
c.3796G>T (p.Gly1266Cys)
n.235G>T
c.1960-199G>T
c.370G>T (p.Gly124Cys)
c.3817G>T (p.Gly1273Cys)
c.3877G>T (p.Gly1293Cys)
c.3529G>T (p.Gly1177Cys)
c.3358G>T (p.Gly1120Cys)
c.3244G>T (p.Gly1082Cys)
c.2806G>T (p.Gly936Cys)
n.4074G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999998G>ACA352516313NBEAL2c.3899G>A (p.Gly1300Asp)
c.3797G>A (p.Gly1266Asp)
n.236G>A
c.1960-198G>A
c.371G>A (p.Gly124Asp)
c.3818G>A (p.Gly1273Asp)
c.3878G>A (p.Gly1293Asp)
c.3530G>A (p.Gly1177Asp)
c.3359G>A (p.Gly1120Asp)
c.3245G>A (p.Gly1082Asp)
c.2807G>A (p.Gly936Asp)
n.4075G>A
3g.46999998G>CCA352516314NBEAL2c.3899G>C (p.Gly1300Ala)
c.3797G>C (p.Gly1266Ala)
n.236G>C
c.1960-198G>C
c.371G>C (p.Gly124Ala)
c.3818G>C (p.Gly1273Ala)
c.3878G>C (p.Gly1293Ala)
c.3530G>C (p.Gly1177Ala)
c.3359G>C (p.Gly1120Ala)
c.3245G>C (p.Gly1082Ala)
c.2807G>C (p.Gly936Ala)
n.4075G>C
3g.46999998G=CA1362362964NBEAL2c.3899G= (p.Gly1300=)
c.3797G= (p.Gly1266=)
n.236G=
c.1960-198G=
c.371G= (p.Gly124=)
c.3818G= (p.Gly1273=)
c.3878G= (p.Gly1293=)
c.3530G= (p.Gly1177=)
c.3359G= (p.Gly1120=)
c.3245G= (p.Gly1082=)
c.2807G= (p.Gly936=)
n.4075G=
3g.46999998G>TCA352516315NBEAL2c.3899G>T (p.Gly1300Val)
c.3797G>T (p.Gly1266Val)
n.236G>T
c.1960-198G>T
c.371G>T (p.Gly124Val)
c.3818G>T (p.Gly1273Val)
c.3878G>T (p.Gly1293Val)
c.3530G>T (p.Gly1177Val)
c.3359G>T (p.Gly1120Val)
c.3245G>T (p.Gly1082Val)
c.2807G>T (p.Gly936Val)
n.4075G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999999C>ACA433598177NBEAL2c.3900C>A (p.Gly1300=)
c.3798C>A (p.Gly1266=)
n.237C>A
c.1960-197C>A
c.372C>A (p.Gly124=)
c.3819C>A (p.Gly1273=)
c.3879C>A (p.Gly1293=)
c.3531C>A (p.Gly1177=)
c.3360C>A (p.Gly1120=)
c.3246C>A (p.Gly1082=)
c.2808C>A (p.Gly936=)
n.4076C>A
 dbSNP
3g.46999999C=CA1362362965NBEAL2c.3900C= (p.Gly1300=)
c.3798C= (p.Gly1266=)
n.237C=
c.1960-197C=
c.372C= (p.Gly124=)
c.3819C= (p.Gly1273=)
c.3879C= (p.Gly1293=)
c.3531C= (p.Gly1177=)
c.3360C= (p.Gly1120=)
c.3246C= (p.Gly1082=)
c.2808C= (p.Gly936=)
n.4076C=
3g.46999999C>GCA433598178NBEAL2c.3900C>G (p.Gly1300=)
c.3798C>G (p.Gly1266=)
n.237C>G
c.1960-197C>G
c.372C>G (p.Gly124=)
c.3819C>G (p.Gly1273=)
c.3879C>G (p.Gly1293=)
c.3531C>G (p.Gly1177=)
c.3360C>G (p.Gly1120=)
c.3246C>G (p.Gly1082=)
c.2808C>G (p.Gly936=)
n.4076C>G
3g.46999999C>TCA433598179NBEAL2c.3900C>T (p.Gly1300=)
c.3798C>T (p.Gly1266=)
n.237C>T
c.1960-197C>T
c.372C>T (p.Gly124=)
c.3819C>T (p.Gly1273=)
c.3879C>T (p.Gly1293=)
c.3531C>T (p.Gly1177=)
c.3360C>T (p.Gly1120=)
c.3246C>T (p.Gly1082=)
c.2808C>T (p.Gly936=)
n.4076C>T
3g.47000000A>CCA352516316NBEAL2c.3901A>C (p.Ser1301Arg)
c.3799A>C (p.Ser1267Arg)
n.238A>C
c.1960-196A>C
c.373A>C (p.Ser125Arg)
c.3820A>C (p.Ser1274Arg)
c.3880A>C (p.Ser1294Arg)
c.3532A>C (p.Ser1178Arg)
c.3361A>C (p.Ser1121Arg)
c.3247A>C (p.Ser1083Arg)
c.2809A>C (p.Ser937Arg)
n.4077A>C
 dbSNP
3g.47000000A>GCA352516317NBEAL2c.3901A>G (p.Ser1301Gly)
c.3799A>G (p.Ser1267Gly)
n.238A>G
c.1960-196A>G
c.373A>G (p.Ser125Gly)
c.3820A>G (p.Ser1274Gly)
c.3880A>G (p.Ser1294Gly)
c.3532A>G (p.Ser1178Gly)
c.3361A>G (p.Ser1121Gly)
c.3247A>G (p.Ser1083Gly)
c.2809A>G (p.Ser937Gly)
n.4077A>G
3g.47000000A>TCA352516318NBEAL2c.3901A>T (p.Ser1301Cys)
c.3799A>T (p.Ser1267Cys)
n.238A>T
c.1960-196A>T
c.373A>T (p.Ser125Cys)
c.3820A>T (p.Ser1274Cys)
c.3880A>T (p.Ser1294Cys)
c.3532A>T (p.Ser1178Cys)
c.3361A>T (p.Ser1121Cys)
c.3247A>T (p.Ser1083Cys)
c.2809A>T (p.Ser937Cys)
n.4077A>T
3g.47000001G>ACA2361103NBEAL2c.3902G>A (p.Ser1301Asn)
c.3800G>A (p.Ser1267Asn)
n.239G>A
c.1960-195G>A
c.374G>A (p.Ser125Asn)
c.3821G>A (p.Ser1274Asn)
c.3881G>A (p.Ser1294Asn)
c.3533G>A (p.Ser1178Asn)
c.3362G>A (p.Ser1121Asn)
c.3248G>A (p.Ser1083Asn)
c.2810G>A (p.Ser937Asn)
n.4078G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000001G>CCA352516319NBEAL2c.3902G>C (p.Ser1301Thr)
c.3800G>C (p.Ser1267Thr)
n.239G>C
c.1960-195G>C
c.374G>C (p.Ser125Thr)
c.3821G>C (p.Ser1274Thr)
c.3881G>C (p.Ser1294Thr)
c.3533G>C (p.Ser1178Thr)
c.3362G>C (p.Ser1121Thr)
c.3248G>C (p.Ser1083Thr)
c.2810G>C (p.Ser937Thr)
n.4078G>C
3g.47000001G=CA1362362966NBEAL2c.3902G= (p.Ser1301=)
c.3800G= (p.Ser1267=)
n.239G=
c.1960-195G=
c.374G= (p.Ser125=)
c.3821G= (p.Ser1274=)
c.3881G= (p.Ser1294=)
c.3533G= (p.Ser1178=)
c.3362G= (p.Ser1121=)
c.3248G= (p.Ser1083=)
c.2810G= (p.Ser937=)
n.4078G=
3g.47000001G>TCA352516320NBEAL2c.3902G>T (p.Ser1301Ile)
c.3800G>T (p.Ser1267Ile)
n.239G>T
c.1960-195G>T
c.374G>T (p.Ser125Ile)
c.3821G>T (p.Ser1274Ile)
c.3881G>T (p.Ser1294Ile)
c.3533G>T (p.Ser1178Ile)
c.3362G>T (p.Ser1121Ile)
c.3248G>T (p.Ser1083Ile)
c.2810G>T (p.Ser937Ile)
n.4078G>T
3g.47000002C>ACA352516321NBEAL2c.3903C>A (p.Ser1301Arg)
c.3801C>A (p.Ser1267Arg)
n.240C>A
c.1960-194C>A
c.375C>A (p.Ser125Arg)
c.3822C>A (p.Ser1274Arg)
c.3882C>A (p.Ser1294Arg)
c.3534C>A (p.Ser1178Arg)
c.3363C>A (p.Ser1121Arg)
c.3249C>A (p.Ser1083Arg)
c.2811C>A (p.Ser937Arg)
n.4079C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.47000002C=CA1362362967NBEAL2c.3903C= (p.Ser1301=)
c.3801C= (p.Ser1267=)
n.240C=
c.1960-194C=
c.375C= (p.Ser125=)
c.3822C= (p.Ser1274=)
c.3882C= (p.Ser1294=)
c.3534C= (p.Ser1178=)
c.3363C= (p.Ser1121=)
c.3249C= (p.Ser1083=)
c.2811C= (p.Ser937=)
n.4079C=
3g.47000002C>GCA352516322NBEAL2c.3903C>G (p.Ser1301Arg)
c.3801C>G (p.Ser1267Arg)
n.240C>G
c.1960-194C>G
c.375C>G (p.Ser125Arg)
c.3822C>G (p.Ser1274Arg)
c.3882C>G (p.Ser1294Arg)
c.3534C>G (p.Ser1178Arg)
c.3363C>G (p.Ser1121Arg)
c.3249C>G (p.Ser1083Arg)
c.2811C>G (p.Ser937Arg)
n.4079C>G
3g.47000002C>TCA433598180NBEAL2c.3903C>T (p.Ser1301=)
c.3801C>T (p.Ser1267=)
n.240C>T
c.1960-194C>T
c.375C>T (p.Ser125=)
c.3822C>T (p.Ser1274=)
c.3882C>T (p.Ser1294=)
c.3534C>T (p.Ser1178=)
c.3363C>T (p.Ser1121=)
c.3249C>T (p.Ser1083=)
c.2811C>T (p.Ser937=)
n.4079C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000007dupCA543042187NBEAL2c.3908dup (p.Pro1304SerfsTer20)
c.3806dup (p.Pro1270SerfsTer20)
n.245dup
c.1960-189dup
c.380dup (p.Pro128SerfsTer20)
c.3827dup (p.Pro1277SerfsTer20)
c.3887dup (p.Pro1297SerfsTer20)
c.3539dup (p.Pro1181SerfsTer20)
c.3368dup (p.Pro1124SerfsTer20)
c.3254dup (p.Pro1086SerfsTer20)
c.2816dup (p.Pro940SerfsTer20)
n.4084dup
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.47000007delCA645526743NBEAL2c.3908del (p.Pro1303LeufsTer?)
c.3806del (p.Pro1269LeufsTer?)
n.245del
c.1960-189del
c.380del (p.Pro127LeufsTer?)
c.3827del (p.Pro1276LeufsTer?)
c.3887del (p.Pro1296LeufsTer?)
c.3539del (p.Pro1180LeufsTer?)
c.3368del (p.Pro1123LeufsTer?)
c.3254del (p.Pro1085LeufsTer?)
c.2816del (p.Pro939LeufsTer?)
n.4084del
 COSMIC
3g.47000003C>ACA352516325NBEAL2c.3904C>A (p.Pro1302Thr)
c.3802C>A (p.Pro1268Thr)
n.241C>A
c.1960-193C>A
c.376C>A (p.Pro126Thr)
c.3823C>A (p.Pro1275Thr)
c.3883C>A (p.Pro1295Thr)
c.3535C>A (p.Pro1179Thr)
c.3364C>A (p.Pro1122Thr)
c.3250C>A (p.Pro1084Thr)
c.2812C>A (p.Pro938Thr)
n.4080C>A
3g.47000003C>GCA352516324NBEAL2c.3904C>G (p.Pro1302Ala)
c.3802C>G (p.Pro1268Ala)
n.241C>G
c.1960-193C>G
c.376C>G (p.Pro126Ala)
c.3823C>G (p.Pro1275Ala)
c.3883C>G (p.Pro1295Ala)
c.3535C>G (p.Pro1179Ala)
c.3364C>G (p.Pro1122Ala)
c.3250C>G (p.Pro1084Ala)
c.2812C>G (p.Pro938Ala)
n.4080C>G
3g.47000003C>TCA352516323NBEAL2c.3904C>T (p.Pro1302Ser)
c.3802C>T (p.Pro1268Ser)
n.241C>T
c.1960-193C>T
c.376C>T (p.Pro126Ser)
c.3823C>T (p.Pro1275Ser)
c.3883C>T (p.Pro1295Ser)
c.3535C>T (p.Pro1179Ser)
c.3364C>T (p.Pro1122Ser)
c.3250C>T (p.Pro1084Ser)
c.2812C>T (p.Pro938Ser)
n.4080C>T
3g.47000004C>ACA352516326NBEAL2c.3905C>A (p.Pro1302His)
c.3803C>A (p.Pro1268His)
n.242C>A
c.1960-192C>A
c.377C>A (p.Pro126His)
c.3824C>A (p.Pro1275His)
c.3884C>A (p.Pro1295His)
c.3536C>A (p.Pro1179His)
c.3365C>A (p.Pro1122His)
c.3251C>A (p.Pro1084His)
c.2813C>A (p.Pro938His)
n.4081C>A
 gnomAD v4
3g.47000004C>GCA352516327NBEAL2c.3905C>G (p.Pro1302Arg)
c.3803C>G (p.Pro1268Arg)
n.242C>G
c.1960-192C>G
c.377C>G (p.Pro126Arg)
c.3824C>G (p.Pro1275Arg)
c.3884C>G (p.Pro1295Arg)
c.3536C>G (p.Pro1179Arg)
c.3365C>G (p.Pro1122Arg)
c.3251C>G (p.Pro1084Arg)
c.2813C>G (p.Pro938Arg)
n.4081C>G
3g.47000004C>TCA352516328NBEAL2c.3905C>T (p.Pro1302Leu)
c.3803C>T (p.Pro1268Leu)
n.242C>T
c.1960-192C>T
c.377C>T (p.Pro126Leu)
c.3824C>T (p.Pro1275Leu)
c.3884C>T (p.Pro1295Leu)
c.3536C>T (p.Pro1179Leu)
c.3365C>T (p.Pro1122Leu)
c.3251C>T (p.Pro1084Leu)
c.2813C>T (p.Pro938Leu)
n.4081C>T
 gnomAD v4 COSMIC
3g.47000005C>ACA433598181NBEAL2c.3906C>A (p.Pro1302=)
c.3804C>A (p.Pro1268=)
n.243C>A
c.1960-191C>A
c.378C>A (p.Pro126=)
c.3825C>A (p.Pro1275=)
c.3885C>A (p.Pro1295=)
c.3537C>A (p.Pro1179=)
c.3366C>A (p.Pro1122=)
c.3252C>A (p.Pro1084=)
c.2814C>A (p.Pro938=)
n.4082C>A
3g.47000005C=CA1362362968NBEAL2c.3906C= (p.Pro1302=)
c.3804C= (p.Pro1268=)
n.243C=
c.1960-191C=
c.378C= (p.Pro126=)
c.3825C= (p.Pro1275=)
c.3885C= (p.Pro1295=)
c.3537C= (p.Pro1179=)
c.3366C= (p.Pro1122=)
c.3252C= (p.Pro1084=)
c.2814C= (p.Pro938=)
n.4082C=
3g.47000005C>GCA2361104NBEAL2c.3906C>G (p.Pro1302=)
c.3804C>G (p.Pro1268=)
n.243C>G
c.1960-191C>G
c.378C>G (p.Pro126=)
c.3825C>G (p.Pro1275=)
c.3885C>G (p.Pro1295=)
c.3537C>G (p.Pro1179=)
c.3366C>G (p.Pro1122=)
c.3252C>G (p.Pro1084=)
c.2814C>G (p.Pro938=)
n.4082C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000005C>TCA433598182NBEAL2c.3906C>T (p.Pro1302=)
c.3804C>T (p.Pro1268=)
n.243C>T
c.1960-191C>T
c.378C>T (p.Pro126=)
c.3825C>T (p.Pro1275=)
c.3885C>T (p.Pro1295=)
c.3537C>T (p.Pro1179=)
c.3366C>T (p.Pro1122=)
c.3252C>T (p.Pro1084=)
c.2814C>T (p.Pro938=)
n.4082C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47000006C>ACA2361105NBEAL2c.3907C>A (p.Pro1303Thr)
c.3805C>A (p.Pro1269Thr)
n.244C>A
c.1960-190C>A
c.379C>A (p.Pro127Thr)
c.3826C>A (p.Pro1276Thr)
c.3886C>A (p.Pro1296Thr)
c.3538C>A (p.Pro1180Thr)
c.3367C>A (p.Pro1123Thr)
c.3253C>A (p.Pro1085Thr)
c.2815C>A (p.Pro939Thr)
n.4083C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000006C=CA1362362969NBEAL2c.3907C= (p.Pro1303=)
c.3805C= (p.Pro1269=)
n.244C=
c.1960-190C=
c.379C= (p.Pro127=)
c.3826C= (p.Pro1276=)
c.3886C= (p.Pro1296=)
c.3538C= (p.Pro1180=)
c.3367C= (p.Pro1123=)
c.3253C= (p.Pro1085=)
c.2815C= (p.Pro939=)
n.4083C=
3g.47000006C>GCA2361106NBEAL2c.3907C>G (p.Pro1303Ala)
c.3805C>G (p.Pro1269Ala)
n.244C>G
c.1960-190C>G
c.379C>G (p.Pro127Ala)
c.3826C>G (p.Pro1276Ala)
c.3886C>G (p.Pro1296Ala)
c.3538C>G (p.Pro1180Ala)
c.3367C>G (p.Pro1123Ala)
c.3253C>G (p.Pro1085Ala)
c.2815C>G (p.Pro939Ala)
n.4083C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000006C>TCA352516329NBEAL2c.3907C>T (p.Pro1303Ser)
c.3805C>T (p.Pro1269Ser)
n.244C>T
c.1960-190C>T
c.379C>T (p.Pro127Ser)
c.3826C>T (p.Pro1276Ser)
c.3886C>T (p.Pro1296Ser)
c.3538C>T (p.Pro1180Ser)
c.3367C>T (p.Pro1123Ser)
c.3253C>T (p.Pro1085Ser)
c.2815C>T (p.Pro939Ser)
n.4083C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000007C>ACA352516330NBEAL2c.3908C>A (p.Pro1303His)
c.3806C>A (p.Pro1269His)
n.245C>A
c.1960-189C>A
c.380C>A (p.Pro127His)
c.3827C>A (p.Pro1276His)
c.3887C>A (p.Pro1296His)
c.3539C>A (p.Pro1180His)
c.3368C>A (p.Pro1123His)
c.3254C>A (p.Pro1085His)
c.2816C>A (p.Pro939His)
n.4084C>A
3g.47000007C=CA1362362970NBEAL2c.3908C= (p.Pro1303=)
c.3806C= (p.Pro1269=)
n.245C=
c.1960-189C=
c.380C= (p.Pro127=)
c.3827C= (p.Pro1276=)
c.3887C= (p.Pro1296=)
c.3539C= (p.Pro1180=)
c.3368C= (p.Pro1123=)
c.3254C= (p.Pro1085=)
c.2816C= (p.Pro939=)
n.4084C=
3g.47000007C>GCA352516331NBEAL2c.3908C>G (p.Pro1303Arg)
c.3806C>G (p.Pro1269Arg)
n.245C>G
c.1960-189C>G
c.380C>G (p.Pro127Arg)
c.3827C>G (p.Pro1276Arg)
c.3887C>G (p.Pro1296Arg)
c.3539C>G (p.Pro1180Arg)
c.3368C>G (p.Pro1123Arg)
c.3254C>G (p.Pro1085Arg)
c.2816C>G (p.Pro939Arg)
n.4084C>G
3g.47000007C>TCA2361107NBEAL2c.3908C>T (p.Pro1303Leu)
c.3806C>T (p.Pro1269Leu)
n.245C>T
c.1960-189C>T
c.380C>T (p.Pro127Leu)
c.3827C>T (p.Pro1276Leu)
c.3887C>T (p.Pro1296Leu)
c.3539C>T (p.Pro1180Leu)
c.3368C>T (p.Pro1123Leu)
c.3254C>T (p.Pro1085Leu)
c.2816C>T (p.Pro939Leu)
n.4084C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000008T>ACA433598183NBEAL2c.3909T>A (p.Pro1303=)
c.3807T>A (p.Pro1269=)
n.246T>A
c.1960-188T>A
c.381T>A (p.Pro127=)
c.3828T>A (p.Pro1276=)
c.3888T>A (p.Pro1296=)
c.3540T>A (p.Pro1180=)
c.3369T>A (p.Pro1123=)
c.3255T>A (p.Pro1085=)
c.2817T>A (p.Pro939=)
n.4085T>A
 gnomAD v4
3g.47000008T>CCA433598184NBEAL2c.3909T>C (p.Pro1303=)
c.3807T>C (p.Pro1269=)
n.246T>C
c.1960-188T>C
c.381T>C (p.Pro127=)
c.3828T>C (p.Pro1276=)
c.3888T>C (p.Pro1296=)
c.3540T>C (p.Pro1180=)
c.3369T>C (p.Pro1123=)
c.3255T>C (p.Pro1085=)
c.2817T>C (p.Pro939=)
n.4085T>C
3g.47000008T>GCA433598185NBEAL2c.3909T>G (p.Pro1303=)
c.3807T>G (p.Pro1269=)
n.246T>G
c.1960-188T>G
c.381T>G (p.Pro127=)
c.3828T>G (p.Pro1276=)
c.3888T>G (p.Pro1296=)
c.3540T>G (p.Pro1180=)
c.3369T>G (p.Pro1123=)
c.3255T>G (p.Pro1085=)
c.2817T>G (p.Pro939=)
n.4085T>G
 dbSNP
3g.47000008dupCA2586972409NBEAL2c.3909dup (p.Pro1304SerfsTer20)
c.3807dup (p.Pro1270SerfsTer20)
n.246dup
c.1960-188dup
c.381dup (p.Pro128SerfsTer20)
c.3828dup (p.Pro1277SerfsTer20)
c.3888dup (p.Pro1297SerfsTer20)
c.3540dup (p.Pro1181SerfsTer20)
c.3369dup (p.Pro1124SerfsTer20)
c.3255dup (p.Pro1086SerfsTer20)
c.2817dup (p.Pro940SerfsTer20)
n.4085dup
3g.47000009C>ACA352516332NBEAL2c.3910C>A (p.Pro1304Thr)
c.3808C>A (p.Pro1270Thr)
n.247C>A
c.1960-187C>A
c.382C>A (p.Pro128Thr)
c.3829C>A (p.Pro1277Thr)
c.3889C>A (p.Pro1297Thr)
c.3541C>A (p.Pro1181Thr)
c.3370C>A (p.Pro1124Thr)
c.3256C>A (p.Pro1086Thr)
c.2818C>A (p.Pro940Thr)
n.4086C>A
3g.47000009C=CA1362362971NBEAL2c.3910C= (p.Pro1304=)
c.3808C= (p.Pro1270=)
n.247C=
c.1960-187C=
c.382C= (p.Pro128=)
c.3829C= (p.Pro1277=)
c.3889C= (p.Pro1297=)
c.3541C= (p.Pro1181=)
c.3370C= (p.Pro1124=)
c.3256C= (p.Pro1086=)
c.2818C= (p.Pro940=)
n.4086C=
3g.47000009C>GCA352516333NBEAL2c.3910C>G (p.Pro1304Ala)
c.3808C>G (p.Pro1270Ala)
n.247C>G
c.1960-187C>G
c.382C>G (p.Pro128Ala)
c.3829C>G (p.Pro1277Ala)
c.3889C>G (p.Pro1297Ala)
c.3541C>G (p.Pro1181Ala)
c.3370C>G (p.Pro1124Ala)
c.3256C>G (p.Pro1086Ala)
c.2818C>G (p.Pro940Ala)
n.4086C>G
3g.47000009C>TCA352516334NBEAL2c.3910C>T (p.Pro1304Ser)
c.3808C>T (p.Pro1270Ser)
n.247C>T
c.1960-187C>T
c.382C>T (p.Pro128Ser)
c.3829C>T (p.Pro1277Ser)
c.3889C>T (p.Pro1297Ser)
c.3541C>T (p.Pro1181Ser)
c.3370C>T (p.Pro1124Ser)
c.3256C>T (p.Pro1086Ser)
c.2818C>T (p.Pro940Ser)
n.4086C>T
 dbSNP gnomAD v2
3g.47000010C>ACA352516336NBEAL2c.3911C>A (p.Pro1304Gln)
c.3809C>A (p.Pro1270Gln)
n.248C>A
c.1960-186C>A
c.383C>A (p.Pro128Gln)
c.3830C>A (p.Pro1277Gln)
c.3890C>A (p.Pro1297Gln)
c.3542C>A (p.Pro1181Gln)
c.3371C>A (p.Pro1124Gln)
c.3257C>A (p.Pro1086Gln)
c.2819C>A (p.Pro940Gln)
n.4087C>A
3g.47000010C=CA1362362972NBEAL2c.3911C= (p.Pro1304=)
c.3809C= (p.Pro1270=)
n.248C=
c.1960-186C=
c.383C= (p.Pro128=)
c.3830C= (p.Pro1277=)
c.3890C= (p.Pro1297=)
c.3542C= (p.Pro1181=)
c.3371C= (p.Pro1124=)
c.3257C= (p.Pro1086=)
c.2819C= (p.Pro940=)
n.4087C=
3g.47000010C>GCA352516335NBEAL2c.3911C>G (p.Pro1304Arg)
c.3809C>G (p.Pro1270Arg)
n.248C>G
c.1960-186C>G
c.383C>G (p.Pro128Arg)
c.3830C>G (p.Pro1277Arg)
c.3890C>G (p.Pro1297Arg)
c.3542C>G (p.Pro1181Arg)
c.3371C>G (p.Pro1124Arg)
c.3257C>G (p.Pro1086Arg)
c.2819C>G (p.Pro940Arg)
n.4087C>G
3g.47000010C>TCA2361108NBEAL2c.3911C>T (p.Pro1304Leu)
c.3809C>T (p.Pro1270Leu)
n.248C>T
c.1960-186C>T
c.383C>T (p.Pro128Leu)
c.3830C>T (p.Pro1277Leu)
c.3890C>T (p.Pro1297Leu)
c.3542C>T (p.Pro1181Leu)
c.3371C>T (p.Pro1124Leu)
c.3257C>T (p.Pro1086Leu)
c.2819C>T (p.Pro940Leu)
n.4087C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000011G>ACA433598186NBEAL2c.3912G>A (p.Pro1304=)
c.3810G>A (p.Pro1270=)
n.249G>A
c.1960-185G>A
c.384G>A (p.Pro128=)
c.3831G>A (p.Pro1277=)
c.3891G>A (p.Pro1297=)
c.3543G>A (p.Pro1181=)
c.3372G>A (p.Pro1124=)
c.3258G>A (p.Pro1086=)
c.2820G>A (p.Pro940=)
n.4088G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000011G>CCA433598187NBEAL2c.3912G>C (p.Pro1304=)
c.3810G>C (p.Pro1270=)
n.249G>C
c.1960-185G>C
c.384G>C (p.Pro128=)
c.3831G>C (p.Pro1277=)
c.3891G>C (p.Pro1297=)
c.3543G>C (p.Pro1181=)
c.3372G>C (p.Pro1124=)
c.3258G>C (p.Pro1086=)
c.2820G>C (p.Pro940=)
n.4088G>C
3g.47000011G=CA1362362973NBEAL2c.3912G= (p.Pro1304=)
c.3810G= (p.Pro1270=)
n.249G=
c.1960-185G=
c.384G= (p.Pro128=)
c.3831G= (p.Pro1277=)
c.3891G= (p.Pro1297=)
c.3543G= (p.Pro1181=)
c.3372G= (p.Pro1124=)
c.3258G= (p.Pro1086=)
c.2820G= (p.Pro940=)
n.4088G=
3g.47000011G>TCA433598188NBEAL2c.3912G>T (p.Pro1304=)
c.3810G>T (p.Pro1270=)
n.249G>T
c.1960-185G>T
c.384G>T (p.Pro128=)
c.3831G>T (p.Pro1277=)
c.3891G>T (p.Pro1297=)
c.3543G>T (p.Pro1181=)
c.3372G>T (p.Pro1124=)
c.3258G>T (p.Pro1086=)
c.2820G>T (p.Pro940=)
n.4088G>T
 gnomAD v4
3g.47000012T>ACA352516337NBEAL2c.3913T>A (p.Ser1305Thr)
c.3811T>A (p.Ser1271Thr)
n.250T>A
c.1960-184T>A
c.385T>A (p.Ser129Thr)
c.3832T>A (p.Ser1278Thr)
c.3892T>A (p.Ser1298Thr)
c.3544T>A (p.Ser1182Thr)
c.3373T>A (p.Ser1125Thr)
c.3259T>A (p.Ser1087Thr)
c.2821T>A (p.Ser941Thr)
n.4089T>A
3g.47000012T>CCA352516338NBEAL2c.3913T>C (p.Ser1305Pro)
c.3811T>C (p.Ser1271Pro)
n.250T>C
c.1960-184T>C
c.385T>C (p.Ser129Pro)
c.3832T>C (p.Ser1278Pro)
c.3892T>C (p.Ser1298Pro)
c.3544T>C (p.Ser1182Pro)
c.3373T>C (p.Ser1125Pro)
c.3259T>C (p.Ser1087Pro)
c.2821T>C (p.Ser941Pro)
n.4089T>C
3g.47000012T>GCA352516339NBEAL2c.3913T>G (p.Ser1305Ala)
c.3811T>G (p.Ser1271Ala)
n.250T>G
c.1960-184T>G
c.385T>G (p.Ser129Ala)
c.3832T>G (p.Ser1278Ala)
c.3892T>G (p.Ser1298Ala)
c.3544T>G (p.Ser1182Ala)
c.3373T>G (p.Ser1125Ala)
c.3259T>G (p.Ser1087Ala)
c.2821T>G (p.Ser941Ala)
n.4089T>G
 dbSNP
3g.47000013C>ACA352516340NBEAL2c.3914C>A (p.Ser1305Tyr)
c.3812C>A (p.Ser1271Tyr)
n.251C>A
c.1960-183C>A
c.386C>A (p.Ser129Tyr)
c.3833C>A (p.Ser1278Tyr)
c.3893C>A (p.Ser1298Tyr)
c.3545C>A (p.Ser1182Tyr)
c.3374C>A (p.Ser1125Tyr)
c.3260C>A (p.Ser1087Tyr)
c.2822C>A (p.Ser941Tyr)
n.4090C>A
3g.47000013C>GCA352516341NBEAL2c.3914C>G (p.Ser1305Cys)
c.3812C>G (p.Ser1271Cys)
n.251C>G
c.1960-183C>G
c.386C>G (p.Ser129Cys)
c.3833C>G (p.Ser1278Cys)
c.3893C>G (p.Ser1298Cys)
c.3545C>G (p.Ser1182Cys)
c.3374C>G (p.Ser1125Cys)
c.3260C>G (p.Ser1087Cys)
c.2822C>G (p.Ser941Cys)
n.4090C>G
3g.47000013C>TCA352516342NBEAL2c.3914C>T (p.Ser1305Phe)
c.3812C>T (p.Ser1271Phe)
n.251C>T
c.1960-183C>T
c.386C>T (p.Ser129Phe)
c.3833C>T (p.Ser1278Phe)
c.3893C>T (p.Ser1298Phe)
c.3545C>T (p.Ser1182Phe)
c.3374C>T (p.Ser1125Phe)
c.3260C>T (p.Ser1087Phe)
c.2822C>T (p.Ser941Phe)
n.4090C>T
3g.47000014T>ACA433598189NBEAL2c.3915T>A (p.Ser1305=)
c.3813T>A (p.Ser1271=)
n.252T>A
c.1960-182T>A
c.387T>A (p.Ser129=)
c.3834T>A (p.Ser1278=)
c.3894T>A (p.Ser1298=)
c.3546T>A (p.Ser1182=)
c.3375T>A (p.Ser1125=)
c.3261T>A (p.Ser1087=)
c.2823T>A (p.Ser941=)
n.4091T>A
3g.47000014T>CCA433598190NBEAL2c.3915T>C (p.Ser1305=)
c.3813T>C (p.Ser1271=)
n.252T>C
c.1960-182T>C
c.387T>C (p.Ser129=)
c.3834T>C (p.Ser1278=)
c.3894T>C (p.Ser1298=)
c.3546T>C (p.Ser1182=)
c.3375T>C (p.Ser1125=)
c.3261T>C (p.Ser1087=)
c.2823T>C (p.Ser941=)
n.4091T>C
3g.47000014T>GCA433598191NBEAL2c.3915T>G (p.Ser1305=)
c.3813T>G (p.Ser1271=)
n.252T>G
c.1960-182T>G
c.387T>G (p.Ser129=)
c.3834T>G (p.Ser1278=)
c.3894T>G (p.Ser1298=)
c.3546T>G (p.Ser1182=)
c.3375T>G (p.Ser1125=)
c.3261T>G (p.Ser1087=)
c.2823T>G (p.Ser941=)
n.4091T>G
3g.47000015T>ACA352516343NBEAL2c.3916T>A (p.Ser1306Thr)
c.3814T>A (p.Ser1272Thr)
n.253T>A
c.1960-181T>A
c.388T>A (p.Ser130Thr)
c.3835T>A (p.Ser1279Thr)
c.3895T>A (p.Ser1299Thr)
c.3547T>A (p.Ser1183Thr)
c.3376T>A (p.Ser1126Thr)
c.3262T>A (p.Ser1088Thr)
c.2824T>A (p.Ser942Thr)
n.4092T>A
3g.47000015T>CCA352516344NBEAL2c.3916T>C (p.Ser1306Pro)
c.3814T>C (p.Ser1272Pro)
n.253T>C
c.1960-181T>C
c.388T>C (p.Ser130Pro)
c.3835T>C (p.Ser1279Pro)
c.3895T>C (p.Ser1299Pro)
c.3547T>C (p.Ser1183Pro)
c.3376T>C (p.Ser1126Pro)
c.3262T>C (p.Ser1088Pro)
c.2824T>C (p.Ser942Pro)
n.4092T>C
3g.47000015T>GCA352516345NBEAL2c.3916T>G (p.Ser1306Ala)
c.3814T>G (p.Ser1272Ala)
n.253T>G
c.1960-181T>G
c.388T>G (p.Ser130Ala)
c.3835T>G (p.Ser1279Ala)
c.3895T>G (p.Ser1299Ala)
c.3547T>G (p.Ser1183Ala)
c.3376T>G (p.Ser1126Ala)
c.3262T>G (p.Ser1088Ala)
c.2824T>G (p.Ser942Ala)
n.4092T>G
3g.47000016C>ACA352516346NBEAL2c.3917C>A (p.Ser1306Tyr)
c.3815C>A (p.Ser1272Tyr)
n.254C>A
c.1960-180C>A
c.389C>A (p.Ser130Tyr)
c.3836C>A (p.Ser1279Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3548C>A (p.Ser1183Tyr)
c.3377C>A (p.Ser1126Tyr)
c.3263C>A (p.Ser1088Tyr)
c.2825C>A (p.Ser942Tyr)
n.4093C>A
3g.47000016C>GCA352516347NBEAL2c.3917C>G (p.Ser1306Cys)
c.3815C>G (p.Ser1272Cys)
n.254C>G
c.1960-180C>G
c.389C>G (p.Ser130Cys)
c.3836C>G (p.Ser1279Cys)
c.3896C>G (p.Ser1299Cys)
c.3548C>G (p.Ser1183Cys)
c.3377C>G (p.Ser1126Cys)
c.3263C>G (p.Ser1088Cys)
c.2825C>G (p.Ser942Cys)
n.4093C>G
3g.47000016C>TCA352516348NBEAL2c.3917C>T (p.Ser1306Phe)
c.3815C>T (p.Ser1272Phe)
n.254C>T
c.1960-180C>T
c.389C>T (p.Ser130Phe)
c.3836C>T (p.Ser1279Phe)
c.3896C>T (p.Ser1299Phe)
c.3548C>T (p.Ser1183Phe)
c.3377C>T (p.Ser1126Phe)
c.3263C>T (p.Ser1088Phe)
c.2825C>T (p.Ser942Phe)
n.4093C>T
3g.47000019delCA2665493218NBEAL2c.3920del (p.Pro1307GlnfsTer?)
c.3818del (p.Pro1273GlnfsTer?)
n.257del
c.1960-177del
c.392del (p.Pro131GlnfsTer?)
c.3839del (p.Pro1280GlnfsTer?)
c.3899del (p.Pro1300GlnfsTer?)
c.3551del (p.Pro1184GlnfsTer?)
c.3380del (p.Pro1127GlnfsTer?)
c.3266del (p.Pro1089GlnfsTer?)
c.2828del (p.Pro943GlnfsTer?)
n.4096del
 ClinVar gnomAD v4
3g.47000017C>ACA433598192NBEAL2c.3918C>A (p.Ser1306=)
c.3816C>A (p.Ser1272=)
n.255C>A
c.1960-179C>A
c.390C>A (p.Ser130=)
c.3837C>A (p.Ser1279=)
c.3897C>A (p.Ser1299=)
c.3549C>A (p.Ser1183=)
c.3378C>A (p.Ser1126=)
c.3264C>A (p.Ser1088=)
c.2826C>A (p.Ser942=)
n.4094C>A
3g.47000017C=CA1362362974NBEAL2c.3918C= (p.Ser1306=)
c.3816C= (p.Ser1272=)
n.255C=
c.1960-179C=
c.390C= (p.Ser130=)
c.3837C= (p.Ser1279=)
c.3897C= (p.Ser1299=)
c.3549C= (p.Ser1183=)
c.3378C= (p.Ser1126=)
c.3264C= (p.Ser1088=)
c.2826C= (p.Ser942=)
n.4094C=
3g.47000017C>GCA433598193NBEAL2c.3918C>G (p.Ser1306=)
c.3816C>G (p.Ser1272=)
n.255C>G
c.1960-179C>G
c.390C>G (p.Ser130=)
c.3837C>G (p.Ser1279=)
c.3897C>G (p.Ser1299=)
c.3549C>G (p.Ser1183=)
c.3378C>G (p.Ser1126=)
c.3264C>G (p.Ser1088=)
c.2826C>G (p.Ser942=)
n.4094C>G
3g.47000017C>TCA2361109NBEAL2c.3918C>T (p.Ser1306=)
c.3816C>T (p.Ser1272=)
n.255C>T
c.1960-179C>T
c.390C>T (p.Ser130=)
c.3837C>T (p.Ser1279=)
c.3897C>T (p.Ser1299=)
c.3549C>T (p.Ser1183=)
c.3378C>T (p.Ser1126=)
c.3264C>T (p.Ser1088=)
c.2826C>T (p.Ser942=)
n.4094C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000018C>ACA352516350NBEAL2c.3919C>A (p.Pro1307Thr)
c.3817C>A (p.Pro1273Thr)
n.256C>A
c.1960-178C>A
c.391C>A (p.Pro131Thr)
c.3838C>A (p.Pro1280Thr)
c.3898C>A (p.Pro1300Thr)
c.3550C>A (p.Pro1184Thr)
c.3379C>A (p.Pro1127Thr)
c.3265C>A (p.Pro1089Thr)
c.2827C>A (p.Pro943Thr)
n.4095C>A
3g.47000018C=CA1362362975NBEAL2c.3919C= (p.Pro1307=)
c.3817C= (p.Pro1273=)
n.256C=
c.1960-178C=
c.391C= (p.Pro131=)
c.3838C= (p.Pro1280=)
c.3898C= (p.Pro1300=)
c.3550C= (p.Pro1184=)
c.3379C= (p.Pro1127=)
c.3265C= (p.Pro1089=)
c.2827C= (p.Pro943=)
n.4095C=
3g.47000018C>GCA352516349NBEAL2c.3919C>G (p.Pro1307Ala)
c.3817C>G (p.Pro1273Ala)
n.256C>G
c.1960-178C>G
c.391C>G (p.Pro131Ala)
c.3838C>G (p.Pro1280Ala)
c.3898C>G (p.Pro1300Ala)
c.3550C>G (p.Pro1184Ala)
c.3379C>G (p.Pro1127Ala)
c.3265C>G (p.Pro1089Ala)
c.2827C>G (p.Pro943Ala)
n.4095C>G
3g.47000018C>TCA2361110NBEAL2c.3919C>T (p.Pro1307Ser)
c.3817C>T (p.Pro1273Ser)
n.256C>T
c.1960-178C>T
c.391C>T (p.Pro131Ser)
c.3838C>T (p.Pro1280Ser)
c.3898C>T (p.Pro1300Ser)
c.3550C>T (p.Pro1184Ser)
c.3379C>T (p.Pro1127Ser)
c.3265C>T (p.Pro1089Ser)
c.2827C>T (p.Pro943Ser)
n.4095C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000019C>ACA352516351NBEAL2c.3920C>A (p.Pro1307Gln)
c.3818C>A (p.Pro1273Gln)
n.257C>A
c.1960-177C>A
c.392C>A (p.Pro131Gln)
c.3839C>A (p.Pro1280Gln)
c.3899C>A (p.Pro1300Gln)
c.3551C>A (p.Pro1184Gln)
c.3380C>A (p.Pro1127Gln)
c.3266C>A (p.Pro1089Gln)
c.2828C>A (p.Pro943Gln)
n.4096C>A
3g.47000019C>GCA352516353NBEAL2c.3920C>G (p.Pro1307Arg)
c.3818C>G (p.Pro1273Arg)
n.257C>G
c.1960-177C>G
c.392C>G (p.Pro131Arg)
c.3839C>G (p.Pro1280Arg)
c.3899C>G (p.Pro1300Arg)
c.3551C>G (p.Pro1184Arg)
c.3380C>G (p.Pro1127Arg)
c.3266C>G (p.Pro1089Arg)
c.2828C>G (p.Pro943Arg)
n.4096C>G
3g.47000019C>TCA352516354NBEAL2c.3920C>T (p.Pro1307Leu)
c.3818C>T (p.Pro1273Leu)
n.257C>T
c.1960-177C>T
c.392C>T (p.Pro131Leu)
c.3839C>T (p.Pro1280Leu)
c.3899C>T (p.Pro1300Leu)
c.3551C>T (p.Pro1184Leu)
c.3380C>T (p.Pro1127Leu)
c.3266C>T (p.Pro1089Leu)
c.2828C>T (p.Pro943Leu)
n.4096C>T
3g.47000020_47000031delCA2665493219NBEAL2c.3921_3932del (p.Glu1308_Thr1311del)
c.3819_3830del (p.Glu1274_Thr1277del)
n.258_269del
c.1960-176_1960-165del
c.393_404del (p.Glu132_Thr135del)
c.3840_3851del (p.Glu1281_Thr1284del)
c.3900_3911del (p.Glu1301_Thr1304del)
c.3552_3563del (p.Glu1185_Thr1188del)
c.3381_3392del (p.Glu1128_Thr1131del)
c.3267_3278del (p.Glu1090_Thr1093del)
c.2829_2840del (p.Glu944_Thr947del)
n.4097_4108del
 gnomAD v4
3g.47000020A=CA1362362976NBEAL2c.3921A= (p.Pro1307=)
c.3819A= (p.Pro1273=)
n.258A=
c.1960-176A=
c.393A= (p.Pro131=)
c.3840A= (p.Pro1280=)
c.3900A= (p.Pro1300=)
c.3552A= (p.Pro1184=)
c.3381A= (p.Pro1127=)
c.3267A= (p.Pro1089=)
c.2829A= (p.Pro943=)
n.4097A=
3g.47000020A>CCA433598194NBEAL2c.3921A>C (p.Pro1307=)
c.3819A>C (p.Pro1273=)
n.258A>C
c.1960-176A>C
c.393A>C (p.Pro131=)
c.3840A>C (p.Pro1280=)
c.3900A>C (p.Pro1300=)
c.3552A>C (p.Pro1184=)
c.3381A>C (p.Pro1127=)
c.3267A>C (p.Pro1089=)
c.2829A>C (p.Pro943=)
n.4097A>C
 gnomAD v3 gnomAD v4
3g.47000020A>GCA2361111NBEAL2c.3921A>G (p.Pro1307=)
c.3819A>G (p.Pro1273=)
n.258A>G
c.1960-176A>G
c.393A>G (p.Pro131=)
c.3840A>G (p.Pro1280=)
c.3900A>G (p.Pro1300=)
c.3552A>G (p.Pro1184=)
c.3381A>G (p.Pro1127=)
c.3267A>G (p.Pro1089=)
c.2829A>G (p.Pro943=)
n.4097A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000020A>TCA433598195NBEAL2c.3921A>T (p.Pro1307=)
c.3819A>T (p.Pro1273=)
n.258A>T
c.1960-176A>T
c.393A>T (p.Pro131=)
c.3840A>T (p.Pro1280=)
c.3900A>T (p.Pro1300=)
c.3552A>T (p.Pro1184=)
c.3381A>T (p.Pro1127=)
c.3267A>T (p.Pro1089=)
c.2829A>T (p.Pro943=)
n.4097A>T
3g.47000021G>ACA352516359NBEAL2c.3922G>A (p.Glu1308Lys)
c.3820G>A (p.Glu1274Lys)
n.259G>A
c.1960-175G>A
c.394G>A (p.Glu132Lys)
c.3841G>A (p.Glu1281Lys)
c.3901G>A (p.Glu1301Lys)
c.3553G>A (p.Glu1185Lys)
c.3382G>A (p.Glu1128Lys)
c.3268G>A (p.Glu1090Lys)
c.2830G>A (p.Glu944Lys)
n.4098G>A
3g.47000021G>CCA352516360NBEAL2c.3922G>C (p.Glu1308Gln)
c.3820G>C (p.Glu1274Gln)
n.259G>C
c.1960-175G>C
c.394G>C (p.Glu132Gln)
c.3841G>C (p.Glu1281Gln)
c.3901G>C (p.Glu1301Gln)
c.3553G>C (p.Glu1185Gln)
c.3382G>C (p.Glu1128Gln)
c.3268G>C (p.Glu1090Gln)
c.2830G>C (p.Glu944Gln)
n.4098G>C
3g.47000021G>TCA352516362NBEAL2c.3922G>T (p.Glu1308Ter)
c.3820G>T (p.Glu1274Ter)
n.259G>T
c.1960-175G>T
c.394G>T (p.Glu132Ter)
c.3841G>T (p.Glu1281Ter)
c.3901G>T (p.Glu1301Ter)
c.3553G>T (p.Glu1185Ter)
c.3382G>T (p.Glu1128Ter)
c.3268G>T (p.Glu1090Ter)
c.2830G>T (p.Glu944Ter)
n.4098G>T
3g.47000022A=CA1362362977NBEAL2c.3923A= (p.Glu1308=)
c.3821A= (p.Glu1274=)
n.260A=
c.1960-174A=
c.395A= (p.Glu132=)
c.3842A= (p.Glu1281=)
c.3902A= (p.Glu1301=)
c.3554A= (p.Glu1185=)
c.3383A= (p.Glu1128=)
c.3269A= (p.Glu1090=)
c.2831A= (p.Glu944=)
n.4099A=
3g.47000022A>CCA2361112NBEAL2c.3923A>C (p.Glu1308Ala)
c.3821A>C (p.Glu1274Ala)
n.260A>C
c.1960-174A>C
c.395A>C (p.Glu132Ala)
c.3842A>C (p.Glu1281Ala)
c.3902A>C (p.Glu1301Ala)
c.3554A>C (p.Glu1185Ala)
c.3383A>C (p.Glu1128Ala)
c.3269A>C (p.Glu1090Ala)
c.2831A>C (p.Glu944Ala)
n.4099A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000022A>GCA352516365NBEAL2c.3923A>G (p.Glu1308Gly)
c.3821A>G (p.Glu1274Gly)
n.260A>G
c.1960-174A>G
c.395A>G (p.Glu132Gly)
c.3842A>G (p.Glu1281Gly)
c.3902A>G (p.Glu1301Gly)
c.3554A>G (p.Glu1185Gly)
c.3383A>G (p.Glu1128Gly)
c.3269A>G (p.Glu1090Gly)
c.2831A>G (p.Glu944Gly)
n.4099A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000022A>TCA352516366NBEAL2c.3923A>T (p.Glu1308Val)
c.3821A>T (p.Glu1274Val)
n.260A>T
c.1960-174A>T
c.395A>T (p.Glu132Val)
c.3842A>T (p.Glu1281Val)
c.3902A>T (p.Glu1301Val)
c.3554A>T (p.Glu1185Val)
c.3383A>T (p.Glu1128Val)
c.3269A>T (p.Glu1090Val)
c.2831A>T (p.Glu944Val)
n.4099A>T
3g.47000023G>ACA433598196NBEAL2c.3924G>A (p.Glu1308=)
c.3822G>A (p.Glu1274=)
n.261G>A
c.1960-173G>A
c.396G>A (p.Glu132=)
c.3843G>A (p.Glu1281=)
c.3903G>A (p.Glu1301=)
c.3555G>A (p.Glu1185=)
c.3384G>A (p.Glu1128=)
c.3270G>A (p.Glu1090=)
c.2832G>A (p.Glu944=)
n.4100G>A
 dbSNP gnomAD v4
3g.47000023G>CCA352516368NBEAL2c.3924G>C (p.Glu1308Asp)
c.3822G>C (p.Glu1274Asp)
n.261G>C
c.1960-173G>C
c.396G>C (p.Glu132Asp)
c.3843G>C (p.Glu1281Asp)
c.3903G>C (p.Glu1301Asp)
c.3555G>C (p.Glu1185Asp)
c.3384G>C (p.Glu1128Asp)
c.3270G>C (p.Glu1090Asp)
c.2832G>C (p.Glu944Asp)
n.4100G>C
3g.47000023G=CA1362362978NBEAL2c.3924G= (p.Glu1308=)
c.3822G= (p.Glu1274=)
n.261G=
c.1960-173G=
c.396G= (p.Glu132=)
c.3843G= (p.Glu1281=)
c.3903G= (p.Glu1301=)
c.3555G= (p.Glu1185=)
c.3384G= (p.Glu1128=)
c.3270G= (p.Glu1090=)
c.2832G= (p.Glu944=)
n.4100G=
3g.47000023G>TCA352516370NBEAL2c.3924G>T (p.Glu1308Asp)
c.3822G>T (p.Glu1274Asp)
n.261G>T
c.1960-173G>T
c.396G>T (p.Glu132Asp)
c.3843G>T (p.Glu1281Asp)
c.3903G>T (p.Glu1301Asp)
c.3555G>T (p.Glu1185Asp)
c.3384G>T (p.Glu1128Asp)
c.3270G>T (p.Glu1090Asp)
c.2832G>T (p.Glu944Asp)
n.4100G>T
 gnomAD v4
3g.47000024T>ACA352516373NBEAL2c.3925T>A (p.Ser1309Thr)
c.3823T>A (p.Ser1275Thr)
n.262T>A
c.1960-172T>A
c.397T>A (p.Ser133Thr)
c.3844T>A (p.Ser1282Thr)
c.3904T>A (p.Ser1302Thr)
c.3556T>A (p.Ser1186Thr)
c.3385T>A (p.Ser1129Thr)
c.3271T>A (p.Ser1091Thr)
c.2833T>A (p.Ser945Thr)
n.4101T>A
3g.47000024T>CCA352516377NBEAL2c.3925T>C (p.Ser1309Pro)
c.3823T>C (p.Ser1275Pro)
n.262T>C
c.1960-172T>C
c.397T>C (p.Ser133Pro)
c.3844T>C (p.Ser1282Pro)
c.3904T>C (p.Ser1302Pro)
c.3556T>C (p.Ser1186Pro)
c.3385T>C (p.Ser1129Pro)
c.3271T>C (p.Ser1091Pro)
c.2833T>C (p.Ser945Pro)
n.4101T>C
3g.47000024T>GCA352516375NBEAL2c.3925T>G (p.Ser1309Ala)
c.3823T>G (p.Ser1275Ala)
n.262T>G
c.1960-172T>G
c.397T>G (p.Ser133Ala)
c.3844T>G (p.Ser1282Ala)
c.3904T>G (p.Ser1302Ala)
c.3556T>G (p.Ser1186Ala)
c.3385T>G (p.Ser1129Ala)
c.3271T>G (p.Ser1091Ala)
c.2833T>G (p.Ser945Ala)
n.4101T>G
 gnomAD v3 gnomAD v4
3g.47000025C>ACA352516380NBEAL2c.3926C>A (p.Ser1309Ter)
c.3824C>A (p.Ser1275Ter)
n.263C>A
c.1960-171C>A
c.398C>A (p.Ser133Ter)
c.3845C>A (p.Ser1282Ter)
c.3905C>A (p.Ser1302Ter)
c.3557C>A (p.Ser1186Ter)
c.3386C>A (p.Ser1129Ter)
c.3272C>A (p.Ser1091Ter)
c.2834C>A (p.Ser945Ter)
n.4102C>A
3g.47000025C>GCA352516383NBEAL2c.3926C>G (p.Ser1309Ter)
c.3824C>G (p.Ser1275Ter)
n.263C>G
c.1960-171C>G
c.398C>G (p.Ser133Ter)
c.3845C>G (p.Ser1282Ter)
c.3905C>G (p.Ser1302Ter)
c.3557C>G (p.Ser1186Ter)
c.3386C>G (p.Ser1129Ter)
c.3272C>G (p.Ser1091Ter)
c.2834C>G (p.Ser945Ter)
n.4102C>G
3g.47000025C>TCA352516381NBEAL2c.3926C>T (p.Ser1309Leu)
c.3824C>T (p.Ser1275Leu)
n.263C>T
c.1960-171C>T
c.398C>T (p.Ser133Leu)
c.3845C>T (p.Ser1282Leu)
c.3905C>T (p.Ser1302Leu)
c.3557C>T (p.Ser1186Leu)
c.3386C>T (p.Ser1129Leu)
c.3272C>T (p.Ser1091Leu)
c.2834C>T (p.Ser945Leu)
n.4102C>T
 dbSNP
3g.47000026A=CA1362362979NBEAL2c.3927A= (p.Ser1309=)
c.3825A= (p.Ser1275=)
n.264A=
c.1960-170A=
c.399A= (p.Ser133=)
c.3846A= (p.Ser1282=)
c.3906A= (p.Ser1302=)
c.3558A= (p.Ser1186=)
c.3387A= (p.Ser1129=)
c.3273A= (p.Ser1091=)
c.2835A= (p.Ser945=)
n.4103A=
3g.47000026A>CCA433598199NBEAL2c.3927A>C (p.Ser1309=)
c.3825A>C (p.Ser1275=)
n.264A>C
c.1960-170A>C
c.399A>C (p.Ser133=)
c.3846A>C (p.Ser1282=)
c.3906A>C (p.Ser1302=)
c.3558A>C (p.Ser1186=)
c.3387A>C (p.Ser1129=)
c.3273A>C (p.Ser1091=)
c.2835A>C (p.Ser945=)
n.4103A>C
 dbSNP
3g.47000026A>GCA433598197NBEAL2c.3927A>G (p.Ser1309=)
c.3825A>G (p.Ser1275=)
n.264A>G
c.1960-170A>G
c.399A>G (p.Ser133=)
c.3846A>G (p.Ser1282=)
c.3906A>G (p.Ser1302=)
c.3558A>G (p.Ser1186=)
c.3387A>G (p.Ser1129=)
c.3273A>G (p.Ser1091=)
c.2835A>G (p.Ser945=)
n.4103A>G
3g.47000026A>TCA433598198NBEAL2c.3927A>T (p.Ser1309=)
c.3825A>T (p.Ser1275=)
n.264A>T
c.1960-170A>T
c.399A>T (p.Ser133=)
c.3846A>T (p.Ser1282=)
c.3906A>T (p.Ser1302=)
c.3558A>T (p.Ser1186=)
c.3387A>T (p.Ser1129=)
c.3273A>T (p.Ser1091=)
c.2835A>T (p.Ser945=)
n.4103A>T
3g.47000027C>ACA352516386NBEAL2c.3928C>A (p.Pro1310Thr)
c.3826C>A (p.Pro1276Thr)
n.265C>A
c.1960-169C>A
c.400C>A (p.Pro134Thr)
c.3847C>A (p.Pro1283Thr)
c.3907C>A (p.Pro1303Thr)
c.3559C>A (p.Pro1187Thr)
c.3388C>A (p.Pro1130Thr)
c.3274C>A (p.Pro1092Thr)
c.2836C>A (p.Pro946Thr)
n.4104C>A
3g.47000027C>GCA352516388NBEAL2c.3928C>G (p.Pro1310Ala)
c.3826C>G (p.Pro1276Ala)
n.265C>G
c.1960-169C>G
c.400C>G (p.Pro134Ala)
c.3847C>G (p.Pro1283Ala)
c.3907C>G (p.Pro1303Ala)
c.3559C>G (p.Pro1187Ala)
c.3388C>G (p.Pro1130Ala)
c.3274C>G (p.Pro1092Ala)
c.2836C>G (p.Pro946Ala)
n.4104C>G
3g.47000027C>TCA352516390NBEAL2c.3928C>T (p.Pro1310Ser)
c.3826C>T (p.Pro1276Ser)
n.265C>T
c.1960-169C>T
c.400C>T (p.Pro134Ser)
c.3847C>T (p.Pro1283Ser)
c.3907C>T (p.Pro1303Ser)
c.3559C>T (p.Pro1187Ser)
c.3388C>T (p.Pro1130Ser)
c.3274C>T (p.Pro1092Ser)
c.2836C>T (p.Pro946Ser)
n.4104C>T
 gnomAD v4
3g.47000028C>ACA352516393NBEAL2c.3929C>A (p.Pro1310His)
c.3827C>A (p.Pro1276His)
n.266C>A
c.1960-168C>A
c.401C>A (p.Pro134His)
c.3848C>A (p.Pro1283His)
c.3908C>A (p.Pro1303His)
c.3560C>A (p.Pro1187His)
c.3389C>A (p.Pro1130His)
c.3275C>A (p.Pro1092His)
c.2837C>A (p.Pro946His)
n.4105C>A
3g.47000028C=CA1362362980NBEAL2c.3929C= (p.Pro1310=)
c.3827C= (p.Pro1276=)
n.266C=
c.1960-168C=
c.401C= (p.Pro134=)
c.3848C= (p.Pro1283=)
c.3908C= (p.Pro1303=)
c.3560C= (p.Pro1187=)
c.3389C= (p.Pro1130=)
c.3275C= (p.Pro1092=)
c.2837C= (p.Pro946=)
n.4105C=
3g.47000028C>GCA352516395NBEAL2c.3929C>G (p.Pro1310Arg)
c.3827C>G (p.Pro1276Arg)
n.266C>G
c.1960-168C>G
c.401C>G (p.Pro134Arg)
c.3848C>G (p.Pro1283Arg)
c.3908C>G (p.Pro1303Arg)
c.3560C>G (p.Pro1187Arg)
c.3389C>G (p.Pro1130Arg)
c.3275C>G (p.Pro1092Arg)
c.2837C>G (p.Pro946Arg)
n.4105C>G
3g.47000028C>TCA352516397NBEAL2c.3929C>T (p.Pro1310Leu)
c.3827C>T (p.Pro1276Leu)
n.266C>T
c.1960-168C>T
c.401C>T (p.Pro134Leu)
c.3848C>T (p.Pro1283Leu)
c.3908C>T (p.Pro1303Leu)
c.3560C>T (p.Pro1187Leu)
c.3389C>T (p.Pro1130Leu)
c.3275C>T (p.Pro1092Leu)
c.2837C>T (p.Pro946Leu)
n.4105C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000029T>ACA433598200NBEAL2c.3930T>A (p.Pro1310=)
c.3828T>A (p.Pro1276=)
n.267T>A
c.1960-167T>A
c.402T>A (p.Pro134=)
c.3849T>A (p.Pro1283=)
c.3909T>A (p.Pro1303=)
c.3561T>A (p.Pro1187=)
c.3390T>A (p.Pro1130=)
c.3276T>A (p.Pro1092=)
c.2838T>A (p.Pro946=)
n.4106T>A
 dbSNP gnomAD v3 gnomAD v4
3g.47000029T>CCA433598202NBEAL2c.3930T>C (p.Pro1310=)
c.3828T>C (p.Pro1276=)
n.267T>C
c.1960-167T>C
c.402T>C (p.Pro134=)
c.3849T>C (p.Pro1283=)
c.3909T>C (p.Pro1303=)
c.3561T>C (p.Pro1187=)
c.3390T>C (p.Pro1130=)
c.3276T>C (p.Pro1092=)
c.2838T>C (p.Pro946=)
n.4106T>C
 gnomAD v4
3g.47000029T>GCA433598201NBEAL2c.3930T>G (p.Pro1310=)
c.3828T>G (p.Pro1276=)
n.267T>G
c.1960-167T>G
c.402T>G (p.Pro134=)
c.3849T>G (p.Pro1283=)
c.3909T>G (p.Pro1303=)
c.3561T>G (p.Pro1187=)
c.3390T>G (p.Pro1130=)
c.3276T>G (p.Pro1092=)
c.2838T>G (p.Pro946=)
n.4106T>G
3g.47000029T=CA1362362981NBEAL2c.3930T= (p.Pro1310=)
c.3828T= (p.Pro1276=)
n.267T=
c.1960-167T=
c.402T= (p.Pro134=)
c.3849T= (p.Pro1283=)
c.3909T= (p.Pro1303=)
c.3561T= (p.Pro1187=)
c.3390T= (p.Pro1130=)
c.3276T= (p.Pro1092=)
c.2838T= (p.Pro946=)
n.4106T=
3g.47000030A=CA1362362982NBEAL2c.3931A= (p.Thr1311=)
c.3829A= (p.Thr1277=)
n.268A=
c.1960-166A=
c.403A= (p.Thr135=)
c.3850A= (p.Thr1284=)
c.3910A= (p.Thr1304=)
c.3562A= (p.Thr1188=)
c.3391A= (p.Thr1131=)
c.3277A= (p.Thr1093=)
c.2839A= (p.Thr947=)
n.4107A=
3g.47000030A>CCA352516400NBEAL2c.3931A>C (p.Thr1311Pro)
c.3829A>C (p.Thr1277Pro)
n.268A>C
c.1960-166A>C
c.403A>C (p.Thr135Pro)
c.3850A>C (p.Thr1284Pro)
c.3910A>C (p.Thr1304Pro)
c.3562A>C (p.Thr1188Pro)
c.3391A>C (p.Thr1131Pro)
c.3277A>C (p.Thr1093Pro)
c.2839A>C (p.Thr947Pro)
n.4107A>C
 gnomAD v3 gnomAD v4
3g.47000030A>GCA352516402NBEAL2c.3931A>G (p.Thr1311Ala)
c.3829A>G (p.Thr1277Ala)
n.268A>G
c.1960-166A>G
c.403A>G (p.Thr135Ala)
c.3850A>G (p.Thr1284Ala)
c.3910A>G (p.Thr1304Ala)
c.3562A>G (p.Thr1188Ala)
c.3391A>G (p.Thr1131Ala)
c.3277A>G (p.Thr1093Ala)
c.2839A>G (p.Thr947Ala)
n.4107A>G
3g.47000030A>TCA352516404NBEAL2c.3931A>T (p.Thr1311Ser)
c.3829A>T (p.Thr1277Ser)
n.268A>T
c.1960-166A>T
c.403A>T (p.Thr135Ser)
c.3850A>T (p.Thr1284Ser)
c.3910A>T (p.Thr1304Ser)
c.3562A>T (p.Thr1188Ser)
c.3391A>T (p.Thr1131Ser)
c.3277A>T (p.Thr1093Ser)
c.2839A>T (p.Thr947Ser)
n.4107A>T
3g.47000031C>ACA352516406NBEAL2c.3932C>A (p.Thr1311Asn)
c.3830C>A (p.Thr1277Asn)
n.269C>A
c.1960-165C>A
c.404C>A (p.Thr135Asn)
c.3851C>A (p.Thr1284Asn)
c.3911C>A (p.Thr1304Asn)
c.3563C>A (p.Thr1188Asn)
c.3392C>A (p.Thr1131Asn)
c.3278C>A (p.Thr1093Asn)
c.2840C>A (p.Thr947Asn)
n.4108C>A
3g.47000031C=CA1362362984NBEAL2c.3932C= (p.Thr1311=)
c.3830C= (p.Thr1277=)
n.269C=
c.1960-165C=
c.404C= (p.Thr135=)
c.3851C= (p.Thr1284=)
c.3911C= (p.Thr1304=)
c.3563C= (p.Thr1188=)
c.3392C= (p.Thr1131=)
c.3278C= (p.Thr1093=)
c.2840C= (p.Thr947=)
n.4108C=
3g.47000031C>GCA352516407NBEAL2c.3932C>G (p.Thr1311Ser)
c.3830C>G (p.Thr1277Ser)
n.269C>G
c.1960-165C>G
c.404C>G (p.Thr135Ser)
c.3851C>G (p.Thr1284Ser)
c.3911C>G (p.Thr1304Ser)
c.3563C>G (p.Thr1188Ser)
c.3392C>G (p.Thr1131Ser)
c.3278C>G (p.Thr1093Ser)
c.2840C>G (p.Thr947Ser)
n.4108C>G
3g.47000031C>TCA352516410NBEAL2c.3932C>T (p.Thr1311Ile)
c.3830C>T (p.Thr1277Ile)
n.269C>T
c.1960-165C>T
c.404C>T (p.Thr135Ile)
c.3851C>T (p.Thr1284Ile)
c.3911C>T (p.Thr1304Ile)
c.3563C>T (p.Thr1188Ile)
c.3392C>T (p.Thr1131Ile)
c.3278C>T (p.Thr1093Ile)
c.2840C>T (p.Thr947Ile)
n.4108C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000033_47000036dupCA1362362983NBEAL2c.3934_3937dup (p.Pro1313LeufsTer12)
c.3832_3835dup (p.Pro1279LeufsTer12)
n.271_274dup
c.1960-163_1960-160dup
c.406_409dup (p.Pro137LeufsTer12)
c.3853_3856dup (p.Pro1286LeufsTer12)
c.3913_3916dup (p.Pro1306LeufsTer12)
c.3565_3568dup (p.Pro1190LeufsTer12)
c.3394_3397dup (p.Pro1133LeufsTer12)
c.3280_3283dup (p.Pro1095LeufsTer12)
c.2842_2845dup (p.Pro949LeufsTer12)
n.4110_4113dup
 dbSNP
3g.47000032C>ACA2361113NBEAL2c.3933C>A (p.Thr1311=)
c.3831C>A (p.Thr1277=)
n.270C>A
c.1960-164C>A
c.405C>A (p.Thr135=)
c.3852C>A (p.Thr1284=)
c.3912C>A (p.Thr1304=)
c.3564C>A (p.Thr1188=)
c.3393C>A (p.Thr1131=)
c.3279C>A (p.Thr1093=)
c.2841C>A (p.Thr947=)
n.4109C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000032C=CA1362362985NBEAL2c.3933C= (p.Thr1311=)
c.3831C= (p.Thr1277=)
n.270C=
c.1960-164C=
c.405C= (p.Thr135=)
c.3852C= (p.Thr1284=)
c.3912C= (p.Thr1304=)
c.3564C= (p.Thr1188=)
c.3393C= (p.Thr1131=)
c.3279C= (p.Thr1093=)
c.2841C= (p.Thr947=)
n.4109C=
3g.47000032C>GCA433598203NBEAL2c.3933C>G (p.Thr1311=)
c.3831C>G (p.Thr1277=)
n.270C>G
c.1960-164C>G
c.405C>G (p.Thr135=)
c.3852C>G (p.Thr1284=)
c.3912C>G (p.Thr1304=)
c.3564C>G (p.Thr1188=)
c.3393C>G (p.Thr1131=)
c.3279C>G (p.Thr1093=)
c.2841C>G (p.Thr947=)
n.4109C>G
3g.47000032C>TCA433598204NBEAL2c.3933C>T (p.Thr1311=)
c.3831C>T (p.Thr1277=)
n.270C>T
c.1960-164C>T
c.405C>T (p.Thr135=)
c.3852C>T (p.Thr1284=)
c.3912C>T (p.Thr1304=)
c.3564C>T (p.Thr1188=)
c.3393C>T (p.Thr1131=)
c.3279C>T (p.Thr1093=)
c.2841C>T (p.Thr947=)
n.4109C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000033T>ACA352516414NBEAL2c.3934T>A (p.Ser1312Thr)
c.3832T>A (p.Ser1278Thr)
n.271T>A
c.1960-163T>A
c.406T>A (p.Ser136Thr)
c.3853T>A (p.Ser1285Thr)
c.3913T>A (p.Ser1305Thr)
c.3565T>A (p.Ser1189Thr)
c.3394T>A (p.Ser1132Thr)
c.3280T>A (p.Ser1094Thr)
c.2842T>A (p.Ser948Thr)
n.4110T>A
3g.47000033T>CCA352516419NBEAL2c.3934T>C (p.Ser1312Pro)
c.3832T>C (p.Ser1278Pro)
n.271T>C
c.1960-163T>C
c.406T>C (p.Ser136Pro)
c.3853T>C (p.Ser1285Pro)
c.3913T>C (p.Ser1305Pro)
c.3565T>C (p.Ser1189Pro)
c.3394T>C (p.Ser1132Pro)
c.3280T>C (p.Ser1094Pro)
c.2842T>C (p.Ser948Pro)
n.4110T>C
3g.47000033T>GCA352516416NBEAL2c.3934T>G (p.Ser1312Ala)
c.3832T>G (p.Ser1278Ala)
n.271T>G
c.1960-163T>G
c.406T>G (p.Ser136Ala)
c.3853T>G (p.Ser1285Ala)
c.3913T>G (p.Ser1305Ala)
c.3565T>G (p.Ser1189Ala)
c.3394T>G (p.Ser1132Ala)
c.3280T>G (p.Ser1094Ala)
c.2842T>G (p.Ser948Ala)
n.4110T>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000033T=CA1362362986NBEAL2c.3934T= (p.Ser1312=)
c.3832T= (p.Ser1278=)
n.271T=
c.1960-163T=
c.406T= (p.Ser136=)
c.3853T= (p.Ser1285=)
c.3913T= (p.Ser1305=)
c.3565T= (p.Ser1189=)
c.3394T= (p.Ser1132=)
c.3280T= (p.Ser1094=)
c.2842T= (p.Ser948=)
n.4110T=
3g.47000034C>ACA352516422NBEAL2c.3935C>A (p.Ser1312Tyr)
c.3833C>A (p.Ser1278Tyr)
n.272C>A
c.1960-162C>A
c.407C>A (p.Ser136Tyr)
c.3854C>A (p.Ser1285Tyr)
c.3914C>A (p.Ser1305Tyr)
c.3566C>A (p.Ser1189Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3281C>A (p.Ser1094Tyr)
c.2843C>A (p.Ser948Tyr)
n.4111C>A
3g.47000034C=CA1362362987NBEAL2c.3935C= (p.Ser1312=)
c.3833C= (p.Ser1278=)
n.272C=
c.1960-162C=
c.407C= (p.Ser136=)
c.3854C= (p.Ser1285=)
c.3914C= (p.Ser1305=)
c.3566C= (p.Ser1189=)
c.3395C= (p.Ser1132=)
c.3281C= (p.Ser1094=)
c.2843C= (p.Ser948=)
n.4111C=
3g.47000034C>GCA352516424NBEAL2c.3935C>G (p.Ser1312Cys)
c.3833C>G (p.Ser1278Cys)
n.272C>G
c.1960-162C>G
c.407C>G (p.Ser136Cys)
c.3854C>G (p.Ser1285Cys)
c.3914C>G (p.Ser1305Cys)
c.3566C>G (p.Ser1189Cys)
c.3395C>G (p.Ser1132Cys)
c.3281C>G (p.Ser1094Cys)
c.2843C>G (p.Ser948Cys)
n.4111C>G
3g.47000034C>TCA2361114NBEAL2c.3935C>T (p.Ser1312Phe)
c.3833C>T (p.Ser1278Phe)
n.272C>T
c.1960-162C>T
c.407C>T (p.Ser136Phe)
c.3854C>T (p.Ser1285Phe)
c.3914C>T (p.Ser1305Phe)
c.3566C>T (p.Ser1189Phe)
c.3395C>T (p.Ser1132Phe)
c.3281C>T (p.Ser1094Phe)
c.2843C>T (p.Ser948Phe)
n.4111C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.47000038dupCA1139535884NBEAL2c.3939dup (p.Lys1314GlnfsTer10)
c.3837dup (p.Lys1280GlnfsTer10)
n.276dup
c.1960-158dup
c.411dup (p.Lys138GlnfsTer10)
c.3858dup (p.Lys1287GlnfsTer10)
c.3918dup (p.Lys1307GlnfsTer10)
c.3570dup (p.Lys1191GlnfsTer10)
c.3399dup (p.Lys1134GlnfsTer10)
c.3285dup (p.Lys1096GlnfsTer10)
c.2847dup (p.Lys950GlnfsTer10)
n.4115dup
3g.47000035C>ACA433598205NBEAL2c.3936C>A (p.Ser1312=)
c.3834C>A (p.Ser1278=)
n.273C>A
c.1960-161C>A
c.408C>A (p.Ser136=)
c.3855C>A (p.Ser1285=)
c.3915C>A (p.Ser1305=)
c.3567C>A (p.Ser1189=)
c.3396C>A (p.Ser1132=)
c.3282C>A (p.Ser1094=)
c.2844C>A (p.Ser948=)
n.4112C>A
3g.47000035C>GCA433598206NBEAL2c.3936C>G (p.Ser1312=)
c.3834C>G (p.Ser1278=)
n.273C>G
c.1960-161C>G
c.408C>G (p.Ser136=)
c.3855C>G (p.Ser1285=)
c.3915C>G (p.Ser1305=)
c.3567C>G (p.Ser1189=)
c.3396C>G (p.Ser1132=)
c.3282C>G (p.Ser1094=)
c.2844C>G (p.Ser948=)
n.4112C>G
3g.47000035C>TCA433598207NBEAL2c.3936C>T (p.Ser1312=)
c.3834C>T (p.Ser1278=)
n.273C>T
c.1960-161C>T
c.408C>T (p.Ser136=)
c.3855C>T (p.Ser1285=)
c.3915C>T (p.Ser1305=)
c.3567C>T (p.Ser1189=)
c.3396C>T (p.Ser1132=)
c.3282C>T (p.Ser1094=)
c.2844C>T (p.Ser948=)
n.4112C>T
 COSMIC
3g.47000036C>ACA352516428NBEAL2c.3937C>A (p.Pro1313Thr)
c.3835C>A (p.Pro1279Thr)
n.274C>A
c.1960-160C>A
c.409C>A (p.Pro137Thr)
c.3856C>A (p.Pro1286Thr)
c.3916C>A (p.Pro1306Thr)
c.3568C>A (p.Pro1190Thr)
c.3397C>A (p.Pro1133Thr)
c.3283C>A (p.Pro1095Thr)
c.2845C>A (p.Pro949Thr)
n.4113C>A
 dbSNP gnomAD v2 gnomAD v4
3g.47000036C=CA1362362988NBEAL2c.3937C= (p.Pro1313=)
c.3835C= (p.Pro1279=)
n.274C=
c.1960-160C=
c.409C= (p.Pro137=)
c.3856C= (p.Pro1286=)
c.3916C= (p.Pro1306=)
c.3568C= (p.Pro1190=)
c.3397C= (p.Pro1133=)
c.3283C= (p.Pro1095=)
c.2845C= (p.Pro949=)
n.4113C=
3g.47000036C>GCA352516431NBEAL2c.3937C>G (p.Pro1313Ala)
c.3835C>G (p.Pro1279Ala)
n.274C>G
c.1960-160C>G
c.409C>G (p.Pro137Ala)
c.3856C>G (p.Pro1286Ala)
c.3916C>G (p.Pro1306Ala)
c.3568C>G (p.Pro1190Ala)
c.3397C>G (p.Pro1133Ala)
c.3283C>G (p.Pro1095Ala)
c.2845C>G (p.Pro949Ala)
n.4113C>G
3g.47000036C>TCA73817623NBEAL2c.3937C>T (p.Pro1313Ser)
c.3835C>T (p.Pro1279Ser)
n.274C>T
c.1960-160C>T
c.409C>T (p.Pro137Ser)
c.3856C>T (p.Pro1286Ser)
c.3916C>T (p.Pro1306Ser)
c.3568C>T (p.Pro1190Ser)
c.3397C>T (p.Pro1133Ser)
c.3283C>T (p.Pro1095Ser)
c.2845C>T (p.Pro949Ser)
n.4113C>T
 dbSNP
3g.47000037C>ACA352516435NBEAL2c.3938C>A (p.Pro1313His)
c.3836C>A (p.Pro1279His)
n.275C>A
c.1960-159C>A
c.410C>A (p.Pro137His)
c.3857C>A (p.Pro1286His)
c.3917C>A (p.Pro1306His)
c.3569C>A (p.Pro1190His)
c.3398C>A (p.Pro1133His)
c.3284C>A (p.Pro1095His)
c.2846C>A (p.Pro949His)
n.4114C>A
3g.47000037C=CA1362362989NBEAL2c.3938C= (p.Pro1313=)
c.3836C= (p.Pro1279=)
n.275C=
c.1960-159C=
c.410C= (p.Pro137=)
c.3857C= (p.Pro1286=)
c.3917C= (p.Pro1306=)
c.3569C= (p.Pro1190=)
c.3398C= (p.Pro1133=)
c.3284C= (p.Pro1095=)
c.2846C= (p.Pro949=)
n.4114C=
3g.47000037C>GCA2361115NBEAL2c.3938C>G (p.Pro1313Arg)
c.3836C>G (p.Pro1279Arg)
n.275C>G
c.1960-159C>G
c.410C>G (p.Pro137Arg)
c.3857C>G (p.Pro1286Arg)
c.3917C>G (p.Pro1306Arg)
c.3569C>G (p.Pro1190Arg)
c.3398C>G (p.Pro1133Arg)
c.3284C>G (p.Pro1095Arg)
c.2846C>G (p.Pro949Arg)
n.4114C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000037C>TCA352516439NBEAL2c.3938C>T (p.Pro1313Leu)
c.3836C>T (p.Pro1279Leu)
n.275C>T
c.1960-159C>T
c.410C>T (p.Pro137Leu)
c.3857C>T (p.Pro1286Leu)
c.3917C>T (p.Pro1306Leu)
c.3569C>T (p.Pro1190Leu)
c.3398C>T (p.Pro1133Leu)
c.3284C>T (p.Pro1095Leu)
c.2846C>T (p.Pro949Leu)
n.4114C>T
3g.47000038C>ACA433598208NBEAL2c.3939C>A (p.Pro1313=)
c.3837C>A (p.Pro1279=)
n.276C>A
c.1960-158C>A
c.411C>A (p.Pro137=)
c.3858C>A (p.Pro1286=)
c.3918C>A (p.Pro1306=)
c.3570C>A (p.Pro1190=)
c.3399C>A (p.Pro1133=)
c.3285C>A (p.Pro1095=)
c.2847C>A (p.Pro949=)
n.4115C>A
 dbSNP gnomAD v2
3g.47000038C=CA1362362990NBEAL2c.3939C= (p.Pro1313=)
c.3837C= (p.Pro1279=)
n.276C=
c.1960-158C=
c.411C= (p.Pro137=)
c.3858C= (p.Pro1286=)
c.3918C= (p.Pro1306=)
c.3570C= (p.Pro1190=)
c.3399C= (p.Pro1133=)
c.3285C= (p.Pro1095=)
c.2847C= (p.Pro949=)
n.4115C=
3g.47000038C>GCA433598209NBEAL2c.3939C>G (p.Pro1313=)
c.3837C>G (p.Pro1279=)
n.276C>G
c.1960-158C>G
c.411C>G (p.Pro137=)
c.3858C>G (p.Pro1286=)
c.3918C>G (p.Pro1306=)
c.3570C>G (p.Pro1190=)
c.3399C>G (p.Pro1133=)
c.3285C>G (p.Pro1095=)
c.2847C>G (p.Pro949=)
n.4115C>G
3g.47000038C>TCA433598210NBEAL2c.3939C>T (p.Pro1313=)
c.3837C>T (p.Pro1279=)
n.276C>T
c.1960-158C>T
c.411C>T (p.Pro137=)
c.3858C>T (p.Pro1286=)
c.3918C>T (p.Pro1306=)
c.3570C>T (p.Pro1190=)
c.3399C>T (p.Pro1133=)
c.3285C>T (p.Pro1095=)
c.2847C>T (p.Pro949=)
n.4115C>T
 gnomAD v4
3g.47000039A>CCA352516446NBEAL2c.3940A>C (p.Lys1314Gln)
c.3838A>C (p.Lys1280Gln)
n.277A>C
c.1960-157A>C
c.412A>C (p.Lys138Gln)
c.3859A>C (p.Lys1287Gln)
c.3919A>C (p.Lys1307Gln)
c.3571A>C (p.Lys1191Gln)
c.3400A>C (p.Lys1134Gln)
c.3286A>C (p.Lys1096Gln)
c.2848A>C (p.Lys950Gln)
n.4116A>C
 gnomAD v3 gnomAD v4
3g.47000039A>GCA352516444NBEAL2c.3940A>G (p.Lys1314Glu)
c.3838A>G (p.Lys1280Glu)
n.277A>G
c.1960-157A>G
c.412A>G (p.Lys138Glu)
c.3859A>G (p.Lys1287Glu)
c.3919A>G (p.Lys1307Glu)
c.3571A>G (p.Lys1191Glu)
c.3400A>G (p.Lys1134Glu)
c.3286A>G (p.Lys1096Glu)
c.2848A>G (p.Lys950Glu)
n.4116A>G
 gnomAD v4
3g.47000039A>TCA352516442NBEAL2c.3940A>T (p.Lys1314Ter)
c.3838A>T (p.Lys1280Ter)
n.277A>T
c.1960-157A>T
c.412A>T (p.Lys138Ter)
c.3859A>T (p.Lys1287Ter)
c.3919A>T (p.Lys1307Ter)
c.3571A>T (p.Lys1191Ter)
c.3400A>T (p.Lys1134Ter)
c.3286A>T (p.Lys1096Ter)
c.2848A>T (p.Lys950Ter)
n.4116A>T
3g.47000040A=CA1362362991NBEAL2c.3941A= (p.Lys1314=)
c.3839A= (p.Lys1280=)
n.278A=
c.1960-156A=
c.413A= (p.Lys138=)
c.3860A= (p.Lys1287=)
c.3920A= (p.Lys1307=)
c.3572A= (p.Lys1191=)
c.3401A= (p.Lys1134=)
c.3287A= (p.Lys1096=)
c.2849A= (p.Lys950=)
n.4117A=
3g.47000040A>CCA352516449NBEAL2c.3941A>C (p.Lys1314Thr)
c.3839A>C (p.Lys1280Thr)
n.278A>C
c.1960-156A>C
c.413A>C (p.Lys138Thr)
c.3860A>C (p.Lys1287Thr)
c.3920A>C (p.Lys1307Thr)
c.3572A>C (p.Lys1191Thr)
c.3401A>C (p.Lys1134Thr)
c.3287A>C (p.Lys1096Thr)
c.2849A>C (p.Lys950Thr)
n.4117A>C
3g.47000040A>GCA352516450NBEAL2c.3941A>G (p.Lys1314Arg)
c.3839A>G (p.Lys1280Arg)
n.278A>G
c.1960-156A>G
c.413A>G (p.Lys138Arg)
c.3860A>G (p.Lys1287Arg)
c.3920A>G (p.Lys1307Arg)
c.3572A>G (p.Lys1191Arg)
c.3401A>G (p.Lys1134Arg)
c.3287A>G (p.Lys1096Arg)
c.2849A>G (p.Lys950Arg)
n.4117A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000040A>TCA352516453NBEAL2c.3941A>T (p.Lys1314Met)
c.3839A>T (p.Lys1280Met)
n.278A>T
c.1960-156A>T
c.413A>T (p.Lys138Met)
c.3860A>T (p.Lys1287Met)
c.3920A>T (p.Lys1307Met)
c.3572A>T (p.Lys1191Met)
c.3401A>T (p.Lys1134Met)
c.3287A>T (p.Lys1096Met)
c.2849A>T (p.Lys950Met)
n.4117A>T
3g.47000041G>ACA73817646NBEAL2c.3942G>A (p.Lys1314=)
c.3840G>A (p.Lys1280=)
n.279G>A
c.1960-155G>A
c.414G>A (p.Lys138=)
c.3861G>A (p.Lys1287=)
c.3921G>A (p.Lys1307=)
c.3573G>A (p.Lys1191=)
c.3402G>A (p.Lys1134=)
c.3288G>A (p.Lys1096=)
c.2850G>A (p.Lys950=)
n.4118G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000041G>CCA352516455NBEAL2c.3942G>C (p.Lys1314Asn)
c.3840G>C (p.Lys1280Asn)
n.279G>C
c.1960-155G>C
c.414G>C (p.Lys138Asn)
c.3861G>C (p.Lys1287Asn)
c.3921G>C (p.Lys1307Asn)
c.3573G>C (p.Lys1191Asn)
c.3402G>C (p.Lys1134Asn)
c.3288G>C (p.Lys1096Asn)
c.2850G>C (p.Lys950Asn)
n.4118G>C
3g.47000041G=CA1362362992NBEAL2c.3942G= (p.Lys1314=)
c.3840G= (p.Lys1280=)
n.279G=
c.1960-155G=
c.414G= (p.Lys138=)
c.3861G= (p.Lys1287=)
c.3921G= (p.Lys1307=)
c.3573G= (p.Lys1191=)
c.3402G= (p.Lys1134=)
c.3288G= (p.Lys1096=)
c.2850G= (p.Lys950=)
n.4118G=
3g.47000041G>TCA352516458NBEAL2c.3942G>T (p.Lys1314Asn)
c.3840G>T (p.Lys1280Asn)
n.279G>T
c.1960-155G>T
c.414G>T (p.Lys138Asn)
c.3861G>T (p.Lys1287Asn)
c.3921G>T (p.Lys1307Asn)
c.3573G>T (p.Lys1191Asn)
c.3402G>T (p.Lys1134Asn)
c.3288G>T (p.Lys1096Asn)
c.2850G>T (p.Lys950Asn)
n.4118G>T
3g.47000042C>ACA352516462NBEAL2c.3943C>A (p.Pro1315Thr)
c.3841C>A (p.Pro1281Thr)
n.280C>A
c.1960-154C>A
c.415C>A (p.Pro139Thr)
c.3862C>A (p.Pro1288Thr)
c.3922C>A (p.Pro1308Thr)
c.3574C>A (p.Pro1192Thr)
c.3403C>A (p.Pro1135Thr)
c.3289C>A (p.Pro1097Thr)
c.2851C>A (p.Pro951Thr)
n.4119C>A
 gnomAD v4
3g.47000042C>GCA352516463NBEAL2c.3943C>G (p.Pro1315Ala)
c.3841C>G (p.Pro1281Ala)
n.280C>G
c.1960-154C>G
c.415C>G (p.Pro139Ala)
c.3862C>G (p.Pro1288Ala)
c.3922C>G (p.Pro1308Ala)
c.3574C>G (p.Pro1192Ala)
c.3403C>G (p.Pro1135Ala)
c.3289C>G (p.Pro1097Ala)
c.2851C>G (p.Pro951Ala)
n.4119C>G
3g.47000042C>TCA352516465NBEAL2c.3943C>T (p.Pro1315Ser)
c.3841C>T (p.Pro1281Ser)
n.280C>T
c.1960-154C>T
c.415C>T (p.Pro139Ser)
c.3862C>T (p.Pro1288Ser)
c.3922C>T (p.Pro1308Ser)
c.3574C>T (p.Pro1192Ser)
c.3403C>T (p.Pro1135Ser)
c.3289C>T (p.Pro1097Ser)
c.2851C>T (p.Pro951Ser)
n.4119C>T
3g.47000043C>ACA352516468NBEAL2c.3944C>A (p.Pro1315Gln)
c.3842C>A (p.Pro1281Gln)
n.281C>A
c.1960-153C>A
c.416C>A (p.Pro139Gln)
c.3863C>A (p.Pro1288Gln)
c.3923C>A (p.Pro1308Gln)
c.3575C>A (p.Pro1192Gln)
c.3404C>A (p.Pro1135Gln)
c.3290C>A (p.Pro1097Gln)
c.2852C>A (p.Pro951Gln)
n.4120C>A
3g.47000043C=CA1362362993NBEAL2c.3944C= (p.Pro1315=)
c.3842C= (p.Pro1281=)
n.281C=
c.1960-153C=
c.416C= (p.Pro139=)
c.3863C= (p.Pro1288=)
c.3923C= (p.Pro1308=)
c.3575C= (p.Pro1192=)
c.3404C= (p.Pro1135=)
c.3290C= (p.Pro1097=)
c.2852C= (p.Pro951=)
n.4120C=
3g.47000043C>GCA352516471NBEAL2c.3944C>G (p.Pro1315Arg)
c.3842C>G (p.Pro1281Arg)
n.281C>G
c.1960-153C>G
c.416C>G (p.Pro139Arg)
c.3863C>G (p.Pro1288Arg)
c.3923C>G (p.Pro1308Arg)
c.3575C>G (p.Pro1192Arg)
c.3404C>G (p.Pro1135Arg)
c.3290C>G (p.Pro1097Arg)
c.2852C>G (p.Pro951Arg)
n.4120C>G
 dbSNP
3g.47000043C>TCA352516474NBEAL2c.3944C>T (p.Pro1315Leu)
c.3842C>T (p.Pro1281Leu)
n.281C>T
c.1960-153C>T
c.416C>T (p.Pro139Leu)
c.3863C>T (p.Pro1288Leu)
c.3923C>T (p.Pro1308Leu)
c.3575C>T (p.Pro1192Leu)
c.3404C>T (p.Pro1135Leu)
c.3290C>T (p.Pro1097Leu)
c.2852C>T (p.Pro951Leu)
n.4120C>T
3g.47000044A=CA1362362994NBEAL2c.3945A= (p.Pro1315=)
c.3843A= (p.Pro1281=)
n.282A=
c.1960-152A=
c.417A= (p.Pro139=)
c.3864A= (p.Pro1288=)
c.3924A= (p.Pro1308=)
c.3576A= (p.Pro1192=)
c.3405A= (p.Pro1135=)
c.3291A= (p.Pro1097=)
c.2853A= (p.Pro951=)
n.4121A=
3g.47000044A>CCA433598212NBEAL2c.3945A>C (p.Pro1315=)
c.3843A>C (p.Pro1281=)
n.282A>C
c.1960-152A>C
c.417A>C (p.Pro139=)
c.3864A>C (p.Pro1288=)
c.3924A>C (p.Pro1308=)
c.3576A>C (p.Pro1192=)
c.3405A>C (p.Pro1135=)
c.3291A>C (p.Pro1097=)
c.2853A>C (p.Pro951=)
n.4121A>C
 gnomAD v3 gnomAD v4
3g.47000044A>GCA2361116NBEAL2c.3945A>G (p.Pro1315=)
c.3843A>G (p.Pro1281=)
n.282A>G
c.1960-152A>G
c.417A>G (p.Pro139=)
c.3864A>G (p.Pro1288=)
c.3924A>G (p.Pro1308=)
c.3576A>G (p.Pro1192=)
c.3405A>G (p.Pro1135=)
c.3291A>G (p.Pro1097=)
c.2853A>G (p.Pro951=)
n.4121A>G
 dbSNP ExAC gnomAD v2
3g.47000044A>TCA433598211NBEAL2c.3945A>T (p.Pro1315=)
c.3843A>T (p.Pro1281=)
n.282A>T
c.1960-152A>T
c.417A>T (p.Pro139=)
c.3864A>T (p.Pro1288=)
c.3924A>T (p.Pro1308=)
c.3576A>T (p.Pro1192=)
c.3405A>T (p.Pro1135=)
c.3291A>T (p.Pro1097=)
c.2853A>T (p.Pro951=)
n.4121A>T
3g.47000045G>ACA352516482NBEAL2c.3946G>A (p.Ala1316Thr)
c.3844G>A (p.Ala1282Thr)
n.283G>A
c.1960-151G>A
c.418G>A (p.Ala140Thr)
c.3865G>A (p.Ala1289Thr)
c.3925G>A (p.Ala1309Thr)
c.3577G>A (p.Ala1193Thr)
c.3406G>A (p.Ala1136Thr)
c.3292G>A (p.Ala1098Thr)
c.2854G>A (p.Ala952Thr)
n.4122G>A
3g.47000045G>CCA2361117NBEAL2c.3946G>C (p.Ala1316Pro)
c.3844G>C (p.Ala1282Pro)
n.283G>C
c.1960-151G>C
c.418G>C (p.Ala140Pro)
c.3865G>C (p.Ala1289Pro)
c.3925G>C (p.Ala1309Pro)
c.3577G>C (p.Ala1193Pro)
c.3406G>C (p.Ala1136Pro)
c.3292G>C (p.Ala1098Pro)
c.2854G>C (p.Ala952Pro)
n.4122G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000045G=CA1362362995NBEAL2c.3946G= (p.Ala1316=)
c.3844G= (p.Ala1282=)
n.283G=
c.1960-151G=
c.418G= (p.Ala140=)
c.3865G= (p.Ala1289=)
c.3925G= (p.Ala1309=)
c.3577G= (p.Ala1193=)
c.3406G= (p.Ala1136=)
c.3292G= (p.Ala1098=)
c.2854G= (p.Ala952=)
n.4122G=
3g.47000045G>TCA352516480NBEAL2c.3946G>T (p.Ala1316Ser)
c.3844G>T (p.Ala1282Ser)
n.283G>T
c.1960-151G>T
c.418G>T (p.Ala140Ser)
c.3865G>T (p.Ala1289Ser)
c.3925G>T (p.Ala1309Ser)
c.3577G>T (p.Ala1193Ser)
c.3406G>T (p.Ala1136Ser)
c.3292G>T (p.Ala1098Ser)
c.2854G>T (p.Ala952Ser)
n.4122G>T
3g.47000046C>ACA352516484NBEAL2c.3947C>A (p.Ala1316Asp)
c.3845C>A (p.Ala1282Asp)
n.284C>A
c.1960-150C>A
c.419C>A (p.Ala140Asp)
c.3866C>A (p.Ala1289Asp)
c.3926C>A (p.Ala1309Asp)
c.3578C>A (p.Ala1193Asp)
c.3407C>A (p.Ala1136Asp)
c.3293C>A (p.Ala1098Asp)
c.2855C>A (p.Ala952Asp)
n.4123C>A
 dbSNP gnomAD v3 gnomAD v4
3g.47000046C=CA1362362996NBEAL2c.3947C= (p.Ala1316=)
c.3845C= (p.Ala1282=)
n.284C=
c.1960-150C=
c.419C= (p.Ala140=)
c.3866C= (p.Ala1289=)
c.3926C= (p.Ala1309=)
c.3578C= (p.Ala1193=)
c.3407C= (p.Ala1136=)
c.3293C= (p.Ala1098=)
c.2855C= (p.Ala952=)
n.4123C=
3g.47000046C>GCA352516487NBEAL2c.3947C>G (p.Ala1316Gly)
c.3845C>G (p.Ala1282Gly)
n.284C>G
c.1960-150C>G
c.419C>G (p.Ala140Gly)
c.3866C>G (p.Ala1289Gly)
c.3926C>G (p.Ala1309Gly)
c.3578C>G (p.Ala1193Gly)
c.3407C>G (p.Ala1136Gly)
c.3293C>G (p.Ala1098Gly)
c.2855C>G (p.Ala952Gly)
n.4123C>G
3g.47000046C>TCA73817678NBEAL2c.3947C>T (p.Ala1316Val)
c.3845C>T (p.Ala1282Val)
n.284C>T
c.1960-150C>T
c.419C>T (p.Ala140Val)
c.3866C>T (p.Ala1289Val)
c.3926C>T (p.Ala1309Val)
c.3578C>T (p.Ala1193Val)
c.3407C>T (p.Ala1136Val)
c.3293C>T (p.Ala1098Val)
c.2855C>T (p.Ala952Val)
n.4123C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000047C>ACA433598213NBEAL2c.3948C>A (p.Ala1316=)
c.3846C>A (p.Ala1282=)
n.285C>A
c.1960-149C>A
c.420C>A (p.Ala140=)
c.3867C>A (p.Ala1289=)
c.3927C>A (p.Ala1309=)
c.3579C>A (p.Ala1193=)
c.3408C>A (p.Ala1136=)
c.3294C>A (p.Ala1098=)
c.2856C>A (p.Ala952=)
n.4124C>A
3g.47000047C=CA1362362997NBEAL2c.3948C= (p.Ala1316=)
c.3846C= (p.Ala1282=)
n.285C=
c.1960-149C=
c.420C= (p.Ala140=)
c.3867C= (p.Ala1289=)
c.3927C= (p.Ala1309=)
c.3579C= (p.Ala1193=)
c.3408C= (p.Ala1136=)
c.3294C= (p.Ala1098=)
c.2856C= (p.Ala952=)
n.4124C=
3g.47000047C>GCA433598214NBEAL2c.3948C>G (p.Ala1316=)
c.3846C>G (p.Ala1282=)
n.285C>G
c.1960-149C>G
c.420C>G (p.Ala140=)
c.3867C>G (p.Ala1289=)
c.3927C>G (p.Ala1309=)
c.3579C>G (p.Ala1193=)
c.3408C>G (p.Ala1136=)
c.3294C>G (p.Ala1098=)
c.2856C>G (p.Ala952=)
n.4124C>G
 dbSNP gnomAD v3 gnomAD v4
3g.47000047C>TCA433598215NBEAL2c.3948C>T (p.Ala1316=)
c.3846C>T (p.Ala1282=)
n.285C>T
c.1960-149C>T
c.420C>T (p.Ala140=)
c.3867C>T (p.Ala1289=)
c.3927C>T (p.Ala1309=)
c.3579C>T (p.Ala1193=)
c.3408C>T (p.Ala1136=)
c.3294C>T (p.Ala1098=)
c.2856C>T (p.Ala952=)
n.4124C>T
3g.47000048C>ACA352516491NBEAL2c.3949C>A (p.Pro1317Thr)
c.3847C>A (p.Pro1283Thr)
n.286C>A
c.1960-148C>A
c.421C>A (p.Pro141Thr)
c.3868C>A (p.Pro1290Thr)
c.3928C>A (p.Pro1310Thr)
c.3580C>A (p.Pro1194Thr)
c.3409C>A (p.Pro1137Thr)
c.3295C>A (p.Pro1099Thr)
c.2857C>A (p.Pro953Thr)
n.4125C>A
3g.47000048C>GCA352516493NBEAL2c.3949C>G (p.Pro1317Ala)
c.3847C>G (p.Pro1283Ala)
n.286C>G
c.1960-148C>G
c.421C>G (p.Pro141Ala)
c.3868C>G (p.Pro1290Ala)
c.3928C>G (p.Pro1310Ala)
c.3580C>G (p.Pro1194Ala)
c.3409C>G (p.Pro1137Ala)
c.3295C>G (p.Pro1099Ala)
c.2857C>G (p.Pro953Ala)
n.4125C>G
3g.47000048C>TCA352516495NBEAL2c.3949C>T (p.Pro1317Ser)
c.3847C>T (p.Pro1283Ser)
n.286C>T
c.1960-148C>T
c.421C>T (p.Pro141Ser)
c.3868C>T (p.Pro1290Ser)
c.3928C>T (p.Pro1310Ser)
c.3580C>T (p.Pro1194Ser)
c.3409C>T (p.Pro1137Ser)
c.3295C>T (p.Pro1099Ser)
c.2857C>T (p.Pro953Ser)
n.4125C>T
3g.47000049C>ACA352516497NBEAL2c.3950C>A (p.Pro1317Gln)
c.3848C>A (p.Pro1283Gln)
n.287C>A
c.1960-147C>A
c.422C>A (p.Pro141Gln)
c.3869C>A (p.Pro1290Gln)
c.3929C>A (p.Pro1310Gln)
c.3581C>A (p.Pro1194Gln)
c.3410C>A (p.Pro1137Gln)
c.3296C>A (p.Pro1099Gln)
c.2858C>A (p.Pro953Gln)
n.4126C>A
3g.47000049C>GCA352516499NBEAL2c.3950C>G (p.Pro1317Arg)
c.3848C>G (p.Pro1283Arg)
n.287C>G
c.1960-147C>G
c.422C>G (p.Pro141Arg)
c.3869C>G (p.Pro1290Arg)
c.3929C>G (p.Pro1310Arg)
c.3581C>G (p.Pro1194Arg)
c.3410C>G (p.Pro1137Arg)
c.3296C>G (p.Pro1099Arg)
c.2858C>G (p.Pro953Arg)
n.4126C>G
3g.47000049C>TCA352516501NBEAL2c.3950C>T (p.Pro1317Leu)
c.3848C>T (p.Pro1283Leu)
n.287C>T
c.1960-147C>T
c.422C>T (p.Pro141Leu)
c.3869C>T (p.Pro1290Leu)
c.3929C>T (p.Pro1310Leu)
c.3581C>T (p.Pro1194Leu)
c.3410C>T (p.Pro1137Leu)
c.3296C>T (p.Pro1099Leu)
c.2858C>T (p.Pro953Leu)
n.4126C>T
 gnomAD v4
3g.47000050A=CA1362362998NBEAL2c.3951A= (p.Pro1317=)
c.3849A= (p.Pro1283=)
n.288A=
c.1960-146A=
c.423A= (p.Pro141=)
c.3870A= (p.Pro1290=)
c.3930A= (p.Pro1310=)
c.3582A= (p.Pro1194=)
c.3411A= (p.Pro1137=)
c.3297A= (p.Pro1099=)
c.2859A= (p.Pro953=)
n.4127A=
3g.47000050A>CCA433598216NBEAL2c.3951A>C (p.Pro1317=)
c.3849A>C (p.Pro1283=)
n.288A>C
c.1960-146A>C
c.423A>C (p.Pro141=)
c.3870A>C (p.Pro1290=)
c.3930A>C (p.Pro1310=)
c.3582A>C (p.Pro1194=)
c.3411A>C (p.Pro1137=)
c.3297A>C (p.Pro1099=)
c.2859A>C (p.Pro953=)
n.4127A>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000050A>GCA433598217NBEAL2c.3951A>G (p.Pro1317=)
c.3849A>G (p.Pro1283=)
n.288A>G
c.1960-146A>G
c.423A>G (p.Pro141=)
c.3870A>G (p.Pro1290=)
c.3930A>G (p.Pro1310=)
c.3582A>G (p.Pro1194=)
c.3411A>G (p.Pro1137=)
c.3297A>G (p.Pro1099=)
c.2859A>G (p.Pro953=)
n.4127A>G
3g.47000050A>TCA433598218NBEAL2c.3951A>T (p.Pro1317=)
c.3849A>T (p.Pro1283=)
n.288A>T
c.1960-146A>T
c.423A>T (p.Pro141=)
c.3870A>T (p.Pro1290=)
c.3930A>T (p.Pro1310=)
c.3582A>T (p.Pro1194=)
c.3411A>T (p.Pro1137=)
c.3297A>T (p.Pro1099=)
c.2859A>T (p.Pro953=)
n.4127A>T
3g.47000051C>ACA352516503NBEAL2c.3952C>A (p.Pro1318Thr)
c.3850C>A (p.Pro1284Thr)
n.289C>A
c.1960-145C>A
c.424C>A (p.Pro142Thr)
c.3871C>A (p.Pro1291Thr)
c.3931C>A (p.Pro1311Thr)
c.3583C>A (p.Pro1195Thr)
c.3412C>A (p.Pro1138Thr)
c.3298C>A (p.Pro1100Thr)
c.2860C>A (p.Pro954Thr)
n.4128C>A
 gnomAD v4
3g.47000051C>GCA352516505NBEAL2c.3952C>G (p.Pro1318Ala)
c.3850C>G (p.Pro1284Ala)
n.289C>G
c.1960-145C>G
c.424C>G (p.Pro142Ala)
c.3871C>G (p.Pro1291Ala)
c.3931C>G (p.Pro1311Ala)
c.3583C>G (p.Pro1195Ala)
c.3412C>G (p.Pro1138Ala)
c.3298C>G (p.Pro1100Ala)
c.2860C>G (p.Pro954Ala)
n.4128C>G
3g.47000051C>TCA352516507NBEAL2c.3952C>T (p.Pro1318Ser)
c.3850C>T (p.Pro1284Ser)
n.289C>T
c.1960-145C>T
c.424C>T (p.Pro142Ser)
c.3871C>T (p.Pro1291Ser)
c.3931C>T (p.Pro1311Ser)
c.3583C>T (p.Pro1195Ser)
c.3412C>T (p.Pro1138Ser)
c.3298C>T (p.Pro1100Ser)
c.2860C>T (p.Pro954Ser)
n.4128C>T
3g.47000052C>ACA352516511NBEAL2c.3953C>A (p.Pro1318His)
c.3851C>A (p.Pro1284His)
n.290C>A
c.1960-144C>A
c.425C>A (p.Pro142His)
c.3872C>A (p.Pro1291His)
c.3932C>A (p.Pro1311His)
c.3584C>A (p.Pro1195His)
c.3413C>A (p.Pro1138His)
c.3299C>A (p.Pro1100His)
c.2861C>A (p.Pro954His)
n.4129C>A
3g.47000052C>GCA352516512NBEAL2c.3953C>G (p.Pro1318Arg)
c.3851C>G (p.Pro1284Arg)
n.290C>G
c.1960-144C>G
c.425C>G (p.Pro142Arg)
c.3872C>G (p.Pro1291Arg)
c.3932C>G (p.Pro1311Arg)
c.3584C>G (p.Pro1195Arg)
c.3413C>G (p.Pro1138Arg)
c.3299C>G (p.Pro1100Arg)
c.2861C>G (p.Pro954Arg)
n.4129C>G
3g.47000052C>TCA352516509NBEAL2c.3953C>T (p.Pro1318Leu)
c.3851C>T (p.Pro1284Leu)
n.290C>T
c.1960-144C>T
c.425C>T (p.Pro142Leu)
c.3872C>T (p.Pro1291Leu)
c.3932C>T (p.Pro1311Leu)
c.3584C>T (p.Pro1195Leu)
c.3413C>T (p.Pro1138Leu)
c.3299C>T (p.Pro1100Leu)
c.2861C>T (p.Pro954Leu)
n.4129C>T
3g.47000053C>ACA433598220NBEAL2c.3954C>A (p.Pro1318=)
c.3852C>A (p.Pro1284=)
n.291C>A
c.1960-143C>A
c.426C>A (p.Pro142=)
c.3873C>A (p.Pro1291=)
c.3933C>A (p.Pro1311=)
c.3585C>A (p.Pro1195=)
c.3414C>A (p.Pro1138=)
c.3300C>A (p.Pro1100=)
c.2862C>A (p.Pro954=)
n.4130C>A
3g.47000053C=CA1362362999NBEAL2c.3954C= (p.Pro1318=)
c.3852C= (p.Pro1284=)
n.291C=
c.1960-143C=
c.426C= (p.Pro142=)
c.3873C= (p.Pro1291=)
c.3933C= (p.Pro1311=)
c.3585C= (p.Pro1195=)
c.3414C= (p.Pro1138=)
c.3300C= (p.Pro1100=)
c.2862C= (p.Pro954=)
n.4130C=
3g.47000053C>GCA2361118NBEAL2c.3954C>G (p.Pro1318=)
c.3852C>G (p.Pro1284=)
n.291C>G
c.1960-143C>G
c.426C>G (p.Pro142=)
c.3873C>G (p.Pro1291=)
c.3933C>G (p.Pro1311=)
c.3585C>G (p.Pro1195=)
c.3414C>G (p.Pro1138=)
c.3300C>G (p.Pro1100=)
c.2862C>G (p.Pro954=)
n.4130C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000053C>TCA433598222NBEAL2c.3954C>T (p.Pro1318=)
c.3852C>T (p.Pro1284=)
n.291C>T
c.1960-143C>T
c.426C>T (p.Pro142=)
c.3873C>T (p.Pro1291=)
c.3933C>T (p.Pro1311=)
c.3585C>T (p.Pro1195=)
c.3414C>T (p.Pro1138=)
c.3300C>T (p.Pro1100=)
c.2862C>T (p.Pro954=)
n.4130C>T
 dbSNP gnomAD v4
3g.47000054A=CA1362363000NBEAL2c.3955A= (p.Lys1319=)
c.3853A= (p.Lys1285=)
n.292A=
c.1960-142A=
c.427A= (p.Lys143=)
c.3874A= (p.Lys1292=)
c.3934A= (p.Lys1312=)
c.3586A= (p.Lys1196=)
c.3415A= (p.Lys1139=)
c.3301A= (p.Lys1101=)
c.2863A= (p.Lys955=)
n.4131A=
3g.47000054A>CCA352516516NBEAL2c.3955A>C (p.Lys1319Gln)
c.3853A>C (p.Lys1285Gln)
n.292A>C
c.1960-142A>C
c.427A>C (p.Lys143Gln)
c.3874A>C (p.Lys1292Gln)
c.3934A>C (p.Lys1312Gln)
c.3586A>C (p.Lys1196Gln)
c.3415A>C (p.Lys1139Gln)
c.3301A>C (p.Lys1101Gln)
c.2863A>C (p.Lys955Gln)
n.4131A>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000054A>GCA352516518NBEAL2c.3955A>G (p.Lys1319Glu)
c.3853A>G (p.Lys1285Glu)
n.292A>G
c.1960-142A>G
c.427A>G (p.Lys143Glu)
c.3874A>G (p.Lys1292Glu)
c.3934A>G (p.Lys1312Glu)
c.3586A>G (p.Lys1196Glu)
c.3415A>G (p.Lys1139Glu)
c.3301A>G (p.Lys1101Glu)
c.2863A>G (p.Lys955Glu)
n.4131A>G
3g.47000054A>TCA352516520NBEAL2c.3955A>T (p.Lys1319Ter)
c.3853A>T (p.Lys1285Ter)
n.292A>T
c.1960-142A>T
c.427A>T (p.Lys143Ter)
c.3874A>T (p.Lys1292Ter)
c.3934A>T (p.Lys1312Ter)
c.3586A>T (p.Lys1196Ter)
c.3415A>T (p.Lys1139Ter)
c.3301A>T (p.Lys1101Ter)
c.2863A>T (p.Lys955Ter)
n.4131A>T
3g.47000055A>CCA352516522NBEAL2c.3956A>C (p.Lys1319Thr)
c.3854A>C (p.Lys1285Thr)
n.293A>C
c.1960-141A>C
c.428A>C (p.Lys143Thr)
c.3875A>C (p.Lys1292Thr)
c.3935A>C (p.Lys1312Thr)
c.3587A>C (p.Lys1196Thr)
c.3416A>C (p.Lys1139Thr)
c.3302A>C (p.Lys1101Thr)
c.2864A>C (p.Lys955Thr)
n.4132A>C
3g.47000055A>GCA352516524NBEAL2c.3956A>G (p.Lys1319Arg)
c.3854A>G (p.Lys1285Arg)
n.293A>G
c.1960-141A>G
c.428A>G (p.Lys143Arg)
c.3875A>G (p.Lys1292Arg)
c.3935A>G (p.Lys1312Arg)
c.3587A>G (p.Lys1196Arg)
c.3416A>G (p.Lys1139Arg)
c.3302A>G (p.Lys1101Arg)
c.2864A>G (p.Lys955Arg)
n.4132A>G
3g.47000055A>TCA352516526NBEAL2c.3956A>T (p.Lys1319Met)
c.3854A>T (p.Lys1285Met)
n.293A>T
c.1960-141A>T
c.428A>T (p.Lys143Met)
c.3875A>T (p.Lys1292Met)
c.3935A>T (p.Lys1312Met)
c.3587A>T (p.Lys1196Met)
c.3416A>T (p.Lys1139Met)
c.3302A>T (p.Lys1101Met)
c.2864A>T (p.Lys955Met)
n.4132A>T
3g.47000056G>ACA433598224NBEAL2c.3957G>A (p.Lys1319=)
c.3855G>A (p.Lys1285=)
n.294G>A
c.1960-140G>A
c.429G>A (p.Lys143=)
c.3876G>A (p.Lys1292=)
c.3936G>A (p.Lys1312=)
c.3588G>A (p.Lys1196=)
c.3417G>A (p.Lys1139=)
c.3303G>A (p.Lys1101=)
c.2865G>A (p.Lys955=)
n.4133G>A
 COSMIC
3g.47000056G>CCA352516529NBEAL2c.3957G>C (p.Lys1319Asn)
c.3855G>C (p.Lys1285Asn)
n.294G>C
c.1960-140G>C
c.429G>C (p.Lys143Asn)
c.3876G>C (p.Lys1292Asn)
c.3936G>C (p.Lys1312Asn)
c.3588G>C (p.Lys1196Asn)
c.3417G>C (p.Lys1139Asn)
c.3303G>C (p.Lys1101Asn)
c.2865G>C (p.Lys955Asn)
n.4133G>C
3g.47000056G>TCA352516530NBEAL2c.3957G>T (p.Lys1319Asn)
c.3855G>T (p.Lys1285Asn)
n.294G>T
c.1960-140G>T
c.429G>T (p.Lys143Asn)
c.3876G>T (p.Lys1292Asn)
c.3936G>T (p.Lys1312Asn)
c.3588G>T (p.Lys1196Asn)
c.3417G>T (p.Lys1139Asn)
c.3303G>T (p.Lys1101Asn)
c.2865G>T (p.Lys955Asn)
n.4133G>T
3g.47000057C>ACA352516532NBEAL2c.3958C>A (p.Pro1320Thr)
c.3856C>A (p.Pro1286Thr)
n.295C>A
c.1960-139C>A
c.430C>A (p.Pro144Thr)
c.3877C>A (p.Pro1293Thr)
c.3937C>A (p.Pro1313Thr)
c.3589C>A (p.Pro1197Thr)
c.3418C>A (p.Pro1140Thr)
c.3304C>A (p.Pro1102Thr)
c.2866C>A (p.Pro956Thr)
n.4134C>A
3g.47000057C>GCA352516534NBEAL2c.3958C>G (p.Pro1320Ala)
c.3856C>G (p.Pro1286Ala)
n.295C>G
c.1960-139C>G
c.430C>G (p.Pro144Ala)
c.3877C>G (p.Pro1293Ala)
c.3937C>G (p.Pro1313Ala)
c.3589C>G (p.Pro1197Ala)
c.3418C>G (p.Pro1140Ala)
c.3304C>G (p.Pro1102Ala)
c.2866C>G (p.Pro956Ala)
n.4134C>G
3g.47000057C>TCA352516535NBEAL2c.3958C>T (p.Pro1320Ser)
c.3856C>T (p.Pro1286Ser)
n.295C>T
c.1960-139C>T
c.430C>T (p.Pro144Ser)
c.3877C>T (p.Pro1293Ser)
c.3937C>T (p.Pro1313Ser)
c.3589C>T (p.Pro1197Ser)
c.3418C>T (p.Pro1140Ser)
c.3304C>T (p.Pro1102Ser)
c.2866C>T (p.Pro956Ser)
n.4134C>T
3g.47000058C>ACA352516536NBEAL2c.3959C>A (p.Pro1320Gln)
c.3857C>A (p.Pro1286Gln)
n.296C>A
c.1960-138C>A
c.431C>A (p.Pro144Gln)
c.3878C>A (p.Pro1293Gln)
c.3938C>A (p.Pro1313Gln)
c.3590C>A (p.Pro1197Gln)
c.3419C>A (p.Pro1140Gln)
c.3305C>A (p.Pro1102Gln)
c.2867C>A (p.Pro956Gln)
n.4135C>A
 gnomAD v4
3g.47000058C=CA1362363001NBEAL2c.3959C= (p.Pro1320=)
c.3857C= (p.Pro1286=)
n.296C=
c.1960-138C=
c.431C= (p.Pro144=)
c.3878C= (p.Pro1293=)
c.3938C= (p.Pro1313=)
c.3590C= (p.Pro1197=)
c.3419C= (p.Pro1140=)
c.3305C= (p.Pro1102=)
c.2867C= (p.Pro956=)
n.4135C=
3g.47000058C>GCA352516538NBEAL2c.3959C>G (p.Pro1320Arg)
c.3857C>G (p.Pro1286Arg)
n.296C>G
c.1960-138C>G
c.431C>G (p.Pro144Arg)
c.3878C>G (p.Pro1293Arg)
c.3938C>G (p.Pro1313Arg)
c.3590C>G (p.Pro1197Arg)
c.3419C>G (p.Pro1140Arg)
c.3305C>G (p.Pro1102Arg)
c.2867C>G (p.Pro956Arg)
n.4135C>G
3g.47000058C>TCA352516539NBEAL2c.3959C>T (p.Pro1320Leu)
c.3857C>T (p.Pro1286Leu)
n.296C>T
c.1960-138C>T
c.431C>T (p.Pro144Leu)
c.3878C>T (p.Pro1293Leu)
c.3938C>T (p.Pro1313Leu)
c.3590C>T (p.Pro1197Leu)
c.3419C>T (p.Pro1140Leu)
c.3305C>T (p.Pro1102Leu)
c.2867C>T (p.Pro956Leu)
n.4135C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47000059A>CCA433598228NBEAL2c.3960A>C (p.Pro1320=)
c.3858A>C (p.Pro1286=)
n.297A>C
c.1960-137A>C
c.432A>C (p.Pro144=)
c.3879A>C (p.Pro1293=)
c.3939A>C (p.Pro1313=)
c.3591A>C (p.Pro1197=)
c.3420A>C (p.Pro1140=)
c.3306A>C (p.Pro1102=)
c.2868A>C (p.Pro956=)
n.4136A>C
3g.47000059A>GCA433598230NBEAL2c.3960A>G (p.Pro1320=)
c.3858A>G (p.Pro1286=)
n.297A>G
c.1960-137A>G
c.432A>G (p.Pro144=)
c.3879A>G (p.Pro1293=)
c.3939A>G (p.Pro1313=)
c.3591A>G (p.Pro1197=)
c.3420A>G (p.Pro1140=)
c.3306A>G (p.Pro1102=)
c.2868A>G (p.Pro956=)
n.4136A>G
3g.47000059A>TCA433598232NBEAL2c.3960A>T (p.Pro1320=)
c.3858A>T (p.Pro1286=)
n.297A>T
c.1960-137A>T
c.432A>T (p.Pro144=)
c.3879A>T (p.Pro1293=)
c.3939A>T (p.Pro1313=)
c.3591A>T (p.Pro1197=)
c.3420A>T (p.Pro1140=)
c.3306A>T (p.Pro1102=)
c.2868A>T (p.Pro956=)
n.4136A>T

Number of alleles fetched