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.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
3g.47000060C>ACA352516542NBEAL2c.3961C>A (p.Pro1321Thr)
c.3859C>A (p.Pro1287Thr)
n.298C>A
c.1960-136C>A
c.433C>A (p.Pro145Thr)
c.3880C>A (p.Pro1294Thr)
c.3940C>A (p.Pro1314Thr)
c.3592C>A (p.Pro1198Thr)
c.3421C>A (p.Pro1141Thr)
c.3307C>A (p.Pro1103Thr)
c.2869C>A (p.Pro957Thr)
n.4137C>A
3g.47000060C>GCA352516546NBEAL2c.3961C>G (p.Pro1321Ala)
c.3859C>G (p.Pro1287Ala)
n.298C>G
c.1960-136C>G
c.433C>G (p.Pro145Ala)
c.3880C>G (p.Pro1294Ala)
c.3940C>G (p.Pro1314Ala)
c.3592C>G (p.Pro1198Ala)
c.3421C>G (p.Pro1141Ala)
c.3307C>G (p.Pro1103Ala)
c.2869C>G (p.Pro957Ala)
n.4137C>G
3g.47000060C>TCA352516544NBEAL2c.3961C>T (p.Pro1321Ser)
c.3859C>T (p.Pro1287Ser)
n.298C>T
c.1960-136C>T
c.433C>T (p.Pro145Ser)
c.3880C>T (p.Pro1294Ser)
c.3940C>T (p.Pro1314Ser)
c.3592C>T (p.Pro1198Ser)
c.3421C>T (p.Pro1141Ser)
c.3307C>T (p.Pro1103Ser)
c.2869C>T (p.Pro957Ser)
n.4137C>T
 dbSNP
3g.47000061C>ACA352516549NBEAL2c.3962C>A (p.Pro1321His)
c.3860C>A (p.Pro1287His)
n.299C>A
c.1960-135C>A
c.434C>A (p.Pro145His)
c.3881C>A (p.Pro1294His)
c.3941C>A (p.Pro1314His)
c.3593C>A (p.Pro1198His)
c.3422C>A (p.Pro1141His)
c.3308C>A (p.Pro1103His)
c.2870C>A (p.Pro957His)
n.4138C>A
3g.47000061C>GCA352516551NBEAL2c.3962C>G (p.Pro1321Arg)
c.3860C>G (p.Pro1287Arg)
n.299C>G
c.1960-135C>G
c.434C>G (p.Pro145Arg)
c.3881C>G (p.Pro1294Arg)
c.3941C>G (p.Pro1314Arg)
c.3593C>G (p.Pro1198Arg)
c.3422C>G (p.Pro1141Arg)
c.3308C>G (p.Pro1103Arg)
c.2870C>G (p.Pro957Arg)
n.4138C>G
3g.47000061C>TCA352516552NBEAL2c.3962C>T (p.Pro1321Leu)
c.3860C>T (p.Pro1287Leu)
n.299C>T
c.1960-135C>T
c.434C>T (p.Pro145Leu)
c.3881C>T (p.Pro1294Leu)
c.3941C>T (p.Pro1314Leu)
c.3593C>T (p.Pro1198Leu)
c.3422C>T (p.Pro1141Leu)
c.3308C>T (p.Pro1103Leu)
c.2870C>T (p.Pro957Leu)
n.4138C>T
 COSMIC
3g.47000062C>ACA433598234NBEAL2c.3963C>A (p.Pro1321=)
c.3861C>A (p.Pro1287=)
n.300C>A
c.1960-134C>A
c.435C>A (p.Pro145=)
c.3882C>A (p.Pro1294=)
c.3942C>A (p.Pro1314=)
c.3594C>A (p.Pro1198=)
c.3423C>A (p.Pro1141=)
c.3309C>A (p.Pro1103=)
c.2871C>A (p.Pro957=)
n.4139C>A
3g.47000062C>GCA433598235NBEAL2c.3963C>G (p.Pro1321=)
c.3861C>G (p.Pro1287=)
n.300C>G
c.1960-134C>G
c.435C>G (p.Pro145=)
c.3882C>G (p.Pro1294=)
c.3942C>G (p.Pro1314=)
c.3594C>G (p.Pro1198=)
c.3423C>G (p.Pro1141=)
c.3309C>G (p.Pro1103=)
c.2871C>G (p.Pro957=)
n.4139C>G
3g.47000062C>TCA433598236NBEAL2c.3963C>T (p.Pro1321=)
c.3861C>T (p.Pro1287=)
n.300C>T
c.1960-134C>T
c.435C>T (p.Pro145=)
c.3882C>T (p.Pro1294=)
c.3942C>T (p.Pro1314=)
c.3594C>T (p.Pro1198=)
c.3423C>T (p.Pro1141=)
c.3309C>T (p.Pro1103=)
c.2871C>T (p.Pro957=)
n.4139C>T
3g.47000063A=CA1362363002NBEAL2c.3964A= (p.Thr1322=)
c.3862A= (p.Thr1288=)
n.301A=
c.1960-133A=
c.436A= (p.Thr146=)
c.3883A= (p.Thr1295=)
c.3943A= (p.Thr1315=)
c.3595A= (p.Thr1199=)
c.3424A= (p.Thr1142=)
c.3310A= (p.Thr1104=)
c.2872A= (p.Thr958=)
n.4140A=
3g.47000063A>CCA352516555NBEAL2c.3964A>C (p.Thr1322Pro)
c.3862A>C (p.Thr1288Pro)
n.301A>C
c.1960-133A>C
c.436A>C (p.Thr146Pro)
c.3883A>C (p.Thr1295Pro)
c.3943A>C (p.Thr1315Pro)
c.3595A>C (p.Thr1199Pro)
c.3424A>C (p.Thr1142Pro)
c.3310A>C (p.Thr1104Pro)
c.2872A>C (p.Thr958Pro)
n.4140A>C
3g.47000063A>GCA352516558NBEAL2c.3964A>G (p.Thr1322Ala)
c.3862A>G (p.Thr1288Ala)
n.301A>G
c.1960-133A>G
c.436A>G (p.Thr146Ala)
c.3883A>G (p.Thr1295Ala)
c.3943A>G (p.Thr1315Ala)
c.3595A>G (p.Thr1199Ala)
c.3424A>G (p.Thr1142Ala)
c.3310A>G (p.Thr1104Ala)
c.2872A>G (p.Thr958Ala)
n.4140A>G
 dbSNP gnomAD v3 gnomAD v4
3g.47000063A>TCA352516560NBEAL2c.3964A>T (p.Thr1322Ser)
c.3862A>T (p.Thr1288Ser)
n.301A>T
c.1960-133A>T
c.436A>T (p.Thr146Ser)
c.3883A>T (p.Thr1295Ser)
c.3943A>T (p.Thr1315Ser)
c.3595A>T (p.Thr1199Ser)
c.3424A>T (p.Thr1142Ser)
c.3310A>T (p.Thr1104Ser)
c.2872A>T (p.Thr958Ser)
n.4140A>T
3g.47000064C>ACA352516562NBEAL2c.3965C>A (p.Thr1322Asn)
c.3863C>A (p.Thr1288Asn)
n.302C>A
c.1960-132C>A
c.437C>A (p.Thr146Asn)
c.3884C>A (p.Thr1295Asn)
c.3944C>A (p.Thr1315Asn)
c.3596C>A (p.Thr1199Asn)
c.3425C>A (p.Thr1142Asn)
c.3311C>A (p.Thr1104Asn)
c.2873C>A (p.Thr958Asn)
n.4141C>A
3g.47000064C>GCA352516564NBEAL2c.3965C>G (p.Thr1322Ser)
c.3863C>G (p.Thr1288Ser)
n.302C>G
c.1960-132C>G
c.437C>G (p.Thr146Ser)
c.3884C>G (p.Thr1295Ser)
c.3944C>G (p.Thr1315Ser)
c.3596C>G (p.Thr1199Ser)
c.3425C>G (p.Thr1142Ser)
c.3311C>G (p.Thr1104Ser)
c.2873C>G (p.Thr958Ser)
n.4141C>G
3g.47000064C>TCA352516567NBEAL2c.3965C>T (p.Thr1322Ile)
c.3863C>T (p.Thr1288Ile)
n.302C>T
c.1960-132C>T
c.437C>T (p.Thr146Ile)
c.3884C>T (p.Thr1295Ile)
c.3944C>T (p.Thr1315Ile)
c.3596C>T (p.Thr1199Ile)
c.3425C>T (p.Thr1142Ile)
c.3311C>T (p.Thr1104Ile)
c.2873C>T (p.Thr958Ile)
n.4141C>T
3g.47000065T>ACA433598238NBEAL2c.3966T>A (p.Thr1322=)
c.3864T>A (p.Thr1288=)
n.303T>A
c.1960-131T>A
c.438T>A (p.Thr146=)
c.3885T>A (p.Thr1295=)
c.3945T>A (p.Thr1315=)
c.3597T>A (p.Thr1199=)
c.3426T>A (p.Thr1142=)
c.3312T>A (p.Thr1104=)
c.2874T>A (p.Thr958=)
n.4142T>A
3g.47000065T>CCA433598239NBEAL2c.3966T>C (p.Thr1322=)
c.3864T>C (p.Thr1288=)
n.303T>C
c.1960-131T>C
c.438T>C (p.Thr146=)
c.3885T>C (p.Thr1295=)
c.3945T>C (p.Thr1315=)
c.3597T>C (p.Thr1199=)
c.3426T>C (p.Thr1142=)
c.3312T>C (p.Thr1104=)
c.2874T>C (p.Thr958=)
n.4142T>C
3g.47000065T>GCA433598237NBEAL2c.3966T>G (p.Thr1322=)
c.3864T>G (p.Thr1288=)
n.303T>G
c.1960-131T>G
c.438T>G (p.Thr146=)
c.3885T>G (p.Thr1295=)
c.3945T>G (p.Thr1315=)
c.3597T>G (p.Thr1199=)
c.3426T>G (p.Thr1142=)
c.3312T>G (p.Thr1104=)
c.2874T>G (p.Thr958=)
n.4142T>G
3g.47000066G>ACA352516570NBEAL2c.3967G>A (p.Glu1323Lys)
c.3865G>A (p.Glu1289Lys)
n.304G>A
c.1960-130G>A
c.439G>A (p.Glu147Lys)
c.3886G>A (p.Glu1296Lys)
c.3946G>A (p.Glu1316Lys)
c.3598G>A (p.Glu1200Lys)
c.3427G>A (p.Glu1143Lys)
c.3313G>A (p.Glu1105Lys)
c.2875G>A (p.Glu959Lys)
n.4143G>A
3g.47000066G>CCA352516572NBEAL2c.3967G>C (p.Glu1323Gln)
c.3865G>C (p.Glu1289Gln)
n.304G>C
c.1960-130G>C
c.439G>C (p.Glu147Gln)
c.3886G>C (p.Glu1296Gln)
c.3946G>C (p.Glu1316Gln)
c.3598G>C (p.Glu1200Gln)
c.3427G>C (p.Glu1143Gln)
c.3313G>C (p.Glu1105Gln)
c.2875G>C (p.Glu959Gln)
n.4143G>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000066G=CA1362363003NBEAL2c.3967G= (p.Glu1323=)
c.3865G= (p.Glu1289=)
n.304G=
c.1960-130G=
c.439G= (p.Glu147=)
c.3886G= (p.Glu1296=)
c.3946G= (p.Glu1316=)
c.3598G= (p.Glu1200=)
c.3427G= (p.Glu1143=)
c.3313G= (p.Glu1105=)
c.2875G= (p.Glu959=)
n.4143G=
3g.47000066G>TCA352516574NBEAL2c.3967G>T (p.Glu1323Ter)
c.3865G>T (p.Glu1289Ter)
n.304G>T
c.1960-130G>T
c.439G>T (p.Glu147Ter)
c.3886G>T (p.Glu1296Ter)
c.3946G>T (p.Glu1316Ter)
c.3598G>T (p.Glu1200Ter)
c.3427G>T (p.Glu1143Ter)
c.3313G>T (p.Glu1105Ter)
c.2875G>T (p.Glu959Ter)
n.4143G>T
3g.47000067A>CCA352516577NBEAL2c.3968A>C (p.Glu1323Ala)
c.3866A>C (p.Glu1289Ala)
n.305A>C
c.1960-129A>C
c.440A>C (p.Glu147Ala)
c.3887A>C (p.Glu1296Ala)
c.3947A>C (p.Glu1316Ala)
c.3599A>C (p.Glu1200Ala)
c.3428A>C (p.Glu1143Ala)
c.3314A>C (p.Glu1105Ala)
c.2876A>C (p.Glu959Ala)
n.4144A>C
3g.47000067A>GCA352516581NBEAL2c.3968A>G (p.Glu1323Gly)
c.3866A>G (p.Glu1289Gly)
n.305A>G
c.1960-129A>G
c.440A>G (p.Glu147Gly)
c.3887A>G (p.Glu1296Gly)
c.3947A>G (p.Glu1316Gly)
c.3599A>G (p.Glu1200Gly)
c.3428A>G (p.Glu1143Gly)
c.3314A>G (p.Glu1105Gly)
c.2876A>G (p.Glu959Gly)
n.4144A>G
3g.47000067A>TCA352516579NBEAL2c.3968A>T (p.Glu1323Val)
c.3866A>T (p.Glu1289Val)
n.305A>T
c.1960-129A>T
c.440A>T (p.Glu147Val)
c.3887A>T (p.Glu1296Val)
c.3947A>T (p.Glu1316Val)
c.3599A>T (p.Glu1200Val)
c.3428A>T (p.Glu1143Val)
c.3314A>T (p.Glu1105Val)
c.2876A>T (p.Glu959Val)
n.4144A>T
3g.47000068G>ACA433598244NBEAL2c.3969G>A (p.Glu1323=)
c.3867G>A (p.Glu1289=)
n.306G>A
c.1960-128G>A
c.441G>A (p.Glu147=)
c.3888G>A (p.Glu1296=)
c.3948G>A (p.Glu1316=)
c.3600G>A (p.Glu1200=)
c.3429G>A (p.Glu1143=)
c.3315G>A (p.Glu1105=)
c.2877G>A (p.Glu959=)
n.4145G>A
3g.47000068G>CCA352516584NBEAL2c.3969G>C (p.Glu1323Asp)
c.3867G>C (p.Glu1289Asp)
n.306G>C
c.1960-128G>C
c.441G>C (p.Glu147Asp)
c.3888G>C (p.Glu1296Asp)
c.3948G>C (p.Glu1316Asp)
c.3600G>C (p.Glu1200Asp)
c.3429G>C (p.Glu1143Asp)
c.3315G>C (p.Glu1105Asp)
c.2877G>C (p.Glu959Asp)
n.4145G>C
3g.47000068G>TCA352516586NBEAL2c.3969G>T (p.Glu1323Asp)
c.3867G>T (p.Glu1289Asp)
n.306G>T
c.1960-128G>T
c.441G>T (p.Glu147Asp)
c.3888G>T (p.Glu1296Asp)
c.3948G>T (p.Glu1316Asp)
c.3600G>T (p.Glu1200Asp)
c.3429G>T (p.Glu1143Asp)
c.3315G>T (p.Glu1105Asp)
c.2877G>T (p.Glu959Asp)
n.4145G>T
3g.47000069T>ACA352516588NBEAL2c.3970T>A (p.Ser1324Thr)
c.3868T>A (p.Ser1290Thr)
n.307T>A
c.1960-127T>A
c.442T>A (p.Ser148Thr)
c.3889T>A (p.Ser1297Thr)
c.3949T>A (p.Ser1317Thr)
c.3601T>A (p.Ser1201Thr)
c.3430T>A (p.Ser1144Thr)
c.3316T>A (p.Ser1106Thr)
c.2878T>A (p.Ser960Thr)
n.4146T>A
3g.47000069T>CCA352516590NBEAL2c.3970T>C (p.Ser1324Pro)
c.3868T>C (p.Ser1290Pro)
n.307T>C
c.1960-127T>C
c.442T>C (p.Ser148Pro)
c.3889T>C (p.Ser1297Pro)
c.3949T>C (p.Ser1317Pro)
c.3601T>C (p.Ser1201Pro)
c.3430T>C (p.Ser1144Pro)
c.3316T>C (p.Ser1106Pro)
c.2878T>C (p.Ser960Pro)
n.4146T>C
3g.47000069T>GCA352516592NBEAL2c.3970T>G (p.Ser1324Ala)
c.3868T>G (p.Ser1290Ala)
n.307T>G
c.1960-127T>G
c.442T>G (p.Ser148Ala)
c.3889T>G (p.Ser1297Ala)
c.3949T>G (p.Ser1317Ala)
c.3601T>G (p.Ser1201Ala)
c.3430T>G (p.Ser1144Ala)
c.3316T>G (p.Ser1106Ala)
c.2878T>G (p.Ser960Ala)
n.4146T>G
3g.47000070C>ACA352516597NBEAL2c.3971C>A (p.Ser1324Ter)
c.3869C>A (p.Ser1290Ter)
n.308C>A
c.1960-126C>A
c.443C>A (p.Ser148Ter)
c.3890C>A (p.Ser1297Ter)
c.3950C>A (p.Ser1317Ter)
c.3602C>A (p.Ser1201Ter)
c.3431C>A (p.Ser1144Ter)
c.3317C>A (p.Ser1106Ter)
c.2879C>A (p.Ser960Ter)
n.4147C>A
3g.47000070C=CA1362363004NBEAL2c.3971C= (p.Ser1324=)
c.3869C= (p.Ser1290=)
n.308C=
c.1960-126C=
c.443C= (p.Ser148=)
c.3890C= (p.Ser1297=)
c.3950C= (p.Ser1317=)
c.3602C= (p.Ser1201=)
c.3431C= (p.Ser1144=)
c.3317C= (p.Ser1106=)
c.2879C= (p.Ser960=)
n.4147C=
3g.47000070C>GCA352516595NBEAL2c.3971C>G (p.Ser1324Ter)
c.3869C>G (p.Ser1290Ter)
n.308C>G
c.1960-126C>G
c.443C>G (p.Ser148Ter)
c.3890C>G (p.Ser1297Ter)
c.3950C>G (p.Ser1317Ter)
c.3602C>G (p.Ser1201Ter)
c.3431C>G (p.Ser1144Ter)
c.3317C>G (p.Ser1106Ter)
c.2879C>G (p.Ser960Ter)
n.4147C>G
3g.47000070C>TCA73817679NBEAL2c.3971C>T (p.Ser1324Leu)
c.3869C>T (p.Ser1290Leu)
n.308C>T
c.1960-126C>T
c.443C>T (p.Ser148Leu)
c.3890C>T (p.Ser1297Leu)
c.3950C>T (p.Ser1317Leu)
c.3602C>T (p.Ser1201Leu)
c.3431C>T (p.Ser1144Leu)
c.3317C>T (p.Ser1106Leu)
c.2879C>T (p.Ser960Leu)
n.4147C>T
 dbSNP
3g.47000071A>CCA433598247NBEAL2c.3972A>C (p.Ser1324=)
c.3870A>C (p.Ser1290=)
n.309A>C
c.1960-125A>C
c.444A>C (p.Ser148=)
c.3891A>C (p.Ser1297=)
c.3951A>C (p.Ser1317=)
c.3603A>C (p.Ser1201=)
c.3432A>C (p.Ser1144=)
c.3318A>C (p.Ser1106=)
c.2880A>C (p.Ser960=)
n.4148A>C
3g.47000071A>GCA433598251NBEAL2c.3972A>G (p.Ser1324=)
c.3870A>G (p.Ser1290=)
n.309A>G
c.1960-125A>G
c.444A>G (p.Ser148=)
c.3891A>G (p.Ser1297=)
c.3951A>G (p.Ser1317=)
c.3603A>G (p.Ser1201=)
c.3432A>G (p.Ser1144=)
c.3318A>G (p.Ser1106=)
c.2880A>G (p.Ser960=)
n.4148A>G
3g.47000071A>TCA433598249NBEAL2c.3972A>T (p.Ser1324=)
c.3870A>T (p.Ser1290=)
n.309A>T
c.1960-125A>T
c.444A>T (p.Ser148=)
c.3891A>T (p.Ser1297=)
c.3951A>T (p.Ser1317=)
c.3603A>T (p.Ser1201=)
c.3432A>T (p.Ser1144=)
c.3318A>T (p.Ser1106=)
c.2880A>T (p.Ser960=)
n.4148A>T
3g.47000072C>ACA352516599NBEAL2c.3973C>A (p.Pro1325Thr)
c.3871C>A (p.Pro1291Thr)
n.310C>A
c.1960-124C>A
c.445C>A (p.Pro149Thr)
c.3892C>A (p.Pro1298Thr)
c.3952C>A (p.Pro1318Thr)
c.3604C>A (p.Pro1202Thr)
c.3433C>A (p.Pro1145Thr)
c.3319C>A (p.Pro1107Thr)
c.2881C>A (p.Pro961Thr)
n.4149C>A
3g.47000072C=CA1362363005NBEAL2c.3973C= (p.Pro1325=)
c.3871C= (p.Pro1291=)
n.310C=
c.1960-124C=
c.445C= (p.Pro149=)
c.3892C= (p.Pro1298=)
c.3952C= (p.Pro1318=)
c.3604C= (p.Pro1202=)
c.3433C= (p.Pro1145=)
c.3319C= (p.Pro1107=)
c.2881C= (p.Pro961=)
n.4149C=
3g.47000072C>GCA352516601NBEAL2c.3973C>G (p.Pro1325Ala)
c.3871C>G (p.Pro1291Ala)
n.310C>G
c.1960-124C>G
c.445C>G (p.Pro149Ala)
c.3892C>G (p.Pro1298Ala)
c.3952C>G (p.Pro1318Ala)
c.3604C>G (p.Pro1202Ala)
c.3433C>G (p.Pro1145Ala)
c.3319C>G (p.Pro1107Ala)
c.2881C>G (p.Pro961Ala)
n.4149C>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000072C>TCA352516603NBEAL2c.3973C>T (p.Pro1325Ser)
c.3871C>T (p.Pro1291Ser)
n.310C>T
c.1960-124C>T
c.445C>T (p.Pro149Ser)
c.3892C>T (p.Pro1298Ser)
c.3952C>T (p.Pro1318Ser)
c.3604C>T (p.Pro1202Ser)
c.3433C>T (p.Pro1145Ser)
c.3319C>T (p.Pro1107Ser)
c.2881C>T (p.Pro961Ser)
n.4149C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000072_47000075delinsCCTGCA1362363006NBEAL2c.3973_3976delinsCCTG (p.Pro1325=)
c.3871_3874delinsCCTG (p.Pro1291=)
n.310_313delinsCCTG
c.1960-124_1960-121delinsCCTG
c.445_448delinsCCTG (p.Pro149=)
c.3892_3895delinsCCTG (p.Pro1298=)
c.3952_3955delinsCCTG (p.Pro1318=)
c.3604_3607delinsCCTG (p.Pro1202=)
c.3433_3436delinsCCTG (p.Pro1145=)
c.3319_3322delinsCCTG (p.Pro1107=)
c.2881_2884delinsCCTG (p.Pro961=)
n.4149_4152delinsCCTG
3g.47000073C>ACA352516605NBEAL2c.3974C>A (p.Pro1325His)
c.3872C>A (p.Pro1291His)
n.311C>A
c.1960-123C>A
c.446C>A (p.Pro149His)
c.3893C>A (p.Pro1298His)
c.3953C>A (p.Pro1318His)
c.3605C>A (p.Pro1202His)
c.3434C>A (p.Pro1145His)
c.3320C>A (p.Pro1107His)
c.2882C>A (p.Pro961His)
n.4150C>A
3g.47000073C>GCA352516607NBEAL2c.3974C>G (p.Pro1325Arg)
c.3872C>G (p.Pro1291Arg)
n.311C>G
c.1960-123C>G
c.446C>G (p.Pro149Arg)
c.3893C>G (p.Pro1298Arg)
c.3953C>G (p.Pro1318Arg)
c.3605C>G (p.Pro1202Arg)
c.3434C>G (p.Pro1145Arg)
c.3320C>G (p.Pro1107Arg)
c.2882C>G (p.Pro961Arg)
n.4150C>G
3g.47000073C>TCA352516610NBEAL2c.3974C>T (p.Pro1325Leu)
c.3872C>T (p.Pro1291Leu)
n.311C>T
c.1960-123C>T
c.446C>T (p.Pro149Leu)
c.3893C>T (p.Pro1298Leu)
c.3953C>T (p.Pro1318Leu)
c.3605C>T (p.Pro1202Leu)
c.3434C>T (p.Pro1145Leu)
c.3320C>T (p.Pro1107Leu)
c.2882C>T (p.Pro961Leu)
n.4150C>T
 gnomAD v4
3g.47000076_47000078delCA1047549676NBEAL2c.3977_3979del (p.Ala1326del)
c.3875_3877del (p.Ala1292del)
n.314_316del
c.1960-120_1960-118del
c.449_451del (p.Ala150del)
c.3896_3898del (p.Ala1299del)
c.3956_3958del (p.Ala1319del)
c.3608_3610del (p.Ala1203del)
c.3437_3439del (p.Ala1146del)
c.3323_3325del (p.Ala1108del)
c.2885_2887del (p.Ala962del)
n.4153_4155del
 dbSNP gnomAD v3 gnomAD v4
3g.47000074T>ACA433598254NBEAL2c.3975T>A (p.Pro1325=)
c.3873T>A (p.Pro1291=)
n.312T>A
c.1960-122T>A
c.447T>A (p.Pro149=)
c.3894T>A (p.Pro1298=)
c.3954T>A (p.Pro1318=)
c.3606T>A (p.Pro1202=)
c.3435T>A (p.Pro1145=)
c.3321T>A (p.Pro1107=)
c.2883T>A (p.Pro961=)
n.4151T>A
 gnomAD v4
3g.47000074T>CCA433598256NBEAL2c.3975T>C (p.Pro1325=)
c.3873T>C (p.Pro1291=)
n.312T>C
c.1960-122T>C
c.447T>C (p.Pro149=)
c.3894T>C (p.Pro1298=)
c.3954T>C (p.Pro1318=)
c.3606T>C (p.Pro1202=)
c.3435T>C (p.Pro1145=)
c.3321T>C (p.Pro1107=)
c.2883T>C (p.Pro961=)
n.4151T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000074T>GCA433598258NBEAL2c.3975T>G (p.Pro1325=)
c.3873T>G (p.Pro1291=)
n.312T>G
c.1960-122T>G
c.447T>G (p.Pro149=)
c.3894T>G (p.Pro1298=)
c.3954T>G (p.Pro1318=)
c.3606T>G (p.Pro1202=)
c.3435T>G (p.Pro1145=)
c.3321T>G (p.Pro1107=)
c.2883T>G (p.Pro961=)
n.4151T>G
3g.47000074T=CA1362363007NBEAL2c.3975T= (p.Pro1325=)
c.3873T= (p.Pro1291=)
n.312T=
c.1960-122T=
c.447T= (p.Pro149=)
c.3894T= (p.Pro1298=)
c.3954T= (p.Pro1318=)
c.3606T= (p.Pro1202=)
c.3435T= (p.Pro1145=)
c.3321T= (p.Pro1107=)
c.2883T= (p.Pro961=)
n.4151T=
3g.47000075G>ACA352516613NBEAL2c.3976G>A (p.Ala1326Thr)
c.3874G>A (p.Ala1292Thr)
n.313G>A
c.1960-121G>A
c.448G>A (p.Ala150Thr)
c.3895G>A (p.Ala1299Thr)
c.3955G>A (p.Ala1319Thr)
c.3607G>A (p.Ala1203Thr)
c.3436G>A (p.Ala1146Thr)
c.3322G>A (p.Ala1108Thr)
c.2884G>A (p.Ala962Thr)
n.4152G>A
3g.47000075G>CCA352516617NBEAL2c.3976G>C (p.Ala1326Pro)
c.3874G>C (p.Ala1292Pro)
n.313G>C
c.1960-121G>C
c.448G>C (p.Ala150Pro)
c.3895G>C (p.Ala1299Pro)
c.3955G>C (p.Ala1319Pro)
c.3607G>C (p.Ala1203Pro)
c.3436G>C (p.Ala1146Pro)
c.3322G>C (p.Ala1108Pro)
c.2884G>C (p.Ala962Pro)
n.4152G>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000075G=CA1362363008NBEAL2c.3976G= (p.Ala1326=)
c.3874G= (p.Ala1292=)
n.313G=
c.1960-121G=
c.448G= (p.Ala150=)
c.3895G= (p.Ala1299=)
c.3955G= (p.Ala1319=)
c.3607G= (p.Ala1203=)
c.3436G= (p.Ala1146=)
c.3322G= (p.Ala1108=)
c.2884G= (p.Ala962=)
n.4152G=
3g.47000075G>TCA352516615NBEAL2c.3976G>T (p.Ala1326Ser)
c.3874G>T (p.Ala1292Ser)
n.313G>T
c.1960-121G>T
c.448G>T (p.Ala150Ser)
c.3895G>T (p.Ala1299Ser)
c.3955G>T (p.Ala1319Ser)
c.3607G>T (p.Ala1203Ser)
c.3436G>T (p.Ala1146Ser)
c.3322G>T (p.Ala1108Ser)
c.2884G>T (p.Ala962Ser)
n.4152G>T
3g.47000076C>ACA352516619NBEAL2c.3977C>A (p.Ala1326Asp)
c.3875C>A (p.Ala1292Asp)
n.314C>A
c.1960-120C>A
c.449C>A (p.Ala150Asp)
c.3896C>A (p.Ala1299Asp)
c.3956C>A (p.Ala1319Asp)
c.3608C>A (p.Ala1203Asp)
c.3437C>A (p.Ala1146Asp)
c.3323C>A (p.Ala1108Asp)
c.2885C>A (p.Ala962Asp)
n.4153C>A
3g.47000076C>GCA352516621NBEAL2c.3977C>G (p.Ala1326Gly)
c.3875C>G (p.Ala1292Gly)
n.314C>G
c.1960-120C>G
c.449C>G (p.Ala150Gly)
c.3896C>G (p.Ala1299Gly)
c.3956C>G (p.Ala1319Gly)
c.3608C>G (p.Ala1203Gly)
c.3437C>G (p.Ala1146Gly)
c.3323C>G (p.Ala1108Gly)
c.2885C>G (p.Ala962Gly)
n.4153C>G
3g.47000076C>TCA352516623NBEAL2c.3977C>T (p.Ala1326Val)
c.3875C>T (p.Ala1292Val)
n.314C>T
c.1960-120C>T
c.449C>T (p.Ala150Val)
c.3896C>T (p.Ala1299Val)
c.3956C>T (p.Ala1319Val)
c.3608C>T (p.Ala1203Val)
c.3437C>T (p.Ala1146Val)
c.3323C>T (p.Ala1108Val)
c.2885C>T (p.Ala962Val)
n.4153C>T
 gnomAD v4
3g.47000077T>ACA433598261NBEAL2c.3978T>A (p.Ala1326=)
c.3876T>A (p.Ala1292=)
n.315T>A
c.1960-119T>A
c.450T>A (p.Ala150=)
c.3897T>A (p.Ala1299=)
c.3957T>A (p.Ala1319=)
c.3609T>A (p.Ala1203=)
c.3438T>A (p.Ala1146=)
c.3324T>A (p.Ala1108=)
c.2886T>A (p.Ala962=)
n.4154T>A
3g.47000077T>CCA433598263NBEAL2c.3978T>C (p.Ala1326=)
c.3876T>C (p.Ala1292=)
n.315T>C
c.1960-119T>C
c.450T>C (p.Ala150=)
c.3897T>C (p.Ala1299=)
c.3957T>C (p.Ala1319=)
c.3609T>C (p.Ala1203=)
c.3438T>C (p.Ala1146=)
c.3324T>C (p.Ala1108=)
c.2886T>C (p.Ala962=)
n.4154T>C
 dbSNP
3g.47000077T>GCA433598264NBEAL2c.3978T>G (p.Ala1326=)
c.3876T>G (p.Ala1292=)
n.315T>G
c.1960-119T>G
c.450T>G (p.Ala150=)
c.3897T>G (p.Ala1299=)
c.3957T>G (p.Ala1319=)
c.3609T>G (p.Ala1203=)
c.3438T>G (p.Ala1146=)
c.3324T>G (p.Ala1108=)
c.2886T>G (p.Ala962=)
n.4154T>G
3g.47000077T=CA1362363009NBEAL2c.3978T= (p.Ala1326=)
c.3876T= (p.Ala1292=)
n.315T=
c.1960-119T=
c.450T= (p.Ala150=)
c.3897T= (p.Ala1299=)
c.3957T= (p.Ala1319=)
c.3609T= (p.Ala1203=)
c.3438T= (p.Ala1146=)
c.3324T= (p.Ala1108=)
c.2886T= (p.Ala962=)
n.4154T=
3g.47000078G>ACA352516626NBEAL2c.3979G>A (p.Glu1327Lys)
c.3877G>A (p.Glu1293Lys)
n.316G>A
c.1960-118G>A
c.451G>A (p.Glu151Lys)
c.3898G>A (p.Glu1300Lys)
c.3958G>A (p.Glu1320Lys)
c.3610G>A (p.Glu1204Lys)
c.3439G>A (p.Glu1147Lys)
c.3325G>A (p.Glu1109Lys)
c.2887G>A (p.Glu963Lys)
n.4155G>A
3g.47000078G>CCA352516633NBEAL2c.3979G>C (p.Glu1327Gln)
c.3877G>C (p.Glu1293Gln)
n.316G>C
c.1960-118G>C
c.451G>C (p.Glu151Gln)
c.3898G>C (p.Glu1300Gln)
c.3958G>C (p.Glu1320Gln)
c.3610G>C (p.Glu1204Gln)
c.3439G>C (p.Glu1147Gln)
c.3325G>C (p.Glu1109Gln)
c.2887G>C (p.Glu963Gln)
n.4155G>C
3g.47000078G>TCA352516636NBEAL2c.3979G>T (p.Glu1327Ter)
c.3877G>T (p.Glu1293Ter)
n.316G>T
c.1960-118G>T
c.451G>T (p.Glu151Ter)
c.3898G>T (p.Glu1300Ter)
c.3958G>T (p.Glu1320Ter)
c.3610G>T (p.Glu1204Ter)
c.3439G>T (p.Glu1147Ter)
c.3325G>T (p.Glu1109Ter)
c.2887G>T (p.Glu963Ter)
n.4155G>T
3g.47000079A=CA1362363010NBEAL2c.3980A= (p.Glu1327=)
c.3878A= (p.Glu1293=)
n.317A=
c.1960-117A=
c.452A= (p.Glu151=)
c.3899A= (p.Glu1300=)
c.3959A= (p.Glu1320=)
c.3611A= (p.Glu1204=)
c.3440A= (p.Glu1147=)
c.3326A= (p.Glu1109=)
c.2888A= (p.Glu963=)
n.4156A=
3g.47000079A>CCA352516638NBEAL2c.3980A>C (p.Glu1327Ala)
c.3878A>C (p.Glu1293Ala)
n.317A>C
c.1960-117A>C
c.452A>C (p.Glu151Ala)
c.3899A>C (p.Glu1300Ala)
c.3959A>C (p.Glu1320Ala)
c.3611A>C (p.Glu1204Ala)
c.3440A>C (p.Glu1147Ala)
c.3326A>C (p.Glu1109Ala)
c.2888A>C (p.Glu963Ala)
n.4156A>C
3g.47000079A>GCA2361119NBEAL2c.3980A>G (p.Glu1327Gly)
c.3878A>G (p.Glu1293Gly)
n.317A>G
c.1960-117A>G
c.452A>G (p.Glu151Gly)
c.3899A>G (p.Glu1300Gly)
c.3959A>G (p.Glu1320Gly)
c.3611A>G (p.Glu1204Gly)
c.3440A>G (p.Glu1147Gly)
c.3326A>G (p.Glu1109Gly)
c.2888A>G (p.Glu963Gly)
n.4156A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000079A>TCA352516643NBEAL2c.3980A>T (p.Glu1327Val)
c.3878A>T (p.Glu1293Val)
n.317A>T
c.1960-117A>T
c.452A>T (p.Glu151Val)
c.3899A>T (p.Glu1300Val)
c.3959A>T (p.Glu1320Val)
c.3611A>T (p.Glu1204Val)
c.3440A>T (p.Glu1147Val)
c.3326A>T (p.Glu1109Val)
c.2888A>T (p.Glu963Val)
n.4156A>T
3g.47000080G>ACA433598267NBEAL2c.3981G>A (p.Glu1327=)
c.3879G>A (p.Glu1293=)
n.318G>A
c.1960-116G>A
c.453G>A (p.Glu151=)
c.3900G>A (p.Glu1300=)
c.3960G>A (p.Glu1320=)
c.3612G>A (p.Glu1204=)
c.3441G>A (p.Glu1147=)
c.3327G>A (p.Glu1109=)
c.2889G>A (p.Glu963=)
n.4157G>A
 gnomAD v4
3g.47000080G>CCA352516645NBEAL2c.3981G>C (p.Glu1327Asp)
c.3879G>C (p.Glu1293Asp)
n.318G>C
c.1960-116G>C
c.453G>C (p.Glu151Asp)
c.3900G>C (p.Glu1300Asp)
c.3960G>C (p.Glu1320Asp)
c.3612G>C (p.Glu1204Asp)
c.3441G>C (p.Glu1147Asp)
c.3327G>C (p.Glu1109Asp)
c.2889G>C (p.Glu963Asp)
n.4157G>C
3g.47000080G>TCA352516647NBEAL2c.3981G>T (p.Glu1327Asp)
c.3879G>T (p.Glu1293Asp)
n.318G>T
c.1960-116G>T
c.453G>T (p.Glu151Asp)
c.3900G>T (p.Glu1300Asp)
c.3960G>T (p.Glu1320Asp)
c.3612G>T (p.Glu1204Asp)
c.3441G>T (p.Glu1147Asp)
c.3327G>T (p.Glu1109Asp)
c.2889G>T (p.Glu963Asp)
n.4157G>T
3g.47000081C>ACA352516650NBEAL2c.3982C>A (p.Pro1328Thr)
c.3880C>A (p.Pro1294Thr)
n.319C>A
c.1960-115C>A
c.454C>A (p.Pro152Thr)
c.3901C>A (p.Pro1301Thr)
c.3961C>A (p.Pro1321Thr)
c.3613C>A (p.Pro1205Thr)
c.3442C>A (p.Pro1148Thr)
c.3328C>A (p.Pro1110Thr)
c.2890C>A (p.Pro964Thr)
n.4158C>A
 gnomAD v4
3g.47000081C=CA1362363011NBEAL2c.3982C= (p.Pro1328=)
c.3880C= (p.Pro1294=)
n.319C=
c.1960-115C=
c.454C= (p.Pro152=)
c.3901C= (p.Pro1301=)
c.3961C= (p.Pro1321=)
c.3613C= (p.Pro1205=)
c.3442C= (p.Pro1148=)
c.3328C= (p.Pro1110=)
c.2890C= (p.Pro964=)
n.4158C=
3g.47000081C>GCA352516653NBEAL2c.3982C>G (p.Pro1328Ala)
c.3880C>G (p.Pro1294Ala)
n.319C>G
c.1960-115C>G
c.454C>G (p.Pro152Ala)
c.3901C>G (p.Pro1301Ala)
c.3961C>G (p.Pro1321Ala)
c.3613C>G (p.Pro1205Ala)
c.3442C>G (p.Pro1148Ala)
c.3328C>G (p.Pro1110Ala)
c.2890C>G (p.Pro964Ala)
n.4158C>G
3g.47000081C>TCA2361120NBEAL2c.3982C>T (p.Pro1328Ser)
c.3880C>T (p.Pro1294Ser)
n.319C>T
c.1960-115C>T
c.454C>T (p.Pro152Ser)
c.3901C>T (p.Pro1301Ser)
c.3961C>T (p.Pro1321Ser)
c.3613C>T (p.Pro1205Ser)
c.3442C>T (p.Pro1148Ser)
c.3328C>T (p.Pro1110Ser)
c.2890C>T (p.Pro964Ser)
n.4158C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000082C>ACA352516655NBEAL2c.3983C>A (p.Pro1328His)
c.3881C>A (p.Pro1294His)
n.320C>A
c.1960-114C>A
c.455C>A (p.Pro152His)
c.3902C>A (p.Pro1301His)
c.3962C>A (p.Pro1321His)
c.3614C>A (p.Pro1205His)
c.3443C>A (p.Pro1148His)
c.3329C>A (p.Pro1110His)
c.2891C>A (p.Pro964His)
n.4159C>A
3g.47000082C=CA1362363012NBEAL2c.3983C= (p.Pro1328=)
c.3881C= (p.Pro1294=)
n.320C=
c.1960-114C=
c.455C= (p.Pro152=)
c.3902C= (p.Pro1301=)
c.3962C= (p.Pro1321=)
c.3614C= (p.Pro1205=)
c.3443C= (p.Pro1148=)
c.3329C= (p.Pro1110=)
c.2891C= (p.Pro964=)
n.4159C=
3g.47000082C>GCA352516658NBEAL2c.3983C>G (p.Pro1328Arg)
c.3881C>G (p.Pro1294Arg)
n.320C>G
c.1960-114C>G
c.455C>G (p.Pro152Arg)
c.3902C>G (p.Pro1301Arg)
c.3962C>G (p.Pro1321Arg)
c.3614C>G (p.Pro1205Arg)
c.3443C>G (p.Pro1148Arg)
c.3329C>G (p.Pro1110Arg)
c.2891C>G (p.Pro964Arg)
n.4159C>G
3g.47000082C>TCA352516657NBEAL2c.3983C>T (p.Pro1328Leu)
c.3881C>T (p.Pro1294Leu)
n.320C>T
c.1960-114C>T
c.455C>T (p.Pro152Leu)
c.3902C>T (p.Pro1301Leu)
c.3962C>T (p.Pro1321Leu)
c.3614C>T (p.Pro1205Leu)
c.3443C>T (p.Pro1148Leu)
c.3329C>T (p.Pro1110Leu)
c.2891C>T (p.Pro964Leu)
n.4159C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000083T>ACA433598269NBEAL2c.3984T>A (p.Pro1328=)
c.3882T>A (p.Pro1294=)
n.321T>A
c.1960-113T>A
c.456T>A (p.Pro152=)
c.3903T>A (p.Pro1301=)
c.3963T>A (p.Pro1321=)
c.3615T>A (p.Pro1205=)
c.3444T>A (p.Pro1148=)
c.3330T>A (p.Pro1110=)
c.2892T>A (p.Pro964=)
n.4160T>A
3g.47000083T>CCA433598270NBEAL2c.3984T>C (p.Pro1328=)
c.3882T>C (p.Pro1294=)
n.321T>C
c.1960-113T>C
c.456T>C (p.Pro152=)
c.3903T>C (p.Pro1301=)
c.3963T>C (p.Pro1321=)
c.3615T>C (p.Pro1205=)
c.3444T>C (p.Pro1148=)
c.3330T>C (p.Pro1110=)
c.2892T>C (p.Pro964=)
n.4160T>C
3g.47000083T>GCA433598271NBEAL2c.3984T>G (p.Pro1328=)
c.3882T>G (p.Pro1294=)
n.321T>G
c.1960-113T>G
c.456T>G (p.Pro152=)
c.3903T>G (p.Pro1301=)
c.3963T>G (p.Pro1321=)
c.3615T>G (p.Pro1205=)
c.3444T>G (p.Pro1148=)
c.3330T>G (p.Pro1110=)
c.2892T>G (p.Pro964=)
n.4160T>G
3g.47000084T>ACA352516661NBEAL2c.3985T>A (p.Ser1329Thr)
c.3883T>A (p.Ser1295Thr)
n.322T>A
c.1960-112T>A
c.457T>A (p.Ser153Thr)
c.3904T>A (p.Ser1302Thr)
c.3964T>A (p.Ser1322Thr)
c.3616T>A (p.Ser1206Thr)
c.3445T>A (p.Ser1149Thr)
c.3331T>A (p.Ser1111Thr)
c.2893T>A (p.Ser965Thr)
n.4161T>A
3g.47000084T>CCA352516663NBEAL2c.3985T>C (p.Ser1329Pro)
c.3883T>C (p.Ser1295Pro)
n.322T>C
c.1960-112T>C
c.457T>C (p.Ser153Pro)
c.3904T>C (p.Ser1302Pro)
c.3964T>C (p.Ser1322Pro)
c.3616T>C (p.Ser1206Pro)
c.3445T>C (p.Ser1149Pro)
c.3331T>C (p.Ser1111Pro)
c.2893T>C (p.Ser965Pro)
n.4161T>C
3g.47000084T>GCA352516665NBEAL2c.3985T>G (p.Ser1329Ala)
c.3883T>G (p.Ser1295Ala)
n.322T>G
c.1960-112T>G
c.457T>G (p.Ser153Ala)
c.3904T>G (p.Ser1302Ala)
c.3964T>G (p.Ser1322Ala)
c.3616T>G (p.Ser1206Ala)
c.3445T>G (p.Ser1149Ala)
c.3331T>G (p.Ser1111Ala)
c.2893T>G (p.Ser965Ala)
n.4161T>G
3g.47000085C>ACA352516667NBEAL2c.3986C>A (p.Ser1329Ter)
c.3884C>A (p.Ser1295Ter)
n.323C>A
c.1960-111C>A
c.458C>A (p.Ser153Ter)
c.3905C>A (p.Ser1302Ter)
c.3965C>A (p.Ser1322Ter)
c.3617C>A (p.Ser1206Ter)
c.3446C>A (p.Ser1149Ter)
c.3332C>A (p.Ser1111Ter)
c.2894C>A (p.Ser965Ter)
n.4162C>A
3g.47000085C=CA1362363013NBEAL2c.3986C= (p.Ser1329=)
c.3884C= (p.Ser1295=)
n.323C=
c.1960-111C=
c.458C= (p.Ser153=)
c.3905C= (p.Ser1302=)
c.3965C= (p.Ser1322=)
c.3617C= (p.Ser1206=)
c.3446C= (p.Ser1149=)
c.3332C= (p.Ser1111=)
c.2894C= (p.Ser965=)
n.4162C=
3g.47000085C>GCA352516669NBEAL2c.3986C>G (p.Ser1329Ter)
c.3884C>G (p.Ser1295Ter)
n.323C>G
c.1960-111C>G
c.458C>G (p.Ser153Ter)
c.3905C>G (p.Ser1302Ter)
c.3965C>G (p.Ser1322Ter)
c.3617C>G (p.Ser1206Ter)
c.3446C>G (p.Ser1149Ter)
c.3332C>G (p.Ser1111Ter)
c.2894C>G (p.Ser965Ter)
n.4162C>G
3g.47000085C>TCA352516671NBEAL2c.3986C>T (p.Ser1329Leu)
c.3884C>T (p.Ser1295Leu)
n.323C>T
c.1960-111C>T
c.458C>T (p.Ser153Leu)
c.3905C>T (p.Ser1302Leu)
c.3965C>T (p.Ser1322Leu)
c.3617C>T (p.Ser1206Leu)
c.3446C>T (p.Ser1149Leu)
c.3332C>T (p.Ser1111Leu)
c.2894C>T (p.Ser965Leu)
n.4162C>T
 dbSNP
3g.47000086A>CCA433598275NBEAL2c.3987A>C (p.Ser1329=)
c.3885A>C (p.Ser1295=)
n.324A>C
c.1960-110A>C
c.459A>C (p.Ser153=)
c.3906A>C (p.Ser1302=)
c.3966A>C (p.Ser1322=)
c.3618A>C (p.Ser1206=)
c.3447A>C (p.Ser1149=)
c.3333A>C (p.Ser1111=)
c.2895A>C (p.Ser965=)
n.4163A>C
3g.47000086A>GCA433598274NBEAL2c.3987A>G (p.Ser1329=)
c.3885A>G (p.Ser1295=)
n.324A>G
c.1960-110A>G
c.459A>G (p.Ser153=)
c.3906A>G (p.Ser1302=)
c.3966A>G (p.Ser1322=)
c.3618A>G (p.Ser1206=)
c.3447A>G (p.Ser1149=)
c.3333A>G (p.Ser1111=)
c.2895A>G (p.Ser965=)
n.4163A>G
3g.47000086A>TCA433598273NBEAL2c.3987A>T (p.Ser1329=)
c.3885A>T (p.Ser1295=)
n.324A>T
c.1960-110A>T
c.459A>T (p.Ser153=)
c.3906A>T (p.Ser1302=)
c.3966A>T (p.Ser1322=)
c.3618A>T (p.Ser1206=)
c.3447A>T (p.Ser1149=)
c.3333A>T (p.Ser1111=)
c.2895A>T (p.Ser965=)
n.4163A>T
3g.47000087G>ACA352516672NBEAL2c.3988G>A (p.Asp1330Asn)
c.3886G>A (p.Asp1296Asn)
n.325G>A
c.1960-109G>A
c.460G>A (p.Asp154Asn)
c.3907G>A (p.Asp1303Asn)
c.3967G>A (p.Asp1323Asn)
c.3619G>A (p.Asp1207Asn)
c.3448G>A (p.Asp1150Asn)
c.3334G>A (p.Asp1112Asn)
c.2896G>A (p.Asp966Asn)
n.4164G>A
3g.47000087G>CCA352516673NBEAL2c.3988G>C (p.Asp1330His)
c.3886G>C (p.Asp1296His)
n.325G>C
c.1960-109G>C
c.460G>C (p.Asp154His)
c.3907G>C (p.Asp1303His)
c.3967G>C (p.Asp1323His)
c.3619G>C (p.Asp1207His)
c.3448G>C (p.Asp1150His)
c.3334G>C (p.Asp1112His)
c.2896G>C (p.Asp966His)
n.4164G>C
3g.47000087G>TCA352516675NBEAL2c.3988G>T (p.Asp1330Tyr)
c.3886G>T (p.Asp1296Tyr)
n.325G>T
c.1960-109G>T
c.460G>T (p.Asp154Tyr)
c.3907G>T (p.Asp1303Tyr)
c.3967G>T (p.Asp1323Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3448G>T (p.Asp1150Tyr)
c.3334G>T (p.Asp1112Tyr)
c.2896G>T (p.Asp966Tyr)
n.4164G>T
3g.47000088A>CCA352516677NBEAL2c.3989A>C (p.Asp1330Ala)
c.3887A>C (p.Asp1296Ala)
n.326A>C
c.1960-108A>C
c.461A>C (p.Asp154Ala)
c.3908A>C (p.Asp1303Ala)
c.3968A>C (p.Asp1323Ala)
c.3620A>C (p.Asp1207Ala)
c.3449A>C (p.Asp1150Ala)
c.3335A>C (p.Asp1112Ala)
c.2897A>C (p.Asp966Ala)
n.4165A>C
3g.47000088A>GCA352516679NBEAL2c.3989A>G (p.Asp1330Gly)
c.3887A>G (p.Asp1296Gly)
n.326A>G
c.1960-108A>G
c.461A>G (p.Asp154Gly)
c.3908A>G (p.Asp1303Gly)
c.3968A>G (p.Asp1323Gly)
c.3620A>G (p.Asp1207Gly)
c.3449A>G (p.Asp1150Gly)
c.3335A>G (p.Asp1112Gly)
c.2897A>G (p.Asp966Gly)
n.4165A>G
3g.47000088A>TCA352516681NBEAL2c.3989A>T (p.Asp1330Val)
c.3887A>T (p.Asp1296Val)
n.326A>T
c.1960-108A>T
c.461A>T (p.Asp154Val)
c.3908A>T (p.Asp1303Val)
c.3968A>T (p.Asp1323Val)
c.3620A>T (p.Asp1207Val)
c.3449A>T (p.Asp1150Val)
c.3335A>T (p.Asp1112Val)
c.2897A>T (p.Asp966Val)
n.4165A>T
3g.47000089T>ACA352516683NBEAL2c.3990T>A (p.Asp1330Glu)
c.3888T>A (p.Asp1296Glu)
n.327T>A
c.1960-107T>A
c.462T>A (p.Asp154Glu)
c.3909T>A (p.Asp1303Glu)
c.3969T>A (p.Asp1323Glu)
c.3621T>A (p.Asp1207Glu)
c.3450T>A (p.Asp1150Glu)
c.3336T>A (p.Asp1112Glu)
c.2898T>A (p.Asp966Glu)
n.4166T>A
3g.47000089T>CCA2361121NBEAL2c.3990T>C (p.Asp1330=)
c.3888T>C (p.Asp1296=)
n.327T>C
c.1960-107T>C
c.462T>C (p.Asp154=)
c.3909T>C (p.Asp1303=)
c.3969T>C (p.Asp1323=)
c.3621T>C (p.Asp1207=)
c.3450T>C (p.Asp1150=)
c.3336T>C (p.Asp1112=)
c.2898T>C (p.Asp966=)
n.4166T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000089T>GCA352516682NBEAL2c.3990T>G (p.Asp1330Glu)
c.3888T>G (p.Asp1296Glu)
n.327T>G
c.1960-107T>G
c.462T>G (p.Asp154Glu)
c.3909T>G (p.Asp1303Glu)
c.3969T>G (p.Asp1323Glu)
c.3621T>G (p.Asp1207Glu)
c.3450T>G (p.Asp1150Glu)
c.3336T>G (p.Asp1112Glu)
c.2898T>G (p.Asp966Glu)
n.4166T>G
3g.47000089T=CA1362363014NBEAL2c.3990T= (p.Asp1330=)
c.3888T= (p.Asp1296=)
n.327T=
c.1960-107T=
c.462T= (p.Asp154=)
c.3909T= (p.Asp1303=)
c.3969T= (p.Asp1323=)
c.3621T= (p.Asp1207=)
c.3450T= (p.Asp1150=)
c.3336T= (p.Asp1112=)
c.2898T= (p.Asp966=)
n.4166T=
3g.47000090G>ACA352516684NBEAL2c.3991G>A (p.Val1331Ile)
c.3889G>A (p.Val1297Ile)
n.328G>A
c.1960-106G>A
c.463G>A (p.Val155Ile)
c.3910G>A (p.Val1304Ile)
c.3970G>A (p.Val1324Ile)
c.3622G>A (p.Val1208Ile)
c.3451G>A (p.Val1151Ile)
c.3337G>A (p.Val1113Ile)
c.2899G>A (p.Val967Ile)
n.4167G>A
 gnomAD v4
3g.47000090G>CCA352516685NBEAL2c.3991G>C (p.Val1331Leu)
c.3889G>C (p.Val1297Leu)
n.328G>C
c.1960-106G>C
c.463G>C (p.Val155Leu)
c.3910G>C (p.Val1304Leu)
c.3970G>C (p.Val1324Leu)
c.3622G>C (p.Val1208Leu)
c.3451G>C (p.Val1151Leu)
c.3337G>C (p.Val1113Leu)
c.2899G>C (p.Val967Leu)
n.4167G>C
3g.47000090G>TCA352516686NBEAL2c.3991G>T (p.Val1331Phe)
c.3889G>T (p.Val1297Phe)
n.328G>T
c.1960-106G>T
c.463G>T (p.Val155Phe)
c.3910G>T (p.Val1304Phe)
c.3970G>T (p.Val1324Phe)
c.3622G>T (p.Val1208Phe)
c.3451G>T (p.Val1151Phe)
c.3337G>T (p.Val1113Phe)
c.2899G>T (p.Val967Phe)
n.4167G>T
 gnomAD v4
3g.47000091T>ACA352516687NBEAL2c.3992T>A (p.Val1331Asp)
c.3890T>A (p.Val1297Asp)
n.329T>A
c.1960-105T>A
c.464T>A (p.Val155Asp)
c.3911T>A (p.Val1304Asp)
c.3971T>A (p.Val1324Asp)
c.3623T>A (p.Val1208Asp)
c.3452T>A (p.Val1151Asp)
c.3338T>A (p.Val1113Asp)
c.2900T>A (p.Val967Asp)
n.4168T>A
3g.47000091T>CCA352516688NBEAL2c.3992T>C (p.Val1331Ala)
c.3890T>C (p.Val1297Ala)
n.329T>C
c.1960-105T>C
c.464T>C (p.Val155Ala)
c.3911T>C (p.Val1304Ala)
c.3971T>C (p.Val1324Ala)
c.3623T>C (p.Val1208Ala)
c.3452T>C (p.Val1151Ala)
c.3338T>C (p.Val1113Ala)
c.2900T>C (p.Val967Ala)
n.4168T>C
3g.47000091T>GCA352516689NBEAL2c.3992T>G (p.Val1331Gly)
c.3890T>G (p.Val1297Gly)
n.329T>G
c.1960-105T>G
c.464T>G (p.Val155Gly)
c.3911T>G (p.Val1304Gly)
c.3971T>G (p.Val1324Gly)
c.3623T>G (p.Val1208Gly)
c.3452T>G (p.Val1151Gly)
c.3338T>G (p.Val1113Gly)
c.2900T>G (p.Val967Gly)
n.4168T>G
3g.47000092C>ACA433598283NBEAL2c.3993C>A (p.Val1331=)
c.3891C>A (p.Val1297=)
n.330C>A
c.1960-104C>A
c.465C>A (p.Val155=)
c.3912C>A (p.Val1304=)
c.3972C>A (p.Val1324=)
c.3624C>A (p.Val1208=)
c.3453C>A (p.Val1151=)
c.3339C>A (p.Val1113=)
c.2901C>A (p.Val967=)
n.4169C>A
3g.47000092C=CA1362363015NBEAL2c.3993C= (p.Val1331=)
c.3891C= (p.Val1297=)
n.330C=
c.1960-104C=
c.465C= (p.Val155=)
c.3912C= (p.Val1304=)
c.3972C= (p.Val1324=)
c.3624C= (p.Val1208=)
c.3453C= (p.Val1151=)
c.3339C= (p.Val1113=)
c.2901C= (p.Val967=)
n.4169C=
3g.47000092C>GCA433598281NBEAL2c.3993C>G (p.Val1331=)
c.3891C>G (p.Val1297=)
n.330C>G
c.1960-104C>G
c.465C>G (p.Val155=)
c.3912C>G (p.Val1304=)
c.3972C>G (p.Val1324=)
c.3624C>G (p.Val1208=)
c.3453C>G (p.Val1151=)
c.3339C>G (p.Val1113=)
c.2901C>G (p.Val967=)
n.4169C>G
3g.47000092C>TCA433598282NBEAL2c.3993C>T (p.Val1331=)
c.3891C>T (p.Val1297=)
n.330C>T
c.1960-104C>T
c.465C>T (p.Val155=)
c.3912C>T (p.Val1304=)
c.3972C>T (p.Val1324=)
c.3624C>T (p.Val1208=)
c.3453C>T (p.Val1151=)
c.3339C>T (p.Val1113=)
c.2901C>T (p.Val967=)
n.4169C>T
 dbSNP
3g.47000093T>ACA352516690NBEAL2c.3994T>A (p.Phe1332Ile)
c.3892T>A (p.Phe1298Ile)
n.331T>A
c.1960-103T>A
c.466T>A (p.Phe156Ile)
c.3913T>A (p.Phe1305Ile)
c.3973T>A (p.Phe1325Ile)
c.3625T>A (p.Phe1209Ile)
c.3454T>A (p.Phe1152Ile)
c.3340T>A (p.Phe1114Ile)
c.2902T>A (p.Phe968Ile)
n.4170T>A
3g.47000093T>CCA352516691NBEAL2c.3994T>C (p.Phe1332Leu)
c.3892T>C (p.Phe1298Leu)
n.331T>C
c.1960-103T>C
c.466T>C (p.Phe156Leu)
c.3913T>C (p.Phe1305Leu)
c.3973T>C (p.Phe1325Leu)
c.3625T>C (p.Phe1209Leu)
c.3454T>C (p.Phe1152Leu)
c.3340T>C (p.Phe1114Leu)
c.2902T>C (p.Phe968Leu)
n.4170T>C
3g.47000093T>GCA352516692NBEAL2c.3994T>G (p.Phe1332Val)
c.3892T>G (p.Phe1298Val)
n.331T>G
c.1960-103T>G
c.466T>G (p.Phe156Val)
c.3913T>G (p.Phe1305Val)
c.3973T>G (p.Phe1325Val)
c.3625T>G (p.Phe1209Val)
c.3454T>G (p.Phe1152Val)
c.3340T>G (p.Phe1114Val)
c.2902T>G (p.Phe968Val)
n.4170T>G
3g.47000094T>ACA352516693NBEAL2c.3995T>A (p.Phe1332Tyr)
c.3893T>A (p.Phe1298Tyr)
n.332T>A
c.1960-102T>A
c.467T>A (p.Phe156Tyr)
c.3914T>A (p.Phe1305Tyr)
c.3974T>A (p.Phe1325Tyr)
c.3626T>A (p.Phe1209Tyr)
c.3455T>A (p.Phe1152Tyr)
c.3341T>A (p.Phe1114Tyr)
c.2903T>A (p.Phe968Tyr)
n.4171T>A
3g.47000094T>CCA352516694NBEAL2c.3995T>C (p.Phe1332Ser)
c.3893T>C (p.Phe1298Ser)
n.332T>C
c.1960-102T>C
c.467T>C (p.Phe156Ser)
c.3914T>C (p.Phe1305Ser)
c.3974T>C (p.Phe1325Ser)
c.3626T>C (p.Phe1209Ser)
c.3455T>C (p.Phe1152Ser)
c.3341T>C (p.Phe1114Ser)
c.2903T>C (p.Phe968Ser)
n.4171T>C
 dbSNP
3g.47000094T>GCA352516695NBEAL2c.3995T>G (p.Phe1332Cys)
c.3893T>G (p.Phe1298Cys)
n.332T>G
c.1960-102T>G
c.467T>G (p.Phe156Cys)
c.3914T>G (p.Phe1305Cys)
c.3974T>G (p.Phe1325Cys)
c.3626T>G (p.Phe1209Cys)
c.3455T>G (p.Phe1152Cys)
c.3341T>G (p.Phe1114Cys)
c.2903T>G (p.Phe968Cys)
n.4171T>G
3g.47000094T=CA1362363016NBEAL2c.3995T= (p.Phe1332=)
c.3893T= (p.Phe1298=)
n.332T=
c.1960-102T=
c.467T= (p.Phe156=)
c.3914T= (p.Phe1305=)
c.3974T= (p.Phe1325=)
c.3626T= (p.Phe1209=)
c.3455T= (p.Phe1152=)
c.3341T= (p.Phe1114=)
c.2903T= (p.Phe968=)
n.4171T=
3g.47000095C>ACA352516696NBEAL2c.3996C>A (p.Phe1332Leu)
c.3894C>A (p.Phe1298Leu)
n.333C>A
c.1960-101C>A
c.468C>A (p.Phe156Leu)
c.3915C>A (p.Phe1305Leu)
c.3975C>A (p.Phe1325Leu)
c.3627C>A (p.Phe1209Leu)
c.3456C>A (p.Phe1152Leu)
c.3342C>A (p.Phe1114Leu)
c.2904C>A (p.Phe968Leu)
n.4172C>A
3g.47000095C>GCA352516697NBEAL2c.3996C>G (p.Phe1332Leu)
c.3894C>G (p.Phe1298Leu)
n.333C>G
c.1960-101C>G
c.468C>G (p.Phe156Leu)
c.3915C>G (p.Phe1305Leu)
c.3975C>G (p.Phe1325Leu)
c.3627C>G (p.Phe1209Leu)
c.3456C>G (p.Phe1152Leu)
c.3342C>G (p.Phe1114Leu)
c.2904C>G (p.Phe968Leu)
n.4172C>G
3g.47000095C>TCA433598287NBEAL2c.3996C>T (p.Phe1332=)
c.3894C>T (p.Phe1298=)
n.333C>T
c.1960-101C>T
c.468C>T (p.Phe156=)
c.3915C>T (p.Phe1305=)
c.3975C>T (p.Phe1325=)
c.3627C>T (p.Phe1209=)
c.3456C>T (p.Phe1152=)
c.3342C>T (p.Phe1114=)
c.2904C>T (p.Phe968=)
n.4172C>T
3g.47000096C>ACA352516698NBEAL2c.3997C>A (p.Leu1333Met)
c.3895C>A (p.Leu1299Met)
n.334C>A
c.1960-100C>A
c.469C>A (p.Leu157Met)
c.3916C>A (p.Leu1306Met)
c.3976C>A (p.Leu1326Met)
c.3628C>A (p.Leu1210Met)
c.3457C>A (p.Leu1153Met)
c.3343C>A (p.Leu1115Met)
c.2905C>A (p.Leu969Met)
n.4173C>A
3g.47000096C=CA1362363017NBEAL2c.3997C= (p.Leu1333=)
c.3895C= (p.Leu1299=)
n.334C=
c.1960-100C=
c.469C= (p.Leu157=)
c.3916C= (p.Leu1306=)
c.3976C= (p.Leu1326=)
c.3628C= (p.Leu1210=)
c.3457C= (p.Leu1153=)
c.3343C= (p.Leu1115=)
c.2905C= (p.Leu969=)
n.4173C=
3g.47000096C>GCA352516699NBEAL2c.3997C>G (p.Leu1333Val)
c.3895C>G (p.Leu1299Val)
n.334C>G
c.1960-100C>G
c.469C>G (p.Leu157Val)
c.3916C>G (p.Leu1306Val)
c.3976C>G (p.Leu1326Val)
c.3628C>G (p.Leu1210Val)
c.3457C>G (p.Leu1153Val)
c.3343C>G (p.Leu1115Val)
c.2905C>G (p.Leu969Val)
n.4173C>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000096C>TCA433598289NBEAL2c.3997C>T (p.Leu1333=)
c.3895C>T (p.Leu1299=)
n.334C>T
c.1960-100C>T
c.469C>T (p.Leu157=)
c.3916C>T (p.Leu1306=)
c.3976C>T (p.Leu1326=)
c.3628C>T (p.Leu1210=)
c.3457C>T (p.Leu1153=)
c.3343C>T (p.Leu1115=)
c.2905C>T (p.Leu969=)
n.4173C>T
3g.47000097T>ACA352516700NBEAL2c.3998T>A (p.Leu1333Gln)
c.3896T>A (p.Leu1299Gln)
n.335T>A
c.1960-99T>A
c.470T>A (p.Leu157Gln)
c.3917T>A (p.Leu1306Gln)
c.3977T>A (p.Leu1326Gln)
c.3629T>A (p.Leu1210Gln)
c.3458T>A (p.Leu1153Gln)
c.3344T>A (p.Leu1115Gln)
c.2906T>A (p.Leu969Gln)
n.4174T>A
3g.47000097T>CCA2361122NBEAL2c.3998T>C (p.Leu1333Pro)
c.3896T>C (p.Leu1299Pro)
n.335T>C
c.1960-99T>C
c.470T>C (p.Leu157Pro)
c.3917T>C (p.Leu1306Pro)
c.3977T>C (p.Leu1326Pro)
c.3629T>C (p.Leu1210Pro)
c.3458T>C (p.Leu1153Pro)
c.3344T>C (p.Leu1115Pro)
c.2906T>C (p.Leu969Pro)
n.4174T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000097T>GCA352516701NBEAL2c.3998T>G (p.Leu1333Arg)
c.3896T>G (p.Leu1299Arg)
n.335T>G
c.1960-99T>G
c.470T>G (p.Leu157Arg)
c.3917T>G (p.Leu1306Arg)
c.3977T>G (p.Leu1326Arg)
c.3629T>G (p.Leu1210Arg)
c.3458T>G (p.Leu1153Arg)
c.3344T>G (p.Leu1115Arg)
c.2906T>G (p.Leu969Arg)
n.4174T>G
3g.47000097T=CA1362363018NBEAL2c.3998T= (p.Leu1333=)
c.3896T= (p.Leu1299=)
n.335T=
c.1960-99T=
c.470T= (p.Leu157=)
c.3917T= (p.Leu1306=)
c.3977T= (p.Leu1326=)
c.3629T= (p.Leu1210=)
c.3458T= (p.Leu1153=)
c.3344T= (p.Leu1115=)
c.2906T= (p.Leu969=)
n.4174T=
3g.47000098G>ACA433598308NBEAL2c.3999G>A (p.Leu1333=)
c.3897G>A (p.Leu1299=)
n.336G>A
c.1960-98G>A
c.471G>A (p.Leu157=)
c.3918G>A (p.Leu1306=)
c.3978G>A (p.Leu1326=)
c.3630G>A (p.Leu1210=)
c.3459G>A (p.Leu1153=)
c.3345G>A (p.Leu1115=)
c.2907G>A (p.Leu969=)
n.4175G>A
3g.47000098G>CCA433598306NBEAL2c.3999G>C (p.Leu1333=)
c.3897G>C (p.Leu1299=)
n.336G>C
c.1960-98G>C
c.471G>C (p.Leu157=)
c.3918G>C (p.Leu1306=)
c.3978G>C (p.Leu1326=)
c.3630G>C (p.Leu1210=)
c.3459G>C (p.Leu1153=)
c.3345G>C (p.Leu1115=)
c.2907G>C (p.Leu969=)
n.4175G>C
 gnomAD v4
3g.47000098G>TCA433598307NBEAL2c.3999G>T (p.Leu1333=)
c.3897G>T (p.Leu1299=)
n.336G>T
c.1960-98G>T
c.471G>T (p.Leu157=)
c.3918G>T (p.Leu1306=)
c.3978G>T (p.Leu1326=)
c.3630G>T (p.Leu1210=)
c.3459G>T (p.Leu1153=)
c.3345G>T (p.Leu1115=)
c.2907G>T (p.Leu969=)
n.4175G>T
3g.47000099C>ACA352516702NBEAL2c.4000C>A (p.Pro1334Thr)
c.3898C>A (p.Pro1300Thr)
n.337C>A
c.1960-97C>A
c.472C>A (p.Pro158Thr)
c.3919C>A (p.Pro1307Thr)
c.3979C>A (p.Pro1327Thr)
c.3631C>A (p.Pro1211Thr)
c.3460C>A (p.Pro1154Thr)
c.3346C>A (p.Pro1116Thr)
c.2908C>A (p.Pro970Thr)
n.4176C>A
3g.47000099C=CA1362363019NBEAL2c.4000C= (p.Pro1334=)
c.3898C= (p.Pro1300=)
n.337C=
c.1960-97C=
c.472C= (p.Pro158=)
c.3919C= (p.Pro1307=)
c.3979C= (p.Pro1327=)
c.3631C= (p.Pro1211=)
c.3460C= (p.Pro1154=)
c.3346C= (p.Pro1116=)
c.2908C= (p.Pro970=)
n.4176C=
3g.47000099C>GCA2361124NBEAL2c.4000C>G (p.Pro1334Ala)
c.3898C>G (p.Pro1300Ala)
n.337C>G
c.1960-97C>G
c.472C>G (p.Pro158Ala)
c.3919C>G (p.Pro1307Ala)
c.3979C>G (p.Pro1327Ala)
c.3631C>G (p.Pro1211Ala)
c.3460C>G (p.Pro1154Ala)
c.3346C>G (p.Pro1116Ala)
c.2908C>G (p.Pro970Ala)
n.4176C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000099C>TCA2361123NBEAL2c.4000C>T (p.Pro1334Ser)
c.3898C>T (p.Pro1300Ser)
n.337C>T
c.1960-97C>T
c.472C>T (p.Pro158Ser)
c.3919C>T (p.Pro1307Ser)
c.3979C>T (p.Pro1327Ser)
c.3631C>T (p.Pro1211Ser)
c.3460C>T (p.Pro1154Ser)
c.3346C>T (p.Pro1116Ser)
c.2908C>T (p.Pro970Ser)
n.4176C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000100C>ACA73817706NBEAL2c.4001C>A (p.Pro1334His)
c.3899C>A (p.Pro1300His)
n.338C>A
c.1960-96C>A
c.473C>A (p.Pro158His)
c.3920C>A (p.Pro1307His)
c.3980C>A (p.Pro1327His)
c.3632C>A (p.Pro1211His)
c.3461C>A (p.Pro1154His)
c.3347C>A (p.Pro1116His)
c.2909C>A (p.Pro970His)
n.4177C>A
 dbSNP gnomAD v2 gnomAD v4
3g.47000100C=CA1362363020NBEAL2c.4001C= (p.Pro1334=)
c.3899C= (p.Pro1300=)
n.338C=
c.1960-96C=
c.473C= (p.Pro158=)
c.3920C= (p.Pro1307=)
c.3980C= (p.Pro1327=)
c.3632C= (p.Pro1211=)
c.3461C= (p.Pro1154=)
c.3347C= (p.Pro1116=)
c.2909C= (p.Pro970=)
n.4177C=
3g.47000100C>GCA352516703NBEAL2c.4001C>G (p.Pro1334Arg)
c.3899C>G (p.Pro1300Arg)
n.338C>G
c.1960-96C>G
c.473C>G (p.Pro158Arg)
c.3920C>G (p.Pro1307Arg)
c.3980C>G (p.Pro1327Arg)
c.3632C>G (p.Pro1211Arg)
c.3461C>G (p.Pro1154Arg)
c.3347C>G (p.Pro1116Arg)
c.2909C>G (p.Pro970Arg)
n.4177C>G
3g.47000100C>TCA352516704NBEAL2c.4001C>T (p.Pro1334Leu)
c.3899C>T (p.Pro1300Leu)
n.338C>T
c.1960-96C>T
c.473C>T (p.Pro158Leu)
c.3920C>T (p.Pro1307Leu)
c.3980C>T (p.Pro1327Leu)
c.3632C>T (p.Pro1211Leu)
c.3461C>T (p.Pro1154Leu)
c.3347C>T (p.Pro1116Leu)
c.2909C>T (p.Pro970Leu)
n.4177C>T
3g.47000101C>ACA433598312NBEAL2c.4002C>A (p.Pro1334=)
c.3900C>A (p.Pro1300=)
n.339C>A
c.1960-95C>A
c.474C>A (p.Pro158=)
c.3921C>A (p.Pro1307=)
c.3981C>A (p.Pro1327=)
c.3633C>A (p.Pro1211=)
c.3462C>A (p.Pro1154=)
c.3348C>A (p.Pro1116=)
c.2910C>A (p.Pro970=)
n.4178C>A
3g.47000101C=CA1362363021NBEAL2c.4002C= (p.Pro1334=)
c.3900C= (p.Pro1300=)
n.339C=
c.1960-95C=
c.474C= (p.Pro158=)
c.3921C= (p.Pro1307=)
c.3981C= (p.Pro1327=)
c.3633C= (p.Pro1211=)
c.3462C= (p.Pro1154=)
c.3348C= (p.Pro1116=)
c.2910C= (p.Pro970=)
n.4178C=
3g.47000101C>GCA433598313NBEAL2c.4002C>G (p.Pro1334=)
c.3900C>G (p.Pro1300=)
n.339C>G
c.1960-95C>G
c.474C>G (p.Pro158=)
c.3921C>G (p.Pro1307=)
c.3981C>G (p.Pro1327=)
c.3633C>G (p.Pro1211=)
c.3462C>G (p.Pro1154=)
c.3348C>G (p.Pro1116=)
c.2910C>G (p.Pro970=)
n.4178C>G
3g.47000101C>TCA433598314NBEAL2c.4002C>T (p.Pro1334=)
c.3900C>T (p.Pro1300=)
n.339C>T
c.1960-95C>T
c.474C>T (p.Pro158=)
c.3921C>T (p.Pro1307=)
c.3981C>T (p.Pro1327=)
c.3633C>T (p.Pro1211=)
c.3462C>T (p.Pro1154=)
c.3348C>T (p.Pro1116=)
c.2910C>T (p.Pro970=)
n.4178C>T
 dbSNP
3g.47000102T>ACA352516705NBEAL2c.4003T>A (p.Ser1335Thr)
c.3901T>A (p.Ser1301Thr)
n.340T>A
c.1960-94T>A
c.475T>A (p.Ser159Thr)
c.3922T>A (p.Ser1308Thr)
c.3982T>A (p.Ser1328Thr)
c.3634T>A (p.Ser1212Thr)
c.3463T>A (p.Ser1155Thr)
c.3349T>A (p.Ser1117Thr)
c.2911T>A (p.Ser971Thr)
n.4179T>A
3g.47000102T>CCA352516706NBEAL2c.4003T>C (p.Ser1335Pro)
c.3901T>C (p.Ser1301Pro)
n.340T>C
c.1960-94T>C
c.475T>C (p.Ser159Pro)
c.3922T>C (p.Ser1308Pro)
c.3982T>C (p.Ser1328Pro)
c.3634T>C (p.Ser1212Pro)
c.3463T>C (p.Ser1155Pro)
c.3349T>C (p.Ser1117Pro)
c.2911T>C (p.Ser971Pro)
n.4179T>C
3g.47000102T>GCA352516707NBEAL2c.4003T>G (p.Ser1335Ala)
c.3901T>G (p.Ser1301Ala)
n.340T>G
c.1960-94T>G
c.475T>G (p.Ser159Ala)
c.3922T>G (p.Ser1308Ala)
c.3982T>G (p.Ser1328Ala)
c.3634T>G (p.Ser1212Ala)
c.3463T>G (p.Ser1155Ala)
c.3349T>G (p.Ser1117Ala)
c.2911T>G (p.Ser971Ala)
n.4179T>G
3g.47000103C>ACA352516708NBEAL2c.4004C>A (p.Ser1335Ter)
c.3902C>A (p.Ser1301Ter)
n.341C>A
c.1960-93C>A
c.476C>A (p.Ser159Ter)
c.3923C>A (p.Ser1308Ter)
c.3983C>A (p.Ser1328Ter)
c.3635C>A (p.Ser1212Ter)
c.3464C>A (p.Ser1155Ter)
c.3350C>A (p.Ser1117Ter)
c.2912C>A (p.Ser971Ter)
n.4180C>A
3g.47000103C>GCA352516710NBEAL2c.4004C>G (p.Ser1335Ter)
c.3902C>G (p.Ser1301Ter)
n.341C>G
c.1960-93C>G
c.476C>G (p.Ser159Ter)
c.3923C>G (p.Ser1308Ter)
c.3983C>G (p.Ser1328Ter)
c.3635C>G (p.Ser1212Ter)
c.3464C>G (p.Ser1155Ter)
c.3350C>G (p.Ser1117Ter)
c.2912C>G (p.Ser971Ter)
n.4180C>G
3g.47000103C>TCA352516709NBEAL2c.4004C>T (p.Ser1335Leu)
c.3902C>T (p.Ser1301Leu)
n.341C>T
c.1960-93C>T
c.476C>T (p.Ser159Leu)
c.3923C>T (p.Ser1308Leu)
c.3983C>T (p.Ser1328Leu)
c.3635C>T (p.Ser1212Leu)
c.3464C>T (p.Ser1155Leu)
c.3350C>T (p.Ser1117Leu)
c.2912C>T (p.Ser971Leu)
n.4180C>T
3g.47000104A>CCA433598317NBEAL2c.4005A>C (p.Ser1335=)
c.3903A>C (p.Ser1301=)
n.342A>C
c.1960-92A>C
c.477A>C (p.Ser159=)
c.3924A>C (p.Ser1308=)
c.3984A>C (p.Ser1328=)
c.3636A>C (p.Ser1212=)
c.3465A>C (p.Ser1155=)
c.3351A>C (p.Ser1117=)
c.2913A>C (p.Ser971=)
n.4181A>C
3g.47000104A>GCA433598318NBEAL2c.4005A>G (p.Ser1335=)
c.3903A>G (p.Ser1301=)
n.342A>G
c.1960-92A>G
c.477A>G (p.Ser159=)
c.3924A>G (p.Ser1308=)
c.3984A>G (p.Ser1328=)
c.3636A>G (p.Ser1212=)
c.3465A>G (p.Ser1155=)
c.3351A>G (p.Ser1117=)
c.2913A>G (p.Ser971=)
n.4181A>G
3g.47000104A>TCA433598319NBEAL2c.4005A>T (p.Ser1335=)
c.3903A>T (p.Ser1301=)
n.342A>T
c.1960-92A>T
c.477A>T (p.Ser159=)
c.3924A>T (p.Ser1308=)
c.3984A>T (p.Ser1328=)
c.3636A>T (p.Ser1212=)
c.3465A>T (p.Ser1155=)
c.3351A>T (p.Ser1117=)
c.2913A>T (p.Ser971=)
n.4181A>T
3g.47000105G>ACA352516711NBEAL2c.4006G>A (p.Glu1336Lys)
c.3904G>A (p.Glu1302Lys)
n.343G>A
c.1960-91G>A
c.478G>A (p.Glu160Lys)
c.3925G>A (p.Glu1309Lys)
c.3985G>A (p.Glu1329Lys)
c.3637G>A (p.Glu1213Lys)
c.3466G>A (p.Glu1156Lys)
c.3352G>A (p.Glu1118Lys)
c.2914G>A (p.Glu972Lys)
n.4182G>A
3g.47000105G>CCA352516712NBEAL2c.4006G>C (p.Glu1336Gln)
c.3904G>C (p.Glu1302Gln)
n.343G>C
c.1960-91G>C
c.478G>C (p.Glu160Gln)
c.3925G>C (p.Glu1309Gln)
c.3985G>C (p.Glu1329Gln)
c.3637G>C (p.Glu1213Gln)
c.3466G>C (p.Glu1156Gln)
c.3352G>C (p.Glu1118Gln)
c.2914G>C (p.Glu972Gln)
n.4182G>C
3g.47000105G>TCA352516713NBEAL2c.4006G>T (p.Glu1336Ter)
c.3904G>T (p.Glu1302Ter)
n.343G>T
c.1960-91G>T
c.478G>T (p.Glu160Ter)
c.3925G>T (p.Glu1309Ter)
c.3985G>T (p.Glu1329Ter)
c.3637G>T (p.Glu1213Ter)
c.3466G>T (p.Glu1156Ter)
c.3352G>T (p.Glu1118Ter)
c.2914G>T (p.Glu972Ter)
n.4182G>T
3g.47000106A>CCA352516714NBEAL2c.4007A>C (p.Glu1336Ala)
c.3905A>C (p.Glu1302Ala)
n.344A>C
c.1960-90A>C
c.479A>C (p.Glu160Ala)
c.3926A>C (p.Glu1309Ala)
c.3986A>C (p.Glu1329Ala)
c.3638A>C (p.Glu1213Ala)
c.3467A>C (p.Glu1156Ala)
c.3353A>C (p.Glu1118Ala)
c.2915A>C (p.Glu972Ala)
n.4183A>C
3g.47000106A>GCA352516715NBEAL2c.4007A>G (p.Glu1336Gly)
c.3905A>G (p.Glu1302Gly)
n.344A>G
c.1960-90A>G
c.479A>G (p.Glu160Gly)
c.3926A>G (p.Glu1309Gly)
c.3986A>G (p.Glu1329Gly)
c.3638A>G (p.Glu1213Gly)
c.3467A>G (p.Glu1156Gly)
c.3353A>G (p.Glu1118Gly)
c.2915A>G (p.Glu972Gly)
n.4183A>G
3g.47000106A>TCA352516716NBEAL2c.4007A>T (p.Glu1336Val)
c.3905A>T (p.Glu1302Val)
n.344A>T
c.1960-90A>T
c.479A>T (p.Glu160Val)
c.3926A>T (p.Glu1309Val)
c.3986A>T (p.Glu1329Val)
c.3638A>T (p.Glu1213Val)
c.3467A>T (p.Glu1156Val)
c.3353A>T (p.Glu1118Val)
c.2915A>T (p.Glu972Val)
n.4183A>T
3g.47000107G>ACA433598323NBEAL2c.4008G>A (p.Glu1336=)
c.3906G>A (p.Glu1302=)
n.345G>A
c.1960-89G>A
c.480G>A (p.Glu160=)
c.3927G>A (p.Glu1309=)
c.3987G>A (p.Glu1329=)
c.3639G>A (p.Glu1213=)
c.3468G>A (p.Glu1156=)
c.3354G>A (p.Glu1118=)
c.2916G>A (p.Glu972=)
n.4184G>A
 gnomAD v4
3g.47000107G>CCA352516717NBEAL2c.4008G>C (p.Glu1336Asp)
c.3906G>C (p.Glu1302Asp)
n.345G>C
c.1960-89G>C
c.480G>C (p.Glu160Asp)
c.3927G>C (p.Glu1309Asp)
c.3987G>C (p.Glu1329Asp)
c.3639G>C (p.Glu1213Asp)
c.3468G>C (p.Glu1156Asp)
c.3354G>C (p.Glu1118Asp)
c.2916G>C (p.Glu972Asp)
n.4184G>C
3g.47000107G>TCA352516718NBEAL2c.4008G>T (p.Glu1336Asp)
c.3906G>T (p.Glu1302Asp)
n.345G>T
c.1960-89G>T
c.480G>T (p.Glu160Asp)
c.3927G>T (p.Glu1309Asp)
c.3987G>T (p.Glu1329Asp)
c.3639G>T (p.Glu1213Asp)
c.3468G>T (p.Glu1156Asp)
c.3354G>T (p.Glu1118Asp)
c.2916G>T (p.Glu972Asp)
n.4184G>T
3g.47000108G>ACA352516719NBEAL2c.4009G>A (p.Ala1337Thr)
c.3907G>A (p.Ala1303Thr)
n.346G>A
c.1960-88G>A
c.481G>A (p.Ala161Thr)
c.3928G>A (p.Ala1310Thr)
c.3988G>A (p.Ala1330Thr)
c.3640G>A (p.Ala1214Thr)
c.3469G>A (p.Ala1157Thr)
c.3355G>A (p.Ala1119Thr)
c.2917G>A (p.Ala973Thr)
n.4185G>A
 gnomAD v4
3g.47000108G>CCA352516720NBEAL2c.4009G>C (p.Ala1337Pro)
c.3907G>C (p.Ala1303Pro)
n.346G>C
c.1960-88G>C
c.481G>C (p.Ala161Pro)
c.3928G>C (p.Ala1310Pro)
c.3988G>C (p.Ala1330Pro)
c.3640G>C (p.Ala1214Pro)
c.3469G>C (p.Ala1157Pro)
c.3355G>C (p.Ala1119Pro)
c.2917G>C (p.Ala973Pro)
n.4185G>C
3g.47000108G=CA1362363022NBEAL2c.4009G= (p.Ala1337=)
c.3907G= (p.Ala1303=)
n.346G=
c.1960-88G=
c.481G= (p.Ala161=)
c.3928G= (p.Ala1310=)
c.3988G= (p.Ala1330=)
c.3640G= (p.Ala1214=)
c.3469G= (p.Ala1157=)
c.3355G= (p.Ala1119=)
c.2917G= (p.Ala973=)
n.4185G=
3g.47000108G>TCA352516721NBEAL2c.4009G>T (p.Ala1337Ser)
c.3907G>T (p.Ala1303Ser)
n.346G>T
c.1960-88G>T
c.481G>T (p.Ala161Ser)
c.3928G>T (p.Ala1310Ser)
c.3988G>T (p.Ala1330Ser)
c.3640G>T (p.Ala1214Ser)
c.3469G>T (p.Ala1157Ser)
c.3355G>T (p.Ala1119Ser)
c.2917G>T (p.Ala973Ser)
n.4185G>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000109C>ACA352516724NBEAL2c.4010C>A (p.Ala1337Asp)
c.3908C>A (p.Ala1303Asp)
n.347C>A
c.1960-87C>A
c.482C>A (p.Ala161Asp)
c.3929C>A (p.Ala1310Asp)
c.3989C>A (p.Ala1330Asp)
c.3641C>A (p.Ala1214Asp)
c.3470C>A (p.Ala1157Asp)
c.3356C>A (p.Ala1119Asp)
c.2918C>A (p.Ala973Asp)
n.4186C>A
3g.47000109C>GCA352516723NBEAL2c.4010C>G (p.Ala1337Gly)
c.3908C>G (p.Ala1303Gly)
n.347C>G
c.1960-87C>G
c.482C>G (p.Ala161Gly)
c.3929C>G (p.Ala1310Gly)
c.3989C>G (p.Ala1330Gly)
c.3641C>G (p.Ala1214Gly)
c.3470C>G (p.Ala1157Gly)
c.3356C>G (p.Ala1119Gly)
c.2918C>G (p.Ala973Gly)
n.4186C>G
3g.47000109C>TCA352516722NBEAL2c.4010C>T (p.Ala1337Val)
c.3908C>T (p.Ala1303Val)
n.347C>T
c.1960-87C>T
c.482C>T (p.Ala161Val)
c.3929C>T (p.Ala1310Val)
c.3989C>T (p.Ala1330Val)
c.3641C>T (p.Ala1214Val)
c.3470C>T (p.Ala1157Val)
c.3356C>T (p.Ala1119Val)
c.2918C>T (p.Ala973Val)
n.4186C>T
3g.47000110C>ACA433598327NBEAL2c.4011C>A (p.Ala1337=)
c.3909C>A (p.Ala1303=)
n.348C>A
c.1960-86C>A
c.483C>A (p.Ala161=)
c.3930C>A (p.Ala1310=)
c.3990C>A (p.Ala1330=)
c.3642C>A (p.Ala1214=)
c.3471C>A (p.Ala1157=)
c.3357C>A (p.Ala1119=)
c.2919C>A (p.Ala973=)
n.4187C>A
3g.47000110C>GCA433598328NBEAL2c.4011C>G (p.Ala1337=)
c.3909C>G (p.Ala1303=)
n.348C>G
c.1960-86C>G
c.483C>G (p.Ala161=)
c.3930C>G (p.Ala1310=)
c.3990C>G (p.Ala1330=)
c.3642C>G (p.Ala1214=)
c.3471C>G (p.Ala1157=)
c.3357C>G (p.Ala1119=)
c.2919C>G (p.Ala973=)
n.4187C>G
3g.47000110C>TCA433598329NBEAL2c.4011C>T (p.Ala1337=)
c.3909C>T (p.Ala1303=)
n.348C>T
c.1960-86C>T
c.483C>T (p.Ala161=)
c.3930C>T (p.Ala1310=)
c.3990C>T (p.Ala1330=)
c.3642C>T (p.Ala1214=)
c.3471C>T (p.Ala1157=)
c.3357C>T (p.Ala1119=)
c.2919C>T (p.Ala973=)
n.4187C>T
3g.47000111C>ACA352516726NBEAL2c.4012C>A (p.Pro1338Thr)
c.3910C>A (p.Pro1304Thr)
n.349C>A
c.1960-85C>A
c.484C>A (p.Pro162Thr)
c.3931C>A (p.Pro1311Thr)
c.3991C>A (p.Pro1331Thr)
c.3643C>A (p.Pro1215Thr)
c.3472C>A (p.Pro1158Thr)
c.3358C>A (p.Pro1120Thr)
c.2920C>A (p.Pro974Thr)
n.4188C>A
3g.47000111C=CA1362363023NBEAL2c.4012C= (p.Pro1338=)
c.3910C= (p.Pro1304=)
n.349C=
c.1960-85C=
c.484C= (p.Pro162=)
c.3931C= (p.Pro1311=)
c.3991C= (p.Pro1331=)
c.3643C= (p.Pro1215=)
c.3472C= (p.Pro1158=)
c.3358C= (p.Pro1120=)
c.2920C= (p.Pro974=)
n.4188C=
3g.47000111C>GCA352516725NBEAL2c.4012C>G (p.Pro1338Ala)
c.3910C>G (p.Pro1304Ala)
n.349C>G
c.1960-85C>G
c.484C>G (p.Pro162Ala)
c.3931C>G (p.Pro1311Ala)
c.3991C>G (p.Pro1331Ala)
c.3643C>G (p.Pro1215Ala)
c.3472C>G (p.Pro1158Ala)
c.3358C>G (p.Pro1120Ala)
c.2920C>G (p.Pro974Ala)
n.4188C>G
3g.47000111C>TCA352516727NBEAL2c.4012C>T (p.Pro1338Ser)
c.3910C>T (p.Pro1304Ser)
n.349C>T
c.1960-85C>T
c.484C>T (p.Pro162Ser)
c.3931C>T (p.Pro1311Ser)
c.3991C>T (p.Pro1331Ser)
c.3643C>T (p.Pro1215Ser)
c.3472C>T (p.Pro1158Ser)
c.3358C>T (p.Pro1120Ser)
c.2920C>T (p.Pro974Ser)
n.4188C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000112C>ACA2361126NBEAL2c.4013C>A (p.Pro1338His)
c.3911C>A (p.Pro1304His)
n.350C>A
c.1960-84C>A
c.485C>A (p.Pro162His)
c.3932C>A (p.Pro1311His)
c.3992C>A (p.Pro1331His)
c.3644C>A (p.Pro1215His)
c.3473C>A (p.Pro1158His)
c.3359C>A (p.Pro1120His)
c.2921C>A (p.Pro974His)
n.4189C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000112C=CA1362363024NBEAL2c.4013C= (p.Pro1338=)
c.3911C= (p.Pro1304=)
n.350C=
c.1960-84C=
c.485C= (p.Pro162=)
c.3932C= (p.Pro1311=)
c.3992C= (p.Pro1331=)
c.3644C= (p.Pro1215=)
c.3473C= (p.Pro1158=)
c.3359C= (p.Pro1120=)
c.2921C= (p.Pro974=)
n.4189C=
3g.47000112C>GCA2361125NBEAL2c.4013C>G (p.Pro1338Arg)
c.3911C>G (p.Pro1304Arg)
n.350C>G
c.1960-84C>G
c.485C>G (p.Pro162Arg)
c.3932C>G (p.Pro1311Arg)
c.3992C>G (p.Pro1331Arg)
c.3644C>G (p.Pro1215Arg)
c.3473C>G (p.Pro1158Arg)
c.3359C>G (p.Pro1120Arg)
c.2921C>G (p.Pro974Arg)
n.4189C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000112C>TCA352516728NBEAL2c.4013C>T (p.Pro1338Leu)
c.3911C>T (p.Pro1304Leu)
n.350C>T
c.1960-84C>T
c.485C>T (p.Pro162Leu)
c.3932C>T (p.Pro1311Leu)
c.3992C>T (p.Pro1331Leu)
c.3644C>T (p.Pro1215Leu)
c.3473C>T (p.Pro1158Leu)
c.3359C>T (p.Pro1120Leu)
c.2921C>T (p.Pro974Leu)
n.4189C>T
3g.47000113C>ACA433598330NBEAL2c.4014C>A (p.Pro1338=)
c.3912C>A (p.Pro1304=)
n.351C>A
c.1960-83C>A
c.486C>A (p.Pro162=)
c.3933C>A (p.Pro1311=)
c.3993C>A (p.Pro1331=)
c.3645C>A (p.Pro1215=)
c.3474C>A (p.Pro1158=)
c.3360C>A (p.Pro1120=)
c.2922C>A (p.Pro974=)
n.4190C>A
3g.47000113C>GCA433598331NBEAL2c.4014C>G (p.Pro1338=)
c.3912C>G (p.Pro1304=)
n.351C>G
c.1960-83C>G
c.486C>G (p.Pro162=)
c.3933C>G (p.Pro1311=)
c.3993C>G (p.Pro1331=)
c.3645C>G (p.Pro1215=)
c.3474C>G (p.Pro1158=)
c.3360C>G (p.Pro1120=)
c.2922C>G (p.Pro974=)
n.4190C>G
3g.47000113C>TCA433598333NBEAL2c.4014C>T (p.Pro1338=)
c.3912C>T (p.Pro1304=)
n.351C>T
c.1960-83C>T
c.486C>T (p.Pro162=)
c.3933C>T (p.Pro1311=)
c.3993C>T (p.Pro1331=)
c.3645C>T (p.Pro1215=)
c.3474C>T (p.Pro1158=)
c.3360C>T (p.Pro1120=)
c.2922C>T (p.Pro974=)
n.4190C>T
3g.47000114T>ACA352516729NBEAL2c.4015T>A (p.Cys1339Ser)
c.3913T>A (p.Cys1305Ser)
n.352T>A
c.1960-82T>A
c.487T>A (p.Cys163Ser)
c.3934T>A (p.Cys1312Ser)
c.3994T>A (p.Cys1332Ser)
c.3646T>A (p.Cys1216Ser)
c.3475T>A (p.Cys1159Ser)
c.3361T>A (p.Cys1121Ser)
c.2923T>A (p.Cys975Ser)
n.4191T>A
 gnomAD v4
3g.47000114T>CCA352516730NBEAL2c.4015T>C (p.Cys1339Arg)
c.3913T>C (p.Cys1305Arg)
n.352T>C
c.1960-82T>C
c.487T>C (p.Cys163Arg)
c.3934T>C (p.Cys1312Arg)
c.3994T>C (p.Cys1332Arg)
c.3646T>C (p.Cys1216Arg)
c.3475T>C (p.Cys1159Arg)
c.3361T>C (p.Cys1121Arg)
c.2923T>C (p.Cys975Arg)
n.4191T>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000114T>GCA352516731NBEAL2c.4015T>G (p.Cys1339Gly)
c.3913T>G (p.Cys1305Gly)
n.352T>G
c.1960-82T>G
c.487T>G (p.Cys163Gly)
c.3934T>G (p.Cys1312Gly)
c.3994T>G (p.Cys1332Gly)
c.3646T>G (p.Cys1216Gly)
c.3475T>G (p.Cys1159Gly)
c.3361T>G (p.Cys1121Gly)
c.2923T>G (p.Cys975Gly)
n.4191T>G
3g.47000114T=CA1362363025NBEAL2c.4015T= (p.Cys1339=)
c.3913T= (p.Cys1305=)
n.352T=
c.1960-82T=
c.487T= (p.Cys163=)
c.3934T= (p.Cys1312=)
c.3994T= (p.Cys1332=)
c.3646T= (p.Cys1216=)
c.3475T= (p.Cys1159=)
c.3361T= (p.Cys1121=)
c.2923T= (p.Cys975=)
n.4191T=
3g.47000115G>ACA352516732NBEAL2c.4016G>A (p.Cys1339Tyr)
c.3914G>A (p.Cys1305Tyr)
n.353G>A
c.1960-81G>A
c.488G>A (p.Cys163Tyr)
c.3935G>A (p.Cys1312Tyr)
c.3995G>A (p.Cys1332Tyr)
c.3647G>A (p.Cys1216Tyr)
c.3476G>A (p.Cys1159Tyr)
c.3362G>A (p.Cys1121Tyr)
c.2924G>A (p.Cys975Tyr)
n.4192G>A
3g.47000115G>CCA352516733NBEAL2c.4016G>C (p.Cys1339Ser)
c.3914G>C (p.Cys1305Ser)
n.353G>C
c.1960-81G>C
c.488G>C (p.Cys163Ser)
c.3935G>C (p.Cys1312Ser)
c.3995G>C (p.Cys1332Ser)
c.3647G>C (p.Cys1216Ser)
c.3476G>C (p.Cys1159Ser)
c.3362G>C (p.Cys1121Ser)
c.2924G>C (p.Cys975Ser)
n.4192G>C
3g.47000115G>TCA352516734NBEAL2c.4016G>T (p.Cys1339Phe)
c.3914G>T (p.Cys1305Phe)
n.353G>T
c.1960-81G>T
c.488G>T (p.Cys163Phe)
c.3935G>T (p.Cys1312Phe)
c.3995G>T (p.Cys1332Phe)
c.3647G>T (p.Cys1216Phe)
c.3476G>T (p.Cys1159Phe)
c.3362G>T (p.Cys1121Phe)
c.2924G>T (p.Cys975Phe)
n.4192G>T
3g.47000116C>ACA352516735NBEAL2c.4017C>A (p.Cys1339Ter)
c.3915C>A (p.Cys1305Ter)
n.354C>A
c.1960-80C>A
c.489C>A (p.Cys163Ter)
c.3936C>A (p.Cys1312Ter)
c.3996C>A (p.Cys1332Ter)
c.3648C>A (p.Cys1216Ter)
c.3477C>A (p.Cys1159Ter)
c.3363C>A (p.Cys1121Ter)
c.2925C>A (p.Cys975Ter)
n.4193C>A
3g.47000116C>GCA352516736NBEAL2c.4017C>G (p.Cys1339Trp)
c.3915C>G (p.Cys1305Trp)
n.354C>G
c.1960-80C>G
c.489C>G (p.Cys163Trp)
c.3936C>G (p.Cys1312Trp)
c.3996C>G (p.Cys1332Trp)
c.3648C>G (p.Cys1216Trp)
c.3477C>G (p.Cys1159Trp)
c.3363C>G (p.Cys1121Trp)
c.2925C>G (p.Cys975Trp)
n.4193C>G
3g.47000116C>TCA433598336NBEAL2c.4017C>T (p.Cys1339=)
c.3915C>T (p.Cys1305=)
n.354C>T
c.1960-80C>T
c.489C>T (p.Cys163=)
c.3936C>T (p.Cys1312=)
c.3996C>T (p.Cys1332=)
c.3648C>T (p.Cys1216=)
c.3477C>T (p.Cys1159=)
c.3363C>T (p.Cys1121=)
c.2925C>T (p.Cys975=)
n.4193C>T
3g.47000117C>ACA352516737NBEAL2c.4018C>A (p.Pro1340Thr)
c.3916C>A (p.Pro1306Thr)
n.355C>A
c.1960-79C>A
c.490C>A (p.Pro164Thr)
c.3937C>A (p.Pro1313Thr)
c.3997C>A (p.Pro1333Thr)
c.3649C>A (p.Pro1217Thr)
c.3478C>A (p.Pro1160Thr)
c.3364C>A (p.Pro1122Thr)
c.2926C>A (p.Pro976Thr)
n.4194C>A
3g.47000117C=CA1362363026NBEAL2c.4018C= (p.Pro1340=)
c.3916C= (p.Pro1306=)
n.355C=
c.1960-79C=
c.490C= (p.Pro164=)
c.3937C= (p.Pro1313=)
c.3997C= (p.Pro1333=)
c.3649C= (p.Pro1217=)
c.3478C= (p.Pro1160=)
c.3364C= (p.Pro1122=)
c.2926C= (p.Pro976=)
n.4194C=
3g.47000117C>GCA73817724NBEAL2c.4018C>G (p.Pro1340Ala)
c.3916C>G (p.Pro1306Ala)
n.355C>G
c.1960-79C>G
c.490C>G (p.Pro164Ala)
c.3937C>G (p.Pro1313Ala)
c.3997C>G (p.Pro1333Ala)
c.3649C>G (p.Pro1217Ala)
c.3478C>G (p.Pro1160Ala)
c.3364C>G (p.Pro1122Ala)
c.2926C>G (p.Pro976Ala)
n.4194C>G
 dbSNP gnomAD v4
3g.47000117C>TCA352516738NBEAL2c.4018C>T (p.Pro1340Ser)
c.3916C>T (p.Pro1306Ser)
n.355C>T
c.1960-79C>T
c.490C>T (p.Pro164Ser)
c.3937C>T (p.Pro1313Ser)
c.3997C>T (p.Pro1333Ser)
c.3649C>T (p.Pro1217Ser)
c.3478C>T (p.Pro1160Ser)
c.3364C>T (p.Pro1122Ser)
c.2926C>T (p.Pro976Ser)
n.4194C>T
3g.47000118C>ACA352516741NBEAL2c.4019C>A (p.Pro1340His)
c.3917C>A (p.Pro1306His)
n.356C>A
c.1960-78C>A
c.491C>A (p.Pro164His)
c.3938C>A (p.Pro1313His)
c.3998C>A (p.Pro1333His)
c.3650C>A (p.Pro1217His)
c.3479C>A (p.Pro1160His)
c.3365C>A (p.Pro1122His)
c.2927C>A (p.Pro976His)
n.4195C>A
3g.47000118C=CA1362363027NBEAL2c.4019C= (p.Pro1340=)
c.3917C= (p.Pro1306=)
n.356C=
c.1960-78C=
c.491C= (p.Pro164=)
c.3938C= (p.Pro1313=)
c.3998C= (p.Pro1333=)
c.3650C= (p.Pro1217=)
c.3479C= (p.Pro1160=)
c.3365C= (p.Pro1122=)
c.2927C= (p.Pro976=)
n.4195C=
3g.47000118C>GCA352516740NBEAL2c.4019C>G (p.Pro1340Arg)
c.3917C>G (p.Pro1306Arg)
n.356C>G
c.1960-78C>G
c.491C>G (p.Pro164Arg)
c.3938C>G (p.Pro1313Arg)
c.3998C>G (p.Pro1333Arg)
c.3650C>G (p.Pro1217Arg)
c.3479C>G (p.Pro1160Arg)
c.3365C>G (p.Pro1122Arg)
c.2927C>G (p.Pro976Arg)
n.4195C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000118C>TCA352516739NBEAL2c.4019C>T (p.Pro1340Leu)
c.3917C>T (p.Pro1306Leu)
n.356C>T
c.1960-78C>T
c.491C>T (p.Pro164Leu)
c.3938C>T (p.Pro1313Leu)
c.3998C>T (p.Pro1333Leu)
c.3650C>T (p.Pro1217Leu)
c.3479C>T (p.Pro1160Leu)
c.3365C>T (p.Pro1122Leu)
c.2927C>T (p.Pro976Leu)
n.4195C>T
3g.47000119T>ACA433598339NBEAL2c.4020T>A (p.Pro1340=)
c.3918T>A (p.Pro1306=)
n.357T>A
c.1960-77T>A
c.492T>A (p.Pro164=)
c.3939T>A (p.Pro1313=)
c.3999T>A (p.Pro1333=)
c.3651T>A (p.Pro1217=)
c.3480T>A (p.Pro1160=)
c.3366T>A (p.Pro1122=)
c.2928T>A (p.Pro976=)
n.4196T>A
3g.47000119T>CCA433598343NBEAL2c.4020T>C (p.Pro1340=)
c.3918T>C (p.Pro1306=)
n.357T>C
c.1960-77T>C
c.492T>C (p.Pro164=)
c.3939T>C (p.Pro1313=)
c.3999T>C (p.Pro1333=)
c.3651T>C (p.Pro1217=)
c.3480T>C (p.Pro1160=)
c.3366T>C (p.Pro1122=)
c.2928T>C (p.Pro976=)
n.4196T>C
3g.47000119T>GCA433598341NBEAL2c.4020T>G (p.Pro1340=)
c.3918T>G (p.Pro1306=)
n.357T>G
c.1960-77T>G
c.492T>G (p.Pro164=)
c.3939T>G (p.Pro1313=)
c.3999T>G (p.Pro1333=)
c.3651T>G (p.Pro1217=)
c.3480T>G (p.Pro1160=)
c.3366T>G (p.Pro1122=)
c.2928T>G (p.Pro976=)
n.4196T>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000119T=CA1362363028NBEAL2c.4020T= (p.Pro1340=)
c.3918T= (p.Pro1306=)
n.357T=
c.1960-77T=
c.492T= (p.Pro164=)
c.3939T= (p.Pro1313=)
c.3999T= (p.Pro1333=)
c.3651T= (p.Pro1217=)
c.3480T= (p.Pro1160=)
c.3366T= (p.Pro1122=)
c.2928T= (p.Pro976=)
n.4196T=
3g.47000120G>ACA352516742NBEAL2c.4021G>A (p.Asp1341Asn)
c.3919G>A (p.Asp1307Asn)
n.358G>A
c.1960-76G>A
c.493G>A (p.Asp165Asn)
c.3940G>A (p.Asp1314Asn)
c.4000G>A (p.Asp1334Asn)
c.3652G>A (p.Asp1218Asn)
c.3481G>A (p.Asp1161Asn)
c.3367G>A (p.Asp1123Asn)
c.2929G>A (p.Asp977Asn)
n.4197G>A
3g.47000120G>CCA352516743NBEAL2c.4021G>C (p.Asp1341His)
c.3919G>C (p.Asp1307His)
n.358G>C
c.1960-76G>C
c.493G>C (p.Asp165His)
c.3940G>C (p.Asp1314His)
c.4000G>C (p.Asp1334His)
c.3652G>C (p.Asp1218His)
c.3481G>C (p.Asp1161His)
c.3367G>C (p.Asp1123His)
c.2929G>C (p.Asp977His)
n.4197G>C
3g.47000120G>TCA352516744NBEAL2c.4021G>T (p.Asp1341Tyr)
c.3919G>T (p.Asp1307Tyr)
n.358G>T
c.1960-76G>T
c.493G>T (p.Asp165Tyr)
c.3940G>T (p.Asp1314Tyr)
c.4000G>T (p.Asp1334Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3481G>T (p.Asp1161Tyr)
c.3367G>T (p.Asp1123Tyr)
c.2929G>T (p.Asp977Tyr)
n.4197G>T
3g.47000121A=CA1362363029NBEAL2c.4022A= (p.Asp1341=)
c.3920A= (p.Asp1307=)
n.359A=
c.1960-75A=
c.494A= (p.Asp165=)
c.3941A= (p.Asp1314=)
c.4001A= (p.Asp1334=)
c.3653A= (p.Asp1218=)
c.3482A= (p.Asp1161=)
c.3368A= (p.Asp1123=)
c.2930A= (p.Asp977=)
n.4198A=
3g.47000121A>CCA352516745NBEAL2c.4022A>C (p.Asp1341Ala)
c.3920A>C (p.Asp1307Ala)
n.359A>C
c.1960-75A>C
c.494A>C (p.Asp165Ala)
c.3941A>C (p.Asp1314Ala)
c.4001A>C (p.Asp1334Ala)
c.3653A>C (p.Asp1218Ala)
c.3482A>C (p.Asp1161Ala)
c.3368A>C (p.Asp1123Ala)
c.2930A>C (p.Asp977Ala)
n.4198A>C
3g.47000121A>GCA352516746NBEAL2c.4022A>G (p.Asp1341Gly)
c.3920A>G (p.Asp1307Gly)
n.359A>G
c.1960-75A>G
c.494A>G (p.Asp165Gly)
c.3941A>G (p.Asp1314Gly)
c.4001A>G (p.Asp1334Gly)
c.3653A>G (p.Asp1218Gly)
c.3482A>G (p.Asp1161Gly)
c.3368A>G (p.Asp1123Gly)
c.2930A>G (p.Asp977Gly)
n.4198A>G
 dbSNP gnomAD v2
3g.47000121A>TCA352516747NBEAL2c.4022A>T (p.Asp1341Val)
c.3920A>T (p.Asp1307Val)
n.359A>T
c.1960-75A>T
c.494A>T (p.Asp165Val)
c.3941A>T (p.Asp1314Val)
c.4001A>T (p.Asp1334Val)
c.3653A>T (p.Asp1218Val)
c.3482A>T (p.Asp1161Val)
c.3368A>T (p.Asp1123Val)
c.2930A>T (p.Asp977Val)
n.4198A>T
3g.47000122C>ACA352516748NBEAL2c.4023C>A (p.Asp1341Glu)
c.3921C>A (p.Asp1307Glu)
n.360C>A
c.1960-74C>A
c.495C>A (p.Asp165Glu)
c.3942C>A (p.Asp1314Glu)
c.4002C>A (p.Asp1334Glu)
c.3654C>A (p.Asp1218Glu)
c.3483C>A (p.Asp1161Glu)
c.3369C>A (p.Asp1123Glu)
c.2931C>A (p.Asp977Glu)
n.4199C>A
3g.47000122C>GCA352516749NBEAL2c.4023C>G (p.Asp1341Glu)
c.3921C>G (p.Asp1307Glu)
n.360C>G
c.1960-74C>G
c.495C>G (p.Asp165Glu)
c.3942C>G (p.Asp1314Glu)
c.4002C>G (p.Asp1334Glu)
c.3654C>G (p.Asp1218Glu)
c.3483C>G (p.Asp1161Glu)
c.3369C>G (p.Asp1123Glu)
c.2931C>G (p.Asp977Glu)
n.4199C>G
3g.47000122C>TCA433598346NBEAL2c.4023C>T (p.Asp1341=)
c.3921C>T (p.Asp1307=)
n.360C>T
c.1960-74C>T
c.495C>T (p.Asp165=)
c.3942C>T (p.Asp1314=)
c.4002C>T (p.Asp1334=)
c.3654C>T (p.Asp1218=)
c.3483C>T (p.Asp1161=)
c.3369C>T (p.Asp1123=)
c.2931C>T (p.Asp977=)
n.4199C>T
 gnomAD v4
3g.47000123C>ACA352516750NBEAL2c.4024C>A (p.Pro1342Thr)
c.3922C>A (p.Pro1308Thr)
n.361C>A
c.1960-73C>A
c.496C>A (p.Pro166Thr)
c.3943C>A (p.Pro1315Thr)
c.4003C>A (p.Pro1335Thr)
c.3655C>A (p.Pro1219Thr)
c.3484C>A (p.Pro1162Thr)
c.3370C>A (p.Pro1124Thr)
c.2932C>A (p.Pro978Thr)
n.4200C>A
3g.47000123C>GCA352516751NBEAL2c.4024C>G (p.Pro1342Ala)
c.3922C>G (p.Pro1308Ala)
n.361C>G
c.1960-73C>G
c.496C>G (p.Pro166Ala)
c.3943C>G (p.Pro1315Ala)
c.4003C>G (p.Pro1335Ala)
c.3655C>G (p.Pro1219Ala)
c.3484C>G (p.Pro1162Ala)
c.3370C>G (p.Pro1124Ala)
c.2932C>G (p.Pro978Ala)
n.4200C>G
3g.47000123C>TCA352516752NBEAL2c.4024C>T (p.Pro1342Ser)
c.3922C>T (p.Pro1308Ser)
n.361C>T
c.1960-73C>T
c.496C>T (p.Pro166Ser)
c.3943C>T (p.Pro1315Ser)
c.4003C>T (p.Pro1335Ser)
c.3655C>T (p.Pro1219Ser)
c.3484C>T (p.Pro1162Ser)
c.3370C>T (p.Pro1124Ser)
c.2932C>T (p.Pro978Ser)
n.4200C>T
 dbSNP
3g.47000124C>ACA352516755NBEAL2c.4025C>A (p.Pro1342His)
c.3923C>A (p.Pro1308His)
n.362C>A
c.1960-72C>A
c.497C>A (p.Pro166His)
c.3944C>A (p.Pro1315His)
c.4004C>A (p.Pro1335His)
c.3656C>A (p.Pro1219His)
c.3485C>A (p.Pro1162His)
c.3371C>A (p.Pro1124His)
c.2933C>A (p.Pro978His)
n.4201C>A
3g.47000124C>GCA352516754NBEAL2c.4025C>G (p.Pro1342Arg)
c.3923C>G (p.Pro1308Arg)
n.362C>G
c.1960-72C>G
c.497C>G (p.Pro166Arg)
c.3944C>G (p.Pro1315Arg)
c.4004C>G (p.Pro1335Arg)
c.3656C>G (p.Pro1219Arg)
c.3485C>G (p.Pro1162Arg)
c.3371C>G (p.Pro1124Arg)
c.2933C>G (p.Pro978Arg)
n.4201C>G
3g.47000124C>TCA352516753NBEAL2c.4025C>T (p.Pro1342Leu)
c.3923C>T (p.Pro1308Leu)
n.362C>T
c.1960-72C>T
c.497C>T (p.Pro166Leu)
c.3944C>T (p.Pro1315Leu)
c.4004C>T (p.Pro1335Leu)
c.3656C>T (p.Pro1219Leu)
c.3485C>T (p.Pro1162Leu)
c.3371C>T (p.Pro1124Leu)
c.2933C>T (p.Pro978Leu)
n.4201C>T
3g.47000125T>ACA433598347NBEAL2c.4026T>A (p.Pro1342=)
c.3924T>A (p.Pro1308=)
n.363T>A
c.1960-71T>A
c.498T>A (p.Pro166=)
c.3945T>A (p.Pro1315=)
c.4005T>A (p.Pro1335=)
c.3657T>A (p.Pro1219=)
c.3486T>A (p.Pro1162=)
c.3372T>A (p.Pro1124=)
c.2934T>A (p.Pro978=)
n.4202T>A
3g.47000125T>CCA2361127NBEAL2c.4026T>C (p.Pro1342=)
c.3924T>C (p.Pro1308=)
n.363T>C
c.1960-71T>C
c.498T>C (p.Pro166=)
c.3945T>C (p.Pro1315=)
c.4005T>C (p.Pro1335=)
c.3657T>C (p.Pro1219=)
c.3486T>C (p.Pro1162=)
c.3372T>C (p.Pro1124=)
c.2934T>C (p.Pro978=)
n.4202T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000125T>GCA433598349NBEAL2c.4026T>G (p.Pro1342=)
c.3924T>G (p.Pro1308=)
n.363T>G
c.1960-71T>G
c.498T>G (p.Pro166=)
c.3945T>G (p.Pro1315=)
c.4005T>G (p.Pro1335=)
c.3657T>G (p.Pro1219=)
c.3486T>G (p.Pro1162=)
c.3372T>G (p.Pro1124=)
c.2934T>G (p.Pro978=)
n.4202T>G
3g.47000125T=CA1362363030NBEAL2c.4026T= (p.Pro1342=)
c.3924T= (p.Pro1308=)
n.363T=
c.1960-71T=
c.498T= (p.Pro166=)
c.3945T= (p.Pro1315=)
c.4005T= (p.Pro1335=)
c.3657T= (p.Pro1219=)
c.3486T= (p.Pro1162=)
c.3372T= (p.Pro1124=)
c.2934T= (p.Pro978=)
n.4202T=
3g.47000126G>ACA352516756NBEAL2c.4027G>A (p.Asp1343Asn)
c.3925G>A (p.Asp1309Asn)
n.364G>A
c.1960-70G>A
c.499G>A (p.Asp167Asn)
c.3946G>A (p.Asp1316Asn)
c.4006G>A (p.Asp1336Asn)
c.3658G>A (p.Asp1220Asn)
c.3487G>A (p.Asp1163Asn)
c.3373G>A (p.Asp1125Asn)
c.2935G>A (p.Asp979Asn)
n.4203G>A
 dbSNP gnomAD v4
3g.47000126G>CCA352516757NBEAL2c.4027G>C (p.Asp1343His)
c.3925G>C (p.Asp1309His)
n.364G>C
c.1960-70G>C
c.499G>C (p.Asp167His)
c.3946G>C (p.Asp1316His)
c.4006G>C (p.Asp1336His)
c.3658G>C (p.Asp1220His)
c.3487G>C (p.Asp1163His)
c.3373G>C (p.Asp1125His)
c.2935G>C (p.Asp979His)
n.4203G>C
3g.47000126G=CA1362363031NBEAL2c.4027G= (p.Asp1343=)
c.3925G= (p.Asp1309=)
n.364G=
c.1960-70G=
c.499G= (p.Asp167=)
c.3946G= (p.Asp1316=)
c.4006G= (p.Asp1336=)
c.3658G= (p.Asp1220=)
c.3487G= (p.Asp1163=)
c.3373G= (p.Asp1125=)
c.2935G= (p.Asp979=)
n.4203G=
3g.47000126G>TCA352516758NBEAL2c.4027G>T (p.Asp1343Tyr)
c.3925G>T (p.Asp1309Tyr)
n.364G>T
c.1960-70G>T
c.499G>T (p.Asp167Tyr)
c.3946G>T (p.Asp1316Tyr)
c.4006G>T (p.Asp1336Tyr)
c.3658G>T (p.Asp1220Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3373G>T (p.Asp1125Tyr)
c.2935G>T (p.Asp979Tyr)
n.4203G>T
3g.47000127A>CCA352516759NBEAL2c.4028A>C (p.Asp1343Ala)
c.3926A>C (p.Asp1309Ala)
n.365A>C
c.1960-69A>C
c.500A>C (p.Asp167Ala)
c.3947A>C (p.Asp1316Ala)
c.4007A>C (p.Asp1336Ala)
c.3659A>C (p.Asp1220Ala)
c.3488A>C (p.Asp1163Ala)
c.3374A>C (p.Asp1125Ala)
c.2936A>C (p.Asp979Ala)
n.4204A>C
3g.47000127A>GCA352516760NBEAL2c.4028A>G (p.Asp1343Gly)
c.3926A>G (p.Asp1309Gly)
n.365A>G
c.1960-69A>G
c.500A>G (p.Asp167Gly)
c.3947A>G (p.Asp1316Gly)
c.4007A>G (p.Asp1336Gly)
c.3659A>G (p.Asp1220Gly)
c.3488A>G (p.Asp1163Gly)
c.3374A>G (p.Asp1125Gly)
c.2936A>G (p.Asp979Gly)
n.4204A>G
3g.47000127A>TCA352516761NBEAL2c.4028A>T (p.Asp1343Val)
c.3926A>T (p.Asp1309Val)
n.365A>T
c.1960-69A>T
c.500A>T (p.Asp167Val)
c.3947A>T (p.Asp1316Val)
c.4007A>T (p.Asp1336Val)
c.3659A>T (p.Asp1220Val)
c.3488A>T (p.Asp1163Val)
c.3374A>T (p.Asp1125Val)
c.2936A>T (p.Asp979Val)
n.4204A>T
3g.47000127dupCA2577577260NBEAL2c.4028dup (p.Asp1343GlufsTer15)
c.3926dup (p.Asp1309GlufsTer15)
n.365dup
c.1960-69dup
c.500dup (p.Asp167GlufsTer15)
c.3947dup (p.Asp1316GlufsTer15)
c.4007dup (p.Asp1336GlufsTer15)
c.3659dup (p.Asp1220GlufsTer15)
c.3488dup (p.Asp1163GlufsTer15)
c.3374dup (p.Asp1125GlufsTer15)
c.2936dup (p.Asp979GlufsTer15)
n.4204dup
 gnomAD v4
3g.47000128T>ACA352516762NBEAL2c.4029T>A (p.Asp1343Glu)
c.3927T>A (p.Asp1309Glu)
n.366T>A
c.1960-68T>A
c.501T>A (p.Asp167Glu)
c.3948T>A (p.Asp1316Glu)
c.4008T>A (p.Asp1336Glu)
c.3660T>A (p.Asp1220Glu)
c.3489T>A (p.Asp1163Glu)
c.3375T>A (p.Asp1125Glu)
c.2937T>A (p.Asp979Glu)
n.4205T>A
3g.47000128T>CCA2361128NBEAL2c.4029T>C (p.Asp1343=)
c.3927T>C (p.Asp1309=)
n.366T>C
c.1960-68T>C
c.501T>C (p.Asp167=)
c.3948T>C (p.Asp1316=)
c.4008T>C (p.Asp1336=)
c.3660T>C (p.Asp1220=)
c.3489T>C (p.Asp1163=)
c.3375T>C (p.Asp1125=)
c.2937T>C (p.Asp979=)
n.4205T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000128T>GCA352516763NBEAL2c.4029T>G (p.Asp1343Glu)
c.3927T>G (p.Asp1309Glu)
n.366T>G
c.1960-68T>G
c.501T>G (p.Asp167Glu)
c.3948T>G (p.Asp1316Glu)
c.4008T>G (p.Asp1336Glu)
c.3660T>G (p.Asp1220Glu)
c.3489T>G (p.Asp1163Glu)
c.3375T>G (p.Asp1125Glu)
c.2937T>G (p.Asp979Glu)
n.4205T>G
3g.47000128T=CA1362363032NBEAL2c.4029T= (p.Asp1343=)
c.3927T= (p.Asp1309=)
n.366T=
c.1960-68T=
c.501T= (p.Asp167=)
c.3948T= (p.Asp1316=)
c.4008T= (p.Asp1336=)
c.3660T= (p.Asp1220=)
c.3489T= (p.Asp1163=)
c.3375T= (p.Asp1125=)
c.2937T= (p.Asp979=)
n.4205T=
3g.47000129G>ACA352516764NBEAL2c.4030G>A (p.Gly1344Ser)
c.3928G>A (p.Gly1310Ser)
n.367G>A
c.1960-67G>A
c.502G>A (p.Gly168Ser)
c.3949G>A (p.Gly1317Ser)
c.4009G>A (p.Gly1337Ser)
c.3661G>A (p.Gly1221Ser)
c.3490G>A (p.Gly1164Ser)
c.3376G>A (p.Gly1126Ser)
c.2938G>A (p.Gly980Ser)
n.4206G>A
3g.47000129G>CCA352516765NBEAL2c.4030G>C (p.Gly1344Arg)
c.3928G>C (p.Gly1310Arg)
n.367G>C
c.1960-67G>C
c.502G>C (p.Gly168Arg)
c.3949G>C (p.Gly1317Arg)
c.4009G>C (p.Gly1337Arg)
c.3661G>C (p.Gly1221Arg)
c.3490G>C (p.Gly1164Arg)
c.3376G>C (p.Gly1126Arg)
c.2938G>C (p.Gly980Arg)
n.4206G>C
3g.47000129G>TCA352516766NBEAL2c.4030G>T (p.Gly1344Cys)
c.3928G>T (p.Gly1310Cys)
n.367G>T
c.1960-67G>T
c.502G>T (p.Gly168Cys)
c.3949G>T (p.Gly1317Cys)
c.4009G>T (p.Gly1337Cys)
c.3661G>T (p.Gly1221Cys)
c.3490G>T (p.Gly1164Cys)
c.3376G>T (p.Gly1126Cys)
c.2938G>T (p.Gly980Cys)
n.4206G>T
3g.47000130G>ACA352516769NBEAL2c.4031G>A (p.Gly1344Asp)
c.3929G>A (p.Gly1310Asp)
n.368G>A
c.1960-66G>A
c.503G>A (p.Gly168Asp)
c.3950G>A (p.Gly1317Asp)
c.4010G>A (p.Gly1337Asp)
c.3662G>A (p.Gly1221Asp)
c.3491G>A (p.Gly1164Asp)
c.3377G>A (p.Gly1126Asp)
c.2939G>A (p.Gly980Asp)
n.4207G>A
3g.47000130G>CCA352516767NBEAL2c.4031G>C (p.Gly1344Ala)
c.3929G>C (p.Gly1310Ala)
n.368G>C
c.1960-66G>C
c.503G>C (p.Gly168Ala)
c.3950G>C (p.Gly1317Ala)
c.4010G>C (p.Gly1337Ala)
c.3662G>C (p.Gly1221Ala)
c.3491G>C (p.Gly1164Ala)
c.3377G>C (p.Gly1126Ala)
c.2939G>C (p.Gly980Ala)
n.4207G>C
3g.47000130G>TCA352516768NBEAL2c.4031G>T (p.Gly1344Val)
c.3929G>T (p.Gly1310Val)
n.368G>T
c.1960-66G>T
c.503G>T (p.Gly168Val)
c.3950G>T (p.Gly1317Val)
c.4010G>T (p.Gly1337Val)
c.3662G>T (p.Gly1221Val)
c.3491G>T (p.Gly1164Val)
c.3377G>T (p.Gly1126Val)
c.2939G>T (p.Gly980Val)
n.4207G>T
3g.47000131C>ACA433598355NBEAL2c.4032C>A (p.Gly1344=)
c.3930C>A (p.Gly1310=)
n.369C>A
c.1960-65C>A
c.504C>A (p.Gly168=)
c.3951C>A (p.Gly1317=)
c.4011C>A (p.Gly1337=)
c.3663C>A (p.Gly1221=)
c.3492C>A (p.Gly1164=)
c.3378C>A (p.Gly1126=)
c.2940C>A (p.Gly980=)
n.4208C>A
3g.47000131C=CA1362363033NBEAL2c.4032C= (p.Gly1344=)
c.3930C= (p.Gly1310=)
n.369C=
c.1960-65C=
c.504C= (p.Gly168=)
c.3951C= (p.Gly1317=)
c.4011C= (p.Gly1337=)
c.3663C= (p.Gly1221=)
c.3492C= (p.Gly1164=)
c.3378C= (p.Gly1126=)
c.2940C= (p.Gly980=)
n.4208C=
3g.47000131C>GCA433598356NBEAL2c.4032C>G (p.Gly1344=)
c.3930C>G (p.Gly1310=)
n.369C>G
c.1960-65C>G
c.504C>G (p.Gly168=)
c.3951C>G (p.Gly1317=)
c.4011C>G (p.Gly1337=)
c.3663C>G (p.Gly1221=)
c.3492C>G (p.Gly1164=)
c.3378C>G (p.Gly1126=)
c.2940C>G (p.Gly980=)
n.4208C>G
3g.47000131C>TCA2361129NBEAL2c.4032C>T (p.Gly1344=)
c.3930C>T (p.Gly1310=)
n.369C>T
c.1960-65C>T
c.504C>T (p.Gly168=)
c.3951C>T (p.Gly1317=)
c.4011C>T (p.Gly1337=)
c.3663C>T (p.Gly1221=)
c.3492C>T (p.Gly1164=)
c.3378C>T (p.Gly1126=)
c.2940C>T (p.Gly980=)
n.4208C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.47000132T>ACA352516770NBEAL2c.4033T>A (p.Phe1345Ile)
c.3931T>A (p.Phe1311Ile)
n.370T>A
c.1960-64T>A
c.505T>A (p.Phe169Ile)
c.3952T>A (p.Phe1318Ile)
c.4012T>A (p.Phe1338Ile)
c.3664T>A (p.Phe1222Ile)
c.3493T>A (p.Phe1165Ile)
c.3379T>A (p.Phe1127Ile)
c.2941T>A (p.Phe981Ile)
n.4209T>A
 gnomAD v4
3g.47000132T>CCA352516771NBEAL2c.4033T>C (p.Phe1345Leu)
c.3931T>C (p.Phe1311Leu)
n.370T>C
c.1960-64T>C
c.505T>C (p.Phe169Leu)
c.3952T>C (p.Phe1318Leu)
c.4012T>C (p.Phe1338Leu)
c.3664T>C (p.Phe1222Leu)
c.3493T>C (p.Phe1165Leu)
c.3379T>C (p.Phe1127Leu)
c.2941T>C (p.Phe981Leu)
n.4209T>C
3g.47000132T>GCA352516772NBEAL2c.4033T>G (p.Phe1345Val)
c.3931T>G (p.Phe1311Val)
n.370T>G
c.1960-64T>G
c.505T>G (p.Phe169Val)
c.3952T>G (p.Phe1318Val)
c.4012T>G (p.Phe1338Val)
c.3664T>G (p.Phe1222Val)
c.3493T>G (p.Phe1165Val)
c.3379T>G (p.Phe1127Val)
c.2941T>G (p.Phe981Val)
n.4209T>G
3g.47000135delCA433598359NBEAL2c.4036del (p.Tyr1346ThrfsTer20)
c.3934del (p.Tyr1312ThrfsTer20)
n.373del
c.1960-61del
c.508del (p.Tyr170ThrfsTer20)
c.3955del (p.Tyr1319ThrfsTer20)
c.4015del (p.Tyr1339ThrfsTer20)
c.3667del (p.Tyr1223ThrfsTer20)
c.3496del (p.Tyr1166ThrfsTer20)
c.3382del (p.Tyr1128ThrfsTer20)
c.2944del (p.Tyr982ThrfsTer20)
n.4212del
 COSMIC

Number of alleles fetched