Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46999920_47000275del | CA913187439 | NBEAL2 | c.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 | |
3 | g.46999995_47000021dup | CA1047549616 | NBEAL2 | c.3896_3922dup (p.Pro1307_Glu1308insAlaGlySerProProProSerSerPro) c.3794_3820dup (p.Pro1273_Glu1274insAlaGlySerProProProSerSerPro) n.233_259dup c.1960-201_1960-175dup c.368_394dup (p.Pro131_Glu132insAlaGlySerProProProSerSerPro) c.3815_3841dup (p.Pro1280_Glu1281insAlaGlySerProProProSerSerPro) c.3875_3901dup (p.Pro1300_Glu1301insAlaGlySerProProProSerSerPro) c.3527_3553dup (p.Pro1184_Glu1185insAlaGlySerProProProSerSerPro) c.3356_3382dup (p.Pro1127_Glu1128insAlaGlySerProProProSerSerPro) c.3242_3268dup (p.Pro1089_Glu1090insAlaGlySerProProProSerSerPro) c.2804_2830dup (p.Pro943_Glu944insAlaGlySerProProProSerSerPro) n.4072_4098dup | gnomAD v3 gnomAD v4 |
3 | g.47000014T>A | CA433598189 | NBEAL2 | c.3915T>A (p.Ser1305=) c.3813T>A (p.Ser1271=) n.252T>A c.1960-182T>A c.387T>A (p.Ser129=) c.3834T>A (p.Ser1278=) c.3894T>A (p.Ser1298=) c.3546T>A (p.Ser1182=) c.3375T>A (p.Ser1125=) c.3261T>A (p.Ser1087=) c.2823T>A (p.Ser941=) n.4091T>A | |
3 | g.47000014T>C | CA433598190 | NBEAL2 | c.3915T>C (p.Ser1305=) c.3813T>C (p.Ser1271=) n.252T>C c.1960-182T>C c.387T>C (p.Ser129=) c.3834T>C (p.Ser1278=) c.3894T>C (p.Ser1298=) c.3546T>C (p.Ser1182=) c.3375T>C (p.Ser1125=) c.3261T>C (p.Ser1087=) c.2823T>C (p.Ser941=) n.4091T>C | |
3 | g.47000014T>G | CA433598191 | NBEAL2 | c.3915T>G (p.Ser1305=) c.3813T>G (p.Ser1271=) n.252T>G c.1960-182T>G c.387T>G (p.Ser129=) c.3834T>G (p.Ser1278=) c.3894T>G (p.Ser1298=) c.3546T>G (p.Ser1182=) c.3375T>G (p.Ser1125=) c.3261T>G (p.Ser1087=) c.2823T>G (p.Ser941=) n.4091T>G | |
3 | g.47000015T>A | CA352516343 | NBEAL2 | c.3916T>A (p.Ser1306Thr) c.3814T>A (p.Ser1272Thr) n.253T>A c.1960-181T>A c.388T>A (p.Ser130Thr) c.3835T>A (p.Ser1279Thr) c.3895T>A (p.Ser1299Thr) c.3547T>A (p.Ser1183Thr) c.3376T>A (p.Ser1126Thr) c.3262T>A (p.Ser1088Thr) c.2824T>A (p.Ser942Thr) n.4092T>A | |
3 | g.47000015T>C | CA352516344 | NBEAL2 | c.3916T>C (p.Ser1306Pro) c.3814T>C (p.Ser1272Pro) n.253T>C c.1960-181T>C c.388T>C (p.Ser130Pro) c.3835T>C (p.Ser1279Pro) c.3895T>C (p.Ser1299Pro) c.3547T>C (p.Ser1183Pro) c.3376T>C (p.Ser1126Pro) c.3262T>C (p.Ser1088Pro) c.2824T>C (p.Ser942Pro) n.4092T>C | |
3 | g.47000015T>G | CA352516345 | NBEAL2 | c.3916T>G (p.Ser1306Ala) c.3814T>G (p.Ser1272Ala) n.253T>G c.1960-181T>G c.388T>G (p.Ser130Ala) c.3835T>G (p.Ser1279Ala) c.3895T>G (p.Ser1299Ala) c.3547T>G (p.Ser1183Ala) c.3376T>G (p.Ser1126Ala) c.3262T>G (p.Ser1088Ala) c.2824T>G (p.Ser942Ala) n.4092T>G | |
3 | g.47000016C>A | CA352516346 | NBEAL2 | c.3917C>A (p.Ser1306Tyr) c.3815C>A (p.Ser1272Tyr) n.254C>A c.1960-180C>A c.389C>A (p.Ser130Tyr) c.3836C>A (p.Ser1279Tyr) c.3896C>A (p.Ser1299Tyr) c.3548C>A (p.Ser1183Tyr) c.3377C>A (p.Ser1126Tyr) c.3263C>A (p.Ser1088Tyr) c.2825C>A (p.Ser942Tyr) n.4093C>A | |
3 | g.47000016C>G | CA352516347 | NBEAL2 | c.3917C>G (p.Ser1306Cys) c.3815C>G (p.Ser1272Cys) n.254C>G c.1960-180C>G c.389C>G (p.Ser130Cys) c.3836C>G (p.Ser1279Cys) c.3896C>G (p.Ser1299Cys) c.3548C>G (p.Ser1183Cys) c.3377C>G (p.Ser1126Cys) c.3263C>G (p.Ser1088Cys) c.2825C>G (p.Ser942Cys) n.4093C>G | |
3 | g.47000016C>T | CA352516348 | NBEAL2 | c.3917C>T (p.Ser1306Phe) c.3815C>T (p.Ser1272Phe) n.254C>T c.1960-180C>T c.389C>T (p.Ser130Phe) c.3836C>T (p.Ser1279Phe) c.3896C>T (p.Ser1299Phe) c.3548C>T (p.Ser1183Phe) c.3377C>T (p.Ser1126Phe) c.3263C>T (p.Ser1088Phe) c.2825C>T (p.Ser942Phe) n.4093C>T | |
3 | g.47000019del | CA2665493218 | NBEAL2 | c.3920del (p.Pro1307GlnfsTer?) c.3818del (p.Pro1273GlnfsTer?) n.257del c.1960-177del c.392del (p.Pro131GlnfsTer?) c.3839del (p.Pro1280GlnfsTer?) c.3899del (p.Pro1300GlnfsTer?) c.3551del (p.Pro1184GlnfsTer?) c.3380del (p.Pro1127GlnfsTer?) c.3266del (p.Pro1089GlnfsTer?) c.2828del (p.Pro943GlnfsTer?) n.4096del | ClinVar gnomAD v4 |
3 | g.47000017C>A | CA433598192 | NBEAL2 | c.3918C>A (p.Ser1306=) c.3816C>A (p.Ser1272=) n.255C>A c.1960-179C>A c.390C>A (p.Ser130=) c.3837C>A (p.Ser1279=) c.3897C>A (p.Ser1299=) c.3549C>A (p.Ser1183=) c.3378C>A (p.Ser1126=) c.3264C>A (p.Ser1088=) c.2826C>A (p.Ser942=) n.4094C>A | |
3 | g.47000017C= | CA1362362974 | NBEAL2 | c.3918C= (p.Ser1306=) c.3816C= (p.Ser1272=) n.255C= c.1960-179C= c.390C= (p.Ser130=) c.3837C= (p.Ser1279=) c.3897C= (p.Ser1299=) c.3549C= (p.Ser1183=) c.3378C= (p.Ser1126=) c.3264C= (p.Ser1088=) c.2826C= (p.Ser942=) n.4094C= | |
3 | g.47000017C>G | CA433598193 | NBEAL2 | c.3918C>G (p.Ser1306=) c.3816C>G (p.Ser1272=) n.255C>G c.1960-179C>G c.390C>G (p.Ser130=) c.3837C>G (p.Ser1279=) c.3897C>G (p.Ser1299=) c.3549C>G (p.Ser1183=) c.3378C>G (p.Ser1126=) c.3264C>G (p.Ser1088=) c.2826C>G (p.Ser942=) n.4094C>G | |
3 | g.47000017C>T | CA2361109 | NBEAL2 | c.3918C>T (p.Ser1306=) c.3816C>T (p.Ser1272=) n.255C>T c.1960-179C>T c.390C>T (p.Ser130=) c.3837C>T (p.Ser1279=) c.3897C>T (p.Ser1299=) c.3549C>T (p.Ser1183=) c.3378C>T (p.Ser1126=) c.3264C>T (p.Ser1088=) c.2826C>T (p.Ser942=) n.4094C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000018C>A | CA352516350 | NBEAL2 | c.3919C>A (p.Pro1307Thr) c.3817C>A (p.Pro1273Thr) n.256C>A c.1960-178C>A c.391C>A (p.Pro131Thr) c.3838C>A (p.Pro1280Thr) c.3898C>A (p.Pro1300Thr) c.3550C>A (p.Pro1184Thr) c.3379C>A (p.Pro1127Thr) c.3265C>A (p.Pro1089Thr) c.2827C>A (p.Pro943Thr) n.4095C>A | |
3 | g.47000018C= | CA1362362975 | NBEAL2 | c.3919C= (p.Pro1307=) c.3817C= (p.Pro1273=) n.256C= c.1960-178C= c.391C= (p.Pro131=) c.3838C= (p.Pro1280=) c.3898C= (p.Pro1300=) c.3550C= (p.Pro1184=) c.3379C= (p.Pro1127=) c.3265C= (p.Pro1089=) c.2827C= (p.Pro943=) n.4095C= | |
3 | g.47000018C>G | CA352516349 | NBEAL2 | c.3919C>G (p.Pro1307Ala) c.3817C>G (p.Pro1273Ala) n.256C>G c.1960-178C>G c.391C>G (p.Pro131Ala) c.3838C>G (p.Pro1280Ala) c.3898C>G (p.Pro1300Ala) c.3550C>G (p.Pro1184Ala) c.3379C>G (p.Pro1127Ala) c.3265C>G (p.Pro1089Ala) c.2827C>G (p.Pro943Ala) n.4095C>G | |
3 | g.47000018C>T | CA2361110 | NBEAL2 | c.3919C>T (p.Pro1307Ser) c.3817C>T (p.Pro1273Ser) n.256C>T c.1960-178C>T c.391C>T (p.Pro131Ser) c.3838C>T (p.Pro1280Ser) c.3898C>T (p.Pro1300Ser) c.3550C>T (p.Pro1184Ser) c.3379C>T (p.Pro1127Ser) c.3265C>T (p.Pro1089Ser) c.2827C>T (p.Pro943Ser) n.4095C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000019C>A | CA352516351 | NBEAL2 | c.3920C>A (p.Pro1307Gln) c.3818C>A (p.Pro1273Gln) n.257C>A c.1960-177C>A c.392C>A (p.Pro131Gln) c.3839C>A (p.Pro1280Gln) c.3899C>A (p.Pro1300Gln) c.3551C>A (p.Pro1184Gln) c.3380C>A (p.Pro1127Gln) c.3266C>A (p.Pro1089Gln) c.2828C>A (p.Pro943Gln) n.4096C>A | |
3 | g.47000019C>G | CA352516353 | NBEAL2 | c.3920C>G (p.Pro1307Arg) c.3818C>G (p.Pro1273Arg) n.257C>G c.1960-177C>G c.392C>G (p.Pro131Arg) c.3839C>G (p.Pro1280Arg) c.3899C>G (p.Pro1300Arg) c.3551C>G (p.Pro1184Arg) c.3380C>G (p.Pro1127Arg) c.3266C>G (p.Pro1089Arg) c.2828C>G (p.Pro943Arg) n.4096C>G | |
3 | g.47000019C>T | CA352516354 | NBEAL2 | c.3920C>T (p.Pro1307Leu) c.3818C>T (p.Pro1273Leu) n.257C>T c.1960-177C>T c.392C>T (p.Pro131Leu) c.3839C>T (p.Pro1280Leu) c.3899C>T (p.Pro1300Leu) c.3551C>T (p.Pro1184Leu) c.3380C>T (p.Pro1127Leu) c.3266C>T (p.Pro1089Leu) c.2828C>T (p.Pro943Leu) n.4096C>T | |
3 | g.47000020_47000031del | CA2665493219 | NBEAL2 | c.3921_3932del (p.Glu1308_Thr1311del) c.3819_3830del (p.Glu1274_Thr1277del) n.258_269del c.1960-176_1960-165del c.393_404del (p.Glu132_Thr135del) c.3840_3851del (p.Glu1281_Thr1284del) c.3900_3911del (p.Glu1301_Thr1304del) c.3552_3563del (p.Glu1185_Thr1188del) c.3381_3392del (p.Glu1128_Thr1131del) c.3267_3278del (p.Glu1090_Thr1093del) c.2829_2840del (p.Glu944_Thr947del) n.4097_4108del | gnomAD v4 |
3 | g.47000020A= | CA1362362976 | NBEAL2 | c.3921A= (p.Pro1307=) c.3819A= (p.Pro1273=) n.258A= c.1960-176A= c.393A= (p.Pro131=) c.3840A= (p.Pro1280=) c.3900A= (p.Pro1300=) c.3552A= (p.Pro1184=) c.3381A= (p.Pro1127=) c.3267A= (p.Pro1089=) c.2829A= (p.Pro943=) n.4097A= | |
3 | g.47000020A>C | CA433598194 | NBEAL2 | c.3921A>C (p.Pro1307=) c.3819A>C (p.Pro1273=) n.258A>C c.1960-176A>C c.393A>C (p.Pro131=) c.3840A>C (p.Pro1280=) c.3900A>C (p.Pro1300=) c.3552A>C (p.Pro1184=) c.3381A>C (p.Pro1127=) c.3267A>C (p.Pro1089=) c.2829A>C (p.Pro943=) n.4097A>C | gnomAD v3 gnomAD v4 |
3 | g.47000020A>G | CA2361111 | NBEAL2 | c.3921A>G (p.Pro1307=) c.3819A>G (p.Pro1273=) n.258A>G c.1960-176A>G c.393A>G (p.Pro131=) c.3840A>G (p.Pro1280=) c.3900A>G (p.Pro1300=) c.3552A>G (p.Pro1184=) c.3381A>G (p.Pro1127=) c.3267A>G (p.Pro1089=) c.2829A>G (p.Pro943=) n.4097A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000020A>T | CA433598195 | NBEAL2 | c.3921A>T (p.Pro1307=) c.3819A>T (p.Pro1273=) n.258A>T c.1960-176A>T c.393A>T (p.Pro131=) c.3840A>T (p.Pro1280=) c.3900A>T (p.Pro1300=) c.3552A>T (p.Pro1184=) c.3381A>T (p.Pro1127=) c.3267A>T (p.Pro1089=) c.2829A>T (p.Pro943=) n.4097A>T | |
3 | g.47000021G>A | CA352516359 | NBEAL2 | c.3922G>A (p.Glu1308Lys) c.3820G>A (p.Glu1274Lys) n.259G>A c.1960-175G>A c.394G>A (p.Glu132Lys) c.3841G>A (p.Glu1281Lys) c.3901G>A (p.Glu1301Lys) c.3553G>A (p.Glu1185Lys) c.3382G>A (p.Glu1128Lys) c.3268G>A (p.Glu1090Lys) c.2830G>A (p.Glu944Lys) n.4098G>A | |
3 | g.47000021G>C | CA352516360 | NBEAL2 | c.3922G>C (p.Glu1308Gln) c.3820G>C (p.Glu1274Gln) n.259G>C c.1960-175G>C c.394G>C (p.Glu132Gln) c.3841G>C (p.Glu1281Gln) c.3901G>C (p.Glu1301Gln) c.3553G>C (p.Glu1185Gln) c.3382G>C (p.Glu1128Gln) c.3268G>C (p.Glu1090Gln) c.2830G>C (p.Glu944Gln) n.4098G>C | |
3 | g.47000021G>T | CA352516362 | NBEAL2 | c.3922G>T (p.Glu1308Ter) c.3820G>T (p.Glu1274Ter) n.259G>T c.1960-175G>T c.394G>T (p.Glu132Ter) c.3841G>T (p.Glu1281Ter) c.3901G>T (p.Glu1301Ter) c.3553G>T (p.Glu1185Ter) c.3382G>T (p.Glu1128Ter) c.3268G>T (p.Glu1090Ter) c.2830G>T (p.Glu944Ter) n.4098G>T | |
3 | g.47000022A= | CA1362362977 | NBEAL2 | c.3923A= (p.Glu1308=) c.3821A= (p.Glu1274=) n.260A= c.1960-174A= c.395A= (p.Glu132=) c.3842A= (p.Glu1281=) c.3902A= (p.Glu1301=) c.3554A= (p.Glu1185=) c.3383A= (p.Glu1128=) c.3269A= (p.Glu1090=) c.2831A= (p.Glu944=) n.4099A= | |
3 | g.47000022A>C | CA2361112 | NBEAL2 | c.3923A>C (p.Glu1308Ala) c.3821A>C (p.Glu1274Ala) n.260A>C c.1960-174A>C c.395A>C (p.Glu132Ala) c.3842A>C (p.Glu1281Ala) c.3902A>C (p.Glu1301Ala) c.3554A>C (p.Glu1185Ala) c.3383A>C (p.Glu1128Ala) c.3269A>C (p.Glu1090Ala) c.2831A>C (p.Glu944Ala) n.4099A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000022A>G | CA352516365 | NBEAL2 | c.3923A>G (p.Glu1308Gly) c.3821A>G (p.Glu1274Gly) n.260A>G c.1960-174A>G c.395A>G (p.Glu132Gly) c.3842A>G (p.Glu1281Gly) c.3902A>G (p.Glu1301Gly) c.3554A>G (p.Glu1185Gly) c.3383A>G (p.Glu1128Gly) c.3269A>G (p.Glu1090Gly) c.2831A>G (p.Glu944Gly) n.4099A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000022A>T | CA352516366 | NBEAL2 | c.3923A>T (p.Glu1308Val) c.3821A>T (p.Glu1274Val) n.260A>T c.1960-174A>T c.395A>T (p.Glu132Val) c.3842A>T (p.Glu1281Val) c.3902A>T (p.Glu1301Val) c.3554A>T (p.Glu1185Val) c.3383A>T (p.Glu1128Val) c.3269A>T (p.Glu1090Val) c.2831A>T (p.Glu944Val) n.4099A>T | |
3 | g.47000023G>A | CA433598196 | NBEAL2 | c.3924G>A (p.Glu1308=) c.3822G>A (p.Glu1274=) n.261G>A c.1960-173G>A c.396G>A (p.Glu132=) c.3843G>A (p.Glu1281=) c.3903G>A (p.Glu1301=) c.3555G>A (p.Glu1185=) c.3384G>A (p.Glu1128=) c.3270G>A (p.Glu1090=) c.2832G>A (p.Glu944=) n.4100G>A | dbSNP gnomAD v4 |
3 | g.47000023G>C | CA352516368 | NBEAL2 | c.3924G>C (p.Glu1308Asp) c.3822G>C (p.Glu1274Asp) n.261G>C c.1960-173G>C c.396G>C (p.Glu132Asp) c.3843G>C (p.Glu1281Asp) c.3903G>C (p.Glu1301Asp) c.3555G>C (p.Glu1185Asp) c.3384G>C (p.Glu1128Asp) c.3270G>C (p.Glu1090Asp) c.2832G>C (p.Glu944Asp) n.4100G>C | |
3 | g.47000023G= | CA1362362978 | NBEAL2 | c.3924G= (p.Glu1308=) c.3822G= (p.Glu1274=) n.261G= c.1960-173G= c.396G= (p.Glu132=) c.3843G= (p.Glu1281=) c.3903G= (p.Glu1301=) c.3555G= (p.Glu1185=) c.3384G= (p.Glu1128=) c.3270G= (p.Glu1090=) c.2832G= (p.Glu944=) n.4100G= | |
3 | g.47000023G>T | CA352516370 | NBEAL2 | c.3924G>T (p.Glu1308Asp) c.3822G>T (p.Glu1274Asp) n.261G>T c.1960-173G>T c.396G>T (p.Glu132Asp) c.3843G>T (p.Glu1281Asp) c.3903G>T (p.Glu1301Asp) c.3555G>T (p.Glu1185Asp) c.3384G>T (p.Glu1128Asp) c.3270G>T (p.Glu1090Asp) c.2832G>T (p.Glu944Asp) n.4100G>T | gnomAD v4 |
3 | g.47000024T>A | CA352516373 | NBEAL2 | c.3925T>A (p.Ser1309Thr) c.3823T>A (p.Ser1275Thr) n.262T>A c.1960-172T>A c.397T>A (p.Ser133Thr) c.3844T>A (p.Ser1282Thr) c.3904T>A (p.Ser1302Thr) c.3556T>A (p.Ser1186Thr) c.3385T>A (p.Ser1129Thr) c.3271T>A (p.Ser1091Thr) c.2833T>A (p.Ser945Thr) n.4101T>A | |
3 | g.47000024T>C | CA352516377 | NBEAL2 | c.3925T>C (p.Ser1309Pro) c.3823T>C (p.Ser1275Pro) n.262T>C c.1960-172T>C c.397T>C (p.Ser133Pro) c.3844T>C (p.Ser1282Pro) c.3904T>C (p.Ser1302Pro) c.3556T>C (p.Ser1186Pro) c.3385T>C (p.Ser1129Pro) c.3271T>C (p.Ser1091Pro) c.2833T>C (p.Ser945Pro) n.4101T>C | |
3 | g.47000024T>G | CA352516375 | NBEAL2 | c.3925T>G (p.Ser1309Ala) c.3823T>G (p.Ser1275Ala) n.262T>G c.1960-172T>G c.397T>G (p.Ser133Ala) c.3844T>G (p.Ser1282Ala) c.3904T>G (p.Ser1302Ala) c.3556T>G (p.Ser1186Ala) c.3385T>G (p.Ser1129Ala) c.3271T>G (p.Ser1091Ala) c.2833T>G (p.Ser945Ala) n.4101T>G | gnomAD v3 gnomAD v4 |
3 | g.47000025C>A | CA352516380 | NBEAL2 | c.3926C>A (p.Ser1309Ter) c.3824C>A (p.Ser1275Ter) n.263C>A c.1960-171C>A c.398C>A (p.Ser133Ter) c.3845C>A (p.Ser1282Ter) c.3905C>A (p.Ser1302Ter) c.3557C>A (p.Ser1186Ter) c.3386C>A (p.Ser1129Ter) c.3272C>A (p.Ser1091Ter) c.2834C>A (p.Ser945Ter) n.4102C>A | |
3 | g.47000025C>G | CA352516383 | NBEAL2 | c.3926C>G (p.Ser1309Ter) c.3824C>G (p.Ser1275Ter) n.263C>G c.1960-171C>G c.398C>G (p.Ser133Ter) c.3845C>G (p.Ser1282Ter) c.3905C>G (p.Ser1302Ter) c.3557C>G (p.Ser1186Ter) c.3386C>G (p.Ser1129Ter) c.3272C>G (p.Ser1091Ter) c.2834C>G (p.Ser945Ter) n.4102C>G | |
3 | g.47000025C>T | CA352516381 | NBEAL2 | c.3926C>T (p.Ser1309Leu) c.3824C>T (p.Ser1275Leu) n.263C>T c.1960-171C>T c.398C>T (p.Ser133Leu) c.3845C>T (p.Ser1282Leu) c.3905C>T (p.Ser1302Leu) c.3557C>T (p.Ser1186Leu) c.3386C>T (p.Ser1129Leu) c.3272C>T (p.Ser1091Leu) c.2834C>T (p.Ser945Leu) n.4102C>T | dbSNP |
3 | g.47000026A= | CA1362362979 | NBEAL2 | c.3927A= (p.Ser1309=) c.3825A= (p.Ser1275=) n.264A= c.1960-170A= c.399A= (p.Ser133=) c.3846A= (p.Ser1282=) c.3906A= (p.Ser1302=) c.3558A= (p.Ser1186=) c.3387A= (p.Ser1129=) c.3273A= (p.Ser1091=) c.2835A= (p.Ser945=) n.4103A= | |
3 | g.47000026A>C | CA433598199 | NBEAL2 | c.3927A>C (p.Ser1309=) c.3825A>C (p.Ser1275=) n.264A>C c.1960-170A>C c.399A>C (p.Ser133=) c.3846A>C (p.Ser1282=) c.3906A>C (p.Ser1302=) c.3558A>C (p.Ser1186=) c.3387A>C (p.Ser1129=) c.3273A>C (p.Ser1091=) c.2835A>C (p.Ser945=) n.4103A>C | dbSNP |
3 | g.47000026A>G | CA433598197 | NBEAL2 | c.3927A>G (p.Ser1309=) c.3825A>G (p.Ser1275=) n.264A>G c.1960-170A>G c.399A>G (p.Ser133=) c.3846A>G (p.Ser1282=) c.3906A>G (p.Ser1302=) c.3558A>G (p.Ser1186=) c.3387A>G (p.Ser1129=) c.3273A>G (p.Ser1091=) c.2835A>G (p.Ser945=) n.4103A>G | |
3 | g.47000026A>T | CA433598198 | NBEAL2 | c.3927A>T (p.Ser1309=) c.3825A>T (p.Ser1275=) n.264A>T c.1960-170A>T c.399A>T (p.Ser133=) c.3846A>T (p.Ser1282=) c.3906A>T (p.Ser1302=) c.3558A>T (p.Ser1186=) c.3387A>T (p.Ser1129=) c.3273A>T (p.Ser1091=) c.2835A>T (p.Ser945=) n.4103A>T | |
3 | g.47000027C>A | CA352516386 | NBEAL2 | c.3928C>A (p.Pro1310Thr) c.3826C>A (p.Pro1276Thr) n.265C>A c.1960-169C>A c.400C>A (p.Pro134Thr) c.3847C>A (p.Pro1283Thr) c.3907C>A (p.Pro1303Thr) c.3559C>A (p.Pro1187Thr) c.3388C>A (p.Pro1130Thr) c.3274C>A (p.Pro1092Thr) c.2836C>A (p.Pro946Thr) n.4104C>A | |
3 | g.47000027C>G | CA352516388 | NBEAL2 | c.3928C>G (p.Pro1310Ala) c.3826C>G (p.Pro1276Ala) n.265C>G c.1960-169C>G c.400C>G (p.Pro134Ala) c.3847C>G (p.Pro1283Ala) c.3907C>G (p.Pro1303Ala) c.3559C>G (p.Pro1187Ala) c.3388C>G (p.Pro1130Ala) c.3274C>G (p.Pro1092Ala) c.2836C>G (p.Pro946Ala) n.4104C>G | |
3 | g.47000027C>T | CA352516390 | NBEAL2 | c.3928C>T (p.Pro1310Ser) c.3826C>T (p.Pro1276Ser) n.265C>T c.1960-169C>T c.400C>T (p.Pro134Ser) c.3847C>T (p.Pro1283Ser) c.3907C>T (p.Pro1303Ser) c.3559C>T (p.Pro1187Ser) c.3388C>T (p.Pro1130Ser) c.3274C>T (p.Pro1092Ser) c.2836C>T (p.Pro946Ser) n.4104C>T | gnomAD v4 |
3 | g.47000028C>A | CA352516393 | NBEAL2 | c.3929C>A (p.Pro1310His) c.3827C>A (p.Pro1276His) n.266C>A c.1960-168C>A c.401C>A (p.Pro134His) c.3848C>A (p.Pro1283His) c.3908C>A (p.Pro1303His) c.3560C>A (p.Pro1187His) c.3389C>A (p.Pro1130His) c.3275C>A (p.Pro1092His) c.2837C>A (p.Pro946His) n.4105C>A | |
3 | g.47000028C= | CA1362362980 | NBEAL2 | c.3929C= (p.Pro1310=) c.3827C= (p.Pro1276=) n.266C= c.1960-168C= c.401C= (p.Pro134=) c.3848C= (p.Pro1283=) c.3908C= (p.Pro1303=) c.3560C= (p.Pro1187=) c.3389C= (p.Pro1130=) c.3275C= (p.Pro1092=) c.2837C= (p.Pro946=) n.4105C= | |
3 | g.47000028C>G | CA352516395 | NBEAL2 | c.3929C>G (p.Pro1310Arg) c.3827C>G (p.Pro1276Arg) n.266C>G c.1960-168C>G c.401C>G (p.Pro134Arg) c.3848C>G (p.Pro1283Arg) c.3908C>G (p.Pro1303Arg) c.3560C>G (p.Pro1187Arg) c.3389C>G (p.Pro1130Arg) c.3275C>G (p.Pro1092Arg) c.2837C>G (p.Pro946Arg) n.4105C>G | |
3 | g.47000028C>T | CA352516397 | NBEAL2 | c.3929C>T (p.Pro1310Leu) c.3827C>T (p.Pro1276Leu) n.266C>T c.1960-168C>T c.401C>T (p.Pro134Leu) c.3848C>T (p.Pro1283Leu) c.3908C>T (p.Pro1303Leu) c.3560C>T (p.Pro1187Leu) c.3389C>T (p.Pro1130Leu) c.3275C>T (p.Pro1092Leu) c.2837C>T (p.Pro946Leu) n.4105C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000029T>A | CA433598200 | NBEAL2 | c.3930T>A (p.Pro1310=) c.3828T>A (p.Pro1276=) n.267T>A c.1960-167T>A c.402T>A (p.Pro134=) c.3849T>A (p.Pro1283=) c.3909T>A (p.Pro1303=) c.3561T>A (p.Pro1187=) c.3390T>A (p.Pro1130=) c.3276T>A (p.Pro1092=) c.2838T>A (p.Pro946=) n.4106T>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000029T>C | CA433598202 | NBEAL2 | c.3930T>C (p.Pro1310=) c.3828T>C (p.Pro1276=) n.267T>C c.1960-167T>C c.402T>C (p.Pro134=) c.3849T>C (p.Pro1283=) c.3909T>C (p.Pro1303=) c.3561T>C (p.Pro1187=) c.3390T>C (p.Pro1130=) c.3276T>C (p.Pro1092=) c.2838T>C (p.Pro946=) n.4106T>C | gnomAD v4 |
3 | g.47000029T>G | CA433598201 | NBEAL2 | c.3930T>G (p.Pro1310=) c.3828T>G (p.Pro1276=) n.267T>G c.1960-167T>G c.402T>G (p.Pro134=) c.3849T>G (p.Pro1283=) c.3909T>G (p.Pro1303=) c.3561T>G (p.Pro1187=) c.3390T>G (p.Pro1130=) c.3276T>G (p.Pro1092=) c.2838T>G (p.Pro946=) n.4106T>G | |
3 | g.47000029T= | CA1362362981 | NBEAL2 | c.3930T= (p.Pro1310=) c.3828T= (p.Pro1276=) n.267T= c.1960-167T= c.402T= (p.Pro134=) c.3849T= (p.Pro1283=) c.3909T= (p.Pro1303=) c.3561T= (p.Pro1187=) c.3390T= (p.Pro1130=) c.3276T= (p.Pro1092=) c.2838T= (p.Pro946=) n.4106T= | |
3 | g.47000030A= | CA1362362982 | NBEAL2 | c.3931A= (p.Thr1311=) c.3829A= (p.Thr1277=) n.268A= c.1960-166A= c.403A= (p.Thr135=) c.3850A= (p.Thr1284=) c.3910A= (p.Thr1304=) c.3562A= (p.Thr1188=) c.3391A= (p.Thr1131=) c.3277A= (p.Thr1093=) c.2839A= (p.Thr947=) n.4107A= | |
3 | g.47000030A>C | CA352516400 | NBEAL2 | c.3931A>C (p.Thr1311Pro) c.3829A>C (p.Thr1277Pro) n.268A>C c.1960-166A>C c.403A>C (p.Thr135Pro) c.3850A>C (p.Thr1284Pro) c.3910A>C (p.Thr1304Pro) c.3562A>C (p.Thr1188Pro) c.3391A>C (p.Thr1131Pro) c.3277A>C (p.Thr1093Pro) c.2839A>C (p.Thr947Pro) n.4107A>C | gnomAD v3 gnomAD v4 |
3 | g.47000030A>G | CA352516402 | NBEAL2 | c.3931A>G (p.Thr1311Ala) c.3829A>G (p.Thr1277Ala) n.268A>G c.1960-166A>G c.403A>G (p.Thr135Ala) c.3850A>G (p.Thr1284Ala) c.3910A>G (p.Thr1304Ala) c.3562A>G (p.Thr1188Ala) c.3391A>G (p.Thr1131Ala) c.3277A>G (p.Thr1093Ala) c.2839A>G (p.Thr947Ala) n.4107A>G | |
3 | g.47000030A>T | CA352516404 | NBEAL2 | c.3931A>T (p.Thr1311Ser) c.3829A>T (p.Thr1277Ser) n.268A>T c.1960-166A>T c.403A>T (p.Thr135Ser) c.3850A>T (p.Thr1284Ser) c.3910A>T (p.Thr1304Ser) c.3562A>T (p.Thr1188Ser) c.3391A>T (p.Thr1131Ser) c.3277A>T (p.Thr1093Ser) c.2839A>T (p.Thr947Ser) n.4107A>T | |
3 | g.47000031C>A | CA352516406 | NBEAL2 | c.3932C>A (p.Thr1311Asn) c.3830C>A (p.Thr1277Asn) n.269C>A c.1960-165C>A c.404C>A (p.Thr135Asn) c.3851C>A (p.Thr1284Asn) c.3911C>A (p.Thr1304Asn) c.3563C>A (p.Thr1188Asn) c.3392C>A (p.Thr1131Asn) c.3278C>A (p.Thr1093Asn) c.2840C>A (p.Thr947Asn) n.4108C>A | |
3 | g.47000031C= | CA1362362984 | NBEAL2 | c.3932C= (p.Thr1311=) c.3830C= (p.Thr1277=) n.269C= c.1960-165C= c.404C= (p.Thr135=) c.3851C= (p.Thr1284=) c.3911C= (p.Thr1304=) c.3563C= (p.Thr1188=) c.3392C= (p.Thr1131=) c.3278C= (p.Thr1093=) c.2840C= (p.Thr947=) n.4108C= | |
3 | g.47000031C>G | CA352516407 | NBEAL2 | c.3932C>G (p.Thr1311Ser) c.3830C>G (p.Thr1277Ser) n.269C>G c.1960-165C>G c.404C>G (p.Thr135Ser) c.3851C>G (p.Thr1284Ser) c.3911C>G (p.Thr1304Ser) c.3563C>G (p.Thr1188Ser) c.3392C>G (p.Thr1131Ser) c.3278C>G (p.Thr1093Ser) c.2840C>G (p.Thr947Ser) n.4108C>G | |
3 | g.47000031C>T | CA352516410 | NBEAL2 | c.3932C>T (p.Thr1311Ile) c.3830C>T (p.Thr1277Ile) n.269C>T c.1960-165C>T c.404C>T (p.Thr135Ile) c.3851C>T (p.Thr1284Ile) c.3911C>T (p.Thr1304Ile) c.3563C>T (p.Thr1188Ile) c.3392C>T (p.Thr1131Ile) c.3278C>T (p.Thr1093Ile) c.2840C>T (p.Thr947Ile) n.4108C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000033_47000036dup | CA1362362983 | NBEAL2 | c.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 |
3 | g.47000032C>A | CA2361113 | NBEAL2 | c.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 |
3 | g.47000032C= | CA1362362985 | NBEAL2 | c.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= | |
3 | g.47000032C>G | CA433598203 | NBEAL2 | c.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 | |
3 | g.47000032C>T | CA433598204 | NBEAL2 | c.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 |
3 | g.47000033T>A | CA352516414 | NBEAL2 | c.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 | |
3 | g.47000033T>C | CA352516419 | NBEAL2 | c.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 | |
3 | g.47000033T>G | CA352516416 | NBEAL2 | c.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 |
3 | g.47000033T= | CA1362362986 | NBEAL2 | c.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= | |
3 | g.47000034C>A | CA352516422 | NBEAL2 | c.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 | |
3 | g.47000034C= | CA1362362987 | NBEAL2 | c.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= | |
3 | g.47000034C>G | CA352516424 | NBEAL2 | c.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 | |
3 | g.47000034C>T | CA2361114 | NBEAL2 | c.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 |
3 | g.47000038dup | CA1139535884 | NBEAL2 | c.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 | |
3 | g.47000035C>A | CA433598205 | NBEAL2 | c.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 | |
3 | g.47000035C>G | CA433598206 | NBEAL2 | c.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 | |
3 | g.47000035C>T | CA433598207 | NBEAL2 | c.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 |
3 | g.47000036C>A | CA352516428 | NBEAL2 | c.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 |
3 | g.47000036C= | CA1362362988 | NBEAL2 | c.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= | |
3 | g.47000036C>G | CA352516431 | NBEAL2 | c.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 | |
3 | g.47000036C>T | CA73817623 | NBEAL2 | c.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 |
3 | g.47000037C>A | CA352516435 | NBEAL2 | c.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 | |
3 | g.47000037C= | CA1362362989 | NBEAL2 | c.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= | |
3 | g.47000037C>G | CA2361115 | NBEAL2 | c.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 |
3 | g.47000037C>T | CA352516439 | NBEAL2 | c.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 | |
3 | g.47000038C>A | CA433598208 | NBEAL2 | c.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 |
3 | g.47000038C= | CA1362362990 | NBEAL2 | c.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= | |
3 | g.47000038C>G | CA433598209 | NBEAL2 | c.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 | |
3 | g.47000038C>T | CA433598210 | NBEAL2 | c.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 |
3 | g.47000039A>C | CA352516446 | NBEAL2 | c.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 |
3 | g.47000039A>G | CA352516444 | NBEAL2 | c.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 |
3 | g.47000039A>T | CA352516442 | NBEAL2 | c.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 | |
3 | g.47000040A= | CA1362362991 | NBEAL2 | c.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= | |
3 | g.47000040A>C | CA352516449 | NBEAL2 | c.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 | |
3 | g.47000040A>G | CA352516450 | NBEAL2 | c.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 |
3 | g.47000040A>T | CA352516453 | NBEAL2 | c.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 | |
3 | g.47000041G>A | CA73817646 | NBEAL2 | c.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 |
3 | g.47000041G>C | CA352516455 | NBEAL2 | c.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 | |
3 | g.47000041G= | CA1362362992 | NBEAL2 | c.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= | |
3 | g.47000041G>T | CA352516458 | NBEAL2 | c.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 | |
3 | g.47000042C>A | CA352516462 | NBEAL2 | c.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 |
3 | g.47000042C>G | CA352516463 | NBEAL2 | c.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 | |
3 | g.47000042C>T | CA352516465 | NBEAL2 | c.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 | |
3 | g.47000043C>A | CA352516468 | NBEAL2 | c.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 | |
3 | g.47000043C= | CA1362362993 | NBEAL2 | c.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= | |
3 | g.47000043C>G | CA352516471 | NBEAL2 | c.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 |
3 | g.47000043C>T | CA352516474 | NBEAL2 | c.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 | |
3 | g.47000044A= | CA1362362994 | NBEAL2 | c.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= | |
3 | g.47000044A>C | CA433598212 | NBEAL2 | c.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 |
3 | g.47000044A>G | CA2361116 | NBEAL2 | c.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 |
3 | g.47000044A>T | CA433598211 | NBEAL2 | c.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 | |
3 | g.47000045G>A | CA352516482 | NBEAL2 | c.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 | |
3 | g.47000045G>C | CA2361117 | NBEAL2 | c.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 |
3 | g.47000045G= | CA1362362995 | NBEAL2 | c.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= | |
3 | g.47000045G>T | CA352516480 | NBEAL2 | c.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 | |
3 | g.47000046C>A | CA352516484 | NBEAL2 | c.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 |
3 | g.47000046C= | CA1362362996 | NBEAL2 | c.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= | |
3 | g.47000046C>G | CA352516487 | NBEAL2 | c.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 | |
3 | g.47000046C>T | CA73817678 | NBEAL2 | c.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 |
3 | g.47000047C>A | CA433598213 | NBEAL2 | c.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 | |
3 | g.47000047C= | CA1362362997 | NBEAL2 | c.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= | |
3 | g.47000047C>G | CA433598214 | NBEAL2 | c.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 |
3 | g.47000047C>T | CA433598215 | NBEAL2 | c.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 | |
3 | g.47000048C>A | CA352516491 | NBEAL2 | c.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 | |
3 | g.47000048C>G | CA352516493 | NBEAL2 | c.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 | |
3 | g.47000048C>T | CA352516495 | NBEAL2 | c.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 | |
3 | g.47000049C>A | CA352516497 | NBEAL2 | c.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 | |
3 | g.47000049C>G | CA352516499 | NBEAL2 | c.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 | |
3 | g.47000049C>T | CA352516501 | NBEAL2 | c.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 |
3 | g.47000050A= | CA1362362998 | NBEAL2 | c.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= | |
3 | g.47000050A>C | CA433598216 | NBEAL2 | c.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 |
3 | g.47000050A>G | CA433598217 | NBEAL2 | c.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 | |
3 | g.47000050A>T | CA433598218 | NBEAL2 | c.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 | |
3 | g.47000051C>A | CA352516503 | NBEAL2 | c.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 |
3 | g.47000051C>G | CA352516505 | NBEAL2 | c.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 | |
3 | g.47000051C>T | CA352516507 | NBEAL2 | c.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 | |
3 | g.47000052C>A | CA352516511 | NBEAL2 | c.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 | |
3 | g.47000052C>G | CA352516512 | NBEAL2 | c.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 | |
3 | g.47000052C>T | CA352516509 | NBEAL2 | c.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 | |
3 | g.47000053C>A | CA433598220 | NBEAL2 | c.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 | |
3 | g.47000053C= | CA1362362999 | NBEAL2 | c.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= | |
3 | g.47000053C>G | CA2361118 | NBEAL2 | c.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 |
3 | g.47000053C>T | CA433598222 | NBEAL2 | c.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 |
3 | g.47000054A= | CA1362363000 | NBEAL2 | c.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= | |
3 | g.47000054A>C | CA352516516 | NBEAL2 | c.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 |
3 | g.47000054A>G | CA352516518 | NBEAL2 | c.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 | |
3 | g.47000054A>T | CA352516520 | NBEAL2 | c.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 | |
3 | g.47000055A>C | CA352516522 | NBEAL2 | c.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 | |
3 | g.47000055A>G | CA352516524 | NBEAL2 | c.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 | |
3 | g.47000055A>T | CA352516526 | NBEAL2 | c.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 | |
3 | g.47000056G>A | CA433598224 | NBEAL2 | c.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 |
3 | g.47000056G>C | CA352516529 | NBEAL2 | c.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 | |
3 | g.47000056G>T | CA352516530 | NBEAL2 | c.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 | |
3 | g.47000057C>A | CA352516532 | NBEAL2 | c.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 | |
3 | g.47000057C>G | CA352516534 | NBEAL2 | c.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 | |
3 | g.47000057C>T | CA352516535 | NBEAL2 | c.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 | |
3 | g.47000058C>A | CA352516536 | NBEAL2 | c.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 |
3 | g.47000058C= | CA1362363001 | NBEAL2 | c.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= | |
3 | g.47000058C>G | CA352516538 | NBEAL2 | c.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 | |
3 | g.47000058C>T | CA352516539 | NBEAL2 | c.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 |
3 | g.47000059A>C | CA433598228 | NBEAL2 | c.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 | |
3 | g.47000059A>G | CA433598230 | NBEAL2 | c.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 | |
3 | g.47000059A>T | CA433598232 | NBEAL2 | c.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 | |
3 | g.47000060C>A | CA352516542 | NBEAL2 | c.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 | |
3 | g.47000060C>G | CA352516546 | NBEAL2 | c.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 | |
3 | g.47000060C>T | CA352516544 | NBEAL2 | c.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 |
3 | g.47000061C>A | CA352516549 | NBEAL2 | c.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 | |
3 | g.47000061C>G | CA352516551 | NBEAL2 | c.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 | |
3 | g.47000061C>T | CA352516552 | NBEAL2 | c.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 |
3 | g.47000062C>A | CA433598234 | NBEAL2 | c.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 | |
3 | g.47000062C>G | CA433598235 | NBEAL2 | c.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 | |
3 | g.47000062C>T | CA433598236 | NBEAL2 | c.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 | |
3 | g.47000063A= | CA1362363002 | NBEAL2 | c.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= | |
3 | g.47000063A>C | CA352516555 | NBEAL2 | c.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 | |
3 | g.47000063A>G | CA352516558 | NBEAL2 | c.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 |
3 | g.47000063A>T | CA352516560 | NBEAL2 | c.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 | |
3 | g.47000064C>A | CA352516562 | NBEAL2 | c.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 | |
3 | g.47000064C>G | CA352516564 | NBEAL2 | c.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 | |
3 | g.47000064C>T | CA352516567 | NBEAL2 | c.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 | |
3 | g.47000065T>A | CA433598238 | NBEAL2 | c.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 | |
3 | g.47000065T>C | CA433598239 | NBEAL2 | c.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 | |
3 | g.47000065T>G | CA433598237 | NBEAL2 | c.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 | |
3 | g.47000066G>A | CA352516570 | NBEAL2 | c.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 | |
3 | g.47000066G>C | CA352516572 | NBEAL2 | c.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 |
3 | g.47000066G= | CA1362363003 | NBEAL2 | c.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= | |
3 | g.47000066G>T | CA352516574 | NBEAL2 | c.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 | |
3 | g.47000067A>C | CA352516577 | NBEAL2 | c.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 | |
3 | g.47000067A>G | CA352516581 | NBEAL2 | c.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 | |
3 | g.47000067A>T | CA352516579 | NBEAL2 | c.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 | |
3 | g.47000068G>A | CA433598244 | NBEAL2 | c.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 | |
3 | g.47000068G>C | CA352516584 | NBEAL2 | c.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 | |
3 | g.47000068G>T | CA352516586 | NBEAL2 | c.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 | |
3 | g.47000069T>A | CA352516588 | NBEAL2 | c.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 | |
3 | g.47000069T>C | CA352516590 | NBEAL2 | c.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 | |
3 | g.47000069T>G | CA352516592 | NBEAL2 | c.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 | |
3 | g.47000070C>A | CA352516597 | NBEAL2 | c.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 | |
3 | g.47000070C= | CA1362363004 | NBEAL2 | c.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= | |
3 | g.47000070C>G | CA352516595 | NBEAL2 | c.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 | |
3 | g.47000070C>T | CA73817679 | NBEAL2 | c.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 |
3 | g.47000071A>C | CA433598247 | NBEAL2 | c.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 | |
3 | g.47000071A>G | CA433598251 | NBEAL2 | c.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 | |
3 | g.47000071A>T | CA433598249 | NBEAL2 | c.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 | |
3 | g.47000072C>A | CA352516599 | NBEAL2 | c.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 | |
3 | g.47000072C= | CA1362363005 | NBEAL2 | c.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= | |
3 | g.47000072C>G | CA352516601 | NBEAL2 | c.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 |
3 | g.47000072C>T | CA352516603 | NBEAL2 | c.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 |
3 | g.47000072_47000075delinsCCTG | CA1362363006 | NBEAL2 | c.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 | |
3 | g.47000073C>A | CA352516605 | NBEAL2 | c.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 | |
3 | g.47000073C>G | CA352516607 | NBEAL2 | c.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 | |
3 | g.47000073C>T | CA352516610 | NBEAL2 | c.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 |
3 | g.47000076_47000078del | CA1047549676 | NBEAL2 | c.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 |
3 | g.47000074T>A | CA433598254 | NBEAL2 | c.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 |
3 | g.47000074T>C | CA433598256 | NBEAL2 | c.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 |
3 | g.47000074T>G | CA433598258 | NBEAL2 | c.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 | |
3 | g.47000074T= | CA1362363007 | NBEAL2 | c.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= | |
3 | g.47000075G>A | CA352516613 | NBEAL2 | c.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 | |
3 | g.47000075G>C | CA352516617 | NBEAL2 | c.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 |
3 | g.47000075G= | CA1362363008 | NBEAL2 | c.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= | |
3 | g.47000075G>T | CA352516615 | NBEAL2 | c.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 | |
3 | g.47000076C>A | CA352516619 | NBEAL2 | c.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 | |
3 | g.47000076C>G | CA352516621 | NBEAL2 | c.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 | |
3 | g.47000076C>T | CA352516623 | NBEAL2 | c.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 |
3 | g.47000077T>A | CA433598261 | NBEAL2 | c.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 | |
3 | g.47000077T>C | CA433598263 | NBEAL2 | c.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 |
3 | g.47000077T>G | CA433598264 | NBEAL2 | c.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 | |
3 | g.47000077T= | CA1362363009 | NBEAL2 | c.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= | |
3 | g.47000078G>A | CA352516626 | NBEAL2 | c.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 | |
3 | g.47000078G>C | CA352516633 | NBEAL2 | c.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 | |
3 | g.47000078G>T | CA352516636 | NBEAL2 | c.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 | |
3 | g.47000079A= | CA1362363010 | NBEAL2 | c.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= | |
3 | g.47000079A>C | CA352516638 | NBEAL2 | c.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 | |
3 | g.47000079A>G | CA2361119 | NBEAL2 | c.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 |
3 | g.47000079A>T | CA352516643 | NBEAL2 | c.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 | |
3 | g.47000080G>A | CA433598267 | NBEAL2 | c.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 |
3 | g.47000080G>C | CA352516645 | NBEAL2 | c.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 | |
3 | g.47000080G>T | CA352516647 | NBEAL2 | c.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 | |
3 | g.47000081C>A | CA352516650 | NBEAL2 | c.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 |
3 | g.47000081C= | CA1362363011 | NBEAL2 | c.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= | |
3 | g.47000081C>G | CA352516653 | NBEAL2 | c.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 | |
3 | g.47000081C>T | CA2361120 | NBEAL2 | c.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 |
3 | g.47000082C>A | CA352516655 | NBEAL2 | c.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 | |
3 | g.47000082C= | CA1362363012 | NBEAL2 | c.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= | |
3 | g.47000082C>G | CA352516658 | NBEAL2 | c.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 | |
3 | g.47000082C>T | CA352516657 | NBEAL2 | c.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 |
3 | g.47000083T>A | CA433598269 | NBEAL2 | c.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 | |
3 | g.47000083T>C | CA433598270 | NBEAL2 | c.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 | |
3 | g.47000083T>G | CA433598271 | NBEAL2 | c.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 | |
3 | g.47000084T>A | CA352516661 | NBEAL2 | c.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 | |
3 | g.47000084T>C | CA352516663 | NBEAL2 | c.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 | |
3 | g.47000084T>G | CA352516665 | NBEAL2 | c.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 | |
3 | g.47000085C>A | CA352516667 | NBEAL2 | c.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 | |
3 | g.47000085C= | CA1362363013 | NBEAL2 | c.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= | |
3 | g.47000085C>G | CA352516669 | NBEAL2 | c.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 | |
3 | g.47000085C>T | CA352516671 | NBEAL2 | c.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 |
3 | g.47000086A>C | CA433598275 | NBEAL2 | c.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 | |
3 | g.47000086A>G | CA433598274 | NBEAL2 | c.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 | |
3 | g.47000086A>T | CA433598273 | NBEAL2 | c.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 | |
3 | g.47000087G>A | CA352516672 | NBEAL2 | c.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 | |
3 | g.47000087G>C | CA352516673 | NBEAL2 | c.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 | |
3 | g.47000087G>T | CA352516675 | NBEAL2 | c.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 | |
3 | g.47000088A>C | CA352516677 | NBEAL2 | c.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 | |
3 | g.47000088A>G | CA352516679 | NBEAL2 | c.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 | |
3 | g.47000088A>T | CA352516681 | NBEAL2 | c.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 | |
3 | g.47000089T>A | CA352516683 | NBEAL2 | c.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 | |
3 | g.47000089T>C | CA2361121 | NBEAL2 | c.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 |
3 | g.47000089T>G | CA352516682 | NBEAL2 | c.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 | |
3 | g.47000089T= | CA1362363014 | NBEAL2 | c.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= | |
3 | g.47000090G>A | CA352516684 | NBEAL2 | c.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 |
3 | g.47000090G>C | CA352516685 | NBEAL2 | c.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 | |
3 | g.47000090G>T | CA352516686 | NBEAL2 | c.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 |
3 | g.47000091T>A | CA352516687 | NBEAL2 | c.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 | |
3 | g.47000091T>C | CA352516688 | NBEAL2 | c.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 | |
3 | g.47000091T>G | CA352516689 | NBEAL2 | c.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 | |
3 | g.47000092C>A | CA433598283 | NBEAL2 | c.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 | |
3 | g.47000092C= | CA1362363015 | NBEAL2 | c.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= | |
3 | g.47000092C>G | CA433598281 | NBEAL2 | c.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 | |
3 | g.47000092C>T | CA433598282 | NBEAL2 | c.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 |
3 | g.47000093T>A | CA352516690 | NBEAL2 | c.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 | |
3 | g.47000093T>C | CA352516691 | NBEAL2 | c.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 | |
3 | g.47000093T>G | CA352516692 | NBEAL2 | c.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 | |
3 | g.47000094T>A | CA352516693 | NBEAL2 | c.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 | |
3 | g.47000094T>C | CA352516694 | NBEAL2 | c.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 |
3 | g.47000094T>G | CA352516695 | NBEAL2 | c.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 | |
3 | g.47000094T= | CA1362363016 | NBEAL2 | c.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= | |
3 | g.47000095C>A | CA352516696 | NBEAL2 | c.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 | |
3 | g.47000095C>G | CA352516697 | NBEAL2 | c.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 | |
3 | g.47000095C>T | CA433598287 | NBEAL2 | c.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 | |
3 | g.47000096C>A | CA352516698 | NBEAL2 | c.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 | |
3 | g.47000096C= | CA1362363017 | NBEAL2 | c.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= | |
3 | g.47000096C>G | CA352516699 | NBEAL2 | c.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 |
3 | g.47000096C>T | CA433598289 | NBEAL2 | c.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 | |
3 | g.47000097T>A | CA352516700 | NBEAL2 | c.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 | |
3 | g.47000097T>C | CA2361122 | NBEAL2 | c.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 |
3 | g.47000097T>G | CA352516701 | NBEAL2 | c.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 | |
3 | g.47000097T= | CA1362363018 | NBEAL2 | c.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= | |
3 | g.47000098G>A | CA433598308 | NBEAL2 | c.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 | |
3 | g.47000098G>C | CA433598306 | NBEAL2 | c.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 |
3 | g.47000098G>T | CA433598307 | NBEAL2 | c.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 | |
3 | g.47000099C>A | CA352516702 | NBEAL2 | c.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 | |
3 | g.47000099C= | CA1362363019 | NBEAL2 | c.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= | |
3 | g.47000099C>G | CA2361124 | NBEAL2 | c.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 |
3 | g.47000099C>T | CA2361123 | NBEAL2 | c.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 |
3 | g.47000100C>A | CA73817706 | NBEAL2 | c.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 |
3 | g.47000100C= | CA1362363020 | NBEAL2 | c.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= | |
3 | g.47000100C>G | CA352516703 | NBEAL2 | c.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 | |
3 | g.47000100C>T | CA352516704 | NBEAL2 | c.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 | |
3 | g.47000101C>A | CA433598312 | NBEAL2 | c.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 | |
3 | g.47000101C= | CA1362363021 | NBEAL2 | c.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= | |
3 | g.47000101C>G | CA433598313 | NBEAL2 | c.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 | |
3 | g.47000101C>T | CA433598314 | NBEAL2 | c.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 |
3 | g.47000102T>A | CA352516705 | NBEAL2 | c.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 | |
3 | g.47000102T>C | CA352516706 | NBEAL2 | c.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 | |
3 | g.47000102T>G | CA352516707 | NBEAL2 | c.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 | |
3 | g.47000103C>A | CA352516708 | NBEAL2 | c.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 | |
3 | g.47000103C>G | CA352516710 | NBEAL2 | c.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 | |
3 | g.47000103C>T | CA352516709 | NBEAL2 | c.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 | |
3 | g.47000104A>C | CA433598317 | NBEAL2 | c.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 | |
3 | g.47000104A>G | CA433598318 | NBEAL2 | c.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 | |
3 | g.47000104A>T | CA433598319 | NBEAL2 | c.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 | |
3 | g.47000105G>A | CA352516711 | NBEAL2 | c.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 | |
3 | g.47000105G>C | CA352516712 | NBEAL2 | c.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 | |
3 | g.47000105G>T | CA352516713 | NBEAL2 | c.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 | |
3 | g.47000106A>C | CA352516714 | NBEAL2 | c.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 | |
3 | g.47000106A>G | CA352516715 | NBEAL2 | c.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 | |
3 | g.47000106A>T | CA352516716 | NBEAL2 | c.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 | |
3 | g.47000107G>A | CA433598323 | NBEAL2 | c.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 |
3 | g.47000107G>C | CA352516717 | NBEAL2 | c.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 | |
3 | g.47000107G>T | CA352516718 | NBEAL2 | c.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 | |
3 | g.47000108G>A | CA352516719 | NBEAL2 | c.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 |
3 | g.47000108G>C | CA352516720 | NBEAL2 | c.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 | |
3 | g.47000108G= | CA1362363022 | NBEAL2 | c.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= | |
3 | g.47000108G>T | CA352516721 | NBEAL2 | c.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 |
3 | g.47000109C>A | CA352516724 | NBEAL2 | c.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 | |
3 | g.47000109C>G | CA352516723 | NBEAL2 | c.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 | |
3 | g.47000109C>T | CA352516722 | NBEAL2 | c.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 | |
3 | g.47000113dup | CA2832544514 | NBEAL2 | c.4014dup (p.Cys1339LeufsTer3) c.3912dup (p.Cys1305LeufsTer3) n.351dup c.1960-83dup c.486dup (p.Cys163LeufsTer3) c.3933dup (p.Cys1312LeufsTer3) c.3993dup (p.Cys1332LeufsTer3) c.3645dup (p.Cys1216LeufsTer3) c.3474dup (p.Cys1159LeufsTer3) c.3360dup (p.Cys1121LeufsTer3) c.2922dup (p.Cys975LeufsTer3) n.4190dup | |
3 | g.47000110C>A | CA433598327 | NBEAL2 | c.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 | |
3 | g.47000110C>G | CA433598328 | NBEAL2 | c.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 | |
3 | g.47000110C>T | CA433598329 | NBEAL2 | c.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 | |
3 | g.47000111C>A | CA352516726 | NBEAL2 | c.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 | |
3 | g.47000111C= | CA1362363023 | NBEAL2 | c.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= | |
3 | g.47000111C>G | CA352516725 | NBEAL2 | c.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 | |
3 | g.47000111C>T | CA352516727 | NBEAL2 | c.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 |
3 | g.47000112C>A | CA2361126 | NBEAL2 | c.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 |
3 | g.47000112C= | CA1362363024 | NBEAL2 | c.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= | |
3 | g.47000112C>G | CA2361125 | NBEAL2 | c.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 |
3 | g.47000112C>T | CA352516728 | NBEAL2 | c.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 | |
3 | g.47000113C>A | CA433598330 | NBEAL2 | c.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 | |
3 | g.47000113C>G | CA433598331 | NBEAL2 | c.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 | |
3 | g.47000113C>T | CA433598333 | NBEAL2 | c.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 | |
3 | g.47000114T>A | CA352516729 | NBEAL2 | c.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 |
3 | g.47000114T>C | CA352516730 | NBEAL2 | c.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 |
3 | g.47000114T>G | CA352516731 | NBEAL2 | c.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 | |
3 | g.47000114T= | CA1362363025 | NBEAL2 | c.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= |