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.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= | |
3 | g.47000115G>A | CA352516732 | NBEAL2 | c.4016G>A (p.Cys1339Tyr) c.3914G>A (p.Cys1305Tyr) n.353G>A c.1960-81G>A c.488G>A (p.Cys163Tyr) c.3935G>A (p.Cys1312Tyr) c.3995G>A (p.Cys1332Tyr) c.3647G>A (p.Cys1216Tyr) c.3476G>A (p.Cys1159Tyr) c.3362G>A (p.Cys1121Tyr) c.2924G>A (p.Cys975Tyr) n.4192G>A | |
3 | g.47000115G>C | CA352516733 | NBEAL2 | c.4016G>C (p.Cys1339Ser) c.3914G>C (p.Cys1305Ser) n.353G>C c.1960-81G>C c.488G>C (p.Cys163Ser) c.3935G>C (p.Cys1312Ser) c.3995G>C (p.Cys1332Ser) c.3647G>C (p.Cys1216Ser) c.3476G>C (p.Cys1159Ser) c.3362G>C (p.Cys1121Ser) c.2924G>C (p.Cys975Ser) n.4192G>C | |
3 | g.47000115G>T | CA352516734 | NBEAL2 | c.4016G>T (p.Cys1339Phe) c.3914G>T (p.Cys1305Phe) n.353G>T c.1960-81G>T c.488G>T (p.Cys163Phe) c.3935G>T (p.Cys1312Phe) c.3995G>T (p.Cys1332Phe) c.3647G>T (p.Cys1216Phe) c.3476G>T (p.Cys1159Phe) c.3362G>T (p.Cys1121Phe) c.2924G>T (p.Cys975Phe) n.4192G>T | |
3 | g.47000116C>A | CA352516735 | NBEAL2 | c.4017C>A (p.Cys1339Ter) c.3915C>A (p.Cys1305Ter) n.354C>A c.1960-80C>A c.489C>A (p.Cys163Ter) c.3936C>A (p.Cys1312Ter) c.3996C>A (p.Cys1332Ter) c.3648C>A (p.Cys1216Ter) c.3477C>A (p.Cys1159Ter) c.3363C>A (p.Cys1121Ter) c.2925C>A (p.Cys975Ter) n.4193C>A | |
3 | g.47000116C>G | CA352516736 | NBEAL2 | c.4017C>G (p.Cys1339Trp) c.3915C>G (p.Cys1305Trp) n.354C>G c.1960-80C>G c.489C>G (p.Cys163Trp) c.3936C>G (p.Cys1312Trp) c.3996C>G (p.Cys1332Trp) c.3648C>G (p.Cys1216Trp) c.3477C>G (p.Cys1159Trp) c.3363C>G (p.Cys1121Trp) c.2925C>G (p.Cys975Trp) n.4193C>G | |
3 | g.47000116C>T | CA433598336 | NBEAL2 | c.4017C>T (p.Cys1339=) c.3915C>T (p.Cys1305=) n.354C>T c.1960-80C>T c.489C>T (p.Cys163=) c.3936C>T (p.Cys1312=) c.3996C>T (p.Cys1332=) c.3648C>T (p.Cys1216=) c.3477C>T (p.Cys1159=) c.3363C>T (p.Cys1121=) c.2925C>T (p.Cys975=) n.4193C>T | |
3 | g.47000118dup | CA2838463779 | NBEAL2 | c.4019dup (p.Asp1341Ter) c.3917dup (p.Asp1307Ter) n.356dup c.1960-78dup c.491dup (p.Asp165Ter) c.3938dup (p.Asp1314Ter) c.3998dup (p.Asp1334Ter) c.3650dup (p.Asp1218Ter) c.3479dup (p.Asp1161Ter) c.3365dup (p.Asp1123Ter) c.2927dup (p.Asp977Ter) n.4195dup | |
3 | g.47000117C>A | CA352516737 | NBEAL2 | c.4018C>A (p.Pro1340Thr) c.3916C>A (p.Pro1306Thr) n.355C>A c.1960-79C>A c.490C>A (p.Pro164Thr) c.3937C>A (p.Pro1313Thr) c.3997C>A (p.Pro1333Thr) c.3649C>A (p.Pro1217Thr) c.3478C>A (p.Pro1160Thr) c.3364C>A (p.Pro1122Thr) c.2926C>A (p.Pro976Thr) n.4194C>A | |
3 | g.47000117C= | CA1362363026 | NBEAL2 | c.4018C= (p.Pro1340=) c.3916C= (p.Pro1306=) n.355C= c.1960-79C= c.490C= (p.Pro164=) c.3937C= (p.Pro1313=) c.3997C= (p.Pro1333=) c.3649C= (p.Pro1217=) c.3478C= (p.Pro1160=) c.3364C= (p.Pro1122=) c.2926C= (p.Pro976=) n.4194C= | |
3 | g.47000117C>G | CA73817724 | NBEAL2 | c.4018C>G (p.Pro1340Ala) c.3916C>G (p.Pro1306Ala) n.355C>G c.1960-79C>G c.490C>G (p.Pro164Ala) c.3937C>G (p.Pro1313Ala) c.3997C>G (p.Pro1333Ala) c.3649C>G (p.Pro1217Ala) c.3478C>G (p.Pro1160Ala) c.3364C>G (p.Pro1122Ala) c.2926C>G (p.Pro976Ala) n.4194C>G | dbSNP gnomAD v4 |
3 | g.47000117C>T | CA352516738 | NBEAL2 | c.4018C>T (p.Pro1340Ser) c.3916C>T (p.Pro1306Ser) n.355C>T c.1960-79C>T c.490C>T (p.Pro164Ser) c.3937C>T (p.Pro1313Ser) c.3997C>T (p.Pro1333Ser) c.3649C>T (p.Pro1217Ser) c.3478C>T (p.Pro1160Ser) c.3364C>T (p.Pro1122Ser) c.2926C>T (p.Pro976Ser) n.4194C>T | |
3 | g.47000118C>A | CA352516741 | NBEAL2 | c.4019C>A (p.Pro1340His) c.3917C>A (p.Pro1306His) n.356C>A c.1960-78C>A c.491C>A (p.Pro164His) c.3938C>A (p.Pro1313His) c.3998C>A (p.Pro1333His) c.3650C>A (p.Pro1217His) c.3479C>A (p.Pro1160His) c.3365C>A (p.Pro1122His) c.2927C>A (p.Pro976His) n.4195C>A | |
3 | g.47000118C= | CA1362363027 | NBEAL2 | c.4019C= (p.Pro1340=) c.3917C= (p.Pro1306=) n.356C= c.1960-78C= c.491C= (p.Pro164=) c.3938C= (p.Pro1313=) c.3998C= (p.Pro1333=) c.3650C= (p.Pro1217=) c.3479C= (p.Pro1160=) c.3365C= (p.Pro1122=) c.2927C= (p.Pro976=) n.4195C= | |
3 | g.47000118C>G | CA352516740 | NBEAL2 | c.4019C>G (p.Pro1340Arg) c.3917C>G (p.Pro1306Arg) n.356C>G c.1960-78C>G c.491C>G (p.Pro164Arg) c.3938C>G (p.Pro1313Arg) c.3998C>G (p.Pro1333Arg) c.3650C>G (p.Pro1217Arg) c.3479C>G (p.Pro1160Arg) c.3365C>G (p.Pro1122Arg) c.2927C>G (p.Pro976Arg) n.4195C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000118C>T | CA352516739 | NBEAL2 | c.4019C>T (p.Pro1340Leu) c.3917C>T (p.Pro1306Leu) n.356C>T c.1960-78C>T c.491C>T (p.Pro164Leu) c.3938C>T (p.Pro1313Leu) c.3998C>T (p.Pro1333Leu) c.3650C>T (p.Pro1217Leu) c.3479C>T (p.Pro1160Leu) c.3365C>T (p.Pro1122Leu) c.2927C>T (p.Pro976Leu) n.4195C>T | |
3 | g.47000119T>A | CA433598339 | NBEAL2 | c.4020T>A (p.Pro1340=) c.3918T>A (p.Pro1306=) n.357T>A c.1960-77T>A c.492T>A (p.Pro164=) c.3939T>A (p.Pro1313=) c.3999T>A (p.Pro1333=) c.3651T>A (p.Pro1217=) c.3480T>A (p.Pro1160=) c.3366T>A (p.Pro1122=) c.2928T>A (p.Pro976=) n.4196T>A | |
3 | g.47000119T>C | CA433598343 | NBEAL2 | c.4020T>C (p.Pro1340=) c.3918T>C (p.Pro1306=) n.357T>C c.1960-77T>C c.492T>C (p.Pro164=) c.3939T>C (p.Pro1313=) c.3999T>C (p.Pro1333=) c.3651T>C (p.Pro1217=) c.3480T>C (p.Pro1160=) c.3366T>C (p.Pro1122=) c.2928T>C (p.Pro976=) n.4196T>C | |
3 | g.47000119T>G | CA433598341 | NBEAL2 | c.4020T>G (p.Pro1340=) c.3918T>G (p.Pro1306=) n.357T>G c.1960-77T>G c.492T>G (p.Pro164=) c.3939T>G (p.Pro1313=) c.3999T>G (p.Pro1333=) c.3651T>G (p.Pro1217=) c.3480T>G (p.Pro1160=) c.3366T>G (p.Pro1122=) c.2928T>G (p.Pro976=) n.4196T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000119T= | CA1362363028 | NBEAL2 | c.4020T= (p.Pro1340=) c.3918T= (p.Pro1306=) n.357T= c.1960-77T= c.492T= (p.Pro164=) c.3939T= (p.Pro1313=) c.3999T= (p.Pro1333=) c.3651T= (p.Pro1217=) c.3480T= (p.Pro1160=) c.3366T= (p.Pro1122=) c.2928T= (p.Pro976=) n.4196T= | |
3 | g.47000120G>A | CA352516742 | NBEAL2 | c.4021G>A (p.Asp1341Asn) c.3919G>A (p.Asp1307Asn) n.358G>A c.1960-76G>A c.493G>A (p.Asp165Asn) c.3940G>A (p.Asp1314Asn) c.4000G>A (p.Asp1334Asn) c.3652G>A (p.Asp1218Asn) c.3481G>A (p.Asp1161Asn) c.3367G>A (p.Asp1123Asn) c.2929G>A (p.Asp977Asn) n.4197G>A | |
3 | g.47000120G>C | CA352516743 | NBEAL2 | c.4021G>C (p.Asp1341His) c.3919G>C (p.Asp1307His) n.358G>C c.1960-76G>C c.493G>C (p.Asp165His) c.3940G>C (p.Asp1314His) c.4000G>C (p.Asp1334His) c.3652G>C (p.Asp1218His) c.3481G>C (p.Asp1161His) c.3367G>C (p.Asp1123His) c.2929G>C (p.Asp977His) n.4197G>C | |
3 | g.47000120G>T | CA352516744 | NBEAL2 | c.4021G>T (p.Asp1341Tyr) c.3919G>T (p.Asp1307Tyr) n.358G>T c.1960-76G>T c.493G>T (p.Asp165Tyr) c.3940G>T (p.Asp1314Tyr) c.4000G>T (p.Asp1334Tyr) c.3652G>T (p.Asp1218Tyr) c.3481G>T (p.Asp1161Tyr) c.3367G>T (p.Asp1123Tyr) c.2929G>T (p.Asp977Tyr) n.4197G>T | |
3 | g.47000121A= | CA1362363029 | NBEAL2 | c.4022A= (p.Asp1341=) c.3920A= (p.Asp1307=) n.359A= c.1960-75A= c.494A= (p.Asp165=) c.3941A= (p.Asp1314=) c.4001A= (p.Asp1334=) c.3653A= (p.Asp1218=) c.3482A= (p.Asp1161=) c.3368A= (p.Asp1123=) c.2930A= (p.Asp977=) n.4198A= | |
3 | g.47000121A>C | CA352516745 | NBEAL2 | c.4022A>C (p.Asp1341Ala) c.3920A>C (p.Asp1307Ala) n.359A>C c.1960-75A>C c.494A>C (p.Asp165Ala) c.3941A>C (p.Asp1314Ala) c.4001A>C (p.Asp1334Ala) c.3653A>C (p.Asp1218Ala) c.3482A>C (p.Asp1161Ala) c.3368A>C (p.Asp1123Ala) c.2930A>C (p.Asp977Ala) n.4198A>C | |
3 | g.47000121A>G | CA352516746 | NBEAL2 | c.4022A>G (p.Asp1341Gly) c.3920A>G (p.Asp1307Gly) n.359A>G c.1960-75A>G c.494A>G (p.Asp165Gly) c.3941A>G (p.Asp1314Gly) c.4001A>G (p.Asp1334Gly) c.3653A>G (p.Asp1218Gly) c.3482A>G (p.Asp1161Gly) c.3368A>G (p.Asp1123Gly) c.2930A>G (p.Asp977Gly) n.4198A>G | dbSNP gnomAD v2 |
3 | g.47000121A>T | CA352516747 | NBEAL2 | c.4022A>T (p.Asp1341Val) c.3920A>T (p.Asp1307Val) n.359A>T c.1960-75A>T c.494A>T (p.Asp165Val) c.3941A>T (p.Asp1314Val) c.4001A>T (p.Asp1334Val) c.3653A>T (p.Asp1218Val) c.3482A>T (p.Asp1161Val) c.3368A>T (p.Asp1123Val) c.2930A>T (p.Asp977Val) n.4198A>T | |
3 | g.47000122C>A | CA352516748 | NBEAL2 | c.4023C>A (p.Asp1341Glu) c.3921C>A (p.Asp1307Glu) n.360C>A c.1960-74C>A c.495C>A (p.Asp165Glu) c.3942C>A (p.Asp1314Glu) c.4002C>A (p.Asp1334Glu) c.3654C>A (p.Asp1218Glu) c.3483C>A (p.Asp1161Glu) c.3369C>A (p.Asp1123Glu) c.2931C>A (p.Asp977Glu) n.4199C>A | |
3 | g.47000122C>G | CA352516749 | NBEAL2 | c.4023C>G (p.Asp1341Glu) c.3921C>G (p.Asp1307Glu) n.360C>G c.1960-74C>G c.495C>G (p.Asp165Glu) c.3942C>G (p.Asp1314Glu) c.4002C>G (p.Asp1334Glu) c.3654C>G (p.Asp1218Glu) c.3483C>G (p.Asp1161Glu) c.3369C>G (p.Asp1123Glu) c.2931C>G (p.Asp977Glu) n.4199C>G | |
3 | g.47000122C>T | CA433598346 | NBEAL2 | c.4023C>T (p.Asp1341=) c.3921C>T (p.Asp1307=) n.360C>T c.1960-74C>T c.495C>T (p.Asp165=) c.3942C>T (p.Asp1314=) c.4002C>T (p.Asp1334=) c.3654C>T (p.Asp1218=) c.3483C>T (p.Asp1161=) c.3369C>T (p.Asp1123=) c.2931C>T (p.Asp977=) n.4199C>T | gnomAD v4 |
3 | g.47000123C>A | CA352516750 | NBEAL2 | c.4024C>A (p.Pro1342Thr) c.3922C>A (p.Pro1308Thr) n.361C>A c.1960-73C>A c.496C>A (p.Pro166Thr) c.3943C>A (p.Pro1315Thr) c.4003C>A (p.Pro1335Thr) c.3655C>A (p.Pro1219Thr) c.3484C>A (p.Pro1162Thr) c.3370C>A (p.Pro1124Thr) c.2932C>A (p.Pro978Thr) n.4200C>A | |
3 | g.47000123C>G | CA352516751 | NBEAL2 | c.4024C>G (p.Pro1342Ala) c.3922C>G (p.Pro1308Ala) n.361C>G c.1960-73C>G c.496C>G (p.Pro166Ala) c.3943C>G (p.Pro1315Ala) c.4003C>G (p.Pro1335Ala) c.3655C>G (p.Pro1219Ala) c.3484C>G (p.Pro1162Ala) c.3370C>G (p.Pro1124Ala) c.2932C>G (p.Pro978Ala) n.4200C>G | |
3 | g.47000123C>T | CA352516752 | NBEAL2 | c.4024C>T (p.Pro1342Ser) c.3922C>T (p.Pro1308Ser) n.361C>T c.1960-73C>T c.496C>T (p.Pro166Ser) c.3943C>T (p.Pro1315Ser) c.4003C>T (p.Pro1335Ser) c.3655C>T (p.Pro1219Ser) c.3484C>T (p.Pro1162Ser) c.3370C>T (p.Pro1124Ser) c.2932C>T (p.Pro978Ser) n.4200C>T | dbSNP |
3 | g.47000124C>A | CA352516755 | NBEAL2 | c.4025C>A (p.Pro1342His) c.3923C>A (p.Pro1308His) n.362C>A c.1960-72C>A c.497C>A (p.Pro166His) c.3944C>A (p.Pro1315His) c.4004C>A (p.Pro1335His) c.3656C>A (p.Pro1219His) c.3485C>A (p.Pro1162His) c.3371C>A (p.Pro1124His) c.2933C>A (p.Pro978His) n.4201C>A | |
3 | g.47000124C>G | CA352516754 | NBEAL2 | c.4025C>G (p.Pro1342Arg) c.3923C>G (p.Pro1308Arg) n.362C>G c.1960-72C>G c.497C>G (p.Pro166Arg) c.3944C>G (p.Pro1315Arg) c.4004C>G (p.Pro1335Arg) c.3656C>G (p.Pro1219Arg) c.3485C>G (p.Pro1162Arg) c.3371C>G (p.Pro1124Arg) c.2933C>G (p.Pro978Arg) n.4201C>G | |
3 | g.47000124C>T | CA352516753 | NBEAL2 | c.4025C>T (p.Pro1342Leu) c.3923C>T (p.Pro1308Leu) n.362C>T c.1960-72C>T c.497C>T (p.Pro166Leu) c.3944C>T (p.Pro1315Leu) c.4004C>T (p.Pro1335Leu) c.3656C>T (p.Pro1219Leu) c.3485C>T (p.Pro1162Leu) c.3371C>T (p.Pro1124Leu) c.2933C>T (p.Pro978Leu) n.4201C>T | |
3 | g.47000125T>A | CA433598347 | NBEAL2 | c.4026T>A (p.Pro1342=) c.3924T>A (p.Pro1308=) n.363T>A c.1960-71T>A c.498T>A (p.Pro166=) c.3945T>A (p.Pro1315=) c.4005T>A (p.Pro1335=) c.3657T>A (p.Pro1219=) c.3486T>A (p.Pro1162=) c.3372T>A (p.Pro1124=) c.2934T>A (p.Pro978=) n.4202T>A | |
3 | g.47000125T>C | CA2361127 | NBEAL2 | c.4026T>C (p.Pro1342=) c.3924T>C (p.Pro1308=) n.363T>C c.1960-71T>C c.498T>C (p.Pro166=) c.3945T>C (p.Pro1315=) c.4005T>C (p.Pro1335=) c.3657T>C (p.Pro1219=) c.3486T>C (p.Pro1162=) c.3372T>C (p.Pro1124=) c.2934T>C (p.Pro978=) n.4202T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000125T>G | CA433598349 | NBEAL2 | c.4026T>G (p.Pro1342=) c.3924T>G (p.Pro1308=) n.363T>G c.1960-71T>G c.498T>G (p.Pro166=) c.3945T>G (p.Pro1315=) c.4005T>G (p.Pro1335=) c.3657T>G (p.Pro1219=) c.3486T>G (p.Pro1162=) c.3372T>G (p.Pro1124=) c.2934T>G (p.Pro978=) n.4202T>G | |
3 | g.47000125T= | CA1362363030 | NBEAL2 | c.4026T= (p.Pro1342=) c.3924T= (p.Pro1308=) n.363T= c.1960-71T= c.498T= (p.Pro166=) c.3945T= (p.Pro1315=) c.4005T= (p.Pro1335=) c.3657T= (p.Pro1219=) c.3486T= (p.Pro1162=) c.3372T= (p.Pro1124=) c.2934T= (p.Pro978=) n.4202T= | |
3 | g.47000126G>A | CA352516756 | NBEAL2 | c.4027G>A (p.Asp1343Asn) c.3925G>A (p.Asp1309Asn) n.364G>A c.1960-70G>A c.499G>A (p.Asp167Asn) c.3946G>A (p.Asp1316Asn) c.4006G>A (p.Asp1336Asn) c.3658G>A (p.Asp1220Asn) c.3487G>A (p.Asp1163Asn) c.3373G>A (p.Asp1125Asn) c.2935G>A (p.Asp979Asn) n.4203G>A | dbSNP gnomAD v4 |
3 | g.47000126G>C | CA352516757 | NBEAL2 | c.4027G>C (p.Asp1343His) c.3925G>C (p.Asp1309His) n.364G>C c.1960-70G>C c.499G>C (p.Asp167His) c.3946G>C (p.Asp1316His) c.4006G>C (p.Asp1336His) c.3658G>C (p.Asp1220His) c.3487G>C (p.Asp1163His) c.3373G>C (p.Asp1125His) c.2935G>C (p.Asp979His) n.4203G>C | |
3 | g.47000126G= | CA1362363031 | NBEAL2 | c.4027G= (p.Asp1343=) c.3925G= (p.Asp1309=) n.364G= c.1960-70G= c.499G= (p.Asp167=) c.3946G= (p.Asp1316=) c.4006G= (p.Asp1336=) c.3658G= (p.Asp1220=) c.3487G= (p.Asp1163=) c.3373G= (p.Asp1125=) c.2935G= (p.Asp979=) n.4203G= | |
3 | g.47000126G>T | CA352516758 | NBEAL2 | c.4027G>T (p.Asp1343Tyr) c.3925G>T (p.Asp1309Tyr) n.364G>T c.1960-70G>T c.499G>T (p.Asp167Tyr) c.3946G>T (p.Asp1316Tyr) c.4006G>T (p.Asp1336Tyr) c.3658G>T (p.Asp1220Tyr) c.3487G>T (p.Asp1163Tyr) c.3373G>T (p.Asp1125Tyr) c.2935G>T (p.Asp979Tyr) n.4203G>T | |
3 | g.47000127A>C | CA352516759 | NBEAL2 | c.4028A>C (p.Asp1343Ala) c.3926A>C (p.Asp1309Ala) n.365A>C c.1960-69A>C c.500A>C (p.Asp167Ala) c.3947A>C (p.Asp1316Ala) c.4007A>C (p.Asp1336Ala) c.3659A>C (p.Asp1220Ala) c.3488A>C (p.Asp1163Ala) c.3374A>C (p.Asp1125Ala) c.2936A>C (p.Asp979Ala) n.4204A>C | |
3 | g.47000127A>G | CA352516760 | NBEAL2 | c.4028A>G (p.Asp1343Gly) c.3926A>G (p.Asp1309Gly) n.365A>G c.1960-69A>G c.500A>G (p.Asp167Gly) c.3947A>G (p.Asp1316Gly) c.4007A>G (p.Asp1336Gly) c.3659A>G (p.Asp1220Gly) c.3488A>G (p.Asp1163Gly) c.3374A>G (p.Asp1125Gly) c.2936A>G (p.Asp979Gly) n.4204A>G | |
3 | g.47000127A>T | CA352516761 | NBEAL2 | c.4028A>T (p.Asp1343Val) c.3926A>T (p.Asp1309Val) n.365A>T c.1960-69A>T c.500A>T (p.Asp167Val) c.3947A>T (p.Asp1316Val) c.4007A>T (p.Asp1336Val) c.3659A>T (p.Asp1220Val) c.3488A>T (p.Asp1163Val) c.3374A>T (p.Asp1125Val) c.2936A>T (p.Asp979Val) n.4204A>T | |
3 | g.47000127dup | CA2577577260 | NBEAL2 | c.4028dup (p.Asp1343GlufsTer15) c.3926dup (p.Asp1309GlufsTer15) n.365dup c.1960-69dup c.500dup (p.Asp167GlufsTer15) c.3947dup (p.Asp1316GlufsTer15) c.4007dup (p.Asp1336GlufsTer15) c.3659dup (p.Asp1220GlufsTer15) c.3488dup (p.Asp1163GlufsTer15) c.3374dup (p.Asp1125GlufsTer15) c.2936dup (p.Asp979GlufsTer15) n.4204dup | gnomAD v4 |
3 | g.47000128T>A | CA352516762 | NBEAL2 | c.4029T>A (p.Asp1343Glu) c.3927T>A (p.Asp1309Glu) n.366T>A c.1960-68T>A c.501T>A (p.Asp167Glu) c.3948T>A (p.Asp1316Glu) c.4008T>A (p.Asp1336Glu) c.3660T>A (p.Asp1220Glu) c.3489T>A (p.Asp1163Glu) c.3375T>A (p.Asp1125Glu) c.2937T>A (p.Asp979Glu) n.4205T>A | |
3 | g.47000128T>C | CA2361128 | NBEAL2 | c.4029T>C (p.Asp1343=) c.3927T>C (p.Asp1309=) n.366T>C c.1960-68T>C c.501T>C (p.Asp167=) c.3948T>C (p.Asp1316=) c.4008T>C (p.Asp1336=) c.3660T>C (p.Asp1220=) c.3489T>C (p.Asp1163=) c.3375T>C (p.Asp1125=) c.2937T>C (p.Asp979=) n.4205T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000128T>G | CA352516763 | NBEAL2 | c.4029T>G (p.Asp1343Glu) c.3927T>G (p.Asp1309Glu) n.366T>G c.1960-68T>G c.501T>G (p.Asp167Glu) c.3948T>G (p.Asp1316Glu) c.4008T>G (p.Asp1336Glu) c.3660T>G (p.Asp1220Glu) c.3489T>G (p.Asp1163Glu) c.3375T>G (p.Asp1125Glu) c.2937T>G (p.Asp979Glu) n.4205T>G | |
3 | g.47000128T= | CA1362363032 | NBEAL2 | c.4029T= (p.Asp1343=) c.3927T= (p.Asp1309=) n.366T= c.1960-68T= c.501T= (p.Asp167=) c.3948T= (p.Asp1316=) c.4008T= (p.Asp1336=) c.3660T= (p.Asp1220=) c.3489T= (p.Asp1163=) c.3375T= (p.Asp1125=) c.2937T= (p.Asp979=) n.4205T= | |
3 | g.47000129G>A | CA352516764 | NBEAL2 | c.4030G>A (p.Gly1344Ser) c.3928G>A (p.Gly1310Ser) n.367G>A c.1960-67G>A c.502G>A (p.Gly168Ser) c.3949G>A (p.Gly1317Ser) c.4009G>A (p.Gly1337Ser) c.3661G>A (p.Gly1221Ser) c.3490G>A (p.Gly1164Ser) c.3376G>A (p.Gly1126Ser) c.2938G>A (p.Gly980Ser) n.4206G>A | |
3 | g.47000129G>C | CA352516765 | NBEAL2 | c.4030G>C (p.Gly1344Arg) c.3928G>C (p.Gly1310Arg) n.367G>C c.1960-67G>C c.502G>C (p.Gly168Arg) c.3949G>C (p.Gly1317Arg) c.4009G>C (p.Gly1337Arg) c.3661G>C (p.Gly1221Arg) c.3490G>C (p.Gly1164Arg) c.3376G>C (p.Gly1126Arg) c.2938G>C (p.Gly980Arg) n.4206G>C | |
3 | g.47000129G>T | CA352516766 | NBEAL2 | c.4030G>T (p.Gly1344Cys) c.3928G>T (p.Gly1310Cys) n.367G>T c.1960-67G>T c.502G>T (p.Gly168Cys) c.3949G>T (p.Gly1317Cys) c.4009G>T (p.Gly1337Cys) c.3661G>T (p.Gly1221Cys) c.3490G>T (p.Gly1164Cys) c.3376G>T (p.Gly1126Cys) c.2938G>T (p.Gly980Cys) n.4206G>T | |
3 | g.47000130G>A | CA352516769 | NBEAL2 | c.4031G>A (p.Gly1344Asp) c.3929G>A (p.Gly1310Asp) n.368G>A c.1960-66G>A c.503G>A (p.Gly168Asp) c.3950G>A (p.Gly1317Asp) c.4010G>A (p.Gly1337Asp) c.3662G>A (p.Gly1221Asp) c.3491G>A (p.Gly1164Asp) c.3377G>A (p.Gly1126Asp) c.2939G>A (p.Gly980Asp) n.4207G>A | |
3 | g.47000130G>C | CA352516767 | NBEAL2 | c.4031G>C (p.Gly1344Ala) c.3929G>C (p.Gly1310Ala) n.368G>C c.1960-66G>C c.503G>C (p.Gly168Ala) c.3950G>C (p.Gly1317Ala) c.4010G>C (p.Gly1337Ala) c.3662G>C (p.Gly1221Ala) c.3491G>C (p.Gly1164Ala) c.3377G>C (p.Gly1126Ala) c.2939G>C (p.Gly980Ala) n.4207G>C | |
3 | g.47000130G>T | CA352516768 | NBEAL2 | c.4031G>T (p.Gly1344Val) c.3929G>T (p.Gly1310Val) n.368G>T c.1960-66G>T c.503G>T (p.Gly168Val) c.3950G>T (p.Gly1317Val) c.4010G>T (p.Gly1337Val) c.3662G>T (p.Gly1221Val) c.3491G>T (p.Gly1164Val) c.3377G>T (p.Gly1126Val) c.2939G>T (p.Gly980Val) n.4207G>T | |
3 | g.47000131C>A | CA433598355 | NBEAL2 | c.4032C>A (p.Gly1344=) c.3930C>A (p.Gly1310=) n.369C>A c.1960-65C>A c.504C>A (p.Gly168=) c.3951C>A (p.Gly1317=) c.4011C>A (p.Gly1337=) c.3663C>A (p.Gly1221=) c.3492C>A (p.Gly1164=) c.3378C>A (p.Gly1126=) c.2940C>A (p.Gly980=) n.4208C>A | |
3 | g.47000131C= | CA1362363033 | NBEAL2 | c.4032C= (p.Gly1344=) c.3930C= (p.Gly1310=) n.369C= c.1960-65C= c.504C= (p.Gly168=) c.3951C= (p.Gly1317=) c.4011C= (p.Gly1337=) c.3663C= (p.Gly1221=) c.3492C= (p.Gly1164=) c.3378C= (p.Gly1126=) c.2940C= (p.Gly980=) n.4208C= | |
3 | g.47000131C>G | CA433598356 | NBEAL2 | c.4032C>G (p.Gly1344=) c.3930C>G (p.Gly1310=) n.369C>G c.1960-65C>G c.504C>G (p.Gly168=) c.3951C>G (p.Gly1317=) c.4011C>G (p.Gly1337=) c.3663C>G (p.Gly1221=) c.3492C>G (p.Gly1164=) c.3378C>G (p.Gly1126=) c.2940C>G (p.Gly980=) n.4208C>G | |
3 | g.47000131C>T | CA2361129 | NBEAL2 | c.4032C>T (p.Gly1344=) c.3930C>T (p.Gly1310=) n.369C>T c.1960-65C>T c.504C>T (p.Gly168=) c.3951C>T (p.Gly1317=) c.4011C>T (p.Gly1337=) c.3663C>T (p.Gly1221=) c.3492C>T (p.Gly1164=) c.3378C>T (p.Gly1126=) c.2940C>T (p.Gly980=) n.4208C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.47000132T>A | CA352516770 | NBEAL2 | c.4033T>A (p.Phe1345Ile) c.3931T>A (p.Phe1311Ile) n.370T>A c.1960-64T>A c.505T>A (p.Phe169Ile) c.3952T>A (p.Phe1318Ile) c.4012T>A (p.Phe1338Ile) c.3664T>A (p.Phe1222Ile) c.3493T>A (p.Phe1165Ile) c.3379T>A (p.Phe1127Ile) c.2941T>A (p.Phe981Ile) n.4209T>A | gnomAD v4 |
3 | g.47000132T>C | CA352516771 | NBEAL2 | c.4033T>C (p.Phe1345Leu) c.3931T>C (p.Phe1311Leu) n.370T>C c.1960-64T>C c.505T>C (p.Phe169Leu) c.3952T>C (p.Phe1318Leu) c.4012T>C (p.Phe1338Leu) c.3664T>C (p.Phe1222Leu) c.3493T>C (p.Phe1165Leu) c.3379T>C (p.Phe1127Leu) c.2941T>C (p.Phe981Leu) n.4209T>C | |
3 | g.47000132T>G | CA352516772 | NBEAL2 | c.4033T>G (p.Phe1345Val) c.3931T>G (p.Phe1311Val) n.370T>G c.1960-64T>G c.505T>G (p.Phe169Val) c.3952T>G (p.Phe1318Val) c.4012T>G (p.Phe1338Val) c.3664T>G (p.Phe1222Val) c.3493T>G (p.Phe1165Val) c.3379T>G (p.Phe1127Val) c.2941T>G (p.Phe981Val) n.4209T>G | |
3 | g.47000135del | CA433598359 | NBEAL2 | c.4036del (p.Tyr1346ThrfsTer20) c.3934del (p.Tyr1312ThrfsTer20) n.373del c.1960-61del c.508del (p.Tyr170ThrfsTer20) c.3955del (p.Tyr1319ThrfsTer20) c.4015del (p.Tyr1339ThrfsTer20) c.3667del (p.Tyr1223ThrfsTer20) c.3496del (p.Tyr1166ThrfsTer20) c.3382del (p.Tyr1128ThrfsTer20) c.2944del (p.Tyr982ThrfsTer20) n.4212del | COSMIC |
3 | g.47000133T>A | CA352516773 | NBEAL2 | c.4034T>A (p.Phe1345Tyr) c.3932T>A (p.Phe1311Tyr) n.371T>A c.1960-63T>A c.506T>A (p.Phe169Tyr) c.3953T>A (p.Phe1318Tyr) c.4013T>A (p.Phe1338Tyr) c.3665T>A (p.Phe1222Tyr) c.3494T>A (p.Phe1165Tyr) c.3380T>A (p.Phe1127Tyr) c.2942T>A (p.Phe981Tyr) n.4210T>A | |
3 | g.47000133T>C | CA352516774 | NBEAL2 | c.4034T>C (p.Phe1345Ser) c.3932T>C (p.Phe1311Ser) n.371T>C c.1960-63T>C c.506T>C (p.Phe169Ser) c.3953T>C (p.Phe1318Ser) c.4013T>C (p.Phe1338Ser) c.3665T>C (p.Phe1222Ser) c.3494T>C (p.Phe1165Ser) c.3380T>C (p.Phe1127Ser) c.2942T>C (p.Phe981Ser) n.4210T>C | |
3 | g.47000133T>G | CA352516775 | NBEAL2 | c.4034T>G (p.Phe1345Cys) c.3932T>G (p.Phe1311Cys) n.371T>G c.1960-63T>G c.506T>G (p.Phe169Cys) c.3953T>G (p.Phe1318Cys) c.4013T>G (p.Phe1338Cys) c.3665T>G (p.Phe1222Cys) c.3494T>G (p.Phe1165Cys) c.3380T>G (p.Phe1127Cys) c.2942T>G (p.Phe981Cys) n.4210T>G | |
3 | g.47000134T>A | CA352516776 | NBEAL2 | c.4035T>A (p.Phe1345Leu) c.3933T>A (p.Phe1311Leu) n.372T>A c.1960-62T>A c.507T>A (p.Phe169Leu) c.3954T>A (p.Phe1318Leu) c.4014T>A (p.Phe1338Leu) c.3666T>A (p.Phe1222Leu) c.3495T>A (p.Phe1165Leu) c.3381T>A (p.Phe1127Leu) c.2943T>A (p.Phe981Leu) n.4211T>A | |
3 | g.47000134T>C | CA433598361 | NBEAL2 | c.4035T>C (p.Phe1345=) c.3933T>C (p.Phe1311=) n.372T>C c.1960-62T>C c.507T>C (p.Phe169=) c.3954T>C (p.Phe1318=) c.4014T>C (p.Phe1338=) c.3666T>C (p.Phe1222=) c.3495T>C (p.Phe1165=) c.3381T>C (p.Phe1127=) c.2943T>C (p.Phe981=) n.4211T>C | |
3 | g.47000134T>G | CA352516777 | NBEAL2 | c.4035T>G (p.Phe1345Leu) c.3933T>G (p.Phe1311Leu) n.372T>G c.1960-62T>G c.507T>G (p.Phe169Leu) c.3954T>G (p.Phe1318Leu) c.4014T>G (p.Phe1338Leu) c.3666T>G (p.Phe1222Leu) c.3495T>G (p.Phe1165Leu) c.3381T>G (p.Phe1127Leu) c.2943T>G (p.Phe981Leu) n.4211T>G | |
3 | g.47000135T>A | CA352516778 | NBEAL2 | c.4036T>A (p.Tyr1346Asn) c.3934T>A (p.Tyr1312Asn) n.373T>A c.1960-61T>A c.508T>A (p.Tyr170Asn) c.3955T>A (p.Tyr1319Asn) c.4015T>A (p.Tyr1339Asn) c.3667T>A (p.Tyr1223Asn) c.3496T>A (p.Tyr1166Asn) c.3382T>A (p.Tyr1128Asn) c.2944T>A (p.Tyr982Asn) n.4212T>A | |
3 | g.47000135T>C | CA352516779 | NBEAL2 | c.4036T>C (p.Tyr1346His) c.3934T>C (p.Tyr1312His) n.373T>C c.1960-61T>C c.508T>C (p.Tyr170His) c.3955T>C (p.Tyr1319His) c.4015T>C (p.Tyr1339His) c.3667T>C (p.Tyr1223His) c.3496T>C (p.Tyr1166His) c.3382T>C (p.Tyr1128His) c.2944T>C (p.Tyr982His) n.4212T>C | gnomAD v4 |
3 | g.47000135T>G | CA352516780 | NBEAL2 | c.4036T>G (p.Tyr1346Asp) c.3934T>G (p.Tyr1312Asp) n.373T>G c.1960-61T>G c.508T>G (p.Tyr170Asp) c.3955T>G (p.Tyr1319Asp) c.4015T>G (p.Tyr1339Asp) c.3667T>G (p.Tyr1223Asp) c.3496T>G (p.Tyr1166Asp) c.3382T>G (p.Tyr1128Asp) c.2944T>G (p.Tyr982Asp) n.4212T>G | |
3 | g.47000136A>C | CA352516783 | NBEAL2 | c.4037A>C (p.Tyr1346Ser) c.3935A>C (p.Tyr1312Ser) n.374A>C c.1960-60A>C c.509A>C (p.Tyr170Ser) c.3956A>C (p.Tyr1319Ser) c.4016A>C (p.Tyr1339Ser) c.3668A>C (p.Tyr1223Ser) c.3497A>C (p.Tyr1166Ser) c.3383A>C (p.Tyr1128Ser) c.2945A>C (p.Tyr982Ser) n.4213A>C | |
3 | g.47000136A>G | CA352516782 | NBEAL2 | c.4037A>G (p.Tyr1346Cys) c.3935A>G (p.Tyr1312Cys) n.374A>G c.1960-60A>G c.509A>G (p.Tyr170Cys) c.3956A>G (p.Tyr1319Cys) c.4016A>G (p.Tyr1339Cys) c.3668A>G (p.Tyr1223Cys) c.3497A>G (p.Tyr1166Cys) c.3383A>G (p.Tyr1128Cys) c.2945A>G (p.Tyr982Cys) n.4213A>G | |
3 | g.47000136A>T | CA352516781 | NBEAL2 | c.4037A>T (p.Tyr1346Phe) c.3935A>T (p.Tyr1312Phe) n.374A>T c.1960-60A>T c.509A>T (p.Tyr170Phe) c.3956A>T (p.Tyr1319Phe) c.4016A>T (p.Tyr1339Phe) c.3668A>T (p.Tyr1223Phe) c.3497A>T (p.Tyr1166Phe) c.3383A>T (p.Tyr1128Phe) c.2945A>T (p.Tyr982Phe) n.4213A>T | |
3 | g.47000137C>A | CA352516785 | NBEAL2 | c.4038C>A (p.Tyr1346Ter) c.3936C>A (p.Tyr1312Ter) n.375C>A c.1960-59C>A c.510C>A (p.Tyr170Ter) c.3957C>A (p.Tyr1319Ter) c.4017C>A (p.Tyr1339Ter) c.3669C>A (p.Tyr1223Ter) c.3498C>A (p.Tyr1166Ter) c.3384C>A (p.Tyr1128Ter) c.2946C>A (p.Tyr982Ter) n.4214C>A | |
3 | g.47000137C= | CA1362363034 | NBEAL2 | c.4038C= (p.Tyr1346=) c.3936C= (p.Tyr1312=) n.375C= c.1960-59C= c.510C= (p.Tyr170=) c.3957C= (p.Tyr1319=) c.4017C= (p.Tyr1339=) c.3669C= (p.Tyr1223=) c.3498C= (p.Tyr1166=) c.3384C= (p.Tyr1128=) c.2946C= (p.Tyr982=) n.4214C= | |
3 | g.47000137C>G | CA352516784 | NBEAL2 | c.4038C>G (p.Tyr1346Ter) c.3936C>G (p.Tyr1312Ter) n.375C>G c.1960-59C>G c.510C>G (p.Tyr170Ter) c.3957C>G (p.Tyr1319Ter) c.4017C>G (p.Tyr1339Ter) c.3669C>G (p.Tyr1223Ter) c.3498C>G (p.Tyr1166Ter) c.3384C>G (p.Tyr1128Ter) c.2946C>G (p.Tyr982Ter) n.4214C>G | |
3 | g.47000137C>T | CA2361130 | NBEAL2 | c.4038C>T (p.Tyr1346=) c.3936C>T (p.Tyr1312=) n.375C>T c.1960-59C>T c.510C>T (p.Tyr170=) c.3957C>T (p.Tyr1319=) c.4017C>T (p.Tyr1339=) c.3669C>T (p.Tyr1223=) c.3498C>T (p.Tyr1166=) c.3384C>T (p.Tyr1128=) c.2946C>T (p.Tyr982=) n.4214C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000138C>A | CA352516786 | NBEAL2 | c.4039C>A (p.His1347Asn) c.3937C>A (p.His1313Asn) n.376C>A c.1960-58C>A c.511C>A (p.His171Asn) c.3958C>A (p.His1320Asn) c.4018C>A (p.His1340Asn) c.3670C>A (p.His1224Asn) c.3499C>A (p.His1167Asn) c.3385C>A (p.His1129Asn) c.2947C>A (p.His983Asn) n.4215C>A | |
3 | g.47000138C>G | CA352516787 | NBEAL2 | c.4039C>G (p.His1347Asp) c.3937C>G (p.His1313Asp) n.376C>G c.1960-58C>G c.511C>G (p.His171Asp) c.3958C>G (p.His1320Asp) c.4018C>G (p.His1340Asp) c.3670C>G (p.His1224Asp) c.3499C>G (p.His1167Asp) c.3385C>G (p.His1129Asp) c.2947C>G (p.His983Asp) n.4215C>G | gnomAD v4 |
3 | g.47000138C>T | CA352516788 | NBEAL2 | c.4039C>T (p.His1347Tyr) c.3937C>T (p.His1313Tyr) n.376C>T c.1960-58C>T c.511C>T (p.His171Tyr) c.3958C>T (p.His1320Tyr) c.4018C>T (p.His1340Tyr) c.3670C>T (p.His1224Tyr) c.3499C>T (p.His1167Tyr) c.3385C>T (p.His1129Tyr) c.2947C>T (p.His983Tyr) n.4215C>T | |
3 | g.47000139A>C | CA352516789 | NBEAL2 | c.4040A>C (p.His1347Pro) c.3938A>C (p.His1313Pro) n.377A>C c.1960-57A>C c.512A>C (p.His171Pro) c.3959A>C (p.His1320Pro) c.4019A>C (p.His1340Pro) c.3671A>C (p.His1224Pro) c.3500A>C (p.His1167Pro) c.3386A>C (p.His1129Pro) c.2948A>C (p.His983Pro) n.4216A>C | |
3 | g.47000139A>G | CA352516790 | NBEAL2 | c.4040A>G (p.His1347Arg) c.3938A>G (p.His1313Arg) n.377A>G c.1960-57A>G c.512A>G (p.His171Arg) c.3959A>G (p.His1320Arg) c.4019A>G (p.His1340Arg) c.3671A>G (p.His1224Arg) c.3500A>G (p.His1167Arg) c.3386A>G (p.His1129Arg) c.2948A>G (p.His983Arg) n.4216A>G | |
3 | g.47000139A>T | CA352516791 | NBEAL2 | c.4040A>T (p.His1347Leu) c.3938A>T (p.His1313Leu) n.377A>T c.1960-57A>T c.512A>T (p.His171Leu) c.3959A>T (p.His1320Leu) c.4019A>T (p.His1340Leu) c.3671A>T (p.His1224Leu) c.3500A>T (p.His1167Leu) c.3386A>T (p.His1129Leu) c.2948A>T (p.His983Leu) n.4216A>T | |
3 | g.47000140T>A | CA352516792 | NBEAL2 | c.4041T>A (p.His1347Gln) c.3939T>A (p.His1313Gln) n.378T>A c.1960-56T>A c.513T>A (p.His171Gln) c.3960T>A (p.His1320Gln) c.4020T>A (p.His1340Gln) c.3672T>A (p.His1224Gln) c.3501T>A (p.His1167Gln) c.3387T>A (p.His1129Gln) c.2949T>A (p.His983Gln) n.4217T>A | gnomAD v4 |
3 | g.47000140T>C | CA2361131 | NBEAL2 | c.4041T>C (p.His1347=) c.3939T>C (p.His1313=) n.378T>C c.1960-56T>C c.513T>C (p.His171=) c.3960T>C (p.His1320=) c.4020T>C (p.His1340=) c.3672T>C (p.His1224=) c.3501T>C (p.His1167=) c.3387T>C (p.His1129=) c.2949T>C (p.His983=) n.4217T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000140T>G | CA352516793 | NBEAL2 | c.4041T>G (p.His1347Gln) c.3939T>G (p.His1313Gln) n.378T>G c.1960-56T>G c.513T>G (p.His171Gln) c.3960T>G (p.His1320Gln) c.4020T>G (p.His1340Gln) c.3672T>G (p.His1224Gln) c.3501T>G (p.His1167Gln) c.3387T>G (p.His1129Gln) c.2949T>G (p.His983Gln) n.4217T>G | |
3 | g.47000140T= | CA1362363035 | NBEAL2 | c.4041T= (p.His1347=) c.3939T= (p.His1313=) n.378T= c.1960-56T= c.513T= (p.His171=) c.3960T= (p.His1320=) c.4020T= (p.His1340=) c.3672T= (p.His1224=) c.3501T= (p.His1167=) c.3387T= (p.His1129=) c.2949T= (p.His983=) n.4217T= | |
3 | g.47000141G>A | CA352516794 | NBEAL2 | c.4042G>A (p.Ala1348Thr) c.3940G>A (p.Ala1314Thr) n.379G>A c.1960-55G>A c.514G>A (p.Ala172Thr) c.3961G>A (p.Ala1321Thr) c.4021G>A (p.Ala1341Thr) c.3673G>A (p.Ala1225Thr) c.3502G>A (p.Ala1168Thr) c.3388G>A (p.Ala1130Thr) c.2950G>A (p.Ala984Thr) n.4218G>A | |
3 | g.47000141G>C | CA352516795 | NBEAL2 | c.4042G>C (p.Ala1348Pro) c.3940G>C (p.Ala1314Pro) n.379G>C c.1960-55G>C c.514G>C (p.Ala172Pro) c.3961G>C (p.Ala1321Pro) c.4021G>C (p.Ala1341Pro) c.3673G>C (p.Ala1225Pro) c.3502G>C (p.Ala1168Pro) c.3388G>C (p.Ala1130Pro) c.2950G>C (p.Ala984Pro) n.4218G>C | |
3 | g.47000141G>T | CA352516796 | NBEAL2 | c.4042G>T (p.Ala1348Ser) c.3940G>T (p.Ala1314Ser) n.379G>T c.1960-55G>T c.514G>T (p.Ala172Ser) c.3961G>T (p.Ala1321Ser) c.4021G>T (p.Ala1341Ser) c.3673G>T (p.Ala1225Ser) c.3502G>T (p.Ala1168Ser) c.3388G>T (p.Ala1130Ser) c.2950G>T (p.Ala984Ser) n.4218G>T | |
3 | g.47000141_47000143delinsGCT | CA1362363036 | NBEAL2 | c.4042_4044delinsGCT (p.Ala1348=) c.3940_3942delinsGCT (p.Ala1314=) n.379_381delinsGCT c.1960-55_1960-53delinsGCT c.514_516delinsGCT (p.Ala172=) c.3961_3963delinsGCT (p.Ala1321=) c.4021_4023delinsGCT (p.Ala1341=) c.3673_3675delinsGCT (p.Ala1225=) c.3502_3504delinsGCT (p.Ala1168=) c.3388_3390delinsGCT (p.Ala1130=) c.2950_2952delinsGCT (p.Ala984=) n.4218_4220delinsGCT | |
3 | g.47000142C>A | CA352516799 | NBEAL2 | c.4043C>A (p.Ala1348Asp) c.3941C>A (p.Ala1314Asp) n.380C>A c.1960-54C>A c.515C>A (p.Ala172Asp) c.3962C>A (p.Ala1321Asp) c.4022C>A (p.Ala1341Asp) c.3674C>A (p.Ala1225Asp) c.3503C>A (p.Ala1168Asp) c.3389C>A (p.Ala1130Asp) c.2951C>A (p.Ala984Asp) n.4219C>A | COSMIC |
3 | g.47000142C>G | CA352516797 | NBEAL2 | c.4043C>G (p.Ala1348Gly) c.3941C>G (p.Ala1314Gly) n.380C>G c.1960-54C>G c.515C>G (p.Ala172Gly) c.3962C>G (p.Ala1321Gly) c.4022C>G (p.Ala1341Gly) c.3674C>G (p.Ala1225Gly) c.3503C>G (p.Ala1168Gly) c.3389C>G (p.Ala1130Gly) c.2951C>G (p.Ala984Gly) n.4219C>G | |
3 | g.47000142C>T | CA352516798 | NBEAL2 | c.4043C>T (p.Ala1348Val) c.3941C>T (p.Ala1314Val) n.380C>T c.1960-54C>T c.515C>T (p.Ala172Val) c.3962C>T (p.Ala1321Val) c.4022C>T (p.Ala1341Val) c.3674C>T (p.Ala1225Val) c.3503C>T (p.Ala1168Val) c.3389C>T (p.Ala1130Val) c.2951C>T (p.Ala984Val) n.4219C>T | |
3 | g.47000147_47000148del | CA1362363037 | NBEAL2 | c.4048_4049del (p.Ser1350ProfsTer7) c.3946_3947del (p.Ser1316ProfsTer7) n.385_386del c.1960-49_1960-48del c.520_521del (p.Ser174ProfsTer7) c.3967_3968del (p.Ser1323ProfsTer7) c.4027_4028del (p.Ser1343ProfsTer7) c.3679_3680del (p.Ser1227ProfsTer7) c.3508_3509del (p.Ser1170ProfsTer7) c.3394_3395del (p.Ser1132ProfsTer7) c.2956_2957del (p.Ser986ProfsTer7) n.4224_4225del | |
3 | g.47000143T>A | CA433598369 | NBEAL2 | c.4044T>A (p.Ala1348=) c.3942T>A (p.Ala1314=) n.381T>A c.1960-53T>A c.516T>A (p.Ala172=) c.3963T>A (p.Ala1321=) c.4023T>A (p.Ala1341=) c.3675T>A (p.Ala1225=) c.3504T>A (p.Ala1168=) c.3390T>A (p.Ala1130=) c.2952T>A (p.Ala984=) n.4220T>A | |
3 | g.47000143T>C | CA2361132 | NBEAL2 | c.4044T>C (p.Ala1348=) c.3942T>C (p.Ala1314=) n.381T>C c.1960-53T>C c.516T>C (p.Ala172=) c.3963T>C (p.Ala1321=) c.4023T>C (p.Ala1341=) c.3675T>C (p.Ala1225=) c.3504T>C (p.Ala1168=) c.3390T>C (p.Ala1130=) c.2952T>C (p.Ala984=) n.4220T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000143T>G | CA433598371 | NBEAL2 | c.4044T>G (p.Ala1348=) c.3942T>G (p.Ala1314=) n.381T>G c.1960-53T>G c.516T>G (p.Ala172=) c.3963T>G (p.Ala1321=) c.4023T>G (p.Ala1341=) c.3675T>G (p.Ala1225=) c.3504T>G (p.Ala1168=) c.3390T>G (p.Ala1130=) c.2952T>G (p.Ala984=) n.4220T>G | |
3 | g.47000143T= | CA1362363038 | NBEAL2 | c.4044T= (p.Ala1348=) c.3942T= (p.Ala1314=) n.381T= c.1960-53T= c.516T= (p.Ala172=) c.3963T= (p.Ala1321=) c.4023T= (p.Ala1341=) c.3675T= (p.Ala1225=) c.3504T= (p.Ala1168=) c.3390T= (p.Ala1130=) c.2952T= (p.Ala984=) n.4220T= | |
3 | g.47000144C>A | CA352516800 | NBEAL2 | c.4045C>A (p.Leu1349Ile) c.3943C>A (p.Leu1315Ile) n.382C>A c.1960-52C>A c.517C>A (p.Leu173Ile) c.3964C>A (p.Leu1322Ile) c.4024C>A (p.Leu1342Ile) c.3676C>A (p.Leu1226Ile) c.3505C>A (p.Leu1169Ile) c.3391C>A (p.Leu1131Ile) c.2953C>A (p.Leu985Ile) n.4221C>A | |
3 | g.47000144C= | CA1362363039 | NBEAL2 | c.4045C= (p.Leu1349=) c.3943C= (p.Leu1315=) n.382C= c.1960-52C= c.517C= (p.Leu173=) c.3964C= (p.Leu1322=) c.4024C= (p.Leu1342=) c.3676C= (p.Leu1226=) c.3505C= (p.Leu1169=) c.3391C= (p.Leu1131=) c.2953C= (p.Leu985=) n.4221C= | |
3 | g.47000144C>G | CA2361133 | NBEAL2 | c.4045C>G (p.Leu1349Val) c.3943C>G (p.Leu1315Val) n.382C>G c.1960-52C>G c.517C>G (p.Leu173Val) c.3964C>G (p.Leu1322Val) c.4024C>G (p.Leu1342Val) c.3676C>G (p.Leu1226Val) c.3505C>G (p.Leu1169Val) c.3391C>G (p.Leu1131Val) c.2953C>G (p.Leu985Val) n.4221C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000144C>T | CA352516801 | NBEAL2 | c.4045C>T (p.Leu1349Phe) c.3943C>T (p.Leu1315Phe) n.382C>T c.1960-52C>T c.517C>T (p.Leu173Phe) c.3964C>T (p.Leu1322Phe) c.4024C>T (p.Leu1342Phe) c.3676C>T (p.Leu1226Phe) c.3505C>T (p.Leu1169Phe) c.3391C>T (p.Leu1131Phe) c.2953C>T (p.Leu985Phe) n.4221C>T | gnomAD v4 |
3 | g.47000145T>A | CA352516802 | NBEAL2 | c.4046T>A (p.Leu1349His) c.3944T>A (p.Leu1315His) n.383T>A c.1960-51T>A c.518T>A (p.Leu173His) c.3965T>A (p.Leu1322His) c.4025T>A (p.Leu1342His) c.3677T>A (p.Leu1226His) c.3506T>A (p.Leu1169His) c.3392T>A (p.Leu1131His) c.2954T>A (p.Leu985His) n.4222T>A | gnomAD v4 |
3 | g.47000145T>C | CA352516803 | NBEAL2 | c.4046T>C (p.Leu1349Pro) c.3944T>C (p.Leu1315Pro) n.383T>C c.1960-51T>C c.518T>C (p.Leu173Pro) c.3965T>C (p.Leu1322Pro) c.4025T>C (p.Leu1342Pro) c.3677T>C (p.Leu1226Pro) c.3506T>C (p.Leu1169Pro) c.3392T>C (p.Leu1131Pro) c.2954T>C (p.Leu985Pro) n.4222T>C | |
3 | g.47000145T>G | CA352516804 | NBEAL2 | c.4046T>G (p.Leu1349Arg) c.3944T>G (p.Leu1315Arg) n.383T>G c.1960-51T>G c.518T>G (p.Leu173Arg) c.3965T>G (p.Leu1322Arg) c.4025T>G (p.Leu1342Arg) c.3677T>G (p.Leu1226Arg) c.3506T>G (p.Leu1169Arg) c.3392T>G (p.Leu1131Arg) c.2954T>G (p.Leu985Arg) n.4222T>G | |
3 | g.47000146C>A | CA433598372 | NBEAL2 | c.4047C>A (p.Leu1349=) c.3945C>A (p.Leu1315=) n.384C>A c.1960-50C>A c.519C>A (p.Leu173=) c.3966C>A (p.Leu1322=) c.4026C>A (p.Leu1342=) c.3678C>A (p.Leu1226=) c.3507C>A (p.Leu1169=) c.3393C>A (p.Leu1131=) c.2955C>A (p.Leu985=) n.4223C>A | ClinVar dbSNP gnomAD v4 |
3 | g.47000146C= | CA1362363040 | NBEAL2 | c.4047C= (p.Leu1349=) c.3945C= (p.Leu1315=) n.384C= c.1960-50C= c.519C= (p.Leu173=) c.3966C= (p.Leu1322=) c.4026C= (p.Leu1342=) c.3678C= (p.Leu1226=) c.3507C= (p.Leu1169=) c.3393C= (p.Leu1131=) c.2955C= (p.Leu985=) n.4223C= | |
3 | g.47000146C>G | CA433598373 | NBEAL2 | c.4047C>G (p.Leu1349=) c.3945C>G (p.Leu1315=) n.384C>G c.1960-50C>G c.519C>G (p.Leu173=) c.3966C>G (p.Leu1322=) c.4026C>G (p.Leu1342=) c.3678C>G (p.Leu1226=) c.3507C>G (p.Leu1169=) c.3393C>G (p.Leu1131=) c.2955C>G (p.Leu985=) n.4223C>G | |
3 | g.47000146C>T | CA2361134 | NBEAL2 | c.4047C>T (p.Leu1349=) c.3945C>T (p.Leu1315=) n.384C>T c.1960-50C>T c.519C>T (p.Leu173=) c.3966C>T (p.Leu1322=) c.4026C>T (p.Leu1342=) c.3678C>T (p.Leu1226=) c.3507C>T (p.Leu1169=) c.3393C>T (p.Leu1131=) c.2955C>T (p.Leu985=) n.4223C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000147T>A | CA352516805 | NBEAL2 | c.4048T>A (p.Ser1350Thr) c.3946T>A (p.Ser1316Thr) n.385T>A c.1960-49T>A c.520T>A (p.Ser174Thr) c.3967T>A (p.Ser1323Thr) c.4027T>A (p.Ser1343Thr) c.3679T>A (p.Ser1227Thr) c.3508T>A (p.Ser1170Thr) c.3394T>A (p.Ser1132Thr) c.2956T>A (p.Ser986Thr) n.4224T>A | |
3 | g.47000147T>C | CA352516806 | NBEAL2 | c.4048T>C (p.Ser1350Pro) c.3946T>C (p.Ser1316Pro) n.385T>C c.1960-49T>C c.520T>C (p.Ser174Pro) c.3967T>C (p.Ser1323Pro) c.4027T>C (p.Ser1343Pro) c.3679T>C (p.Ser1227Pro) c.3508T>C (p.Ser1170Pro) c.3394T>C (p.Ser1132Pro) c.2956T>C (p.Ser986Pro) n.4224T>C | dbSNP |
3 | g.47000147T>G | CA352516807 | NBEAL2 | c.4048T>G (p.Ser1350Ala) c.3946T>G (p.Ser1316Ala) n.385T>G c.1960-49T>G c.520T>G (p.Ser174Ala) c.3967T>G (p.Ser1323Ala) c.4027T>G (p.Ser1343Ala) c.3679T>G (p.Ser1227Ala) c.3508T>G (p.Ser1170Ala) c.3394T>G (p.Ser1132Ala) c.2956T>G (p.Ser986Ala) n.4224T>G | |
3 | g.47000147T= | CA1362363041 | NBEAL2 | c.4048T= (p.Ser1350=) c.3946T= (p.Ser1316=) n.385T= c.1960-49T= c.520T= (p.Ser174=) c.3967T= (p.Ser1323=) c.4027T= (p.Ser1343=) c.3679T= (p.Ser1227=) c.3508T= (p.Ser1170=) c.3394T= (p.Ser1132=) c.2956T= (p.Ser986=) n.4224T= | |
3 | g.47000148C>A | CA352516808 | NBEAL2 | c.4049C>A (p.Ser1350Tyr) c.3947C>A (p.Ser1316Tyr) n.386C>A c.1960-48C>A c.521C>A (p.Ser174Tyr) c.3968C>A (p.Ser1323Tyr) c.4028C>A (p.Ser1343Tyr) c.3680C>A (p.Ser1227Tyr) c.3509C>A (p.Ser1170Tyr) c.3395C>A (p.Ser1132Tyr) c.2957C>A (p.Ser986Tyr) n.4225C>A | |
3 | g.47000148C= | CA1362363042 | NBEAL2 | c.4049C= (p.Ser1350=) c.3947C= (p.Ser1316=) n.386C= c.1960-48C= c.521C= (p.Ser174=) c.3968C= (p.Ser1323=) c.4028C= (p.Ser1343=) c.3680C= (p.Ser1227=) c.3509C= (p.Ser1170=) c.3395C= (p.Ser1132=) c.2957C= (p.Ser986=) n.4225C= | |
3 | g.47000148C>G | CA352516809 | NBEAL2 | c.4049C>G (p.Ser1350Cys) c.3947C>G (p.Ser1316Cys) n.386C>G c.1960-48C>G c.521C>G (p.Ser174Cys) c.3968C>G (p.Ser1323Cys) c.4028C>G (p.Ser1343Cys) c.3680C>G (p.Ser1227Cys) c.3509C>G (p.Ser1170Cys) c.3395C>G (p.Ser1132Cys) c.2957C>G (p.Ser986Cys) n.4225C>G | |
3 | g.47000148C>T | CA2361135 | NBEAL2 | c.4049C>T (p.Ser1350Phe) c.3947C>T (p.Ser1316Phe) n.386C>T c.1960-48C>T c.521C>T (p.Ser174Phe) c.3968C>T (p.Ser1323Phe) c.4028C>T (p.Ser1343Phe) c.3680C>T (p.Ser1227Phe) c.3509C>T (p.Ser1170Phe) c.3395C>T (p.Ser1132Phe) c.2957C>T (p.Ser986Phe) n.4225C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000149C>A | CA433598377 | NBEAL2 | c.4050C>A (p.Ser1350=) c.3948C>A (p.Ser1316=) n.387C>A c.1960-47C>A c.522C>A (p.Ser174=) c.3969C>A (p.Ser1323=) c.4029C>A (p.Ser1343=) c.3681C>A (p.Ser1227=) c.3510C>A (p.Ser1170=) c.3396C>A (p.Ser1132=) c.2958C>A (p.Ser986=) n.4226C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000149C= | CA1362363043 | NBEAL2 | c.4050C= (p.Ser1350=) c.3948C= (p.Ser1316=) n.387C= c.1960-47C= c.522C= (p.Ser174=) c.3969C= (p.Ser1323=) c.4029C= (p.Ser1343=) c.3681C= (p.Ser1227=) c.3510C= (p.Ser1170=) c.3396C= (p.Ser1132=) c.2958C= (p.Ser986=) n.4226C= | |
3 | g.47000149C>G | CA433598378 | NBEAL2 | c.4050C>G (p.Ser1350=) c.3948C>G (p.Ser1316=) n.387C>G c.1960-47C>G c.522C>G (p.Ser174=) c.3969C>G (p.Ser1323=) c.4029C>G (p.Ser1343=) c.3681C>G (p.Ser1227=) c.3510C>G (p.Ser1170=) c.3396C>G (p.Ser1132=) c.2958C>G (p.Ser986=) n.4226C>G | |
3 | g.47000149C>T | CA2361136 | NBEAL2 | c.4050C>T (p.Ser1350=) c.3948C>T (p.Ser1316=) n.387C>T c.1960-47C>T c.522C>T (p.Ser174=) c.3969C>T (p.Ser1323=) c.4029C>T (p.Ser1343=) c.3681C>T (p.Ser1227=) c.3510C>T (p.Ser1170=) c.3396C>T (p.Ser1132=) c.2958C>T (p.Ser986=) n.4226C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000150C>A | CA352516810 | NBEAL2 | c.4051C>A (p.Pro1351Thr) c.3949C>A (p.Pro1317Thr) n.388C>A c.1960-46C>A c.523C>A (p.Pro175Thr) c.3970C>A (p.Pro1324Thr) c.4030C>A (p.Pro1344Thr) c.3682C>A (p.Pro1228Thr) c.3511C>A (p.Pro1171Thr) c.3397C>A (p.Pro1133Thr) c.2959C>A (p.Pro987Thr) n.4227C>A | |
3 | g.47000150C>G | CA352516811 | NBEAL2 | c.4051C>G (p.Pro1351Ala) c.3949C>G (p.Pro1317Ala) n.388C>G c.1960-46C>G c.523C>G (p.Pro175Ala) c.3970C>G (p.Pro1324Ala) c.4030C>G (p.Pro1344Ala) c.3682C>G (p.Pro1228Ala) c.3511C>G (p.Pro1171Ala) c.3397C>G (p.Pro1133Ala) c.2959C>G (p.Pro987Ala) n.4227C>G | |
3 | g.47000150C>T | CA352516812 | NBEAL2 | c.4051C>T (p.Pro1351Ser) c.3949C>T (p.Pro1317Ser) n.388C>T c.1960-46C>T c.523C>T (p.Pro175Ser) c.3970C>T (p.Pro1324Ser) c.4030C>T (p.Pro1344Ser) c.3682C>T (p.Pro1228Ser) c.3511C>T (p.Pro1171Ser) c.3397C>T (p.Pro1133Ser) c.2959C>T (p.Pro987Ser) n.4227C>T | |
3 | g.47000151C>A | CA352516813 | NBEAL2 | c.4052C>A (p.Pro1351Gln) c.3950C>A (p.Pro1317Gln) n.389C>A c.1960-45C>A c.524C>A (p.Pro175Gln) c.3971C>A (p.Pro1324Gln) c.4031C>A (p.Pro1344Gln) c.3683C>A (p.Pro1228Gln) c.3512C>A (p.Pro1171Gln) c.3398C>A (p.Pro1133Gln) c.2960C>A (p.Pro987Gln) n.4228C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000151C= | CA1362363044 | NBEAL2 | c.4052C= (p.Pro1351=) c.3950C= (p.Pro1317=) n.389C= c.1960-45C= c.524C= (p.Pro175=) c.3971C= (p.Pro1324=) c.4031C= (p.Pro1344=) c.3683C= (p.Pro1228=) c.3512C= (p.Pro1171=) c.3398C= (p.Pro1133=) c.2960C= (p.Pro987=) n.4228C= | |
3 | g.47000151C>G | CA352516814 | NBEAL2 | c.4052C>G (p.Pro1351Arg) c.3950C>G (p.Pro1317Arg) n.389C>G c.1960-45C>G c.524C>G (p.Pro175Arg) c.3971C>G (p.Pro1324Arg) c.4031C>G (p.Pro1344Arg) c.3683C>G (p.Pro1228Arg) c.3512C>G (p.Pro1171Arg) c.3398C>G (p.Pro1133Arg) c.2960C>G (p.Pro987Arg) n.4228C>G | dbSNP |
3 | g.47000151C>T | CA352516815 | NBEAL2 | c.4052C>T (p.Pro1351Leu) c.3950C>T (p.Pro1317Leu) n.389C>T c.1960-45C>T c.524C>T (p.Pro175Leu) c.3971C>T (p.Pro1324Leu) c.4031C>T (p.Pro1344Leu) c.3683C>T (p.Pro1228Leu) c.3512C>T (p.Pro1171Leu) c.3398C>T (p.Pro1133Leu) c.2960C>T (p.Pro987Leu) n.4228C>T | |
3 | g.47000152A>C | CA433598380 | NBEAL2 | c.4053A>C (p.Pro1351=) c.3951A>C (p.Pro1317=) n.390A>C c.1960-44A>C c.525A>C (p.Pro175=) c.3972A>C (p.Pro1324=) c.4032A>C (p.Pro1344=) c.3684A>C (p.Pro1228=) c.3513A>C (p.Pro1171=) c.3399A>C (p.Pro1133=) c.2961A>C (p.Pro987=) n.4229A>C | |
3 | g.47000152A>G | CA433598381 | NBEAL2 | c.4053A>G (p.Pro1351=) c.3951A>G (p.Pro1317=) n.390A>G c.1960-44A>G c.525A>G (p.Pro175=) c.3972A>G (p.Pro1324=) c.4032A>G (p.Pro1344=) c.3684A>G (p.Pro1228=) c.3513A>G (p.Pro1171=) c.3399A>G (p.Pro1133=) c.2961A>G (p.Pro987=) n.4229A>G | |
3 | g.47000152A>T | CA433598382 | NBEAL2 | c.4053A>T (p.Pro1351=) c.3951A>T (p.Pro1317=) n.390A>T c.1960-44A>T c.525A>T (p.Pro175=) c.3972A>T (p.Pro1324=) c.4032A>T (p.Pro1344=) c.3684A>T (p.Pro1228=) c.3513A>T (p.Pro1171=) c.3399A>T (p.Pro1133=) c.2961A>T (p.Pro987=) n.4229A>T | |
3 | g.47000153T>A | CA352516816 | NBEAL2 | c.4054T>A (p.Phe1352Ile) c.3952T>A (p.Phe1318Ile) n.391T>A c.1960-43T>A c.526T>A (p.Phe176Ile) c.3973T>A (p.Phe1325Ile) c.4033T>A (p.Phe1345Ile) c.3685T>A (p.Phe1229Ile) c.3514T>A (p.Phe1172Ile) c.3400T>A (p.Phe1134Ile) c.2962T>A (p.Phe988Ile) n.4230T>A | |
3 | g.47000153T>C | CA352516817 | NBEAL2 | c.4054T>C (p.Phe1352Leu) c.3952T>C (p.Phe1318Leu) n.391T>C c.1960-43T>C c.526T>C (p.Phe176Leu) c.3973T>C (p.Phe1325Leu) c.4033T>C (p.Phe1345Leu) c.3685T>C (p.Phe1229Leu) c.3514T>C (p.Phe1172Leu) c.3400T>C (p.Phe1134Leu) c.2962T>C (p.Phe988Leu) n.4230T>C | |
3 | g.47000153T>G | CA352516818 | NBEAL2 | c.4054T>G (p.Phe1352Val) c.3952T>G (p.Phe1318Val) n.391T>G c.1960-43T>G c.526T>G (p.Phe176Val) c.3973T>G (p.Phe1325Val) c.4033T>G (p.Phe1345Val) c.3685T>G (p.Phe1229Val) c.3514T>G (p.Phe1172Val) c.3400T>G (p.Phe1134Val) c.2962T>G (p.Phe988Val) n.4230T>G | |
3 | g.47000154T>A | CA352516819 | NBEAL2 | c.4055T>A (p.Phe1352Tyr) c.3953T>A (p.Phe1318Tyr) n.392T>A c.1960-42T>A c.527T>A (p.Phe176Tyr) c.3974T>A (p.Phe1325Tyr) c.4034T>A (p.Phe1345Tyr) c.3686T>A (p.Phe1229Tyr) c.3515T>A (p.Phe1172Tyr) c.3401T>A (p.Phe1134Tyr) c.2963T>A (p.Phe988Tyr) n.4231T>A | |
3 | g.47000154T>C | CA352516820 | NBEAL2 | c.4055T>C (p.Phe1352Ser) c.3953T>C (p.Phe1318Ser) n.392T>C c.1960-42T>C c.527T>C (p.Phe176Ser) c.3974T>C (p.Phe1325Ser) c.4034T>C (p.Phe1345Ser) c.3686T>C (p.Phe1229Ser) c.3515T>C (p.Phe1172Ser) c.3401T>C (p.Phe1134Ser) c.2963T>C (p.Phe988Ser) n.4231T>C | |
3 | g.47000154T>G | CA352516821 | NBEAL2 | c.4055T>G (p.Phe1352Cys) c.3953T>G (p.Phe1318Cys) n.392T>G c.1960-42T>G c.527T>G (p.Phe176Cys) c.3974T>G (p.Phe1325Cys) c.4034T>G (p.Phe1345Cys) c.3686T>G (p.Phe1229Cys) c.3515T>G (p.Phe1172Cys) c.3401T>G (p.Phe1134Cys) c.2963T>G (p.Phe988Cys) n.4231T>G |