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.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 | |
3 | g.47000155C>A | CA352516823 | NBEAL2 | c.4056C>A (p.Phe1352Leu) c.3954C>A (p.Phe1318Leu) n.393C>A c.1960-41C>A c.528C>A (p.Phe176Leu) c.3975C>A (p.Phe1325Leu) c.4035C>A (p.Phe1345Leu) c.3687C>A (p.Phe1229Leu) c.3516C>A (p.Phe1172Leu) c.3402C>A (p.Phe1134Leu) c.2964C>A (p.Phe988Leu) n.4232C>A | |
3 | g.47000155C= | CA1362363045 | NBEAL2 | c.4056C= (p.Phe1352=) c.3954C= (p.Phe1318=) n.393C= c.1960-41C= c.528C= (p.Phe176=) c.3975C= (p.Phe1325=) c.4035C= (p.Phe1345=) c.3687C= (p.Phe1229=) c.3516C= (p.Phe1172=) c.3402C= (p.Phe1134=) c.2964C= (p.Phe988=) n.4232C= | |
3 | g.47000155C>G | CA352516822 | NBEAL2 | c.4056C>G (p.Phe1352Leu) c.3954C>G (p.Phe1318Leu) n.393C>G c.1960-41C>G c.528C>G (p.Phe176Leu) c.3975C>G (p.Phe1325Leu) c.4035C>G (p.Phe1345Leu) c.3687C>G (p.Phe1229Leu) c.3516C>G (p.Phe1172Leu) c.3402C>G (p.Phe1134Leu) c.2964C>G (p.Phe988Leu) n.4232C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000155C>T | CA433598385 | NBEAL2 | c.4056C>T (p.Phe1352=) c.3954C>T (p.Phe1318=) n.393C>T c.1960-41C>T c.528C>T (p.Phe176=) c.3975C>T (p.Phe1325=) c.4035C>T (p.Phe1345=) c.3687C>T (p.Phe1229=) c.3516C>T (p.Phe1172=) c.3402C>T (p.Phe1134=) c.2964C>T (p.Phe988=) n.4232C>T | COSMIC |
3 | g.47000156T>A | CA352516824 | NBEAL2 | c.4057T>A (p.Cys1353Ser) c.3955T>A (p.Cys1319Ser) n.394T>A c.1960-40T>A c.529T>A (p.Cys177Ser) c.3976T>A (p.Cys1326Ser) c.4036T>A (p.Cys1346Ser) c.3688T>A (p.Cys1230Ser) c.3517T>A (p.Cys1173Ser) c.3403T>A (p.Cys1135Ser) c.2965T>A (p.Cys989Ser) n.4233T>A | |
3 | g.47000156T>C | CA352516825 | NBEAL2 | c.4057T>C (p.Cys1353Arg) c.3955T>C (p.Cys1319Arg) n.394T>C c.1960-40T>C c.529T>C (p.Cys177Arg) c.3976T>C (p.Cys1326Arg) c.4036T>C (p.Cys1346Arg) c.3688T>C (p.Cys1230Arg) c.3517T>C (p.Cys1173Arg) c.3403T>C (p.Cys1135Arg) c.2965T>C (p.Cys989Arg) n.4233T>C | |
3 | g.47000156T>G | CA352516826 | NBEAL2 | c.4057T>G (p.Cys1353Gly) c.3955T>G (p.Cys1319Gly) n.394T>G c.1960-40T>G c.529T>G (p.Cys177Gly) c.3976T>G (p.Cys1326Gly) c.4036T>G (p.Cys1346Gly) c.3688T>G (p.Cys1230Gly) c.3517T>G (p.Cys1173Gly) c.3403T>G (p.Cys1135Gly) c.2965T>G (p.Cys989Gly) n.4233T>G | |
3 | g.47000157G>A | CA352516827 | NBEAL2 | c.4058G>A (p.Cys1353Tyr) c.3956G>A (p.Cys1319Tyr) n.395G>A c.1960-39G>A c.530G>A (p.Cys177Tyr) c.3977G>A (p.Cys1326Tyr) c.4037G>A (p.Cys1346Tyr) c.3689G>A (p.Cys1230Tyr) c.3518G>A (p.Cys1173Tyr) c.3404G>A (p.Cys1135Tyr) c.2966G>A (p.Cys989Tyr) n.4234G>A | |
3 | g.47000157G>C | CA352516828 | NBEAL2 | c.4058G>C (p.Cys1353Ser) c.3956G>C (p.Cys1319Ser) n.395G>C c.1960-39G>C c.530G>C (p.Cys177Ser) c.3977G>C (p.Cys1326Ser) c.4037G>C (p.Cys1346Ser) c.3689G>C (p.Cys1230Ser) c.3518G>C (p.Cys1173Ser) c.3404G>C (p.Cys1135Ser) c.2966G>C (p.Cys989Ser) n.4234G>C | |
3 | g.47000157G>T | CA352516829 | NBEAL2 | c.4058G>T (p.Cys1353Phe) c.3956G>T (p.Cys1319Phe) n.395G>T c.1960-39G>T c.530G>T (p.Cys177Phe) c.3977G>T (p.Cys1326Phe) c.4037G>T (p.Cys1346Phe) c.3689G>T (p.Cys1230Phe) c.3518G>T (p.Cys1173Phe) c.3404G>T (p.Cys1135Phe) c.2966G>T (p.Cys989Phe) n.4234G>T | |
3 | g.47000158C>A | CA352516831 | NBEAL2 | c.4059C>A (p.Cys1353Ter) c.3957C>A (p.Cys1319Ter) n.396C>A c.1960-38C>A c.531C>A (p.Cys177Ter) c.3978C>A (p.Cys1326Ter) c.4038C>A (p.Cys1346Ter) c.3690C>A (p.Cys1230Ter) c.3519C>A (p.Cys1173Ter) c.3405C>A (p.Cys1135Ter) c.2967C>A (p.Cys989Ter) n.4235C>A | |
3 | g.47000158C>G | CA352516830 | NBEAL2 | c.4059C>G (p.Cys1353Trp) c.3957C>G (p.Cys1319Trp) n.396C>G c.1960-38C>G c.531C>G (p.Cys177Trp) c.3978C>G (p.Cys1326Trp) c.4038C>G (p.Cys1346Trp) c.3690C>G (p.Cys1230Trp) c.3519C>G (p.Cys1173Trp) c.3405C>G (p.Cys1135Trp) c.2967C>G (p.Cys989Trp) n.4235C>G | |
3 | g.47000158C>T | CA433598389 | NBEAL2 | c.4059C>T (p.Cys1353=) c.3957C>T (p.Cys1319=) n.396C>T c.1960-38C>T c.531C>T (p.Cys177=) c.3978C>T (p.Cys1326=) c.4038C>T (p.Cys1346=) c.3690C>T (p.Cys1230=) c.3519C>T (p.Cys1173=) c.3405C>T (p.Cys1135=) c.2967C>T (p.Cys989=) n.4235C>T | |
3 | g.47000159A>C | CA352516832 | NBEAL2 | c.4060A>C (p.Thr1354Pro) c.3958A>C (p.Thr1320Pro) n.397A>C c.1960-37A>C c.532A>C (p.Thr178Pro) c.3979A>C (p.Thr1327Pro) c.4039A>C (p.Thr1347Pro) c.3691A>C (p.Thr1231Pro) c.3520A>C (p.Thr1174Pro) c.3406A>C (p.Thr1136Pro) c.2968A>C (p.Thr990Pro) n.4236A>C | |
3 | g.47000159A>G | CA352516833 | NBEAL2 | c.4060A>G (p.Thr1354Ala) c.3958A>G (p.Thr1320Ala) n.397A>G c.1960-37A>G c.532A>G (p.Thr178Ala) c.3979A>G (p.Thr1327Ala) c.4039A>G (p.Thr1347Ala) c.3691A>G (p.Thr1231Ala) c.3520A>G (p.Thr1174Ala) c.3406A>G (p.Thr1136Ala) c.2968A>G (p.Thr990Ala) n.4236A>G | |
3 | g.47000159A>T | CA352516834 | NBEAL2 | c.4060A>T (p.Thr1354Ser) c.3958A>T (p.Thr1320Ser) n.397A>T c.1960-37A>T c.532A>T (p.Thr178Ser) c.3979A>T (p.Thr1327Ser) c.4039A>T (p.Thr1347Ser) c.3691A>T (p.Thr1231Ser) c.3520A>T (p.Thr1174Ser) c.3406A>T (p.Thr1136Ser) c.2968A>T (p.Thr990Ser) n.4236A>T | |
3 | g.47000160C>A | CA352516835 | NBEAL2 | c.4061C>A (p.Thr1354Lys) c.3959C>A (p.Thr1320Lys) n.398C>A c.1960-36C>A c.533C>A (p.Thr178Lys) c.3980C>A (p.Thr1327Lys) c.4040C>A (p.Thr1347Lys) c.3692C>A (p.Thr1231Lys) c.3521C>A (p.Thr1174Lys) c.3407C>A (p.Thr1136Lys) c.2969C>A (p.Thr990Lys) n.4237C>A | |
3 | g.47000160C= | CA1362363046 | NBEAL2 | c.4061C= (p.Thr1354=) c.3959C= (p.Thr1320=) n.398C= c.1960-36C= c.533C= (p.Thr178=) c.3980C= (p.Thr1327=) c.4040C= (p.Thr1347=) c.3692C= (p.Thr1231=) c.3521C= (p.Thr1174=) c.3407C= (p.Thr1136=) c.2969C= (p.Thr990=) n.4237C= | |
3 | g.47000160C>G | CA352516836 | NBEAL2 | c.4061C>G (p.Thr1354Arg) c.3959C>G (p.Thr1320Arg) n.398C>G c.1960-36C>G c.533C>G (p.Thr178Arg) c.3980C>G (p.Thr1327Arg) c.4040C>G (p.Thr1347Arg) c.3692C>G (p.Thr1231Arg) c.3521C>G (p.Thr1174Arg) c.3407C>G (p.Thr1136Arg) c.2969C>G (p.Thr990Arg) n.4237C>G | |
3 | g.47000160C>T | CA2361137 | NBEAL2 | c.4061C>T (p.Thr1354Met) c.3959C>T (p.Thr1320Met) n.398C>T c.1960-36C>T c.533C>T (p.Thr178Met) c.3980C>T (p.Thr1327Met) c.4040C>T (p.Thr1347Met) c.3692C>T (p.Thr1231Met) c.3521C>T (p.Thr1174Met) c.3407C>T (p.Thr1136Met) c.2969C>T (p.Thr990Met) n.4237C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000161G>A | CA73817774 | NBEAL2 | c.4062G>A (p.Thr1354=) c.3960G>A (p.Thr1320=) n.399G>A c.1960-35G>A c.534G>A (p.Thr178=) c.3981G>A (p.Thr1327=) c.4041G>A (p.Thr1347=) c.3693G>A (p.Thr1231=) c.3522G>A (p.Thr1174=) c.3408G>A (p.Thr1136=) c.2970G>A (p.Thr990=) n.4238G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.47000161G>C | CA433598394 | NBEAL2 | c.4062G>C (p.Thr1354=) c.3960G>C (p.Thr1320=) n.399G>C c.1960-35G>C c.534G>C (p.Thr178=) c.3981G>C (p.Thr1327=) c.4041G>C (p.Thr1347=) c.3693G>C (p.Thr1231=) c.3522G>C (p.Thr1174=) c.3408G>C (p.Thr1136=) c.2970G>C (p.Thr990=) n.4238G>C | |
3 | g.47000161G= | CA1362363047 | NBEAL2 | c.4062G= (p.Thr1354=) c.3960G= (p.Thr1320=) n.399G= c.1960-35G= c.534G= (p.Thr178=) c.3981G= (p.Thr1327=) c.4041G= (p.Thr1347=) c.3693G= (p.Thr1231=) c.3522G= (p.Thr1174=) c.3408G= (p.Thr1136=) c.2970G= (p.Thr990=) n.4238G= | |
3 | g.47000161G>T | CA2361138 | NBEAL2 | c.4062G>T (p.Thr1354=) c.3960G>T (p.Thr1320=) n.399G>T c.1960-35G>T c.534G>T (p.Thr178=) c.3981G>T (p.Thr1327=) c.4041G>T (p.Thr1347=) c.3693G>T (p.Thr1231=) c.3522G>T (p.Thr1174=) c.3408G>T (p.Thr1136=) c.2970G>T (p.Thr990=) n.4238G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.47000162C>A | CA352516837 | NBEAL2 | c.4063C>A (p.Pro1355Thr) c.3961C>A (p.Pro1321Thr) n.400C>A c.1960-34C>A c.535C>A (p.Pro179Thr) c.3982C>A (p.Pro1328Thr) c.4042C>A (p.Pro1348Thr) c.3694C>A (p.Pro1232Thr) c.3523C>A (p.Pro1175Thr) c.3409C>A (p.Pro1137Thr) c.2971C>A (p.Pro991Thr) n.4239C>A | |
3 | g.47000162C= | CA1362363048 | NBEAL2 | c.4063C= (p.Pro1355=) c.3961C= (p.Pro1321=) n.400C= c.1960-34C= c.535C= (p.Pro179=) c.3982C= (p.Pro1328=) c.4042C= (p.Pro1348=) c.3694C= (p.Pro1232=) c.3523C= (p.Pro1175=) c.3409C= (p.Pro1137=) c.2971C= (p.Pro991=) n.4239C= | |
3 | g.47000162C>G | CA352516838 | NBEAL2 | c.4063C>G (p.Pro1355Ala) c.3961C>G (p.Pro1321Ala) n.400C>G c.1960-34C>G c.535C>G (p.Pro179Ala) c.3982C>G (p.Pro1328Ala) c.4042C>G (p.Pro1348Ala) c.3694C>G (p.Pro1232Ala) c.3523C>G (p.Pro1175Ala) c.3409C>G (p.Pro1137Ala) c.2971C>G (p.Pro991Ala) n.4239C>G | |
3 | g.47000162C>T | CA73817775 | NBEAL2 | c.4063C>T (p.Pro1355Ser) c.3961C>T (p.Pro1321Ser) n.400C>T c.1960-34C>T c.535C>T (p.Pro179Ser) c.3982C>T (p.Pro1328Ser) c.4042C>T (p.Pro1348Ser) c.3694C>T (p.Pro1232Ser) c.3523C>T (p.Pro1175Ser) c.3409C>T (p.Pro1137Ser) c.2971C>T (p.Pro991Ser) n.4239C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000163C>A | CA352516839 | NBEAL2 | c.4064C>A (p.Pro1355His) c.3962C>A (p.Pro1321His) n.401C>A c.1960-33C>A c.536C>A (p.Pro179His) c.3983C>A (p.Pro1328His) c.4043C>A (p.Pro1348His) c.3695C>A (p.Pro1232His) c.3524C>A (p.Pro1175His) c.3410C>A (p.Pro1137His) c.2972C>A (p.Pro991His) n.4240C>A | |
3 | g.47000163C>G | CA352516841 | NBEAL2 | c.4064C>G (p.Pro1355Arg) c.3962C>G (p.Pro1321Arg) n.401C>G c.1960-33C>G c.536C>G (p.Pro179Arg) c.3983C>G (p.Pro1328Arg) c.4043C>G (p.Pro1348Arg) c.3695C>G (p.Pro1232Arg) c.3524C>G (p.Pro1175Arg) c.3410C>G (p.Pro1137Arg) c.2972C>G (p.Pro991Arg) n.4240C>G | |
3 | g.47000163C>T | CA352516840 | NBEAL2 | c.4064C>T (p.Pro1355Leu) c.3962C>T (p.Pro1321Leu) n.401C>T c.1960-33C>T c.536C>T (p.Pro179Leu) c.3983C>T (p.Pro1328Leu) c.4043C>T (p.Pro1348Leu) c.3695C>T (p.Pro1232Leu) c.3524C>T (p.Pro1175Leu) c.3410C>T (p.Pro1137Leu) c.2972C>T (p.Pro991Leu) n.4240C>T | |
3 | g.47000164C>A | CA433598399 | NBEAL2 | c.4065C>A (p.Pro1355=) c.3963C>A (p.Pro1321=) n.402C>A c.1960-32C>A c.537C>A (p.Pro179=) c.3984C>A (p.Pro1328=) c.4044C>A (p.Pro1348=) c.3696C>A (p.Pro1232=) c.3525C>A (p.Pro1175=) c.3411C>A (p.Pro1137=) c.2973C>A (p.Pro991=) n.4241C>A | gnomAD v4 |
3 | g.47000164C= | CA1362363049 | NBEAL2 | c.4065C= (p.Pro1355=) c.3963C= (p.Pro1321=) n.402C= c.1960-32C= c.537C= (p.Pro179=) c.3984C= (p.Pro1328=) c.4044C= (p.Pro1348=) c.3696C= (p.Pro1232=) c.3525C= (p.Pro1175=) c.3411C= (p.Pro1137=) c.2973C= (p.Pro991=) n.4241C= | |
3 | g.47000164C>G | CA433598400 | NBEAL2 | c.4065C>G (p.Pro1355=) c.3963C>G (p.Pro1321=) n.402C>G c.1960-32C>G c.537C>G (p.Pro179=) c.3984C>G (p.Pro1328=) c.4044C>G (p.Pro1348=) c.3696C>G (p.Pro1232=) c.3525C>G (p.Pro1175=) c.3411C>G (p.Pro1137=) c.2973C>G (p.Pro991=) n.4241C>G | |
3 | g.47000164C>T | CA433598401 | NBEAL2 | c.4065C>T (p.Pro1355=) c.3963C>T (p.Pro1321=) n.402C>T c.1960-32C>T c.537C>T (p.Pro179=) c.3984C>T (p.Pro1328=) c.4044C>T (p.Pro1348=) c.3696C>T (p.Pro1232=) c.3525C>T (p.Pro1175=) c.3411C>T (p.Pro1137=) c.2973C>T (p.Pro991=) n.4241C>T | dbSNP |
3 | g.47000165T>A | CA352516842 | NBEAL2 | c.4066T>A (p.Phe1356Ile) c.3964T>A (p.Phe1322Ile) n.403T>A c.1960-31T>A c.538T>A (p.Phe180Ile) c.3985T>A (p.Phe1329Ile) c.4045T>A (p.Phe1349Ile) c.3697T>A (p.Phe1233Ile) c.3526T>A (p.Phe1176Ile) c.3412T>A (p.Phe1138Ile) c.2974T>A (p.Phe992Ile) n.4242T>A | |
3 | g.47000165T>C | CA352516843 | NBEAL2 | c.4066T>C (p.Phe1356Leu) c.3964T>C (p.Phe1322Leu) n.403T>C c.1960-31T>C c.538T>C (p.Phe180Leu) c.3985T>C (p.Phe1329Leu) c.4045T>C (p.Phe1349Leu) c.3697T>C (p.Phe1233Leu) c.3526T>C (p.Phe1176Leu) c.3412T>C (p.Phe1138Leu) c.2974T>C (p.Phe992Leu) n.4242T>C | |
3 | g.47000165T>G | CA352516844 | NBEAL2 | c.4066T>G (p.Phe1356Val) c.3964T>G (p.Phe1322Val) n.403T>G c.1960-31T>G c.538T>G (p.Phe180Val) c.3985T>G (p.Phe1329Val) c.4045T>G (p.Phe1349Val) c.3697T>G (p.Phe1233Val) c.3526T>G (p.Phe1176Val) c.3412T>G (p.Phe1138Val) c.2974T>G (p.Phe992Val) n.4242T>G | |
3 | g.47000167del | CA2838463771 | NBEAL2 | c.4068del (p.Phe1356LeufsTer10) c.3966del (p.Phe1322LeufsTer10) n.405del c.1960-29del c.540del (p.Phe180LeufsTer10) c.3987del (p.Phe1329LeufsTer10) c.4047del (p.Phe1349LeufsTer10) c.3699del (p.Phe1233LeufsTer10) c.3528del (p.Phe1176LeufsTer10) c.3414del (p.Phe1138LeufsTer10) c.2976del (p.Phe992LeufsTer10) n.4244del | |
3 | g.47000166T>A | CA352516845 | NBEAL2 | c.4067T>A (p.Phe1356Tyr) c.3965T>A (p.Phe1322Tyr) n.404T>A c.1960-30T>A c.539T>A (p.Phe180Tyr) c.3986T>A (p.Phe1329Tyr) c.4046T>A (p.Phe1349Tyr) c.3698T>A (p.Phe1233Tyr) c.3527T>A (p.Phe1176Tyr) c.3413T>A (p.Phe1138Tyr) c.2975T>A (p.Phe992Tyr) n.4243T>A | |
3 | g.47000166T>C | CA352516846 | NBEAL2 | c.4067T>C (p.Phe1356Ser) c.3965T>C (p.Phe1322Ser) n.404T>C c.1960-30T>C c.539T>C (p.Phe180Ser) c.3986T>C (p.Phe1329Ser) c.4046T>C (p.Phe1349Ser) c.3698T>C (p.Phe1233Ser) c.3527T>C (p.Phe1176Ser) c.3413T>C (p.Phe1138Ser) c.2975T>C (p.Phe992Ser) n.4243T>C | gnomAD v4 |
3 | g.47000166T>G | CA352516847 | NBEAL2 | c.4067T>G (p.Phe1356Cys) c.3965T>G (p.Phe1322Cys) n.404T>G c.1960-30T>G c.539T>G (p.Phe180Cys) c.3986T>G (p.Phe1329Cys) c.4046T>G (p.Phe1349Cys) c.3698T>G (p.Phe1233Cys) c.3527T>G (p.Phe1176Cys) c.3413T>G (p.Phe1138Cys) c.2975T>G (p.Phe992Cys) n.4243T>G | |
3 | g.47000167T>A | CA352516848 | NBEAL2 | c.4068T>A (p.Phe1356Leu) c.3966T>A (p.Phe1322Leu) n.405T>A c.1960-29T>A c.540T>A (p.Phe180Leu) c.3987T>A (p.Phe1329Leu) c.4047T>A (p.Phe1349Leu) c.3699T>A (p.Phe1233Leu) c.3528T>A (p.Phe1176Leu) c.3414T>A (p.Phe1138Leu) c.2976T>A (p.Phe992Leu) n.4244T>A | |
3 | g.47000167T>C | CA433598403 | NBEAL2 | c.4068T>C (p.Phe1356=) c.3966T>C (p.Phe1322=) n.405T>C c.1960-29T>C c.540T>C (p.Phe180=) c.3987T>C (p.Phe1329=) c.4047T>C (p.Phe1349=) c.3699T>C (p.Phe1233=) c.3528T>C (p.Phe1176=) c.3414T>C (p.Phe1138=) c.2976T>C (p.Phe992=) n.4244T>C | dbSNP |
3 | g.47000167T>G | CA352516849 | NBEAL2 | c.4068T>G (p.Phe1356Leu) c.3966T>G (p.Phe1322Leu) n.405T>G c.1960-29T>G c.540T>G (p.Phe180Leu) c.3987T>G (p.Phe1329Leu) c.4047T>G (p.Phe1349Leu) c.3699T>G (p.Phe1233Leu) c.3528T>G (p.Phe1176Leu) c.3414T>G (p.Phe1138Leu) c.2976T>G (p.Phe992Leu) n.4244T>G | gnomAD v4 |
3 | g.47000167T= | CA1362363050 | NBEAL2 | c.4068T= (p.Phe1356=) c.3966T= (p.Phe1322=) n.405T= c.1960-29T= c.540T= (p.Phe180=) c.3987T= (p.Phe1329=) c.4047T= (p.Phe1349=) c.3699T= (p.Phe1233=) c.3528T= (p.Phe1176=) c.3414T= (p.Phe1138=) c.2976T= (p.Phe992=) n.4244T= | |
3 | g.47000168G>A | CA352516850 | NBEAL2 | c.4069G>A (p.Asp1357Asn) c.3967G>A (p.Asp1323Asn) n.406G>A c.1960-28G>A c.541G>A (p.Asp181Asn) c.3988G>A (p.Asp1330Asn) c.4048G>A (p.Asp1350Asn) c.3700G>A (p.Asp1234Asn) c.3529G>A (p.Asp1177Asn) c.3415G>A (p.Asp1139Asn) c.2977G>A (p.Asp993Asn) n.4245G>A | |
3 | g.47000168G>C | CA352516851 | NBEAL2 | c.4069G>C (p.Asp1357His) c.3967G>C (p.Asp1323His) n.406G>C c.1960-28G>C c.541G>C (p.Asp181His) c.3988G>C (p.Asp1330His) c.4048G>C (p.Asp1350His) c.3700G>C (p.Asp1234His) c.3529G>C (p.Asp1177His) c.3415G>C (p.Asp1139His) c.2977G>C (p.Asp993His) n.4245G>C | |
3 | g.47000168G>T | CA352516852 | NBEAL2 | c.4069G>T (p.Asp1357Tyr) c.3967G>T (p.Asp1323Tyr) n.406G>T c.1960-28G>T c.541G>T (p.Asp181Tyr) c.3988G>T (p.Asp1330Tyr) c.4048G>T (p.Asp1350Tyr) c.3700G>T (p.Asp1234Tyr) c.3529G>T (p.Asp1177Tyr) c.3415G>T (p.Asp1139Tyr) c.2977G>T (p.Asp993Tyr) n.4245G>T | |
3 | g.47000169A>C | CA352516853 | NBEAL2 | c.4070A>C (p.Asp1357Ala) c.3968A>C (p.Asp1323Ala) n.407A>C c.1960-27A>C c.542A>C (p.Asp181Ala) c.3989A>C (p.Asp1330Ala) c.4049A>C (p.Asp1350Ala) c.3701A>C (p.Asp1234Ala) c.3530A>C (p.Asp1177Ala) c.3416A>C (p.Asp1139Ala) c.2978A>C (p.Asp993Ala) n.4246A>C | |
3 | g.47000169A>G | CA352516854 | NBEAL2 | c.4070A>G (p.Asp1357Gly) c.3968A>G (p.Asp1323Gly) n.407A>G c.1960-27A>G c.542A>G (p.Asp181Gly) c.3989A>G (p.Asp1330Gly) c.4049A>G (p.Asp1350Gly) c.3701A>G (p.Asp1234Gly) c.3530A>G (p.Asp1177Gly) c.3416A>G (p.Asp1139Gly) c.2978A>G (p.Asp993Gly) n.4246A>G | |
3 | g.47000169A>T | CA352516855 | NBEAL2 | c.4070A>T (p.Asp1357Val) c.3968A>T (p.Asp1323Val) n.407A>T c.1960-27A>T c.542A>T (p.Asp181Val) c.3989A>T (p.Asp1330Val) c.4049A>T (p.Asp1350Val) c.3701A>T (p.Asp1234Val) c.3530A>T (p.Asp1177Val) c.3416A>T (p.Asp1139Val) c.2978A>T (p.Asp993Val) n.4246A>T | |
3 | g.47000170C>A | CA352516857 | NBEAL2 | c.4071C>A (p.Asp1357Glu) c.3969C>A (p.Asp1323Glu) n.408C>A c.1960-26C>A c.543C>A (p.Asp181Glu) c.3990C>A (p.Asp1330Glu) c.4050C>A (p.Asp1350Glu) c.3702C>A (p.Asp1234Glu) c.3531C>A (p.Asp1177Glu) c.3417C>A (p.Asp1139Glu) c.2979C>A (p.Asp993Glu) n.4247C>A | |
3 | g.47000170C= | CA1362363051 | NBEAL2 | c.4071C= (p.Asp1357=) c.3969C= (p.Asp1323=) n.408C= c.1960-26C= c.543C= (p.Asp181=) c.3990C= (p.Asp1330=) c.4050C= (p.Asp1350=) c.3702C= (p.Asp1234=) c.3531C= (p.Asp1177=) c.3417C= (p.Asp1139=) c.2979C= (p.Asp993=) n.4247C= | |
3 | g.47000170C>G | CA352516856 | NBEAL2 | c.4071C>G (p.Asp1357Glu) c.3969C>G (p.Asp1323Glu) n.408C>G c.1960-26C>G c.543C>G (p.Asp181Glu) c.3990C>G (p.Asp1330Glu) c.4050C>G (p.Asp1350Glu) c.3702C>G (p.Asp1234Glu) c.3531C>G (p.Asp1177Glu) c.3417C>G (p.Asp1139Glu) c.2979C>G (p.Asp993Glu) n.4247C>G | |
3 | g.47000170C>T | CA433598404 | NBEAL2 | c.4071C>T (p.Asp1357=) c.3969C>T (p.Asp1323=) n.408C>T c.1960-26C>T c.543C>T (p.Asp181=) c.3990C>T (p.Asp1330=) c.4050C>T (p.Asp1350=) c.3702C>T (p.Asp1234=) c.3531C>T (p.Asp1177=) c.3417C>T (p.Asp1139=) c.2979C>T (p.Asp993=) n.4247C>T | dbSNP |
3 | g.47000171C>A | CA352516858 | NBEAL2 | c.4072C>A (p.Leu1358Met) c.3970C>A (p.Leu1324Met) n.409C>A c.1960-25C>A c.544C>A (p.Leu182Met) c.3991C>A (p.Leu1331Met) c.4051C>A (p.Leu1351Met) c.3703C>A (p.Leu1235Met) c.3532C>A (p.Leu1178Met) c.3418C>A (p.Leu1140Met) c.2980C>A (p.Leu994Met) n.4248C>A | |
3 | g.47000171C= | CA1362363052 | NBEAL2 | c.4072C= (p.Leu1358=) c.3970C= (p.Leu1324=) n.409C= c.1960-25C= c.544C= (p.Leu182=) c.3991C= (p.Leu1331=) c.4051C= (p.Leu1351=) c.3703C= (p.Leu1235=) c.3532C= (p.Leu1178=) c.3418C= (p.Leu1140=) c.2980C= (p.Leu994=) n.4248C= | |
3 | g.47000171C>G | CA352516859 | NBEAL2 | c.4072C>G (p.Leu1358Val) c.3970C>G (p.Leu1324Val) n.409C>G c.1960-25C>G c.544C>G (p.Leu182Val) c.3991C>G (p.Leu1331Val) c.4051C>G (p.Leu1351Val) c.3703C>G (p.Leu1235Val) c.3532C>G (p.Leu1178Val) c.3418C>G (p.Leu1140Val) c.2980C>G (p.Leu994Val) n.4248C>G | |
3 | g.47000171C>T | CA433598405 | NBEAL2 | c.4072C>T (p.Leu1358=) c.3970C>T (p.Leu1324=) n.409C>T c.1960-25C>T c.544C>T (p.Leu182=) c.3991C>T (p.Leu1331=) c.4051C>T (p.Leu1351=) c.3703C>T (p.Leu1235=) c.3532C>T (p.Leu1178=) c.3418C>T (p.Leu1140=) c.2980C>T (p.Leu994=) n.4248C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000172T>A | CA352516860 | NBEAL2 | c.4073T>A (p.Leu1358Gln) c.3971T>A (p.Leu1324Gln) n.410T>A c.1960-24T>A c.545T>A (p.Leu182Gln) c.3992T>A (p.Leu1331Gln) c.4052T>A (p.Leu1351Gln) c.3704T>A (p.Leu1235Gln) c.3533T>A (p.Leu1178Gln) c.3419T>A (p.Leu1140Gln) c.2981T>A (p.Leu994Gln) n.4249T>A | |
3 | g.47000172T>C | CA352516861 | NBEAL2 | c.4073T>C (p.Leu1358Pro) c.3971T>C (p.Leu1324Pro) n.410T>C c.1960-24T>C c.545T>C (p.Leu182Pro) c.3992T>C (p.Leu1331Pro) c.4052T>C (p.Leu1351Pro) c.3704T>C (p.Leu1235Pro) c.3533T>C (p.Leu1178Pro) c.3419T>C (p.Leu1140Pro) c.2981T>C (p.Leu994Pro) n.4249T>C | ClinVar gnomAD v4 |
3 | g.47000172T>G | CA352516862 | NBEAL2 | c.4073T>G (p.Leu1358Arg) c.3971T>G (p.Leu1324Arg) n.410T>G c.1960-24T>G c.545T>G (p.Leu182Arg) c.3992T>G (p.Leu1331Arg) c.4052T>G (p.Leu1351Arg) c.3704T>G (p.Leu1235Arg) c.3533T>G (p.Leu1178Arg) c.3419T>G (p.Leu1140Arg) c.2981T>G (p.Leu994Arg) n.4249T>G | |
3 | g.47000173G>A | CA433598407 | NBEAL2 | c.4074G>A (p.Leu1358=) c.3972G>A (p.Leu1324=) n.411G>A c.1960-23G>A c.546G>A (p.Leu182=) c.3993G>A (p.Leu1331=) c.4053G>A (p.Leu1351=) c.3705G>A (p.Leu1235=) c.3534G>A (p.Leu1178=) c.3420G>A (p.Leu1140=) c.2982G>A (p.Leu994=) n.4250G>A | |
3 | g.47000173G>C | CA433598409 | NBEAL2 | c.4074G>C (p.Leu1358=) c.3972G>C (p.Leu1324=) n.411G>C c.1960-23G>C c.546G>C (p.Leu182=) c.3993G>C (p.Leu1331=) c.4053G>C (p.Leu1351=) c.3705G>C (p.Leu1235=) c.3534G>C (p.Leu1178=) c.3420G>C (p.Leu1140=) c.2982G>C (p.Leu994=) n.4250G>C | |
3 | g.47000173G>T | CA433598410 | NBEAL2 | c.4074G>T (p.Leu1358=) c.3972G>T (p.Leu1324=) n.411G>T c.1960-23G>T c.546G>T (p.Leu182=) c.3993G>T (p.Leu1331=) c.4053G>T (p.Leu1351=) c.3705G>T (p.Leu1235=) c.3534G>T (p.Leu1178=) c.3420G>T (p.Leu1140=) c.2982G>T (p.Leu994=) n.4250G>T | |
3 | g.47000174G>A | CA352516863 | NBEAL2 | c.4075G>A (p.Gly1359Ser) c.3973G>A (p.Gly1325Ser) n.412G>A c.1960-22G>A c.547G>A (p.Gly183Ser) c.3994G>A (p.Gly1332Ser) c.4054G>A (p.Gly1352Ser) c.3706G>A (p.Gly1236Ser) c.3535G>A (p.Gly1179Ser) c.3421G>A (p.Gly1141Ser) c.2983G>A (p.Gly995Ser) n.4251G>A | gnomAD v4 |
3 | g.47000174G>C | CA352516864 | NBEAL2 | c.4075G>C (p.Gly1359Arg) c.3973G>C (p.Gly1325Arg) n.412G>C c.1960-22G>C c.547G>C (p.Gly183Arg) c.3994G>C (p.Gly1332Arg) c.4054G>C (p.Gly1352Arg) c.3706G>C (p.Gly1236Arg) c.3535G>C (p.Gly1179Arg) c.3421G>C (p.Gly1141Arg) c.2983G>C (p.Gly995Arg) n.4251G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000174G= | CA1362363053 | NBEAL2 | c.4075G= (p.Gly1359=) c.3973G= (p.Gly1325=) n.412G= c.1960-22G= c.547G= (p.Gly183=) c.3994G= (p.Gly1332=) c.4054G= (p.Gly1352=) c.3706G= (p.Gly1236=) c.3535G= (p.Gly1179=) c.3421G= (p.Gly1141=) c.2983G= (p.Gly995=) n.4251G= | |
3 | g.47000174G>T | CA352516865 | NBEAL2 | c.4075G>T (p.Gly1359Cys) c.3973G>T (p.Gly1325Cys) n.412G>T c.1960-22G>T c.547G>T (p.Gly183Cys) c.3994G>T (p.Gly1332Cys) c.4054G>T (p.Gly1352Cys) c.3706G>T (p.Gly1236Cys) c.3535G>T (p.Gly1179Cys) c.3421G>T (p.Gly1141Cys) c.2983G>T (p.Gly995Cys) n.4251G>T | |
3 | g.47000175G>A | CA352516866 | NBEAL2 | c.4076G>A (p.Gly1359Asp) c.3974G>A (p.Gly1325Asp) n.413G>A c.1960-21G>A c.548G>A (p.Gly183Asp) c.3995G>A (p.Gly1332Asp) c.4055G>A (p.Gly1352Asp) c.3707G>A (p.Gly1236Asp) c.3536G>A (p.Gly1179Asp) c.3422G>A (p.Gly1141Asp) c.2984G>A (p.Gly995Asp) n.4252G>A | gnomAD v4 |
3 | g.47000175G>C | CA352516867 | NBEAL2 | c.4076G>C (p.Gly1359Ala) c.3974G>C (p.Gly1325Ala) n.413G>C c.1960-21G>C c.548G>C (p.Gly183Ala) c.3995G>C (p.Gly1332Ala) c.4055G>C (p.Gly1352Ala) c.3707G>C (p.Gly1236Ala) c.3536G>C (p.Gly1179Ala) c.3422G>C (p.Gly1141Ala) c.2984G>C (p.Gly995Ala) n.4252G>C | |
3 | g.47000175G>T | CA352516868 | NBEAL2 | c.4076G>T (p.Gly1359Val) c.3974G>T (p.Gly1325Val) n.413G>T c.1960-21G>T c.548G>T (p.Gly183Val) c.3995G>T (p.Gly1332Val) c.4055G>T (p.Gly1352Val) c.3707G>T (p.Gly1236Val) c.3536G>T (p.Gly1179Val) c.3422G>T (p.Gly1141Val) c.2984G>T (p.Gly995Val) n.4252G>T | gnomAD v4 |
3 | g.47000176C>A | CA433598412 | NBEAL2 | c.4077C>A (p.Gly1359=) c.3975C>A (p.Gly1325=) n.414C>A c.1960-20C>A c.549C>A (p.Gly183=) c.3996C>A (p.Gly1332=) c.4056C>A (p.Gly1352=) c.3708C>A (p.Gly1236=) c.3537C>A (p.Gly1179=) c.3423C>A (p.Gly1141=) c.2985C>A (p.Gly995=) n.4253C>A | |
3 | g.47000176C>G | CA433598413 | NBEAL2 | c.4077C>G (p.Gly1359=) c.3975C>G (p.Gly1325=) n.414C>G c.1960-20C>G c.549C>G (p.Gly183=) c.3996C>G (p.Gly1332=) c.4056C>G (p.Gly1352=) c.3708C>G (p.Gly1236=) c.3537C>G (p.Gly1179=) c.3423C>G (p.Gly1141=) c.2985C>G (p.Gly995=) n.4253C>G | |
3 | g.47000176C>T | CA433598414 | NBEAL2 | c.4077C>T (p.Gly1359=) c.3975C>T (p.Gly1325=) n.414C>T c.1960-20C>T c.549C>T (p.Gly183=) c.3996C>T (p.Gly1332=) c.4056C>T (p.Gly1352=) c.3708C>T (p.Gly1236=) c.3537C>T (p.Gly1179=) c.3423C>T (p.Gly1141=) c.2985C>T (p.Gly995=) n.4253C>T | gnomAD v4 |
3 | g.47000177C>A | CA352516869 | NBEAL2 | c.4078C>A (p.Leu1360Met) c.3976C>A (p.Leu1326Met) n.415C>A c.1960-19C>A c.550C>A (p.Leu184Met) c.3997C>A (p.Leu1333Met) c.4057C>A (p.Leu1353Met) c.3709C>A (p.Leu1237Met) c.3538C>A (p.Leu1180Met) c.3424C>A (p.Leu1142Met) c.2986C>A (p.Leu996Met) n.4254C>A | |
3 | g.47000177C>G | CA352516870 | NBEAL2 | c.4078C>G (p.Leu1360Val) c.3976C>G (p.Leu1326Val) n.415C>G c.1960-19C>G c.550C>G (p.Leu184Val) c.3997C>G (p.Leu1333Val) c.4057C>G (p.Leu1353Val) c.3709C>G (p.Leu1237Val) c.3538C>G (p.Leu1180Val) c.3424C>G (p.Leu1142Val) c.2986C>G (p.Leu996Val) n.4254C>G | |
3 | g.47000177C>T | CA433598415 | NBEAL2 | c.4078C>T (p.Leu1360=) c.3976C>T (p.Leu1326=) n.415C>T c.1960-19C>T c.550C>T (p.Leu184=) c.3997C>T (p.Leu1333=) c.4057C>T (p.Leu1353=) c.3709C>T (p.Leu1237=) c.3538C>T (p.Leu1180=) c.3424C>T (p.Leu1142=) c.2986C>T (p.Leu996=) n.4254C>T | |
3 | g.47000178T>A | CA352516871 | NBEAL2 | c.4079T>A (p.Leu1360Gln) c.3977T>A (p.Leu1326Gln) n.416T>A c.1960-18T>A c.551T>A (p.Leu184Gln) c.3998T>A (p.Leu1333Gln) c.4058T>A (p.Leu1353Gln) c.3710T>A (p.Leu1237Gln) c.3539T>A (p.Leu1180Gln) c.3425T>A (p.Leu1142Gln) c.2987T>A (p.Leu996Gln) n.4255T>A | |
3 | g.47000178T>C | CA352516873 | NBEAL2 | c.4079T>C (p.Leu1360Pro) c.3977T>C (p.Leu1326Pro) n.416T>C c.1960-18T>C c.551T>C (p.Leu184Pro) c.3998T>C (p.Leu1333Pro) c.4058T>C (p.Leu1353Pro) c.3710T>C (p.Leu1237Pro) c.3539T>C (p.Leu1180Pro) c.3425T>C (p.Leu1142Pro) c.2987T>C (p.Leu996Pro) n.4255T>C | |
3 | g.47000178T>G | CA352516872 | NBEAL2 | c.4079T>G (p.Leu1360Arg) c.3977T>G (p.Leu1326Arg) n.416T>G c.1960-18T>G c.551T>G (p.Leu184Arg) c.3998T>G (p.Leu1333Arg) c.4058T>G (p.Leu1353Arg) c.3710T>G (p.Leu1237Arg) c.3539T>G (p.Leu1180Arg) c.3425T>G (p.Leu1142Arg) c.2987T>G (p.Leu996Arg) n.4255T>G | |
3 | g.47000179G>A | CA433598418 | NBEAL2 | c.4080G>A (p.Leu1360=) c.3978G>A (p.Leu1326=) n.417G>A c.1960-17G>A c.552G>A (p.Leu184=) c.3999G>A (p.Leu1333=) c.4059G>A (p.Leu1353=) c.3711G>A (p.Leu1237=) c.3540G>A (p.Leu1180=) c.3426G>A (p.Leu1142=) c.2988G>A (p.Leu996=) n.4256G>A | |
3 | g.47000179G>C | CA433598420 | NBEAL2 | c.4080G>C (p.Leu1360=) c.3978G>C (p.Leu1326=) n.417G>C c.1960-17G>C c.552G>C (p.Leu184=) c.3999G>C (p.Leu1333=) c.4059G>C (p.Leu1353=) c.3711G>C (p.Leu1237=) c.3540G>C (p.Leu1180=) c.3426G>C (p.Leu1142=) c.2988G>C (p.Leu996=) n.4256G>C | |
3 | g.47000179G>T | CA433598421 | NBEAL2 | c.4080G>T (p.Leu1360=) c.3978G>T (p.Leu1326=) n.417G>T c.1960-17G>T c.552G>T (p.Leu184=) c.3999G>T (p.Leu1333=) c.4059G>T (p.Leu1353=) c.3711G>T (p.Leu1237=) c.3540G>T (p.Leu1180=) c.3426G>T (p.Leu1142=) c.2988G>T (p.Leu996=) n.4256G>T | |
3 | g.47000180dup | CA2841994378 | NBEAL2 | c.4081dup (p.Glu1361GlyfsTer4) c.3979dup (p.Glu1327GlyfsTer4) n.418dup c.1960-16dup c.553dup (p.Glu185GlyfsTer4) c.4000dup (p.Glu1334GlyfsTer4) c.4060dup (p.Glu1354GlyfsTer4) c.3712dup (p.Glu1238GlyfsTer4) c.3541dup (p.Glu1181GlyfsTer4) c.3427dup (p.Glu1143GlyfsTer4) c.2989dup (p.Glu997GlyfsTer4) n.4257dup | |
3 | g.47000180G>A | CA352516874 | NBEAL2 | c.4081G>A (p.Glu1361Lys) c.3979G>A (p.Glu1327Lys) n.418G>A c.1960-16G>A c.553G>A (p.Glu185Lys) c.4000G>A (p.Glu1334Lys) c.4060G>A (p.Glu1354Lys) c.3712G>A (p.Glu1238Lys) c.3541G>A (p.Glu1181Lys) c.3427G>A (p.Glu1143Lys) c.2989G>A (p.Glu997Lys) n.4257G>A | |
3 | g.47000180G>C | CA352516875 | NBEAL2 | c.4081G>C (p.Glu1361Gln) c.3979G>C (p.Glu1327Gln) n.418G>C c.1960-16G>C c.553G>C (p.Glu185Gln) c.4000G>C (p.Glu1334Gln) c.4060G>C (p.Glu1354Gln) c.3712G>C (p.Glu1238Gln) c.3541G>C (p.Glu1181Gln) c.3427G>C (p.Glu1143Gln) c.2989G>C (p.Glu997Gln) n.4257G>C | |
3 | g.47000180G= | CA1362363054 | NBEAL2 | c.4081G= (p.Glu1361=) c.3979G= (p.Glu1327=) n.418G= c.1960-16G= c.553G= (p.Glu185=) c.4000G= (p.Glu1334=) c.4060G= (p.Glu1354=) c.3712G= (p.Glu1238=) c.3541G= (p.Glu1181=) c.3427G= (p.Glu1143=) c.2989G= (p.Glu997=) n.4257G= | |
3 | g.47000180G>T | CA352516876 | NBEAL2 | c.4081G>T (p.Glu1361Ter) c.3979G>T (p.Glu1327Ter) n.418G>T c.1960-16G>T c.553G>T (p.Glu185Ter) c.4000G>T (p.Glu1334Ter) c.4060G>T (p.Glu1354Ter) c.3712G>T (p.Glu1238Ter) c.3541G>T (p.Glu1181Ter) c.3427G>T (p.Glu1143Ter) c.2989G>T (p.Glu997Ter) n.4257G>T | ClinVar dbSNP gnomAD v4 |
3 | g.47000181A= | CA1362363055 | NBEAL2 | c.4082A= (p.Glu1361=) c.3980A= (p.Glu1327=) n.419A= c.1960-15A= c.554A= (p.Glu185=) c.4001A= (p.Glu1334=) c.4061A= (p.Glu1354=) c.3713A= (p.Glu1238=) c.3542A= (p.Glu1181=) c.3428A= (p.Glu1143=) c.2990A= (p.Glu997=) n.4258A= | |
3 | g.47000181A>C | CA352516877 | NBEAL2 | c.4082A>C (p.Glu1361Ala) c.3980A>C (p.Glu1327Ala) n.419A>C c.1960-15A>C c.554A>C (p.Glu185Ala) c.4001A>C (p.Glu1334Ala) c.4061A>C (p.Glu1354Ala) c.3713A>C (p.Glu1238Ala) c.3542A>C (p.Glu1181Ala) c.3428A>C (p.Glu1143Ala) c.2990A>C (p.Glu997Ala) n.4258A>C | |
3 | g.47000181A>G | CA352516878 | NBEAL2 | c.4082A>G (p.Glu1361Gly) c.3980A>G (p.Glu1327Gly) n.419A>G c.1960-15A>G c.554A>G (p.Glu185Gly) c.4001A>G (p.Glu1334Gly) c.4061A>G (p.Glu1354Gly) c.3713A>G (p.Glu1238Gly) c.3542A>G (p.Glu1181Gly) c.3428A>G (p.Glu1143Gly) c.2990A>G (p.Glu997Gly) n.4258A>G | |
3 | g.47000181A>T | CA352516879 | NBEAL2 | c.4082A>T (p.Glu1361Val) c.3980A>T (p.Glu1327Val) n.419A>T c.1960-15A>T c.554A>T (p.Glu185Val) c.4001A>T (p.Glu1334Val) c.4061A>T (p.Glu1354Val) c.3713A>T (p.Glu1238Val) c.3542A>T (p.Glu1181Val) c.3428A>T (p.Glu1143Val) c.2990A>T (p.Glu997Val) n.4258A>T | dbSNP |
3 | g.47000182A>C | CA352516880 | NBEAL2 | c.4083A>C (p.Glu1361Asp) c.3981A>C (p.Glu1327Asp) n.420A>C c.1960-14A>C c.555A>C (p.Glu185Asp) c.4002A>C (p.Glu1334Asp) c.4062A>C (p.Glu1354Asp) c.3714A>C (p.Glu1238Asp) c.3543A>C (p.Glu1181Asp) c.3429A>C (p.Glu1143Asp) c.2991A>C (p.Glu997Asp) n.4259A>C | |
3 | g.47000182A>G | CA433598422 | NBEAL2 | c.4083A>G (p.Glu1361=) c.3981A>G (p.Glu1327=) n.420A>G c.1960-14A>G c.555A>G (p.Glu185=) c.4002A>G (p.Glu1334=) c.4062A>G (p.Glu1354=) c.3714A>G (p.Glu1238=) c.3543A>G (p.Glu1181=) c.3429A>G (p.Glu1143=) c.2991A>G (p.Glu997=) n.4259A>G | |
3 | g.47000182A>T | CA352516881 | NBEAL2 | c.4083A>T (p.Glu1361Asp) c.3981A>T (p.Glu1327Asp) n.420A>T c.1960-14A>T c.555A>T (p.Glu185Asp) c.4002A>T (p.Glu1334Asp) c.4062A>T (p.Glu1354Asp) c.3714A>T (p.Glu1238Asp) c.3543A>T (p.Glu1181Asp) c.3429A>T (p.Glu1143Asp) c.2991A>T (p.Glu997Asp) n.4259A>T | gnomAD v4 |
3 | g.47000182_47000183delinsAC | CA1362363056 | NBEAL2 | c.4083_4084delinsAC (p.Glu1361=) c.3981_3982delinsAC (p.Glu1327=) n.420_421delinsAC c.1960-14_1960-13delinsAC c.555_556delinsAC (p.Glu185=) c.4002_4003delinsAC (p.Glu1334=) c.4062_4063delinsAC (p.Glu1354=) c.3714_3715delinsAC (p.Glu1238=) c.3543_3544delinsAC (p.Glu1181=) c.3429_3430delinsAC (p.Glu1143=) c.2991_2992delinsAC (p.Glu997=) n.4259_4260delinsAC | |
3 | g.47000183del | CA543042211 | NBEAL2 | c.4084del (p.Arg1362GlyfsTer4) c.3982del (p.Arg1328GlyfsTer4) n.421del c.1960-13del c.556del (p.Arg186GlyfsTer4) c.4003del (p.Arg1335GlyfsTer4) c.4063del (p.Arg1355GlyfsTer4) c.3715del (p.Arg1239GlyfsTer4) c.3544del (p.Arg1182GlyfsTer4) c.3430del (p.Arg1144GlyfsTer4) c.2992del (p.Arg998GlyfsTer4) n.4260del | dbSNP gnomAD v2 |
3 | g.47000183C>A | CA433598425 | NBEAL2 | c.4084C>A (p.Arg1362=) c.3982C>A (p.Arg1328=) n.421C>A c.1960-13C>A c.556C>A (p.Arg186=) c.4003C>A (p.Arg1335=) c.4063C>A (p.Arg1355=) c.3715C>A (p.Arg1239=) c.3544C>A (p.Arg1182=) c.3430C>A (p.Arg1144=) c.2992C>A (p.Arg998=) n.4260C>A | |
3 | g.47000183C= | CA1362363057 | NBEAL2 | c.4084C= (p.Arg1362=) c.3982C= (p.Arg1328=) n.421C= c.1960-13C= c.556C= (p.Arg186=) c.4003C= (p.Arg1335=) c.4063C= (p.Arg1355=) c.3715C= (p.Arg1239=) c.3544C= (p.Arg1182=) c.3430C= (p.Arg1144=) c.2992C= (p.Arg998=) n.4260C= | |
3 | g.47000183C>G | CA352516882 | NBEAL2 | c.4084C>G (p.Arg1362Gly) c.3982C>G (p.Arg1328Gly) n.421C>G c.1960-13C>G c.556C>G (p.Arg186Gly) c.4003C>G (p.Arg1335Gly) c.4063C>G (p.Arg1355Gly) c.3715C>G (p.Arg1239Gly) c.3544C>G (p.Arg1182Gly) c.3430C>G (p.Arg1144Gly) c.2992C>G (p.Arg998Gly) n.4260C>G | |
3 | g.47000183C>T | CA2361139 | NBEAL2 | c.4084C>T (p.Arg1362Trp) c.3982C>T (p.Arg1328Trp) n.421C>T c.1960-13C>T c.556C>T (p.Arg186Trp) c.4003C>T (p.Arg1335Trp) c.4063C>T (p.Arg1355Trp) c.3715C>T (p.Arg1239Trp) c.3544C>T (p.Arg1182Trp) c.3430C>T (p.Arg1144Trp) c.2992C>T (p.Arg998Trp) n.4260C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000184G>A | CA2361140 | NBEAL2 | c.4085G>A (p.Arg1362Gln) c.3983G>A (p.Arg1328Gln) n.422G>A c.1960-12G>A c.557G>A (p.Arg186Gln) c.4004G>A (p.Arg1335Gln) c.4064G>A (p.Arg1355Gln) c.3716G>A (p.Arg1239Gln) c.3545G>A (p.Arg1182Gln) c.3431G>A (p.Arg1144Gln) c.2993G>A (p.Arg998Gln) n.4261G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.47000184G>C | CA352516883 | NBEAL2 | c.4085G>C (p.Arg1362Pro) c.3983G>C (p.Arg1328Pro) n.422G>C c.1960-12G>C c.557G>C (p.Arg186Pro) c.4004G>C (p.Arg1335Pro) c.4064G>C (p.Arg1355Pro) c.3716G>C (p.Arg1239Pro) c.3545G>C (p.Arg1182Pro) c.3431G>C (p.Arg1144Pro) c.2993G>C (p.Arg998Pro) n.4261G>C | |
3 | g.47000184G= | CA1362363058 | NBEAL2 | c.4085G= (p.Arg1362=) c.3983G= (p.Arg1328=) n.422G= c.1960-12G= c.557G= (p.Arg186=) c.4004G= (p.Arg1335=) c.4064G= (p.Arg1355=) c.3716G= (p.Arg1239=) c.3545G= (p.Arg1182=) c.3431G= (p.Arg1144=) c.2993G= (p.Arg998=) n.4261G= | |
3 | g.47000184G>T | CA352516884 | NBEAL2 | c.4085G>T (p.Arg1362Leu) c.3983G>T (p.Arg1328Leu) n.422G>T c.1960-12G>T c.557G>T (p.Arg186Leu) c.4004G>T (p.Arg1335Leu) c.4064G>T (p.Arg1355Leu) c.3716G>T (p.Arg1239Leu) c.3545G>T (p.Arg1182Leu) c.3431G>T (p.Arg1144Leu) c.2993G>T (p.Arg998Leu) n.4261G>T | gnomAD v4 |
3 | g.47000184_47000188del | CA2665493244 | NBEAL2 | c.4085_4089del (p.Arg1362GlnfsTer?) c.3983_3987del (p.Arg1328GlnfsTer?) n.422_426del c.1960-12_1960-8del c.557_561del (p.Arg186GlnfsTer?) c.4004_4008del (p.Arg1335GlnfsTer?) c.4064_4068del (p.Arg1355GlnfsTer?) c.3716_3720del (p.Arg1239GlnfsTer?) c.3545_3549del (p.Arg1182GlnfsTer?) c.3431_3435del (p.Arg1144GlnfsTer?) c.2993_2997del (p.Arg998GlnfsTer?) n.4261_4265del | gnomAD v4 |
3 | g.47000185G>A | CA2361141 | NBEAL2 | c.4086G>A (p.Arg1362=) c.3984G>A (p.Arg1328=) n.423G>A c.1960-11G>A c.558G>A (p.Arg186=) c.4005G>A (p.Arg1335=) c.4065G>A (p.Arg1355=) c.3717G>A (p.Arg1239=) c.3546G>A (p.Arg1182=) c.3432G>A (p.Arg1144=) c.2994G>A (p.Arg998=) n.4262G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000185G>C | CA433598427 | NBEAL2 | c.4086G>C (p.Arg1362=) c.3984G>C (p.Arg1328=) n.423G>C c.1960-11G>C c.558G>C (p.Arg186=) c.4005G>C (p.Arg1335=) c.4065G>C (p.Arg1355=) c.3717G>C (p.Arg1239=) c.3546G>C (p.Arg1182=) c.3432G>C (p.Arg1144=) c.2994G>C (p.Arg998=) n.4262G>C | |
3 | g.47000185G= | CA1362363059 | NBEAL2 | c.4086G= (p.Arg1362=) c.3984G= (p.Arg1328=) n.423G= c.1960-11G= c.558G= (p.Arg186=) c.4005G= (p.Arg1335=) c.4065G= (p.Arg1355=) c.3717G= (p.Arg1239=) c.3546G= (p.Arg1182=) c.3432G= (p.Arg1144=) c.2994G= (p.Arg998=) n.4262G= | |
3 | g.47000185G>T | CA433598428 | NBEAL2 | c.4086G>T (p.Arg1362=) c.3984G>T (p.Arg1328=) n.423G>T c.1960-11G>T c.558G>T (p.Arg186=) c.4005G>T (p.Arg1335=) c.4065G>T (p.Arg1355=) c.3717G>T (p.Arg1239=) c.3546G>T (p.Arg1182=) c.3432G>T (p.Arg1144=) c.2994G>T (p.Arg998=) n.4262G>T | |
3 | g.47000186T>A | CA352516885 | NBEAL2 | c.4087T>A (p.Ser1363Thr) c.3985T>A (p.Ser1329Thr) n.424T>A c.1960-10T>A c.559T>A (p.Ser187Thr) c.4006T>A (p.Ser1336Thr) c.4066T>A (p.Ser1356Thr) c.3718T>A (p.Ser1240Thr) c.3547T>A (p.Ser1183Thr) c.3433T>A (p.Ser1145Thr) c.2995T>A (p.Ser999Thr) n.4263T>A | |
3 | g.47000186T>C | CA352516886 | NBEAL2 | c.4087T>C (p.Ser1363Pro) c.3985T>C (p.Ser1329Pro) n.424T>C c.1960-10T>C c.559T>C (p.Ser187Pro) c.4006T>C (p.Ser1336Pro) c.4066T>C (p.Ser1356Pro) c.3718T>C (p.Ser1240Pro) c.3547T>C (p.Ser1183Pro) c.3433T>C (p.Ser1145Pro) c.2995T>C (p.Ser999Pro) n.4263T>C | |
3 | g.47000186T>G | CA352516887 | NBEAL2 | c.4087T>G (p.Ser1363Ala) c.3985T>G (p.Ser1329Ala) n.424T>G c.1960-10T>G c.559T>G (p.Ser187Ala) c.4006T>G (p.Ser1336Ala) c.4066T>G (p.Ser1356Ala) c.3718T>G (p.Ser1240Ala) c.3547T>G (p.Ser1183Ala) c.3433T>G (p.Ser1145Ala) c.2995T>G (p.Ser999Ala) n.4263T>G | |
3 | g.47000187C>A | CA352516888 | NBEAL2 | c.4088C>A (p.Ser1363Tyr) c.3986C>A (p.Ser1329Tyr) n.425C>A c.1960-9C>A c.560C>A (p.Ser187Tyr) c.4007C>A (p.Ser1336Tyr) c.4067C>A (p.Ser1356Tyr) c.3719C>A (p.Ser1240Tyr) c.3548C>A (p.Ser1183Tyr) c.3434C>A (p.Ser1145Tyr) c.2996C>A (p.Ser999Tyr) n.4264C>A | |
3 | g.47000187C= | CA1362363060 | NBEAL2 | c.4088C= (p.Ser1363=) c.3986C= (p.Ser1329=) n.425C= c.1960-9C= c.560C= (p.Ser187=) c.4007C= (p.Ser1336=) c.4067C= (p.Ser1356=) c.3719C= (p.Ser1240=) c.3548C= (p.Ser1183=) c.3434C= (p.Ser1145=) c.2996C= (p.Ser999=) n.4264C= | |
3 | g.47000187C>G | CA352516889 | NBEAL2 | c.4088C>G (p.Ser1363Cys) c.3986C>G (p.Ser1329Cys) n.425C>G c.1960-9C>G c.560C>G (p.Ser187Cys) c.4007C>G (p.Ser1336Cys) c.4067C>G (p.Ser1356Cys) c.3719C>G (p.Ser1240Cys) c.3548C>G (p.Ser1183Cys) c.3434C>G (p.Ser1145Cys) c.2996C>G (p.Ser999Cys) n.4264C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000187C>T | CA352516890 | NBEAL2 | c.4088C>T (p.Ser1363Phe) c.3986C>T (p.Ser1329Phe) n.425C>T c.1960-9C>T c.560C>T (p.Ser187Phe) c.4007C>T (p.Ser1336Phe) c.4067C>T (p.Ser1356Phe) c.3719C>T (p.Ser1240Phe) c.3548C>T (p.Ser1183Phe) c.3434C>T (p.Ser1145Phe) c.2996C>T (p.Ser999Phe) n.4264C>T | |
3 | g.47000188T>A | CA433598434 | NBEAL2 | c.4089T>A (p.Ser1363=) c.3987T>A (p.Ser1329=) n.426T>A c.1960-8T>A c.561T>A (p.Ser187=) c.4008T>A (p.Ser1336=) c.4068T>A (p.Ser1356=) c.3720T>A (p.Ser1240=) c.3549T>A (p.Ser1183=) c.3435T>A (p.Ser1145=) c.2997T>A (p.Ser999=) n.4265T>A | |
3 | g.47000188T>C | CA433598431 | NBEAL2 | c.4089T>C (p.Ser1363=) c.3987T>C (p.Ser1329=) n.426T>C c.1960-8T>C c.561T>C (p.Ser187=) c.4008T>C (p.Ser1336=) c.4068T>C (p.Ser1356=) c.3720T>C (p.Ser1240=) c.3549T>C (p.Ser1183=) c.3435T>C (p.Ser1145=) c.2997T>C (p.Ser999=) n.4265T>C | |
3 | g.47000188T>G | CA433598432 | NBEAL2 | c.4089T>G (p.Ser1363=) c.3987T>G (p.Ser1329=) n.426T>G c.1960-8T>G c.561T>G (p.Ser187=) c.4008T>G (p.Ser1336=) c.4068T>G (p.Ser1356=) c.3720T>G (p.Ser1240=) c.3549T>G (p.Ser1183=) c.3435T>G (p.Ser1145=) c.2997T>G (p.Ser999=) n.4265T>G | |
3 | g.47000189A>C | CA352516891 | NBEAL2 | c.4090A>C (p.Ser1364Arg) c.3988A>C (p.Ser1330Arg) n.427A>C c.1960-7A>C c.562A>C (p.Ser188Arg) c.4009A>C (p.Ser1337Arg) c.4069A>C (p.Ser1357Arg) c.3721A>C (p.Ser1241Arg) c.3550A>C (p.Ser1184Arg) c.3436A>C (p.Ser1146Arg) c.2998A>C (p.Ser1000Arg) n.4266A>C | |
3 | g.47000189A>G | CA352516892 | NBEAL2 | c.4090A>G (p.Ser1364Gly) c.3988A>G (p.Ser1330Gly) n.427A>G c.1960-7A>G c.562A>G (p.Ser188Gly) c.4009A>G (p.Ser1337Gly) c.4069A>G (p.Ser1357Gly) c.3721A>G (p.Ser1241Gly) c.3550A>G (p.Ser1184Gly) c.3436A>G (p.Ser1146Gly) c.2998A>G (p.Ser1000Gly) n.4266A>G | |
3 | g.47000189A>T | CA352516893 | NBEAL2 | c.4090A>T (p.Ser1364Cys) c.3988A>T (p.Ser1330Cys) n.427A>T c.1960-7A>T c.562A>T (p.Ser188Cys) c.4009A>T (p.Ser1337Cys) c.4069A>T (p.Ser1357Cys) c.3721A>T (p.Ser1241Cys) c.3550A>T (p.Ser1184Cys) c.3436A>T (p.Ser1146Cys) c.2998A>T (p.Ser1000Cys) n.4266A>T | |
3 | g.47000190G>A | CA352516894 | NBEAL2 | c.4091G>A (p.Ser1364Asn) c.3989G>A (p.Ser1330Asn) n.428G>A c.1960-6G>A c.563G>A (p.Ser188Asn) c.4010G>A (p.Ser1337Asn) c.4070G>A (p.Ser1357Asn) c.3722G>A (p.Ser1241Asn) c.3551G>A (p.Ser1184Asn) c.3437G>A (p.Ser1146Asn) c.2999G>A (p.Ser1000Asn) n.4267G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000190G>C | CA352516895 | NBEAL2 | c.4091G>C (p.Ser1364Thr) c.3989G>C (p.Ser1330Thr) n.428G>C c.1960-6G>C c.563G>C (p.Ser188Thr) c.4010G>C (p.Ser1337Thr) c.4070G>C (p.Ser1357Thr) c.3722G>C (p.Ser1241Thr) c.3551G>C (p.Ser1184Thr) c.3437G>C (p.Ser1146Thr) c.2999G>C (p.Ser1000Thr) n.4267G>C | |
3 | g.47000190G= | CA1362363061 | NBEAL2 | c.4091G= (p.Ser1364=) c.3989G= (p.Ser1330=) n.428G= c.1960-6G= c.563G= (p.Ser188=) c.4010G= (p.Ser1337=) c.4070G= (p.Ser1357=) c.3722G= (p.Ser1241=) c.3551G= (p.Ser1184=) c.3437G= (p.Ser1146=) c.2999G= (p.Ser1000=) n.4267G= | |
3 | g.47000190G>T | CA352516896 | NBEAL2 | c.4091G>T (p.Ser1364Ile) c.3989G>T (p.Ser1330Ile) n.428G>T c.1960-6G>T c.563G>T (p.Ser188Ile) c.4010G>T (p.Ser1337Ile) c.4070G>T (p.Ser1357Ile) c.3722G>T (p.Ser1241Ile) c.3551G>T (p.Ser1184Ile) c.3437G>T (p.Ser1146Ile) c.2999G>T (p.Ser1000Ile) n.4267G>T | |
3 | g.47000192_47000193del | CA2665493245 | NBEAL2 | c.4093_4094del (p.Val1365ArgfsTer?) c.3991_3992del (p.Val1331ArgfsTer?) n.430_431del c.1960-4_1960-3del c.565_566del (p.Val189ArgfsTer?) c.4012_4013del (p.Val1338ArgfsTer?) c.4072_4073del (p.Val1358ArgfsTer?) c.3724_3725del (p.Val1242ArgfsTer?) c.3553_3554del (p.Val1185ArgfsTer?) c.3439_3440del (p.Val1147ArgfsTer?) c.3001_3002del (p.Val1001ArgfsTer?) n.4269_4270del | gnomAD v4 |
3 | g.47000191T>A | CA352516897 | NBEAL2 | c.4092T>A (p.Ser1364Arg) c.3990T>A (p.Ser1330Arg) n.429T>A c.1960-5T>A c.564T>A (p.Ser188Arg) c.4011T>A (p.Ser1337Arg) c.4071T>A (p.Ser1357Arg) c.3723T>A (p.Ser1241Arg) c.3552T>A (p.Ser1184Arg) c.3438T>A (p.Ser1146Arg) c.3000T>A (p.Ser1000Arg) n.4268T>A | |
3 | g.47000191T>C | CA433598436 | NBEAL2 | c.4092T>C (p.Ser1364=) c.3990T>C (p.Ser1330=) n.429T>C c.1960-5T>C c.564T>C (p.Ser188=) c.4011T>C (p.Ser1337=) c.4071T>C (p.Ser1357=) c.3723T>C (p.Ser1241=) c.3552T>C (p.Ser1184=) c.3438T>C (p.Ser1146=) c.3000T>C (p.Ser1000=) n.4268T>C | gnomAD v4 |
3 | g.47000191T>G | CA352516898 | NBEAL2 | c.4092T>G (p.Ser1364Arg) c.3990T>G (p.Ser1330Arg) n.429T>G c.1960-5T>G c.564T>G (p.Ser188Arg) c.4011T>G (p.Ser1337Arg) c.4071T>G (p.Ser1357Arg) c.3723T>G (p.Ser1241Arg) c.3552T>G (p.Ser1184Arg) c.3438T>G (p.Ser1146Arg) c.3000T>G (p.Ser1000Arg) n.4268T>G | |
3 | g.47000192G>A | CA352516899 | NBEAL2 | c.4093G>A (p.Val1365Ile) c.3991G>A (p.Val1331Ile) n.430G>A c.1960-4G>A c.565G>A (p.Val189Ile) c.4012G>A (p.Val1338Ile) c.4072G>A (p.Val1358Ile) c.3724G>A (p.Val1242Ile) c.3553G>A (p.Val1185Ile) c.3439G>A (p.Val1147Ile) c.3001G>A (p.Val1001Ile) n.4269G>A | |
3 | g.47000192G>C | CA352516900 | NBEAL2 | c.4093G>C (p.Val1365Leu) c.3991G>C (p.Val1331Leu) n.430G>C c.1960-4G>C c.565G>C (p.Val189Leu) c.4012G>C (p.Val1338Leu) c.4072G>C (p.Val1358Leu) c.3724G>C (p.Val1242Leu) c.3553G>C (p.Val1185Leu) c.3439G>C (p.Val1147Leu) c.3001G>C (p.Val1001Leu) n.4269G>C | COSMIC COSMIC |
3 | g.47000192G>T | CA352516901 | NBEAL2 | c.4093G>T (p.Val1365Leu) c.3991G>T (p.Val1331Leu) n.430G>T c.1960-4G>T c.565G>T (p.Val189Leu) c.4012G>T (p.Val1338Leu) c.4072G>T (p.Val1358Leu) c.3724G>T (p.Val1242Leu) c.3553G>T (p.Val1185Leu) c.3439G>T (p.Val1147Leu) c.3001G>T (p.Val1001Leu) n.4269G>T | |
3 | g.47000193T>A | CA352516902 | NBEAL2 | c.4094T>A (p.Val1365Glu) c.3992T>A (p.Val1331Glu) n.431T>A c.1960-3T>A c.566T>A (p.Val189Glu) c.4013T>A (p.Val1338Glu) c.4073T>A (p.Val1358Glu) c.3725T>A (p.Val1242Glu) c.3554T>A (p.Val1185Glu) c.3440T>A (p.Val1147Glu) c.3002T>A (p.Val1001Glu) n.4270T>A | |
3 | g.47000193T>C | CA352516903 | NBEAL2 | c.4094T>C (p.Val1365Ala) c.3992T>C (p.Val1331Ala) n.431T>C c.1960-3T>C c.566T>C (p.Val189Ala) c.4013T>C (p.Val1338Ala) c.4073T>C (p.Val1358Ala) c.3725T>C (p.Val1242Ala) c.3554T>C (p.Val1185Ala) c.3440T>C (p.Val1147Ala) c.3002T>C (p.Val1001Ala) n.4270T>C | |
3 | g.47000193T>G | CA352516904 | NBEAL2 | c.4094T>G (p.Val1365Gly) c.3992T>G (p.Val1331Gly) n.431T>G c.1960-3T>G c.566T>G (p.Val189Gly) c.4013T>G (p.Val1338Gly) c.4073T>G (p.Val1358Gly) c.3725T>G (p.Val1242Gly) c.3554T>G (p.Val1185Gly) c.3440T>G (p.Val1147Gly) c.3002T>G (p.Val1001Gly) n.4270T>G | |
3 | g.47000194A>C | CA433598441 | NBEAL2 | c.4095A>C (p.Val1365=) c.3993A>C (p.Val1331=) n.432A>C c.1960-2A>C c.567A>C (p.Val189=) c.4014A>C (p.Val1338=) c.4074A>C (p.Val1358=) c.3726A>C (p.Val1242=) c.3555A>C (p.Val1185=) c.3441A>C (p.Val1147=) c.3003A>C (p.Val1001=) n.4271A>C | |
3 | g.47000194A>G | CA433598440 | NBEAL2 | c.4095A>G (p.Val1365=) c.3993A>G (p.Val1331=) n.432A>G c.1960-2A>G c.567A>G (p.Val189=) c.4014A>G (p.Val1338=) c.4074A>G (p.Val1358=) c.3726A>G (p.Val1242=) c.3555A>G (p.Val1185=) c.3441A>G (p.Val1147=) c.3003A>G (p.Val1001=) n.4271A>G | |
3 | g.47000194A>T | CA433598442 | NBEAL2 | c.4095A>T (p.Val1365=) c.3993A>T (p.Val1331=) n.432A>T c.1960-2A>T c.567A>T (p.Val189=) c.4014A>T (p.Val1338=) c.4074A>T (p.Val1358=) c.3726A>T (p.Val1242=) c.3555A>T (p.Val1185=) c.3441A>T (p.Val1147=) c.3003A>T (p.Val1001=) n.4271A>T | |
3 | g.47000195G>A | CA352516907 | NBEAL2 | c.4096G>A (p.Gly1366Arg) c.3994G>A (p.Gly1332Arg) n.433G>A c.1960-1G>A c.568G>A (p.Gly190Arg) c.4015G>A (p.Gly1339Arg) c.4075G>A (p.Gly1359Arg) c.3727G>A (p.Gly1243Arg) c.3556G>A (p.Gly1186Arg) c.3442G>A (p.Gly1148Arg) c.3004G>A (p.Gly1002Arg) n.4272G>A | |
3 | g.47000195G>C | CA352516906 | NBEAL2 | c.4096G>C (p.Gly1366Arg) c.3994G>C (p.Gly1332Arg) n.433G>C c.1960-1G>C c.568G>C (p.Gly190Arg) c.4015G>C (p.Gly1339Arg) c.4075G>C (p.Gly1359Arg) c.3727G>C (p.Gly1243Arg) c.3556G>C (p.Gly1186Arg) c.3442G>C (p.Gly1148Arg) c.3004G>C (p.Gly1002Arg) n.4272G>C | |
3 | g.47000195G>T | CA352516905 | NBEAL2 | c.4096G>T (p.Gly1366Ter) c.3994G>T (p.Gly1332Ter) n.433G>T c.1960-1G>T c.568G>T (p.Gly190Ter) c.4015G>T (p.Gly1339Ter) c.4075G>T (p.Gly1359Ter) c.3727G>T (p.Gly1243Ter) c.3556G>T (p.Gly1186Ter) c.3442G>T (p.Gly1148Ter) c.3004G>T (p.Gly1002Ter) n.4272G>T | |
3 | g.47000196G>A | CA352516908 | NBEAL2 | c.4097G>A (p.Gly1366Glu) c.3995G>A (p.Gly1332Glu) n.434G>A c.1960G>A c.569G>A (p.Gly190Glu) c.4016G>A (p.Gly1339Glu) c.4076G>A (p.Gly1359Glu) c.3728G>A (p.Gly1243Glu) c.3557G>A (p.Gly1186Glu) c.3443G>A (p.Gly1148Glu) c.3005G>A (p.Gly1002Glu) n.4273G>A | |
3 | g.47000196G>C | CA2361142 | NBEAL2 | c.4097G>C (p.Gly1366Ala) c.3995G>C (p.Gly1332Ala) n.434G>C c.1960G>C c.569G>C (p.Gly190Ala) c.4016G>C (p.Gly1339Ala) c.4076G>C (p.Gly1359Ala) c.3728G>C (p.Gly1243Ala) c.3557G>C (p.Gly1186Ala) c.3443G>C (p.Gly1148Ala) c.3005G>C (p.Gly1002Ala) n.4273G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000196G= | CA1362363062 | NBEAL2 | c.4097G= (p.Gly1366=) c.3995G= (p.Gly1332=) n.434G= c.1960G= c.569G= (p.Gly190=) c.4016G= (p.Gly1339=) c.4076G= (p.Gly1359=) c.3728G= (p.Gly1243=) c.3557G= (p.Gly1186=) c.3443G= (p.Gly1148=) c.3005G= (p.Gly1002=) n.4273G= | |
3 | g.47000196G>T | CA352516909 | NBEAL2 | c.4097G>T (p.Gly1366Val) c.3995G>T (p.Gly1332Val) n.434G>T c.1960G>T c.569G>T (p.Gly190Val) c.4016G>T (p.Gly1339Val) c.4076G>T (p.Gly1359Val) c.3728G>T (p.Gly1243Val) c.3557G>T (p.Gly1186Val) c.3443G>T (p.Gly1148Val) c.3005G>T (p.Gly1002Val) n.4273G>T | COSMIC COSMIC |
3 | g.47000197A>C | CA433598219 | NBEAL2 | c.4098A>C (p.Gly1366=) c.3996A>C (p.Gly1332=) n.435A>C c.1961A>C c.570A>C (p.Gly190=) c.4017A>C (p.Gly1339=) c.4077A>C (p.Gly1359=) c.3729A>C (p.Gly1243=) c.3558A>C (p.Gly1186=) c.3444A>C (p.Gly1148=) c.3006A>C (p.Gly1002=) n.4274A>C | |
3 | g.47000197A>G | CA433598221 | NBEAL2 | c.4098A>G (p.Gly1366=) c.3996A>G (p.Gly1332=) n.435A>G c.1961A>G c.570A>G (p.Gly190=) c.4017A>G (p.Gly1339=) c.4077A>G (p.Gly1359=) c.3729A>G (p.Gly1243=) c.3558A>G (p.Gly1186=) c.3444A>G (p.Gly1148=) c.3006A>G (p.Gly1002=) n.4274A>G | |
3 | g.47000197A>T | CA433598223 | NBEAL2 | c.4098A>T (p.Gly1366=) c.3996A>T (p.Gly1332=) n.435A>T c.1961A>T c.570A>T (p.Gly190=) c.4017A>T (p.Gly1339=) c.4077A>T (p.Gly1359=) c.3729A>T (p.Gly1243=) c.3558A>T (p.Gly1186=) c.3444A>T (p.Gly1148=) c.3006A>T (p.Gly1002=) n.4274A>T | |
3 | g.47000198T>A | CA352516910 | NBEAL2 | c.4099T>A (p.Ser1367Thr) c.3997T>A (p.Ser1333Thr) n.436T>A c.1962T>A c.571T>A (p.Ser191Thr) c.4018T>A (p.Ser1340Thr) c.4078T>A (p.Ser1360Thr) c.3730T>A (p.Ser1244Thr) c.3559T>A (p.Ser1187Thr) c.3445T>A (p.Ser1149Thr) c.3007T>A (p.Ser1003Thr) n.4275T>A | |
3 | g.47000198T>C | CA352516911 | NBEAL2 | c.4099T>C (p.Ser1367Pro) c.3997T>C (p.Ser1333Pro) n.436T>C c.1962T>C c.571T>C (p.Ser191Pro) c.4018T>C (p.Ser1340Pro) c.4078T>C (p.Ser1360Pro) c.3730T>C (p.Ser1244Pro) c.3559T>C (p.Ser1187Pro) c.3445T>C (p.Ser1149Pro) c.3007T>C (p.Ser1003Pro) n.4275T>C | |
3 | g.47000198T>G | CA352516912 | NBEAL2 | c.4099T>G (p.Ser1367Ala) c.3997T>G (p.Ser1333Ala) n.436T>G c.1962T>G c.571T>G (p.Ser191Ala) c.4018T>G (p.Ser1340Ala) c.4078T>G (p.Ser1360Ala) c.3730T>G (p.Ser1244Ala) c.3559T>G (p.Ser1187Ala) c.3445T>G (p.Ser1149Ala) c.3007T>G (p.Ser1003Ala) n.4275T>G | |
3 | g.47000199C>A | CA352516913 | NBEAL2 | c.4100C>A (p.Ser1367Ter) c.3998C>A (p.Ser1333Ter) n.437C>A c.1963C>A c.572C>A (p.Ser191Ter) c.4019C>A (p.Ser1340Ter) c.4079C>A (p.Ser1360Ter) c.3731C>A (p.Ser1244Ter) c.3560C>A (p.Ser1187Ter) c.3446C>A (p.Ser1149Ter) c.3008C>A (p.Ser1003Ter) n.4276C>A | |
3 | g.47000199C>G | CA352516915 | NBEAL2 | c.4100C>G (p.Ser1367Ter) c.3998C>G (p.Ser1333Ter) n.437C>G c.1963C>G c.572C>G (p.Ser191Ter) c.4019C>G (p.Ser1340Ter) c.4079C>G (p.Ser1360Ter) c.3731C>G (p.Ser1244Ter) c.3560C>G (p.Ser1187Ter) c.3446C>G (p.Ser1149Ter) c.3008C>G (p.Ser1003Ter) n.4276C>G | |
3 | g.47000199C>T | CA352516914 | NBEAL2 | c.4100C>T (p.Ser1367Leu) c.3998C>T (p.Ser1333Leu) n.437C>T c.1963C>T c.572C>T (p.Ser191Leu) c.4019C>T (p.Ser1340Leu) c.4079C>T (p.Ser1360Leu) c.3731C>T (p.Ser1244Leu) c.3560C>T (p.Ser1187Leu) c.3446C>T (p.Ser1149Leu) c.3008C>T (p.Ser1003Leu) n.4276C>T | gnomAD v4 |
3 | g.47000200A>C | CA433598225 | NBEAL2 | c.4101A>C (p.Ser1367=) c.3999A>C (p.Ser1333=) n.438A>C c.1964A>C c.573A>C (p.Ser191=) c.4020A>C (p.Ser1340=) c.4080A>C (p.Ser1360=) c.3732A>C (p.Ser1244=) c.3561A>C (p.Ser1187=) c.3447A>C (p.Ser1149=) c.3009A>C (p.Ser1003=) n.4277A>C | |
3 | g.47000200A>G | CA433598226 | NBEAL2 | c.4101A>G (p.Ser1367=) c.3999A>G (p.Ser1333=) n.438A>G c.1964A>G c.573A>G (p.Ser191=) c.4020A>G (p.Ser1340=) c.4080A>G (p.Ser1360=) c.3732A>G (p.Ser1244=) c.3561A>G (p.Ser1187=) c.3447A>G (p.Ser1149=) c.3009A>G (p.Ser1003=) n.4277A>G | |
3 | g.47000200A>T | CA433598227 | NBEAL2 | c.4101A>T (p.Ser1367=) c.3999A>T (p.Ser1333=) n.438A>T c.1964A>T c.573A>T (p.Ser191=) c.4020A>T (p.Ser1340=) c.4080A>T (p.Ser1360=) c.3732A>T (p.Ser1244=) c.3561A>T (p.Ser1187=) c.3447A>T (p.Ser1149=) c.3009A>T (p.Ser1003=) n.4277A>T | |
3 | g.47000201G>A | CA73817788 | NBEAL2 | c.4102G>A (p.Gly1368Ser) c.4000G>A (p.Gly1334Ser) n.439G>A c.1965G>A c.574G>A (p.Gly192Ser) c.4021G>A (p.Gly1341Ser) c.4081G>A (p.Gly1361Ser) c.3733G>A (p.Gly1245Ser) c.3562G>A (p.Gly1188Ser) c.3448G>A (p.Gly1150Ser) c.3010G>A (p.Gly1004Ser) n.4278G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000201G>C | CA352516916 | NBEAL2 | c.4102G>C (p.Gly1368Arg) c.4000G>C (p.Gly1334Arg) n.439G>C c.1965G>C c.574G>C (p.Gly192Arg) c.4021G>C (p.Gly1341Arg) c.4081G>C (p.Gly1361Arg) c.3733G>C (p.Gly1245Arg) c.3562G>C (p.Gly1188Arg) c.3448G>C (p.Gly1150Arg) c.3010G>C (p.Gly1004Arg) n.4278G>C | |
3 | g.47000201G= | CA1362363063 | NBEAL2 | c.4102G= (p.Gly1368=) c.4000G= (p.Gly1334=) n.439G= c.1965G= c.574G= (p.Gly192=) c.4021G= (p.Gly1341=) c.4081G= (p.Gly1361=) c.3733G= (p.Gly1245=) c.3562G= (p.Gly1188=) c.3448G= (p.Gly1150=) c.3010G= (p.Gly1004=) n.4278G= | |
3 | g.47000201G>T | CA352516917 | NBEAL2 | c.4102G>T (p.Gly1368Cys) c.4000G>T (p.Gly1334Cys) n.439G>T c.1965G>T c.574G>T (p.Gly192Cys) c.4021G>T (p.Gly1341Cys) c.4081G>T (p.Gly1361Cys) c.3733G>T (p.Gly1245Cys) c.3562G>T (p.Gly1188Cys) c.3448G>T (p.Gly1150Cys) c.3010G>T (p.Gly1004Cys) n.4278G>T | |
3 | g.47000202G>A | CA2361143 | NBEAL2 | c.4103G>A (p.Gly1368Asp) c.4001G>A (p.Gly1334Asp) n.440G>A c.1966G>A c.575G>A (p.Gly192Asp) c.4022G>A (p.Gly1341Asp) c.4082G>A (p.Gly1361Asp) c.3734G>A (p.Gly1245Asp) c.3563G>A (p.Gly1188Asp) c.3449G>A (p.Gly1150Asp) c.3011G>A (p.Gly1004Asp) n.4279G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000202G>C | CA352516918 | NBEAL2 | c.4103G>C (p.Gly1368Ala) c.4001G>C (p.Gly1334Ala) n.440G>C c.1966G>C c.575G>C (p.Gly192Ala) c.4022G>C (p.Gly1341Ala) c.4082G>C (p.Gly1361Ala) c.3734G>C (p.Gly1245Ala) c.3563G>C (p.Gly1188Ala) c.3449G>C (p.Gly1150Ala) c.3011G>C (p.Gly1004Ala) n.4279G>C | |
3 | g.47000202G= | CA1362363064 | NBEAL2 | c.4103G= (p.Gly1368=) c.4001G= (p.Gly1334=) n.440G= c.1966G= c.575G= (p.Gly192=) c.4022G= (p.Gly1341=) c.4082G= (p.Gly1361=) c.3734G= (p.Gly1245=) c.3563G= (p.Gly1188=) c.3449G= (p.Gly1150=) c.3011G= (p.Gly1004=) n.4279G= | |
3 | g.47000202G>T | CA352516919 | NBEAL2 | c.4103G>T (p.Gly1368Val) c.4001G>T (p.Gly1334Val) n.440G>T c.1966G>T c.575G>T (p.Gly192Val) c.4022G>T (p.Gly1341Val) c.4082G>T (p.Gly1361Val) c.3734G>T (p.Gly1245Val) c.3563G>T (p.Gly1188Val) c.3449G>T (p.Gly1150Val) c.3011G>T (p.Gly1004Val) n.4279G>T | gnomAD v4 |
3 | g.47000203C>A | CA433598229 | NBEAL2 | c.4104C>A (p.Gly1368=) c.4002C>A (p.Gly1334=) n.441C>A c.1967C>A c.576C>A (p.Gly192=) c.4023C>A (p.Gly1341=) c.4083C>A (p.Gly1361=) c.3735C>A (p.Gly1245=) c.3564C>A (p.Gly1188=) c.3450C>A (p.Gly1150=) c.3012C>A (p.Gly1004=) n.4280C>A | |
3 | g.47000203C>G | CA433598231 | NBEAL2 | c.4104C>G (p.Gly1368=) c.4002C>G (p.Gly1334=) n.441C>G c.1967C>G c.576C>G (p.Gly192=) c.4023C>G (p.Gly1341=) c.4083C>G (p.Gly1361=) c.3735C>G (p.Gly1245=) c.3564C>G (p.Gly1188=) c.3450C>G (p.Gly1150=) c.3012C>G (p.Gly1004=) n.4280C>G | |
3 | g.47000203C>T | CA433598233 | NBEAL2 | c.4104C>T (p.Gly1368=) c.4002C>T (p.Gly1334=) n.441C>T c.1967C>T c.576C>T (p.Gly192=) c.4023C>T (p.Gly1341=) c.4083C>T (p.Gly1361=) c.3735C>T (p.Gly1245=) c.3564C>T (p.Gly1188=) c.3450C>T (p.Gly1150=) c.3012C>T (p.Gly1004=) n.4280C>T | |
3 | g.47000204A>C | CA352516920 | NBEAL2 | c.4105A>C (p.Asn1369His) c.4003A>C (p.Asn1335His) n.442A>C c.1968A>C c.577A>C (p.Asn193His) c.4024A>C (p.Asn1342His) c.4084A>C (p.Asn1362His) c.3736A>C (p.Asn1246His) c.3565A>C (p.Asn1189His) c.3451A>C (p.Asn1151His) c.3013A>C (p.Asn1005His) n.4281A>C | |
3 | g.47000204A>G | CA352516921 | NBEAL2 | c.4105A>G (p.Asn1369Asp) c.4003A>G (p.Asn1335Asp) n.442A>G c.1968A>G c.577A>G (p.Asn193Asp) c.4024A>G (p.Asn1342Asp) c.4084A>G (p.Asn1362Asp) c.3736A>G (p.Asn1246Asp) c.3565A>G (p.Asn1189Asp) c.3451A>G (p.Asn1151Asp) c.3013A>G (p.Asn1005Asp) n.4281A>G | |
3 | g.47000204A>T | CA352516922 | NBEAL2 | c.4105A>T (p.Asn1369Tyr) c.4003A>T (p.Asn1335Tyr) n.442A>T c.1968A>T c.577A>T (p.Asn193Tyr) c.4024A>T (p.Asn1342Tyr) c.4084A>T (p.Asn1362Tyr) c.3736A>T (p.Asn1246Tyr) c.3565A>T (p.Asn1189Tyr) c.3451A>T (p.Asn1151Tyr) c.3013A>T (p.Asn1005Tyr) n.4281A>T | |
3 | g.47000205A= | CA1362363065 | NBEAL2 | c.4106A= (p.Asn1369=) c.4004A= (p.Asn1335=) n.443A= c.1969A= c.578A= (p.Asn193=) c.4025A= (p.Asn1342=) c.4085A= (p.Asn1362=) c.3737A= (p.Asn1246=) c.3566A= (p.Asn1189=) c.3452A= (p.Asn1151=) c.3014A= (p.Asn1005=) n.4282A= | |
3 | g.47000205A>C | CA352516923 | NBEAL2 | c.4106A>C (p.Asn1369Thr) c.4004A>C (p.Asn1335Thr) n.443A>C c.1969A>C c.578A>C (p.Asn193Thr) c.4025A>C (p.Asn1342Thr) c.4085A>C (p.Asn1362Thr) c.3737A>C (p.Asn1246Thr) c.3566A>C (p.Asn1189Thr) c.3452A>C (p.Asn1151Thr) c.3014A>C (p.Asn1005Thr) n.4282A>C | |
3 | g.47000205A>G | CA352516924 | NBEAL2 | c.4106A>G (p.Asn1369Ser) c.4004A>G (p.Asn1335Ser) n.443A>G c.1969A>G c.578A>G (p.Asn193Ser) c.4025A>G (p.Asn1342Ser) c.4085A>G (p.Asn1362Ser) c.3737A>G (p.Asn1246Ser) c.3566A>G (p.Asn1189Ser) c.3452A>G (p.Asn1151Ser) c.3014A>G (p.Asn1005Ser) n.4282A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000205A>T | CA352516925 | NBEAL2 | c.4106A>T (p.Asn1369Ile) c.4004A>T (p.Asn1335Ile) n.443A>T c.1969A>T c.578A>T (p.Asn193Ile) c.4025A>T (p.Asn1342Ile) c.4085A>T (p.Asn1362Ile) c.3737A>T (p.Asn1246Ile) c.3566A>T (p.Asn1189Ile) c.3452A>T (p.Asn1151Ile) c.3014A>T (p.Asn1005Ile) n.4282A>T | |
3 | g.47000206C>A | CA352516926 | NBEAL2 | c.4107C>A (p.Asn1369Lys) c.4005C>A (p.Asn1335Lys) n.444C>A c.1970C>A c.579C>A (p.Asn193Lys) c.4026C>A (p.Asn1342Lys) c.4086C>A (p.Asn1362Lys) c.3738C>A (p.Asn1246Lys) c.3567C>A (p.Asn1189Lys) c.3453C>A (p.Asn1151Lys) c.3015C>A (p.Asn1005Lys) n.4283C>A | |
3 | g.47000206C= | CA1362363066 | NBEAL2 | c.4107C= (p.Asn1369=) c.4005C= (p.Asn1335=) n.444C= c.1970C= c.579C= (p.Asn193=) c.4026C= (p.Asn1342=) c.4086C= (p.Asn1362=) c.3738C= (p.Asn1246=) c.3567C= (p.Asn1189=) c.3453C= (p.Asn1151=) c.3015C= (p.Asn1005=) n.4283C= | |
3 | g.47000206C>G | CA352516927 | NBEAL2 | c.4107C>G (p.Asn1369Lys) c.4005C>G (p.Asn1335Lys) n.444C>G c.1970C>G c.579C>G (p.Asn193Lys) c.4026C>G (p.Asn1342Lys) c.4086C>G (p.Asn1362Lys) c.3738C>G (p.Asn1246Lys) c.3567C>G (p.Asn1189Lys) c.3453C>G (p.Asn1151Lys) c.3015C>G (p.Asn1005Lys) n.4283C>G | dbSNP gnomAD v4 |
3 | g.47000206C>T | CA2361144 | NBEAL2 | c.4107C>T (p.Asn1369=) c.4005C>T (p.Asn1335=) n.444C>T c.1970C>T c.579C>T (p.Asn193=) c.4026C>T (p.Asn1342=) c.4086C>T (p.Asn1362=) c.3738C>T (p.Asn1246=) c.3567C>T (p.Asn1189=) c.3453C>T (p.Asn1151=) c.3015C>T (p.Asn1005=) n.4283C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000207A= | CA1362363067 | NBEAL2 | c.4108A= (p.Thr1370=) c.4006A= (p.Thr1336=) n.445A= c.1971A= c.580A= (p.Thr194=) c.4027A= (p.Thr1343=) c.4087A= (p.Thr1363=) c.3739A= (p.Thr1247=) c.3568A= (p.Thr1190=) c.3454A= (p.Thr1152=) c.3016A= (p.Thr1006=) n.4284A= | |
3 | g.47000207A>C | CA352516928 | NBEAL2 | c.4108A>C (p.Thr1370Pro) c.4006A>C (p.Thr1336Pro) n.445A>C c.1971A>C c.580A>C (p.Thr194Pro) c.4027A>C (p.Thr1343Pro) c.4087A>C (p.Thr1363Pro) c.3739A>C (p.Thr1247Pro) c.3568A>C (p.Thr1190Pro) c.3454A>C (p.Thr1152Pro) c.3016A>C (p.Thr1006Pro) n.4284A>C | |
3 | g.47000207A>G | CA73817796 | NBEAL2 | c.4108A>G (p.Thr1370Ala) c.4006A>G (p.Thr1336Ala) n.445A>G c.1971A>G c.580A>G (p.Thr194Ala) c.4027A>G (p.Thr1343Ala) c.4087A>G (p.Thr1363Ala) c.3739A>G (p.Thr1247Ala) c.3568A>G (p.Thr1190Ala) c.3454A>G (p.Thr1152Ala) c.3016A>G (p.Thr1006Ala) n.4284A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000207A>T | CA352516929 | NBEAL2 | c.4108A>T (p.Thr1370Ser) c.4006A>T (p.Thr1336Ser) n.445A>T c.1971A>T c.580A>T (p.Thr194Ser) c.4027A>T (p.Thr1343Ser) c.4087A>T (p.Thr1363Ser) c.3739A>T (p.Thr1247Ser) c.3568A>T (p.Thr1190Ser) c.3454A>T (p.Thr1152Ser) c.3016A>T (p.Thr1006Ser) n.4284A>T | |
3 | g.47000208C>A | CA352516930 | NBEAL2 | c.4109C>A (p.Thr1370Asn) c.4007C>A (p.Thr1336Asn) n.446C>A c.1972C>A c.581C>A (p.Thr194Asn) c.4028C>A (p.Thr1343Asn) c.4088C>A (p.Thr1363Asn) c.3740C>A (p.Thr1247Asn) c.3569C>A (p.Thr1190Asn) c.3455C>A (p.Thr1152Asn) c.3017C>A (p.Thr1006Asn) n.4285C>A | gnomAD v4 |
3 | g.47000208C= | CA1362363068 | NBEAL2 | c.4109C= (p.Thr1370=) c.4007C= (p.Thr1336=) n.446C= c.1972C= c.581C= (p.Thr194=) c.4028C= (p.Thr1343=) c.4088C= (p.Thr1363=) c.3740C= (p.Thr1247=) c.3569C= (p.Thr1190=) c.3455C= (p.Thr1152=) c.3017C= (p.Thr1006=) n.4285C= | |
3 | g.47000208C>G | CA352516931 | NBEAL2 | c.4109C>G (p.Thr1370Ser) c.4007C>G (p.Thr1336Ser) n.446C>G c.1972C>G c.581C>G (p.Thr194Ser) c.4028C>G (p.Thr1343Ser) c.4088C>G (p.Thr1363Ser) c.3740C>G (p.Thr1247Ser) c.3569C>G (p.Thr1190Ser) c.3455C>G (p.Thr1152Ser) c.3017C>G (p.Thr1006Ser) n.4285C>G | |
3 | g.47000208C>T | CA352516932 | NBEAL2 | c.4109C>T (p.Thr1370Ile) c.4007C>T (p.Thr1336Ile) n.446C>T c.1972C>T c.581C>T (p.Thr194Ile) c.4028C>T (p.Thr1343Ile) c.4088C>T (p.Thr1363Ile) c.3740C>T (p.Thr1247Ile) c.3569C>T (p.Thr1190Ile) c.3455C>T (p.Thr1152Ile) c.3017C>T (p.Thr1006Ile) n.4285C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000209T>A | CA433598241 | NBEAL2 | c.4110T>A (p.Thr1370=) c.4008T>A (p.Thr1336=) n.447T>A c.1973T>A c.582T>A (p.Thr194=) c.4029T>A (p.Thr1343=) c.4089T>A (p.Thr1363=) c.3741T>A (p.Thr1247=) c.3570T>A (p.Thr1190=) c.3456T>A (p.Thr1152=) c.3018T>A (p.Thr1006=) n.4286T>A | |
3 | g.47000209T>C | CA433598242 | NBEAL2 | c.4110T>C (p.Thr1370=) c.4008T>C (p.Thr1336=) n.447T>C c.1973T>C c.582T>C (p.Thr194=) c.4029T>C (p.Thr1343=) c.4089T>C (p.Thr1363=) c.3741T>C (p.Thr1247=) c.3570T>C (p.Thr1190=) c.3456T>C (p.Thr1152=) c.3018T>C (p.Thr1006=) n.4286T>C | dbSNP |
3 | g.47000209T>G | CA433598240 | NBEAL2 | c.4110T>G (p.Thr1370=) c.4008T>G (p.Thr1336=) n.447T>G c.1973T>G c.582T>G (p.Thr194=) c.4029T>G (p.Thr1343=) c.4089T>G (p.Thr1363=) c.3741T>G (p.Thr1247=) c.3570T>G (p.Thr1190=) c.3456T>G (p.Thr1152=) c.3018T>G (p.Thr1006=) n.4286T>G | |
3 | g.47000209T= | CA1362363069 | NBEAL2 | c.4110T= (p.Thr1370=) c.4008T= (p.Thr1336=) n.447T= c.1973T= c.582T= (p.Thr194=) c.4029T= (p.Thr1343=) c.4089T= (p.Thr1363=) c.3741T= (p.Thr1247=) c.3570T= (p.Thr1190=) c.3456T= (p.Thr1152=) c.3018T= (p.Thr1006=) n.4286T= | |
3 | g.47000210G>A | CA352516933 | NBEAL2 | c.4111G>A (p.Ala1371Thr) c.4009G>A (p.Ala1337Thr) n.448G>A c.1974G>A c.583G>A (p.Ala195Thr) c.4030G>A (p.Ala1344Thr) c.4090G>A (p.Ala1364Thr) c.3742G>A (p.Ala1248Thr) c.3571G>A (p.Ala1191Thr) c.3457G>A (p.Ala1153Thr) c.3019G>A (p.Ala1007Thr) n.4287G>A | gnomAD v4 |
3 | g.47000210G>C | CA352516934 | NBEAL2 | c.4111G>C (p.Ala1371Pro) c.4009G>C (p.Ala1337Pro) n.448G>C c.1974G>C c.583G>C (p.Ala195Pro) c.4030G>C (p.Ala1344Pro) c.4090G>C (p.Ala1364Pro) c.3742G>C (p.Ala1248Pro) c.3571G>C (p.Ala1191Pro) c.3457G>C (p.Ala1153Pro) c.3019G>C (p.Ala1007Pro) n.4287G>C | |
3 | g.47000210G>T | CA352516935 | NBEAL2 | c.4111G>T (p.Ala1371Ser) c.4009G>T (p.Ala1337Ser) n.448G>T c.1974G>T c.583G>T (p.Ala195Ser) c.4030G>T (p.Ala1344Ser) c.4090G>T (p.Ala1364Ser) c.3742G>T (p.Ala1248Ser) c.3571G>T (p.Ala1191Ser) c.3457G>T (p.Ala1153Ser) c.3019G>T (p.Ala1007Ser) n.4287G>T | |
3 | g.47000211C>A | CA352516936 | NBEAL2 | c.4112C>A (p.Ala1371Asp) c.4010C>A (p.Ala1337Asp) n.449C>A c.1975C>A c.584C>A (p.Ala195Asp) c.4031C>A (p.Ala1344Asp) c.4091C>A (p.Ala1364Asp) c.3743C>A (p.Ala1248Asp) c.3572C>A (p.Ala1191Asp) c.3458C>A (p.Ala1153Asp) c.3020C>A (p.Ala1007Asp) n.4288C>A | |
3 | g.47000211C>G | CA352516937 | NBEAL2 | c.4112C>G (p.Ala1371Gly) c.4010C>G (p.Ala1337Gly) n.449C>G c.1975C>G c.584C>G (p.Ala195Gly) c.4031C>G (p.Ala1344Gly) c.4091C>G (p.Ala1364Gly) c.3743C>G (p.Ala1248Gly) c.3572C>G (p.Ala1191Gly) c.3458C>G (p.Ala1153Gly) c.3020C>G (p.Ala1007Gly) n.4288C>G | |
3 | g.47000211C>T | CA352516938 | NBEAL2 | c.4112C>T (p.Ala1371Val) c.4010C>T (p.Ala1337Val) n.449C>T c.1975C>T c.584C>T (p.Ala195Val) c.4031C>T (p.Ala1344Val) c.4091C>T (p.Ala1364Val) c.3743C>T (p.Ala1248Val) c.3572C>T (p.Ala1191Val) c.3458C>T (p.Ala1153Val) c.3020C>T (p.Ala1007Val) n.4288C>T | |
3 | g.47000212T>A | CA433598246 | NBEAL2 | c.4113T>A (p.Ala1371=) c.4011T>A (p.Ala1337=) n.450T>A c.1976T>A c.585T>A (p.Ala195=) c.4032T>A (p.Ala1344=) c.4092T>A (p.Ala1364=) c.3744T>A (p.Ala1248=) c.3573T>A (p.Ala1191=) c.3459T>A (p.Ala1153=) c.3021T>A (p.Ala1007=) n.4289T>A | |
3 | g.47000212T>C | CA433598243 | NBEAL2 | c.4113T>C (p.Ala1371=) c.4011T>C (p.Ala1337=) n.450T>C c.1976T>C c.585T>C (p.Ala195=) c.4032T>C (p.Ala1344=) c.4092T>C (p.Ala1364=) c.3744T>C (p.Ala1248=) c.3573T>C (p.Ala1191=) c.3459T>C (p.Ala1153=) c.3021T>C (p.Ala1007=) n.4289T>C | |
3 | g.47000212T>G | CA433598245 | NBEAL2 | c.4113T>G (p.Ala1371=) c.4011T>G (p.Ala1337=) n.450T>G c.1976T>G c.585T>G (p.Ala195=) c.4032T>G (p.Ala1344=) c.4092T>G (p.Ala1364=) c.3744T>G (p.Ala1248=) c.3573T>G (p.Ala1191=) c.3459T>G (p.Ala1153=) c.3021T>G (p.Ala1007=) n.4289T>G | |
3 | g.47000213G>A | CA352516941 | NBEAL2 | c.4114G>A (p.Gly1372Ser) c.4012G>A (p.Gly1338Ser) n.451G>A c.1977G>A c.586G>A (p.Gly196Ser) c.4033G>A (p.Gly1345Ser) c.4093G>A (p.Gly1365Ser) c.3745G>A (p.Gly1249Ser) c.3574G>A (p.Gly1192Ser) c.3460G>A (p.Gly1154Ser) c.3022G>A (p.Gly1008Ser) n.4290G>A | |
3 | g.47000213G>C | CA352516939 | NBEAL2 | c.4114G>C (p.Gly1372Arg) c.4012G>C (p.Gly1338Arg) n.451G>C c.1977G>C c.586G>C (p.Gly196Arg) c.4033G>C (p.Gly1345Arg) c.4093G>C (p.Gly1365Arg) c.3745G>C (p.Gly1249Arg) c.3574G>C (p.Gly1192Arg) c.3460G>C (p.Gly1154Arg) c.3022G>C (p.Gly1008Arg) n.4290G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000213G= | CA1362363070 | NBEAL2 | c.4114G= (p.Gly1372=) c.4012G= (p.Gly1338=) n.451G= c.1977G= c.586G= (p.Gly196=) c.4033G= (p.Gly1345=) c.4093G= (p.Gly1365=) c.3745G= (p.Gly1249=) c.3574G= (p.Gly1192=) c.3460G= (p.Gly1154=) c.3022G= (p.Gly1008=) n.4290G= | |
3 | g.47000213G>T | CA352516940 | NBEAL2 | c.4114G>T (p.Gly1372Cys) c.4012G>T (p.Gly1338Cys) n.451G>T c.1977G>T c.586G>T (p.Gly196Cys) c.4033G>T (p.Gly1345Cys) c.4093G>T (p.Gly1365Cys) c.3745G>T (p.Gly1249Cys) c.3574G>T (p.Gly1192Cys) c.3460G>T (p.Gly1154Cys) c.3022G>T (p.Gly1008Cys) n.4290G>T | |
3 | g.47000214G>A | CA73817798 | NBEAL2 | c.4115G>A (p.Gly1372Asp) c.4013G>A (p.Gly1338Asp) n.452G>A c.1978G>A c.587G>A (p.Gly196Asp) c.4034G>A (p.Gly1345Asp) c.4094G>A (p.Gly1365Asp) c.3746G>A (p.Gly1249Asp) c.3575G>A (p.Gly1192Asp) c.3461G>A (p.Gly1154Asp) c.3023G>A (p.Gly1008Asp) n.4291G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000214G>C | CA352516942 | NBEAL2 | c.4115G>C (p.Gly1372Ala) c.4013G>C (p.Gly1338Ala) n.452G>C c.1978G>C c.587G>C (p.Gly196Ala) c.4034G>C (p.Gly1345Ala) c.4094G>C (p.Gly1365Ala) c.3746G>C (p.Gly1249Ala) c.3575G>C (p.Gly1192Ala) c.3461G>C (p.Gly1154Ala) c.3023G>C (p.Gly1008Ala) n.4291G>C | |
3 | g.47000214G= | CA1362363071 | NBEAL2 | c.4115G= (p.Gly1372=) c.4013G= (p.Gly1338=) n.452G= c.1978G= c.587G= (p.Gly196=) c.4034G= (p.Gly1345=) c.4094G= (p.Gly1365=) c.3746G= (p.Gly1249=) c.3575G= (p.Gly1192=) c.3461G= (p.Gly1154=) c.3023G= (p.Gly1008=) n.4291G= | |
3 | g.47000214G>T | CA2361145 | NBEAL2 | c.4115G>T (p.Gly1372Val) c.4013G>T (p.Gly1338Val) n.452G>T c.1978G>T c.587G>T (p.Gly196Val) c.4034G>T (p.Gly1345Val) c.4094G>T (p.Gly1365Val) c.3746G>T (p.Gly1249Val) c.3575G>T (p.Gly1192Val) c.3461G>T (p.Gly1154Val) c.3023G>T (p.Gly1008Val) n.4291G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000215T>A | CA433598250 | NBEAL2 | c.4116T>A (p.Gly1372=) c.4014T>A (p.Gly1338=) n.453T>A c.1979T>A c.588T>A (p.Gly196=) c.4035T>A (p.Gly1345=) c.4095T>A (p.Gly1365=) c.3747T>A (p.Gly1249=) c.3576T>A (p.Gly1192=) c.3462T>A (p.Gly1154=) c.3024T>A (p.Gly1008=) n.4292T>A | |
3 | g.47000215T>C | CA433598252 | NBEAL2 | c.4116T>C (p.Gly1372=) c.4014T>C (p.Gly1338=) n.453T>C c.1979T>C c.588T>C (p.Gly196=) c.4035T>C (p.Gly1345=) c.4095T>C (p.Gly1365=) c.3747T>C (p.Gly1249=) c.3576T>C (p.Gly1192=) c.3462T>C (p.Gly1154=) c.3024T>C (p.Gly1008=) n.4292T>C | |
3 | g.47000215T>G | CA433598248 | NBEAL2 | c.4116T>G (p.Gly1372=) c.4014T>G (p.Gly1338=) n.453T>G c.1979T>G c.588T>G (p.Gly196=) c.4035T>G (p.Gly1345=) c.4095T>G (p.Gly1365=) c.3747T>G (p.Gly1249=) c.3576T>G (p.Gly1192=) c.3462T>G (p.Gly1154=) c.3024T>G (p.Gly1008=) n.4292T>G | |
3 | g.47000216G>A | CA352516943 | NBEAL2 | c.4117G>A (p.Gly1373Ser) c.4015G>A (p.Gly1339Ser) n.454G>A c.1980G>A c.589G>A (p.Gly197Ser) c.4036G>A (p.Gly1346Ser) c.4096G>A (p.Gly1366Ser) c.3748G>A (p.Gly1250Ser) c.3577G>A (p.Gly1193Ser) c.3463G>A (p.Gly1155Ser) c.3025G>A (p.Gly1009Ser) n.4293G>A | dbSNP |
3 | g.47000216G>C | CA2361146 | NBEAL2 | c.4117G>C (p.Gly1373Arg) c.4015G>C (p.Gly1339Arg) n.454G>C c.1980G>C c.589G>C (p.Gly197Arg) c.4036G>C (p.Gly1346Arg) c.4096G>C (p.Gly1366Arg) c.3748G>C (p.Gly1250Arg) c.3577G>C (p.Gly1193Arg) c.3463G>C (p.Gly1155Arg) c.3025G>C (p.Gly1009Arg) n.4293G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000216G= | CA1362363072 | NBEAL2 | c.4117G= (p.Gly1373=) c.4015G= (p.Gly1339=) n.454G= c.1980G= c.589G= (p.Gly197=) c.4036G= (p.Gly1346=) c.4096G= (p.Gly1366=) c.3748G= (p.Gly1250=) c.3577G= (p.Gly1193=) c.3463G= (p.Gly1155=) c.3025G= (p.Gly1009=) n.4293G= | |
3 | g.47000216G>T | CA352516944 | NBEAL2 | c.4117G>T (p.Gly1373Cys) c.4015G>T (p.Gly1339Cys) n.454G>T c.1980G>T c.589G>T (p.Gly197Cys) c.4036G>T (p.Gly1346Cys) c.4096G>T (p.Gly1366Cys) c.3748G>T (p.Gly1250Cys) c.3577G>T (p.Gly1193Cys) c.3463G>T (p.Gly1155Cys) c.3025G>T (p.Gly1009Cys) n.4293G>T | |
3 | g.47000217G>A | CA352516945 | NBEAL2 | c.4118G>A (p.Gly1373Asp) c.4016G>A (p.Gly1339Asp) n.455G>A c.1981G>A c.590G>A (p.Gly197Asp) c.4037G>A (p.Gly1346Asp) c.4097G>A (p.Gly1366Asp) c.3749G>A (p.Gly1250Asp) c.3578G>A (p.Gly1193Asp) c.3464G>A (p.Gly1155Asp) c.3026G>A (p.Gly1009Asp) n.4294G>A | |
3 | g.47000217G>C | CA352516946 | NBEAL2 | c.4118G>C (p.Gly1373Ala) c.4016G>C (p.Gly1339Ala) n.455G>C c.1981G>C c.590G>C (p.Gly197Ala) c.4037G>C (p.Gly1346Ala) c.4097G>C (p.Gly1366Ala) c.3749G>C (p.Gly1250Ala) c.3578G>C (p.Gly1193Ala) c.3464G>C (p.Gly1155Ala) c.3026G>C (p.Gly1009Ala) n.4294G>C | |
3 | g.47000217G>T | CA352516947 | NBEAL2 | c.4118G>T (p.Gly1373Val) c.4016G>T (p.Gly1339Val) n.455G>T c.1981G>T c.590G>T (p.Gly197Val) c.4037G>T (p.Gly1346Val) c.4097G>T (p.Gly1366Val) c.3749G>T (p.Gly1250Val) c.3578G>T (p.Gly1193Val) c.3464G>T (p.Gly1155Val) c.3026G>T (p.Gly1009Val) n.4294G>T | |
3 | g.47000218T>A | CA433598253 | NBEAL2 | c.4119T>A (p.Gly1373=) c.4017T>A (p.Gly1339=) n.456T>A c.1982T>A c.591T>A (p.Gly197=) c.4038T>A (p.Gly1346=) c.4098T>A (p.Gly1366=) c.3750T>A (p.Gly1250=) c.3579T>A (p.Gly1193=) c.3465T>A (p.Gly1155=) c.3027T>A (p.Gly1009=) n.4295T>A | |
3 | g.47000218T>C | CA433598255 | NBEAL2 | c.4119T>C (p.Gly1373=) c.4017T>C (p.Gly1339=) n.456T>C c.1982T>C c.591T>C (p.Gly197=) c.4038T>C (p.Gly1346=) c.4098T>C (p.Gly1366=) c.3750T>C (p.Gly1250=) c.3579T>C (p.Gly1193=) c.3465T>C (p.Gly1155=) c.3027T>C (p.Gly1009=) n.4295T>C | dbSNP |
3 | g.47000218T>G | CA433598257 | NBEAL2 | c.4119T>G (p.Gly1373=) c.4017T>G (p.Gly1339=) n.456T>G c.1982T>G c.591T>G (p.Gly197=) c.4038T>G (p.Gly1346=) c.4098T>G (p.Gly1366=) c.3750T>G (p.Gly1250=) c.3579T>G (p.Gly1193=) c.3465T>G (p.Gly1155=) c.3027T>G (p.Gly1009=) n.4295T>G | |
3 | g.47000218T= | CA1362363073 | NBEAL2 | c.4119T= (p.Gly1373=) c.4017T= (p.Gly1339=) n.456T= c.1982T= c.591T= (p.Gly197=) c.4038T= (p.Gly1346=) c.4098T= (p.Gly1366=) c.3750T= (p.Gly1250=) c.3579T= (p.Gly1193=) c.3465T= (p.Gly1155=) c.3027T= (p.Gly1009=) n.4295T= | |
3 | g.47000219G>A | CA352516948 | NBEAL2 | c.4120G>A (p.Gly1374Ser) c.4018G>A (p.Gly1340Ser) n.457G>A c.1983G>A c.592G>A (p.Gly198Ser) c.4039G>A (p.Gly1347Ser) c.4099G>A (p.Gly1367Ser) c.3751G>A (p.Gly1251Ser) c.3580G>A (p.Gly1194Ser) c.3466G>A (p.Gly1156Ser) c.3028G>A (p.Gly1010Ser) n.4296G>A | |
3 | g.47000219G>C | CA352516949 | NBEAL2 | c.4120G>C (p.Gly1374Arg) c.4018G>C (p.Gly1340Arg) n.457G>C c.1983G>C c.592G>C (p.Gly198Arg) c.4039G>C (p.Gly1347Arg) c.4099G>C (p.Gly1367Arg) c.3751G>C (p.Gly1251Arg) c.3580G>C (p.Gly1194Arg) c.3466G>C (p.Gly1156Arg) c.3028G>C (p.Gly1010Arg) n.4296G>C | |
3 | g.47000219G>T | CA352516950 | NBEAL2 | c.4120G>T (p.Gly1374Cys) c.4018G>T (p.Gly1340Cys) n.457G>T c.1983G>T c.592G>T (p.Gly198Cys) c.4039G>T (p.Gly1347Cys) c.4099G>T (p.Gly1367Cys) c.3751G>T (p.Gly1251Cys) c.3580G>T (p.Gly1194Cys) c.3466G>T (p.Gly1156Cys) c.3028G>T (p.Gly1010Cys) n.4296G>T | |
3 | g.47000222_47000224dup | CA433598259 | NBEAL2 | c.4123_4125dup (p.Gly1375_Ser1376insGly) c.4021_4023dup (p.Gly1341_Ser1342insGly) n.460_462dup c.1986_1988dup c.595_597dup (p.Gly199_Ser200insGly) c.4042_4044dup (p.Gly1348_Ser1349insGly) c.4102_4104dup (p.Gly1368_Ser1369insGly) c.3754_3756dup (p.Gly1252_Ser1253insGly) c.3583_3585dup (p.Gly1195_Ser1196insGly) c.3469_3471dup (p.Gly1157_Ser1158insGly) c.3031_3033dup (p.Gly1011_Ser1012insGly) n.4299_4301dup | |
3 | g.47000220G>A | CA10616153 | NBEAL2 | c.4121G>A (p.Gly1374Asp) c.4019G>A (p.Gly1340Asp) n.458G>A c.1984G>A c.593G>A (p.Gly198Asp) c.4040G>A (p.Gly1347Asp) c.4100G>A (p.Gly1367Asp) c.3752G>A (p.Gly1251Asp) c.3581G>A (p.Gly1194Asp) c.3467G>A (p.Gly1156Asp) c.3029G>A (p.Gly1010Asp) n.4297G>A | ClinVar dbSNP |
3 | g.47000220G>C | CA352516952 | NBEAL2 | c.4121G>C (p.Gly1374Ala) c.4019G>C (p.Gly1340Ala) n.458G>C c.1984G>C c.593G>C (p.Gly198Ala) c.4040G>C (p.Gly1347Ala) c.4100G>C (p.Gly1367Ala) c.3752G>C (p.Gly1251Ala) c.3581G>C (p.Gly1194Ala) c.3467G>C (p.Gly1156Ala) c.3029G>C (p.Gly1010Ala) n.4297G>C | |
3 | g.47000220G= | CA1362363074 | NBEAL2 | c.4121G= (p.Gly1374=) c.4019G= (p.Gly1340=) n.458G= c.1984G= c.593G= (p.Gly198=) c.4040G= (p.Gly1347=) c.4100G= (p.Gly1367=) c.3752G= (p.Gly1251=) c.3581G= (p.Gly1194=) c.3467G= (p.Gly1156=) c.3029G= (p.Gly1010=) n.4297G= | |
3 | g.47000220G>T | CA352516951 | NBEAL2 | c.4121G>T (p.Gly1374Val) c.4019G>T (p.Gly1340Val) n.458G>T c.1984G>T c.593G>T (p.Gly198Val) c.4040G>T (p.Gly1347Val) c.4100G>T (p.Gly1367Val) c.3752G>T (p.Gly1251Val) c.3581G>T (p.Gly1194Val) c.3467G>T (p.Gly1156Val) c.3029G>T (p.Gly1010Val) n.4297G>T | |
3 | g.47000221C>A | CA433598260 | NBEAL2 | c.4122C>A (p.Gly1374=) c.4020C>A (p.Gly1340=) n.459C>A c.1985C>A c.594C>A (p.Gly198=) c.4041C>A (p.Gly1347=) c.4101C>A (p.Gly1367=) c.3753C>A (p.Gly1251=) c.3582C>A (p.Gly1194=) c.3468C>A (p.Gly1156=) c.3030C>A (p.Gly1010=) n.4298C>A | |
3 | g.47000221C= | CA1362363075 | NBEAL2 | c.4122C= (p.Gly1374=) c.4020C= (p.Gly1340=) n.459C= c.1985C= c.594C= (p.Gly198=) c.4041C= (p.Gly1347=) c.4101C= (p.Gly1367=) c.3753C= (p.Gly1251=) c.3582C= (p.Gly1194=) c.3468C= (p.Gly1156=) c.3030C= (p.Gly1010=) n.4298C= | |
3 | g.47000221C>G | CA433598262 | NBEAL2 | c.4122C>G (p.Gly1374=) c.4020C>G (p.Gly1340=) n.459C>G c.1985C>G c.594C>G (p.Gly198=) c.4041C>G (p.Gly1347=) c.4101C>G (p.Gly1367=) c.3753C>G (p.Gly1251=) c.3582C>G (p.Gly1194=) c.3468C>G (p.Gly1156=) c.3030C>G (p.Gly1010=) n.4298C>G | |
3 | g.47000221C>T | CA2361147 | NBEAL2 | c.4122C>T (p.Gly1374=) c.4020C>T (p.Gly1340=) n.459C>T c.1985C>T c.594C>T (p.Gly198=) c.4041C>T (p.Gly1347=) c.4101C>T (p.Gly1367=) c.3753C>T (p.Gly1251=) c.3582C>T (p.Gly1194=) c.3468C>T (p.Gly1156=) c.3030C>T (p.Gly1010=) n.4298C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000222G>A | CA2361148 | NBEAL2 | c.4123G>A (p.Gly1375Ser) c.4021G>A (p.Gly1341Ser) n.460G>A c.1986G>A c.595G>A (p.Gly199Ser) c.4042G>A (p.Gly1348Ser) c.4102G>A (p.Gly1368Ser) c.3754G>A (p.Gly1252Ser) c.3583G>A (p.Gly1195Ser) c.3469G>A (p.Gly1157Ser) c.3031G>A (p.Gly1011Ser) n.4299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000222G>C | CA352516953 | NBEAL2 | c.4123G>C (p.Gly1375Arg) c.4021G>C (p.Gly1341Arg) n.460G>C c.1986G>C c.595G>C (p.Gly199Arg) c.4042G>C (p.Gly1348Arg) c.4102G>C (p.Gly1368Arg) c.3754G>C (p.Gly1252Arg) c.3583G>C (p.Gly1195Arg) c.3469G>C (p.Gly1157Arg) c.3031G>C (p.Gly1011Arg) n.4299G>C | |
3 | g.47000222G= | CA1362363076 | NBEAL2 | c.4123G= (p.Gly1375=) c.4021G= (p.Gly1341=) n.460G= c.1986G= c.595G= (p.Gly199=) c.4042G= (p.Gly1348=) c.4102G= (p.Gly1368=) c.3754G= (p.Gly1252=) c.3583G= (p.Gly1195=) c.3469G= (p.Gly1157=) c.3031G= (p.Gly1011=) n.4299G= | |
3 | g.47000222G>T | CA352516954 | NBEAL2 | c.4123G>T (p.Gly1375Cys) c.4021G>T (p.Gly1341Cys) n.460G>T c.1986G>T c.595G>T (p.Gly199Cys) c.4042G>T (p.Gly1348Cys) c.4102G>T (p.Gly1368Cys) c.3754G>T (p.Gly1252Cys) c.3583G>T (p.Gly1195Cys) c.3469G>T (p.Gly1157Cys) c.3031G>T (p.Gly1011Cys) n.4299G>T | |
3 | g.47000223G>A | CA352516955 | NBEAL2 | c.4124G>A (p.Gly1375Asp) c.4022G>A (p.Gly1341Asp) n.461G>A c.1987G>A c.596G>A (p.Gly199Asp) c.4043G>A (p.Gly1348Asp) c.4103G>A (p.Gly1368Asp) c.3755G>A (p.Gly1252Asp) c.3584G>A (p.Gly1195Asp) c.3470G>A (p.Gly1157Asp) c.3032G>A (p.Gly1011Asp) n.4300G>A | |
3 | g.47000223G>C | CA352516957 | NBEAL2 | c.4124G>C (p.Gly1375Ala) c.4022G>C (p.Gly1341Ala) n.461G>C c.1987G>C c.596G>C (p.Gly199Ala) c.4043G>C (p.Gly1348Ala) c.4103G>C (p.Gly1368Ala) c.3755G>C (p.Gly1252Ala) c.3584G>C (p.Gly1195Ala) c.3470G>C (p.Gly1157Ala) c.3032G>C (p.Gly1011Ala) n.4300G>C | |
3 | g.47000223G>T | CA352516956 | NBEAL2 | c.4124G>T (p.Gly1375Val) c.4022G>T (p.Gly1341Val) n.461G>T c.1987G>T c.596G>T (p.Gly199Val) c.4043G>T (p.Gly1348Val) c.4103G>T (p.Gly1368Val) c.3755G>T (p.Gly1252Val) c.3584G>T (p.Gly1195Val) c.3470G>T (p.Gly1157Val) c.3032G>T (p.Gly1011Val) n.4300G>T | |
3 | g.47000224C>A | CA433598265 | NBEAL2 | c.4125C>A (p.Gly1375=) c.4023C>A (p.Gly1341=) n.462C>A c.1988C>A c.597C>A (p.Gly199=) c.4044C>A (p.Gly1348=) c.4104C>A (p.Gly1368=) c.3756C>A (p.Gly1252=) c.3585C>A (p.Gly1195=) c.3471C>A (p.Gly1157=) c.3033C>A (p.Gly1011=) n.4301C>A | |
3 | g.47000224C= | CA1362363077 | NBEAL2 | c.4125C= (p.Gly1375=) c.4023C= (p.Gly1341=) n.462C= c.1988C= c.597C= (p.Gly199=) c.4044C= (p.Gly1348=) c.4104C= (p.Gly1368=) c.3756C= (p.Gly1252=) c.3585C= (p.Gly1195=) c.3471C= (p.Gly1157=) c.3033C= (p.Gly1011=) n.4301C= | |
3 | g.47000224C>G | CA433598266 | NBEAL2 | c.4125C>G (p.Gly1375=) c.4023C>G (p.Gly1341=) n.462C>G c.1988C>G c.597C>G (p.Gly199=) c.4044C>G (p.Gly1348=) c.4104C>G (p.Gly1368=) c.3756C>G (p.Gly1252=) c.3585C>G (p.Gly1195=) c.3471C>G (p.Gly1157=) c.3033C>G (p.Gly1011=) n.4301C>G | |
3 | g.47000224C>T | CA2361149 | NBEAL2 | c.4125C>T (p.Gly1375=) c.4023C>T (p.Gly1341=) n.462C>T c.1988C>T c.597C>T (p.Gly199=) c.4044C>T (p.Gly1348=) c.4104C>T (p.Gly1368=) c.3756C>T (p.Gly1252=) c.3585C>T (p.Gly1195=) c.3471C>T (p.Gly1157=) c.3033C>T (p.Gly1011=) n.4301C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000225A= | CA1362363078 | NBEAL2 | c.4126A= (p.Ser1376=) c.4024A= (p.Ser1342=) n.463A= c.1989A= c.598A= (p.Ser200=) c.4045A= (p.Ser1349=) c.4105A= (p.Ser1369=) c.3757A= (p.Ser1253=) c.3586A= (p.Ser1196=) c.3472A= (p.Ser1158=) c.3034A= (p.Ser1012=) n.4302A= | |
3 | g.47000225A>C | CA352516958 | NBEAL2 | c.4126A>C (p.Ser1376Arg) c.4024A>C (p.Ser1342Arg) n.463A>C c.1989A>C c.598A>C (p.Ser200Arg) c.4045A>C (p.Ser1349Arg) c.4105A>C (p.Ser1369Arg) c.3757A>C (p.Ser1253Arg) c.3586A>C (p.Ser1196Arg) c.3472A>C (p.Ser1158Arg) c.3034A>C (p.Ser1012Arg) n.4302A>C | |
3 | g.47000225A>G | CA2361150 | NBEAL2 | c.4126A>G (p.Ser1376Gly) c.4024A>G (p.Ser1342Gly) n.463A>G c.1989A>G c.598A>G (p.Ser200Gly) c.4045A>G (p.Ser1349Gly) c.4105A>G (p.Ser1369Gly) c.3757A>G (p.Ser1253Gly) c.3586A>G (p.Ser1196Gly) c.3472A>G (p.Ser1158Gly) c.3034A>G (p.Ser1012Gly) n.4302A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000225A>T | CA352516959 | NBEAL2 | c.4126A>T (p.Ser1376Cys) c.4024A>T (p.Ser1342Cys) n.463A>T c.1989A>T c.598A>T (p.Ser200Cys) c.4045A>T (p.Ser1349Cys) c.4105A>T (p.Ser1369Cys) c.3757A>T (p.Ser1253Cys) c.3586A>T (p.Ser1196Cys) c.3472A>T (p.Ser1158Cys) c.3034A>T (p.Ser1012Cys) n.4302A>T | |
3 | g.47000226G>A | CA352516960 | NBEAL2 | c.4127G>A (p.Ser1376Asn) c.4025G>A (p.Ser1342Asn) n.464G>A c.1990G>A c.599G>A (p.Ser200Asn) c.4046G>A (p.Ser1349Asn) c.4106G>A (p.Ser1369Asn) c.3758G>A (p.Ser1253Asn) c.3587G>A (p.Ser1196Asn) c.3473G>A (p.Ser1158Asn) c.3035G>A (p.Ser1012Asn) n.4303G>A | |
3 | g.47000226G>C | CA352516961 | NBEAL2 | c.4127G>C (p.Ser1376Thr) c.4025G>C (p.Ser1342Thr) n.464G>C c.1990G>C c.599G>C (p.Ser200Thr) c.4046G>C (p.Ser1349Thr) c.4106G>C (p.Ser1369Thr) c.3758G>C (p.Ser1253Thr) c.3587G>C (p.Ser1196Thr) c.3473G>C (p.Ser1158Thr) c.3035G>C (p.Ser1012Thr) n.4303G>C | |
3 | g.47000226G>T | CA352516962 | NBEAL2 | c.4127G>T (p.Ser1376Ile) c.4025G>T (p.Ser1342Ile) n.464G>T c.1990G>T c.599G>T (p.Ser200Ile) c.4046G>T (p.Ser1349Ile) c.4106G>T (p.Ser1369Ile) c.3758G>T (p.Ser1253Ile) c.3587G>T (p.Ser1196Ile) c.3473G>T (p.Ser1158Ile) c.3035G>T (p.Ser1012Ile) n.4303G>T | |
3 | g.47000227C>A | CA352516963 | NBEAL2 | c.4128C>A (p.Ser1376Arg) c.4026C>A (p.Ser1342Arg) n.465C>A c.1991C>A c.600C>A (p.Ser200Arg) c.4047C>A (p.Ser1349Arg) c.4107C>A (p.Ser1369Arg) c.3759C>A (p.Ser1253Arg) c.3588C>A (p.Ser1196Arg) c.3474C>A (p.Ser1158Arg) c.3036C>A (p.Ser1012Arg) n.4304C>A | |
3 | g.47000227C>G | CA352516964 | NBEAL2 | c.4128C>G (p.Ser1376Arg) c.4026C>G (p.Ser1342Arg) n.465C>G c.1991C>G c.600C>G (p.Ser200Arg) c.4047C>G (p.Ser1349Arg) c.4107C>G (p.Ser1369Arg) c.3759C>G (p.Ser1253Arg) c.3588C>G (p.Ser1196Arg) c.3474C>G (p.Ser1158Arg) c.3036C>G (p.Ser1012Arg) n.4304C>G | |
3 | g.47000227C>T | CA433598268 | NBEAL2 | c.4128C>T (p.Ser1376=) c.4026C>T (p.Ser1342=) n.465C>T c.1991C>T c.600C>T (p.Ser200=) c.4047C>T (p.Ser1349=) c.4107C>T (p.Ser1369=) c.3759C>T (p.Ser1253=) c.3588C>T (p.Ser1196=) c.3474C>T (p.Ser1158=) c.3036C>T (p.Ser1012=) n.4304C>T | |
3 | g.47000228A= | CA1362363079 | NBEAL2 | c.4129A= (p.Ser1377=) c.4027A= (p.Ser1343=) n.466A= c.1992A= c.601A= (p.Ser201=) c.4048A= (p.Ser1350=) c.4108A= (p.Ser1370=) c.3760A= (p.Ser1254=) c.3589A= (p.Ser1197=) c.3475A= (p.Ser1159=) c.3037A= (p.Ser1013=) n.4305A= | |
3 | g.47000228A>C | CA352516965 | NBEAL2 | c.4129A>C (p.Ser1377Arg) c.4027A>C (p.Ser1343Arg) n.466A>C c.1992A>C c.601A>C (p.Ser201Arg) c.4048A>C (p.Ser1350Arg) c.4108A>C (p.Ser1370Arg) c.3760A>C (p.Ser1254Arg) c.3589A>C (p.Ser1197Arg) c.3475A>C (p.Ser1159Arg) c.3037A>C (p.Ser1013Arg) n.4305A>C | |
3 | g.47000228A>G | CA352516966 | NBEAL2 | c.4129A>G (p.Ser1377Gly) c.4027A>G (p.Ser1343Gly) n.466A>G c.1992A>G c.601A>G (p.Ser201Gly) c.4048A>G (p.Ser1350Gly) c.4108A>G (p.Ser1370Gly) c.3760A>G (p.Ser1254Gly) c.3589A>G (p.Ser1197Gly) c.3475A>G (p.Ser1159Gly) c.3037A>G (p.Ser1013Gly) n.4305A>G | dbSNP |
3 | g.47000228A>T | CA352516967 | NBEAL2 | c.4129A>T (p.Ser1377Cys) c.4027A>T (p.Ser1343Cys) n.466A>T c.1992A>T c.601A>T (p.Ser201Cys) c.4048A>T (p.Ser1350Cys) c.4108A>T (p.Ser1370Cys) c.3760A>T (p.Ser1254Cys) c.3589A>T (p.Ser1197Cys) c.3475A>T (p.Ser1159Cys) c.3037A>T (p.Ser1013Cys) n.4305A>T | |
3 | g.47000229G>A | CA352516968 | NBEAL2 | c.4130G>A (p.Ser1377Asn) c.4028G>A (p.Ser1343Asn) n.467G>A c.1993G>A c.602G>A (p.Ser201Asn) c.4049G>A (p.Ser1350Asn) c.4109G>A (p.Ser1370Asn) c.3761G>A (p.Ser1254Asn) c.3590G>A (p.Ser1197Asn) c.3476G>A (p.Ser1159Asn) c.3038G>A (p.Ser1013Asn) n.4306G>A | |
3 | g.47000229G>C | CA352516969 | NBEAL2 | c.4130G>C (p.Ser1377Thr) c.4028G>C (p.Ser1343Thr) n.467G>C c.1993G>C c.602G>C (p.Ser201Thr) c.4049G>C (p.Ser1350Thr) c.4109G>C (p.Ser1370Thr) c.3761G>C (p.Ser1254Thr) c.3590G>C (p.Ser1197Thr) c.3476G>C (p.Ser1159Thr) c.3038G>C (p.Ser1013Thr) n.4306G>C | |
3 | g.47000229G>T | CA352516970 | NBEAL2 | c.4130G>T (p.Ser1377Ile) c.4028G>T (p.Ser1343Ile) n.467G>T c.1993G>T c.602G>T (p.Ser201Ile) c.4049G>T (p.Ser1350Ile) c.4109G>T (p.Ser1370Ile) c.3761G>T (p.Ser1254Ile) c.3590G>T (p.Ser1197Ile) c.3476G>T (p.Ser1159Ile) c.3038G>T (p.Ser1013Ile) n.4306G>T | gnomAD v4 |
3 | g.47000230T>A | CA352516971 | NBEAL2 | c.4131T>A (p.Ser1377Arg) c.4029T>A (p.Ser1343Arg) n.468T>A c.1994T>A c.603T>A (p.Ser201Arg) c.4050T>A (p.Ser1350Arg) c.4110T>A (p.Ser1370Arg) c.3762T>A (p.Ser1254Arg) c.3591T>A (p.Ser1197Arg) c.3477T>A (p.Ser1159Arg) c.3039T>A (p.Ser1013Arg) n.4307T>A | |
3 | g.47000230T>C | CA433598272 | NBEAL2 | c.4131T>C (p.Ser1377=) c.4029T>C (p.Ser1343=) n.468T>C c.1994T>C c.603T>C (p.Ser201=) c.4050T>C (p.Ser1350=) c.4110T>C (p.Ser1370=) c.3762T>C (p.Ser1254=) c.3591T>C (p.Ser1197=) c.3477T>C (p.Ser1159=) c.3039T>C (p.Ser1013=) n.4307T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000230T>G | CA352516972 | NBEAL2 | c.4131T>G (p.Ser1377Arg) c.4029T>G (p.Ser1343Arg) n.468T>G c.1994T>G c.603T>G (p.Ser201Arg) c.4050T>G (p.Ser1350Arg) c.4110T>G (p.Ser1370Arg) c.3762T>G (p.Ser1254Arg) c.3591T>G (p.Ser1197Arg) c.3477T>G (p.Ser1159Arg) c.3039T>G (p.Ser1013Arg) n.4307T>G | dbSNP |
3 | g.47000230T= | CA1362363080 | NBEAL2 | c.4131T= (p.Ser1377=) c.4029T= (p.Ser1343=) n.468T= c.1994T= c.603T= (p.Ser201=) c.4050T= (p.Ser1350=) c.4110T= (p.Ser1370=) c.3762T= (p.Ser1254=) c.3591T= (p.Ser1197=) c.3477T= (p.Ser1159=) c.3039T= (p.Ser1013=) n.4307T= | |
3 | g.47000231G>A | CA352516973 | NBEAL2 | c.4132G>A (p.Gly1378Arg) c.4030G>A (p.Gly1344Arg) n.469G>A c.1995G>A c.604G>A (p.Gly202Arg) c.4051G>A (p.Gly1351Arg) c.4111G>A (p.Gly1371Arg) c.3763G>A (p.Gly1255Arg) c.3592G>A (p.Gly1198Arg) c.3478G>A (p.Gly1160Arg) c.3040G>A (p.Gly1014Arg) n.4308G>A | |
3 | g.47000231G>C | CA352516974 | NBEAL2 | c.4132G>C (p.Gly1378Arg) c.4030G>C (p.Gly1344Arg) n.469G>C c.1995G>C c.604G>C (p.Gly202Arg) c.4051G>C (p.Gly1351Arg) c.4111G>C (p.Gly1371Arg) c.3763G>C (p.Gly1255Arg) c.3592G>C (p.Gly1198Arg) c.3478G>C (p.Gly1160Arg) c.3040G>C (p.Gly1014Arg) n.4308G>C | |
3 | g.47000231G>T | CA352516975 | NBEAL2 | c.4132G>T (p.Gly1378Trp) c.4030G>T (p.Gly1344Trp) n.469G>T c.1995G>T c.604G>T (p.Gly202Trp) c.4051G>T (p.Gly1351Trp) c.4111G>T (p.Gly1371Trp) c.3763G>T (p.Gly1255Trp) c.3592G>T (p.Gly1198Trp) c.3478G>T (p.Gly1160Trp) c.3040G>T (p.Gly1014Trp) n.4308G>T | |
3 | g.47000232G>A | CA73817818 | NBEAL2 | c.4133G>A (p.Gly1378Glu) c.4031G>A (p.Gly1344Glu) n.470G>A c.1996G>A c.605G>A (p.Gly202Glu) c.4052G>A (p.Gly1351Glu) c.4112G>A (p.Gly1371Glu) c.3764G>A (p.Gly1255Glu) c.3593G>A (p.Gly1198Glu) c.3479G>A (p.Gly1160Glu) c.3041G>A (p.Gly1014Glu) n.4309G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000232G>C | CA352516976 | NBEAL2 | c.4133G>C (p.Gly1378Ala) c.4031G>C (p.Gly1344Ala) n.470G>C c.1996G>C c.605G>C (p.Gly202Ala) c.4052G>C (p.Gly1351Ala) c.4112G>C (p.Gly1371Ala) c.3764G>C (p.Gly1255Ala) c.3593G>C (p.Gly1198Ala) c.3479G>C (p.Gly1160Ala) c.3041G>C (p.Gly1014Ala) n.4309G>C | |
3 | g.47000232G= | CA1362363081 | NBEAL2 | c.4133G= (p.Gly1378=) c.4031G= (p.Gly1344=) n.470G= c.1996G= c.605G= (p.Gly202=) c.4052G= (p.Gly1351=) c.4112G= (p.Gly1371=) c.3764G= (p.Gly1255=) c.3593G= (p.Gly1198=) c.3479G= (p.Gly1160=) c.3041G= (p.Gly1014=) n.4309G= | |
3 | g.47000232G>T | CA352516977 | NBEAL2 | c.4133G>T (p.Gly1378Val) c.4031G>T (p.Gly1344Val) n.470G>T c.1996G>T c.605G>T (p.Gly202Val) c.4052G>T (p.Gly1351Val) c.4112G>T (p.Gly1371Val) c.3764G>T (p.Gly1255Val) c.3593G>T (p.Gly1198Val) c.3479G>T (p.Gly1160Val) c.3041G>T (p.Gly1014Val) n.4309G>T | |
3 | g.47000233G>A | CA433598276 | NBEAL2 | c.4134G>A (p.Gly1378=) c.4032G>A (p.Gly1344=) n.471G>A c.1997G>A c.606G>A (p.Gly202=) c.4053G>A (p.Gly1351=) c.4113G>A (p.Gly1371=) c.3765G>A (p.Gly1255=) c.3594G>A (p.Gly1198=) c.3480G>A (p.Gly1160=) c.3042G>A (p.Gly1014=) n.4310G>A | |
3 | g.47000233G>C | CA433598277 | NBEAL2 | c.4134G>C (p.Gly1378=) c.4032G>C (p.Gly1344=) n.471G>C c.1997G>C c.606G>C (p.Gly202=) c.4053G>C (p.Gly1351=) c.4113G>C (p.Gly1371=) c.3765G>C (p.Gly1255=) c.3594G>C (p.Gly1198=) c.3480G>C (p.Gly1160=) c.3042G>C (p.Gly1014=) n.4310G>C | |
3 | g.47000233G= | CA1362363082 | NBEAL2 | c.4134G= (p.Gly1378=) c.4032G= (p.Gly1344=) n.471G= c.1997G= c.606G= (p.Gly202=) c.4053G= (p.Gly1351=) c.4113G= (p.Gly1371=) c.3765G= (p.Gly1255=) c.3594G= (p.Gly1198=) c.3480G= (p.Gly1160=) c.3042G= (p.Gly1014=) n.4310G= | |
3 | g.47000233G>T | CA73817824 | NBEAL2 | c.4134G>T (p.Gly1378=) c.4032G>T (p.Gly1344=) n.471G>T c.1997G>T c.606G>T (p.Gly202=) c.4053G>T (p.Gly1351=) c.4113G>T (p.Gly1371=) c.3765G>T (p.Gly1255=) c.3594G>T (p.Gly1198=) c.3480G>T (p.Gly1160=) c.3042G>T (p.Gly1014=) n.4310G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000234A= | CA1362363083 | NBEAL2 | c.4135A= (p.Thr1379=) c.4033A= (p.Thr1345=) n.472A= c.1998A= c.607A= (p.Thr203=) c.4054A= (p.Thr1352=) c.4114A= (p.Thr1372=) c.3766A= (p.Thr1256=) c.3595A= (p.Thr1199=) c.3481A= (p.Thr1161=) c.3043A= (p.Thr1015=) n.4311A= | |
3 | g.47000234A>C | CA352516978 | NBEAL2 | c.4135A>C (p.Thr1379Pro) c.4033A>C (p.Thr1345Pro) n.472A>C c.1998A>C c.607A>C (p.Thr203Pro) c.4054A>C (p.Thr1352Pro) c.4114A>C (p.Thr1372Pro) c.3766A>C (p.Thr1256Pro) c.3595A>C (p.Thr1199Pro) c.3481A>C (p.Thr1161Pro) c.3043A>C (p.Thr1015Pro) n.4311A>C | |
3 | g.47000234A>G | CA352516979 | NBEAL2 | c.4135A>G (p.Thr1379Ala) c.4033A>G (p.Thr1345Ala) n.472A>G c.1998A>G c.607A>G (p.Thr203Ala) c.4054A>G (p.Thr1352Ala) c.4114A>G (p.Thr1372Ala) c.3766A>G (p.Thr1256Ala) c.3595A>G (p.Thr1199Ala) c.3481A>G (p.Thr1161Ala) c.3043A>G (p.Thr1015Ala) n.4311A>G | dbSNP |
3 | g.47000234A>T | CA352516980 | NBEAL2 | c.4135A>T (p.Thr1379Ser) c.4033A>T (p.Thr1345Ser) n.472A>T c.1998A>T c.607A>T (p.Thr203Ser) c.4054A>T (p.Thr1352Ser) c.4114A>T (p.Thr1372Ser) c.3766A>T (p.Thr1256Ser) c.3595A>T (p.Thr1199Ser) c.3481A>T (p.Thr1161Ser) c.3043A>T (p.Thr1015Ser) n.4311A>T | |
3 | g.47000235C>A | CA352516981 | NBEAL2 | c.4136C>A (p.Thr1379Asn) c.4034C>A (p.Thr1345Asn) n.473C>A c.1999C>A c.608C>A (p.Thr203Asn) c.4055C>A (p.Thr1352Asn) c.4115C>A (p.Thr1372Asn) c.3767C>A (p.Thr1256Asn) c.3596C>A (p.Thr1199Asn) c.3482C>A (p.Thr1161Asn) c.3044C>A (p.Thr1015Asn) n.4312C>A | COSMIC COSMIC |
3 | g.47000235C>G | CA352516982 | NBEAL2 | c.4136C>G (p.Thr1379Ser) c.4034C>G (p.Thr1345Ser) n.473C>G c.1999C>G c.608C>G (p.Thr203Ser) c.4055C>G (p.Thr1352Ser) c.4115C>G (p.Thr1372Ser) c.3767C>G (p.Thr1256Ser) c.3596C>G (p.Thr1199Ser) c.3482C>G (p.Thr1161Ser) c.3044C>G (p.Thr1015Ser) n.4312C>G | |
3 | g.47000235C>T | CA352516983 | NBEAL2 | c.4136C>T (p.Thr1379Ile) c.4034C>T (p.Thr1345Ile) n.473C>T c.1999C>T c.608C>T (p.Thr203Ile) c.4055C>T (p.Thr1352Ile) c.4115C>T (p.Thr1372Ile) c.3767C>T (p.Thr1256Ile) c.3596C>T (p.Thr1199Ile) c.3482C>T (p.Thr1161Ile) c.3044C>T (p.Thr1015Ile) n.4312C>T | |
3 | g.47000236T>A | CA433598280 | NBEAL2 | c.4137T>A (p.Thr1379=) c.4035T>A (p.Thr1345=) n.474T>A c.2000T>A c.609T>A (p.Thr203=) c.4056T>A (p.Thr1352=) c.4116T>A (p.Thr1372=) c.3768T>A (p.Thr1256=) c.3597T>A (p.Thr1199=) c.3483T>A (p.Thr1161=) c.3045T>A (p.Thr1015=) n.4313T>A | |
3 | g.47000236T>C | CA433598279 | NBEAL2 | c.4137T>C (p.Thr1379=) c.4035T>C (p.Thr1345=) n.474T>C c.2000T>C c.609T>C (p.Thr203=) c.4056T>C (p.Thr1352=) c.4116T>C (p.Thr1372=) c.3768T>C (p.Thr1256=) c.3597T>C (p.Thr1199=) c.3483T>C (p.Thr1161=) c.3045T>C (p.Thr1015=) n.4313T>C | |
3 | g.47000236T>G | CA433598278 | NBEAL2 | c.4137T>G (p.Thr1379=) c.4035T>G (p.Thr1345=) n.474T>G c.2000T>G c.609T>G (p.Thr203=) c.4056T>G (p.Thr1352=) c.4116T>G (p.Thr1372=) c.3768T>G (p.Thr1256=) c.3597T>G (p.Thr1199=) c.3483T>G (p.Thr1161=) c.3045T>G (p.Thr1015=) n.4313T>G | |
3 | g.47000237C>A | CA352516984 | NBEAL2 | c.4138C>A (p.Leu1380Ile) c.4036C>A (p.Leu1346Ile) n.475C>A c.2001C>A c.610C>A (p.Leu204Ile) c.4057C>A (p.Leu1353Ile) c.4117C>A (p.Leu1373Ile) c.3769C>A (p.Leu1257Ile) c.3598C>A (p.Leu1200Ile) c.3484C>A (p.Leu1162Ile) c.3046C>A (p.Leu1016Ile) n.4314C>A | |
3 | g.47000237C= | CA1362363084 | NBEAL2 | c.4138C= (p.Leu1380=) c.4036C= (p.Leu1346=) n.475C= c.2001C= c.610C= (p.Leu204=) c.4057C= (p.Leu1353=) c.4117C= (p.Leu1373=) c.3769C= (p.Leu1257=) c.3598C= (p.Leu1200=) c.3484C= (p.Leu1162=) c.3046C= (p.Leu1016=) n.4314C= | |
3 | g.47000237C>G | CA2361152 | NBEAL2 | c.4138C>G (p.Leu1380Val) c.4036C>G (p.Leu1346Val) n.475C>G c.2001C>G c.610C>G (p.Leu204Val) c.4057C>G (p.Leu1353Val) c.4117C>G (p.Leu1373Val) c.3769C>G (p.Leu1257Val) c.3598C>G (p.Leu1200Val) c.3484C>G (p.Leu1162Val) c.3046C>G (p.Leu1016Val) n.4314C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.47000237C>T | CA2361151 | NBEAL2 | c.4138C>T (p.Leu1380Phe) c.4036C>T (p.Leu1346Phe) n.475C>T c.2001C>T c.610C>T (p.Leu204Phe) c.4057C>T (p.Leu1353Phe) c.4117C>T (p.Leu1373Phe) c.3769C>T (p.Leu1257Phe) c.3598C>T (p.Leu1200Phe) c.3484C>T (p.Leu1162Phe) c.3046C>T (p.Leu1016Phe) n.4314C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000238T>A | CA352516985 | NBEAL2 | c.4139T>A (p.Leu1380His) c.4037T>A (p.Leu1346His) n.476T>A c.2002T>A c.611T>A (p.Leu204His) c.4058T>A (p.Leu1353His) c.4118T>A (p.Leu1373His) c.3770T>A (p.Leu1257His) c.3599T>A (p.Leu1200His) c.3485T>A (p.Leu1162His) c.3047T>A (p.Leu1016His) n.4315T>A | |
3 | g.47000238T>C | CA352516986 | NBEAL2 | c.4139T>C (p.Leu1380Pro) c.4037T>C (p.Leu1346Pro) n.476T>C c.2002T>C c.611T>C (p.Leu204Pro) c.4058T>C (p.Leu1353Pro) c.4118T>C (p.Leu1373Pro) c.3770T>C (p.Leu1257Pro) c.3599T>C (p.Leu1200Pro) c.3485T>C (p.Leu1162Pro) c.3047T>C (p.Leu1016Pro) n.4315T>C | gnomAD v4 |
3 | g.47000238T>G | CA352516987 | NBEAL2 | c.4139T>G (p.Leu1380Arg) c.4037T>G (p.Leu1346Arg) n.476T>G c.2002T>G c.611T>G (p.Leu204Arg) c.4058T>G (p.Leu1353Arg) c.4118T>G (p.Leu1373Arg) c.3770T>G (p.Leu1257Arg) c.3599T>G (p.Leu1200Arg) c.3485T>G (p.Leu1162Arg) c.3047T>G (p.Leu1016Arg) n.4315T>G | |
3 | g.47000239T>A | CA433598286 | NBEAL2 | c.4140T>A (p.Leu1380=) c.4038T>A (p.Leu1346=) n.477T>A c.2003T>A c.612T>A (p.Leu204=) c.4059T>A (p.Leu1353=) c.4119T>A (p.Leu1373=) c.3771T>A (p.Leu1257=) c.3600T>A (p.Leu1200=) c.3486T>A (p.Leu1162=) c.3048T>A (p.Leu1016=) n.4316T>A | |
3 | g.47000239T>C | CA433598285 | NBEAL2 | c.4140T>C (p.Leu1380=) c.4038T>C (p.Leu1346=) n.477T>C c.2003T>C c.612T>C (p.Leu204=) c.4059T>C (p.Leu1353=) c.4119T>C (p.Leu1373=) c.3771T>C (p.Leu1257=) c.3600T>C (p.Leu1200=) c.3486T>C (p.Leu1162=) c.3048T>C (p.Leu1016=) n.4316T>C | |
3 | g.47000239T>G | CA433598284 | NBEAL2 | c.4140T>G (p.Leu1380=) c.4038T>G (p.Leu1346=) n.477T>G c.2003T>G c.612T>G (p.Leu204=) c.4059T>G (p.Leu1353=) c.4119T>G (p.Leu1373=) c.3771T>G (p.Leu1257=) c.3600T>G (p.Leu1200=) c.3486T>G (p.Leu1162=) c.3048T>G (p.Leu1016=) n.4316T>G | |
3 | g.47000240A= | CA1362363085 | NBEAL2 | c.4141A= (p.Thr1381=) c.4039A= (p.Thr1347=) n.478A= c.2004A= c.613A= (p.Thr205=) c.4060A= (p.Thr1354=) c.4120A= (p.Thr1374=) c.3772A= (p.Thr1258=) c.3601A= (p.Thr1201=) c.3487A= (p.Thr1163=) c.3049A= (p.Thr1017=) n.4317A= | |
3 | g.47000240A>C | CA73817829 | NBEAL2 | c.4141A>C (p.Thr1381Pro) c.4039A>C (p.Thr1347Pro) n.478A>C c.2004A>C c.613A>C (p.Thr205Pro) c.4060A>C (p.Thr1354Pro) c.4120A>C (p.Thr1374Pro) c.3772A>C (p.Thr1258Pro) c.3601A>C (p.Thr1201Pro) c.3487A>C (p.Thr1163Pro) c.3049A>C (p.Thr1017Pro) n.4317A>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000240A>G | CA352516988 | NBEAL2 | c.4141A>G (p.Thr1381Ala) c.4039A>G (p.Thr1347Ala) n.478A>G c.2004A>G c.613A>G (p.Thr205Ala) c.4060A>G (p.Thr1354Ala) c.4120A>G (p.Thr1374Ala) c.3772A>G (p.Thr1258Ala) c.3601A>G (p.Thr1201Ala) c.3487A>G (p.Thr1163Ala) c.3049A>G (p.Thr1017Ala) n.4317A>G | |
3 | g.47000240A>T | CA352516989 | NBEAL2 | c.4141A>T (p.Thr1381Ser) c.4039A>T (p.Thr1347Ser) n.478A>T c.2004A>T c.613A>T (p.Thr205Ser) c.4060A>T (p.Thr1354Ser) c.4120A>T (p.Thr1374Ser) c.3772A>T (p.Thr1258Ser) c.3601A>T (p.Thr1201Ser) c.3487A>T (p.Thr1163Ser) c.3049A>T (p.Thr1017Ser) n.4317A>T | |
3 | g.47000241C>A | CA352516990 | NBEAL2 | c.4142C>A (p.Thr1381Asn) c.4040C>A (p.Thr1347Asn) n.479C>A c.2005C>A c.614C>A (p.Thr205Asn) c.4061C>A (p.Thr1354Asn) c.4121C>A (p.Thr1374Asn) c.3773C>A (p.Thr1258Asn) c.3602C>A (p.Thr1201Asn) c.3488C>A (p.Thr1163Asn) c.3050C>A (p.Thr1017Asn) n.4318C>A | gnomAD v4 |
3 | g.47000241C>G | CA352516991 | NBEAL2 | c.4142C>G (p.Thr1381Ser) c.4040C>G (p.Thr1347Ser) n.479C>G c.2005C>G c.614C>G (p.Thr205Ser) c.4061C>G (p.Thr1354Ser) c.4121C>G (p.Thr1374Ser) c.3773C>G (p.Thr1258Ser) c.3602C>G (p.Thr1201Ser) c.3488C>G (p.Thr1163Ser) c.3050C>G (p.Thr1017Ser) n.4318C>G | gnomAD v4 |
3 | g.47000241C>T | CA352516992 | NBEAL2 | c.4142C>T (p.Thr1381Ile) c.4040C>T (p.Thr1347Ile) n.479C>T c.2005C>T c.614C>T (p.Thr205Ile) c.4061C>T (p.Thr1354Ile) c.4121C>T (p.Thr1374Ile) c.3773C>T (p.Thr1258Ile) c.3602C>T (p.Thr1201Ile) c.3488C>T (p.Thr1163Ile) c.3050C>T (p.Thr1017Ile) n.4318C>T | gnomAD v4 |
3 | g.47000242T>A | CA433598288 | NBEAL2 | c.4143T>A (p.Thr1381=) c.4041T>A (p.Thr1347=) n.480T>A c.2006T>A c.615T>A (p.Thr205=) c.4062T>A (p.Thr1354=) c.4122T>A (p.Thr1374=) c.3774T>A (p.Thr1258=) c.3603T>A (p.Thr1201=) c.3489T>A (p.Thr1163=) c.3051T>A (p.Thr1017=) n.4319T>A | |
3 | g.47000242T>C | CA433598291 | NBEAL2 | c.4143T>C (p.Thr1381=) c.4041T>C (p.Thr1347=) n.480T>C c.2006T>C c.615T>C (p.Thr205=) c.4062T>C (p.Thr1354=) c.4122T>C (p.Thr1374=) c.3774T>C (p.Thr1258=) c.3603T>C (p.Thr1201=) c.3489T>C (p.Thr1163=) c.3051T>C (p.Thr1017=) n.4319T>C | |
3 | g.47000242T>G | CA433598290 | NBEAL2 | c.4143T>G (p.Thr1381=) c.4041T>G (p.Thr1347=) n.480T>G c.2006T>G c.615T>G (p.Thr205=) c.4062T>G (p.Thr1354=) c.4122T>G (p.Thr1374=) c.3774T>G (p.Thr1258=) c.3603T>G (p.Thr1201=) c.3489T>G (p.Thr1163=) c.3051T>G (p.Thr1017=) n.4319T>G | dbSNP gnomAD v2 |
3 | g.47000242T= | CA1362363086 | NBEAL2 | c.4143T= (p.Thr1381=) c.4041T= (p.Thr1347=) n.480T= c.2006T= c.615T= (p.Thr205=) c.4062T= (p.Thr1354=) c.4122T= (p.Thr1374=) c.3774T= (p.Thr1258=) c.3603T= (p.Thr1201=) c.3489T= (p.Thr1163=) c.3051T= (p.Thr1017=) n.4319T= | |
3 | g.47000243C>A | CA352516993 | NBEAL2 | c.4144C>A (p.Pro1382Thr) c.4042C>A (p.Pro1348Thr) n.481C>A c.2007C>A c.616C>A (p.Pro206Thr) c.4063C>A (p.Pro1355Thr) c.4123C>A (p.Pro1375Thr) c.3775C>A (p.Pro1259Thr) c.3604C>A (p.Pro1202Thr) c.3490C>A (p.Pro1164Thr) c.3052C>A (p.Pro1018Thr) n.4320C>A | |
3 | g.47000243C>G | CA352516994 | NBEAL2 | c.4144C>G (p.Pro1382Ala) c.4042C>G (p.Pro1348Ala) n.481C>G c.2007C>G c.616C>G (p.Pro206Ala) c.4063C>G (p.Pro1355Ala) c.4123C>G (p.Pro1375Ala) c.3775C>G (p.Pro1259Ala) c.3604C>G (p.Pro1202Ala) c.3490C>G (p.Pro1164Ala) c.3052C>G (p.Pro1018Ala) n.4320C>G | |
3 | g.47000243C>T | CA352516995 | NBEAL2 | c.4144C>T (p.Pro1382Ser) c.4042C>T (p.Pro1348Ser) n.481C>T c.2007C>T c.616C>T (p.Pro206Ser) c.4063C>T (p.Pro1355Ser) c.4123C>T (p.Pro1375Ser) c.3775C>T (p.Pro1259Ser) c.3604C>T (p.Pro1202Ser) c.3490C>T (p.Pro1164Ser) c.3052C>T (p.Pro1018Ser) n.4320C>T | COSMIC COSMIC |
3 | g.47000244C>A | CA352516998 | NBEAL2 | c.4145C>A (p.Pro1382Gln) c.4043C>A (p.Pro1348Gln) n.482C>A c.2008C>A c.617C>A (p.Pro206Gln) c.4064C>A (p.Pro1355Gln) c.4124C>A (p.Pro1375Gln) c.3776C>A (p.Pro1259Gln) c.3605C>A (p.Pro1202Gln) c.3491C>A (p.Pro1164Gln) c.3053C>A (p.Pro1018Gln) n.4321C>A | |
3 | g.47000244C= | CA1362363087 | NBEAL2 | c.4145C= (p.Pro1382=) c.4043C= (p.Pro1348=) n.482C= c.2008C= c.617C= (p.Pro206=) c.4064C= (p.Pro1355=) c.4124C= (p.Pro1375=) c.3776C= (p.Pro1259=) c.3605C= (p.Pro1202=) c.3491C= (p.Pro1164=) c.3053C= (p.Pro1018=) n.4321C= | |
3 | g.47000244C>G | CA352516996 | NBEAL2 | c.4145C>G (p.Pro1382Arg) c.4043C>G (p.Pro1348Arg) n.482C>G c.2008C>G c.617C>G (p.Pro206Arg) c.4064C>G (p.Pro1355Arg) c.4124C>G (p.Pro1375Arg) c.3776C>G (p.Pro1259Arg) c.3605C>G (p.Pro1202Arg) c.3491C>G (p.Pro1164Arg) c.3053C>G (p.Pro1018Arg) n.4321C>G | |
3 | g.47000244C>T | CA352516997 | NBEAL2 | c.4145C>T (p.Pro1382Leu) c.4043C>T (p.Pro1348Leu) n.482C>T c.2008C>T c.617C>T (p.Pro206Leu) c.4064C>T (p.Pro1355Leu) c.4124C>T (p.Pro1375Leu) c.3776C>T (p.Pro1259Leu) c.3605C>T (p.Pro1202Leu) c.3491C>T (p.Pro1164Leu) c.3053C>T (p.Pro1018Leu) n.4321C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000245A>C | CA433598292 | NBEAL2 | c.4146A>C (p.Pro1382=) c.4044A>C (p.Pro1348=) c.2009A>C c.618A>C (p.Pro206=) c.4065A>C (p.Pro1355=) c.4125A>C (p.Pro1375=) c.3777A>C (p.Pro1259=) c.3606A>C (p.Pro1202=) c.3492A>C (p.Pro1164=) c.3054A>C (p.Pro1018=) n.4322A>C | |
3 | g.47000245A>G | CA433598293 | NBEAL2 | c.4146A>G (p.Pro1382=) c.4044A>G (p.Pro1348=) c.2009A>G c.618A>G (p.Pro206=) c.4065A>G (p.Pro1355=) c.4125A>G (p.Pro1375=) c.3777A>G (p.Pro1259=) c.3606A>G (p.Pro1202=) c.3492A>G (p.Pro1164=) c.3054A>G (p.Pro1018=) n.4322A>G | |
3 | g.47000245A>T | CA433598294 | NBEAL2 | c.4146A>T (p.Pro1382=) c.4044A>T (p.Pro1348=) c.2009A>T c.618A>T (p.Pro206=) c.4065A>T (p.Pro1355=) c.4125A>T (p.Pro1375=) c.3777A>T (p.Pro1259=) c.3606A>T (p.Pro1202=) c.3492A>T (p.Pro1164=) c.3054A>T (p.Pro1018=) n.4322A>T | |
3 | g.47000246G>A | CA352516999 | NBEAL2 | c.4147G>A (p.Ala1383Thr) c.4045G>A (p.Ala1349Thr) c.2010G>A c.619G>A (p.Ala207Thr) c.4066G>A (p.Ala1356Thr) c.4126G>A (p.Ala1376Thr) c.3778G>A (p.Ala1260Thr) c.3607G>A (p.Ala1203Thr) c.3493G>A (p.Ala1165Thr) c.3055G>A (p.Ala1019Thr) n.4323G>A | |
3 | g.47000246G>C | CA352517000 | NBEAL2 | c.4147G>C (p.Ala1383Pro) c.4045G>C (p.Ala1349Pro) c.2010G>C c.619G>C (p.Ala207Pro) c.4066G>C (p.Ala1356Pro) c.4126G>C (p.Ala1376Pro) c.3778G>C (p.Ala1260Pro) c.3607G>C (p.Ala1203Pro) c.3493G>C (p.Ala1165Pro) c.3055G>C (p.Ala1019Pro) n.4323G>C | |
3 | g.47000246G>T | CA352517001 | NBEAL2 | c.4147G>T (p.Ala1383Ser) c.4045G>T (p.Ala1349Ser) c.2010G>T c.619G>T (p.Ala207Ser) c.4066G>T (p.Ala1356Ser) c.4126G>T (p.Ala1376Ser) c.3778G>T (p.Ala1260Ser) c.3607G>T (p.Ala1203Ser) c.3493G>T (p.Ala1165Ser) c.3055G>T (p.Ala1019Ser) n.4323G>T | |
3 | g.47000247C>A | CA352517002 | NBEAL2 | c.4148C>A (p.Ala1383Asp) c.4046C>A (p.Ala1349Asp) c.2011C>A c.620C>A (p.Ala207Asp) c.4067C>A (p.Ala1356Asp) c.4127C>A (p.Ala1376Asp) c.3779C>A (p.Ala1260Asp) c.3608C>A (p.Ala1203Asp) c.3494C>A (p.Ala1165Asp) c.3056C>A (p.Ala1019Asp) n.4324C>A | |
3 | g.47000247C>G | CA352517003 | NBEAL2 | c.4148C>G (p.Ala1383Gly) c.4046C>G (p.Ala1349Gly) c.2011C>G c.620C>G (p.Ala207Gly) c.4067C>G (p.Ala1356Gly) c.4127C>G (p.Ala1376Gly) c.3779C>G (p.Ala1260Gly) c.3608C>G (p.Ala1203Gly) c.3494C>G (p.Ala1165Gly) c.3056C>G (p.Ala1019Gly) n.4324C>G | |
3 | g.47000247C>T | CA352517004 | NBEAL2 | c.4148C>T (p.Ala1383Val) c.4046C>T (p.Ala1349Val) c.2011C>T c.620C>T (p.Ala207Val) c.4067C>T (p.Ala1356Val) c.4127C>T (p.Ala1376Val) c.3779C>T (p.Ala1260Val) c.3608C>T (p.Ala1203Val) c.3494C>T (p.Ala1165Val) c.3056C>T (p.Ala1019Val) n.4324C>T | |
3 | g.47000247_47000248insA | CA2665493247 | NBEAL2 | c.4148_4149insA (p.Ser1384GlnfsTer?) c.4046_4047insA (p.Ser1350GlnfsTer?) c.2011_2012insA c.620_621insA (p.Ser208GlnfsTer?) c.4067_4068insA (p.Ser1357GlnfsTer?) c.4127_4128insA (p.Ser1377GlnfsTer?) c.3779_3780insA (p.Ser1261GlnfsTer?) c.3608_3609insA (p.Ser1204GlnfsTer?) c.3494_3495insA (p.Ser1166GlnfsTer?) c.3056_3057insA (p.Ser1020GlnfsTer?) n.4324_4325insA | gnomAD v4 |
3 | g.47000248C>A | CA433598295 | NBEAL2 | c.4149C>A (p.Ala1383=) c.4047C>A (p.Ala1349=) c.2012C>A c.621C>A (p.Ala207=) c.4068C>A (p.Ala1356=) c.4128C>A (p.Ala1376=) c.3780C>A (p.Ala1260=) c.3609C>A (p.Ala1203=) c.3495C>A (p.Ala1165=) c.3057C>A (p.Ala1019=) n.4325C>A | |
3 | g.47000248C>G | CA433598296 | NBEAL2 | c.4149C>G (p.Ala1383=) c.4047C>G (p.Ala1349=) c.2012C>G c.621C>G (p.Ala207=) c.4068C>G (p.Ala1356=) c.4128C>G (p.Ala1376=) c.3780C>G (p.Ala1260=) c.3609C>G (p.Ala1203=) c.3495C>G (p.Ala1165=) c.3057C>G (p.Ala1019=) n.4325C>G | |
3 | g.47000248C>T | CA433598297 | NBEAL2 | c.4149C>T (p.Ala1383=) c.4047C>T (p.Ala1349=) c.2012C>T c.621C>T (p.Ala207=) c.4068C>T (p.Ala1356=) c.4128C>T (p.Ala1376=) c.3780C>T (p.Ala1260=) c.3609C>T (p.Ala1203=) c.3495C>T (p.Ala1165=) c.3057C>T (p.Ala1019=) n.4325C>T | |
3 | g.47000249A>C | CA352517005 | NBEAL2 | c.4150A>C (p.Ser1384Arg) c.4048A>C (p.Ser1350Arg) c.2013A>C c.622A>C (p.Ser208Arg) c.4069A>C (p.Ser1357Arg) c.4129A>C (p.Ser1377Arg) c.3781A>C (p.Ser1261Arg) c.3610A>C (p.Ser1204Arg) c.3496A>C (p.Ser1166Arg) c.3058A>C (p.Ser1020Arg) n.4326A>C | |
3 | g.47000249A>G | CA352517006 | NBEAL2 | c.4150A>G (p.Ser1384Gly) c.4048A>G (p.Ser1350Gly) c.2013A>G c.622A>G (p.Ser208Gly) c.4069A>G (p.Ser1357Gly) c.4129A>G (p.Ser1377Gly) c.3781A>G (p.Ser1261Gly) c.3610A>G (p.Ser1204Gly) c.3496A>G (p.Ser1166Gly) c.3058A>G (p.Ser1020Gly) n.4326A>G | |
3 | g.47000249A>T | CA352517007 | NBEAL2 | c.4150A>T (p.Ser1384Cys) c.4048A>T (p.Ser1350Cys) c.2013A>T c.622A>T (p.Ser208Cys) c.4069A>T (p.Ser1357Cys) c.4129A>T (p.Ser1377Cys) c.3781A>T (p.Ser1261Cys) c.3610A>T (p.Ser1204Cys) c.3496A>T (p.Ser1166Cys) c.3058A>T (p.Ser1020Cys) n.4326A>T | |
3 | g.47000250G>A | CA352517008 | NBEAL2 | c.4151G>A (p.Ser1384Asn) c.4049G>A (p.Ser1350Asn) c.2014G>A c.623G>A (p.Ser208Asn) c.4070G>A (p.Ser1357Asn) c.4130G>A (p.Ser1377Asn) c.3782G>A (p.Ser1261Asn) c.3611G>A (p.Ser1204Asn) c.3497G>A (p.Ser1166Asn) c.3059G>A (p.Ser1020Asn) n.4327G>A | |
3 | g.47000250G>C | CA352517009 | NBEAL2 | c.4151G>C (p.Ser1384Thr) c.4049G>C (p.Ser1350Thr) c.2014G>C c.623G>C (p.Ser208Thr) c.4070G>C (p.Ser1357Thr) c.4130G>C (p.Ser1377Thr) c.3782G>C (p.Ser1261Thr) c.3611G>C (p.Ser1204Thr) c.3497G>C (p.Ser1166Thr) c.3059G>C (p.Ser1020Thr) n.4327G>C | |
3 | g.47000250G>T | CA352517010 | NBEAL2 | c.4151G>T (p.Ser1384Ile) c.4049G>T (p.Ser1350Ile) c.2014G>T c.623G>T (p.Ser208Ile) c.4070G>T (p.Ser1357Ile) c.4130G>T (p.Ser1377Ile) c.3782G>T (p.Ser1261Ile) c.3611G>T (p.Ser1204Ile) c.3497G>T (p.Ser1166Ile) c.3059G>T (p.Ser1020Ile) n.4327G>T | |
3 | g.47000250_47000251insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG | CA2665493248 | NBEAL2 | c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1384ArgfsTer?) c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1350ArgfsTer?) c.2014_2015insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG c.623_624insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser208ArgfsTer?) c.4070_4071insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1357ArgfsTer?) c.4130_4131insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1377ArgfsTer?) c.3782_3783insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1261ArgfsTer?) c.3611_3612insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1204ArgfsTer?) c.3497_3498insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1166ArgfsTer?) c.3059_3060insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1020ArgfsTer?) n.4327_4328insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG | gnomAD v4 |
3 | g.47000251C>A | CA352517011 | NBEAL2 | c.4152C>A (p.Ser1384Arg) c.4050C>A (p.Ser1350Arg) c.2015C>A c.624C>A (p.Ser208Arg) c.4071C>A (p.Ser1357Arg) c.4131C>A (p.Ser1377Arg) c.3783C>A (p.Ser1261Arg) c.3612C>A (p.Ser1204Arg) c.3498C>A (p.Ser1166Arg) c.3060C>A (p.Ser1020Arg) n.4328C>A | |
3 | g.47000251C>G | CA352517012 | NBEAL2 | c.4152C>G (p.Ser1384Arg) c.4050C>G (p.Ser1350Arg) c.2015C>G c.624C>G (p.Ser208Arg) c.4071C>G (p.Ser1357Arg) c.4131C>G (p.Ser1377Arg) c.3783C>G (p.Ser1261Arg) c.3612C>G (p.Ser1204Arg) c.3498C>G (p.Ser1166Arg) c.3060C>G (p.Ser1020Arg) n.4328C>G | |
3 | g.47000251C>T | CA433598298 | NBEAL2 | c.4152C>T (p.Ser1384=) c.4050C>T (p.Ser1350=) c.2015C>T c.624C>T (p.Ser208=) c.4071C>T (p.Ser1357=) c.4131C>T (p.Ser1377=) c.3783C>T (p.Ser1261=) c.3612C>T (p.Ser1204=) c.3498C>T (p.Ser1166=) c.3060C>T (p.Ser1020=) n.4328C>T | |
3 | g.47000252C>A | CA352517013 | NBEAL2 | c.4153C>A (p.Gln1385Lys) c.4051C>A (p.Gln1351Lys) c.2016C>A c.625C>A (p.Gln209Lys) c.4072C>A (p.Gln1358Lys) c.4132C>A (p.Gln1378Lys) c.3784C>A (p.Gln1262Lys) c.3613C>A (p.Gln1205Lys) c.3499C>A (p.Gln1167Lys) c.3061C>A (p.Gln1021Lys) n.4329C>A | |
3 | g.47000252C>G | CA352517015 | NBEAL2 | c.4153C>G (p.Gln1385Glu) c.4051C>G (p.Gln1351Glu) c.2016C>G c.625C>G (p.Gln209Glu) c.4072C>G (p.Gln1358Glu) c.4132C>G (p.Gln1378Glu) c.3784C>G (p.Gln1262Glu) c.3613C>G (p.Gln1205Glu) c.3499C>G (p.Gln1167Glu) c.3061C>G (p.Gln1021Glu) n.4329C>G | |
3 | g.47000252C>T | CA352517014 | NBEAL2 | c.4153C>T (p.Gln1385Ter) c.4051C>T (p.Gln1351Ter) c.2016C>T c.625C>T (p.Gln209Ter) c.4072C>T (p.Gln1358Ter) c.4132C>T (p.Gln1378Ter) c.3784C>T (p.Gln1262Ter) c.3613C>T (p.Gln1205Ter) c.3499C>T (p.Gln1167Ter) c.3061C>T (p.Gln1021Ter) n.4329C>T | gnomAD v4 |
3 | g.47000253A>C | CA352517016 | NBEAL2 | c.4154A>C (p.Gln1385Pro) c.4052A>C (p.Gln1351Pro) c.2017A>C c.626A>C (p.Gln209Pro) c.4073A>C (p.Gln1358Pro) c.4133A>C (p.Gln1378Pro) c.3785A>C (p.Gln1262Pro) c.3614A>C (p.Gln1205Pro) c.3500A>C (p.Gln1167Pro) c.3062A>C (p.Gln1021Pro) n.4330A>C | |
3 | g.47000253A>G | CA352517017 | NBEAL2 | c.4154A>G (p.Gln1385Arg) c.4052A>G (p.Gln1351Arg) c.2017A>G c.626A>G (p.Gln209Arg) c.4073A>G (p.Gln1358Arg) c.4133A>G (p.Gln1378Arg) c.3785A>G (p.Gln1262Arg) c.3614A>G (p.Gln1205Arg) c.3500A>G (p.Gln1167Arg) c.3062A>G (p.Gln1021Arg) n.4330A>G | |
3 | g.47000253A>T | CA352517018 | NBEAL2 | c.4154A>T (p.Gln1385Leu) c.4052A>T (p.Gln1351Leu) c.2017A>T c.626A>T (p.Gln209Leu) c.4073A>T (p.Gln1358Leu) c.4133A>T (p.Gln1378Leu) c.3785A>T (p.Gln1262Leu) c.3614A>T (p.Gln1205Leu) c.3500A>T (p.Gln1167Leu) c.3062A>T (p.Gln1021Leu) n.4330A>T |