| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101081595T>A | CA388650336 | NALCN | c.3817A>T (p.Arg1273Ter) c.3538A>T (p.Arg1180Ter) c.3904A>T (p.Arg1302Ter) c.3730A>T (p.Arg1244Ter) c.3874A>T (p.Arg1292Ter) c.3787A>T (p.Arg1263Ter) c.3595A>T (p.Arg1199Ter) c.3370A>T (p.Arg1124Ter) c.3052A>T (p.Arg1018Ter) c.3961A>T (p.Arg1321Ter) | |
| 13 | g.101081595T>C | CA388650337 | NALCN | c.3817A>G (p.Arg1273Gly) c.3538A>G (p.Arg1180Gly) c.3904A>G (p.Arg1302Gly) c.3730A>G (p.Arg1244Gly) c.3874A>G (p.Arg1292Gly) c.3787A>G (p.Arg1263Gly) c.3595A>G (p.Arg1199Gly) c.3370A>G (p.Arg1124Gly) c.3052A>G (p.Arg1018Gly) c.3961A>G (p.Arg1321Gly) | |
| 13 | g.101081595T>G | CA484552158 | NALCN | c.3817A>C (p.Arg1273=) c.3538A>C (p.Arg1180=) c.3904A>C (p.Arg1302=) c.3730A>C (p.Arg1244=) c.3874A>C (p.Arg1292=) c.3787A>C (p.Arg1263=) c.3595A>C (p.Arg1199=) c.3370A>C (p.Arg1124=) c.3052A>C (p.Arg1018=) c.3961A>C (p.Arg1321=) | |
| 13 | g.101081596T>A | CA388650339 | NALCN | c.3816A>T (p.Arg1272Ser) c.3537A>T (p.Arg1179Ser) c.3903A>T (p.Arg1301Ser) c.3729A>T (p.Arg1243Ser) c.3873A>T (p.Arg1291Ser) c.3786A>T (p.Arg1262Ser) c.3594A>T (p.Arg1198Ser) c.3369A>T (p.Arg1123Ser) c.3051A>T (p.Arg1017Ser) c.3960A>T (p.Arg1320Ser) | |
| 13 | g.101081596T>C | CA7035289 | NALCN | c.3816A>G (p.Arg1272=) c.3537A>G (p.Arg1179=) c.3903A>G (p.Arg1301=) c.3729A>G (p.Arg1243=) c.3873A>G (p.Arg1291=) c.3786A>G (p.Arg1262=) c.3594A>G (p.Arg1198=) c.3369A>G (p.Arg1123=) c.3051A>G (p.Arg1017=) c.3960A>G (p.Arg1320=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081596T>G | CA388650341 | NALCN | c.3816A>C (p.Arg1272Ser) c.3537A>C (p.Arg1179Ser) c.3903A>C (p.Arg1301Ser) c.3729A>C (p.Arg1243Ser) c.3873A>C (p.Arg1291Ser) c.3786A>C (p.Arg1262Ser) c.3594A>C (p.Arg1198Ser) c.3369A>C (p.Arg1123Ser) c.3051A>C (p.Arg1017Ser) c.3960A>C (p.Arg1320Ser) | |
| 13 | g.101081596T= | CA2114388856 | NALCN | c.3816A= (p.Arg1272=) c.3537A= (p.Arg1179=) c.3903A= (p.Arg1301=) c.3729A= (p.Arg1243=) c.3873A= (p.Arg1291=) c.3786A= (p.Arg1262=) c.3594A= (p.Arg1198=) c.3369A= (p.Arg1123=) c.3051A= (p.Arg1017=) c.3960A= (p.Arg1320=) | |
| 13 | g.101081597C>A | CA388650343 | NALCN | c.3815G>T (p.Arg1272Ile) c.3536G>T (p.Arg1179Ile) c.3902G>T (p.Arg1301Ile) c.3728G>T (p.Arg1243Ile) c.3872G>T (p.Arg1291Ile) c.3785G>T (p.Arg1262Ile) c.3593G>T (p.Arg1198Ile) c.3368G>T (p.Arg1123Ile) c.3050G>T (p.Arg1017Ile) c.3959G>T (p.Arg1320Ile) | |
| 13 | g.101081597C>G | CA388650344 | NALCN | c.3815G>C (p.Arg1272Thr) c.3536G>C (p.Arg1179Thr) c.3902G>C (p.Arg1301Thr) c.3728G>C (p.Arg1243Thr) c.3872G>C (p.Arg1291Thr) c.3785G>C (p.Arg1262Thr) c.3593G>C (p.Arg1198Thr) c.3368G>C (p.Arg1123Thr) c.3050G>C (p.Arg1017Thr) c.3959G>C (p.Arg1320Thr) | |
| 13 | g.101081597C>T | CA388650346 | NALCN | c.3815G>A (p.Arg1272Lys) c.3536G>A (p.Arg1179Lys) c.3902G>A (p.Arg1301Lys) c.3728G>A (p.Arg1243Lys) c.3872G>A (p.Arg1291Lys) c.3785G>A (p.Arg1262Lys) c.3593G>A (p.Arg1198Lys) c.3368G>A (p.Arg1123Lys) c.3050G>A (p.Arg1017Lys) c.3959G>A (p.Arg1320Lys) | |
| 13 | g.101081598T>A | CA388650348 | NALCN | c.3814A>T (p.Arg1272Ter) c.3535A>T (p.Arg1179Ter) c.3901A>T (p.Arg1301Ter) c.3727A>T (p.Arg1243Ter) c.3871A>T (p.Arg1291Ter) c.3784A>T (p.Arg1262Ter) c.3592A>T (p.Arg1198Ter) c.3367A>T (p.Arg1123Ter) c.3049A>T (p.Arg1017Ter) c.3958A>T (p.Arg1320Ter) | |
| 13 | g.101081598T>C | CA388650349 | NALCN | c.3814A>G (p.Arg1272Gly) c.3535A>G (p.Arg1179Gly) c.3901A>G (p.Arg1301Gly) c.3727A>G (p.Arg1243Gly) c.3871A>G (p.Arg1291Gly) c.3784A>G (p.Arg1262Gly) c.3592A>G (p.Arg1198Gly) c.3367A>G (p.Arg1123Gly) c.3049A>G (p.Arg1017Gly) c.3958A>G (p.Arg1320Gly) | |
| 13 | g.101081598T>G | CA484552174 | NALCN | c.3814A>C (p.Arg1272=) c.3535A>C (p.Arg1179=) c.3901A>C (p.Arg1301=) c.3727A>C (p.Arg1243=) c.3871A>C (p.Arg1291=) c.3784A>C (p.Arg1262=) c.3592A>C (p.Arg1198=) c.3367A>C (p.Arg1123=) c.3049A>C (p.Arg1017=) c.3958A>C (p.Arg1320=) | |
| 13 | g.101081599G>A | CA484552177 | NALCN | c.3813C>T (p.Ser1271=) c.3534C>T (p.Ser1178=) c.3900C>T (p.Ser1300=) c.3726C>T (p.Ser1242=) c.3870C>T (p.Ser1290=) c.3783C>T (p.Ser1261=) c.3591C>T (p.Ser1197=) c.3366C>T (p.Ser1122=) c.3048C>T (p.Ser1016=) c.3957C>T (p.Ser1319=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101081599G>C | CA388650353 | NALCN | c.3813C>G (p.Ser1271Arg) c.3534C>G (p.Ser1178Arg) c.3900C>G (p.Ser1300Arg) c.3726C>G (p.Ser1242Arg) c.3870C>G (p.Ser1290Arg) c.3783C>G (p.Ser1261Arg) c.3591C>G (p.Ser1197Arg) c.3366C>G (p.Ser1122Arg) c.3048C>G (p.Ser1016Arg) c.3957C>G (p.Ser1319Arg) | |
| 13 | g.101081599G= | CA2114388857 | NALCN | c.3813C= (p.Ser1271=) c.3534C= (p.Ser1178=) c.3900C= (p.Ser1300=) c.3726C= (p.Ser1242=) c.3870C= (p.Ser1290=) c.3783C= (p.Ser1261=) c.3591C= (p.Ser1197=) c.3366C= (p.Ser1122=) c.3048C= (p.Ser1016=) c.3957C= (p.Ser1319=) | |
| 13 | g.101081599G>T | CA388650351 | NALCN | c.3813C>A (p.Ser1271Arg) c.3534C>A (p.Ser1178Arg) c.3900C>A (p.Ser1300Arg) c.3726C>A (p.Ser1242Arg) c.3870C>A (p.Ser1290Arg) c.3783C>A (p.Ser1261Arg) c.3591C>A (p.Ser1197Arg) c.3366C>A (p.Ser1122Arg) c.3048C>A (p.Ser1016Arg) c.3957C>A (p.Ser1319Arg) | |
| 13 | g.101081600C>A | CA388650355 | NALCN | c.3812G>T (p.Ser1271Ile) c.3533G>T (p.Ser1178Ile) c.3899G>T (p.Ser1300Ile) c.3725G>T (p.Ser1242Ile) c.3869G>T (p.Ser1290Ile) c.3782G>T (p.Ser1261Ile) c.3590G>T (p.Ser1197Ile) c.3365G>T (p.Ser1122Ile) c.3047G>T (p.Ser1016Ile) c.3956G>T (p.Ser1319Ile) | |
| 13 | g.101081600C>G | CA388650356 | NALCN | c.3812G>C (p.Ser1271Thr) c.3533G>C (p.Ser1178Thr) c.3899G>C (p.Ser1300Thr) c.3725G>C (p.Ser1242Thr) c.3869G>C (p.Ser1290Thr) c.3782G>C (p.Ser1261Thr) c.3590G>C (p.Ser1197Thr) c.3365G>C (p.Ser1122Thr) c.3047G>C (p.Ser1016Thr) c.3956G>C (p.Ser1319Thr) | |
| 13 | g.101081600C>T | CA388650358 | NALCN | c.3812G>A (p.Ser1271Asn) c.3533G>A (p.Ser1178Asn) c.3899G>A (p.Ser1300Asn) c.3725G>A (p.Ser1242Asn) c.3869G>A (p.Ser1290Asn) c.3782G>A (p.Ser1261Asn) c.3590G>A (p.Ser1197Asn) c.3365G>A (p.Ser1122Asn) c.3047G>A (p.Ser1016Asn) c.3956G>A (p.Ser1319Asn) | |
| 13 | g.101081601T>A | CA388650359 | NALCN | c.3811A>T (p.Ser1271Cys) c.3532A>T (p.Ser1178Cys) c.3898A>T (p.Ser1300Cys) c.3724A>T (p.Ser1242Cys) c.3868A>T (p.Ser1290Cys) c.3781A>T (p.Ser1261Cys) c.3589A>T (p.Ser1197Cys) c.3364A>T (p.Ser1122Cys) c.3046A>T (p.Ser1016Cys) c.3955A>T (p.Ser1319Cys) | |
| 13 | g.101081601T>C | CA388650361 | NALCN | c.3811A>G (p.Ser1271Gly) c.3532A>G (p.Ser1178Gly) c.3898A>G (p.Ser1300Gly) c.3724A>G (p.Ser1242Gly) c.3868A>G (p.Ser1290Gly) c.3781A>G (p.Ser1261Gly) c.3589A>G (p.Ser1197Gly) c.3364A>G (p.Ser1122Gly) c.3046A>G (p.Ser1016Gly) c.3955A>G (p.Ser1319Gly) | |
| 13 | g.101081601T>G | CA388650362 | NALCN | c.3811A>C (p.Ser1271Arg) c.3532A>C (p.Ser1178Arg) c.3898A>C (p.Ser1300Arg) c.3724A>C (p.Ser1242Arg) c.3868A>C (p.Ser1290Arg) c.3781A>C (p.Ser1261Arg) c.3589A>C (p.Ser1197Arg) c.3364A>C (p.Ser1122Arg) c.3046A>C (p.Ser1016Arg) c.3955A>C (p.Ser1319Arg) | |
| 13 | g.101081602T>A | CA388650364 | NALCN | c.3810A>T (p.Gln1270His) c.3531A>T (p.Gln1177His) c.3897A>T (p.Gln1299His) c.3723A>T (p.Gln1241His) c.3867A>T (p.Gln1289His) c.3780A>T (p.Gln1260His) c.3588A>T (p.Gln1196His) c.3363A>T (p.Gln1121His) c.3045A>T (p.Gln1015His) c.3954A>T (p.Gln1318His) | |
| 13 | g.101081602T>C | CA484552185 | NALCN | c.3810A>G (p.Gln1270=) c.3531A>G (p.Gln1177=) c.3897A>G (p.Gln1299=) c.3723A>G (p.Gln1241=) c.3867A>G (p.Gln1289=) c.3780A>G (p.Gln1260=) c.3588A>G (p.Gln1196=) c.3363A>G (p.Gln1121=) c.3045A>G (p.Gln1015=) c.3954A>G (p.Gln1318=) | |
| 13 | g.101081602T>G | CA388650365 | NALCN | c.3810A>C (p.Gln1270His) c.3531A>C (p.Gln1177His) c.3897A>C (p.Gln1299His) c.3723A>C (p.Gln1241His) c.3867A>C (p.Gln1289His) c.3780A>C (p.Gln1260His) c.3588A>C (p.Gln1196His) c.3363A>C (p.Gln1121His) c.3045A>C (p.Gln1015His) c.3954A>C (p.Gln1318His) | |
| 13 | g.101081603T>A | CA388650367 | NALCN | c.3809A>T (p.Gln1270Leu) c.3530A>T (p.Gln1177Leu) c.3896A>T (p.Gln1299Leu) c.3722A>T (p.Gln1241Leu) c.3866A>T (p.Gln1289Leu) c.3779A>T (p.Gln1260Leu) c.3587A>T (p.Gln1196Leu) c.3362A>T (p.Gln1121Leu) c.3044A>T (p.Gln1015Leu) c.3953A>T (p.Gln1318Leu) | |
| 13 | g.101081603T>C | CA388650369 | NALCN | c.3809A>G (p.Gln1270Arg) c.3530A>G (p.Gln1177Arg) c.3896A>G (p.Gln1299Arg) c.3722A>G (p.Gln1241Arg) c.3866A>G (p.Gln1289Arg) c.3779A>G (p.Gln1260Arg) c.3587A>G (p.Gln1196Arg) c.3362A>G (p.Gln1121Arg) c.3044A>G (p.Gln1015Arg) c.3953A>G (p.Gln1318Arg) | |
| 13 | g.101081603T>G | CA388650370 | NALCN | c.3809A>C (p.Gln1270Pro) c.3530A>C (p.Gln1177Pro) c.3896A>C (p.Gln1299Pro) c.3722A>C (p.Gln1241Pro) c.3866A>C (p.Gln1289Pro) c.3779A>C (p.Gln1260Pro) c.3587A>C (p.Gln1196Pro) c.3362A>C (p.Gln1121Pro) c.3044A>C (p.Gln1015Pro) c.3953A>C (p.Gln1318Pro) | |
| 13 | g.101081604G>A | CA388650372 | NALCN | c.3808C>T (p.Gln1270Ter) c.3529C>T (p.Gln1177Ter) c.3895C>T (p.Gln1299Ter) c.3721C>T (p.Gln1241Ter) c.3865C>T (p.Gln1289Ter) c.3778C>T (p.Gln1260Ter) c.3586C>T (p.Gln1196Ter) c.3361C>T (p.Gln1121Ter) c.3043C>T (p.Gln1015Ter) c.3952C>T (p.Gln1318Ter) | ClinVar dbSNP |
| 13 | g.101081604G>C | CA388650373 | NALCN | c.3808C>G (p.Gln1270Glu) c.3529C>G (p.Gln1177Glu) c.3895C>G (p.Gln1299Glu) c.3721C>G (p.Gln1241Glu) c.3865C>G (p.Gln1289Glu) c.3778C>G (p.Gln1260Glu) c.3586C>G (p.Gln1196Glu) c.3361C>G (p.Gln1121Glu) c.3043C>G (p.Gln1015Glu) c.3952C>G (p.Gln1318Glu) | |
| 13 | g.101081604G= | CA2114388858 | NALCN | c.3808C= (p.Gln1270=) c.3529C= (p.Gln1177=) c.3895C= (p.Gln1299=) c.3721C= (p.Gln1241=) c.3865C= (p.Gln1289=) c.3778C= (p.Gln1260=) c.3586C= (p.Gln1196=) c.3361C= (p.Gln1121=) c.3043C= (p.Gln1015=) c.3952C= (p.Gln1318=) | |
| 13 | g.101081604G>T | CA388650375 | NALCN | c.3808C>A (p.Gln1270Lys) c.3529C>A (p.Gln1177Lys) c.3895C>A (p.Gln1299Lys) c.3721C>A (p.Gln1241Lys) c.3865C>A (p.Gln1289Lys) c.3778C>A (p.Gln1260Lys) c.3586C>A (p.Gln1196Lys) c.3361C>A (p.Gln1121Lys) c.3043C>A (p.Gln1015Lys) c.3952C>A (p.Gln1318Lys) | dbSNP COSMIC |
| 13 | g.101081605C>A | CA388650379 | NALCN | c.3807G>T (p.Trp1269Cys) c.3528G>T (p.Trp1176Cys) c.3894G>T (p.Trp1298Cys) c.3720G>T (p.Trp1240Cys) c.3864G>T (p.Trp1288Cys) c.3777G>T (p.Trp1259Cys) c.3585G>T (p.Trp1195Cys) c.3360G>T (p.Trp1120Cys) c.3042G>T (p.Trp1014Cys) c.3951G>T (p.Trp1317Cys) | COSMIC |
| 13 | g.101081605C= | CA2114388859 | NALCN | c.3807G= (p.Trp1269=) c.3528G= (p.Trp1176=) c.3894G= (p.Trp1298=) c.3720G= (p.Trp1240=) c.3864G= (p.Trp1288=) c.3777G= (p.Trp1259=) c.3585G= (p.Trp1195=) c.3360G= (p.Trp1120=) c.3042G= (p.Trp1014=) c.3951G= (p.Trp1317=) | |
| 13 | g.101081605C>G | CA388650378 | NALCN | c.3807G>C (p.Trp1269Cys) c.3528G>C (p.Trp1176Cys) c.3894G>C (p.Trp1298Cys) c.3720G>C (p.Trp1240Cys) c.3864G>C (p.Trp1288Cys) c.3777G>C (p.Trp1259Cys) c.3585G>C (p.Trp1195Cys) c.3360G>C (p.Trp1120Cys) c.3042G>C (p.Trp1014Cys) c.3951G>C (p.Trp1317Cys) | |
| 13 | g.101081605C>T | CA388650377 | NALCN | c.3807G>A (p.Trp1269Ter) c.3528G>A (p.Trp1176Ter) c.3894G>A (p.Trp1298Ter) c.3720G>A (p.Trp1240Ter) c.3864G>A (p.Trp1288Ter) c.3777G>A (p.Trp1259Ter) c.3585G>A (p.Trp1195Ter) c.3360G>A (p.Trp1120Ter) c.3042G>A (p.Trp1014Ter) c.3951G>A (p.Trp1317Ter) | dbSNP gnomAD v2 |
| 13 | g.101081606C>A | CA388650380 | NALCN | c.3806G>T (p.Trp1269Leu) c.3527G>T (p.Trp1176Leu) c.3893G>T (p.Trp1298Leu) c.3719G>T (p.Trp1240Leu) c.3863G>T (p.Trp1288Leu) c.3776G>T (p.Trp1259Leu) c.3584G>T (p.Trp1195Leu) c.3359G>T (p.Trp1120Leu) c.3041G>T (p.Trp1014Leu) c.3950G>T (p.Trp1317Leu) | |
| 13 | g.101081606C>G | CA388650381 | NALCN | c.3806G>C (p.Trp1269Ser) c.3527G>C (p.Trp1176Ser) c.3893G>C (p.Trp1298Ser) c.3719G>C (p.Trp1240Ser) c.3863G>C (p.Trp1288Ser) c.3776G>C (p.Trp1259Ser) c.3584G>C (p.Trp1195Ser) c.3359G>C (p.Trp1120Ser) c.3041G>C (p.Trp1014Ser) c.3950G>C (p.Trp1317Ser) | |
| 13 | g.101081606C>T | CA388650382 | NALCN | c.3806G>A (p.Trp1269Ter) c.3527G>A (p.Trp1176Ter) c.3893G>A (p.Trp1298Ter) c.3719G>A (p.Trp1240Ter) c.3863G>A (p.Trp1288Ter) c.3776G>A (p.Trp1259Ter) c.3584G>A (p.Trp1195Ter) c.3359G>A (p.Trp1120Ter) c.3041G>A (p.Trp1014Ter) c.3950G>A (p.Trp1317Ter) | |
| 13 | g.101081607A= | CA2114388860 | NALCN | c.3805T= (p.Trp1269=) c.3526T= (p.Trp1176=) c.3892T= (p.Trp1298=) c.3718T= (p.Trp1240=) c.3862T= (p.Trp1288=) c.3775T= (p.Trp1259=) c.3583T= (p.Trp1195=) c.3358T= (p.Trp1120=) c.3040T= (p.Trp1014=) c.3949T= (p.Trp1317=) | |
| 13 | g.101081607A>C | CA388650383 | NALCN | c.3805T>G (p.Trp1269Gly) c.3526T>G (p.Trp1176Gly) c.3892T>G (p.Trp1298Gly) c.3718T>G (p.Trp1240Gly) c.3862T>G (p.Trp1288Gly) c.3775T>G (p.Trp1259Gly) c.3583T>G (p.Trp1195Gly) c.3358T>G (p.Trp1120Gly) c.3040T>G (p.Trp1014Gly) c.3949T>G (p.Trp1317Gly) | |
| 13 | g.101081607A>G | CA7035290 | NALCN | c.3805T>C (p.Trp1269Arg) c.3526T>C (p.Trp1176Arg) c.3892T>C (p.Trp1298Arg) c.3718T>C (p.Trp1240Arg) c.3862T>C (p.Trp1288Arg) c.3775T>C (p.Trp1259Arg) c.3583T>C (p.Trp1195Arg) c.3358T>C (p.Trp1120Arg) c.3040T>C (p.Trp1014Arg) c.3949T>C (p.Trp1317Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081607A>T | CA388650384 | NALCN | c.3805T>A (p.Trp1269Arg) c.3526T>A (p.Trp1176Arg) c.3892T>A (p.Trp1298Arg) c.3718T>A (p.Trp1240Arg) c.3862T>A (p.Trp1288Arg) c.3775T>A (p.Trp1259Arg) c.3583T>A (p.Trp1195Arg) c.3358T>A (p.Trp1120Arg) c.3040T>A (p.Trp1014Arg) c.3949T>A (p.Trp1317Arg) | |
| 13 | g.101081608G>A | CA484552218 | NALCN | c.3804C>T (p.Phe1268=) c.3525C>T (p.Phe1175=) c.3891C>T (p.Phe1297=) c.3717C>T (p.Phe1239=) c.3861C>T (p.Phe1287=) c.3774C>T (p.Phe1258=) c.3582C>T (p.Phe1194=) c.3357C>T (p.Phe1119=) c.3039C>T (p.Phe1013=) c.3948C>T (p.Phe1316=) | gnomAD v4 COSMIC |
| 13 | g.101081608G>C | CA388650385 | NALCN | c.3804C>G (p.Phe1268Leu) c.3525C>G (p.Phe1175Leu) c.3891C>G (p.Phe1297Leu) c.3717C>G (p.Phe1239Leu) c.3861C>G (p.Phe1287Leu) c.3774C>G (p.Phe1258Leu) c.3582C>G (p.Phe1194Leu) c.3357C>G (p.Phe1119Leu) c.3039C>G (p.Phe1013Leu) c.3948C>G (p.Phe1316Leu) | |
| 13 | g.101081608G>T | CA388650386 | NALCN | c.3804C>A (p.Phe1268Leu) c.3525C>A (p.Phe1175Leu) c.3891C>A (p.Phe1297Leu) c.3717C>A (p.Phe1239Leu) c.3861C>A (p.Phe1287Leu) c.3774C>A (p.Phe1258Leu) c.3582C>A (p.Phe1194Leu) c.3357C>A (p.Phe1119Leu) c.3039C>A (p.Phe1013Leu) c.3948C>A (p.Phe1316Leu) | |
| 13 | g.101081609A>C | CA388650388 | NALCN | c.3803T>G (p.Phe1268Cys) c.3524T>G (p.Phe1175Cys) c.3890T>G (p.Phe1297Cys) c.3716T>G (p.Phe1239Cys) c.3860T>G (p.Phe1287Cys) c.3773T>G (p.Phe1258Cys) c.3581T>G (p.Phe1194Cys) c.3356T>G (p.Phe1119Cys) c.3038T>G (p.Phe1013Cys) c.3947T>G (p.Phe1316Cys) | |
| 13 | g.101081609A>G | CA388650389 | NALCN | c.3803T>C (p.Phe1268Ser) c.3524T>C (p.Phe1175Ser) c.3890T>C (p.Phe1297Ser) c.3716T>C (p.Phe1239Ser) c.3860T>C (p.Phe1287Ser) c.3773T>C (p.Phe1258Ser) c.3581T>C (p.Phe1194Ser) c.3356T>C (p.Phe1119Ser) c.3038T>C (p.Phe1013Ser) c.3947T>C (p.Phe1316Ser) | |
| 13 | g.101081609A>T | CA388650391 | NALCN | c.3803T>A (p.Phe1268Tyr) c.3524T>A (p.Phe1175Tyr) c.3890T>A (p.Phe1297Tyr) c.3716T>A (p.Phe1239Tyr) c.3860T>A (p.Phe1287Tyr) c.3773T>A (p.Phe1258Tyr) c.3581T>A (p.Phe1194Tyr) c.3356T>A (p.Phe1119Tyr) c.3038T>A (p.Phe1013Tyr) c.3947T>A (p.Phe1316Tyr) | |
| 13 | g.101081610A>C | CA388650392 | NALCN | c.3802T>G (p.Phe1268Val) c.3523T>G (p.Phe1175Val) c.3889T>G (p.Phe1297Val) c.3715T>G (p.Phe1239Val) c.3859T>G (p.Phe1287Val) c.3772T>G (p.Phe1258Val) c.3580T>G (p.Phe1194Val) c.3355T>G (p.Phe1119Val) c.3037T>G (p.Phe1013Val) c.3946T>G (p.Phe1316Val) | |
| 13 | g.101081610A>G | CA388650393 | NALCN | c.3802T>C (p.Phe1268Leu) c.3523T>C (p.Phe1175Leu) c.3889T>C (p.Phe1297Leu) c.3715T>C (p.Phe1239Leu) c.3859T>C (p.Phe1287Leu) c.3772T>C (p.Phe1258Leu) c.3580T>C (p.Phe1194Leu) c.3355T>C (p.Phe1119Leu) c.3037T>C (p.Phe1013Leu) c.3946T>C (p.Phe1316Leu) | gnomAD v4 |
| 13 | g.101081610A>T | CA388650394 | NALCN | c.3802T>A (p.Phe1268Ile) c.3523T>A (p.Phe1175Ile) c.3889T>A (p.Phe1297Ile) c.3715T>A (p.Phe1239Ile) c.3859T>A (p.Phe1287Ile) c.3772T>A (p.Phe1258Ile) c.3580T>A (p.Phe1194Ile) c.3355T>A (p.Phe1119Ile) c.3037T>A (p.Phe1013Ile) c.3946T>A (p.Phe1316Ile) | |
| 13 | g.101081611G>A | CA484552238 | NALCN | c.3801C>T (p.Gly1267=) c.3522C>T (p.Gly1174=) c.3888C>T (p.Gly1296=) c.3714C>T (p.Gly1238=) c.3858C>T (p.Gly1286=) c.3771C>T (p.Gly1257=) c.3579C>T (p.Gly1193=) c.3354C>T (p.Gly1118=) c.3036C>T (p.Gly1012=) c.3945C>T (p.Gly1315=) | COSMIC |
| 13 | g.101081611G>C | CA484552240 | NALCN | c.3801C>G (p.Gly1267=) c.3522C>G (p.Gly1174=) c.3888C>G (p.Gly1296=) c.3714C>G (p.Gly1238=) c.3858C>G (p.Gly1286=) c.3771C>G (p.Gly1257=) c.3579C>G (p.Gly1193=) c.3354C>G (p.Gly1118=) c.3036C>G (p.Gly1012=) c.3945C>G (p.Gly1315=) | |
| 13 | g.101081611G>T | CA484552242 | NALCN | c.3801C>A (p.Gly1267=) c.3522C>A (p.Gly1174=) c.3888C>A (p.Gly1296=) c.3714C>A (p.Gly1238=) c.3858C>A (p.Gly1286=) c.3771C>A (p.Gly1257=) c.3579C>A (p.Gly1193=) c.3354C>A (p.Gly1118=) c.3036C>A (p.Gly1012=) c.3945C>A (p.Gly1315=) | |
| 13 | g.101081612C>A | CA388650398 | NALCN | c.3800G>T (p.Gly1267Val) c.3521G>T (p.Gly1174Val) c.3887G>T (p.Gly1296Val) c.3713G>T (p.Gly1238Val) c.3857G>T (p.Gly1286Val) c.3770G>T (p.Gly1257Val) c.3578G>T (p.Gly1193Val) c.3353G>T (p.Gly1118Val) c.3035G>T (p.Gly1012Val) c.3944G>T (p.Gly1315Val) | |
| 13 | g.101081612C>G | CA388650399 | NALCN | c.3800G>C (p.Gly1267Ala) c.3521G>C (p.Gly1174Ala) c.3887G>C (p.Gly1296Ala) c.3713G>C (p.Gly1238Ala) c.3857G>C (p.Gly1286Ala) c.3770G>C (p.Gly1257Ala) c.3578G>C (p.Gly1193Ala) c.3353G>C (p.Gly1118Ala) c.3035G>C (p.Gly1012Ala) c.3944G>C (p.Gly1315Ala) | |
| 13 | g.101081612C>T | CA388650396 | NALCN | c.3800G>A (p.Gly1267Asp) c.3521G>A (p.Gly1174Asp) c.3887G>A (p.Gly1296Asp) c.3713G>A (p.Gly1238Asp) c.3857G>A (p.Gly1286Asp) c.3770G>A (p.Gly1257Asp) c.3578G>A (p.Gly1193Asp) c.3353G>A (p.Gly1118Asp) c.3035G>A (p.Gly1012Asp) c.3944G>A (p.Gly1315Asp) | |
| 13 | g.101081613C>A | CA388650401 | NALCN | c.3799G>T (p.Gly1267Cys) c.3520G>T (p.Gly1174Cys) c.3886G>T (p.Gly1296Cys) c.3712G>T (p.Gly1238Cys) c.3856G>T (p.Gly1286Cys) c.3769G>T (p.Gly1257Cys) c.3577G>T (p.Gly1193Cys) c.3352G>T (p.Gly1118Cys) c.3034G>T (p.Gly1012Cys) c.3943G>T (p.Gly1315Cys) | |
| 13 | g.101081613C>G | CA388650402 | NALCN | c.3799G>C (p.Gly1267Arg) c.3520G>C (p.Gly1174Arg) c.3886G>C (p.Gly1296Arg) c.3712G>C (p.Gly1238Arg) c.3856G>C (p.Gly1286Arg) c.3769G>C (p.Gly1257Arg) c.3577G>C (p.Gly1193Arg) c.3352G>C (p.Gly1118Arg) c.3034G>C (p.Gly1012Arg) c.3943G>C (p.Gly1315Arg) | |
| 13 | g.101081613C>T | CA388650403 | NALCN | c.3799G>A (p.Gly1267Ser) c.3520G>A (p.Gly1174Ser) c.3886G>A (p.Gly1296Ser) c.3712G>A (p.Gly1238Ser) c.3856G>A (p.Gly1286Ser) c.3769G>A (p.Gly1257Ser) c.3577G>A (p.Gly1193Ser) c.3352G>A (p.Gly1118Ser) c.3034G>A (p.Gly1012Ser) c.3943G>A (p.Gly1315Ser) | |
| 13 | g.101081614A>C | CA484552263 | NALCN | c.3798T>G (p.Ala1266=) c.3519T>G (p.Ala1173=) c.3885T>G (p.Ala1295=) c.3711T>G (p.Ala1237=) c.3855T>G (p.Ala1285=) c.3768T>G (p.Ala1256=) c.3576T>G (p.Ala1192=) c.3351T>G (p.Ala1117=) c.3033T>G (p.Ala1011=) c.3942T>G (p.Ala1314=) | |
| 13 | g.101081614A>G | CA484552265 | NALCN | c.3798T>C (p.Ala1266=) c.3519T>C (p.Ala1173=) c.3885T>C (p.Ala1295=) c.3711T>C (p.Ala1237=) c.3855T>C (p.Ala1285=) c.3768T>C (p.Ala1256=) c.3576T>C (p.Ala1192=) c.3351T>C (p.Ala1117=) c.3033T>C (p.Ala1011=) c.3942T>C (p.Ala1314=) | |
| 13 | g.101081614A>T | CA484552267 | NALCN | c.3798T>A (p.Ala1266=) c.3519T>A (p.Ala1173=) c.3885T>A (p.Ala1295=) c.3711T>A (p.Ala1237=) c.3855T>A (p.Ala1285=) c.3768T>A (p.Ala1256=) c.3576T>A (p.Ala1192=) c.3351T>A (p.Ala1117=) c.3033T>A (p.Ala1011=) c.3942T>A (p.Ala1314=) | |
| 13 | g.101081615G>A | CA388650404 | NALCN | c.3797C>T (p.Ala1266Val) c.3518C>T (p.Ala1173Val) c.3884C>T (p.Ala1295Val) c.3710C>T (p.Ala1237Val) c.3854C>T (p.Ala1285Val) c.3767C>T (p.Ala1256Val) c.3575C>T (p.Ala1192Val) c.3350C>T (p.Ala1117Val) c.3032C>T (p.Ala1011Val) c.3941C>T (p.Ala1314Val) | |
| 13 | g.101081615G>C | CA388650406 | NALCN | c.3797C>G (p.Ala1266Gly) c.3518C>G (p.Ala1173Gly) c.3884C>G (p.Ala1295Gly) c.3710C>G (p.Ala1237Gly) c.3854C>G (p.Ala1285Gly) c.3767C>G (p.Ala1256Gly) c.3575C>G (p.Ala1192Gly) c.3350C>G (p.Ala1117Gly) c.3032C>G (p.Ala1011Gly) c.3941C>G (p.Ala1314Gly) | |
| 13 | g.101081615G>T | CA388650408 | NALCN | c.3797C>A (p.Ala1266Asp) c.3518C>A (p.Ala1173Asp) c.3884C>A (p.Ala1295Asp) c.3710C>A (p.Ala1237Asp) c.3854C>A (p.Ala1285Asp) c.3767C>A (p.Ala1256Asp) c.3575C>A (p.Ala1192Asp) c.3350C>A (p.Ala1117Asp) c.3032C>A (p.Ala1011Asp) c.3941C>A (p.Ala1314Asp) | |
| 13 | g.101081616C>A | CA388650409 | NALCN | c.3796G>T (p.Ala1266Ser) c.3517G>T (p.Ala1173Ser) c.3883G>T (p.Ala1295Ser) c.3709G>T (p.Ala1237Ser) c.3853G>T (p.Ala1285Ser) c.3766G>T (p.Ala1256Ser) c.3574G>T (p.Ala1192Ser) c.3349G>T (p.Ala1117Ser) c.3031G>T (p.Ala1011Ser) c.3940G>T (p.Ala1314Ser) | |
| 13 | g.101081616C>G | CA388650410 | NALCN | c.3796G>C (p.Ala1266Pro) c.3517G>C (p.Ala1173Pro) c.3883G>C (p.Ala1295Pro) c.3709G>C (p.Ala1237Pro) c.3853G>C (p.Ala1285Pro) c.3766G>C (p.Ala1256Pro) c.3574G>C (p.Ala1192Pro) c.3349G>C (p.Ala1117Pro) c.3031G>C (p.Ala1011Pro) c.3940G>C (p.Ala1314Pro) | |
| 13 | g.101081616C>T | CA388650411 | NALCN | c.3796G>A (p.Ala1266Thr) c.3517G>A (p.Ala1173Thr) c.3883G>A (p.Ala1295Thr) c.3709G>A (p.Ala1237Thr) c.3853G>A (p.Ala1285Thr) c.3766G>A (p.Ala1256Thr) c.3574G>A (p.Ala1192Thr) c.3349G>A (p.Ala1117Thr) c.3031G>A (p.Ala1011Thr) c.3940G>A (p.Ala1314Thr) | |
| 13 | g.101081617A= | CA2114388861 | NALCN | c.3795T= (p.Pro1265=) c.3516T= (p.Pro1172=) c.3882T= (p.Pro1294=) c.3708T= (p.Pro1236=) c.3852T= (p.Pro1284=) c.3765T= (p.Pro1255=) c.3573T= (p.Pro1191=) c.3348T= (p.Pro1116=) c.3030T= (p.Pro1010=) c.3939T= (p.Pro1313=) | |
| 13 | g.101081617A>C | CA484552281 | NALCN | c.3795T>G (p.Pro1265=) c.3516T>G (p.Pro1172=) c.3882T>G (p.Pro1294=) c.3708T>G (p.Pro1236=) c.3852T>G (p.Pro1284=) c.3765T>G (p.Pro1255=) c.3573T>G (p.Pro1191=) c.3348T>G (p.Pro1116=) c.3030T>G (p.Pro1010=) c.3939T>G (p.Pro1313=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101081617A>G | CA484552297 | NALCN | c.3795T>C (p.Pro1265=) c.3516T>C (p.Pro1172=) c.3882T>C (p.Pro1294=) c.3708T>C (p.Pro1236=) c.3852T>C (p.Pro1284=) c.3765T>C (p.Pro1255=) c.3573T>C (p.Pro1191=) c.3348T>C (p.Pro1116=) c.3030T>C (p.Pro1010=) c.3939T>C (p.Pro1313=) | |
| 13 | g.101081617A>T | CA484552291 | NALCN | c.3795T>A (p.Pro1265=) c.3516T>A (p.Pro1172=) c.3882T>A (p.Pro1294=) c.3708T>A (p.Pro1236=) c.3852T>A (p.Pro1284=) c.3765T>A (p.Pro1255=) c.3573T>A (p.Pro1191=) c.3348T>A (p.Pro1116=) c.3030T>A (p.Pro1010=) c.3939T>A (p.Pro1313=) | gnomAD v4 |
| 13 | g.101081618G>A | CA388650412 | NALCN | c.3794C>T (p.Pro1265Leu) c.3515C>T (p.Pro1172Leu) c.3881C>T (p.Pro1294Leu) c.3707C>T (p.Pro1236Leu) c.3851C>T (p.Pro1284Leu) c.3764C>T (p.Pro1255Leu) c.3572C>T (p.Pro1191Leu) c.3347C>T (p.Pro1116Leu) c.3029C>T (p.Pro1010Leu) c.3938C>T (p.Pro1313Leu) | |
| 13 | g.101081618G>C | CA388650414 | NALCN | c.3794C>G (p.Pro1265Arg) c.3515C>G (p.Pro1172Arg) c.3881C>G (p.Pro1294Arg) c.3707C>G (p.Pro1236Arg) c.3851C>G (p.Pro1284Arg) c.3764C>G (p.Pro1255Arg) c.3572C>G (p.Pro1191Arg) c.3347C>G (p.Pro1116Arg) c.3029C>G (p.Pro1010Arg) c.3938C>G (p.Pro1313Arg) | |
| 13 | g.101081618G>T | CA388650415 | NALCN | c.3794C>A (p.Pro1265His) c.3515C>A (p.Pro1172His) c.3881C>A (p.Pro1294His) c.3707C>A (p.Pro1236His) c.3851C>A (p.Pro1284His) c.3764C>A (p.Pro1255His) c.3572C>A (p.Pro1191His) c.3347C>A (p.Pro1116His) c.3029C>A (p.Pro1010His) c.3938C>A (p.Pro1313His) | |
| 13 | g.101081619G>A | CA388650418 | NALCN | c.3793C>T (p.Pro1265Ser) c.3514C>T (p.Pro1172Ser) c.3880C>T (p.Pro1294Ser) c.3706C>T (p.Pro1236Ser) c.3850C>T (p.Pro1284Ser) c.3763C>T (p.Pro1255Ser) c.3571C>T (p.Pro1191Ser) c.3346C>T (p.Pro1116Ser) c.3028C>T (p.Pro1010Ser) c.3937C>T (p.Pro1313Ser) | |
| 13 | g.101081619G>C | CA388650419 | NALCN | c.3793C>G (p.Pro1265Ala) c.3514C>G (p.Pro1172Ala) c.3880C>G (p.Pro1294Ala) c.3706C>G (p.Pro1236Ala) c.3850C>G (p.Pro1284Ala) c.3763C>G (p.Pro1255Ala) c.3571C>G (p.Pro1191Ala) c.3346C>G (p.Pro1116Ala) c.3028C>G (p.Pro1010Ala) c.3937C>G (p.Pro1313Ala) | |
| 13 | g.101081619G>T | CA388650417 | NALCN | c.3793C>A (p.Pro1265Thr) c.3514C>A (p.Pro1172Thr) c.3880C>A (p.Pro1294Thr) c.3706C>A (p.Pro1236Thr) c.3850C>A (p.Pro1284Thr) c.3763C>A (p.Pro1255Thr) c.3571C>A (p.Pro1191Thr) c.3346C>A (p.Pro1116Thr) c.3028C>A (p.Pro1010Thr) c.3937C>A (p.Pro1313Thr) | |
| 13 | g.101081620C>A | CA484552312 | NALCN | c.3792G>T (p.Ser1264=) c.3513G>T (p.Ser1171=) c.3879G>T (p.Ser1293=) c.3705G>T (p.Ser1235=) c.3849G>T (p.Ser1283=) c.3762G>T (p.Ser1254=) c.3570G>T (p.Ser1190=) c.3345G>T (p.Ser1115=) c.3027G>T (p.Ser1009=) c.3936G>T (p.Ser1312=) | |
| 13 | g.101081620C= | CA2114388862 | NALCN | c.3792G= (p.Ser1264=) c.3513G= (p.Ser1171=) c.3879G= (p.Ser1293=) c.3705G= (p.Ser1235=) c.3849G= (p.Ser1283=) c.3762G= (p.Ser1254=) c.3570G= (p.Ser1190=) c.3345G= (p.Ser1115=) c.3027G= (p.Ser1009=) c.3936G= (p.Ser1312=) | |
| 13 | g.101081620C>G | CA484552315 | NALCN | c.3792G>C (p.Ser1264=) c.3513G>C (p.Ser1171=) c.3879G>C (p.Ser1293=) c.3705G>C (p.Ser1235=) c.3849G>C (p.Ser1283=) c.3762G>C (p.Ser1254=) c.3570G>C (p.Ser1190=) c.3345G>C (p.Ser1115=) c.3027G>C (p.Ser1009=) c.3936G>C (p.Ser1312=) | |
| 13 | g.101081620C>T | CA7035291 | NALCN | c.3792G>A (p.Ser1264=) c.3513G>A (p.Ser1171=) c.3879G>A (p.Ser1293=) c.3705G>A (p.Ser1235=) c.3849G>A (p.Ser1283=) c.3762G>A (p.Ser1254=) c.3570G>A (p.Ser1190=) c.3345G>A (p.Ser1115=) c.3027G>A (p.Ser1009=) c.3936G>A (p.Ser1312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101081621G>A | CA255407155 | NALCN | c.3791C>T (p.Ser1264Leu) c.3512C>T (p.Ser1171Leu) c.3878C>T (p.Ser1293Leu) c.3704C>T (p.Ser1235Leu) c.3848C>T (p.Ser1283Leu) c.3761C>T (p.Ser1254Leu) c.3569C>T (p.Ser1190Leu) c.3344C>T (p.Ser1115Leu) c.3026C>T (p.Ser1009Leu) c.3935C>T (p.Ser1312Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.101081621G>C | CA388650422 | NALCN | c.3791C>G (p.Ser1264Trp) c.3512C>G (p.Ser1171Trp) c.3878C>G (p.Ser1293Trp) c.3704C>G (p.Ser1235Trp) c.3848C>G (p.Ser1283Trp) c.3761C>G (p.Ser1254Trp) c.3569C>G (p.Ser1190Trp) c.3344C>G (p.Ser1115Trp) c.3026C>G (p.Ser1009Trp) c.3935C>G (p.Ser1312Trp) | |
| 13 | g.101081621G= | CA2114388863 | NALCN | c.3791C= (p.Ser1264=) c.3512C= (p.Ser1171=) c.3878C= (p.Ser1293=) c.3704C= (p.Ser1235=) c.3848C= (p.Ser1283=) c.3761C= (p.Ser1254=) c.3569C= (p.Ser1190=) c.3344C= (p.Ser1115=) c.3026C= (p.Ser1009=) c.3935C= (p.Ser1312=) | |
| 13 | g.101081621G>T | CA388650423 | NALCN | c.3791C>A (p.Ser1264Ter) c.3512C>A (p.Ser1171Ter) c.3878C>A (p.Ser1293Ter) c.3704C>A (p.Ser1235Ter) c.3848C>A (p.Ser1283Ter) c.3761C>A (p.Ser1254Ter) c.3569C>A (p.Ser1190Ter) c.3344C>A (p.Ser1115Ter) c.3026C>A (p.Ser1009Ter) c.3935C>A (p.Ser1312Ter) | |
| 13 | g.101081622A>C | CA388650427 | NALCN | c.3790T>G (p.Ser1264Ala) c.3511T>G (p.Ser1171Ala) c.3877T>G (p.Ser1293Ala) c.3703T>G (p.Ser1235Ala) c.3847T>G (p.Ser1283Ala) c.3760T>G (p.Ser1254Ala) c.3568T>G (p.Ser1190Ala) c.3343T>G (p.Ser1115Ala) c.3025T>G (p.Ser1009Ala) c.3934T>G (p.Ser1312Ala) | |
| 13 | g.101081622A>G | CA388650426 | NALCN | c.3790T>C (p.Ser1264Pro) c.3511T>C (p.Ser1171Pro) c.3877T>C (p.Ser1293Pro) c.3703T>C (p.Ser1235Pro) c.3847T>C (p.Ser1283Pro) c.3760T>C (p.Ser1254Pro) c.3568T>C (p.Ser1190Pro) c.3343T>C (p.Ser1115Pro) c.3025T>C (p.Ser1009Pro) c.3934T>C (p.Ser1312Pro) | |
| 13 | g.101081622A>T | CA388650424 | NALCN | c.3790T>A (p.Ser1264Thr) c.3511T>A (p.Ser1171Thr) c.3877T>A (p.Ser1293Thr) c.3703T>A (p.Ser1235Thr) c.3847T>A (p.Ser1283Thr) c.3760T>A (p.Ser1254Thr) c.3568T>A (p.Ser1190Thr) c.3343T>A (p.Ser1115Thr) c.3025T>A (p.Ser1009Thr) c.3934T>A (p.Ser1312Thr) | |
| 13 | g.101081623C>A | CA388650429 | NALCN | c.3789G>T (p.Met1263Ile) c.3510G>T (p.Met1170Ile) c.3876G>T (p.Met1292Ile) c.3702G>T (p.Met1234Ile) c.3846G>T (p.Met1282Ile) c.3759G>T (p.Met1253Ile) c.3567G>T (p.Met1189Ile) c.3342G>T (p.Met1114Ile) c.3024G>T (p.Met1008Ile) c.3933G>T (p.Met1311Ile) | |
| 13 | g.101081623C>G | CA388650430 | NALCN | c.3789G>C (p.Met1263Ile) c.3510G>C (p.Met1170Ile) c.3876G>C (p.Met1292Ile) c.3702G>C (p.Met1234Ile) c.3846G>C (p.Met1282Ile) c.3759G>C (p.Met1253Ile) c.3567G>C (p.Met1189Ile) c.3342G>C (p.Met1114Ile) c.3024G>C (p.Met1008Ile) c.3933G>C (p.Met1311Ile) | |
| 13 | g.101081623C>T | CA388650432 | NALCN | c.3789G>A (p.Met1263Ile) c.3510G>A (p.Met1170Ile) c.3876G>A (p.Met1292Ile) c.3702G>A (p.Met1234Ile) c.3846G>A (p.Met1282Ile) c.3759G>A (p.Met1253Ile) c.3567G>A (p.Met1189Ile) c.3342G>A (p.Met1114Ile) c.3024G>A (p.Met1008Ile) c.3933G>A (p.Met1311Ile) | |
| 13 | g.101081624A>C | CA388650434 | NALCN | c.3788T>G (p.Met1263Arg) c.3509T>G (p.Met1170Arg) c.3875T>G (p.Met1292Arg) c.3701T>G (p.Met1234Arg) c.3845T>G (p.Met1282Arg) c.3758T>G (p.Met1253Arg) c.3566T>G (p.Met1189Arg) c.3341T>G (p.Met1114Arg) c.3023T>G (p.Met1008Arg) c.3932T>G (p.Met1311Arg) | |
| 13 | g.101081624A>G | CA388650435 | NALCN | c.3788T>C (p.Met1263Thr) c.3509T>C (p.Met1170Thr) c.3875T>C (p.Met1292Thr) c.3701T>C (p.Met1234Thr) c.3845T>C (p.Met1282Thr) c.3758T>C (p.Met1253Thr) c.3566T>C (p.Met1189Thr) c.3341T>C (p.Met1114Thr) c.3023T>C (p.Met1008Thr) c.3932T>C (p.Met1311Thr) | |
| 13 | g.101081624A>T | CA388650437 | NALCN | c.3788T>A (p.Met1263Lys) c.3509T>A (p.Met1170Lys) c.3875T>A (p.Met1292Lys) c.3701T>A (p.Met1234Lys) c.3845T>A (p.Met1282Lys) c.3758T>A (p.Met1253Lys) c.3566T>A (p.Met1189Lys) c.3341T>A (p.Met1114Lys) c.3023T>A (p.Met1008Lys) c.3932T>A (p.Met1311Lys) | |
| 13 | g.101081625T>A | CA388650439 | NALCN | c.3787A>T (p.Met1263Leu) c.3508A>T (p.Met1170Leu) c.3874A>T (p.Met1292Leu) c.3700A>T (p.Met1234Leu) c.3844A>T (p.Met1282Leu) c.3757A>T (p.Met1253Leu) c.3565A>T (p.Met1189Leu) c.3340A>T (p.Met1114Leu) c.3022A>T (p.Met1008Leu) c.3931A>T (p.Met1311Leu) | |
| 13 | g.101081625T>C | CA388650441 | NALCN | c.3787A>G (p.Met1263Val) c.3508A>G (p.Met1170Val) c.3874A>G (p.Met1292Val) c.3700A>G (p.Met1234Val) c.3844A>G (p.Met1282Val) c.3757A>G (p.Met1253Val) c.3565A>G (p.Met1189Val) c.3340A>G (p.Met1114Val) c.3022A>G (p.Met1008Val) c.3931A>G (p.Met1311Val) | |
| 13 | g.101081625T>G | CA388650440 | NALCN | c.3787A>C (p.Met1263Leu) c.3508A>C (p.Met1170Leu) c.3874A>C (p.Met1292Leu) c.3700A>C (p.Met1234Leu) c.3844A>C (p.Met1282Leu) c.3757A>C (p.Met1253Leu) c.3565A>C (p.Met1189Leu) c.3340A>C (p.Met1114Leu) c.3022A>C (p.Met1008Leu) c.3931A>C (p.Met1311Leu) | |
| 13 | g.101081626T>A | CA484552352 | NALCN | c.3786A>T (p.Ala1262=) c.3507A>T (p.Ala1169=) c.3873A>T (p.Ala1291=) c.3699A>T (p.Ala1233=) c.3843A>T (p.Ala1281=) c.3756A>T (p.Ala1252=) c.3564A>T (p.Ala1188=) c.3339A>T (p.Ala1113=) c.3021A>T (p.Ala1007=) c.3930A>T (p.Ala1310=) | |
| 13 | g.101081626T>C | CA484552355 | NALCN | c.3786A>G (p.Ala1262=) c.3507A>G (p.Ala1169=) c.3873A>G (p.Ala1291=) c.3699A>G (p.Ala1233=) c.3843A>G (p.Ala1281=) c.3756A>G (p.Ala1252=) c.3564A>G (p.Ala1188=) c.3339A>G (p.Ala1113=) c.3021A>G (p.Ala1007=) c.3930A>G (p.Ala1310=) | |
| 13 | g.101081626T>G | CA484552357 | NALCN | c.3786A>C (p.Ala1262=) c.3507A>C (p.Ala1169=) c.3873A>C (p.Ala1291=) c.3699A>C (p.Ala1233=) c.3843A>C (p.Ala1281=) c.3756A>C (p.Ala1252=) c.3564A>C (p.Ala1188=) c.3339A>C (p.Ala1113=) c.3021A>C (p.Ala1007=) c.3930A>C (p.Ala1310=) | |
| 13 | g.101081627G>A | CA388650443 | NALCN | c.3785C>T (p.Ala1262Val) c.3506C>T (p.Ala1169Val) c.3872C>T (p.Ala1291Val) c.3698C>T (p.Ala1233Val) c.3842C>T (p.Ala1281Val) c.3755C>T (p.Ala1252Val) c.3563C>T (p.Ala1188Val) c.3338C>T (p.Ala1113Val) c.3020C>T (p.Ala1007Val) c.3929C>T (p.Ala1310Val) | |
| 13 | g.101081627G>C | CA388650446 | NALCN | c.3785C>G (p.Ala1262Gly) c.3506C>G (p.Ala1169Gly) c.3872C>G (p.Ala1291Gly) c.3698C>G (p.Ala1233Gly) c.3842C>G (p.Ala1281Gly) c.3755C>G (p.Ala1252Gly) c.3563C>G (p.Ala1188Gly) c.3338C>G (p.Ala1113Gly) c.3020C>G (p.Ala1007Gly) c.3929C>G (p.Ala1310Gly) | |
| 13 | g.101081627G>T | CA388650445 | NALCN | c.3785C>A (p.Ala1262Glu) c.3506C>A (p.Ala1169Glu) c.3872C>A (p.Ala1291Glu) c.3698C>A (p.Ala1233Glu) c.3842C>A (p.Ala1281Glu) c.3755C>A (p.Ala1252Glu) c.3563C>A (p.Ala1188Glu) c.3338C>A (p.Ala1113Glu) c.3020C>A (p.Ala1007Glu) c.3929C>A (p.Ala1310Glu) | |
| 13 | g.101081628C>A | CA388650448 | NALCN | c.3784G>T (p.Ala1262Ser) c.3505G>T (p.Ala1169Ser) c.3871G>T (p.Ala1291Ser) c.3697G>T (p.Ala1233Ser) c.3841G>T (p.Ala1281Ser) c.3754G>T (p.Ala1252Ser) c.3562G>T (p.Ala1188Ser) c.3337G>T (p.Ala1113Ser) c.3019G>T (p.Ala1007Ser) c.3928G>T (p.Ala1310Ser) | |
| 13 | g.101081628C= | CA2114388864 | NALCN | c.3784G= (p.Ala1262=) c.3505G= (p.Ala1169=) c.3871G= (p.Ala1291=) c.3697G= (p.Ala1233=) c.3841G= (p.Ala1281=) c.3754G= (p.Ala1252=) c.3562G= (p.Ala1188=) c.3337G= (p.Ala1113=) c.3019G= (p.Ala1007=) c.3928G= (p.Ala1310=) | |
| 13 | g.101081628C>G | CA388650449 | NALCN | c.3784G>C (p.Ala1262Pro) c.3505G>C (p.Ala1169Pro) c.3871G>C (p.Ala1291Pro) c.3697G>C (p.Ala1233Pro) c.3841G>C (p.Ala1281Pro) c.3754G>C (p.Ala1252Pro) c.3562G>C (p.Ala1188Pro) c.3337G>C (p.Ala1113Pro) c.3019G>C (p.Ala1007Pro) c.3928G>C (p.Ala1310Pro) | dbSNP |
| 13 | g.101081628C>T | CA388650451 | NALCN | c.3784G>A (p.Ala1262Thr) c.3505G>A (p.Ala1169Thr) c.3871G>A (p.Ala1291Thr) c.3697G>A (p.Ala1233Thr) c.3841G>A (p.Ala1281Thr) c.3754G>A (p.Ala1252Thr) c.3562G>A (p.Ala1188Thr) c.3337G>A (p.Ala1113Thr) c.3019G>A (p.Ala1007Thr) c.3928G>A (p.Ala1310Thr) | ClinVar gnomAD v4 |
| 13 | g.101081629T>A | CA484552371 | NALCN | c.3783A>T (p.Ile1261=) c.3504A>T (p.Ile1168=) c.3870A>T (p.Ile1290=) c.3696A>T (p.Ile1232=) c.3840A>T (p.Ile1280=) c.3753A>T (p.Ile1251=) c.3561A>T (p.Ile1187=) c.3336A>T (p.Ile1112=) c.3018A>T (p.Ile1006=) c.3927A>T (p.Ile1309=) | |
| 13 | g.101081629T>C | CA388650452 | NALCN | c.3783A>G (p.Ile1261Met) c.3504A>G (p.Ile1168Met) c.3870A>G (p.Ile1290Met) c.3696A>G (p.Ile1232Met) c.3840A>G (p.Ile1280Met) c.3753A>G (p.Ile1251Met) c.3561A>G (p.Ile1187Met) c.3336A>G (p.Ile1112Met) c.3018A>G (p.Ile1006Met) c.3927A>G (p.Ile1309Met) | |
| 13 | g.101081629T>G | CA484552372 | NALCN | c.3783A>C (p.Ile1261=) c.3504A>C (p.Ile1168=) c.3870A>C (p.Ile1290=) c.3696A>C (p.Ile1232=) c.3840A>C (p.Ile1280=) c.3753A>C (p.Ile1251=) c.3561A>C (p.Ile1187=) c.3336A>C (p.Ile1112=) c.3018A>C (p.Ile1006=) c.3927A>C (p.Ile1309=) | |
| 13 | g.101081630A= | CA2114388865 | NALCN | c.3782T= (p.Ile1261=) c.3503T= (p.Ile1168=) c.3869T= (p.Ile1290=) c.3695T= (p.Ile1232=) c.3839T= (p.Ile1280=) c.3752T= (p.Ile1251=) c.3560T= (p.Ile1187=) c.3335T= (p.Ile1112=) c.3017T= (p.Ile1006=) c.3926T= (p.Ile1309=) | |
| 13 | g.101081630A>C | CA388650454 | NALCN | c.3782T>G (p.Ile1261Arg) c.3503T>G (p.Ile1168Arg) c.3869T>G (p.Ile1290Arg) c.3695T>G (p.Ile1232Arg) c.3839T>G (p.Ile1280Arg) c.3752T>G (p.Ile1251Arg) c.3560T>G (p.Ile1187Arg) c.3335T>G (p.Ile1112Arg) c.3017T>G (p.Ile1006Arg) c.3926T>G (p.Ile1309Arg) | |
| 13 | g.101081630A>G | CA7035292 | NALCN | c.3782T>C (p.Ile1261Thr) c.3503T>C (p.Ile1168Thr) c.3869T>C (p.Ile1290Thr) c.3695T>C (p.Ile1232Thr) c.3839T>C (p.Ile1280Thr) c.3752T>C (p.Ile1251Thr) c.3560T>C (p.Ile1187Thr) c.3335T>C (p.Ile1112Thr) c.3017T>C (p.Ile1006Thr) c.3926T>C (p.Ile1309Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081630A>T | CA388650456 | NALCN | c.3782T>A (p.Ile1261Lys) c.3503T>A (p.Ile1168Lys) c.3869T>A (p.Ile1290Lys) c.3695T>A (p.Ile1232Lys) c.3839T>A (p.Ile1280Lys) c.3752T>A (p.Ile1251Lys) c.3560T>A (p.Ile1187Lys) c.3335T>A (p.Ile1112Lys) c.3017T>A (p.Ile1006Lys) c.3926T>A (p.Ile1309Lys) | |
| 13 | g.101081631T>A | CA388650458 | NALCN | c.3781A>T (p.Ile1261Leu) c.3502A>T (p.Ile1168Leu) c.3868A>T (p.Ile1290Leu) c.3694A>T (p.Ile1232Leu) c.3838A>T (p.Ile1280Leu) c.3751A>T (p.Ile1251Leu) c.3559A>T (p.Ile1187Leu) c.3334A>T (p.Ile1112Leu) c.3016A>T (p.Ile1006Leu) c.3925A>T (p.Ile1309Leu) | |
| 13 | g.101081631T>C | CA388650460 | NALCN | c.3781A>G (p.Ile1261Val) c.3502A>G (p.Ile1168Val) c.3868A>G (p.Ile1290Val) c.3694A>G (p.Ile1232Val) c.3838A>G (p.Ile1280Val) c.3751A>G (p.Ile1251Val) c.3559A>G (p.Ile1187Val) c.3334A>G (p.Ile1112Val) c.3016A>G (p.Ile1006Val) c.3925A>G (p.Ile1309Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101081631T>G | CA388650461 | NALCN | c.3781A>C (p.Ile1261Leu) c.3502A>C (p.Ile1168Leu) c.3868A>C (p.Ile1290Leu) c.3694A>C (p.Ile1232Leu) c.3838A>C (p.Ile1280Leu) c.3751A>C (p.Ile1251Leu) c.3559A>C (p.Ile1187Leu) c.3334A>C (p.Ile1112Leu) c.3016A>C (p.Ile1006Leu) c.3925A>C (p.Ile1309Leu) | |
| 13 | g.101081631T= | CA2114388866 | NALCN | c.3781A= (p.Ile1261=) c.3502A= (p.Ile1168=) c.3868A= (p.Ile1290=) c.3694A= (p.Ile1232=) c.3838A= (p.Ile1280=) c.3751A= (p.Ile1251=) c.3559A= (p.Ile1187=) c.3334A= (p.Ile1112=) c.3016A= (p.Ile1006=) c.3925A= (p.Ile1309=) | |
| 13 | g.101081632G>A | CA484552387 | NALCN | c.3780C>T (p.Ile1260=) c.3501C>T (p.Ile1167=) c.3867C>T (p.Ile1289=) c.3693C>T (p.Ile1231=) c.3837C>T (p.Ile1279=) c.3750C>T (p.Ile1250=) c.3558C>T (p.Ile1186=) c.3333C>T (p.Ile1111=) c.3015C>T (p.Ile1005=) c.3924C>T (p.Ile1308=) | |
| 13 | g.101081632G>C | CA388650463 | NALCN | c.3780C>G (p.Ile1260Met) c.3501C>G (p.Ile1167Met) c.3867C>G (p.Ile1289Met) c.3693C>G (p.Ile1231Met) c.3837C>G (p.Ile1279Met) c.3750C>G (p.Ile1250Met) c.3558C>G (p.Ile1186Met) c.3333C>G (p.Ile1111Met) c.3015C>G (p.Ile1005Met) c.3924C>G (p.Ile1308Met) | |
| 13 | g.101081632G>T | CA484552392 | NALCN | c.3780C>A (p.Ile1260=) c.3501C>A (p.Ile1167=) c.3867C>A (p.Ile1289=) c.3693C>A (p.Ile1231=) c.3837C>A (p.Ile1279=) c.3750C>A (p.Ile1250=) c.3558C>A (p.Ile1186=) c.3333C>A (p.Ile1111=) c.3015C>A (p.Ile1005=) c.3924C>A (p.Ile1308=) | |
| 13 | g.101081633A= | CA2114388867 | NALCN | c.3779T= (p.Ile1260=) c.3500T= (p.Ile1167=) c.3866T= (p.Ile1289=) c.3692T= (p.Ile1231=) c.3836T= (p.Ile1279=) c.3749T= (p.Ile1250=) c.3557T= (p.Ile1186=) c.3332T= (p.Ile1111=) c.3014T= (p.Ile1005=) c.3923T= (p.Ile1308=) | |
| 13 | g.101081633A>C | CA388650467 | NALCN | c.3779T>G (p.Ile1260Ser) c.3500T>G (p.Ile1167Ser) c.3866T>G (p.Ile1289Ser) c.3692T>G (p.Ile1231Ser) c.3836T>G (p.Ile1279Ser) c.3749T>G (p.Ile1250Ser) c.3557T>G (p.Ile1186Ser) c.3332T>G (p.Ile1111Ser) c.3014T>G (p.Ile1005Ser) c.3923T>G (p.Ile1308Ser) | |
| 13 | g.101081633A>G | CA388650465 | NALCN | c.3779T>C (p.Ile1260Thr) c.3500T>C (p.Ile1167Thr) c.3866T>C (p.Ile1289Thr) c.3692T>C (p.Ile1231Thr) c.3836T>C (p.Ile1279Thr) c.3749T>C (p.Ile1250Thr) c.3557T>C (p.Ile1186Thr) c.3332T>C (p.Ile1111Thr) c.3014T>C (p.Ile1005Thr) c.3923T>C (p.Ile1308Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101081633A>T | CA7035293 | NALCN | c.3779T>A (p.Ile1260Asn) c.3500T>A (p.Ile1167Asn) c.3866T>A (p.Ile1289Asn) c.3692T>A (p.Ile1231Asn) c.3836T>A (p.Ile1279Asn) c.3749T>A (p.Ile1250Asn) c.3557T>A (p.Ile1186Asn) c.3332T>A (p.Ile1111Asn) c.3014T>A (p.Ile1005Asn) c.3923T>A (p.Ile1308Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081634T>A | CA388650469 | NALCN | c.3778A>T (p.Ile1260Phe) c.3499A>T (p.Ile1167Phe) c.3865A>T (p.Ile1289Phe) c.3691A>T (p.Ile1231Phe) c.3835A>T (p.Ile1279Phe) c.3748A>T (p.Ile1250Phe) c.3556A>T (p.Ile1186Phe) c.3331A>T (p.Ile1111Phe) c.3013A>T (p.Ile1005Phe) c.3922A>T (p.Ile1308Phe) | gnomAD v4 |
| 13 | g.101081634T>C | CA388650470 | NALCN | c.3778A>G (p.Ile1260Val) c.3499A>G (p.Ile1167Val) c.3865A>G (p.Ile1289Val) c.3691A>G (p.Ile1231Val) c.3835A>G (p.Ile1279Val) c.3748A>G (p.Ile1250Val) c.3556A>G (p.Ile1186Val) c.3331A>G (p.Ile1111Val) c.3013A>G (p.Ile1005Val) c.3922A>G (p.Ile1308Val) | gnomAD v4 |
| 13 | g.101081634T>G | CA388650472 | NALCN | c.3778A>C (p.Ile1260Leu) c.3499A>C (p.Ile1167Leu) c.3865A>C (p.Ile1289Leu) c.3691A>C (p.Ile1231Leu) c.3835A>C (p.Ile1279Leu) c.3748A>C (p.Ile1250Leu) c.3556A>C (p.Ile1186Leu) c.3331A>C (p.Ile1111Leu) c.3013A>C (p.Ile1005Leu) c.3922A>C (p.Ile1308Leu) | |
| 13 | g.101081635C>A | CA388650473 | NALCN | c.3777G>T (p.Lys1259Asn) c.3498G>T (p.Lys1166Asn) c.3864G>T (p.Lys1288Asn) c.3690G>T (p.Lys1230Asn) c.3834G>T (p.Lys1278Asn) c.3747G>T (p.Lys1249Asn) c.3555G>T (p.Lys1185Asn) c.3330G>T (p.Lys1110Asn) c.3012G>T (p.Lys1004Asn) c.3921G>T (p.Lys1307Asn) | |
| 13 | g.101081635C>G | CA388650475 | NALCN | c.3777G>C (p.Lys1259Asn) c.3498G>C (p.Lys1166Asn) c.3864G>C (p.Lys1288Asn) c.3690G>C (p.Lys1230Asn) c.3834G>C (p.Lys1278Asn) c.3747G>C (p.Lys1249Asn) c.3555G>C (p.Lys1185Asn) c.3330G>C (p.Lys1110Asn) c.3012G>C (p.Lys1004Asn) c.3921G>C (p.Lys1307Asn) | |
| 13 | g.101081635C>T | CA484552406 | NALCN | c.3777G>A (p.Lys1259=) c.3498G>A (p.Lys1166=) c.3864G>A (p.Lys1288=) c.3690G>A (p.Lys1230=) c.3834G>A (p.Lys1278=) c.3747G>A (p.Lys1249=) c.3555G>A (p.Lys1185=) c.3330G>A (p.Lys1110=) c.3012G>A (p.Lys1004=) c.3921G>A (p.Lys1307=) | |
| 13 | g.101081636T>A | CA388650477 | NALCN | c.3776A>T (p.Lys1259Met) c.3497A>T (p.Lys1166Met) c.3863A>T (p.Lys1288Met) c.3689A>T (p.Lys1230Met) c.3833A>T (p.Lys1278Met) c.3746A>T (p.Lys1249Met) c.3554A>T (p.Lys1185Met) c.3329A>T (p.Lys1110Met) c.3011A>T (p.Lys1004Met) c.3920A>T (p.Lys1307Met) | |
| 13 | g.101081636T>C | CA388650478 | NALCN | c.3776A>G (p.Lys1259Arg) c.3497A>G (p.Lys1166Arg) c.3863A>G (p.Lys1288Arg) c.3689A>G (p.Lys1230Arg) c.3833A>G (p.Lys1278Arg) c.3746A>G (p.Lys1249Arg) c.3554A>G (p.Lys1185Arg) c.3329A>G (p.Lys1110Arg) c.3011A>G (p.Lys1004Arg) c.3920A>G (p.Lys1307Arg) | |
| 13 | g.101081636T>G | CA388650480 | NALCN | c.3776A>C (p.Lys1259Thr) c.3497A>C (p.Lys1166Thr) c.3863A>C (p.Lys1288Thr) c.3689A>C (p.Lys1230Thr) c.3833A>C (p.Lys1278Thr) c.3746A>C (p.Lys1249Thr) c.3554A>C (p.Lys1185Thr) c.3329A>C (p.Lys1110Thr) c.3011A>C (p.Lys1004Thr) c.3920A>C (p.Lys1307Thr) | |
| 13 | g.101081637T>A | CA388650482 | NALCN | c.3775A>T (p.Lys1259Ter) c.3496A>T (p.Lys1166Ter) c.3862A>T (p.Lys1288Ter) c.3688A>T (p.Lys1230Ter) c.3832A>T (p.Lys1278Ter) c.3745A>T (p.Lys1249Ter) c.3553A>T (p.Lys1185Ter) c.3328A>T (p.Lys1110Ter) c.3010A>T (p.Lys1004Ter) c.3919A>T (p.Lys1307Ter) | COSMIC |
| 13 | g.101081637T>C | CA388650483 | NALCN | c.3775A>G (p.Lys1259Glu) c.3496A>G (p.Lys1166Glu) c.3862A>G (p.Lys1288Glu) c.3688A>G (p.Lys1230Glu) c.3832A>G (p.Lys1278Glu) c.3745A>G (p.Lys1249Glu) c.3553A>G (p.Lys1185Glu) c.3328A>G (p.Lys1110Glu) c.3010A>G (p.Lys1004Glu) c.3919A>G (p.Lys1307Glu) | |
| 13 | g.101081637T>G | CA388650484 | NALCN | c.3775A>C (p.Lys1259Gln) c.3496A>C (p.Lys1166Gln) c.3862A>C (p.Lys1288Gln) c.3688A>C (p.Lys1230Gln) c.3832A>C (p.Lys1278Gln) c.3745A>C (p.Lys1249Gln) c.3553A>C (p.Lys1185Gln) c.3328A>C (p.Lys1110Gln) c.3010A>C (p.Lys1004Gln) c.3919A>C (p.Lys1307Gln) | |
| 13 | g.101081638C>A | CA388650490 | NALCN | c.3774G>T (p.Met1258Ile) c.3495G>T (p.Met1165Ile) c.3861G>T (p.Met1287Ile) c.3687G>T (p.Met1229Ile) c.3831G>T (p.Met1277Ile) c.3744G>T (p.Met1248Ile) c.3552G>T (p.Met1184Ile) c.3327G>T (p.Met1109Ile) c.3009G>T (p.Met1003Ile) c.3918G>T (p.Met1306Ile) | |
| 13 | g.101081638C>G | CA388650488 | NALCN | c.3774G>C (p.Met1258Ile) c.3495G>C (p.Met1165Ile) c.3861G>C (p.Met1287Ile) c.3687G>C (p.Met1229Ile) c.3831G>C (p.Met1277Ile) c.3744G>C (p.Met1248Ile) c.3552G>C (p.Met1184Ile) c.3327G>C (p.Met1109Ile) c.3009G>C (p.Met1003Ile) c.3918G>C (p.Met1306Ile) | |
| 13 | g.101081638C>T | CA388650487 | NALCN | c.3774G>A (p.Met1258Ile) c.3495G>A (p.Met1165Ile) c.3861G>A (p.Met1287Ile) c.3687G>A (p.Met1229Ile) c.3831G>A (p.Met1277Ile) c.3744G>A (p.Met1248Ile) c.3552G>A (p.Met1184Ile) c.3327G>A (p.Met1109Ile) c.3009G>A (p.Met1003Ile) c.3918G>A (p.Met1306Ile) | |
| 13 | g.101081639A= | CA2114388868 | NALCN | c.3773T= (p.Met1258=) c.3494T= (p.Met1165=) c.3860T= (p.Met1287=) c.3686T= (p.Met1229=) c.3830T= (p.Met1277=) c.3743T= (p.Met1248=) c.3551T= (p.Met1184=) c.3326T= (p.Met1109=) c.3008T= (p.Met1003=) c.3917T= (p.Met1306=) | |
| 13 | g.101081639A>C | CA388650491 | NALCN | c.3773T>G (p.Met1258Arg) c.3494T>G (p.Met1165Arg) c.3860T>G (p.Met1287Arg) c.3686T>G (p.Met1229Arg) c.3830T>G (p.Met1277Arg) c.3743T>G (p.Met1248Arg) c.3551T>G (p.Met1184Arg) c.3326T>G (p.Met1109Arg) c.3008T>G (p.Met1003Arg) c.3917T>G (p.Met1306Arg) | dbSNP COSMIC |
| 13 | g.101081639A>G | CA388650492 | NALCN | c.3773T>C (p.Met1258Thr) c.3494T>C (p.Met1165Thr) c.3860T>C (p.Met1287Thr) c.3686T>C (p.Met1229Thr) c.3830T>C (p.Met1277Thr) c.3743T>C (p.Met1248Thr) c.3551T>C (p.Met1184Thr) c.3326T>C (p.Met1109Thr) c.3008T>C (p.Met1003Thr) c.3917T>C (p.Met1306Thr) | gnomAD v4 |
| 13 | g.101081639A>T | CA388650493 | NALCN | c.3773T>A (p.Met1258Lys) c.3494T>A (p.Met1165Lys) c.3860T>A (p.Met1287Lys) c.3686T>A (p.Met1229Lys) c.3830T>A (p.Met1277Lys) c.3743T>A (p.Met1248Lys) c.3551T>A (p.Met1184Lys) c.3326T>A (p.Met1109Lys) c.3008T>A (p.Met1003Lys) c.3917T>A (p.Met1306Lys) | |
| 13 | g.101081640T>A | CA388650495 | NALCN | c.3772A>T (p.Met1258Leu) c.3493A>T (p.Met1165Leu) c.3859A>T (p.Met1287Leu) c.3685A>T (p.Met1229Leu) c.3829A>T (p.Met1277Leu) c.3742A>T (p.Met1248Leu) c.3550A>T (p.Met1184Leu) c.3325A>T (p.Met1109Leu) c.3007A>T (p.Met1003Leu) c.3916A>T (p.Met1306Leu) | |
| 13 | g.101081640T>C | CA388650496 | NALCN | c.3772A>G (p.Met1258Val) c.3493A>G (p.Met1165Val) c.3859A>G (p.Met1287Val) c.3685A>G (p.Met1229Val) c.3829A>G (p.Met1277Val) c.3742A>G (p.Met1248Val) c.3550A>G (p.Met1184Val) c.3325A>G (p.Met1109Val) c.3007A>G (p.Met1003Val) c.3916A>G (p.Met1306Val) | gnomAD v4 |
| 13 | g.101081640T>G | CA388650498 | NALCN | c.3772A>C (p.Met1258Leu) c.3493A>C (p.Met1165Leu) c.3859A>C (p.Met1287Leu) c.3685A>C (p.Met1229Leu) c.3829A>C (p.Met1277Leu) c.3742A>C (p.Met1248Leu) c.3550A>C (p.Met1184Leu) c.3325A>C (p.Met1109Leu) c.3007A>C (p.Met1003Leu) c.3916A>C (p.Met1306Leu) | |
| 13 | g.101081641G>A | CA7035294 | NALCN | c.3771C>T (p.Thr1257=) c.3492C>T (p.Thr1164=) c.3858C>T (p.Thr1286=) c.3684C>T (p.Thr1228=) c.3828C>T (p.Thr1276=) c.3741C>T (p.Thr1247=) c.3549C>T (p.Thr1183=) c.3324C>T (p.Thr1108=) c.3006C>T (p.Thr1002=) c.3915C>T (p.Thr1305=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081641G>C | CA484552439 | NALCN | c.3771C>G (p.Thr1257=) c.3492C>G (p.Thr1164=) c.3858C>G (p.Thr1286=) c.3684C>G (p.Thr1228=) c.3828C>G (p.Thr1276=) c.3741C>G (p.Thr1247=) c.3549C>G (p.Thr1183=) c.3324C>G (p.Thr1108=) c.3006C>G (p.Thr1002=) c.3915C>G (p.Thr1305=) | |
| 13 | g.101081641G= | CA2114388869 | NALCN | c.3771C= (p.Thr1257=) c.3492C= (p.Thr1164=) c.3858C= (p.Thr1286=) c.3684C= (p.Thr1228=) c.3828C= (p.Thr1276=) c.3741C= (p.Thr1247=) c.3549C= (p.Thr1183=) c.3324C= (p.Thr1108=) c.3006C= (p.Thr1002=) c.3915C= (p.Thr1305=) | |
| 13 | g.101081641G>T | CA484552442 | NALCN | c.3771C>A (p.Thr1257=) c.3492C>A (p.Thr1164=) c.3858C>A (p.Thr1286=) c.3684C>A (p.Thr1228=) c.3828C>A (p.Thr1276=) c.3741C>A (p.Thr1247=) c.3549C>A (p.Thr1183=) c.3324C>A (p.Thr1108=) c.3006C>A (p.Thr1002=) c.3915C>A (p.Thr1305=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101081642G>A | CA388650500 | NALCN | c.3770C>T (p.Thr1257Ile) c.3491C>T (p.Thr1164Ile) c.3857C>T (p.Thr1286Ile) c.3683C>T (p.Thr1228Ile) c.3827C>T (p.Thr1276Ile) c.3740C>T (p.Thr1247Ile) c.3548C>T (p.Thr1183Ile) c.3323C>T (p.Thr1108Ile) c.3005C>T (p.Thr1002Ile) c.3914C>T (p.Thr1305Ile) | gnomAD v4 |
| 13 | g.101081642G>C | CA388650501 | NALCN | c.3770C>G (p.Thr1257Ser) c.3491C>G (p.Thr1164Ser) c.3857C>G (p.Thr1286Ser) c.3683C>G (p.Thr1228Ser) c.3827C>G (p.Thr1276Ser) c.3740C>G (p.Thr1247Ser) c.3548C>G (p.Thr1183Ser) c.3323C>G (p.Thr1108Ser) c.3005C>G (p.Thr1002Ser) c.3914C>G (p.Thr1305Ser) | |
| 13 | g.101081642G>T | CA388650503 | NALCN | c.3770C>A (p.Thr1257Asn) c.3491C>A (p.Thr1164Asn) c.3857C>A (p.Thr1286Asn) c.3683C>A (p.Thr1228Asn) c.3827C>A (p.Thr1276Asn) c.3740C>A (p.Thr1247Asn) c.3548C>A (p.Thr1183Asn) c.3323C>A (p.Thr1108Asn) c.3005C>A (p.Thr1002Asn) c.3914C>A (p.Thr1305Asn) | |
| 13 | g.101081643T>A | CA388650504 | NALCN | c.3769A>T (p.Thr1257Ser) c.3490A>T (p.Thr1164Ser) c.3856A>T (p.Thr1286Ser) c.3682A>T (p.Thr1228Ser) c.3826A>T (p.Thr1276Ser) c.3739A>T (p.Thr1247Ser) c.3547A>T (p.Thr1183Ser) c.3322A>T (p.Thr1108Ser) c.3004A>T (p.Thr1002Ser) c.3913A>T (p.Thr1305Ser) | |
| 13 | g.101081643T>C | CA388650506 | NALCN | c.3769A>G (p.Thr1257Ala) c.3490A>G (p.Thr1164Ala) c.3856A>G (p.Thr1286Ala) c.3682A>G (p.Thr1228Ala) c.3826A>G (p.Thr1276Ala) c.3739A>G (p.Thr1247Ala) c.3547A>G (p.Thr1183Ala) c.3322A>G (p.Thr1108Ala) c.3004A>G (p.Thr1002Ala) c.3913A>G (p.Thr1305Ala) | gnomAD v4 |
| 13 | g.101081643T>G | CA388650508 | NALCN | c.3769A>C (p.Thr1257Pro) c.3490A>C (p.Thr1164Pro) c.3856A>C (p.Thr1286Pro) c.3682A>C (p.Thr1228Pro) c.3826A>C (p.Thr1276Pro) c.3739A>C (p.Thr1247Pro) c.3547A>C (p.Thr1183Pro) c.3322A>C (p.Thr1108Pro) c.3004A>C (p.Thr1002Pro) c.3913A>C (p.Thr1305Pro) | |
| 13 | g.101081644A>C | CA484552462 | NALCN | c.3768T>G (p.Val1256=) c.3489T>G (p.Val1163=) c.3855T>G (p.Val1285=) c.3681T>G (p.Val1227=) c.3825T>G (p.Val1275=) c.3738T>G (p.Val1246=) c.3546T>G (p.Val1182=) c.3321T>G (p.Val1107=) c.3003T>G (p.Val1001=) c.3912T>G (p.Val1304=) | |
| 13 | g.101081644A>G | CA484552456 | NALCN | c.3768T>C (p.Val1256=) c.3489T>C (p.Val1163=) c.3855T>C (p.Val1285=) c.3681T>C (p.Val1227=) c.3825T>C (p.Val1275=) c.3738T>C (p.Val1246=) c.3546T>C (p.Val1182=) c.3321T>C (p.Val1107=) c.3003T>C (p.Val1001=) c.3912T>C (p.Val1304=) | |
| 13 | g.101081644A>T | CA484552459 | NALCN | c.3768T>A (p.Val1256=) c.3489T>A (p.Val1163=) c.3855T>A (p.Val1285=) c.3681T>A (p.Val1227=) c.3825T>A (p.Val1275=) c.3738T>A (p.Val1246=) c.3546T>A (p.Val1182=) c.3321T>A (p.Val1107=) c.3003T>A (p.Val1001=) c.3912T>A (p.Val1304=) | |
| 13 | g.101081645A>C | CA388650512 | NALCN | c.3767T>G (p.Val1256Gly) c.3488T>G (p.Val1163Gly) c.3854T>G (p.Val1285Gly) c.3680T>G (p.Val1227Gly) c.3824T>G (p.Val1275Gly) c.3737T>G (p.Val1246Gly) c.3545T>G (p.Val1182Gly) c.3320T>G (p.Val1107Gly) c.3002T>G (p.Val1001Gly) c.3911T>G (p.Val1304Gly) | |
| 13 | g.101081645A>G | CA388650509 | NALCN | c.3767T>C (p.Val1256Ala) c.3488T>C (p.Val1163Ala) c.3854T>C (p.Val1285Ala) c.3680T>C (p.Val1227Ala) c.3824T>C (p.Val1275Ala) c.3737T>C (p.Val1246Ala) c.3545T>C (p.Val1182Ala) c.3320T>C (p.Val1107Ala) c.3002T>C (p.Val1001Ala) c.3911T>C (p.Val1304Ala) | |
| 13 | g.101081645A>T | CA388650510 | NALCN | c.3767T>A (p.Val1256Asp) c.3488T>A (p.Val1163Asp) c.3854T>A (p.Val1285Asp) c.3680T>A (p.Val1227Asp) c.3824T>A (p.Val1275Asp) c.3737T>A (p.Val1246Asp) c.3545T>A (p.Val1182Asp) c.3320T>A (p.Val1107Asp) c.3002T>A (p.Val1001Asp) c.3911T>A (p.Val1304Asp) | |
| 13 | g.101081646C>A | CA388650514 | NALCN | c.3766G>T (p.Val1256Phe) c.3487G>T (p.Val1163Phe) c.3853G>T (p.Val1285Phe) c.3679G>T (p.Val1227Phe) c.3823G>T (p.Val1275Phe) c.3736G>T (p.Val1246Phe) c.3544G>T (p.Val1182Phe) c.3319G>T (p.Val1107Phe) c.3001G>T (p.Val1001Phe) c.3910G>T (p.Val1304Phe) | |
| 13 | g.101081646C>G | CA388650515 | NALCN | c.3766G>C (p.Val1256Leu) c.3487G>C (p.Val1163Leu) c.3853G>C (p.Val1285Leu) c.3679G>C (p.Val1227Leu) c.3823G>C (p.Val1275Leu) c.3736G>C (p.Val1246Leu) c.3544G>C (p.Val1182Leu) c.3319G>C (p.Val1107Leu) c.3001G>C (p.Val1001Leu) c.3910G>C (p.Val1304Leu) | |
| 13 | g.101081646C>T | CA388650517 | NALCN | c.3766G>A (p.Val1256Ile) c.3487G>A (p.Val1163Ile) c.3853G>A (p.Val1285Ile) c.3679G>A (p.Val1227Ile) c.3823G>A (p.Val1275Ile) c.3736G>A (p.Val1246Ile) c.3544G>A (p.Val1182Ile) c.3319G>A (p.Val1107Ile) c.3001G>A (p.Val1001Ile) c.3910G>A (p.Val1304Ile) | |
| 13 | g.101081647C>A | CA388650519 | NALCN | c.3766-1G>T (n.3766-1G>T) c.3487-1G>T (n.3487-1G>T) c.3853-1G>T (n.3853-1G>T) c.3679-1G>T (n.3679-1G>T) c.3823-1G>T (n.3823-1G>T) c.3736-1G>T (n.3736-1G>T) c.3544-1G>T (n.3544-1G>T) c.3319-1G>T (n.3319-1G>T) c.3001-1G>T (n.3001-1G>T) c.3910-1G>T (n.3910-1G>T) | |
| 13 | g.101081647C>G | CA388650521 | NALCN | c.3766-1G>C (n.3766-1G>C) c.3487-1G>C (n.3487-1G>C) c.3853-1G>C (n.3853-1G>C) c.3679-1G>C (n.3679-1G>C) c.3823-1G>C (n.3823-1G>C) c.3736-1G>C (n.3736-1G>C) c.3544-1G>C (n.3544-1G>C) c.3319-1G>C (n.3319-1G>C) c.3001-1G>C (n.3001-1G>C) c.3910-1G>C (n.3910-1G>C) | |
| 13 | g.101081647C>T | CA388650522 | NALCN | c.3766-1G>A (n.3766-1G>A) c.3487-1G>A (n.3487-1G>A) c.3853-1G>A (n.3853-1G>A) c.3679-1G>A (n.3679-1G>A) c.3823-1G>A (n.3823-1G>A) c.3736-1G>A (n.3736-1G>A) c.3544-1G>A (n.3544-1G>A) c.3319-1G>A (n.3319-1G>A) c.3001-1G>A (n.3001-1G>A) c.3910-1G>A (n.3910-1G>A) | |
| 13 | g.101081648T>A | CA388650524 | NALCN | c.3766-2A>T (n.3766-2A>T) c.3487-2A>T (n.3487-2A>T) c.3853-2A>T (n.3853-2A>T) c.3679-2A>T (n.3679-2A>T) c.3823-2A>T (n.3823-2A>T) c.3736-2A>T (n.3736-2A>T) c.3544-2A>T (n.3544-2A>T) c.3319-2A>T (n.3319-2A>T) c.3001-2A>T (n.3001-2A>T) c.3910-2A>T (n.3910-2A>T) | |
| 13 | g.101081648T>C | CA388650526 | NALCN | c.3766-2A>G (n.3766-2A>G) c.3487-2A>G (n.3487-2A>G) c.3853-2A>G (n.3853-2A>G) c.3679-2A>G (n.3679-2A>G) c.3823-2A>G (n.3823-2A>G) c.3736-2A>G (n.3736-2A>G) c.3544-2A>G (n.3544-2A>G) c.3319-2A>G (n.3319-2A>G) c.3001-2A>G (n.3001-2A>G) c.3910-2A>G (n.3910-2A>G) | |
| 13 | g.101081648T>G | CA388650528 | NALCN | c.3766-2A>C (n.3766-2A>C) c.3487-2A>C (n.3487-2A>C) c.3853-2A>C (n.3853-2A>C) c.3679-2A>C (n.3679-2A>C) c.3823-2A>C (n.3823-2A>C) c.3736-2A>C (n.3736-2A>C) c.3544-2A>C (n.3544-2A>C) c.3319-2A>C (n.3319-2A>C) c.3001-2A>C (n.3001-2A>C) c.3910-2A>C (n.3910-2A>C) | |
| 13 | g.101081651A= | CA2114388870 | NALCN | c.3766-5T= (n.3766-5T=) c.3487-5T= (n.3487-5T=) c.3853-5T= (n.3853-5T=) c.3679-5T= (n.3679-5T=) c.3823-5T= (n.3823-5T=) c.3736-5T= (n.3736-5T=) c.3544-5T= (n.3544-5T=) c.3319-5T= (n.3319-5T=) c.3001-5T= (n.3001-5T=) c.3910-5T= (n.3910-5T=) | |
| 13 | g.101081651A>C | CA7035295 | NALCN | c.3766-5T>G (n.3766-5T>G) c.3487-5T>G (n.3487-5T>G) c.3853-5T>G (n.3853-5T>G) c.3679-5T>G (n.3679-5T>G) c.3823-5T>G (n.3823-5T>G) c.3736-5T>G (n.3736-5T>G) c.3544-5T>G (n.3544-5T>G) c.3319-5T>G (n.3319-5T>G) c.3001-5T>G (n.3001-5T>G) c.3910-5T>G (n.3910-5T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081651A>G | CA2114388871 | NALCN | c.3766-5T>C (n.3766-5T>C) c.3487-5T>C (n.3487-5T>C) c.3853-5T>C (n.3853-5T>C) c.3679-5T>C (n.3679-5T>C) c.3823-5T>C (n.3823-5T>C) c.3736-5T>C (n.3736-5T>C) c.3544-5T>C (n.3544-5T>C) c.3319-5T>C (n.3319-5T>C) c.3001-5T>C (n.3001-5T>C) c.3910-5T>C (n.3910-5T>C) | dbSNP gnomAD v4 |
| 13 | g.101081652G>A | CA2114388873 | NALCN | c.3766-6C>T (n.3766-6C>T) c.3487-6C>T (n.3487-6C>T) c.3853-6C>T (n.3853-6C>T) c.3679-6C>T (n.3679-6C>T) c.3823-6C>T (n.3823-6C>T) c.3736-6C>T (n.3736-6C>T) c.3544-6C>T (n.3544-6C>T) c.3319-6C>T (n.3319-6C>T) c.3001-6C>T (n.3001-6C>T) c.3910-6C>T (n.3910-6C>T) | dbSNP |
| 13 | g.101081652G= | CA2114388872 | NALCN | c.3766-6C= (n.3766-6C=) c.3487-6C= (n.3487-6C=) c.3853-6C= (n.3853-6C=) c.3679-6C= (n.3679-6C=) c.3823-6C= (n.3823-6C=) c.3736-6C= (n.3736-6C=) c.3544-6C= (n.3544-6C=) c.3319-6C= (n.3319-6C=) c.3001-6C= (n.3001-6C=) c.3910-6C= (n.3910-6C=) | |
| 13 | g.101081654A= | CA2114388874 | NALCN | c.3766-8T= (n.3766-8T=) c.3487-8T= (n.3487-8T=) c.3853-8T= (n.3853-8T=) c.3679-8T= (n.3679-8T=) c.3823-8T= (n.3823-8T=) c.3736-8T= (n.3736-8T=) c.3544-8T= (n.3544-8T=) c.3319-8T= (n.3319-8T=) c.3001-8T= (n.3001-8T=) c.3910-8T= (n.3910-8T=) | |
| 13 | g.101081654A>G | CA255407172 | NALCN | c.3766-8T>C (n.3766-8T>C) c.3487-8T>C (n.3487-8T>C) c.3853-8T>C (n.3853-8T>C) c.3679-8T>C (n.3679-8T>C) c.3823-8T>C (n.3823-8T>C) c.3736-8T>C (n.3736-8T>C) c.3544-8T>C (n.3544-8T>C) c.3319-8T>C (n.3319-8T>C) c.3001-8T>C (n.3001-8T>C) c.3910-8T>C (n.3910-8T>C) | dbSNP |
| 13 | g.101081664A>C | CA2728869175 | NALCN | c.3766-18T>G (n.3766-18T>G) c.3487-18T>G (n.3487-18T>G) c.3853-18T>G (n.3853-18T>G) c.3679-18T>G (n.3679-18T>G) c.3823-18T>G (n.3823-18T>G) c.3736-18T>G (n.3736-18T>G) c.3544-18T>G (n.3544-18T>G) c.3319-18T>G (n.3319-18T>G) c.3001-18T>G (n.3001-18T>G) c.3910-18T>G (n.3910-18T>G) | dbSNP |
| 13 | g.101081665A= | CA2114388875 | NALCN | c.3766-19T= (n.3766-19T=) c.3487-19T= (n.3487-19T=) c.3853-19T= (n.3853-19T=) c.3679-19T= (n.3679-19T=) c.3823-19T= (n.3823-19T=) c.3736-19T= (n.3736-19T=) c.3544-19T= (n.3544-19T=) c.3319-19T= (n.3319-19T=) c.3001-19T= (n.3001-19T=) c.3910-19T= (n.3910-19T=) | |
| 13 | g.101081665A>G | CA255407173 | NALCN | c.3766-19T>C (n.3766-19T>C) c.3487-19T>C (n.3487-19T>C) c.3853-19T>C (n.3853-19T>C) c.3679-19T>C (n.3679-19T>C) c.3823-19T>C (n.3823-19T>C) c.3736-19T>C (n.3736-19T>C) c.3544-19T>C (n.3544-19T>C) c.3319-19T>C (n.3319-19T>C) c.3001-19T>C (n.3001-19T>C) c.3910-19T>C (n.3910-19T>C) | dbSNP |
| 13 | g.101081668A>C | CA2623578308 | NALCN | c.3766-22T>G (n.3766-22T>G) c.3487-22T>G (n.3487-22T>G) c.3853-22T>G (n.3853-22T>G) c.3679-22T>G (n.3679-22T>G) c.3823-22T>G (n.3823-22T>G) c.3736-22T>G (n.3736-22T>G) c.3544-22T>G (n.3544-22T>G) c.3319-22T>G (n.3319-22T>G) c.3001-22T>G (n.3001-22T>G) c.3910-22T>G (n.3910-22T>G) | gnomAD v4 |
| 13 | g.101081671_101081675delinsTAAAC | CA2114388876 | NALCN | c.3766-29_3766-25delinsGTTTA (n.3766-29_3766-25delinsGTTTA) c.3487-29_3487-25delinsGTTTA (n.3487-29_3487-25delinsGTTTA) c.3853-29_3853-25delinsGTTTA (n.3853-29_3853-25delinsGTTTA) c.3679-29_3679-25delinsGTTTA (n.3679-29_3679-25delinsGTTTA) c.3823-29_3823-25delinsGTTTA (n.3823-29_3823-25delinsGTTTA) c.3736-29_3736-25delinsGTTTA (n.3736-29_3736-25delinsGTTTA) c.3544-29_3544-25delinsGTTTA (n.3544-29_3544-25delinsGTTTA) c.3319-29_3319-25delinsGTTTA (n.3319-29_3319-25delinsGTTTA) c.3001-29_3001-25delinsGTTTA (n.3001-29_3001-25delinsGTTTA) c.3910-29_3910-25delinsGTTTA (n.3910-29_3910-25delinsGTTTA) | |
| 13 | g.101081673_101081676del | CA7035296 | NALCN | c.3766-29_3766-26del (n.3766-29_3766-26del) c.3487-29_3487-26del (n.3487-29_3487-26del) c.3853-29_3853-26del (n.3853-29_3853-26del) c.3679-29_3679-26del (n.3679-29_3679-26del) c.3823-29_3823-26del (n.3823-29_3823-26del) c.3736-29_3736-26del (n.3736-29_3736-26del) c.3544-29_3544-26del (n.3544-29_3544-26del) c.3319-29_3319-26del (n.3319-29_3319-26del) c.3001-29_3001-26del (n.3001-29_3001-26del) c.3910-29_3910-26del (n.3910-29_3910-26del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081674A>G | CA2623578309 | NALCN | c.3766-28T>C (n.3766-28T>C) c.3487-28T>C (n.3487-28T>C) c.3853-28T>C (n.3853-28T>C) c.3679-28T>C (n.3679-28T>C) c.3823-28T>C (n.3823-28T>C) c.3736-28T>C (n.3736-28T>C) c.3544-28T>C (n.3544-28T>C) c.3319-28T>C (n.3319-28T>C) c.3001-28T>C (n.3001-28T>C) c.3910-28T>C (n.3910-28T>C) | gnomAD v4 |
| 13 | g.101081675C= | CA2114388878 | NALCN | c.3766-29G= (n.3766-29G=) c.3487-29G= (n.3487-29G=) c.3853-29G= (n.3853-29G=) c.3679-29G= (n.3679-29G=) c.3823-29G= (n.3823-29G=) c.3736-29G= (n.3736-29G=) c.3544-29G= (n.3544-29G=) c.3319-29G= (n.3319-29G=) c.3001-29G= (n.3001-29G=) c.3910-29G= (n.3910-29G=) | |
| 13 | g.101081675C>G | CA7035297 | NALCN | c.3766-29G>C (n.3766-29G>C) c.3487-29G>C (n.3487-29G>C) c.3853-29G>C (n.3853-29G>C) c.3679-29G>C (n.3679-29G>C) c.3823-29G>C (n.3823-29G>C) c.3736-29G>C (n.3736-29G>C) c.3544-29G>C (n.3544-29G>C) c.3319-29G>C (n.3319-29G>C) c.3001-29G>C (n.3001-29G>C) c.3910-29G>C (n.3910-29G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081675_101081679delinsCAGAG | CA2114388877 | NALCN | c.3766-33_3766-29delinsCTCTG (n.3766-33_3766-29delinsCTCTG) c.3487-33_3487-29delinsCTCTG (n.3487-33_3487-29delinsCTCTG) c.3853-33_3853-29delinsCTCTG (n.3853-33_3853-29delinsCTCTG) c.3679-33_3679-29delinsCTCTG (n.3679-33_3679-29delinsCTCTG) c.3823-33_3823-29delinsCTCTG (n.3823-33_3823-29delinsCTCTG) c.3736-33_3736-29delinsCTCTG (n.3736-33_3736-29delinsCTCTG) c.3544-33_3544-29delinsCTCTG (n.3544-33_3544-29delinsCTCTG) c.3319-33_3319-29delinsCTCTG (n.3319-33_3319-29delinsCTCTG) c.3001-33_3001-29delinsCTCTG (n.3001-33_3001-29delinsCTCTG) c.3910-33_3910-29delinsCTCTG (n.3910-33_3910-29delinsCTCTG) | |
| 13 | g.101081676del | CA2575448057 | NALCN | c.3766-30del (n.3766-30del) c.3487-30del (n.3487-30del) c.3853-30del (n.3853-30del) c.3679-30del (n.3679-30del) c.3823-30del (n.3823-30del) c.3736-30del (n.3736-30del) c.3544-30del (n.3544-30del) c.3319-30del (n.3319-30del) c.3001-30del (n.3001-30del) c.3910-30del (n.3910-30del) | gnomAD v4 |
| 13 | g.101081676A>C | CA2575448058 | NALCN | c.3766-30T>G (n.3766-30T>G) c.3487-30T>G (n.3487-30T>G) c.3853-30T>G (n.3853-30T>G) c.3679-30T>G (n.3679-30T>G) c.3823-30T>G (n.3823-30T>G) c.3736-30T>G (n.3736-30T>G) c.3544-30T>G (n.3544-30T>G) c.3319-30T>G (n.3319-30T>G) c.3001-30T>G (n.3001-30T>G) c.3910-30T>G (n.3910-30T>G) | gnomAD v4 |
| 13 | g.101081682_101081683del | CA694238729 | NALCN | c.3766-31_3766-30del (n.3766-31_3766-30del) c.3487-31_3487-30del (n.3487-31_3487-30del) c.3853-31_3853-30del (n.3853-31_3853-30del) c.3679-31_3679-30del (n.3679-31_3679-30del) c.3823-31_3823-30del (n.3823-31_3823-30del) c.3736-31_3736-30del (n.3736-31_3736-30del) c.3544-31_3544-30del (n.3544-31_3544-30del) c.3319-31_3319-30del (n.3319-31_3319-30del) c.3001-31_3001-30del (n.3001-31_3001-30del) c.3910-31_3910-30del (n.3910-31_3910-30del) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101081680_101081683del | CA611945880 | NALCN | c.3766-33_3766-30del (n.3766-33_3766-30del) c.3487-33_3487-30del (n.3487-33_3487-30del) c.3853-33_3853-30del (n.3853-33_3853-30del) c.3679-33_3679-30del (n.3679-33_3679-30del) c.3823-33_3823-30del (n.3823-33_3823-30del) c.3736-33_3736-30del (n.3736-33_3736-30del) c.3544-33_3544-30del (n.3544-33_3544-30del) c.3319-33_3319-30del (n.3319-33_3319-30del) c.3001-33_3001-30del (n.3001-33_3001-30del) c.3910-33_3910-30del (n.3910-33_3910-30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081677G>C | CA2575448059 | NALCN | c.3766-31C>G (n.3766-31C>G) c.3487-31C>G (n.3487-31C>G) c.3853-31C>G (n.3853-31C>G) c.3679-31C>G (n.3679-31C>G) c.3823-31C>G (n.3823-31C>G) c.3736-31C>G (n.3736-31C>G) c.3544-31C>G (n.3544-31C>G) c.3319-31C>G (n.3319-31C>G) c.3001-31C>G (n.3001-31C>G) c.3910-31C>G (n.3910-31C>G) | |
| 13 | g.101081680A>G | CA2528572446 | NALCN | c.3766-34T>C (n.3766-34T>C) c.3487-34T>C (n.3487-34T>C) c.3853-34T>C (n.3853-34T>C) c.3679-34T>C (n.3679-34T>C) c.3823-34T>C (n.3823-34T>C) c.3736-34T>C (n.3736-34T>C) c.3544-34T>C (n.3544-34T>C) c.3319-34T>C (n.3319-34T>C) c.3001-34T>C (n.3001-34T>C) c.3910-34T>C (n.3910-34T>C) | |
| 13 | g.101081681G>A | CA7035299 | NALCN | c.3766-35C>T (n.3766-35C>T) c.3487-35C>T (n.3487-35C>T) c.3853-35C>T (n.3853-35C>T) c.3679-35C>T (n.3679-35C>T) c.3823-35C>T (n.3823-35C>T) c.3736-35C>T (n.3736-35C>T) c.3544-35C>T (n.3544-35C>T) c.3319-35C>T (n.3319-35C>T) c.3001-35C>T (n.3001-35C>T) c.3910-35C>T (n.3910-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081681G>C | CA7035298 | NALCN | c.3766-35C>G (n.3766-35C>G) c.3487-35C>G (n.3487-35C>G) c.3853-35C>G (n.3853-35C>G) c.3679-35C>G (n.3679-35C>G) c.3823-35C>G (n.3823-35C>G) c.3736-35C>G (n.3736-35C>G) c.3544-35C>G (n.3544-35C>G) c.3319-35C>G (n.3319-35C>G) c.3001-35C>G (n.3001-35C>G) c.3910-35C>G (n.3910-35C>G) | dbSNP ExAC gnomAD v2 |
| 13 | g.101081681G= | CA2114388879 | NALCN | c.3766-35C= (n.3766-35C=) c.3487-35C= (n.3487-35C=) c.3853-35C= (n.3853-35C=) c.3679-35C= (n.3679-35C=) c.3823-35C= (n.3823-35C=) c.3736-35C= (n.3736-35C=) c.3544-35C= (n.3544-35C=) c.3319-35C= (n.3319-35C=) c.3001-35C= (n.3001-35C=) c.3910-35C= (n.3910-35C=) | |
| 13 | g.101081683G>C | CA2623578310 | NALCN | c.3766-37C>G (n.3766-37C>G) c.3487-37C>G (n.3487-37C>G) c.3853-37C>G (n.3853-37C>G) c.3679-37C>G (n.3679-37C>G) c.3823-37C>G (n.3823-37C>G) c.3736-37C>G (n.3736-37C>G) c.3544-37C>G (n.3544-37C>G) c.3319-37C>G (n.3319-37C>G) c.3001-37C>G (n.3001-37C>G) c.3910-37C>G (n.3910-37C>G) | gnomAD v4 |
| 13 | g.101081684T>A | CA2623578311 | NALCN | c.3766-38A>T (n.3766-38A>T) c.3487-38A>T (n.3487-38A>T) c.3853-38A>T (n.3853-38A>T) c.3679-38A>T (n.3679-38A>T) c.3823-38A>T (n.3823-38A>T) c.3736-38A>T (n.3736-38A>T) c.3544-38A>T (n.3544-38A>T) c.3319-38A>T (n.3319-38A>T) c.3001-38A>T (n.3001-38A>T) c.3910-38A>T (n.3910-38A>T) | gnomAD v4 |
| 13 | g.101081685G>A | CA2623578312 | NALCN | c.3766-39C>T (n.3766-39C>T) c.3487-39C>T (n.3487-39C>T) c.3853-39C>T (n.3853-39C>T) c.3679-39C>T (n.3679-39C>T) c.3823-39C>T (n.3823-39C>T) c.3736-39C>T (n.3736-39C>T) c.3544-39C>T (n.3544-39C>T) c.3319-39C>T (n.3319-39C>T) c.3001-39C>T (n.3001-39C>T) c.3910-39C>T (n.3910-39C>T) | gnomAD v4 |
| 13 | g.101081686T>C | CA7035300 | NALCN | c.3766-40A>G (n.3766-40A>G) c.3487-40A>G (n.3487-40A>G) c.3853-40A>G (n.3853-40A>G) c.3679-40A>G (n.3679-40A>G) c.3823-40A>G (n.3823-40A>G) c.3736-40A>G (n.3736-40A>G) c.3544-40A>G (n.3544-40A>G) c.3319-40A>G (n.3319-40A>G) c.3001-40A>G (n.3001-40A>G) c.3910-40A>G (n.3910-40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.101081686T= | CA2114388880 | NALCN | c.3766-40A= (n.3766-40A=) c.3487-40A= (n.3487-40A=) c.3853-40A= (n.3853-40A=) c.3679-40A= (n.3679-40A=) c.3823-40A= (n.3823-40A=) c.3736-40A= (n.3736-40A=) c.3544-40A= (n.3544-40A=) c.3319-40A= (n.3319-40A=) c.3001-40A= (n.3001-40A=) c.3910-40A= (n.3910-40A=) | |
| 13 | g.101081688T>C | CA7035301 | NALCN | c.3766-42A>G (n.3766-42A>G) c.3487-42A>G (n.3487-42A>G) c.3853-42A>G (n.3853-42A>G) c.3679-42A>G (n.3679-42A>G) c.3823-42A>G (n.3823-42A>G) c.3736-42A>G (n.3736-42A>G) c.3544-42A>G (n.3544-42A>G) c.3319-42A>G (n.3319-42A>G) c.3001-42A>G (n.3001-42A>G) c.3910-42A>G (n.3910-42A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081688T= | CA2114388881 | NALCN | c.3766-42A= (n.3766-42A=) c.3487-42A= (n.3487-42A=) c.3853-42A= (n.3853-42A=) c.3679-42A= (n.3679-42A=) c.3823-42A= (n.3823-42A=) c.3736-42A= (n.3736-42A=) c.3544-42A= (n.3544-42A=) c.3319-42A= (n.3319-42A=) c.3001-42A= (n.3001-42A=) c.3910-42A= (n.3910-42A=) | |
| 13 | g.101081689A= | CA2114388882 | NALCN | c.3766-43T= (n.3766-43T=) c.3487-43T= (n.3487-43T=) c.3853-43T= (n.3853-43T=) c.3679-43T= (n.3679-43T=) c.3823-43T= (n.3823-43T=) c.3736-43T= (n.3736-43T=) c.3544-43T= (n.3544-43T=) c.3319-43T= (n.3319-43T=) c.3001-43T= (n.3001-43T=) c.3910-43T= (n.3910-43T=) | |
| 13 | g.101081689A>G | CA2114388883 | NALCN | c.3766-43T>C (n.3766-43T>C) c.3487-43T>C (n.3487-43T>C) c.3853-43T>C (n.3853-43T>C) c.3679-43T>C (n.3679-43T>C) c.3823-43T>C (n.3823-43T>C) c.3736-43T>C (n.3736-43T>C) c.3544-43T>C (n.3544-43T>C) c.3319-43T>C (n.3319-43T>C) c.3001-43T>C (n.3001-43T>C) c.3910-43T>C (n.3910-43T>C) | dbSNP |
| 13 | g.101081690G>A | CA7035303 | NALCN | c.3766-44C>T (n.3766-44C>T) c.3487-44C>T (n.3487-44C>T) c.3853-44C>T (n.3853-44C>T) c.3679-44C>T (n.3679-44C>T) c.3823-44C>T (n.3823-44C>T) c.3736-44C>T (n.3736-44C>T) c.3544-44C>T (n.3544-44C>T) c.3319-44C>T (n.3319-44C>T) c.3001-44C>T (n.3001-44C>T) c.3910-44C>T (n.3910-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081690G>C | CA611945886 | NALCN | c.3766-44C>G (n.3766-44C>G) c.3487-44C>G (n.3487-44C>G) c.3853-44C>G (n.3853-44C>G) c.3679-44C>G (n.3679-44C>G) c.3823-44C>G (n.3823-44C>G) c.3736-44C>G (n.3736-44C>G) c.3544-44C>G (n.3544-44C>G) c.3319-44C>G (n.3319-44C>G) c.3001-44C>G (n.3001-44C>G) c.3910-44C>G (n.3910-44C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.101081690G= | CA2114388884 | NALCN | c.3766-44C= (n.3766-44C=) c.3487-44C= (n.3487-44C=) c.3853-44C= (n.3853-44C=) c.3679-44C= (n.3679-44C=) c.3823-44C= (n.3823-44C=) c.3736-44C= (n.3736-44C=) c.3544-44C= (n.3544-44C=) c.3319-44C= (n.3319-44C=) c.3001-44C= (n.3001-44C=) c.3910-44C= (n.3910-44C=) | |
| 13 | g.101081690G>T | CA7035302 | NALCN | c.3766-44C>A (n.3766-44C>A) c.3487-44C>A (n.3487-44C>A) c.3853-44C>A (n.3853-44C>A) c.3679-44C>A (n.3679-44C>A) c.3823-44C>A (n.3823-44C>A) c.3736-44C>A (n.3736-44C>A) c.3544-44C>A (n.3544-44C>A) c.3319-44C>A (n.3319-44C>A) c.3001-44C>A (n.3001-44C>A) c.3910-44C>A (n.3910-44C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081693C= | CA2114388885 | NALCN | c.3766-47G= (n.3766-47G=) c.3487-47G= (n.3487-47G=) c.3853-47G= (n.3853-47G=) c.3679-47G= (n.3679-47G=) c.3823-47G= (n.3823-47G=) c.3736-47G= (n.3736-47G=) c.3544-47G= (n.3544-47G=) c.3319-47G= (n.3319-47G=) c.3001-47G= (n.3001-47G=) c.3910-47G= (n.3910-47G=) | |
| 13 | g.101081693C>T | CA7035304 | NALCN | c.3766-47G>A (n.3766-47G>A) c.3487-47G>A (n.3487-47G>A) c.3853-47G>A (n.3853-47G>A) c.3679-47G>A (n.3679-47G>A) c.3823-47G>A (n.3823-47G>A) c.3736-47G>A (n.3736-47G>A) c.3544-47G>A (n.3544-47G>A) c.3319-47G>A (n.3319-47G>A) c.3001-47G>A (n.3001-47G>A) c.3910-47G>A (n.3910-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.101081694A= | CA2114388886 | NALCN | c.3766-48T= (n.3766-48T=) c.3487-48T= (n.3487-48T=) c.3853-48T= (n.3853-48T=) c.3679-48T= (n.3679-48T=) c.3823-48T= (n.3823-48T=) c.3736-48T= (n.3736-48T=) c.3544-48T= (n.3544-48T=) c.3319-48T= (n.3319-48T=) c.3001-48T= (n.3001-48T=) c.3910-48T= (n.3910-48T=) | |
| 13 | g.101081694A>G | CA7035305 | NALCN | c.3766-48T>C (n.3766-48T>C) c.3487-48T>C (n.3487-48T>C) c.3853-48T>C (n.3853-48T>C) c.3679-48T>C (n.3679-48T>C) c.3823-48T>C (n.3823-48T>C) c.3736-48T>C (n.3736-48T>C) c.3544-48T>C (n.3544-48T>C) c.3319-48T>C (n.3319-48T>C) c.3001-48T>C (n.3001-48T>C) c.3910-48T>C (n.3910-48T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |