Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.9763108_9769129del | CA915949116 | GRIN2A | c.2357-40_*41del c.1886-40_*247del n.1950-40_3686del c.1886-40_*41del c.2357-4181_*1806del c.1946-40_4025del n.1996-40_3732del c.1946-40_*247del c.2357-40_*247del c.2198-40_*41del c.2099-40_*41del c.2513-40_*41del c.2513-40_*247del | ClinVar |
16 | g.9763418_9763420delinsGTT | CA2206692711 | GRIN2A | c.4124_4126delinsAAC (p.Gln1375=) c.3310_3312delinsAAC (p.Asn1104=) n.3374_3376delinsAAC c.3653_3655delinsAAC (p.Gln1218=) c.*1494_*1496delinsAAC (n.*1494_*1496delinsAAC) c.3713_3715delinsAAC (p.Gln1238=) n.3420_3422delinsAAC c.3370_3372delinsAAC (p.Asn1124=) c.3781_3783delinsAAC (p.Asn1261=) c.3965_3967delinsAAC (p.Gln1322=) c.3866_3868delinsAAC (p.Gln1289=) c.4280_4282delinsAAC (p.Gln1427=) c.3937_3939delinsAAC (p.Asn1313=) | |
16 | g.9763419T>A | CA394706037 | GRIN2A | c.4125A>T (p.Gln1375His) c.3311A>T (p.Asn1104Ile) n.3375A>T c.3654A>T (p.Gln1218His) c.*1495A>T (n.*1495A>T) c.3714A>T (p.Gln1238His) n.3421A>T c.3371A>T (p.Asn1124Ile) c.3782A>T (p.Asn1261Ile) c.3966A>T (p.Gln1322His) c.3867A>T (p.Gln1289His) c.4281A>T (p.Gln1427His) c.3938A>T (p.Asn1313Ile) | dbSNP |
16 | g.9763419T>C | CA394706036 | GRIN2A | c.4125A>G (p.Gln1375=) c.3311A>G (p.Asn1104Ser) n.3375A>G c.3654A>G (p.Gln1218=) c.*1495A>G (n.*1495A>G) c.3714A>G (p.Gln1238=) n.3421A>G c.3371A>G (p.Asn1124Ser) c.3782A>G (p.Asn1261Ser) c.3966A>G (p.Gln1322=) c.3867A>G (p.Gln1289=) c.4281A>G (p.Gln1427=) c.3938A>G (p.Asn1313Ser) | dbSNP gnomAD v4 |
16 | g.9763419T>G | CA394706035 | GRIN2A | c.4125A>C (p.Gln1375His) c.3311A>C (p.Asn1104Thr) n.3375A>C c.3654A>C (p.Gln1218His) c.*1495A>C (n.*1495A>C) c.3714A>C (p.Gln1238His) n.3421A>C c.3371A>C (p.Asn1124Thr) c.3782A>C (p.Asn1261Thr) c.3966A>C (p.Gln1322His) c.3867A>C (p.Gln1289His) c.4281A>C (p.Gln1427His) c.3938A>C (p.Asn1313Thr) | dbSNP |
16 | g.9763419T= | CA2206692713 | GRIN2A | c.4125A= (p.Gln1375=) c.3311A= (p.Asn1104=) n.3375A= c.3654A= (p.Gln1218=) c.*1495A= (n.*1495A=) c.3714A= (p.Gln1238=) n.3421A= c.3371A= (p.Asn1124=) c.3782A= (p.Asn1261=) c.3966A= (p.Gln1322=) c.3867A= (p.Gln1289=) c.4281A= (p.Gln1427=) c.3938A= (p.Asn1313=) | |
16 | g.9763419_9763420del | CA621175126 | GRIN2A | c.4124_4125del (p.Gln1375ProfsTer23) c.3310_3311del (p.Asn1104ArgfsTer?) n.3374_3375del c.3653_3654del (p.Gln1218ProfsTer23) c.*1494_*1495del (n.*1494_*1495del) c.3713_3714del (p.Gln1238ProfsTer23) n.3420_3421del c.3370_3371del (p.Asn1124ArgfsTer?) c.3781_3782del (p.Asn1261ArgfsTer?) c.3965_3966del (p.Gln1322ProfsTer23) c.3866_3867del (p.Gln1289ProfsTer23) c.4280_4281del (p.Gln1427ProfsTer23) c.3937_3938del (p.Asn1313ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763420T>A | CA394706038 | GRIN2A | c.4124A>T (p.Gln1375Leu) c.3310A>T (p.Asn1104Tyr) n.3374A>T c.3653A>T (p.Gln1218Leu) c.*1494A>T (n.*1494A>T) c.3713A>T (p.Gln1238Leu) n.3420A>T c.3370A>T (p.Asn1124Tyr) c.3781A>T (p.Asn1261Tyr) c.3965A>T (p.Gln1322Leu) c.3866A>T (p.Gln1289Leu) c.4280A>T (p.Gln1427Leu) c.3937A>T (p.Asn1313Tyr) | dbSNP |
16 | g.9763420T>C | CA394706039 | GRIN2A | c.4124A>G (p.Gln1375Arg) c.3310A>G (p.Asn1104Asp) n.3374A>G c.3653A>G (p.Gln1218Arg) c.*1494A>G (n.*1494A>G) c.3713A>G (p.Gln1238Arg) n.3420A>G c.3370A>G (p.Asn1124Asp) c.3781A>G (p.Asn1261Asp) c.3965A>G (p.Gln1322Arg) c.3866A>G (p.Gln1289Arg) c.4280A>G (p.Gln1427Arg) c.3937A>G (p.Asn1313Asp) | |
16 | g.9763420T>G | CA394706040 | GRIN2A | c.4124A>C (p.Gln1375Pro) c.3310A>C (p.Asn1104His) n.3374A>C c.3653A>C (p.Gln1218Pro) c.*1494A>C (n.*1494A>C) c.3713A>C (p.Gln1238Pro) n.3420A>C c.3370A>C (p.Asn1124His) c.3781A>C (p.Asn1261His) c.3965A>C (p.Gln1322Pro) c.3866A>C (p.Gln1289Pro) c.4280A>C (p.Gln1427Pro) c.3937A>C (p.Asn1313His) | dbSNP |
16 | g.9763421G>A | CA394706041 | GRIN2A | c.4123C>T (p.Gln1375Ter) c.3309C>T (p.Thr1103=) n.3373C>T c.3652C>T (p.Gln1218Ter) c.*1493C>T (n.*1493C>T) c.3712C>T (p.Gln1238Ter) n.3419C>T c.3369C>T (p.Thr1123=) c.3780C>T (p.Thr1260=) c.3964C>T (p.Gln1322Ter) c.3865C>T (p.Gln1289Ter) c.4279C>T (p.Gln1427Ter) c.3936C>T (p.Thr1312=) | dbSNP |
16 | g.9763421G>C | CA394706042 | GRIN2A | c.4123C>G (p.Gln1375Glu) c.3309C>G (p.Thr1103=) n.3373C>G c.3652C>G (p.Gln1218Glu) c.*1493C>G (n.*1493C>G) c.3712C>G (p.Gln1238Glu) n.3419C>G c.3369C>G (p.Thr1123=) c.3780C>G (p.Thr1260=) c.3964C>G (p.Gln1322Glu) c.3865C>G (p.Gln1289Glu) c.4279C>G (p.Gln1427Glu) c.3936C>G (p.Thr1312=) | dbSNP |
16 | g.9763421G= | CA2206692714 | GRIN2A | c.4123C= (p.Gln1375=) c.3309C= (p.Thr1103=) n.3373C= c.3652C= (p.Gln1218=) c.*1493C= (n.*1493C=) c.3712C= (p.Gln1238=) n.3419C= c.3369C= (p.Thr1123=) c.3780C= (p.Thr1260=) c.3964C= (p.Gln1322=) c.3865C= (p.Gln1289=) c.4279C= (p.Gln1427=) c.3936C= (p.Thr1312=) | |
16 | g.9763421G>T | CA394706043 | GRIN2A | c.4123C>A (p.Gln1375Lys) c.3309C>A (p.Thr1103=) n.3373C>A c.3652C>A (p.Gln1218Lys) c.*1493C>A (n.*1493C>A) c.3712C>A (p.Gln1238Lys) n.3419C>A c.3369C>A (p.Thr1123=) c.3780C>A (p.Thr1260=) c.3964C>A (p.Gln1322Lys) c.3865C>A (p.Gln1289Lys) c.4279C>A (p.Gln1427Lys) c.3936C>A (p.Thr1312=) | dbSNP |
16 | g.9763422G>A | CA394706044 | GRIN2A | c.4122C>T (p.Asp1374=) c.3308C>T (p.Thr1103Ile) n.3372C>T c.3651C>T (p.Asp1217=) c.*1492C>T (n.*1492C>T) c.3711C>T (p.Asp1237=) n.3418C>T c.3368C>T (p.Thr1123Ile) c.3779C>T (p.Thr1260Ile) c.3963C>T (p.Asp1321=) c.3864C>T (p.Asp1288=) c.4278C>T (p.Asp1426=) c.3935C>T (p.Thr1312Ile) | dbSNP COSMIC |
16 | g.9763422G>C | CA394706045 | GRIN2A | c.4122C>G (p.Asp1374Glu) c.3308C>G (p.Thr1103Ser) n.3372C>G c.3651C>G (p.Asp1217Glu) c.*1492C>G (n.*1492C>G) c.3711C>G (p.Asp1237Glu) n.3418C>G c.3368C>G (p.Thr1123Ser) c.3779C>G (p.Thr1260Ser) c.3963C>G (p.Asp1321Glu) c.3864C>G (p.Asp1288Glu) c.4278C>G (p.Asp1426Glu) c.3935C>G (p.Thr1312Ser) | dbSNP |
16 | g.9763422G>T | CA394706046 | GRIN2A | c.4122C>A (p.Asp1374Glu) c.3308C>A (p.Thr1103Asn) n.3372C>A c.3651C>A (p.Asp1217Glu) c.*1492C>A (n.*1492C>A) c.3711C>A (p.Asp1237Glu) n.3418C>A c.3368C>A (p.Thr1123Asn) c.3779C>A (p.Thr1260Asn) c.3963C>A (p.Asp1321Glu) c.3864C>A (p.Asp1288Glu) c.4278C>A (p.Asp1426Glu) c.3935C>A (p.Thr1312Asn) | |
16 | g.9763423T>A | CA394706047 | GRIN2A | c.4121A>T (p.Asp1374Val) c.3307A>T (p.Thr1103Ser) n.3371A>T c.3650A>T (p.Asp1217Val) c.*1491A>T (n.*1491A>T) c.3710A>T (p.Asp1237Val) n.3417A>T c.3367A>T (p.Thr1123Ser) c.3778A>T (p.Thr1260Ser) c.3962A>T (p.Asp1321Val) c.3863A>T (p.Asp1288Val) c.4277A>T (p.Asp1426Val) c.3934A>T (p.Thr1312Ser) | dbSNP |
16 | g.9763423T>C | CA394706048 | GRIN2A | c.4121A>G (p.Asp1374Gly) c.3307A>G (p.Thr1103Ala) n.3371A>G c.3650A>G (p.Asp1217Gly) c.*1491A>G (n.*1491A>G) c.3710A>G (p.Asp1237Gly) n.3417A>G c.3367A>G (p.Thr1123Ala) c.3778A>G (p.Thr1260Ala) c.3962A>G (p.Asp1321Gly) c.3863A>G (p.Asp1288Gly) c.4277A>G (p.Asp1426Gly) c.3934A>G (p.Thr1312Ala) | |
16 | g.9763423T>G | CA394706049 | GRIN2A | c.4121A>C (p.Asp1374Ala) c.3307A>C (p.Thr1103Pro) n.3371A>C c.3650A>C (p.Asp1217Ala) c.*1491A>C (n.*1491A>C) c.3710A>C (p.Asp1237Ala) n.3417A>C c.3367A>C (p.Thr1123Pro) c.3778A>C (p.Thr1260Pro) c.3962A>C (p.Asp1321Ala) c.3863A>C (p.Asp1288Ala) c.4277A>C (p.Asp1426Ala) c.3934A>C (p.Thr1312Pro) | |
16 | g.9763424C>A | CA394706050 | GRIN2A | c.4120G>T (p.Asp1374Tyr) c.3306G>T (p.Met1102Ile) n.3370G>T c.3649G>T (p.Asp1217Tyr) c.*1490G>T (n.*1490G>T) c.3709G>T (p.Asp1237Tyr) n.3416G>T c.3366G>T (p.Met1122Ile) c.3777G>T (p.Met1259Ile) c.3961G>T (p.Asp1321Tyr) c.3862G>T (p.Asp1288Tyr) c.4276G>T (p.Asp1426Tyr) c.3933G>T (p.Met1311Ile) | dbSNP gnomAD v4 |
16 | g.9763424C>G | CA394706052 | GRIN2A | c.4120G>C (p.Asp1374His) c.3306G>C (p.Met1102Ile) n.3370G>C c.3649G>C (p.Asp1217His) c.*1490G>C (n.*1490G>C) c.3709G>C (p.Asp1237His) n.3416G>C c.3366G>C (p.Met1122Ile) c.3777G>C (p.Met1259Ile) c.3961G>C (p.Asp1321His) c.3862G>C (p.Asp1288His) c.4276G>C (p.Asp1426His) c.3933G>C (p.Met1311Ile) | dbSNP |
16 | g.9763424C>T | CA394706051 | GRIN2A | c.4120G>A (p.Asp1374Asn) c.3306G>A (p.Met1102Ile) n.3370G>A c.3649G>A (p.Asp1217Asn) c.*1490G>A (n.*1490G>A) c.3709G>A (p.Asp1237Asn) n.3416G>A c.3366G>A (p.Met1122Ile) c.3777G>A (p.Met1259Ile) c.3961G>A (p.Asp1321Asn) c.3862G>A (p.Asp1288Asn) c.4276G>A (p.Asp1426Asn) c.3933G>A (p.Met1311Ile) | dbSNP gnomAD v4 |
16 | g.9763425A>C | CA394706053 | GRIN2A | c.4119T>G (p.Asp1373Glu) c.3305T>G (p.Met1102Arg) n.3369T>G c.3648T>G (p.Asp1216Glu) c.*1489T>G (n.*1489T>G) c.3708T>G (p.Asp1236Glu) n.3415T>G c.3365T>G (p.Met1122Arg) c.3776T>G (p.Met1259Arg) c.3960T>G (p.Asp1320Glu) c.3861T>G (p.Asp1287Glu) c.4275T>G (p.Asp1425Glu) c.3932T>G (p.Met1311Arg) | dbSNP gnomAD v4 |
16 | g.9763425A>G | CA394706055 | GRIN2A | c.4119T>C (p.Asp1373=) c.3305T>C (p.Met1102Thr) n.3369T>C c.3648T>C (p.Asp1216=) c.*1489T>C (n.*1489T>C) c.3708T>C (p.Asp1236=) n.3415T>C c.3365T>C (p.Met1122Thr) c.3776T>C (p.Met1259Thr) c.3960T>C (p.Asp1320=) c.3861T>C (p.Asp1287=) c.4275T>C (p.Asp1425=) c.3932T>C (p.Met1311Thr) | |
16 | g.9763425A>T | CA394706054 | GRIN2A | c.4119T>A (p.Asp1373Glu) c.3305T>A (p.Met1102Lys) n.3369T>A c.3648T>A (p.Asp1216Glu) c.*1489T>A (n.*1489T>A) c.3708T>A (p.Asp1236Glu) n.3415T>A c.3365T>A (p.Met1122Lys) c.3776T>A (p.Met1259Lys) c.3960T>A (p.Asp1320Glu) c.3861T>A (p.Asp1287Glu) c.4275T>A (p.Asp1425Glu) c.3932T>A (p.Met1311Lys) | dbSNP |
16 | g.9763426T>A | CA394706056 | GRIN2A | c.4118A>T (p.Asp1373Val) c.3304A>T (p.Met1102Leu) n.3368A>T c.3647A>T (p.Asp1216Val) c.*1488A>T (n.*1488A>T) c.3707A>T (p.Asp1236Val) n.3414A>T c.3364A>T (p.Met1122Leu) c.3775A>T (p.Met1259Leu) c.3959A>T (p.Asp1320Val) c.3860A>T (p.Asp1287Val) c.4274A>T (p.Asp1425Val) c.3931A>T (p.Met1311Leu) | dbSNP |
16 | g.9763426T>C | CA394706057 | GRIN2A | c.4118A>G (p.Asp1373Gly) c.3304A>G (p.Met1102Val) n.3368A>G c.3647A>G (p.Asp1216Gly) c.*1488A>G (n.*1488A>G) c.3707A>G (p.Asp1236Gly) n.3414A>G c.3364A>G (p.Met1122Val) c.3775A>G (p.Met1259Val) c.3959A>G (p.Asp1320Gly) c.3860A>G (p.Asp1287Gly) c.4274A>G (p.Asp1425Gly) c.3931A>G (p.Met1311Val) | dbSNP |
16 | g.9763426T>G | CA394706058 | GRIN2A | c.4118A>C (p.Asp1373Ala) c.3304A>C (p.Met1102Leu) n.3368A>C c.3647A>C (p.Asp1216Ala) c.*1488A>C (n.*1488A>C) c.3707A>C (p.Asp1236Ala) n.3414A>C c.3364A>C (p.Met1122Leu) c.3775A>C (p.Met1259Leu) c.3959A>C (p.Asp1320Ala) c.3860A>C (p.Asp1287Ala) c.4274A>C (p.Asp1425Ala) c.3931A>C (p.Met1311Leu) | |
16 | g.9763427C>A | CA394706059 | GRIN2A | c.4117G>T (p.Asp1373Tyr) c.3303G>T (p.Gly1101=) n.3367G>T c.3646G>T (p.Asp1216Tyr) c.*1487G>T (n.*1487G>T) c.3706G>T (p.Asp1236Tyr) n.3413G>T c.3363G>T (p.Gly1121=) c.3774G>T (p.Gly1258=) c.3958G>T (p.Asp1320Tyr) c.3859G>T (p.Asp1287Tyr) c.4273G>T (p.Asp1425Tyr) c.3930G>T (p.Gly1310=) | dbSNP |
16 | g.9763427C>G | CA394706060 | GRIN2A | c.4117G>C (p.Asp1373His) c.3303G>C (p.Gly1101=) n.3367G>C c.3646G>C (p.Asp1216His) c.*1487G>C (n.*1487G>C) c.3706G>C (p.Asp1236His) n.3413G>C c.3363G>C (p.Gly1121=) c.3774G>C (p.Gly1258=) c.3958G>C (p.Asp1320His) c.3859G>C (p.Asp1287His) c.4273G>C (p.Asp1425His) c.3930G>C (p.Gly1310=) | ClinVar dbSNP |
16 | g.9763427C>T | CA394706061 | GRIN2A | c.4117G>A (p.Asp1373Asn) c.3303G>A (p.Gly1101=) n.3367G>A c.3646G>A (p.Asp1216Asn) c.*1487G>A (n.*1487G>A) c.3706G>A (p.Asp1236Asn) n.3413G>A c.3363G>A (p.Gly1121=) c.3774G>A (p.Gly1258=) c.3958G>A (p.Asp1320Asn) c.3859G>A (p.Asp1287Asn) c.4273G>A (p.Asp1425Asn) c.3930G>A (p.Gly1310=) | dbSNP COSMIC |
16 | g.9763428C>A | CA394706062 | GRIN2A | c.4116G>T (p.Arg1372Ser) c.3302G>T (p.Gly1101Val) n.3366G>T c.3645G>T (p.Arg1215Ser) c.*1486G>T (n.*1486G>T) c.3705G>T (p.Arg1235Ser) n.3412G>T c.3362G>T (p.Gly1121Val) c.3773G>T (p.Gly1258Val) c.3957G>T (p.Arg1319Ser) c.3858G>T (p.Arg1286Ser) c.4272G>T (p.Arg1424Ser) c.3929G>T (p.Gly1310Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763428C= | CA2206692715 | GRIN2A | c.4116G= (p.Arg1372=) c.3302G= (p.Gly1101=) n.3366G= c.3645G= (p.Arg1215=) c.*1486G= (n.*1486G=) c.3705G= (p.Arg1235=) n.3412G= c.3362G= (p.Gly1121=) c.3773G= (p.Gly1258=) c.3957G= (p.Arg1319=) c.3858G= (p.Arg1286=) c.4272G= (p.Arg1424=) c.3929G= (p.Gly1310=) | |
16 | g.9763428C>G | CA394706063 | GRIN2A | c.4116G>C (p.Arg1372Ser) c.3302G>C (p.Gly1101Ala) n.3366G>C c.3645G>C (p.Arg1215Ser) c.*1486G>C (n.*1486G>C) c.3705G>C (p.Arg1235Ser) n.3412G>C c.3362G>C (p.Gly1121Ala) c.3773G>C (p.Gly1258Ala) c.3957G>C (p.Arg1319Ser) c.3858G>C (p.Arg1286Ser) c.4272G>C (p.Arg1424Ser) c.3929G>C (p.Gly1310Ala) | dbSNP |
16 | g.9763428C>T | CA394706064 | GRIN2A | c.4116G>A (p.Arg1372=) c.3302G>A (p.Gly1101Glu) n.3366G>A c.3645G>A (p.Arg1215=) c.*1486G>A (n.*1486G>A) c.3705G>A (p.Arg1235=) n.3412G>A c.3362G>A (p.Gly1121Glu) c.3773G>A (p.Gly1258Glu) c.3957G>A (p.Arg1319=) c.3858G>A (p.Arg1286=) c.4272G>A (p.Arg1424=) c.3929G>A (p.Gly1310Glu) | dbSNP COSMIC |
16 | g.9763429C>A | CA394706065 | GRIN2A | c.4115G>T (p.Arg1372Met) c.3302-1G>T (n.3302-1G>T) n.3366-1G>T c.3644G>T (p.Arg1215Met) c.*1485G>T (n.*1485G>T) c.3704G>T (p.Arg1235Met) n.3412-1G>T c.3362-1G>T (n.3362-1G>T) c.3773-1G>T (n.3773-1G>T) c.3956G>T (p.Arg1319Met) c.3857G>T (p.Arg1286Met) c.4271G>T (p.Arg1424Met) c.3929-1G>T (n.3929-1G>T) | dbSNP |
16 | g.9763429C= | CA2206692716 | GRIN2A | c.4115G= (p.Arg1372=) c.3302-1G= (n.3302-1G=) n.3366-1G= c.3644G= (p.Arg1215=) c.*1485G= (n.*1485G=) c.3704G= (p.Arg1235=) n.3412-1G= c.3362-1G= (n.3362-1G=) c.3773-1G= (n.3773-1G=) c.3956G= (p.Arg1319=) c.3857G= (p.Arg1286=) c.4271G= (p.Arg1424=) c.3929-1G= (n.3929-1G=) | |
16 | g.9763429C>G | CA394706066 | GRIN2A | c.4115G>C (p.Arg1372Thr) c.3302-1G>C (n.3302-1G>C) n.3366-1G>C c.3644G>C (p.Arg1215Thr) c.*1485G>C (n.*1485G>C) c.3704G>C (p.Arg1235Thr) n.3412-1G>C c.3362-1G>C (n.3362-1G>C) c.3773-1G>C (n.3773-1G>C) c.3956G>C (p.Arg1319Thr) c.3857G>C (p.Arg1286Thr) c.4271G>C (p.Arg1424Thr) c.3929-1G>C (n.3929-1G>C) | dbSNP gnomAD v4 |
16 | g.9763429C>T | CA394706067 | GRIN2A | c.4115G>A (p.Arg1372Lys) c.3302-1G>A (n.3302-1G>A) n.3366-1G>A c.3644G>A (p.Arg1215Lys) c.*1485G>A (n.*1485G>A) c.3704G>A (p.Arg1235Lys) n.3412-1G>A c.3362-1G>A (n.3362-1G>A) c.3773-1G>A (n.3773-1G>A) c.3956G>A (p.Arg1319Lys) c.3857G>A (p.Arg1286Lys) c.4271G>A (p.Arg1424Lys) c.3929-1G>A (n.3929-1G>A) | dbSNP |
16 | g.9763430T>A | CA394706070 | GRIN2A | c.4114A>T (p.Arg1372Trp) c.3302-2A>T (n.3302-2A>T) n.3366-2A>T c.3643A>T (p.Arg1215Trp) c.*1484A>T (n.*1484A>T) c.3703A>T (p.Arg1235Trp) n.3412-2A>T c.3362-2A>T (n.3362-2A>T) c.3773-2A>T (n.3773-2A>T) c.3955A>T (p.Arg1319Trp) c.3856A>T (p.Arg1286Trp) c.4270A>T (p.Arg1424Trp) c.3929-2A>T (n.3929-2A>T) | dbSNP |
16 | g.9763430T>C | CA394706068 | GRIN2A | c.4114A>G (p.Arg1372Gly) c.3302-2A>G (n.3302-2A>G) n.3366-2A>G c.3643A>G (p.Arg1215Gly) c.*1484A>G (n.*1484A>G) c.3703A>G (p.Arg1235Gly) n.3412-2A>G c.3362-2A>G (n.3362-2A>G) c.3773-2A>G (n.3773-2A>G) c.3955A>G (p.Arg1319Gly) c.3856A>G (p.Arg1286Gly) c.4270A>G (p.Arg1424Gly) c.3929-2A>G (n.3929-2A>G) | dbSNP |
16 | g.9763430T>G | CA394706069 | GRIN2A | c.4114A>C (p.Arg1372=) c.3302-2A>C (n.3302-2A>C) n.3366-2A>C c.3643A>C (p.Arg1215=) c.*1484A>C (n.*1484A>C) c.3703A>C (p.Arg1235=) n.3412-2A>C c.3362-2A>C (n.3362-2A>C) c.3773-2A>C (n.3773-2A>C) c.3955A>C (p.Arg1319=) c.3856A>C (p.Arg1286=) c.4270A>C (p.Arg1424=) c.3929-2A>C (n.3929-2A>C) | dbSNP COSMIC |
16 | g.9763431G>A | CA493692611 | GRIN2A | c.4113C>T (p.His1371=) c.3302-3C>T (n.3302-3C>T) n.3366-3C>T c.3642C>T (p.His1214=) c.*1483C>T (n.*1483C>T) c.3702C>T (p.His1234=) n.3412-3C>T c.3362-3C>T (n.3362-3C>T) c.3773-3C>T (n.3773-3C>T) c.3954C>T (p.His1318=) c.3855C>T (p.His1285=) c.4269C>T (p.His1423=) c.3929-3C>T (n.3929-3C>T) | dbSNP |
16 | g.9763431G>C | CA394706071 | GRIN2A | c.4113C>G (p.His1371Gln) c.3302-3C>G (n.3302-3C>G) n.3366-3C>G c.3642C>G (p.His1214Gln) c.*1483C>G (n.*1483C>G) c.3702C>G (p.His1234Gln) n.3412-3C>G c.3362-3C>G (n.3362-3C>G) c.3773-3C>G (n.3773-3C>G) c.3954C>G (p.His1318Gln) c.3855C>G (p.His1285Gln) c.4269C>G (p.His1423Gln) c.3929-3C>G (n.3929-3C>G) | dbSNP |
16 | g.9763431G>T | CA394706072 | GRIN2A | c.4113C>A (p.His1371Gln) c.3302-3C>A (n.3302-3C>A) n.3366-3C>A c.3642C>A (p.His1214Gln) c.*1483C>A (n.*1483C>A) c.3702C>A (p.His1234Gln) n.3412-3C>A c.3362-3C>A (n.3362-3C>A) c.3773-3C>A (n.3773-3C>A) c.3954C>A (p.His1318Gln) c.3855C>A (p.His1285Gln) c.4269C>A (p.His1423Gln) c.3929-3C>A (n.3929-3C>A) | dbSNP |
16 | g.9763432T>A | CA394706073 | GRIN2A | c.4112A>T (p.His1371Leu) c.3302-4A>T (n.3302-4A>T) n.3366-4A>T c.3641A>T (p.His1214Leu) c.*1482A>T (n.*1482A>T) c.3701A>T (p.His1234Leu) n.3412-4A>T c.3362-4A>T (n.3362-4A>T) c.3773-4A>T (n.3773-4A>T) c.3953A>T (p.His1318Leu) c.3854A>T (p.His1285Leu) c.4268A>T (p.His1423Leu) c.3929-4A>T (n.3929-4A>T) | |
16 | g.9763432T>C | CA394706074 | GRIN2A | c.4112A>G (p.His1371Arg) c.3302-4A>G (n.3302-4A>G) n.3366-4A>G c.3641A>G (p.His1214Arg) c.*1482A>G (n.*1482A>G) c.3701A>G (p.His1234Arg) n.3412-4A>G c.3362-4A>G (n.3362-4A>G) c.3773-4A>G (n.3773-4A>G) c.3953A>G (p.His1318Arg) c.3854A>G (p.His1285Arg) c.4268A>G (p.His1423Arg) c.3929-4A>G (n.3929-4A>G) | |
16 | g.9763432T>G | CA394706075 | GRIN2A | c.4112A>C (p.His1371Pro) c.3302-4A>C (n.3302-4A>C) n.3366-4A>C c.3641A>C (p.His1214Pro) c.*1482A>C (n.*1482A>C) c.3701A>C (p.His1234Pro) n.3412-4A>C c.3362-4A>C (n.3362-4A>C) c.3773-4A>C (n.3773-4A>C) c.3953A>C (p.His1318Pro) c.3854A>C (p.His1285Pro) c.4268A>C (p.His1423Pro) c.3929-4A>C (n.3929-4A>C) | |
16 | g.9763433G>A | CA394706076 | GRIN2A | c.4111C>T (p.His1371Tyr) c.3302-5C>T (n.3302-5C>T) n.3366-5C>T c.3640C>T (p.His1214Tyr) c.*1481C>T (n.*1481C>T) c.3700C>T (p.His1234Tyr) n.3412-5C>T c.3362-5C>T (n.3362-5C>T) c.3773-5C>T (n.3773-5C>T) c.3952C>T (p.His1318Tyr) c.3853C>T (p.His1285Tyr) c.4267C>T (p.His1423Tyr) c.3929-5C>T (n.3929-5C>T) | dbSNP gnomAD v4 |
16 | g.9763433G>C | CA394706077 | GRIN2A | c.4111C>G (p.His1371Asp) c.3302-5C>G (n.3302-5C>G) n.3366-5C>G c.3640C>G (p.His1214Asp) c.*1481C>G (n.*1481C>G) c.3700C>G (p.His1234Asp) n.3412-5C>G c.3362-5C>G (n.3362-5C>G) c.3773-5C>G (n.3773-5C>G) c.3952C>G (p.His1318Asp) c.3853C>G (p.His1285Asp) c.4267C>G (p.His1423Asp) c.3929-5C>G (n.3929-5C>G) | dbSNP gnomAD v4 |
16 | g.9763433G>T | CA394706078 | GRIN2A | c.4111C>A (p.His1371Asn) c.3302-5C>A (n.3302-5C>A) n.3366-5C>A c.3640C>A (p.His1214Asn) c.*1481C>A (n.*1481C>A) c.3700C>A (p.His1234Asn) n.3412-5C>A c.3362-5C>A (n.3362-5C>A) c.3773-5C>A (n.3773-5C>A) c.3952C>A (p.His1318Asn) c.3853C>A (p.His1285Asn) c.4267C>A (p.His1423Asn) c.3929-5C>A (n.3929-5C>A) | |
16 | g.9763434G>A | CA493692614 | GRIN2A | c.4110C>T (p.Ser1370=) c.3302-6C>T (n.3302-6C>T) n.3366-6C>T c.3639C>T (p.Ser1213=) c.*1480C>T (n.*1480C>T) c.3699C>T (p.Ser1233=) n.3412-6C>T c.3362-6C>T (n.3362-6C>T) c.3773-6C>T (n.3773-6C>T) c.3951C>T (p.Ser1317=) c.3852C>T (p.Ser1284=) c.4266C>T (p.Ser1422=) c.3929-6C>T (n.3929-6C>T) | dbSNP |
16 | g.9763434G>C | CA493692615 | GRIN2A | c.4110C>G (p.Ser1370=) c.3302-6C>G (n.3302-6C>G) n.3366-6C>G c.3639C>G (p.Ser1213=) c.*1480C>G (n.*1480C>G) c.3699C>G (p.Ser1233=) n.3412-6C>G c.3362-6C>G (n.3362-6C>G) c.3773-6C>G (n.3773-6C>G) c.3951C>G (p.Ser1317=) c.3852C>G (p.Ser1284=) c.4266C>G (p.Ser1422=) c.3929-6C>G (n.3929-6C>G) | dbSNP |
16 | g.9763434G>T | CA493692616 | GRIN2A | c.4110C>A (p.Ser1370=) c.3302-6C>A (n.3302-6C>A) n.3366-6C>A c.3639C>A (p.Ser1213=) c.*1480C>A (n.*1480C>A) c.3699C>A (p.Ser1233=) n.3412-6C>A c.3362-6C>A (n.3362-6C>A) c.3773-6C>A (n.3773-6C>A) c.3951C>A (p.Ser1317=) c.3852C>A (p.Ser1284=) c.4266C>A (p.Ser1422=) c.3929-6C>A (n.3929-6C>A) | ClinVar dbSNP |
16 | g.9763435G>A | CA394706079 | GRIN2A | c.4109C>T (p.Ser1370Phe) c.3302-7C>T (n.3302-7C>T) n.3366-7C>T c.3638C>T (p.Ser1213Phe) c.*1479C>T (n.*1479C>T) c.3698C>T (p.Ser1233Phe) n.3412-7C>T c.3362-7C>T (n.3362-7C>T) c.3773-7C>T (n.3773-7C>T) c.3950C>T (p.Ser1317Phe) c.3851C>T (p.Ser1284Phe) c.4265C>T (p.Ser1422Phe) c.3929-7C>T (n.3929-7C>T) | dbSNP |
16 | g.9763435G>C | CA7896211 | GRIN2A | c.4109C>G (p.Ser1370Cys) c.3302-7C>G (n.3302-7C>G) n.3366-7C>G c.3638C>G (p.Ser1213Cys) c.*1479C>G (n.*1479C>G) c.3698C>G (p.Ser1233Cys) n.3412-7C>G c.3362-7C>G (n.3362-7C>G) c.3773-7C>G (n.3773-7C>G) c.3950C>G (p.Ser1317Cys) c.3851C>G (p.Ser1284Cys) c.4265C>G (p.Ser1422Cys) c.3929-7C>G (n.3929-7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763435G= | CA2206692717 | GRIN2A | c.4109C= (p.Ser1370=) c.3302-7C= (n.3302-7C=) n.3366-7C= c.3638C= (p.Ser1213=) c.*1479C= (n.*1479C=) c.3698C= (p.Ser1233=) n.3412-7C= c.3362-7C= (n.3362-7C=) c.3773-7C= (n.3773-7C=) c.3950C= (p.Ser1317=) c.3851C= (p.Ser1284=) c.4265C= (p.Ser1422=) c.3929-7C= (n.3929-7C=) | |
16 | g.9763435G>T | CA394706080 | GRIN2A | c.4109C>A (p.Ser1370Tyr) c.3302-7C>A (n.3302-7C>A) n.3366-7C>A c.3638C>A (p.Ser1213Tyr) c.*1479C>A (n.*1479C>A) c.3698C>A (p.Ser1233Tyr) n.3412-7C>A c.3362-7C>A (n.3362-7C>A) c.3773-7C>A (n.3773-7C>A) c.3950C>A (p.Ser1317Tyr) c.3851C>A (p.Ser1284Tyr) c.4265C>A (p.Ser1422Tyr) c.3929-7C>A (n.3929-7C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763436A= | CA2206692718 | GRIN2A | c.4108T= (p.Ser1370=) c.3302-8T= (n.3302-8T=) n.3366-8T= c.3637T= (p.Ser1213=) c.*1478T= (n.*1478T=) c.3697T= (p.Ser1233=) n.3412-8T= c.3362-8T= (n.3362-8T=) c.3773-8T= (n.3773-8T=) c.3949T= (p.Ser1317=) c.3850T= (p.Ser1284=) c.4264T= (p.Ser1422=) c.3929-8T= (n.3929-8T=) | |
16 | g.9763436A>C | CA394706083 | GRIN2A | c.4108T>G (p.Ser1370Ala) c.3302-8T>G (n.3302-8T>G) n.3366-8T>G c.3637T>G (p.Ser1213Ala) c.*1478T>G (n.*1478T>G) c.3697T>G (p.Ser1233Ala) n.3412-8T>G c.3362-8T>G (n.3362-8T>G) c.3773-8T>G (n.3773-8T>G) c.3949T>G (p.Ser1317Ala) c.3850T>G (p.Ser1284Ala) c.4264T>G (p.Ser1422Ala) c.3929-8T>G (n.3929-8T>G) | |
16 | g.9763436A>G | CA394706082 | GRIN2A | c.4108T>C (p.Ser1370Pro) c.3302-8T>C (n.3302-8T>C) n.3366-8T>C c.3637T>C (p.Ser1213Pro) c.*1478T>C (n.*1478T>C) c.3697T>C (p.Ser1233Pro) n.3412-8T>C c.3362-8T>C (n.3362-8T>C) c.3773-8T>C (n.3773-8T>C) c.3949T>C (p.Ser1317Pro) c.3850T>C (p.Ser1284Pro) c.4264T>C (p.Ser1422Pro) c.3929-8T>C (n.3929-8T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763436A>T | CA394706081 | GRIN2A | c.4108T>A (p.Ser1370Thr) c.3302-8T>A (n.3302-8T>A) n.3366-8T>A c.3637T>A (p.Ser1213Thr) c.*1478T>A (n.*1478T>A) c.3697T>A (p.Ser1233Thr) n.3412-8T>A c.3362-8T>A (n.3362-8T>A) c.3773-8T>A (n.3773-8T>A) c.3949T>A (p.Ser1317Thr) c.3850T>A (p.Ser1284Thr) c.4264T>A (p.Ser1422Thr) c.3929-8T>A (n.3929-8T>A) | dbSNP |
16 | g.9763437G>A | CA493692620 | GRIN2A | c.4107C>T (p.His1369=) c.3302-9C>T (n.3302-9C>T) n.3366-9C>T c.3636C>T (p.His1212=) c.*1477C>T (n.*1477C>T) c.3696C>T (p.His1232=) n.3412-9C>T c.3362-9C>T (n.3362-9C>T) c.3773-9C>T (n.3773-9C>T) c.3948C>T (p.His1316=) c.3849C>T (p.His1283=) c.4263C>T (p.His1421=) c.3929-9C>T (n.3929-9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9763437G>C | CA394706085 | GRIN2A | c.4107C>G (p.His1369Gln) c.3302-9C>G (n.3302-9C>G) n.3366-9C>G c.3636C>G (p.His1212Gln) c.*1477C>G (n.*1477C>G) c.3696C>G (p.His1232Gln) n.3412-9C>G c.3362-9C>G (n.3362-9C>G) c.3773-9C>G (n.3773-9C>G) c.3948C>G (p.His1316Gln) c.3849C>G (p.His1283Gln) c.4263C>G (p.His1421Gln) c.3929-9C>G (n.3929-9C>G) | dbSNP |
16 | g.9763437G= | CA2206692719 | GRIN2A | c.4107C= (p.His1369=) c.3302-9C= (n.3302-9C=) n.3366-9C= c.3636C= (p.His1212=) c.*1477C= (n.*1477C=) c.3696C= (p.His1232=) n.3412-9C= c.3362-9C= (n.3362-9C=) c.3773-9C= (n.3773-9C=) c.3948C= (p.His1316=) c.3849C= (p.His1283=) c.4263C= (p.His1421=) c.3929-9C= (n.3929-9C=) | |
16 | g.9763437G>T | CA394706084 | GRIN2A | c.4107C>A (p.His1369Gln) c.3302-9C>A (n.3302-9C>A) n.3366-9C>A c.3636C>A (p.His1212Gln) c.*1477C>A (n.*1477C>A) c.3696C>A (p.His1232Gln) n.3412-9C>A c.3362-9C>A (n.3362-9C>A) c.3773-9C>A (n.3773-9C>A) c.3948C>A (p.His1316Gln) c.3849C>A (p.His1283Gln) c.4263C>A (p.His1421Gln) c.3929-9C>A (n.3929-9C>A) | |
16 | g.9763438T>A | CA394706086 | GRIN2A | c.4106A>T (p.His1369Leu) c.3302-10A>T (n.3302-10A>T) n.3366-10A>T c.3635A>T (p.His1212Leu) c.*1476A>T (n.*1476A>T) c.3695A>T (p.His1232Leu) n.3412-10A>T c.3362-10A>T (n.3362-10A>T) c.3773-10A>T (n.3773-10A>T) c.3947A>T (p.His1316Leu) c.3848A>T (p.His1283Leu) c.4262A>T (p.His1421Leu) c.3929-10A>T (n.3929-10A>T) | |
16 | g.9763438T>C | CA394706087 | GRIN2A | c.4106A>G (p.His1369Arg) c.3302-10A>G (n.3302-10A>G) n.3366-10A>G c.3635A>G (p.His1212Arg) c.*1476A>G (n.*1476A>G) c.3695A>G (p.His1232Arg) n.3412-10A>G c.3362-10A>G (n.3362-10A>G) c.3773-10A>G (n.3773-10A>G) c.3947A>G (p.His1316Arg) c.3848A>G (p.His1283Arg) c.4262A>G (p.His1421Arg) c.3929-10A>G (n.3929-10A>G) | |
16 | g.9763438T>G | CA394706088 | GRIN2A | c.4106A>C (p.His1369Pro) c.3302-10A>C (n.3302-10A>C) n.3366-10A>C c.3635A>C (p.His1212Pro) c.*1476A>C (n.*1476A>C) c.3695A>C (p.His1232Pro) n.3412-10A>C c.3362-10A>C (n.3362-10A>C) c.3773-10A>C (n.3773-10A>C) c.3947A>C (p.His1316Pro) c.3848A>C (p.His1283Pro) c.4262A>C (p.His1421Pro) c.3929-10A>C (n.3929-10A>C) | |
16 | g.9763439G>A | CA394706089 | GRIN2A | c.4105C>T (p.His1369Tyr) c.3302-11C>T (n.3302-11C>T) n.3366-11C>T c.3634C>T (p.His1212Tyr) c.*1475C>T (n.*1475C>T) c.3694C>T (p.His1232Tyr) n.3412-11C>T c.3362-11C>T (n.3362-11C>T) c.3773-11C>T (n.3773-11C>T) c.3946C>T (p.His1316Tyr) c.3847C>T (p.His1283Tyr) c.4261C>T (p.His1421Tyr) c.3929-11C>T (n.3929-11C>T) | dbSNP |
16 | g.9763439G>C | CA394706090 | GRIN2A | c.4105C>G (p.His1369Asp) c.3302-11C>G (n.3302-11C>G) n.3366-11C>G c.3634C>G (p.His1212Asp) c.*1475C>G (n.*1475C>G) c.3694C>G (p.His1232Asp) n.3412-11C>G c.3362-11C>G (n.3362-11C>G) c.3773-11C>G (n.3773-11C>G) c.3946C>G (p.His1316Asp) c.3847C>G (p.His1283Asp) c.4261C>G (p.His1421Asp) c.3929-11C>G (n.3929-11C>G) | |
16 | g.9763439G= | CA2206692720 | GRIN2A | c.4105C= (p.His1369=) c.3302-11C= (n.3302-11C=) n.3366-11C= c.3634C= (p.His1212=) c.*1475C= (n.*1475C=) c.3694C= (p.His1232=) n.3412-11C= c.3362-11C= (n.3362-11C=) c.3773-11C= (n.3773-11C=) c.3946C= (p.His1316=) c.3847C= (p.His1283=) c.4261C= (p.His1421=) c.3929-11C= (n.3929-11C=) | |
16 | g.9763439G>T | CA394706091 | GRIN2A | c.4105C>A (p.His1369Asn) c.3302-11C>A (n.3302-11C>A) n.3366-11C>A c.3634C>A (p.His1212Asn) c.*1475C>A (n.*1475C>A) c.3694C>A (p.His1232Asn) n.3412-11C>A c.3362-11C>A (n.3362-11C>A) c.3773-11C>A (n.3773-11C>A) c.3946C>A (p.His1316Asn) c.3847C>A (p.His1283Asn) c.4261C>A (p.His1421Asn) c.3929-11C>A (n.3929-11C>A) | dbSNP |
16 | g.9763440G>A | CA493692627 | GRIN2A | c.4104C>T (p.Leu1368=) c.3302-12C>T (n.3302-12C>T) n.3366-12C>T c.3633C>T (p.Leu1211=) c.*1474C>T (n.*1474C>T) c.3693C>T (p.Leu1231=) n.3412-12C>T c.3362-12C>T (n.3362-12C>T) c.3773-12C>T (n.3773-12C>T) c.3945C>T (p.Leu1315=) c.3846C>T (p.Leu1282=) c.4260C>T (p.Leu1420=) c.3929-12C>T (n.3929-12C>T) | dbSNP |
16 | g.9763440G>C | CA493692626 | GRIN2A | c.4104C>G (p.Leu1368=) c.3302-12C>G (n.3302-12C>G) n.3366-12C>G c.3633C>G (p.Leu1211=) c.*1474C>G (n.*1474C>G) c.3693C>G (p.Leu1231=) n.3412-12C>G c.3362-12C>G (n.3362-12C>G) c.3773-12C>G (n.3773-12C>G) c.3945C>G (p.Leu1315=) c.3846C>G (p.Leu1282=) c.4260C>G (p.Leu1420=) c.3929-12C>G (n.3929-12C>G) | dbSNP |
16 | g.9763440G>T | CA493692625 | GRIN2A | c.4104C>A (p.Leu1368=) c.3302-12C>A (n.3302-12C>A) n.3366-12C>A c.3633C>A (p.Leu1211=) c.*1474C>A (n.*1474C>A) c.3693C>A (p.Leu1231=) n.3412-12C>A c.3362-12C>A (n.3362-12C>A) c.3773-12C>A (n.3773-12C>A) c.3945C>A (p.Leu1315=) c.3846C>A (p.Leu1282=) c.4260C>A (p.Leu1420=) c.3929-12C>A (n.3929-12C>A) | |
16 | g.9763441A>C | CA394706092 | GRIN2A | c.4103T>G (p.Leu1368Arg) c.3302-13T>G (n.3302-13T>G) n.3366-13T>G c.3632T>G (p.Leu1211Arg) c.*1473T>G (n.*1473T>G) c.3692T>G (p.Leu1231Arg) n.3412-13T>G c.3362-13T>G (n.3362-13T>G) c.3773-13T>G (n.3773-13T>G) c.3944T>G (p.Leu1315Arg) c.3845T>G (p.Leu1282Arg) c.4259T>G (p.Leu1420Arg) c.3929-13T>G (n.3929-13T>G) | |
16 | g.9763441A>G | CA394706093 | GRIN2A | c.4103T>C (p.Leu1368Pro) c.3302-13T>C (n.3302-13T>C) n.3366-13T>C c.3632T>C (p.Leu1211Pro) c.*1473T>C (n.*1473T>C) c.3692T>C (p.Leu1231Pro) n.3412-13T>C c.3362-13T>C (n.3362-13T>C) c.3773-13T>C (n.3773-13T>C) c.3944T>C (p.Leu1315Pro) c.3845T>C (p.Leu1282Pro) c.4259T>C (p.Leu1420Pro) c.3929-13T>C (n.3929-13T>C) | dbSNP |
16 | g.9763441A>T | CA394706094 | GRIN2A | c.4103T>A (p.Leu1368His) c.3302-13T>A (n.3302-13T>A) n.3366-13T>A c.3632T>A (p.Leu1211His) c.*1473T>A (n.*1473T>A) c.3692T>A (p.Leu1231His) n.3412-13T>A c.3362-13T>A (n.3362-13T>A) c.3773-13T>A (n.3773-13T>A) c.3944T>A (p.Leu1315His) c.3845T>A (p.Leu1282His) c.4259T>A (p.Leu1420His) c.3929-13T>A (n.3929-13T>A) | dbSNP |
16 | g.9763442G>A | CA394706095 | GRIN2A | c.4102C>T (p.Leu1368Phe) c.3302-14C>T (n.3302-14C>T) n.3366-14C>T c.3631C>T (p.Leu1211Phe) c.*1472C>T (n.*1472C>T) c.3691C>T (p.Leu1231Phe) n.3412-14C>T c.3362-14C>T (n.3362-14C>T) c.3773-14C>T (n.3773-14C>T) c.3943C>T (p.Leu1315Phe) c.3844C>T (p.Leu1282Phe) c.4258C>T (p.Leu1420Phe) c.3929-14C>T (n.3929-14C>T) | dbSNP |
16 | g.9763442G>C | CA394706096 | GRIN2A | c.4102C>G (p.Leu1368Val) c.3302-14C>G (n.3302-14C>G) n.3366-14C>G c.3631C>G (p.Leu1211Val) c.*1472C>G (n.*1472C>G) c.3691C>G (p.Leu1231Val) n.3412-14C>G c.3362-14C>G (n.3362-14C>G) c.3773-14C>G (n.3773-14C>G) c.3943C>G (p.Leu1315Val) c.3844C>G (p.Leu1282Val) c.4258C>G (p.Leu1420Val) c.3929-14C>G (n.3929-14C>G) | |
16 | g.9763442G>T | CA394706097 | GRIN2A | c.4102C>A (p.Leu1368Ile) c.3302-14C>A (n.3302-14C>A) n.3366-14C>A c.3631C>A (p.Leu1211Ile) c.*1472C>A (n.*1472C>A) c.3691C>A (p.Leu1231Ile) n.3412-14C>A c.3362-14C>A (n.3362-14C>A) c.3773-14C>A (n.3773-14C>A) c.3943C>A (p.Leu1315Ile) c.3844C>A (p.Leu1282Ile) c.4258C>A (p.Leu1420Ile) c.3929-14C>A (n.3929-14C>A) | dbSNP |
16 | g.9763443G>A | CA493692632 | GRIN2A | c.4101C>T (p.Phe1367=) c.3302-15C>T (n.3302-15C>T) n.3366-15C>T c.3630C>T (p.Phe1210=) c.*1471C>T (n.*1471C>T) c.3690C>T (p.Phe1230=) n.3412-15C>T c.3362-15C>T (n.3362-15C>T) c.3773-15C>T (n.3773-15C>T) c.3942C>T (p.Phe1314=) c.3843C>T (p.Phe1281=) c.4257C>T (p.Phe1419=) c.3929-15C>T (n.3929-15C>T) | dbSNP COSMIC |
16 | g.9763443G>C | CA394706099 | GRIN2A | c.4101C>G (p.Phe1367Leu) c.3302-15C>G (n.3302-15C>G) n.3366-15C>G c.3630C>G (p.Phe1210Leu) c.*1471C>G (n.*1471C>G) c.3690C>G (p.Phe1230Leu) n.3412-15C>G c.3362-15C>G (n.3362-15C>G) c.3773-15C>G (n.3773-15C>G) c.3942C>G (p.Phe1314Leu) c.3843C>G (p.Phe1281Leu) c.4257C>G (p.Phe1419Leu) c.3929-15C>G (n.3929-15C>G) | dbSNP |
16 | g.9763443G>T | CA394706098 | GRIN2A | c.4101C>A (p.Phe1367Leu) c.3302-15C>A (n.3302-15C>A) n.3366-15C>A c.3630C>A (p.Phe1210Leu) c.*1471C>A (n.*1471C>A) c.3690C>A (p.Phe1230Leu) n.3412-15C>A c.3362-15C>A (n.3362-15C>A) c.3773-15C>A (n.3773-15C>A) c.3942C>A (p.Phe1314Leu) c.3843C>A (p.Phe1281Leu) c.4257C>A (p.Phe1419Leu) c.3929-15C>A (n.3929-15C>A) | dbSNP |
16 | g.9763444A>C | CA394706100 | GRIN2A | c.4100T>G (p.Phe1367Cys) c.3302-16T>G (n.3302-16T>G) n.3366-16T>G c.3629T>G (p.Phe1210Cys) c.*1470T>G (n.*1470T>G) c.3689T>G (p.Phe1230Cys) n.3412-16T>G c.3362-16T>G (n.3362-16T>G) c.3773-16T>G (n.3773-16T>G) c.3941T>G (p.Phe1314Cys) c.3842T>G (p.Phe1281Cys) c.4256T>G (p.Phe1419Cys) c.3929-16T>G (n.3929-16T>G) | |
16 | g.9763444A>G | CA394706101 | GRIN2A | c.4100T>C (p.Phe1367Ser) c.3302-16T>C (n.3302-16T>C) n.3366-16T>C c.3629T>C (p.Phe1210Ser) c.*1470T>C (n.*1470T>C) c.3689T>C (p.Phe1230Ser) n.3412-16T>C c.3362-16T>C (n.3362-16T>C) c.3773-16T>C (n.3773-16T>C) c.3941T>C (p.Phe1314Ser) c.3842T>C (p.Phe1281Ser) c.4256T>C (p.Phe1419Ser) c.3929-16T>C (n.3929-16T>C) | |
16 | g.9763444A>T | CA394706102 | GRIN2A | c.4100T>A (p.Phe1367Tyr) c.3302-16T>A (n.3302-16T>A) n.3366-16T>A c.3629T>A (p.Phe1210Tyr) c.*1470T>A (n.*1470T>A) c.3689T>A (p.Phe1230Tyr) n.3412-16T>A c.3362-16T>A (n.3362-16T>A) c.3773-16T>A (n.3773-16T>A) c.3941T>A (p.Phe1314Tyr) c.3842T>A (p.Phe1281Tyr) c.4256T>A (p.Phe1419Tyr) c.3929-16T>A (n.3929-16T>A) | |
16 | g.9763445A= | CA2206692721 | GRIN2A | c.4099T= (p.Phe1367=) c.3302-17T= (n.3302-17T=) n.3366-17T= c.3628T= (p.Phe1210=) c.*1469T= (n.*1469T=) c.3688T= (p.Phe1230=) n.3412-17T= c.3362-17T= (n.3362-17T=) c.3773-17T= (n.3773-17T=) c.3940T= (p.Phe1314=) c.3841T= (p.Phe1281=) c.4255T= (p.Phe1419=) c.3929-17T= (n.3929-17T=) | |
16 | g.9763445A>C | CA394706103 | GRIN2A | c.4099T>G (p.Phe1367Val) c.3302-17T>G (n.3302-17T>G) n.3366-17T>G c.3628T>G (p.Phe1210Val) c.*1469T>G (n.*1469T>G) c.3688T>G (p.Phe1230Val) n.3412-17T>G c.3362-17T>G (n.3362-17T>G) c.3773-17T>G (n.3773-17T>G) c.3940T>G (p.Phe1314Val) c.3841T>G (p.Phe1281Val) c.4255T>G (p.Phe1419Val) c.3929-17T>G (n.3929-17T>G) | |
16 | g.9763445A>G | CA394706104 | GRIN2A | c.4099T>C (p.Phe1367Leu) c.3302-17T>C (n.3302-17T>C) n.3366-17T>C c.3628T>C (p.Phe1210Leu) c.*1469T>C (n.*1469T>C) c.3688T>C (p.Phe1230Leu) n.3412-17T>C c.3362-17T>C (n.3362-17T>C) c.3773-17T>C (n.3773-17T>C) c.3940T>C (p.Phe1314Leu) c.3841T>C (p.Phe1281Leu) c.4255T>C (p.Phe1419Leu) c.3929-17T>C (n.3929-17T>C) | dbSNP |
16 | g.9763445A>T | CA394706105 | GRIN2A | c.4099T>A (p.Phe1367Ile) c.3302-17T>A (n.3302-17T>A) n.3366-17T>A c.3628T>A (p.Phe1210Ile) c.*1469T>A (n.*1469T>A) c.3688T>A (p.Phe1230Ile) n.3412-17T>A c.3362-17T>A (n.3362-17T>A) c.3773-17T>A (n.3773-17T>A) c.3940T>A (p.Phe1314Ile) c.3841T>A (p.Phe1281Ile) c.4255T>A (p.Phe1419Ile) c.3929-17T>A (n.3929-17T>A) | |
16 | g.9763446A>C | CA493692633 | GRIN2A | c.4098T>G (p.Pro1366=) c.3302-18T>G (n.3302-18T>G) n.3366-18T>G c.3627T>G (p.Pro1209=) c.*1468T>G (n.*1468T>G) c.3687T>G (p.Pro1229=) n.3412-18T>G c.3362-18T>G (n.3362-18T>G) c.3773-18T>G (n.3773-18T>G) c.3939T>G (p.Pro1313=) c.3840T>G (p.Pro1280=) c.4254T>G (p.Pro1418=) c.3929-18T>G (n.3929-18T>G) | |
16 | g.9763446A>G | CA493692636 | GRIN2A | c.4098T>C (p.Pro1366=) c.3302-18T>C (n.3302-18T>C) n.3366-18T>C c.3627T>C (p.Pro1209=) c.*1468T>C (n.*1468T>C) c.3687T>C (p.Pro1229=) n.3412-18T>C c.3362-18T>C (n.3362-18T>C) c.3773-18T>C (n.3773-18T>C) c.3939T>C (p.Pro1313=) c.3840T>C (p.Pro1280=) c.4254T>C (p.Pro1418=) c.3929-18T>C (n.3929-18T>C) | dbSNP |
16 | g.9763446A>T | CA493692635 | GRIN2A | c.4098T>A (p.Pro1366=) c.3302-18T>A (n.3302-18T>A) n.3366-18T>A c.3627T>A (p.Pro1209=) c.*1468T>A (n.*1468T>A) c.3687T>A (p.Pro1229=) n.3412-18T>A c.3362-18T>A (n.3362-18T>A) c.3773-18T>A (n.3773-18T>A) c.3939T>A (p.Pro1313=) c.3840T>A (p.Pro1280=) c.4254T>A (p.Pro1418=) c.3929-18T>A (n.3929-18T>A) | dbSNP |
16 | g.9763447G>A | CA394706106 | GRIN2A | c.4097C>T (p.Pro1366Leu) c.3302-19C>T (n.3302-19C>T) n.3366-19C>T c.3626C>T (p.Pro1209Leu) c.*1467C>T (n.*1467C>T) c.3686C>T (p.Pro1229Leu) n.3412-19C>T c.3362-19C>T (n.3362-19C>T) c.3773-19C>T (n.3773-19C>T) c.3938C>T (p.Pro1313Leu) c.3839C>T (p.Pro1280Leu) c.4253C>T (p.Pro1418Leu) c.3929-19C>T (n.3929-19C>T) | dbSNP COSMIC |
16 | g.9763447G>C | CA394706107 | GRIN2A | c.4097C>G (p.Pro1366Arg) c.3302-19C>G (n.3302-19C>G) n.3366-19C>G c.3626C>G (p.Pro1209Arg) c.*1467C>G (n.*1467C>G) c.3686C>G (p.Pro1229Arg) n.3412-19C>G c.3362-19C>G (n.3362-19C>G) c.3773-19C>G (n.3773-19C>G) c.3938C>G (p.Pro1313Arg) c.3839C>G (p.Pro1280Arg) c.4253C>G (p.Pro1418Arg) c.3929-19C>G (n.3929-19C>G) | dbSNP gnomAD v4 |
16 | g.9763447G>T | CA394706108 | GRIN2A | c.4097C>A (p.Pro1366His) c.3302-19C>A (n.3302-19C>A) n.3366-19C>A c.3626C>A (p.Pro1209His) c.*1467C>A (n.*1467C>A) c.3686C>A (p.Pro1229His) n.3412-19C>A c.3362-19C>A (n.3362-19C>A) c.3773-19C>A (n.3773-19C>A) c.3938C>A (p.Pro1313His) c.3839C>A (p.Pro1280His) c.4253C>A (p.Pro1418His) c.3929-19C>A (n.3929-19C>A) | dbSNP |
16 | g.9763447_9763448delinsAA | CA645570177 | GRIN2A | c.4096_4097delinsTT (p.Pro1366Phe) c.3302-20_3302-19delinsTT (n.3302-20_3302-19delinsTT) n.3366-20_3366-19delinsTT c.3625_3626delinsTT (p.Pro1209Phe) c.*1466_*1467delinsTT (n.*1466_*1467delinsTT) c.3685_3686delinsTT (p.Pro1229Phe) n.3412-20_3412-19delinsTT c.3362-20_3362-19delinsTT (n.3362-20_3362-19delinsTT) c.3773-20_3773-19delinsTT (n.3773-20_3773-19delinsTT) c.3937_3938delinsTT (p.Pro1313Phe) c.3838_3839delinsTT (p.Pro1280Phe) c.4252_4253delinsTT (p.Pro1418Phe) c.3929-20_3929-19delinsTT (n.3929-20_3929-19delinsTT) | COSMIC |
16 | g.9763448G>A | CA16607504 | GRIN2A | c.4096C>T (p.Pro1366Ser) c.3302-20C>T (n.3302-20C>T) n.3366-20C>T c.3625C>T (p.Pro1209Ser) c.*1466C>T (n.*1466C>T) c.3685C>T (p.Pro1229Ser) n.3412-20C>T c.3362-20C>T (n.3362-20C>T) c.3773-20C>T (n.3773-20C>T) c.3937C>T (p.Pro1313Ser) c.3838C>T (p.Pro1280Ser) c.4252C>T (p.Pro1418Ser) c.3929-20C>T (n.3929-20C>T) | ClinVar dbSNP COSMIC |
16 | g.9763448G>C | CA7896212 | GRIN2A | c.4096C>G (p.Pro1366Ala) c.3302-20C>G (n.3302-20C>G) n.3366-20C>G c.3625C>G (p.Pro1209Ala) c.*1466C>G (n.*1466C>G) c.3685C>G (p.Pro1229Ala) n.3412-20C>G c.3362-20C>G (n.3362-20C>G) c.3773-20C>G (n.3773-20C>G) c.3937C>G (p.Pro1313Ala) c.3838C>G (p.Pro1280Ala) c.4252C>G (p.Pro1418Ala) c.3929-20C>G (n.3929-20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763448G= | CA2206692722 | GRIN2A | c.4096C= (p.Pro1366=) c.3302-20C= (n.3302-20C=) n.3366-20C= c.3625C= (p.Pro1209=) c.*1466C= (n.*1466C=) c.3685C= (p.Pro1229=) n.3412-20C= c.3362-20C= (n.3362-20C=) c.3773-20C= (n.3773-20C=) c.3937C= (p.Pro1313=) c.3838C= (p.Pro1280=) c.4252C= (p.Pro1418=) c.3929-20C= (n.3929-20C=) | |
16 | g.9763448G>T | CA394706109 | GRIN2A | c.4096C>A (p.Pro1366Thr) c.3302-20C>A (n.3302-20C>A) n.3366-20C>A c.3625C>A (p.Pro1209Thr) c.*1466C>A (n.*1466C>A) c.3685C>A (p.Pro1229Thr) n.3412-20C>A c.3362-20C>A (n.3362-20C>A) c.3773-20C>A (n.3773-20C>A) c.3937C>A (p.Pro1313Thr) c.3838C>A (p.Pro1280Thr) c.4252C>A (p.Pro1418Thr) c.3929-20C>A (n.3929-20C>A) | dbSNP |
16 | g.9763449G>A | CA493692637 | GRIN2A | c.4095C>T (p.Asn1365=) c.3302-21C>T (n.3302-21C>T) n.3366-21C>T c.3624C>T (p.Asn1208=) c.*1465C>T (n.*1465C>T) c.3684C>T (p.Asn1228=) n.3412-21C>T c.3362-21C>T (n.3362-21C>T) c.3773-21C>T (n.3773-21C>T) c.3936C>T (p.Asn1312=) c.3837C>T (p.Asn1279=) c.4251C>T (p.Asn1417=) c.3929-21C>T (n.3929-21C>T) | ClinVar |
16 | g.9763449G>C | CA394706110 | GRIN2A | c.4095C>G (p.Asn1365Lys) c.3302-21C>G (n.3302-21C>G) n.3366-21C>G c.3624C>G (p.Asn1208Lys) c.*1465C>G (n.*1465C>G) c.3684C>G (p.Asn1228Lys) n.3412-21C>G c.3362-21C>G (n.3362-21C>G) c.3773-21C>G (n.3773-21C>G) c.3936C>G (p.Asn1312Lys) c.3837C>G (p.Asn1279Lys) c.4251C>G (p.Asn1417Lys) c.3929-21C>G (n.3929-21C>G) | dbSNP gnomAD v4 |
16 | g.9763449G>T | CA394706111 | GRIN2A | c.4095C>A (p.Asn1365Lys) c.3302-21C>A (n.3302-21C>A) n.3366-21C>A c.3624C>A (p.Asn1208Lys) c.*1465C>A (n.*1465C>A) c.3684C>A (p.Asn1228Lys) n.3412-21C>A c.3362-21C>A (n.3362-21C>A) c.3773-21C>A (n.3773-21C>A) c.3936C>A (p.Asn1312Lys) c.3837C>A (p.Asn1279Lys) c.4251C>A (p.Asn1417Lys) c.3929-21C>A (n.3929-21C>A) | |
16 | g.9763450T>A | CA394706114 | GRIN2A | c.4094A>T (p.Asn1365Ile) c.3302-22A>T (n.3302-22A>T) n.3366-22A>T c.3623A>T (p.Asn1208Ile) c.*1464A>T (n.*1464A>T) c.3683A>T (p.Asn1228Ile) n.3412-22A>T c.3362-22A>T (n.3362-22A>T) c.3773-22A>T (n.3773-22A>T) c.3935A>T (p.Asn1312Ile) c.3836A>T (p.Asn1279Ile) c.4250A>T (p.Asn1417Ile) c.3929-22A>T (n.3929-22A>T) | dbSNP |
16 | g.9763450T>C | CA394706113 | GRIN2A | c.4094A>G (p.Asn1365Ser) c.3302-22A>G (n.3302-22A>G) n.3366-22A>G c.3623A>G (p.Asn1208Ser) c.*1464A>G (n.*1464A>G) c.3683A>G (p.Asn1228Ser) n.3412-22A>G c.3362-22A>G (n.3362-22A>G) c.3773-22A>G (n.3773-22A>G) c.3935A>G (p.Asn1312Ser) c.3836A>G (p.Asn1279Ser) c.4250A>G (p.Asn1417Ser) c.3929-22A>G (n.3929-22A>G) | dbSNP |
16 | g.9763450T>G | CA394706112 | GRIN2A | c.4094A>C (p.Asn1365Thr) c.3302-22A>C (n.3302-22A>C) n.3366-22A>C c.3623A>C (p.Asn1208Thr) c.*1464A>C (n.*1464A>C) c.3683A>C (p.Asn1228Thr) n.3412-22A>C c.3362-22A>C (n.3362-22A>C) c.3773-22A>C (n.3773-22A>C) c.3935A>C (p.Asn1312Thr) c.3836A>C (p.Asn1279Thr) c.4250A>C (p.Asn1417Thr) c.3929-22A>C (n.3929-22A>C) | dbSNP |
16 | g.9763451T>A | CA394706115 | GRIN2A | c.4093A>T (p.Asn1365Tyr) c.3302-23A>T (n.3302-23A>T) n.3366-23A>T c.3622A>T (p.Asn1208Tyr) c.*1463A>T (n.*1463A>T) c.3682A>T (p.Asn1228Tyr) n.3412-23A>T c.3362-23A>T (n.3362-23A>T) c.3773-23A>T (n.3773-23A>T) c.3934A>T (p.Asn1312Tyr) c.3835A>T (p.Asn1279Tyr) c.4249A>T (p.Asn1417Tyr) c.3929-23A>T (n.3929-23A>T) | |
16 | g.9763451T>C | CA394706116 | GRIN2A | c.4093A>G (p.Asn1365Asp) c.3302-23A>G (n.3302-23A>G) n.3366-23A>G c.3622A>G (p.Asn1208Asp) c.*1463A>G (n.*1463A>G) c.3682A>G (p.Asn1228Asp) n.3412-23A>G c.3362-23A>G (n.3362-23A>G) c.3773-23A>G (n.3773-23A>G) c.3934A>G (p.Asn1312Asp) c.3835A>G (p.Asn1279Asp) c.4249A>G (p.Asn1417Asp) c.3929-23A>G (n.3929-23A>G) | |
16 | g.9763451T>G | CA394706117 | GRIN2A | c.4093A>C (p.Asn1365His) c.3302-23A>C (n.3302-23A>C) n.3366-23A>C c.3622A>C (p.Asn1208His) c.*1463A>C (n.*1463A>C) c.3682A>C (p.Asn1228His) n.3412-23A>C c.3362-23A>C (n.3362-23A>C) c.3773-23A>C (n.3773-23A>C) c.3934A>C (p.Asn1312His) c.3835A>C (p.Asn1279His) c.4249A>C (p.Asn1417His) c.3929-23A>C (n.3929-23A>C) | |
16 | g.9763452A>C | CA394706118 | GRIN2A | c.4092T>G (p.Asp1364Glu) c.3302-24T>G (n.3302-24T>G) n.3366-24T>G c.3621T>G (p.Asp1207Glu) c.*1462T>G (n.*1462T>G) c.3681T>G (p.Asp1227Glu) n.3412-24T>G c.3362-24T>G (n.3362-24T>G) c.3773-24T>G (n.3773-24T>G) c.3933T>G (p.Asp1311Glu) c.3834T>G (p.Asp1278Glu) c.4248T>G (p.Asp1416Glu) c.3929-24T>G (n.3929-24T>G) | dbSNP |
16 | g.9763452A>G | CA493692720 | GRIN2A | c.4092T>C (p.Asp1364=) c.3302-24T>C (n.3302-24T>C) n.3366-24T>C c.3621T>C (p.Asp1207=) c.*1462T>C (n.*1462T>C) c.3681T>C (p.Asp1227=) n.3412-24T>C c.3362-24T>C (n.3362-24T>C) c.3773-24T>C (n.3773-24T>C) c.3933T>C (p.Asp1311=) c.3834T>C (p.Asp1278=) c.4248T>C (p.Asp1416=) c.3929-24T>C (n.3929-24T>C) | |
16 | g.9763452A>T | CA394706119 | GRIN2A | c.4092T>A (p.Asp1364Glu) c.3302-24T>A (n.3302-24T>A) n.3366-24T>A c.3621T>A (p.Asp1207Glu) c.*1462T>A (n.*1462T>A) c.3681T>A (p.Asp1227Glu) n.3412-24T>A c.3362-24T>A (n.3362-24T>A) c.3773-24T>A (n.3773-24T>A) c.3933T>A (p.Asp1311Glu) c.3834T>A (p.Asp1278Glu) c.4248T>A (p.Asp1416Glu) c.3929-24T>A (n.3929-24T>A) | |
16 | g.9763453T>A | CA394706120 | GRIN2A | c.4091A>T (p.Asp1364Val) c.3302-25A>T (n.3302-25A>T) n.3366-25A>T c.3620A>T (p.Asp1207Val) c.*1461A>T (n.*1461A>T) c.3680A>T (p.Asp1227Val) n.3412-25A>T c.3362-25A>T (n.3362-25A>T) c.3773-25A>T (n.3773-25A>T) c.3932A>T (p.Asp1311Val) c.3833A>T (p.Asp1278Val) c.4247A>T (p.Asp1416Val) c.3929-25A>T (n.3929-25A>T) | |
16 | g.9763453T>C | CA394706121 | GRIN2A | c.4091A>G (p.Asp1364Gly) c.3302-25A>G (n.3302-25A>G) n.3366-25A>G c.3620A>G (p.Asp1207Gly) c.*1461A>G (n.*1461A>G) c.3680A>G (p.Asp1227Gly) n.3412-25A>G c.3362-25A>G (n.3362-25A>G) c.3773-25A>G (n.3773-25A>G) c.3932A>G (p.Asp1311Gly) c.3833A>G (p.Asp1278Gly) c.4247A>G (p.Asp1416Gly) c.3929-25A>G (n.3929-25A>G) | |
16 | g.9763453T>G | CA394706122 | GRIN2A | c.4091A>C (p.Asp1364Ala) c.3302-25A>C (n.3302-25A>C) n.3366-25A>C c.3620A>C (p.Asp1207Ala) c.*1461A>C (n.*1461A>C) c.3680A>C (p.Asp1227Ala) n.3412-25A>C c.3362-25A>C (n.3362-25A>C) c.3773-25A>C (n.3773-25A>C) c.3932A>C (p.Asp1311Ala) c.3833A>C (p.Asp1278Ala) c.4247A>C (p.Asp1416Ala) c.3929-25A>C (n.3929-25A>C) | |
16 | g.9763454C>A | CA394706123 | GRIN2A | c.4090G>T (p.Asp1364Tyr) c.3302-26G>T (n.3302-26G>T) n.3366-26G>T c.3619G>T (p.Asp1207Tyr) c.*1460G>T (n.*1460G>T) c.3679G>T (p.Asp1227Tyr) n.3412-26G>T c.3362-26G>T (n.3362-26G>T) c.3773-26G>T (n.3773-26G>T) c.3931G>T (p.Asp1311Tyr) c.3832G>T (p.Asp1278Tyr) c.4246G>T (p.Asp1416Tyr) c.3929-26G>T (n.3929-26G>T) | dbSNP |
16 | g.9763454C= | CA2206692723 | GRIN2A | c.4090G= (p.Asp1364=) c.3302-26G= (n.3302-26G=) n.3366-26G= c.3619G= (p.Asp1207=) c.*1460G= (n.*1460G=) c.3679G= (p.Asp1227=) n.3412-26G= c.3362-26G= (n.3362-26G=) c.3773-26G= (n.3773-26G=) c.3931G= (p.Asp1311=) c.3832G= (p.Asp1278=) c.4246G= (p.Asp1416=) c.3929-26G= (n.3929-26G=) | |
16 | g.9763454C>G | CA394706125 | GRIN2A | c.4090G>C (p.Asp1364His) c.3302-26G>C (n.3302-26G>C) n.3366-26G>C c.3619G>C (p.Asp1207His) c.*1460G>C (n.*1460G>C) c.3679G>C (p.Asp1227His) n.3412-26G>C c.3362-26G>C (n.3362-26G>C) c.3773-26G>C (n.3773-26G>C) c.3931G>C (p.Asp1311His) c.3832G>C (p.Asp1278His) c.4246G>C (p.Asp1416His) c.3929-26G>C (n.3929-26G>C) | dbSNP |
16 | g.9763454C>T | CA394706124 | GRIN2A | c.4090G>A (p.Asp1364Asn) c.3302-26G>A (n.3302-26G>A) n.3366-26G>A c.3619G>A (p.Asp1207Asn) c.*1460G>A (n.*1460G>A) c.3679G>A (p.Asp1227Asn) n.3412-26G>A c.3362-26G>A (n.3362-26G>A) c.3773-26G>A (n.3773-26G>A) c.3931G>A (p.Asp1311Asn) c.3832G>A (p.Asp1278Asn) c.4246G>A (p.Asp1416Asn) c.3929-26G>A (n.3929-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763455G>A | CA7896213 | GRIN2A | c.4089C>T (p.Ser1363=) c.3302-27C>T (n.3302-27C>T) n.3366-27C>T c.3618C>T (p.Ser1206=) c.*1459C>T (n.*1459C>T) c.3678C>T (p.Ser1226=) n.3412-27C>T c.3362-27C>T (n.3362-27C>T) c.3773-27C>T (n.3773-27C>T) c.3930C>T (p.Ser1310=) c.3831C>T (p.Ser1277=) c.4245C>T (p.Ser1415=) c.3929-27C>T (n.3929-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.9763455G>C | CA493692721 | GRIN2A | c.4089C>G (p.Ser1363=) c.3302-27C>G (n.3302-27C>G) n.3366-27C>G c.3618C>G (p.Ser1206=) c.*1459C>G (n.*1459C>G) c.3678C>G (p.Ser1226=) n.3412-27C>G c.3362-27C>G (n.3362-27C>G) c.3773-27C>G (n.3773-27C>G) c.3930C>G (p.Ser1310=) c.3831C>G (p.Ser1277=) c.4245C>G (p.Ser1415=) c.3929-27C>G (n.3929-27C>G) | dbSNP |
16 | g.9763455G= | CA2206692724 | GRIN2A | c.4089C= (p.Ser1363=) c.3302-27C= (n.3302-27C=) n.3366-27C= c.3618C= (p.Ser1206=) c.*1459C= (n.*1459C=) c.3678C= (p.Ser1226=) n.3412-27C= c.3362-27C= (n.3362-27C=) c.3773-27C= (n.3773-27C=) c.3930C= (p.Ser1310=) c.3831C= (p.Ser1277=) c.4245C= (p.Ser1415=) c.3929-27C= (n.3929-27C=) | |
16 | g.9763455G>T | CA493692722 | GRIN2A | c.4089C>A (p.Ser1363=) c.3302-27C>A (n.3302-27C>A) n.3366-27C>A c.3618C>A (p.Ser1206=) c.*1459C>A (n.*1459C>A) c.3678C>A (p.Ser1226=) n.3412-27C>A c.3362-27C>A (n.3362-27C>A) c.3773-27C>A (n.3773-27C>A) c.3930C>A (p.Ser1310=) c.3831C>A (p.Ser1277=) c.4245C>A (p.Ser1415=) c.3929-27C>A (n.3929-27C>A) | dbSNP COSMIC |
16 | g.9763456G>A | CA394706126 | GRIN2A | c.4088C>T (p.Ser1363Phe) c.3302-28C>T (n.3302-28C>T) n.3366-28C>T c.3617C>T (p.Ser1206Phe) c.*1458C>T (n.*1458C>T) c.3677C>T (p.Ser1226Phe) n.3412-28C>T c.3362-28C>T (n.3362-28C>T) c.3773-28C>T (n.3773-28C>T) c.3929C>T (p.Ser1310Phe) c.3830C>T (p.Ser1277Phe) c.4244C>T (p.Ser1415Phe) c.3929-28C>T (n.3929-28C>T) | dbSNP gnomAD v4 |
16 | g.9763456G>C | CA394706127 | GRIN2A | c.4088C>G (p.Ser1363Cys) c.3302-28C>G (n.3302-28C>G) n.3366-28C>G c.3617C>G (p.Ser1206Cys) c.*1458C>G (n.*1458C>G) c.3677C>G (p.Ser1226Cys) n.3412-28C>G c.3362-28C>G (n.3362-28C>G) c.3773-28C>G (n.3773-28C>G) c.3929C>G (p.Ser1310Cys) c.3830C>G (p.Ser1277Cys) c.4244C>G (p.Ser1415Cys) c.3929-28C>G (n.3929-28C>G) | dbSNP |
16 | g.9763456G>T | CA394706128 | GRIN2A | c.4088C>A (p.Ser1363Tyr) c.3302-28C>A (n.3302-28C>A) n.3366-28C>A c.3617C>A (p.Ser1206Tyr) c.*1458C>A (n.*1458C>A) c.3677C>A (p.Ser1226Tyr) n.3412-28C>A c.3362-28C>A (n.3362-28C>A) c.3773-28C>A (n.3773-28C>A) c.3929C>A (p.Ser1310Tyr) c.3830C>A (p.Ser1277Tyr) c.4244C>A (p.Ser1415Tyr) c.3929-28C>A (n.3929-28C>A) | |
16 | g.9763457A>C | CA394706129 | GRIN2A | c.4087T>G (p.Ser1363Ala) c.3302-29T>G (n.3302-29T>G) n.3366-29T>G c.3616T>G (p.Ser1206Ala) c.*1457T>G (n.*1457T>G) c.3676T>G (p.Ser1226Ala) n.3412-29T>G c.3362-29T>G (n.3362-29T>G) c.3773-29T>G (n.3773-29T>G) c.3928T>G (p.Ser1310Ala) c.3829T>G (p.Ser1277Ala) c.4243T>G (p.Ser1415Ala) c.3929-29T>G (n.3929-29T>G) | |
16 | g.9763457A>G | CA394706131 | GRIN2A | c.4087T>C (p.Ser1363Pro) c.3302-29T>C (n.3302-29T>C) n.3366-29T>C c.3616T>C (p.Ser1206Pro) c.*1457T>C (n.*1457T>C) c.3676T>C (p.Ser1226Pro) n.3412-29T>C c.3362-29T>C (n.3362-29T>C) c.3773-29T>C (n.3773-29T>C) c.3928T>C (p.Ser1310Pro) c.3829T>C (p.Ser1277Pro) c.4243T>C (p.Ser1415Pro) c.3929-29T>C (n.3929-29T>C) | dbSNP |
16 | g.9763457A>T | CA394706130 | GRIN2A | c.4087T>A (p.Ser1363Thr) c.3302-29T>A (n.3302-29T>A) n.3366-29T>A c.3616T>A (p.Ser1206Thr) c.*1457T>A (n.*1457T>A) c.3676T>A (p.Ser1226Thr) n.3412-29T>A c.3362-29T>A (n.3362-29T>A) c.3773-29T>A (n.3773-29T>A) c.3928T>A (p.Ser1310Thr) c.3829T>A (p.Ser1277Thr) c.4243T>A (p.Ser1415Thr) c.3929-29T>A (n.3929-29T>A) | dbSNP |
16 | g.9763458G>A | CA7896214 | GRIN2A | c.4086C>T (p.Thr1362=) c.3302-30C>T (n.3302-30C>T) n.3366-30C>T c.3615C>T (p.Thr1205=) c.*1456C>T (n.*1456C>T) c.3675C>T (p.Thr1225=) n.3412-30C>T c.3362-30C>T (n.3362-30C>T) c.3773-30C>T (n.3773-30C>T) c.3927C>T (p.Thr1309=) c.3828C>T (p.Thr1276=) c.4242C>T (p.Thr1414=) c.3929-30C>T (n.3929-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763458G>C | CA493692723 | GRIN2A | c.4086C>G (p.Thr1362=) c.3302-30C>G (n.3302-30C>G) n.3366-30C>G c.3615C>G (p.Thr1205=) c.*1456C>G (n.*1456C>G) c.3675C>G (p.Thr1225=) n.3412-30C>G c.3362-30C>G (n.3362-30C>G) c.3773-30C>G (n.3773-30C>G) c.3927C>G (p.Thr1309=) c.3828C>G (p.Thr1276=) c.4242C>G (p.Thr1414=) c.3929-30C>G (n.3929-30C>G) | dbSNP |
16 | g.9763458G= | CA2206692725 | GRIN2A | c.4086C= (p.Thr1362=) c.3302-30C= (n.3302-30C=) n.3366-30C= c.3615C= (p.Thr1205=) c.*1456C= (n.*1456C=) c.3675C= (p.Thr1225=) n.3412-30C= c.3362-30C= (n.3362-30C=) c.3773-30C= (n.3773-30C=) c.3927C= (p.Thr1309=) c.3828C= (p.Thr1276=) c.4242C= (p.Thr1414=) c.3929-30C= (n.3929-30C=) | |
16 | g.9763458G>T | CA493692724 | GRIN2A | c.4086C>A (p.Thr1362=) c.3302-30C>A (n.3302-30C>A) n.3366-30C>A c.3615C>A (p.Thr1205=) c.*1456C>A (n.*1456C>A) c.3675C>A (p.Thr1225=) n.3412-30C>A c.3362-30C>A (n.3362-30C>A) c.3773-30C>A (n.3773-30C>A) c.3927C>A (p.Thr1309=) c.3828C>A (p.Thr1276=) c.4242C>A (p.Thr1414=) c.3929-30C>A (n.3929-30C>A) | |
16 | g.9763459G>A | CA394706132 | GRIN2A | c.4085C>T (p.Thr1362Ile) c.3302-31C>T (n.3302-31C>T) n.3366-31C>T c.3614C>T (p.Thr1205Ile) c.*1455C>T (n.*1455C>T) c.3674C>T (p.Thr1225Ile) n.3412-31C>T c.3362-31C>T (n.3362-31C>T) c.3773-31C>T (n.3773-31C>T) c.3926C>T (p.Thr1309Ile) c.3827C>T (p.Thr1276Ile) c.4241C>T (p.Thr1414Ile) c.3929-31C>T (n.3929-31C>T) | dbSNP gnomAD v4 |
16 | g.9763459G>C | CA394706133 | GRIN2A | c.4085C>G (p.Thr1362Ser) c.3302-31C>G (n.3302-31C>G) n.3366-31C>G c.3614C>G (p.Thr1205Ser) c.*1455C>G (n.*1455C>G) c.3674C>G (p.Thr1225Ser) n.3412-31C>G c.3362-31C>G (n.3362-31C>G) c.3773-31C>G (n.3773-31C>G) c.3926C>G (p.Thr1309Ser) c.3827C>G (p.Thr1276Ser) c.4241C>G (p.Thr1414Ser) c.3929-31C>G (n.3929-31C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763459G= | CA2206692726 | GRIN2A | c.4085C= (p.Thr1362=) c.3302-31C= (n.3302-31C=) n.3366-31C= c.3614C= (p.Thr1205=) c.*1455C= (n.*1455C=) c.3674C= (p.Thr1225=) n.3412-31C= c.3362-31C= (n.3362-31C=) c.3773-31C= (n.3773-31C=) c.3926C= (p.Thr1309=) c.3827C= (p.Thr1276=) c.4241C= (p.Thr1414=) c.3929-31C= (n.3929-31C=) | |
16 | g.9763459G>T | CA394706134 | GRIN2A | c.4085C>A (p.Thr1362Asn) c.3302-31C>A (n.3302-31C>A) n.3366-31C>A c.3614C>A (p.Thr1205Asn) c.*1455C>A (n.*1455C>A) c.3674C>A (p.Thr1225Asn) n.3412-31C>A c.3362-31C>A (n.3362-31C>A) c.3773-31C>A (n.3773-31C>A) c.3926C>A (p.Thr1309Asn) c.3827C>A (p.Thr1276Asn) c.4241C>A (p.Thr1414Asn) c.3929-31C>A (n.3929-31C>A) | ClinVar gnomAD v4 |
16 | g.9763460T>A | CA394706135 | GRIN2A | c.4084A>T (p.Thr1362Ser) c.3302-32A>T (n.3302-32A>T) n.3366-32A>T c.3613A>T (p.Thr1205Ser) c.*1454A>T (n.*1454A>T) c.3673A>T (p.Thr1225Ser) n.3412-32A>T c.3362-32A>T (n.3362-32A>T) c.3773-32A>T (n.3773-32A>T) c.3925A>T (p.Thr1309Ser) c.3826A>T (p.Thr1276Ser) c.4240A>T (p.Thr1414Ser) c.3929-32A>T (n.3929-32A>T) | dbSNP |
16 | g.9763460T>C | CA10583445 | GRIN2A | c.4084A>G (p.Thr1362Ala) c.3302-32A>G (n.3302-32A>G) n.3366-32A>G c.3613A>G (p.Thr1205Ala) c.*1454A>G (n.*1454A>G) c.3673A>G (p.Thr1225Ala) n.3412-32A>G c.3362-32A>G (n.3362-32A>G) c.3773-32A>G (n.3773-32A>G) c.3925A>G (p.Thr1309Ala) c.3826A>G (p.Thr1276Ala) c.4240A>G (p.Thr1414Ala) c.3929-32A>G (n.3929-32A>G) | ClinVar dbSNP |
16 | g.9763460T>G | CA277536188 | GRIN2A | c.4084A>C (p.Thr1362Pro) c.3302-32A>C (n.3302-32A>C) n.3366-32A>C c.3613A>C (p.Thr1205Pro) c.*1454A>C (n.*1454A>C) c.3673A>C (p.Thr1225Pro) n.3412-32A>C c.3362-32A>C (n.3362-32A>C) c.3773-32A>C (n.3773-32A>C) c.3925A>C (p.Thr1309Pro) c.3826A>C (p.Thr1276Pro) c.4240A>C (p.Thr1414Pro) c.3929-32A>C (n.3929-32A>C) | dbSNP |
16 | g.9763460T= | CA2206692727 | GRIN2A | c.4084A= (p.Thr1362=) c.3302-32A= (n.3302-32A=) n.3366-32A= c.3613A= (p.Thr1205=) c.*1454A= (n.*1454A=) c.3673A= (p.Thr1225=) n.3412-32A= c.3362-32A= (n.3362-32A=) c.3773-32A= (n.3773-32A=) c.3925A= (p.Thr1309=) c.3826A= (p.Thr1276=) c.4240A= (p.Thr1414=) c.3929-32A= (n.3929-32A=) | |
16 | g.9763461G>A | CA493692725 | GRIN2A | c.4083C>T (p.His1361=) c.3302-33C>T (n.3302-33C>T) n.3366-33C>T c.3612C>T (p.His1204=) c.*1453C>T (n.*1453C>T) c.3672C>T (p.His1224=) n.3412-33C>T c.3362-33C>T (n.3362-33C>T) c.3773-33C>T (n.3773-33C>T) c.3924C>T (p.His1308=) c.3825C>T (p.His1275=) c.4239C>T (p.His1413=) c.3929-33C>T (n.3929-33C>T) | dbSNP |
16 | g.9763461G>C | CA394706136 | GRIN2A | c.4083C>G (p.His1361Gln) c.3302-33C>G (n.3302-33C>G) n.3366-33C>G c.3612C>G (p.His1204Gln) c.*1453C>G (n.*1453C>G) c.3672C>G (p.His1224Gln) n.3412-33C>G c.3362-33C>G (n.3362-33C>G) c.3773-33C>G (n.3773-33C>G) c.3924C>G (p.His1308Gln) c.3825C>G (p.His1275Gln) c.4239C>G (p.His1413Gln) c.3929-33C>G (n.3929-33C>G) | dbSNP |
16 | g.9763461G>T | CA394706137 | GRIN2A | c.4083C>A (p.His1361Gln) c.3302-33C>A (n.3302-33C>A) n.3366-33C>A c.3612C>A (p.His1204Gln) c.*1453C>A (n.*1453C>A) c.3672C>A (p.His1224Gln) n.3412-33C>A c.3362-33C>A (n.3362-33C>A) c.3773-33C>A (n.3773-33C>A) c.3924C>A (p.His1308Gln) c.3825C>A (p.His1275Gln) c.4239C>A (p.His1413Gln) c.3929-33C>A (n.3929-33C>A) | |
16 | g.9763462T>A | CA394706138 | GRIN2A | c.4082A>T (p.His1361Leu) c.3302-34A>T (n.3302-34A>T) n.3366-34A>T c.3611A>T (p.His1204Leu) c.*1452A>T (n.*1452A>T) c.3671A>T (p.His1224Leu) n.3412-34A>T c.3362-34A>T (n.3362-34A>T) c.3773-34A>T (n.3773-34A>T) c.3923A>T (p.His1308Leu) c.3824A>T (p.His1275Leu) c.4238A>T (p.His1413Leu) c.3929-34A>T (n.3929-34A>T) | |
16 | g.9763462T>C | CA394706139 | GRIN2A | c.4082A>G (p.His1361Arg) c.3302-34A>G (n.3302-34A>G) n.3366-34A>G c.3611A>G (p.His1204Arg) c.*1452A>G (n.*1452A>G) c.3671A>G (p.His1224Arg) n.3412-34A>G c.3362-34A>G (n.3362-34A>G) c.3773-34A>G (n.3773-34A>G) c.3923A>G (p.His1308Arg) c.3824A>G (p.His1275Arg) c.4238A>G (p.His1413Arg) c.3929-34A>G (n.3929-34A>G) | |
16 | g.9763462T>G | CA394706140 | GRIN2A | c.4082A>C (p.His1361Pro) c.3302-34A>C (n.3302-34A>C) n.3366-34A>C c.3611A>C (p.His1204Pro) c.*1452A>C (n.*1452A>C) c.3671A>C (p.His1224Pro) n.3412-34A>C c.3362-34A>C (n.3362-34A>C) c.3773-34A>C (n.3773-34A>C) c.3923A>C (p.His1308Pro) c.3824A>C (p.His1275Pro) c.4238A>C (p.His1413Pro) c.3929-34A>C (n.3929-34A>C) | |
16 | g.9763463G>A | CA394706141 | GRIN2A | c.4081C>T (p.His1361Tyr) c.3302-35C>T (n.3302-35C>T) n.3366-35C>T c.3610C>T (p.His1204Tyr) c.*1451C>T (n.*1451C>T) c.3670C>T (p.His1224Tyr) n.3412-35C>T c.3362-35C>T (n.3362-35C>T) c.3773-35C>T (n.3773-35C>T) c.3922C>T (p.His1308Tyr) c.3823C>T (p.His1275Tyr) c.4237C>T (p.His1413Tyr) c.3929-35C>T (n.3929-35C>T) | dbSNP |
16 | g.9763463G>C | CA207978 | GRIN2A | c.4081C>G (p.His1361Asp) c.3302-35C>G (n.3302-35C>G) n.3366-35C>G c.3610C>G (p.His1204Asp) c.*1451C>G (n.*1451C>G) c.3670C>G (p.His1224Asp) n.3412-35C>G c.3362-35C>G (n.3362-35C>G) c.3773-35C>G (n.3773-35C>G) c.3922C>G (p.His1308Asp) c.3823C>G (p.His1275Asp) c.4237C>G (p.His1413Asp) c.3929-35C>G (n.3929-35C>G) | ClinVar dbSNP |
16 | g.9763463G= | CA2206692728 | GRIN2A | c.4081C= (p.His1361=) c.3302-35C= (n.3302-35C=) n.3366-35C= c.3610C= (p.His1204=) c.*1451C= (n.*1451C=) c.3670C= (p.His1224=) n.3412-35C= c.3362-35C= (n.3362-35C=) c.3773-35C= (n.3773-35C=) c.3922C= (p.His1308=) c.3823C= (p.His1275=) c.4237C= (p.His1413=) c.3929-35C= (n.3929-35C=) | |
16 | g.9763463G>T | CA394706142 | GRIN2A | c.4081C>A (p.His1361Asn) c.3302-35C>A (n.3302-35C>A) n.3366-35C>A c.3610C>A (p.His1204Asn) c.*1451C>A (n.*1451C>A) c.3670C>A (p.His1224Asn) n.3412-35C>A c.3362-35C>A (n.3362-35C>A) c.3773-35C>A (n.3773-35C>A) c.3922C>A (p.His1308Asn) c.3823C>A (p.His1275Asn) c.4237C>A (p.His1413Asn) c.3929-35C>A (n.3929-35C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763464G>A | CA493692726 | GRIN2A | c.4080C>T (p.Asp1360=) c.3302-36C>T (n.3302-36C>T) n.3366-36C>T c.3609C>T (p.Asp1203=) c.*1450C>T (n.*1450C>T) c.3669C>T (p.Asp1223=) n.3412-36C>T c.3362-36C>T (n.3362-36C>T) c.3773-36C>T (n.3773-36C>T) c.3921C>T (p.Asp1307=) c.3822C>T (p.Asp1274=) c.4236C>T (p.Asp1412=) c.3929-36C>T (n.3929-36C>T) | dbSNP |
16 | g.9763464G>C | CA394706143 | GRIN2A | c.4080C>G (p.Asp1360Glu) c.3302-36C>G (n.3302-36C>G) n.3366-36C>G c.3609C>G (p.Asp1203Glu) c.*1450C>G (n.*1450C>G) c.3669C>G (p.Asp1223Glu) n.3412-36C>G c.3362-36C>G (n.3362-36C>G) c.3773-36C>G (n.3773-36C>G) c.3921C>G (p.Asp1307Glu) c.3822C>G (p.Asp1274Glu) c.4236C>G (p.Asp1412Glu) c.3929-36C>G (n.3929-36C>G) | dbSNP |
16 | g.9763464G>T | CA394706144 | GRIN2A | c.4080C>A (p.Asp1360Glu) c.3302-36C>A (n.3302-36C>A) n.3366-36C>A c.3609C>A (p.Asp1203Glu) c.*1450C>A (n.*1450C>A) c.3669C>A (p.Asp1223Glu) n.3412-36C>A c.3362-36C>A (n.3362-36C>A) c.3773-36C>A (n.3773-36C>A) c.3921C>A (p.Asp1307Glu) c.3822C>A (p.Asp1274Glu) c.4236C>A (p.Asp1412Glu) c.3929-36C>A (n.3929-36C>A) | |
16 | g.9763465T>A | CA394706145 | GRIN2A | c.4079A>T (p.Asp1360Val) c.3302-37A>T (n.3302-37A>T) n.3366-37A>T c.3608A>T (p.Asp1203Val) c.*1449A>T (n.*1449A>T) c.3668A>T (p.Asp1223Val) n.3412-37A>T c.3362-37A>T (n.3362-37A>T) c.3773-37A>T (n.3773-37A>T) c.3920A>T (p.Asp1307Val) c.3821A>T (p.Asp1274Val) c.4235A>T (p.Asp1412Val) c.3929-37A>T (n.3929-37A>T) | dbSNP |
16 | g.9763465T>C | CA394706146 | GRIN2A | c.4079A>G (p.Asp1360Gly) c.3302-37A>G (n.3302-37A>G) n.3366-37A>G c.3608A>G (p.Asp1203Gly) c.*1449A>G (n.*1449A>G) c.3668A>G (p.Asp1223Gly) n.3412-37A>G c.3362-37A>G (n.3362-37A>G) c.3773-37A>G (n.3773-37A>G) c.3920A>G (p.Asp1307Gly) c.3821A>G (p.Asp1274Gly) c.4235A>G (p.Asp1412Gly) c.3929-37A>G (n.3929-37A>G) | |
16 | g.9763465T>G | CA394706147 | GRIN2A | c.4079A>C (p.Asp1360Ala) c.3302-37A>C (n.3302-37A>C) n.3366-37A>C c.3608A>C (p.Asp1203Ala) c.*1449A>C (n.*1449A>C) c.3668A>C (p.Asp1223Ala) n.3412-37A>C c.3362-37A>C (n.3362-37A>C) c.3773-37A>C (n.3773-37A>C) c.3920A>C (p.Asp1307Ala) c.3821A>C (p.Asp1274Ala) c.4235A>C (p.Asp1412Ala) c.3929-37A>C (n.3929-37A>C) | dbSNP |
16 | g.9763466C>A | CA394706148 | GRIN2A | c.4078G>T (p.Asp1360Tyr) c.3302-38G>T (n.3302-38G>T) n.3366-38G>T c.3607G>T (p.Asp1203Tyr) c.*1448G>T (n.*1448G>T) c.3667G>T (p.Asp1223Tyr) n.3412-38G>T c.3362-38G>T (n.3362-38G>T) c.3773-38G>T (n.3773-38G>T) c.3919G>T (p.Asp1307Tyr) c.3820G>T (p.Asp1274Tyr) c.4234G>T (p.Asp1412Tyr) c.3929-38G>T (n.3929-38G>T) | |
16 | g.9763466C>G | CA394706149 | GRIN2A | c.4078G>C (p.Asp1360His) c.3302-38G>C (n.3302-38G>C) n.3366-38G>C c.3607G>C (p.Asp1203His) c.*1448G>C (n.*1448G>C) c.3667G>C (p.Asp1223His) n.3412-38G>C c.3362-38G>C (n.3362-38G>C) c.3773-38G>C (n.3773-38G>C) c.3919G>C (p.Asp1307His) c.3820G>C (p.Asp1274His) c.4234G>C (p.Asp1412His) c.3929-38G>C (n.3929-38G>C) | dbSNP gnomAD v4 |
16 | g.9763466C>T | CA394706150 | GRIN2A | c.4078G>A (p.Asp1360Asn) c.3302-38G>A (n.3302-38G>A) n.3366-38G>A c.3607G>A (p.Asp1203Asn) c.*1448G>A (n.*1448G>A) c.3667G>A (p.Asp1223Asn) n.3412-38G>A c.3362-38G>A (n.3362-38G>A) c.3773-38G>A (n.3773-38G>A) c.3919G>A (p.Asp1307Asn) c.3820G>A (p.Asp1274Asn) c.4234G>A (p.Asp1412Asn) c.3929-38G>A (n.3929-38G>A) | dbSNP |
16 | g.9763467T>A | CA493692730 | GRIN2A | c.4077A>T (p.Pro1359=) c.3302-39A>T (n.3302-39A>T) n.3366-39A>T c.3606A>T (p.Pro1202=) c.*1447A>T (n.*1447A>T) c.3666A>T (p.Pro1222=) n.3412-39A>T c.3362-39A>T (n.3362-39A>T) c.3773-39A>T (n.3773-39A>T) c.3918A>T (p.Pro1306=) c.3819A>T (p.Pro1273=) c.4233A>T (p.Pro1411=) c.3929-39A>T (n.3929-39A>T) | |
16 | g.9763467T>C | CA493692731 | GRIN2A | c.4077A>G (p.Pro1359=) c.3302-39A>G (n.3302-39A>G) n.3366-39A>G c.3606A>G (p.Pro1202=) c.*1447A>G (n.*1447A>G) c.3666A>G (p.Pro1222=) n.3412-39A>G c.3362-39A>G (n.3362-39A>G) c.3773-39A>G (n.3773-39A>G) c.3918A>G (p.Pro1306=) c.3819A>G (p.Pro1273=) c.4233A>G (p.Pro1411=) c.3929-39A>G (n.3929-39A>G) | |
16 | g.9763467T>G | CA493692729 | GRIN2A | c.4077A>C (p.Pro1359=) c.3302-39A>C (n.3302-39A>C) n.3366-39A>C c.3606A>C (p.Pro1202=) c.*1447A>C (n.*1447A>C) c.3666A>C (p.Pro1222=) n.3412-39A>C c.3362-39A>C (n.3362-39A>C) c.3773-39A>C (n.3773-39A>C) c.3918A>C (p.Pro1306=) c.3819A>C (p.Pro1273=) c.4233A>C (p.Pro1411=) c.3929-39A>C (n.3929-39A>C) | |
16 | g.9763468G>A | CA394706151 | GRIN2A | c.4076C>T (p.Pro1359Leu) c.3302-40C>T (n.3302-40C>T) n.3366-40C>T c.3605C>T (p.Pro1202Leu) c.*1446C>T (n.*1446C>T) c.3665C>T (p.Pro1222Leu) n.3412-40C>T c.3362-40C>T (n.3362-40C>T) c.3773-40C>T (n.3773-40C>T) c.3917C>T (p.Pro1306Leu) c.3818C>T (p.Pro1273Leu) c.4232C>T (p.Pro1411Leu) c.3929-40C>T (n.3929-40C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.9763468G>C | CA394706152 | GRIN2A | c.4076C>G (p.Pro1359Arg) c.3302-40C>G (n.3302-40C>G) n.3366-40C>G c.3605C>G (p.Pro1202Arg) c.*1446C>G (n.*1446C>G) c.3665C>G (p.Pro1222Arg) n.3412-40C>G c.3362-40C>G (n.3362-40C>G) c.3773-40C>G (n.3773-40C>G) c.3917C>G (p.Pro1306Arg) c.3818C>G (p.Pro1273Arg) c.4232C>G (p.Pro1411Arg) c.3929-40C>G (n.3929-40C>G) | dbSNP |
16 | g.9763468G= | CA2206692729 | GRIN2A | c.4076C= (p.Pro1359=) c.3302-40C= (n.3302-40C=) n.3366-40C= c.3605C= (p.Pro1202=) c.*1446C= (n.*1446C=) c.3665C= (p.Pro1222=) n.3412-40C= c.3362-40C= (n.3362-40C=) c.3773-40C= (n.3773-40C=) c.3917C= (p.Pro1306=) c.3818C= (p.Pro1273=) c.4232C= (p.Pro1411=) c.3929-40C= (n.3929-40C=) | |
16 | g.9763468G>T | CA394706153 | GRIN2A | c.4076C>A (p.Pro1359Gln) c.3302-40C>A (n.3302-40C>A) n.3366-40C>A c.3605C>A (p.Pro1202Gln) c.*1446C>A (n.*1446C>A) c.3665C>A (p.Pro1222Gln) n.3412-40C>A c.3362-40C>A (n.3362-40C>A) c.3773-40C>A (n.3773-40C>A) c.3917C>A (p.Pro1306Gln) c.3818C>A (p.Pro1273Gln) c.4232C>A (p.Pro1411Gln) c.3929-40C>A (n.3929-40C>A) | |
16 | g.9763469del | CA2731686089 | GRIN2A | c.4076del (p.Pro1359GlnfsTer?) c.3302-40del (n.3302-40del) n.3366-40del c.3605del (p.Pro1202GlnfsTer?) c.*1446del (n.*1446del) c.3665del (p.Pro1222GlnfsTer?) n.3412-40del c.3362-40del (n.3362-40del) c.3773-40del (n.3773-40del) c.3917del (p.Pro1306GlnfsTer?) c.3818del (p.Pro1273GlnfsTer?) c.4232del (p.Pro1411GlnfsTer?) c.3929-40del (n.3929-40del) | dbSNP |
16 | g.9763469G>A | CA394706154 | GRIN2A | c.4075C>T (p.Pro1359Ser) c.3302-41C>T (n.3302-41C>T) n.3366-41C>T c.3604C>T (p.Pro1202Ser) c.*1445C>T (n.*1445C>T) c.3664C>T (p.Pro1222Ser) n.3412-41C>T c.3362-41C>T (n.3362-41C>T) c.3773-41C>T (n.3773-41C>T) c.3916C>T (p.Pro1306Ser) c.3817C>T (p.Pro1273Ser) c.4231C>T (p.Pro1411Ser) c.3929-41C>T (n.3929-41C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763469G>C | CA394706155 | GRIN2A | c.4075C>G (p.Pro1359Ala) c.3302-41C>G (n.3302-41C>G) n.3366-41C>G c.3604C>G (p.Pro1202Ala) c.*1445C>G (n.*1445C>G) c.3664C>G (p.Pro1222Ala) n.3412-41C>G c.3362-41C>G (n.3362-41C>G) c.3773-41C>G (n.3773-41C>G) c.3916C>G (p.Pro1306Ala) c.3817C>G (p.Pro1273Ala) c.4231C>G (p.Pro1411Ala) c.3929-41C>G (n.3929-41C>G) | dbSNP |
16 | g.9763469G= | CA2206692730 | GRIN2A | c.4075C= (p.Pro1359=) c.3302-41C= (n.3302-41C=) n.3366-41C= c.3604C= (p.Pro1202=) c.*1445C= (n.*1445C=) c.3664C= (p.Pro1222=) n.3412-41C= c.3362-41C= (n.3362-41C=) c.3773-41C= (n.3773-41C=) c.3916C= (p.Pro1306=) c.3817C= (p.Pro1273=) c.4231C= (p.Pro1411=) c.3929-41C= (n.3929-41C=) | |
16 | g.9763469G>T | CA394706156 | GRIN2A | c.4075C>A (p.Pro1359Thr) c.3302-41C>A (n.3302-41C>A) n.3366-41C>A c.3604C>A (p.Pro1202Thr) c.*1445C>A (n.*1445C>A) c.3664C>A (p.Pro1222Thr) n.3412-41C>A c.3362-41C>A (n.3362-41C>A) c.3773-41C>A (n.3773-41C>A) c.3916C>A (p.Pro1306Thr) c.3817C>A (p.Pro1273Thr) c.4231C>A (p.Pro1411Thr) c.3929-41C>A (n.3929-41C>A) | |
16 | g.9763470C>A | CA394706157 | GRIN2A | c.4074G>T (p.Leu1358Phe) c.3302-42G>T (n.3302-42G>T) n.3366-42G>T c.3603G>T (p.Leu1201Phe) c.*1444G>T (n.*1444G>T) c.3663G>T (p.Leu1221Phe) n.3412-42G>T c.3362-42G>T (n.3362-42G>T) c.3773-42G>T (n.3773-42G>T) c.3915G>T (p.Leu1305Phe) c.3816G>T (p.Leu1272Phe) c.4230G>T (p.Leu1410Phe) c.3929-42G>T (n.3929-42G>T) | dbSNP |
16 | g.9763470C>G | CA394706158 | GRIN2A | c.4074G>C (p.Leu1358Phe) c.3302-42G>C (n.3302-42G>C) n.3366-42G>C c.3603G>C (p.Leu1201Phe) c.*1444G>C (n.*1444G>C) c.3663G>C (p.Leu1221Phe) n.3412-42G>C c.3362-42G>C (n.3362-42G>C) c.3773-42G>C (n.3773-42G>C) c.3915G>C (p.Leu1305Phe) c.3816G>C (p.Leu1272Phe) c.4230G>C (p.Leu1410Phe) c.3929-42G>C (n.3929-42G>C) | dbSNP |
16 | g.9763470C>T | CA493692733 | GRIN2A | c.4074G>A (p.Leu1358=) c.3302-42G>A (n.3302-42G>A) n.3366-42G>A c.3603G>A (p.Leu1201=) c.*1444G>A (n.*1444G>A) c.3663G>A (p.Leu1221=) n.3412-42G>A c.3362-42G>A (n.3362-42G>A) c.3773-42G>A (n.3773-42G>A) c.3915G>A (p.Leu1305=) c.3816G>A (p.Leu1272=) c.4230G>A (p.Leu1410=) c.3929-42G>A (n.3929-42G>A) | dbSNP |
16 | g.9763471A= | CA2206692731 | GRIN2A | c.4073T= (p.Leu1358=) c.3302-43T= (n.3302-43T=) n.3366-43T= c.3602T= (p.Leu1201=) c.*1443T= (n.*1443T=) c.3662T= (p.Leu1221=) n.3412-43T= c.3362-43T= (n.3362-43T=) c.3773-43T= (n.3773-43T=) c.3914T= (p.Leu1305=) c.3815T= (p.Leu1272=) c.4229T= (p.Leu1410=) c.3929-43T= (n.3929-43T=) | |
16 | g.9763471A>C | CA394706159 | GRIN2A | c.4073T>G (p.Leu1358Trp) c.3302-43T>G (n.3302-43T>G) n.3366-43T>G c.3602T>G (p.Leu1201Trp) c.*1443T>G (n.*1443T>G) c.3662T>G (p.Leu1221Trp) n.3412-43T>G c.3362-43T>G (n.3362-43T>G) c.3773-43T>G (n.3773-43T>G) c.3914T>G (p.Leu1305Trp) c.3815T>G (p.Leu1272Trp) c.4229T>G (p.Leu1410Trp) c.3929-43T>G (n.3929-43T>G) | |
16 | g.9763471A>G | CA394706160 | GRIN2A | c.4073T>C (p.Leu1358Ser) c.3302-43T>C (n.3302-43T>C) n.3366-43T>C c.3602T>C (p.Leu1201Ser) c.*1443T>C (n.*1443T>C) c.3662T>C (p.Leu1221Ser) n.3412-43T>C c.3362-43T>C (n.3362-43T>C) c.3773-43T>C (n.3773-43T>C) c.3914T>C (p.Leu1305Ser) c.3815T>C (p.Leu1272Ser) c.4229T>C (p.Leu1410Ser) c.3929-43T>C (n.3929-43T>C) | |
16 | g.9763471A>T | CA394706161 | GRIN2A | c.4073T>A (p.Leu1358Ter) c.3302-43T>A (n.3302-43T>A) n.3366-43T>A c.3602T>A (p.Leu1201Ter) c.*1443T>A (n.*1443T>A) c.3662T>A (p.Leu1221Ter) n.3412-43T>A c.3362-43T>A (n.3362-43T>A) c.3773-43T>A (n.3773-43T>A) c.3914T>A (p.Leu1305Ter) c.3815T>A (p.Leu1272Ter) c.4229T>A (p.Leu1410Ter) c.3929-43T>A (n.3929-43T>A) | dbSNP |
16 | g.9763472A>C | CA394706162 | GRIN2A | c.4072T>G (p.Leu1358Val) c.3302-44T>G (n.3302-44T>G) n.3366-44T>G c.3601T>G (p.Leu1201Val) c.*1442T>G (n.*1442T>G) c.3661T>G (p.Leu1221Val) n.3412-44T>G c.3362-44T>G (n.3362-44T>G) c.3773-44T>G (n.3773-44T>G) c.3913T>G (p.Leu1305Val) c.3814T>G (p.Leu1272Val) c.4228T>G (p.Leu1410Val) c.3929-44T>G (n.3929-44T>G) | |
16 | g.9763472A>G | CA493692734 | GRIN2A | c.4072T>C (p.Leu1358=) c.3302-44T>C (n.3302-44T>C) n.3366-44T>C c.3601T>C (p.Leu1201=) c.*1442T>C (n.*1442T>C) c.3661T>C (p.Leu1221=) n.3412-44T>C c.3362-44T>C (n.3362-44T>C) c.3773-44T>C (n.3773-44T>C) c.3913T>C (p.Leu1305=) c.3814T>C (p.Leu1272=) c.4228T>C (p.Leu1410=) c.3929-44T>C (n.3929-44T>C) | |
16 | g.9763472A>T | CA394706163 | GRIN2A | c.4072T>A (p.Leu1358Met) c.3302-44T>A (n.3302-44T>A) n.3366-44T>A c.3601T>A (p.Leu1201Met) c.*1442T>A (n.*1442T>A) c.3661T>A (p.Leu1221Met) n.3412-44T>A c.3362-44T>A (n.3362-44T>A) c.3773-44T>A (n.3773-44T>A) c.3913T>A (p.Leu1305Met) c.3814T>A (p.Leu1272Met) c.4228T>A (p.Leu1410Met) c.3929-44T>A (n.3929-44T>A) | dbSNP |
16 | g.9763473G>A | CA493692735 | GRIN2A | c.4071C>T (p.Leu1357=) c.3302-45C>T (n.3302-45C>T) n.3366-45C>T c.3600C>T (p.Leu1200=) c.*1441C>T (n.*1441C>T) c.3660C>T (p.Leu1220=) n.3412-45C>T c.3362-45C>T (n.3362-45C>T) c.3773-45C>T (n.3773-45C>T) c.3912C>T (p.Leu1304=) c.3813C>T (p.Leu1271=) c.4227C>T (p.Leu1409=) c.3929-45C>T (n.3929-45C>T) | dbSNP COSMIC |
16 | g.9763473G>C | CA493692737 | GRIN2A | c.4071C>G (p.Leu1357=) c.3302-45C>G (n.3302-45C>G) n.3366-45C>G c.3600C>G (p.Leu1200=) c.*1441C>G (n.*1441C>G) c.3660C>G (p.Leu1220=) n.3412-45C>G c.3362-45C>G (n.3362-45C>G) c.3773-45C>G (n.3773-45C>G) c.3912C>G (p.Leu1304=) c.3813C>G (p.Leu1271=) c.4227C>G (p.Leu1409=) c.3929-45C>G (n.3929-45C>G) | dbSNP gnomAD v4 |
16 | g.9763473G>T | CA493692736 | GRIN2A | c.4071C>A (p.Leu1357=) c.3302-45C>A (n.3302-45C>A) n.3366-45C>A c.3600C>A (p.Leu1200=) c.*1441C>A (n.*1441C>A) c.3660C>A (p.Leu1220=) n.3412-45C>A c.3362-45C>A (n.3362-45C>A) c.3773-45C>A (n.3773-45C>A) c.3912C>A (p.Leu1304=) c.3813C>A (p.Leu1271=) c.4227C>A (p.Leu1409=) c.3929-45C>A (n.3929-45C>A) | COSMIC |
16 | g.9763474A>C | CA394706164 | GRIN2A | c.4070T>G (p.Leu1357Arg) c.3302-46T>G (n.3302-46T>G) n.3366-46T>G c.3599T>G (p.Leu1200Arg) c.*1440T>G (n.*1440T>G) c.3659T>G (p.Leu1220Arg) n.3412-46T>G c.3362-46T>G (n.3362-46T>G) c.3773-46T>G (n.3773-46T>G) c.3911T>G (p.Leu1304Arg) c.3812T>G (p.Leu1271Arg) c.4226T>G (p.Leu1409Arg) c.3929-46T>G (n.3929-46T>G) | |
16 | g.9763474A>G | CA394706165 | GRIN2A | c.4070T>C (p.Leu1357Pro) c.3302-46T>C (n.3302-46T>C) n.3366-46T>C c.3599T>C (p.Leu1200Pro) c.*1440T>C (n.*1440T>C) c.3659T>C (p.Leu1220Pro) n.3412-46T>C c.3362-46T>C (n.3362-46T>C) c.3773-46T>C (n.3773-46T>C) c.3911T>C (p.Leu1304Pro) c.3812T>C (p.Leu1271Pro) c.4226T>C (p.Leu1409Pro) c.3929-46T>C (n.3929-46T>C) | dbSNP |
16 | g.9763474A>T | CA394706166 | GRIN2A | c.4070T>A (p.Leu1357His) c.3302-46T>A (n.3302-46T>A) n.3366-46T>A c.3599T>A (p.Leu1200His) c.*1440T>A (n.*1440T>A) c.3659T>A (p.Leu1220His) n.3412-46T>A c.3362-46T>A (n.3362-46T>A) c.3773-46T>A (n.3773-46T>A) c.3911T>A (p.Leu1304His) c.3812T>A (p.Leu1271His) c.4226T>A (p.Leu1409His) c.3929-46T>A (n.3929-46T>A) | dbSNP |
16 | g.9763475G>A | CA394706167 | GRIN2A | c.4069C>T (p.Leu1357Phe) c.3302-47C>T (n.3302-47C>T) n.3366-47C>T c.3598C>T (p.Leu1200Phe) c.*1439C>T (n.*1439C>T) c.3658C>T (p.Leu1220Phe) n.3412-47C>T c.3362-47C>T (n.3362-47C>T) c.3773-47C>T (n.3773-47C>T) c.3910C>T (p.Leu1304Phe) c.3811C>T (p.Leu1271Phe) c.4225C>T (p.Leu1409Phe) c.3929-47C>T (n.3929-47C>T) | dbSNP COSMIC |
16 | g.9763475G>C | CA7896215 | GRIN2A | c.4069C>G (p.Leu1357Val) c.3302-47C>G (n.3302-47C>G) n.3366-47C>G c.3598C>G (p.Leu1200Val) c.*1439C>G (n.*1439C>G) c.3658C>G (p.Leu1220Val) n.3412-47C>G c.3362-47C>G (n.3362-47C>G) c.3773-47C>G (n.3773-47C>G) c.3910C>G (p.Leu1304Val) c.3811C>G (p.Leu1271Val) c.4225C>G (p.Leu1409Val) c.3929-47C>G (n.3929-47C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763475G= | CA2206692732 | GRIN2A | c.4069C= (p.Leu1357=) c.3302-47C= (n.3302-47C=) n.3366-47C= c.3598C= (p.Leu1200=) c.*1439C= (n.*1439C=) c.3658C= (p.Leu1220=) n.3412-47C= c.3362-47C= (n.3362-47C=) c.3773-47C= (n.3773-47C=) c.3910C= (p.Leu1304=) c.3811C= (p.Leu1271=) c.4225C= (p.Leu1409=) c.3929-47C= (n.3929-47C=) | |
16 | g.9763475G>T | CA394706168 | GRIN2A | c.4069C>A (p.Leu1357Ile) c.3302-47C>A (n.3302-47C>A) n.3366-47C>A c.3598C>A (p.Leu1200Ile) c.*1439C>A (n.*1439C>A) c.3658C>A (p.Leu1220Ile) n.3412-47C>A c.3362-47C>A (n.3362-47C>A) c.3773-47C>A (n.3773-47C>A) c.3910C>A (p.Leu1304Ile) c.3811C>A (p.Leu1271Ile) c.4225C>A (p.Leu1409Ile) c.3929-47C>A (n.3929-47C>A) | |
16 | g.9763476A= | CA2206692733 | GRIN2A | c.4068T= (p.Ser1356=) c.3302-48T= (n.3302-48T=) n.3366-48T= c.3597T= (p.Ser1199=) c.*1438T= (n.*1438T=) c.3657T= (p.Ser1219=) n.3412-48T= c.3362-48T= (n.3362-48T=) c.3773-48T= (n.3773-48T=) c.3909T= (p.Ser1303=) c.3810T= (p.Ser1270=) c.4224T= (p.Ser1408=) c.3929-48T= (n.3929-48T=) | |
16 | g.9763476A>C | CA493692739 | GRIN2A | c.4068T>G (p.Ser1356=) c.3302-48T>G (n.3302-48T>G) n.3366-48T>G c.3597T>G (p.Ser1199=) c.*1438T>G (n.*1438T>G) c.3657T>G (p.Ser1219=) n.3412-48T>G c.3362-48T>G (n.3362-48T>G) c.3773-48T>G (n.3773-48T>G) c.3909T>G (p.Ser1303=) c.3810T>G (p.Ser1270=) c.4224T>G (p.Ser1408=) c.3929-48T>G (n.3929-48T>G) | |
16 | g.9763476A>G | CA493692740 | GRIN2A | c.4068T>C (p.Ser1356=) c.3302-48T>C (n.3302-48T>C) n.3366-48T>C c.3597T>C (p.Ser1199=) c.*1438T>C (n.*1438T>C) c.3657T>C (p.Ser1219=) n.3412-48T>C c.3362-48T>C (n.3362-48T>C) c.3773-48T>C (n.3773-48T>C) c.3909T>C (p.Ser1303=) c.3810T>C (p.Ser1270=) c.4224T>C (p.Ser1408=) c.3929-48T>C (n.3929-48T>C) | dbSNP gnomAD v4 |
16 | g.9763476A>T | CA493692741 | GRIN2A | c.4068T>A (p.Ser1356=) c.3302-48T>A (n.3302-48T>A) n.3366-48T>A c.3597T>A (p.Ser1199=) c.*1438T>A (n.*1438T>A) c.3657T>A (p.Ser1219=) n.3412-48T>A c.3362-48T>A (n.3362-48T>A) c.3773-48T>A (n.3773-48T>A) c.3909T>A (p.Ser1303=) c.3810T>A (p.Ser1270=) c.4224T>A (p.Ser1408=) c.3929-48T>A (n.3929-48T>A) | dbSNP |
16 | g.9763477G>A | CA394706169 | GRIN2A | c.4067C>T (p.Ser1356Phe) c.3302-49C>T (n.3302-49C>T) n.3366-49C>T c.3596C>T (p.Ser1199Phe) c.*1437C>T (n.*1437C>T) c.3656C>T (p.Ser1219Phe) n.3412-49C>T c.3362-49C>T (n.3362-49C>T) c.3773-49C>T (n.3773-49C>T) c.3908C>T (p.Ser1303Phe) c.3809C>T (p.Ser1270Phe) c.4223C>T (p.Ser1408Phe) c.3929-49C>T (n.3929-49C>T) | |
16 | g.9763477G>C | CA394706171 | GRIN2A | c.4067C>G (p.Ser1356Cys) c.3302-49C>G (n.3302-49C>G) n.3366-49C>G c.3596C>G (p.Ser1199Cys) c.*1437C>G (n.*1437C>G) c.3656C>G (p.Ser1219Cys) n.3412-49C>G c.3362-49C>G (n.3362-49C>G) c.3773-49C>G (n.3773-49C>G) c.3908C>G (p.Ser1303Cys) c.3809C>G (p.Ser1270Cys) c.4223C>G (p.Ser1408Cys) c.3929-49C>G (n.3929-49C>G) | ClinVar dbSNP gnomAD v4 |
16 | g.9763477G>T | CA394706170 | GRIN2A | c.4067C>A (p.Ser1356Tyr) c.3302-49C>A (n.3302-49C>A) n.3366-49C>A c.3596C>A (p.Ser1199Tyr) c.*1437C>A (n.*1437C>A) c.3656C>A (p.Ser1219Tyr) n.3412-49C>A c.3362-49C>A (n.3362-49C>A) c.3773-49C>A (n.3773-49C>A) c.3908C>A (p.Ser1303Tyr) c.3809C>A (p.Ser1270Tyr) c.4223C>A (p.Ser1408Tyr) c.3929-49C>A (n.3929-49C>A) | dbSNP COSMIC |
16 | g.9763478A>C | CA394706172 | GRIN2A | c.4066T>G (p.Ser1356Ala) c.3302-50T>G (n.3302-50T>G) n.3366-50T>G c.3595T>G (p.Ser1199Ala) c.*1436T>G (n.*1436T>G) c.3655T>G (p.Ser1219Ala) n.3412-50T>G c.3362-50T>G (n.3362-50T>G) c.3773-50T>G (n.3773-50T>G) c.3907T>G (p.Ser1303Ala) c.3808T>G (p.Ser1270Ala) c.4222T>G (p.Ser1408Ala) c.3929-50T>G (n.3929-50T>G) | dbSNP |
16 | g.9763478A>G | CA394706174 | GRIN2A | c.4066T>C (p.Ser1356Pro) c.3302-50T>C (n.3302-50T>C) n.3366-50T>C c.3595T>C (p.Ser1199Pro) c.*1436T>C (n.*1436T>C) c.3655T>C (p.Ser1219Pro) n.3412-50T>C c.3362-50T>C (n.3362-50T>C) c.3773-50T>C (n.3773-50T>C) c.3907T>C (p.Ser1303Pro) c.3808T>C (p.Ser1270Pro) c.4222T>C (p.Ser1408Pro) c.3929-50T>C (n.3929-50T>C) | |
16 | g.9763478A>T | CA394706173 | GRIN2A | c.4066T>A (p.Ser1356Thr) c.3302-50T>A (n.3302-50T>A) n.3366-50T>A c.3595T>A (p.Ser1199Thr) c.*1436T>A (n.*1436T>A) c.3655T>A (p.Ser1219Thr) n.3412-50T>A c.3362-50T>A (n.3362-50T>A) c.3773-50T>A (n.3773-50T>A) c.3907T>A (p.Ser1303Thr) c.3808T>A (p.Ser1270Thr) c.4222T>A (p.Ser1408Thr) c.3929-50T>A (n.3929-50T>A) | dbSNP |
16 | g.9763479C>A | CA394706175 | GRIN2A | c.4065G>T (p.Lys1355Asn) c.3302-51G>T (n.3302-51G>T) n.3366-51G>T c.3594G>T (p.Lys1198Asn) c.*1435G>T (n.*1435G>T) c.3654G>T (p.Lys1218Asn) n.3412-51G>T c.3362-51G>T (n.3362-51G>T) c.3773-51G>T (n.3773-51G>T) c.3906G>T (p.Lys1302Asn) c.3807G>T (p.Lys1269Asn) c.4221G>T (p.Lys1407Asn) c.3929-51G>T (n.3929-51G>T) | dbSNP |
16 | g.9763479C= | CA2206692734 | GRIN2A | c.4065G= (p.Lys1355=) c.3302-51G= (n.3302-51G=) n.3366-51G= c.3594G= (p.Lys1198=) c.*1435G= (n.*1435G=) c.3654G= (p.Lys1218=) n.3412-51G= c.3362-51G= (n.3362-51G=) c.3773-51G= (n.3773-51G=) c.3906G= (p.Lys1302=) c.3807G= (p.Lys1269=) c.4221G= (p.Lys1407=) c.3929-51G= (n.3929-51G=) | |
16 | g.9763479C>G | CA314996 | GRIN2A | c.4065G>C (p.Lys1355Asn) c.3302-51G>C (n.3302-51G>C) n.3366-51G>C c.3594G>C (p.Lys1198Asn) c.*1435G>C (n.*1435G>C) c.3654G>C (p.Lys1218Asn) n.3412-51G>C c.3362-51G>C (n.3362-51G>C) c.3773-51G>C (n.3773-51G>C) c.3906G>C (p.Lys1302Asn) c.3807G>C (p.Lys1269Asn) c.4221G>C (p.Lys1407Asn) c.3929-51G>C (n.3929-51G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.9763479C>T | CA493692742 | GRIN2A | c.4065G>A (p.Lys1355=) c.3302-51G>A (n.3302-51G>A) n.3366-51G>A c.3594G>A (p.Lys1198=) c.*1435G>A (n.*1435G>A) c.3654G>A (p.Lys1218=) n.3412-51G>A c.3362-51G>A (n.3362-51G>A) c.3773-51G>A (n.3773-51G>A) c.3906G>A (p.Lys1302=) c.3807G>A (p.Lys1269=) c.4221G>A (p.Lys1407=) c.3929-51G>A (n.3929-51G>A) | dbSNP COSMIC |
16 | g.9763485_9763493del | CA2731686183 | GRIN2A | c.4057_4065del (p.Arg1353_Lys1355del) c.3302-59_3302-51del (n.3302-59_3302-51del) n.3366-59_3366-51del c.3586_3594del (p.Arg1196_Lys1198del) c.*1427_*1435del (n.*1427_*1435del) c.3646_3654del (p.Arg1216_Lys1218del) n.3412-59_3412-51del c.3362-59_3362-51del (n.3362-59_3362-51del) c.3773-59_3773-51del (n.3773-59_3773-51del) c.3898_3906del (p.Arg1300_Lys1302del) c.3799_3807del (p.Arg1267_Lys1269del) c.4213_4221del (p.Arg1405_Lys1407del) c.3929-59_3929-51del (n.3929-59_3929-51del) | dbSNP |
16 | g.9763480T>A | CA394706176 | GRIN2A | c.4064A>T (p.Lys1355Met) c.3302-52A>T (n.3302-52A>T) n.3366-52A>T c.3593A>T (p.Lys1198Met) c.*1434A>T (n.*1434A>T) c.3653A>T (p.Lys1218Met) n.3412-52A>T c.3362-52A>T (n.3362-52A>T) c.3773-52A>T (n.3773-52A>T) c.3905A>T (p.Lys1302Met) c.3806A>T (p.Lys1269Met) c.4220A>T (p.Lys1407Met) c.3929-52A>T (n.3929-52A>T) | dbSNP |
16 | g.9763480T>C | CA394706177 | GRIN2A | c.4064A>G (p.Lys1355Arg) c.3302-52A>G (n.3302-52A>G) n.3366-52A>G c.3593A>G (p.Lys1198Arg) c.*1434A>G (n.*1434A>G) c.3653A>G (p.Lys1218Arg) n.3412-52A>G c.3362-52A>G (n.3362-52A>G) c.3773-52A>G (n.3773-52A>G) c.3905A>G (p.Lys1302Arg) c.3806A>G (p.Lys1269Arg) c.4220A>G (p.Lys1407Arg) c.3929-52A>G (n.3929-52A>G) | dbSNP |
16 | g.9763480T>G | CA394706178 | GRIN2A | c.4064A>C (p.Lys1355Thr) c.3302-52A>C (n.3302-52A>C) n.3366-52A>C c.3593A>C (p.Lys1198Thr) c.*1434A>C (n.*1434A>C) c.3653A>C (p.Lys1218Thr) n.3412-52A>C c.3362-52A>C (n.3362-52A>C) c.3773-52A>C (n.3773-52A>C) c.3905A>C (p.Lys1302Thr) c.3806A>C (p.Lys1269Thr) c.4220A>C (p.Lys1407Thr) c.3929-52A>C (n.3929-52A>C) | |
16 | g.9763481T>A | CA394706179 | GRIN2A | c.4063A>T (p.Lys1355Ter) c.3302-53A>T (n.3302-53A>T) n.3366-53A>T c.3592A>T (p.Lys1198Ter) c.*1433A>T (n.*1433A>T) c.3652A>T (p.Lys1218Ter) n.3412-53A>T c.3362-53A>T (n.3362-53A>T) c.3773-53A>T (n.3773-53A>T) c.3904A>T (p.Lys1302Ter) c.3805A>T (p.Lys1269Ter) c.4219A>T (p.Lys1407Ter) c.3929-53A>T (n.3929-53A>T) | dbSNP |
16 | g.9763481T>C | CA394706180 | GRIN2A | c.4063A>G (p.Lys1355Glu) c.3302-53A>G (n.3302-53A>G) n.3366-53A>G c.3592A>G (p.Lys1198Glu) c.*1433A>G (n.*1433A>G) c.3652A>G (p.Lys1218Glu) n.3412-53A>G c.3362-53A>G (n.3362-53A>G) c.3773-53A>G (n.3773-53A>G) c.3904A>G (p.Lys1302Glu) c.3805A>G (p.Lys1269Glu) c.4219A>G (p.Lys1407Glu) c.3929-53A>G (n.3929-53A>G) | |
16 | g.9763481T>G | CA394706181 | GRIN2A | c.4063A>C (p.Lys1355Gln) c.3302-53A>C (n.3302-53A>C) n.3366-53A>C c.3592A>C (p.Lys1198Gln) c.*1433A>C (n.*1433A>C) c.3652A>C (p.Lys1218Gln) n.3412-53A>C c.3362-53A>C (n.3362-53A>C) c.3773-53A>C (n.3773-53A>C) c.3904A>C (p.Lys1302Gln) c.3805A>C (p.Lys1269Gln) c.4219A>C (p.Lys1407Gln) c.3929-53A>C (n.3929-53A>C) | |
16 | g.9763481T= | CA2206692735 | GRIN2A | c.4063A= (p.Lys1355=) c.3302-53A= (n.3302-53A=) n.3366-53A= c.3592A= (p.Lys1198=) c.*1433A= (n.*1433A=) c.3652A= (p.Lys1218=) n.3412-53A= c.3362-53A= (n.3362-53A=) c.3773-53A= (n.3773-53A=) c.3904A= (p.Lys1302=) c.3805A= (p.Lys1269=) c.4219A= (p.Lys1407=) c.3929-53A= (n.3929-53A=) | |
16 | g.9763482G>A | CA493692743 | GRIN2A | c.4062C>T (p.Ser1354=) c.3302-54C>T (n.3302-54C>T) n.3366-54C>T c.3591C>T (p.Ser1197=) c.*1432C>T (n.*1432C>T) c.3651C>T (p.Ser1217=) n.3412-54C>T c.3362-54C>T (n.3362-54C>T) c.3773-54C>T (n.3773-54C>T) c.3903C>T (p.Ser1301=) c.3804C>T (p.Ser1268=) c.4218C>T (p.Ser1406=) c.3929-54C>T (n.3929-54C>T) | dbSNP |
16 | g.9763482G>C | CA394706182 | GRIN2A | c.4062C>G (p.Ser1354Arg) c.3302-54C>G (n.3302-54C>G) n.3366-54C>G c.3591C>G (p.Ser1197Arg) c.*1432C>G (n.*1432C>G) c.3651C>G (p.Ser1217Arg) n.3412-54C>G c.3362-54C>G (n.3362-54C>G) c.3773-54C>G (n.3773-54C>G) c.3903C>G (p.Ser1301Arg) c.3804C>G (p.Ser1268Arg) c.4218C>G (p.Ser1406Arg) c.3929-54C>G (n.3929-54C>G) | dbSNP |
16 | g.9763482G>T | CA394706183 | GRIN2A | c.4062C>A (p.Ser1354Arg) c.3302-54C>A (n.3302-54C>A) n.3366-54C>A c.3591C>A (p.Ser1197Arg) c.*1432C>A (n.*1432C>A) c.3651C>A (p.Ser1217Arg) n.3412-54C>A c.3362-54C>A (n.3362-54C>A) c.3773-54C>A (n.3773-54C>A) c.3903C>A (p.Ser1301Arg) c.3804C>A (p.Ser1268Arg) c.4218C>A (p.Ser1406Arg) c.3929-54C>A (n.3929-54C>A) | gnomAD v4 |
16 | g.9763483C>A | CA394706184 | GRIN2A | c.4061G>T (p.Ser1354Ile) c.3302-55G>T (n.3302-55G>T) n.3366-55G>T c.3590G>T (p.Ser1197Ile) c.*1431G>T (n.*1431G>T) c.3650G>T (p.Ser1217Ile) n.3412-55G>T c.3362-55G>T (n.3362-55G>T) c.3773-55G>T (n.3773-55G>T) c.3902G>T (p.Ser1301Ile) c.3803G>T (p.Ser1268Ile) c.4217G>T (p.Ser1406Ile) c.3929-55G>T (n.3929-55G>T) | dbSNP |
16 | g.9763483C>G | CA394706185 | GRIN2A | c.4061G>C (p.Ser1354Thr) c.3302-55G>C (n.3302-55G>C) n.3366-55G>C c.3590G>C (p.Ser1197Thr) c.*1431G>C (n.*1431G>C) c.3650G>C (p.Ser1217Thr) n.3412-55G>C c.3362-55G>C (n.3362-55G>C) c.3773-55G>C (n.3773-55G>C) c.3902G>C (p.Ser1301Thr) c.3803G>C (p.Ser1268Thr) c.4217G>C (p.Ser1406Thr) c.3929-55G>C (n.3929-55G>C) | dbSNP |
16 | g.9763483C>T | CA394706186 | GRIN2A | c.4061G>A (p.Ser1354Asn) c.3302-55G>A (n.3302-55G>A) n.3366-55G>A c.3590G>A (p.Ser1197Asn) c.*1431G>A (n.*1431G>A) c.3650G>A (p.Ser1217Asn) n.3412-55G>A c.3362-55G>A (n.3362-55G>A) c.3773-55G>A (n.3773-55G>A) c.3902G>A (p.Ser1301Asn) c.3803G>A (p.Ser1268Asn) c.4217G>A (p.Ser1406Asn) c.3929-55G>A (n.3929-55G>A) | dbSNP |
16 | g.9763484T>A | CA394706189 | GRIN2A | c.4060A>T (p.Ser1354Cys) c.3302-56A>T (n.3302-56A>T) n.3366-56A>T c.3589A>T (p.Ser1197Cys) c.*1430A>T (n.*1430A>T) c.3649A>T (p.Ser1217Cys) n.3412-56A>T c.3362-56A>T (n.3362-56A>T) c.3773-56A>T (n.3773-56A>T) c.3901A>T (p.Ser1301Cys) c.3802A>T (p.Ser1268Cys) c.4216A>T (p.Ser1406Cys) c.3929-56A>T (n.3929-56A>T) | |
16 | g.9763484T>C | CA394706187 | GRIN2A | c.4060A>G (p.Ser1354Gly) c.3302-56A>G (n.3302-56A>G) n.3366-56A>G c.3589A>G (p.Ser1197Gly) c.*1430A>G (n.*1430A>G) c.3649A>G (p.Ser1217Gly) n.3412-56A>G c.3362-56A>G (n.3362-56A>G) c.3773-56A>G (n.3773-56A>G) c.3901A>G (p.Ser1301Gly) c.3802A>G (p.Ser1268Gly) c.4216A>G (p.Ser1406Gly) c.3929-56A>G (n.3929-56A>G) | |
16 | g.9763484T>G | CA394706188 | GRIN2A | c.4060A>C (p.Ser1354Arg) c.3302-56A>C (n.3302-56A>C) n.3366-56A>C c.3589A>C (p.Ser1197Arg) c.*1430A>C (n.*1430A>C) c.3649A>C (p.Ser1217Arg) n.3412-56A>C c.3362-56A>C (n.3362-56A>C) c.3773-56A>C (n.3773-56A>C) c.3901A>C (p.Ser1301Arg) c.3802A>C (p.Ser1268Arg) c.4216A>C (p.Ser1406Arg) c.3929-56A>C (n.3929-56A>C) | |
16 | g.9763485C>A | CA394706190 | GRIN2A | c.4059G>T (p.Arg1353Ser) c.3302-57G>T (n.3302-57G>T) n.3366-57G>T c.3588G>T (p.Arg1196Ser) c.*1429G>T (n.*1429G>T) c.3648G>T (p.Arg1216Ser) n.3412-57G>T c.3362-57G>T (n.3362-57G>T) c.3773-57G>T (n.3773-57G>T) c.3900G>T (p.Arg1300Ser) c.3801G>T (p.Arg1267Ser) c.4215G>T (p.Arg1405Ser) c.3929-57G>T (n.3929-57G>T) | |
16 | g.9763485C= | CA2206692736 | GRIN2A | c.4059G= (p.Arg1353=) c.3302-57G= (n.3302-57G=) n.3366-57G= c.3588G= (p.Arg1196=) c.*1429G= (n.*1429G=) c.3648G= (p.Arg1216=) n.3412-57G= c.3362-57G= (n.3362-57G=) c.3773-57G= (n.3773-57G=) c.3900G= (p.Arg1300=) c.3801G= (p.Arg1267=) c.4215G= (p.Arg1405=) c.3929-57G= (n.3929-57G=) | |
16 | g.9763485C>G | CA394706191 | GRIN2A | c.4059G>C (p.Arg1353Ser) c.3302-57G>C (n.3302-57G>C) n.3366-57G>C c.3588G>C (p.Arg1196Ser) c.*1429G>C (n.*1429G>C) c.3648G>C (p.Arg1216Ser) n.3412-57G>C c.3362-57G>C (n.3362-57G>C) c.3773-57G>C (n.3773-57G>C) c.3900G>C (p.Arg1300Ser) c.3801G>C (p.Arg1267Ser) c.4215G>C (p.Arg1405Ser) c.3929-57G>C (n.3929-57G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763485C>T | CA493692746 | GRIN2A | c.4059G>A (p.Arg1353=) c.3302-57G>A (n.3302-57G>A) n.3366-57G>A c.3588G>A (p.Arg1196=) c.*1429G>A (n.*1429G>A) c.3648G>A (p.Arg1216=) n.3412-57G>A c.3362-57G>A (n.3362-57G>A) c.3773-57G>A (n.3773-57G>A) c.3900G>A (p.Arg1300=) c.3801G>A (p.Arg1267=) c.4215G>A (p.Arg1405=) c.3929-57G>A (n.3929-57G>A) | |
16 | g.9763486C>A | CA394706192 | GRIN2A | c.4058G>T (p.Arg1353Met) c.3302-58G>T (n.3302-58G>T) n.3366-58G>T c.3587G>T (p.Arg1196Met) c.*1428G>T (n.*1428G>T) c.3647G>T (p.Arg1216Met) n.3412-58G>T c.3362-58G>T (n.3362-58G>T) c.3773-58G>T (n.3773-58G>T) c.3899G>T (p.Arg1300Met) c.3800G>T (p.Arg1267Met) c.4214G>T (p.Arg1405Met) c.3929-58G>T (n.3929-58G>T) | |
16 | g.9763486C>G | CA394706193 | GRIN2A | c.4058G>C (p.Arg1353Thr) c.3302-58G>C (n.3302-58G>C) n.3366-58G>C c.3587G>C (p.Arg1196Thr) c.*1428G>C (n.*1428G>C) c.3647G>C (p.Arg1216Thr) n.3412-58G>C c.3362-58G>C (n.3362-58G>C) c.3773-58G>C (n.3773-58G>C) c.3899G>C (p.Arg1300Thr) c.3800G>C (p.Arg1267Thr) c.4214G>C (p.Arg1405Thr) c.3929-58G>C (n.3929-58G>C) | dbSNP |
16 | g.9763486C>T | CA394706194 | GRIN2A | c.4058G>A (p.Arg1353Lys) c.3302-58G>A (n.3302-58G>A) n.3366-58G>A c.3587G>A (p.Arg1196Lys) c.*1428G>A (n.*1428G>A) c.3647G>A (p.Arg1216Lys) n.3412-58G>A c.3362-58G>A (n.3362-58G>A) c.3773-58G>A (n.3773-58G>A) c.3899G>A (p.Arg1300Lys) c.3800G>A (p.Arg1267Lys) c.4214G>A (p.Arg1405Lys) c.3929-58G>A (n.3929-58G>A) | dbSNP COSMIC |
16 | g.9763487T>A | CA394706195 | GRIN2A | c.4057A>T (p.Arg1353Trp) c.3302-59A>T (n.3302-59A>T) n.3366-59A>T c.3586A>T (p.Arg1196Trp) c.*1427A>T (n.*1427A>T) c.3646A>T (p.Arg1216Trp) n.3412-59A>T c.3362-59A>T (n.3362-59A>T) c.3773-59A>T (n.3773-59A>T) c.3898A>T (p.Arg1300Trp) c.3799A>T (p.Arg1267Trp) c.4213A>T (p.Arg1405Trp) c.3929-59A>T (n.3929-59A>T) | |
16 | g.9763487T>C | CA394706196 | GRIN2A | c.4057A>G (p.Arg1353Gly) c.3302-59A>G (n.3302-59A>G) n.3366-59A>G c.3586A>G (p.Arg1196Gly) c.*1427A>G (n.*1427A>G) c.3646A>G (p.Arg1216Gly) n.3412-59A>G c.3362-59A>G (n.3362-59A>G) c.3773-59A>G (n.3773-59A>G) c.3898A>G (p.Arg1300Gly) c.3799A>G (p.Arg1267Gly) c.4213A>G (p.Arg1405Gly) c.3929-59A>G (n.3929-59A>G) | dbSNP gnomAD v4 |
16 | g.9763487T>G | CA493692747 | GRIN2A | c.4057A>C (p.Arg1353=) c.3302-59A>C (n.3302-59A>C) n.3366-59A>C c.3586A>C (p.Arg1196=) c.*1427A>C (n.*1427A>C) c.3646A>C (p.Arg1216=) n.3412-59A>C c.3362-59A>C (n.3362-59A>C) c.3773-59A>C (n.3773-59A>C) c.3898A>C (p.Arg1300=) c.3799A>C (p.Arg1267=) c.4213A>C (p.Arg1405=) c.3929-59A>C (n.3929-59A>C) | ClinVar dbSNP gnomAD v4 |
16 | g.9763487T= | CA2206692737 | GRIN2A | c.4057A= (p.Arg1353=) c.3302-59A= (n.3302-59A=) n.3366-59A= c.3586A= (p.Arg1196=) c.*1427A= (n.*1427A=) c.3646A= (p.Arg1216=) n.3412-59A= c.3362-59A= (n.3362-59A=) c.3773-59A= (n.3773-59A=) c.3898A= (p.Arg1300=) c.3799A= (p.Arg1267=) c.4213A= (p.Arg1405=) c.3929-59A= (n.3929-59A=) | |
16 | g.9763488C>A | CA394706197 | GRIN2A | c.4056G>T (p.Lys1352Asn) c.3302-60G>T (n.3302-60G>T) n.3366-60G>T c.3585G>T (p.Lys1195Asn) c.*1426G>T (n.*1426G>T) c.3645G>T (p.Lys1215Asn) n.3412-60G>T c.3362-60G>T (n.3362-60G>T) c.3773-60G>T (n.3773-60G>T) c.3897G>T (p.Lys1299Asn) c.3798G>T (p.Lys1266Asn) c.4212G>T (p.Lys1404Asn) c.3929-60G>T (n.3929-60G>T) | dbSNP |
16 | g.9763488C= | CA2206692738 | GRIN2A | c.4056G= (p.Lys1352=) c.3302-60G= (n.3302-60G=) n.3366-60G= c.3585G= (p.Lys1195=) c.*1426G= (n.*1426G=) c.3645G= (p.Lys1215=) n.3412-60G= c.3362-60G= (n.3362-60G=) c.3773-60G= (n.3773-60G=) c.3897G= (p.Lys1299=) c.3798G= (p.Lys1266=) c.4212G= (p.Lys1404=) c.3929-60G= (n.3929-60G=) | |
16 | g.9763488C>G | CA7896216 | GRIN2A | c.4056G>C (p.Lys1352Asn) c.3302-60G>C (n.3302-60G>C) n.3366-60G>C c.3585G>C (p.Lys1195Asn) c.*1426G>C (n.*1426G>C) c.3645G>C (p.Lys1215Asn) n.3412-60G>C c.3362-60G>C (n.3362-60G>C) c.3773-60G>C (n.3773-60G>C) c.3897G>C (p.Lys1299Asn) c.3798G>C (p.Lys1266Asn) c.4212G>C (p.Lys1404Asn) c.3929-60G>C (n.3929-60G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763488C>T | CA493692750 | GRIN2A | c.4056G>A (p.Lys1352=) c.3302-60G>A (n.3302-60G>A) n.3366-60G>A c.3585G>A (p.Lys1195=) c.*1426G>A (n.*1426G>A) c.3645G>A (p.Lys1215=) n.3412-60G>A c.3362-60G>A (n.3362-60G>A) c.3773-60G>A (n.3773-60G>A) c.3897G>A (p.Lys1299=) c.3798G>A (p.Lys1266=) c.4212G>A (p.Lys1404=) c.3929-60G>A (n.3929-60G>A) | dbSNP gnomAD v4 |
16 | g.9763489T>A | CA394706198 | GRIN2A | c.4055A>T (p.Lys1352Met) c.3302-61A>T (n.3302-61A>T) n.3366-61A>T c.3584A>T (p.Lys1195Met) c.*1425A>T (n.*1425A>T) c.3644A>T (p.Lys1215Met) n.3412-61A>T c.3362-61A>T (n.3362-61A>T) c.3773-61A>T (n.3773-61A>T) c.3896A>T (p.Lys1299Met) c.3797A>T (p.Lys1266Met) c.4211A>T (p.Lys1404Met) c.3929-61A>T (n.3929-61A>T) | dbSNP |
16 | g.9763489T>C | CA394706199 | GRIN2A | c.4055A>G (p.Lys1352Arg) c.3302-61A>G (n.3302-61A>G) n.3366-61A>G c.3584A>G (p.Lys1195Arg) c.*1425A>G (n.*1425A>G) c.3644A>G (p.Lys1215Arg) n.3412-61A>G c.3362-61A>G (n.3362-61A>G) c.3773-61A>G (n.3773-61A>G) c.3896A>G (p.Lys1299Arg) c.3797A>G (p.Lys1266Arg) c.4211A>G (p.Lys1404Arg) c.3929-61A>G (n.3929-61A>G) | dbSNP |
16 | g.9763489T>G | CA394706200 | GRIN2A | c.4055A>C (p.Lys1352Thr) c.3302-61A>C (n.3302-61A>C) n.3366-61A>C c.3584A>C (p.Lys1195Thr) c.*1425A>C (n.*1425A>C) c.3644A>C (p.Lys1215Thr) n.3412-61A>C c.3362-61A>C (n.3362-61A>C) c.3773-61A>C (n.3773-61A>C) c.3896A>C (p.Lys1299Thr) c.3797A>C (p.Lys1266Thr) c.4211A>C (p.Lys1404Thr) c.3929-61A>C (n.3929-61A>C) | |
16 | g.9763490T>A | CA394706201 | GRIN2A | c.4054A>T (p.Lys1352Ter) c.3302-62A>T (n.3302-62A>T) n.3366-62A>T c.3583A>T (p.Lys1195Ter) c.*1424A>T (n.*1424A>T) c.3643A>T (p.Lys1215Ter) n.3412-62A>T c.3362-62A>T (n.3362-62A>T) c.3773-62A>T (n.3773-62A>T) c.3895A>T (p.Lys1299Ter) c.3796A>T (p.Lys1266Ter) c.4210A>T (p.Lys1404Ter) c.3929-62A>T (n.3929-62A>T) | dbSNP |
16 | g.9763490T>C | CA394706203 | GRIN2A | c.4054A>G (p.Lys1352Glu) c.3302-62A>G (n.3302-62A>G) n.3366-62A>G c.3583A>G (p.Lys1195Glu) c.*1424A>G (n.*1424A>G) c.3643A>G (p.Lys1215Glu) n.3412-62A>G c.3362-62A>G (n.3362-62A>G) c.3773-62A>G (n.3773-62A>G) c.3895A>G (p.Lys1299Glu) c.3796A>G (p.Lys1266Glu) c.4210A>G (p.Lys1404Glu) c.3929-62A>G (n.3929-62A>G) | dbSNP |
16 | g.9763490T>G | CA394706202 | GRIN2A | c.4054A>C (p.Lys1352Gln) c.3302-62A>C (n.3302-62A>C) n.3366-62A>C c.3583A>C (p.Lys1195Gln) c.*1424A>C (n.*1424A>C) c.3643A>C (p.Lys1215Gln) n.3412-62A>C c.3362-62A>C (n.3362-62A>C) c.3773-62A>C (n.3773-62A>C) c.3895A>C (p.Lys1299Gln) c.3796A>C (p.Lys1266Gln) c.4210A>C (p.Lys1404Gln) c.3929-62A>C (n.3929-62A>C) | |
16 | g.9763490T= | CA2206692739 | GRIN2A | c.4054A= (p.Lys1352=) c.3302-62A= (n.3302-62A=) n.3366-62A= c.3583A= (p.Lys1195=) c.*1424A= (n.*1424A=) c.3643A= (p.Lys1215=) n.3412-62A= c.3362-62A= (n.3362-62A=) c.3773-62A= (n.3773-62A=) c.3895A= (p.Lys1299=) c.3796A= (p.Lys1266=) c.4210A= (p.Lys1404=) c.3929-62A= (n.3929-62A=) | |
16 | g.9763491G>A | CA493692752 | GRIN2A | c.4053C>T (p.Ser1351=) c.3302-63C>T (n.3302-63C>T) n.3366-63C>T c.3582C>T (p.Ser1194=) c.*1423C>T (n.*1423C>T) c.3642C>T (p.Ser1214=) n.3412-63C>T c.3362-63C>T (n.3362-63C>T) c.3773-63C>T (n.3773-63C>T) c.3894C>T (p.Ser1298=) c.3795C>T (p.Ser1265=) c.4209C>T (p.Ser1403=) c.3929-63C>T (n.3929-63C>T) | dbSNP |
16 | g.9763491G>C | CA394706204 | GRIN2A | c.4053C>G (p.Ser1351Arg) c.3302-63C>G (n.3302-63C>G) n.3366-63C>G c.3582C>G (p.Ser1194Arg) c.*1423C>G (n.*1423C>G) c.3642C>G (p.Ser1214Arg) n.3412-63C>G c.3362-63C>G (n.3362-63C>G) c.3773-63C>G (n.3773-63C>G) c.3894C>G (p.Ser1298Arg) c.3795C>G (p.Ser1265Arg) c.4209C>G (p.Ser1403Arg) c.3929-63C>G (n.3929-63C>G) | dbSNP gnomAD v4 |
16 | g.9763491G>T | CA394706205 | GRIN2A | c.4053C>A (p.Ser1351Arg) c.3302-63C>A (n.3302-63C>A) n.3366-63C>A c.3582C>A (p.Ser1194Arg) c.*1423C>A (n.*1423C>A) c.3642C>A (p.Ser1214Arg) n.3412-63C>A c.3362-63C>A (n.3362-63C>A) c.3773-63C>A (n.3773-63C>A) c.3894C>A (p.Ser1298Arg) c.3795C>A (p.Ser1265Arg) c.4209C>A (p.Ser1403Arg) c.3929-63C>A (n.3929-63C>A) | ClinVar |
16 | g.9763492C>A | CA394706206 | GRIN2A | c.4052G>T (p.Ser1351Ile) c.3302-64G>T (n.3302-64G>T) n.3366-64G>T c.3581G>T (p.Ser1194Ile) c.*1422G>T (n.*1422G>T) c.3641G>T (p.Ser1214Ile) n.3412-64G>T c.3362-64G>T (n.3362-64G>T) c.3773-64G>T (n.3773-64G>T) c.3893G>T (p.Ser1298Ile) c.3794G>T (p.Ser1265Ile) c.4208G>T (p.Ser1403Ile) c.3929-64G>T (n.3929-64G>T) | |
16 | g.9763492C>G | CA394706207 | GRIN2A | c.4052G>C (p.Ser1351Thr) c.3302-64G>C (n.3302-64G>C) n.3366-64G>C c.3581G>C (p.Ser1194Thr) c.*1422G>C (n.*1422G>C) c.3641G>C (p.Ser1214Thr) n.3412-64G>C c.3362-64G>C (n.3362-64G>C) c.3773-64G>C (n.3773-64G>C) c.3893G>C (p.Ser1298Thr) c.3794G>C (p.Ser1265Thr) c.4208G>C (p.Ser1403Thr) c.3929-64G>C (n.3929-64G>C) | dbSNP |
16 | g.9763492C>T | CA394706208 | GRIN2A | c.4052G>A (p.Ser1351Asn) c.3302-64G>A (n.3302-64G>A) n.3366-64G>A c.3581G>A (p.Ser1194Asn) c.*1422G>A (n.*1422G>A) c.3641G>A (p.Ser1214Asn) n.3412-64G>A c.3362-64G>A (n.3362-64G>A) c.3773-64G>A (n.3773-64G>A) c.3893G>A (p.Ser1298Asn) c.3794G>A (p.Ser1265Asn) c.4208G>A (p.Ser1403Asn) c.3929-64G>A (n.3929-64G>A) | ClinVar dbSNP |
16 | g.9763493T>A | CA394706209 | GRIN2A | c.4051A>T (p.Ser1351Cys) c.3302-65A>T (n.3302-65A>T) n.3366-65A>T c.3580A>T (p.Ser1194Cys) c.*1421A>T (n.*1421A>T) c.3640A>T (p.Ser1214Cys) n.3412-65A>T c.3362-65A>T (n.3362-65A>T) c.3773-65A>T (n.3773-65A>T) c.3892A>T (p.Ser1298Cys) c.3793A>T (p.Ser1265Cys) c.4207A>T (p.Ser1403Cys) c.3929-65A>T (n.3929-65A>T) | dbSNP |
16 | g.9763493T>C | CA394706210 | GRIN2A | c.4051A>G (p.Ser1351Gly) c.3302-65A>G (n.3302-65A>G) n.3366-65A>G c.3580A>G (p.Ser1194Gly) c.*1421A>G (n.*1421A>G) c.3640A>G (p.Ser1214Gly) n.3412-65A>G c.3362-65A>G (n.3362-65A>G) c.3773-65A>G (n.3773-65A>G) c.3892A>G (p.Ser1298Gly) c.3793A>G (p.Ser1265Gly) c.4207A>G (p.Ser1403Gly) c.3929-65A>G (n.3929-65A>G) | dbSNP gnomAD v4 |
16 | g.9763493T>G | CA394706211 | GRIN2A | c.4051A>C (p.Ser1351Arg) c.3302-65A>C (n.3302-65A>C) n.3366-65A>C c.3580A>C (p.Ser1194Arg) c.*1421A>C (n.*1421A>C) c.3640A>C (p.Ser1214Arg) n.3412-65A>C c.3362-65A>C (n.3362-65A>C) c.3773-65A>C (n.3773-65A>C) c.3892A>C (p.Ser1298Arg) c.3793A>C (p.Ser1265Arg) c.4207A>C (p.Ser1403Arg) c.3929-65A>C (n.3929-65A>C) | |
16 | g.9763493T= | CA2206692740 | GRIN2A | c.4051A= (p.Ser1351=) c.3302-65A= (n.3302-65A=) n.3366-65A= c.3580A= (p.Ser1194=) c.*1421A= (n.*1421A=) c.3640A= (p.Ser1214=) n.3412-65A= c.3362-65A= (n.3362-65A=) c.3773-65A= (n.3773-65A=) c.3892A= (p.Ser1298=) c.3793A= (p.Ser1265=) c.4207A= (p.Ser1403=) c.3929-65A= (n.3929-65A=) | |
16 | g.9763494G>A | CA277536225 | GRIN2A | c.4050C>T (p.Asp1350=) c.3302-66C>T (n.3302-66C>T) n.3366-66C>T c.3579C>T (p.Asp1193=) c.*1420C>T (n.*1420C>T) c.3639C>T (p.Asp1213=) n.3412-66C>T c.3362-66C>T (n.3362-66C>T) c.3773-66C>T (n.3773-66C>T) c.3891C>T (p.Asp1297=) c.3792C>T (p.Asp1264=) c.4206C>T (p.Asp1402=) c.3929-66C>T (n.3929-66C>T) | ClinVar dbSNP |
16 | g.9763494G>C | CA394706212 | GRIN2A | c.4050C>G (p.Asp1350Glu) c.3302-66C>G (n.3302-66C>G) n.3366-66C>G c.3579C>G (p.Asp1193Glu) c.*1420C>G (n.*1420C>G) c.3639C>G (p.Asp1213Glu) n.3412-66C>G c.3362-66C>G (n.3362-66C>G) c.3773-66C>G (n.3773-66C>G) c.3891C>G (p.Asp1297Glu) c.3792C>G (p.Asp1264Glu) c.4206C>G (p.Asp1402Glu) c.3929-66C>G (n.3929-66C>G) | dbSNP |
16 | g.9763494G= | CA2206692741 | GRIN2A | c.4050C= (p.Asp1350=) c.3302-66C= (n.3302-66C=) n.3366-66C= c.3579C= (p.Asp1193=) c.*1420C= (n.*1420C=) c.3639C= (p.Asp1213=) n.3412-66C= c.3362-66C= (n.3362-66C=) c.3773-66C= (n.3773-66C=) c.3891C= (p.Asp1297=) c.3792C= (p.Asp1264=) c.4206C= (p.Asp1402=) c.3929-66C= (n.3929-66C=) | |
16 | g.9763494G>T | CA394706213 | GRIN2A | c.4050C>A (p.Asp1350Glu) c.3302-66C>A (n.3302-66C>A) n.3366-66C>A c.3579C>A (p.Asp1193Glu) c.*1420C>A (n.*1420C>A) c.3639C>A (p.Asp1213Glu) n.3412-66C>A c.3362-66C>A (n.3362-66C>A) c.3773-66C>A (n.3773-66C>A) c.3891C>A (p.Asp1297Glu) c.3792C>A (p.Asp1264Glu) c.4206C>A (p.Asp1402Glu) c.3929-66C>A (n.3929-66C>A) | |
16 | g.9763495T>A | CA394706216 | GRIN2A | c.4049A>T (p.Asp1350Val) c.3302-67A>T (n.3302-67A>T) n.3366-67A>T c.3578A>T (p.Asp1193Val) c.*1419A>T (n.*1419A>T) c.3638A>T (p.Asp1213Val) n.3412-67A>T c.3362-67A>T (n.3362-67A>T) c.3773-67A>T (n.3773-67A>T) c.3890A>T (p.Asp1297Val) c.3791A>T (p.Asp1264Val) c.4205A>T (p.Asp1402Val) c.3929-67A>T (n.3929-67A>T) | dbSNP |
16 | g.9763495T>C | CA394706215 | GRIN2A | c.4049A>G (p.Asp1350Gly) c.3302-67A>G (n.3302-67A>G) n.3366-67A>G c.3578A>G (p.Asp1193Gly) c.*1419A>G (n.*1419A>G) c.3638A>G (p.Asp1213Gly) n.3412-67A>G c.3362-67A>G (n.3362-67A>G) c.3773-67A>G (n.3773-67A>G) c.3890A>G (p.Asp1297Gly) c.3791A>G (p.Asp1264Gly) c.4205A>G (p.Asp1402Gly) c.3929-67A>G (n.3929-67A>G) | dbSNP |
16 | g.9763495T>G | CA394706214 | GRIN2A | c.4049A>C (p.Asp1350Ala) c.3302-67A>C (n.3302-67A>C) n.3366-67A>C c.3578A>C (p.Asp1193Ala) c.*1419A>C (n.*1419A>C) c.3638A>C (p.Asp1213Ala) n.3412-67A>C c.3362-67A>C (n.3362-67A>C) c.3773-67A>C (n.3773-67A>C) c.3890A>C (p.Asp1297Ala) c.3791A>C (p.Asp1264Ala) c.4205A>C (p.Asp1402Ala) c.3929-67A>C (n.3929-67A>C) | dbSNP |
16 | g.9763496C>A | CA394706217 | GRIN2A | c.4048G>T (p.Asp1350Tyr) c.3302-68G>T (n.3302-68G>T) n.3366-68G>T c.3577G>T (p.Asp1193Tyr) c.*1418G>T (n.*1418G>T) c.3637G>T (p.Asp1213Tyr) n.3412-68G>T c.3362-68G>T (n.3362-68G>T) c.3773-68G>T (n.3773-68G>T) c.3889G>T (p.Asp1297Tyr) c.3790G>T (p.Asp1264Tyr) c.4204G>T (p.Asp1402Tyr) c.3929-68G>T (n.3929-68G>T) | dbSNP |
16 | g.9763496C>G | CA394706218 | GRIN2A | c.4048G>C (p.Asp1350His) c.3302-68G>C (n.3302-68G>C) n.3366-68G>C c.3577G>C (p.Asp1193His) c.*1418G>C (n.*1418G>C) c.3637G>C (p.Asp1213His) n.3412-68G>C c.3362-68G>C (n.3362-68G>C) c.3773-68G>C (n.3773-68G>C) c.3889G>C (p.Asp1297His) c.3790G>C (p.Asp1264His) c.4204G>C (p.Asp1402His) c.3929-68G>C (n.3929-68G>C) | dbSNP |
16 | g.9763496C>T | CA394706219 | GRIN2A | c.4048G>A (p.Asp1350Asn) c.3302-68G>A (n.3302-68G>A) n.3366-68G>A c.3577G>A (p.Asp1193Asn) c.*1418G>A (n.*1418G>A) c.3637G>A (p.Asp1213Asn) n.3412-68G>A c.3362-68G>A (n.3362-68G>A) c.3773-68G>A (n.3773-68G>A) c.3889G>A (p.Asp1297Asn) c.3790G>A (p.Asp1264Asn) c.4204G>A (p.Asp1402Asn) c.3929-68G>A (n.3929-68G>A) | dbSNP COSMIC |
16 | g.9763497C>A | CA394706220 | GRIN2A | c.4047G>T (p.Glu1349Asp) c.3302-69G>T (n.3302-69G>T) n.3366-69G>T c.3576G>T (p.Glu1192Asp) c.*1417G>T (n.*1417G>T) c.3636G>T (p.Glu1212Asp) n.3412-69G>T c.3362-69G>T (n.3362-69G>T) c.3773-69G>T (n.3773-69G>T) c.3888G>T (p.Glu1296Asp) c.3789G>T (p.Glu1263Asp) c.4203G>T (p.Glu1401Asp) c.3929-69G>T (n.3929-69G>T) | dbSNP |
16 | g.9763497C= | CA2206692742 | GRIN2A | c.4047G= (p.Glu1349=) c.3302-69G= (n.3302-69G=) n.3366-69G= c.3576G= (p.Glu1192=) c.*1417G= (n.*1417G=) c.3636G= (p.Glu1212=) n.3412-69G= c.3362-69G= (n.3362-69G=) c.3773-69G= (n.3773-69G=) c.3888G= (p.Glu1296=) c.3789G= (p.Glu1263=) c.4203G= (p.Glu1401=) c.3929-69G= (n.3929-69G=) | |
16 | g.9763497C>G | CA394706221 | GRIN2A | c.4047G>C (p.Glu1349Asp) c.3302-69G>C (n.3302-69G>C) n.3366-69G>C c.3576G>C (p.Glu1192Asp) c.*1417G>C (n.*1417G>C) c.3636G>C (p.Glu1212Asp) n.3412-69G>C c.3362-69G>C (n.3362-69G>C) c.3773-69G>C (n.3773-69G>C) c.3888G>C (p.Glu1296Asp) c.3789G>C (p.Glu1263Asp) c.4203G>C (p.Glu1401Asp) c.3929-69G>C (n.3929-69G>C) | dbSNP |
16 | g.9763497C>T | CA7896217 | GRIN2A | c.4047G>A (p.Glu1349=) c.3302-69G>A (n.3302-69G>A) n.3366-69G>A c.3576G>A (p.Glu1192=) c.*1417G>A (n.*1417G>A) c.3636G>A (p.Glu1212=) n.3412-69G>A c.3362-69G>A (n.3362-69G>A) c.3773-69G>A (n.3773-69G>A) c.3888G>A (p.Glu1296=) c.3789G>A (p.Glu1263=) c.4203G>A (p.Glu1401=) c.3929-69G>A (n.3929-69G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763498T>A | CA394706222 | GRIN2A | c.4046A>T (p.Glu1349Val) c.3302-70A>T (n.3302-70A>T) n.3366-70A>T c.3575A>T (p.Glu1192Val) c.*1416A>T (n.*1416A>T) c.3635A>T (p.Glu1212Val) n.3412-70A>T c.3362-70A>T (n.3362-70A>T) c.3773-70A>T (n.3773-70A>T) c.3887A>T (p.Glu1296Val) c.3788A>T (p.Glu1263Val) c.4202A>T (p.Glu1401Val) c.3929-70A>T (n.3929-70A>T) | |
16 | g.9763498T>C | CA394706223 | GRIN2A | c.4046A>G (p.Glu1349Gly) c.3302-70A>G (n.3302-70A>G) n.3366-70A>G c.3575A>G (p.Glu1192Gly) c.*1416A>G (n.*1416A>G) c.3635A>G (p.Glu1212Gly) n.3412-70A>G c.3362-70A>G (n.3362-70A>G) c.3773-70A>G (n.3773-70A>G) c.3887A>G (p.Glu1296Gly) c.3788A>G (p.Glu1263Gly) c.4202A>G (p.Glu1401Gly) c.3929-70A>G (n.3929-70A>G) | |
16 | g.9763498T>G | CA394706224 | GRIN2A | c.4046A>C (p.Glu1349Ala) c.3302-70A>C (n.3302-70A>C) n.3366-70A>C c.3575A>C (p.Glu1192Ala) c.*1416A>C (n.*1416A>C) c.3635A>C (p.Glu1212Ala) n.3412-70A>C c.3362-70A>C (n.3362-70A>C) c.3773-70A>C (n.3773-70A>C) c.3887A>C (p.Glu1296Ala) c.3788A>C (p.Glu1263Ala) c.4202A>C (p.Glu1401Ala) c.3929-70A>C (n.3929-70A>C) | |
16 | g.9763499C>A | CA394706225 | GRIN2A | c.4045G>T (p.Glu1349Ter) c.3302-71G>T (n.3302-71G>T) n.3366-71G>T c.3574G>T (p.Glu1192Ter) c.*1415G>T (n.*1415G>T) c.3634G>T (p.Glu1212Ter) n.3412-71G>T c.3362-71G>T (n.3362-71G>T) c.3773-71G>T (n.3773-71G>T) c.3886G>T (p.Glu1296Ter) c.3787G>T (p.Glu1263Ter) c.4201G>T (p.Glu1401Ter) c.3929-71G>T (n.3929-71G>T) | dbSNP |
16 | g.9763499C= | CA2206692743 | GRIN2A | c.4045G= (p.Glu1349=) c.3302-71G= (n.3302-71G=) n.3366-71G= c.3574G= (p.Glu1192=) c.*1415G= (n.*1415G=) c.3634G= (p.Glu1212=) n.3412-71G= c.3362-71G= (n.3362-71G=) c.3773-71G= (n.3773-71G=) c.3886G= (p.Glu1296=) c.3787G= (p.Glu1263=) c.4201G= (p.Glu1401=) c.3929-71G= (n.3929-71G=) | |
16 | g.9763499C>G | CA394706226 | GRIN2A | c.4045G>C (p.Glu1349Gln) c.3302-71G>C (n.3302-71G>C) n.3366-71G>C c.3574G>C (p.Glu1192Gln) c.*1415G>C (n.*1415G>C) c.3634G>C (p.Glu1212Gln) n.3412-71G>C c.3362-71G>C (n.3362-71G>C) c.3773-71G>C (n.3773-71G>C) c.3886G>C (p.Glu1296Gln) c.3787G>C (p.Glu1263Gln) c.4201G>C (p.Glu1401Gln) c.3929-71G>C (n.3929-71G>C) | dbSNP gnomAD v4 |
16 | g.9763499C>T | CA394706227 | GRIN2A | c.4045G>A (p.Glu1349Lys) c.3302-71G>A (n.3302-71G>A) n.3366-71G>A c.3574G>A (p.Glu1192Lys) c.*1415G>A (n.*1415G>A) c.3634G>A (p.Glu1212Lys) n.3412-71G>A c.3362-71G>A (n.3362-71G>A) c.3773-71G>A (n.3773-71G>A) c.3886G>A (p.Glu1296Lys) c.3787G>A (p.Glu1263Lys) c.4201G>A (p.Glu1401Lys) c.3929-71G>A (n.3929-71G>A) | dbSNP |
16 | g.9763500C>A | CA493692759 | GRIN2A | c.4044G>T (p.Leu1348=) c.3302-72G>T (n.3302-72G>T) n.3366-72G>T c.3573G>T (p.Leu1191=) c.*1414G>T (n.*1414G>T) c.3633G>T (p.Leu1211=) n.3412-72G>T c.3362-72G>T (n.3362-72G>T) c.3773-72G>T (n.3773-72G>T) c.3885G>T (p.Leu1295=) c.3786G>T (p.Leu1262=) c.4200G>T (p.Leu1400=) c.3929-72G>T (n.3929-72G>T) | dbSNP |
16 | g.9763500C= | CA2206692744 | GRIN2A | c.4044G= (p.Leu1348=) c.3302-72G= (n.3302-72G=) n.3366-72G= c.3573G= (p.Leu1191=) c.*1414G= (n.*1414G=) c.3633G= (p.Leu1211=) n.3412-72G= c.3362-72G= (n.3362-72G=) c.3773-72G= (n.3773-72G=) c.3885G= (p.Leu1295=) c.3786G= (p.Leu1262=) c.4200G= (p.Leu1400=) c.3929-72G= (n.3929-72G=) | |
16 | g.9763500C>G | CA493692757 | GRIN2A | c.4044G>C (p.Leu1348=) c.3302-72G>C (n.3302-72G>C) n.3366-72G>C c.3573G>C (p.Leu1191=) c.*1414G>C (n.*1414G>C) c.3633G>C (p.Leu1211=) n.3412-72G>C c.3362-72G>C (n.3362-72G>C) c.3773-72G>C (n.3773-72G>C) c.3885G>C (p.Leu1295=) c.3786G>C (p.Leu1262=) c.4200G>C (p.Leu1400=) c.3929-72G>C (n.3929-72G>C) | dbSNP |
16 | g.9763500C>T | CA493692758 | GRIN2A | c.4044G>A (p.Leu1348=) c.3302-72G>A (n.3302-72G>A) n.3366-72G>A c.3573G>A (p.Leu1191=) c.*1414G>A (n.*1414G>A) c.3633G>A (p.Leu1211=) n.3412-72G>A c.3362-72G>A (n.3362-72G>A) c.3773-72G>A (n.3773-72G>A) c.3885G>A (p.Leu1295=) c.3786G>A (p.Leu1262=) c.4200G>A (p.Leu1400=) c.3929-72G>A (n.3929-72G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763501A>C | CA394706229 | GRIN2A | c.4043T>G (p.Leu1348Arg) c.3302-73T>G (n.3302-73T>G) n.3366-73T>G c.3572T>G (p.Leu1191Arg) c.*1413T>G (n.*1413T>G) c.3632T>G (p.Leu1211Arg) n.3412-73T>G c.3362-73T>G (n.3362-73T>G) c.3773-73T>G (n.3773-73T>G) c.3884T>G (p.Leu1295Arg) c.3785T>G (p.Leu1262Arg) c.4199T>G (p.Leu1400Arg) c.3929-73T>G (n.3929-73T>G) | |
16 | g.9763501A>G | CA394706230 | GRIN2A | c.4043T>C (p.Leu1348Pro) c.3302-73T>C (n.3302-73T>C) n.3366-73T>C c.3572T>C (p.Leu1191Pro) c.*1413T>C (n.*1413T>C) c.3632T>C (p.Leu1211Pro) n.3412-73T>C c.3362-73T>C (n.3362-73T>C) c.3773-73T>C (n.3773-73T>C) c.3884T>C (p.Leu1295Pro) c.3785T>C (p.Leu1262Pro) c.4199T>C (p.Leu1400Pro) c.3929-73T>C (n.3929-73T>C) | gnomAD v4 |
16 | g.9763501A>T | CA394706228 | GRIN2A | c.4043T>A (p.Leu1348Gln) c.3302-73T>A (n.3302-73T>A) n.3366-73T>A c.3572T>A (p.Leu1191Gln) c.*1413T>A (n.*1413T>A) c.3632T>A (p.Leu1211Gln) n.3412-73T>A c.3362-73T>A (n.3362-73T>A) c.3773-73T>A (n.3773-73T>A) c.3884T>A (p.Leu1295Gln) c.3785T>A (p.Leu1262Gln) c.4199T>A (p.Leu1400Gln) c.3929-73T>A (n.3929-73T>A) | |
16 | g.9763502G>A | CA493692763 | GRIN2A | c.4042C>T (p.Leu1348=) c.3302-74C>T (n.3302-74C>T) n.3366-74C>T c.3571C>T (p.Leu1191=) c.*1412C>T (n.*1412C>T) c.3631C>T (p.Leu1211=) n.3412-74C>T c.3362-74C>T (n.3362-74C>T) c.3773-74C>T (n.3773-74C>T) c.3883C>T (p.Leu1295=) c.3784C>T (p.Leu1262=) c.4198C>T (p.Leu1400=) c.3929-74C>T (n.3929-74C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763502G>C | CA394706232 | GRIN2A | c.4042C>G (p.Leu1348Val) c.3302-74C>G (n.3302-74C>G) n.3366-74C>G c.3571C>G (p.Leu1191Val) c.*1412C>G (n.*1412C>G) c.3631C>G (p.Leu1211Val) n.3412-74C>G c.3362-74C>G (n.3362-74C>G) c.3773-74C>G (n.3773-74C>G) c.3883C>G (p.Leu1295Val) c.3784C>G (p.Leu1262Val) c.4198C>G (p.Leu1400Val) c.3929-74C>G (n.3929-74C>G) | dbSNP |
16 | g.9763502G= | CA2206692745 | GRIN2A | c.4042C= (p.Leu1348=) c.3302-74C= (n.3302-74C=) n.3366-74C= c.3571C= (p.Leu1191=) c.*1412C= (n.*1412C=) c.3631C= (p.Leu1211=) n.3412-74C= c.3362-74C= (n.3362-74C=) c.3773-74C= (n.3773-74C=) c.3883C= (p.Leu1295=) c.3784C= (p.Leu1262=) c.4198C= (p.Leu1400=) c.3929-74C= (n.3929-74C=) | |
16 | g.9763502G>T | CA394706231 | GRIN2A | c.4042C>A (p.Leu1348Met) c.3302-74C>A (n.3302-74C>A) n.3366-74C>A c.3571C>A (p.Leu1191Met) c.*1412C>A (n.*1412C>A) c.3631C>A (p.Leu1211Met) n.3412-74C>A c.3362-74C>A (n.3362-74C>A) c.3773-74C>A (n.3773-74C>A) c.3883C>A (p.Leu1295Met) c.3784C>A (p.Leu1262Met) c.4198C>A (p.Leu1400Met) c.3929-74C>A (n.3929-74C>A) | dbSNP |
16 | g.9763503A>C | CA493692764 | GRIN2A | c.4041T>G (p.Gly1347=) c.3302-75T>G (n.3302-75T>G) n.3366-75T>G c.3570T>G (p.Gly1190=) c.*1411T>G (n.*1411T>G) c.3630T>G (p.Gly1210=) n.3412-75T>G c.3362-75T>G (n.3362-75T>G) c.3773-75T>G (n.3773-75T>G) c.3882T>G (p.Gly1294=) c.3783T>G (p.Gly1261=) c.4197T>G (p.Gly1399=) c.3929-75T>G (n.3929-75T>G) | dbSNP |
16 | g.9763503A>G | CA493692765 | GRIN2A | c.4041T>C (p.Gly1347=) c.3302-75T>C (n.3302-75T>C) n.3366-75T>C c.3570T>C (p.Gly1190=) c.*1411T>C (n.*1411T>C) c.3630T>C (p.Gly1210=) n.3412-75T>C c.3362-75T>C (n.3362-75T>C) c.3773-75T>C (n.3773-75T>C) c.3882T>C (p.Gly1294=) c.3783T>C (p.Gly1261=) c.4197T>C (p.Gly1399=) c.3929-75T>C (n.3929-75T>C) | |
16 | g.9763503A>T | CA493692766 | GRIN2A | c.4041T>A (p.Gly1347=) c.3302-75T>A (n.3302-75T>A) n.3366-75T>A c.3570T>A (p.Gly1190=) c.*1411T>A (n.*1411T>A) c.3630T>A (p.Gly1210=) n.3412-75T>A c.3362-75T>A (n.3362-75T>A) c.3773-75T>A (n.3773-75T>A) c.3882T>A (p.Gly1294=) c.3783T>A (p.Gly1261=) c.4197T>A (p.Gly1399=) c.3929-75T>A (n.3929-75T>A) | dbSNP |
16 | g.9763504C>A | CA394706233 | GRIN2A | c.4040G>T (p.Gly1347Val) c.3302-76G>T (n.3302-76G>T) n.3366-76G>T c.3569G>T (p.Gly1190Val) c.*1410G>T (n.*1410G>T) c.3629G>T (p.Gly1210Val) n.3412-76G>T c.3362-76G>T (n.3362-76G>T) c.3773-76G>T (n.3773-76G>T) c.3881G>T (p.Gly1294Val) c.3782G>T (p.Gly1261Val) c.4196G>T (p.Gly1399Val) c.3929-76G>T (n.3929-76G>T) | |
16 | g.9763504C= | CA2206692746 | GRIN2A | c.4040G= (p.Gly1347=) c.3302-76G= (n.3302-76G=) n.3366-76G= c.3569G= (p.Gly1190=) c.*1410G= (n.*1410G=) c.3629G= (p.Gly1210=) n.3412-76G= c.3362-76G= (n.3362-76G=) c.3773-76G= (n.3773-76G=) c.3881G= (p.Gly1294=) c.3782G= (p.Gly1261=) c.4196G= (p.Gly1399=) c.3929-76G= (n.3929-76G=) | |
16 | g.9763504C>G | CA394706234 | GRIN2A | c.4040G>C (p.Gly1347Ala) c.3302-76G>C (n.3302-76G>C) n.3366-76G>C c.3569G>C (p.Gly1190Ala) c.*1410G>C (n.*1410G>C) c.3629G>C (p.Gly1210Ala) n.3412-76G>C c.3362-76G>C (n.3362-76G>C) c.3773-76G>C (n.3773-76G>C) c.3881G>C (p.Gly1294Ala) c.3782G>C (p.Gly1261Ala) c.4196G>C (p.Gly1399Ala) c.3929-76G>C (n.3929-76G>C) | dbSNP |
16 | g.9763504C>T | CA394706235 | GRIN2A | c.4040G>A (p.Gly1347Asp) c.3302-76G>A (n.3302-76G>A) n.3366-76G>A c.3569G>A (p.Gly1190Asp) c.*1410G>A (n.*1410G>A) c.3629G>A (p.Gly1210Asp) n.3412-76G>A c.3362-76G>A (n.3362-76G>A) c.3773-76G>A (n.3773-76G>A) c.3881G>A (p.Gly1294Asp) c.3782G>A (p.Gly1261Asp) c.4196G>A (p.Gly1399Asp) c.3929-76G>A (n.3929-76G>A) | dbSNP gnomAD v4 COSMIC |
16 | g.9763505C>A | CA394706236 | GRIN2A | c.4039G>T (p.Gly1347Cys) c.3302-77G>T (n.3302-77G>T) n.3366-77G>T c.3568G>T (p.Gly1190Cys) c.*1409G>T (n.*1409G>T) c.3628G>T (p.Gly1210Cys) n.3412-77G>T c.3362-77G>T (n.3362-77G>T) c.3773-77G>T (n.3773-77G>T) c.3880G>T (p.Gly1294Cys) c.3781G>T (p.Gly1261Cys) c.4195G>T (p.Gly1399Cys) c.3929-77G>T (n.3929-77G>T) | dbSNP |
16 | g.9763505C= | CA2206692747 | GRIN2A | c.4039G= (p.Gly1347=) c.3302-77G= (n.3302-77G=) n.3366-77G= c.3568G= (p.Gly1190=) c.*1409G= (n.*1409G=) c.3628G= (p.Gly1210=) n.3412-77G= c.3362-77G= (n.3362-77G=) c.3773-77G= (n.3773-77G=) c.3880G= (p.Gly1294=) c.3781G= (p.Gly1261=) c.4195G= (p.Gly1399=) c.3929-77G= (n.3929-77G=) | |
16 | g.9763505C>G | CA394706237 | GRIN2A | c.4039G>C (p.Gly1347Arg) c.3302-77G>C (n.3302-77G>C) n.3366-77G>C c.3568G>C (p.Gly1190Arg) c.*1409G>C (n.*1409G>C) c.3628G>C (p.Gly1210Arg) n.3412-77G>C c.3362-77G>C (n.3362-77G>C) c.3773-77G>C (n.3773-77G>C) c.3880G>C (p.Gly1294Arg) c.3781G>C (p.Gly1261Arg) c.4195G>C (p.Gly1399Arg) c.3929-77G>C (n.3929-77G>C) | dbSNP |
16 | g.9763505C>T | CA394706238 | GRIN2A | c.4039G>A (p.Gly1347Ser) c.3302-77G>A (n.3302-77G>A) n.3366-77G>A c.3568G>A (p.Gly1190Ser) c.*1409G>A (n.*1409G>A) c.3628G>A (p.Gly1210Ser) n.3412-77G>A c.3362-77G>A (n.3362-77G>A) c.3773-77G>A (n.3773-77G>A) c.3880G>A (p.Gly1294Ser) c.3781G>A (p.Gly1261Ser) c.4195G>A (p.Gly1399Ser) c.3929-77G>A (n.3929-77G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9763506T>A | CA394706239 | GRIN2A | c.4038A>T (p.Gln1346His) c.3302-78A>T (n.3302-78A>T) n.3366-78A>T c.3567A>T (p.Gln1189His) c.*1408A>T (n.*1408A>T) c.3627A>T (p.Gln1209His) n.3412-78A>T c.3362-78A>T (n.3362-78A>T) c.3773-78A>T (n.3773-78A>T) c.3879A>T (p.Gln1293His) c.3780A>T (p.Gln1260His) c.4194A>T (p.Gln1398His) c.3929-78A>T (n.3929-78A>T) | dbSNP gnomAD v4 |
16 | g.9763506T>C | CA7896218 | GRIN2A | c.4038A>G (p.Gln1346=) c.3302-78A>G (n.3302-78A>G) n.3366-78A>G c.3567A>G (p.Gln1189=) c.*1408A>G (n.*1408A>G) c.3627A>G (p.Gln1209=) n.3412-78A>G c.3362-78A>G (n.3362-78A>G) c.3773-78A>G (n.3773-78A>G) c.3879A>G (p.Gln1293=) c.3780A>G (p.Gln1260=) c.4194A>G (p.Gln1398=) c.3929-78A>G (n.3929-78A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763506T>G | CA394706240 | GRIN2A | c.4038A>C (p.Gln1346His) c.3302-78A>C (n.3302-78A>C) n.3366-78A>C c.3567A>C (p.Gln1189His) c.*1408A>C (n.*1408A>C) c.3627A>C (p.Gln1209His) n.3412-78A>C c.3362-78A>C (n.3362-78A>C) c.3773-78A>C (n.3773-78A>C) c.3879A>C (p.Gln1293His) c.3780A>C (p.Gln1260His) c.4194A>C (p.Gln1398His) c.3929-78A>C (n.3929-78A>C) | dbSNP gnomAD v4 |
16 | g.9763506T= | CA2206692748 | GRIN2A | c.4038A= (p.Gln1346=) c.3302-78A= (n.3302-78A=) n.3366-78A= c.3567A= (p.Gln1189=) c.*1408A= (n.*1408A=) c.3627A= (p.Gln1209=) n.3412-78A= c.3362-78A= (n.3362-78A=) c.3773-78A= (n.3773-78A=) c.3879A= (p.Gln1293=) c.3780A= (p.Gln1260=) c.4194A= (p.Gln1398=) c.3929-78A= (n.3929-78A=) | |
16 | g.9763507T>A | CA394706241 | GRIN2A | c.4037A>T (p.Gln1346Leu) c.3302-79A>T (n.3302-79A>T) n.3366-79A>T c.3566A>T (p.Gln1189Leu) c.*1407A>T (n.*1407A>T) c.3626A>T (p.Gln1209Leu) n.3412-79A>T c.3362-79A>T (n.3362-79A>T) c.3773-79A>T (n.3773-79A>T) c.3878A>T (p.Gln1293Leu) c.3779A>T (p.Gln1260Leu) c.4193A>T (p.Gln1398Leu) c.3929-79A>T (n.3929-79A>T) | |
16 | g.9763507T>C | CA394706242 | GRIN2A | c.4037A>G (p.Gln1346Arg) c.3302-79A>G (n.3302-79A>G) n.3366-79A>G c.3566A>G (p.Gln1189Arg) c.*1407A>G (n.*1407A>G) c.3626A>G (p.Gln1209Arg) n.3412-79A>G c.3362-79A>G (n.3362-79A>G) c.3773-79A>G (n.3773-79A>G) c.3878A>G (p.Gln1293Arg) c.3779A>G (p.Gln1260Arg) c.4193A>G (p.Gln1398Arg) c.3929-79A>G (n.3929-79A>G) | |
16 | g.9763507T>G | CA394706243 | GRIN2A | c.4037A>C (p.Gln1346Pro) c.3302-79A>C (n.3302-79A>C) n.3366-79A>C c.3566A>C (p.Gln1189Pro) c.*1407A>C (n.*1407A>C) c.3626A>C (p.Gln1209Pro) n.3412-79A>C c.3362-79A>C (n.3362-79A>C) c.3773-79A>C (n.3773-79A>C) c.3878A>C (p.Gln1293Pro) c.3779A>C (p.Gln1260Pro) c.4193A>C (p.Gln1398Pro) c.3929-79A>C (n.3929-79A>C) | gnomAD v4 |
16 | g.9763508G>A | CA394706246 | GRIN2A | c.4036C>T (p.Gln1346Ter) c.3302-80C>T (n.3302-80C>T) n.3366-80C>T c.3565C>T (p.Gln1189Ter) c.*1406C>T (n.*1406C>T) c.3625C>T (p.Gln1209Ter) n.3412-80C>T c.3362-80C>T (n.3362-80C>T) c.3773-80C>T (n.3773-80C>T) c.3877C>T (p.Gln1293Ter) c.3778C>T (p.Gln1260Ter) c.4192C>T (p.Gln1398Ter) c.3929-80C>T (n.3929-80C>T) | dbSNP |
16 | g.9763508G>C | CA394706244 | GRIN2A | c.4036C>G (p.Gln1346Glu) c.3302-80C>G (n.3302-80C>G) n.3366-80C>G c.3565C>G (p.Gln1189Glu) c.*1406C>G (n.*1406C>G) c.3625C>G (p.Gln1209Glu) n.3412-80C>G c.3362-80C>G (n.3362-80C>G) c.3773-80C>G (n.3773-80C>G) c.3877C>G (p.Gln1293Glu) c.3778C>G (p.Gln1260Glu) c.4192C>G (p.Gln1398Glu) c.3929-80C>G (n.3929-80C>G) | dbSNP |
16 | g.9763508G= | CA2206692749 | GRIN2A | c.4036C= (p.Gln1346=) c.3302-80C= (n.3302-80C=) n.3366-80C= c.3565C= (p.Gln1189=) c.*1406C= (n.*1406C=) c.3625C= (p.Gln1209=) n.3412-80C= c.3362-80C= (n.3362-80C=) c.3773-80C= (n.3773-80C=) c.3877C= (p.Gln1293=) c.3778C= (p.Gln1260=) c.4192C= (p.Gln1398=) c.3929-80C= (n.3929-80C=) | |
16 | g.9763508G>T | CA394706245 | GRIN2A | c.4036C>A (p.Gln1346Lys) c.3302-80C>A (n.3302-80C>A) n.3366-80C>A c.3565C>A (p.Gln1189Lys) c.*1406C>A (n.*1406C>A) c.3625C>A (p.Gln1209Lys) n.3412-80C>A c.3362-80C>A (n.3362-80C>A) c.3773-80C>A (n.3773-80C>A) c.3877C>A (p.Gln1293Lys) c.3778C>A (p.Gln1260Lys) c.4192C>A (p.Gln1398Lys) c.3929-80C>A (n.3929-80C>A) | dbSNP |
16 | g.9763509G>A | CA277536231 | GRIN2A | c.4035C>T (p.Pro1345=) c.3302-81C>T (n.3302-81C>T) n.3366-81C>T c.3564C>T (p.Pro1188=) c.*1405C>T (n.*1405C>T) c.3624C>T (p.Pro1208=) n.3412-81C>T c.3362-81C>T (n.3362-81C>T) c.3773-81C>T (n.3773-81C>T) c.3876C>T (p.Pro1292=) c.3777C>T (p.Pro1259=) c.4191C>T (p.Pro1397=) c.3929-81C>T (n.3929-81C>T) | dbSNP |
16 | g.9763509G>C | CA493692770 | GRIN2A | c.4035C>G (p.Pro1345=) c.3302-81C>G (n.3302-81C>G) n.3366-81C>G c.3564C>G (p.Pro1188=) c.*1405C>G (n.*1405C>G) c.3624C>G (p.Pro1208=) n.3412-81C>G c.3362-81C>G (n.3362-81C>G) c.3773-81C>G (n.3773-81C>G) c.3876C>G (p.Pro1292=) c.3777C>G (p.Pro1259=) c.4191C>G (p.Pro1397=) c.3929-81C>G (n.3929-81C>G) | dbSNP |
16 | g.9763509G= | CA2206692750 | GRIN2A | c.4035C= (p.Pro1345=) c.3302-81C= (n.3302-81C=) n.3366-81C= c.3564C= (p.Pro1188=) c.*1405C= (n.*1405C=) c.3624C= (p.Pro1208=) n.3412-81C= c.3362-81C= (n.3362-81C=) c.3773-81C= (n.3773-81C=) c.3876C= (p.Pro1292=) c.3777C= (p.Pro1259=) c.4191C= (p.Pro1397=) c.3929-81C= (n.3929-81C=) | |
16 | g.9763509G>T | CA493692771 | GRIN2A | c.4035C>A (p.Pro1345=) c.3302-81C>A (n.3302-81C>A) n.3366-81C>A c.3564C>A (p.Pro1188=) c.*1405C>A (n.*1405C>A) c.3624C>A (p.Pro1208=) n.3412-81C>A c.3362-81C>A (n.3362-81C>A) c.3773-81C>A (n.3773-81C>A) c.3876C>A (p.Pro1292=) c.3777C>A (p.Pro1259=) c.4191C>A (p.Pro1397=) c.3929-81C>A (n.3929-81C>A) | dbSNP |
16 | g.9763510G>A | CA394706247 | GRIN2A | c.4034C>T (p.Pro1345Leu) c.3302-82C>T (n.3302-82C>T) n.3366-82C>T c.3563C>T (p.Pro1188Leu) c.*1404C>T (n.*1404C>T) c.3623C>T (p.Pro1208Leu) n.3412-82C>T c.3362-82C>T (n.3362-82C>T) c.3773-82C>T (n.3773-82C>T) c.3875C>T (p.Pro1292Leu) c.3776C>T (p.Pro1259Leu) c.4190C>T (p.Pro1397Leu) c.3929-82C>T (n.3929-82C>T) | dbSNP COSMIC |
16 | g.9763510G>C | CA394706248 | GRIN2A | c.4034C>G (p.Pro1345Arg) c.3302-82C>G (n.3302-82C>G) n.3366-82C>G c.3563C>G (p.Pro1188Arg) c.*1404C>G (n.*1404C>G) c.3623C>G (p.Pro1208Arg) n.3412-82C>G c.3362-82C>G (n.3362-82C>G) c.3773-82C>G (n.3773-82C>G) c.3875C>G (p.Pro1292Arg) c.3776C>G (p.Pro1259Arg) c.4190C>G (p.Pro1397Arg) c.3929-82C>G (n.3929-82C>G) | dbSNP |
16 | g.9763510G>T | CA394706249 | GRIN2A | c.4034C>A (p.Pro1345His) c.3302-82C>A (n.3302-82C>A) n.3366-82C>A c.3563C>A (p.Pro1188His) c.*1404C>A (n.*1404C>A) c.3623C>A (p.Pro1208His) n.3412-82C>A c.3362-82C>A (n.3362-82C>A) c.3773-82C>A (n.3773-82C>A) c.3875C>A (p.Pro1292His) c.3776C>A (p.Pro1259His) c.4190C>A (p.Pro1397His) c.3929-82C>A (n.3929-82C>A) | dbSNP |
16 | g.9763511G>A | CA394706250 | GRIN2A | c.4033C>T (p.Pro1345Ser) c.3302-83C>T (n.3302-83C>T) n.3366-83C>T c.3562C>T (p.Pro1188Ser) c.*1403C>T (n.*1403C>T) c.3622C>T (p.Pro1208Ser) n.3412-83C>T c.3362-83C>T (n.3362-83C>T) c.3773-83C>T (n.3773-83C>T) c.3874C>T (p.Pro1292Ser) c.3775C>T (p.Pro1259Ser) c.4189C>T (p.Pro1397Ser) c.3929-83C>T (n.3929-83C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.9763511G>C | CA394706251 | GRIN2A | c.4033C>G (p.Pro1345Ala) c.3302-83C>G (n.3302-83C>G) n.3366-83C>G c.3562C>G (p.Pro1188Ala) c.*1403C>G (n.*1403C>G) c.3622C>G (p.Pro1208Ala) n.3412-83C>G c.3362-83C>G (n.3362-83C>G) c.3773-83C>G (n.3773-83C>G) c.3874C>G (p.Pro1292Ala) c.3775C>G (p.Pro1259Ala) c.4189C>G (p.Pro1397Ala) c.3929-83C>G (n.3929-83C>G) | dbSNP |
16 | g.9763511G>T | CA394706252 | GRIN2A | c.4033C>A (p.Pro1345Thr) c.3302-83C>A (n.3302-83C>A) n.3366-83C>A c.3562C>A (p.Pro1188Thr) c.*1403C>A (n.*1403C>A) c.3622C>A (p.Pro1208Thr) n.3412-83C>A c.3362-83C>A (n.3362-83C>A) c.3773-83C>A (n.3773-83C>A) c.3874C>A (p.Pro1292Thr) c.3775C>A (p.Pro1259Thr) c.4189C>A (p.Pro1397Thr) c.3929-83C>A (n.3929-83C>A) | |
16 | g.9763512G>A | CA493692773 | GRIN2A | c.4032C>T (p.Phe1344=) c.3302-84C>T (n.3302-84C>T) n.3366-84C>T c.3561C>T (p.Phe1187=) c.*1402C>T (n.*1402C>T) c.3621C>T (p.Phe1207=) n.3412-84C>T c.3362-84C>T (n.3362-84C>T) c.3773-84C>T (n.3773-84C>T) c.3873C>T (p.Phe1291=) c.3774C>T (p.Phe1258=) c.4188C>T (p.Phe1396=) c.3929-84C>T (n.3929-84C>T) | COSMIC |
16 | g.9763512G>C | CA394706253 | GRIN2A | c.4032C>G (p.Phe1344Leu) c.3302-84C>G (n.3302-84C>G) n.3366-84C>G c.3561C>G (p.Phe1187Leu) c.*1402C>G (n.*1402C>G) c.3621C>G (p.Phe1207Leu) n.3412-84C>G c.3362-84C>G (n.3362-84C>G) c.3773-84C>G (n.3773-84C>G) c.3873C>G (p.Phe1291Leu) c.3774C>G (p.Phe1258Leu) c.4188C>G (p.Phe1396Leu) c.3929-84C>G (n.3929-84C>G) | |
16 | g.9763512G>T | CA394706254 | GRIN2A | c.4032C>A (p.Phe1344Leu) c.3302-84C>A (n.3302-84C>A) n.3366-84C>A c.3561C>A (p.Phe1187Leu) c.*1402C>A (n.*1402C>A) c.3621C>A (p.Phe1207Leu) n.3412-84C>A c.3362-84C>A (n.3362-84C>A) c.3773-84C>A (n.3773-84C>A) c.3873C>A (p.Phe1291Leu) c.3774C>A (p.Phe1258Leu) c.4188C>A (p.Phe1396Leu) c.3929-84C>A (n.3929-84C>A) | ClinVar gnomAD v4 |
16 | g.9763513A= | CA2206692751 | GRIN2A | c.4031T= (p.Phe1344=) c.3302-85T= (n.3302-85T=) n.3366-85T= c.3560T= (p.Phe1187=) c.*1401T= (n.*1401T=) c.3620T= (p.Phe1207=) n.3412-85T= c.3362-85T= (n.3362-85T=) c.3773-85T= (n.3773-85T=) c.3872T= (p.Phe1291=) c.3773T= (p.Phe1258=) c.4187T= (p.Phe1396=) c.3929-85T= (n.3929-85T=) | |
16 | g.9763513A>C | CA394706255 | GRIN2A | c.4031T>G (p.Phe1344Cys) c.3302-85T>G (n.3302-85T>G) n.3366-85T>G c.3560T>G (p.Phe1187Cys) c.*1401T>G (n.*1401T>G) c.3620T>G (p.Phe1207Cys) n.3412-85T>G c.3362-85T>G (n.3362-85T>G) c.3773-85T>G (n.3773-85T>G) c.3872T>G (p.Phe1291Cys) c.3773T>G (p.Phe1258Cys) c.4187T>G (p.Phe1396Cys) c.3929-85T>G (n.3929-85T>G) | |
16 | g.9763513A>G | CA394706256 | GRIN2A | c.4031T>C (p.Phe1344Ser) c.3302-85T>C (n.3302-85T>C) n.3366-85T>C c.3560T>C (p.Phe1187Ser) c.*1401T>C (n.*1401T>C) c.3620T>C (p.Phe1207Ser) n.3412-85T>C c.3362-85T>C (n.3362-85T>C) c.3773-85T>C (n.3773-85T>C) c.3872T>C (p.Phe1291Ser) c.3773T>C (p.Phe1258Ser) c.4187T>C (p.Phe1396Ser) c.3929-85T>C (n.3929-85T>C) | ClinVar dbSNP gnomAD v4 |
16 | g.9763513A>T | CA394706257 | GRIN2A | c.4031T>A (p.Phe1344Tyr) c.3302-85T>A (n.3302-85T>A) n.3366-85T>A c.3560T>A (p.Phe1187Tyr) c.*1401T>A (n.*1401T>A) c.3620T>A (p.Phe1207Tyr) n.3412-85T>A c.3362-85T>A (n.3362-85T>A) c.3773-85T>A (n.3773-85T>A) c.3872T>A (p.Phe1291Tyr) c.3773T>A (p.Phe1258Tyr) c.4187T>A (p.Phe1396Tyr) c.3929-85T>A (n.3929-85T>A) | gnomAD v4 |
16 | g.9763514A>C | CA394706260 | GRIN2A | c.4030T>G (p.Phe1344Val) c.3302-86T>G (n.3302-86T>G) n.3366-86T>G c.3559T>G (p.Phe1187Val) c.*1400T>G (n.*1400T>G) c.3619T>G (p.Phe1207Val) n.3412-86T>G c.3362-86T>G (n.3362-86T>G) c.3773-86T>G (n.3773-86T>G) c.3871T>G (p.Phe1291Val) c.3772T>G (p.Phe1258Val) c.4186T>G (p.Phe1396Val) c.3929-86T>G (n.3929-86T>G) | |
16 | g.9763514A>G | CA394706259 | GRIN2A | c.4030T>C (p.Phe1344Leu) c.3302-86T>C (n.3302-86T>C) n.3366-86T>C c.3559T>C (p.Phe1187Leu) c.*1400T>C (n.*1400T>C) c.3619T>C (p.Phe1207Leu) n.3412-86T>C c.3362-86T>C (n.3362-86T>C) c.3773-86T>C (n.3773-86T>C) c.3871T>C (p.Phe1291Leu) c.3772T>C (p.Phe1258Leu) c.4186T>C (p.Phe1396Leu) c.3929-86T>C (n.3929-86T>C) | ClinVar dbSNP gnomAD v4 |
16 | g.9763514A>T | CA394706258 | GRIN2A | c.4030T>A (p.Phe1344Ile) c.3302-86T>A (n.3302-86T>A) n.3366-86T>A c.3559T>A (p.Phe1187Ile) c.*1400T>A (n.*1400T>A) c.3619T>A (p.Phe1207Ile) n.3412-86T>A c.3362-86T>A (n.3362-86T>A) c.3773-86T>A (n.3773-86T>A) c.3871T>A (p.Phe1291Ile) c.3772T>A (p.Phe1258Ile) c.4186T>A (p.Phe1396Ile) c.3929-86T>A (n.3929-86T>A) | |
16 | g.9763515A>C | CA493692774 | GRIN2A | c.4029T>G (p.Leu1343=) c.3302-87T>G (n.3302-87T>G) n.3366-87T>G c.3558T>G (p.Leu1186=) c.*1399T>G (n.*1399T>G) c.3618T>G (p.Leu1206=) n.3412-87T>G c.3362-87T>G (n.3362-87T>G) c.3773-87T>G (n.3773-87T>G) c.3870T>G (p.Leu1290=) c.3771T>G (p.Leu1257=) c.4185T>G (p.Leu1395=) c.3929-87T>G (n.3929-87T>G) | |
16 | g.9763515A>G | CA493692776 | GRIN2A | c.4029T>C (p.Leu1343=) c.3302-87T>C (n.3302-87T>C) n.3366-87T>C c.3558T>C (p.Leu1186=) c.*1399T>C (n.*1399T>C) c.3618T>C (p.Leu1206=) n.3412-87T>C c.3362-87T>C (n.3362-87T>C) c.3773-87T>C (n.3773-87T>C) c.3870T>C (p.Leu1290=) c.3771T>C (p.Leu1257=) c.4185T>C (p.Leu1395=) c.3929-87T>C (n.3929-87T>C) | dbSNP |
16 | g.9763515A>T | CA493692778 | GRIN2A | c.4029T>A (p.Leu1343=) c.3302-87T>A (n.3302-87T>A) n.3366-87T>A c.3558T>A (p.Leu1186=) c.*1399T>A (n.*1399T>A) c.3618T>A (p.Leu1206=) n.3412-87T>A c.3362-87T>A (n.3362-87T>A) c.3773-87T>A (n.3773-87T>A) c.3870T>A (p.Leu1290=) c.3771T>A (p.Leu1257=) c.4185T>A (p.Leu1395=) c.3929-87T>A (n.3929-87T>A) | dbSNP |
16 | g.9763516A= | CA2206692752 | GRIN2A | c.4028T= (p.Leu1343=) c.3302-88T= (n.3302-88T=) n.3366-88T= c.3557T= (p.Leu1186=) c.*1398T= (n.*1398T=) c.3617T= (p.Leu1206=) n.3412-88T= c.3362-88T= (n.3362-88T=) c.3773-88T= (n.3773-88T=) c.3869T= (p.Leu1290=) c.3770T= (p.Leu1257=) c.4184T= (p.Leu1395=) c.3929-88T= (n.3929-88T=) | |
16 | g.9763516A>C | CA394706261 | GRIN2A | c.4028T>G (p.Leu1343Arg) c.3302-88T>G (n.3302-88T>G) n.3366-88T>G c.3557T>G (p.Leu1186Arg) c.*1398T>G (n.*1398T>G) c.3617T>G (p.Leu1206Arg) n.3412-88T>G c.3362-88T>G (n.3362-88T>G) c.3773-88T>G (n.3773-88T>G) c.3869T>G (p.Leu1290Arg) c.3770T>G (p.Leu1257Arg) c.4184T>G (p.Leu1395Arg) c.3929-88T>G (n.3929-88T>G) | |
16 | g.9763516A>G | CA394706262 | GRIN2A | c.4028T>C (p.Leu1343Pro) c.3302-88T>C (n.3302-88T>C) n.3366-88T>C c.3557T>C (p.Leu1186Pro) c.*1398T>C (n.*1398T>C) c.3617T>C (p.Leu1206Pro) n.3412-88T>C c.3362-88T>C (n.3362-88T>C) c.3773-88T>C (n.3773-88T>C) c.3869T>C (p.Leu1290Pro) c.3770T>C (p.Leu1257Pro) c.4184T>C (p.Leu1395Pro) c.3929-88T>C (n.3929-88T>C) | dbSNP |
16 | g.9763516A>T | CA394706263 | GRIN2A | c.4028T>A (p.Leu1343His) c.3302-88T>A (n.3302-88T>A) n.3366-88T>A c.3557T>A (p.Leu1186His) c.*1398T>A (n.*1398T>A) c.3617T>A (p.Leu1206His) n.3412-88T>A c.3362-88T>A (n.3362-88T>A) c.3773-88T>A (n.3773-88T>A) c.3869T>A (p.Leu1290His) c.3770T>A (p.Leu1257His) c.4184T>A (p.Leu1395His) c.3929-88T>A (n.3929-88T>A) | dbSNP gnomAD v2 |
16 | g.9763517G>A | CA394706264 | GRIN2A | c.4027C>T (p.Leu1343Phe) c.3302-89C>T (n.3302-89C>T) n.3366-89C>T c.3556C>T (p.Leu1186Phe) c.*1397C>T (n.*1397C>T) c.3616C>T (p.Leu1206Phe) n.3412-89C>T c.3362-89C>T (n.3362-89C>T) c.3773-89C>T (n.3773-89C>T) c.3868C>T (p.Leu1290Phe) c.3769C>T (p.Leu1257Phe) c.4183C>T (p.Leu1395Phe) c.3929-89C>T (n.3929-89C>T) | dbSNP |
16 | g.9763517G>C | CA394706265 | GRIN2A | c.4027C>G (p.Leu1343Val) c.3302-89C>G (n.3302-89C>G) n.3366-89C>G c.3556C>G (p.Leu1186Val) c.*1397C>G (n.*1397C>G) c.3616C>G (p.Leu1206Val) n.3412-89C>G c.3362-89C>G (n.3362-89C>G) c.3773-89C>G (n.3773-89C>G) c.3868C>G (p.Leu1290Val) c.3769C>G (p.Leu1257Val) c.4183C>G (p.Leu1395Val) c.3929-89C>G (n.3929-89C>G) | dbSNP |
16 | g.9763517G>T | CA394706266 | GRIN2A | c.4027C>A (p.Leu1343Ile) c.3302-89C>A (n.3302-89C>A) n.3366-89C>A c.3556C>A (p.Leu1186Ile) c.*1397C>A (n.*1397C>A) c.3616C>A (p.Leu1206Ile) n.3412-89C>A c.3362-89C>A (n.3362-89C>A) c.3773-89C>A (n.3773-89C>A) c.3868C>A (p.Leu1290Ile) c.3769C>A (p.Leu1257Ile) c.4183C>A (p.Leu1395Ile) c.3929-89C>A (n.3929-89C>A) | COSMIC |
16 | g.9763518G>A | CA493692780 | GRIN2A | c.4026C>T (p.Ser1342=) c.3302-90C>T (n.3302-90C>T) n.3366-90C>T c.3555C>T (p.Ser1185=) c.*1396C>T (n.*1396C>T) c.3615C>T (p.Ser1205=) n.3412-90C>T c.3362-90C>T (n.3362-90C>T) c.3773-90C>T (n.3773-90C>T) c.3867C>T (p.Ser1289=) c.3768C>T (p.Ser1256=) c.4182C>T (p.Ser1394=) c.3929-90C>T (n.3929-90C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763518G>C | CA493692781 | GRIN2A | c.4026C>G (p.Ser1342=) c.3302-90C>G (n.3302-90C>G) n.3366-90C>G c.3555C>G (p.Ser1185=) c.*1396C>G (n.*1396C>G) c.3615C>G (p.Ser1205=) n.3412-90C>G c.3362-90C>G (n.3362-90C>G) c.3773-90C>G (n.3773-90C>G) c.3867C>G (p.Ser1289=) c.3768C>G (p.Ser1256=) c.4182C>G (p.Ser1394=) c.3929-90C>G (n.3929-90C>G) | |
16 | g.9763518G= | CA2206692753 | GRIN2A | c.4026C= (p.Ser1342=) c.3302-90C= (n.3302-90C=) n.3366-90C= c.3555C= (p.Ser1185=) c.*1396C= (n.*1396C=) c.3615C= (p.Ser1205=) n.3412-90C= c.3362-90C= (n.3362-90C=) c.3773-90C= (n.3773-90C=) c.3867C= (p.Ser1289=) c.3768C= (p.Ser1256=) c.4182C= (p.Ser1394=) c.3929-90C= (n.3929-90C=) | |
16 | g.9763518G>T | CA493692782 | GRIN2A | c.4026C>A (p.Ser1342=) c.3302-90C>A (n.3302-90C>A) n.3366-90C>A c.3555C>A (p.Ser1185=) c.*1396C>A (n.*1396C>A) c.3615C>A (p.Ser1205=) n.3412-90C>A c.3362-90C>A (n.3362-90C>A) c.3773-90C>A (n.3773-90C>A) c.3867C>A (p.Ser1289=) c.3768C>A (p.Ser1256=) c.4182C>A (p.Ser1394=) c.3929-90C>A (n.3929-90C>A) | |
16 | g.9763519G>A | CA394706270 | GRIN2A | c.4025C>T (p.Ser1342Phe) c.3302-91C>T (n.3302-91C>T) n.3366-91C>T c.3554C>T (p.Ser1185Phe) c.*1395C>T (n.*1395C>T) c.3614C>T (p.Ser1205Phe) n.3412-91C>T c.3362-91C>T (n.3362-91C>T) c.3773-91C>T (n.3773-91C>T) c.3866C>T (p.Ser1289Phe) c.3767C>T (p.Ser1256Phe) c.4181C>T (p.Ser1394Phe) c.3929-91C>T (n.3929-91C>T) | dbSNP |
16 | g.9763519G>C | CA394706267 | GRIN2A | c.4025C>G (p.Ser1342Cys) c.3302-91C>G (n.3302-91C>G) n.3366-91C>G c.3554C>G (p.Ser1185Cys) c.*1395C>G (n.*1395C>G) c.3614C>G (p.Ser1205Cys) n.3412-91C>G c.3362-91C>G (n.3362-91C>G) c.3773-91C>G (n.3773-91C>G) c.3866C>G (p.Ser1289Cys) c.3767C>G (p.Ser1256Cys) c.4181C>G (p.Ser1394Cys) c.3929-91C>G (n.3929-91C>G) | dbSNP |
16 | g.9763519G>T | CA394706269 | GRIN2A | c.4025C>A (p.Ser1342Tyr) c.3302-91C>A (n.3302-91C>A) n.3366-91C>A c.3554C>A (p.Ser1185Tyr) c.*1395C>A (n.*1395C>A) c.3614C>A (p.Ser1205Tyr) n.3412-91C>A c.3362-91C>A (n.3362-91C>A) c.3773-91C>A (n.3773-91C>A) c.3866C>A (p.Ser1289Tyr) c.3767C>A (p.Ser1256Tyr) c.4181C>A (p.Ser1394Tyr) c.3929-91C>A (n.3929-91C>A) | dbSNP |