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.9763381T>A | CA394705937 | GRIN2A | c.4163A>T (p.Lys1388Ile) c.3349A>T (p.Asn1117Tyr) n.3413A>T c.3692A>T (p.Lys1231Ile) c.*1533A>T (n.*1533A>T) c.3752A>T (p.Lys1251Ile) n.3459A>T c.3409A>T (p.Asn1137Tyr) c.3820A>T (p.Asn1274Tyr) c.4004A>T (p.Lys1335Ile) c.3905A>T (p.Lys1302Ile) c.4319A>T (p.Lys1440Ile) c.3976A>T (p.Asn1326Tyr) | dbSNP |
16 | g.9763381T>C | CA394705938 | GRIN2A | c.4163A>G (p.Lys1388Arg) c.3349A>G (p.Asn1117Asp) n.3413A>G c.3692A>G (p.Lys1231Arg) c.*1533A>G (n.*1533A>G) c.3752A>G (p.Lys1251Arg) n.3459A>G c.3409A>G (p.Asn1137Asp) c.3820A>G (p.Asn1274Asp) c.4004A>G (p.Lys1335Arg) c.3905A>G (p.Lys1302Arg) c.4319A>G (p.Lys1440Arg) c.3976A>G (p.Asn1326Asp) | dbSNP |
16 | g.9763381T>G | CA394705936 | GRIN2A | c.4163A>C (p.Lys1388Thr) c.3349A>C (p.Asn1117His) n.3413A>C c.3692A>C (p.Lys1231Thr) c.*1533A>C (n.*1533A>C) c.3752A>C (p.Lys1251Thr) n.3459A>C c.3409A>C (p.Asn1137His) c.3820A>C (p.Asn1274His) c.4004A>C (p.Lys1335Thr) c.3905A>C (p.Lys1302Thr) c.4319A>C (p.Lys1440Thr) c.3976A>C (p.Asn1326His) | dbSNP |
16 | g.9763382T>A | CA394705939 | GRIN2A | c.4162A>T (p.Lys1388Ter) c.3348A>T (p.Thr1116=) n.3412A>T c.3691A>T (p.Lys1231Ter) c.*1532A>T (n.*1532A>T) c.3751A>T (p.Lys1251Ter) n.3458A>T c.3408A>T (p.Thr1136=) c.3819A>T (p.Thr1273=) c.4003A>T (p.Lys1335Ter) c.3904A>T (p.Lys1302Ter) c.4318A>T (p.Lys1440Ter) c.3975A>T (p.Thr1325=) | dbSNP |
16 | g.9763382T>C | CA394705941 | GRIN2A | c.4162A>G (p.Lys1388Glu) c.3348A>G (p.Thr1116=) n.3412A>G c.3691A>G (p.Lys1231Glu) c.*1532A>G (n.*1532A>G) c.3751A>G (p.Lys1251Glu) n.3458A>G c.3408A>G (p.Thr1136=) c.3819A>G (p.Thr1273=) c.4003A>G (p.Lys1335Glu) c.3904A>G (p.Lys1302Glu) c.4318A>G (p.Lys1440Glu) c.3975A>G (p.Thr1325=) | dbSNP gnomAD v4 |
16 | g.9763382T>G | CA394705940 | GRIN2A | c.4162A>C (p.Lys1388Gln) c.3348A>C (p.Thr1116=) n.3412A>C c.3691A>C (p.Lys1231Gln) c.*1532A>C (n.*1532A>C) c.3751A>C (p.Lys1251Gln) n.3458A>C c.3408A>C (p.Thr1136=) c.3819A>C (p.Thr1273=) c.4003A>C (p.Lys1335Gln) c.3904A>C (p.Lys1302Gln) c.4318A>C (p.Lys1440Gln) c.3975A>C (p.Thr1325=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763382T= | CA2206692693 | GRIN2A | c.4162A= (p.Lys1388=) c.3348A= (p.Thr1116=) n.3412A= c.3691A= (p.Lys1231=) c.*1532A= (n.*1532A=) c.3751A= (p.Lys1251=) n.3458A= c.3408A= (p.Thr1136=) c.3819A= (p.Thr1273=) c.4003A= (p.Lys1335=) c.3904A= (p.Lys1302=) c.4318A= (p.Lys1440=) c.3975A= (p.Thr1325=) | |
16 | g.9763383G>A | CA394705942 | GRIN2A | c.4161C>T (p.Tyr1387=) c.3347C>T (p.Thr1116Ile) n.3411C>T c.3690C>T (p.Tyr1230=) c.*1531C>T (n.*1531C>T) c.3750C>T (p.Tyr1250=) n.3457C>T c.3407C>T (p.Thr1136Ile) c.3818C>T (p.Thr1273Ile) c.4002C>T (p.Tyr1334=) c.3903C>T (p.Tyr1301=) c.4317C>T (p.Tyr1439=) c.3974C>T (p.Thr1325Ile) | dbSNP |
16 | g.9763383G>C | CA394705944 | GRIN2A | c.4161C>G (p.Tyr1387Ter) c.3347C>G (p.Thr1116Arg) n.3411C>G c.3690C>G (p.Tyr1230Ter) c.*1531C>G (n.*1531C>G) c.3750C>G (p.Tyr1250Ter) n.3457C>G c.3407C>G (p.Thr1136Arg) c.3818C>G (p.Thr1273Arg) c.4002C>G (p.Tyr1334Ter) c.3903C>G (p.Tyr1301Ter) c.4317C>G (p.Tyr1439Ter) c.3974C>G (p.Thr1325Arg) | dbSNP |
16 | g.9763383G>T | CA394705943 | GRIN2A | c.4161C>A (p.Tyr1387Ter) c.3347C>A (p.Thr1116Lys) n.3411C>A c.3690C>A (p.Tyr1230Ter) c.*1531C>A (n.*1531C>A) c.3750C>A (p.Tyr1250Ter) n.3457C>A c.3407C>A (p.Thr1136Lys) c.3818C>A (p.Thr1273Lys) c.4002C>A (p.Tyr1334Ter) c.3903C>A (p.Tyr1301Ter) c.4317C>A (p.Tyr1439Ter) c.3974C>A (p.Thr1325Lys) | dbSNP COSMIC |
16 | g.9763384T>A | CA394705945 | GRIN2A | c.4160A>T (p.Tyr1387Phe) c.3346A>T (p.Thr1116Ser) n.3410A>T c.3689A>T (p.Tyr1230Phe) c.*1530A>T (n.*1530A>T) c.3749A>T (p.Tyr1250Phe) n.3456A>T c.3406A>T (p.Thr1136Ser) c.3817A>T (p.Thr1273Ser) c.4001A>T (p.Tyr1334Phe) c.3902A>T (p.Tyr1301Phe) c.4316A>T (p.Tyr1439Phe) c.3973A>T (p.Thr1325Ser) | |
16 | g.9763384T>C | CA394705946 | GRIN2A | c.4160A>G (p.Tyr1387Cys) c.3346A>G (p.Thr1116Ala) n.3410A>G c.3689A>G (p.Tyr1230Cys) c.*1530A>G (n.*1530A>G) c.3749A>G (p.Tyr1250Cys) n.3456A>G c.3406A>G (p.Thr1136Ala) c.3817A>G (p.Thr1273Ala) c.4001A>G (p.Tyr1334Cys) c.3902A>G (p.Tyr1301Cys) c.4316A>G (p.Tyr1439Cys) c.3973A>G (p.Thr1325Ala) | |
16 | g.9763384T>G | CA394705947 | GRIN2A | c.4160A>C (p.Tyr1387Ser) c.3346A>C (p.Thr1116Pro) n.3410A>C c.3689A>C (p.Tyr1230Ser) c.*1530A>C (n.*1530A>C) c.3749A>C (p.Tyr1250Ser) n.3456A>C c.3406A>C (p.Thr1136Pro) c.3817A>C (p.Thr1273Pro) c.4001A>C (p.Tyr1334Ser) c.3902A>C (p.Tyr1301Ser) c.4316A>C (p.Tyr1439Ser) c.3973A>C (p.Thr1325Pro) | |
16 | g.9763385A= | CA2206692694 | GRIN2A | c.4159T= (p.Tyr1387=) c.3345T= (p.Leu1115=) n.3409T= c.3688T= (p.Tyr1230=) c.*1529T= (n.*1529T=) c.3748T= (p.Tyr1250=) n.3455T= c.3405T= (p.Leu1135=) c.3816T= (p.Leu1272=) c.4000T= (p.Tyr1334=) c.3901T= (p.Tyr1301=) c.4315T= (p.Tyr1439=) c.3972T= (p.Leu1324=) | |
16 | g.9763385A>C | CA394705948 | GRIN2A | c.4159T>G (p.Tyr1387Asp) c.3345T>G (p.Leu1115=) n.3409T>G c.3688T>G (p.Tyr1230Asp) c.*1529T>G (n.*1529T>G) c.3748T>G (p.Tyr1250Asp) n.3455T>G c.3405T>G (p.Leu1135=) c.3816T>G (p.Leu1272=) c.4000T>G (p.Tyr1334Asp) c.3901T>G (p.Tyr1301Asp) c.4315T>G (p.Tyr1439Asp) c.3972T>G (p.Leu1324=) | |
16 | g.9763385A>G | CA394705949 | GRIN2A | c.4159T>C (p.Tyr1387His) c.3345T>C (p.Leu1115=) n.3409T>C c.3688T>C (p.Tyr1230His) c.*1529T>C (n.*1529T>C) c.3748T>C (p.Tyr1250His) n.3455T>C c.3405T>C (p.Leu1135=) c.3816T>C (p.Leu1272=) c.4000T>C (p.Tyr1334His) c.3901T>C (p.Tyr1301His) c.4315T>C (p.Tyr1439His) c.3972T>C (p.Leu1324=) | |
16 | g.9763385A>T | CA277536051 | GRIN2A | c.4159T>A (p.Tyr1387Asn) c.3345T>A (p.Leu1115=) n.3409T>A c.3688T>A (p.Tyr1230Asn) c.*1529T>A (n.*1529T>A) c.3748T>A (p.Tyr1250Asn) n.3455T>A c.3405T>A (p.Leu1135=) c.3816T>A (p.Leu1272=) c.4000T>A (p.Tyr1334Asn) c.3901T>A (p.Tyr1301Asn) c.4315T>A (p.Tyr1439Asn) c.3972T>A (p.Leu1324=) | dbSNP gnomAD v4 |
16 | g.9763386A>C | CA394705950 | GRIN2A | c.4158T>G (p.Pro1386=) c.3344T>G (p.Leu1115Arg) n.3408T>G c.3687T>G (p.Pro1229=) c.*1528T>G (n.*1528T>G) c.3747T>G (p.Pro1249=) n.3454T>G c.3404T>G (p.Leu1135Arg) c.3815T>G (p.Leu1272Arg) c.3999T>G (p.Pro1333=) c.3900T>G (p.Pro1300=) c.4314T>G (p.Pro1438=) c.3971T>G (p.Leu1324Arg) | |
16 | g.9763386A>G | CA394705951 | GRIN2A | c.4158T>C (p.Pro1386=) c.3344T>C (p.Leu1115Pro) n.3408T>C c.3687T>C (p.Pro1229=) c.*1528T>C (n.*1528T>C) c.3747T>C (p.Pro1249=) n.3454T>C c.3404T>C (p.Leu1135Pro) c.3815T>C (p.Leu1272Pro) c.3999T>C (p.Pro1333=) c.3900T>C (p.Pro1300=) c.4314T>C (p.Pro1438=) c.3971T>C (p.Leu1324Pro) | dbSNP |
16 | g.9763386A>T | CA394705952 | GRIN2A | c.4158T>A (p.Pro1386=) c.3344T>A (p.Leu1115His) n.3408T>A c.3687T>A (p.Pro1229=) c.*1528T>A (n.*1528T>A) c.3747T>A (p.Pro1249=) n.3454T>A c.3404T>A (p.Leu1135His) c.3815T>A (p.Leu1272His) c.3999T>A (p.Pro1333=) c.3900T>A (p.Pro1300=) c.4314T>A (p.Pro1438=) c.3971T>A (p.Leu1324His) | dbSNP |
16 | g.9763387G>A | CA394705953 | GRIN2A | c.4157C>T (p.Pro1386Leu) c.3343C>T (p.Leu1115Phe) n.3407C>T c.3686C>T (p.Pro1229Leu) c.*1527C>T (n.*1527C>T) c.3746C>T (p.Pro1249Leu) n.3453C>T c.3403C>T (p.Leu1135Phe) c.3814C>T (p.Leu1272Phe) c.3998C>T (p.Pro1333Leu) c.3899C>T (p.Pro1300Leu) c.4313C>T (p.Pro1438Leu) c.3970C>T (p.Leu1324Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.9763387G>C | CA394705954 | GRIN2A | c.4157C>G (p.Pro1386Arg) c.3343C>G (p.Leu1115Val) n.3407C>G c.3686C>G (p.Pro1229Arg) c.*1527C>G (n.*1527C>G) c.3746C>G (p.Pro1249Arg) n.3453C>G c.3403C>G (p.Leu1135Val) c.3814C>G (p.Leu1272Val) c.3998C>G (p.Pro1333Arg) c.3899C>G (p.Pro1300Arg) c.4313C>G (p.Pro1438Arg) c.3970C>G (p.Leu1324Val) | gnomAD v4 |
16 | g.9763387G= | CA2206692695 | GRIN2A | c.4157C= (p.Pro1386=) c.3343C= (p.Leu1115=) n.3407C= c.3686C= (p.Pro1229=) c.*1527C= (n.*1527C=) c.3746C= (p.Pro1249=) n.3453C= c.3403C= (p.Leu1135=) c.3814C= (p.Leu1272=) c.3998C= (p.Pro1333=) c.3899C= (p.Pro1300=) c.4313C= (p.Pro1438=) c.3970C= (p.Leu1324=) | |
16 | g.9763387G>T | CA394705955 | GRIN2A | c.4157C>A (p.Pro1386His) c.3343C>A (p.Leu1115Ile) n.3407C>A c.3686C>A (p.Pro1229His) c.*1527C>A (n.*1527C>A) c.3746C>A (p.Pro1249His) n.3453C>A c.3403C>A (p.Leu1135Ile) c.3814C>A (p.Leu1272Ile) c.3998C>A (p.Pro1333His) c.3899C>A (p.Pro1300His) c.4313C>A (p.Pro1438His) c.3970C>A (p.Leu1324Ile) | dbSNP |
16 | g.9763388G>A | CA394705956 | GRIN2A | c.4156C>T (p.Pro1386Ser) c.3342C>T (p.Thr1114=) n.3406C>T c.3685C>T (p.Pro1229Ser) c.*1526C>T (n.*1526C>T) c.3745C>T (p.Pro1249Ser) n.3452C>T c.3402C>T (p.Thr1134=) c.3813C>T (p.Thr1271=) c.3997C>T (p.Pro1333Ser) c.3898C>T (p.Pro1300Ser) c.4312C>T (p.Pro1438Ser) c.3969C>T (p.Thr1323=) | dbSNP gnomAD v4 |
16 | g.9763388G>C | CA394705958 | GRIN2A | c.4156C>G (p.Pro1386Ala) c.3342C>G (p.Thr1114=) n.3406C>G c.3685C>G (p.Pro1229Ala) c.*1526C>G (n.*1526C>G) c.3745C>G (p.Pro1249Ala) n.3452C>G c.3402C>G (p.Thr1134=) c.3813C>G (p.Thr1271=) c.3997C>G (p.Pro1333Ala) c.3898C>G (p.Pro1300Ala) c.4312C>G (p.Pro1438Ala) c.3969C>G (p.Thr1323=) | dbSNP |
16 | g.9763388G>T | CA394705957 | GRIN2A | c.4156C>A (p.Pro1386Thr) c.3342C>A (p.Thr1114=) n.3406C>A c.3685C>A (p.Pro1229Thr) c.*1526C>A (n.*1526C>A) c.3745C>A (p.Pro1249Thr) n.3452C>A c.3402C>A (p.Thr1134=) c.3813C>A (p.Thr1271=) c.3997C>A (p.Pro1333Thr) c.3898C>A (p.Pro1300Thr) c.4312C>A (p.Pro1438Thr) c.3969C>A (p.Thr1323=) | dbSNP |
16 | g.9763389G>A | CA394705959 | GRIN2A | c.4155C>T (p.Asp1385=) c.3341C>T (p.Thr1114Ile) n.3405C>T c.3684C>T (p.Asp1228=) c.*1525C>T (n.*1525C>T) c.3744C>T (p.Asp1248=) n.3451C>T c.3401C>T (p.Thr1134Ile) c.3812C>T (p.Thr1271Ile) c.3996C>T (p.Asp1332=) c.3897C>T (p.Asp1299=) c.4311C>T (p.Asp1437=) c.3968C>T (p.Thr1323Ile) | dbSNP |
16 | g.9763389G>C | CA394705960 | GRIN2A | c.4155C>G (p.Asp1385Glu) c.3341C>G (p.Thr1114Ser) n.3405C>G c.3684C>G (p.Asp1228Glu) c.*1525C>G (n.*1525C>G) c.3744C>G (p.Asp1248Glu) n.3451C>G c.3401C>G (p.Thr1134Ser) c.3812C>G (p.Thr1271Ser) c.3996C>G (p.Asp1332Glu) c.3897C>G (p.Asp1299Glu) c.4311C>G (p.Asp1437Glu) c.3968C>G (p.Thr1323Ser) | dbSNP |
16 | g.9763389G>T | CA394705961 | GRIN2A | c.4155C>A (p.Asp1385Glu) c.3341C>A (p.Thr1114Asn) n.3405C>A c.3684C>A (p.Asp1228Glu) c.*1525C>A (n.*1525C>A) c.3744C>A (p.Asp1248Glu) n.3451C>A c.3401C>A (p.Thr1134Asn) c.3812C>A (p.Thr1271Asn) c.3996C>A (p.Asp1332Glu) c.3897C>A (p.Asp1299Glu) c.4311C>A (p.Asp1437Glu) c.3968C>A (p.Thr1323Asn) | |
16 | g.9763390T>A | CA394705962 | GRIN2A | c.4154A>T (p.Asp1385Val) c.3340A>T (p.Thr1114Ser) n.3404A>T c.3683A>T (p.Asp1228Val) c.*1524A>T (n.*1524A>T) c.3743A>T (p.Asp1248Val) n.3450A>T c.3400A>T (p.Thr1134Ser) c.3811A>T (p.Thr1271Ser) c.3995A>T (p.Asp1332Val) c.3896A>T (p.Asp1299Val) c.4310A>T (p.Asp1437Val) c.3967A>T (p.Thr1323Ser) | dbSNP |
16 | g.9763390T>C | CA394705963 | GRIN2A | c.4154A>G (p.Asp1385Gly) c.3340A>G (p.Thr1114Ala) n.3404A>G c.3683A>G (p.Asp1228Gly) c.*1524A>G (n.*1524A>G) c.3743A>G (p.Asp1248Gly) n.3450A>G c.3400A>G (p.Thr1134Ala) c.3811A>G (p.Thr1271Ala) c.3995A>G (p.Asp1332Gly) c.3896A>G (p.Asp1299Gly) c.4310A>G (p.Asp1437Gly) c.3967A>G (p.Thr1323Ala) | dbSNP gnomAD v4 |
16 | g.9763390T>G | CA394705964 | GRIN2A | c.4154A>C (p.Asp1385Ala) c.3340A>C (p.Thr1114Pro) n.3404A>C c.3683A>C (p.Asp1228Ala) c.*1524A>C (n.*1524A>C) c.3743A>C (p.Asp1248Ala) n.3450A>C c.3400A>C (p.Thr1134Pro) c.3811A>C (p.Thr1271Pro) c.3995A>C (p.Asp1332Ala) c.3896A>C (p.Asp1299Ala) c.4310A>C (p.Asp1437Ala) c.3967A>C (p.Thr1323Pro) | dbSNP |
16 | g.9763391C>A | CA394705965 | GRIN2A | c.4153G>T (p.Asp1385Tyr) c.3339G>T (p.Arg1113=) n.3403G>T c.3682G>T (p.Asp1228Tyr) c.*1523G>T (n.*1523G>T) c.3742G>T (p.Asp1248Tyr) n.3449G>T c.3399G>T (p.Arg1133=) c.3810G>T (p.Arg1270=) c.3994G>T (p.Asp1332Tyr) c.3895G>T (p.Asp1299Tyr) c.4309G>T (p.Asp1437Tyr) c.3966G>T (p.Arg1322=) | dbSNP |
16 | g.9763391C= | CA2206692696 | GRIN2A | c.4153G= (p.Asp1385=) c.3339G= (p.Arg1113=) n.3403G= c.3682G= (p.Asp1228=) c.*1523G= (n.*1523G=) c.3742G= (p.Asp1248=) n.3449G= c.3399G= (p.Arg1133=) c.3810G= (p.Arg1270=) c.3994G= (p.Asp1332=) c.3895G= (p.Asp1299=) c.4309G= (p.Asp1437=) c.3966G= (p.Arg1322=) | |
16 | g.9763391C>G | CA394705966 | GRIN2A | c.4153G>C (p.Asp1385His) c.3339G>C (p.Arg1113=) n.3403G>C c.3682G>C (p.Asp1228His) c.*1523G>C (n.*1523G>C) c.3742G>C (p.Asp1248His) n.3449G>C c.3399G>C (p.Arg1133=) c.3810G>C (p.Arg1270=) c.3994G>C (p.Asp1332His) c.3895G>C (p.Asp1299His) c.4309G>C (p.Asp1437His) c.3966G>C (p.Arg1322=) | dbSNP |
16 | g.9763391C>T | CA394705967 | GRIN2A | c.4153G>A (p.Asp1385Asn) c.3339G>A (p.Arg1113=) n.3403G>A c.3682G>A (p.Asp1228Asn) c.*1523G>A (n.*1523G>A) c.3742G>A (p.Asp1248Asn) n.3449G>A c.3399G>A (p.Arg1133=) c.3810G>A (p.Arg1270=) c.3994G>A (p.Asp1332Asn) c.3895G>A (p.Asp1299Asn) c.4309G>A (p.Asp1437Asn) c.3966G>A (p.Arg1322=) | ClinVar dbSNP |
16 | g.9763392C>A | CA394705969 | GRIN2A | c.4152G>T (p.Ser1384=) c.3338G>T (p.Arg1113Leu) n.3402G>T c.3681G>T (p.Ser1227=) c.*1522G>T (n.*1522G>T) c.3741G>T (p.Ser1247=) n.3448G>T c.3398G>T (p.Arg1133Leu) c.3809G>T (p.Arg1270Leu) c.3993G>T (p.Ser1331=) c.3894G>T (p.Ser1298=) c.4308G>T (p.Ser1436=) c.3965G>T (p.Arg1322Leu) | |
16 | g.9763392C= | CA2206692697 | GRIN2A | c.4152G= (p.Ser1384=) c.3338G= (p.Arg1113=) n.3402G= c.3681G= (p.Ser1227=) c.*1522G= (n.*1522G=) c.3741G= (p.Ser1247=) n.3448G= c.3398G= (p.Arg1133=) c.3809G= (p.Arg1270=) c.3993G= (p.Ser1331=) c.3894G= (p.Ser1298=) c.4308G= (p.Ser1436=) c.3965G= (p.Arg1322=) | |
16 | g.9763392C>G | CA394705968 | GRIN2A | c.4152G>C (p.Ser1384=) c.3338G>C (p.Arg1113Pro) n.3402G>C c.3681G>C (p.Ser1227=) c.*1522G>C (n.*1522G>C) c.3741G>C (p.Ser1247=) n.3448G>C c.3398G>C (p.Arg1133Pro) c.3809G>C (p.Arg1270Pro) c.3993G>C (p.Ser1331=) c.3894G>C (p.Ser1298=) c.4308G>C (p.Ser1436=) c.3965G>C (p.Arg1322Pro) | dbSNP |
16 | g.9763392C>T | CA7896205 | GRIN2A | c.4152G>A (p.Ser1384=) c.3338G>A (p.Arg1113Gln) n.3402G>A c.3681G>A (p.Ser1227=) c.*1522G>A (n.*1522G>A) c.3741G>A (p.Ser1247=) n.3448G>A c.3398G>A (p.Arg1133Gln) c.3809G>A (p.Arg1270Gln) c.3993G>A (p.Ser1331=) c.3894G>A (p.Ser1298=) c.4308G>A (p.Ser1436=) c.3965G>A (p.Arg1322Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.9763393G>A | CA277536075 | GRIN2A | c.4151C>T (p.Ser1384Leu) c.3337C>T (p.Arg1113Trp) n.3401C>T c.3680C>T (p.Ser1227Leu) c.*1521C>T (n.*1521C>T) c.3740C>T (p.Ser1247Leu) n.3447C>T c.3397C>T (p.Arg1133Trp) c.3808C>T (p.Arg1270Trp) c.3992C>T (p.Ser1331Leu) c.3893C>T (p.Ser1298Leu) c.4307C>T (p.Ser1436Leu) c.3964C>T (p.Arg1322Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9763393G>C | CA394705970 | GRIN2A | c.4151C>G (p.Ser1384Trp) c.3337C>G (p.Arg1113Gly) n.3401C>G c.3680C>G (p.Ser1227Trp) c.*1521C>G (n.*1521C>G) c.3740C>G (p.Ser1247Trp) n.3447C>G c.3397C>G (p.Arg1133Gly) c.3808C>G (p.Arg1270Gly) c.3992C>G (p.Ser1331Trp) c.3893C>G (p.Ser1298Trp) c.4307C>G (p.Ser1436Trp) c.3964C>G (p.Arg1322Gly) | dbSNP |
16 | g.9763393G= | CA2206692698 | GRIN2A | c.4151C= (p.Ser1384=) c.3337C= (p.Arg1113=) n.3401C= c.3680C= (p.Ser1227=) c.*1521C= (n.*1521C=) c.3740C= (p.Ser1247=) n.3447C= c.3397C= (p.Arg1133=) c.3808C= (p.Arg1270=) c.3992C= (p.Ser1331=) c.3893C= (p.Ser1298=) c.4307C= (p.Ser1436=) c.3964C= (p.Arg1322=) | |
16 | g.9763393G>T | CA394705971 | GRIN2A | c.4151C>A (p.Ser1384Ter) c.3337C>A (p.Arg1113=) n.3401C>A c.3680C>A (p.Ser1227Ter) c.*1521C>A (n.*1521C>A) c.3740C>A (p.Ser1247Ter) n.3447C>A c.3397C>A (p.Arg1133=) c.3808C>A (p.Arg1270=) c.3992C>A (p.Ser1331Ter) c.3893C>A (p.Ser1298Ter) c.4307C>A (p.Ser1436Ter) c.3964C>A (p.Arg1322=) | dbSNP |
16 | g.9763394A>C | CA394705972 | GRIN2A | c.4150T>G (p.Ser1384Ala) c.3336T>G (p.Pro1112=) n.3400T>G c.3679T>G (p.Ser1227Ala) c.*1520T>G (n.*1520T>G) c.3739T>G (p.Ser1247Ala) n.3446T>G c.3396T>G (p.Pro1132=) c.3807T>G (p.Pro1269=) c.3991T>G (p.Ser1331Ala) c.3892T>G (p.Ser1298Ala) c.4306T>G (p.Ser1436Ala) c.3963T>G (p.Pro1321=) | |
16 | g.9763394A>G | CA394705973 | GRIN2A | c.4150T>C (p.Ser1384Pro) c.3336T>C (p.Pro1112=) n.3400T>C c.3679T>C (p.Ser1227Pro) c.*1520T>C (n.*1520T>C) c.3739T>C (p.Ser1247Pro) n.3446T>C c.3396T>C (p.Pro1132=) c.3807T>C (p.Pro1269=) c.3991T>C (p.Ser1331Pro) c.3892T>C (p.Ser1298Pro) c.4306T>C (p.Ser1436Pro) c.3963T>C (p.Pro1321=) | gnomAD v4 |
16 | g.9763394A>T | CA394705974 | GRIN2A | c.4150T>A (p.Ser1384Thr) c.3336T>A (p.Pro1112=) n.3400T>A c.3679T>A (p.Ser1227Thr) c.*1520T>A (n.*1520T>A) c.3739T>A (p.Ser1247Thr) n.3446T>A c.3396T>A (p.Pro1132=) c.3807T>A (p.Pro1269=) c.3991T>A (p.Ser1331Thr) c.3892T>A (p.Ser1298Thr) c.4306T>A (p.Ser1436Thr) c.3963T>A (p.Pro1321=) | dbSNP |
16 | g.9763395G>A | CA394705975 | GRIN2A | c.4149C>T (p.Pro1383=) c.3335C>T (p.Pro1112Leu) n.3399C>T c.3678C>T (p.Pro1226=) c.*1519C>T (n.*1519C>T) c.3738C>T (p.Pro1246=) n.3445C>T c.3395C>T (p.Pro1132Leu) c.3806C>T (p.Pro1269Leu) c.3990C>T (p.Pro1330=) c.3891C>T (p.Pro1297=) c.4305C>T (p.Pro1435=) c.3962C>T (p.Pro1321Leu) | dbSNP |
16 | g.9763395G>C | CA394705976 | GRIN2A | c.4149C>G (p.Pro1383=) c.3335C>G (p.Pro1112Arg) n.3399C>G c.3678C>G (p.Pro1226=) c.*1519C>G (n.*1519C>G) c.3738C>G (p.Pro1246=) n.3445C>G c.3395C>G (p.Pro1132Arg) c.3806C>G (p.Pro1269Arg) c.3990C>G (p.Pro1330=) c.3891C>G (p.Pro1297=) c.4305C>G (p.Pro1435=) c.3962C>G (p.Pro1321Arg) | |
16 | g.9763395G>T | CA394705977 | GRIN2A | c.4149C>A (p.Pro1383=) c.3335C>A (p.Pro1112His) n.3399C>A c.3678C>A (p.Pro1226=) c.*1519C>A (n.*1519C>A) c.3738C>A (p.Pro1246=) n.3445C>A c.3395C>A (p.Pro1132His) c.3806C>A (p.Pro1269His) c.3990C>A (p.Pro1330=) c.3891C>A (p.Pro1297=) c.4305C>A (p.Pro1435=) c.3962C>A (p.Pro1321His) | dbSNP |
16 | g.9763396G>A | CA394705978 | GRIN2A | c.4148C>T (p.Pro1383Leu) c.3334C>T (p.Pro1112Ser) n.3398C>T c.3677C>T (p.Pro1226Leu) c.*1518C>T (n.*1518C>T) c.3737C>T (p.Pro1246Leu) n.3444C>T c.3394C>T (p.Pro1132Ser) c.3805C>T (p.Pro1269Ser) c.3989C>T (p.Pro1330Leu) c.3890C>T (p.Pro1297Leu) c.4304C>T (p.Pro1435Leu) c.3961C>T (p.Pro1321Ser) | dbSNP |
16 | g.9763396G>C | CA394705979 | GRIN2A | c.4148C>G (p.Pro1383Arg) c.3334C>G (p.Pro1112Ala) n.3398C>G c.3677C>G (p.Pro1226Arg) c.*1518C>G (n.*1518C>G) c.3737C>G (p.Pro1246Arg) n.3444C>G c.3394C>G (p.Pro1132Ala) c.3805C>G (p.Pro1269Ala) c.3989C>G (p.Pro1330Arg) c.3890C>G (p.Pro1297Arg) c.4304C>G (p.Pro1435Arg) c.3961C>G (p.Pro1321Ala) | |
16 | g.9763396G>T | CA394705980 | GRIN2A | c.4148C>A (p.Pro1383His) c.3334C>A (p.Pro1112Thr) n.3398C>A c.3677C>A (p.Pro1226His) c.*1518C>A (n.*1518C>A) c.3737C>A (p.Pro1246His) n.3444C>A c.3394C>A (p.Pro1132Thr) c.3805C>A (p.Pro1269Thr) c.3989C>A (p.Pro1330His) c.3890C>A (p.Pro1297His) c.4304C>A (p.Pro1435His) c.3961C>A (p.Pro1321Thr) | dbSNP |
16 | g.9763397G>A | CA277536082 | GRIN2A | c.4147C>T (p.Pro1383Ser) c.3333C>T (p.Ala1111=) n.3397C>T c.3676C>T (p.Pro1226Ser) c.*1517C>T (n.*1517C>T) c.3736C>T (p.Pro1246Ser) n.3443C>T c.3393C>T (p.Ala1131=) c.3804C>T (p.Ala1268=) c.3988C>T (p.Pro1330Ser) c.3889C>T (p.Pro1297Ser) c.4303C>T (p.Pro1435Ser) c.3960C>T (p.Ala1320=) | dbSNP |
16 | g.9763397G>C | CA394705981 | GRIN2A | c.4147C>G (p.Pro1383Ala) c.3333C>G (p.Ala1111=) n.3397C>G c.3676C>G (p.Pro1226Ala) c.*1517C>G (n.*1517C>G) c.3736C>G (p.Pro1246Ala) n.3443C>G c.3393C>G (p.Ala1131=) c.3804C>G (p.Ala1268=) c.3988C>G (p.Pro1330Ala) c.3889C>G (p.Pro1297Ala) c.4303C>G (p.Pro1435Ala) c.3960C>G (p.Ala1320=) | dbSNP |
16 | g.9763397G= | CA2206692699 | GRIN2A | c.4147C= (p.Pro1383=) c.3333C= (p.Ala1111=) n.3397C= c.3676C= (p.Pro1226=) c.*1517C= (n.*1517C=) c.3736C= (p.Pro1246=) n.3443C= c.3393C= (p.Ala1131=) c.3804C= (p.Ala1268=) c.3988C= (p.Pro1330=) c.3889C= (p.Pro1297=) c.4303C= (p.Pro1435=) c.3960C= (p.Ala1320=) | |
16 | g.9763397G>T | CA394705982 | GRIN2A | c.4147C>A (p.Pro1383Thr) c.3333C>A (p.Ala1111=) n.3397C>A c.3676C>A (p.Pro1226Thr) c.*1517C>A (n.*1517C>A) c.3736C>A (p.Pro1246Thr) n.3443C>A c.3393C>A (p.Ala1131=) c.3804C>A (p.Ala1268=) c.3988C>A (p.Pro1330Thr) c.3889C>A (p.Pro1297Thr) c.4303C>A (p.Pro1435Thr) c.3960C>A (p.Ala1320=) | dbSNP |
16 | g.9763398G>A | CA394705983 | GRIN2A | c.4146C>T (p.Cys1382=) c.3332C>T (p.Ala1111Val) n.3396C>T c.3675C>T (p.Cys1225=) c.*1516C>T (n.*1516C>T) c.3735C>T (p.Cys1245=) n.3442C>T c.3392C>T (p.Ala1131Val) c.3803C>T (p.Ala1268Val) c.3987C>T (p.Cys1329=) c.3888C>T (p.Cys1296=) c.4302C>T (p.Cys1434=) c.3959C>T (p.Ala1320Val) | dbSNP gnomAD v4 |
16 | g.9763398G>C | CA394705984 | GRIN2A | c.4146C>G (p.Cys1382Trp) c.3332C>G (p.Ala1111Gly) n.3396C>G c.3675C>G (p.Cys1225Trp) c.*1516C>G (n.*1516C>G) c.3735C>G (p.Cys1245Trp) n.3442C>G c.3392C>G (p.Ala1131Gly) c.3803C>G (p.Ala1268Gly) c.3987C>G (p.Cys1329Trp) c.3888C>G (p.Cys1296Trp) c.4302C>G (p.Cys1434Trp) c.3959C>G (p.Ala1320Gly) | dbSNP |
16 | g.9763398G= | CA2206692700 | GRIN2A | c.4146C= (p.Cys1382=) c.3332C= (p.Ala1111=) n.3396C= c.3675C= (p.Cys1225=) c.*1516C= (n.*1516C=) c.3735C= (p.Cys1245=) n.3442C= c.3392C= (p.Ala1131=) c.3803C= (p.Ala1268=) c.3987C= (p.Cys1329=) c.3888C= (p.Cys1296=) c.4302C= (p.Cys1434=) c.3959C= (p.Ala1320=) | |
16 | g.9763398G>T | CA394705985 | GRIN2A | c.4146C>A (p.Cys1382Ter) c.3332C>A (p.Ala1111Asp) n.3396C>A c.3675C>A (p.Cys1225Ter) c.*1516C>A (n.*1516C>A) c.3735C>A (p.Cys1245Ter) n.3442C>A c.3392C>A (p.Ala1131Asp) c.3803C>A (p.Ala1268Asp) c.3987C>A (p.Cys1329Ter) c.3888C>A (p.Cys1296Ter) c.4302C>A (p.Cys1434Ter) c.3959C>A (p.Ala1320Asp) | dbSNP |
16 | g.9763399C>A | CA394705986 | GRIN2A | c.4145G>T (p.Cys1382Phe) c.3331G>T (p.Ala1111Ser) n.3395G>T c.3674G>T (p.Cys1225Phe) c.*1515G>T (n.*1515G>T) c.3734G>T (p.Cys1245Phe) n.3441G>T c.3391G>T (p.Ala1131Ser) c.3802G>T (p.Ala1268Ser) c.3986G>T (p.Cys1329Phe) c.3887G>T (p.Cys1296Phe) c.4301G>T (p.Cys1434Phe) c.3958G>T (p.Ala1320Ser) | dbSNP |
16 | g.9763399C= | CA2206692701 | GRIN2A | c.4145G= (p.Cys1382=) c.3331G= (p.Ala1111=) n.3395G= c.3674G= (p.Cys1225=) c.*1515G= (n.*1515G=) c.3734G= (p.Cys1245=) n.3441G= c.3391G= (p.Ala1131=) c.3802G= (p.Ala1268=) c.3986G= (p.Cys1329=) c.3887G= (p.Cys1296=) c.4301G= (p.Cys1434=) c.3958G= (p.Ala1320=) | |
16 | g.9763399C>G | CA394705987 | GRIN2A | c.4145G>C (p.Cys1382Ser) c.3331G>C (p.Ala1111Pro) n.3395G>C c.3674G>C (p.Cys1225Ser) c.*1515G>C (n.*1515G>C) c.3734G>C (p.Cys1245Ser) n.3441G>C c.3391G>C (p.Ala1131Pro) c.3802G>C (p.Ala1268Pro) c.3986G>C (p.Cys1329Ser) c.3887G>C (p.Cys1296Ser) c.4301G>C (p.Cys1434Ser) c.3958G>C (p.Ala1320Pro) | dbSNP |
16 | g.9763399C>T | CA7896206 | GRIN2A | c.4145G>A (p.Cys1382Tyr) c.3331G>A (p.Ala1111Thr) n.3395G>A c.3674G>A (p.Cys1225Tyr) c.*1515G>A (n.*1515G>A) c.3734G>A (p.Cys1245Tyr) n.3441G>A c.3391G>A (p.Ala1131Thr) c.3802G>A (p.Ala1268Thr) c.3986G>A (p.Cys1329Tyr) c.3887G>A (p.Cys1296Tyr) c.4301G>A (p.Cys1434Tyr) c.3958G>A (p.Ala1320Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763399_9763400insCACAATGATGTGT | CA2503937831 | GRIN2A | c.4144_4145insACACATCATTGTG (p.Cys1382TyrfsTer21) c.3330_3331insACACATCATTGTG (p.Ala1111ThrfsTer?) n.3394_3395insACACATCATTGTG c.3673_3674insACACATCATTGTG (p.Cys1225TyrfsTer21) c.*1514_*1515insACACATCATTGTG (n.*1514_*1515insACACATCATTGTG) c.3733_3734insACACATCATTGTG (p.Cys1245TyrfsTer21) n.3440_3441insACACATCATTGTG c.3390_3391insACACATCATTGTG (p.Ala1131ThrfsTer?) c.3801_3802insACACATCATTGTG (p.Ala1268ThrfsTer?) c.3985_3986insACACATCATTGTG (p.Cys1329TyrfsTer21) c.3886_3887insACACATCATTGTG (p.Cys1296TyrfsTer21) c.4300_4301insACACATCATTGTG (p.Cys1434TyrfsTer21) c.3957_3958insACACATCATTGTG (p.Ala1320ThrfsTer?) | |
16 | g.9763400A= | CA2206692702 | GRIN2A | c.4144T= (p.Cys1382=) c.3330T= (p.Asp1110=) n.3394T= c.3673T= (p.Cys1225=) c.*1514T= (n.*1514T=) c.3733T= (p.Cys1245=) n.3440T= c.3390T= (p.Asp1130=) c.3801T= (p.Asp1267=) c.3985T= (p.Cys1329=) c.3886T= (p.Cys1296=) c.4300T= (p.Cys1434=) c.3957T= (p.Asp1319=) | |
16 | g.9763400A>C | CA394705988 | GRIN2A | c.4144T>G (p.Cys1382Gly) c.3330T>G (p.Asp1110Glu) n.3394T>G c.3673T>G (p.Cys1225Gly) c.*1514T>G (n.*1514T>G) c.3733T>G (p.Cys1245Gly) n.3440T>G c.3390T>G (p.Asp1130Glu) c.3801T>G (p.Asp1267Glu) c.3985T>G (p.Cys1329Gly) c.3886T>G (p.Cys1296Gly) c.4300T>G (p.Cys1434Gly) c.3957T>G (p.Asp1319Glu) | dbSNP |
16 | g.9763400A>G | CA7896207 | GRIN2A | c.4144T>C (p.Cys1382Arg) c.3330T>C (p.Asp1110=) n.3394T>C c.3673T>C (p.Cys1225Arg) c.*1514T>C (n.*1514T>C) c.3733T>C (p.Cys1245Arg) n.3440T>C c.3390T>C (p.Asp1130=) c.3801T>C (p.Asp1267=) c.3985T>C (p.Cys1329Arg) c.3886T>C (p.Cys1296Arg) c.4300T>C (p.Cys1434Arg) c.3957T>C (p.Asp1319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763400A>T | CA394705989 | GRIN2A | c.4144T>A (p.Cys1382Ser) c.3330T>A (p.Asp1110Glu) n.3394T>A c.3673T>A (p.Cys1225Ser) c.*1514T>A (n.*1514T>A) c.3733T>A (p.Cys1245Ser) n.3440T>A c.3390T>A (p.Asp1130Glu) c.3801T>A (p.Asp1267Glu) c.3985T>A (p.Cys1329Ser) c.3886T>A (p.Cys1296Ser) c.4300T>A (p.Cys1434Ser) c.3957T>A (p.Asp1319Glu) | dbSNP |
16 | g.9763401T>A | CA394705990 | GRIN2A | c.4143A>T (p.Arg1381Ser) c.3329A>T (p.Asp1110Val) n.3393A>T c.3672A>T (p.Arg1224Ser) c.*1513A>T (n.*1513A>T) c.3732A>T (p.Arg1244Ser) n.3439A>T c.3389A>T (p.Asp1130Val) c.3800A>T (p.Asp1267Val) c.3984A>T (p.Arg1328Ser) c.3885A>T (p.Arg1295Ser) c.4299A>T (p.Arg1433Ser) c.3956A>T (p.Asp1319Val) | dbSNP |
16 | g.9763401T>C | CA394705991 | GRIN2A | c.4143A>G (p.Arg1381=) c.3329A>G (p.Asp1110Gly) n.3393A>G c.3672A>G (p.Arg1224=) c.*1513A>G (n.*1513A>G) c.3732A>G (p.Arg1244=) n.3439A>G c.3389A>G (p.Asp1130Gly) c.3800A>G (p.Asp1267Gly) c.3984A>G (p.Arg1328=) c.3885A>G (p.Arg1295=) c.4299A>G (p.Arg1433=) c.3956A>G (p.Asp1319Gly) | dbSNP |
16 | g.9763401T>G | CA394705992 | GRIN2A | c.4143A>C (p.Arg1381Ser) c.3329A>C (p.Asp1110Ala) n.3393A>C c.3672A>C (p.Arg1224Ser) c.*1513A>C (n.*1513A>C) c.3732A>C (p.Arg1244Ser) n.3439A>C c.3389A>C (p.Asp1130Ala) c.3800A>C (p.Asp1267Ala) c.3984A>C (p.Arg1328Ser) c.3885A>C (p.Arg1295Ser) c.4299A>C (p.Arg1433Ser) c.3956A>C (p.Asp1319Ala) | |
16 | g.9763402C>A | CA394705994 | GRIN2A | c.4142G>T (p.Arg1381Ile) c.3328G>T (p.Asp1110Tyr) n.3392G>T c.3671G>T (p.Arg1224Ile) c.*1512G>T (n.*1512G>T) c.3731G>T (p.Arg1244Ile) n.3438G>T c.3388G>T (p.Asp1130Tyr) c.3799G>T (p.Asp1267Tyr) c.3983G>T (p.Arg1328Ile) c.3884G>T (p.Arg1295Ile) c.4298G>T (p.Arg1433Ile) c.3955G>T (p.Asp1319Tyr) | |
16 | g.9763402C>G | CA394705995 | GRIN2A | c.4142G>C (p.Arg1381Thr) c.3328G>C (p.Asp1110His) n.3392G>C c.3671G>C (p.Arg1224Thr) c.*1512G>C (n.*1512G>C) c.3731G>C (p.Arg1244Thr) n.3438G>C c.3388G>C (p.Asp1130His) c.3799G>C (p.Asp1267His) c.3983G>C (p.Arg1328Thr) c.3884G>C (p.Arg1295Thr) c.4298G>C (p.Arg1433Thr) c.3955G>C (p.Asp1319His) | dbSNP gnomAD v4 |
16 | g.9763402C>T | CA394705993 | GRIN2A | c.4142G>A (p.Arg1381Lys) c.3328G>A (p.Asp1110Asn) n.3392G>A c.3671G>A (p.Arg1224Lys) c.*1512G>A (n.*1512G>A) c.3731G>A (p.Arg1244Lys) n.3438G>A c.3388G>A (p.Asp1130Asn) c.3799G>A (p.Asp1267Asn) c.3983G>A (p.Arg1328Lys) c.3884G>A (p.Arg1295Lys) c.4298G>A (p.Arg1433Lys) c.3955G>A (p.Asp1319Asn) | dbSNP |
16 | g.9763403T>A | CA394705997 | GRIN2A | c.4141A>T (p.Arg1381Ter) c.3327A>T (p.Gly1109=) n.3391A>T c.3670A>T (p.Arg1224Ter) c.*1511A>T (n.*1511A>T) c.3730A>T (p.Arg1244Ter) n.3437A>T c.3387A>T (p.Gly1129=) c.3798A>T (p.Gly1266=) c.3982A>T (p.Arg1328Ter) c.3883A>T (p.Arg1295Ter) c.4297A>T (p.Arg1433Ter) c.3954A>T (p.Gly1318=) | dbSNP |
16 | g.9763403T>C | CA394705996 | GRIN2A | c.4141A>G (p.Arg1381Gly) c.3327A>G (p.Gly1109=) n.3391A>G c.3670A>G (p.Arg1224Gly) c.*1511A>G (n.*1511A>G) c.3730A>G (p.Arg1244Gly) n.3437A>G c.3387A>G (p.Gly1129=) c.3798A>G (p.Gly1266=) c.3982A>G (p.Arg1328Gly) c.3883A>G (p.Arg1295Gly) c.4297A>G (p.Arg1433Gly) c.3954A>G (p.Gly1318=) | dbSNP |
16 | g.9763403T>G | CA493692573 | GRIN2A | c.4141A>C (p.Arg1381=) c.3327A>C (p.Gly1109=) n.3391A>C c.3670A>C (p.Arg1224=) c.*1511A>C (n.*1511A>C) c.3730A>C (p.Arg1244=) n.3437A>C c.3387A>C (p.Gly1129=) c.3798A>C (p.Gly1266=) c.3982A>C (p.Arg1328=) c.3883A>C (p.Arg1295=) c.4297A>C (p.Arg1433=) c.3954A>C (p.Gly1318=) | |
16 | g.9763404C>A | CA394705998 | GRIN2A | c.4140G>T (p.Gly1380=) c.3326G>T (p.Gly1109Val) n.3390G>T c.3669G>T (p.Gly1223=) c.*1510G>T (n.*1510G>T) c.3729G>T (p.Gly1243=) n.3436G>T c.3386G>T (p.Gly1129Val) c.3797G>T (p.Gly1266Val) c.3981G>T (p.Gly1327=) c.3882G>T (p.Gly1294=) c.4296G>T (p.Gly1432=) c.3953G>T (p.Gly1318Val) | |
16 | g.9763404C= | CA2206692703 | GRIN2A | c.4140G= (p.Gly1380=) c.3326G= (p.Gly1109=) n.3390G= c.3669G= (p.Gly1223=) c.*1510G= (n.*1510G=) c.3729G= (p.Gly1243=) n.3436G= c.3386G= (p.Gly1129=) c.3797G= (p.Gly1266=) c.3981G= (p.Gly1327=) c.3882G= (p.Gly1294=) c.4296G= (p.Gly1432=) c.3953G= (p.Gly1318=) | |
16 | g.9763404C>G | CA16615488 | GRIN2A | c.4140G>C (p.Gly1380=) c.3326G>C (p.Gly1109Ala) n.3390G>C c.3669G>C (p.Gly1223=) c.*1510G>C (n.*1510G>C) c.3729G>C (p.Gly1243=) n.3436G>C c.3386G>C (p.Gly1129Ala) c.3797G>C (p.Gly1266Ala) c.3981G>C (p.Gly1327=) c.3882G>C (p.Gly1294=) c.4296G>C (p.Gly1432=) c.3953G>C (p.Gly1318Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.9763404C>T | CA7896208 | GRIN2A | c.4140G>A (p.Gly1380=) c.3326G>A (p.Gly1109Glu) n.3390G>A c.3669G>A (p.Gly1223=) c.*1510G>A (n.*1510G>A) c.3729G>A (p.Gly1243=) n.3436G>A c.3386G>A (p.Gly1129Glu) c.3797G>A (p.Gly1266Glu) c.3981G>A (p.Gly1327=) c.3882G>A (p.Gly1294=) c.4296G>A (p.Gly1432=) c.3953G>A (p.Gly1318Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763405C>A | CA394705999 | GRIN2A | c.4139G>T (p.Gly1380Val) c.3325G>T (p.Gly1109Ter) n.3389G>T c.3668G>T (p.Gly1223Val) c.*1509G>T (n.*1509G>T) c.3728G>T (p.Gly1243Val) n.3435G>T c.3385G>T (p.Gly1129Ter) c.3796G>T (p.Gly1266Ter) c.3980G>T (p.Gly1327Val) c.3881G>T (p.Gly1294Val) c.4295G>T (p.Gly1432Val) c.3952G>T (p.Gly1318Ter) | dbSNP |
16 | g.9763405C>G | CA394706000 | GRIN2A | c.4139G>C (p.Gly1380Ala) c.3325G>C (p.Gly1109Arg) n.3389G>C c.3668G>C (p.Gly1223Ala) c.*1509G>C (n.*1509G>C) c.3728G>C (p.Gly1243Ala) n.3435G>C c.3385G>C (p.Gly1129Arg) c.3796G>C (p.Gly1266Arg) c.3980G>C (p.Gly1327Ala) c.3881G>C (p.Gly1294Ala) c.4295G>C (p.Gly1432Ala) c.3952G>C (p.Gly1318Arg) | dbSNP |
16 | g.9763405C>T | CA394706001 | GRIN2A | c.4139G>A (p.Gly1380Glu) c.3325G>A (p.Gly1109Arg) n.3389G>A c.3668G>A (p.Gly1223Glu) c.*1509G>A (n.*1509G>A) c.3728G>A (p.Gly1243Glu) n.3435G>A c.3385G>A (p.Gly1129Arg) c.3796G>A (p.Gly1266Arg) c.3980G>A (p.Gly1327Glu) c.3881G>A (p.Gly1294Glu) c.4295G>A (p.Gly1432Glu) c.3952G>A (p.Gly1318Arg) | dbSNP |
16 | g.9763406C>A | CA394706002 | GRIN2A | c.4138G>T (p.Gly1380Trp) c.3324G>T (p.Leu1108Phe) n.3388G>T c.3667G>T (p.Gly1223Trp) c.*1508G>T (n.*1508G>T) c.3727G>T (p.Gly1243Trp) n.3434G>T c.3384G>T (p.Leu1128Phe) c.3795G>T (p.Leu1265Phe) c.3979G>T (p.Gly1327Trp) c.3880G>T (p.Gly1294Trp) c.4294G>T (p.Gly1432Trp) c.3951G>T (p.Leu1317Phe) | |
16 | g.9763406C= | CA2206692704 | GRIN2A | c.4138G= (p.Gly1380=) c.3324G= (p.Leu1108=) n.3388G= c.3667G= (p.Gly1223=) c.*1508G= (n.*1508G=) c.3727G= (p.Gly1243=) n.3434G= c.3384G= (p.Leu1128=) c.3795G= (p.Leu1265=) c.3979G= (p.Gly1327=) c.3880G= (p.Gly1294=) c.4294G= (p.Gly1432=) c.3951G= (p.Leu1317=) | |
16 | g.9763406C>G | CA394706003 | GRIN2A | c.4138G>C (p.Gly1380Arg) c.3324G>C (p.Leu1108Phe) n.3388G>C c.3667G>C (p.Gly1223Arg) c.*1508G>C (n.*1508G>C) c.3727G>C (p.Gly1243Arg) n.3434G>C c.3384G>C (p.Leu1128Phe) c.3795G>C (p.Leu1265Phe) c.3979G>C (p.Gly1327Arg) c.3880G>C (p.Gly1294Arg) c.4294G>C (p.Gly1432Arg) c.3951G>C (p.Leu1317Phe) | |
16 | g.9763406C>T | CA277536119 | GRIN2A | c.4138G>A (p.Gly1380Arg) c.3324G>A (p.Leu1108=) n.3388G>A c.3667G>A (p.Gly1223Arg) c.*1508G>A (n.*1508G>A) c.3727G>A (p.Gly1243Arg) n.3434G>A c.3384G>A (p.Leu1128=) c.3795G>A (p.Leu1265=) c.3979G>A (p.Gly1327Arg) c.3880G>A (p.Gly1294Arg) c.4294G>A (p.Gly1432Arg) c.3951G>A (p.Leu1317=) | dbSNP |
16 | g.9763407A= | CA2206692705 | GRIN2A | c.4137T= (p.Ile1379=) c.3323T= (p.Leu1108=) n.3387T= c.3666T= (p.Ile1222=) c.*1507T= (n.*1507T=) c.3726T= (p.Ile1242=) n.3433T= c.3383T= (p.Leu1128=) c.3794T= (p.Leu1265=) c.3978T= (p.Ile1326=) c.3879T= (p.Ile1293=) c.4293T= (p.Ile1431=) c.3950T= (p.Leu1317=) | |
16 | g.9763407A>C | CA394706004 | GRIN2A | c.4137T>G (p.Ile1379Met) c.3323T>G (p.Leu1108Trp) n.3387T>G c.3666T>G (p.Ile1222Met) c.*1507T>G (n.*1507T>G) c.3726T>G (p.Ile1242Met) n.3433T>G c.3383T>G (p.Leu1128Trp) c.3794T>G (p.Leu1265Trp) c.3978T>G (p.Ile1326Met) c.3879T>G (p.Ile1293Met) c.4293T>G (p.Ile1431Met) c.3950T>G (p.Leu1317Trp) | |
16 | g.9763407A>G | CA7896209 | GRIN2A | c.4137T>C (p.Ile1379=) c.3323T>C (p.Leu1108Ser) n.3387T>C c.3666T>C (p.Ile1222=) c.*1507T>C (n.*1507T>C) c.3726T>C (p.Ile1242=) n.3433T>C c.3383T>C (p.Leu1128Ser) c.3794T>C (p.Leu1265Ser) c.3978T>C (p.Ile1326=) c.3879T>C (p.Ile1293=) c.4293T>C (p.Ile1431=) c.3950T>C (p.Leu1317Ser) | dbSNP ExAC gnomAD v2 |
16 | g.9763407A>T | CA394706005 | GRIN2A | c.4137T>A (p.Ile1379=) c.3323T>A (p.Leu1108Ter) n.3387T>A c.3666T>A (p.Ile1222=) c.*1507T>A (n.*1507T>A) c.3726T>A (p.Ile1242=) n.3433T>A c.3383T>A (p.Leu1128Ter) c.3794T>A (p.Leu1265Ter) c.3978T>A (p.Ile1326=) c.3879T>A (p.Ile1293=) c.4293T>A (p.Ile1431=) c.3950T>A (p.Leu1317Ter) | |
16 | g.9763408A= | CA2206692706 | GRIN2A | c.4136T= (p.Ile1379=) c.3322T= (p.Leu1108=) n.3386T= c.3665T= (p.Ile1222=) c.*1506T= (n.*1506T=) c.3725T= (p.Ile1242=) n.3432T= c.3382T= (p.Leu1128=) c.3793T= (p.Leu1265=) c.3977T= (p.Ile1326=) c.3878T= (p.Ile1293=) c.4292T= (p.Ile1431=) c.3949T= (p.Leu1317=) | |
16 | g.9763408A>C | CA394706007 | GRIN2A | c.4136T>G (p.Ile1379Ser) c.3322T>G (p.Leu1108Val) n.3386T>G c.3665T>G (p.Ile1222Ser) c.*1506T>G (n.*1506T>G) c.3725T>G (p.Ile1242Ser) n.3432T>G c.3382T>G (p.Leu1128Val) c.3793T>G (p.Leu1265Val) c.3977T>G (p.Ile1326Ser) c.3878T>G (p.Ile1293Ser) c.4292T>G (p.Ile1431Ser) c.3949T>G (p.Leu1317Val) | |
16 | g.9763408A>G | CA277536129 | GRIN2A | c.4136T>C (p.Ile1379Thr) c.3322T>C (p.Leu1108=) n.3386T>C c.3665T>C (p.Ile1222Thr) c.*1506T>C (n.*1506T>C) c.3725T>C (p.Ile1242Thr) n.3432T>C c.3382T>C (p.Leu1128=) c.3793T>C (p.Leu1265=) c.3977T>C (p.Ile1326Thr) c.3878T>C (p.Ile1293Thr) c.4292T>C (p.Ile1431Thr) c.3949T>C (p.Leu1317=) | dbSNP |
16 | g.9763408A>T | CA394706006 | GRIN2A | c.4136T>A (p.Ile1379Asn) c.3322T>A (p.Leu1108Met) n.3386T>A c.3665T>A (p.Ile1222Asn) c.*1506T>A (n.*1506T>A) c.3725T>A (p.Ile1242Asn) n.3432T>A c.3382T>A (p.Leu1128Met) c.3793T>A (p.Leu1265Met) c.3977T>A (p.Ile1326Asn) c.3878T>A (p.Ile1293Asn) c.4292T>A (p.Ile1431Asn) c.3949T>A (p.Leu1317Met) | dbSNP |
16 | g.9763409T>A | CA394706008 | GRIN2A | c.4135A>T (p.Ile1379Phe) c.3321A>T (p.Leu1107Phe) n.3385A>T c.3664A>T (p.Ile1222Phe) c.*1505A>T (n.*1505A>T) c.3724A>T (p.Ile1242Phe) n.3431A>T c.3381A>T (p.Leu1127Phe) c.3792A>T (p.Leu1264Phe) c.3976A>T (p.Ile1326Phe) c.3877A>T (p.Ile1293Phe) c.4291A>T (p.Ile1431Phe) c.3948A>T (p.Leu1316Phe) | |
16 | g.9763409T>C | CA394706009 | GRIN2A | c.4135A>G (p.Ile1379Val) c.3321A>G (p.Leu1107=) n.3385A>G c.3664A>G (p.Ile1222Val) c.*1505A>G (n.*1505A>G) c.3724A>G (p.Ile1242Val) n.3431A>G c.3381A>G (p.Leu1127=) c.3792A>G (p.Leu1264=) c.3976A>G (p.Ile1326Val) c.3877A>G (p.Ile1293Val) c.4291A>G (p.Ile1431Val) c.3948A>G (p.Leu1316=) | |
16 | g.9763409T>G | CA394706010 | GRIN2A | c.4135A>C (p.Ile1379Leu) c.3321A>C (p.Leu1107Phe) n.3385A>C c.3664A>C (p.Ile1222Leu) c.*1505A>C (n.*1505A>C) c.3724A>C (p.Ile1242Leu) n.3431A>C c.3381A>C (p.Leu1127Phe) c.3792A>C (p.Leu1264Phe) c.3976A>C (p.Ile1326Leu) c.3877A>C (p.Ile1293Leu) c.4291A>C (p.Ile1431Leu) c.3948A>C (p.Leu1316Phe) | |
16 | g.9763410A>C | CA394706011 | GRIN2A | c.4134T>G (p.Val1378=) c.3320T>G (p.Leu1107Ter) n.3384T>G c.3663T>G (p.Val1221=) c.*1504T>G (n.*1504T>G) c.3723T>G (p.Val1241=) n.3430T>G c.3380T>G (p.Leu1127Ter) c.3791T>G (p.Leu1264Ter) c.3975T>G (p.Val1325=) c.3876T>G (p.Val1292=) c.4290T>G (p.Val1430=) c.3947T>G (p.Leu1316Ter) | |
16 | g.9763410A>G | CA394706012 | GRIN2A | c.4134T>C (p.Val1378=) c.3320T>C (p.Leu1107Ser) n.3384T>C c.3663T>C (p.Val1221=) c.*1504T>C (n.*1504T>C) c.3723T>C (p.Val1241=) n.3430T>C c.3380T>C (p.Leu1127Ser) c.3791T>C (p.Leu1264Ser) c.3975T>C (p.Val1325=) c.3876T>C (p.Val1292=) c.4290T>C (p.Val1430=) c.3947T>C (p.Leu1316Ser) | |
16 | g.9763410A>T | CA394706013 | GRIN2A | c.4134T>A (p.Val1378=) c.3320T>A (p.Leu1107Ter) n.3384T>A c.3663T>A (p.Val1221=) c.*1504T>A (n.*1504T>A) c.3723T>A (p.Val1241=) n.3430T>A c.3380T>A (p.Leu1127Ter) c.3791T>A (p.Leu1264Ter) c.3975T>A (p.Val1325=) c.3876T>A (p.Val1292=) c.4290T>A (p.Val1430=) c.3947T>A (p.Leu1316Ter) | |
16 | g.9763410_9763411insGTGCCCTGCT | CA2519665286 | GRIN2A | c.4133_4134insAGCAGGGCAC (p.Ile1379AlafsTer23) c.3319_3320insAGCAGGGCAC (p.Leu1107Ter) n.3383_3384insAGCAGGGCAC c.3662_3663insAGCAGGGCAC (p.Ile1222AlafsTer23) c.*1503_*1504insAGCAGGGCAC (n.*1503_*1504insAGCAGGGCAC) c.3722_3723insAGCAGGGCAC (p.Ile1242AlafsTer23) n.3429_3430insAGCAGGGCAC c.3379_3380insAGCAGGGCAC (p.Leu1127Ter) c.3790_3791insAGCAGGGCAC (p.Leu1264Ter) c.3974_3975insAGCAGGGCAC (p.Ile1326AlafsTer23) c.3875_3876insAGCAGGGCAC (p.Ile1293AlafsTer23) c.4289_4290insAGCAGGGCAC (p.Ile1431AlafsTer23) c.3946_3947insAGCAGGGCAC (p.Leu1316Ter) | |
16 | g.9763411A>C | CA394706014 | GRIN2A | c.4133T>G (p.Val1378Gly) c.3319T>G (p.Leu1107Val) n.3383T>G c.3662T>G (p.Val1221Gly) c.*1503T>G (n.*1503T>G) c.3722T>G (p.Val1241Gly) n.3429T>G c.3379T>G (p.Leu1127Val) c.3790T>G (p.Leu1264Val) c.3974T>G (p.Val1325Gly) c.3875T>G (p.Val1292Gly) c.4289T>G (p.Val1430Gly) c.3946T>G (p.Leu1316Val) | |
16 | g.9763411A>G | CA394706015 | GRIN2A | c.4133T>C (p.Val1378Ala) c.3319T>C (p.Leu1107=) n.3383T>C c.3662T>C (p.Val1221Ala) c.*1503T>C (n.*1503T>C) c.3722T>C (p.Val1241Ala) n.3429T>C c.3379T>C (p.Leu1127=) c.3790T>C (p.Leu1264=) c.3974T>C (p.Val1325Ala) c.3875T>C (p.Val1292Ala) c.4289T>C (p.Val1430Ala) c.3946T>C (p.Leu1316=) | |
16 | g.9763411A>T | CA394706016 | GRIN2A | c.4133T>A (p.Val1378Asp) c.3319T>A (p.Leu1107Ile) n.3383T>A c.3662T>A (p.Val1221Asp) c.*1503T>A (n.*1503T>A) c.3722T>A (p.Val1241Asp) n.3429T>A c.3379T>A (p.Leu1127Ile) c.3790T>A (p.Leu1264Ile) c.3974T>A (p.Val1325Asp) c.3875T>A (p.Val1292Asp) c.4289T>A (p.Val1430Asp) c.3946T>A (p.Leu1316Ile) | dbSNP |
16 | g.9763412C>A | CA394706017 | GRIN2A | c.4132G>T (p.Val1378Phe) c.3318G>T (p.Trp1106Cys) n.3382G>T c.3661G>T (p.Val1221Phe) c.*1502G>T (n.*1502G>T) c.3721G>T (p.Val1241Phe) n.3428G>T c.3378G>T (p.Trp1126Cys) c.3789G>T (p.Trp1263Cys) c.3973G>T (p.Val1325Phe) c.3874G>T (p.Val1292Phe) c.4288G>T (p.Val1430Phe) c.3945G>T (p.Trp1315Cys) | dbSNP |
16 | g.9763412C>G | CA394706018 | GRIN2A | c.4132G>C (p.Val1378Leu) c.3318G>C (p.Trp1106Cys) n.3382G>C c.3661G>C (p.Val1221Leu) c.*1502G>C (n.*1502G>C) c.3721G>C (p.Val1241Leu) n.3428G>C c.3378G>C (p.Trp1126Cys) c.3789G>C (p.Trp1263Cys) c.3973G>C (p.Val1325Leu) c.3874G>C (p.Val1292Leu) c.4288G>C (p.Val1430Leu) c.3945G>C (p.Trp1315Cys) | dbSNP |
16 | g.9763412C>T | CA394706019 | GRIN2A | c.4132G>A (p.Val1378Ile) c.3318G>A (p.Trp1106Ter) n.3382G>A c.3661G>A (p.Val1221Ile) c.*1502G>A (n.*1502G>A) c.3721G>A (p.Val1241Ile) n.3428G>A c.3378G>A (p.Trp1126Ter) c.3789G>A (p.Trp1263Ter) c.3973G>A (p.Val1325Ile) c.3874G>A (p.Val1292Ile) c.4288G>A (p.Val1430Ile) c.3945G>A (p.Trp1315Ter) | dbSNP |
16 | g.9763413C>A | CA394706021 | GRIN2A | c.4131G>T (p.Leu1377Phe) c.3317G>T (p.Trp1106Leu) n.3381G>T c.3660G>T (p.Leu1220Phe) c.*1501G>T (n.*1501G>T) c.3720G>T (p.Leu1240Phe) n.3427G>T c.3377G>T (p.Trp1126Leu) c.3788G>T (p.Trp1263Leu) c.3972G>T (p.Leu1324Phe) c.3873G>T (p.Leu1291Phe) c.4287G>T (p.Leu1429Phe) c.3944G>T (p.Trp1315Leu) | dbSNP |
16 | g.9763413C= | CA2206692707 | GRIN2A | c.4131G= (p.Leu1377=) c.3317G= (p.Trp1106=) n.3381G= c.3660G= (p.Leu1220=) c.*1501G= (n.*1501G=) c.3720G= (p.Leu1240=) n.3427G= c.3377G= (p.Trp1126=) c.3788G= (p.Trp1263=) c.3972G= (p.Leu1324=) c.3873G= (p.Leu1291=) c.4287G= (p.Leu1429=) c.3944G= (p.Trp1315=) | |
16 | g.9763413C>G | CA7896210 | GRIN2A | c.4131G>C (p.Leu1377Phe) c.3317G>C (p.Trp1106Ser) n.3381G>C c.3660G>C (p.Leu1220Phe) c.*1501G>C (n.*1501G>C) c.3720G>C (p.Leu1240Phe) n.3427G>C c.3377G>C (p.Trp1126Ser) c.3788G>C (p.Trp1263Ser) c.3972G>C (p.Leu1324Phe) c.3873G>C (p.Leu1291Phe) c.4287G>C (p.Leu1429Phe) c.3944G>C (p.Trp1315Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763413C>T | CA394706020 | GRIN2A | c.4131G>A (p.Leu1377=) c.3317G>A (p.Trp1106Ter) n.3381G>A c.3660G>A (p.Leu1220=) c.*1501G>A (n.*1501G>A) c.3720G>A (p.Leu1240=) n.3427G>A c.3377G>A (p.Trp1126Ter) c.3788G>A (p.Trp1263Ter) c.3972G>A (p.Leu1324=) c.3873G>A (p.Leu1291=) c.4287G>A (p.Leu1429=) c.3944G>A (p.Trp1315Ter) | dbSNP |
16 | g.9763414A>C | CA394706022 | GRIN2A | c.4130T>G (p.Leu1377Trp) c.3316T>G (p.Trp1106Gly) n.3380T>G c.3659T>G (p.Leu1220Trp) c.*1500T>G (n.*1500T>G) c.3719T>G (p.Leu1240Trp) n.3426T>G c.3376T>G (p.Trp1126Gly) c.3787T>G (p.Trp1263Gly) c.3971T>G (p.Leu1324Trp) c.3872T>G (p.Leu1291Trp) c.4286T>G (p.Leu1429Trp) c.3943T>G (p.Trp1315Gly) | |
16 | g.9763414A>G | CA394706024 | GRIN2A | c.4130T>C (p.Leu1377Ser) c.3316T>C (p.Trp1106Arg) n.3380T>C c.3659T>C (p.Leu1220Ser) c.*1500T>C (n.*1500T>C) c.3719T>C (p.Leu1240Ser) n.3426T>C c.3376T>C (p.Trp1126Arg) c.3787T>C (p.Trp1263Arg) c.3971T>C (p.Leu1324Ser) c.3872T>C (p.Leu1291Ser) c.4286T>C (p.Leu1429Ser) c.3943T>C (p.Trp1315Arg) | |
16 | g.9763414A>T | CA394706023 | GRIN2A | c.4130T>A (p.Leu1377Ter) c.3316T>A (p.Trp1106Arg) n.3380T>A c.3659T>A (p.Leu1220Ter) c.*1500T>A (n.*1500T>A) c.3719T>A (p.Leu1240Ter) n.3426T>A c.3376T>A (p.Trp1126Arg) c.3787T>A (p.Trp1263Arg) c.3971T>A (p.Leu1324Ter) c.3872T>A (p.Leu1291Ter) c.4286T>A (p.Leu1429Ter) c.3943T>A (p.Trp1315Arg) | dbSNP |
16 | g.9763415A= | CA2206692708 | GRIN2A | c.4129T= (p.Leu1377=) c.3315T= (p.Ala1105=) n.3379T= c.3658T= (p.Leu1220=) c.*1499T= (n.*1499T=) c.3718T= (p.Leu1240=) n.3425T= c.3375T= (p.Ala1125=) c.3786T= (p.Ala1262=) c.3970T= (p.Leu1324=) c.3871T= (p.Leu1291=) c.4285T= (p.Leu1429=) c.3942T= (p.Ala1314=) | |
16 | g.9763415A>C | CA394706025 | GRIN2A | c.4129T>G (p.Leu1377Val) c.3315T>G (p.Ala1105=) n.3379T>G c.3658T>G (p.Leu1220Val) c.*1499T>G (n.*1499T>G) c.3718T>G (p.Leu1240Val) n.3425T>G c.3375T>G (p.Ala1125=) c.3786T>G (p.Ala1262=) c.3970T>G (p.Leu1324Val) c.3871T>G (p.Leu1291Val) c.4285T>G (p.Leu1429Val) c.3942T>G (p.Ala1314=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763415A>G | CA493692598 | GRIN2A | c.4129T>C (p.Leu1377=) c.3315T>C (p.Ala1105=) n.3379T>C c.3658T>C (p.Leu1220=) c.*1499T>C (n.*1499T>C) c.3718T>C (p.Leu1240=) n.3425T>C c.3375T>C (p.Ala1125=) c.3786T>C (p.Ala1262=) c.3970T>C (p.Leu1324=) c.3871T>C (p.Leu1291=) c.4285T>C (p.Leu1429=) c.3942T>C (p.Ala1314=) | dbSNP |
16 | g.9763415A>T | CA394706026 | GRIN2A | c.4129T>A (p.Leu1377Met) c.3315T>A (p.Ala1105=) n.3379T>A c.3658T>A (p.Leu1220Met) c.*1499T>A (n.*1499T>A) c.3718T>A (p.Leu1240Met) n.3425T>A c.3375T>A (p.Ala1125=) c.3786T>A (p.Ala1262=) c.3970T>A (p.Leu1324Met) c.3871T>A (p.Leu1291Met) c.4285T>A (p.Leu1429Met) c.3942T>A (p.Ala1314=) | dbSNP |
16 | g.9763415_9763416delinsAG | CA2206692709 | GRIN2A | c.4128_4129delinsCT (p.Arg1376=) c.3314_3315delinsCT (p.Ala1105=) n.3378_3379delinsCT c.3657_3658delinsCT (p.Arg1219=) c.*1498_*1499delinsCT (n.*1498_*1499delinsCT) c.3717_3718delinsCT (p.Arg1239=) n.3424_3425delinsCT c.3374_3375delinsCT (p.Ala1125=) c.3785_3786delinsCT (p.Ala1262=) c.3969_3970delinsCT (p.Arg1323=) c.3870_3871delinsCT (p.Arg1290=) c.4284_4285delinsCT (p.Arg1428=) c.3941_3942delinsCT (p.Ala1314=) | |
16 | g.9763416del | CA621175125 | GRIN2A | c.4128del (p.Leu1377TrpfsTer20) c.3314del (p.Ala1105ValfsTer22) n.3378del c.3657del (p.Leu1220TrpfsTer20) c.*1498del (n.*1498del) c.3717del (p.Leu1240TrpfsTer20) n.3424del c.3374del (p.Ala1125ValfsTer22) c.3785del (p.Ala1262ValfsTer22) c.3969del (p.Leu1324TrpfsTer20) c.3870del (p.Leu1291TrpfsTer20) c.4284del (p.Leu1429TrpfsTer20) c.3941del (p.Ala1314ValfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763416G>A | CA394706027 | GRIN2A | c.4128C>T (p.Arg1376=) c.3314C>T (p.Ala1105Val) n.3378C>T c.3657C>T (p.Arg1219=) c.*1498C>T (n.*1498C>T) c.3717C>T (p.Arg1239=) n.3424C>T c.3374C>T (p.Ala1125Val) c.3785C>T (p.Ala1262Val) c.3969C>T (p.Arg1323=) c.3870C>T (p.Arg1290=) c.4284C>T (p.Arg1428=) c.3941C>T (p.Ala1314Val) | dbSNP gnomAD v4 |
16 | g.9763416G>C | CA394706028 | GRIN2A | c.4128C>G (p.Arg1376=) c.3314C>G (p.Ala1105Gly) n.3378C>G c.3657C>G (p.Arg1219=) c.*1498C>G (n.*1498C>G) c.3717C>G (p.Arg1239=) n.3424C>G c.3374C>G (p.Ala1125Gly) c.3785C>G (p.Ala1262Gly) c.3969C>G (p.Arg1323=) c.3870C>G (p.Arg1290=) c.4284C>G (p.Arg1428=) c.3941C>G (p.Ala1314Gly) | dbSNP |
16 | g.9763416G>T | CA394706029 | GRIN2A | c.4128C>A (p.Arg1376=) c.3314C>A (p.Ala1105Asp) n.3378C>A c.3657C>A (p.Arg1219=) c.*1498C>A (n.*1498C>A) c.3717C>A (p.Arg1239=) n.3424C>A c.3374C>A (p.Ala1125Asp) c.3785C>A (p.Ala1262Asp) c.3969C>A (p.Arg1323=) c.3870C>A (p.Arg1290=) c.4284C>A (p.Arg1428=) c.3941C>A (p.Ala1314Asp) | |
16 | g.9763417C>A | CA394706030 | GRIN2A | c.4127G>T (p.Arg1376Leu) c.3313G>T (p.Ala1105Ser) n.3377G>T c.3656G>T (p.Arg1219Leu) c.*1497G>T (n.*1497G>T) c.3716G>T (p.Arg1239Leu) n.3423G>T c.3373G>T (p.Ala1125Ser) c.3784G>T (p.Ala1262Ser) c.3968G>T (p.Arg1323Leu) c.3869G>T (p.Arg1290Leu) c.4283G>T (p.Arg1428Leu) c.3940G>T (p.Ala1314Ser) | dbSNP |
16 | g.9763417C= | CA2206692710 | GRIN2A | c.4127G= (p.Arg1376=) c.3313G= (p.Ala1105=) n.3377G= c.3656G= (p.Arg1219=) c.*1497G= (n.*1497G=) c.3716G= (p.Arg1239=) n.3423G= c.3373G= (p.Ala1125=) c.3784G= (p.Ala1262=) c.3968G= (p.Arg1323=) c.3869G= (p.Arg1290=) c.4283G= (p.Arg1428=) c.3940G= (p.Ala1314=) | |
16 | g.9763417C>G | CA394706031 | GRIN2A | c.4127G>C (p.Arg1376Pro) c.3313G>C (p.Ala1105Pro) n.3377G>C c.3656G>C (p.Arg1219Pro) c.*1497G>C (n.*1497G>C) c.3716G>C (p.Arg1239Pro) n.3423G>C c.3373G>C (p.Ala1125Pro) c.3784G>C (p.Ala1262Pro) c.3968G>C (p.Arg1323Pro) c.3869G>C (p.Arg1290Pro) c.4283G>C (p.Arg1428Pro) c.3940G>C (p.Ala1314Pro) | dbSNP |
16 | g.9763417C>T | CA277536138 | GRIN2A | c.4127G>A (p.Arg1376His) c.3313G>A (p.Ala1105Thr) n.3377G>A c.3656G>A (p.Arg1219His) c.*1497G>A (n.*1497G>A) c.3716G>A (p.Arg1239His) n.3423G>A c.3373G>A (p.Ala1125Thr) c.3784G>A (p.Ala1262Thr) c.3968G>A (p.Arg1323His) c.3869G>A (p.Arg1290His) c.4283G>A (p.Arg1428His) c.3940G>A (p.Ala1314Thr) | dbSNP gnomAD v4 |
16 | g.9763418G>A | CA394706032 | GRIN2A | c.4126C>T (p.Arg1376Cys) c.3312C>T (p.Asn1104=) n.3376C>T c.3655C>T (p.Arg1219Cys) c.*1496C>T (n.*1496C>T) c.3715C>T (p.Arg1239Cys) n.3422C>T c.3372C>T (p.Asn1124=) c.3783C>T (p.Asn1261=) c.3967C>T (p.Arg1323Cys) c.3868C>T (p.Arg1290Cys) c.4282C>T (p.Arg1428Cys) c.3939C>T (p.Asn1313=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.9763418G>C | CA394706033 | GRIN2A | c.4126C>G (p.Arg1376Gly) c.3312C>G (p.Asn1104Lys) n.3376C>G c.3655C>G (p.Arg1219Gly) c.*1496C>G (n.*1496C>G) c.3715C>G (p.Arg1239Gly) n.3422C>G c.3372C>G (p.Asn1124Lys) c.3783C>G (p.Asn1261Lys) c.3967C>G (p.Arg1323Gly) c.3868C>G (p.Arg1290Gly) c.4282C>G (p.Arg1428Gly) c.3939C>G (p.Asn1313Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763418G= | CA2206692712 | GRIN2A | c.4126C= (p.Arg1376=) c.3312C= (p.Asn1104=) n.3376C= c.3655C= (p.Arg1219=) c.*1496C= (n.*1496C=) c.3715C= (p.Arg1239=) n.3422C= c.3372C= (p.Asn1124=) c.3783C= (p.Asn1261=) c.3967C= (p.Arg1323=) c.3868C= (p.Arg1290=) c.4282C= (p.Arg1428=) c.3939C= (p.Asn1313=) | |
16 | g.9763418G>T | CA394706034 | GRIN2A | c.4126C>A (p.Arg1376Ser) c.3312C>A (p.Asn1104Lys) n.3376C>A c.3655C>A (p.Arg1219Ser) c.*1496C>A (n.*1496C>A) c.3715C>A (p.Arg1239Ser) n.3422C>A c.3372C>A (p.Asn1124Lys) c.3783C>A (p.Asn1261Lys) c.3967C>A (p.Arg1323Ser) c.3868C>A (p.Arg1290Ser) c.4282C>A (p.Arg1428Ser) c.3939C>A (p.Asn1313Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
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=) |