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.9763339C>A | CA394705775 | GRIN2A | c.4205G>T (p.Arg1402Leu) c.*16G>T (n.*16G>T) n.3455G>T c.3734G>T (p.Arg1245Leu) c.*1575G>T (n.*1575G>T) c.3794G>T (p.Arg1265Leu) n.3501G>T c.4046G>T (p.Arg1349Leu) c.3947G>T (p.Arg1316Leu) c.4361G>T (p.Arg1454Leu) | dbSNP gnomAD v4 |
16 | g.9763339C= | CA2206692673 | GRIN2A | c.4205G= (p.Arg1402=) c.*16G= (n.*16G=) n.3455G= c.3734G= (p.Arg1245=) c.*1575G= (n.*1575G=) c.3794G= (p.Arg1265=) n.3501G= c.4046G= (p.Arg1349=) c.3947G= (p.Arg1316=) c.4361G= (p.Arg1454=) | |
16 | g.9763339C>G | CA394705777 | GRIN2A | c.4205G>C (p.Arg1402Pro) c.*16G>C (n.*16G>C) n.3455G>C c.3734G>C (p.Arg1245Pro) c.*1575G>C (n.*1575G>C) c.3794G>C (p.Arg1265Pro) n.3501G>C c.4046G>C (p.Arg1349Pro) c.3947G>C (p.Arg1316Pro) c.4361G>C (p.Arg1454Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763339C>T | CA7896199 | GRIN2A | c.4205G>A (p.Arg1402Gln) c.*16G>A (n.*16G>A) n.3455G>A c.3734G>A (p.Arg1245Gln) c.*1575G>A (n.*1575G>A) c.3794G>A (p.Arg1265Gln) n.3501G>A c.4046G>A (p.Arg1349Gln) c.3947G>A (p.Arg1316Gln) c.4361G>A (p.Arg1454Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763340G>A | CA277535958 | GRIN2A | c.4204C>T (p.Arg1402Trp) c.*15C>T (n.*15C>T) n.3454C>T c.3733C>T (p.Arg1245Trp) c.*1574C>T (n.*1574C>T) c.3793C>T (p.Arg1265Trp) n.3500C>T c.4045C>T (p.Arg1349Trp) c.3946C>T (p.Arg1316Trp) c.4360C>T (p.Arg1454Trp) | dbSNP gnomAD v4 COSMIC |
16 | g.9763340G>C | CA394705781 | GRIN2A | c.4204C>G (p.Arg1402Gly) c.*15C>G (n.*15C>G) n.3454C>G c.3733C>G (p.Arg1245Gly) c.*1574C>G (n.*1574C>G) c.3793C>G (p.Arg1265Gly) n.3500C>G c.4045C>G (p.Arg1349Gly) c.3946C>G (p.Arg1316Gly) c.4360C>G (p.Arg1454Gly) | dbSNP |
16 | g.9763340G= | CA2206692674 | GRIN2A | c.4204C= (p.Arg1402=) c.*15C= (n.*15C=) n.3454C= c.3733C= (p.Arg1245=) c.*1574C= (n.*1574C=) c.3793C= (p.Arg1265=) n.3500C= c.4045C= (p.Arg1349=) c.3946C= (p.Arg1316=) c.4360C= (p.Arg1454=) | |
16 | g.9763340G>T | CA493692489 | GRIN2A | c.4204C>A (p.Arg1402=) c.*15C>A (n.*15C>A) n.3454C>A c.3733C>A (p.Arg1245=) c.*1574C>A (n.*1574C>A) c.3793C>A (p.Arg1265=) n.3500C>A c.4045C>A (p.Arg1349=) c.3946C>A (p.Arg1316=) c.4360C>A (p.Arg1454=) | gnomAD v4 |
16 | g.9763341A>C | CA493692490 | GRIN2A | c.4203T>G (p.Leu1401=) c.*14T>G (n.*14T>G) n.3453T>G c.3732T>G (p.Leu1244=) c.*1573T>G (n.*1573T>G) c.3792T>G (p.Leu1264=) n.3499T>G c.4044T>G (p.Leu1348=) c.3945T>G (p.Leu1315=) c.4359T>G (p.Leu1453=) | |
16 | g.9763341A>G | CA493692491 | GRIN2A | c.4203T>C (p.Leu1401=) c.*14T>C (n.*14T>C) n.3453T>C c.3732T>C (p.Leu1244=) c.*1573T>C (n.*1573T>C) c.3792T>C (p.Leu1264=) n.3499T>C c.4044T>C (p.Leu1348=) c.3945T>C (p.Leu1315=) c.4359T>C (p.Leu1453=) | |
16 | g.9763341A>T | CA493692493 | GRIN2A | c.4203T>A (p.Leu1401=) c.*14T>A (n.*14T>A) n.3453T>A c.3732T>A (p.Leu1244=) c.*1573T>A (n.*1573T>A) c.3792T>A (p.Leu1264=) n.3499T>A c.4044T>A (p.Leu1348=) c.3945T>A (p.Leu1315=) c.4359T>A (p.Leu1453=) | |
16 | g.9763342A>C | CA394705784 | GRIN2A | c.4202T>G (p.Leu1401Arg) c.*13T>G (n.*13T>G) n.3452T>G c.3731T>G (p.Leu1244Arg) c.*1572T>G (n.*1572T>G) c.3791T>G (p.Leu1264Arg) n.3498T>G c.4043T>G (p.Leu1348Arg) c.3944T>G (p.Leu1315Arg) c.4358T>G (p.Leu1453Arg) | COSMIC |
16 | g.9763342A>G | CA394705786 | GRIN2A | c.4202T>C (p.Leu1401Pro) c.*13T>C (n.*13T>C) n.3452T>C c.3731T>C (p.Leu1244Pro) c.*1572T>C (n.*1572T>C) c.3791T>C (p.Leu1264Pro) n.3498T>C c.4043T>C (p.Leu1348Pro) c.3944T>C (p.Leu1315Pro) c.4358T>C (p.Leu1453Pro) | |
16 | g.9763342A>T | CA394705788 | GRIN2A | c.4202T>A (p.Leu1401His) c.*13T>A (n.*13T>A) n.3452T>A c.3731T>A (p.Leu1244His) c.*1572T>A (n.*1572T>A) c.3791T>A (p.Leu1264His) n.3498T>A c.4043T>A (p.Leu1348His) c.3944T>A (p.Leu1315His) c.4358T>A (p.Leu1453His) | dbSNP |
16 | g.9763343G>A | CA394705789 | GRIN2A | c.4201C>T (p.Leu1401Phe) c.*12C>T (n.*12C>T) n.3451C>T c.3730C>T (p.Leu1244Phe) c.*1571C>T (n.*1571C>T) c.3790C>T (p.Leu1264Phe) n.3497C>T c.4042C>T (p.Leu1348Phe) c.3943C>T (p.Leu1315Phe) c.4357C>T (p.Leu1453Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.9763343G>C | CA394705794 | GRIN2A | c.4201C>G (p.Leu1401Val) c.*12C>G (n.*12C>G) n.3451C>G c.3730C>G (p.Leu1244Val) c.*1571C>G (n.*1571C>G) c.3790C>G (p.Leu1264Val) n.3497C>G c.4042C>G (p.Leu1348Val) c.3943C>G (p.Leu1315Val) c.4357C>G (p.Leu1453Val) | dbSNP |
16 | g.9763343G>T | CA394705792 | GRIN2A | c.4201C>A (p.Leu1401Ile) c.*12C>A (n.*12C>A) n.3451C>A c.3730C>A (p.Leu1244Ile) c.*1571C>A (n.*1571C>A) c.3790C>A (p.Leu1264Ile) n.3497C>A c.4042C>A (p.Leu1348Ile) c.3943C>A (p.Leu1315Ile) c.4357C>A (p.Leu1453Ile) | |
16 | g.9763344A>C | CA394705796 | GRIN2A | c.4200T>G (p.Tyr1400Ter) c.*11T>G (n.*11T>G) n.3450T>G c.3729T>G (p.Tyr1243Ter) c.*1570T>G (n.*1570T>G) c.3789T>G (p.Tyr1263Ter) n.3496T>G c.4041T>G (p.Tyr1347Ter) c.3942T>G (p.Tyr1314Ter) c.4356T>G (p.Tyr1452Ter) | |
16 | g.9763344A>G | CA493692495 | GRIN2A | c.4200T>C (p.Tyr1400=) c.*11T>C (n.*11T>C) n.3450T>C c.3729T>C (p.Tyr1243=) c.*1570T>C (n.*1570T>C) c.3789T>C (p.Tyr1263=) n.3496T>C c.4041T>C (p.Tyr1347=) c.3942T>C (p.Tyr1314=) c.4356T>C (p.Tyr1452=) | |
16 | g.9763344A>T | CA394705798 | GRIN2A | c.4200T>A (p.Tyr1400Ter) c.*11T>A (n.*11T>A) n.3450T>A c.3729T>A (p.Tyr1243Ter) c.*1570T>A (n.*1570T>A) c.3789T>A (p.Tyr1263Ter) n.3496T>A c.4041T>A (p.Tyr1347Ter) c.3942T>A (p.Tyr1314Ter) c.4356T>A (p.Tyr1452Ter) | dbSNP |
16 | g.9763345T>A | CA394705800 | GRIN2A | c.4199A>T (p.Tyr1400Phe) c.*10A>T (n.*10A>T) n.3449A>T c.3728A>T (p.Tyr1243Phe) c.*1569A>T (n.*1569A>T) c.3788A>T (p.Tyr1263Phe) n.3495A>T c.4040A>T (p.Tyr1347Phe) c.3941A>T (p.Tyr1314Phe) c.4355A>T (p.Tyr1452Phe) | dbSNP |
16 | g.9763345T>C | CA394705802 | GRIN2A | c.4199A>G (p.Tyr1400Cys) c.*10A>G (n.*10A>G) n.3449A>G c.3728A>G (p.Tyr1243Cys) c.*1569A>G (n.*1569A>G) c.3788A>G (p.Tyr1263Cys) n.3495A>G c.4040A>G (p.Tyr1347Cys) c.3941A>G (p.Tyr1314Cys) c.4355A>G (p.Tyr1452Cys) | dbSNP gnomAD v4 |
16 | g.9763345T>G | CA394705804 | GRIN2A | c.4199A>C (p.Tyr1400Ser) c.*10A>C (n.*10A>C) n.3449A>C c.3728A>C (p.Tyr1243Ser) c.*1569A>C (n.*1569A>C) c.3788A>C (p.Tyr1263Ser) n.3495A>C c.4040A>C (p.Tyr1347Ser) c.3941A>C (p.Tyr1314Ser) c.4355A>C (p.Tyr1452Ser) | dbSNP |
16 | g.9763345T= | CA2206692675 | GRIN2A | c.4199A= (p.Tyr1400=) c.*10A= (n.*10A=) n.3449A= c.3728A= (p.Tyr1243=) c.*1569A= (n.*1569A=) c.3788A= (p.Tyr1263=) n.3495A= c.4040A= (p.Tyr1347=) c.3941A= (p.Tyr1314=) c.4355A= (p.Tyr1452=) | |
16 | g.9763346A>C | CA394705807 | GRIN2A | c.4198T>G (p.Tyr1400Asp) c.*9T>G (n.*9T>G) n.3448T>G c.3727T>G (p.Tyr1243Asp) c.*1568T>G (n.*1568T>G) c.3787T>G (p.Tyr1263Asp) n.3494T>G c.4039T>G (p.Tyr1347Asp) c.3940T>G (p.Tyr1314Asp) c.4354T>G (p.Tyr1452Asp) | |
16 | g.9763346A>G | CA394705808 | GRIN2A | c.4198T>C (p.Tyr1400His) c.*9T>C (n.*9T>C) n.3448T>C c.3727T>C (p.Tyr1243His) c.*1568T>C (n.*1568T>C) c.3787T>C (p.Tyr1263His) n.3494T>C c.4039T>C (p.Tyr1347His) c.3940T>C (p.Tyr1314His) c.4354T>C (p.Tyr1452His) | ClinVar |
16 | g.9763346A>T | CA394705809 | GRIN2A | c.4198T>A (p.Tyr1400Asn) c.*9T>A (n.*9T>A) n.3448T>A c.3727T>A (p.Tyr1243Asn) c.*1568T>A (n.*1568T>A) c.3787T>A (p.Tyr1263Asn) n.3494T>A c.4039T>A (p.Tyr1347Asn) c.3940T>A (p.Tyr1314Asn) c.4354T>A (p.Tyr1452Asn) | dbSNP |
16 | g.9763347G>A | CA493692502 | GRIN2A | c.4197C>T (p.Ser1399=) c.*8C>T (n.*8C>T) n.3447C>T c.3726C>T (p.Ser1242=) c.*1567C>T (n.*1567C>T) c.3786C>T (p.Ser1262=) n.3493C>T c.4038C>T (p.Ser1346=) c.3939C>T (p.Ser1313=) c.4353C>T (p.Ser1451=) | dbSNP COSMIC |
16 | g.9763347G>C | CA394705812 | GRIN2A | c.4197C>G (p.Ser1399Arg) c.*8C>G (n.*8C>G) n.3447C>G c.3726C>G (p.Ser1242Arg) c.*1567C>G (n.*1567C>G) c.3786C>G (p.Ser1262Arg) n.3493C>G c.4038C>G (p.Ser1346Arg) c.3939C>G (p.Ser1313Arg) c.4353C>G (p.Ser1451Arg) | dbSNP |
16 | g.9763347G>T | CA394705814 | GRIN2A | c.4197C>A (p.Ser1399Arg) c.*8C>A (n.*8C>A) n.3447C>A c.3726C>A (p.Ser1242Arg) c.*1567C>A (n.*1567C>A) c.3786C>A (p.Ser1262Arg) n.3493C>A c.4038C>A (p.Ser1346Arg) c.3939C>A (p.Ser1313Arg) c.4353C>A (p.Ser1451Arg) | |
16 | g.9763348C>A | CA394705819 | GRIN2A | c.4196G>T (p.Ser1399Ile) c.*7G>T (n.*7G>T) n.3446G>T c.3725G>T (p.Ser1242Ile) c.*1566G>T (n.*1566G>T) c.3785G>T (p.Ser1262Ile) n.3492G>T c.4037G>T (p.Ser1346Ile) c.3938G>T (p.Ser1313Ile) c.4352G>T (p.Ser1451Ile) | dbSNP |
16 | g.9763348C= | CA2206692676 | GRIN2A | c.4196G= (p.Ser1399=) c.*7G= (n.*7G=) n.3446G= c.3725G= (p.Ser1242=) c.*1566G= (n.*1566G=) c.3785G= (p.Ser1262=) n.3492G= c.4037G= (p.Ser1346=) c.3938G= (p.Ser1313=) c.4352G= (p.Ser1451=) | |
16 | g.9763348C>G | CA394705817 | GRIN2A | c.4196G>C (p.Ser1399Thr) c.*7G>C (n.*7G>C) n.3446G>C c.3725G>C (p.Ser1242Thr) c.*1566G>C (n.*1566G>C) c.3785G>C (p.Ser1262Thr) n.3492G>C c.4037G>C (p.Ser1346Thr) c.3938G>C (p.Ser1313Thr) c.4352G>C (p.Ser1451Thr) | dbSNP |
16 | g.9763348C>T | CA394705815 | GRIN2A | c.4196G>A (p.Ser1399Asn) c.*7G>A (n.*7G>A) n.3446G>A c.3725G>A (p.Ser1242Asn) c.*1566G>A (n.*1566G>A) c.3785G>A (p.Ser1262Asn) n.3492G>A c.4037G>A (p.Ser1346Asn) c.3938G>A (p.Ser1313Asn) c.4352G>A (p.Ser1451Asn) | dbSNP |
16 | g.9763349T>A | CA394705821 | GRIN2A | c.4195A>T (p.Ser1399Cys) c.*6A>T (n.*6A>T) n.3445A>T c.3724A>T (p.Ser1242Cys) c.*1565A>T (n.*1565A>T) c.3784A>T (p.Ser1262Cys) n.3491A>T c.4036A>T (p.Ser1346Cys) c.3937A>T (p.Ser1313Cys) c.4351A>T (p.Ser1451Cys) | dbSNP |
16 | g.9763349T>C | CA394705823 | GRIN2A | c.4195A>G (p.Ser1399Gly) c.*6A>G (n.*6A>G) n.3445A>G c.3724A>G (p.Ser1242Gly) c.*1565A>G (n.*1565A>G) c.3784A>G (p.Ser1262Gly) n.3491A>G c.4036A>G (p.Ser1346Gly) c.3937A>G (p.Ser1313Gly) c.4351A>G (p.Ser1451Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.9763349T>G | CA394705825 | GRIN2A | c.4195A>C (p.Ser1399Arg) c.*6A>C (n.*6A>C) n.3445A>C c.3724A>C (p.Ser1242Arg) c.*1565A>C (n.*1565A>C) c.3784A>C (p.Ser1262Arg) n.3491A>C c.4036A>C (p.Ser1346Arg) c.3937A>C (p.Ser1313Arg) c.4351A>C (p.Ser1451Arg) | |
16 | g.9763349T= | CA2206692677 | GRIN2A | c.4195A= (p.Ser1399=) c.*6A= (n.*6A=) n.3445A= c.3724A= (p.Ser1242=) c.*1565A= (n.*1565A=) c.3784A= (p.Ser1262=) n.3491A= c.4036A= (p.Ser1346=) c.3937A= (p.Ser1313=) c.4351A= (p.Ser1451=) | |
16 | g.9763350G>A | CA493692509 | GRIN2A | c.4194C>T (p.Asp1398=) c.*5C>T (n.*5C>T) n.3444C>T c.3723C>T (p.Asp1241=) c.*1564C>T (n.*1564C>T) c.3783C>T (p.Asp1261=) n.3490C>T c.4035C>T (p.Asp1345=) c.3936C>T (p.Asp1312=) c.4350C>T (p.Asp1450=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9763350G>C | CA394705827 | GRIN2A | c.4194C>G (p.Asp1398Glu) c.*5C>G (n.*5C>G) n.3444C>G c.3723C>G (p.Asp1241Glu) c.*1564C>G (n.*1564C>G) c.3783C>G (p.Asp1261Glu) n.3490C>G c.4035C>G (p.Asp1345Glu) c.3936C>G (p.Asp1312Glu) c.4350C>G (p.Asp1450Glu) | dbSNP |
16 | g.9763350G= | CA2206692678 | GRIN2A | c.4194C= (p.Asp1398=) c.*5C= (n.*5C=) n.3444C= c.3723C= (p.Asp1241=) c.*1564C= (n.*1564C=) c.3783C= (p.Asp1261=) n.3490C= c.4035C= (p.Asp1345=) c.3936C= (p.Asp1312=) c.4350C= (p.Asp1450=) | |
16 | g.9763350G>T | CA394705829 | GRIN2A | c.4194C>A (p.Asp1398Glu) c.*5C>A (n.*5C>A) n.3444C>A c.3723C>A (p.Asp1241Glu) c.*1564C>A (n.*1564C>A) c.3783C>A (p.Asp1261Glu) n.3490C>A c.4035C>A (p.Asp1345Glu) c.3936C>A (p.Asp1312Glu) c.4350C>A (p.Asp1450Glu) | |
16 | g.9763351T>A | CA394705831 | GRIN2A | c.4193A>T (p.Asp1398Val) c.*4A>T (n.*4A>T) n.3443A>T c.3722A>T (p.Asp1241Val) c.*1563A>T (n.*1563A>T) c.3782A>T (p.Asp1261Val) n.3489A>T c.4034A>T (p.Asp1345Val) c.3935A>T (p.Asp1312Val) c.4349A>T (p.Asp1450Val) | dbSNP |
16 | g.9763351T>C | CA394705833 | GRIN2A | c.4193A>G (p.Asp1398Gly) c.*4A>G (n.*4A>G) n.3443A>G c.3722A>G (p.Asp1241Gly) c.*1563A>G (n.*1563A>G) c.3782A>G (p.Asp1261Gly) n.3489A>G c.4034A>G (p.Asp1345Gly) c.3935A>G (p.Asp1312Gly) c.4349A>G (p.Asp1450Gly) | dbSNP |
16 | g.9763351T>G | CA394705835 | GRIN2A | c.4193A>C (p.Asp1398Ala) c.*4A>C (n.*4A>C) n.3443A>C c.3722A>C (p.Asp1241Ala) c.*1563A>C (n.*1563A>C) c.3782A>C (p.Asp1261Ala) n.3489A>C c.4034A>C (p.Asp1345Ala) c.3935A>C (p.Asp1312Ala) c.4349A>C (p.Asp1450Ala) | dbSNP |
16 | g.9763351_9763355del | CA2695222771 | GRIN2A | c.4189_4193del (p.Asn1397GlnfsTer23) c.3375_*4del (n.[c.3375_*4del;Ter1125CysextTer?]) n.3439_3443del c.3718_3722del (p.Asn1240GlnfsTer23) c.*1559_*1563del (n.*1559_*1563del) c.3778_3782del (p.Asn1260GlnfsTer23) n.3485_3489del c.3435_*4del (n.[c.3435_*4del;Ter1145CysextTer?]) c.3846_*4del (n.[c.3846_*4del;Ter1282CysextTer?]) c.4030_4034del (p.Asn1344GlnfsTer23) c.3931_3935del (p.Asn1311GlnfsTer23) c.4345_4349del (p.Asn1449GlnfsTer23) c.4002_*4del (n.[c.4002_*4del;Ter1334CysextTer?]) | |
16 | g.9763354_9763357del | CA2631674844 | GRIN2A | c.4190_4193del (p.Asn1397ThrfsTer8) c.*1_*4del (n.*1_*4del) n.3440_3443del c.3719_3722del (p.Asn1240ThrfsTer8) c.*1560_*1563del (n.*1560_*1563del) c.3779_3782del (p.Asn1260ThrfsTer8) n.3486_3489del c.4031_4034del (p.Asn1344ThrfsTer8) c.3932_3935del (p.Asn1311ThrfsTer8) c.4346_4349del (p.Asn1449ThrfsTer8) | gnomAD v4 |
16 | g.9763352C>A | CA394705837 | GRIN2A | c.4192G>T (p.Asp1398Tyr) c.*3G>T (n.*3G>T) n.3442G>T c.3721G>T (p.Asp1241Tyr) c.*1562G>T (n.*1562G>T) c.3781G>T (p.Asp1261Tyr) n.3488G>T c.4033G>T (p.Asp1345Tyr) c.3934G>T (p.Asp1312Tyr) c.4348G>T (p.Asp1450Tyr) | |
16 | g.9763352C>G | CA394705839 | GRIN2A | c.4192G>C (p.Asp1398His) c.*3G>C (n.*3G>C) n.3442G>C c.3721G>C (p.Asp1241His) c.*1562G>C (n.*1562G>C) c.3781G>C (p.Asp1261His) n.3488G>C c.4033G>C (p.Asp1345His) c.3934G>C (p.Asp1312His) c.4348G>C (p.Asp1450His) | dbSNP |
16 | g.9763352C>T | CA394705841 | GRIN2A | c.4192G>A (p.Asp1398Asn) c.*3G>A (n.*3G>A) n.3442G>A c.3721G>A (p.Asp1241Asn) c.*1562G>A (n.*1562G>A) c.3781G>A (p.Asp1261Asn) n.3488G>A c.4033G>A (p.Asp1345Asn) c.3934G>A (p.Asp1312Asn) c.4348G>A (p.Asp1450Asn) | dbSNP |
16 | g.9763353A= | CA2206692679 | GRIN2A | c.4191T= (p.Asn1397=) c.*2T= (n.*2T=) n.3441T= c.3720T= (p.Asn1240=) c.*1561T= (n.*1561T=) c.3780T= (p.Asn1260=) n.3487T= c.4032T= (p.Asn1344=) c.3933T= (p.Asn1311=) c.4347T= (p.Asn1449=) | |
16 | g.9763353A>C | CA394705843 | GRIN2A | c.4191T>G (p.Asn1397Lys) c.*2T>G (n.*2T>G) n.3441T>G c.3720T>G (p.Asn1240Lys) c.*1561T>G (n.*1561T>G) c.3780T>G (p.Asn1260Lys) n.3487T>G c.4032T>G (p.Asn1344Lys) c.3933T>G (p.Asn1311Lys) c.4347T>G (p.Asn1449Lys) | |
16 | g.9763353A>G | CA493692511 | GRIN2A | c.4191T>C (p.Asn1397=) c.*2T>C (n.*2T>C) n.3441T>C c.3720T>C (p.Asn1240=) c.*1561T>C (n.*1561T>C) c.3780T>C (p.Asn1260=) n.3487T>C c.4032T>C (p.Asn1344=) c.3933T>C (p.Asn1311=) c.4347T>C (p.Asn1449=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763353A>T | CA394705844 | GRIN2A | c.4191T>A (p.Asn1397Lys) c.*2T>A (n.*2T>A) n.3441T>A c.3720T>A (p.Asn1240Lys) c.*1561T>A (n.*1561T>A) c.3780T>A (p.Asn1260Lys) n.3487T>A c.4032T>A (p.Asn1344Lys) c.3933T>A (p.Asn1311Lys) c.4347T>A (p.Asn1449Lys) | dbSNP |
16 | g.9763354T>A | CA394705850 | GRIN2A | c.4190A>T (p.Asn1397Ile) c.*1A>T (n.*1A>T) n.3440A>T c.3719A>T (p.Asn1240Ile) c.*1560A>T (n.*1560A>T) c.3779A>T (p.Asn1260Ile) n.3486A>T c.4031A>T (p.Asn1344Ile) c.3932A>T (p.Asn1311Ile) c.4346A>T (p.Asn1449Ile) | dbSNP |
16 | g.9763354T>C | CA394705847 | GRIN2A | c.4190A>G (p.Asn1397Ser) c.*1A>G (n.*1A>G) n.3440A>G c.3719A>G (p.Asn1240Ser) c.*1560A>G (n.*1560A>G) c.3779A>G (p.Asn1260Ser) n.3486A>G c.4031A>G (p.Asn1344Ser) c.3932A>G (p.Asn1311Ser) c.4346A>G (p.Asn1449Ser) | dbSNP |
16 | g.9763354T>G | CA394705849 | GRIN2A | c.4190A>C (p.Asn1397Thr) c.*1A>C (n.*1A>C) n.3440A>C c.3719A>C (p.Asn1240Thr) c.*1560A>C (n.*1560A>C) c.3779A>C (p.Asn1260Thr) n.3486A>C c.4031A>C (p.Asn1344Thr) c.3932A>C (p.Asn1311Thr) c.4346A>C (p.Asn1449Thr) | dbSNP |
16 | g.9763355T>A | CA394705853 | GRIN2A | c.4189A>T (p.Asn1397Tyr) c.3375A>T (p.Ter1125Cys) n.3439A>T c.3718A>T (p.Asn1240Tyr) c.*1559A>T (n.*1559A>T) c.3778A>T (p.Asn1260Tyr) n.3485A>T c.3435A>T (p.Ter1145Cys) c.3846A>T (p.Ter1282Cys) c.4030A>T (p.Asn1344Tyr) c.3931A>T (p.Asn1311Tyr) c.4345A>T (p.Asn1449Tyr) c.4002A>T (p.Ter1334Cys) | |
16 | g.9763355T>C | CA394705855 | GRIN2A | c.4189A>G (p.Asn1397Asp) c.3375A>G (p.Ter1125Trp) n.3439A>G c.3718A>G (p.Asn1240Asp) c.*1559A>G (n.*1559A>G) c.3778A>G (p.Asn1260Asp) n.3485A>G c.3435A>G (p.Ter1145Trp) c.3846A>G (p.Ter1282Trp) c.4030A>G (p.Asn1344Asp) c.3931A>G (p.Asn1311Asp) c.4345A>G (p.Asn1449Asp) c.4002A>G (p.Ter1334Trp) | dbSNP |
16 | g.9763355T>G | CA394705857 | GRIN2A | c.4189A>C (p.Asn1397His) c.3375A>C (p.Ter1125Cys) n.3439A>C c.3718A>C (p.Asn1240His) c.*1559A>C (n.*1559A>C) c.3778A>C (p.Asn1260His) n.3485A>C c.3435A>C (p.Ter1145Cys) c.3846A>C (p.Ter1282Cys) c.4030A>C (p.Asn1344His) c.3931A>C (p.Asn1311His) c.4345A>C (p.Asn1449His) c.4002A>C (p.Ter1334Cys) | |
16 | g.9763356C>A | CA394705859 | GRIN2A | c.4188G>T (p.Val1396=) c.3374G>T (p.Ter1125Leu) n.3438G>T c.3717G>T (p.Val1239=) c.*1558G>T (n.*1558G>T) c.3777G>T (p.Val1259=) n.3484G>T c.3434G>T (p.Ter1145Leu) c.3845G>T (p.Ter1282Leu) c.4029G>T (p.Val1343=) c.3930G>T (p.Val1310=) c.4344G>T (p.Val1448=) c.4001G>T (p.Ter1334Leu) | |
16 | g.9763356C= | CA2206692680 | GRIN2A | c.4188G= (p.Val1396=) c.3374G= (p.Ter1125=) n.3438G= c.3717G= (p.Val1239=) c.*1558G= (n.*1558G=) c.3777G= (p.Val1259=) n.3484G= c.3434G= (p.Ter1145=) c.3845G= (p.Ter1282=) c.4029G= (p.Val1343=) c.3930G= (p.Val1310=) c.4344G= (p.Val1448=) c.4001G= (p.Ter1334=) | |
16 | g.9763356C>G | CA394705860 | GRIN2A | c.4188G>C (p.Val1396=) c.3374G>C (p.Ter1125Ser) n.3438G>C c.3717G>C (p.Val1239=) c.*1558G>C (n.*1558G>C) c.3777G>C (p.Val1259=) n.3484G>C c.3434G>C (p.Ter1145Ser) c.3845G>C (p.Ter1282Ser) c.4029G>C (p.Val1343=) c.3930G>C (p.Val1310=) c.4344G>C (p.Val1448=) c.4001G>C (p.Ter1334Ser) | dbSNP |
16 | g.9763356C>T | CA7896200 | GRIN2A | c.4188G>A (p.Val1396=) c.3374G>A (p.Ter1125=) n.3438G>A c.3717G>A (p.Val1239=) c.*1558G>A (n.*1558G>A) c.3777G>A (p.Val1259=) n.3484G>A c.3434G>A (p.Ter1145=) c.3845G>A (p.Ter1282=) c.4029G>A (p.Val1343=) c.3930G>A (p.Val1310=) c.4344G>A (p.Val1448=) c.4001G>A (p.Ter1334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763357A>C | CA394705864 | GRIN2A | c.4187T>G (p.Val1396Gly) c.3373T>G (p.Ter1125Gly) n.3437T>G c.3716T>G (p.Val1239Gly) c.*1557T>G (n.*1557T>G) c.3776T>G (p.Val1259Gly) n.3483T>G c.3433T>G (p.Ter1145Gly) c.3844T>G (p.Ter1282Gly) c.4028T>G (p.Val1343Gly) c.3929T>G (p.Val1310Gly) c.4343T>G (p.Val1448Gly) c.4000T>G (p.Ter1334Gly) | |
16 | g.9763357A>G | CA394705867 | GRIN2A | c.4187T>C (p.Val1396Ala) c.3373T>C (p.Ter1125Arg) n.3437T>C c.3716T>C (p.Val1239Ala) c.*1557T>C (n.*1557T>C) c.3776T>C (p.Val1259Ala) n.3483T>C c.3433T>C (p.Ter1145Arg) c.3844T>C (p.Ter1282Arg) c.4028T>C (p.Val1343Ala) c.3929T>C (p.Val1310Ala) c.4343T>C (p.Val1448Ala) c.4000T>C (p.Ter1334Arg) | dbSNP |
16 | g.9763357A>T | CA394705869 | GRIN2A | c.4187T>A (p.Val1396Glu) c.3373T>A (p.Ter1125Arg) n.3437T>A c.3716T>A (p.Val1239Glu) c.*1557T>A (n.*1557T>A) c.3776T>A (p.Val1259Glu) n.3483T>A c.3433T>A (p.Ter1145Arg) c.3844T>A (p.Ter1282Arg) c.4028T>A (p.Val1343Glu) c.3929T>A (p.Val1310Glu) c.4343T>A (p.Val1448Glu) c.4000T>A (p.Ter1334Arg) | dbSNP |
16 | g.9763358C>A | CA394705872 | GRIN2A | c.4186G>T (p.Val1396Leu) c.3372G>T (p.Arg1124=) n.3436G>T c.3715G>T (p.Val1239Leu) c.*1556G>T (n.*1556G>T) c.3775G>T (p.Val1259Leu) n.3482G>T c.3432G>T (p.Arg1144=) c.3843G>T (p.Arg1281=) c.4027G>T (p.Val1343Leu) c.3928G>T (p.Val1310Leu) c.4342G>T (p.Val1448Leu) c.3999G>T (p.Arg1333=) | |
16 | g.9763358C= | CA2206692681 | GRIN2A | c.4186G= (p.Val1396=) c.3372G= (p.Arg1124=) n.3436G= c.3715G= (p.Val1239=) c.*1556G= (n.*1556G=) c.3775G= (p.Val1259=) n.3482G= c.3432G= (p.Arg1144=) c.3843G= (p.Arg1281=) c.4027G= (p.Val1343=) c.3928G= (p.Val1310=) c.4342G= (p.Val1448=) c.3999G= (p.Arg1333=) | |
16 | g.9763358C>G | CA394705874 | GRIN2A | c.4186G>C (p.Val1396Leu) c.3372G>C (p.Arg1124=) n.3436G>C c.3715G>C (p.Val1239Leu) c.*1556G>C (n.*1556G>C) c.3775G>C (p.Val1259Leu) n.3482G>C c.3432G>C (p.Arg1144=) c.3843G>C (p.Arg1281=) c.4027G>C (p.Val1343Leu) c.3928G>C (p.Val1310Leu) c.4342G>C (p.Val1448Leu) c.3999G>C (p.Arg1333=) | dbSNP |
16 | g.9763358C>T | CA394705876 | GRIN2A | c.4186G>A (p.Val1396Met) c.3372G>A (p.Arg1124=) n.3436G>A c.3715G>A (p.Val1239Met) c.*1556G>A (n.*1556G>A) c.3775G>A (p.Val1259Met) n.3482G>A c.3432G>A (p.Arg1144=) c.3843G>A (p.Arg1281=) c.4027G>A (p.Val1343Met) c.3928G>A (p.Val1310Met) c.4342G>A (p.Val1448Met) c.3999G>A (p.Arg1333=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763359C>A | CA394705879 | GRIN2A | c.4185G>T (p.Ala1395=) c.3371G>T (p.Arg1124Leu) n.3435G>T c.3714G>T (p.Ala1238=) c.*1555G>T (n.*1555G>T) c.3774G>T (p.Ala1258=) n.3481G>T c.3431G>T (p.Arg1144Leu) c.3842G>T (p.Arg1281Leu) c.4026G>T (p.Ala1342=) c.3927G>T (p.Ala1309=) c.4341G>T (p.Ala1447=) c.3998G>T (p.Arg1333Leu) | dbSNP gnomAD v4 |
16 | g.9763359C= | CA2206692682 | GRIN2A | c.4185G= (p.Ala1395=) c.3371G= (p.Arg1124=) n.3435G= c.3714G= (p.Ala1238=) c.*1555G= (n.*1555G=) c.3774G= (p.Ala1258=) n.3481G= c.3431G= (p.Arg1144=) c.3842G= (p.Arg1281=) c.4026G= (p.Ala1342=) c.3927G= (p.Ala1309=) c.4341G= (p.Ala1447=) c.3998G= (p.Arg1333=) | |
16 | g.9763359C>G | CA394705878 | GRIN2A | c.4185G>C (p.Ala1395=) c.3371G>C (p.Arg1124Pro) n.3435G>C c.3714G>C (p.Ala1238=) c.*1555G>C (n.*1555G>C) c.3774G>C (p.Ala1258=) n.3481G>C c.3431G>C (p.Arg1144Pro) c.3842G>C (p.Arg1281Pro) c.4026G>C (p.Ala1342=) c.3927G>C (p.Ala1309=) c.4341G>C (p.Ala1447=) c.3998G>C (p.Arg1333Pro) | dbSNP |
16 | g.9763359C>T | CA7896201 | GRIN2A | c.4185G>A (p.Ala1395=) c.3371G>A (p.Arg1124Gln) n.3435G>A c.3714G>A (p.Ala1238=) c.*1555G>A (n.*1555G>A) c.3774G>A (p.Ala1258=) n.3481G>A c.3431G>A (p.Arg1144Gln) c.3842G>A (p.Arg1281Gln) c.4026G>A (p.Ala1342=) c.3927G>A (p.Ala1309=) c.4341G>A (p.Ala1447=) c.3998G>A (p.Arg1333Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9763360G>A | CA7896202 | GRIN2A | c.4184C>T (p.Ala1395Val) c.3370C>T (p.Arg1124Trp) n.3434C>T c.3713C>T (p.Ala1238Val) c.*1554C>T (n.*1554C>T) c.3773C>T (p.Ala1258Val) n.3480C>T c.3430C>T (p.Arg1144Trp) c.3841C>T (p.Arg1281Trp) c.4025C>T (p.Ala1342Val) c.3926C>T (p.Ala1309Val) c.4340C>T (p.Ala1447Val) c.3997C>T (p.Arg1333Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9763360G>C | CA394705880 | GRIN2A | c.4184C>G (p.Ala1395Gly) c.3370C>G (p.Arg1124Gly) n.3434C>G c.3713C>G (p.Ala1238Gly) c.*1554C>G (n.*1554C>G) c.3773C>G (p.Ala1258Gly) n.3480C>G c.3430C>G (p.Arg1144Gly) c.3841C>G (p.Arg1281Gly) c.4025C>G (p.Ala1342Gly) c.3926C>G (p.Ala1309Gly) c.4340C>G (p.Ala1447Gly) c.3997C>G (p.Arg1333Gly) | dbSNP gnomAD v4 |
16 | g.9763360G= | CA2206692683 | GRIN2A | c.4184C= (p.Ala1395=) c.3370C= (p.Arg1124=) n.3434C= c.3713C= (p.Ala1238=) c.*1554C= (n.*1554C=) c.3773C= (p.Ala1258=) n.3480C= c.3430C= (p.Arg1144=) c.3841C= (p.Arg1281=) c.4025C= (p.Ala1342=) c.3926C= (p.Ala1309=) c.4340C= (p.Ala1447=) c.3997C= (p.Arg1333=) | |
16 | g.9763360G>T | CA394705881 | GRIN2A | c.4184C>A (p.Ala1395Glu) c.3370C>A (p.Arg1124=) n.3434C>A c.3713C>A (p.Ala1238Glu) c.*1554C>A (n.*1554C>A) c.3773C>A (p.Ala1258Glu) n.3480C>A c.3430C>A (p.Arg1144=) c.3841C>A (p.Arg1281=) c.4025C>A (p.Ala1342Glu) c.3926C>A (p.Ala1309Glu) c.4340C>A (p.Ala1447Glu) c.3997C>A (p.Arg1333=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.9763361C>A | CA394705882 | GRIN2A | c.4183G>T (p.Ala1395Ser) c.3369G>T (p.Arg1123Ser) n.3433G>T c.3712G>T (p.Ala1238Ser) c.*1553G>T (n.*1553G>T) c.3772G>T (p.Ala1258Ser) n.3479G>T c.3429G>T (p.Arg1143Ser) c.3840G>T (p.Arg1280Ser) c.4024G>T (p.Ala1342Ser) c.3925G>T (p.Ala1309Ser) c.4339G>T (p.Ala1447Ser) c.3996G>T (p.Arg1332Ser) | |
16 | g.9763361C>G | CA394705883 | GRIN2A | c.4183G>C (p.Ala1395Pro) c.3369G>C (p.Arg1123Ser) n.3433G>C c.3712G>C (p.Ala1238Pro) c.*1553G>C (n.*1553G>C) c.3772G>C (p.Ala1258Pro) n.3479G>C c.3429G>C (p.Arg1143Ser) c.3840G>C (p.Arg1280Ser) c.4024G>C (p.Ala1342Pro) c.3925G>C (p.Ala1309Pro) c.4339G>C (p.Ala1447Pro) c.3996G>C (p.Arg1332Ser) | dbSNP |
16 | g.9763361C>T | CA394705884 | GRIN2A | c.4183G>A (p.Ala1395Thr) c.3369G>A (p.Arg1123=) n.3433G>A c.3712G>A (p.Ala1238Thr) c.*1553G>A (n.*1553G>A) c.3772G>A (p.Ala1258Thr) n.3479G>A c.3429G>A (p.Arg1143=) c.3840G>A (p.Arg1280=) c.4024G>A (p.Ala1342Thr) c.3925G>A (p.Ala1309Thr) c.4339G>A (p.Ala1447Thr) c.3996G>A (p.Arg1332=) | ClinVar |
16 | g.9763362C>A | CA394705885 | GRIN2A | c.4182G>T (p.Gln1394His) c.3368G>T (p.Arg1123Met) n.3432G>T c.3711G>T (p.Gln1237His) c.*1552G>T (n.*1552G>T) c.3771G>T (p.Gln1257His) n.3478G>T c.3428G>T (p.Arg1143Met) c.3839G>T (p.Arg1280Met) c.4023G>T (p.Gln1341His) c.3924G>T (p.Gln1308His) c.4338G>T (p.Gln1446His) c.3995G>T (p.Arg1332Met) | |
16 | g.9763362C>G | CA394705886 | GRIN2A | c.4182G>C (p.Gln1394His) c.3368G>C (p.Arg1123Thr) n.3432G>C c.3711G>C (p.Gln1237His) c.*1552G>C (n.*1552G>C) c.3771G>C (p.Gln1257His) n.3478G>C c.3428G>C (p.Arg1143Thr) c.3839G>C (p.Arg1280Thr) c.4023G>C (p.Gln1341His) c.3924G>C (p.Gln1308His) c.4338G>C (p.Gln1446His) c.3995G>C (p.Arg1332Thr) | |
16 | g.9763362C>T | CA394705887 | GRIN2A | c.4182G>A (p.Gln1394=) c.3368G>A (p.Arg1123Lys) n.3432G>A c.3711G>A (p.Gln1237=) c.*1552G>A (n.*1552G>A) c.3771G>A (p.Gln1257=) n.3478G>A c.3428G>A (p.Arg1143Lys) c.3839G>A (p.Arg1280Lys) c.4023G>A (p.Gln1341=) c.3924G>A (p.Gln1308=) c.4338G>A (p.Gln1446=) c.3995G>A (p.Arg1332Lys) | dbSNP gnomAD v4 |
16 | g.9763363T>A | CA394705888 | GRIN2A | c.4181A>T (p.Gln1394Leu) c.3367A>T (p.Arg1123Trp) n.3431A>T c.3710A>T (p.Gln1237Leu) c.*1551A>T (n.*1551A>T) c.3770A>T (p.Gln1257Leu) n.3477A>T c.3427A>T (p.Arg1143Trp) c.3838A>T (p.Arg1280Trp) c.4022A>T (p.Gln1341Leu) c.3923A>T (p.Gln1308Leu) c.4337A>T (p.Gln1446Leu) c.3994A>T (p.Arg1332Trp) | COSMIC |
16 | g.9763363T>C | CA394705889 | GRIN2A | c.4181A>G (p.Gln1394Arg) c.3367A>G (p.Arg1123Gly) n.3431A>G c.3710A>G (p.Gln1237Arg) c.*1551A>G (n.*1551A>G) c.3770A>G (p.Gln1257Arg) n.3477A>G c.3427A>G (p.Arg1143Gly) c.3838A>G (p.Arg1280Gly) c.4022A>G (p.Gln1341Arg) c.3923A>G (p.Gln1308Arg) c.4337A>G (p.Gln1446Arg) c.3994A>G (p.Arg1332Gly) | |
16 | g.9763363T>G | CA394705890 | GRIN2A | c.4181A>C (p.Gln1394Pro) c.3367A>C (p.Arg1123=) n.3431A>C c.3710A>C (p.Gln1237Pro) c.*1551A>C (n.*1551A>C) c.3770A>C (p.Gln1257Pro) n.3477A>C c.3427A>C (p.Arg1143=) c.3838A>C (p.Arg1280=) c.4022A>C (p.Gln1341Pro) c.3923A>C (p.Gln1308Pro) c.4337A>C (p.Gln1446Pro) c.3994A>C (p.Arg1332=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9763363T= | CA2206692684 | GRIN2A | c.4181A= (p.Gln1394=) c.3367A= (p.Arg1123=) n.3431A= c.3710A= (p.Gln1237=) c.*1551A= (n.*1551A=) c.3770A= (p.Gln1257=) n.3477A= c.3427A= (p.Arg1143=) c.3838A= (p.Arg1280=) c.4022A= (p.Gln1341=) c.3923A= (p.Gln1308=) c.4337A= (p.Gln1446=) c.3994A= (p.Arg1332=) | |
16 | g.9763364G>A | CA394705891 | GRIN2A | c.4180C>T (p.Gln1394Ter) c.3366C>T (p.Pro1122=) n.3430C>T c.3709C>T (p.Gln1237Ter) c.*1550C>T (n.*1550C>T) c.3769C>T (p.Gln1257Ter) n.3476C>T c.3426C>T (p.Pro1142=) c.3837C>T (p.Pro1279=) c.4021C>T (p.Gln1341Ter) c.3922C>T (p.Gln1308Ter) c.4336C>T (p.Gln1446Ter) c.3993C>T (p.Pro1331=) | dbSNP |
16 | g.9763364G>C | CA394705892 | GRIN2A | c.4180C>G (p.Gln1394Glu) c.3366C>G (p.Pro1122=) n.3430C>G c.3709C>G (p.Gln1237Glu) c.*1550C>G (n.*1550C>G) c.3769C>G (p.Gln1257Glu) n.3476C>G c.3426C>G (p.Pro1142=) c.3837C>G (p.Pro1279=) c.4021C>G (p.Gln1341Glu) c.3922C>G (p.Gln1308Glu) c.4336C>G (p.Gln1446Glu) c.3993C>G (p.Pro1331=) | dbSNP |
16 | g.9763364G= | CA2206692685 | GRIN2A | c.4180C= (p.Gln1394=) c.3366C= (p.Pro1122=) n.3430C= c.3709C= (p.Gln1237=) c.*1550C= (n.*1550C=) c.3769C= (p.Gln1257=) n.3476C= c.3426C= (p.Pro1142=) c.3837C= (p.Pro1279=) c.4021C= (p.Gln1341=) c.3922C= (p.Gln1308=) c.4336C= (p.Gln1446=) c.3993C= (p.Pro1331=) | |
16 | g.9763364G>T | CA394705893 | GRIN2A | c.4180C>A (p.Gln1394Lys) c.3366C>A (p.Pro1122=) n.3430C>A c.3709C>A (p.Gln1237Lys) c.*1550C>A (n.*1550C>A) c.3769C>A (p.Gln1257Lys) n.3476C>A c.3426C>A (p.Pro1142=) c.3837C>A (p.Pro1279=) c.4021C>A (p.Gln1341Lys) c.3922C>A (p.Gln1308Lys) c.4336C>A (p.Gln1446Lys) c.3993C>A (p.Pro1331=) | dbSNP |
16 | g.9763365G>A | CA394705896 | GRIN2A | c.4179C>T (p.Ser1393=) c.3365C>T (p.Pro1122Leu) n.3429C>T c.3708C>T (p.Ser1236=) c.*1549C>T (n.*1549C>T) c.3768C>T (p.Ser1256=) n.3475C>T c.3425C>T (p.Pro1142Leu) c.3836C>T (p.Pro1279Leu) c.4020C>T (p.Ser1340=) c.3921C>T (p.Ser1307=) c.4335C>T (p.Ser1445=) c.3992C>T (p.Pro1331Leu) | dbSNP |
16 | g.9763365G>C | CA394705895 | GRIN2A | c.4179C>G (p.Ser1393=) c.3365C>G (p.Pro1122Arg) n.3429C>G c.3708C>G (p.Ser1236=) c.*1549C>G (n.*1549C>G) c.3768C>G (p.Ser1256=) n.3475C>G c.3425C>G (p.Pro1142Arg) c.3836C>G (p.Pro1279Arg) c.4020C>G (p.Ser1340=) c.3921C>G (p.Ser1307=) c.4335C>G (p.Ser1445=) c.3992C>G (p.Pro1331Arg) | dbSNP |
16 | g.9763365G>T | CA394705894 | GRIN2A | c.4179C>A (p.Ser1393=) c.3365C>A (p.Pro1122His) n.3429C>A c.3708C>A (p.Ser1236=) c.*1549C>A (n.*1549C>A) c.3768C>A (p.Ser1256=) n.3475C>A c.3425C>A (p.Pro1142His) c.3836C>A (p.Pro1279His) c.4020C>A (p.Ser1340=) c.3921C>A (p.Ser1307=) c.4335C>A (p.Ser1445=) c.3992C>A (p.Pro1331His) | dbSNP COSMIC |
16 | g.9763366G>A | CA394705897 | GRIN2A | c.4178C>T (p.Ser1393Phe) c.3364C>T (p.Pro1122Ser) n.3428C>T c.3707C>T (p.Ser1236Phe) c.*1548C>T (n.*1548C>T) c.3767C>T (p.Ser1256Phe) n.3474C>T c.3424C>T (p.Pro1142Ser) c.3835C>T (p.Pro1279Ser) c.4019C>T (p.Ser1340Phe) c.3920C>T (p.Ser1307Phe) c.4334C>T (p.Ser1445Phe) c.3991C>T (p.Pro1331Ser) | dbSNP COSMIC |
16 | g.9763366G>C | CA394705898 | GRIN2A | c.4178C>G (p.Ser1393Cys) c.3364C>G (p.Pro1122Ala) n.3428C>G c.3707C>G (p.Ser1236Cys) c.*1548C>G (n.*1548C>G) c.3767C>G (p.Ser1256Cys) n.3474C>G c.3424C>G (p.Pro1142Ala) c.3835C>G (p.Pro1279Ala) c.4019C>G (p.Ser1340Cys) c.3920C>G (p.Ser1307Cys) c.4334C>G (p.Ser1445Cys) c.3991C>G (p.Pro1331Ala) | dbSNP |
16 | g.9763366G>T | CA394705899 | GRIN2A | c.4178C>A (p.Ser1393Tyr) c.3364C>A (p.Pro1122Thr) n.3428C>A c.3707C>A (p.Ser1236Tyr) c.*1548C>A (n.*1548C>A) c.3767C>A (p.Ser1256Tyr) n.3474C>A c.3424C>A (p.Pro1142Thr) c.3835C>A (p.Pro1279Thr) c.4019C>A (p.Ser1340Tyr) c.3920C>A (p.Ser1307Tyr) c.4334C>A (p.Ser1445Tyr) c.3991C>A (p.Pro1331Thr) | dbSNP |
16 | g.9763367A>C | CA394705900 | GRIN2A | c.4177T>G (p.Ser1393Ala) c.3363T>G (p.His1121Gln) n.3427T>G c.3706T>G (p.Ser1236Ala) c.*1547T>G (n.*1547T>G) c.3766T>G (p.Ser1256Ala) n.3473T>G c.3423T>G (p.His1141Gln) c.3834T>G (p.His1278Gln) c.4018T>G (p.Ser1340Ala) c.3919T>G (p.Ser1307Ala) c.4333T>G (p.Ser1445Ala) c.3990T>G (p.His1330Gln) | |
16 | g.9763367A>G | CA394705901 | GRIN2A | c.4177T>C (p.Ser1393Pro) c.3363T>C (p.His1121=) n.3427T>C c.3706T>C (p.Ser1236Pro) c.*1547T>C (n.*1547T>C) c.3766T>C (p.Ser1256Pro) n.3473T>C c.3423T>C (p.His1141=) c.3834T>C (p.His1278=) c.4018T>C (p.Ser1340Pro) c.3919T>C (p.Ser1307Pro) c.4333T>C (p.Ser1445Pro) c.3990T>C (p.His1330=) | dbSNP |
16 | g.9763367A>T | CA394705902 | GRIN2A | c.4177T>A (p.Ser1393Thr) c.3363T>A (p.His1121Gln) n.3427T>A c.3706T>A (p.Ser1236Thr) c.*1547T>A (n.*1547T>A) c.3766T>A (p.Ser1256Thr) n.3473T>A c.3423T>A (p.His1141Gln) c.3834T>A (p.His1278Gln) c.4018T>A (p.Ser1340Thr) c.3919T>A (p.Ser1307Thr) c.4333T>A (p.Ser1445Thr) c.3990T>A (p.His1330Gln) | dbSNP |
16 | g.9763368T>A | CA394705903 | GRIN2A | c.4176A>T (p.Pro1392=) c.3362A>T (p.His1121Leu) n.3426A>T c.3705A>T (p.Pro1235=) c.*1546A>T (n.*1546A>T) c.3765A>T (p.Pro1255=) n.3472A>T c.3422A>T (p.His1141Leu) c.3833A>T (p.His1278Leu) c.4017A>T (p.Pro1339=) c.3918A>T (p.Pro1306=) c.4332A>T (p.Pro1444=) c.3989A>T (p.His1330Leu) | dbSNP |
16 | g.9763368T>C | CA10605820 | GRIN2A | c.4176A>G (p.Pro1392=) c.3362A>G (p.His1121Arg) n.3426A>G c.3705A>G (p.Pro1235=) c.*1546A>G (n.*1546A>G) c.3765A>G (p.Pro1255=) n.3472A>G c.3422A>G (p.His1141Arg) c.3833A>G (p.His1278Arg) c.4017A>G (p.Pro1339=) c.3918A>G (p.Pro1306=) c.4332A>G (p.Pro1444=) c.3989A>G (p.His1330Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9763368T>G | CA394705904 | GRIN2A | c.4176A>C (p.Pro1392=) c.3362A>C (p.His1121Pro) n.3426A>C c.3705A>C (p.Pro1235=) c.*1546A>C (n.*1546A>C) c.3765A>C (p.Pro1255=) n.3472A>C c.3422A>C (p.His1141Pro) c.3833A>C (p.His1278Pro) c.4017A>C (p.Pro1339=) c.3918A>C (p.Pro1306=) c.4332A>C (p.Pro1444=) c.3989A>C (p.His1330Pro) | gnomAD v4 |
16 | g.9763368T= | CA2206692686 | GRIN2A | c.4176A= (p.Pro1392=) c.3362A= (p.His1121=) n.3426A= c.3705A= (p.Pro1235=) c.*1546A= (n.*1546A=) c.3765A= (p.Pro1255=) n.3472A= c.3422A= (p.His1141=) c.3833A= (p.His1278=) c.4017A= (p.Pro1339=) c.3918A= (p.Pro1306=) c.4332A= (p.Pro1444=) c.3989A= (p.His1330=) | |
16 | g.9763369G>A | CA394705905 | GRIN2A | c.4175C>T (p.Pro1392Leu) c.3361C>T (p.His1121Tyr) n.3425C>T c.3704C>T (p.Pro1235Leu) c.*1545C>T (n.*1545C>T) c.3764C>T (p.Pro1255Leu) n.3471C>T c.3421C>T (p.His1141Tyr) c.3832C>T (p.His1278Tyr) c.4016C>T (p.Pro1339Leu) c.3917C>T (p.Pro1306Leu) c.4331C>T (p.Pro1444Leu) c.3988C>T (p.His1330Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.9763369G>C | CA394705906 | GRIN2A | c.4175C>G (p.Pro1392Arg) c.3361C>G (p.His1121Asp) n.3425C>G c.3704C>G (p.Pro1235Arg) c.*1545C>G (n.*1545C>G) c.3764C>G (p.Pro1255Arg) n.3471C>G c.3421C>G (p.His1141Asp) c.3832C>G (p.His1278Asp) c.4016C>G (p.Pro1339Arg) c.3917C>G (p.Pro1306Arg) c.4331C>G (p.Pro1444Arg) c.3988C>G (p.His1330Asp) | dbSNP |
16 | g.9763369G= | CA2206692687 | GRIN2A | c.4175C= (p.Pro1392=) c.3361C= (p.His1121=) n.3425C= c.3704C= (p.Pro1235=) c.*1545C= (n.*1545C=) c.3764C= (p.Pro1255=) n.3471C= c.3421C= (p.His1141=) c.3832C= (p.His1278=) c.4016C= (p.Pro1339=) c.3917C= (p.Pro1306=) c.4331C= (p.Pro1444=) c.3988C= (p.His1330=) | |
16 | g.9763369G>T | CA394705907 | GRIN2A | c.4175C>A (p.Pro1392Gln) c.3361C>A (p.His1121Asn) n.3425C>A c.3704C>A (p.Pro1235Gln) c.*1545C>A (n.*1545C>A) c.3764C>A (p.Pro1255Gln) n.3471C>A c.3421C>A (p.His1141Asn) c.3832C>A (p.His1278Asn) c.4016C>A (p.Pro1339Gln) c.3917C>A (p.Pro1306Gln) c.4331C>A (p.Pro1444Gln) c.3988C>A (p.His1330Asn) | |
16 | g.9763370G>A | CA394705910 | GRIN2A | c.4174C>T (p.Pro1392Ser) c.3360C>T (p.Cys1120=) n.3424C>T c.3703C>T (p.Pro1235Ser) c.*1544C>T (n.*1544C>T) c.3763C>T (p.Pro1255Ser) n.3470C>T c.3420C>T (p.Cys1140=) c.3831C>T (p.Cys1277=) c.4015C>T (p.Pro1339Ser) c.3916C>T (p.Pro1306Ser) c.4330C>T (p.Pro1444Ser) c.3987C>T (p.Cys1329=) | dbSNP gnomAD v4 |
16 | g.9763370G>C | CA394705909 | GRIN2A | c.4174C>G (p.Pro1392Ala) c.3360C>G (p.Cys1120Trp) n.3424C>G c.3703C>G (p.Pro1235Ala) c.*1544C>G (n.*1544C>G) c.3763C>G (p.Pro1255Ala) n.3470C>G c.3420C>G (p.Cys1140Trp) c.3831C>G (p.Cys1277Trp) c.4015C>G (p.Pro1339Ala) c.3916C>G (p.Pro1306Ala) c.4330C>G (p.Pro1444Ala) c.3987C>G (p.Cys1329Trp) | dbSNP |
16 | g.9763370G>T | CA394705908 | GRIN2A | c.4174C>A (p.Pro1392Thr) c.3360C>A (p.Cys1120Ter) n.3424C>A c.3703C>A (p.Pro1235Thr) c.*1544C>A (n.*1544C>A) c.3763C>A (p.Pro1255Thr) n.3470C>A c.3420C>A (p.Cys1140Ter) c.3831C>A (p.Cys1277Ter) c.4015C>A (p.Pro1339Thr) c.3916C>A (p.Pro1306Thr) c.4330C>A (p.Pro1444Thr) c.3987C>A (p.Cys1329Ter) | dbSNP |
16 | g.9763371C>A | CA394705911 | GRIN2A | c.4173G>T (p.Leu1391Phe) c.3359G>T (p.Cys1120Phe) n.3423G>T c.3702G>T (p.Leu1234Phe) c.*1543G>T (n.*1543G>T) c.3762G>T (p.Leu1254Phe) n.3469G>T c.3419G>T (p.Cys1140Phe) c.3830G>T (p.Cys1277Phe) c.4014G>T (p.Leu1338Phe) c.3915G>T (p.Leu1305Phe) c.4329G>T (p.Leu1443Phe) c.3986G>T (p.Cys1329Phe) | dbSNP |
16 | g.9763371C>G | CA394705912 | GRIN2A | c.4173G>C (p.Leu1391Phe) c.3359G>C (p.Cys1120Ser) n.3423G>C c.3702G>C (p.Leu1234Phe) c.*1543G>C (n.*1543G>C) c.3762G>C (p.Leu1254Phe) n.3469G>C c.3419G>C (p.Cys1140Ser) c.3830G>C (p.Cys1277Ser) c.4014G>C (p.Leu1338Phe) c.3915G>C (p.Leu1305Phe) c.4329G>C (p.Leu1443Phe) c.3986G>C (p.Cys1329Ser) | dbSNP gnomAD v4 |
16 | g.9763371C>T | CA394705913 | GRIN2A | c.4173G>A (p.Leu1391=) c.3359G>A (p.Cys1120Tyr) n.3423G>A c.3702G>A (p.Leu1234=) c.*1543G>A (n.*1543G>A) c.3762G>A (p.Leu1254=) n.3469G>A c.3419G>A (p.Cys1140Tyr) c.3830G>A (p.Cys1277Tyr) c.4014G>A (p.Leu1338=) c.3915G>A (p.Leu1305=) c.4329G>A (p.Leu1443=) c.3986G>A (p.Cys1329Tyr) | dbSNP |
16 | g.9763372A= | CA2206692688 | GRIN2A | c.4172T= (p.Leu1391=) c.3358T= (p.Cys1120=) n.3422T= c.3701T= (p.Leu1234=) c.*1542T= (n.*1542T=) c.3761T= (p.Leu1254=) n.3468T= c.3418T= (p.Cys1140=) c.3829T= (p.Cys1277=) c.4013T= (p.Leu1338=) c.3914T= (p.Leu1305=) c.4328T= (p.Leu1443=) c.3985T= (p.Cys1329=) | |
16 | g.9763372A>C | CA394705914 | GRIN2A | c.4172T>G (p.Leu1391Trp) c.3358T>G (p.Cys1120Gly) n.3422T>G c.3701T>G (p.Leu1234Trp) c.*1542T>G (n.*1542T>G) c.3761T>G (p.Leu1254Trp) n.3468T>G c.3418T>G (p.Cys1140Gly) c.3829T>G (p.Cys1277Gly) c.4013T>G (p.Leu1338Trp) c.3914T>G (p.Leu1305Trp) c.4328T>G (p.Leu1443Trp) c.3985T>G (p.Cys1329Gly) | |
16 | g.9763372A>G | CA394705915 | GRIN2A | c.4172T>C (p.Leu1391Ser) c.3358T>C (p.Cys1120Arg) n.3422T>C c.3701T>C (p.Leu1234Ser) c.*1542T>C (n.*1542T>C) c.3761T>C (p.Leu1254Ser) n.3468T>C c.3418T>C (p.Cys1140Arg) c.3829T>C (p.Cys1277Arg) c.4013T>C (p.Leu1338Ser) c.3914T>C (p.Leu1305Ser) c.4328T>C (p.Leu1443Ser) c.3985T>C (p.Cys1329Arg) | |
16 | g.9763372A>T | CA394705916 | GRIN2A | c.4172T>A (p.Leu1391Ter) c.3358T>A (p.Cys1120Ser) n.3422T>A c.3701T>A (p.Leu1234Ter) c.*1542T>A (n.*1542T>A) c.3761T>A (p.Leu1254Ter) n.3468T>A c.3418T>A (p.Cys1140Ser) c.3829T>A (p.Cys1277Ser) c.4013T>A (p.Leu1338Ter) c.3914T>A (p.Leu1305Ter) c.4328T>A (p.Leu1443Ter) c.3985T>A (p.Cys1329Ser) | dbSNP |
16 | g.9763373A>C | CA394705918 | GRIN2A | c.4171T>G (p.Leu1391Val) c.3357T>G (p.Arg1119=) n.3421T>G c.3700T>G (p.Leu1234Val) c.*1541T>G (n.*1541T>G) c.3760T>G (p.Leu1254Val) n.3467T>G c.3417T>G (p.Arg1139=) c.3828T>G (p.Arg1276=) c.4012T>G (p.Leu1338Val) c.3913T>G (p.Leu1305Val) c.4327T>G (p.Leu1443Val) c.3984T>G (p.Arg1328=) | dbSNP COSMIC |
16 | g.9763373A>G | CA493692531 | GRIN2A | c.4171T>C (p.Leu1391=) c.3357T>C (p.Arg1119=) n.3421T>C c.3700T>C (p.Leu1234=) c.*1541T>C (n.*1541T>C) c.3760T>C (p.Leu1254=) n.3467T>C c.3417T>C (p.Arg1139=) c.3828T>C (p.Arg1276=) c.4012T>C (p.Leu1338=) c.3913T>C (p.Leu1305=) c.4327T>C (p.Leu1443=) c.3984T>C (p.Arg1328=) | dbSNP |
16 | g.9763373A>T | CA394705917 | GRIN2A | c.4171T>A (p.Leu1391Met) c.3357T>A (p.Arg1119=) n.3421T>A c.3700T>A (p.Leu1234Met) c.*1541T>A (n.*1541T>A) c.3760T>A (p.Leu1254Met) n.3467T>A c.3417T>A (p.Arg1139=) c.3828T>A (p.Arg1276=) c.4012T>A (p.Leu1338Met) c.3913T>A (p.Leu1305Met) c.4327T>A (p.Leu1443Met) c.3984T>A (p.Arg1328=) | dbSNP |
16 | g.9763374C>A | CA394705919 | GRIN2A | c.4170G>T (p.Ser1390=) c.3356G>T (p.Arg1119Leu) n.3420G>T c.3699G>T (p.Ser1233=) c.*1540G>T (n.*1540G>T) c.3759G>T (p.Ser1253=) n.3466G>T c.3416G>T (p.Arg1139Leu) c.3827G>T (p.Arg1276Leu) c.4011G>T (p.Ser1337=) c.3912G>T (p.Ser1304=) c.4326G>T (p.Ser1442=) c.3983G>T (p.Arg1328Leu) | dbSNP gnomAD v4 |
16 | g.9763374C= | CA2206692689 | GRIN2A | c.4170G= (p.Ser1390=) c.3356G= (p.Arg1119=) n.3420G= c.3699G= (p.Ser1233=) c.*1540G= (n.*1540G=) c.3759G= (p.Ser1253=) n.3466G= c.3416G= (p.Arg1139=) c.3827G= (p.Arg1276=) c.4011G= (p.Ser1337=) c.3912G= (p.Ser1304=) c.4326G= (p.Ser1442=) c.3983G= (p.Arg1328=) | |
16 | g.9763374C>G | CA394705920 | GRIN2A | c.4170G>C (p.Ser1390=) c.3356G>C (p.Arg1119Pro) n.3420G>C c.3699G>C (p.Ser1233=) c.*1540G>C (n.*1540G>C) c.3759G>C (p.Ser1253=) n.3466G>C c.3416G>C (p.Arg1139Pro) c.3827G>C (p.Arg1276Pro) c.4011G>C (p.Ser1337=) c.3912G>C (p.Ser1304=) c.4326G>C (p.Ser1442=) c.3983G>C (p.Arg1328Pro) | dbSNP |
16 | g.9763374C>T | CA16607154 | GRIN2A | c.4170G>A (p.Ser1390=) c.3356G>A (p.Arg1119His) n.3420G>A c.3699G>A (p.Ser1233=) c.*1540G>A (n.*1540G>A) c.3759G>A (p.Ser1253=) n.3466G>A c.3416G>A (p.Arg1139His) c.3827G>A (p.Arg1276His) c.4011G>A (p.Ser1337=) c.3912G>A (p.Ser1304=) c.4326G>A (p.Ser1442=) c.3983G>A (p.Arg1328His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9763375G>A | CA277536018 | GRIN2A | c.4169C>T (p.Ser1390Leu) c.3355C>T (p.Arg1119Cys) n.3419C>T c.3698C>T (p.Ser1233Leu) c.*1539C>T (n.*1539C>T) c.3758C>T (p.Ser1253Leu) n.3465C>T c.3415C>T (p.Arg1139Cys) c.3826C>T (p.Arg1276Cys) c.4010C>T (p.Ser1337Leu) c.3911C>T (p.Ser1304Leu) c.4325C>T (p.Ser1442Leu) c.3982C>T (p.Arg1328Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9763375G>C | CA7896203 | GRIN2A | c.4169C>G (p.Ser1390Trp) c.3355C>G (p.Arg1119Gly) n.3419C>G c.3698C>G (p.Ser1233Trp) c.*1539C>G (n.*1539C>G) c.3758C>G (p.Ser1253Trp) n.3465C>G c.3415C>G (p.Arg1139Gly) c.3826C>G (p.Arg1276Gly) c.4010C>G (p.Ser1337Trp) c.3911C>G (p.Ser1304Trp) c.4325C>G (p.Ser1442Trp) c.3982C>G (p.Arg1328Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763375G= | CA2206692690 | GRIN2A | c.4169C= (p.Ser1390=) c.3355C= (p.Arg1119=) n.3419C= c.3698C= (p.Ser1233=) c.*1539C= (n.*1539C=) c.3758C= (p.Ser1253=) n.3465C= c.3415C= (p.Arg1139=) c.3826C= (p.Arg1276=) c.4010C= (p.Ser1337=) c.3911C= (p.Ser1304=) c.4325C= (p.Ser1442=) c.3982C= (p.Arg1328=) | |
16 | g.9763375G>T | CA394705921 | GRIN2A | c.4169C>A (p.Ser1390Ter) c.3355C>A (p.Arg1119Ser) n.3419C>A c.3698C>A (p.Ser1233Ter) c.*1539C>A (n.*1539C>A) c.3758C>A (p.Ser1253Ter) n.3465C>A c.3415C>A (p.Arg1139Ser) c.3826C>A (p.Arg1276Ser) c.4010C>A (p.Ser1337Ter) c.3911C>A (p.Ser1304Ter) c.4325C>A (p.Ser1442Ter) c.3982C>A (p.Arg1328Ser) | dbSNP |
16 | g.9763376A= | CA2206692691 | GRIN2A | c.4168T= (p.Ser1390=) c.3354T= (p.Thr1118=) n.3418T= c.3697T= (p.Ser1233=) c.*1538T= (n.*1538T=) c.3757T= (p.Ser1253=) n.3464T= c.3414T= (p.Thr1138=) c.3825T= (p.Thr1275=) c.4009T= (p.Ser1337=) c.3910T= (p.Ser1304=) c.4324T= (p.Ser1442=) c.3981T= (p.Thr1327=) | |
16 | g.9763376A>C | CA394705922 | GRIN2A | c.4168T>G (p.Ser1390Ala) c.3354T>G (p.Thr1118=) n.3418T>G c.3697T>G (p.Ser1233Ala) c.*1538T>G (n.*1538T>G) c.3757T>G (p.Ser1253Ala) n.3464T>G c.3414T>G (p.Thr1138=) c.3825T>G (p.Thr1275=) c.4009T>G (p.Ser1337Ala) c.3910T>G (p.Ser1304Ala) c.4324T>G (p.Ser1442Ala) c.3981T>G (p.Thr1327=) | COSMIC |
16 | g.9763376A>G | CA394705924 | GRIN2A | c.4168T>C (p.Ser1390Pro) c.3354T>C (p.Thr1118=) n.3418T>C c.3697T>C (p.Ser1233Pro) c.*1538T>C (n.*1538T>C) c.3757T>C (p.Ser1253Pro) n.3464T>C c.3414T>C (p.Thr1138=) c.3825T>C (p.Thr1275=) c.4009T>C (p.Ser1337Pro) c.3910T>C (p.Ser1304Pro) c.4324T>C (p.Ser1442Pro) c.3981T>C (p.Thr1327=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9763376A>T | CA394705923 | GRIN2A | c.4168T>A (p.Ser1390Thr) c.3354T>A (p.Thr1118=) n.3418T>A c.3697T>A (p.Ser1233Thr) c.*1538T>A (n.*1538T>A) c.3757T>A (p.Ser1253Thr) n.3464T>A c.3414T>A (p.Thr1138=) c.3825T>A (p.Thr1275=) c.4009T>A (p.Ser1337Thr) c.3910T>A (p.Ser1304Thr) c.4324T>A (p.Ser1442Thr) c.3981T>A (p.Thr1327=) | dbSNP |
16 | g.9763377G>A | CA7896204 | GRIN2A | c.4167C>T (p.His1389=) c.3353C>T (p.Thr1118Ile) n.3417C>T c.3696C>T (p.His1232=) c.*1537C>T (n.*1537C>T) c.3756C>T (p.His1252=) n.3463C>T c.3413C>T (p.Thr1138Ile) c.3824C>T (p.Thr1275Ile) c.4008C>T (p.His1336=) c.3909C>T (p.His1303=) c.4323C>T (p.His1441=) c.3980C>T (p.Thr1327Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9763377G>C | CA394705925 | GRIN2A | c.4167C>G (p.His1389Gln) c.3353C>G (p.Thr1118Ser) n.3417C>G c.3696C>G (p.His1232Gln) c.*1537C>G (n.*1537C>G) c.3756C>G (p.His1252Gln) n.3463C>G c.3413C>G (p.Thr1138Ser) c.3824C>G (p.Thr1275Ser) c.4008C>G (p.His1336Gln) c.3909C>G (p.His1303Gln) c.4323C>G (p.His1441Gln) c.3980C>G (p.Thr1327Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.9763377G= | CA2206692692 | GRIN2A | c.4167C= (p.His1389=) c.3353C= (p.Thr1118=) n.3417C= c.3696C= (p.His1232=) c.*1537C= (n.*1537C=) c.3756C= (p.His1252=) n.3463C= c.3413C= (p.Thr1138=) c.3824C= (p.Thr1275=) c.4008C= (p.His1336=) c.3909C= (p.His1303=) c.4323C= (p.His1441=) c.3980C= (p.Thr1327=) | |
16 | g.9763377G>T | CA394705926 | GRIN2A | c.4167C>A (p.His1389Gln) c.3353C>A (p.Thr1118Asn) n.3417C>A c.3696C>A (p.His1232Gln) c.*1537C>A (n.*1537C>A) c.3756C>A (p.His1252Gln) n.3463C>A c.3413C>A (p.Thr1138Asn) c.3824C>A (p.Thr1275Asn) c.4008C>A (p.His1336Gln) c.3909C>A (p.His1303Gln) c.4323C>A (p.His1441Gln) c.3980C>A (p.Thr1327Asn) | dbSNP |
16 | g.9763378T>A | CA394705927 | GRIN2A | c.4166A>T (p.His1389Leu) c.3352A>T (p.Thr1118Ser) n.3416A>T c.3695A>T (p.His1232Leu) c.*1536A>T (n.*1536A>T) c.3755A>T (p.His1252Leu) n.3462A>T c.3412A>T (p.Thr1138Ser) c.3823A>T (p.Thr1275Ser) c.4007A>T (p.His1336Leu) c.3908A>T (p.His1303Leu) c.4322A>T (p.His1441Leu) c.3979A>T (p.Thr1327Ser) | dbSNP |
16 | g.9763378T>C | CA394705928 | GRIN2A | c.4166A>G (p.His1389Arg) c.3352A>G (p.Thr1118Ala) n.3416A>G c.3695A>G (p.His1232Arg) c.*1536A>G (n.*1536A>G) c.3755A>G (p.His1252Arg) n.3462A>G c.3412A>G (p.Thr1138Ala) c.3823A>G (p.Thr1275Ala) c.4007A>G (p.His1336Arg) c.3908A>G (p.His1303Arg) c.4322A>G (p.His1441Arg) c.3979A>G (p.Thr1327Ala) | gnomAD v4 |
16 | g.9763378T>G | CA394705929 | GRIN2A | c.4166A>C (p.His1389Pro) c.3352A>C (p.Thr1118Pro) n.3416A>C c.3695A>C (p.His1232Pro) c.*1536A>C (n.*1536A>C) c.3755A>C (p.His1252Pro) n.3462A>C c.3412A>C (p.Thr1138Pro) c.3823A>C (p.Thr1275Pro) c.4007A>C (p.His1336Pro) c.3908A>C (p.His1303Pro) c.4322A>C (p.His1441Pro) c.3979A>C (p.Thr1327Pro) | dbSNP |
16 | g.9763378dup | CA2631674848 | GRIN2A | c.4166dup (p.His1389GlnfsTer10) c.3352dup (p.Thr1118AsnfsTer?) n.3416dup c.3695dup (p.His1232GlnfsTer10) c.*1536dup (n.*1536dup) c.3755dup (p.His1252GlnfsTer10) n.3462dup c.3412dup (p.Thr1138AsnfsTer?) c.3823dup (p.Thr1275AsnfsTer?) c.4007dup (p.His1336GlnfsTer10) c.3908dup (p.His1303GlnfsTer10) c.4322dup (p.His1441GlnfsTer10) c.3979dup (p.Thr1327AsnfsTer?) | gnomAD v4 |
16 | g.9763379G>A | CA394705930 | GRIN2A | c.4165C>T (p.His1389Tyr) c.3351C>T (p.Asn1117=) n.3415C>T c.3694C>T (p.His1232Tyr) c.*1535C>T (n.*1535C>T) c.3754C>T (p.His1252Tyr) n.3461C>T c.3411C>T (p.Asn1137=) c.3822C>T (p.Asn1274=) c.4006C>T (p.His1336Tyr) c.3907C>T (p.His1303Tyr) c.4321C>T (p.His1441Tyr) c.3978C>T (p.Asn1326=) | ClinVar dbSNP |
16 | g.9763379G>C | CA394705931 | GRIN2A | c.4165C>G (p.His1389Asp) c.3351C>G (p.Asn1117Lys) n.3415C>G c.3694C>G (p.His1232Asp) c.*1535C>G (n.*1535C>G) c.3754C>G (p.His1252Asp) n.3461C>G c.3411C>G (p.Asn1137Lys) c.3822C>G (p.Asn1274Lys) c.4006C>G (p.His1336Asp) c.3907C>G (p.His1303Asp) c.4321C>G (p.His1441Asp) c.3978C>G (p.Asn1326Lys) | dbSNP |
16 | g.9763379G>T | CA394705932 | GRIN2A | c.4165C>A (p.His1389Asn) c.3351C>A (p.Asn1117Lys) n.3415C>A c.3694C>A (p.His1232Asn) c.*1535C>A (n.*1535C>A) c.3754C>A (p.His1252Asn) n.3461C>A c.3411C>A (p.Asn1137Lys) c.3822C>A (p.Asn1274Lys) c.4006C>A (p.His1336Asn) c.3907C>A (p.His1303Asn) c.4321C>A (p.His1441Asn) c.3978C>A (p.Asn1326Lys) | dbSNP |
16 | g.9763380T>A | CA394705933 | GRIN2A | c.4164A>T (p.Lys1388Asn) c.3350A>T (p.Asn1117Ile) n.3414A>T c.3693A>T (p.Lys1231Asn) c.*1534A>T (n.*1534A>T) c.3753A>T (p.Lys1251Asn) n.3460A>T c.3410A>T (p.Asn1137Ile) c.3821A>T (p.Asn1274Ile) c.4005A>T (p.Lys1335Asn) c.3906A>T (p.Lys1302Asn) c.4320A>T (p.Lys1440Asn) c.3977A>T (p.Asn1326Ile) | dbSNP |
16 | g.9763380T>C | CA394705934 | GRIN2A | c.4164A>G (p.Lys1388=) c.3350A>G (p.Asn1117Ser) n.3414A>G c.3693A>G (p.Lys1231=) c.*1534A>G (n.*1534A>G) c.3753A>G (p.Lys1251=) n.3460A>G c.3410A>G (p.Asn1137Ser) c.3821A>G (p.Asn1274Ser) c.4005A>G (p.Lys1335=) c.3906A>G (p.Lys1302=) c.4320A>G (p.Lys1440=) c.3977A>G (p.Asn1326Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.9763380T>G | CA394705935 | GRIN2A | c.4164A>C (p.Lys1388Asn) c.3350A>C (p.Asn1117Thr) n.3414A>C c.3693A>C (p.Lys1231Asn) c.*1534A>C (n.*1534A>C) c.3753A>C (p.Lys1251Asn) n.3460A>C c.3410A>C (p.Asn1137Thr) c.3821A>C (p.Asn1274Thr) c.4005A>C (p.Lys1335Asn) c.3906A>C (p.Lys1302Asn) c.4320A>C (p.Lys1440Asn) c.3977A>C (p.Asn1326Thr) | dbSNP |
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 |