| 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.9764520A= | CA2206693281 | GRIN2A | c.3024T= (p.Ser1008=) c.2553T= (p.Ser851=) n.2617T= c.*394T= (n.*394T=) c.2613T= (p.Ser871=) n.2663T= c.2865T= (p.Ser955=) c.2766T= (p.Ser922=) c.3180T= (p.Ser1060=) | |
| 16 | g.9764520A>C | CA493693407 | GRIN2A | c.3024T>G (p.Ser1008=) c.2553T>G (p.Ser851=) n.2617T>G c.*394T>G (n.*394T>G) c.2613T>G (p.Ser871=) n.2663T>G c.2865T>G (p.Ser955=) c.2766T>G (p.Ser922=) c.3180T>G (p.Ser1060=) | |
| 16 | g.9764520A>G | CA493693408 | GRIN2A | c.3024T>C (p.Ser1008=) c.2553T>C (p.Ser851=) n.2617T>C c.*394T>C (n.*394T>C) c.2613T>C (p.Ser871=) n.2663T>C c.2865T>C (p.Ser955=) c.2766T>C (p.Ser922=) c.3180T>C (p.Ser1060=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764520A>T | CA493693409 | GRIN2A | c.3024T>A (p.Ser1008=) c.2553T>A (p.Ser851=) n.2617T>A c.*394T>A (n.*394T>A) c.2613T>A (p.Ser871=) n.2663T>A c.2865T>A (p.Ser955=) c.2766T>A (p.Ser922=) c.3180T>A (p.Ser1060=) | |
| 16 | g.9764521G>A | CA394708829 | GRIN2A | c.3023C>T (p.Ser1008Phe) c.2552C>T (p.Ser851Phe) n.2616C>T c.*393C>T (n.*393C>T) c.2612C>T (p.Ser871Phe) n.2662C>T c.2864C>T (p.Ser955Phe) c.2765C>T (p.Ser922Phe) c.3179C>T (p.Ser1060Phe) | |
| 16 | g.9764521G>C | CA394708830 | GRIN2A | c.3023C>G (p.Ser1008Cys) c.2552C>G (p.Ser851Cys) n.2616C>G c.*393C>G (n.*393C>G) c.2612C>G (p.Ser871Cys) n.2662C>G c.2864C>G (p.Ser955Cys) c.2765C>G (p.Ser922Cys) c.3179C>G (p.Ser1060Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764521G= | CA2206693282 | GRIN2A | c.3023C= (p.Ser1008=) c.2552C= (p.Ser851=) n.2616C= c.*393C= (n.*393C=) c.2612C= (p.Ser871=) n.2662C= c.2864C= (p.Ser955=) c.2765C= (p.Ser922=) c.3179C= (p.Ser1060=) | |
| 16 | g.9764521G>T | CA394708831 | GRIN2A | c.3023C>A (p.Ser1008Tyr) c.2552C>A (p.Ser851Tyr) n.2616C>A c.*393C>A (n.*393C>A) c.2612C>A (p.Ser871Tyr) n.2662C>A c.2864C>A (p.Ser955Tyr) c.2765C>A (p.Ser922Tyr) c.3179C>A (p.Ser1060Tyr) | |
| 16 | g.9764522A>C | CA394708832 | GRIN2A | c.3022T>G (p.Ser1008Ala) c.2551T>G (p.Ser851Ala) n.2615T>G c.*392T>G (n.*392T>G) c.2611T>G (p.Ser871Ala) n.2661T>G c.2863T>G (p.Ser955Ala) c.2764T>G (p.Ser922Ala) c.3178T>G (p.Ser1060Ala) | |
| 16 | g.9764522A>G | CA394708833 | GRIN2A | c.3022T>C (p.Ser1008Pro) c.2551T>C (p.Ser851Pro) n.2615T>C c.*392T>C (n.*392T>C) c.2611T>C (p.Ser871Pro) n.2661T>C c.2863T>C (p.Ser955Pro) c.2764T>C (p.Ser922Pro) c.3178T>C (p.Ser1060Pro) | dbSNP |
| 16 | g.9764522A>T | CA394708834 | GRIN2A | c.3022T>A (p.Ser1008Thr) c.2551T>A (p.Ser851Thr) n.2615T>A c.*392T>A (n.*392T>A) c.2611T>A (p.Ser871Thr) n.2661T>A c.2863T>A (p.Ser955Thr) c.2764T>A (p.Ser922Thr) c.3178T>A (p.Ser1060Thr) | dbSNP |
| 16 | g.9764523G>A | CA493693411 | GRIN2A | c.3021C>T (p.Asn1007=) c.2550C>T (p.Asn850=) n.2614C>T c.*391C>T (n.*391C>T) c.2610C>T (p.Asn870=) n.2660C>T c.2862C>T (p.Asn954=) c.2763C>T (p.Asn921=) c.3177C>T (p.Asn1059=) | gnomAD v4 |
| 16 | g.9764523G>C | CA394708835 | GRIN2A | c.3021C>G (p.Asn1007Lys) c.2550C>G (p.Asn850Lys) n.2614C>G c.*391C>G (n.*391C>G) c.2610C>G (p.Asn870Lys) n.2660C>G c.2862C>G (p.Asn954Lys) c.2763C>G (p.Asn921Lys) c.3177C>G (p.Asn1059Lys) | |
| 16 | g.9764523G>T | CA394708836 | GRIN2A | c.3021C>A (p.Asn1007Lys) c.2550C>A (p.Asn850Lys) n.2614C>A c.*391C>A (n.*391C>A) c.2610C>A (p.Asn870Lys) n.2660C>A c.2862C>A (p.Asn954Lys) c.2763C>A (p.Asn921Lys) c.3177C>A (p.Asn1059Lys) | |
| 16 | g.9764524T>A | CA394708839 | GRIN2A | c.3020A>T (p.Asn1007Ile) c.2549A>T (p.Asn850Ile) n.2613A>T c.*390A>T (n.*390A>T) c.2609A>T (p.Asn870Ile) n.2659A>T c.2861A>T (p.Asn954Ile) c.2762A>T (p.Asn921Ile) c.3176A>T (p.Asn1059Ile) | |
| 16 | g.9764524T>C | CA394708838 | GRIN2A | c.3020A>G (p.Asn1007Ser) c.2549A>G (p.Asn850Ser) n.2613A>G c.*390A>G (n.*390A>G) c.2609A>G (p.Asn870Ser) n.2659A>G c.2861A>G (p.Asn954Ser) c.2762A>G (p.Asn921Ser) c.3176A>G (p.Asn1059Ser) | |
| 16 | g.9764524T>G | CA394708837 | GRIN2A | c.3020A>C (p.Asn1007Thr) c.2549A>C (p.Asn850Thr) n.2613A>C c.*390A>C (n.*390A>C) c.2609A>C (p.Asn870Thr) n.2659A>C c.2861A>C (p.Asn954Thr) c.2762A>C (p.Asn921Thr) c.3176A>C (p.Asn1059Thr) | |
| 16 | g.9764525T>A | CA394708840 | GRIN2A | c.3019A>T (p.Asn1007Tyr) c.2548A>T (p.Asn850Tyr) n.2612A>T c.*389A>T (n.*389A>T) c.2608A>T (p.Asn870Tyr) n.2658A>T c.2860A>T (p.Asn954Tyr) c.2761A>T (p.Asn921Tyr) c.3175A>T (p.Asn1059Tyr) | |
| 16 | g.9764525T>C | CA394708842 | GRIN2A | c.3019A>G (p.Asn1007Asp) c.2548A>G (p.Asn850Asp) n.2612A>G c.*389A>G (n.*389A>G) c.2608A>G (p.Asn870Asp) n.2658A>G c.2860A>G (p.Asn954Asp) c.2761A>G (p.Asn921Asp) c.3175A>G (p.Asn1059Asp) | |
| 16 | g.9764525T>G | CA394708841 | GRIN2A | c.3019A>C (p.Asn1007His) c.2548A>C (p.Asn850His) n.2612A>C c.*389A>C (n.*389A>C) c.2608A>C (p.Asn870His) n.2658A>C c.2860A>C (p.Asn954His) c.2761A>C (p.Asn921His) c.3175A>C (p.Asn1059His) | |
| 16 | g.9764526C>A | CA493693414 | GRIN2A | c.3018G>T (p.Ala1006=) c.2547G>T (p.Ala849=) n.2611G>T c.*388G>T (n.*388G>T) c.2607G>T (p.Ala869=) n.2657G>T c.2859G>T (p.Ala953=) c.2760G>T (p.Ala920=) c.3174G>T (p.Ala1058=) | gnomAD v4 |
| 16 | g.9764526C= | CA2206693283 | GRIN2A | c.3018G= (p.Ala1006=) c.2547G= (p.Ala849=) n.2611G= c.*388G= (n.*388G=) c.2607G= (p.Ala869=) n.2657G= c.2859G= (p.Ala953=) c.2760G= (p.Ala920=) c.3174G= (p.Ala1058=) | |
| 16 | g.9764526C>G | CA493693413 | GRIN2A | c.3018G>C (p.Ala1006=) c.2547G>C (p.Ala849=) n.2611G>C c.*388G>C (n.*388G>C) c.2607G>C (p.Ala869=) n.2657G>C c.2859G>C (p.Ala953=) c.2760G>C (p.Ala920=) c.3174G>C (p.Ala1058=) | dbSNP gnomAD v4 |
| 16 | g.9764526C>T | CA7896386 | GRIN2A | c.3018G>A (p.Ala1006=) c.2547G>A (p.Ala849=) n.2611G>A c.*388G>A (n.*388G>A) c.2607G>A (p.Ala869=) n.2657G>A c.2859G>A (p.Ala953=) c.2760G>A (p.Ala920=) c.3174G>A (p.Ala1058=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764527G>A | CA7896387 | GRIN2A | c.3017C>T (p.Ala1006Val) c.2546C>T (p.Ala849Val) n.2610C>T c.*387C>T (n.*387C>T) c.2606C>T (p.Ala869Val) n.2656C>T c.2858C>T (p.Ala953Val) c.2759C>T (p.Ala920Val) c.3173C>T (p.Ala1058Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764527G>C | CA394708843 | GRIN2A | c.3017C>G (p.Ala1006Gly) c.2546C>G (p.Ala849Gly) n.2610C>G c.*387C>G (n.*387C>G) c.2606C>G (p.Ala869Gly) n.2656C>G c.2858C>G (p.Ala953Gly) c.2759C>G (p.Ala920Gly) c.3173C>G (p.Ala1058Gly) | |
| 16 | g.9764527G= | CA2206693284 | GRIN2A | c.3017C= (p.Ala1006=) c.2546C= (p.Ala849=) n.2610C= c.*387C= (n.*387C=) c.2606C= (p.Ala869=) n.2656C= c.2858C= (p.Ala953=) c.2759C= (p.Ala920=) c.3173C= (p.Ala1058=) | |
| 16 | g.9764527G>T | CA394708844 | GRIN2A | c.3017C>A (p.Ala1006Glu) c.2546C>A (p.Ala849Glu) n.2610C>A c.*387C>A (n.*387C>A) c.2606C>A (p.Ala869Glu) n.2656C>A c.2858C>A (p.Ala953Glu) c.2759C>A (p.Ala920Glu) c.3173C>A (p.Ala1058Glu) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764528C>A | CA394708845 | GRIN2A | c.3016G>T (p.Ala1006Ser) c.2545G>T (p.Ala849Ser) n.2609G>T c.*386G>T (n.*386G>T) c.2605G>T (p.Ala869Ser) n.2655G>T c.2857G>T (p.Ala953Ser) c.2758G>T (p.Ala920Ser) c.3172G>T (p.Ala1058Ser) | |
| 16 | g.9764528C>G | CA394708846 | GRIN2A | c.3016G>C (p.Ala1006Pro) c.2545G>C (p.Ala849Pro) n.2609G>C c.*386G>C (n.*386G>C) c.2605G>C (p.Ala869Pro) n.2655G>C c.2857G>C (p.Ala953Pro) c.2758G>C (p.Ala920Pro) c.3172G>C (p.Ala1058Pro) | |
| 16 | g.9764528C>T | CA394708847 | GRIN2A | c.3016G>A (p.Ala1006Thr) c.2545G>A (p.Ala849Thr) n.2609G>A c.*386G>A (n.*386G>A) c.2605G>A (p.Ala869Thr) n.2655G>A c.2857G>A (p.Ala953Thr) c.2758G>A (p.Ala920Thr) c.3172G>A (p.Ala1058Thr) | dbSNP |
| 16 | g.9764529T>A | CA394708848 | GRIN2A | c.3015A>T (p.Lys1005Asn) c.2544A>T (p.Lys848Asn) n.2608A>T c.*385A>T (n.*385A>T) c.2604A>T (p.Lys868Asn) n.2654A>T c.2856A>T (p.Lys952Asn) c.2757A>T (p.Lys919Asn) c.3171A>T (p.Lys1057Asn) | |
| 16 | g.9764529T>C | CA493693418 | GRIN2A | c.3015A>G (p.Lys1005=) c.2544A>G (p.Lys848=) n.2608A>G c.*385A>G (n.*385A>G) c.2604A>G (p.Lys868=) n.2654A>G c.2856A>G (p.Lys952=) c.2757A>G (p.Lys919=) c.3171A>G (p.Lys1057=) | |
| 16 | g.9764529T>G | CA394708849 | GRIN2A | c.3015A>C (p.Lys1005Asn) c.2544A>C (p.Lys848Asn) n.2608A>C c.*385A>C (n.*385A>C) c.2604A>C (p.Lys868Asn) n.2654A>C c.2856A>C (p.Lys952Asn) c.2757A>C (p.Lys919Asn) c.3171A>C (p.Lys1057Asn) | |
| 16 | g.9764530T>A | CA394708850 | GRIN2A | c.3014A>T (p.Lys1005Ile) c.2543A>T (p.Lys848Ile) n.2607A>T c.*384A>T (n.*384A>T) c.2603A>T (p.Lys868Ile) n.2653A>T c.2855A>T (p.Lys952Ile) c.2756A>T (p.Lys919Ile) c.3170A>T (p.Lys1057Ile) | |
| 16 | g.9764530T>C | CA394708851 | GRIN2A | c.3014A>G (p.Lys1005Arg) c.2543A>G (p.Lys848Arg) n.2607A>G c.*384A>G (n.*384A>G) c.2603A>G (p.Lys868Arg) n.2653A>G c.2855A>G (p.Lys952Arg) c.2756A>G (p.Lys919Arg) c.3170A>G (p.Lys1057Arg) | gnomAD v4 |
| 16 | g.9764530T>G | CA394708852 | GRIN2A | c.3014A>C (p.Lys1005Thr) c.2543A>C (p.Lys848Thr) n.2607A>C c.*384A>C (n.*384A>C) c.2603A>C (p.Lys868Thr) n.2653A>C c.2855A>C (p.Lys952Thr) c.2756A>C (p.Lys919Thr) c.3170A>C (p.Lys1057Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764530T= | CA2206693285 | GRIN2A | c.3014A= (p.Lys1005=) c.2543A= (p.Lys848=) n.2607A= c.*384A= (n.*384A=) c.2603A= (p.Lys868=) n.2653A= c.2855A= (p.Lys952=) c.2756A= (p.Lys919=) c.3170A= (p.Lys1057=) | |
| 16 | g.9764531T>A | CA394708855 | GRIN2A | c.3013A>T (p.Lys1005Ter) c.2542A>T (p.Lys848Ter) n.2606A>T c.*383A>T (n.*383A>T) c.2602A>T (p.Lys868Ter) n.2652A>T c.2854A>T (p.Lys952Ter) c.2755A>T (p.Lys919Ter) c.3169A>T (p.Lys1057Ter) | dbSNP |
| 16 | g.9764531T>C | CA394708853 | GRIN2A | c.3013A>G (p.Lys1005Glu) c.2542A>G (p.Lys848Glu) n.2606A>G c.*383A>G (n.*383A>G) c.2602A>G (p.Lys868Glu) n.2652A>G c.2854A>G (p.Lys952Glu) c.2755A>G (p.Lys919Glu) c.3169A>G (p.Lys1057Glu) | gnomAD v4 |
| 16 | g.9764531T>G | CA394708854 | GRIN2A | c.3013A>C (p.Lys1005Gln) c.2542A>C (p.Lys848Gln) n.2606A>C c.*383A>C (n.*383A>C) c.2602A>C (p.Lys868Gln) n.2652A>C c.2854A>C (p.Lys952Gln) c.2755A>C (p.Lys919Gln) c.3169A>C (p.Lys1057Gln) | |
| 16 | g.9764531T= | CA2206693286 | GRIN2A | c.3013A= (p.Lys1005=) c.2542A= (p.Lys848=) n.2606A= c.*383A= (n.*383A=) c.2602A= (p.Lys868=) n.2652A= c.2854A= (p.Lys952=) c.2755A= (p.Lys919=) c.3169A= (p.Lys1057=) | |
| 16 | g.9764532G>A | CA493693421 | GRIN2A | c.3012C>T (p.Ser1004=) c.2541C>T (p.Ser847=) n.2605C>T c.*382C>T (n.*382C>T) c.2601C>T (p.Ser867=) n.2651C>T c.2853C>T (p.Ser951=) c.2754C>T (p.Ser918=) c.3168C>T (p.Ser1056=) | gnomAD v4 |
| 16 | g.9764532G>C | CA493693423 | GRIN2A | c.3012C>G (p.Ser1004=) c.2541C>G (p.Ser847=) n.2605C>G c.*382C>G (n.*382C>G) c.2601C>G (p.Ser867=) n.2651C>G c.2853C>G (p.Ser951=) c.2754C>G (p.Ser918=) c.3168C>G (p.Ser1056=) | |
| 16 | g.9764532G>T | CA493693424 | GRIN2A | c.3012C>A (p.Ser1004=) c.2541C>A (p.Ser847=) n.2605C>A c.*382C>A (n.*382C>A) c.2601C>A (p.Ser867=) n.2651C>A c.2853C>A (p.Ser951=) c.2754C>A (p.Ser918=) c.3168C>A (p.Ser1056=) | |
| 16 | g.9764533G>A | CA394708856 | GRIN2A | c.3011C>T (p.Ser1004Phe) c.2540C>T (p.Ser847Phe) n.2604C>T c.*381C>T (n.*381C>T) c.2600C>T (p.Ser867Phe) n.2650C>T c.2852C>T (p.Ser951Phe) c.2753C>T (p.Ser918Phe) c.3167C>T (p.Ser1056Phe) | dbSNP |
| 16 | g.9764533G>C | CA394708857 | GRIN2A | c.3011C>G (p.Ser1004Cys) c.2540C>G (p.Ser847Cys) n.2604C>G c.*381C>G (n.*381C>G) c.2600C>G (p.Ser867Cys) n.2650C>G c.2852C>G (p.Ser951Cys) c.2753C>G (p.Ser918Cys) c.3167C>G (p.Ser1056Cys) | COSMIC |
| 16 | g.9764533G>T | CA394708858 | GRIN2A | c.3011C>A (p.Ser1004Tyr) c.2540C>A (p.Ser847Tyr) n.2604C>A c.*381C>A (n.*381C>A) c.2600C>A (p.Ser867Tyr) n.2650C>A c.2852C>A (p.Ser951Tyr) c.2753C>A (p.Ser918Tyr) c.3167C>A (p.Ser1056Tyr) | COSMIC |
| 16 | g.9764534A>C | CA394708859 | GRIN2A | c.3010T>G (p.Ser1004Ala) c.2539T>G (p.Ser847Ala) n.2603T>G c.*380T>G (n.*380T>G) c.2599T>G (p.Ser867Ala) n.2649T>G c.2851T>G (p.Ser951Ala) c.2752T>G (p.Ser918Ala) c.3166T>G (p.Ser1056Ala) | gnomAD v4 |
| 16 | g.9764534A>G | CA394708860 | GRIN2A | c.3010T>C (p.Ser1004Pro) c.2539T>C (p.Ser847Pro) n.2603T>C c.*380T>C (n.*380T>C) c.2599T>C (p.Ser867Pro) n.2649T>C c.2851T>C (p.Ser951Pro) c.2752T>C (p.Ser918Pro) c.3166T>C (p.Ser1056Pro) | ClinVar |
| 16 | g.9764534A>T | CA394708861 | GRIN2A | c.3010T>A (p.Ser1004Thr) c.2539T>A (p.Ser847Thr) n.2603T>A c.*380T>A (n.*380T>A) c.2599T>A (p.Ser867Thr) n.2649T>A c.2851T>A (p.Ser951Thr) c.2752T>A (p.Ser918Thr) c.3166T>A (p.Ser1056Thr) | dbSNP |
| 16 | g.9764535T>A | CA394708862 | GRIN2A | c.3009A>T (p.Glu1003Asp) c.2538A>T (p.Glu846Asp) n.2602A>T c.*379A>T (n.*379A>T) c.2598A>T (p.Glu866Asp) n.2648A>T c.2850A>T (p.Glu950Asp) c.2751A>T (p.Glu917Asp) c.3165A>T (p.Glu1055Asp) | |
| 16 | g.9764535T>C | CA493693427 | GRIN2A | c.3009A>G (p.Glu1003=) c.2538A>G (p.Glu846=) n.2602A>G c.*379A>G (n.*379A>G) c.2598A>G (p.Glu866=) n.2648A>G c.2850A>G (p.Glu950=) c.2751A>G (p.Glu917=) c.3165A>G (p.Glu1055=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764535T>G | CA394708863 | GRIN2A | c.3009A>C (p.Glu1003Asp) c.2538A>C (p.Glu846Asp) n.2602A>C c.*379A>C (n.*379A>C) c.2598A>C (p.Glu866Asp) n.2648A>C c.2850A>C (p.Glu950Asp) c.2751A>C (p.Glu917Asp) c.3165A>C (p.Glu1055Asp) | |
| 16 | g.9764535T= | CA2206693287 | GRIN2A | c.3009A= (p.Glu1003=) c.2538A= (p.Glu846=) n.2602A= c.*379A= (n.*379A=) c.2598A= (p.Glu866=) n.2648A= c.2850A= (p.Glu950=) c.2751A= (p.Glu917=) c.3165A= (p.Glu1055=) | |
| 16 | g.9764536T>A | CA394708864 | GRIN2A | c.3008A>T (p.Glu1003Val) c.2537A>T (p.Glu846Val) n.2601A>T c.*378A>T (n.*378A>T) c.2597A>T (p.Glu866Val) n.2647A>T c.2849A>T (p.Glu950Val) c.2750A>T (p.Glu917Val) c.3164A>T (p.Glu1055Val) | |
| 16 | g.9764536T>C | CA394708865 | GRIN2A | c.3008A>G (p.Glu1003Gly) c.2537A>G (p.Glu846Gly) n.2601A>G c.*378A>G (n.*378A>G) c.2597A>G (p.Glu866Gly) n.2647A>G c.2849A>G (p.Glu950Gly) c.2750A>G (p.Glu917Gly) c.3164A>G (p.Glu1055Gly) | gnomAD v4 |
| 16 | g.9764536T>G | CA394708866 | GRIN2A | c.3008A>C (p.Glu1003Ala) c.2537A>C (p.Glu846Ala) n.2601A>C c.*378A>C (n.*378A>C) c.2597A>C (p.Glu866Ala) n.2647A>C c.2849A>C (p.Glu950Ala) c.2750A>C (p.Glu917Ala) c.3164A>C (p.Glu1055Ala) | |
| 16 | g.9764537C>A | CA394708869 | GRIN2A | c.3007G>T (p.Glu1003Ter) c.2536G>T (p.Glu846Ter) n.2600G>T c.*377G>T (n.*377G>T) c.2596G>T (p.Glu866Ter) n.2646G>T c.2848G>T (p.Glu950Ter) c.2749G>T (p.Glu917Ter) c.3163G>T (p.Glu1055Ter) | dbSNP COSMIC |
| 16 | g.9764537C= | CA2206693288 | GRIN2A | c.3007G= (p.Glu1003=) c.2536G= (p.Glu846=) n.2600G= c.*377G= (n.*377G=) c.2596G= (p.Glu866=) n.2646G= c.2848G= (p.Glu950=) c.2749G= (p.Glu917=) c.3163G= (p.Glu1055=) | |
| 16 | g.9764537C>G | CA394708868 | GRIN2A | c.3007G>C (p.Glu1003Gln) c.2536G>C (p.Glu846Gln) n.2600G>C c.*377G>C (n.*377G>C) c.2596G>C (p.Glu866Gln) n.2646G>C c.2848G>C (p.Glu950Gln) c.2749G>C (p.Glu917Gln) c.3163G>C (p.Glu1055Gln) | |
| 16 | g.9764537C>T | CA394708867 | GRIN2A | c.3007G>A (p.Glu1003Lys) c.2536G>A (p.Glu846Lys) n.2600G>A c.*377G>A (n.*377G>A) c.2596G>A (p.Glu866Lys) n.2646G>A c.2848G>A (p.Glu950Lys) c.2749G>A (p.Glu917Lys) c.3163G>A (p.Glu1055Lys) | dbSNP gnomAD v4 |
| 16 | g.9764538T>A | CA493693429 | GRIN2A | c.3006A>T (p.Thr1002=) c.2535A>T (p.Thr845=) n.2599A>T c.*376A>T (n.*376A>T) c.2595A>T (p.Thr865=) n.2645A>T c.2847A>T (p.Thr949=) c.2748A>T (p.Thr916=) c.3162A>T (p.Thr1054=) | dbSNP |
| 16 | g.9764538T>C | CA277538104 | GRIN2A | c.3006A>G (p.Thr1002=) c.2535A>G (p.Thr845=) n.2599A>G c.*376A>G (n.*376A>G) c.2595A>G (p.Thr865=) n.2645A>G c.2847A>G (p.Thr949=) c.2748A>G (p.Thr916=) c.3162A>G (p.Thr1054=) | dbSNP |
| 16 | g.9764538T>G | CA493693430 | GRIN2A | c.3006A>C (p.Thr1002=) c.2535A>C (p.Thr845=) n.2599A>C c.*376A>C (n.*376A>C) c.2595A>C (p.Thr865=) n.2645A>C c.2847A>C (p.Thr949=) c.2748A>C (p.Thr916=) c.3162A>C (p.Thr1054=) | |
| 16 | g.9764538T= | CA2206693289 | GRIN2A | c.3006A= (p.Thr1002=) c.2535A= (p.Thr845=) n.2599A= c.*376A= (n.*376A=) c.2595A= (p.Thr865=) n.2645A= c.2847A= (p.Thr949=) c.2748A= (p.Thr916=) c.3162A= (p.Thr1054=) | |
| 16 | g.9764539G>A | CA394708870 | GRIN2A | c.3005C>T (p.Thr1002Ile) c.2534C>T (p.Thr845Ile) n.2598C>T c.*375C>T (n.*375C>T) c.2594C>T (p.Thr865Ile) n.2644C>T c.2846C>T (p.Thr949Ile) c.2747C>T (p.Thr916Ile) c.3161C>T (p.Thr1054Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764539G>C | CA394708871 | GRIN2A | c.3005C>G (p.Thr1002Arg) c.2534C>G (p.Thr845Arg) n.2598C>G c.*375C>G (n.*375C>G) c.2594C>G (p.Thr865Arg) n.2644C>G c.2846C>G (p.Thr949Arg) c.2747C>G (p.Thr916Arg) c.3161C>G (p.Thr1054Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764539G= | CA2206693290 | GRIN2A | c.3005C= (p.Thr1002=) c.2534C= (p.Thr845=) n.2598C= c.*375C= (n.*375C=) c.2594C= (p.Thr865=) n.2644C= c.2846C= (p.Thr949=) c.2747C= (p.Thr916=) c.3161C= (p.Thr1054=) | |
| 16 | g.9764539G>T | CA7896388 | GRIN2A | c.3005C>A (p.Thr1002Lys) c.2534C>A (p.Thr845Lys) n.2598C>A c.*375C>A (n.*375C>A) c.2594C>A (p.Thr865Lys) n.2644C>A c.2846C>A (p.Thr949Lys) c.2747C>A (p.Thr916Lys) c.3161C>A (p.Thr1054Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764540T>A | CA394708872 | GRIN2A | c.3004A>T (p.Thr1002Ser) c.2533A>T (p.Thr845Ser) n.2597A>T c.*374A>T (n.*374A>T) c.2593A>T (p.Thr865Ser) n.2643A>T c.2845A>T (p.Thr949Ser) c.2746A>T (p.Thr916Ser) c.3160A>T (p.Thr1054Ser) | |
| 16 | g.9764540T>C | CA394708873 | GRIN2A | c.3004A>G (p.Thr1002Ala) c.2533A>G (p.Thr845Ala) n.2597A>G c.*374A>G (n.*374A>G) c.2593A>G (p.Thr865Ala) n.2643A>G c.2845A>G (p.Thr949Ala) c.2746A>G (p.Thr916Ala) c.3160A>G (p.Thr1054Ala) | |
| 16 | g.9764540T>G | CA394708874 | GRIN2A | c.3004A>C (p.Thr1002Pro) c.2533A>C (p.Thr845Pro) n.2597A>C c.*374A>C (n.*374A>C) c.2593A>C (p.Thr865Pro) n.2643A>C c.2845A>C (p.Thr949Pro) c.2746A>C (p.Thr916Pro) c.3160A>C (p.Thr1054Pro) | |
| 16 | g.9764541G>A | CA7896389 | GRIN2A | c.3003C>T (p.Ser1001=) c.2532C>T (p.Ser844=) n.2596C>T c.*373C>T (n.*373C>T) c.2592C>T (p.Ser864=) n.2642C>T c.2844C>T (p.Ser948=) c.2745C>T (p.Ser915=) c.3159C>T (p.Ser1053=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764541G>C | CA394708875 | GRIN2A | c.3003C>G (p.Ser1001Arg) c.2532C>G (p.Ser844Arg) n.2596C>G c.*373C>G (n.*373C>G) c.2592C>G (p.Ser864Arg) n.2642C>G c.2844C>G (p.Ser948Arg) c.2745C>G (p.Ser915Arg) c.3159C>G (p.Ser1053Arg) | |
| 16 | g.9764541G= | CA2206693291 | GRIN2A | c.3003C= (p.Ser1001=) c.2532C= (p.Ser844=) n.2596C= c.*373C= (n.*373C=) c.2592C= (p.Ser864=) n.2642C= c.2844C= (p.Ser948=) c.2745C= (p.Ser915=) c.3159C= (p.Ser1053=) | |
| 16 | g.9764541G>T | CA394708876 | GRIN2A | c.3003C>A (p.Ser1001Arg) c.2532C>A (p.Ser844Arg) n.2596C>A c.*373C>A (n.*373C>A) c.2592C>A (p.Ser864Arg) n.2642C>A c.2844C>A (p.Ser948Arg) c.2745C>A (p.Ser915Arg) c.3159C>A (p.Ser1053Arg) | |
| 16 | g.9764542C>A | CA394708877 | GRIN2A | c.3002G>T (p.Ser1001Ile) c.2531G>T (p.Ser844Ile) n.2595G>T c.*372G>T (n.*372G>T) c.2591G>T (p.Ser864Ile) n.2641G>T c.2843G>T (p.Ser948Ile) c.2744G>T (p.Ser915Ile) c.3158G>T (p.Ser1053Ile) | |
| 16 | g.9764542C>G | CA394708878 | GRIN2A | c.3002G>C (p.Ser1001Thr) c.2531G>C (p.Ser844Thr) n.2595G>C c.*372G>C (n.*372G>C) c.2591G>C (p.Ser864Thr) n.2641G>C c.2843G>C (p.Ser948Thr) c.2744G>C (p.Ser915Thr) c.3158G>C (p.Ser1053Thr) | |
| 16 | g.9764542C>T | CA394708879 | GRIN2A | c.3002G>A (p.Ser1001Asn) c.2531G>A (p.Ser844Asn) n.2595G>A c.*372G>A (n.*372G>A) c.2591G>A (p.Ser864Asn) n.2641G>A c.2843G>A (p.Ser948Asn) c.2744G>A (p.Ser915Asn) c.3158G>A (p.Ser1053Asn) | gnomAD v4 |
| 16 | g.9764543T>A | CA394708881 | GRIN2A | c.3001A>T (p.Ser1001Cys) c.2530A>T (p.Ser844Cys) n.2594A>T c.*371A>T (n.*371A>T) c.2590A>T (p.Ser864Cys) n.2640A>T c.2842A>T (p.Ser948Cys) c.2743A>T (p.Ser915Cys) c.3157A>T (p.Ser1053Cys) | |
| 16 | g.9764543T>C | CA394708882 | GRIN2A | c.3001A>G (p.Ser1001Gly) c.2530A>G (p.Ser844Gly) n.2594A>G c.*371A>G (n.*371A>G) c.2590A>G (p.Ser864Gly) n.2640A>G c.2842A>G (p.Ser948Gly) c.2743A>G (p.Ser915Gly) c.3157A>G (p.Ser1053Gly) | |
| 16 | g.9764543T>G | CA394708880 | GRIN2A | c.3001A>C (p.Ser1001Arg) c.2530A>C (p.Ser844Arg) n.2594A>C c.*371A>C (n.*371A>C) c.2590A>C (p.Ser864Arg) n.2640A>C c.2842A>C (p.Ser948Arg) c.2743A>C (p.Ser915Arg) c.3157A>C (p.Ser1053Arg) | |
| 16 | g.9764544C>A | CA493693434 | GRIN2A | c.3000G>T (p.Val1000=) c.2529G>T (p.Val843=) n.2593G>T c.*370G>T (n.*370G>T) c.2589G>T (p.Val863=) n.2639G>T c.2841G>T (p.Val947=) c.2742G>T (p.Val914=) c.3156G>T (p.Val1052=) | dbSNP |
| 16 | g.9764544C>G | CA493693435 | GRIN2A | c.3000G>C (p.Val1000=) c.2529G>C (p.Val843=) n.2593G>C c.*370G>C (n.*370G>C) c.2589G>C (p.Val863=) n.2639G>C c.2841G>C (p.Val947=) c.2742G>C (p.Val914=) c.3156G>C (p.Val1052=) | gnomAD v4 |
| 16 | g.9764544C>T | CA493693436 | GRIN2A | c.3000G>A (p.Val1000=) c.2529G>A (p.Val843=) n.2593G>A c.*370G>A (n.*370G>A) c.2589G>A (p.Val863=) n.2639G>A c.2841G>A (p.Val947=) c.2742G>A (p.Val914=) c.3156G>A (p.Val1052=) | ClinVar COSMIC |
| 16 | g.9764545A>C | CA394708884 | GRIN2A | c.2999T>G (p.Val1000Gly) c.2528T>G (p.Val843Gly) n.2592T>G c.*369T>G (n.*369T>G) c.2588T>G (p.Val863Gly) n.2638T>G c.2840T>G (p.Val947Gly) c.2741T>G (p.Val914Gly) c.3155T>G (p.Val1052Gly) | |
| 16 | g.9764545A>G | CA394708886 | GRIN2A | c.2999T>C (p.Val1000Ala) c.2528T>C (p.Val843Ala) n.2592T>C c.*369T>C (n.*369T>C) c.2588T>C (p.Val863Ala) n.2638T>C c.2840T>C (p.Val947Ala) c.2741T>C (p.Val914Ala) c.3155T>C (p.Val1052Ala) | |
| 16 | g.9764545A>T | CA394708887 | GRIN2A | c.2999T>A (p.Val1000Glu) c.2528T>A (p.Val843Glu) n.2592T>A c.*369T>A (n.*369T>A) c.2588T>A (p.Val863Glu) n.2638T>A c.2840T>A (p.Val947Glu) c.2741T>A (p.Val914Glu) c.3155T>A (p.Val1052Glu) | |
| 16 | g.9764546C>A | CA394708889 | GRIN2A | c.2998G>T (p.Val1000Leu) c.2527G>T (p.Val843Leu) n.2591G>T c.*368G>T (n.*368G>T) c.2587G>T (p.Val863Leu) n.2637G>T c.2839G>T (p.Val947Leu) c.2740G>T (p.Val914Leu) c.3154G>T (p.Val1052Leu) | |
| 16 | g.9764546C= | CA2206693292 | GRIN2A | c.2998G= (p.Val1000=) c.2527G= (p.Val843=) n.2591G= c.*368G= (n.*368G=) c.2587G= (p.Val863=) n.2637G= c.2839G= (p.Val947=) c.2740G= (p.Val914=) c.3154G= (p.Val1052=) | |
| 16 | g.9764546C>G | CA394708890 | GRIN2A | c.2998G>C (p.Val1000Leu) c.2527G>C (p.Val843Leu) n.2591G>C c.*368G>C (n.*368G>C) c.2587G>C (p.Val863Leu) n.2637G>C c.2839G>C (p.Val947Leu) c.2740G>C (p.Val914Leu) c.3154G>C (p.Val1052Leu) | ClinVar gnomAD v4 |
| 16 | g.9764546C>T | CA394708891 | GRIN2A | c.2998G>A (p.Val1000Met) c.2527G>A (p.Val843Met) n.2591G>A c.*368G>A (n.*368G>A) c.2587G>A (p.Val863Met) n.2637G>A c.2839G>A (p.Val947Met) c.2740G>A (p.Val914Met) c.3154G>A (p.Val1052Met) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764547G>A | CA7896390 | GRIN2A | c.2997C>T (p.Ala999=) c.2526C>T (p.Ala842=) n.2590C>T c.*367C>T (n.*367C>T) c.2586C>T (p.Ala862=) n.2636C>T c.2838C>T (p.Ala946=) c.2739C>T (p.Ala913=) c.3153C>T (p.Ala1051=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764547G>C | CA7896391 | GRIN2A | c.2997C>G (p.Ala999=) c.2526C>G (p.Ala842=) n.2590C>G c.*367C>G (n.*367C>G) c.2586C>G (p.Ala862=) n.2636C>G c.2838C>G (p.Ala946=) c.2739C>G (p.Ala913=) c.3153C>G (p.Ala1051=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764547G= | CA2206693293 | GRIN2A | c.2997C= (p.Ala999=) c.2526C= (p.Ala842=) n.2590C= c.*367C= (n.*367C=) c.2586C= (p.Ala862=) n.2636C= c.2838C= (p.Ala946=) c.2739C= (p.Ala913=) c.3153C= (p.Ala1051=) | |
| 16 | g.9764547G>T | CA493693441 | GRIN2A | c.2997C>A (p.Ala999=) c.2526C>A (p.Ala842=) n.2590C>A c.*367C>A (n.*367C>A) c.2586C>A (p.Ala862=) n.2636C>A c.2838C>A (p.Ala946=) c.2739C>A (p.Ala913=) c.3153C>A (p.Ala1051=) | |
| 16 | g.9764548G>A | CA394708892 | GRIN2A | c.2996C>T (p.Ala999Val) c.2525C>T (p.Ala842Val) n.2589C>T c.*366C>T (n.*366C>T) c.2585C>T (p.Ala862Val) n.2635C>T c.2837C>T (p.Ala946Val) c.2738C>T (p.Ala913Val) c.3152C>T (p.Ala1051Val) | dbSNP COSMIC |
| 16 | g.9764548G>C | CA394708893 | GRIN2A | c.2996C>G (p.Ala999Gly) c.2525C>G (p.Ala842Gly) n.2589C>G c.*366C>G (n.*366C>G) c.2585C>G (p.Ala862Gly) n.2635C>G c.2837C>G (p.Ala946Gly) c.2738C>G (p.Ala913Gly) c.3152C>G (p.Ala1051Gly) | dbSNP |
| 16 | g.9764548G>T | CA394708894 | GRIN2A | c.2996C>A (p.Ala999Asp) c.2525C>A (p.Ala842Asp) n.2589C>A c.*366C>A (n.*366C>A) c.2585C>A (p.Ala862Asp) n.2635C>A c.2837C>A (p.Ala946Asp) c.2738C>A (p.Ala913Asp) c.3152C>A (p.Ala1051Asp) | |
| 16 | g.9764548_9764549insACACCT | CA2580092140 | GRIN2A | c.2995_2996insAGGTGT (p.Ala999delinsGluValSer) c.2524_2525insAGGTGT (p.Ala842delinsGluValSer) n.2588_2589insAGGTGT c.*365_*366insAGGTGT (n.*365_*366insAGGTGT) c.2584_2585insAGGTGT (p.Ala862delinsGluValSer) n.2634_2635insAGGTGT c.2836_2837insAGGTGT (p.Ala946delinsGluValSer) c.2737_2738insAGGTGT (p.Ala913delinsGluValSer) c.3151_3152insAGGTGT (p.Ala1051delinsGluValSer) | ClinVar |
| 16 | g.9764549C>A | CA394708895 | GRIN2A | c.2995G>T (p.Ala999Ser) c.2524G>T (p.Ala842Ser) n.2588G>T c.*365G>T (n.*365G>T) c.2584G>T (p.Ala862Ser) n.2634G>T c.2836G>T (p.Ala946Ser) c.2737G>T (p.Ala913Ser) c.3151G>T (p.Ala1051Ser) | gnomAD v4 |
| 16 | g.9764549C= | CA2206693294 | GRIN2A | c.2995G= (p.Ala999=) c.2524G= (p.Ala842=) n.2588G= c.*365G= (n.*365G=) c.2584G= (p.Ala862=) n.2634G= c.2836G= (p.Ala946=) c.2737G= (p.Ala913=) c.3151G= (p.Ala1051=) | |
| 16 | g.9764549C>G | CA394708896 | GRIN2A | c.2995G>C (p.Ala999Pro) c.2524G>C (p.Ala842Pro) n.2588G>C c.*365G>C (n.*365G>C) c.2584G>C (p.Ala862Pro) n.2634G>C c.2836G>C (p.Ala946Pro) c.2737G>C (p.Ala913Pro) c.3151G>C (p.Ala1051Pro) | |
| 16 | g.9764549C>T | CA394708897 | GRIN2A | c.2995G>A (p.Ala999Thr) c.2524G>A (p.Ala842Thr) n.2588G>A c.*365G>A (n.*365G>A) c.2584G>A (p.Ala862Thr) n.2634G>A c.2836G>A (p.Ala946Thr) c.2737G>A (p.Ala913Thr) c.3151G>A (p.Ala1051Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764550C>A | CA493693443 | GRIN2A | c.2994G>T (p.Val998=) c.2523G>T (p.Val841=) n.2587G>T c.*364G>T (n.*364G>T) c.2583G>T (p.Val861=) n.2633G>T c.2835G>T (p.Val945=) c.2736G>T (p.Val912=) c.3150G>T (p.Val1050=) | dbSNP |
| 16 | g.9764550C>G | CA493693444 | GRIN2A | c.2994G>C (p.Val998=) c.2523G>C (p.Val841=) n.2587G>C c.*364G>C (n.*364G>C) c.2583G>C (p.Val861=) n.2633G>C c.2835G>C (p.Val945=) c.2736G>C (p.Val912=) c.3150G>C (p.Val1050=) | |
| 16 | g.9764550C>T | CA493693445 | GRIN2A | c.2994G>A (p.Val998=) c.2523G>A (p.Val841=) n.2587G>A c.*364G>A (n.*364G>A) c.2583G>A (p.Val861=) n.2633G>A c.2835G>A (p.Val945=) c.2736G>A (p.Val912=) c.3150G>A (p.Val1050=) | dbSNP |
| 16 | g.9764551A= | CA2206693295 | GRIN2A | c.2993T= (p.Val998=) c.2522T= (p.Val841=) n.2586T= c.*363T= (n.*363T=) c.2582T= (p.Val861=) n.2632T= c.2834T= (p.Val945=) c.2735T= (p.Val912=) c.3149T= (p.Val1050=) | |
| 16 | g.9764551A>C | CA394708899 | GRIN2A | c.2993T>G (p.Val998Gly) c.2522T>G (p.Val841Gly) n.2586T>G c.*363T>G (n.*363T>G) c.2582T>G (p.Val861Gly) n.2632T>G c.2834T>G (p.Val945Gly) c.2735T>G (p.Val912Gly) c.3149T>G (p.Val1050Gly) | dbSNP |
| 16 | g.9764551A>G | CA394708900 | GRIN2A | c.2993T>C (p.Val998Ala) c.2522T>C (p.Val841Ala) n.2586T>C c.*363T>C (n.*363T>C) c.2582T>C (p.Val861Ala) n.2632T>C c.2834T>C (p.Val945Ala) c.2735T>C (p.Val912Ala) c.3149T>C (p.Val1050Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764551A>T | CA394708898 | GRIN2A | c.2993T>A (p.Val998Glu) c.2522T>A (p.Val841Glu) n.2586T>A c.*363T>A (n.*363T>A) c.2582T>A (p.Val861Glu) n.2632T>A c.2834T>A (p.Val945Glu) c.2735T>A (p.Val912Glu) c.3149T>A (p.Val1050Glu) | dbSNP |
| 16 | g.9764552C>A | CA394708901 | GRIN2A | c.2992G>T (p.Val998Leu) c.2521G>T (p.Val841Leu) n.2585G>T c.*362G>T (n.*362G>T) c.2581G>T (p.Val861Leu) n.2631G>T c.2833G>T (p.Val945Leu) c.2734G>T (p.Val912Leu) c.3148G>T (p.Val1050Leu) | |
| 16 | g.9764552C= | CA2206693296 | GRIN2A | c.2992G= (p.Val998=) c.2521G= (p.Val841=) n.2585G= c.*362G= (n.*362G=) c.2581G= (p.Val861=) n.2631G= c.2833G= (p.Val945=) c.2734G= (p.Val912=) c.3148G= (p.Val1050=) | |
| 16 | g.9764552C>G | CA394708903 | GRIN2A | c.2992G>C (p.Val998Leu) c.2521G>C (p.Val841Leu) n.2585G>C c.*362G>C (n.*362G>C) c.2581G>C (p.Val861Leu) n.2631G>C c.2833G>C (p.Val945Leu) c.2734G>C (p.Val912Leu) c.3148G>C (p.Val1050Leu) | |
| 16 | g.9764552C>T | CA394708902 | GRIN2A | c.2992G>A (p.Val998Met) c.2521G>A (p.Val841Met) n.2585G>A c.*362G>A (n.*362G>A) c.2581G>A (p.Val861Met) n.2631G>A c.2833G>A (p.Val945Met) c.2734G>A (p.Val912Met) c.3148G>A (p.Val1050Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764553C>A | CA7896392 | GRIN2A | c.2991G>T (p.Glu997Asp) c.2520G>T (p.Glu840Asp) n.2584G>T c.*361G>T (n.*361G>T) c.2580G>T (p.Glu860Asp) n.2630G>T c.2832G>T (p.Glu944Asp) c.2733G>T (p.Glu911Asp) c.3147G>T (p.Glu1049Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764553C= | CA2206693297 | GRIN2A | c.2991G= (p.Glu997=) c.2520G= (p.Glu840=) n.2584G= c.*361G= (n.*361G=) c.2580G= (p.Glu860=) n.2630G= c.2832G= (p.Glu944=) c.2733G= (p.Glu911=) c.3147G= (p.Glu1049=) | |
| 16 | g.9764553C>G | CA394708904 | GRIN2A | c.2991G>C (p.Glu997Asp) c.2520G>C (p.Glu840Asp) n.2584G>C c.*361G>C (n.*361G>C) c.2580G>C (p.Glu860Asp) n.2630G>C c.2832G>C (p.Glu944Asp) c.2733G>C (p.Glu911Asp) c.3147G>C (p.Glu1049Asp) | |
| 16 | g.9764553C>T | CA493693450 | GRIN2A | c.2991G>A (p.Glu997=) c.2520G>A (p.Glu840=) n.2584G>A c.*361G>A (n.*361G>A) c.2580G>A (p.Glu860=) n.2630G>A c.2832G>A (p.Glu944=) c.2733G>A (p.Glu911=) c.3147G>A (p.Glu1049=) | ClinVar dbSNP COSMIC |
| 16 | g.9764554T>A | CA394708905 | GRIN2A | c.2990A>T (p.Glu997Val) c.2519A>T (p.Glu840Val) n.2583A>T c.*360A>T (n.*360A>T) c.2579A>T (p.Glu860Val) n.2629A>T c.2831A>T (p.Glu944Val) c.2732A>T (p.Glu911Val) c.3146A>T (p.Glu1049Val) | |
| 16 | g.9764554T>C | CA394708906 | GRIN2A | c.2990A>G (p.Glu997Gly) c.2519A>G (p.Glu840Gly) n.2583A>G c.*360A>G (n.*360A>G) c.2579A>G (p.Glu860Gly) n.2629A>G c.2831A>G (p.Glu944Gly) c.2732A>G (p.Glu911Gly) c.3146A>G (p.Glu1049Gly) | gnomAD v4 |
| 16 | g.9764554T>G | CA394708907 | GRIN2A | c.2990A>C (p.Glu997Ala) c.2519A>C (p.Glu840Ala) n.2583A>C c.*360A>C (n.*360A>C) c.2579A>C (p.Glu860Ala) n.2629A>C c.2831A>C (p.Glu944Ala) c.2732A>C (p.Glu911Ala) c.3146A>C (p.Glu1049Ala) | |
| 16 | g.9764555C>A | CA394708908 | GRIN2A | c.2989G>T (p.Glu997Ter) c.2518G>T (p.Glu840Ter) n.2582G>T c.*359G>T (n.*359G>T) c.2578G>T (p.Glu860Ter) n.2628G>T c.2830G>T (p.Glu944Ter) c.2731G>T (p.Glu911Ter) c.3145G>T (p.Glu1049Ter) | dbSNP |
| 16 | g.9764555C= | CA2206693298 | GRIN2A | c.2989G= (p.Glu997=) c.2518G= (p.Glu840=) n.2582G= c.*359G= (n.*359G=) c.2578G= (p.Glu860=) n.2628G= c.2830G= (p.Glu944=) c.2731G= (p.Glu911=) c.3145G= (p.Glu1049=) | |
| 16 | g.9764555C>G | CA394708909 | GRIN2A | c.2989G>C (p.Glu997Gln) c.2518G>C (p.Glu840Gln) n.2582G>C c.*359G>C (n.*359G>C) c.2578G>C (p.Glu860Gln) n.2628G>C c.2830G>C (p.Glu944Gln) c.2731G>C (p.Glu911Gln) c.3145G>C (p.Glu1049Gln) | dbSNP gnomAD v4 |
| 16 | g.9764555C>T | CA394708910 | GRIN2A | c.2989G>A (p.Glu997Lys) c.2518G>A (p.Glu840Lys) n.2582G>A c.*359G>A (n.*359G>A) c.2578G>A (p.Glu860Lys) n.2628G>A c.2830G>A (p.Glu944Lys) c.2731G>A (p.Glu911Lys) c.3145G>A (p.Glu1049Lys) | dbSNP gnomAD v4 COSMIC |
| 16 | g.9764556C>A | CA493693453 | GRIN2A | c.2988G>T (p.Val996=) c.2517G>T (p.Val839=) n.2581G>T c.*358G>T (n.*358G>T) c.2577G>T (p.Val859=) n.2627G>T c.2829G>T (p.Val943=) c.2730G>T (p.Val910=) c.3144G>T (p.Val1048=) | |
| 16 | g.9764556C>G | CA493693454 | GRIN2A | c.2988G>C (p.Val996=) c.2517G>C (p.Val839=) n.2581G>C c.*358G>C (n.*358G>C) c.2577G>C (p.Val859=) n.2627G>C c.2829G>C (p.Val943=) c.2730G>C (p.Val910=) c.3144G>C (p.Val1048=) | |
| 16 | g.9764556C>T | CA493693455 | GRIN2A | c.2988G>A (p.Val996=) c.2517G>A (p.Val839=) n.2581G>A c.*358G>A (n.*358G>A) c.2577G>A (p.Val859=) n.2627G>A c.2829G>A (p.Val943=) c.2730G>A (p.Val910=) c.3144G>A (p.Val1048=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764557A>C | CA394708911 | GRIN2A | c.2987T>G (p.Val996Gly) c.2516T>G (p.Val839Gly) n.2580T>G c.*357T>G (n.*357T>G) c.2576T>G (p.Val859Gly) n.2626T>G c.2828T>G (p.Val943Gly) c.2729T>G (p.Val910Gly) c.3143T>G (p.Val1048Gly) | |
| 16 | g.9764557A>G | CA394708912 | GRIN2A | c.2987T>C (p.Val996Ala) c.2516T>C (p.Val839Ala) n.2580T>C c.*357T>C (n.*357T>C) c.2576T>C (p.Val859Ala) n.2626T>C c.2828T>C (p.Val943Ala) c.2729T>C (p.Val910Ala) c.3143T>C (p.Val1048Ala) | |
| 16 | g.9764557A>T | CA394708913 | GRIN2A | c.2987T>A (p.Val996Glu) c.2516T>A (p.Val839Glu) n.2580T>A c.*357T>A (n.*357T>A) c.2576T>A (p.Val859Glu) n.2626T>A c.2828T>A (p.Val943Glu) c.2729T>A (p.Val910Glu) c.3143T>A (p.Val1048Glu) | dbSNP |
| 16 | g.9764558C>A | CA394708916 | GRIN2A | c.2986G>T (p.Val996Leu) c.2515G>T (p.Val839Leu) n.2579G>T c.*356G>T (n.*356G>T) c.2575G>T (p.Val859Leu) n.2625G>T c.2827G>T (p.Val943Leu) c.2728G>T (p.Val910Leu) c.3142G>T (p.Val1048Leu) | |
| 16 | g.9764558C= | CA2206693299 | GRIN2A | c.2986G= (p.Val996=) c.2515G= (p.Val839=) n.2579G= c.*356G= (n.*356G=) c.2575G= (p.Val859=) n.2625G= c.2827G= (p.Val943=) c.2728G= (p.Val910=) c.3142G= (p.Val1048=) | |
| 16 | g.9764558C>G | CA394708915 | GRIN2A | c.2986G>C (p.Val996Leu) c.2515G>C (p.Val839Leu) n.2579G>C c.*356G>C (n.*356G>C) c.2575G>C (p.Val859Leu) n.2625G>C c.2827G>C (p.Val943Leu) c.2728G>C (p.Val910Leu) c.3142G>C (p.Val1048Leu) | |
| 16 | g.9764558C>T | CA394708914 | GRIN2A | c.2986G>A (p.Val996Met) c.2515G>A (p.Val839Met) n.2579G>A c.*356G>A (n.*356G>A) c.2575G>A (p.Val859Met) n.2625G>A c.2827G>A (p.Val943Met) c.2728G>A (p.Val910Met) c.3142G>A (p.Val1048Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764559C>A | CA7896393 | GRIN2A | c.2985G>T (p.Thr995=) c.2514G>T (p.Thr838=) n.2578G>T c.*355G>T (n.*355G>T) c.2574G>T (p.Thr858=) n.2624G>T c.2826G>T (p.Thr942=) c.2727G>T (p.Thr909=) c.3141G>T (p.Thr1047=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764559C= | CA2206693300 | GRIN2A | c.2985G= (p.Thr995=) c.2514G= (p.Thr838=) n.2578G= c.*355G= (n.*355G=) c.2574G= (p.Thr858=) n.2624G= c.2826G= (p.Thr942=) c.2727G= (p.Thr909=) c.3141G= (p.Thr1047=) | |
| 16 | g.9764559C>G | CA7896394 | GRIN2A | c.2985G>C (p.Thr995=) c.2514G>C (p.Thr838=) n.2578G>C c.*355G>C (n.*355G>C) c.2574G>C (p.Thr858=) n.2624G>C c.2826G>C (p.Thr942=) c.2727G>C (p.Thr909=) c.3141G>C (p.Thr1047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764559C>T | CA7896395 | GRIN2A | c.2985G>A (p.Thr995=) c.2514G>A (p.Thr838=) n.2578G>A c.*355G>A (n.*355G>A) c.2574G>A (p.Thr858=) n.2624G>A c.2826G>A (p.Thr942=) c.2727G>A (p.Thr909=) c.3141G>A (p.Thr1047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764560G>A | CA7896396 | GRIN2A | c.2984C>T (p.Thr995Met) c.2513C>T (p.Thr838Met) n.2577C>T c.*354C>T (n.*354C>T) c.2573C>T (p.Thr858Met) n.2623C>T c.2825C>T (p.Thr942Met) c.2726C>T (p.Thr909Met) c.3140C>T (p.Thr1047Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764560G>C | CA394708917 | GRIN2A | c.2984C>G (p.Thr995Arg) c.2513C>G (p.Thr838Arg) n.2577C>G c.*354C>G (n.*354C>G) c.2573C>G (p.Thr858Arg) n.2623C>G c.2825C>G (p.Thr942Arg) c.2726C>G (p.Thr909Arg) c.3140C>G (p.Thr1047Arg) | dbSNP |
| 16 | g.9764560G= | CA2206693301 | GRIN2A | c.2984C= (p.Thr995=) c.2513C= (p.Thr838=) n.2577C= c.*354C= (n.*354C=) c.2573C= (p.Thr858=) n.2623C= c.2825C= (p.Thr942=) c.2726C= (p.Thr909=) c.3140C= (p.Thr1047=) | |
| 16 | g.9764560G>T | CA394708918 | GRIN2A | c.2984C>A (p.Thr995Lys) c.2513C>A (p.Thr838Lys) n.2577C>A c.*354C>A (n.*354C>A) c.2573C>A (p.Thr858Lys) n.2623C>A c.2825C>A (p.Thr942Lys) c.2726C>A (p.Thr909Lys) c.3140C>A (p.Thr1047Lys) | |
| 16 | g.9764561T>A | CA394708919 | GRIN2A | c.2983A>T (p.Thr995Ser) c.2512A>T (p.Thr838Ser) n.2576A>T c.*353A>T (n.*353A>T) c.2572A>T (p.Thr858Ser) n.2622A>T c.2824A>T (p.Thr942Ser) c.2725A>T (p.Thr909Ser) c.3139A>T (p.Thr1047Ser) | dbSNP |
| 16 | g.9764561T>C | CA7896397 | GRIN2A | c.2983A>G (p.Thr995Ala) c.2512A>G (p.Thr838Ala) n.2576A>G c.*353A>G (n.*353A>G) c.2572A>G (p.Thr858Ala) n.2622A>G c.2824A>G (p.Thr942Ala) c.2725A>G (p.Thr909Ala) c.3139A>G (p.Thr1047Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764561T>G | CA394708921 | GRIN2A | c.2983A>C (p.Thr995Pro) c.2512A>C (p.Thr838Pro) n.2576A>C c.*353A>C (n.*353A>C) c.2572A>C (p.Thr858Pro) n.2622A>C c.2824A>C (p.Thr942Pro) c.2725A>C (p.Thr909Pro) c.3139A>C (p.Thr1047Pro) | dbSNP |
| 16 | g.9764561T= | CA2206693302 | GRIN2A | c.2983A= (p.Thr995=) c.2512A= (p.Thr838=) n.2576A= c.*353A= (n.*353A=) c.2572A= (p.Thr858=) n.2622A= c.2824A= (p.Thr942=) c.2725A= (p.Thr909=) c.3139A= (p.Thr1047=) | |
| 16 | g.9764562G>A | CA493693460 | GRIN2A | c.2982C>T (p.Asn994=) c.2511C>T (p.Asn837=) n.2575C>T c.*352C>T (n.*352C>T) c.2571C>T (p.Asn857=) n.2621C>T c.2823C>T (p.Asn941=) c.2724C>T (p.Asn908=) c.3138C>T (p.Asn1046=) | gnomAD v4 |
| 16 | g.9764562G>C | CA394708922 | GRIN2A | c.2982C>G (p.Asn994Lys) c.2511C>G (p.Asn837Lys) n.2575C>G c.*352C>G (n.*352C>G) c.2571C>G (p.Asn857Lys) n.2621C>G c.2823C>G (p.Asn941Lys) c.2724C>G (p.Asn908Lys) c.3138C>G (p.Asn1046Lys) | dbSNP |
| 16 | g.9764562G>T | CA394708923 | GRIN2A | c.2982C>A (p.Asn994Lys) c.2511C>A (p.Asn837Lys) n.2575C>A c.*352C>A (n.*352C>A) c.2571C>A (p.Asn857Lys) n.2621C>A c.2823C>A (p.Asn941Lys) c.2724C>A (p.Asn908Lys) c.3138C>A (p.Asn1046Lys) | gnomAD v4 |
| 16 | g.9764563T>A | CA394708926 | GRIN2A | c.2981A>T (p.Asn994Ile) c.2510A>T (p.Asn837Ile) n.2574A>T c.*351A>T (n.*351A>T) c.2570A>T (p.Asn857Ile) n.2620A>T c.2822A>T (p.Asn941Ile) c.2723A>T (p.Asn908Ile) c.3137A>T (p.Asn1046Ile) | dbSNP |
| 16 | g.9764563T>C | CA394708925 | GRIN2A | c.2981A>G (p.Asn994Ser) c.2510A>G (p.Asn837Ser) n.2574A>G c.*351A>G (n.*351A>G) c.2570A>G (p.Asn857Ser) n.2620A>G c.2822A>G (p.Asn941Ser) c.2723A>G (p.Asn908Ser) c.3137A>G (p.Asn1046Ser) | |
| 16 | g.9764563T>G | CA394708924 | GRIN2A | c.2981A>C (p.Asn994Thr) c.2510A>C (p.Asn837Thr) n.2574A>C c.*351A>C (n.*351A>C) c.2570A>C (p.Asn857Thr) n.2620A>C c.2822A>C (p.Asn941Thr) c.2723A>C (p.Asn908Thr) c.3137A>C (p.Asn1046Thr) | dbSNP |
| 16 | g.9764564T>A | CA394708927 | GRIN2A | c.2980A>T (p.Asn994Tyr) c.2509A>T (p.Asn837Tyr) n.2573A>T c.*350A>T (n.*350A>T) c.2569A>T (p.Asn857Tyr) n.2619A>T c.2821A>T (p.Asn941Tyr) c.2722A>T (p.Asn908Tyr) c.3136A>T (p.Asn1046Tyr) | |
| 16 | g.9764564T>C | CA394708928 | GRIN2A | c.2980A>G (p.Asn994Asp) c.2509A>G (p.Asn837Asp) n.2573A>G c.*350A>G (n.*350A>G) c.2569A>G (p.Asn857Asp) n.2619A>G c.2821A>G (p.Asn941Asp) c.2722A>G (p.Asn908Asp) c.3136A>G (p.Asn1046Asp) | |
| 16 | g.9764564T>G | CA394708929 | GRIN2A | c.2980A>C (p.Asn994His) c.2509A>C (p.Asn837His) n.2573A>C c.*350A>C (n.*350A>C) c.2569A>C (p.Asn857His) n.2619A>C c.2821A>C (p.Asn941His) c.2722A>C (p.Asn908His) c.3136A>C (p.Asn1046His) | |
| 16 | g.9764565A>C | CA493693464 | GRIN2A | c.2979T>G (p.Pro993=) c.2508T>G (p.Pro836=) n.2572T>G c.*349T>G (n.*349T>G) c.2568T>G (p.Pro856=) n.2618T>G c.2820T>G (p.Pro940=) c.2721T>G (p.Pro907=) c.3135T>G (p.Pro1045=) | |
| 16 | g.9764565A>G | CA493693465 | GRIN2A | c.2979T>C (p.Pro993=) c.2508T>C (p.Pro836=) n.2572T>C c.*349T>C (n.*349T>C) c.2568T>C (p.Pro856=) n.2618T>C c.2820T>C (p.Pro940=) c.2721T>C (p.Pro907=) c.3135T>C (p.Pro1045=) | |
| 16 | g.9764565A>T | CA493693466 | GRIN2A | c.2979T>A (p.Pro993=) c.2508T>A (p.Pro836=) n.2572T>A c.*349T>A (n.*349T>A) c.2568T>A (p.Pro856=) n.2618T>A c.2820T>A (p.Pro940=) c.2721T>A (p.Pro907=) c.3135T>A (p.Pro1045=) | dbSNP |
| 16 | g.9764566G>A | CA394708930 | GRIN2A | c.2978C>T (p.Pro993Leu) c.2507C>T (p.Pro836Leu) n.2571C>T c.*348C>T (n.*348C>T) c.2567C>T (p.Pro856Leu) n.2617C>T c.2819C>T (p.Pro940Leu) c.2720C>T (p.Pro907Leu) c.3134C>T (p.Pro1045Leu) | dbSNP gnomAD v4 |
| 16 | g.9764566G>C | CA394708931 | GRIN2A | c.2978C>G (p.Pro993Arg) c.2507C>G (p.Pro836Arg) n.2571C>G c.*348C>G (n.*348C>G) c.2567C>G (p.Pro856Arg) n.2617C>G c.2819C>G (p.Pro940Arg) c.2720C>G (p.Pro907Arg) c.3134C>G (p.Pro1045Arg) | dbSNP gnomAD v4 |
| 16 | g.9764566G= | CA2206693303 | GRIN2A | c.2978C= (p.Pro993=) c.2507C= (p.Pro836=) n.2571C= c.*348C= (n.*348C=) c.2567C= (p.Pro856=) n.2617C= c.2819C= (p.Pro940=) c.2720C= (p.Pro907=) c.3134C= (p.Pro1045=) | |
| 16 | g.9764566G>T | CA394708932 | GRIN2A | c.2978C>A (p.Pro993His) c.2507C>A (p.Pro836His) n.2571C>A c.*348C>A (n.*348C>A) c.2567C>A (p.Pro856His) n.2617C>A c.2819C>A (p.Pro940His) c.2720C>A (p.Pro907His) c.3134C>A (p.Pro1045His) | dbSNP |
| 16 | g.9764567G>A | CA394708935 | GRIN2A | c.2977C>T (p.Pro993Ser) c.2506C>T (p.Pro836Ser) n.2570C>T c.*347C>T (n.*347C>T) c.2566C>T (p.Pro856Ser) n.2616C>T c.2818C>T (p.Pro940Ser) c.2719C>T (p.Pro907Ser) c.3133C>T (p.Pro1045Ser) | |
| 16 | g.9764567G>C | CA394708933 | GRIN2A | c.2977C>G (p.Pro993Ala) c.2506C>G (p.Pro836Ala) n.2570C>G c.*347C>G (n.*347C>G) c.2566C>G (p.Pro856Ala) n.2616C>G c.2818C>G (p.Pro940Ala) c.2719C>G (p.Pro907Ala) c.3133C>G (p.Pro1045Ala) | dbSNP |
| 16 | g.9764567G>T | CA394708934 | GRIN2A | c.2977C>A (p.Pro993Thr) c.2506C>A (p.Pro836Thr) n.2570C>A c.*347C>A (n.*347C>A) c.2566C>A (p.Pro856Thr) n.2616C>A c.2818C>A (p.Pro940Thr) c.2719C>A (p.Pro907Thr) c.3133C>A (p.Pro1045Thr) | COSMIC |
| 16 | g.9764568G>A | CA493693467 | GRIN2A | c.2976C>T (p.Asn992=) c.2505C>T (p.Asn835=) n.2569C>T c.*346C>T (n.*346C>T) c.2565C>T (p.Asn855=) n.2615C>T c.2817C>T (p.Asn939=) c.2718C>T (p.Asn906=) c.3132C>T (p.Asn1044=) | |
| 16 | g.9764568G>C | CA394708936 | GRIN2A | c.2976C>G (p.Asn992Lys) c.2505C>G (p.Asn835Lys) n.2569C>G c.*346C>G (n.*346C>G) c.2565C>G (p.Asn855Lys) n.2615C>G c.2817C>G (p.Asn939Lys) c.2718C>G (p.Asn906Lys) c.3132C>G (p.Asn1044Lys) | |
| 16 | g.9764568G= | CA2206693304 | GRIN2A | c.2976C= (p.Asn992=) c.2505C= (p.Asn835=) n.2569C= c.*346C= (n.*346C=) c.2565C= (p.Asn855=) n.2615C= c.2817C= (p.Asn939=) c.2718C= (p.Asn906=) c.3132C= (p.Asn1044=) | |
| 16 | g.9764568G>T | CA277538190 | GRIN2A | c.2976C>A (p.Asn992Lys) c.2505C>A (p.Asn835Lys) n.2569C>A c.*346C>A (n.*346C>A) c.2565C>A (p.Asn855Lys) n.2615C>A c.2817C>A (p.Asn939Lys) c.2718C>A (p.Asn906Lys) c.3132C>A (p.Asn1044Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764569T>A | CA394708937 | GRIN2A | c.2975A>T (p.Asn992Ile) c.2504A>T (p.Asn835Ile) n.2568A>T c.*345A>T (n.*345A>T) c.2564A>T (p.Asn855Ile) n.2614A>T c.2816A>T (p.Asn939Ile) c.2717A>T (p.Asn906Ile) c.3131A>T (p.Asn1044Ile) | |
| 16 | g.9764569T>C | CA394708938 | GRIN2A | c.2975A>G (p.Asn992Ser) c.2504A>G (p.Asn835Ser) n.2568A>G c.*345A>G (n.*345A>G) c.2564A>G (p.Asn855Ser) n.2614A>G c.2816A>G (p.Asn939Ser) c.2717A>G (p.Asn906Ser) c.3131A>G (p.Asn1044Ser) | ClinVar COSMIC |
| 16 | g.9764569T>G | CA394708939 | GRIN2A | c.2975A>C (p.Asn992Thr) c.2504A>C (p.Asn835Thr) n.2568A>C c.*345A>C (n.*345A>C) c.2564A>C (p.Asn855Thr) n.2614A>C c.2816A>C (p.Asn939Thr) c.2717A>C (p.Asn906Thr) c.3131A>C (p.Asn1044Thr) | |
| 16 | g.9764570T>A | CA394708940 | GRIN2A | c.2974A>T (p.Asn992Tyr) c.2503A>T (p.Asn835Tyr) n.2567A>T c.*344A>T (n.*344A>T) c.2563A>T (p.Asn855Tyr) n.2613A>T c.2815A>T (p.Asn939Tyr) c.2716A>T (p.Asn906Tyr) c.3130A>T (p.Asn1044Tyr) | |
| 16 | g.9764570T>C | CA394708942 | GRIN2A | c.2974A>G (p.Asn992Asp) c.2503A>G (p.Asn835Asp) n.2567A>G c.*344A>G (n.*344A>G) c.2563A>G (p.Asn855Asp) n.2613A>G c.2815A>G (p.Asn939Asp) c.2716A>G (p.Asn906Asp) c.3130A>G (p.Asn1044Asp) | |
| 16 | g.9764570T>G | CA394708941 | GRIN2A | c.2974A>C (p.Asn992His) c.2503A>C (p.Asn835His) n.2567A>C c.*344A>C (n.*344A>C) c.2563A>C (p.Asn855His) n.2613A>C c.2815A>C (p.Asn939His) c.2716A>C (p.Asn906His) c.3130A>C (p.Asn1044His) | |
| 16 | g.9764571G>A | CA493693470 | GRIN2A | c.2973C>T (p.Ser991=) c.2502C>T (p.Ser834=) n.2566C>T c.*343C>T (n.*343C>T) c.2562C>T (p.Ser854=) n.2612C>T c.2814C>T (p.Ser938=) c.2715C>T (p.Ser905=) c.3129C>T (p.Ser1043=) | dbSNP gnomAD v4 COSMIC |
| 16 | g.9764571G>C | CA493693471 | GRIN2A | c.2973C>G (p.Ser991=) c.2502C>G (p.Ser834=) n.2566C>G c.*343C>G (n.*343C>G) c.2562C>G (p.Ser854=) n.2612C>G c.2814C>G (p.Ser938=) c.2715C>G (p.Ser905=) c.3129C>G (p.Ser1043=) | |
| 16 | g.9764571G>T | CA493693472 | GRIN2A | c.2973C>A (p.Ser991=) c.2502C>A (p.Ser834=) n.2566C>A c.*343C>A (n.*343C>A) c.2562C>A (p.Ser854=) n.2612C>A c.2814C>A (p.Ser938=) c.2715C>A (p.Ser905=) c.3129C>A (p.Ser1043=) | dbSNP |
| 16 | g.9764572G>A | CA394708943 | GRIN2A | c.2972C>T (p.Ser991Phe) c.2501C>T (p.Ser834Phe) n.2565C>T c.*342C>T (n.*342C>T) c.2561C>T (p.Ser854Phe) n.2611C>T c.2813C>T (p.Ser938Phe) c.2714C>T (p.Ser905Phe) c.3128C>T (p.Ser1043Phe) | COSMIC |
| 16 | g.9764572G>C | CA394708944 | GRIN2A | c.2972C>G (p.Ser991Cys) c.2501C>G (p.Ser834Cys) n.2565C>G c.*342C>G (n.*342C>G) c.2561C>G (p.Ser854Cys) n.2611C>G c.2813C>G (p.Ser938Cys) c.2714C>G (p.Ser905Cys) c.3128C>G (p.Ser1043Cys) | dbSNP |
| 16 | g.9764572G>T | CA394708945 | GRIN2A | c.2972C>A (p.Ser991Tyr) c.2501C>A (p.Ser834Tyr) n.2565C>A c.*342C>A (n.*342C>A) c.2561C>A (p.Ser854Tyr) n.2611C>A c.2813C>A (p.Ser938Tyr) c.2714C>A (p.Ser905Tyr) c.3128C>A (p.Ser1043Tyr) | dbSNP |
| 16 | g.9764573A>C | CA394708946 | GRIN2A | c.2971T>G (p.Ser991Ala) c.2500T>G (p.Ser834Ala) n.2564T>G c.*341T>G (n.*341T>G) c.2560T>G (p.Ser854Ala) n.2610T>G c.2812T>G (p.Ser938Ala) c.2713T>G (p.Ser905Ala) c.3127T>G (p.Ser1043Ala) | |
| 16 | g.9764573A>G | CA394708947 | GRIN2A | c.2971T>C (p.Ser991Pro) c.2500T>C (p.Ser834Pro) n.2564T>C c.*341T>C (n.*341T>C) c.2560T>C (p.Ser854Pro) n.2610T>C c.2812T>C (p.Ser938Pro) c.2713T>C (p.Ser905Pro) c.3127T>C (p.Ser1043Pro) | COSMIC |
| 16 | g.9764573A>T | CA394708948 | GRIN2A | c.2971T>A (p.Ser991Thr) c.2500T>A (p.Ser834Thr) n.2564T>A c.*341T>A (n.*341T>A) c.2560T>A (p.Ser854Thr) n.2610T>A c.2812T>A (p.Ser938Thr) c.2713T>A (p.Ser905Thr) c.3127T>A (p.Ser1043Thr) | dbSNP |
| 16 | g.9764574C>A | CA394708949 | GRIN2A | c.2970G>T (p.Glu990Asp) c.2499G>T (p.Glu833Asp) n.2563G>T c.*340G>T (n.*340G>T) c.2559G>T (p.Glu853Asp) n.2609G>T c.2811G>T (p.Glu937Asp) c.2712G>T (p.Glu904Asp) c.3126G>T (p.Glu1042Asp) | dbSNP |
| 16 | g.9764574C= | CA2206693305 | GRIN2A | c.2970G= (p.Glu990=) c.2499G= (p.Glu833=) n.2563G= c.*340G= (n.*340G=) c.2559G= (p.Glu853=) n.2609G= c.2811G= (p.Glu937=) c.2712G= (p.Glu904=) c.3126G= (p.Glu1042=) | |
| 16 | g.9764574C>G | CA394708950 | GRIN2A | c.2970G>C (p.Glu990Asp) c.2499G>C (p.Glu833Asp) n.2563G>C c.*340G>C (n.*340G>C) c.2559G>C (p.Glu853Asp) n.2609G>C c.2811G>C (p.Glu937Asp) c.2712G>C (p.Glu904Asp) c.3126G>C (p.Glu1042Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764574C>T | CA493693475 | GRIN2A | c.2970G>A (p.Glu990=) c.2499G>A (p.Glu833=) n.2563G>A c.*340G>A (n.*340G>A) c.2559G>A (p.Glu853=) n.2609G>A c.2811G>A (p.Glu937=) c.2712G>A (p.Glu904=) c.3126G>A (p.Glu1042=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764575T>A | CA394708951 | GRIN2A | c.2969A>T (p.Glu990Val) c.2498A>T (p.Glu833Val) n.2562A>T c.*339A>T (n.*339A>T) c.2558A>T (p.Glu853Val) n.2608A>T c.2810A>T (p.Glu937Val) c.2711A>T (p.Glu904Val) c.3125A>T (p.Glu1042Val) | |
| 16 | g.9764575T>C | CA394708952 | GRIN2A | c.2969A>G (p.Glu990Gly) c.2498A>G (p.Glu833Gly) n.2562A>G c.*339A>G (n.*339A>G) c.2558A>G (p.Glu853Gly) n.2608A>G c.2810A>G (p.Glu937Gly) c.2711A>G (p.Glu904Gly) c.3125A>G (p.Glu1042Gly) | |
| 16 | g.9764575T>G | CA394708953 | GRIN2A | c.2969A>C (p.Glu990Ala) c.2498A>C (p.Glu833Ala) n.2562A>C c.*339A>C (n.*339A>C) c.2558A>C (p.Glu853Ala) n.2608A>C c.2810A>C (p.Glu937Ala) c.2711A>C (p.Glu904Ala) c.3125A>C (p.Glu1042Ala) | gnomAD v4 |
| 16 | g.9764576C>A | CA394708955 | GRIN2A | c.2968G>T (p.Glu990Ter) c.2497G>T (p.Glu833Ter) n.2561G>T c.*338G>T (n.*338G>T) c.2557G>T (p.Glu853Ter) n.2607G>T c.2809G>T (p.Glu937Ter) c.2710G>T (p.Glu904Ter) c.3124G>T (p.Glu1042Ter) | dbSNP |
| 16 | g.9764576C= | CA2206693306 | GRIN2A | c.2968G= (p.Glu990=) c.2497G= (p.Glu833=) n.2561G= c.*338G= (n.*338G=) c.2557G= (p.Glu853=) n.2607G= c.2809G= (p.Glu937=) c.2710G= (p.Glu904=) c.3124G= (p.Glu1042=) | |
| 16 | g.9764576C>G | CA394708956 | GRIN2A | c.2968G>C (p.Glu990Gln) c.2497G>C (p.Glu833Gln) n.2561G>C c.*338G>C (n.*338G>C) c.2557G>C (p.Glu853Gln) n.2607G>C c.2809G>C (p.Glu937Gln) c.2710G>C (p.Glu904Gln) c.3124G>C (p.Glu1042Gln) | dbSNP |
| 16 | g.9764576C>T | CA394708954 | GRIN2A | c.2968G>A (p.Glu990Lys) c.2497G>A (p.Glu833Lys) n.2561G>A c.*338G>A (n.*338G>A) c.2557G>A (p.Glu853Lys) n.2607G>A c.2809G>A (p.Glu937Lys) c.2710G>A (p.Glu904Lys) c.3124G>A (p.Glu1042Lys) | dbSNP |
| 16 | g.9764576_9764582delinsCATTGAG | CA2206693307 | GRIN2A | c.2962_2968delinsCTCAATG (p.Leu988=) c.2491_2497delinsCTCAATG (p.Leu831=) n.2555_2561delinsCTCAATG c.*332_*338delinsCTCAATG (n.*332_*338delinsCTCAATG) c.2551_2557delinsCTCAATG (p.Leu851=) n.2601_2607delinsCTCAATG c.2803_2809delinsCTCAATG (p.Leu935=) c.2704_2710delinsCTCAATG (p.Leu902=) c.3118_3124delinsCTCAATG (p.Leu1040=) | |
| 16 | g.9764577A= | CA2206693308 | GRIN2A | c.2967T= (p.Asn989=) c.2496T= (p.Asn832=) n.2560T= c.*337T= (n.*337T=) c.2556T= (p.Asn852=) n.2606T= c.2808T= (p.Asn936=) c.2709T= (p.Asn903=) c.3123T= (p.Asn1041=) | |
| 16 | g.9764577A>C | CA394708957 | GRIN2A | c.2967T>G (p.Asn989Lys) c.2496T>G (p.Asn832Lys) n.2560T>G c.*337T>G (n.*337T>G) c.2556T>G (p.Asn852Lys) n.2606T>G c.2808T>G (p.Asn936Lys) c.2709T>G (p.Asn903Lys) c.3123T>G (p.Asn1041Lys) | |
| 16 | g.9764577A>G | CA493693479 | GRIN2A | c.2967T>C (p.Asn989=) c.2496T>C (p.Asn832=) n.2560T>C c.*337T>C (n.*337T>C) c.2556T>C (p.Asn852=) n.2606T>C c.2808T>C (p.Asn936=) c.2709T>C (p.Asn903=) c.3123T>C (p.Asn1041=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764577A>T | CA394708958 | GRIN2A | c.2967T>A (p.Asn989Lys) c.2496T>A (p.Asn832Lys) n.2560T>A c.*337T>A (n.*337T>A) c.2556T>A (p.Asn852Lys) n.2606T>A c.2808T>A (p.Asn936Lys) c.2709T>A (p.Asn903Lys) c.3123T>A (p.Asn1041Lys) | dbSNP |
| 16 | g.9764578_9764583del | CA7896398 | GRIN2A | c.2962_2967del (p.Leu988_Asn989del) c.2491_2496del (p.Leu831_Asn832del) n.2555_2560del c.*332_*337del (n.*332_*337del) c.2551_2556del (p.Leu851_Asn852del) n.2601_2606del c.2803_2808del (p.Leu935_Asn936del) c.2704_2709del (p.Leu902_Asn903del) c.3118_3123del (p.Leu1040_Asn1041del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764578T>A | CA394708959 | GRIN2A | c.2966A>T (p.Asn989Ile) c.2495A>T (p.Asn832Ile) n.2559A>T c.*336A>T (n.*336A>T) c.2555A>T (p.Asn852Ile) n.2605A>T c.2807A>T (p.Asn936Ile) c.2708A>T (p.Asn903Ile) c.3122A>T (p.Asn1041Ile) | |
| 16 | g.9764578T>C | CA7896399 | GRIN2A | c.2966A>G (p.Asn989Ser) c.2495A>G (p.Asn832Ser) n.2559A>G c.*336A>G (n.*336A>G) c.2555A>G (p.Asn852Ser) n.2605A>G c.2807A>G (p.Asn936Ser) c.2708A>G (p.Asn903Ser) c.3122A>G (p.Asn1041Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764578T>G | CA394708960 | GRIN2A | c.2966A>C (p.Asn989Thr) c.2495A>C (p.Asn832Thr) n.2559A>C c.*336A>C (n.*336A>C) c.2555A>C (p.Asn852Thr) n.2605A>C c.2807A>C (p.Asn936Thr) c.2708A>C (p.Asn903Thr) c.3122A>C (p.Asn1041Thr) | dbSNP gnomAD v4 |
| 16 | g.9764578T= | CA2206693309 | GRIN2A | c.2966A= (p.Asn989=) c.2495A= (p.Asn832=) n.2559A= c.*336A= (n.*336A=) c.2555A= (p.Asn852=) n.2605A= c.2807A= (p.Asn936=) c.2708A= (p.Asn903=) c.3122A= (p.Asn1041=) | |
| 16 | g.9764579T>A | CA394708961 | GRIN2A | c.2965A>T (p.Asn989Tyr) c.2494A>T (p.Asn832Tyr) n.2558A>T c.*335A>T (n.*335A>T) c.2554A>T (p.Asn852Tyr) n.2604A>T c.2806A>T (p.Asn936Tyr) c.2707A>T (p.Asn903Tyr) c.3121A>T (p.Asn1041Tyr) | dbSNP gnomAD v4 |
| 16 | g.9764579T>C | CA394708962 | GRIN2A | c.2965A>G (p.Asn989Asp) c.2494A>G (p.Asn832Asp) n.2558A>G c.*335A>G (n.*335A>G) c.2554A>G (p.Asn852Asp) n.2604A>G c.2806A>G (p.Asn936Asp) c.2707A>G (p.Asn903Asp) c.3121A>G (p.Asn1041Asp) | dbSNP |
| 16 | g.9764579T>G | CA394708963 | GRIN2A | c.2965A>C (p.Asn989His) c.2494A>C (p.Asn832His) n.2558A>C c.*335A>C (n.*335A>C) c.2554A>C (p.Asn852His) n.2604A>C c.2806A>C (p.Asn936His) c.2707A>C (p.Asn903His) c.3121A>C (p.Asn1041His) | dbSNP gnomAD v4 |
| 16 | g.9764579T= | CA2206693310 | GRIN2A | c.2965A= (p.Asn989=) c.2494A= (p.Asn832=) n.2558A= c.*335A= (n.*335A=) c.2554A= (p.Asn852=) n.2604A= c.2806A= (p.Asn936=) c.2707A= (p.Asn903=) c.3121A= (p.Asn1041=) | |
| 16 | g.9764580G>A | CA493693483 | GRIN2A | c.2964C>T (p.Leu988=) c.2493C>T (p.Leu831=) n.2557C>T c.*334C>T (n.*334C>T) c.2553C>T (p.Leu851=) n.2603C>T c.2805C>T (p.Leu935=) c.2706C>T (p.Leu902=) c.3120C>T (p.Leu1040=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764580G>C | CA493693485 | GRIN2A | c.2964C>G (p.Leu988=) c.2493C>G (p.Leu831=) n.2557C>G c.*334C>G (n.*334C>G) c.2553C>G (p.Leu851=) n.2603C>G c.2805C>G (p.Leu935=) c.2706C>G (p.Leu902=) c.3120C>G (p.Leu1040=) | dbSNP |
| 16 | g.9764580G= | CA2206693311 | GRIN2A | c.2964C= (p.Leu988=) c.2493C= (p.Leu831=) n.2557C= c.*334C= (n.*334C=) c.2553C= (p.Leu851=) n.2603C= c.2805C= (p.Leu935=) c.2706C= (p.Leu902=) c.3120C= (p.Leu1040=) | |
| 16 | g.9764580G>T | CA493693484 | GRIN2A | c.2964C>A (p.Leu988=) c.2493C>A (p.Leu831=) n.2557C>A c.*334C>A (n.*334C>A) c.2553C>A (p.Leu851=) n.2603C>A c.2805C>A (p.Leu935=) c.2706C>A (p.Leu902=) c.3120C>A (p.Leu1040=) | |
| 16 | g.9764581A>C | CA394708964 | GRIN2A | c.2963T>G (p.Leu988Arg) c.2492T>G (p.Leu831Arg) n.2556T>G c.*333T>G (n.*333T>G) c.2552T>G (p.Leu851Arg) n.2602T>G c.2804T>G (p.Leu935Arg) c.2705T>G (p.Leu902Arg) c.3119T>G (p.Leu1040Arg) | |
| 16 | g.9764581A>G | CA394708965 | GRIN2A | c.2963T>C (p.Leu988Pro) c.2492T>C (p.Leu831Pro) n.2556T>C c.*333T>C (n.*333T>C) c.2552T>C (p.Leu851Pro) n.2602T>C c.2804T>C (p.Leu935Pro) c.2705T>C (p.Leu902Pro) c.3119T>C (p.Leu1040Pro) | |
| 16 | g.9764581A>T | CA394708966 | GRIN2A | c.2963T>A (p.Leu988His) c.2492T>A (p.Leu831His) n.2556T>A c.*333T>A (n.*333T>A) c.2552T>A (p.Leu851His) n.2602T>A c.2804T>A (p.Leu935His) c.2705T>A (p.Leu902His) c.3119T>A (p.Leu1040His) | dbSNP |
| 16 | g.9764582G>A | CA394708967 | GRIN2A | c.2962C>T (p.Leu988Phe) c.2491C>T (p.Leu831Phe) n.2555C>T c.*332C>T (n.*332C>T) c.2551C>T (p.Leu851Phe) n.2601C>T c.2803C>T (p.Leu935Phe) c.2704C>T (p.Leu902Phe) c.3118C>T (p.Leu1040Phe) | dbSNP gnomAD v4 |
| 16 | g.9764582G>C | CA394708968 | GRIN2A | c.2962C>G (p.Leu988Val) c.2491C>G (p.Leu831Val) n.2555C>G c.*332C>G (n.*332C>G) c.2551C>G (p.Leu851Val) n.2601C>G c.2803C>G (p.Leu935Val) c.2704C>G (p.Leu902Val) c.3118C>G (p.Leu1040Val) | ClinVar gnomAD v4 |
| 16 | g.9764582G>T | CA394708969 | GRIN2A | c.2962C>A (p.Leu988Ile) c.2491C>A (p.Leu831Ile) n.2555C>A c.*332C>A (n.*332C>A) c.2551C>A (p.Leu851Ile) n.2601C>A c.2803C>A (p.Leu935Ile) c.2704C>A (p.Leu902Ile) c.3118C>A (p.Leu1040Ile) | dbSNP COSMIC |
| 16 | g.9764583A= | CA2206693312 | GRIN2A | c.2961T= (p.Thr987=) c.2490T= (p.Thr830=) n.2554T= c.*331T= (n.*331T=) c.2550T= (p.Thr850=) n.2600T= c.2802T= (p.Thr934=) c.2703T= (p.Thr901=) c.3117T= (p.Thr1039=) | |
| 16 | g.9764583A>C | CA7896400 | GRIN2A | c.2961T>G (p.Thr987=) c.2490T>G (p.Thr830=) n.2554T>G c.*331T>G (n.*331T>G) c.2550T>G (p.Thr850=) n.2600T>G c.2802T>G (p.Thr934=) c.2703T>G (p.Thr901=) c.3117T>G (p.Thr1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764583A>G | CA493693487 | GRIN2A | c.2961T>C (p.Thr987=) c.2490T>C (p.Thr830=) n.2554T>C c.*331T>C (n.*331T>C) c.2550T>C (p.Thr850=) n.2600T>C c.2802T>C (p.Thr934=) c.2703T>C (p.Thr901=) c.3117T>C (p.Thr1039=) | dbSNP gnomAD v4 |
| 16 | g.9764583A>T | CA493693488 | GRIN2A | c.2961T>A (p.Thr987=) c.2490T>A (p.Thr830=) n.2554T>A c.*331T>A (n.*331T>A) c.2550T>A (p.Thr850=) n.2600T>A c.2802T>A (p.Thr934=) c.2703T>A (p.Thr901=) c.3117T>A (p.Thr1039=) | |
| 16 | g.9764584G>A | CA7896401 | GRIN2A | c.2960C>T (p.Thr987Ile) c.2489C>T (p.Thr830Ile) n.2553C>T c.*330C>T (n.*330C>T) c.2549C>T (p.Thr850Ile) n.2599C>T c.2801C>T (p.Thr934Ile) c.2702C>T (p.Thr901Ile) c.3116C>T (p.Thr1039Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764584G>C | CA394708970 | GRIN2A | c.2960C>G (p.Thr987Ser) c.2489C>G (p.Thr830Ser) n.2553C>G c.*330C>G (n.*330C>G) c.2549C>G (p.Thr850Ser) n.2599C>G c.2801C>G (p.Thr934Ser) c.2702C>G (p.Thr901Ser) c.3116C>G (p.Thr1039Ser) | gnomAD v4 |
| 16 | g.9764584G= | CA2206693313 | GRIN2A | c.2960C= (p.Thr987=) c.2489C= (p.Thr830=) n.2553C= c.*330C= (n.*330C=) c.2549C= (p.Thr850=) n.2599C= c.2801C= (p.Thr934=) c.2702C= (p.Thr901=) c.3116C= (p.Thr1039=) | |
| 16 | g.9764584G>T | CA394708971 | GRIN2A | c.2960C>A (p.Thr987Asn) c.2489C>A (p.Thr830Asn) n.2553C>A c.*330C>A (n.*330C>A) c.2549C>A (p.Thr850Asn) n.2599C>A c.2801C>A (p.Thr934Asn) c.2702C>A (p.Thr901Asn) c.3116C>A (p.Thr1039Asn) | |
| 16 | g.9764585T>A | CA394708972 | GRIN2A | c.2959A>T (p.Thr987Ser) c.2488A>T (p.Thr830Ser) n.2552A>T c.*329A>T (n.*329A>T) c.2548A>T (p.Thr850Ser) n.2598A>T c.2800A>T (p.Thr934Ser) c.2701A>T (p.Thr901Ser) c.3115A>T (p.Thr1039Ser) | |
| 16 | g.9764585T>C | CA394708974 | GRIN2A | c.2959A>G (p.Thr987Ala) c.2488A>G (p.Thr830Ala) n.2552A>G c.*329A>G (n.*329A>G) c.2548A>G (p.Thr850Ala) n.2598A>G c.2800A>G (p.Thr934Ala) c.2701A>G (p.Thr901Ala) c.3115A>G (p.Thr1039Ala) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764585T>G | CA394708973 | GRIN2A | c.2959A>C (p.Thr987Pro) c.2488A>C (p.Thr830Pro) n.2552A>C c.*329A>C (n.*329A>C) c.2548A>C (p.Thr850Pro) n.2598A>C c.2800A>C (p.Thr934Pro) c.2701A>C (p.Thr901Pro) c.3115A>C (p.Thr1039Pro) | gnomAD v4 |
| 16 | g.9764586A= | CA2206693314 | GRIN2A | c.2958T= (p.Leu986=) c.2487T= (p.Leu829=) n.2551T= c.*328T= (n.*328T=) c.2547T= (p.Leu849=) n.2597T= c.2799T= (p.Leu933=) c.2700T= (p.Leu900=) c.3114T= (p.Leu1038=) | |
| 16 | g.9764586A>C | CA16607570 | GRIN2A | c.2958T>G (p.Leu986=) c.2487T>G (p.Leu829=) n.2551T>G c.*328T>G (n.*328T>G) c.2547T>G (p.Leu849=) n.2597T>G c.2799T>G (p.Leu933=) c.2700T>G (p.Leu900=) c.3114T>G (p.Leu1038=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764586A>G | CA493693491 | GRIN2A | c.2958T>C (p.Leu986=) c.2487T>C (p.Leu829=) n.2551T>C c.*328T>C (n.*328T>C) c.2547T>C (p.Leu849=) n.2597T>C c.2799T>C (p.Leu933=) c.2700T>C (p.Leu900=) c.3114T>C (p.Leu1038=) | |
| 16 | g.9764586A>T | CA493693492 | GRIN2A | c.2958T>A (p.Leu986=) c.2487T>A (p.Leu829=) n.2551T>A c.*328T>A (n.*328T>A) c.2547T>A (p.Leu849=) n.2597T>A c.2799T>A (p.Leu933=) c.2700T>A (p.Leu900=) c.3114T>A (p.Leu1038=) | |
| 16 | g.9764587A>C | CA394708975 | GRIN2A | c.2957T>G (p.Leu986Arg) c.2486T>G (p.Leu829Arg) n.2550T>G c.*327T>G (n.*327T>G) c.2546T>G (p.Leu849Arg) n.2596T>G c.2798T>G (p.Leu933Arg) c.2699T>G (p.Leu900Arg) c.3113T>G (p.Leu1038Arg) | |
| 16 | g.9764587A>G | CA394708976 | GRIN2A | c.2957T>C (p.Leu986Pro) c.2486T>C (p.Leu829Pro) n.2550T>C c.*327T>C (n.*327T>C) c.2546T>C (p.Leu849Pro) n.2596T>C c.2798T>C (p.Leu933Pro) c.2699T>C (p.Leu900Pro) c.3113T>C (p.Leu1038Pro) | |
| 16 | g.9764587A>T | CA394708977 | GRIN2A | c.2957T>A (p.Leu986His) c.2486T>A (p.Leu829His) n.2550T>A c.*327T>A (n.*327T>A) c.2546T>A (p.Leu849His) n.2596T>A c.2798T>A (p.Leu933His) c.2699T>A (p.Leu900His) c.3113T>A (p.Leu1038His) | |
| 16 | g.9764588G>A | CA394708978 | GRIN2A | c.2956C>T (p.Leu986Phe) c.2485C>T (p.Leu829Phe) n.2549C>T c.*326C>T (n.*326C>T) c.2545C>T (p.Leu849Phe) n.2595C>T c.2797C>T (p.Leu933Phe) c.2698C>T (p.Leu900Phe) c.3112C>T (p.Leu1038Phe) | |
| 16 | g.9764588G>C | CA394708979 | GRIN2A | c.2956C>G (p.Leu986Val) c.2485C>G (p.Leu829Val) n.2549C>G c.*326C>G (n.*326C>G) c.2545C>G (p.Leu849Val) n.2595C>G c.2797C>G (p.Leu933Val) c.2698C>G (p.Leu900Val) c.3112C>G (p.Leu1038Val) | dbSNP gnomAD v4 |
| 16 | g.9764588G>T | CA394708980 | GRIN2A | c.2956C>A (p.Leu986Ile) c.2485C>A (p.Leu829Ile) n.2549C>A c.*326C>A (n.*326C>A) c.2545C>A (p.Leu849Ile) n.2595C>A c.2797C>A (p.Leu933Ile) c.2698C>A (p.Leu900Ile) c.3112C>A (p.Leu1038Ile) | |
| 16 | g.9764589A>C | CA493693494 | GRIN2A | c.2955T>G (p.Pro985=) c.2484T>G (p.Pro828=) n.2548T>G c.*325T>G (n.*325T>G) c.2544T>G (p.Pro848=) n.2594T>G c.2796T>G (p.Pro932=) c.2697T>G (p.Pro899=) c.3111T>G (p.Pro1037=) | |
| 16 | g.9764589A>G | CA493693495 | GRIN2A | c.2955T>C (p.Pro985=) c.2484T>C (p.Pro828=) n.2548T>C c.*325T>C (n.*325T>C) c.2544T>C (p.Pro848=) n.2594T>C c.2796T>C (p.Pro932=) c.2697T>C (p.Pro899=) c.3111T>C (p.Pro1037=) | |
| 16 | g.9764589A>T | CA493693496 | GRIN2A | c.2955T>A (p.Pro985=) c.2484T>A (p.Pro828=) n.2548T>A c.*325T>A (n.*325T>A) c.2544T>A (p.Pro848=) n.2594T>A c.2796T>A (p.Pro932=) c.2697T>A (p.Pro899=) c.3111T>A (p.Pro1037=) | |
| 16 | g.9764590G>A | CA394708981 | GRIN2A | c.2954C>T (p.Pro985Leu) c.2483C>T (p.Pro828Leu) n.2547C>T c.*324C>T (n.*324C>T) c.2543C>T (p.Pro848Leu) n.2593C>T c.2795C>T (p.Pro932Leu) c.2696C>T (p.Pro899Leu) c.3110C>T (p.Pro1037Leu) | dbSNP gnomAD v4 COSMIC |
| 16 | g.9764590G>C | CA394708982 | GRIN2A | c.2954C>G (p.Pro985Arg) c.2483C>G (p.Pro828Arg) n.2547C>G c.*324C>G (n.*324C>G) c.2543C>G (p.Pro848Arg) n.2593C>G c.2795C>G (p.Pro932Arg) c.2696C>G (p.Pro899Arg) c.3110C>G (p.Pro1037Arg) | |
| 16 | g.9764590G>T | CA394708983 | GRIN2A | c.2954C>A (p.Pro985His) c.2483C>A (p.Pro828His) n.2547C>A c.*324C>A (n.*324C>A) c.2543C>A (p.Pro848His) n.2593C>A c.2795C>A (p.Pro932His) c.2696C>A (p.Pro899His) c.3110C>A (p.Pro1037His) | |
| 16 | g.9764591G>A | CA394708986 | GRIN2A | c.2953C>T (p.Pro985Ser) c.2482C>T (p.Pro828Ser) n.2546C>T c.*323C>T (n.*323C>T) c.2542C>T (p.Pro848Ser) n.2592C>T c.2794C>T (p.Pro932Ser) c.2695C>T (p.Pro899Ser) c.3109C>T (p.Pro1037Ser) | ClinVar gnomAD v4 |
| 16 | g.9764591G>C | CA394708985 | GRIN2A | c.2953C>G (p.Pro985Ala) c.2482C>G (p.Pro828Ala) n.2546C>G c.*323C>G (n.*323C>G) c.2542C>G (p.Pro848Ala) n.2592C>G c.2794C>G (p.Pro932Ala) c.2695C>G (p.Pro899Ala) c.3109C>G (p.Pro1037Ala) | dbSNP |
| 16 | g.9764591G>T | CA394708984 | GRIN2A | c.2953C>A (p.Pro985Thr) c.2482C>A (p.Pro828Thr) n.2546C>A c.*323C>A (n.*323C>A) c.2542C>A (p.Pro848Thr) n.2592C>A c.2794C>A (p.Pro932Thr) c.2695C>A (p.Pro899Thr) c.3109C>A (p.Pro1037Thr) | |
| 16 | g.9764592A>C | CA394708987 | GRIN2A | c.2952T>G (p.His984Gln) c.2481T>G (p.His827Gln) n.2545T>G c.*322T>G (n.*322T>G) c.2541T>G (p.His847Gln) n.2591T>G c.2793T>G (p.His931Gln) c.2694T>G (p.His898Gln) c.3108T>G (p.His1036Gln) | |
| 16 | g.9764592A>G | CA493693498 | GRIN2A | c.2952T>C (p.His984=) c.2481T>C (p.His827=) n.2545T>C c.*322T>C (n.*322T>C) c.2541T>C (p.His847=) n.2591T>C c.2793T>C (p.His931=) c.2694T>C (p.His898=) c.3108T>C (p.His1036=) | |
| 16 | g.9764592A>T | CA394708988 | GRIN2A | c.2952T>A (p.His984Gln) c.2481T>A (p.His827Gln) n.2545T>A c.*322T>A (n.*322T>A) c.2541T>A (p.His847Gln) n.2591T>A c.2793T>A (p.His931Gln) c.2694T>A (p.His898Gln) c.3108T>A (p.His1036Gln) | |
| 16 | g.9764593T>A | CA394708989 | GRIN2A | c.2951A>T (p.His984Leu) c.2480A>T (p.His827Leu) n.2544A>T c.*321A>T (n.*321A>T) c.2540A>T (p.His847Leu) n.2590A>T c.2792A>T (p.His931Leu) c.2693A>T (p.His898Leu) c.3107A>T (p.His1036Leu) | |
| 16 | g.9764593T>C | CA394708990 | GRIN2A | c.2951A>G (p.His984Arg) c.2480A>G (p.His827Arg) n.2544A>G c.*321A>G (n.*321A>G) c.2540A>G (p.His847Arg) n.2590A>G c.2792A>G (p.His931Arg) c.2693A>G (p.His898Arg) c.3107A>G (p.His1036Arg) | gnomAD v4 |
| 16 | g.9764593T>G | CA394708991 | GRIN2A | c.2951A>C (p.His984Pro) c.2480A>C (p.His827Pro) n.2544A>C c.*321A>C (n.*321A>C) c.2540A>C (p.His847Pro) n.2590A>C c.2792A>C (p.His931Pro) c.2693A>C (p.His898Pro) c.3107A>C (p.His1036Pro) | dbSNP |
| 16 | g.9764594G>A | CA394708992 | GRIN2A | c.2950C>T (p.His984Tyr) c.2479C>T (p.His827Tyr) n.2543C>T c.*320C>T (n.*320C>T) c.2539C>T (p.His847Tyr) n.2589C>T c.2791C>T (p.His931Tyr) c.2692C>T (p.His898Tyr) c.3106C>T (p.His1036Tyr) | dbSNP |
| 16 | g.9764594G>C | CA394708993 | GRIN2A | c.2950C>G (p.His984Asp) c.2479C>G (p.His827Asp) n.2543C>G c.*320C>G (n.*320C>G) c.2539C>G (p.His847Asp) n.2589C>G c.2791C>G (p.His931Asp) c.2692C>G (p.His898Asp) c.3106C>G (p.His1036Asp) | |
| 16 | g.9764594G>T | CA394708994 | GRIN2A | c.2950C>A (p.His984Asn) c.2479C>A (p.His827Asn) n.2543C>A c.*320C>A (n.*320C>A) c.2539C>A (p.His847Asn) n.2589C>A c.2791C>A (p.His931Asn) c.2692C>A (p.His898Asn) c.3106C>A (p.His1036Asn) | |
| 16 | g.9764595T>A | CA394708995 | GRIN2A | c.2949A>T (p.Gln983His) c.2478A>T (p.Gln826His) n.2542A>T c.*319A>T (n.*319A>T) c.2538A>T (p.Gln846His) n.2588A>T c.2790A>T (p.Gln930His) c.2691A>T (p.Gln897His) c.3105A>T (p.Gln1035His) | |
| 16 | g.9764595T>C | CA493693500 | GRIN2A | c.2949A>G (p.Gln983=) c.2478A>G (p.Gln826=) n.2542A>G c.*319A>G (n.*319A>G) c.2538A>G (p.Gln846=) n.2588A>G c.2790A>G (p.Gln930=) c.2691A>G (p.Gln897=) c.3105A>G (p.Gln1035=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764595T>G | CA394708996 | GRIN2A | c.2949A>C (p.Gln983His) c.2478A>C (p.Gln826His) n.2542A>C c.*319A>C (n.*319A>C) c.2538A>C (p.Gln846His) n.2588A>C c.2790A>C (p.Gln930His) c.2691A>C (p.Gln897His) c.3105A>C (p.Gln1035His) | |
| 16 | g.9764596T>A | CA394708997 | GRIN2A | c.2948A>T (p.Gln983Leu) c.2477A>T (p.Gln826Leu) n.2541A>T c.*318A>T (n.*318A>T) c.2537A>T (p.Gln846Leu) n.2587A>T c.2789A>T (p.Gln930Leu) c.2690A>T (p.Gln897Leu) c.3104A>T (p.Gln1035Leu) | |
| 16 | g.9764596T>C | CA394708998 | GRIN2A | c.2948A>G (p.Gln983Arg) c.2477A>G (p.Gln826Arg) n.2541A>G c.*318A>G (n.*318A>G) c.2537A>G (p.Gln846Arg) n.2587A>G c.2789A>G (p.Gln930Arg) c.2690A>G (p.Gln897Arg) c.3104A>G (p.Gln1035Arg) | |
| 16 | g.9764596T>G | CA394708999 | GRIN2A | c.2948A>C (p.Gln983Pro) c.2477A>C (p.Gln826Pro) n.2541A>C c.*318A>C (n.*318A>C) c.2537A>C (p.Gln846Pro) n.2587A>C c.2789A>C (p.Gln930Pro) c.2690A>C (p.Gln897Pro) c.3104A>C (p.Gln1035Pro) | |
| 16 | g.9764597G>A | CA394709000 | GRIN2A | c.2947C>T (p.Gln983Ter) c.2476C>T (p.Gln826Ter) n.2540C>T c.*317C>T (n.*317C>T) c.2536C>T (p.Gln846Ter) n.2586C>T c.2788C>T (p.Gln930Ter) c.2689C>T (p.Gln897Ter) c.3103C>T (p.Gln1035Ter) | dbSNP |
| 16 | g.9764597G>C | CA394709002 | GRIN2A | c.2947C>G (p.Gln983Glu) c.2476C>G (p.Gln826Glu) n.2540C>G c.*317C>G (n.*317C>G) c.2536C>G (p.Gln846Glu) n.2586C>G c.2788C>G (p.Gln930Glu) c.2689C>G (p.Gln897Glu) c.3103C>G (p.Gln1035Glu) | dbSNP |
| 16 | g.9764597G= | CA2206693315 | GRIN2A | c.2947C= (p.Gln983=) c.2476C= (p.Gln826=) n.2540C= c.*317C= (n.*317C=) c.2536C= (p.Gln846=) n.2586C= c.2788C= (p.Gln930=) c.2689C= (p.Gln897=) c.3103C= (p.Gln1035=) | |
| 16 | g.9764597G>T | CA394709001 | GRIN2A | c.2947C>A (p.Gln983Lys) c.2476C>A (p.Gln826Lys) n.2540C>A c.*317C>A (n.*317C>A) c.2536C>A (p.Gln846Lys) n.2586C>A c.2788C>A (p.Gln930Lys) c.2689C>A (p.Gln897Lys) c.3103C>A (p.Gln1035Lys) | dbSNP |
| 16 | g.9764598T>A | CA493693503 | GRIN2A | c.2946A>T (p.Gly982=) c.2475A>T (p.Gly825=) n.2539A>T c.*316A>T (n.*316A>T) c.2535A>T (p.Gly845=) n.2585A>T c.2787A>T (p.Gly929=) c.2688A>T (p.Gly896=) c.3102A>T (p.Gly1034=) | dbSNP |
| 16 | g.9764598T>C | CA493693504 | GRIN2A | c.2946A>G (p.Gly982=) c.2475A>G (p.Gly825=) n.2539A>G c.*316A>G (n.*316A>G) c.2535A>G (p.Gly845=) n.2585A>G c.2787A>G (p.Gly929=) c.2688A>G (p.Gly896=) c.3102A>G (p.Gly1034=) | |
| 16 | g.9764598T>G | CA493693505 | GRIN2A | c.2946A>C (p.Gly982=) c.2475A>C (p.Gly825=) n.2539A>C c.*316A>C (n.*316A>C) c.2535A>C (p.Gly845=) n.2585A>C c.2787A>C (p.Gly929=) c.2688A>C (p.Gly896=) c.3102A>C (p.Gly1034=) | dbSNP |
| 16 | g.9764599C>A | CA394709003 | GRIN2A | c.2945G>T (p.Gly982Val) c.2474G>T (p.Gly825Val) n.2538G>T c.*315G>T (n.*315G>T) c.2534G>T (p.Gly845Val) n.2584G>T c.2786G>T (p.Gly929Val) c.2687G>T (p.Gly896Val) c.3101G>T (p.Gly1034Val) | dbSNP |
| 16 | g.9764599C= | CA2206693316 | GRIN2A | c.2945G= (p.Gly982=) c.2474G= (p.Gly825=) n.2538G= c.*315G= (n.*315G=) c.2534G= (p.Gly845=) n.2584G= c.2786G= (p.Gly929=) c.2687G= (p.Gly896=) c.3101G= (p.Gly1034=) | |
| 16 | g.9764599C>G | CA394709004 | GRIN2A | c.2945G>C (p.Gly982Ala) c.2474G>C (p.Gly825Ala) n.2538G>C c.*315G>C (n.*315G>C) c.2534G>C (p.Gly845Ala) n.2584G>C c.2786G>C (p.Gly929Ala) c.2687G>C (p.Gly896Ala) c.3101G>C (p.Gly1034Ala) | dbSNP |
| 16 | g.9764599C>T | CA7896402 | GRIN2A | c.2945G>A (p.Gly982Glu) c.2474G>A (p.Gly825Glu) n.2538G>A c.*315G>A (n.*315G>A) c.2534G>A (p.Gly845Glu) n.2584G>A c.2786G>A (p.Gly929Glu) c.2687G>A (p.Gly896Glu) c.3101G>A (p.Gly1034Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764600C>A | CA394709005 | GRIN2A | c.2944G>T (p.Gly982Ter) c.2473G>T (p.Gly825Ter) n.2537G>T c.*314G>T (n.*314G>T) c.2533G>T (p.Gly845Ter) n.2583G>T c.2785G>T (p.Gly929Ter) c.2686G>T (p.Gly896Ter) c.3100G>T (p.Gly1034Ter) | dbSNP |
| 16 | g.9764600C= | CA2206693317 | GRIN2A | c.2944G= (p.Gly982=) c.2473G= (p.Gly825=) n.2537G= c.*314G= (n.*314G=) c.2533G= (p.Gly845=) n.2583G= c.2785G= (p.Gly929=) c.2686G= (p.Gly896=) c.3100G= (p.Gly1034=) | |
| 16 | g.9764600C>G | CA394709006 | GRIN2A | c.2944G>C (p.Gly982Arg) c.2473G>C (p.Gly825Arg) n.2537G>C c.*314G>C (n.*314G>C) c.2533G>C (p.Gly845Arg) n.2583G>C c.2785G>C (p.Gly929Arg) c.2686G>C (p.Gly896Arg) c.3100G>C (p.Gly1034Arg) | |
| 16 | g.9764600C>T | CA394709007 | GRIN2A | c.2944G>A (p.Gly982Arg) c.2473G>A (p.Gly825Arg) n.2537G>A c.*314G>A (n.*314G>A) c.2533G>A (p.Gly845Arg) n.2583G>A c.2785G>A (p.Gly929Arg) c.2686G>A (p.Gly896Arg) c.3100G>A (p.Gly1034Arg) | dbSNP |
| 16 | g.9764601C>A | CA394709008 | GRIN2A | c.2943G>T (p.Gln981His) c.2472G>T (p.Gln824His) n.2536G>T c.*313G>T (n.*313G>T) c.2532G>T (p.Gln844His) n.2582G>T c.2784G>T (p.Gln928His) c.2685G>T (p.Gln895His) c.3099G>T (p.Gln1033His) | dbSNP |
| 16 | g.9764601C>G | CA394709009 | GRIN2A | c.2943G>C (p.Gln981His) c.2472G>C (p.Gln824His) n.2536G>C c.*313G>C (n.*313G>C) c.2532G>C (p.Gln844His) n.2582G>C c.2784G>C (p.Gln928His) c.2685G>C (p.Gln895His) c.3099G>C (p.Gln1033His) | |
| 16 | g.9764601C>T | CA493693509 | GRIN2A | c.2943G>A (p.Gln981=) c.2472G>A (p.Gln824=) n.2536G>A c.*313G>A (n.*313G>A) c.2532G>A (p.Gln844=) n.2582G>A c.2784G>A (p.Gln928=) c.2685G>A (p.Gln895=) c.3099G>A (p.Gln1033=) | dbSNP |
| 16 | g.9764602T>A | CA394709010 | GRIN2A | c.2942A>T (p.Gln981Leu) c.2471A>T (p.Gln824Leu) n.2535A>T c.*312A>T (n.*312A>T) c.2531A>T (p.Gln844Leu) n.2581A>T c.2783A>T (p.Gln928Leu) c.2684A>T (p.Gln895Leu) c.3098A>T (p.Gln1033Leu) | |
| 16 | g.9764602T>C | CA394709011 | GRIN2A | c.2942A>G (p.Gln981Arg) c.2471A>G (p.Gln824Arg) n.2535A>G c.*312A>G (n.*312A>G) c.2531A>G (p.Gln844Arg) n.2581A>G c.2783A>G (p.Gln928Arg) c.2684A>G (p.Gln895Arg) c.3098A>G (p.Gln1033Arg) | dbSNP |
| 16 | g.9764602T>G | CA394709012 | GRIN2A | c.2942A>C (p.Gln981Pro) c.2471A>C (p.Gln824Pro) n.2535A>C c.*312A>C (n.*312A>C) c.2531A>C (p.Gln844Pro) n.2581A>C c.2783A>C (p.Gln928Pro) c.2684A>C (p.Gln895Pro) c.3098A>C (p.Gln1033Pro) | |
| 16 | g.9764602T= | CA2206693318 | GRIN2A | c.2942A= (p.Gln981=) c.2471A= (p.Gln824=) n.2535A= c.*312A= (n.*312A=) c.2531A= (p.Gln844=) n.2581A= c.2783A= (p.Gln928=) c.2684A= (p.Gln895=) c.3098A= (p.Gln1033=) | |
| 16 | g.9764603G>A | CA394709015 | GRIN2A | c.2941C>T (p.Gln981Ter) c.2470C>T (p.Gln824Ter) n.2534C>T c.*311C>T (n.*311C>T) c.2530C>T (p.Gln844Ter) n.2580C>T c.2782C>T (p.Gln928Ter) c.2683C>T (p.Gln895Ter) c.3097C>T (p.Gln1033Ter) | dbSNP |
| 16 | g.9764603G>C | CA394709014 | GRIN2A | c.2941C>G (p.Gln981Glu) c.2470C>G (p.Gln824Glu) n.2534C>G c.*311C>G (n.*311C>G) c.2530C>G (p.Gln844Glu) n.2580C>G c.2782C>G (p.Gln928Glu) c.2683C>G (p.Gln895Glu) c.3097C>G (p.Gln1033Glu) | dbSNP |
| 16 | g.9764603G= | CA2206693319 | GRIN2A | c.2941C= (p.Gln981=) c.2470C= (p.Gln824=) n.2534C= c.*311C= (n.*311C=) c.2530C= (p.Gln844=) n.2580C= c.2782C= (p.Gln928=) c.2683C= (p.Gln895=) c.3097C= (p.Gln1033=) | |
| 16 | g.9764603G>T | CA394709013 | GRIN2A | c.2941C>A (p.Gln981Lys) c.2470C>A (p.Gln824Lys) n.2534C>A c.*311C>A (n.*311C>A) c.2530C>A (p.Gln844Lys) n.2580C>A c.2782C>A (p.Gln928Lys) c.2683C>A (p.Gln895Lys) c.3097C>A (p.Gln1033Lys) | |
| 16 | g.9764604G>A | CA493693060 | GRIN2A | c.2940C>T (p.Phe980=) c.2469C>T (p.Phe823=) n.2533C>T c.*310C>T (n.*310C>T) c.2529C>T (p.Phe843=) n.2579C>T c.2781C>T (p.Phe927=) c.2682C>T (p.Phe894=) c.3096C>T (p.Phe1032=) | dbSNP |
| 16 | g.9764604G>C | CA394709017 | GRIN2A | c.2940C>G (p.Phe980Leu) c.2469C>G (p.Phe823Leu) n.2533C>G c.*310C>G (n.*310C>G) c.2529C>G (p.Phe843Leu) n.2579C>G c.2781C>G (p.Phe927Leu) c.2682C>G (p.Phe894Leu) c.3096C>G (p.Phe1032Leu) | dbSNP |
| 16 | g.9764604G= | CA2206693320 | GRIN2A | c.2940C= (p.Phe980=) c.2469C= (p.Phe823=) n.2533C= c.*310C= (n.*310C=) c.2529C= (p.Phe843=) n.2579C= c.2781C= (p.Phe927=) c.2682C= (p.Phe894=) c.3096C= (p.Phe1032=) | |
| 16 | g.9764604G>T | CA394709016 | GRIN2A | c.2940C>A (p.Phe980Leu) c.2469C>A (p.Phe823Leu) n.2533C>A c.*310C>A (n.*310C>A) c.2529C>A (p.Phe843Leu) n.2579C>A c.2781C>A (p.Phe927Leu) c.2682C>A (p.Phe894Leu) c.3096C>A (p.Phe1032Leu) | ClinVar dbSNP |
| 16 | g.9764605A= | CA2206693321 | GRIN2A | c.2939T= (p.Phe980=) c.2468T= (p.Phe823=) n.2532T= c.*309T= (n.*309T=) c.2528T= (p.Phe843=) n.2578T= c.2780T= (p.Phe927=) c.2681T= (p.Phe894=) c.3095T= (p.Phe1032=) | |
| 16 | g.9764605A>C | CA394709020 | GRIN2A | c.2939T>G (p.Phe980Cys) c.2468T>G (p.Phe823Cys) n.2532T>G c.*309T>G (n.*309T>G) c.2528T>G (p.Phe843Cys) n.2578T>G c.2780T>G (p.Phe927Cys) c.2681T>G (p.Phe894Cys) c.3095T>G (p.Phe1032Cys) | |
| 16 | g.9764605A>G | CA394709018 | GRIN2A | c.2939T>C (p.Phe980Ser) c.2468T>C (p.Phe823Ser) n.2532T>C c.*309T>C (n.*309T>C) c.2528T>C (p.Phe843Ser) n.2578T>C c.2780T>C (p.Phe927Ser) c.2681T>C (p.Phe894Ser) c.3095T>C (p.Phe1032Ser) | dbSNP |
| 16 | g.9764605A>T | CA394709019 | GRIN2A | c.2939T>A (p.Phe980Tyr) c.2468T>A (p.Phe823Tyr) n.2532T>A c.*309T>A (n.*309T>A) c.2528T>A (p.Phe843Tyr) n.2578T>A c.2780T>A (p.Phe927Tyr) c.2681T>A (p.Phe894Tyr) c.3095T>A (p.Phe1032Tyr) | |
| 16 | g.9764606A>C | CA394709021 | GRIN2A | c.2938T>G (p.Phe980Val) c.2467T>G (p.Phe823Val) n.2531T>G c.*308T>G (n.*308T>G) c.2527T>G (p.Phe843Val) n.2577T>G c.2779T>G (p.Phe927Val) c.2680T>G (p.Phe894Val) c.3094T>G (p.Phe1032Val) | |
| 16 | g.9764606A>G | CA394709022 | GRIN2A | c.2938T>C (p.Phe980Leu) c.2467T>C (p.Phe823Leu) n.2531T>C c.*308T>C (n.*308T>C) c.2527T>C (p.Phe843Leu) n.2577T>C c.2779T>C (p.Phe927Leu) c.2680T>C (p.Phe894Leu) c.3094T>C (p.Phe1032Leu) | dbSNP |
| 16 | g.9764606A>T | CA394709023 | GRIN2A | c.2938T>A (p.Phe980Ile) c.2467T>A (p.Phe823Ile) n.2531T>A c.*308T>A (n.*308T>A) c.2527T>A (p.Phe843Ile) n.2577T>A c.2779T>A (p.Phe927Ile) c.2680T>A (p.Phe894Ile) c.3094T>A (p.Phe1032Ile) | |
| 16 | g.9764607T>A | CA493693064 | GRIN2A | c.2937A>T (p.Val979=) c.2466A>T (p.Val822=) n.2530A>T c.*307A>T (n.*307A>T) c.2526A>T (p.Val842=) n.2576A>T c.2778A>T (p.Val926=) c.2679A>T (p.Val893=) c.3093A>T (p.Val1031=) | |
| 16 | g.9764607T>C | CA493693065 | GRIN2A | c.2937A>G (p.Val979=) c.2466A>G (p.Val822=) n.2530A>G c.*307A>G (n.*307A>G) c.2526A>G (p.Val842=) n.2576A>G c.2778A>G (p.Val926=) c.2679A>G (p.Val893=) c.3093A>G (p.Val1031=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.9764607T>G | CA493693066 | GRIN2A | c.2937A>C (p.Val979=) c.2466A>C (p.Val822=) n.2530A>C c.*307A>C (n.*307A>C) c.2526A>C (p.Val842=) n.2576A>C c.2778A>C (p.Val926=) c.2679A>C (p.Val893=) c.3093A>C (p.Val1031=) | dbSNP |
| 16 | g.9764608A>C | CA394709024 | GRIN2A | c.2936T>G (p.Val979Gly) c.2465T>G (p.Val822Gly) n.2529T>G c.*306T>G (n.*306T>G) c.2525T>G (p.Val842Gly) n.2575T>G c.2777T>G (p.Val926Gly) c.2678T>G (p.Val893Gly) c.3092T>G (p.Val1031Gly) | |
| 16 | g.9764608A>G | CA394709025 | GRIN2A | c.2936T>C (p.Val979Ala) c.2465T>C (p.Val822Ala) n.2529T>C c.*306T>C (n.*306T>C) c.2525T>C (p.Val842Ala) n.2575T>C c.2777T>C (p.Val926Ala) c.2678T>C (p.Val893Ala) c.3092T>C (p.Val1031Ala) | |
| 16 | g.9764608A>T | CA394709026 | GRIN2A | c.2936T>A (p.Val979Glu) c.2465T>A (p.Val822Glu) n.2529T>A c.*306T>A (n.*306T>A) c.2525T>A (p.Val842Glu) n.2575T>A c.2777T>A (p.Val926Glu) c.2678T>A (p.Val893Glu) c.3092T>A (p.Val1031Glu) | dbSNP |
| 16 | g.9764609C>A | CA394709027 | GRIN2A | c.2935G>T (p.Val979Leu) c.2464G>T (p.Val822Leu) n.2528G>T c.*305G>T (n.*305G>T) c.2524G>T (p.Val842Leu) n.2574G>T c.2776G>T (p.Val926Leu) c.2677G>T (p.Val893Leu) c.3091G>T (p.Val1031Leu) | |
| 16 | g.9764609C= | CA2206693322 | GRIN2A | c.2935G= (p.Val979=) c.2464G= (p.Val822=) n.2528G= c.*305G= (n.*305G=) c.2524G= (p.Val842=) n.2574G= c.2776G= (p.Val926=) c.2677G= (p.Val893=) c.3091G= (p.Val1031=) | |
| 16 | g.9764609C>G | CA394709028 | GRIN2A | c.2935G>C (p.Val979Leu) c.2464G>C (p.Val822Leu) n.2528G>C c.*305G>C (n.*305G>C) c.2524G>C (p.Val842Leu) n.2574G>C c.2776G>C (p.Val926Leu) c.2677G>C (p.Val893Leu) c.3091G>C (p.Val1031Leu) | dbSNP |
| 16 | g.9764609C>T | CA277538244 | GRIN2A | c.2935G>A (p.Val979Ile) c.2464G>A (p.Val822Ile) n.2528G>A c.*305G>A (n.*305G>A) c.2524G>A (p.Val842Ile) n.2574G>A c.2776G>A (p.Val926Ile) c.2677G>A (p.Val893Ile) c.3091G>A (p.Val1031Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764610A= | CA2206693323 | GRIN2A | c.2934T= (p.Tyr978=) c.2463T= (p.Tyr821=) n.2527T= c.*304T= (n.*304T=) c.2523T= (p.Tyr841=) n.2573T= c.2775T= (p.Tyr925=) c.2676T= (p.Tyr892=) c.3090T= (p.Tyr1030=) | |
| 16 | g.9764610A>C | CA394709029 | GRIN2A | c.2934T>G (p.Tyr978Ter) c.2463T>G (p.Tyr821Ter) n.2527T>G c.*304T>G (n.*304T>G) c.2523T>G (p.Tyr841Ter) n.2573T>G c.2775T>G (p.Tyr925Ter) c.2676T>G (p.Tyr892Ter) c.3090T>G (p.Tyr1030Ter) | dbSNP |
| 16 | g.9764610A>G | CA493693071 | GRIN2A | c.2934T>C (p.Tyr978=) c.2463T>C (p.Tyr821=) n.2527T>C c.*304T>C (n.*304T>C) c.2523T>C (p.Tyr841=) n.2573T>C c.2775T>C (p.Tyr925=) c.2676T>C (p.Tyr892=) c.3090T>C (p.Tyr1030=) | gnomAD v4 |
| 16 | g.9764610A>T | CA394709030 | GRIN2A | c.2934T>A (p.Tyr978Ter) c.2463T>A (p.Tyr821Ter) n.2527T>A c.*304T>A (n.*304T>A) c.2523T>A (p.Tyr841Ter) n.2573T>A c.2775T>A (p.Tyr925Ter) c.2676T>A (p.Tyr892Ter) c.3090T>A (p.Tyr1030Ter) | dbSNP |
| 16 | g.9764611T>A | CA394709031 | GRIN2A | c.2933A>T (p.Tyr978Phe) c.2462A>T (p.Tyr821Phe) n.2526A>T c.*303A>T (n.*303A>T) c.2522A>T (p.Tyr841Phe) n.2572A>T c.2774A>T (p.Tyr925Phe) c.2675A>T (p.Tyr892Phe) c.3089A>T (p.Tyr1030Phe) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9764611T>C | CA277538262 | GRIN2A | c.2933A>G (p.Tyr978Cys) c.2462A>G (p.Tyr821Cys) n.2526A>G c.*303A>G (n.*303A>G) c.2522A>G (p.Tyr841Cys) n.2572A>G c.2774A>G (p.Tyr925Cys) c.2675A>G (p.Tyr892Cys) c.3089A>G (p.Tyr1030Cys) | dbSNP gnomAD v4 |
| 16 | g.9764611T>G | CA394709032 | GRIN2A | c.2933A>C (p.Tyr978Ser) c.2462A>C (p.Tyr821Ser) n.2526A>C c.*303A>C (n.*303A>C) c.2522A>C (p.Tyr841Ser) n.2572A>C c.2774A>C (p.Tyr925Ser) c.2675A>C (p.Tyr892Ser) c.3089A>C (p.Tyr1030Ser) | gnomAD v4 |
| 16 | g.9764611T= | CA2206693324 | GRIN2A | c.2933A= (p.Tyr978=) c.2462A= (p.Tyr821=) n.2526A= c.*303A= (n.*303A=) c.2522A= (p.Tyr841=) n.2572A= c.2774A= (p.Tyr925=) c.2675A= (p.Tyr892=) c.3089A= (p.Tyr1030=) | |
| 16 | g.9764612A>C | CA394709033 | GRIN2A | c.2932T>G (p.Tyr978Asp) c.2461T>G (p.Tyr821Asp) n.2525T>G c.*302T>G (n.*302T>G) c.2521T>G (p.Tyr841Asp) n.2571T>G c.2773T>G (p.Tyr925Asp) c.2674T>G (p.Tyr892Asp) c.3088T>G (p.Tyr1030Asp) | |
| 16 | g.9764612A>G | CA394709034 | GRIN2A | c.2932T>C (p.Tyr978His) c.2461T>C (p.Tyr821His) n.2525T>C c.*302T>C (n.*302T>C) c.2521T>C (p.Tyr841His) n.2571T>C c.2773T>C (p.Tyr925His) c.2674T>C (p.Tyr892His) c.3088T>C (p.Tyr1030His) | |
| 16 | g.9764612A>T | CA394709035 | GRIN2A | c.2932T>A (p.Tyr978Asn) c.2461T>A (p.Tyr821Asn) n.2525T>A c.*302T>A (n.*302T>A) c.2521T>A (p.Tyr841Asn) n.2571T>A c.2773T>A (p.Tyr925Asn) c.2674T>A (p.Tyr892Asn) c.3088T>A (p.Tyr1030Asn) | |
| 16 | g.9764613G>A | CA493693077 | GRIN2A | c.2931C>T (p.Asn977=) c.2460C>T (p.Asn820=) n.2524C>T c.*301C>T (n.*301C>T) c.2520C>T (p.Asn840=) n.2570C>T c.2772C>T (p.Asn924=) c.2673C>T (p.Asn891=) c.3087C>T (p.Asn1029=) | |
| 16 | g.9764613G>C | CA394709036 | GRIN2A | c.2931C>G (p.Asn977Lys) c.2460C>G (p.Asn820Lys) n.2524C>G c.*301C>G (n.*301C>G) c.2520C>G (p.Asn840Lys) n.2570C>G c.2772C>G (p.Asn924Lys) c.2673C>G (p.Asn891Lys) c.3087C>G (p.Asn1029Lys) | dbSNP |
| 16 | g.9764613G>T | CA394709037 | GRIN2A | c.2931C>A (p.Asn977Lys) c.2460C>A (p.Asn820Lys) n.2524C>A c.*301C>A (n.*301C>A) c.2520C>A (p.Asn840Lys) n.2570C>A c.2772C>A (p.Asn924Lys) c.2673C>A (p.Asn891Lys) c.3087C>A (p.Asn1029Lys) | dbSNP |
| 16 | g.9764614T>A | CA394709038 | GRIN2A | c.2930A>T (p.Asn977Ile) c.2459A>T (p.Asn820Ile) n.2523A>T c.*300A>T (n.*300A>T) c.2519A>T (p.Asn840Ile) n.2569A>T c.2771A>T (p.Asn924Ile) c.2672A>T (p.Asn891Ile) c.3086A>T (p.Asn1029Ile) | |
| 16 | g.9764614T>C | CA394709039 | GRIN2A | c.2930A>G (p.Asn977Ser) c.2459A>G (p.Asn820Ser) n.2523A>G c.*300A>G (n.*300A>G) c.2519A>G (p.Asn840Ser) n.2569A>G c.2771A>G (p.Asn924Ser) c.2672A>G (p.Asn891Ser) c.3086A>G (p.Asn1029Ser) | ClinVar dbSNP |
| 16 | g.9764614T>G | CA394709040 | GRIN2A | c.2930A>C (p.Asn977Thr) c.2459A>C (p.Asn820Thr) n.2523A>C c.*300A>C (n.*300A>C) c.2519A>C (p.Asn840Thr) n.2569A>C c.2771A>C (p.Asn924Thr) c.2672A>C (p.Asn891Thr) c.3086A>C (p.Asn1029Thr) | COSMIC |
| 16 | g.9764614T= | CA2206693325 | GRIN2A | c.2930A= (p.Asn977=) c.2459A= (p.Asn820=) n.2523A= c.*300A= (n.*300A=) c.2519A= (p.Asn840=) n.2569A= c.2771A= (p.Asn924=) c.2672A= (p.Asn891=) c.3086A= (p.Asn1029=) | |
| 16 | g.9764615T>A | CA394709041 | GRIN2A | c.2929A>T (p.Asn977Tyr) c.2458A>T (p.Asn820Tyr) n.2522A>T c.*299A>T (n.*299A>T) c.2518A>T (p.Asn840Tyr) n.2568A>T c.2770A>T (p.Asn924Tyr) c.2671A>T (p.Asn891Tyr) c.3085A>T (p.Asn1029Tyr) | |
| 16 | g.9764615T>C | CA394709042 | GRIN2A | c.2929A>G (p.Asn977Asp) c.2458A>G (p.Asn820Asp) n.2522A>G c.*299A>G (n.*299A>G) c.2518A>G (p.Asn840Asp) n.2568A>G c.2770A>G (p.Asn924Asp) c.2671A>G (p.Asn891Asp) c.3085A>G (p.Asn1029Asp) | |
| 16 | g.9764615T>G | CA7896403 | GRIN2A | c.2929A>C (p.Asn977His) c.2458A>C (p.Asn820His) n.2522A>C c.*299A>C (n.*299A>C) c.2518A>C (p.Asn840His) n.2568A>C c.2770A>C (p.Asn924His) c.2671A>C (p.Asn891His) c.3085A>C (p.Asn1029His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764615T= | CA2206693326 | GRIN2A | c.2929A= (p.Asn977=) c.2458A= (p.Asn820=) n.2522A= c.*299A= (n.*299A=) c.2518A= (p.Asn840=) n.2568A= c.2770A= (p.Asn924=) c.2671A= (p.Asn891=) c.3085A= (p.Asn1029=) | |
| 16 | g.9764616A= | CA2206693327 | GRIN2A | c.2928T= (p.Asn976=) c.2457T= (p.Asn819=) n.2521T= c.*298T= (n.*298T=) c.2517T= (p.Asn839=) n.2567T= c.2769T= (p.Asn923=) c.2670T= (p.Asn890=) c.3084T= (p.Asn1028=) | |
| 16 | g.9764616A>C | CA394709044 | GRIN2A | c.2928T>G (p.Asn976Lys) c.2457T>G (p.Asn819Lys) n.2521T>G c.*298T>G (n.*298T>G) c.2517T>G (p.Asn839Lys) n.2567T>G c.2769T>G (p.Asn923Lys) c.2670T>G (p.Asn890Lys) c.3084T>G (p.Asn1028Lys) | |
| 16 | g.9764616A>G | CA493693083 | GRIN2A | c.2928T>C (p.Asn976=) c.2457T>C (p.Asn819=) n.2521T>C c.*298T>C (n.*298T>C) c.2517T>C (p.Asn839=) n.2567T>C c.2769T>C (p.Asn923=) c.2670T>C (p.Asn890=) c.3084T>C (p.Asn1028=) | |
| 16 | g.9764616A>T | CA394709043 | GRIN2A | c.2928T>A (p.Asn976Lys) c.2457T>A (p.Asn819Lys) n.2521T>A c.*298T>A (n.*298T>A) c.2517T>A (p.Asn839Lys) n.2567T>A c.2769T>A (p.Asn923Lys) c.2670T>A (p.Asn890Lys) c.3084T>A (p.Asn1028Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764617T>A | CA394709045 | GRIN2A | c.2927A>T (p.Asn976Ile) c.2456A>T (p.Asn819Ile) n.2520A>T c.*297A>T (n.*297A>T) c.2516A>T (p.Asn839Ile) n.2566A>T c.2768A>T (p.Asn923Ile) c.2669A>T (p.Asn890Ile) c.3083A>T (p.Asn1028Ile) | |
| 16 | g.9764617T>C | CA10588015 | GRIN2A | c.2927A>G (p.Asn976Ser) c.2456A>G (p.Asn819Ser) n.2520A>G c.*297A>G (n.*297A>G) c.2516A>G (p.Asn839Ser) n.2566A>G c.2768A>G (p.Asn923Ser) c.2669A>G (p.Asn890Ser) c.3083A>G (p.Asn1028Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764617T>G | CA394709046 | GRIN2A | c.2927A>C (p.Asn976Thr) c.2456A>C (p.Asn819Thr) n.2520A>C c.*297A>C (n.*297A>C) c.2516A>C (p.Asn839Thr) n.2566A>C c.2768A>C (p.Asn923Thr) c.2669A>C (p.Asn890Thr) c.3083A>C (p.Asn1028Thr) | |
| 16 | g.9764617T= | CA2206693328 | GRIN2A | c.2927A= (p.Asn976=) c.2456A= (p.Asn819=) n.2520A= c.*297A= (n.*297A=) c.2516A= (p.Asn839=) n.2566A= c.2768A= (p.Asn923=) c.2669A= (p.Asn890=) c.3083A= (p.Asn1028=) | |
| 16 | g.9764618T>A | CA394709047 | GRIN2A | c.2926A>T (p.Asn976Tyr) c.2455A>T (p.Asn819Tyr) n.2519A>T c.*296A>T (n.*296A>T) c.2515A>T (p.Asn839Tyr) n.2565A>T c.2767A>T (p.Asn923Tyr) c.2668A>T (p.Asn890Tyr) c.3082A>T (p.Asn1028Tyr) | |
| 16 | g.9764618T>C | CA394709048 | GRIN2A | c.2926A>G (p.Asn976Asp) c.2455A>G (p.Asn819Asp) n.2519A>G c.*296A>G (n.*296A>G) c.2515A>G (p.Asn839Asp) n.2565A>G c.2767A>G (p.Asn923Asp) c.2668A>G (p.Asn890Asp) c.3082A>G (p.Asn1028Asp) | |
| 16 | g.9764618T>G | CA394709049 | GRIN2A | c.2926A>C (p.Asn976His) c.2455A>C (p.Asn819His) n.2519A>C c.*296A>C (n.*296A>C) c.2515A>C (p.Asn839His) n.2565A>C c.2767A>C (p.Asn923His) c.2668A>C (p.Asn890His) c.3082A>C (p.Asn1028His) | gnomAD v4 |
| 16 | g.9764619G>A | CA493693093 | GRIN2A | c.2925C>T (p.Leu975=) c.2454C>T (p.Leu818=) n.2518C>T c.*295C>T (n.*295C>T) c.2514C>T (p.Leu838=) n.2564C>T c.2766C>T (p.Leu922=) c.2667C>T (p.Leu889=) c.3081C>T (p.Leu1027=) | dbSNP |
| 16 | g.9764619G>C | CA493693092 | GRIN2A | c.2925C>G (p.Leu975=) c.2454C>G (p.Leu818=) n.2518C>G c.*295C>G (n.*295C>G) c.2514C>G (p.Leu838=) n.2564C>G c.2766C>G (p.Leu922=) c.2667C>G (p.Leu889=) c.3081C>G (p.Leu1027=) | dbSNP |
| 16 | g.9764619G= | CA2206693329 | GRIN2A | c.2925C= (p.Leu975=) c.2454C= (p.Leu818=) n.2518C= c.*295C= (n.*295C=) c.2514C= (p.Leu838=) n.2564C= c.2766C= (p.Leu922=) c.2667C= (p.Leu889=) c.3081C= (p.Leu1027=) | |
| 16 | g.9764619G>T | CA493693090 | GRIN2A | c.2925C>A (p.Leu975=) c.2454C>A (p.Leu818=) n.2518C>A c.*295C>A (n.*295C>A) c.2514C>A (p.Leu838=) n.2564C>A c.2766C>A (p.Leu922=) c.2667C>A (p.Leu889=) c.3081C>A (p.Leu1027=) | dbSNP |
| 16 | g.9764620A>C | CA394709050 | GRIN2A | c.2924T>G (p.Leu975Arg) c.2453T>G (p.Leu818Arg) n.2517T>G c.*294T>G (n.*294T>G) c.2513T>G (p.Leu838Arg) n.2563T>G c.2765T>G (p.Leu922Arg) c.2666T>G (p.Leu889Arg) c.3080T>G (p.Leu1027Arg) | |
| 16 | g.9764620A>G | CA394709051 | GRIN2A | c.2924T>C (p.Leu975Pro) c.2453T>C (p.Leu818Pro) n.2517T>C c.*294T>C (n.*294T>C) c.2513T>C (p.Leu838Pro) n.2563T>C c.2765T>C (p.Leu922Pro) c.2666T>C (p.Leu889Pro) c.3080T>C (p.Leu1027Pro) | dbSNP |
| 16 | g.9764620A>T | CA394709052 | GRIN2A | c.2924T>A (p.Leu975His) c.2453T>A (p.Leu818His) n.2517T>A c.*294T>A (n.*294T>A) c.2513T>A (p.Leu838His) n.2563T>A c.2765T>A (p.Leu922His) c.2666T>A (p.Leu889His) c.3080T>A (p.Leu1027His) | dbSNP |