Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.13563117_13563182del | CA2573053634 | GRIN2B | c.4062_4127del (p.Ser1355_Ser1376del) c.69+45427_69+45492del (n.69+45427_69+45492del) n.2322_2387del c.1848_1913del (p.Ser617_Ser638del) | ClinVar dbSNP |
12 | g.13563125G>A | CA6460781 | GRIN2B | c.4113C>T (p.Tyr1371=) c.69+45478C>T (n.69+45478C>T) n.2373C>T c.1899C>T (p.Tyr633=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.13563125G>C | CA383986535 | GRIN2B | c.4113C>G (p.Tyr1371Ter) c.69+45478C>G (n.69+45478C>G) n.2373C>G c.1899C>G (p.Tyr633Ter) | |
12 | g.13563125G= | CA2017414811 | GRIN2B | c.4113C= (p.Tyr1371=) c.69+45478C= (n.69+45478C=) n.2373C= c.1899C= (p.Tyr633=) | |
12 | g.13563125G>T | CA383986536 | GRIN2B | c.4113C>A (p.Tyr1371Ter) c.69+45478C>A (n.69+45478C>A) n.2373C>A c.1899C>A (p.Tyr633Ter) | |
12 | g.13563126T>A | CA383986541 | GRIN2B | c.4112A>T (p.Tyr1371Phe) c.69+45477A>T (n.69+45477A>T) n.2372A>T c.1898A>T (p.Tyr633Phe) | dbSNP gnomAD v2 |
12 | g.13563126T>C | CA6460782 | GRIN2B | c.4112A>G (p.Tyr1371Cys) c.69+45477A>G (n.69+45477A>G) n.2372A>G c.1898A>G (p.Tyr633Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.13563126T>G | CA383986539 | GRIN2B | c.4112A>C (p.Tyr1371Ser) c.69+45477A>C (n.69+45477A>C) n.2372A>C c.1898A>C (p.Tyr633Ser) | |
12 | g.13563126T= | CA2017414816 | GRIN2B | c.4112A= (p.Tyr1371=) c.69+45477A= (n.69+45477A=) n.2372A= c.1898A= (p.Tyr633=) | |
12 | g.13563127A>C | CA383986544 | GRIN2B | c.4111T>G (p.Tyr1371Asp) c.69+45476T>G (n.69+45476T>G) n.2371T>G c.1897T>G (p.Tyr633Asp) | |
12 | g.13563127A>G | CA383986545 | GRIN2B | c.4111T>C (p.Tyr1371His) c.69+45476T>C (n.69+45476T>C) n.2371T>C c.1897T>C (p.Tyr633His) | |
12 | g.13563127A>T | CA383986547 | GRIN2B | c.4111T>A (p.Tyr1371Asn) c.69+45476T>A (n.69+45476T>A) n.2371T>A c.1897T>A (p.Tyr633Asn) | |
12 | g.13563127_13563128insTCC | CA2502717865 | GRIN2B | c.4110_4111insGGA (p.Gly1370_Tyr1371insGly) c.69+45475_69+45476insGGA (n.69+45475_69+45476insGGA) n.2370_2371insGGA c.1896_1897insGGA (p.Gly632_Tyr633insGly) | |
12 | g.13563128C>A | CA478847966 | GRIN2B | c.4110G>T (p.Gly1370=) c.69+45475G>T (n.69+45475G>T) n.2370G>T c.1896G>T (p.Gly632=) | |
12 | g.13563128C= | CA2017414822 | GRIN2B | c.4110G= (p.Gly1370=) c.69+45475G= (n.69+45475G=) n.2370G= c.1896G= (p.Gly632=) | |
12 | g.13563128C>G | CA478847968 | GRIN2B | c.4110G>C (p.Gly1370=) c.69+45475G>C (n.69+45475G>C) n.2370G>C c.1896G>C (p.Gly632=) | dbSNP gnomAD v4 |
12 | g.13563128C>T | CA478847969 | GRIN2B | c.4110G>A (p.Gly1370=) c.69+45475G>A (n.69+45475G>A) n.2370G>A c.1896G>A (p.Gly632=) | dbSNP gnomAD v4 |
12 | g.13563129C>A | CA383986549 | GRIN2B | c.4109G>T (p.Gly1370Val) c.69+45474G>T (n.69+45474G>T) n.2369G>T c.1895G>T (p.Gly632Val) | |
12 | g.13563129C= | CA2017414826 | GRIN2B | c.4109G= (p.Gly1370=) c.69+45474G= (n.69+45474G=) n.2369G= c.1895G= (p.Gly632=) | |
12 | g.13563129C>G | CA383986551 | GRIN2B | c.4109G>C (p.Gly1370Ala) c.69+45474G>C (n.69+45474G>C) n.2369G>C c.1895G>C (p.Gly632Ala) | |
12 | g.13563129C>T | CA233132860 | GRIN2B | c.4109G>A (p.Gly1370Glu) c.69+45474G>A (n.69+45474G>A) n.2369G>A c.1895G>A (p.Gly632Glu) | dbSNP |
12 | g.13563130C>A | CA383986554 | GRIN2B | c.4108G>T (p.Gly1370Trp) c.69+45473G>T (n.69+45473G>T) n.2368G>T c.1894G>T (p.Gly632Trp) | |
12 | g.13563130C= | CA2017414831 | GRIN2B | c.4108G= (p.Gly1370=) c.69+45473G= (n.69+45473G=) n.2368G= c.1894G= (p.Gly632=) | |
12 | g.13563130C>G | CA383986556 | GRIN2B | c.4108G>C (p.Gly1370Arg) c.69+45473G>C (n.69+45473G>C) n.2368G>C c.1894G>C (p.Gly632Arg) | |
12 | g.13563130C>T | CA6460783 | GRIN2B | c.4108G>A (p.Gly1370Arg) c.69+45473G>A (n.69+45473G>A) n.2368G>A c.1894G>A (p.Gly632Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.13563131G>A | CA6460784 | GRIN2B | c.4107C>T (p.Gly1369=) c.69+45472C>T (n.69+45472C>T) n.2367C>T c.1893C>T (p.Gly631=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.13563131G>C | CA478847971 | GRIN2B | c.4107C>G (p.Gly1369=) c.69+45472C>G (n.69+45472C>G) n.2367C>G c.1893C>G (p.Gly631=) | ClinVar |
12 | g.13563131G= | CA2017414839 | GRIN2B | c.4107C= (p.Gly1369=) c.69+45472C= (n.69+45472C=) n.2367C= c.1893C= (p.Gly631=) | |
12 | g.13563131G>T | CA478847972 | GRIN2B | c.4107C>A (p.Gly1369=) c.69+45472C>A (n.69+45472C>A) n.2367C>A c.1893C>A (p.Gly631=) | gnomAD v4 COSMIC |
12 | g.13563132C>A | CA383986559 | GRIN2B | c.4106G>T (p.Gly1369Val) c.69+45471G>T (n.69+45471G>T) n.2366G>T c.1892G>T (p.Gly631Val) | |
12 | g.13563132C>G | CA383986561 | GRIN2B | c.4106G>C (p.Gly1369Ala) c.69+45471G>C (n.69+45471G>C) n.2366G>C c.1892G>C (p.Gly631Ala) | |
12 | g.13563132C>T | CA383986563 | GRIN2B | c.4106G>A (p.Gly1369Asp) c.69+45471G>A (n.69+45471G>A) n.2366G>A c.1892G>A (p.Gly631Asp) | |
12 | g.13563132_13563133insTG | CA2554394752 | GRIN2B | c.4105_4106insCA (p.Gly1369AlafsTer?) c.69+45470_69+45471insCA (n.69+45470_69+45471insCA) n.2365_2366insCA c.1891_1892insCA (p.Gly631AlafsTer?) | |
12 | g.13563133C>A | CA383986566 | GRIN2B | c.4105G>T (p.Gly1369Cys) c.69+45470G>T (n.69+45470G>T) n.2365G>T c.1891G>T (p.Gly631Cys) | gnomAD v4 |
12 | g.13563133C= | CA2017414846 | GRIN2B | c.4105G= (p.Gly1369=) c.69+45470G= (n.69+45470G=) n.2365G= c.1891G= (p.Gly631=) | |
12 | g.13563133C>G | CA383986568 | GRIN2B | c.4105G>C (p.Gly1369Arg) c.69+45470G>C (n.69+45470G>C) n.2365G>C c.1891G>C (p.Gly631Arg) | |
12 | g.13563133C>T | CA6460785 | GRIN2B | c.4105G>A (p.Gly1369Ser) c.69+45470G>A (n.69+45470G>A) n.2365G>A c.1891G>A (p.Gly631Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.13563133_13563134insT | CA2532168860 | GRIN2B | c.4104_4105insA (p.Gly1369ArgfsTer12) c.69+45469_69+45470insA (n.69+45469_69+45470insA) n.2364_2365insA c.1890_1891insA (p.Gly631ArgfsTer12) | |
12 | g.13563134G>A | CA6460786 | GRIN2B | c.4104C>T (p.Gly1368=) c.69+45469C>T (n.69+45469C>T) n.2364C>T c.1890C>T (p.Gly630=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.13563134G>C | CA478847974 | GRIN2B | c.4104C>G (p.Gly1368=) c.69+45469C>G (n.69+45469C>G) n.2364C>G c.1890C>G (p.Gly630=) | |
12 | g.13563134G= | CA2017414849 | GRIN2B | c.4104C= (p.Gly1368=) c.69+45469C= (n.69+45469C=) n.2364C= c.1890C= (p.Gly630=) | |
12 | g.13563134G>T | CA233132890 | GRIN2B | c.4104C>A (p.Gly1368=) c.69+45469C>A (n.69+45469C>A) n.2364C>A c.1890C>A (p.Gly630=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.13563135C>A | CA383986572 | GRIN2B | c.4103G>T (p.Gly1368Val) c.69+45468G>T (n.69+45468G>T) n.2363G>T c.1889G>T (p.Gly630Val) | |
12 | g.13563135C= | CA2017414854 | GRIN2B | c.4103G= (p.Gly1368=) c.69+45468G= (n.69+45468G=) n.2363G= c.1889G= (p.Gly630=) | |
12 | g.13563135C>G | CA383986573 | GRIN2B | c.4103G>C (p.Gly1368Ala) c.69+45468G>C (n.69+45468G>C) n.2363G>C c.1889G>C (p.Gly630Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.13563135C>T | CA383986574 | GRIN2B | c.4103G>A (p.Gly1368Asp) c.69+45468G>A (n.69+45468G>A) n.2363G>A c.1889G>A (p.Gly630Asp) | |
12 | g.13563136C>A | CA383986577 | GRIN2B | c.4102G>T (p.Gly1368Cys) c.69+45467G>T (n.69+45467G>T) n.2362G>T c.1888G>T (p.Gly630Cys) | ClinVar gnomAD v4 |
12 | g.13563136C= | CA2017414860 | GRIN2B | c.4102G= (p.Gly1368=) c.69+45467G= (n.69+45467G=) n.2362G= c.1888G= (p.Gly630=) | |
12 | g.13563136C>G | CA383986580 | GRIN2B | c.4102G>C (p.Gly1368Arg) c.69+45467G>C (n.69+45467G>C) n.2362G>C c.1888G>C (p.Gly630Arg) | |
12 | g.13563136C>T | CA233132894 | GRIN2B | c.4102G>A (p.Gly1368Ser) c.69+45467G>A (n.69+45467G>A) n.2362G>A c.1888G>A (p.Gly630Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |