| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13866192_13866194dup | CA1139768701 | GRIN2B | c.16_18dup (p.Glu6_Cys7insGlu) | |
| 12 | g.13866194C>A | CA478853990 | GRIN2B | c.15G>T (p.Ala5=) | ClinVar dbSNP |
| 12 | g.13866194C= | CA2017578314 | GRIN2B | c.15G= (p.Ala5=) | |
| 12 | g.13866194C>G | CA478853991 | GRIN2B | c.15G>C (p.Ala5=) | gnomAD v4 |
| 12 | g.13866194C>T | CA225835 | GRIN2B | c.15G>A (p.Ala5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13866195G>A | CA225837 | GRIN2B | c.14C>T (p.Ala5Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.13866195G>C | CA384055173 | GRIN2B | c.14C>G (p.Ala5Gly) | |
| 12 | g.13866195G= | CA2017578315 | GRIN2B | c.14C= (p.Ala5=) | |
| 12 | g.13866195G>T | CA384055174 | GRIN2B | c.14C>A (p.Ala5Glu) | gnomAD v4 |
| 12 | g.13866196C>A | CA384055175 | GRIN2B | c.13G>T (p.Ala5Ser) | |
| 12 | g.13866196C= | CA2017578316 | GRIN2B | c.13G= (p.Ala5=) | |
| 12 | g.13866196C>G | CA384055176 | GRIN2B | c.13G>C (p.Ala5Pro) | |
| 12 | g.13866196C>T | CA384055177 | GRIN2B | c.13G>A (p.Ala5Thr) | dbSNP gnomAD v2 |
| 12 | g.13866197T>A | CA384055178 | GRIN2B | c.12A>T (p.Arg4Ser) | |
| 12 | g.13866197T>C | CA478853992 | GRIN2B | c.12A>G (p.Arg4=) | |
| 12 | g.13866197T>G | CA384055179 | GRIN2B | c.12A>C (p.Arg4Ser) | |
| 12 | g.13866198C>A | CA384055180 | GRIN2B | c.11G>T (p.Arg4Ile) | |
| 12 | g.13866198C>G | CA384055181 | GRIN2B | c.11G>C (p.Arg4Thr) | |
| 12 | g.13866198C>T | CA384055182 | GRIN2B | c.11G>A (p.Arg4Lys) | |
| 12 | g.13866199T>A | CA384055183 | GRIN2B | c.10A>T (p.Arg4Ter) | dbSNP |
| 12 | g.13866199T>C | CA6461479 | GRIN2B | c.10A>G (p.Arg4Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.13866199T>G | CA478853993 | GRIN2B | c.10A>C (p.Arg4=) | |
| 12 | g.13866199T= | CA2017578317 | GRIN2B | c.10A= (p.Arg4=) | |
| 12 | g.13866200G>A | CA6461480 | GRIN2B | c.9C>T (p.Pro3=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13866200G>C | CA478853995 | GRIN2B | c.9C>G (p.Pro3=) | |
| 12 | g.13866200G= | CA2017578318 | GRIN2B | c.9C= (p.Pro3=) | |
| 12 | g.13866200G>T | CA478853994 | GRIN2B | c.9C>A (p.Pro3=) | gnomAD v4 |
| 12 | g.13866201G>A | CA384055184 | GRIN2B | c.8C>T (p.Pro3Leu) | |
| 12 | g.13866201G>C | CA384055185 | GRIN2B | c.8C>G (p.Pro3Arg) | |
| 12 | g.13866201G>T | CA384055186 | GRIN2B | c.8C>A (p.Pro3His) | gnomAD v4 |
| 12 | g.13866202G>A | CA233148024 | GRIN2B | c.7C>T (p.Pro3Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.13866202G>C | CA384055187 | GRIN2B | c.7C>G (p.Pro3Ala) | |
| 12 | g.13866202G= | CA2017578319 | GRIN2B | c.7C= (p.Pro3=) | |
| 12 | g.13866202G>T | CA384055188 | GRIN2B | c.7C>A (p.Pro3Thr) | gnomAD v4 |
| 12 | g.13866203C>A | CA384055190 | GRIN2B | c.6G>T (p.Lys2Asn) | gnomAD v4 |
| 12 | g.13866203C= | CA2017578320 | GRIN2B | c.6G= (p.Lys2=) | |
| 12 | g.13866203C>G | CA384055189 | GRIN2B | c.6G>C (p.Lys2Asn) | |
| 12 | g.13866203C>T | CA478853999 | GRIN2B | c.6G>A (p.Lys2=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13866204T>A | CA384055191 | GRIN2B | c.5A>T (p.Lys2Met) | |
| 12 | g.13866204T>C | CA384055192 | GRIN2B | c.5A>G (p.Lys2Arg) | |
| 12 | g.13866204T>G | CA384055193 | GRIN2B | c.5A>C (p.Lys2Thr) | ClinVar dbSNP |
| 12 | g.13866205T>A | CA384055194 | GRIN2B | c.4A>T (p.Lys2Ter) | dbSNP |
| 12 | g.13866205T>C | CA384055195 | GRIN2B | c.4A>G (p.Lys2Glu) | |
| 12 | g.13866205T>G | CA384055196 | GRIN2B | c.4A>C (p.Lys2Gln) | |
| 12 | g.13866205T= | CA2017578321 | GRIN2B | c.4A= (p.Lys2=) | |
| 12 | g.13866206C>A | CA384055197 | GRIN2B | c.3G>T (p.Met1Ile) | |
| 12 | g.13866206C>G | CA384055198 | GRIN2B | c.3G>C (p.Met1Ile) | |
| 12 | g.13866206C>T | CA384055199 | GRIN2B | c.3G>A (p.Met1Ile) | |
| 12 | g.13866207A>C | CA384055200 | GRIN2B | c.2T>G (p.Met1Arg) | |
| 12 | g.13866207A>G | CA384055201 | GRIN2B | c.2T>C (p.Met1Thr) | COSMIC |