Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.13866094C>A | CA384054957 | GRIN2B | c.115G>T (p.Val39Phe) | |
12 | g.13866094C>G | CA384054959 | GRIN2B | c.115G>C (p.Val39Leu) | |
12 | g.13866094C>T | CA384054960 | GRIN2B | c.115G>A (p.Val39Ile) | |
12 | g.13866095A= | CA2017578261 | GRIN2B | c.114T= (p.Ala38=) | |
12 | g.13866095A>C | CA478853930 | GRIN2B | c.114T>G (p.Ala38=) | |
12 | g.13866095A>G | CA478853931 | GRIN2B | c.114T>C (p.Ala38=) | |
12 | g.13866095A>T | CA478853932 | GRIN2B | c.114T>A (p.Ala38=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.13866096G>A | CA384054967 | GRIN2B | c.113C>T (p.Ala38Val) | |
12 | g.13866096G>C | CA384054969 | GRIN2B | c.113C>G (p.Ala38Gly) | COSMIC |
12 | g.13866096G>T | CA384054971 | GRIN2B | c.113C>A (p.Ala38Asp) | |
12 | g.13866097C>A | CA384054973 | GRIN2B | c.112G>T (p.Ala38Ser) | |
12 | g.13866097C>G | CA384054975 | GRIN2B | c.112G>C (p.Ala38Pro) | |
12 | g.13866097C>T | CA384054974 | GRIN2B | c.112G>A (p.Ala38Thr) | |
12 | g.13866098A>C | CA384054976 | GRIN2B | c.111T>G (p.Ile37Met) | |
12 | g.13866098A>G | CA478853933 | GRIN2B | c.111T>C (p.Ile37=) | |
12 | g.13866098A>T | CA478853934 | GRIN2B | c.111T>A (p.Ile37=) | |
12 | g.13866099A>C | CA384054977 | GRIN2B | c.110T>G (p.Ile37Ser) | |
12 | g.13866099A>G | CA384054978 | GRIN2B | c.110T>C (p.Ile37Thr) | |
12 | g.13866099A>T | CA384054979 | GRIN2B | c.110T>A (p.Ile37Asn) | |
12 | g.13866100T>A | CA384054980 | GRIN2B | c.109A>T (p.Ile37Phe) | |
12 | g.13866100T>C | CA233148015 | GRIN2B | c.109A>G (p.Ile37Val) | dbSNP gnomAD v4 |
12 | g.13866100T>G | CA384054981 | GRIN2B | c.109A>C (p.Ile37Leu) | |
12 | g.13866100T= | CA2017578262 | GRIN2B | c.109A= (p.Ile37=) | |
12 | g.13866101G>A | CA233148016 | GRIN2B | c.108C>T (p.Gly36=) | dbSNP |
12 | g.13866101G>C | CA478853935 | GRIN2B | c.108C>G (p.Gly36=) | |
12 | g.13866101G= | CA2017578263 | GRIN2B | c.108C= (p.Gly36=) | |
12 | g.13866101G>T | CA478853936 | GRIN2B | c.108C>A (p.Gly36=) | |
12 | g.13866102C>A | CA384054982 | GRIN2B | c.107G>T (p.Gly36Val) | |
12 | g.13866102C>G | CA384054983 | GRIN2B | c.107G>C (p.Gly36Ala) | |
12 | g.13866102C>T | CA384054984 | GRIN2B | c.107G>A (p.Gly36Asp) | |
12 | g.13866103C>A | CA384054987 | GRIN2B | c.106G>T (p.Gly36Cys) c.106G>T | |
12 | g.13866103C>G | CA384054986 | GRIN2B | c.106G>C (p.Gly36Arg) c.106G>C | |
12 | g.13866103C>T | CA384054985 | GRIN2B | c.106G>A (p.Gly36Ser) c.106G>A | |
12 | g.13866104A>C | CA384054988 | GRIN2B | c.105T>G (p.Ile35Met) | |
12 | g.13866104A>G | CA478853937 | GRIN2B | c.105T>C (p.Ile35=) | gnomAD v4 |
12 | g.13866104A>T | CA478853938 | GRIN2B | c.105T>A (p.Ile35=) | |
12 | g.13866105dup | CA645595293 | GRIN2B | c.105dup (p.Gly36TrpfsTer23) c.105dup | COSMIC |
12 | g.13866105A= | CA2017578264 | GRIN2B | c.104T= (p.Ile35=) | |
12 | g.13866105A>C | CA384054990 | GRIN2B | c.104T>G (p.Ile35Ser) | |
12 | g.13866105A>G | CA233148017 | GRIN2B | c.104T>C (p.Ile35Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.13866105A>T | CA384054989 | GRIN2B | c.104T>A (p.Ile35Asn) | ClinVar |
12 | g.13866106T>A | CA384054991 | GRIN2B | c.103A>T (p.Ile35Phe) | |
12 | g.13866106T>C | CA6461458 | GRIN2B | c.103A>G (p.Ile35Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.13866106T>G | CA384054992 | GRIN2B | c.103A>C (p.Ile35Leu) | |
12 | g.13866106T= | CA2017578265 | GRIN2B | c.103A= (p.Ile35=) | |
12 | g.13866107G>A | CA478853939 | GRIN2B | c.102C>T (p.Ser34=) | |
12 | g.13866107G>C | CA384054993 | GRIN2B | c.102C>G (p.Ser34Arg) | |
12 | g.13866107G>T | CA384054994 | GRIN2B | c.102C>A (p.Ser34Arg) | |
12 | g.13866107_13866108del | CA645595294 | GRIN2B | c.101_102del (p.Ser34AsnfsTer24) c.101_102del (p.Ser34AsnfsTer?) | COSMIC |
12 | g.13866108C>A | CA6461459 | GRIN2B | c.101G>T (p.Ser34Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |