| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.98541966G>A | CA466526996 | GABBR2 | c.537C>T (p.Asp179=) n.315C>T c.153C>T (p.Asp51=) n.324C>T n.311C>T c.243C>T (p.Asp81=) | |
| 9 | g.98541966G>C | CA374351042 | GABBR2 | c.537C>G (p.Asp179Glu) n.315C>G c.153C>G (p.Asp51Glu) n.324C>G n.311C>G c.243C>G (p.Asp81Glu) | |
| 9 | g.98541966G>T | CA374351043 | GABBR2 | c.537C>A (p.Asp179Glu) n.315C>A c.153C>A (p.Asp51Glu) n.324C>A n.311C>A c.243C>A (p.Asp81Glu) | |
| 9 | g.98541967T>A | CA374351044 | GABBR2 | c.536A>T (p.Asp179Val) n.314A>T c.152A>T (p.Asp51Val) n.323A>T n.310A>T c.242A>T (p.Asp81Val) | |
| 9 | g.98541967T>C | CA374351045 | GABBR2 | c.536A>G (p.Asp179Gly) n.314A>G c.152A>G (p.Asp51Gly) n.323A>G n.310A>G c.242A>G (p.Asp81Gly) | |
| 9 | g.98541967T>G | CA374351046 | GABBR2 | c.536A>C (p.Asp179Ala) n.314A>C c.152A>C (p.Asp51Ala) n.323A>C n.310A>C c.242A>C (p.Asp81Ala) | |
| 9 | g.98541968C>A | CA374351047 | GABBR2 | c.535G>T (p.Asp179Tyr) n.313G>T c.151G>T (p.Asp51Tyr) n.322G>T n.309G>T c.241G>T (p.Asp81Tyr) | |
| 9 | g.98541968C>G | CA374351048 | GABBR2 | c.535G>C (p.Asp179His) n.313G>C c.151G>C (p.Asp51His) n.322G>C n.309G>C c.241G>C (p.Asp81His) | |
| 9 | g.98541968C>T | CA374351049 | GABBR2 | c.535G>A (p.Asp179Asn) n.313G>A c.151G>A (p.Asp51Asn) n.322G>A n.309G>A c.241G>A (p.Asp81Asn) | |
| 9 | g.98541969T>A | CA466526997 | GABBR2 | c.534A>T (p.Ser178=) n.312A>T c.150A>T (p.Ser50=) n.321A>T n.308A>T c.240A>T (p.Ser80=) | |
| 9 | g.98541969T>C | CA197076909 | GABBR2 | c.534A>G (p.Ser178=) n.312A>G c.150A>G (p.Ser50=) n.321A>G n.308A>G c.240A>G (p.Ser80=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.98541969T>G | CA5152953 | GABBR2 | c.534A>C (p.Ser178=) n.312A>C c.150A>C (p.Ser50=) n.321A>C n.308A>C c.240A>C (p.Ser80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98541969T= | CA1866994158 | GABBR2 | c.534A= (p.Ser178=) n.312A= c.150A= (p.Ser50=) n.321A= n.308A= c.240A= (p.Ser80=) | |
| 9 | g.98541970G>A | CA374351050 | GABBR2 | c.533C>T (p.Ser178Leu) n.311C>T c.149C>T (p.Ser50Leu) n.320C>T n.307C>T c.239C>T (p.Ser80Leu) | |
| 9 | g.98541970G>C | CA374351051 | GABBR2 | c.533C>G (p.Ser178Ter) n.311C>G c.149C>G (p.Ser50Ter) n.320C>G n.307C>G c.239C>G (p.Ser80Ter) | |
| 9 | g.98541970G>T | CA374351052 | GABBR2 | c.533C>A (p.Ser178Ter) n.311C>A c.149C>A (p.Ser50Ter) n.320C>A n.307C>A c.239C>A (p.Ser80Ter) | |
| 9 | g.98541971A>C | CA374351053 | GABBR2 | c.532T>G (p.Ser178Ala) n.310T>G c.148T>G (p.Ser50Ala) n.319T>G n.306T>G c.238T>G (p.Ser80Ala) | |
| 9 | g.98541971A>G | CA374351055 | GABBR2 | c.532T>C (p.Ser178Pro) n.310T>C c.148T>C (p.Ser50Pro) n.319T>C n.306T>C c.238T>C (p.Ser80Pro) | |
| 9 | g.98541971A>T | CA374351054 | GABBR2 | c.532T>A (p.Ser178Thr) n.310T>A c.148T>A (p.Ser50Thr) n.319T>A n.306T>A c.238T>A (p.Ser80Thr) | |
| 9 | g.98541972T>A | CA466526998 | GABBR2 | c.531A>T (p.Pro177=) n.309A>T c.147A>T (p.Pro49=) n.318A>T n.305A>T c.237A>T (p.Pro79=) | |
| 9 | g.98541972T>C | CA466526999 | GABBR2 | c.531A>G (p.Pro177=) n.309A>G c.147A>G (p.Pro49=) n.318A>G n.305A>G c.237A>G (p.Pro79=) | gnomAD v4 |
| 9 | g.98541972T>G | CA466527000 | GABBR2 | c.531A>C (p.Pro177=) n.309A>C c.147A>C (p.Pro49=) n.318A>C n.305A>C c.237A>C (p.Pro79=) | |
| 9 | g.98541973G>A | CA374351056 | GABBR2 | c.530C>T (p.Pro177Leu) n.308C>T c.146C>T (p.Pro49Leu) n.317C>T n.304C>T c.236C>T (p.Pro79Leu) | |
| 9 | g.98541973G>C | CA374351057 | GABBR2 | c.530C>G (p.Pro177Arg) n.308C>G c.146C>G (p.Pro49Arg) n.317C>G n.304C>G c.236C>G (p.Pro79Arg) | |
| 9 | g.98541973G>T | CA374351058 | GABBR2 | c.530C>A (p.Pro177Gln) n.308C>A c.146C>A (p.Pro49Gln) n.317C>A n.304C>A c.236C>A (p.Pro79Gln) | |
| 9 | g.98541974G>A | CA374351059 | GABBR2 | c.529C>T (p.Pro177Ser) n.307C>T c.145C>T (p.Pro49Ser) n.316C>T n.303C>T c.235C>T (p.Pro79Ser) | |
| 9 | g.98541974G>C | CA374351060 | GABBR2 | c.529C>G (p.Pro177Ala) n.307C>G c.145C>G (p.Pro49Ala) n.316C>G n.303C>G c.235C>G (p.Pro79Ala) | |
| 9 | g.98541974G>T | CA374351061 | GABBR2 | c.529C>A (p.Pro177Thr) n.307C>A c.145C>A (p.Pro49Thr) n.316C>A n.303C>A c.235C>A (p.Pro79Thr) | |
| 9 | g.98541975G>A | CA466527004 | GABBR2 | c.528C>T (p.Val176=) n.306C>T c.144C>T (p.Val48=) n.315C>T n.302C>T c.234C>T (p.Val78=) | |
| 9 | g.98541975G>C | CA5152954 | GABBR2 | c.528C>G (p.Val176=) n.306C>G c.144C>G (p.Val48=) n.315C>G n.302C>G c.234C>G (p.Val78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98541975G= | CA1866994161 | GABBR2 | c.528C= (p.Val176=) n.306C= c.144C= (p.Val48=) n.315C= n.302C= c.234C= (p.Val78=) | |
| 9 | g.98541975G>T | CA466527005 | GABBR2 | c.528C>A (p.Val176=) n.306C>A c.144C>A (p.Val48=) n.315C>A n.302C>A c.234C>A (p.Val78=) | |
| 9 | g.98541976A>C | CA374351062 | GABBR2 | c.527T>G (p.Val176Gly) n.305T>G c.143T>G (p.Val48Gly) n.314T>G n.301T>G c.233T>G (p.Val78Gly) | |
| 9 | g.98541976A>G | CA374351063 | GABBR2 | c.527T>C (p.Val176Ala) n.305T>C c.143T>C (p.Val48Ala) n.314T>C n.301T>C c.233T>C (p.Val78Ala) | |
| 9 | g.98541976A>T | CA374351064 | GABBR2 | c.527T>A (p.Val176Asp) n.305T>A c.143T>A (p.Val48Asp) n.314T>A n.301T>A c.233T>A (p.Val78Asp) | |
| 9 | g.98541977C>A | CA374351067 | GABBR2 | c.526G>T (p.Val176Phe) n.304G>T c.142G>T (p.Val48Phe) n.313G>T n.300G>T c.232G>T (p.Val78Phe) | |
| 9 | g.98541977C= | CA1866994164 | GABBR2 | c.526G= (p.Val176=) n.304G= c.142G= (p.Val48=) n.313G= n.300G= c.232G= (p.Val78=) | |
| 9 | g.98541977C>G | CA374351066 | GABBR2 | c.526G>C (p.Val176Leu) n.304G>C c.142G>C (p.Val48Leu) n.313G>C n.300G>C c.232G>C (p.Val78Leu) | |
| 9 | g.98541977C>T | CA374351065 | GABBR2 | c.526G>A (p.Val176Ile) n.304G>A c.142G>A (p.Val48Ile) n.313G>A n.300G>A c.232G>A (p.Val78Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.98541978G>A | CA466527007 | GABBR2 | c.525C>T (p.Thr175=) n.303C>T c.141C>T (p.Thr47=) n.312C>T n.299C>T c.231C>T (p.Thr77=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98541978G>C | CA466527008 | GABBR2 | c.525C>G (p.Thr175=) n.303C>G c.141C>G (p.Thr47=) n.312C>G n.299C>G c.231C>G (p.Thr77=) | |
| 9 | g.98541978G= | CA1866994167 | GABBR2 | c.525C= (p.Thr175=) n.303C= c.141C= (p.Thr47=) n.312C= n.299C= c.231C= (p.Thr77=) | |
| 9 | g.98541978G>T | CA466527009 | GABBR2 | c.525C>A (p.Thr175=) n.303C>A c.141C>A (p.Thr47=) n.312C>A n.299C>A c.231C>A (p.Thr77=) | |
| 9 | g.98541979G>A | CA374351070 | GABBR2 | c.524C>T (p.Thr175Ile) n.302C>T c.140C>T (p.Thr47Ile) n.311C>T n.298C>T c.230C>T (p.Thr77Ile) | |
| 9 | g.98541979G>C | CA374351068 | GABBR2 | c.524C>G (p.Thr175Ser) n.302C>G c.140C>G (p.Thr47Ser) n.311C>G n.298C>G c.230C>G (p.Thr77Ser) | |
| 9 | g.98541979G>T | CA374351069 | GABBR2 | c.524C>A (p.Thr175Asn) n.302C>A c.140C>A (p.Thr47Asn) n.311C>A n.298C>A c.230C>A (p.Thr77Asn) | |
| 9 | g.98541980T>A | CA374351071 | GABBR2 | c.523A>T (p.Thr175Ser) n.301A>T c.139A>T (p.Thr47Ser) n.310A>T n.297A>T c.229A>T (p.Thr77Ser) | |
| 9 | g.98541980T>C | CA374351072 | GABBR2 | c.523A>G (p.Thr175Ala) n.301A>G c.139A>G (p.Thr47Ala) n.310A>G n.297A>G c.229A>G (p.Thr77Ala) | |
| 9 | g.98541980T>G | CA374351073 | GABBR2 | c.523A>C (p.Thr175Pro) n.301A>C c.139A>C (p.Thr47Pro) n.310A>C n.297A>C c.229A>C (p.Thr77Pro) | dbSNP |
| 9 | g.98541980T= | CA1866994170 | GABBR2 | c.523A= (p.Thr175=) n.301A= c.139A= (p.Thr47=) n.310A= n.297A= c.229A= (p.Thr77=) |