Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.28767412_28767748delinsACCCACCGCCCC | CA2766230034 | FOXG1 | c.133_469delinsACCCACCGCCCC (p.Pro45ThrfsTer?) | |
14 | g.28767662_28767772del | CA2624399051 | FOXG1 | c.383_493del (p.Gly128_Lys164del) | gnomAD v4 |
14 | g.28767677_28767729delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC | CA2125999315 | FOXG1 | c.398_450delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC (p.Gly133=) | |
14 | g.28767686_28767737del | CA891844335 | FOXG1 | c.407_458del (p.Glu136GlyfsTer?) | ClinVar dbSNP |
14 | g.28767688_28767711del | CA2580088000 | FOXG1 | c.409_432del (p.Leu137_Glu144del) | ClinVar |
14 | g.28767695C>A | CA389475050 | FOXG1 | c.416C>A (p.Pro139His) | |
14 | g.28767695C= | CA2125999365 | FOXG1 | c.416C= (p.Pro139=) | |
14 | g.28767695C>G | CA389475049 | FOXG1 | c.416C>G (p.Pro139Arg) | gnomAD v4 |
14 | g.28767695C>T | CA389475048 | FOXG1 | c.416C>T (p.Pro139Leu) | dbSNP gnomAD v4 |
14 | g.28767696C>A | CA486098164 | FOXG1 | c.417C>A (p.Pro139=) | dbSNP gnomAD v4 |
14 | g.28767696C= | CA2125999368 | FOXG1 | c.417C= (p.Pro139=) | |
14 | g.28767696C>G | CA486098165 | FOXG1 | c.417C>G (p.Pro139=) | ClinVar |
14 | g.28767696C>T | CA258396568 | FOXG1 | c.417C>T (p.Pro139=) | ClinVar dbSNP gnomAD v4 |
14 | g.28767697G>A | CA389475051 | FOXG1 | c.418G>A (p.Val140Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.28767697G>C | CA389475052 | FOXG1 | c.418G>C (p.Val140Leu) | |
14 | g.28767697G= | CA2125999371 | FOXG1 | c.418G= (p.Val140=) | |
14 | g.28767697G>T | CA389475053 | FOXG1 | c.418G>T (p.Val140Phe) | |
14 | g.28767698T>A | CA389475054 | FOXG1 | c.419T>A (p.Val140Asp) | dbSNP |
14 | g.28767698T>C | CA389475055 | FOXG1 | c.419T>C (p.Val140Ala) | |
14 | g.28767698T>G | CA389475056 | FOXG1 | c.419T>G (p.Val140Gly) | |
14 | g.28767698T= | CA2125999375 | FOXG1 | c.419T= (p.Val140=) | |
14 | g.28767699C>A | CA16607633 | FOXG1 | c.420C>A (p.Val140=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.28767699C= | CA2125999380 | FOXG1 | c.420C= (p.Val140=) | |
14 | g.28767699C>G | CA486098167 | FOXG1 | c.420C>G (p.Val140=) | |
14 | g.28767699C>T | CA16606973 | FOXG1 | c.420C>T (p.Val140=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.28767700G>A | CA389475057 | FOXG1 | c.421G>A (p.Gly141Arg) | ClinVar dbSNP gnomAD v4 |
14 | g.28767700G>C | CA389475059 | FOXG1 | c.421G>C (p.Gly141Arg) | dbSNP gnomAD v4 |
14 | g.28767700G= | CA2125999384 | FOXG1 | c.421G= (p.Gly141=) | |
14 | g.28767700G>T | CA389475058 | FOXG1 | c.421G>T (p.Gly141Trp) | gnomAD v4 |
14 | g.28767701G>A | CA389475060 | FOXG1 | c.422G>A (p.Gly141Glu) | |
14 | g.28767701G>C | CA389475061 | FOXG1 | c.422G>C (p.Gly141Ala) | |
14 | g.28767701G>T | CA389475062 | FOXG1 | c.422G>T (p.Gly141Val) | ClinVar gnomAD v4 |
14 | g.28767702G>A | CA486098169 | FOXG1 | c.423G>A (p.Gly141=) | gnomAD v4 |
14 | g.28767702G>C | CA486098171 | FOXG1 | c.423G>C (p.Gly141=) | |
14 | g.28767702G>T | CA486098170 | FOXG1 | c.423G>T (p.Gly141=) | ClinVar |
14 | g.28767703C>A | CA389475063 | FOXG1 | c.424C>A (p.Pro142Thr) | gnomAD v4 |
14 | g.28767703C>G | CA389475064 | FOXG1 | c.424C>G (p.Pro142Ala) | ClinVar |
14 | g.28767703C>T | CA389475065 | FOXG1 | c.424C>T (p.Pro142Ser) | ClinVar dbSNP gnomAD v4 |
14 | g.28767704C>A | CA389475066 | FOXG1 | c.425C>A (p.Pro142Gln) | gnomAD v4 |
14 | g.28767704C>G | CA389475067 | FOXG1 | c.425C>G (p.Pro142Arg) | gnomAD v4 |
14 | g.28767704C>T | CA389475068 | FOXG1 | c.425C>T (p.Pro142Leu) | gnomAD v4 |
14 | g.28767705G>A | CA486098172 | FOXG1 | c.426G>A (p.Pro142=) | dbSNP gnomAD v4 |
14 | g.28767705G>C | CA486098173 | FOXG1 | c.426G>C (p.Pro142=) | |
14 | g.28767705G= | CA2125999388 | FOXG1 | c.426G= (p.Pro142=) | |
14 | g.28767705G>T | CA486098175 | FOXG1 | c.426G>T (p.Pro142=) | ClinVar |
14 | g.28767706G>A | CA389475069 | FOXG1 | c.427G>A (p.Asp143Asn) | |
14 | g.28767706G>C | CA389475070 | FOXG1 | c.427G>C (p.Asp143His) | |
14 | g.28767706G>T | CA389475071 | FOXG1 | c.427G>T (p.Asp143Tyr) | |
14 | g.28767707A>C | CA389475072 | FOXG1 | c.428A>C (p.Asp143Ala) | |
14 | g.28767707A>G | CA389475074 | FOXG1 | c.428A>G (p.Asp143Gly) | gnomAD v4 |