Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.28767690G>A | CA7140597 | FOXG1 | c.411G>A (p.Leu137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.28767690G>C | CA7140596 | FOXG1 | c.411G>C (p.Leu137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.28767690G= | CA2125999354 | FOXG1 | c.411G= (p.Leu137=) | |
14 | g.28767690G>T | CA486098160 | FOXG1 | c.411G>T (p.Leu137=) | |
14 | g.28767691G>A | CA389475041 | FOXG1 | c.412G>A (p.Ala138Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.28767691G>C | CA389475040 | FOXG1 | c.412G>C (p.Ala138Pro) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.28767691G= | CA2125999358 | FOXG1 | c.412G= (p.Ala138=) | |
14 | g.28767691G>T | CA389475039 | FOXG1 | c.412G>T (p.Ala138Ser) | |
14 | g.28767692del | CA2697553884 | FOXG1 | c.413del (p.Ala138GlyfsTer?) | |
14 | g.28767692C>A | CA389475042 | FOXG1 | c.413C>A (p.Ala138Glu) | |
14 | g.28767692C>G | CA389475043 | FOXG1 | c.413C>G (p.Ala138Gly) | COSMIC |
14 | g.28767692C>T | CA389475044 | FOXG1 | c.413C>T (p.Ala138Val) | gnomAD v4 |
14 | g.28767693G>A | CA486098162 | FOXG1 | c.414G>A (p.Ala138=) | |
14 | g.28767693G>C | CA486098163 | FOXG1 | c.414G>C (p.Ala138=) | gnomAD v4 |
14 | g.28767693G= | CA2125999361 | FOXG1 | c.414G= (p.Ala138=) | |
14 | g.28767693G>T | CA258396567 | FOXG1 | c.414G>T (p.Ala138=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.28767694C>A | CA389475045 | FOXG1 | c.415C>A (p.Pro139Thr) | |
14 | g.28767694C= | CA2125999363 | FOXG1 | c.415C= (p.Pro139=) | |
14 | g.28767694C>G | CA389475046 | FOXG1 | c.415C>G (p.Pro139Ala) | |
14 | g.28767694C>T | CA389475047 | FOXG1 | c.415C>T (p.Pro139Ser) | dbSNP gnomAD v2 gnomAD v4 |
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) |