Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.28767922T>A | CA389475554 | FOXG1 | c.643T>A (p.Phe215Ile) | ClinVar |
14 | g.28767922T>C | CA123554 | FOXG1 | c.643T>C (p.Phe215Leu) | ClinVar dbSNP |
14 | g.28767922T>G | CA389475553 | FOXG1 | c.643T>G (p.Phe215Val) | |
14 | g.28767922T= | CA2125999890 | FOXG1 | c.643T= (p.Phe215=) | |
14 | g.28767923T>A | CA389475555 | FOXG1 | c.644T>A (p.Phe215Tyr) | |
14 | g.28767923T>C | CA389475556 | FOXG1 | c.644T>C (p.Phe215Ser) | |
14 | g.28767923T>G | CA389475557 | FOXG1 | c.644T>G (p.Phe215Cys) | |
14 | g.28767923_28767924delinsCT | CA207940 | FOXG1 | c.644_645delinsCT (p.Phe215Ser) | ClinVar dbSNP |
14 | g.28767923_28767924delinsTC | CA2125999895 | FOXG1 | c.644_645delinsTC (p.Phe215=) | |
14 | g.28767924C>A | CA389475558 | FOXG1 | c.645C>A (p.Phe215Leu) | ClinVar dbSNP |
14 | g.28767924C= | CA2125999900 | FOXG1 | c.645C= (p.Phe215=) | |
14 | g.28767924C>G | CA16042954 | FOXG1 | c.645C>G (p.Phe215Leu) | ClinVar dbSNP |
14 | g.28767924C>T | CA486098527 | FOXG1 | c.645C>T (p.Phe215=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.28767926del | CA2695219194 | FOXG1 | c.647del (p.Pro216LeufsTer25) | |
14 | g.28767924_28767932delinsCCCTTACTA | CA2125999899 | FOXG1 | c.645_653delinsCCCTTACTA (p.Phe215=) | |
14 | g.28767925C>A | CA389475560 | FOXG1 | c.646C>A (p.Pro216Thr) | |
14 | g.28767925C= | CA2125999907 | FOXG1 | c.646C= (p.Pro216=) | |
14 | g.28767925C>G | CA389475559 | FOXG1 | c.646C>G (p.Pro216Ala) | |
14 | g.28767925C>T | CA7140623 | FOXG1 | c.646C>T (p.Pro216Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.28767927_28767934del | CA234033 | FOXG1 | c.648_655del (p.Tyr217ArgfsTer?) | ClinVar dbSNP |
14 | g.28767926C>A | CA389475561 | FOXG1 | c.647C>A (p.Pro216His) | |
14 | g.28767926C>G | CA389475562 | FOXG1 | c.647C>G (p.Pro216Arg) | |
14 | g.28767926C>T | CA389475563 | FOXG1 | c.647C>T (p.Pro216Leu) | |
14 | g.28767927T>A | CA486098538 | FOXG1 | c.648T>A (p.Pro216=) | ClinVar dbSNP gnomAD v4 |
14 | g.28767927T>C | CA486098539 | FOXG1 | c.648T>C (p.Pro216=) | dbSNP |
14 | g.28767927T>G | CA486098543 | FOXG1 | c.648T>G (p.Pro216=) | |
14 | g.28767927_28767928insAT | CA2579988444 | FOXG1 | c.648_649insAT (p.Tyr217IlefsTer25) | |
14 | g.28767928T>A | CA389475566 | FOXG1 | c.649T>A (p.Tyr217Asn) | |
14 | g.28767928T>C | CA389475564 | FOXG1 | c.649T>C (p.Tyr217His) | |
14 | g.28767928T>G | CA389475565 | FOXG1 | c.649T>G (p.Tyr217Asp) | |
14 | g.28767929A>C | CA389475567 | FOXG1 | c.650A>C (p.Tyr217Ser) | |
14 | g.28767929A>G | CA389475568 | FOXG1 | c.650A>G (p.Tyr217Cys) | |
14 | g.28767929A>T | CA389475569 | FOXG1 | c.650A>T (p.Tyr217Phe) | |
14 | g.28767930C>A | CA389475570 | FOXG1 | c.651C>A (p.Tyr217Ter) | |
14 | g.28767930C= | CA2125999910 | FOXG1 | c.651C= (p.Tyr217=) | |
14 | g.28767930C>G | CA314612 | FOXG1 | c.651C>G (p.Tyr217Ter) | ClinVar dbSNP |
14 | g.28767930C>T | CA486098546 | FOXG1 | c.651C>T (p.Tyr217=) | ClinVar dbSNP |
14 | g.28767931T>A | CA389475573 | FOXG1 | c.652T>A (p.Tyr218Asn) | |
14 | g.28767931T>C | CA389475571 | FOXG1 | c.652T>C (p.Tyr218His) | |
14 | g.28767931T>G | CA389475572 | FOXG1 | c.652T>G (p.Tyr218Asp) | |
14 | g.28767932A= | CA2125999917 | FOXG1 | c.653A= (p.Tyr218=) | |
14 | g.28767932A>C | CA389475574 | FOXG1 | c.653A>C (p.Tyr218Ser) | |
14 | g.28767932A>G | CA389475575 | FOXG1 | c.653A>G (p.Tyr218Cys) | ClinVar dbSNP |
14 | g.28767932A>T | CA389475576 | FOXG1 | c.653A>T (p.Tyr218Phe) | |
14 | g.28767933C>A | CA389475577 | FOXG1 | c.654C>A (p.Tyr218Ter) | ClinVar dbSNP |
14 | g.28767933C>G | CA389475578 | FOXG1 | c.654C>G (p.Tyr218Ter) | |
14 | g.28767933C>T | CA486098559 | FOXG1 | c.654C>T (p.Tyr218=) | |
14 | g.28767934C>A | CA389475579 | FOXG1 | c.655C>A (p.Arg219Ser) | |
14 | g.28767934C= | CA2125999921 | FOXG1 | c.655C= (p.Arg219=) | |
14 | g.28767934C>G | CA389475580 | FOXG1 | c.655C>G (p.Arg219Gly) | ClinVar dbSNP |