Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60741462del | CA2687395189 | CHD7 | n.543del c.30del (p.Phe10LeufsTer25) c.30del (p.Phe10LeufsTer?) | gnomAD v4 |
8 | g.60741461_60741462del | CA915945713 | CHD7 | n.542_543del c.29_30del (p.Phe10TrpfsTer9) | ClinVar dbSNP |
8 | g.60741461T>A | CA371295122 | CHD7 | n.542T>A c.29T>A (p.Phe10Tyr) | gnomAD v4 |
8 | g.60741461T>C | CA371295123 | CHD7 | n.542T>C c.29T>C (p.Phe10Ser) | |
8 | g.60741461T>G | CA371295124 | CHD7 | n.542T>G c.29T>G (p.Phe10Cys) | |
8 | g.60741462T>A | CA371295126 | CHD7 | n.543T>A c.30T>A (p.Phe10Leu) | |
8 | g.60741462T>C | CA460837462 | CHD7 | n.543T>C c.30T>C (p.Phe10=) | |
8 | g.60741462T>G | CA371295125 | CHD7 | n.543T>G c.30T>G (p.Phe10Leu) | |
8 | g.60741463G>A | CA371295127 | CHD7 | n.544G>A c.31G>A (p.Gly11Ser) | |
8 | g.60741463G>C | CA371295129 | CHD7 | n.544G>C c.31G>C (p.Gly11Arg) | |
8 | g.60741463G>T | CA371295130 | CHD7 | n.544G>T c.31G>T (p.Gly11Cys) | |
8 | g.60741464G>A | CA371295131 | CHD7 | n.545G>A c.32G>A (p.Gly11Asp) | |
8 | g.60741464G>C | CA371295133 | CHD7 | n.545G>C c.32G>C (p.Gly11Ala) | |
8 | g.60741464G>T | CA371295134 | CHD7 | n.545G>T c.32G>T (p.Gly11Val) | |
8 | g.60741465C>A | CA460837468 | CHD7 | n.546C>A c.33C>A (p.Gly11=) | dbSNP |
8 | g.60741465C= | CA1788094303 | CHD7 | n.546C= c.33C= (p.Gly11=) | |
8 | g.60741465C>G | CA460837470 | CHD7 | n.546C>G c.33C>G (p.Gly11=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60741465C>T | CA4759254 | CHD7 | n.546C>T c.33C>T (p.Gly11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741466G>A | CA4759255 | CHD7 | n.547G>A c.34G>A (p.Glu12Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.60741466G>C | CA371295137 | CHD7 | n.547G>C c.34G>C (p.Glu12Gln) | |
8 | g.60741466G= | CA1788094305 | CHD7 | n.547G= c.34G= (p.Glu12=) | |
8 | g.60741466G>T | CA371295139 | CHD7 | n.547G>T c.34G>T (p.Glu12Ter) | |
8 | g.60741467A>C | CA371295140 | CHD7 | n.548A>C c.35A>C (p.Glu12Ala) | |
8 | g.60741467A>G | CA371295141 | CHD7 | n.548A>G c.35A>G (p.Glu12Gly) | |
8 | g.60741467A>T | CA371295142 | CHD7 | n.548A>T c.35A>T (p.Glu12Val) | |
8 | g.60741468G>A | CA460837478 | CHD7 | n.549G>A c.36G>A (p.Glu12=) | ClinVar |
8 | g.60741468G>C | CA371295144 | CHD7 | n.549G>C c.36G>C (p.Glu12Asp) | |
8 | g.60741468G= | CA1788094309 | CHD7 | n.549G= c.36G= (p.Glu12=) | |
8 | g.60741468G>T | CA371295146 | CHD7 | n.549G>T c.36G>T (p.Glu12Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60741469G>A | CA371295147 | CHD7 | n.550G>A c.37G>A (p.Asp13Asn) | |
8 | g.60741469G>C | CA371295151 | CHD7 | n.550G>C c.37G>C (p.Asp13His) | |
8 | g.60741469G>T | CA371295149 | CHD7 | n.550G>T c.37G>T (p.Asp13Tyr) | |
8 | g.60741470A>C | CA371295153 | CHD7 | n.551A>C c.38A>C (p.Asp13Ala) | |
8 | g.60741470A>G | CA371295154 | CHD7 | n.551A>G c.38A>G (p.Asp13Gly) | |
8 | g.60741470A>T | CA371295156 | CHD7 | n.551A>T c.38A>T (p.Asp13Val) | |
8 | g.60741471T>A | CA371295159 | CHD7 | n.552T>A c.39T>A (p.Asp13Glu) | |
8 | g.60741471T>C | CA460837487 | CHD7 | n.552T>C c.39T>C (p.Asp13=) | |
8 | g.60741471T>G | CA371295160 | CHD7 | n.552T>G c.39T>G (p.Asp13Glu) | |
8 | g.60741472G>A | CA371295162 | CHD7 | n.553G>A c.40G>A (p.Gly14Arg) | |
8 | g.60741472G>C | CA371295163 | CHD7 | n.553G>C c.40G>C (p.Gly14Arg) | |
8 | g.60741472G>T | CA371295165 | CHD7 | n.553G>T c.40G>T (p.Gly14Trp) | |
8 | g.60741473G>A | CA371295167 | CHD7 | n.554G>A c.41G>A (p.Gly14Glu) | |
8 | g.60741473G>C | CA371295169 | CHD7 | n.554G>C c.41G>C (p.Gly14Ala) | |
8 | g.60741473G>T | CA371295171 | CHD7 | n.554G>T c.41G>T (p.Gly14Val) | |
8 | g.60741474G>A | CA460837492 | CHD7 | n.555G>A c.42G>A (p.Gly14=) | ClinVar dbSNP gnomAD v4 |
8 | g.60741474G>C | CA460837493 | CHD7 | n.555G>C c.42G>C (p.Gly14=) | |
8 | g.60741474G= | CA1788094315 | CHD7 | n.555G= c.42G= (p.Gly14=) | |
8 | g.60741474G>T | CA460837495 | CHD7 | n.555G>T c.42G>T (p.Gly14=) | gnomAD v4 |
8 | g.60741475A>C | CA371295172 | CHD7 | n.556A>C c.43A>C (p.Asn15His) | |
8 | g.60741475A>G | CA371295174 | CHD7 | n.556A>G c.43A>G (p.Asn15Asp) |