Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.44942774T>A | CA346800101 | SIX3 | c.670T>A (p.Trp224Arg) | |
2 | g.44942774T>C | CA346800102 | SIX3 | c.670T>C (p.Trp224Arg) | |
2 | g.44942774T>G | CA346800103 | SIX3 | c.670T>G (p.Trp224Gly) | gnomAD v4 |
2 | g.44942775G>A | CA346800104 | SIX3 | c.671G>A (p.Trp224Ter) | |
2 | g.44942775G>C | CA346800105 | SIX3 | c.671G>C (p.Trp224Ser) | |
2 | g.44942775G>T | CA346800106 | SIX3 | c.671G>T (p.Trp224Leu) | |
2 | g.44942776G>A | CA346800107 | SIX3 | c.672G>A (p.Trp224Ter) | |
2 | g.44942776G>C | CA346800108 | SIX3 | c.672G>C (p.Trp224Cys) | |
2 | g.44942776G>T | CA346800109 | SIX3 | c.672G>T (p.Trp224Cys) | |
2 | g.44942777T>A | CA346800110 | SIX3 | c.673T>A (p.Tyr225Asn) | |
2 | g.44942777T>C | CA346800111 | SIX3 | c.673T>C (p.Tyr225His) | gnomAD v4 |
2 | g.44942777T>G | CA346800112 | SIX3 | c.673T>G (p.Tyr225Asp) | |
2 | g.44942778A>C | CA346800113 | SIX3 | c.674A>C (p.Tyr225Ser) | |
2 | g.44942778A>G | CA346800115 | SIX3 | c.674A>G (p.Tyr225Cys) | |
2 | g.44942778A>T | CA346800114 | SIX3 | c.674A>T (p.Tyr225Phe) | |
2 | g.44942779C>A | CA346800116 | SIX3 | c.675C>A (p.Tyr225Ter) | |
2 | g.44942779C= | CA2494534918 | SIX3 | c.675C= (p.Tyr225=) | |
2 | g.44942779C>G | CA346800117 | SIX3 | c.675C>G (p.Tyr225Ter) | |
2 | g.44942779C>T | CA1642357 | SIX3 | c.675C>T (p.Tyr225=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942780C>A | CA346800118 | SIX3 | c.676C>A (p.Leu226Ile) | gnomAD v4 |
2 | g.44942780C= | CA2494534921 | SIX3 | c.676C= (p.Leu226=) | |
2 | g.44942780C>G | CA340519 | SIX3 | c.676C>G (p.Leu226Val) | ClinVar dbSNP |
2 | g.44942780C>T | CA426045795 | SIX3 | c.676C>T (p.Leu226=) | gnomAD v4 |
2 | g.44942781T>A | CA346800119 | SIX3 | c.677T>A (p.Leu226Gln) | |
2 | g.44942781T>C | CA346800120 | SIX3 | c.677T>C (p.Leu226Pro) | |
2 | g.44942781T>G | CA346800121 | SIX3 | c.677T>G (p.Leu226Arg) | |
2 | g.44942782A= | CA2494534924 | SIX3 | c.678A= (p.Leu226=) | |
2 | g.44942782A>C | CA426045796 | SIX3 | c.678A>C (p.Leu226=) | |
2 | g.44942782A>G | CA426045797 | SIX3 | c.678A>G (p.Leu226=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942782A>T | CA426045798 | SIX3 | c.678A>T (p.Leu226=) | |
2 | g.44942783C>A | CA346800122 | SIX3 | c.679C>A (p.Gln227Lys) | |
2 | g.44942783C>G | CA346800123 | SIX3 | c.679C>G (p.Gln227Glu) | |
2 | g.44942783C>T | CA346800124 | SIX3 | c.679C>T (p.Gln227Ter) | |
2 | g.44942784A>C | CA346800125 | SIX3 | c.680A>C (p.Gln227Pro) | |
2 | g.44942784A>G | CA346800126 | SIX3 | c.680A>G (p.Gln227Arg) | |
2 | g.44942784A>T | CA346800127 | SIX3 | c.680A>T (p.Gln227Leu) | |
2 | g.44942785G>A | CA426045799 | SIX3 | c.681G>A (p.Gln227=) | |
2 | g.44942785G>C | CA346800128 | SIX3 | c.681G>C (p.Gln227His) | |
2 | g.44942785G>T | CA346800129 | SIX3 | c.681G>T (p.Gln227His) | |
2 | g.44942786G>A | CA346800132 | SIX3 | c.682G>A (p.Asp228Asn) | |
2 | g.44942786G>C | CA346800131 | SIX3 | c.682G>C (p.Asp228His) | |
2 | g.44942786G>T | CA346800130 | SIX3 | c.682G>T (p.Asp228Tyr) | gnomAD v4 |
2 | g.44942787A>C | CA346800133 | SIX3 | c.683A>C (p.Asp228Ala) | |
2 | g.44942787A>G | CA346800134 | SIX3 | c.683A>G (p.Asp228Gly) | |
2 | g.44942787A>T | CA346800135 | SIX3 | c.683A>T (p.Asp228Val) | |
2 | g.44942788C>A | CA346800136 | SIX3 | c.684C>A (p.Asp228Glu) | |
2 | g.44942788C>G | CA346800137 | SIX3 | c.684C>G (p.Asp228Glu) | |
2 | g.44942788C>T | CA426045800 | SIX3 | c.684C>T (p.Asp228=) | |
2 | g.44942789C>A | CA346800138 | SIX3 | c.685C>A (p.Pro229Thr) | |
2 | g.44942789C>G | CA346800139 | SIX3 | c.685C>G (p.Pro229Ala) |