Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.141331038T>A | CA447045401 | PCDHGA1 | c.354T>A (p.Pro118=) | |
5 | g.141331038T>C | CA447045399 | PCDHGA1 | c.354T>C (p.Pro118=) | |
5 | g.141331038T>G | CA447045398 | PCDHGA1 | c.354T>G (p.Pro118=) | |
5 | g.141331039G>A | CA361339127 | PCDHGA1 | c.355G>A (p.Val119Ile) | dbSNP |
5 | g.141331039G>C | CA361339128 | PCDHGA1 | c.355G>C (p.Val119Leu) | |
5 | g.141331039G= | CA1587147991 | PCDHGA1 | c.355G= (p.Val119=) | |
5 | g.141331039G>T | CA361339129 | PCDHGA1 | c.355G>T (p.Val119Phe) | |
5 | g.141331040T>A | CA361339134 | PCDHGA1 | c.356T>A (p.Val119Asp) | |
5 | g.141331040T>C | CA3466594 | PCDHGA1 | c.356T>C (p.Val119Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141331040T>G | CA361339130 | PCDHGA1 | c.356T>G (p.Val119Gly) | |
5 | g.141331040T= | CA1587147994 | PCDHGA1 | c.356T= (p.Val119=) | |
5 | g.141331040_141331045delinsTTGAAG | CA1587147996 | PCDHGA1 | c.356_361delinsTTGAAG (p.Val119=) | |
5 | g.141331041T>A | CA447045408 | PCDHGA1 | c.357T>A (p.Val119=) | |
5 | g.141331041T>C | CA447045426 | PCDHGA1 | c.357T>C (p.Val119=) | |
5 | g.141331041T>G | CA447045423 | PCDHGA1 | c.357T>G (p.Val119=) | |
5 | g.141331042_141331046del | CA804772582 | PCDHGA1 | c.358_362del (p.Glu120ArgfsTer4) | dbSNP |
5 | g.141331042G>A | CA361339137 | PCDHGA1 | c.358G>A (p.Glu120Lys) | |
5 | g.141331042G>C | CA361339143 | PCDHGA1 | c.358G>C (p.Glu120Gln) | |
5 | g.141331042G>T | CA361339147 | PCDHGA1 | c.358G>T (p.Glu120Ter) | |
5 | g.141331043A>C | CA361339154 | PCDHGA1 | c.359A>C (p.Glu120Ala) | |
5 | g.141331043A>G | CA361339157 | PCDHGA1 | c.359A>G (p.Glu120Gly) | |
5 | g.141331043A>T | CA361339160 | PCDHGA1 | c.359A>T (p.Glu120Val) | |
5 | g.141331044A>C | CA361339169 | PCDHGA1 | c.360A>C (p.Glu120Asp) | |
5 | g.141331044A>G | CA447045434 | PCDHGA1 | c.360A>G (p.Glu120=) | |
5 | g.141331044A>T | CA361339163 | PCDHGA1 | c.360A>T (p.Glu120Asp) | |
5 | g.141331045G>A | CA361339192 | PCDHGA1 | c.361G>A (p.Val121Ile) | |
5 | g.141331045G>C | CA361339195 | PCDHGA1 | c.361G>C (p.Val121Leu) | |
5 | g.141331045G>T | CA361339209 | PCDHGA1 | c.361G>T (p.Val121Leu) | gnomAD v4 |
5 | g.141331046T>A | CA361339212 | PCDHGA1 | c.362T>A (p.Val121Glu) | |
5 | g.141331046T>C | CA361339220 | PCDHGA1 | c.362T>C (p.Val121Ala) | |
5 | g.141331046T>G | CA361339225 | PCDHGA1 | c.362T>G (p.Val121Gly) | gnomAD v4 |
5 | g.141331047A= | CA1587148000 | PCDHGA1 | c.363A= (p.Val121=) | |
5 | g.141331047A>C | CA447045438 | PCDHGA1 | c.363A>C (p.Val121=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.141331047A>G | CA447045439 | PCDHGA1 | c.363A>G (p.Val121=) | gnomAD v4 |
5 | g.141331047A>T | CA447045441 | PCDHGA1 | c.363A>T (p.Val121=) | |
5 | g.141331048G>A | CA3466595 | PCDHGA1 | c.364G>A (p.Glu122Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141331048G>C | CA361339240 | PCDHGA1 | c.364G>C (p.Glu122Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.141331048G= | CA1587148003 | PCDHGA1 | c.364G= (p.Glu122=) | |
5 | g.141331048G>T | CA361339238 | PCDHGA1 | c.364G>T (p.Glu122Ter) | |
5 | g.141331049A>C | CA361339244 | PCDHGA1 | c.365A>C (p.Glu122Ala) | |
5 | g.141331049A>G | CA361339253 | PCDHGA1 | c.365A>G (p.Glu122Gly) | |
5 | g.141331049A>T | CA361339257 | PCDHGA1 | c.365A>T (p.Glu122Val) | |
5 | g.141331050A>C | CA361339258 | PCDHGA1 | c.366A>C (p.Glu122Asp) | |
5 | g.141331050A>G | CA447045446 | PCDHGA1 | c.366A>G (p.Glu122=) | |
5 | g.141331050A>T | CA361339259 | PCDHGA1 | c.366A>T (p.Glu122Asp) | |
5 | g.141331051A>C | CA361339260 | PCDHGA1 | c.367A>C (p.Ile123Leu) | |
5 | g.141331051A>G | CA361339261 | PCDHGA1 | c.367A>G (p.Ile123Val) | |
5 | g.141331051A>T | CA361339262 | PCDHGA1 | c.367A>T (p.Ile123Leu) | |
5 | g.141331052T>A | CA361339263 | PCDHGA1 | c.368T>A (p.Ile123Lys) | |
5 | g.141331052T>C | CA361339265 | PCDHGA1 | c.368T>C (p.Ile123Thr) |