Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29477695A>C | CA399189151 | TAOK1 | c.341A>C (p.Asp114Ala) | |
17 | g.29477695A>G | CA399189152 | TAOK1 | c.341A>G (p.Asp114Gly) | gnomAD v4 |
17 | g.29477695A>T | CA399189153 | TAOK1 | c.341A>T (p.Asp114Val) | |
17 | g.29477696T>A | CA399189154 | TAOK1 | c.342T>A (p.Asp114Glu) | |
17 | g.29477696T>C | CA499308443 | TAOK1 | c.342T>C (p.Asp114=) | gnomAD v4 |
17 | g.29477696T>G | CA399189155 | TAOK1 | c.342T>G (p.Asp114Glu) | |
17 | g.29477697T>A | CA399189157 | TAOK1 | c.343T>A (p.Leu115Ile) | |
17 | g.29477697T>C | CA499308444 | TAOK1 | c.343T>C (p.Leu115=) | gnomAD v4 |
17 | g.29477697T>G | CA399189160 | TAOK1 | c.343T>G (p.Leu115Val) | |
17 | g.29477698T>A | CA399189163 | TAOK1 | c.344T>A (p.Leu115Ter) | |
17 | g.29477698T>C | CA399189169 | TAOK1 | c.344T>C (p.Leu115Ser) | gnomAD v4 |
17 | g.29477698T>G | CA399189165 | TAOK1 | c.344T>G (p.Leu115Ter) | |
17 | g.29477699A= | CA2254780492 | TAOK1 | c.345A= (p.Leu115=) | |
17 | g.29477699A>C | CA399189172 | TAOK1 | c.345A>C (p.Leu115Phe) | |
17 | g.29477699A>G | CA499308445 | TAOK1 | c.345A>G (p.Leu115=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29477699A>T | CA399189175 | TAOK1 | c.345A>T (p.Leu115Phe) | gnomAD v4 |
17 | g.29477700C>A | CA399189177 | TAOK1 | c.346C>A (p.Leu116Ile) | gnomAD v4 |
17 | g.29477700C>G | CA399189178 | TAOK1 | c.346C>G (p.Leu116Val) | gnomAD v4 |
17 | g.29477700C>T | CA499308446 | TAOK1 | c.346C>T (p.Leu116=) | dbSNP gnomAD v4 |
17 | g.29477701del | CA2636950360 | TAOK1 | c.347del (p.Leu116GlnfsTer13) | gnomAD v4 |
17 | g.29477701T>A | CA399189182 | TAOK1 | c.347T>A (p.Leu116Gln) | |
17 | g.29477701T>C | CA399189184 | TAOK1 | c.347T>C (p.Leu116Pro) | gnomAD v4 |
17 | g.29477701T>G | CA399189187 | TAOK1 | c.347T>G (p.Leu116Arg) | |
17 | g.29477702A= | CA2254780495 | TAOK1 | c.348A= (p.Leu116=) | |
17 | g.29477702A>C | CA499308447 | TAOK1 | c.348A>C (p.Leu116=) | |
17 | g.29477702A>G | CA499308448 | TAOK1 | c.348A>G (p.Leu116=) | dbSNP gnomAD v4 |
17 | g.29477702A>T | CA499308449 | TAOK1 | c.348A>T (p.Leu116=) | |
17 | g.29477703G>A | CA399189189 | TAOK1 | c.349G>A (p.Glu117Lys) | gnomAD v4 |
17 | g.29477703G>C | CA399189191 | TAOK1 | c.349G>C (p.Glu117Gln) | |
17 | g.29477703G>T | CA399189193 | TAOK1 | c.349G>T (p.Glu117Ter) | gnomAD v4 |
17 | g.29477704A>C | CA399189200 | TAOK1 | c.350A>C (p.Glu117Ala) | |
17 | g.29477704A>G | CA399189199 | TAOK1 | c.350A>G (p.Glu117Gly) | gnomAD v4 |
17 | g.29477704A>T | CA399189196 | TAOK1 | c.350A>T (p.Glu117Val) | gnomAD v4 |
17 | g.29477705del | CA2636950361 | TAOK1 | c.351del (p.Val118PhefsTer11) | gnomAD v4 |
17 | g.29477705A>C | CA399189201 | TAOK1 | c.351A>C (p.Glu117Asp) | |
17 | g.29477705A>G | CA499308450 | TAOK1 | c.351A>G (p.Glu117=) | gnomAD v4 |
17 | g.29477705A>T | CA399189202 | TAOK1 | c.351A>T (p.Glu117Asp) | |
17 | g.29477706G>A | CA399189203 | TAOK1 | c.352G>A (p.Val118Ile) | gnomAD v4 |
17 | g.29477706G>C | CA399189205 | TAOK1 | c.352G>C (p.Val118Leu) | |
17 | g.29477706G>T | CA399189207 | TAOK1 | c.352G>T (p.Val118Phe) | gnomAD v4 |
17 | g.29477706_29477707insTTCACAAAAAGCCATTACAAGAA | CA2636950362 | TAOK1 | c.352_352+1insTTCACAAAAAGCCATTACAAGAA (n.352_352+1insTTCACAAAAAGCCATTACAAGAA) | gnomAD v4 |
17 | g.29477707G>A | CA399189208 | TAOK1 | c.352+1G>A (n.352+1G>A) | gnomAD v4 |
17 | g.29477707G>C | CA399189210 | TAOK1 | c.352+1G>C (n.352+1G>C) | gnomAD v4 |
17 | g.29477707G>T | CA399189212 | TAOK1 | c.352+1G>T (n.352+1G>T) | gnomAD v4 |
17 | g.29477708T>A | CA399189214 | TAOK1 | c.352+2T>A (n.352+2T>A) | |
17 | g.29477708T>C | CA399189215 | TAOK1 | c.352+2T>C (n.352+2T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29477708T>G | CA399189216 | TAOK1 | c.352+2T>G (n.352+2T>G) | |
17 | g.29477708T= | CA2254780496 | TAOK1 | c.352+2T= (n.352+2T=) | |
17 | g.29477708_29477709insGGAAATAGCAGCAATTACAC | CA2636950364 | TAOK1 | c.352+2_352+3insGGAAATAGCAGCAATTACAC (n.352+2_352+3insGGAAATAGCAGCAATTACAC) | gnomAD v4 |
17 | g.29477709A= | CA2254780498 | TAOK1 | c.352+3A= (n.352+3A=) |