| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.39446909_39446911dup | CA2670372696 | KLB | c.2183_2185dup (p.Arg728_Gln729insArg) c.2156_2158dup (p.Arg719_Gln720insArg) | gnomAD v4 |
| 4 | g.39446909G>A | CA2893955 | KLB | c.2183G>A (p.Arg728Gln) c.2156G>A (p.Arg719Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.39446909G>C | CA356657508 | KLB | c.2183G>C (p.Arg728Pro) c.2156G>C (p.Arg719Pro) | gnomAD v4 |
| 4 | g.39446909G= | CA1452131094 | KLB | c.2183G= (p.Arg728=) c.2156G= (p.Arg719=) | |
| 4 | g.39446909G>T | CA356657509 | KLB | c.2183G>T (p.Arg728Leu) c.2156G>T (p.Arg719Leu) | gnomAD v4 |
| 4 | g.39446910G>A | CA439137875 | KLB | c.2184G>A (p.Arg728=) c.2157G>A (p.Arg719=) | gnomAD v4 |
| 4 | g.39446910G>C | CA439137870 | KLB | c.2184G>C (p.Arg728=) c.2157G>C (p.Arg719=) | |
| 4 | g.39446910G>T | CA439137873 | KLB | c.2184G>T (p.Arg728=) c.2157G>T (p.Arg719=) | gnomAD v4 |
| 4 | g.39446911C>A | CA356657510 | KLB | c.2185C>A (p.Gln729Lys) c.2158C>A (p.Gln720Lys) | gnomAD v4 |
| 4 | g.39446911C>G | CA356657511 | KLB | c.2185C>G (p.Gln729Glu) c.2158C>G (p.Gln720Glu) | |
| 4 | g.39446911C>T | CA356657512 | KLB | c.2185C>T (p.Gln729Ter) c.2158C>T (p.Gln720Ter) | gnomAD v4 |
| 4 | g.39446912A= | CA1452131095 | KLB | c.2186A= (p.Gln729=) c.2159A= (p.Gln720=) | |
| 4 | g.39446912A>C | CA356657513 | KLB | c.2186A>C (p.Gln729Pro) c.2159A>C (p.Gln720Pro) | |
| 4 | g.39446912A>G | CA356657514 | KLB | c.2186A>G (p.Gln729Arg) c.2159A>G (p.Gln720Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.39446912A>T | CA356657515 | KLB | c.2186A>T (p.Gln729Leu) c.2159A>T (p.Gln720Leu) | gnomAD v4 |
| 4 | g.39446913G>A | CA439137879 | KLB | c.2187G>A (p.Gln729=) c.2160G>A (p.Gln720=) | |
| 4 | g.39446913G>C | CA356657516 | KLB | c.2187G>C (p.Gln729His) c.2160G>C (p.Gln720His) | |
| 4 | g.39446913G>T | CA356657517 | KLB | c.2187G>T (p.Gln729His) c.2160G>T (p.Gln720His) | gnomAD v4 |
| 4 | g.39446914T>A | CA356657518 | KLB | c.2188T>A (p.Phe730Ile) c.2161T>A (p.Phe721Ile) | |
| 4 | g.39446914T>C | CA356657520 | KLB | c.2188T>C (p.Phe730Leu) c.2161T>C (p.Phe721Leu) | |
| 4 | g.39446914T>G | CA356657519 | KLB | c.2188T>G (p.Phe730Val) c.2161T>G (p.Phe721Val) | |
| 4 | g.39446915T>A | CA356657521 | KLB | c.2189T>A (p.Phe730Tyr) c.2162T>A (p.Phe721Tyr) | |
| 4 | g.39446915T>C | CA356657522 | KLB | c.2189T>C (p.Phe730Ser) c.2162T>C (p.Phe721Ser) | |
| 4 | g.39446915T>G | CA356657523 | KLB | c.2189T>G (p.Phe730Cys) c.2162T>G (p.Phe721Cys) | |
| 4 | g.39446916C>A | CA356657524 | KLB | c.2190C>A (p.Phe730Leu) c.2163C>A (p.Phe721Leu) | gnomAD v4 |
| 4 | g.39446916C= | CA1452131096 | KLB | c.2190C= (p.Phe730=) c.2163C= (p.Phe721=) | |
| 4 | g.39446916C>G | CA356657525 | KLB | c.2190C>G (p.Phe730Leu) c.2163C>G (p.Phe721Leu) | |
| 4 | g.39446916C>T | CA2893956 | KLB | c.2190C>T (p.Phe730=) c.2163C>T (p.Phe721=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.39446917A= | CA1452131097 | KLB | c.2191A= (p.Arg731=) c.2164A= (p.Arg722=) | |
| 4 | g.39446917A>C | CA439137885 | KLB | c.2191A>C (p.Arg731=) c.2164A>C (p.Arg722=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.39446917A>G | CA356657526 | KLB | c.2191A>G (p.Arg731Gly) c.2164A>G (p.Arg722Gly) | |
| 4 | g.39446917A>T | CA356657527 | KLB | c.2191A>T (p.Arg731Trp) c.2164A>T (p.Arg722Trp) | |
| 4 | g.39446918G>A | CA356657528 | KLB | c.2192G>A (p.Arg731Lys) c.2165G>A (p.Arg722Lys) | |
| 4 | g.39446918G>C | CA356657529 | KLB | c.2192G>C (p.Arg731Thr) c.2165G>C (p.Arg722Thr) | |
| 4 | g.39446918G>T | CA356657530 | KLB | c.2192G>T (p.Arg731Met) c.2165G>T (p.Arg722Met) | gnomAD v4 |
| 4 | g.39446919G>A | CA439137900 | KLB | c.2193G>A (p.Arg731=) c.2166G>A (p.Arg722=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.39446919G>C | CA356657531 | KLB | c.2193G>C (p.Arg731Ser) c.2166G>C (p.Arg722Ser) | |
| 4 | g.39446919G= | CA1452131098 | KLB | c.2193G= (p.Arg731=) c.2166G= (p.Arg722=) | |
| 4 | g.39446919G>T | CA356657532 | KLB | c.2193G>T (p.Arg731Ser) c.2166G>T (p.Arg722Ser) | gnomAD v4 |
| 4 | g.39446919_39446922del | CA2578069620 | KLB | c.2193_2196del (p.Arg731SerfsTer?) c.2166_2169del (p.Arg722SerfsTer?) | |
| 4 | g.39446920C>A | CA356657534 | KLB | c.2194C>A (p.Pro732Thr) c.2167C>A (p.Pro723Thr) | gnomAD v4 |
| 4 | g.39446920C= | CA1452131099 | KLB | c.2194C= (p.Pro732=) c.2167C= (p.Pro723=) | |
| 4 | g.39446920C>G | CA2893957 | KLB | c.2194C>G (p.Pro732Ala) c.2167C>G (p.Pro723Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.39446920C>T | CA356657533 | KLB | c.2194C>T (p.Pro732Ser) c.2167C>T (p.Pro723Ser) | gnomAD v4 |
| 4 | g.39446922del | CA2578069621 | KLB | c.2196del (p.Ser733HisfsTer?) c.2169del (p.Ser724HisfsTer?) | gnomAD v4 |
| 4 | g.39446921_39446922del | CA2670372697 | KLB | c.2195_2196del (p.Pro732LeufsTer23) c.2168_2169del (p.Pro723LeufsTer23) | gnomAD v4 |
| 4 | g.39446921C>A | CA356657535 | KLB | c.2195C>A (p.Pro732His) c.2168C>A (p.Pro723His) | gnomAD v4 |
| 4 | g.39446921C>G | CA356657536 | KLB | c.2195C>G (p.Pro732Arg) c.2168C>G (p.Pro723Arg) | gnomAD v4 COSMIC |
| 4 | g.39446921C>T | CA356657537 | KLB | c.2195C>T (p.Pro732Leu) c.2168C>T (p.Pro723Leu) | gnomAD v4 |
| 4 | g.39446922C>A | CA2893959 | KLB | c.2196C>A (p.Pro732=) c.2169C>A (p.Pro723=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |