| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.65077609G>A | CA153246 | KBTBD13 | c.794G>A (p.Gly265Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077609G>C | CA392863337 | KBTBD13 | c.794G>C (p.Gly265Ala) | |
| 15 | g.65077609G= | CA2183440330 | KBTBD13 | c.794G= (p.Gly265=) | |
| 15 | g.65077609G>T | CA392863340 | KBTBD13 | c.794G>T (p.Gly265Val) | gnomAD v4 |
| 15 | g.65077610C>A | CA490899142 | KBTBD13 | c.795C>A (p.Gly265=) | |
| 15 | g.65077610C= | CA2183440333 | KBTBD13 | c.795C= (p.Gly265=) | |
| 15 | g.65077610C>G | CA490899145 | KBTBD13 | c.795C>G (p.Gly265=) | |
| 15 | g.65077610C>T | CA7613985 | KBTBD13 | c.795C>T (p.Gly265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077611del | CA2628987451 | KBTBD13 | c.796del (p.Glu266AsnfsTer?) | gnomAD v4 |
| 15 | g.65077611G>A | CA392863352 | KBTBD13 | c.796G>A (p.Glu266Lys) | gnomAD v4 |
| 15 | g.65077611G>C | CA392863355 | KBTBD13 | c.796G>C (p.Glu266Gln) | dbSNP gnomAD v2 |
| 15 | g.65077611G= | CA2183440337 | KBTBD13 | c.796G= (p.Glu266=) | |
| 15 | g.65077611G>T | CA392863359 | KBTBD13 | c.796G>T (p.Glu266Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077612A>C | CA392863365 | KBTBD13 | c.797A>C (p.Glu266Ala) | |
| 15 | g.65077612A>G | CA392863374 | KBTBD13 | c.797A>G (p.Glu266Gly) | |
| 15 | g.65077612A>T | CA392863368 | KBTBD13 | c.797A>T (p.Glu266Val) | |
| 15 | g.65077612_65077613delinsTG | CA2697549138 | KBTBD13 | c.797_798delinsTG (p.Glu266Val) | |
| 15 | g.65077613A= | CA2183440343 | KBTBD13 | c.798A= (p.Glu266=) | |
| 15 | g.65077613A>C | CA392863383 | KBTBD13 | c.798A>C (p.Glu266Asp) | dbSNP gnomAD v4 |
| 15 | g.65077613A>G | CA153249 | KBTBD13 | c.798A>G (p.Glu266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077613A>T | CA392863392 | KBTBD13 | c.798A>T (p.Glu266Asp) | dbSNP gnomAD v4 |
| 15 | g.65077613_65077614insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG | CA970811072 | KBTBD13 | c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG (p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrAlaIleGlyGlyGlu) | gnomAD v3 gnomAD v4 |
| 15 | g.65077614T>A | CA392863398 | KBTBD13 | c.799T>A (p.Phe267Ile) | |
| 15 | g.65077614T>C | CA392863403 | KBTBD13 | c.799T>C (p.Phe267Leu) | |
| 15 | g.65077614T>G | CA392863406 | KBTBD13 | c.799T>G (p.Phe267Val) | |
| 15 | g.65077615T>A | CA392863416 | KBTBD13 | c.800T>A (p.Phe267Tyr) | |
| 15 | g.65077615T>C | CA392863421 | KBTBD13 | c.800T>C (p.Phe267Ser) | gnomAD v4 |
| 15 | g.65077615T>G | CA392863424 | KBTBD13 | c.800T>G (p.Phe267Cys) | |
| 15 | g.65077615T= | CA2183440347 | KBTBD13 | c.800T= (p.Phe267=) | |
| 15 | g.65077616C>A | CA392863451 | KBTBD13 | c.801C>A (p.Phe267Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077616C= | CA2183440351 | KBTBD13 | c.801C= (p.Phe267=) | |
| 15 | g.65077616C>G | CA392863453 | KBTBD13 | c.801C>G (p.Phe267Leu) | |
| 15 | g.65077616C>T | CA490899160 | KBTBD13 | c.801C>T (p.Phe267=) | gnomAD v4 |
| 15 | g.65077617dup | CA7613986 | KBTBD13 | c.802dup (p.Gln268ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077617C>A | CA392863473 | KBTBD13 | c.802C>A (p.Gln268Lys) | gnomAD v4 |
| 15 | g.65077617C= | CA2183440354 | KBTBD13 | c.802C= (p.Gln268=) | |
| 15 | g.65077617C>G | CA392863469 | KBTBD13 | c.802C>G (p.Gln268Glu) | |
| 15 | g.65077617C>T | CA271504136 | KBTBD13 | c.802C>T (p.Gln268Ter) | dbSNP gnomAD v4 |
| 15 | g.65077618A>C | CA392863479 | KBTBD13 | c.803A>C (p.Gln268Pro) | gnomAD v4 |
| 15 | g.65077618A>G | CA392863483 | KBTBD13 | c.803A>G (p.Gln268Arg) | gnomAD v4 |
| 15 | g.65077618A>T | CA392863487 | KBTBD13 | c.803A>T (p.Gln268Leu) | |
| 15 | g.65077619G>A | CA490899162 | KBTBD13 | c.804G>A (p.Gln268=) | gnomAD v4 |
| 15 | g.65077619G>C | CA392863497 | KBTBD13 | c.804G>C (p.Gln268His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077619G= | CA2183440358 | KBTBD13 | c.804G= (p.Gln268=) | |
| 15 | g.65077619G>T | CA392863501 | KBTBD13 | c.804G>T (p.Gln268His) | gnomAD v4 |
| 15 | g.65077620A= | CA2183440360 | KBTBD13 | c.805A= (p.Arg269=) | |
| 15 | g.65077620A>C | CA490899165 | KBTBD13 | c.805A>C (p.Arg269=) | |
| 15 | g.65077620A>G | CA392863509 | KBTBD13 | c.805A>G (p.Arg269Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077620A>T | CA392863514 | KBTBD13 | c.805A>T (p.Arg269Trp) | gnomAD v4 |
| 15 | g.65077621G>A | CA392863522 | KBTBD13 | c.806G>A (p.Arg269Lys) | gnomAD v4 |