| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42184502_42184504dup | CA8573270 | HCRT | c.65_67dup (p.Leu22_Pro23insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184499_42184504dup | CA8573269 | HCRT | c.62_67dup (p.Leu22_Pro23insLeuLeu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184496_42184504dup | CA626217902 | HCRT | c.59_67dup (p.Leu22_Pro23insLeuLeuLeu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184493_42184504dup | CA2637931008 | HCRT | c.56_67dup (p.Leu22_Pro23insLeuLeuLeuLeu) | gnomAD v4 |
| 17 | g.42184502_42184504del | CA8573268 | HCRT | c.65_67del (p.Leu22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.42184499_42184504del | CA8573271 | HCRT | c.62_67del (p.Leu21_Leu22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184496_42184504del | CA626217901 | HCRT | c.59_67del (p.Leu20_Leu22del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42184493_42184504del | CA2637931006 | HCRT | c.56_67del (p.Leu19_Leu22del) | gnomAD v4 |
| 17 | g.42184494_42184508dup | CA2637931011 | HCRT | c.45_59dup (p.Leu20_Leu21insLeuLeuLeuLeuLeu) | gnomAD v4 |
| 17 | g.42184497_42184508dup | CA983804178 | HCRT | c.45_56dup (p.Leu19_Leu20insLeuLeuLeuLeu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184500_42184508dup | CA626217903 | HCRT | c.45_53dup (p.Leu18_Leu19insLeuLeuLeu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184503_42184508dup | CA2260368410 | HCRT | c.45_50dup (p.Leu17_Leu18insLeuLeu) | dbSNP |
| 17 | g.42184503A= | CA2260368412 | HCRT | c.47T= (p.Leu16=) | |
| 17 | g.42184503A>C | CA118704 | HCRT | c.47T>G (p.Leu16Arg) | ClinVar dbSNP |
| 17 | g.42184503A>G | CA399562416 | HCRT | c.47T>C (p.Leu16Pro) | |
| 17 | g.42184503A>T | CA399562417 | HCRT | c.47T>A (p.Leu16Gln) | |
| 17 | g.42184504G>A | CA500214071 | HCRT | c.46C>T (p.Leu16=) | gnomAD v4 |
| 17 | g.42184504G>C | CA399562418 | HCRT | c.46C>G (p.Leu16Val) | dbSNP |
| 17 | g.42184504G= | CA2260368413 | HCRT | c.46C= (p.Leu16=) | |
| 17 | g.42184504G>T | CA399562419 | HCRT | c.46C>A (p.Leu16Met) | gnomAD v4 |
| 17 | g.42184505T>A | CA500214072 | HCRT | c.45A>T (p.Leu15=) | |
| 17 | g.42184505T>C | CA290717931 | HCRT | c.45A>G (p.Leu15=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42184505T>G | CA500214073 | HCRT | c.45A>C (p.Leu15=) | |
| 17 | g.42184505T= | CA2260368414 | HCRT | c.45A= (p.Leu15=) | |
| 17 | g.42184506A= | CA2260368415 | HCRT | c.44T= (p.Leu15=) | |
| 17 | g.42184506A>C | CA399562420 | HCRT | c.44T>G (p.Leu15Arg) | |
| 17 | g.42184506A>G | CA399562421 | HCRT | c.44T>C (p.Leu15Pro) | dbSNP gnomAD v4 |
| 17 | g.42184506A>T | CA399562422 | HCRT | c.44T>A (p.Leu15Gln) | |
| 17 | g.42184507G>A | CA500214074 | HCRT | c.43C>T (p.Leu15=) | gnomAD v4 |
| 17 | g.42184507G>C | CA399562423 | HCRT | c.43C>G (p.Leu15Val) | dbSNP gnomAD v4 |
| 17 | g.42184507G= | CA2260368416 | HCRT | c.43C= (p.Leu15=) | |
| 17 | g.42184507G>T | CA399562424 | HCRT | c.43C>A (p.Leu15Ile) | gnomAD v4 |
| 17 | g.42184508C>A | CA500214075 | HCRT | c.42G>T (p.Thr14=) | gnomAD v4 |
| 17 | g.42184508C= | CA2260368417 | HCRT | c.42G= (p.Thr14=) | |
| 17 | g.42184508C>G | CA500214077 | HCRT | c.42G>C (p.Thr14=) | |
| 17 | g.42184508C>T | CA500214076 | HCRT | c.42G>A (p.Thr14=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184509G>A | CA8573277 | HCRT | c.41C>T (p.Thr14Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184509G>C | CA399562425 | HCRT | c.41C>G (p.Thr14Arg) | |
| 17 | g.42184509G= | CA2260368418 | HCRT | c.41C= (p.Thr14=) | |
| 17 | g.42184509G>T | CA399562426 | HCRT | c.41C>A (p.Thr14Lys) | gnomAD v4 |
| 17 | g.42184510T>A | CA399562429 | HCRT | c.40A>T (p.Thr14Ser) | |
| 17 | g.42184510T>C | CA399562428 | HCRT | c.40A>G (p.Thr14Ala) | dbSNP |
| 17 | g.42184510T>G | CA399562427 | HCRT | c.40A>C (p.Thr14Pro) | |
| 17 | g.42184511C>A | CA500214078 | HCRT | c.39G>T (p.Val13=) | gnomAD v4 |
| 17 | g.42184511C>G | CA500214080 | HCRT | c.39G>C (p.Val13=) | |
| 17 | g.42184511C>T | CA500214079 | HCRT | c.39G>A (p.Val13=) | |
| 17 | g.42184512A>C | CA399562430 | HCRT | c.38T>G (p.Val13Gly) | |
| 17 | g.42184512A>G | CA399562432 | HCRT | c.38T>C (p.Val13Ala) | |
| 17 | g.42184512A>T | CA399562431 | HCRT | c.38T>A (p.Val13Glu) | |
| 17 | g.42184513C>A | CA399562433 | HCRT | c.37G>T (p.Val13Leu) | gnomAD v4 |