| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153954540_153954546delinsGGGTCAC | CA2466540176 | HCFC1 | c.3853_3859delinsGTGACCC (p.Val1285=) c.3655_3661delinsGTGACCC (p.Val1219=) c.2944_2950delinsGTGACCC (p.Val982=) | |
| X | g.153954544_153954549del | CA2466540177 | HCFC1 | c.3853_3858del (p.Val1285_Thr1286del) c.3655_3660del (p.Val1219_Thr1220del) c.2944_2949del (p.Val982_Thr983del) | dbSNP |
| X | g.153954542G>A | CA415119032 | HCFC1 | c.3857C>T (p.Thr1286Ile) c.3659C>T (p.Thr1220Ile) c.2948C>T (p.Thr983Ile) | gnomAD v4 |
| X | g.153954542G>C | CA415119036 | HCFC1 | c.3857C>G (p.Thr1286Ser) c.3659C>G (p.Thr1220Ser) c.2948C>G (p.Thr983Ser) | |
| X | g.153954542G>T | CA415119034 | HCFC1 | c.3857C>A (p.Thr1286Asn) c.3659C>A (p.Thr1220Asn) c.2948C>A (p.Thr983Asn) | |
| X | g.153954543T>A | CA415119039 | HCFC1 | c.3856A>T (p.Thr1286Ser) c.3658A>T (p.Thr1220Ser) c.2947A>T (p.Thr983Ser) | |
| X | g.153954543T>C | CA415119040 | HCFC1 | c.3856A>G (p.Thr1286Ala) c.3658A>G (p.Thr1220Ala) c.2947A>G (p.Thr983Ala) | |
| X | g.153954543T>G | CA415119043 | HCFC1 | c.3856A>C (p.Thr1286Pro) c.3658A>C (p.Thr1220Pro) c.2947A>C (p.Thr983Pro) | |
| X | g.153954543_153954546delinsTCAC | CA2466540179 | HCFC1 | c.3853_3856delinsGTGA (p.Val1285=) c.3655_3658delinsGTGA (p.Val1219=) c.2944_2947delinsGTGA (p.Val982=) | |
| X | g.153954544C>A | CA519702050 | HCFC1 | c.3855G>T (p.Val1285=) c.3657G>T (p.Val1219=) c.2946G>T (p.Val982=) | gnomAD v4 |
| X | g.153954544C>G | CA519702049 | HCFC1 | c.3855G>C (p.Val1285=) c.3657G>C (p.Val1219=) c.2946G>C (p.Val982=) | |
| X | g.153954544C>T | CA519702047 | HCFC1 | c.3855G>A (p.Val1285=) c.3657G>A (p.Val1219=) c.2946G>A (p.Val982=) | |
| X | g.153954544_153954546del | CA645289622 | HCFC1 | c.3853_3855del (p.Val1285del) c.3655_3657del (p.Val1219del) c.2944_2946del (p.Val982del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954545A>C | CA415119046 | HCFC1 | c.3854T>G (p.Val1285Gly) c.3656T>G (p.Val1219Gly) c.2945T>G (p.Val982Gly) | |
| X | g.153954545A>G | CA415119047 | HCFC1 | c.3854T>C (p.Val1285Ala) c.3656T>C (p.Val1219Ala) c.2945T>C (p.Val982Ala) | |
| X | g.153954545A>T | CA415119050 | HCFC1 | c.3854T>A (p.Val1285Glu) c.3656T>A (p.Val1219Glu) c.2945T>A (p.Val982Glu) | |
| X | g.153954546C>A | CA415119053 | HCFC1 | c.3853G>T (p.Val1285Leu) c.3655G>T (p.Val1219Leu) c.2944G>T (p.Val982Leu) | |
| X | g.153954546C= | CA2466540180 | HCFC1 | c.3853G= (p.Val1285=) c.3655G= (p.Val1219=) c.2944G= (p.Val982=) | |
| X | g.153954546C>G | CA415119055 | HCFC1 | c.3853G>C (p.Val1285Leu) c.3655G>C (p.Val1219Leu) c.2944G>C (p.Val982Leu) | |
| X | g.153954546C>T | CA10557124 | HCFC1 | c.3853G>A (p.Val1285Met) c.3655G>A (p.Val1219Met) c.2944G>A (p.Val982Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954547G>A | CA10557125 | HCFC1 | c.3852C>T (p.Thr1284=) c.3654C>T (p.Thr1218=) c.2943C>T (p.Thr981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.153954547G>C | CA519702055 | HCFC1 | c.3852C>G (p.Thr1284=) c.3654C>G (p.Thr1218=) c.2943C>G (p.Thr981=) | |
| X | g.153954547G= | CA2466540181 | HCFC1 | c.3852C= (p.Thr1284=) c.3654C= (p.Thr1218=) c.2943C= (p.Thr981=) | |
| X | g.153954547G>T | CA519702056 | HCFC1 | c.3852C>A (p.Thr1284=) c.3654C>A (p.Thr1218=) c.2943C>A (p.Thr981=) | |
| X | g.153954548G>A | CA415119061 | HCFC1 | c.3851C>T (p.Thr1284Ile) c.3653C>T (p.Thr1218Ile) c.2942C>T (p.Thr981Ile) | gnomAD v4 |
| X | g.153954548G>C | CA415119065 | HCFC1 | c.3851C>G (p.Thr1284Ser) c.3653C>G (p.Thr1218Ser) c.2942C>G (p.Thr981Ser) | |
| X | g.153954548G>T | CA415119063 | HCFC1 | c.3851C>A (p.Thr1284Asn) c.3653C>A (p.Thr1218Asn) c.2942C>A (p.Thr981Asn) | |
| X | g.153954548_153954555delinsGTGGCCGA | CA2466540182 | HCFC1 | c.3844_3851delinsTCGGCCAC (p.Ser1282=) c.3646_3653delinsTCGGCCAC (p.Ser1216=) c.2935_2942delinsTCGGCCAC (p.Ser979=) | |
| X | g.153954549T>A | CA415119067 | HCFC1 | c.3850A>T (p.Thr1284Ser) c.3652A>T (p.Thr1218Ser) c.2941A>T (p.Thr981Ser) | |
| X | g.153954549T>C | CA415119070 | HCFC1 | c.3850A>G (p.Thr1284Ala) c.3652A>G (p.Thr1218Ala) c.2941A>G (p.Thr981Ala) | |
| X | g.153954549T>G | CA415119071 | HCFC1 | c.3850A>C (p.Thr1284Pro) c.3652A>C (p.Thr1218Pro) c.2941A>C (p.Thr981Pro) | |
| X | g.153954549_153954555del | CA645289623 | HCFC1 | c.3844_3850del (p.Ser1282ProfsTer2) c.3646_3652del (p.Ser1216ProfsTer2) c.2935_2941del (p.Ser979ProfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954550G>A | CA519702063 | HCFC1 | c.3849C>T (p.Ala1283=) c.3651C>T (p.Ala1217=) c.2940C>T (p.Ala980=) | |
| X | g.153954550G>C | CA519702064 | HCFC1 | c.3849C>G (p.Ala1283=) c.3651C>G (p.Ala1217=) c.2940C>G (p.Ala980=) | |
| X | g.153954550G>T | CA519702065 | HCFC1 | c.3849C>A (p.Ala1283=) c.3651C>A (p.Ala1217=) c.2940C>A (p.Ala980=) | |
| X | g.153954551G>A | CA337252604 | HCFC1 | c.3848C>T (p.Ala1283Val) c.3650C>T (p.Ala1217Val) c.2939C>T (p.Ala980Val) | dbSNP |
| X | g.153954551G>C | CA415119076 | HCFC1 | c.3848C>G (p.Ala1283Gly) c.3650C>G (p.Ala1217Gly) c.2939C>G (p.Ala980Gly) | |
| X | g.153954551G= | CA2466540184 | HCFC1 | c.3848C= (p.Ala1283=) c.3650C= (p.Ala1217=) c.2939C= (p.Ala980=) | |
| X | g.153954551G>T | CA415119078 | HCFC1 | c.3848C>A (p.Ala1283Asp) c.3650C>A (p.Ala1217Asp) c.2939C>A (p.Ala980Asp) | |
| X | g.153954551_153954553delinsGCC | CA2466540183 | HCFC1 | c.3846_3848delinsGGC (p.Ser1282=) c.3648_3650delinsGGC (p.Ser1216=) c.2937_2939delinsGGC (p.Ser979=) | |
| X | g.153954552C>A | CA415119079 | HCFC1 | c.3847G>T (p.Ala1283Ser) c.3649G>T (p.Ala1217Ser) c.2938G>T (p.Ala980Ser) | |
| X | g.153954552C= | CA2466540186 | HCFC1 | c.3847G= (p.Ala1283=) c.3649G= (p.Ala1217=) c.2938G= (p.Ala980=) | |
| X | g.153954552C>G | CA415119082 | HCFC1 | c.3847G>C (p.Ala1283Pro) c.3649G>C (p.Ala1217Pro) c.2938G>C (p.Ala980Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153954552C>T | CA415119084 | HCFC1 | c.3847G>A (p.Ala1283Thr) c.3649G>A (p.Ala1217Thr) c.2938G>A (p.Ala980Thr) | |
| X | g.153954552_153954553del | CA2466540185 | HCFC1 | c.3846_3847del (p.Ala1283HisfsTer12) c.3648_3649del (p.Ala1217HisfsTer12) c.2937_2938del (p.Ala980HisfsTer12) | dbSNP |
| X | g.153954553C>A | CA519702075 | HCFC1 | c.3846G>T (p.Ser1282=) c.3648G>T (p.Ser1216=) c.2937G>T (p.Ser979=) | |
| X | g.153954553C= | CA2466540187 | HCFC1 | c.3846G= (p.Ser1282=) c.3648G= (p.Ser1216=) c.2937G= (p.Ser979=) | |
| X | g.153954553C>G | CA519702076 | HCFC1 | c.3846G>C (p.Ser1282=) c.3648G>C (p.Ser1216=) c.2937G>C (p.Ser979=) | |
| X | g.153954553C>T | CA10557126 | HCFC1 | c.3846G>A (p.Ser1282=) c.3648G>A (p.Ser1216=) c.2937G>A (p.Ser979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954554G>A | CA10557127 | HCFC1 | c.3845C>T (p.Ser1282Leu) c.3647C>T (p.Ser1216Leu) c.2936C>T (p.Ser979Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |