Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153955325G>A | CA415126320 | HCFC1 | c.3074C>T (p.Thr1025Ile) c.2876C>T (p.Thr959Ile) c.2165C>T (p.Thr722Ile) | gnomAD v4 |
X | g.153955325G>C | CA415126321 | HCFC1 | c.3074C>G (p.Thr1025Ser) c.2876C>G (p.Thr959Ser) c.2165C>G (p.Thr722Ser) | |
X | g.153955325G>T | CA415126324 | HCFC1 | c.3074C>A (p.Thr1025Asn) c.2876C>A (p.Thr959Asn) c.2165C>A (p.Thr722Asn) | |
X | g.153955326T>A | CA415126327 | HCFC1 | c.3073A>T (p.Thr1025Ser) c.2875A>T (p.Thr959Ser) c.2164A>T (p.Thr722Ser) | |
X | g.153955326T>C | CA415126333 | HCFC1 | c.3073A>G (p.Thr1025Ala) c.2875A>G (p.Thr959Ala) c.2164A>G (p.Thr722Ala) | |
X | g.153955326T>G | CA415126330 | HCFC1 | c.3073A>C (p.Thr1025Pro) c.2875A>C (p.Thr959Pro) c.2164A>C (p.Thr722Pro) | |
X | g.153955327G>A | CA519702705 | HCFC1 | c.3072C>T (p.Gly1024=) c.2874C>T (p.Gly958=) c.2163C>T (p.Gly721=) | |
X | g.153955327G>C | CA519702706 | HCFC1 | c.3072C>G (p.Gly1024=) c.2874C>G (p.Gly958=) c.2163C>G (p.Gly721=) | dbSNP |
X | g.153955327G>T | CA519702707 | HCFC1 | c.3072C>A (p.Gly1024=) c.2874C>A (p.Gly958=) c.2163C>A (p.Gly721=) | |
X | g.153955328C>A | CA415126335 | HCFC1 | c.3071G>T (p.Gly1024Val) c.2873G>T (p.Gly958Val) c.2162G>T (p.Gly721Val) | |
X | g.153955328C>G | CA415126337 | HCFC1 | c.3071G>C (p.Gly1024Ala) c.2873G>C (p.Gly958Ala) c.2162G>C (p.Gly721Ala) | |
X | g.153955328C>T | CA415126339 | HCFC1 | c.3071G>A (p.Gly1024Asp) c.2873G>A (p.Gly958Asp) c.2162G>A (p.Gly721Asp) | gnomAD v4 |
X | g.153955329del | CA2579735269 | HCFC1 | c.3071del (p.Gly1024AlafsTer?) c.2873del (p.Gly958AlafsTer?) c.2162del (p.Gly721AlafsTer?) | |
X | g.153955329C>A | CA10557242 | HCFC1 | c.3070G>T (p.Gly1024Cys) c.2872G>T (p.Gly958Cys) c.2161G>T (p.Gly721Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153955329C= | CA2466540502 | HCFC1 | c.3070G= (p.Gly1024=) c.2872G= (p.Gly958=) c.2161G= (p.Gly721=) | |
X | g.153955329C>G | CA415126342 | HCFC1 | c.3070G>C (p.Gly1024Arg) c.2872G>C (p.Gly958Arg) c.2161G>C (p.Gly721Arg) | |
X | g.153955329C>T | CA415126344 | HCFC1 | c.3070G>A (p.Gly1024Ser) c.2872G>A (p.Gly958Ser) c.2161G>A (p.Gly721Ser) | |
X | g.153955330A= | CA2466540503 | HCFC1 | c.3069T= (p.Thr1023=) c.2871T= (p.Thr957=) c.2160T= (p.Thr720=) | |
X | g.153955330A>C | CA519702710 | HCFC1 | c.3069T>G (p.Thr1023=) c.2871T>G (p.Thr957=) c.2160T>G (p.Thr720=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.153955330A>G | CA519702709 | HCFC1 | c.3069T>C (p.Thr1023=) c.2871T>C (p.Thr957=) c.2160T>C (p.Thr720=) | |
X | g.153955330A>T | CA519702708 | HCFC1 | c.3069T>A (p.Thr1023=) c.2871T>A (p.Thr957=) c.2160T>A (p.Thr720=) | gnomAD v4 |
X | g.153955331G>A | CA415126346 | HCFC1 | c.3068C>T (p.Thr1023Ile) c.2870C>T (p.Thr957Ile) c.2159C>T (p.Thr720Ile) | |
X | g.153955331G>C | CA415126348 | HCFC1 | c.3068C>G (p.Thr1023Ser) c.2870C>G (p.Thr957Ser) c.2159C>G (p.Thr720Ser) | |
X | g.153955331G>T | CA415126349 | HCFC1 | c.3068C>A (p.Thr1023Asn) c.2870C>A (p.Thr957Asn) c.2159C>A (p.Thr720Asn) | |
X | g.153955332T>A | CA415126354 | HCFC1 | c.3067A>T (p.Thr1023Ser) c.2869A>T (p.Thr957Ser) c.2158A>T (p.Thr720Ser) | |
X | g.153955332T>C | CA415126355 | HCFC1 | c.3067A>G (p.Thr1023Ala) c.2869A>G (p.Thr957Ala) c.2158A>G (p.Thr720Ala) | |
X | g.153955332T>G | CA415126352 | HCFC1 | c.3067A>C (p.Thr1023Pro) c.2869A>C (p.Thr957Pro) c.2158A>C (p.Thr720Pro) | |
X | g.153955333C>A | CA415126358 | HCFC1 | c.3066G>T (p.Glu1022Asp) c.2868G>T (p.Glu956Asp) c.2157G>T (p.Glu719Asp) | |
X | g.153955333C>G | CA415126360 | HCFC1 | c.3066G>C (p.Glu1022Asp) c.2868G>C (p.Glu956Asp) c.2157G>C (p.Glu719Asp) | |
X | g.153955333C>T | CA519702711 | HCFC1 | c.3066G>A (p.Glu1022=) c.2868G>A (p.Glu956=) c.2157G>A (p.Glu719=) | |
X | g.153955334T>A | CA415126362 | HCFC1 | c.3065A>T (p.Glu1022Val) c.2867A>T (p.Glu956Val) c.2156A>T (p.Glu719Val) | |
X | g.153955334T>C | CA415126364 | HCFC1 | c.3065A>G (p.Glu1022Gly) c.2867A>G (p.Glu956Gly) c.2156A>G (p.Glu719Gly) | |
X | g.153955334T>G | CA415126366 | HCFC1 | c.3065A>C (p.Glu1022Ala) c.2867A>C (p.Glu956Ala) c.2156A>C (p.Glu719Ala) | |
X | g.153955335C>A | CA415126372 | HCFC1 | c.3064G>T (p.Glu1022Ter) c.2866G>T (p.Glu956Ter) c.2155G>T (p.Glu719Ter) | |
X | g.153955335C>G | CA415126369 | HCFC1 | c.3064G>C (p.Glu1022Gln) c.2866G>C (p.Glu956Gln) c.2155G>C (p.Glu719Gln) | |
X | g.153955335C>T | CA415126370 | HCFC1 | c.3064G>A (p.Glu1022Lys) c.2866G>A (p.Glu956Lys) c.2155G>A (p.Glu719Lys) | gnomAD v4 |
X | g.153955336G>A | CA519702712 | HCFC1 | c.3063C>T (p.His1021=) c.2865C>T (p.His955=) c.2154C>T (p.His718=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153955336G>C | CA415126373 | HCFC1 | c.3063C>G (p.His1021Gln) c.2865C>G (p.His955Gln) c.2154C>G (p.His718Gln) | |
X | g.153955336G= | CA2466540504 | HCFC1 | c.3063C= (p.His1021=) c.2865C= (p.His955=) c.2154C= (p.His718=) | |
X | g.153955336G>T | CA415126376 | HCFC1 | c.3063C>A (p.His1021Gln) c.2865C>A (p.His955Gln) c.2154C>A (p.His718Gln) | |
X | g.153955337_153955339del | CA2579735270 | HCFC1 | c.3061_3063del (p.His1021del) c.2863_2865del (p.His955del) c.2152_2154del (p.His718del) | |
X | g.153955337T>A | CA415126379 | HCFC1 | c.3062A>T (p.His1021Leu) c.2864A>T (p.His955Leu) c.2153A>T (p.His718Leu) | |
X | g.153955337T>C | CA415126381 | HCFC1 | c.3062A>G (p.His1021Arg) c.2864A>G (p.His955Arg) c.2153A>G (p.His718Arg) | |
X | g.153955337T>G | CA415126383 | HCFC1 | c.3062A>C (p.His1021Pro) c.2864A>C (p.His955Pro) c.2153A>C (p.His718Pro) | |
X | g.153955338G>A | CA415126385 | HCFC1 | c.3061C>T (p.His1021Tyr) c.2863C>T (p.His955Tyr) c.2152C>T (p.His718Tyr) | |
X | g.153955338G>C | CA415126389 | HCFC1 | c.3061C>G (p.His1021Asp) c.2863C>G (p.His955Asp) c.2152C>G (p.His718Asp) | |
X | g.153955338G>T | CA415126387 | HCFC1 | c.3061C>A (p.His1021Asn) c.2863C>A (p.His955Asn) c.2152C>A (p.His718Asn) | |
X | g.153955339G>A | CA519702713 | HCFC1 | c.3060C>T (p.Thr1020=) c.2862C>T (p.Thr954=) c.2151C>T (p.Thr717=) | |
X | g.153955339G>C | CA519702714 | HCFC1 | c.3060C>G (p.Thr1020=) c.2862C>G (p.Thr954=) c.2151C>G (p.Thr717=) | |
X | g.153955339G>T | CA519702715 | HCFC1 | c.3060C>A (p.Thr1020=) c.2862C>A (p.Thr954=) c.2151C>A (p.Thr717=) |