| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153954523del | CA2579735259 | HCFC1 | c.3876del (p.Pro1293HisfsTer?) c.3678del (p.Pro1227HisfsTer?) c.2967del (p.Pro990HisfsTer?) | |
| X | g.153954523T>A | CA519702009 | HCFC1 | c.3876A>T (p.Pro1292=) c.3678A>T (p.Pro1226=) c.2967A>T (p.Pro989=) | |
| X | g.153954523T>C | CA519702008 | HCFC1 | c.3876A>G (p.Pro1292=) c.3678A>G (p.Pro1226=) c.2967A>G (p.Pro989=) | |
| X | g.153954523T>G | CA519702007 | HCFC1 | c.3876A>C (p.Pro1292=) c.3678A>C (p.Pro1226=) c.2967A>C (p.Pro989=) | |
| X | g.153954524G>A | CA415118940 | HCFC1 | c.3875C>T (p.Pro1292Leu) c.3677C>T (p.Pro1226Leu) c.2966C>T (p.Pro989Leu) | |
| X | g.153954524G>C | CA415118944 | HCFC1 | c.3875C>G (p.Pro1292Arg) c.3677C>G (p.Pro1226Arg) c.2966C>G (p.Pro989Arg) | |
| X | g.153954524G>T | CA415118942 | HCFC1 | c.3875C>A (p.Pro1292Gln) c.3677C>A (p.Pro1226Gln) c.2966C>A (p.Pro989Gln) | COSMIC COSMIC |
| X | g.153954525G>A | CA415118947 | HCFC1 | c.3874C>T (p.Pro1292Ser) c.3676C>T (p.Pro1226Ser) c.2965C>T (p.Pro989Ser) | |
| X | g.153954525G>C | CA415118949 | HCFC1 | c.3874C>G (p.Pro1292Ala) c.3676C>G (p.Pro1226Ala) c.2965C>G (p.Pro989Ala) | |
| X | g.153954525G>T | CA415118951 | HCFC1 | c.3874C>A (p.Pro1292Thr) c.3676C>A (p.Pro1226Thr) c.2965C>A (p.Pro989Thr) | |
| X | g.153954526G>A | CA519702014 | HCFC1 | c.3873C>T (p.Asn1291=) c.3675C>T (p.Asn1225=) c.2964C>T (p.Asn988=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954526G>C | CA415118954 | HCFC1 | c.3873C>G (p.Asn1291Lys) c.3675C>G (p.Asn1225Lys) c.2964C>G (p.Asn988Lys) | |
| X | g.153954526G= | CA2466540166 | HCFC1 | c.3873C= (p.Asn1291=) c.3675C= (p.Asn1225=) c.2964C= (p.Asn988=) | |
| X | g.153954526G>T | CA10557119 | HCFC1 | c.3873C>A (p.Asn1291Lys) c.3675C>A (p.Asn1225Lys) c.2964C>A (p.Asn988Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954527T>A | CA415118956 | HCFC1 | c.3872A>T (p.Asn1291Ile) c.3674A>T (p.Asn1225Ile) c.2963A>T (p.Asn988Ile) | |
| X | g.153954527T>C | CA415118959 | HCFC1 | c.3872A>G (p.Asn1291Ser) c.3674A>G (p.Asn1225Ser) c.2963A>G (p.Asn988Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954527T>G | CA415118962 | HCFC1 | c.3872A>C (p.Asn1291Thr) c.3674A>C (p.Asn1225Thr) c.2963A>C (p.Asn988Thr) | |
| X | g.153954527T= | CA2466540167 | HCFC1 | c.3872A= (p.Asn1291=) c.3674A= (p.Asn1225=) c.2963A= (p.Asn988=) | |
| X | g.153954528T>A | CA415118963 | HCFC1 | c.3871A>T (p.Asn1291Tyr) c.3673A>T (p.Asn1225Tyr) c.2962A>T (p.Asn988Tyr) | |
| X | g.153954528T>C | CA415118964 | HCFC1 | c.3871A>G (p.Asn1291Asp) c.3673A>G (p.Asn1225Asp) c.2962A>G (p.Asn988Asp) | |
| X | g.153954528T>G | CA415118967 | HCFC1 | c.3871A>C (p.Asn1291His) c.3673A>C (p.Asn1225His) c.2962A>C (p.Asn988His) | |
| X | g.153954529G>A | CA519702019 | HCFC1 | c.3870C>T (p.Ser1290=) c.3672C>T (p.Ser1224=) c.2961C>T (p.Ser987=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153954529G>C | CA519702020 | HCFC1 | c.3870C>G (p.Ser1290=) c.3672C>G (p.Ser1224=) c.2961C>G (p.Ser987=) | |
| X | g.153954529G= | CA2466540168 | HCFC1 | c.3870C= (p.Ser1290=) c.3672C= (p.Ser1224=) c.2961C= (p.Ser987=) | |
| X | g.153954529G>T | CA519702021 | HCFC1 | c.3870C>A (p.Ser1290=) c.3672C>A (p.Ser1224=) c.2961C>A (p.Ser987=) | gnomAD v3 gnomAD v4 |
| X | g.153954530G>A | CA10557120 | HCFC1 | c.3869C>T (p.Ser1290Phe) c.3671C>T (p.Ser1224Phe) c.2960C>T (p.Ser987Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954530G>C | CA415118971 | HCFC1 | c.3869C>G (p.Ser1290Cys) c.3671C>G (p.Ser1224Cys) c.2960C>G (p.Ser987Cys) | gnomAD v4 |
| X | g.153954530G= | CA2466540169 | HCFC1 | c.3869C= (p.Ser1290=) c.3671C= (p.Ser1224=) c.2960C= (p.Ser987=) | |
| X | g.153954530G>T | CA415118970 | HCFC1 | c.3869C>A (p.Ser1290Tyr) c.3671C>A (p.Ser1224Tyr) c.2960C>A (p.Ser987Tyr) | COSMIC COSMIC |
| X | g.153954531A= | CA2466540170 | HCFC1 | c.3868T= (p.Ser1290=) c.3670T= (p.Ser1224=) c.2959T= (p.Ser987=) | |
| X | g.153954531A>C | CA415118973 | HCFC1 | c.3868T>G (p.Ser1290Ala) c.3670T>G (p.Ser1224Ala) c.2959T>G (p.Ser987Ala) | dbSNP gnomAD v2 |
| X | g.153954531A>G | CA10557121 | HCFC1 | c.3868T>C (p.Ser1290Pro) c.3670T>C (p.Ser1224Pro) c.2959T>C (p.Ser987Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954531A>T | CA415118975 | HCFC1 | c.3868T>A (p.Ser1290Thr) c.3670T>A (p.Ser1224Thr) c.2959T>A (p.Ser987Thr) | |
| X | g.153954532G>A | CA415118977 | HCFC1 | c.3867C>T (p.Cys1289=) c.3669C>T (p.Cys1223=) c.2958C>T (p.Cys986=) | dbSNP gnomAD v4 |
| X | g.153954532G>C | CA10557122 | HCFC1 | c.3867C>G (p.Cys1289Trp) c.3669C>G (p.Cys1223Trp) c.2958C>G (p.Cys986Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954532G= | CA2466540171 | HCFC1 | c.3867C= (p.Cys1289=) c.3669C= (p.Cys1223=) c.2958C= (p.Cys986=) | |
| X | g.153954532G>T | CA415118980 | HCFC1 | c.3867C>A (p.Cys1289Ter) c.3669C>A (p.Cys1223Ter) c.2958C>A (p.Cys986Ter) | |
| X | g.153954533C>A | CA415118983 | HCFC1 | c.3866G>T (p.Cys1289Phe) c.3668G>T (p.Cys1223Phe) c.2957G>T (p.Cys986Phe) | |
| X | g.153954533C>G | CA415118986 | HCFC1 | c.3866G>C (p.Cys1289Ser) c.3668G>C (p.Cys1223Ser) c.2957G>C (p.Cys986Ser) | |
| X | g.153954533C>T | CA415118987 | HCFC1 | c.3866G>A (p.Cys1289Tyr) c.3668G>A (p.Cys1223Tyr) c.2957G>A (p.Cys986Tyr) | ClinVar dbSNP |
| X | g.153954534A>C | CA415118989 | HCFC1 | c.3865T>G (p.Cys1289Gly) c.3667T>G (p.Cys1223Gly) c.2956T>G (p.Cys986Gly) | |
| X | g.153954534A>G | CA415118994 | HCFC1 | c.3865T>C (p.Cys1289Arg) c.3667T>C (p.Cys1223Arg) c.2956T>C (p.Cys986Arg) | |
| X | g.153954534A>T | CA415118996 | HCFC1 | c.3865T>A (p.Cys1289Ser) c.3667T>A (p.Cys1223Ser) c.2956T>A (p.Cys986Ser) | gnomAD v4 |
| X | g.153954535G>A | CA10557123 | HCFC1 | c.3864C>T (p.Val1288=) c.3666C>T (p.Val1222=) c.2955C>T (p.Val985=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954535G>C | CA519702031 | HCFC1 | c.3864C>G (p.Val1288=) c.3666C>G (p.Val1222=) c.2955C>G (p.Val985=) | gnomAD v4 |
| X | g.153954535G= | CA2466540172 | HCFC1 | c.3864C= (p.Val1288=) c.3666C= (p.Val1222=) c.2955C= (p.Val985=) | |
| X | g.153954535G>T | CA519702032 | HCFC1 | c.3864C>A (p.Val1288=) c.3666C>A (p.Val1222=) c.2955C>A (p.Val985=) | |
| X | g.153954536A>C | CA415119002 | HCFC1 | c.3863T>G (p.Val1288Gly) c.3665T>G (p.Val1222Gly) c.2954T>G (p.Val985Gly) | |
| X | g.153954536A>G | CA415118999 | HCFC1 | c.3863T>C (p.Val1288Ala) c.3665T>C (p.Val1222Ala) c.2954T>C (p.Val985Ala) | |
| X | g.153954536A>T | CA415119001 | HCFC1 | c.3863T>A (p.Val1288Asp) c.3665T>A (p.Val1222Asp) c.2954T>A (p.Val985Asp) | |
| X | g.153954537C>A | CA415119006 | HCFC1 | c.3862G>T (p.Val1288Phe) c.3664G>T (p.Val1222Phe) c.2953G>T (p.Val985Phe) | |
| X | g.153954537C= | CA2466540173 | HCFC1 | c.3862G= (p.Val1288=) c.3664G= (p.Val1222=) c.2953G= (p.Val985=) | |
| X | g.153954537C>G | CA415119008 | HCFC1 | c.3862G>C (p.Val1288Leu) c.3664G>C (p.Val1222Leu) c.2953G>C (p.Val985Leu) | dbSNP gnomAD v4 |
| X | g.153954537C>T | CA415119010 | HCFC1 | c.3862G>A (p.Val1288Ile) c.3664G>A (p.Val1222Ile) c.2953G>A (p.Val985Ile) | |
| X | g.153954538T>A | CA415119012 | HCFC1 | c.3861A>T (p.Gln1287His) c.3663A>T (p.Gln1221His) c.2952A>T (p.Gln984His) | dbSNP gnomAD v4 |
| X | g.153954538T>C | CA519702035 | HCFC1 | c.3861A>G (p.Gln1287=) c.3663A>G (p.Gln1221=) c.2952A>G (p.Gln984=) | |
| X | g.153954538T>G | CA415119013 | HCFC1 | c.3861A>C (p.Gln1287His) c.3663A>C (p.Gln1221His) c.2952A>C (p.Gln984His) | |
| X | g.153954538T= | CA2466540174 | HCFC1 | c.3861A= (p.Gln1287=) c.3663A= (p.Gln1221=) c.2952A= (p.Gln984=) | |
| X | g.153954539T>A | CA415119016 | HCFC1 | c.3860A>T (p.Gln1287Leu) c.3662A>T (p.Gln1221Leu) c.2951A>T (p.Gln984Leu) | |
| X | g.153954539T>C | CA337252586 | HCFC1 | c.3860A>G (p.Gln1287Arg) c.3662A>G (p.Gln1221Arg) c.2951A>G (p.Gln984Arg) | dbSNP gnomAD v4 |
| X | g.153954539T>G | CA415119021 | HCFC1 | c.3860A>C (p.Gln1287Pro) c.3662A>C (p.Gln1221Pro) c.2951A>C (p.Gln984Pro) | |
| X | g.153954539T= | CA2466540175 | HCFC1 | c.3860A= (p.Gln1287=) c.3662A= (p.Gln1221=) c.2951A= (p.Gln984=) | |
| X | g.153954540G>A | CA415119024 | HCFC1 | c.3859C>T (p.Gln1287Ter) c.3661C>T (p.Gln1221Ter) c.2950C>T (p.Gln984Ter) | |
| X | g.153954540G>C | CA415119026 | HCFC1 | c.3859C>G (p.Gln1287Glu) c.3661C>G (p.Gln1221Glu) c.2950C>G (p.Gln984Glu) | |
| X | g.153954540G>T | CA415119029 | HCFC1 | c.3859C>A (p.Gln1287Lys) c.3661C>A (p.Gln1221Lys) c.2950C>A (p.Gln984Lys) | |
| X | g.153954540_153954546delinsGGGTCAC | CA2466540176 | HCFC1 | c.3853_3859delinsGTGACCC (p.Val1285=) c.3655_3661delinsGTGACCC (p.Val1219=) c.2944_2950delinsGTGACCC (p.Val982=) | |
| X | g.153954541G>A | CA519702039 | HCFC1 | c.3858C>T (p.Thr1286=) c.3660C>T (p.Thr1220=) c.2949C>T (p.Thr983=) | ClinVar dbSNP |
| X | g.153954541G>C | CA519702040 | HCFC1 | c.3858C>G (p.Thr1286=) c.3660C>G (p.Thr1220=) c.2949C>G (p.Thr983=) | gnomAD v4 |
| X | g.153954541G= | CA2466540178 | HCFC1 | c.3858C= (p.Thr1286=) c.3660C= (p.Thr1220=) c.2949C= (p.Thr983=) | |
| X | g.153954541G>T | CA519702041 | HCFC1 | c.3858C>A (p.Thr1286=) c.3660C>A (p.Thr1220=) c.2949C>A (p.Thr983=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |
| X | g.153954554G>C | CA415119089 | HCFC1 | c.3845C>G (p.Ser1282Trp) c.3647C>G (p.Ser1216Trp) c.2936C>G (p.Ser979Trp) | |
| X | g.153954554G= | CA2466540188 | HCFC1 | c.3845C= (p.Ser1282=) c.3647C= (p.Ser1216=) c.2936C= (p.Ser979=) | |
| X | g.153954554G>T | CA415119091 | HCFC1 | c.3845C>A (p.Ser1282Ter) c.3647C>A (p.Ser1216Ter) c.2936C>A (p.Ser979Ter) | |
| X | g.153954555A= | CA2466540189 | HCFC1 | c.3844T= (p.Ser1282=) c.3646T= (p.Ser1216=) c.2935T= (p.Ser979=) | |
| X | g.153954555A>C | CA415119098 | HCFC1 | c.3844T>G (p.Ser1282Ala) c.3646T>G (p.Ser1216Ala) c.2935T>G (p.Ser979Ala) | |
| X | g.153954555A>G | CA415119094 | HCFC1 | c.3844T>C (p.Ser1282Pro) c.3646T>C (p.Ser1216Pro) c.2935T>C (p.Ser979Pro) | |
| X | g.153954555A>T | CA415119096 | HCFC1 | c.3844T>A (p.Ser1282Thr) c.3646T>A (p.Ser1216Thr) c.2935T>A (p.Ser979Thr) | dbSNP |
| X | g.153954556G>A | CA519702083 | HCFC1 | c.3843C>T (p.Pro1281=) c.3645C>T (p.Pro1215=) c.2934C>T (p.Pro978=) | |
| X | g.153954556G>C | CA519702084 | HCFC1 | c.3843C>G (p.Pro1281=) c.3645C>G (p.Pro1215=) c.2934C>G (p.Pro978=) | |
| X | g.153954556G= | CA2466540190 | HCFC1 | c.3843C= (p.Pro1281=) c.3645C= (p.Pro1215=) c.2934C= (p.Pro978=) | |
| X | g.153954556G>T | CA519702085 | HCFC1 | c.3843C>A (p.Pro1281=) c.3645C>A (p.Pro1215=) c.2934C>A (p.Pro978=) | dbSNP |
| X | g.153954556_153954557insTT | CA645289624 | HCFC1 | c.3842_3843insAA (p.Ser1282ThrfsTer5) c.3644_3645insAA (p.Ser1216ThrfsTer5) c.2933_2934insAA (p.Ser979ThrfsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954557G>A | CA415119099 | HCFC1 | c.3842C>T (p.Pro1281Leu) c.3644C>T (p.Pro1215Leu) c.2933C>T (p.Pro978Leu) | |
| X | g.153954557G>C | CA415119103 | HCFC1 | c.3842C>G (p.Pro1281Arg) c.3644C>G (p.Pro1215Arg) c.2933C>G (p.Pro978Arg) | |
| X | g.153954557G>T | CA415119106 | HCFC1 | c.3842C>A (p.Pro1281His) c.3644C>A (p.Pro1215His) c.2933C>A (p.Pro978His) | |
| X | g.153954558G>A | CA415119109 | HCFC1 | c.3841C>T (p.Pro1281Ser) c.3643C>T (p.Pro1215Ser) c.2932C>T (p.Pro978Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954558G>C | CA415119111 | HCFC1 | c.3841C>G (p.Pro1281Ala) c.3643C>G (p.Pro1215Ala) c.2932C>G (p.Pro978Ala) | gnomAD v4 |
| X | g.153954558G= | CA2466540191 | HCFC1 | c.3841C= (p.Pro1281=) c.3643C= (p.Pro1215=) c.2932C= (p.Pro978=) | |
| X | g.153954558G>T | CA415119113 | HCFC1 | c.3841C>A (p.Pro1281Thr) c.3643C>A (p.Pro1215Thr) c.2932C>A (p.Pro978Thr) | |
| X | g.153954559G>A | CA519702094 | HCFC1 | c.3840C>T (p.Cys1280=) c.3642C>T (p.Cys1214=) c.2931C>T (p.Cys977=) | gnomAD v4 |
| X | g.153954559G>C | CA415119116 | HCFC1 | c.3840C>G (p.Cys1280Trp) c.3642C>G (p.Cys1214Trp) c.2931C>G (p.Cys977Trp) | gnomAD v4 |
| X | g.153954559G>T | CA415119118 | HCFC1 | c.3840C>A (p.Cys1280Ter) c.3642C>A (p.Cys1214Ter) c.2931C>A (p.Cys977Ter) | |
| X | g.153954560C>A | CA415119120 | HCFC1 | c.3839G>T (p.Cys1280Phe) c.3641G>T (p.Cys1214Phe) c.2930G>T (p.Cys977Phe) | |
| X | g.153954560C>G | CA415119121 | HCFC1 | c.3839G>C (p.Cys1280Ser) c.3641G>C (p.Cys1214Ser) c.2930G>C (p.Cys977Ser) | ClinVar |
| X | g.153954560C>T | CA415119123 | HCFC1 | c.3839G>A (p.Cys1280Tyr) c.3641G>A (p.Cys1214Tyr) c.2930G>A (p.Cys977Tyr) | |
| X | g.153954561A>C | CA415119127 | HCFC1 | c.3838T>G (p.Cys1280Gly) c.3640T>G (p.Cys1214Gly) c.2929T>G (p.Cys977Gly) | |
| X | g.153954561A>G | CA415119131 | HCFC1 | c.3838T>C (p.Cys1280Arg) c.3640T>C (p.Cys1214Arg) c.2929T>C (p.Cys977Arg) | |
| X | g.153954561A>T | CA415119130 | HCFC1 | c.3838T>A (p.Cys1280Ser) c.3640T>A (p.Cys1214Ser) c.2929T>A (p.Cys977Ser) | |
| X | g.153954561_153954568delinsACAGCAGT | CA2466540192 | HCFC1 | c.3831_3838delinsACTGCTGT (p.Ala1277=) c.3633_3640delinsACTGCTGT (p.Ala1211=) c.2922_2929delinsACTGCTGT (p.Ala974=) | |
| X | g.153954562C>A | CA519702102 | HCFC1 | c.3837G>T (p.Leu1279=) c.3639G>T (p.Leu1213=) c.2928G>T (p.Leu976=) | |
| X | g.153954562C= | CA2466540193 | HCFC1 | c.3837G= (p.Leu1279=) c.3639G= (p.Leu1213=) c.2928G= (p.Leu976=) | |
| X | g.153954562C>G | CA519702104 | HCFC1 | c.3837G>C (p.Leu1279=) c.3639G>C (p.Leu1213=) c.2928G>C (p.Leu976=) | |
| X | g.153954562C>T | CA337252631 | HCFC1 | c.3837G>A (p.Leu1279=) c.3639G>A (p.Leu1213=) c.2928G>A (p.Leu976=) | dbSNP gnomAD v4 |
| X | g.153954562_153954568del | CA645289625 | HCFC1 | c.3831_3837del (p.Leu1278AlafsTer6) c.3633_3639del (p.Leu1212AlafsTer6) c.2922_2928del (p.Leu975AlafsTer6) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954563A>C | CA415119134 | HCFC1 | c.3836T>G (p.Leu1279Arg) c.3638T>G (p.Leu1213Arg) c.2927T>G (p.Leu976Arg) | |
| X | g.153954563A>G | CA415119137 | HCFC1 | c.3836T>C (p.Leu1279Pro) c.3638T>C (p.Leu1213Pro) c.2927T>C (p.Leu976Pro) | |
| X | g.153954563A>T | CA415119139 | HCFC1 | c.3836T>A (p.Leu1279Gln) c.3638T>A (p.Leu1213Gln) c.2927T>A (p.Leu976Gln) | |
| X | g.153954564G>A | CA519702109 | HCFC1 | c.3835C>T (p.Leu1279=) c.3637C>T (p.Leu1213=) c.2926C>T (p.Leu976=) | |
| X | g.153954564G>C | CA415119142 | HCFC1 | c.3835C>G (p.Leu1279Val) c.3637C>G (p.Leu1213Val) c.2926C>G (p.Leu976Val) | |
| X | g.153954564G>T | CA415119144 | HCFC1 | c.3835C>A (p.Leu1279Met) c.3637C>A (p.Leu1213Met) c.2926C>A (p.Leu976Met) | |
| X | g.153954565C>A | CA519702117 | HCFC1 | c.3834G>T (p.Leu1278=) c.3636G>T (p.Leu1212=) c.2925G>T (p.Leu975=) | |
| X | g.153954565C= | CA2466540194 | HCFC1 | c.3834G= (p.Leu1278=) c.3636G= (p.Leu1212=) c.2925G= (p.Leu975=) | |
| X | g.153954565C>G | CA519702115 | HCFC1 | c.3834G>C (p.Leu1278=) c.3636G>C (p.Leu1212=) c.2925G>C (p.Leu975=) | gnomAD v4 |
| X | g.153954565C>T | CA519702113 | HCFC1 | c.3834G>A (p.Leu1278=) c.3636G>A (p.Leu1212=) c.2925G>A (p.Leu975=) | ClinVar dbSNP |
| X | g.153954566A>C | CA415119147 | HCFC1 | c.3833T>G (p.Leu1278Arg) c.3635T>G (p.Leu1212Arg) c.2924T>G (p.Leu975Arg) | |
| X | g.153954566A>G | CA415119148 | HCFC1 | c.3833T>C (p.Leu1278Pro) c.3635T>C (p.Leu1212Pro) c.2924T>C (p.Leu975Pro) | |
| X | g.153954566A>T | CA415119151 | HCFC1 | c.3833T>A (p.Leu1278Gln) c.3635T>A (p.Leu1212Gln) c.2924T>A (p.Leu975Gln) | |
| X | g.153954567G>A | CA519702121 | HCFC1 | c.3832C>T (p.Leu1278=) c.3634C>T (p.Leu1212=) c.2923C>T (p.Leu975=) | |
| X | g.153954567G>C | CA415119158 | HCFC1 | c.3832C>G (p.Leu1278Val) c.3634C>G (p.Leu1212Val) c.2923C>G (p.Leu975Val) | |
| X | g.153954567G>T | CA415119161 | HCFC1 | c.3832C>A (p.Leu1278Met) c.3634C>A (p.Leu1212Met) c.2923C>A (p.Leu975Met) | |
| X | g.153954568T>A | CA519702125 | HCFC1 | c.3831A>T (p.Ala1277=) c.3633A>T (p.Ala1211=) c.2922A>T (p.Ala974=) | |
| X | g.153954568T>C | CA519702127 | HCFC1 | c.3831A>G (p.Ala1277=) c.3633A>G (p.Ala1211=) c.2922A>G (p.Ala974=) | |
| X | g.153954568T>G | CA519702129 | HCFC1 | c.3831A>C (p.Ala1277=) c.3633A>C (p.Ala1211=) c.2922A>C (p.Ala974=) | |
| X | g.153954569G>A | CA415119164 | HCFC1 | c.3830C>T (p.Ala1277Val) c.3632C>T (p.Ala1211Val) c.2921C>T (p.Ala974Val) | |
| X | g.153954569G>C | CA415119163 | HCFC1 | c.3830C>G (p.Ala1277Gly) c.3632C>G (p.Ala1211Gly) c.2921C>G (p.Ala974Gly) | |
| X | g.153954569G>T | CA415119162 | HCFC1 | c.3830C>A (p.Ala1277Glu) c.3632C>A (p.Ala1211Glu) c.2921C>A (p.Ala974Glu) | |
| X | g.153954570C>A | CA415119166 | HCFC1 | c.3829G>T (p.Ala1277Ser) c.3631G>T (p.Ala1211Ser) c.2920G>T (p.Ala974Ser) | dbSNP gnomAD v4 |
| X | g.153954570C= | CA2466540195 | HCFC1 | c.3829G= (p.Ala1277=) c.3631G= (p.Ala1211=) c.2920G= (p.Ala974=) | |
| X | g.153954570C>G | CA415119170 | HCFC1 | c.3829G>C (p.Ala1277Pro) c.3631G>C (p.Ala1211Pro) c.2920G>C (p.Ala974Pro) | |
| X | g.153954570C>T | CA415119171 | HCFC1 | c.3829G>A (p.Ala1277Thr) c.3631G>A (p.Ala1211Thr) c.2920G>A (p.Ala974Thr) | ClinVar dbSNP |
| X | g.153954571C>A | CA415119175 | HCFC1 | c.3828G>T (p.Glu1276Asp) c.3630G>T (p.Glu1210Asp) c.2919G>T (p.Glu973Asp) | |
| X | g.153954571C>G | CA415119176 | HCFC1 | c.3828G>C (p.Glu1276Asp) c.3630G>C (p.Glu1210Asp) c.2919G>C (p.Glu973Asp) | |
| X | g.153954571C>T | CA519702139 | HCFC1 | c.3828G>A (p.Glu1276=) c.3630G>A (p.Glu1210=) c.2919G>A (p.Glu973=) | |
| X | g.153954572T>A | CA415119179 | HCFC1 | c.3827A>T (p.Glu1276Val) c.3629A>T (p.Glu1210Val) c.2918A>T (p.Glu973Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954572T>C | CA415119181 | HCFC1 | c.3827A>G (p.Glu1276Gly) c.3629A>G (p.Glu1210Gly) c.2918A>G (p.Glu973Gly) | |
| X | g.153954572T>G | CA415119185 | HCFC1 | c.3827A>C (p.Glu1276Ala) c.3629A>C (p.Glu1210Ala) c.2918A>C (p.Glu973Ala) | |
| X | g.153954572T= | CA2466540196 | HCFC1 | c.3827A= (p.Glu1276=) c.3629A= (p.Glu1210=) c.2918A= (p.Glu973=) | |
| X | g.153954573C>A | CA415119187 | HCFC1 | c.3826G>T (p.Glu1276Ter) c.3628G>T (p.Glu1210Ter) c.2917G>T (p.Glu973Ter) | |
| X | g.153954573C>G | CA415119189 | HCFC1 | c.3826G>C (p.Glu1276Gln) c.3628G>C (p.Glu1210Gln) c.2917G>C (p.Glu973Gln) | |
| X | g.153954573C>T | CA415119192 | HCFC1 | c.3826G>A (p.Glu1276Lys) c.3628G>A (p.Glu1210Lys) c.2917G>A (p.Glu973Lys) | COSMIC COSMIC |
| X | g.153954574C>A | CA519702145 | HCFC1 | c.3825G>T (p.Leu1275=) c.3627G>T (p.Leu1209=) c.2916G>T (p.Leu972=) | |
| X | g.153954574C= | CA2466540197 | HCFC1 | c.3825G= (p.Leu1275=) c.3627G= (p.Leu1209=) c.2916G= (p.Leu972=) | |
| X | g.153954574C>G | CA519702147 | HCFC1 | c.3825G>C (p.Leu1275=) c.3627G>C (p.Leu1209=) c.2916G>C (p.Leu972=) | dbSNP gnomAD v4 |
| X | g.153954574C>T | CA519702148 | HCFC1 | c.3825G>A (p.Leu1275=) c.3627G>A (p.Leu1209=) c.2916G>A (p.Leu972=) | |
| X | g.153954575A>C | CA415119195 | HCFC1 | c.3824T>G (p.Leu1275Arg) c.3626T>G (p.Leu1209Arg) c.2915T>G (p.Leu972Arg) | |
| X | g.153954575A>G | CA415119201 | HCFC1 | c.3824T>C (p.Leu1275Pro) c.3626T>C (p.Leu1209Pro) c.2915T>C (p.Leu972Pro) | gnomAD v4 |
| X | g.153954575A>T | CA415119197 | HCFC1 | c.3824T>A (p.Leu1275Gln) c.3626T>A (p.Leu1209Gln) c.2915T>A (p.Leu972Gln) | |
| X | g.153954576G>A | CA519702152 | HCFC1 | c.3823C>T (p.Leu1275=) c.3625C>T (p.Leu1209=) c.2914C>T (p.Leu972=) | |
| X | g.153954576G>C | CA415119203 | HCFC1 | c.3823C>G (p.Leu1275Val) c.3625C>G (p.Leu1209Val) c.2914C>G (p.Leu972Val) | |
| X | g.153954576G>T | CA415119206 | HCFC1 | c.3823C>A (p.Leu1275Met) c.3625C>A (p.Leu1209Met) c.2914C>A (p.Leu972Met) | |
| X | g.153954577G>A | CA519702156 | HCFC1 | c.3822C>T (p.Ala1274=) c.3624C>T (p.Ala1208=) c.2913C>T (p.Ala971=) | gnomAD v4 |
| X | g.153954577G>C | CA519702157 | HCFC1 | c.3822C>G (p.Ala1274=) c.3624C>G (p.Ala1208=) c.2913C>G (p.Ala971=) | |
| X | g.153954577G>T | CA519702158 | HCFC1 | c.3822C>A (p.Ala1274=) c.3624C>A (p.Ala1208=) c.2913C>A (p.Ala971=) | |
| X | g.153954578G>A | CA415119209 | HCFC1 | c.3821C>T (p.Ala1274Val) c.3623C>T (p.Ala1208Val) c.2912C>T (p.Ala971Val) | |
| X | g.153954578G>C | CA415119211 | HCFC1 | c.3821C>G (p.Ala1274Gly) c.3623C>G (p.Ala1208Gly) c.2912C>G (p.Ala971Gly) | |
| X | g.153954578G>T | CA415119213 | HCFC1 | c.3821C>A (p.Ala1274Asp) c.3623C>A (p.Ala1208Asp) c.2912C>A (p.Ala971Asp) | |
| X | g.153954579C>A | CA415119222 | HCFC1 | c.3820G>T (p.Ala1274Ser) c.3622G>T (p.Ala1208Ser) c.2911G>T (p.Ala971Ser) | |
| X | g.153954579C>G | CA415119220 | HCFC1 | c.3820G>C (p.Ala1274Pro) c.3622G>C (p.Ala1208Pro) c.2911G>C (p.Ala971Pro) | |
| X | g.153954579C>T | CA415119217 | HCFC1 | c.3820G>A (p.Ala1274Thr) c.3622G>A (p.Ala1208Thr) c.2911G>A (p.Ala971Thr) | |
| X | g.153954580T>A | CA519702165 | HCFC1 | c.3819A>T (p.Thr1273=) c.3621A>T (p.Thr1207=) c.2910A>T (p.Thr970=) | |
| X | g.153954580T>C | CA519702166 | HCFC1 | c.3819A>G (p.Thr1273=) c.3621A>G (p.Thr1207=) c.2910A>G (p.Thr970=) | |
| X | g.153954580T>G | CA519702164 | HCFC1 | c.3819A>C (p.Thr1273=) c.3621A>C (p.Thr1207=) c.2910A>C (p.Thr970=) | |
| X | g.153954581G>A | CA415119224 | HCFC1 | c.3818C>T (p.Thr1273Ile) c.3620C>T (p.Thr1207Ile) c.2909C>T (p.Thr970Ile) | gnomAD v4 |
| X | g.153954581G>C | CA415119226 | HCFC1 | c.3818C>G (p.Thr1273Arg) c.3620C>G (p.Thr1207Arg) c.2909C>G (p.Thr970Arg) | |
| X | g.153954581G>T | CA415119229 | HCFC1 | c.3818C>A (p.Thr1273Lys) c.3620C>A (p.Thr1207Lys) c.2909C>A (p.Thr970Lys) | |
| X | g.153954582T>A | CA415119230 | HCFC1 | c.3817A>T (p.Thr1273Ser) c.3619A>T (p.Thr1207Ser) c.2908A>T (p.Thr970Ser) | |
| X | g.153954582T>C | CA415119232 | HCFC1 | c.3817A>G (p.Thr1273Ala) c.3619A>G (p.Thr1207Ala) c.2908A>G (p.Thr970Ala) | |
| X | g.153954582T>G | CA415119235 | HCFC1 | c.3817A>C (p.Thr1273Pro) c.3619A>C (p.Thr1207Pro) c.2908A>C (p.Thr970Pro) | |
| X | g.153954583C>A | CA519702171 | HCFC1 | c.3816G>T (p.Val1272=) c.3618G>T (p.Val1206=) c.2907G>T (p.Val969=) | |
| X | g.153954583C>G | CA519702172 | HCFC1 | c.3816G>C (p.Val1272=) c.3618G>C (p.Val1206=) c.2907G>C (p.Val969=) | |
| X | g.153954583C>T | CA519702173 | HCFC1 | c.3816G>A (p.Val1272=) c.3618G>A (p.Val1206=) c.2907G>A (p.Val969=) | gnomAD v4 COSMIC COSMIC |
| X | g.153954584A>C | CA415119242 | HCFC1 | c.3815T>G (p.Val1272Gly) c.3617T>G (p.Val1206Gly) c.2906T>G (p.Val969Gly) | |
| X | g.153954584A>G | CA415119238 | HCFC1 | c.3815T>C (p.Val1272Ala) c.3617T>C (p.Val1206Ala) c.2906T>C (p.Val969Ala) | |
| X | g.153954584A>T | CA415119239 | HCFC1 | c.3815T>A (p.Val1272Glu) c.3617T>A (p.Val1206Glu) c.2906T>A (p.Val969Glu) | |
| X | g.153954585C>A | CA415119244 | HCFC1 | c.3814G>T (p.Val1272Leu) c.3616G>T (p.Val1206Leu) c.2905G>T (p.Val969Leu) | COSMIC COSMIC |
| X | g.153954585C>G | CA415119247 | HCFC1 | c.3814G>C (p.Val1272Leu) c.3616G>C (p.Val1206Leu) c.2905G>C (p.Val969Leu) | |
| X | g.153954585C>T | CA415119249 | HCFC1 | c.3814G>A (p.Val1272Met) c.3616G>A (p.Val1206Met) c.2905G>A (p.Val969Met) | |
| X | g.153954586A>C | CA519702180 | HCFC1 | c.3813T>G (p.Thr1271=) c.3615T>G (p.Thr1205=) c.2904T>G (p.Thr968=) | |
| X | g.153954586A>G | CA519702181 | HCFC1 | c.3813T>C (p.Thr1271=) c.3615T>C (p.Thr1205=) c.2904T>C (p.Thr968=) | |
| X | g.153954586A>T | CA519702182 | HCFC1 | c.3813T>A (p.Thr1271=) c.3615T>A (p.Thr1205=) c.2904T>A (p.Thr968=) | |
| X | g.153954587G>A | CA415119253 | HCFC1 | c.3812C>T (p.Thr1271Ile) c.3614C>T (p.Thr1205Ile) c.2903C>T (p.Thr968Ile) | ClinVar dbSNP |
| X | g.153954587G>C | CA415119255 | HCFC1 | c.3812C>G (p.Thr1271Ser) c.3614C>G (p.Thr1205Ser) c.2903C>G (p.Thr968Ser) | |
| X | g.153954587G= | CA2466540198 | HCFC1 | c.3812C= (p.Thr1271=) c.3614C= (p.Thr1205=) c.2903C= (p.Thr968=) | |
| X | g.153954587G>T | CA415119259 | HCFC1 | c.3812C>A (p.Thr1271Asn) c.3614C>A (p.Thr1205Asn) c.2903C>A (p.Thr968Asn) | gnomAD v4 |
| X | g.153954589_153954594del | CA2580101725 | HCFC1 | c.3807_3812del (p.Val1270_Thr1271del) c.3609_3614del (p.Val1204_Thr1205del) c.2898_2903del (p.Val967_Thr968del) | ClinVar |
| X | g.153954588T>A | CA415119261 | HCFC1 | c.3811A>T (p.Thr1271Ser) c.3613A>T (p.Thr1205Ser) c.2902A>T (p.Thr968Ser) | |
| X | g.153954588T>C | CA415119263 | HCFC1 | c.3811A>G (p.Thr1271Ala) c.3613A>G (p.Thr1205Ala) c.2902A>G (p.Thr968Ala) | ClinVar |
| X | g.153954588T>G | CA415119266 | HCFC1 | c.3811A>C (p.Thr1271Pro) c.3613A>C (p.Thr1205Pro) c.2902A>C (p.Thr968Pro) | |
| X | g.153954589C>A | CA519702187 | HCFC1 | c.3810G>T (p.Val1270=) c.3612G>T (p.Val1204=) c.2901G>T (p.Val967=) | |
| X | g.153954589C>G | CA519702188 | HCFC1 | c.3810G>C (p.Val1270=) c.3612G>C (p.Val1204=) c.2901G>C (p.Val967=) | |
| X | g.153954589C>T | CA519702189 | HCFC1 | c.3810G>A (p.Val1270=) c.3612G>A (p.Val1204=) c.2901G>A (p.Val967=) | |
| X | g.153954590A>C | CA415119270 | HCFC1 | c.3809T>G (p.Val1270Gly) c.3611T>G (p.Val1204Gly) c.2900T>G (p.Val967Gly) | |
| X | g.153954590A>G | CA415119271 | HCFC1 | c.3809T>C (p.Val1270Ala) c.3611T>C (p.Val1204Ala) c.2900T>C (p.Val967Ala) | gnomAD v4 |
| X | g.153954590A>T | CA415119274 | HCFC1 | c.3809T>A (p.Val1270Glu) c.3611T>A (p.Val1204Glu) c.2900T>A (p.Val967Glu) | |
| X | g.153954591C>A | CA415119280 | HCFC1 | c.3808G>T (p.Val1270Leu) c.3610G>T (p.Val1204Leu) c.2899G>T (p.Val967Leu) | |
| X | g.153954591C>G | CA415119278 | HCFC1 | c.3808G>C (p.Val1270Leu) c.3610G>C (p.Val1204Leu) c.2899G>C (p.Val967Leu) | |
| X | g.153954591C>T | CA415119279 | HCFC1 | c.3808G>A (p.Val1270Met) c.3610G>A (p.Val1204Met) c.2899G>A (p.Val967Met) | |
| X | g.153954592T>A | CA519702196 | HCFC1 | c.3807A>T (p.Thr1269=) c.3609A>T (p.Thr1203=) c.2898A>T (p.Thr966=) | |
| X | g.153954592T>C | CA519702198 | HCFC1 | c.3807A>G (p.Thr1269=) c.3609A>G (p.Thr1203=) c.2898A>G (p.Thr966=) | |
| X | g.153954592T>G | CA519702199 | HCFC1 | c.3807A>C (p.Thr1269=) c.3609A>C (p.Thr1203=) c.2898A>C (p.Thr966=) | |
| X | g.153954593G>A | CA415119283 | HCFC1 | c.3806C>T (p.Thr1269Ile) c.3608C>T (p.Thr1203Ile) c.2897C>T (p.Thr966Ile) | gnomAD v4 |
| X | g.153954593G>C | CA415119286 | HCFC1 | c.3806C>G (p.Thr1269Arg) c.3608C>G (p.Thr1203Arg) c.2897C>G (p.Thr966Arg) | |
| X | g.153954593G>T | CA415119288 | HCFC1 | c.3806C>A (p.Thr1269Lys) c.3608C>A (p.Thr1203Lys) c.2897C>A (p.Thr966Lys) | |
| X | g.153954594T>A | CA415119290 | HCFC1 | c.3805A>T (p.Thr1269Ser) c.3607A>T (p.Thr1203Ser) c.2896A>T (p.Thr966Ser) | |
| X | g.153954594T>C | CA337252635 | HCFC1 | c.3805A>G (p.Thr1269Ala) c.3607A>G (p.Thr1203Ala) c.2896A>G (p.Thr966Ala) | dbSNP |
| X | g.153954594T>G | CA415119293 | HCFC1 | c.3805A>C (p.Thr1269Pro) c.3607A>C (p.Thr1203Pro) c.2896A>C (p.Thr966Pro) | |
| X | g.153954594T= | CA2466540199 | HCFC1 | c.3805A= (p.Thr1269=) c.3607A= (p.Thr1203=) c.2896A= (p.Thr966=) | |
| X | g.153954595G>A | CA519702206 | HCFC1 | c.3804C>T (p.Thr1268=) c.3606C>T (p.Thr1202=) c.2895C>T (p.Thr965=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954595G>C | CA519702210 | HCFC1 | c.3804C>G (p.Thr1268=) c.3606C>G (p.Thr1202=) c.2895C>G (p.Thr965=) | |
| X | g.153954595G= | CA2466540200 | HCFC1 | c.3804C= (p.Thr1268=) c.3606C= (p.Thr1202=) c.2895C= (p.Thr965=) | |
| X | g.153954595G>T | CA519702211 | HCFC1 | c.3804C>A (p.Thr1268=) c.3606C>A (p.Thr1202=) c.2895C>A (p.Thr965=) | |
| X | g.153954596G>A | CA415119300 | HCFC1 | c.3803C>T (p.Thr1268Ile) c.3605C>T (p.Thr1202Ile) c.2894C>T (p.Thr965Ile) | |
| X | g.153954596G>C | CA415119297 | HCFC1 | c.3803C>G (p.Thr1268Ser) c.3605C>G (p.Thr1202Ser) c.2894C>G (p.Thr965Ser) | |
| X | g.153954596G>T | CA415119298 | HCFC1 | c.3803C>A (p.Thr1268Asn) c.3605C>A (p.Thr1202Asn) c.2894C>A (p.Thr965Asn) | |
| X | g.153954597T>A | CA415119303 | HCFC1 | c.3802A>T (p.Thr1268Ser) c.3604A>T (p.Thr1202Ser) c.2893A>T (p.Thr965Ser) | |
| X | g.153954597T>C | CA415119305 | HCFC1 | c.3802A>G (p.Thr1268Ala) c.3604A>G (p.Thr1202Ala) c.2893A>G (p.Thr965Ala) | |
| X | g.153954597T>G | CA415119307 | HCFC1 | c.3802A>C (p.Thr1268Pro) c.3604A>C (p.Thr1202Pro) c.2893A>C (p.Thr965Pro) | |
| X | g.153954598G>A | CA519702218 | HCFC1 | c.3801C>T (p.Ser1267=) c.3603C>T (p.Ser1201=) c.2892C>T (p.Ser964=) | |
| X | g.153954598G>C | CA415119308 | HCFC1 | c.3801C>G (p.Ser1267Arg) c.3603C>G (p.Ser1201Arg) c.2892C>G (p.Ser964Arg) | |
| X | g.153954598G>T | CA415119309 | HCFC1 | c.3801C>A (p.Ser1267Arg) c.3603C>A (p.Ser1201Arg) c.2892C>A (p.Ser964Arg) | |
| X | g.153954599C>A | CA415119312 | HCFC1 | c.3800G>T (p.Ser1267Ile) c.3602G>T (p.Ser1201Ile) c.2891G>T (p.Ser964Ile) | gnomAD v4 |
| X | g.153954599C>G | CA415119316 | HCFC1 | c.3800G>C (p.Ser1267Thr) c.3602G>C (p.Ser1201Thr) c.2891G>C (p.Ser964Thr) | |
| X | g.153954599C>T | CA415119315 | HCFC1 | c.3800G>A (p.Ser1267Asn) c.3602G>A (p.Ser1201Asn) c.2891G>A (p.Ser964Asn) | gnomAD v4 |
| X | g.153954600T>A | CA415119319 | HCFC1 | c.3799A>T (p.Ser1267Cys) c.3601A>T (p.Ser1201Cys) c.2890A>T (p.Ser964Cys) | |
| X | g.153954600T>C | CA415119322 | HCFC1 | c.3799A>G (p.Ser1267Gly) c.3601A>G (p.Ser1201Gly) c.2890A>G (p.Ser964Gly) | gnomAD v4 |
| X | g.153954600T>G | CA415119324 | HCFC1 | c.3799A>C (p.Ser1267Arg) c.3601A>C (p.Ser1201Arg) c.2890A>C (p.Ser964Arg) | |
| X | g.153954601G>A | CA519702224 | HCFC1 | c.3798C>T (p.Pro1266=) c.3600C>T (p.Pro1200=) c.2889C>T (p.Pro963=) | ClinVar gnomAD v4 |
| X | g.153954601G>C | CA519702227 | HCFC1 | c.3798C>G (p.Pro1266=) c.3600C>G (p.Pro1200=) c.2889C>G (p.Pro963=) | |
| X | g.153954601G>T | CA519702229 | HCFC1 | c.3798C>A (p.Pro1266=) c.3600C>A (p.Pro1200=) c.2889C>A (p.Pro963=) | |
| X | g.153954603del | CA2579735260 | HCFC1 | c.3798del (p.Ser1267AlafsTer4) c.3600del (p.Ser1201AlafsTer4) c.2889del (p.Ser964AlafsTer4) | |
| X | g.153954602G>A | CA415119326 | HCFC1 | c.3797C>T (p.Pro1266Leu) c.3599C>T (p.Pro1200Leu) c.2888C>T (p.Pro963Leu) | |
| X | g.153954602G>C | CA415119327 | HCFC1 | c.3797C>G (p.Pro1266Arg) c.3599C>G (p.Pro1200Arg) c.2888C>G (p.Pro963Arg) | dbSNP |
| X | g.153954602G= | CA2466540201 | HCFC1 | c.3797C= (p.Pro1266=) c.3599C= (p.Pro1200=) c.2888C= (p.Pro963=) | |
| X | g.153954602G>T | CA415119330 | HCFC1 | c.3797C>A (p.Pro1266His) c.3599C>A (p.Pro1200His) c.2888C>A (p.Pro963His) | |
| X | g.153954603G>A | CA415119337 | HCFC1 | c.3796C>T (p.Pro1266Ser) c.3598C>T (p.Pro1200Ser) c.2887C>T (p.Pro963Ser) | gnomAD v4 |
| X | g.153954603G>C | CA415119338 | HCFC1 | c.3796C>G (p.Pro1266Ala) c.3598C>G (p.Pro1200Ala) c.2887C>G (p.Pro963Ala) | |
| X | g.153954603G>T | CA415119339 | HCFC1 | c.3796C>A (p.Pro1266Thr) c.3598C>A (p.Pro1200Thr) c.2887C>A (p.Pro963Thr) | |
| X | g.153954604C>A | CA519702231 | HCFC1 | c.3795G>T (p.Ser1265=) c.3597G>T (p.Ser1199=) c.2886G>T (p.Ser962=) | |
| X | g.153954604C= | CA2466540202 | HCFC1 | c.3795G= (p.Ser1265=) c.3597G= (p.Ser1199=) c.2886G= (p.Ser962=) | |
| X | g.153954604C>G | CA519702232 | HCFC1 | c.3795G>C (p.Ser1265=) c.3597G>C (p.Ser1199=) c.2886G>C (p.Ser962=) | |
| X | g.153954604C>T | CA10557128 | HCFC1 | c.3795G>A (p.Ser1265=) c.3597G>A (p.Ser1199=) c.2886G>A (p.Ser962=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153954605G>A | CA10557129 | HCFC1 | c.3794C>T (p.Ser1265Leu) c.3596C>T (p.Ser1199Leu) c.2885C>T (p.Ser962Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954605G>C | CA415119348 | HCFC1 | c.3794C>G (p.Ser1265Trp) c.3596C>G (p.Ser1199Trp) c.2885C>G (p.Ser962Trp) | |
| X | g.153954605G= | CA2466540203 | HCFC1 | c.3794C= (p.Ser1265=) c.3596C= (p.Ser1199=) c.2885C= (p.Ser962=) | |
| X | g.153954605G>T | CA415119345 | HCFC1 | c.3794C>A (p.Ser1265Ter) c.3596C>A (p.Ser1199Ter) c.2885C>A (p.Ser962Ter) | |
| X | g.153954606A>C | CA415119350 | HCFC1 | c.3793T>G (p.Ser1265Ala) c.3595T>G (p.Ser1199Ala) c.2884T>G (p.Ser962Ala) | |
| X | g.153954606A>G | CA415119354 | HCFC1 | c.3793T>C (p.Ser1265Pro) c.3595T>C (p.Ser1199Pro) c.2884T>C (p.Ser962Pro) | |
| X | g.153954606A>T | CA415119352 | HCFC1 | c.3793T>A (p.Ser1265Thr) c.3595T>A (p.Ser1199Thr) c.2884T>A (p.Ser962Thr) | |
| X | g.153954607G>A | CA519702243 | HCFC1 | c.3792C>T (p.Gly1264=) c.3594C>T (p.Gly1198=) c.2883C>T (p.Gly961=) | ClinVar gnomAD v4 |
| X | g.153954607G>C | CA519702242 | HCFC1 | c.3792C>G (p.Gly1264=) c.3594C>G (p.Gly1198=) c.2883C>G (p.Gly961=) | |
| X | g.153954607G>T | CA519702238 | HCFC1 | c.3792C>A (p.Gly1264=) c.3594C>A (p.Gly1198=) c.2883C>A (p.Gly961=) | |
| X | g.153954608C>A | CA415119356 | HCFC1 | c.3791G>T (p.Gly1264Val) c.3593G>T (p.Gly1198Val) c.2882G>T (p.Gly961Val) | |
| X | g.153954608C= | CA2466540204 | HCFC1 | c.3791G= (p.Gly1264=) c.3593G= (p.Gly1198=) c.2882G= (p.Gly961=) | |
| X | g.153954608C>G | CA415119359 | HCFC1 | c.3791G>C (p.Gly1264Ala) c.3593G>C (p.Gly1198Ala) c.2882G>C (p.Gly961Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954608C>T | CA415119361 | HCFC1 | c.3791G>A (p.Gly1264Asp) c.3593G>A (p.Gly1198Asp) c.2882G>A (p.Gly961Asp) | |
| X | g.153954609C>A | CA415119364 | HCFC1 | c.3790G>T (p.Gly1264Cys) c.3592G>T (p.Gly1198Cys) c.2881G>T (p.Gly961Cys) | |
| X | g.153954609C>G | CA415119366 | HCFC1 | c.3790G>C (p.Gly1264Arg) c.3592G>C (p.Gly1198Arg) c.2881G>C (p.Gly961Arg) | |
| X | g.153954609C>T | CA415119369 | HCFC1 | c.3790G>A (p.Gly1264Ser) c.3592G>A (p.Gly1198Ser) c.2881G>A (p.Gly961Ser) | |
| X | g.153954610A>C | CA519702246 | HCFC1 | c.3789T>G (p.Gly1263=) c.3591T>G (p.Gly1197=) c.2880T>G (p.Gly960=) | |
| X | g.153954610A>G | CA519702247 | HCFC1 | c.3789T>C (p.Gly1263=) c.3591T>C (p.Gly1197=) c.2880T>C (p.Gly960=) | |
| X | g.153954610A>T | CA519702248 | HCFC1 | c.3789T>A (p.Gly1263=) c.3591T>A (p.Gly1197=) c.2880T>A (p.Gly960=) | |
| X | g.153954611C>A | CA415119371 | HCFC1 | c.3788G>T (p.Gly1263Val) c.3590G>T (p.Gly1197Val) c.2879G>T (p.Gly960Val) | |
| X | g.153954611C>G | CA415119372 | HCFC1 | c.3788G>C (p.Gly1263Ala) c.3590G>C (p.Gly1197Ala) c.2879G>C (p.Gly960Ala) | |
| X | g.153954611C>T | CA415119374 | HCFC1 | c.3788G>A (p.Gly1263Asp) c.3590G>A (p.Gly1197Asp) c.2879G>A (p.Gly960Asp) | |
| X | g.153954613del | CA2579735261 | HCFC1 | c.3788del (p.Gly1263ValfsTer8) c.3590del (p.Gly1197ValfsTer8) c.2879del (p.Gly960ValfsTer8) | |
| X | g.153954612C>A | CA415119381 | HCFC1 | c.3787G>T (p.Gly1263Cys) c.3589G>T (p.Gly1197Cys) c.2878G>T (p.Gly960Cys) | gnomAD v4 |
| X | g.153954612C>G | CA415119380 | HCFC1 | c.3787G>C (p.Gly1263Arg) c.3589G>C (p.Gly1197Arg) c.2878G>C (p.Gly960Arg) | |
| X | g.153954612C>T | CA415119377 | HCFC1 | c.3787G>A (p.Gly1263Ser) c.3589G>A (p.Gly1197Ser) c.2878G>A (p.Gly960Ser) | |
| X | g.153954613C>A | CA415119383 | HCFC1 | c.3786G>T (p.Gln1262His) c.3588G>T (p.Gln1196His) c.2877G>T (p.Gln959His) | |
| X | g.153954613C>G | CA415119386 | HCFC1 | c.3786G>C (p.Gln1262His) c.3588G>C (p.Gln1196His) c.2877G>C (p.Gln959His) | |
| X | g.153954613C>T | CA519702253 | HCFC1 | c.3786G>A (p.Gln1262=) c.3588G>A (p.Gln1196=) c.2877G>A (p.Gln959=) | |
| X | g.153954614T>A | CA415119389 | HCFC1 | c.3785A>T (p.Gln1262Leu) c.3587A>T (p.Gln1196Leu) c.2876A>T (p.Gln959Leu) | gnomAD v4 |
| X | g.153954614T>C | CA415119391 | HCFC1 | c.3785A>G (p.Gln1262Arg) c.3587A>G (p.Gln1196Arg) c.2876A>G (p.Gln959Arg) | |
| X | g.153954614T>G | CA415119393 | HCFC1 | c.3785A>C (p.Gln1262Pro) c.3587A>C (p.Gln1196Pro) c.2876A>C (p.Gln959Pro) | |
| X | g.153954615G>A | CA415119395 | HCFC1 | c.3784C>T (p.Gln1262Ter) c.3586C>T (p.Gln1196Ter) c.2875C>T (p.Gln959Ter) | |
| X | g.153954615G>C | CA415119397 | HCFC1 | c.3784C>G (p.Gln1262Glu) c.3586C>G (p.Gln1196Glu) c.2875C>G (p.Gln959Glu) | |
| X | g.153954615G>T | CA415119400 | HCFC1 | c.3784C>A (p.Gln1262Lys) c.3586C>A (p.Gln1196Lys) c.2875C>A (p.Gln959Lys) | |
| X | g.153954616G>A | CA519702265 | HCFC1 | c.3783C>T (p.Leu1261=) c.3585C>T (p.Leu1195=) c.2874C>T (p.Leu958=) | ClinVar |
| X | g.153954616G>C | CA519702266 | HCFC1 | c.3783C>G (p.Leu1261=) c.3585C>G (p.Leu1195=) c.2874C>G (p.Leu958=) | |
| X | g.153954616G>T | CA519702267 | HCFC1 | c.3783C>A (p.Leu1261=) c.3585C>A (p.Leu1195=) c.2874C>A (p.Leu958=) | |
| X | g.153954617A>C | CA415119403 | HCFC1 | c.3782T>G (p.Leu1261Arg) c.3584T>G (p.Leu1195Arg) c.2873T>G (p.Leu958Arg) | |
| X | g.153954617A>G | CA415119405 | HCFC1 | c.3782T>C (p.Leu1261Pro) c.3584T>C (p.Leu1195Pro) c.2873T>C (p.Leu958Pro) | |
| X | g.153954617A>T | CA415119407 | HCFC1 | c.3782T>A (p.Leu1261His) c.3584T>A (p.Leu1195His) c.2873T>A (p.Leu958His) | |
| X | g.153954618G>A | CA415119413 | HCFC1 | c.3781C>T (p.Leu1261Phe) c.3583C>T (p.Leu1195Phe) c.2872C>T (p.Leu958Phe) | gnomAD v4 |
| X | g.153954618G>C | CA415119414 | HCFC1 | c.3781C>G (p.Leu1261Val) c.3583C>G (p.Leu1195Val) c.2872C>G (p.Leu958Val) | |
| X | g.153954618G= | CA2466540205 | HCFC1 | c.3781C= (p.Leu1261=) c.3583C= (p.Leu1195=) c.2872C= (p.Leu958=) | |
| X | g.153954618G>T | CA415119410 | HCFC1 | c.3781C>A (p.Leu1261Ile) c.3583C>A (p.Leu1195Ile) c.2872C>A (p.Leu958Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153954619G>A | CA519702268 | HCFC1 | c.3780C>T (p.Ser1260=) c.3582C>T (p.Ser1194=) c.2871C>T (p.Ser957=) | |
| X | g.153954619G>C | CA415119416 | HCFC1 | c.3780C>G (p.Ser1260Arg) c.3582C>G (p.Ser1194Arg) c.2871C>G (p.Ser957Arg) | |
| X | g.153954619G= | CA2466540206 | HCFC1 | c.3780C= (p.Ser1260=) c.3582C= (p.Ser1194=) c.2871C= (p.Ser957=) | |
| X | g.153954619G>T | CA415119419 | HCFC1 | c.3780C>A (p.Ser1260Arg) c.3582C>A (p.Ser1194Arg) c.2871C>A (p.Ser957Arg) | dbSNP |
| X | g.153954620C>A | CA415119421 | HCFC1 | c.3779G>T (p.Ser1260Ile) c.3581G>T (p.Ser1194Ile) c.2870G>T (p.Ser957Ile) | ClinVar dbSNP |
| X | g.153954620C= | CA2466540207 | HCFC1 | c.3779G= (p.Ser1260=) c.3581G= (p.Ser1194=) c.2870G= (p.Ser957=) | |
| X | g.153954620C>G | CA415119425 | HCFC1 | c.3779G>C (p.Ser1260Thr) c.3581G>C (p.Ser1194Thr) c.2870G>C (p.Ser957Thr) | |
| X | g.153954620C>T | CA415119427 | HCFC1 | c.3779G>A (p.Ser1260Asn) c.3581G>A (p.Ser1194Asn) c.2870G>A (p.Ser957Asn) | |
| X | g.153954621T>A | CA415119434 | HCFC1 | c.3778A>T (p.Ser1260Cys) c.3580A>T (p.Ser1194Cys) c.2869A>T (p.Ser957Cys) | |
| X | g.153954621T>C | CA415119430 | HCFC1 | c.3778A>G (p.Ser1260Gly) c.3580A>G (p.Ser1194Gly) c.2869A>G (p.Ser957Gly) | |
| X | g.153954621T>G | CA415119433 | HCFC1 | c.3778A>C (p.Ser1260Arg) c.3580A>C (p.Ser1194Arg) c.2869A>C (p.Ser957Arg) | |
| X | g.153954622C>A | CA415119437 | HCFC1 | c.3777G>T (p.Glu1259Asp) c.3579G>T (p.Glu1193Asp) c.2868G>T (p.Glu956Asp) | |
| X | g.153954622C>G | CA415119438 | HCFC1 | c.3777G>C (p.Glu1259Asp) c.3579G>C (p.Glu1193Asp) c.2868G>C (p.Glu956Asp) | |
| X | g.153954622C>T | CA519702273 | HCFC1 | c.3777G>A (p.Glu1259=) c.3579G>A (p.Glu1193=) c.2868G>A (p.Glu956=) | |
| X | g.153954623T>A | CA415119441 | HCFC1 | c.3776A>T (p.Glu1259Val) c.3578A>T (p.Glu1193Val) c.2867A>T (p.Glu956Val) | dbSNP |
| X | g.153954623T>C | CA415119444 | HCFC1 | c.3776A>G (p.Glu1259Gly) c.3578A>G (p.Glu1193Gly) c.2867A>G (p.Glu956Gly) | |
| X | g.153954623T>G | CA415119446 | HCFC1 | c.3776A>C (p.Glu1259Ala) c.3578A>C (p.Glu1193Ala) c.2867A>C (p.Glu956Ala) | |
| X | g.153954623T= | CA2466540208 | HCFC1 | c.3776A= (p.Glu1259=) c.3578A= (p.Glu1193=) c.2867A= (p.Glu956=) |