UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.44569998_44578320del | CA344360 | SPG11 | c.5866+5536_6001-451del c.5723-3237_6334-451del c.*2124-3237_*2735-451del c.*2359-3237_*2970-451del c.5666-3237_6277-451del c.*2630-3237_*3241-451del c.5867-3237_*120-451del c.5867-4533_*428-451del n.4913-3237_5524-451del c.*2287-3237_*2898-451del c.5867-3237_6478-451del c.5867-5458_6139-451del c.714+5536_849-451del c.5609-3237_6220-451del c.5867-3237_6477+569del c.2744-3237_3355-451del | ClinVar |
| 15 | g.44570546_44570553delinsGGGGGCCA | CA2173685314 | SPG11 | c.248_255delinsTGGCCCCC (p.Leu83=) c.5972_5979delinsTGGCCCCC (p.Leu1991=) c.6305_6312delinsTGGCCCCC (p.Leu2102=) c.*2706_*2713delinsTGGCCCCC (n.*2706_*2713delinsTGGCCCCC) c.*2941_*2948delinsTGGCCCCC (n.*2941_*2948delinsTGGCCCCC) c.6248_6255delinsTGGCCCCC (p.Leu2083=) c.*3212_*3219delinsTGGCCCCC (n.*3212_*3219delinsTGGCCCCC) c.*91_*98delinsTGGCCCCC (n.*91_*98delinsTGGCCCCC) c.*399_*406delinsTGGCCCCC (n.*399_*406delinsTGGCCCCC) n.5495_5502delinsTGGCCCCC c.*2869_*2876delinsTGGCCCCC (n.*2869_*2876delinsTGGCCCCC) c.6449_6456delinsTGGCCCCC (p.Leu2150=) c.6110_6117delinsTGGCCCCC (p.Leu2037=) n.278_285delinsTGGCCCCC c.820_827delinsTGGCCCCC n.275+2130_275+2137delinsTGGCCCCC c.6191_6198delinsTGGCCCCC (p.Leu2064=) c.3326_3333delinsTGGCCCCC (p.Leu1109=) | |
| 15 | g.44570549_44570555del | CA617675971 | SPG11 | c.248_254del (p.Leu83ProfsTer8) c.5972_5978del (p.Leu1991ProfsTer21) c.6305_6311del (p.Leu2102ProfsTer21) c.*2706_*2712del (n.*2706_*2712del) c.*2941_*2947del (n.*2941_*2947del) c.6248_6254del (p.Leu2083ProfsTer21) c.*3212_*3218del (n.*3212_*3218del) c.*91_*97del (n.*91_*97del) c.*399_*405del (n.*399_*405del) n.5495_5501del c.*2869_*2875del (n.*2869_*2875del) c.6449_6455del (p.Leu2150ProfsTer21) c.6110_6116del (p.Leu2037ProfsTer21) n.278_284del c.820_826del n.275+2130_275+2136del c.6191_6197del (p.Leu2064ProfsTer21) c.6449_6455del (p.Leu2150ProfsTer8) c.3326_3332del (p.Leu1109ProfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.44570552del | CA344376 | SPG11 | c.250del (p.Ala84ProfsTer9) c.5974del (p.Ala1992ProfsTer22) c.6307del (p.Ala2103ProfsTer22) c.*2708del (n.*2708del) c.*2943del (n.*2943del) c.6250del (p.Ala2084ProfsTer22) c.*3214del (n.*3214del) c.*93del (n.*93del) c.*401del (n.*401del) n.5497del c.*2871del (n.*2871del) c.6451del (p.Ala2151ProfsTer22) c.6112del (p.Ala2038ProfsTer22) n.280del c.822del n.275+2132del c.6193del (p.Ala2065ProfsTer22) c.6451del (p.Ala2151ProfsTer9) c.3328del (p.Ala1110ProfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.44570552C>A | CA490203066 | SPG11 | c.249G>T (p.Leu83=) c.5973G>T (p.Leu1991=) c.6306G>T (p.Leu2102=) c.*2707G>T (n.*2707G>T) c.*2942G>T (n.*2942G>T) c.6249G>T (p.Leu2083=) c.*3213G>T (n.*3213G>T) c.*92G>T (n.*92G>T) c.*400G>T (n.*400G>T) n.5496G>T c.*2870G>T (n.*2870G>T) c.6450G>T (p.Leu2150=) c.6111G>T (p.Leu2037=) n.279G>T c.821G>T n.275+2131G>T c.6192G>T (p.Leu2064=) c.3327G>T (p.Leu1109=) | |
| 15 | g.44570552C= | CA2173685342 | SPG11 | c.249G= (p.Leu83=) c.5973G= (p.Leu1991=) c.6306G= (p.Leu2102=) c.*2707G= (n.*2707G=) c.*2942G= (n.*2942G=) c.6249G= (p.Leu2083=) c.*3213G= (n.*3213G=) c.*92G= (n.*92G=) c.*400G= (n.*400G=) n.5496G= c.*2870G= (n.*2870G=) c.6450G= (p.Leu2150=) c.6111G= (p.Leu2037=) n.279G= c.821G= n.275+2131G= c.6192G= (p.Leu2064=) c.3327G= (p.Leu1109=) | |
| 15 | g.44570552C>G | CA490203068 | SPG11 | c.249G>C (p.Leu83=) c.5973G>C (p.Leu1991=) c.6306G>C (p.Leu2102=) c.*2707G>C (n.*2707G>C) c.*2942G>C (n.*2942G>C) c.6249G>C (p.Leu2083=) c.*3213G>C (n.*3213G>C) c.*92G>C (n.*92G>C) c.*400G>C (n.*400G>C) n.5496G>C c.*2870G>C (n.*2870G>C) c.6450G>C (p.Leu2150=) c.6111G>C (p.Leu2037=) n.279G>C c.821G>C n.275+2131G>C c.6192G>C (p.Leu2064=) c.3327G>C (p.Leu1109=) | dbSNP |
| 15 | g.44570552C>T | CA490203070 | SPG11 | c.249G>A (p.Leu83=) c.5973G>A (p.Leu1991=) c.6306G>A (p.Leu2102=) c.*2707G>A (n.*2707G>A) c.*2942G>A (n.*2942G>A) c.6249G>A (p.Leu2083=) c.*3213G>A (n.*3213G>A) c.*92G>A (n.*92G>A) c.*400G>A (n.*400G>A) n.5496G>A c.*2870G>A (n.*2870G>A) c.6450G>A (p.Leu2150=) c.6111G>A (p.Leu2037=) n.279G>A c.821G>A n.275+2131G>A c.6192G>A (p.Leu2064=) c.3327G>A (p.Leu1109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.44570553A>C | CA392216287 | SPG11 | c.248T>G (p.Leu83Arg) c.5972T>G (p.Leu1991Arg) c.6305T>G (p.Leu2102Arg) c.*2706T>G (n.*2706T>G) c.*2941T>G (n.*2941T>G) c.6248T>G (p.Leu2083Arg) c.*3212T>G (n.*3212T>G) c.*91T>G (n.*91T>G) c.*399T>G (n.*399T>G) n.5495T>G c.*2869T>G (n.*2869T>G) c.6449T>G (p.Leu2150Arg) c.6110T>G (p.Leu2037Arg) n.278T>G c.820T>G n.518T>G n.275+2130T>G c.6191T>G (p.Leu2064Arg) c.3326T>G (p.Leu1109Arg) | |
| 15 | g.44570553A>G | CA392216286 | SPG11 | c.248T>C (p.Leu83Pro) c.5972T>C (p.Leu1991Pro) c.6305T>C (p.Leu2102Pro) c.*2706T>C (n.*2706T>C) c.*2941T>C (n.*2941T>C) c.6248T>C (p.Leu2083Pro) c.*3212T>C (n.*3212T>C) c.*91T>C (n.*91T>C) c.*399T>C (n.*399T>C) n.5495T>C c.*2869T>C (n.*2869T>C) c.6449T>C (p.Leu2150Pro) c.6110T>C (p.Leu2037Pro) n.278T>C c.820T>C n.518T>C n.275+2130T>C c.6191T>C (p.Leu2064Pro) c.3326T>C (p.Leu1109Pro) | |
| 15 | g.44570553A>T | CA392216285 | SPG11 | c.248T>A (p.Leu83Gln) c.5972T>A (p.Leu1991Gln) c.6305T>A (p.Leu2102Gln) c.*2706T>A (n.*2706T>A) c.*2941T>A (n.*2941T>A) c.6248T>A (p.Leu2083Gln) c.*3212T>A (n.*3212T>A) c.*91T>A (n.*91T>A) c.*399T>A (n.*399T>A) n.5495T>A c.*2869T>A (n.*2869T>A) c.6449T>A (p.Leu2150Gln) c.6110T>A (p.Leu2037Gln) n.278T>A c.820T>A n.518T>A n.275+2130T>A c.6191T>A (p.Leu2064Gln) c.3326T>A (p.Leu1109Gln) | |
| 15 | g.44570554G>A | CA490203073 | SPG11 | c.247C>T (p.Leu83=) c.5971C>T (p.Leu1991=) c.6304C>T (p.Leu2102=) c.*2705C>T (n.*2705C>T) c.*2940C>T (n.*2940C>T) c.6247C>T (p.Leu2083=) c.*3211C>T (n.*3211C>T) c.*90C>T (n.*90C>T) c.*398C>T (n.*398C>T) n.5494C>T c.*2868C>T (n.*2868C>T) c.6448C>T (p.Leu2150=) c.6109C>T (p.Leu2037=) n.277C>T c.819C>T n.517C>T n.275+2129C>T c.6190C>T (p.Leu2064=) c.3325C>T (p.Leu1109=) | |
| 15 | g.44570554G>C | CA392216289 | SPG11 | c.247C>G (p.Leu83Val) c.5971C>G (p.Leu1991Val) c.6304C>G (p.Leu2102Val) c.*2705C>G (n.*2705C>G) c.*2940C>G (n.*2940C>G) c.6247C>G (p.Leu2083Val) c.*3211C>G (n.*3211C>G) c.*90C>G (n.*90C>G) c.*398C>G (n.*398C>G) n.5494C>G c.*2868C>G (n.*2868C>G) c.6448C>G (p.Leu2150Val) c.6109C>G (p.Leu2037Val) n.277C>G c.819C>G n.517C>G n.275+2129C>G c.6190C>G (p.Leu2064Val) c.3325C>G (p.Leu1109Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.44570554G= | CA2173685348 | SPG11 | c.247C= (p.Leu83=) c.5971C= (p.Leu1991=) c.6304C= (p.Leu2102=) c.*2705C= (n.*2705C=) c.*2940C= (n.*2940C=) c.6247C= (p.Leu2083=) c.*3211C= (n.*3211C=) c.*90C= (n.*90C=) c.*398C= (n.*398C=) n.5494C= c.*2868C= (n.*2868C=) c.6448C= (p.Leu2150=) c.6109C= (p.Leu2037=) n.277C= c.819C= n.517C= n.275+2129C= c.6190C= (p.Leu2064=) c.3325C= (p.Leu1109=) | |
| 15 | g.44570554G>T | CA392216288 | SPG11 | c.247C>A (p.Leu83Met) c.5971C>A (p.Leu1991Met) c.6304C>A (p.Leu2102Met) c.*2705C>A (n.*2705C>A) c.*2940C>A (n.*2940C>A) c.6247C>A (p.Leu2083Met) c.*3211C>A (n.*3211C>A) c.*90C>A (n.*90C>A) c.*398C>A (n.*398C>A) n.5494C>A c.*2868C>A (n.*2868C>A) c.6448C>A (p.Leu2150Met) c.6109C>A (p.Leu2037Met) n.277C>A c.819C>A n.517C>A n.275+2129C>A c.6190C>A (p.Leu2064Met) c.3325C>A (p.Leu1109Met) | |
| 15 | g.44570555G>A | CA490203075 | SPG11 | c.246C>T (p.His82=) c.5970C>T (p.His1990=) c.6303C>T (p.His2101=) c.*2704C>T (n.*2704C>T) c.*2939C>T (n.*2939C>T) c.6246C>T (p.His2082=) c.*3210C>T (n.*3210C>T) c.*89C>T (n.*89C>T) c.*397C>T (n.*397C>T) n.5493C>T c.*2867C>T (n.*2867C>T) c.6447C>T (p.His2149=) c.6108C>T (p.His2036=) n.276C>T c.818C>T n.516C>T n.275+2128C>T c.6189C>T (p.His2063=) c.3324C>T (p.His1108=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.44570555G>C | CA392216290 | SPG11 | c.246C>G (p.His82Gln) c.5970C>G (p.His1990Gln) c.6303C>G (p.His2101Gln) c.*2704C>G (n.*2704C>G) c.*2939C>G (n.*2939C>G) c.6246C>G (p.His2082Gln) c.*3210C>G (n.*3210C>G) c.*89C>G (n.*89C>G) c.*397C>G (n.*397C>G) n.5493C>G c.*2867C>G (n.*2867C>G) c.6447C>G (p.His2149Gln) c.6108C>G (p.His2036Gln) n.276C>G c.818C>G n.516C>G n.275+2128C>G c.6189C>G (p.His2063Gln) c.3324C>G (p.His1108Gln) | gnomAD v4 |
| 15 | g.44570555G= | CA2173685351 | SPG11 | c.246C= (p.His82=) c.5970C= (p.His1990=) c.6303C= (p.His2101=) c.*2704C= (n.*2704C=) c.*2939C= (n.*2939C=) c.6246C= (p.His2082=) c.*3210C= (n.*3210C=) c.*89C= (n.*89C=) c.*397C= (n.*397C=) n.5493C= c.*2867C= (n.*2867C=) c.6447C= (p.His2149=) c.6108C= (p.His2036=) n.276C= c.818C= n.516C= n.275+2128C= c.6189C= (p.His2063=) c.3324C= (p.His1108=) | |
| 15 | g.44570555G>T | CA7534131 | SPG11 | c.246C>A (p.His82Gln) c.5970C>A (p.His1990Gln) c.6303C>A (p.His2101Gln) c.*2704C>A (n.*2704C>A) c.*2939C>A (n.*2939C>A) c.6246C>A (p.His2082Gln) c.*3210C>A (n.*3210C>A) c.*89C>A (n.*89C>A) c.*397C>A (n.*397C>A) n.5493C>A c.*2867C>A (n.*2867C>A) c.6447C>A (p.His2149Gln) c.6108C>A (p.His2036Gln) n.276C>A c.818C>A n.516C>A n.275+2128C>A c.6189C>A (p.His2063Gln) c.3324C>A (p.His1108Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.44570556del | CA2575708334 | SPG11 | c.245del (p.His82ProfsTer11) c.5969del (p.His1990ProfsTer24) c.6302del (p.His2101ProfsTer24) c.*2703del (n.*2703del) c.*2938del (n.*2938del) c.6245del (p.His2082ProfsTer24) c.*3209del (n.*3209del) c.*88del (n.*88del) c.*396del (n.*396del) n.5492del c.*2866del (n.*2866del) c.6446del (p.His2149ProfsTer24) c.6107del (p.His2036ProfsTer24) n.275del c.817del n.515del n.275+2127del c.6188del (p.His2063ProfsTer24) c.6446del (p.His2149ProfsTer11) c.3323del (p.His1108ProfsTer24) | |
| 15 | g.44570556T>A | CA392216291 | SPG11 | c.245A>T (p.His82Leu) c.5969A>T (p.His1990Leu) c.6302A>T (p.His2101Leu) c.*2703A>T (n.*2703A>T) c.*2938A>T (n.*2938A>T) c.6245A>T (p.His2082Leu) c.*3209A>T (n.*3209A>T) c.*88A>T (n.*88A>T) c.*396A>T (n.*396A>T) n.5492A>T c.*2866A>T (n.*2866A>T) c.6446A>T (p.His2149Leu) c.6107A>T (p.His2036Leu) n.275A>T c.817A>T n.515A>T n.275+2127A>T c.6188A>T (p.His2063Leu) c.3323A>T (p.His1108Leu) | |
| 15 | g.44570556T>C | CA392216292 | SPG11 | c.245A>G (p.His82Arg) c.5969A>G (p.His1990Arg) c.6302A>G (p.His2101Arg) c.*2703A>G (n.*2703A>G) c.*2938A>G (n.*2938A>G) c.6245A>G (p.His2082Arg) c.*3209A>G (n.*3209A>G) c.*88A>G (n.*88A>G) c.*396A>G (n.*396A>G) n.5492A>G c.*2866A>G (n.*2866A>G) c.6446A>G (p.His2149Arg) c.6107A>G (p.His2036Arg) n.275A>G c.817A>G n.515A>G n.275+2127A>G c.6188A>G (p.His2063Arg) c.3323A>G (p.His1108Arg) | dbSNP |
| 15 | g.44570556T>G | CA392216293 | SPG11 | c.245A>C (p.His82Pro) c.5969A>C (p.His1990Pro) c.6302A>C (p.His2101Pro) c.*2703A>C (n.*2703A>C) c.*2938A>C (n.*2938A>C) c.6245A>C (p.His2082Pro) c.*3209A>C (n.*3209A>C) c.*88A>C (n.*88A>C) c.*396A>C (n.*396A>C) n.5492A>C c.*2866A>C (n.*2866A>C) c.6446A>C (p.His2149Pro) c.6107A>C (p.His2036Pro) n.275A>C c.817A>C n.515A>C n.275+2127A>C c.6188A>C (p.His2063Pro) c.3323A>C (p.His1108Pro) | |
| 15 | g.44570556T= | CA2173685355 | SPG11 | c.245A= (p.His82=) c.5969A= (p.His1990=) c.6302A= (p.His2101=) c.*2703A= (n.*2703A=) c.*2938A= (n.*2938A=) c.6245A= (p.His2082=) c.*3209A= (n.*3209A=) c.*88A= (n.*88A=) c.*396A= (n.*396A=) n.5492A= c.*2866A= (n.*2866A=) c.6446A= (p.His2149=) c.6107A= (p.His2036=) n.275A= c.817A= n.515A= n.275+2127A= c.6188A= (p.His2063=) c.3323A= (p.His1108=) | |
| 15 | g.44570557G>A | CA392216296 | SPG11 | c.244C>T (p.His82Tyr) c.5968C>T (p.His1990Tyr) c.6301C>T (p.His2101Tyr) c.*2702C>T (n.*2702C>T) c.*2937C>T (n.*2937C>T) c.6244C>T (p.His2082Tyr) c.*3208C>T (n.*3208C>T) c.*87C>T (n.*87C>T) c.*395C>T (n.*395C>T) n.5491C>T c.*2865C>T (n.*2865C>T) c.6445C>T (p.His2149Tyr) c.6106C>T (p.His2036Tyr) n.274C>T c.816C>T n.514C>T n.275+2126C>T c.6187C>T (p.His2063Tyr) c.3322C>T (p.His1108Tyr) | |
| 15 | g.44570557G>C | CA392216294 | SPG11 | c.244C>G (p.His82Asp) c.5968C>G (p.His1990Asp) c.6301C>G (p.His2101Asp) c.*2702C>G (n.*2702C>G) c.*2937C>G (n.*2937C>G) c.6244C>G (p.His2082Asp) c.*3208C>G (n.*3208C>G) c.*87C>G (n.*87C>G) c.*395C>G (n.*395C>G) n.5491C>G c.*2865C>G (n.*2865C>G) c.6445C>G (p.His2149Asp) c.6106C>G (p.His2036Asp) n.274C>G c.816C>G n.514C>G n.275+2126C>G c.6187C>G (p.His2063Asp) c.3322C>G (p.His1108Asp) | |
| 15 | g.44570557G>T | CA392216295 | SPG11 | c.244C>A (p.His82Asn) c.5968C>A (p.His1990Asn) c.6301C>A (p.His2101Asn) c.*2702C>A (n.*2702C>A) c.*2937C>A (n.*2937C>A) c.6244C>A (p.His2082Asn) c.*3208C>A (n.*3208C>A) c.*87C>A (n.*87C>A) c.*395C>A (n.*395C>A) n.5491C>A c.*2865C>A (n.*2865C>A) c.6445C>A (p.His2149Asn) c.6106C>A (p.His2036Asn) n.274C>A c.816C>A n.514C>A n.275+2126C>A c.6187C>A (p.His2063Asn) c.3322C>A (p.His1108Asn) | |
| 15 | g.44570558G>A | CA490203079 | SPG11 | c.243C>T (p.Asn81=) c.5967C>T (p.Asn1989=) c.6300C>T (p.Asn2100=) c.*2701C>T (n.*2701C>T) c.*2936C>T (n.*2936C>T) c.6243C>T (p.Asn2081=) c.*3207C>T (n.*3207C>T) c.*86C>T (n.*86C>T) c.*394C>T (n.*394C>T) n.5490C>T c.*2864C>T (n.*2864C>T) c.6444C>T (p.Asn2148=) c.6105C>T (p.Asn2035=) n.273C>T c.815C>T n.513C>T n.275+2125C>T c.6186C>T (p.Asn2062=) c.3321C>T (p.Asn1107=) | COSMIC |
| 15 | g.44570558G>C | CA392216297 | SPG11 | c.243C>G (p.Asn81Lys) c.5967C>G (p.Asn1989Lys) c.6300C>G (p.Asn2100Lys) c.*2701C>G (n.*2701C>G) c.*2936C>G (n.*2936C>G) c.6243C>G (p.Asn2081Lys) c.*3207C>G (n.*3207C>G) c.*86C>G (n.*86C>G) c.*394C>G (n.*394C>G) n.5490C>G c.*2864C>G (n.*2864C>G) c.6444C>G (p.Asn2148Lys) c.6105C>G (p.Asn2035Lys) n.273C>G c.815C>G n.513C>G n.275+2125C>G c.6186C>G (p.Asn2062Lys) c.3321C>G (p.Asn1107Lys) | |
| 15 | g.44570558G>T | CA392216298 | SPG11 | c.243C>A (p.Asn81Lys) c.5967C>A (p.Asn1989Lys) c.6300C>A (p.Asn2100Lys) c.*2701C>A (n.*2701C>A) c.*2936C>A (n.*2936C>A) c.6243C>A (p.Asn2081Lys) c.*3207C>A (n.*3207C>A) c.*86C>A (n.*86C>A) c.*394C>A (n.*394C>A) n.5490C>A c.*2864C>A (n.*2864C>A) c.6444C>A (p.Asn2148Lys) c.6105C>A (p.Asn2035Lys) n.273C>A c.815C>A n.513C>A n.275+2125C>A c.6186C>A (p.Asn2062Lys) c.3321C>A (p.Asn1107Lys) | |
| 15 | g.44570559T>A | CA392216299 | SPG11 | c.242A>T (p.Asn81Ile) c.5966A>T (p.Asn1989Ile) c.6299A>T (p.Asn2100Ile) c.*2700A>T (n.*2700A>T) c.*2935A>T (n.*2935A>T) c.6242A>T (p.Asn2081Ile) c.*3206A>T (n.*3206A>T) c.*85A>T (n.*85A>T) c.*393A>T (n.*393A>T) n.5489A>T c.*2863A>T (n.*2863A>T) c.6443A>T (p.Asn2148Ile) c.6104A>T (p.Asn2035Ile) n.272A>T c.814A>T n.512A>T n.275+2124A>T c.6185A>T (p.Asn2062Ile) c.3320A>T (p.Asn1107Ile) | |
| 15 | g.44570559T>C | CA392216300 | SPG11 | c.242A>G (p.Asn81Ser) c.5966A>G (p.Asn1989Ser) c.6299A>G (p.Asn2100Ser) c.*2700A>G (n.*2700A>G) c.*2935A>G (n.*2935A>G) c.6242A>G (p.Asn2081Ser) c.*3206A>G (n.*3206A>G) c.*85A>G (n.*85A>G) c.*393A>G (n.*393A>G) n.5489A>G c.*2863A>G (n.*2863A>G) c.6443A>G (p.Asn2148Ser) c.6104A>G (p.Asn2035Ser) n.272A>G c.814A>G n.512A>G n.275+2124A>G c.6185A>G (p.Asn2062Ser) c.3320A>G (p.Asn1107Ser) | gnomAD v4 |
| 15 | g.44570559T>G | CA392216301 | SPG11 | c.242A>C (p.Asn81Thr) c.5966A>C (p.Asn1989Thr) c.6299A>C (p.Asn2100Thr) c.*2700A>C (n.*2700A>C) c.*2935A>C (n.*2935A>C) c.6242A>C (p.Asn2081Thr) c.*3206A>C (n.*3206A>C) c.*85A>C (n.*85A>C) c.*393A>C (n.*393A>C) n.5489A>C c.*2863A>C (n.*2863A>C) c.6443A>C (p.Asn2148Thr) c.6104A>C (p.Asn2035Thr) n.272A>C c.814A>C n.512A>C n.275+2124A>C c.6185A>C (p.Asn2062Thr) c.3320A>C (p.Asn1107Thr) | ClinVar gnomAD v4 |
| 15 | g.44570560T>A | CA392216302 | SPG11 | c.241A>T (p.Asn81Tyr) c.5965A>T (p.Asn1989Tyr) c.6298A>T (p.Asn2100Tyr) c.*2699A>T (n.*2699A>T) c.*2934A>T (n.*2934A>T) c.6241A>T (p.Asn2081Tyr) c.*3205A>T (n.*3205A>T) c.*84A>T (n.*84A>T) c.*392A>T (n.*392A>T) n.5488A>T c.*2862A>T (n.*2862A>T) c.6442A>T (p.Asn2148Tyr) c.6103A>T (p.Asn2035Tyr) n.271A>T c.813A>T n.511A>T n.275+2123A>T c.6184A>T (p.Asn2062Tyr) c.3319A>T (p.Asn1107Tyr) | |
| 15 | g.44570560T>C | CA392216304 | SPG11 | c.241A>G (p.Asn81Asp) c.5965A>G (p.Asn1989Asp) c.6298A>G (p.Asn2100Asp) c.*2699A>G (n.*2699A>G) c.*2934A>G (n.*2934A>G) c.6241A>G (p.Asn2081Asp) c.*3205A>G (n.*3205A>G) c.*84A>G (n.*84A>G) c.*392A>G (n.*392A>G) n.5488A>G c.*2862A>G (n.*2862A>G) c.6442A>G (p.Asn2148Asp) c.6103A>G (p.Asn2035Asp) n.271A>G c.813A>G n.511A>G n.275+2123A>G c.6184A>G (p.Asn2062Asp) c.3319A>G (p.Asn1107Asp) | |
| 15 | g.44570560T>G | CA392216303 | SPG11 | c.241A>C (p.Asn81His) c.5965A>C (p.Asn1989His) c.6298A>C (p.Asn2100His) c.*2699A>C (n.*2699A>C) c.*2934A>C (n.*2934A>C) c.6241A>C (p.Asn2081His) c.*3205A>C (n.*3205A>C) c.*84A>C (n.*84A>C) c.*392A>C (n.*392A>C) n.5488A>C c.*2862A>C (n.*2862A>C) c.6442A>C (p.Asn2148His) c.6103A>C (p.Asn2035His) n.271A>C c.813A>C n.511A>C n.275+2123A>C c.6184A>C (p.Asn2062His) c.3319A>C (p.Asn1107His) | |
| 15 | g.44570561_44570564del | CA2575708335 | SPG11 | c.238_241del (p.Asp80ThrfsTer12) c.5962_5965del (p.Asp1988ThrfsTer25) c.6295_6298del (p.Asp2099ThrfsTer25) c.*2696_*2699del (n.*2696_*2699del) c.*2931_*2934del (n.*2931_*2934del) c.6238_6241del (p.Asp2080ThrfsTer25) c.*3202_*3205del (n.*3202_*3205del) c.*81_*84del (n.*81_*84del) c.*389_*392del (n.*389_*392del) n.5485_5488del c.*2859_*2862del (n.*2859_*2862del) c.6439_6442del (p.Asp2147ThrfsTer25) c.6100_6103del (p.Asp2034ThrfsTer25) n.268_271del c.810_813del n.508_511del n.275+2120_275+2123del c.6181_6184del (p.Asp2061ThrfsTer25) c.6439_6442del (p.Asp2147ThrfsTer12) c.3316_3319del (p.Asp1106ThrfsTer25) | gnomAD v4 |
| 15 | g.44570561A>C | CA392216305 | SPG11 | c.240T>G (p.Asp80Glu) c.5964T>G (p.Asp1988Glu) c.6297T>G (p.Asp2099Glu) c.*2698T>G (n.*2698T>G) c.*2933T>G (n.*2933T>G) c.6240T>G (p.Asp2080Glu) c.*3204T>G (n.*3204T>G) c.*83T>G (n.*83T>G) c.*391T>G (n.*391T>G) n.5487T>G c.*2861T>G (n.*2861T>G) c.6441T>G (p.Asp2147Glu) c.6102T>G (p.Asp2034Glu) n.270T>G c.812T>G n.510T>G n.275+2122T>G c.6183T>G (p.Asp2061Glu) c.3318T>G (p.Asp1106Glu) | |
| 15 | g.44570561A>G | CA490203085 | SPG11 | c.240T>C (p.Asp80=) c.5964T>C (p.Asp1988=) c.6297T>C (p.Asp2099=) c.*2698T>C (n.*2698T>C) c.*2933T>C (n.*2933T>C) c.6240T>C (p.Asp2080=) c.*3204T>C (n.*3204T>C) c.*83T>C (n.*83T>C) c.*391T>C (n.*391T>C) n.5487T>C c.*2861T>C (n.*2861T>C) c.6441T>C (p.Asp2147=) c.6102T>C (p.Asp2034=) n.270T>C c.812T>C n.510T>C n.275+2122T>C c.6183T>C (p.Asp2061=) c.3318T>C (p.Asp1106=) | |
| 15 | g.44570561A>T | CA392216306 | SPG11 | c.240T>A (p.Asp80Glu) c.5964T>A (p.Asp1988Glu) c.6297T>A (p.Asp2099Glu) c.*2698T>A (n.*2698T>A) c.*2933T>A (n.*2933T>A) c.6240T>A (p.Asp2080Glu) c.*3204T>A (n.*3204T>A) c.*83T>A (n.*83T>A) c.*391T>A (n.*391T>A) n.5487T>A c.*2861T>A (n.*2861T>A) c.6441T>A (p.Asp2147Glu) c.6102T>A (p.Asp2034Glu) n.270T>A c.812T>A n.510T>A n.275+2122T>A c.6183T>A (p.Asp2061Glu) c.3318T>A (p.Asp1106Glu) | |
| 15 | g.44570562T>A | CA392216307 | SPG11 | c.239A>T (p.Asp80Val) c.5963A>T (p.Asp1988Val) c.6296A>T (p.Asp2099Val) c.*2697A>T (n.*2697A>T) c.*2932A>T (n.*2932A>T) c.6239A>T (p.Asp2080Val) c.*3203A>T (n.*3203A>T) c.*82A>T (n.*82A>T) c.*390A>T (n.*390A>T) n.5486A>T c.*2860A>T (n.*2860A>T) c.6440A>T (p.Asp2147Val) c.6101A>T (p.Asp2034Val) n.269A>T c.811A>T n.509A>T n.275+2121A>T c.6182A>T (p.Asp2061Val) c.3317A>T (p.Asp1106Val) | |
| 15 | g.44570562T>C | CA392216308 | SPG11 | c.239A>G (p.Asp80Gly) c.5963A>G (p.Asp1988Gly) c.6296A>G (p.Asp2099Gly) c.*2697A>G (n.*2697A>G) c.*2932A>G (n.*2932A>G) c.6239A>G (p.Asp2080Gly) c.*3203A>G (n.*3203A>G) c.*82A>G (n.*82A>G) c.*390A>G (n.*390A>G) n.5486A>G c.*2860A>G (n.*2860A>G) c.6440A>G (p.Asp2147Gly) c.6101A>G (p.Asp2034Gly) n.269A>G c.811A>G n.509A>G n.275+2121A>G c.6182A>G (p.Asp2061Gly) c.3317A>G (p.Asp1106Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.44570562T>G | CA392216309 | SPG11 | c.239A>C (p.Asp80Ala) c.5963A>C (p.Asp1988Ala) c.6296A>C (p.Asp2099Ala) c.*2697A>C (n.*2697A>C) c.*2932A>C (n.*2932A>C) c.6239A>C (p.Asp2080Ala) c.*3203A>C (n.*3203A>C) c.*82A>C (n.*82A>C) c.*390A>C (n.*390A>C) n.5486A>C c.*2860A>C (n.*2860A>C) c.6440A>C (p.Asp2147Ala) c.6101A>C (p.Asp2034Ala) n.269A>C c.811A>C n.509A>C n.275+2121A>C c.6182A>C (p.Asp2061Ala) c.3317A>C (p.Asp1106Ala) | |
| 15 | g.44570562T= | CA2173685360 | SPG11 | c.239A= (p.Asp80=) c.5963A= (p.Asp1988=) c.6296A= (p.Asp2099=) c.*2697A= (n.*2697A=) c.*2932A= (n.*2932A=) c.6239A= (p.Asp2080=) c.*3203A= (n.*3203A=) c.*82A= (n.*82A=) c.*390A= (n.*390A=) n.5486A= c.*2860A= (n.*2860A=) c.6440A= (p.Asp2147=) c.6101A= (p.Asp2034=) n.269A= c.811A= n.509A= n.275+2121A= c.6182A= (p.Asp2061=) c.3317A= (p.Asp1106=) | |
| 15 | g.44570563C>A | CA392216310 | SPG11 | c.238G>T (p.Asp80Tyr) c.5962G>T (p.Asp1988Tyr) c.6295G>T (p.Asp2099Tyr) c.*2696G>T (n.*2696G>T) c.*2931G>T (n.*2931G>T) c.6238G>T (p.Asp2080Tyr) c.*3202G>T (n.*3202G>T) c.*81G>T (n.*81G>T) c.*389G>T (n.*389G>T) n.5485G>T c.*2859G>T (n.*2859G>T) c.6439G>T (p.Asp2147Tyr) c.6100G>T (p.Asp2034Tyr) n.268G>T c.810G>T n.508G>T n.275+2120G>T c.6181G>T (p.Asp2061Tyr) c.3316G>T (p.Asp1106Tyr) | |
| 15 | g.44570563C>G | CA392216311 | SPG11 | c.238G>C (p.Asp80His) c.5962G>C (p.Asp1988His) c.6295G>C (p.Asp2099His) c.*2696G>C (n.*2696G>C) c.*2931G>C (n.*2931G>C) c.6238G>C (p.Asp2080His) c.*3202G>C (n.*3202G>C) c.*81G>C (n.*81G>C) c.*389G>C (n.*389G>C) n.5485G>C c.*2859G>C (n.*2859G>C) c.6439G>C (p.Asp2147His) c.6100G>C (p.Asp2034His) n.268G>C c.810G>C n.508G>C n.275+2120G>C c.6181G>C (p.Asp2061His) c.3316G>C (p.Asp1106His) | gnomAD v4 |
| 15 | g.44570563C>T | CA392216312 | SPG11 | c.238G>A (p.Asp80Asn) c.5962G>A (p.Asp1988Asn) c.6295G>A (p.Asp2099Asn) c.*2696G>A (n.*2696G>A) c.*2931G>A (n.*2931G>A) c.6238G>A (p.Asp2080Asn) c.*3202G>A (n.*3202G>A) c.*81G>A (n.*81G>A) c.*389G>A (n.*389G>A) n.5485G>A c.*2859G>A (n.*2859G>A) c.6439G>A (p.Asp2147Asn) c.6100G>A (p.Asp2034Asn) n.268G>A c.810G>A n.508G>A n.275+2120G>A c.6181G>A (p.Asp2061Asn) c.3316G>A (p.Asp1106Asn) | gnomAD v4 |
| 15 | g.44570563_44570565delinsCTG | CA2173685363 | SPG11 | c.236_238delinsCAG (p.Thr79=) c.5960_5962delinsCAG (p.Thr1987=) c.6293_6295delinsCAG (p.Thr2098=) c.*2694_*2696delinsCAG (n.*2694_*2696delinsCAG) c.*2929_*2931delinsCAG (n.*2929_*2931delinsCAG) c.6236_6238delinsCAG (p.Thr2079=) c.*3200_*3202delinsCAG (n.*3200_*3202delinsCAG) c.*79_*81delinsCAG (n.*79_*81delinsCAG) c.*387_*389delinsCAG (n.*387_*389delinsCAG) n.5483_5485delinsCAG c.*2857_*2859delinsCAG (n.*2857_*2859delinsCAG) c.6437_6439delinsCAG (p.Thr2146=) c.6098_6100delinsCAG (p.Thr2033=) n.266_268delinsCAG c.808_810delinsCAG n.506_508delinsCAG n.275+2118_275+2120delinsCAG c.6179_6181delinsCAG (p.Thr2060=) c.3314_3316delinsCAG (p.Thr1105=) | |
| 15 | g.44570564T>A | CA490203089 | SPG11 | c.237A>T (p.Thr79=) c.5961A>T (p.Thr1987=) c.6294A>T (p.Thr2098=) c.*2695A>T (n.*2695A>T) c.*2930A>T (n.*2930A>T) c.6237A>T (p.Thr2079=) c.*3201A>T (n.*3201A>T) c.*80A>T (n.*80A>T) c.*388A>T (n.*388A>T) n.5484A>T c.*2858A>T (n.*2858A>T) c.6438A>T (p.Thr2146=) c.6099A>T (p.Thr2033=) n.267A>T c.809A>T n.507A>T n.275+2119A>T c.6180A>T (p.Thr2060=) c.3315A>T (p.Thr1105=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.44570564T>C | CA490203090 | SPG11 | c.237A>G (p.Thr79=) c.5961A>G (p.Thr1987=) c.6294A>G (p.Thr2098=) c.*2695A>G (n.*2695A>G) c.*2930A>G (n.*2930A>G) c.6237A>G (p.Thr2079=) c.*3201A>G (n.*3201A>G) c.*80A>G (n.*80A>G) c.*388A>G (n.*388A>G) n.5484A>G c.*2858A>G (n.*2858A>G) c.6438A>G (p.Thr2146=) c.6099A>G (p.Thr2033=) n.267A>G c.809A>G n.507A>G n.275+2119A>G c.6180A>G (p.Thr2060=) c.3315A>G (p.Thr1105=) | ClinVar |