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.38322323A= | CA2170799338 | SPRED1 | c.290A= (p.Lys97=) n.628A= c.227A= (p.Lys76=) c.326A= (p.Lys109=) c.68A= (p.Lys23=) | |
| 15 | g.38322323A>C | CA391932072 | SPRED1 | c.290A>C (p.Lys97Thr) n.628A>C c.227A>C (p.Lys76Thr) c.326A>C (p.Lys109Thr) c.68A>C (p.Lys23Thr) | |
| 15 | g.38322323A>G | CA7470034 | SPRED1 | c.290A>G (p.Lys97Arg) n.628A>G c.227A>G (p.Lys76Arg) c.326A>G (p.Lys109Arg) c.68A>G (p.Lys23Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38322323A>T | CA391932073 | SPRED1 | c.290A>T (p.Lys97Met) n.628A>T c.227A>T (p.Lys76Met) c.326A>T (p.Lys109Met) c.68A>T (p.Lys23Met) | |
| 15 | g.38322323_38322324delinsAG | CA2170799339 | SPRED1 | c.290_291delinsAG (p.Lys97=) n.628_629delinsAG c.227_228delinsAG (p.Lys76=) c.326_327delinsAG (p.Lys109=) c.68_69delinsAG (p.Lys23=) | |
| 15 | g.38322323_38322324delinsGA | CA658798296 | SPRED1 | c.290_291delinsGA (p.Lys97Arg) n.628_629delinsGA c.227_228delinsGA (p.Lys76Arg) c.326_327delinsGA (p.Lys109Arg) c.68_69delinsGA (p.Lys23Arg) | ClinVar dbSNP |
| 15 | g.38322324del | CA919534457 | SPRED1 | c.291del (p.Lys98SerfsTer23) n.629del c.228del (p.Lys77SerfsTer23) c.327del (p.Lys110SerfsTer23) c.69del (p.Lys24SerfsTer23) | ClinVar dbSNP |
| 15 | g.38322324G>A | CA142276 | SPRED1 | c.291G>A (p.Lys97=) n.629G>A c.228G>A (p.Lys76=) c.327G>A (p.Lys109=) c.69G>A (p.Lys23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38322324G>C | CA391932074 | SPRED1 | c.291G>C (p.Lys97Asn) n.629G>C c.228G>C (p.Lys76Asn) c.327G>C (p.Lys109Asn) c.69G>C (p.Lys23Asn) | |
| 15 | g.38322324G= | CA2170799340 | SPRED1 | c.291G= (p.Lys97=) n.629G= c.228G= (p.Lys76=) c.327G= (p.Lys109=) c.69G= (p.Lys23=) | |
| 15 | g.38322324G>T | CA391932075 | SPRED1 | c.291G>T (p.Lys97Asn) n.629G>T c.228G>T (p.Lys76Asn) c.327G>T (p.Lys109Asn) c.69G>T (p.Lys23Asn) | |
| 15 | g.38322325A>C | CA391932076 | SPRED1 | c.292A>C (p.Lys98Gln) n.630A>C c.229A>C (p.Lys77Gln) c.328A>C (p.Lys110Gln) c.70A>C (p.Lys24Gln) | |
| 15 | g.38322325A>G | CA391932077 | SPRED1 | c.292A>G (p.Lys98Glu) n.630A>G c.229A>G (p.Lys77Glu) c.328A>G (p.Lys110Glu) c.70A>G (p.Lys24Glu) | |
| 15 | g.38322325A>T | CA391932078 | SPRED1 | c.292A>T (p.Lys98Ter) n.630A>T c.229A>T (p.Lys77Ter) c.328A>T (p.Lys110Ter) c.70A>T (p.Lys24Ter) | |
| 15 | g.38322326A>C | CA391932079 | SPRED1 | c.293A>C (p.Lys98Thr) n.631A>C c.230A>C (p.Lys77Thr) c.329A>C (p.Lys110Thr) c.71A>C (p.Lys24Thr) | |
| 15 | g.38322326A>G | CA391932081 | SPRED1 | c.293A>G (p.Lys98Arg) n.631A>G c.230A>G (p.Lys77Arg) c.329A>G (p.Lys110Arg) c.71A>G (p.Lys24Arg) | |
| 15 | g.38322326A>T | CA391932080 | SPRED1 | c.293A>T (p.Lys98Met) n.631A>T c.230A>T (p.Lys77Met) c.329A>T (p.Lys110Met) c.71A>T (p.Lys24Met) | |
| 15 | g.38322327G>A | CA489921757 | SPRED1 | c.294G>A (p.Lys98=) n.632G>A c.231G>A (p.Lys77=) c.330G>A (p.Lys110=) c.72G>A (p.Lys24=) | dbSNP |
| 15 | g.38322327G>C | CA391932082 | SPRED1 | c.294G>C (p.Lys98Asn) n.632G>C c.231G>C (p.Lys77Asn) c.330G>C (p.Lys110Asn) c.72G>C (p.Lys24Asn) | gnomAD v4 |
| 15 | g.38322327G= | CA2170799341 | SPRED1 | c.294G= (p.Lys98=) n.632G= c.231G= (p.Lys77=) c.330G= (p.Lys110=) c.72G= (p.Lys24=) | |
| 15 | g.38322327G>T | CA391932083 | SPRED1 | c.294G>T (p.Lys98Asn) n.632G>T c.231G>T (p.Lys77Asn) c.330G>T (p.Lys110Asn) c.72G>T (p.Lys24Asn) | dbSNP gnomAD v2 |
| 15 | g.38322328T>A | CA391932084 | SPRED1 | c.295T>A (p.Phe99Ile) n.633T>A c.232T>A (p.Phe78Ile) c.331T>A (p.Phe111Ile) c.73T>A (p.Phe25Ile) | |
| 15 | g.38322328T>C | CA391932085 | SPRED1 | c.295T>C (p.Phe99Leu) n.633T>C c.232T>C (p.Phe78Leu) c.331T>C (p.Phe111Leu) c.73T>C (p.Phe25Leu) | gnomAD v4 |
| 15 | g.38322328T>G | CA391932086 | SPRED1 | c.295T>G (p.Phe99Val) n.633T>G c.232T>G (p.Phe78Val) c.331T>G (p.Phe111Val) c.73T>G (p.Phe25Val) | |
| 15 | g.38322329T>A | CA391932087 | SPRED1 | c.296T>A (p.Phe99Tyr) n.634T>A c.233T>A (p.Phe78Tyr) c.332T>A (p.Phe111Tyr) c.74T>A (p.Phe25Tyr) | |
| 15 | g.38322329T>C | CA391932088 | SPRED1 | c.296T>C (p.Phe99Ser) n.634T>C c.233T>C (p.Phe78Ser) c.332T>C (p.Phe111Ser) c.74T>C (p.Phe25Ser) | |
| 15 | g.38322329T>G | CA391932089 | SPRED1 | c.296T>G (p.Phe99Cys) n.634T>G c.233T>G (p.Phe78Cys) c.332T>G (p.Phe111Cys) c.74T>G (p.Phe25Cys) | |
| 15 | g.38322329T= | CA2170799342 | SPRED1 | c.296T= (p.Phe99=) n.634T= c.233T= (p.Phe78=) c.332T= (p.Phe111=) c.74T= (p.Phe25=) | |
| 15 | g.38322329_38322330insAATATACATATATCAAA | CA919534459 | SPRED1 | c.296_297insAATATACATATATCAAA (p.Phe99LeufsTer28) n.634_635insAATATACATATATCAAA c.233_234insAATATACATATATCAAA (p.Phe78LeufsTer28) c.332_333insAATATACATATATCAAA (p.Phe111LeufsTer28) c.74_75insAATATACATATATCAAA (p.Phe25LeufsTer28) | dbSNP |
| 15 | g.38322330T>A | CA391932090 | SPRED1 | c.297T>A (p.Phe99Leu) n.635T>A c.234T>A (p.Phe78Leu) c.333T>A (p.Phe111Leu) c.75T>A (p.Phe25Leu) | |
| 15 | g.38322330T>C | CA489921758 | SPRED1 | c.297T>C (p.Phe99=) n.635T>C c.234T>C (p.Phe78=) c.333T>C (p.Phe111=) c.75T>C (p.Phe25=) | |
| 15 | g.38322330T>G | CA391932091 | SPRED1 | c.297T>G (p.Phe99Leu) n.635T>G c.234T>G (p.Phe78Leu) c.333T>G (p.Phe111Leu) c.75T>G (p.Phe25Leu) | |
| 15 | g.38322331G>A | CA391932093 | SPRED1 | c.298G>A (p.Gly100Ser) n.636G>A c.235G>A (p.Gly79Ser) c.334G>A (p.Gly112Ser) c.76G>A (p.Gly26Ser) | |
| 15 | g.38322331G>C | CA391932094 | SPRED1 | c.298G>C (p.Gly100Arg) n.636G>C c.235G>C (p.Gly79Arg) c.334G>C (p.Gly112Arg) c.76G>C (p.Gly26Arg) | gnomAD v4 |
| 15 | g.38322331G= | CA2170799344 | SPRED1 | c.298G= (p.Gly100=) n.636G= c.235G= (p.Gly79=) c.334G= (p.Gly112=) c.76G= (p.Gly26=) | |
| 15 | g.38322331G>T | CA391932092 | SPRED1 | c.298G>T (p.Gly100Cys) n.636G>T c.235G>T (p.Gly79Cys) c.334G>T (p.Gly112Cys) c.76G>T (p.Gly26Cys) | |
| 15 | g.38322331_38322338delinsGGTCTTAC | CA2170799343 | SPRED1 | c.298_305delinsGGTCTTAC (p.Gly100=) n.636_643delinsGGTCTTAC c.235_242delinsGGTCTTAC (p.Gly79=) c.334_341delinsGGTCTTAC (p.Gly112=) c.76_83delinsGGTCTTAC (p.Gly26=) | |
| 15 | g.38322331_38322332insCATCTAAT | CA919534460 | SPRED1 | c.298_299insCATCTAAT (p.Gly100AlafsTer24) n.636_637insCATCTAAT c.235_236insCATCTAAT (p.Gly79AlafsTer24) c.334_335insCATCTAAT (p.Gly112AlafsTer24) c.76_77insCATCTAAT (p.Gly26AlafsTer24) | dbSNP |
| 15 | g.38322332G>A | CA391932095 | SPRED1 | c.299G>A (p.Gly100Asp) n.637G>A c.236G>A (p.Gly79Asp) c.335G>A (p.Gly112Asp) c.77G>A (p.Gly26Asp) | ClinVar dbSNP |
| 15 | g.38322332G>C | CA391932096 | SPRED1 | c.299G>C (p.Gly100Ala) n.637G>C c.236G>C (p.Gly79Ala) c.335G>C (p.Gly112Ala) c.77G>C (p.Gly26Ala) | |
| 15 | g.38322332G= | CA2170799345 | SPRED1 | c.299G= (p.Gly100=) n.637G= c.236G= (p.Gly79=) c.335G= (p.Gly112=) c.77G= (p.Gly26=) | |
| 15 | g.38322332G>T | CA391932097 | SPRED1 | c.299G>T (p.Gly100Val) n.637G>T c.236G>T (p.Gly79Val) c.335G>T (p.Gly112Val) c.77G>T (p.Gly26Val) | ClinVar dbSNP |
| 15 | g.38322334_38322340del | CA891844567 | SPRED1 | c.301_307del (p.Leu101PhefsTer18) n.639_645del c.238_244del (p.Leu80PhefsTer18) c.337_343del (p.Leu113PhefsTer18) c.79_85del (p.Leu27PhefsTer18) | ClinVar dbSNP |
| 15 | g.38322333T>A | CA489921759 | SPRED1 | c.300T>A (p.Gly100=) n.638T>A c.237T>A (p.Gly79=) c.336T>A (p.Gly112=) c.78T>A (p.Gly26=) | |
| 15 | g.38322333T>C | CA489921761 | SPRED1 | c.300T>C (p.Gly100=) n.638T>C c.237T>C (p.Gly79=) c.336T>C (p.Gly112=) c.78T>C (p.Gly26=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38322333T>G | CA489921760 | SPRED1 | c.300T>G (p.Gly100=) n.638T>G c.237T>G (p.Gly79=) c.336T>G (p.Gly112=) c.78T>G (p.Gly26=) | gnomAD v4 |
| 15 | g.38322333T= | CA2170799346 | SPRED1 | c.300T= (p.Gly100=) n.638T= c.237T= (p.Gly79=) c.336T= (p.Gly112=) c.78T= (p.Gly26=) | |
| 15 | g.38322334C>A | CA391932098 | SPRED1 | c.301C>A (p.Leu101Ile) n.639C>A c.238C>A (p.Leu80Ile) c.337C>A (p.Leu113Ile) c.79C>A (p.Leu27Ile) | |
| 15 | g.38322334C>G | CA391932099 | SPRED1 | c.301C>G (p.Leu101Val) n.639C>G c.238C>G (p.Leu80Val) c.337C>G (p.Leu113Val) c.79C>G (p.Leu27Val) | |
| 15 | g.38322334C>T | CA391932100 | SPRED1 | c.301C>T (p.Leu101Phe) n.639C>T c.238C>T (p.Leu80Phe) c.337C>T (p.Leu113Phe) c.79C>T (p.Leu27Phe) |