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 |
|---|---|---|---|---|---|
| 1 | g.2406702_2406723delinsTGTGGCCCCCGCACGCACCTGC | CA1149570908 | PEX10 | c.833_836+18delinsGCAGGTGCGTGCGGGGGCCACA c.773_776+18delinsGCAGGTGCGTGCGGGGGCCACA c.727_730+18delinsGCAGGTGCGTGCGGGGGCCACA c.*139_*142+18delinsGCAGGTGCGTGCGGGGGCCACA c.830_833+18delinsGCAGGTGCGTGCGGGGGCCACA c.398_401+18delinsGCAGGTGCGTGCGGGGGCCACA n.889_892+18delinsGCAGGTGCGTGCGGGGGCCACA n.838_841+18delinsGCAGGTGCGTGCGGGGGCCACA c.341_344+18delinsGCAGGTGCGTGCGGGGGCCACA n.888_891+18delinsGCAGGTGCGTGCGGGGGCCACA | |
| 1 | g.2406704_2406724del | CA997785964 | PEX10 | c.833_836+17del c.773_776+17del c.727_730+17del c.*139_*142+17del c.830_833+17del c.398_401+17del n.889_892+17del n.838_841+17del c.341_344+17del n.888_891+17del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.2406714_2406738dup | CA521014073 | PEX10 | c.822_836+10dup c.762_776+10dup c.716_730+10dup c.*128_*142+10dup c.819_833+10dup c.387_401+10dup n.878_892+10dup n.827_841+10dup c.330_344+10dup n.877_891+10dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406719C>A | CA337984927 | PEX10 | c.836+1G>T (n.836+1G>T) c.776+1G>T (n.776+1G>T) c.730+1G>T c.*142+1G>T (n.*142+1G>T) c.833+1G>T (n.833+1G>T) c.401+1G>T (n.401+1G>T) n.892+1G>T n.841+1G>T c.344+1G>T (n.344+1G>T) n.891+1G>T | |
| 1 | g.2406719C= | CA1149570919 | PEX10 | c.836+1G= (n.836+1G=) c.776+1G= (n.776+1G=) c.730+1G= c.*142+1G= (n.*142+1G=) c.833+1G= (n.833+1G=) c.401+1G= (n.401+1G=) n.892+1G= n.841+1G= c.344+1G= (n.344+1G=) n.891+1G= | |
| 1 | g.2406719C>G | CA358179 | PEX10 | c.836+1G>C (n.836+1G>C) c.776+1G>C (n.776+1G>C) c.730+1G>C c.*142+1G>C (n.*142+1G>C) c.833+1G>C (n.833+1G>C) c.401+1G>C (n.401+1G>C) n.892+1G>C n.841+1G>C c.344+1G>C (n.344+1G>C) n.891+1G>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.2406719C>T | CA337984929 | PEX10 | c.836+1G>A (n.836+1G>A) c.776+1G>A (n.776+1G>A) c.730+1G>A c.*142+1G>A (n.*142+1G>A) c.833+1G>A (n.833+1G>A) c.401+1G>A (n.401+1G>A) n.892+1G>A n.841+1G>A c.344+1G>A (n.344+1G>A) n.891+1G>A | ClinVar gnomAD v4 |
| 1 | g.2406720C>A | CA337984939 | PEX10 | c.836G>T (p.Arg279Met) c.776G>T (p.Arg259Met) c.730G>T c.*142G>T (n.*142G>T) c.833G>T (p.Arg278Met) c.401G>T (p.Arg134Met) n.892G>T n.841G>T c.344G>T (p.Arg115Met) n.891G>T | |
| 1 | g.2406720C>G | CA337984941 | PEX10 | c.836G>C (p.Arg279Thr) c.776G>C (p.Arg259Thr) c.730G>C c.*142G>C (n.*142G>C) c.833G>C (p.Arg278Thr) c.401G>C (p.Arg134Thr) n.892G>C n.841G>C c.344G>C (p.Arg115Thr) n.891G>C | |
| 1 | g.2406720C>T | CA337984943 | PEX10 | c.836G>A (p.Arg279Lys) c.776G>A (p.Arg259Lys) c.730G>A c.*142G>A (n.*142G>A) c.833G>A (p.Arg278Lys) c.401G>A (p.Arg134Lys) n.892G>A n.841G>A c.344G>A (p.Arg115Lys) n.891G>A | |
| 1 | g.2406721del | CA2642719926 | PEX10 | c.835del (p.Arg279GlyfsTer?) c.775del (p.Arg259GlyfsTer?) c.729del c.*141del (n.*141del) c.832del (p.Arg278GlyfsTer?) c.400del (p.Arg134GlyfsTer?) n.891del n.840del c.343del (p.Arg115GlyfsTer?) n.890del | gnomAD v4 |
| 1 | g.2406721T>A | CA337984945 | PEX10 | c.835A>T (p.Arg279Trp) c.775A>T (p.Arg259Trp) c.729A>T c.*141A>T (n.*141A>T) c.832A>T (p.Arg278Trp) c.400A>T (p.Arg134Trp) n.891A>T n.840A>T c.343A>T (p.Arg115Trp) n.890A>T | |
| 1 | g.2406721T>C | CA337984948 | PEX10 | c.835A>G (p.Arg279Gly) c.775A>G (p.Arg259Gly) c.729A>G c.*141A>G (n.*141A>G) c.832A>G (p.Arg278Gly) c.400A>G (p.Arg134Gly) n.891A>G n.840A>G c.343A>G (p.Arg115Gly) n.890A>G | |
| 1 | g.2406721T>G | CA415775449 | PEX10 | c.835A>C (p.Arg279=) c.775A>C (p.Arg259=) c.729A>C c.*141A>C (n.*141A>C) c.832A>C (p.Arg278=) c.400A>C (p.Arg134=) n.891A>C n.840A>C c.343A>C (p.Arg115=) n.890A>C | |
| 1 | g.2406722G>A | CA415775450 | PEX10 | c.834C>T (p.Arg278=) c.774C>T (p.Arg258=) c.728C>T c.*140C>T (n.*140C>T) c.831C>T (p.Arg277=) c.399C>T (p.Arg133=) n.890C>T n.839C>T c.342C>T (p.Arg114=) n.889C>T | |
| 1 | g.2406722G>C | CA415775452 | PEX10 | c.834C>G (p.Arg278=) c.774C>G (p.Arg258=) c.728C>G c.*140C>G (n.*140C>G) c.831C>G (p.Arg277=) c.399C>G (p.Arg133=) n.890C>G n.839C>G c.342C>G (p.Arg114=) n.889C>G | |
| 1 | g.2406722G>T | CA415775451 | PEX10 | c.834C>A (p.Arg278=) c.774C>A (p.Arg258=) c.728C>A c.*140C>A (n.*140C>A) c.831C>A (p.Arg277=) c.399C>A (p.Arg133=) n.890C>A n.839C>A c.342C>A (p.Arg114=) n.889C>A | |
| 1 | g.2406723C>A | CA337984949 | PEX10 | c.833G>T (p.Arg278Leu) c.773G>T (p.Arg258Leu) c.727G>T c.*139G>T (n.*139G>T) c.830G>T (p.Arg277Leu) c.398G>T (p.Arg133Leu) n.889G>T n.838G>T c.341G>T (p.Arg114Leu) n.888G>T | |
| 1 | g.2406723C= | CA1149570920 | PEX10 | c.833G= (p.Arg278=) c.773G= (p.Arg258=) c.727G= c.*139G= (n.*139G=) c.830G= (p.Arg277=) c.398G= (p.Arg133=) n.889G= n.838G= c.341G= (p.Arg114=) n.888G= | |
| 1 | g.2406723C>G | CA337984951 | PEX10 | c.833G>C (p.Arg278Pro) c.773G>C (p.Arg258Pro) c.727G>C c.*139G>C (n.*139G>C) c.830G>C (p.Arg277Pro) c.398G>C (p.Arg133Pro) n.889G>C n.838G>C c.341G>C (p.Arg114Pro) n.888G>C | |
| 1 | g.2406723C>T | CA538038 | PEX10 | c.833G>A (p.Arg278His) c.773G>A (p.Arg258His) c.727G>A c.*139G>A (n.*139G>A) c.830G>A (p.Arg277His) c.398G>A (p.Arg133His) n.889G>A n.838G>A c.341G>A (p.Arg114His) n.888G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406724G>A | CA538039 | PEX10 | c.832C>T (p.Arg278Cys) c.772C>T (p.Arg258Cys) c.726C>T c.*138C>T (n.*138C>T) c.829C>T (p.Arg277Cys) c.397C>T (p.Arg133Cys) n.888C>T n.837C>T c.340C>T (p.Arg114Cys) n.887C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.2406724G>C | CA538040 | PEX10 | c.832C>G (p.Arg278Gly) c.772C>G (p.Arg258Gly) c.726C>G c.*138C>G (n.*138C>G) c.829C>G (p.Arg277Gly) c.397C>G (p.Arg133Gly) n.888C>G n.837C>G c.340C>G (p.Arg114Gly) n.887C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406724G= | CA1149570921 | PEX10 | c.832C= (p.Arg278=) c.772C= (p.Arg258=) c.726C= c.*138C= (n.*138C=) c.829C= (p.Arg277=) c.397C= (p.Arg133=) n.888C= n.837C= c.340C= (p.Arg114=) n.887C= | |
| 1 | g.2406724G>T | CA337984954 | PEX10 | c.832C>A (p.Arg278Ser) c.772C>A (p.Arg258Ser) c.726C>A c.*138C>A (n.*138C>A) c.829C>A (p.Arg277Ser) c.397C>A (p.Arg133Ser) n.888C>A n.837C>A c.340C>A (p.Arg114Ser) n.887C>A | gnomAD v4 |
| 1 | g.2406725G>A | CA538041 | PEX10 | c.831C>T (p.His277=) c.771C>T (p.His257=) c.725C>T c.*137C>T (n.*137C>T) c.828C>T (p.His276=) c.396C>T (p.His132=) n.887C>T n.836C>T c.339C>T (p.His113=) n.886C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406725G>C | CA337984956 | PEX10 | c.831C>G (p.His277Gln) c.771C>G (p.His257Gln) c.725C>G c.*137C>G (n.*137C>G) c.828C>G (p.His276Gln) c.396C>G (p.His132Gln) n.887C>G n.836C>G c.339C>G (p.His113Gln) n.886C>G | gnomAD v4 |
| 1 | g.2406725G= | CA1149570922 | PEX10 | c.831C= (p.His277=) c.771C= (p.His257=) c.725C= c.*137C= (n.*137C=) c.828C= (p.His276=) c.396C= (p.His132=) n.887C= n.836C= c.339C= (p.His113=) n.886C= | |
| 1 | g.2406725G>T | CA337984964 | PEX10 | c.831C>A (p.His277Gln) c.771C>A (p.His257Gln) c.725C>A c.*137C>A (n.*137C>A) c.828C>A (p.His276Gln) c.396C>A (p.His132Gln) n.887C>A n.836C>A c.339C>A (p.His113Gln) n.886C>A | gnomAD v4 |
| 1 | g.2406726T>A | CA337984967 | PEX10 | c.830A>T (p.His277Leu) c.770A>T (p.His257Leu) c.724A>T c.*136A>T (n.*136A>T) c.827A>T (p.His276Leu) c.395A>T (p.His132Leu) n.886A>T n.835A>T c.338A>T (p.His113Leu) n.885A>T | |
| 1 | g.2406726T>C | CA337984975 | PEX10 | c.830A>G (p.His277Arg) c.770A>G (p.His257Arg) c.724A>G c.*136A>G (n.*136A>G) c.827A>G (p.His276Arg) c.395A>G (p.His132Arg) n.886A>G n.835A>G c.338A>G (p.His113Arg) n.885A>G | dbSNP |
| 1 | g.2406726T>G | CA337984977 | PEX10 | c.830A>C (p.His277Pro) c.770A>C (p.His257Pro) c.724A>C c.*136A>C (n.*136A>C) c.827A>C (p.His276Pro) c.395A>C (p.His132Pro) n.886A>C n.835A>C c.338A>C (p.His113Pro) n.885A>C | |
| 1 | g.2406726T= | CA1149570923 | PEX10 | c.830A= (p.His277=) c.770A= (p.His257=) c.724A= c.*136A= (n.*136A=) c.827A= (p.His276=) c.395A= (p.His132=) n.886A= n.835A= c.338A= (p.His113=) n.885A= | |
| 1 | g.2406727G>A | CA337984980 | PEX10 | c.829C>T (p.His277Tyr) c.769C>T (p.His257Tyr) c.723C>T c.*135C>T (n.*135C>T) c.826C>T (p.His276Tyr) c.394C>T (p.His132Tyr) n.885C>T n.834C>T c.337C>T (p.His113Tyr) n.884C>T | dbSNP gnomAD v4 |
| 1 | g.2406727G>C | CA337984982 | PEX10 | c.829C>G (p.His277Asp) c.769C>G (p.His257Asp) c.723C>G c.*135C>G (n.*135C>G) c.826C>G (p.His276Asp) c.394C>G (p.His132Asp) n.885C>G n.834C>G c.337C>G (p.His113Asp) n.884C>G | |
| 1 | g.2406727G= | CA1149570924 | PEX10 | c.829C= (p.His277=) c.769C= (p.His257=) c.723C= c.*135C= (n.*135C=) c.826C= (p.His276=) c.394C= (p.His132=) n.885C= n.834C= c.337C= (p.His113=) n.884C= | |
| 1 | g.2406727G>T | CA337984986 | PEX10 | c.829C>A (p.His277Asn) c.769C>A (p.His257Asn) c.723C>A c.*135C>A (n.*135C>A) c.826C>A (p.His276Asn) c.394C>A (p.His132Asn) n.885C>A n.834C>A c.337C>A (p.His113Asn) n.884C>A | |
| 1 | g.2406728A= | CA1143596959 | PEX10 | c.828T= (p.Ser276=) c.768T= (p.Ser256=) c.722T= c.*134T= (n.*134T=) c.825T= (p.Ser275=) c.393T= (p.Ser131=) n.884T= n.833T= c.336T= (p.Ser112=) n.883T= | |
| 1 | g.2406728A>C | CA16942971 | PEX10 | c.828T>G (p.Ser276=) c.768T>G (p.Ser256=) c.722T>G c.*134T>G (n.*134T>G) c.825T>G (p.Ser275=) c.393T>G (p.Ser131=) n.884T>G n.833T>G c.336T>G (p.Ser112=) n.883T>G | ClinVar dbSNP gnomAD v2 |
| 1 | g.2406728A>G | CA415775453 | PEX10 | c.828T>C (p.Ser276=) c.768T>C (p.Ser256=) c.722T>C c.*134T>C (n.*134T>C) c.825T>C (p.Ser275=) c.393T>C (p.Ser131=) n.884T>C n.833T>C c.336T>C (p.Ser112=) n.883T>C | |
| 1 | g.2406728A>T | CA415775454 | PEX10 | c.828T>A (p.Ser276=) c.768T>A (p.Ser256=) c.722T>A c.*134T>A (n.*134T>A) c.825T>A (p.Ser275=) c.393T>A (p.Ser131=) n.884T>A n.833T>A c.336T>A (p.Ser112=) n.883T>A | ClinVar dbSNP |
| 1 | g.2406729G>A | CA337984988 | PEX10 | c.827C>T (p.Ser276Phe) c.767C>T (p.Ser256Phe) c.721C>T c.*133C>T (n.*133C>T) c.824C>T (p.Ser275Phe) c.392C>T (p.Ser131Phe) n.883C>T n.832C>T c.335C>T (p.Ser112Phe) n.882C>T | |
| 1 | g.2406729G>C | CA337984995 | PEX10 | c.827C>G (p.Ser276Cys) c.767C>G (p.Ser256Cys) c.721C>G c.*133C>G (n.*133C>G) c.824C>G (p.Ser275Cys) c.392C>G (p.Ser131Cys) n.883C>G n.832C>G c.335C>G (p.Ser112Cys) n.882C>G | |
| 1 | g.2406729G>T | CA337984997 | PEX10 | c.827C>A (p.Ser276Tyr) c.767C>A (p.Ser256Tyr) c.721C>A c.*133C>A (n.*133C>A) c.824C>A (p.Ser275Tyr) c.392C>A (p.Ser131Tyr) n.883C>A n.832C>A c.335C>A (p.Ser112Tyr) n.882C>A | gnomAD v4 |
| 1 | g.2406730A= | CA1144606864 | PEX10 | c.826T= (p.Ser276=) c.766T= (p.Ser256=) c.720T= c.*132T= (n.*132T=) c.823T= (p.Ser275=) c.391T= (p.Ser131=) n.882T= n.831T= c.334T= (p.Ser112=) n.881T= | |
| 1 | g.2406730A>C | CA337984999 | PEX10 | c.826T>G (p.Ser276Ala) c.766T>G (p.Ser256Ala) c.720T>G c.*132T>G (n.*132T>G) c.823T>G (p.Ser275Ala) c.391T>G (p.Ser131Ala) n.882T>G n.831T>G c.334T>G (p.Ser112Ala) n.881T>G | |
| 1 | g.2406730A>G | CA538042 | PEX10 | c.826T>C (p.Ser276Pro) c.766T>C (p.Ser256Pro) c.720T>C c.*132T>C (n.*132T>C) c.823T>C (p.Ser275Pro) c.391T>C (p.Ser131Pro) n.882T>C n.831T>C c.334T>C (p.Ser112Pro) n.881T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2406730A>T | CA16942974 | PEX10 | c.826T>A (p.Ser276Thr) c.766T>A (p.Ser256Thr) c.720T>A c.*132T>A (n.*132T>A) c.823T>A (p.Ser275Thr) c.391T>A (p.Ser131Thr) n.882T>A n.831T>A c.334T>A (p.Ser112Thr) n.881T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406731C>A | CA415775455 | PEX10 | c.825G>T (p.Leu275=) c.765G>T (p.Leu255=) c.719G>T c.*131G>T (n.*131G>T) c.822G>T (p.Leu274=) c.390G>T (p.Leu130=) n.881G>T n.830G>T c.333G>T (p.Leu111=) n.880G>T | |
| 1 | g.2406731C= | CA1141723469 | PEX10 | c.825G= (p.Leu275=) c.765G= (p.Leu255=) c.719G= c.*131G= (n.*131G=) c.822G= (p.Leu274=) c.390G= (p.Leu130=) n.881G= n.830G= c.333G= (p.Leu111=) n.880G= |