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.17027735_17027749delinsTAGGGACTAATGACC | CA1156080144 | SDHB | c.369_369+14delinsGGTCATTAGTCCCTA c.498_498+14delinsGGTCATTAGTCCCTA c.540_540+14delinsGGTCATTAGTCCCTA n.457_471delinsGGTCATTAGTCCCTA n.474_474+14delinsGGTCATTAGTCCCTA | |
| 1 | g.17027738_17027751del | CA658656888 | SDHB | c.369_369+13del c.498_498+13del c.540_540+13del n.457_470del n.474_474+13del | ClinVar dbSNP |
| 1 | g.17027742_17027748del | CA10577674 | SDHB | c.369+4_369+10del (n.369+4_369+10del) c.498+4_498+10del (n.498+4_498+10del) c.540+4_540+10del (n.540+4_540+10del) n.461_467del n.474+4_474+10del | ClinVar dbSNP |
| 1 | g.17027748C>A | CA338272389 | SDHB | c.369+1G>T (n.369+1G>T) c.498+1G>T (n.498+1G>T) c.540+1G>T (n.540+1G>T) n.458G>T n.474+1G>T | |
| 1 | g.17027748C= | CA1156080154 | SDHB | c.369+1G= (n.369+1G=) c.498+1G= (n.498+1G=) c.540+1G= (n.540+1G=) n.458G= n.474+1G= | |
| 1 | g.17027748C>G | CA338272391 | SDHB | c.369+1G>C (n.369+1G>C) c.498+1G>C (n.498+1G>C) c.540+1G>C (n.540+1G>C) n.458G>C n.474+1G>C | |
| 1 | g.17027748C>T | CA338272394 | SDHB | c.369+1G>A (n.369+1G>A) c.498+1G>A (n.498+1G>A) c.540+1G>A (n.540+1G>A) n.458G>A n.474+1G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.17027750_17028737del | CA645509076 | SDHB | c.117_369+1del c.246_498+1del c.288_540+1del n.205_458del n.276_474+1del | ClinVar |
| 1 | g.17027749C>A | CA416085614 | SDHB | c.369G>T (p.Leu123=) c.498G>T (p.Leu166=) c.540G>T (p.Leu180=) n.457G>T n.474G>T | |
| 1 | g.17027749C= | CA1144324514 | SDHB | c.369G= (p.Leu123=) c.498G= (p.Leu166=) c.540G= (p.Leu180=) n.457G= n.474G= | |
| 1 | g.17027749C>G | CA416085618 | SDHB | c.369G>C (p.Leu123=) c.498G>C (p.Leu166=) c.540G>C (p.Leu180=) n.457G>C n.474G>C | |
| 1 | g.17027749C>T | CA089647 | SDHB | c.369G>A (p.Leu123=) c.498G>A (p.Leu166=) c.540G>A (p.Leu180=) n.457G>A n.474G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17027750A= | CA1156080155 | SDHB | c.368T= (p.Leu123=) c.497T= (p.Leu166=) c.539T= (p.Leu180=) n.456T= n.473T= | |
| 1 | g.17027750A>C | CA338272397 | SDHB | c.368T>G (p.Leu123Arg) c.497T>G (p.Leu166Arg) c.539T>G (p.Leu180Arg) n.456T>G n.473T>G | |
| 1 | g.17027750A>G | CA338272400 | SDHB | c.368T>C (p.Leu123Pro) c.497T>C (p.Leu166Pro) c.539T>C (p.Leu180Pro) n.456T>C n.473T>C | ClinVar dbSNP |
| 1 | g.17027750A>T | CA338272404 | SDHB | c.368T>A (p.Leu123Gln) c.497T>A (p.Leu166Gln) c.539T>A (p.Leu180Gln) n.456T>A n.473T>A | |
| 1 | g.17027751G>A | CA416085630 | SDHB | c.367C>T (p.Leu123=) c.496C>T (p.Leu166=) c.538C>T (p.Leu180=) n.455C>T n.472C>T | |
| 1 | g.17027751G>C | CA338272407 | SDHB | c.367C>G (p.Leu123Val) c.496C>G (p.Leu166Val) c.538C>G (p.Leu180Val) n.455C>G n.472C>G | |
| 1 | g.17027751G= | CA1156080156 | SDHB | c.367C= (p.Leu123=) c.496C= (p.Leu166=) c.538C= (p.Leu180=) n.455C= n.472C= | |
| 1 | g.17027751G>T | CA338272409 | SDHB | c.367C>A (p.Leu123Met) c.496C>A (p.Leu166Met) c.538C>A (p.Leu180Met) n.455C>A n.472C>A | gnomAD v4 |
| 1 | g.17027752T>A | CA338272412 | SDHB | c.366A>T (p.Lys122Asn) c.495A>T (p.Lys165Asn) c.537A>T (p.Lys179Asn) n.454A>T n.471A>T | |
| 1 | g.17027752T>C | CA416085645 | SDHB | c.366A>G (p.Lys122=) c.495A>G (p.Lys165=) c.537A>G (p.Lys179=) n.454A>G n.471A>G | ClinVar gnomAD v4 |
| 1 | g.17027752T>G | CA338272415 | SDHB | c.366A>C (p.Lys122Asn) c.495A>C (p.Lys165Asn) c.537A>C (p.Lys179Asn) n.454A>C n.471A>C | |
| 1 | g.17027754dup | CA658820982 | SDHB | c.366dup (p.Leu123ThrfsTer14) c.495dup (p.Leu166ThrfsTer14) c.537dup (p.Leu180ThrfsTer14) c.366dup (p.Leu123ThrfsTer?) n.454dup n.471dup | ClinVar dbSNP |
| 1 | g.17027753T>A | CA338272421 | SDHB | c.365A>T (p.Lys122Ile) c.494A>T (p.Lys165Ile) c.536A>T (p.Lys179Ile) n.453A>T n.470A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17027753T>C | CA338272419 | SDHB | c.365A>G (p.Lys122Arg) c.494A>G (p.Lys165Arg) c.536A>G (p.Lys179Arg) n.453A>G n.470A>G | |
| 1 | g.17027753T>G | CA338272416 | SDHB | c.365A>C (p.Lys122Thr) c.494A>C (p.Lys165Thr) c.536A>C (p.Lys179Thr) n.453A>C n.470A>C | |
| 1 | g.17027753T= | CA1156080157 | SDHB | c.365A= (p.Lys122=) c.494A= (p.Lys165=) c.536A= (p.Lys179=) n.453A= n.470A= | |
| 1 | g.17027754T>A | CA338272424 | SDHB | c.364A>T (p.Lys122Ter) c.493A>T (p.Lys165Ter) c.535A>T (p.Lys179Ter) n.452A>T n.469A>T | |
| 1 | g.17027754T>C | CA338272429 | SDHB | c.364A>G (p.Lys122Glu) c.493A>G (p.Lys165Glu) c.535A>G (p.Lys179Glu) n.452A>G n.469A>G | |
| 1 | g.17027754T>G | CA338272427 | SDHB | c.364A>C (p.Lys122Gln) c.493A>C (p.Lys165Gln) c.535A>C (p.Lys179Gln) n.452A>C n.469A>C | |
| 1 | g.17027755C>A | CA338272431 | SDHB | c.363G>T (p.Glu121Asp) c.492G>T (p.Glu164Asp) c.534G>T (p.Glu178Asp) n.451G>T n.468G>T | ClinVar dbSNP |
| 1 | g.17027755C= | CA1156080158 | SDHB | c.363G= (p.Glu121=) c.492G= (p.Glu164=) c.534G= (p.Glu178=) n.451G= n.468G= | |
| 1 | g.17027755C>G | CA338272433 | SDHB | c.363G>C (p.Glu121Asp) c.492G>C (p.Glu164Asp) c.534G>C (p.Glu178Asp) n.451G>C n.468G>C | |
| 1 | g.17027755C>T | CA416085665 | SDHB | c.363G>A (p.Glu121=) c.492G>A (p.Glu164=) c.534G>A (p.Glu178=) n.451G>A n.468G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.17027756T>A | CA338272434 | SDHB | c.362A>T (p.Glu121Val) c.491A>T (p.Glu164Val) c.533A>T (p.Glu178Val) n.450A>T n.467A>T | ClinVar dbSNP |
| 1 | g.17027756T>C | CA338272439 | SDHB | c.362A>G (p.Glu121Gly) c.491A>G (p.Glu164Gly) c.533A>G (p.Glu178Gly) n.450A>G n.467A>G | |
| 1 | g.17027756T>G | CA338272436 | SDHB | c.362A>C (p.Glu121Ala) c.491A>C (p.Glu164Ala) c.533A>C (p.Glu178Ala) n.450A>C n.467A>C | |
| 1 | g.17027757C>A | CA338272447 | SDHB | c.361G>T (p.Glu121Ter) c.490G>T (p.Glu164Ter) c.532G>T (p.Glu178Ter) n.449G>T n.466G>T | |
| 1 | g.17027757C= | CA1156080159 | SDHB | c.361G= (p.Glu121=) c.490G= (p.Glu164=) c.532G= (p.Glu178=) n.449G= n.466G= | |
| 1 | g.17027757C>G | CA338272453 | SDHB | c.361G>C (p.Glu121Gln) c.490G>C (p.Glu164Gln) c.532G>C (p.Glu178Gln) n.449G>C n.466G>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.17027757C>T | CA338272450 | SDHB | c.361G>A (p.Glu121Lys) c.490G>A (p.Glu164Lys) c.532G>A (p.Glu178Lys) n.449G>A n.466G>A | |
| 1 | g.17027758A>C | CA416085678 | SDHB | c.360T>G (p.Arg120=) c.489T>G (p.Arg163=) c.531T>G (p.Arg177=) n.448T>G n.465T>G | gnomAD v4 |
| 1 | g.17027758A>G | CA416085681 | SDHB | c.360T>C (p.Arg120=) c.489T>C (p.Arg163=) c.531T>C (p.Arg177=) n.448T>C n.465T>C | |
| 1 | g.17027758A>T | CA416085682 | SDHB | c.360T>A (p.Arg120=) c.489T>A (p.Arg163=) c.531T>A (p.Arg177=) n.448T>A n.465T>A | |
| 1 | g.17027759C>A | CA338272456 | SDHB | c.359G>T (p.Arg120Leu) c.488G>T (p.Arg163Leu) c.530G>T (p.Arg177Leu) n.447G>T n.464G>T | ClinVar dbSNP |
| 1 | g.17027759C= | CA1142363913 | SDHB | c.359G= (p.Arg120=) c.488G= (p.Arg163=) c.530G= (p.Arg177=) n.447G= n.464G= | |
| 1 | g.17027759C>G | CA338272458 | SDHB | c.359G>C (p.Arg120Pro) c.488G>C (p.Arg163Pro) c.530G>C (p.Arg177Pro) n.447G>C n.464G>C | |
| 1 | g.17027759C>T | CA089641 | SDHB | c.359G>A (p.Arg120His) c.488G>A (p.Arg163His) c.530G>A (p.Arg177His) n.447G>A n.464G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17027760G>A | CA089640 | SDHB | c.358C>T (p.Arg120Cys) c.487C>T (p.Arg163Cys) c.529C>T (p.Arg177Cys) n.446C>T n.463C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |