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 |
|---|---|---|---|---|---|
| 16 | g.30987950_30988018del | CA2632795900 | HSD3B7 | c.877_945del (p.Trp293_Tyr315del) c.*123_*191del (n.*123_*191del) | gnomAD v4 |
| 16 | g.30987957_30987972del | CA2632795901 | HSD3B7 | c.884_899del (p.Leu295ProfsTer20) c.*130_*145del (n.*130_*145del) | gnomAD v4 |
| 16 | g.30987958_30987973dup | CA976327528 | HSD3B7 | c.885_900dup (p.Leu301GlyfsTer?) c.*131_*146dup (n.*131_*146dup) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30987963del | CA10605605 | HSD3B7 | c.890del (p.Phe297SerfsTer23) c.*136del (n.*136del) | ClinVar dbSNP |
| 16 | g.30987963T>A | CA395643495 | HSD3B7 | c.890T>A (p.Phe297Tyr) c.*136T>A (n.*136T>A) | |
| 16 | g.30987963T>C | CA395643498 | HSD3B7 | c.890T>C (p.Phe297Ser) c.*136T>C (n.*136T>C) | |
| 16 | g.30987963T>G | CA395643503 | HSD3B7 | c.890T>G (p.Phe297Cys) c.*136T>G (n.*136T>G) | |
| 16 | g.30987964C>A | CA395643504 | HSD3B7 | c.891C>A (p.Phe297Leu) c.*137C>A (n.*137C>A) | |
| 16 | g.30987964C= | CA2216825514 | HSD3B7 | c.891C= (p.Phe297=) c.*137C= (n.*137C=) | |
| 16 | g.30987964C>G | CA395643506 | HSD3B7 | c.891C>G (p.Phe297Leu) c.*137C>G (n.*137C>G) | dbSNP |
| 16 | g.30987964C>T | CA494921028 | HSD3B7 | c.891C>T (p.Phe297=) c.*137C>T (n.*137C>T) | |
| 16 | g.30987965C>A | CA395643512 | HSD3B7 | c.892C>A (p.Leu298Met) c.*138C>A (n.*138C>A) | |
| 16 | g.30987965C>G | CA395643509 | HSD3B7 | c.892C>G (p.Leu298Val) c.*138C>G (n.*138C>G) | |
| 16 | g.30987965C>T | CA494921029 | HSD3B7 | c.892C>T (p.Leu298=) c.*138C>T (n.*138C>T) | |
| 16 | g.30987966T>A | CA395643516 | HSD3B7 | c.893T>A (p.Leu298Gln) c.*139T>A (n.*139T>A) | |
| 16 | g.30987966T>C | CA395643519 | HSD3B7 | c.893T>C (p.Leu298Pro) c.*139T>C (n.*139T>C) | |
| 16 | g.30987966T>G | CA395643522 | HSD3B7 | c.893T>G (p.Leu298Arg) c.*139T>G (n.*139T>G) | |
| 16 | g.30987967G>A | CA494921030 | HSD3B7 | c.894G>A (p.Leu298=) c.*140G>A (n.*140G>A) | |
| 16 | g.30987967G>C | CA494921032 | HSD3B7 | c.894G>C (p.Leu298=) c.*140G>C (n.*140G>C) | |
| 16 | g.30987967G>T | CA494921031 | HSD3B7 | c.894G>T (p.Leu298=) c.*140G>T (n.*140G>T) | |
| 16 | g.30987968G>A | CA395643527 | HSD3B7 | c.895G>A (p.Ala299Thr) c.*141G>A (n.*141G>A) | |
| 16 | g.30987968G>C | CA395643529 | HSD3B7 | c.895G>C (p.Ala299Pro) c.*141G>C (n.*141G>C) | |
| 16 | g.30987968G>T | CA395643531 | HSD3B7 | c.895G>T (p.Ala299Ser) c.*141G>T (n.*141G>T) | |
| 16 | g.30987969C>A | CA395643534 | HSD3B7 | c.896C>A (p.Ala299Asp) c.*142C>A (n.*142C>A) | |
| 16 | g.30987969C>G | CA395643537 | HSD3B7 | c.896C>G (p.Ala299Gly) c.*142C>G (n.*142C>G) | |
| 16 | g.30987969C>T | CA395643539 | HSD3B7 | c.896C>T (p.Ala299Val) c.*142C>T (n.*142C>T) | |
| 16 | g.30987970T>A | CA494921033 | HSD3B7 | c.897T>A (p.Ala299=) c.*143T>A (n.*143T>A) | |
| 16 | g.30987970T>C | CA494921034 | HSD3B7 | c.897T>C (p.Ala299=) c.*143T>C (n.*143T>C) | |
| 16 | g.30987970T>G | CA494921035 | HSD3B7 | c.897T>G (p.Ala299=) c.*143T>G (n.*143T>G) | |
| 16 | g.30987971G>A | CA395643542 | HSD3B7 | c.898G>A (p.Ala300Thr) c.*144G>A (n.*144G>A) | dbSNP |
| 16 | g.30987971G>C | CA395643545 | HSD3B7 | c.898G>C (p.Ala300Pro) c.*144G>C (n.*144G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30987971G= | CA2216825515 | HSD3B7 | c.898G= (p.Ala300=) c.*144G= (n.*144G=) | |
| 16 | g.30987971G>T | CA395643546 | HSD3B7 | c.898G>T (p.Ala300Ser) c.*144G>T (n.*144G>T) | gnomAD v4 |
| 16 | g.30987972C>A | CA395643551 | HSD3B7 | c.899C>A (p.Ala300Asp) c.*145C>A (n.*145C>A) | |
| 16 | g.30987972C= | CA2216825520 | HSD3B7 | c.899C= (p.Ala300=) c.*145C= (n.*145C=) | |
| 16 | g.30987972C>G | CA395643553 | HSD3B7 | c.899C>G (p.Ala300Gly) c.*145C>G (n.*145C>G) | |
| 16 | g.30987972C>T | CA395643549 | HSD3B7 | c.899C>T (p.Ala300Val) c.*145C>T (n.*145C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30987973C>A | CA494921036 | HSD3B7 | c.900C>A (p.Ala300=) c.*146C>A (n.*146C>A) | |
| 16 | g.30987973C>G | CA494921037 | HSD3B7 | c.900C>G (p.Ala300=) c.*146C>G (n.*146C>G) | |
| 16 | g.30987973C>T | CA494921038 | HSD3B7 | c.900C>T (p.Ala300=) c.*146C>T (n.*146C>T) | |
| 16 | g.30987974C>A | CA395643557 | HSD3B7 | c.901C>A (p.Leu301Ile) c.*147C>A (n.*147C>A) | |
| 16 | g.30987974C>G | CA395643559 | HSD3B7 | c.901C>G (p.Leu301Val) c.*147C>G (n.*147C>G) | |
| 16 | g.30987974C>T | CA395643562 | HSD3B7 | c.901C>T (p.Leu301Phe) c.*147C>T (n.*147C>T) | gnomAD v4 |
| 16 | g.30987975T>A | CA395643567 | HSD3B7 | c.902T>A (p.Leu301His) c.*148T>A (n.*148T>A) | |
| 16 | g.30987975T>C | CA395643570 | HSD3B7 | c.902T>C (p.Leu301Pro) c.*148T>C (n.*148T>C) | gnomAD v4 |
| 16 | g.30987975T>G | CA395643573 | HSD3B7 | c.902T>G (p.Leu301Arg) c.*148T>G (n.*148T>G) | |
| 16 | g.30987976C>A | CA494921040 | HSD3B7 | c.903C>A (p.Leu301=) c.*149C>A (n.*149C>A) | |
| 16 | g.30987976C>G | CA494921041 | HSD3B7 | c.903C>G (p.Leu301=) c.*149C>G (n.*149C>G) | |
| 16 | g.30987976C>T | CA494921039 | HSD3B7 | c.903C>T (p.Leu301=) c.*149C>T (n.*149C>T) | |
| 16 | g.30987977A>C | CA395643576 | HSD3B7 | c.904A>C (p.Asn302His) c.*150A>C (n.*150A>C) |