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 |
|---|---|---|---|---|---|
| 19 | g.15184295_15184450del | CA340891 | NOTCH3 | c.2412_2566+1del c.2407+457_2407+612del (n.2407+457_2407+612del) c.2410+457_2410+612del (n.2410+457_2410+612del) | |
| 19 | g.15184334C>A | CA404519251 | NOTCH3 | c.2527G>T (p.Gly843Cys) c.2407+572G>T (n.2407+572G>T) c.2410+572G>T (n.2410+572G>T) | |
| 19 | g.15184334C>G | CA404519257 | NOTCH3 | c.2527G>C (p.Gly843Arg) c.2407+572G>C (n.2407+572G>C) c.2410+572G>C (n.2410+572G>C) | gnomAD v4 |
| 19 | g.15184334C>T | CA404519254 | NOTCH3 | c.2527G>A (p.Gly843Ser) c.2407+572G>A (n.2407+572G>A) c.2410+572G>A (n.2410+572G>A) | |
| 19 | g.15184335A= | CA2324746280 | NOTCH3 | c.2526T= (p.Thr842=) c.2407+571T= (n.2407+571T=) c.2410+571T= (n.2410+571T=) | |
| 19 | g.15184335A>C | CA505826122 | NOTCH3 | c.2526T>G (p.Thr842=) c.2407+571T>G (n.2407+571T>G) c.2410+571T>G (n.2410+571T>G) | |
| 19 | g.15184335A>G | CA505826123 | NOTCH3 | c.2526T>C (p.Thr842=) c.2407+571T>C (n.2407+571T>C) c.2410+571T>C (n.2410+571T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15184335A>T | CA505826124 | NOTCH3 | c.2526T>A (p.Thr842=) c.2407+571T>A (n.2407+571T>A) c.2410+571T>A (n.2410+571T>A) | |
| 19 | g.15184336G>A | CA404519259 | NOTCH3 | c.2525C>T (p.Thr842Ile) c.2407+570C>T (n.2407+570C>T) c.2410+570C>T (n.2410+570C>T) | dbSNP gnomAD v4 |
| 19 | g.15184336G>C | CA404519264 | NOTCH3 | c.2525C>G (p.Thr842Ser) c.2407+570C>G (n.2407+570C>G) c.2410+570C>G (n.2410+570C>G) | ClinVar dbSNP |
| 19 | g.15184336G= | CA2324746281 | NOTCH3 | c.2525C= (p.Thr842=) c.2407+570C= (n.2407+570C=) c.2410+570C= (n.2410+570C=) | |
| 19 | g.15184336G>T | CA404519261 | NOTCH3 | c.2525C>A (p.Thr842Asn) c.2407+570C>A (n.2407+570C>A) c.2410+570C>A (n.2410+570C>A) | |
| 19 | g.15184337T>A | CA404519266 | NOTCH3 | c.2524A>T (p.Thr842Ser) c.2407+569A>T (n.2407+569A>T) c.2410+569A>T (n.2410+569A>T) | |
| 19 | g.15184337T>C | CA404519281 | NOTCH3 | c.2524A>G (p.Thr842Ala) c.2407+569A>G (n.2407+569A>G) c.2410+569A>G (n.2410+569A>G) | gnomAD v4 |
| 19 | g.15184337T>G | CA404519290 | NOTCH3 | c.2524A>C (p.Thr842Pro) c.2407+569A>C (n.2407+569A>C) c.2410+569A>C (n.2410+569A>C) | |
| 19 | g.15184338G>A | CA505826125 | NOTCH3 | c.2523C>T (p.Tyr841=) c.2407+568C>T (n.2407+568C>T) c.2410+568C>T (n.2410+568C>T) | dbSNP |
| 19 | g.15184338G>C | CA404519294 | NOTCH3 | c.2523C>G (p.Tyr841Ter) c.2407+568C>G (n.2407+568C>G) c.2410+568C>G (n.2410+568C>G) | |
| 19 | g.15184338G>T | CA404519296 | NOTCH3 | c.2523C>A (p.Tyr841Ter) c.2407+568C>A (n.2407+568C>A) c.2410+568C>A (n.2410+568C>A) | |
| 19 | g.15184339T>A | CA404519297 | NOTCH3 | c.2522A>T (p.Tyr841Phe) c.2407+567A>T (n.2407+567A>T) c.2410+567A>T (n.2410+567A>T) | |
| 19 | g.15184339T>C | CA404519299 | NOTCH3 | c.2522A>G (p.Tyr841Cys) c.2407+567A>G (n.2407+567A>G) c.2410+567A>G (n.2410+567A>G) | |
| 19 | g.15184339T>G | CA404519303 | NOTCH3 | c.2522A>C (p.Tyr841Ser) c.2407+567A>C (n.2407+567A>C) c.2410+567A>C (n.2410+567A>C) | |
| 19 | g.15184340A= | CA2324746282 | NOTCH3 | c.2521T= (p.Tyr841=) c.2407+566T= (n.2407+566T=) c.2410+566T= (n.2410+566T=) | |
| 19 | g.15184340A>C | CA404519311 | NOTCH3 | c.2521T>G (p.Tyr841Asp) c.2407+566T>G (n.2407+566T>G) c.2410+566T>G (n.2410+566T>G) | dbSNP |
| 19 | g.15184340A>G | CA404519314 | NOTCH3 | c.2521T>C (p.Tyr841His) c.2407+566T>C (n.2407+566T>C) c.2410+566T>C (n.2410+566T>C) | |
| 19 | g.15184340A>T | CA404519316 | NOTCH3 | c.2521T>A (p.Tyr841Asn) c.2407+566T>A (n.2407+566T>A) c.2410+566T>A (n.2410+566T>A) | |
| 19 | g.15184341C>A | CA505826126 | NOTCH3 | c.2520G>T (p.Gly840=) c.2407+565G>T (n.2407+565G>T) c.2410+565G>T (n.2410+565G>T) | gnomAD v4 |
| 19 | g.15184341C>G | CA505826127 | NOTCH3 | c.2520G>C (p.Gly840=) c.2407+565G>C (n.2407+565G>C) c.2410+565G>C (n.2410+565G>C) | |
| 19 | g.15184341C>T | CA505826128 | NOTCH3 | c.2520G>A (p.Gly840=) c.2407+565G>A (n.2407+565G>A) c.2410+565G>A (n.2410+565G>A) | dbSNP |
| 19 | g.15184342C>A | CA404519333 | NOTCH3 | c.2519G>T (p.Gly840Val) c.2407+564G>T (n.2407+564G>T) c.2410+564G>T (n.2410+564G>T) | |
| 19 | g.15184342C= | CA2324746283 | NOTCH3 | c.2519G= (p.Gly840=) c.2407+564G= (n.2407+564G=) c.2410+564G= (n.2410+564G=) | |
| 19 | g.15184342C>G | CA404519328 | NOTCH3 | c.2519G>C (p.Gly840Ala) c.2407+564G>C (n.2407+564G>C) c.2410+564G>C (n.2410+564G>C) | |
| 19 | g.15184342C>T | CA9263347 | NOTCH3 | c.2519G>A (p.Gly840Glu) c.2407+564G>A (n.2407+564G>A) c.2410+564G>A (n.2410+564G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15184343C>A | CA404519339 | NOTCH3 | c.2518G>T (p.Gly840Trp) c.2407+563G>T (n.2407+563G>T) c.2410+563G>T (n.2410+563G>T) | dbSNP |
| 19 | g.15184343C>G | CA404519341 | NOTCH3 | c.2518G>C (p.Gly840Arg) c.2407+563G>C (n.2407+563G>C) c.2410+563G>C (n.2410+563G>C) | gnomAD v4 |
| 19 | g.15184343C>T | CA404519343 | NOTCH3 | c.2518G>A (p.Gly840Arg) c.2407+563G>A (n.2407+563G>A) c.2410+563G>A (n.2410+563G>A) | |
| 19 | g.15184344T>A | CA505826129 | NOTCH3 | c.2517A>T (p.Gly839=) c.2407+562A>T (n.2407+562A>T) c.2410+562A>T (n.2410+562A>T) | |
| 19 | g.15184344T>C | CA505826130 | NOTCH3 | c.2517A>G (p.Gly839=) c.2407+562A>G (n.2407+562A>G) c.2410+562A>G (n.2410+562A>G) | gnomAD v4 |
| 19 | g.15184344T>G | CA505826131 | NOTCH3 | c.2517A>C (p.Gly839=) c.2407+562A>C (n.2407+562A>C) c.2410+562A>C (n.2410+562A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15184344T= | CA2324746284 | NOTCH3 | c.2517A= (p.Gly839=) c.2407+562A= (n.2407+562A=) c.2410+562A= (n.2410+562A=) | |
| 19 | g.15184345C>A | CA404519346 | NOTCH3 | c.2516G>T (p.Gly839Val) c.2407+561G>T (n.2407+561G>T) c.2410+561G>T (n.2410+561G>T) | |
| 19 | g.15184345C>G | CA404519347 | NOTCH3 | c.2516G>C (p.Gly839Ala) c.2407+561G>C (n.2407+561G>C) c.2410+561G>C (n.2410+561G>C) | |
| 19 | g.15184345C>T | CA404519348 | NOTCH3 | c.2516G>A (p.Gly839Glu) c.2407+561G>A (n.2407+561G>A) c.2410+561G>A (n.2410+561G>A) | |
| 19 | g.15184346C>A | CA404519349 | NOTCH3 | c.2515G>T (p.Gly839Ter) c.2407+560G>T (n.2407+560G>T) c.2410+560G>T (n.2410+560G>T) | |
| 19 | g.15184346C>G | CA404519350 | NOTCH3 | c.2515G>C (p.Gly839Arg) c.2407+560G>C (n.2407+560G>C) c.2410+560G>C (n.2410+560G>C) | |
| 19 | g.15184346C>T | CA404519353 | NOTCH3 | c.2515G>A (p.Gly839Arg) c.2407+560G>A (n.2407+560G>A) c.2410+560G>A (n.2410+560G>A) | |
| 19 | g.15184347A>C | CA404519354 | NOTCH3 | c.2514T>G (p.His838Gln) c.2407+559T>G (n.2407+559T>G) c.2410+559T>G (n.2410+559T>G) | |
| 19 | g.15184347A>G | CA505826132 | NOTCH3 | c.2514T>C (p.His838=) c.2407+559T>C (n.2407+559T>C) c.2410+559T>C (n.2410+559T>C) | |
| 19 | g.15184347A>T | CA404519355 | NOTCH3 | c.2514T>A (p.His838Gln) c.2407+559T>A (n.2407+559T>A) c.2410+559T>A (n.2410+559T>A) | |
| 19 | g.15184348T>A | CA404519359 | NOTCH3 | c.2513A>T (p.His838Leu) c.2407+558A>T (n.2407+558A>T) c.2410+558A>T (n.2410+558A>T) | gnomAD v4 |
| 19 | g.15184348T>C | CA404519357 | NOTCH3 | c.2513A>G (p.His838Arg) c.2407+558A>G (n.2407+558A>G) c.2410+558A>G (n.2410+558A>G) | gnomAD v4 |