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 |
|---|---|---|---|---|---|
| 10 | g.110780846_110780907del | CA335579 | RBM20 | c.237_298del (p.Asn80ProfsTer?) c.-148_-87del (n.-148_-87del) c.72_133del (p.Asn25ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.110780872G>A | CA378379263 | RBM20 | c.263G>A (p.Ser88Asn) c.-122G>A (n.-122G>A) c.98G>A (p.Ser33Asn) | dbSNP gnomAD v2 |
| 10 | g.110780872G>C | CA378379265 | RBM20 | c.263G>C (p.Ser88Thr) c.-122G>C (n.-122G>C) c.98G>C (p.Ser33Thr) | |
| 10 | g.110780872G>T | CA378379267 | RBM20 | c.263G>T (p.Ser88Ile) c.-122G>T (n.-122G>T) c.98G>T (p.Ser33Ile) | |
| 10 | g.110780873T>A | CA378379273 | RBM20 | c.264T>A (p.Ser88Arg) c.-121T>A (n.-121T>A) c.99T>A (p.Ser33Arg) | |
| 10 | g.110780873T>C | CA471506600 | RBM20 | c.264T>C (p.Ser88=) c.-121T>C (n.-121T>C) c.99T>C (p.Ser33=) | gnomAD v4 |
| 10 | g.110780873T>G | CA378379270 | RBM20 | c.264T>G (p.Ser88Arg) c.-121T>G (n.-121T>G) c.99T>G (p.Ser33Arg) | |
| 10 | g.110780874C>A | CA378379276 | RBM20 | c.265C>A (p.Leu89Ile) c.-120C>A (n.-120C>A) c.100C>A (p.Leu34Ile) | |
| 10 | g.110780874C>G | CA378379277 | RBM20 | c.265C>G (p.Leu89Val) c.-120C>G (n.-120C>G) c.100C>G (p.Leu34Val) | |
| 10 | g.110780874C>T | CA378379279 | RBM20 | c.265C>T (p.Leu89Phe) c.-120C>T (n.-120C>T) c.100C>T (p.Leu34Phe) | |
| 10 | g.110780875T>A | CA378379282 | RBM20 | c.266T>A (p.Leu89His) c.-119T>A (n.-119T>A) c.101T>A (p.Leu34His) | |
| 10 | g.110780875T>C | CA378379284 | RBM20 | c.266T>C (p.Leu89Pro) c.-119T>C (n.-119T>C) c.101T>C (p.Leu34Pro) | gnomAD v4 COSMIC |
| 10 | g.110780875T>G | CA378379287 | RBM20 | c.266T>G (p.Leu89Arg) c.-119T>G (n.-119T>G) c.101T>G (p.Leu34Arg) | |
| 10 | g.110780876C>A | CA471506603 | RBM20 | c.267C>A (p.Leu89=) c.-118C>A (n.-118C>A) c.102C>A (p.Leu34=) | |
| 10 | g.110780876C>G | CA471506604 | RBM20 | c.267C>G (p.Leu89=) c.-118C>G (n.-118C>G) c.102C>G (p.Leu34=) | |
| 10 | g.110780876C>T | CA471506605 | RBM20 | c.267C>T (p.Leu89=) c.-118C>T (n.-118C>T) c.102C>T (p.Leu34=) | |
| 10 | g.110780877C>A | CA378379290 | RBM20 | c.268C>A (p.Gln90Lys) c.-117C>A (n.-117C>A) c.103C>A (p.Gln35Lys) | |
| 10 | g.110780877C>G | CA378379292 | RBM20 | c.268C>G (p.Gln90Glu) c.-117C>G (n.-117C>G) c.103C>G (p.Gln35Glu) | |
| 10 | g.110780877C>T | CA378379294 | RBM20 | c.268C>T (p.Gln90Ter) c.-117C>T (n.-117C>T) c.103C>T (p.Gln35Ter) | |
| 10 | g.110780878A>C | CA378379298 | RBM20 | c.269A>C (p.Gln90Pro) c.-116A>C (n.-116A>C) c.104A>C (p.Gln35Pro) | |
| 10 | g.110780878A>G | CA378379299 | RBM20 | c.269A>G (p.Gln90Arg) c.-116A>G (n.-116A>G) c.104A>G (p.Gln35Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.110780878A>T | CA378379300 | RBM20 | c.269A>T (p.Gln90Leu) c.-116A>T (n.-116A>T) c.104A>T (p.Gln35Leu) | gnomAD v4 |
| 10 | g.110780879G>A | CA471506609 | RBM20 | c.270G>A (p.Gln90=) c.-115G>A (n.-115G>A) c.105G>A (p.Gln35=) | dbSNP |
| 10 | g.110780879G>C | CA378379302 | RBM20 | c.270G>C (p.Gln90His) c.-115G>C (n.-115G>C) c.105G>C (p.Gln35His) | |
| 10 | g.110780879G>T | CA378379304 | RBM20 | c.270G>T (p.Gln90His) c.-115G>T (n.-115G>T) c.105G>T (p.Gln35His) | gnomAD v4 |
| 10 | g.110780880C>A | CA378379307 | RBM20 | c.271C>A (p.Leu91Met) c.-114C>A (n.-114C>A) c.106C>A (p.Leu36Met) | gnomAD v4 |
| 10 | g.110780880C>G | CA378379309 | RBM20 | c.271C>G (p.Leu91Val) c.-114C>G (n.-114C>G) c.106C>G (p.Leu36Val) | |
| 10 | g.110780880C>T | CA471506610 | RBM20 | c.271C>T (p.Leu91=) c.-114C>T (n.-114C>T) c.106C>T (p.Leu36=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.110780881T>A | CA378379311 | RBM20 | c.272T>A (p.Leu91Gln) c.-113T>A (n.-113T>A) c.107T>A (p.Leu36Gln) | |
| 10 | g.110780881T>C | CA378379316 | RBM20 | c.272T>C (p.Leu91Pro) c.-113T>C (n.-113T>C) c.107T>C (p.Leu36Pro) | |
| 10 | g.110780881T>G | CA378379313 | RBM20 | c.272T>G (p.Leu91Arg) c.-113T>G (n.-113T>G) c.107T>G (p.Leu36Arg) | |
| 10 | g.110780882G>A | CA471506612 | RBM20 | c.273G>A (p.Leu91=) c.-112G>A (n.-112G>A) c.108G>A (p.Leu36=) | |
| 10 | g.110780882G>C | CA471506613 | RBM20 | c.273G>C (p.Leu91=) c.-112G>C (n.-112G>C) c.108G>C (p.Leu36=) | |
| 10 | g.110780882G>T | CA471506614 | RBM20 | c.273G>T (p.Leu91=) c.-112G>T (n.-112G>T) c.108G>T (p.Leu36=) | gnomAD v4 |
| 10 | g.110780883G>A | CA378379319 | RBM20 | c.274G>A (p.Ala92Thr) c.-111G>A (n.-111G>A) c.109G>A (p.Ala37Thr) | |
| 10 | g.110780883G>C | CA378379321 | RBM20 | c.274G>C (p.Ala92Pro) c.-111G>C (n.-111G>C) c.109G>C (p.Ala37Pro) | |
| 10 | g.110780883G>T | CA378379323 | RBM20 | c.274G>T (p.Ala92Ser) c.-111G>T (n.-111G>T) c.109G>T (p.Ala37Ser) | |
| 10 | g.110780888_110780904del | CA2610891275 | RBM20 | c.279_295del (p.Gln93HisfsTer?) c.-106_-90del (n.-106_-90del) c.114_130del (p.Gln38HisfsTer?) | gnomAD v4 |
| 10 | g.110780884C>A | CA378379326 | RBM20 | c.275C>A (p.Ala92Asp) c.-110C>A (n.-110C>A) c.110C>A (p.Ala37Asp) | |
| 10 | g.110780884C>G | CA378379328 | RBM20 | c.275C>G (p.Ala92Gly) c.-110C>G (n.-110C>G) c.110C>G (p.Ala37Gly) | COSMIC |
| 10 | g.110780884C>T | CA378379331 | RBM20 | c.275C>T (p.Ala92Val) c.-110C>T (n.-110C>T) c.110C>T (p.Ala37Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.110780885T>A | CA471506620 | RBM20 | c.276T>A (p.Ala92=) c.-109T>A (n.-109T>A) c.111T>A (p.Ala37=) | |
| 10 | g.110780885T>C | CA471506624 | RBM20 | c.276T>C (p.Ala92=) c.-109T>C (n.-109T>C) c.111T>C (p.Ala37=) | |
| 10 | g.110780885T>G | CA471506622 | RBM20 | c.276T>G (p.Ala92=) c.-109T>G (n.-109T>G) c.111T>G (p.Ala37=) | |
| 10 | g.110780886C>A | CA378379339 | RBM20 | c.277C>A (p.Gln93Lys) c.-108C>A (n.-108C>A) c.112C>A (p.Gln38Lys) | gnomAD v4 COSMIC |
| 10 | g.110780886C>G | CA378379333 | RBM20 | c.277C>G (p.Gln93Glu) c.-108C>G (n.-108C>G) c.112C>G (p.Gln38Glu) | |
| 10 | g.110780886C>T | CA378379336 | RBM20 | c.277C>T (p.Gln93Ter) c.-108C>T (n.-108C>T) c.112C>T (p.Gln38Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.110780887A>C | CA378379342 | RBM20 | c.278A>C (p.Gln93Pro) c.-107A>C (n.-107A>C) c.113A>C (p.Gln38Pro) | |
| 10 | g.110780887A>G | CA378379345 | RBM20 | c.278A>G (p.Gln93Arg) c.-107A>G (n.-107A>G) c.113A>G (p.Gln38Arg) | |
| 10 | g.110780887A>T | CA378379347 | RBM20 | c.278A>T (p.Gln93Leu) c.-107A>T (n.-107A>T) c.113A>T (p.Gln38Leu) |