Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.45293132T>G | CA2408185351 | UPK3A | c.572-49T>G (n.572-49T>G) c.209-49T>G (n.209-49T>G) c.578-49T>G (n.578-49T>G) c.215-49T>G (n.215-49T>G) | dbSNP |
22 | g.45293132T= | CA2408185350 | UPK3A | c.572-49T= (n.572-49T=) c.209-49T= (n.209-49T=) c.578-49T= (n.578-49T=) c.215-49T= (n.215-49T=) | |
22 | g.45293133G>A | CA2657267226 | UPK3A | c.572-48G>A (n.572-48G>A) c.209-48G>A (n.209-48G>A) c.578-48G>A (n.578-48G>A) c.215-48G>A (n.215-48G>A) | gnomAD v4 |
22 | g.45293133G>T | CA2657267227 | UPK3A | c.572-48G>T (n.572-48G>T) c.209-48G>T (n.209-48G>T) c.578-48G>T (n.578-48G>T) c.215-48G>T (n.215-48G>T) | gnomAD v4 |
22 | g.45293134A= | CA2408185352 | UPK3A | c.572-47A= (n.572-47A=) c.209-47A= (n.209-47A=) c.578-47A= (n.578-47A=) c.215-47A= (n.215-47A=) | |
22 | g.45293134A>G | CA2657267228 | UPK3A | c.572-47A>G (n.572-47A>G) c.209-47A>G (n.209-47A>G) c.578-47A>G (n.578-47A>G) c.215-47A>G (n.215-47A>G) | gnomAD v4 |
22 | g.45293134A>T | CA10284459 | UPK3A | c.572-47A>T (n.572-47A>T) c.209-47A>T (n.209-47A>T) c.578-47A>T (n.578-47A>T) c.215-47A>T (n.215-47A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293135G>C | CA2819158222 | UPK3A | c.572-46G>C (n.572-46G>C) c.209-46G>C (n.209-46G>C) c.578-46G>C (n.578-46G>C) c.215-46G>C (n.215-46G>C) | |
22 | g.45293135G>T | CA2657267229 | UPK3A | c.572-46G>T (n.572-46G>T) c.209-46G>T (n.209-46G>T) c.578-46G>T (n.578-46G>T) c.215-46G>T (n.215-46G>T) | gnomAD v4 |
22 | g.45293136G>A | CA2657267230 | UPK3A | c.572-45G>A (n.572-45G>A) c.209-45G>A (n.209-45G>A) c.578-45G>A (n.578-45G>A) c.215-45G>A (n.215-45G>A) | gnomAD v4 |
22 | g.45293136G>T | CA2657267231 | UPK3A | c.572-45G>T (n.572-45G>T) c.209-45G>T (n.209-45G>T) c.578-45G>T (n.578-45G>T) c.215-45G>T (n.215-45G>T) | gnomAD v4 |
22 | g.45293137G>A | CA10284460 | UPK3A | c.572-44G>A (n.572-44G>A) c.209-44G>A (n.209-44G>A) c.578-44G>A (n.578-44G>A) c.215-44G>A (n.215-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293137G= | CA2408185353 | UPK3A | c.572-44G= (n.572-44G=) c.209-44G= (n.209-44G=) c.578-44G= (n.578-44G=) c.215-44G= (n.215-44G=) | |
22 | g.45293137G>T | CA2657267232 | UPK3A | c.572-44G>T (n.572-44G>T) c.209-44G>T (n.209-44G>T) c.578-44G>T (n.578-44G>T) c.215-44G>T (n.215-44G>T) | gnomAD v4 |
22 | g.45293138T>G | CA2408185355 | UPK3A | c.572-43T>G (n.572-43T>G) c.209-43T>G (n.209-43T>G) c.578-43T>G (n.578-43T>G) c.215-43T>G (n.215-43T>G) | dbSNP |
22 | g.45293138T= | CA2408185354 | UPK3A | c.572-43T= (n.572-43T=) c.209-43T= (n.209-43T=) c.578-43T= (n.578-43T=) c.215-43T= (n.215-43T=) | |
22 | g.45293139G>C | CA2657267233 | UPK3A | c.572-42G>C (n.572-42G>C) c.209-42G>C (n.209-42G>C) c.578-42G>C (n.578-42G>C) c.215-42G>C (n.215-42G>C) | gnomAD v4 |
22 | g.45293139G>T | CA2657267234 | UPK3A | c.572-42G>T (n.572-42G>T) c.209-42G>T (n.209-42G>T) c.578-42G>T (n.578-42G>T) c.215-42G>T (n.215-42G>T) | gnomAD v4 |
22 | g.45293140G>T | CA2657267235 | UPK3A | c.572-41G>T (n.572-41G>T) c.209-41G>T (n.209-41G>T) c.578-41G>T (n.578-41G>T) c.215-41G>T (n.215-41G>T) | gnomAD v4 |
22 | g.45293142G>T | CA2657267236 | UPK3A | c.572-39G>T (n.572-39G>T) c.209-39G>T (n.209-39G>T) c.578-39G>T (n.578-39G>T) c.215-39G>T (n.215-39G>T) | gnomAD v4 |
22 | g.45293143C>A | CA2580688525 | UPK3A | c.572-38C>A (n.572-38C>A) c.209-38C>A (n.209-38C>A) c.578-38C>A (n.578-38C>A) c.215-38C>A (n.215-38C>A) | gnomAD v4 |
22 | g.45293143C= | CA2408185356 | UPK3A | c.572-38C= (n.572-38C=) c.209-38C= (n.209-38C=) c.578-38C= (n.578-38C=) c.215-38C= (n.215-38C=) | |
22 | g.45293143C>G | CA2580688526 | UPK3A | c.572-38C>G (n.572-38C>G) c.209-38C>G (n.209-38C>G) c.578-38C>G (n.578-38C>G) c.215-38C>G (n.215-38C>G) | |
22 | g.45293143C>T | CA10284461 | UPK3A | c.572-38C>T (n.572-38C>T) c.209-38C>T (n.209-38C>T) c.578-38C>T (n.578-38C>T) c.215-38C>T (n.215-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293144G>A | CA10284462 | UPK3A | c.572-37G>A (n.572-37G>A) c.209-37G>A (n.209-37G>A) c.578-37G>A (n.578-37G>A) c.215-37G>A (n.215-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293144G>C | CA325067047 | UPK3A | c.572-37G>C (n.572-37G>C) c.209-37G>C (n.209-37G>C) c.578-37G>C (n.578-37G>C) c.215-37G>C (n.215-37G>C) | dbSNP gnomAD v4 |
22 | g.45293144G= | CA2408185357 | UPK3A | c.572-37G= (n.572-37G=) c.209-37G= (n.209-37G=) c.578-37G= (n.578-37G=) c.215-37G= (n.215-37G=) | |
22 | g.45293144G>T | CA2657267237 | UPK3A | c.572-37G>T (n.572-37G>T) c.209-37G>T (n.209-37G>T) c.578-37G>T (n.578-37G>T) c.215-37G>T (n.215-37G>T) | gnomAD v4 |
22 | g.45293145G>A | CA2657267238 | UPK3A | c.572-36G>A (n.572-36G>A) c.209-36G>A (n.209-36G>A) c.578-36G>A (n.578-36G>A) c.215-36G>A (n.215-36G>A) | gnomAD v4 |
22 | g.45293145G>T | CA2657267239 | UPK3A | c.572-36G>T (n.572-36G>T) c.209-36G>T (n.209-36G>T) c.578-36G>T (n.578-36G>T) c.215-36G>T (n.215-36G>T) | gnomAD v4 |
22 | g.45293147G>A | CA639614089 | UPK3A | c.572-34G>A (n.572-34G>A) c.209-34G>A (n.209-34G>A) c.578-34G>A (n.578-34G>A) c.215-34G>A (n.215-34G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293147G= | CA2408185358 | UPK3A | c.572-34G= (n.572-34G=) c.209-34G= (n.209-34G=) c.578-34G= (n.578-34G=) c.215-34G= (n.215-34G=) | |
22 | g.45293147G>T | CA2657267240 | UPK3A | c.572-34G>T (n.572-34G>T) c.209-34G>T (n.209-34G>T) c.578-34G>T (n.578-34G>T) c.215-34G>T (n.215-34G>T) | gnomAD v4 |
22 | g.45293148T>C | CA10284463 | UPK3A | c.572-33T>C (n.572-33T>C) c.209-33T>C (n.209-33T>C) c.578-33T>C (n.578-33T>C) c.215-33T>C (n.215-33T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293148T= | CA2408185359 | UPK3A | c.572-33T= (n.572-33T=) c.209-33T= (n.209-33T=) c.578-33T= (n.578-33T=) c.215-33T= (n.215-33T=) | |
22 | g.45293149C>A | CA2657267241 | UPK3A | c.572-32C>A (n.572-32C>A) c.209-32C>A (n.209-32C>A) c.578-32C>A (n.578-32C>A) c.215-32C>A (n.215-32C>A) | gnomAD v4 |
22 | g.45293149C= | CA2408185360 | UPK3A | c.572-32C= (n.572-32C=) c.209-32C= (n.209-32C=) c.578-32C= (n.578-32C=) c.215-32C= (n.215-32C=) | |
22 | g.45293149C>T | CA325067060 | UPK3A | c.572-32C>T (n.572-32C>T) c.209-32C>T (n.209-32C>T) c.578-32C>T (n.578-32C>T) c.215-32C>T (n.215-32C>T) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293151G>T | CA2657267242 | UPK3A | c.572-30G>T (n.572-30G>T) c.209-30G>T (n.209-30G>T) c.578-30G>T (n.578-30G>T) c.215-30G>T (n.215-30G>T) | gnomAD v4 |
22 | g.45293152G>A | CA10284464 | UPK3A | c.572-29G>A (n.572-29G>A) c.209-29G>A (n.209-29G>A) c.578-29G>A (n.578-29G>A) c.215-29G>A (n.215-29G>A) | dbSNP ExAC gnomAD v2 |
22 | g.45293152G= | CA2408185361 | UPK3A | c.572-29G= (n.572-29G=) c.209-29G= (n.209-29G=) c.578-29G= (n.578-29G=) c.215-29G= (n.215-29G=) | |
22 | g.45293153G>A | CA10284465 | UPK3A | c.572-28G>A (n.572-28G>A) c.209-28G>A (n.209-28G>A) c.578-28G>A (n.578-28G>A) c.215-28G>A (n.215-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293153G>C | CA753582927 | UPK3A | c.572-28G>C (n.572-28G>C) c.209-28G>C (n.209-28G>C) c.578-28G>C (n.578-28G>C) c.215-28G>C (n.215-28G>C) | dbSNP |
22 | g.45293153G= | CA2408185362 | UPK3A | c.572-28G= (n.572-28G=) c.209-28G= (n.209-28G=) c.578-28G= (n.578-28G=) c.215-28G= (n.215-28G=) | |
22 | g.45293153G>T | CA2657267243 | UPK3A | c.572-28G>T (n.572-28G>T) c.209-28G>T (n.209-28G>T) c.578-28G>T (n.578-28G>T) c.215-28G>T (n.215-28G>T) | gnomAD v4 |
22 | g.45293154A= | CA2408185363 | UPK3A | c.572-27A= (n.572-27A=) c.209-27A= (n.209-27A=) c.578-27A= (n.578-27A=) c.215-27A= (n.215-27A=) | |
22 | g.45293154A>C | CA10284466 | UPK3A | c.572-27A>C (n.572-27A>C) c.209-27A>C (n.209-27A>C) c.578-27A>C (n.578-27A>C) c.215-27A>C (n.215-27A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293155A>T | CA2657267244 | UPK3A | c.572-26A>T (n.572-26A>T) c.209-26A>T (n.209-26A>T) c.578-26A>T (n.578-26A>T) c.215-26A>T (n.215-26A>T) | gnomAD v4 |
22 | g.45293156G>A | CA10284467 | UPK3A | c.572-25G>A (n.572-25G>A) c.209-25G>A (n.209-25G>A) c.578-25G>A (n.578-25G>A) c.215-25G>A (n.215-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293156G= | CA2408185364 | UPK3A | c.572-25G= (n.572-25G=) c.209-25G= (n.209-25G=) c.578-25G= (n.578-25G=) c.215-25G= (n.215-25G=) | |
22 | g.45293156G>T | CA639614098 | UPK3A | c.572-25G>T (n.572-25G>T) c.209-25G>T (n.209-25G>T) c.578-25G>T (n.578-25G>T) c.215-25G>T (n.215-25G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293158A>G | CA2738344268 | UPK3A | c.572-23A>G (n.572-23A>G) c.209-23A>G (n.209-23A>G) c.578-23A>G (n.578-23A>G) c.215-23A>G (n.215-23A>G) | dbSNP |
22 | g.45293160C>A | CA2819158223 | UPK3A | c.572-21C>A (n.572-21C>A) c.209-21C>A (n.209-21C>A) c.578-21C>A (n.578-21C>A) c.215-21C>A (n.215-21C>A) | |
22 | g.45293160C= | CA2408185365 | UPK3A | c.572-21C= (n.572-21C=) c.209-21C= (n.209-21C=) c.578-21C= (n.578-21C=) c.215-21C= (n.215-21C=) | |
22 | g.45293160C>T | CA10284468 | UPK3A | c.572-21C>T (n.572-21C>T) c.209-21C>T (n.209-21C>T) c.578-21C>T (n.578-21C>T) c.215-21C>T (n.215-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293161C>A | CA2577748619 | UPK3A | c.572-20C>A (n.572-20C>A) c.209-20C>A (n.209-20C>A) c.578-20C>A (n.578-20C>A) c.215-20C>A (n.215-20C>A) | |
22 | g.45293161C= | CA2408185366 | UPK3A | c.572-20C= (n.572-20C=) c.209-20C= (n.209-20C=) c.578-20C= (n.578-20C=) c.215-20C= (n.215-20C=) | |
22 | g.45293161C>G | CA10284469 | UPK3A | c.572-20C>G (n.572-20C>G) c.209-20C>G (n.209-20C>G) c.578-20C>G (n.578-20C>G) c.215-20C>G (n.215-20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293161C>T | CA10284470 | UPK3A | c.572-20C>T (n.572-20C>T) c.209-20C>T (n.209-20C>T) c.578-20C>T (n.578-20C>T) c.215-20C>T (n.215-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293162G>A | CA325067111 | UPK3A | c.572-19G>A (n.572-19G>A) c.209-19G>A (n.209-19G>A) c.578-19G>A (n.578-19G>A) c.215-19G>A (n.215-19G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293162G>C | CA10284471 | UPK3A | c.572-19G>C (n.572-19G>C) c.209-19G>C (n.209-19G>C) c.578-19G>C (n.578-19G>C) c.215-19G>C (n.215-19G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293162G= | CA2408185367 | UPK3A | c.572-19G= (n.572-19G=) c.209-19G= (n.209-19G=) c.578-19G= (n.578-19G=) c.215-19G= (n.215-19G=) | |
22 | g.45293163G>A | CA753582935 | UPK3A | c.572-18G>A (n.572-18G>A) c.209-18G>A (n.209-18G>A) c.578-18G>A (n.578-18G>A) c.215-18G>A (n.215-18G>A) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293163G= | CA2408185368 | UPK3A | c.572-18G= (n.572-18G=) c.209-18G= (n.209-18G=) c.578-18G= (n.578-18G=) c.215-18G= (n.215-18G=) | |
22 | g.45293165C= | CA2408185369 | UPK3A | c.572-16C= (n.572-16C=) c.209-16C= (n.209-16C=) c.578-16C= (n.578-16C=) c.215-16C= (n.215-16C=) | |
22 | g.45293165C>G | CA10284472 | UPK3A | c.572-16C>G (n.572-16C>G) c.209-16C>G (n.209-16C>G) c.578-16C>G (n.578-16C>G) c.215-16C>G (n.215-16C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293167G>A | CA2657267245 | UPK3A | c.572-14G>A (n.572-14G>A) c.209-14G>A (n.209-14G>A) c.578-14G>A (n.578-14G>A) c.215-14G>A (n.215-14G>A) | gnomAD v4 |
22 | g.45293167G>T | CA2657267246 | UPK3A | c.572-14G>T (n.572-14G>T) c.209-14G>T (n.209-14G>T) c.578-14G>T (n.578-14G>T) c.215-14G>T (n.215-14G>T) | gnomAD v4 |
22 | g.45293168C= | CA2408185370 | UPK3A | c.572-13C= (n.572-13C=) c.209-13C= (n.209-13C=) c.578-13C= (n.578-13C=) c.215-13C= (n.215-13C=) | |
22 | g.45293168C>T | CA10284473 | UPK3A | c.572-13C>T (n.572-13C>T) c.209-13C>T (n.209-13C>T) c.578-13C>T (n.578-13C>T) c.215-13C>T (n.215-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293169A= | CA2408185371 | UPK3A | c.572-12A= (n.572-12A=) c.209-12A= (n.209-12A=) c.578-12A= (n.578-12A=) c.215-12A= (n.215-12A=) | |
22 | g.45293169A>T | CA2408185372 | UPK3A | c.572-12A>T (n.572-12A>T) c.209-12A>T (n.209-12A>T) c.578-12A>T (n.578-12A>T) c.215-12A>T (n.215-12A>T) | dbSNP |
22 | g.45293171C>T | CA2577748620 | UPK3A | c.572-10C>T (n.572-10C>T) c.209-10C>T (n.209-10C>T) c.578-10C>T (n.578-10C>T) c.215-10C>T (n.215-10C>T) | gnomAD v4 |
22 | g.45293172C>A | CA639614105 | UPK3A | c.572-9C>A (n.572-9C>A) c.209-9C>A (n.209-9C>A) c.578-9C>A (n.578-9C>A) c.215-9C>A (n.215-9C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293172C= | CA2408185373 | UPK3A | c.572-9C= (n.572-9C=) c.209-9C= (n.209-9C=) c.578-9C= (n.578-9C=) c.215-9C= (n.215-9C=) | |
22 | g.45293173C>A | CA645614209 | UPK3A | c.572-8C>A (n.572-8C>A) c.209-8C>A (n.209-8C>A) c.578-8C>A (n.578-8C>A) c.215-8C>A (n.215-8C>A) | COSMIC |
22 | g.45293175C>A | CA2657267247 | UPK3A | c.572-6C>A (n.572-6C>A) c.209-6C>A (n.209-6C>A) c.578-6C>A (n.578-6C>A) c.215-6C>A (n.215-6C>A) | gnomAD v4 |
22 | g.45293175C= | CA2408185375 | UPK3A | c.572-6C= (n.572-6C=) c.209-6C= (n.209-6C=) c.578-6C= (n.578-6C=) c.215-6C= (n.215-6C=) | |
22 | g.45293175C>T | CA10284474 | UPK3A | c.572-6C>T (n.572-6C>T) c.209-6C>T (n.209-6C>T) c.578-6C>T (n.578-6C>T) c.215-6C>T (n.215-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293175_45293177delinsCCA | CA2408185374 | UPK3A | c.572-6_572-4delinsCCA (n.572-6_572-4delinsCCA) c.209-6_209-4delinsCCA (n.209-6_209-4delinsCCA) c.578-6_578-4delinsCCA (n.578-6_578-4delinsCCA) c.215-6_215-4delinsCCA (n.215-6_215-4delinsCCA) | |
22 | g.45293176C= | CA2408185376 | UPK3A | c.572-5C= (n.572-5C=) c.209-5C= (n.209-5C=) c.578-5C= (n.578-5C=) c.215-5C= (n.215-5C=) | |
22 | g.45293176C>T | CA10284475 | UPK3A | c.572-5C>T (n.572-5C>T) c.209-5C>T (n.209-5C>T) c.578-5C>T (n.578-5C>T) c.215-5C>T (n.215-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293178_45293179del | CA753582952 | UPK3A | c.572-3_572-2del (n.572-3_572-2del) c.209-3_209-2del (n.209-3_209-2del) c.578-3_578-2del (n.578-3_578-2del) c.215-3_215-2del (n.215-3_215-2del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293178C>T | CA2577748621 | UPK3A | c.572-3C>T (n.572-3C>T) c.209-3C>T (n.209-3C>T) c.578-3C>T (n.578-3C>T) c.215-3C>T (n.215-3C>T) | gnomAD v4 |
22 | g.45293179A>C | CA411878934 | UPK3A | c.572-2A>C (n.572-2A>C) c.209-2A>C (n.209-2A>C) c.578-2A>C (n.578-2A>C) c.215-2A>C (n.215-2A>C) | |
22 | g.45293179A>G | CA411878937 | UPK3A | c.572-2A>G (n.572-2A>G) c.209-2A>G (n.209-2A>G) c.578-2A>G (n.578-2A>G) c.215-2A>G (n.215-2A>G) | |
22 | g.45293179A>T | CA411878940 | UPK3A | c.572-2A>T (n.572-2A>T) c.209-2A>T (n.209-2A>T) c.578-2A>T (n.578-2A>T) c.215-2A>T (n.215-2A>T) | |
22 | g.45293180G>A | CA10284476 | UPK3A | c.572-1G>A (n.572-1G>A) c.209-1G>A (n.209-1G>A) c.578-1G>A (n.578-1G>A) c.215-1G>A (n.215-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293180G>C | CA411878947 | UPK3A | c.572-1G>C (n.572-1G>C) c.209-1G>C (n.209-1G>C) c.578-1G>C (n.578-1G>C) c.215-1G>C (n.215-1G>C) | |
22 | g.45293180G= | CA2408185377 | UPK3A | c.572-1G= (n.572-1G=) c.209-1G= (n.209-1G=) c.578-1G= (n.578-1G=) c.215-1G= (n.215-1G=) | |
22 | g.45293180G>T | CA411878944 | UPK3A | c.572-1G>T (n.572-1G>T) c.209-1G>T (n.209-1G>T) c.578-1G>T (n.578-1G>T) c.215-1G>T (n.215-1G>T) | |
22 | g.45293181T>A | CA411878954 | UPK3A | c.572T>A (p.Leu191His) c.209T>A (p.Val70Asp) c.578T>A (p.Leu193His) c.215T>A (p.Val72Asp) | |
22 | g.45293181T>C | CA411878950 | UPK3A | c.572T>C (p.Leu191Pro) c.209T>C (p.Val70Ala) c.578T>C (p.Leu193Pro) c.215T>C (p.Val72Ala) | gnomAD v4 |
22 | g.45293181T>G | CA411878953 | UPK3A | c.572T>G (p.Leu191Arg) c.209T>G (p.Val70Gly) c.578T>G (p.Leu193Arg) c.215T>G (p.Val72Gly) | |
22 | g.45293182C>A | CA514882663 | UPK3A | c.573C>A (p.Leu191=) c.210C>A (p.Val70=) c.579C>A (p.Leu193=) c.216C>A (p.Val72=) | |
22 | g.45293182C>G | CA514882664 | UPK3A | c.573C>G (p.Leu191=) c.210C>G (p.Val70=) c.579C>G (p.Leu193=) c.216C>G (p.Val72=) | |
22 | g.45293182C>T | CA514882665 | UPK3A | c.573C>T (p.Leu191=) c.210C>T (p.Val70=) c.579C>T (p.Leu193=) c.216C>T (p.Val72=) | |
22 | g.45293183A>C | CA411878957 | UPK3A | c.574A>C (p.Thr192Pro) c.211A>C (p.Thr71Pro) c.580A>C (p.Thr194Pro) c.217A>C (p.Thr73Pro) | |
22 | g.45293183A>G | CA411878960 | UPK3A | c.574A>G (p.Thr192Ala) c.211A>G (p.Thr71Ala) c.580A>G (p.Thr194Ala) c.217A>G (p.Thr73Ala) | |
22 | g.45293183A>T | CA411878962 | UPK3A | c.574A>T (p.Thr192Ser) c.211A>T (p.Thr71Ser) c.580A>T (p.Thr194Ser) c.217A>T (p.Thr73Ser) | |
22 | g.45293184C>A | CA411878970 | UPK3A | c.575C>A (p.Thr192Asn) c.212C>A (p.Thr71Asn) c.581C>A (p.Thr194Asn) c.218C>A (p.Thr73Asn) | |
22 | g.45293184C>G | CA411878968 | UPK3A | c.575C>G (p.Thr192Ser) c.212C>G (p.Thr71Ser) c.581C>G (p.Thr194Ser) c.218C>G (p.Thr73Ser) | |
22 | g.45293184C>T | CA411878965 | UPK3A | c.575C>T (p.Thr192Ile) c.212C>T (p.Thr71Ile) c.581C>T (p.Thr194Ile) c.218C>T (p.Thr73Ile) | gnomAD v4 |
22 | g.45293185C>A | CA514882666 | UPK3A | c.576C>A (p.Thr192=) c.213C>A (p.Thr71=) c.582C>A (p.Thr194=) c.219C>A (p.Thr73=) | |
22 | g.45293185C= | CA2408185378 | UPK3A | c.576C= (p.Thr192=) c.213C= (p.Thr71=) c.582C= (p.Thr194=) c.219C= (p.Thr73=) | |
22 | g.45293185C>G | CA514882667 | UPK3A | c.576C>G (p.Thr192=) c.213C>G (p.Thr71=) c.582C>G (p.Thr194=) c.219C>G (p.Thr73=) | dbSNP |
22 | g.45293185C>T | CA514882668 | UPK3A | c.576C>T (p.Thr192=) c.213C>T (p.Thr71=) c.582C>T (p.Thr194=) c.219C>T (p.Thr73=) | |
22 | g.45293186C>A | CA411878973 | UPK3A | c.577C>A (p.Pro193Thr) c.214C>A (p.Pro72Thr) c.583C>A (p.Pro195Thr) c.220C>A (p.Pro74Thr) | |
22 | g.45293186C>G | CA411878975 | UPK3A | c.577C>G (p.Pro193Ala) c.214C>G (p.Pro72Ala) c.583C>G (p.Pro195Ala) c.220C>G (p.Pro74Ala) | |
22 | g.45293186C>T | CA411878978 | UPK3A | c.577C>T (p.Pro193Ser) c.214C>T (p.Pro72Ser) c.583C>T (p.Pro195Ser) c.220C>T (p.Pro74Ser) | |
22 | g.45293187C>A | CA411878980 | UPK3A | c.578C>A (p.Pro193Gln) c.215C>A (p.Pro72Gln) c.584C>A (p.Pro195Gln) c.221C>A (p.Pro74Gln) | |
22 | g.45293187C= | CA2408185379 | UPK3A | c.578C= (p.Pro193=) c.215C= (p.Pro72=) c.584C= (p.Pro195=) c.221C= (p.Pro74=) | |
22 | g.45293187C>G | CA411878983 | UPK3A | c.578C>G (p.Pro193Arg) c.215C>G (p.Pro72Arg) c.584C>G (p.Pro195Arg) c.221C>G (p.Pro74Arg) | |
22 | g.45293187C>T | CA10284477 | UPK3A | c.578C>T (p.Pro193Leu) c.215C>T (p.Pro72Leu) c.584C>T (p.Pro195Leu) c.221C>T (p.Pro74Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293188A>C | CA514882669 | UPK3A | c.579A>C (p.Pro193=) c.216A>C (p.Pro72=) c.585A>C (p.Pro195=) c.222A>C (p.Pro74=) | gnomAD v4 |
22 | g.45293188A>G | CA514882670 | UPK3A | c.579A>G (p.Pro193=) c.216A>G (p.Pro72=) c.585A>G (p.Pro195=) c.222A>G (p.Pro74=) | |
22 | g.45293188A>T | CA514882671 | UPK3A | c.579A>T (p.Pro193=) c.216A>T (p.Pro72=) c.585A>T (p.Pro195=) c.222A>T (p.Pro74=) | |
22 | g.45293189T>A | CA411878993 | UPK3A | c.580T>A (p.Tyr194Asn) c.217T>A (p.Tyr73Asn) c.586T>A (p.Tyr196Asn) c.223T>A (p.Tyr75Asn) | |
22 | g.45293189T>C | CA411878989 | UPK3A | c.580T>C (p.Tyr194His) c.217T>C (p.Tyr73His) c.586T>C (p.Tyr196His) c.223T>C (p.Tyr75His) | |
22 | g.45293189T>G | CA411878991 | UPK3A | c.580T>G (p.Tyr194Asp) c.217T>G (p.Tyr73Asp) c.586T>G (p.Tyr196Asp) c.223T>G (p.Tyr75Asp) | |
22 | g.45293190A>C | CA411878995 | UPK3A | c.581A>C (p.Tyr194Ser) c.218A>C (p.Tyr73Ser) c.587A>C (p.Tyr196Ser) c.224A>C (p.Tyr75Ser) | |
22 | g.45293190A>G | CA411878998 | UPK3A | c.581A>G (p.Tyr194Cys) c.218A>G (p.Tyr73Cys) c.587A>G (p.Tyr196Cys) c.224A>G (p.Tyr75Cys) | |
22 | g.45293190A>T | CA411878999 | UPK3A | c.581A>T (p.Tyr194Phe) c.218A>T (p.Tyr73Phe) c.587A>T (p.Tyr196Phe) c.224A>T (p.Tyr75Phe) | |
22 | g.45293191C>A | CA411879003 | UPK3A | c.582C>A (p.Tyr194Ter) c.219C>A (p.Tyr73Ter) c.588C>A (p.Tyr196Ter) c.225C>A (p.Tyr75Ter) | |
22 | g.45293191C>G | CA411879006 | UPK3A | c.582C>G (p.Tyr194Ter) c.219C>G (p.Tyr73Ter) c.588C>G (p.Tyr196Ter) c.225C>G (p.Tyr75Ter) | |
22 | g.45293191C>T | CA514882673 | UPK3A | c.582C>T (p.Tyr194=) c.219C>T (p.Tyr73=) c.588C>T (p.Tyr196=) c.225C>T (p.Tyr75=) | gnomAD v4 |
22 | g.45293192T>A | CA411879007 | UPK3A | c.583T>A (p.Ser195Thr) c.220T>A (p.Ser74Thr) c.589T>A (p.Ser197Thr) c.226T>A (p.Ser76Thr) | |
22 | g.45293192T>C | CA411879008 | UPK3A | c.583T>C (p.Ser195Pro) c.220T>C (p.Ser74Pro) c.589T>C (p.Ser197Pro) c.226T>C (p.Ser76Pro) | |
22 | g.45293192T>G | CA411879009 | UPK3A | c.583T>G (p.Ser195Ala) c.220T>G (p.Ser74Ala) c.589T>G (p.Ser197Ala) c.226T>G (p.Ser76Ala) | |
22 | g.45293193C>A | CA411879011 | UPK3A | c.584C>A (p.Ser195Ter) c.221C>A (p.Ser74Ter) c.590C>A (p.Ser197Ter) c.227C>A (p.Ser76Ter) | |
22 | g.45293193C= | CA2408185380 | UPK3A | c.584C= (p.Ser195=) c.221C= (p.Ser74=) c.590C= (p.Ser197=) c.227C= (p.Ser76=) | |
22 | g.45293193C>G | CA411879012 | UPK3A | c.584C>G (p.Ser195Trp) c.221C>G (p.Ser74Trp) c.590C>G (p.Ser197Trp) c.227C>G (p.Ser76Trp) | gnomAD v4 |
22 | g.45293193C>T | CA10284478 | UPK3A | c.584C>T (p.Ser195Leu) c.221C>T (p.Ser74Leu) c.590C>T (p.Ser197Leu) c.227C>T (p.Ser76Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293194G>A | CA10284479 | UPK3A | c.585G>A (p.Ser195=) c.222G>A (p.Ser74=) c.591G>A (p.Ser197=) c.228G>A (p.Ser76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293194G>C | CA514882674 | UPK3A | c.585G>C (p.Ser195=) c.222G>C (p.Ser74=) c.591G>C (p.Ser197=) c.228G>C (p.Ser76=) | |
22 | g.45293194G= | CA2408185381 | UPK3A | c.585G= (p.Ser195=) c.222G= (p.Ser74=) c.591G= (p.Ser197=) c.228G= (p.Ser76=) | |
22 | g.45293194G>T | CA514882675 | UPK3A | c.585G>T (p.Ser195=) c.222G>T (p.Ser74=) c.591G>T (p.Ser197=) c.228G>T (p.Ser76=) | |
22 | g.45293195A>C | CA411879017 | UPK3A | c.586A>C (p.Thr196Pro) c.223A>C (p.Thr75Pro) c.592A>C (p.Thr198Pro) c.229A>C (p.Thr77Pro) | |
22 | g.45293195A>G | CA411879020 | UPK3A | c.586A>G (p.Thr196Ala) c.223A>G (p.Thr75Ala) c.592A>G (p.Thr198Ala) c.229A>G (p.Thr77Ala) | |
22 | g.45293195A>T | CA411879018 | UPK3A | c.586A>T (p.Thr196Ser) c.223A>T (p.Thr75Ser) c.592A>T (p.Thr198Ser) c.229A>T (p.Thr77Ser) | |
22 | g.45293196C>A | CA411879021 | UPK3A | c.587C>A (p.Thr196Lys) c.224C>A (p.Thr75Lys) c.593C>A (p.Thr198Lys) c.230C>A (p.Thr77Lys) | gnomAD v4 |
22 | g.45293196C= | CA2408185382 | UPK3A | c.587C= (p.Thr196=) c.224C= (p.Thr75=) c.593C= (p.Thr198=) c.230C= (p.Thr77=) | |
22 | g.45293196C>G | CA411879024 | UPK3A | c.587C>G (p.Thr196Arg) c.224C>G (p.Thr75Arg) c.593C>G (p.Thr198Arg) c.230C>G (p.Thr77Arg) | dbSNP gnomAD v4 |
22 | g.45293196C>T | CA10284480 | UPK3A | c.587C>T (p.Thr196Met) c.224C>T (p.Thr75Met) c.593C>T (p.Thr198Met) c.230C>T (p.Thr77Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293197G>A | CA10284481 | UPK3A | c.588G>A (p.Thr196=) c.225G>A (p.Thr75=) c.594G>A (p.Thr198=) c.231G>A (p.Thr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293197G>C | CA514882676 | UPK3A | c.588G>C (p.Thr196=) c.225G>C (p.Thr75=) c.594G>C (p.Thr198=) c.231G>C (p.Thr77=) | |
22 | g.45293197G= | CA2408185383 | UPK3A | c.588G= (p.Thr196=) c.225G= (p.Thr75=) c.594G= (p.Thr198=) c.231G= (p.Thr77=) | |
22 | g.45293197G>T | CA514882677 | UPK3A | c.588G>T (p.Thr196=) c.225G>T (p.Thr75=) c.594G>T (p.Thr198=) c.231G>T (p.Thr77=) | |
22 | g.45293198A>C | CA411879029 | UPK3A | c.589A>C (p.Ile197Leu) c.226A>C (p.Ile76Leu) c.595A>C (p.Ile199Leu) c.232A>C (p.Ile78Leu) | |
22 | g.45293198A>G | CA411879030 | UPK3A | c.589A>G (p.Ile197Val) c.226A>G (p.Ile76Val) c.595A>G (p.Ile199Val) c.232A>G (p.Ile78Val) | |
22 | g.45293198A>T | CA411879033 | UPK3A | c.589A>T (p.Ile197Phe) c.226A>T (p.Ile76Phe) c.595A>T (p.Ile199Phe) c.232A>T (p.Ile78Phe) | |
22 | g.45293198_45293199insAGAAGATAGCATCCTTAATGTGAACAGCTTT | CA2657267248 | UPK3A | c.589_590insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile197LysfsTer8) c.226_227insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile76LysfsTer8) c.595_596insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile199LysfsTer8) c.232_233insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile78LysfsTer8) | gnomAD v4 |
22 | g.45293199T>A | CA411879037 | UPK3A | c.590T>A (p.Ile197Asn) c.227T>A (p.Ile76Asn) c.596T>A (p.Ile199Asn) c.233T>A (p.Ile78Asn) | |
22 | g.45293199T>C | CA411879039 | UPK3A | c.590T>C (p.Ile197Thr) c.227T>C (p.Ile76Thr) c.596T>C (p.Ile199Thr) c.233T>C (p.Ile78Thr) | |
22 | g.45293199T>G | CA411879041 | UPK3A | c.590T>G (p.Ile197Ser) c.227T>G (p.Ile76Ser) c.596T>G (p.Ile199Ser) c.233T>G (p.Ile78Ser) | |
22 | g.45293200C>A | CA514882678 | UPK3A | c.591C>A (p.Ile197=) c.228C>A (p.Ile76=) c.597C>A (p.Ile199=) c.234C>A (p.Ile78=) | dbSNP gnomAD v2 |
22 | g.45293200C= | CA2408185384 | UPK3A | c.591C= (p.Ile197=) c.228C= (p.Ile76=) c.597C= (p.Ile199=) c.234C= (p.Ile78=) | |
22 | g.45293200C>G | CA411879043 | UPK3A | c.591C>G (p.Ile197Met) c.228C>G (p.Ile76Met) c.597C>G (p.Ile199Met) c.234C>G (p.Ile78Met) | gnomAD v4 |
22 | g.45293200C>T | CA514882679 | UPK3A | c.591C>T (p.Ile197=) c.228C>T (p.Ile76=) c.597C>T (p.Ile199=) c.234C>T (p.Ile78=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293201G>A | CA411879052 | UPK3A | c.592G>A (p.Asp198Asn) c.229G>A (p.Asp77Asn) c.598G>A (p.Asp200Asn) c.235G>A (p.Asp79Asn) | dbSNP gnomAD v4 |
22 | g.45293201G>C | CA411879049 | UPK3A | c.592G>C (p.Asp198His) c.229G>C (p.Asp77His) c.598G>C (p.Asp200His) c.235G>C (p.Asp79His) | |
22 | g.45293201G= | CA2408185385 | UPK3A | c.592G= (p.Asp198=) c.229G= (p.Asp77=) c.598G= (p.Asp200=) c.235G= (p.Asp79=) | |
22 | g.45293201G>T | CA411879046 | UPK3A | c.592G>T (p.Asp198Tyr) c.229G>T (p.Asp77Tyr) c.598G>T (p.Asp200Tyr) c.235G>T (p.Asp79Tyr) | |
22 | g.45293202A>C | CA411879054 | UPK3A | c.593A>C (p.Asp198Ala) c.230A>C (p.Asp77Ala) c.599A>C (p.Asp200Ala) c.236A>C (p.Asp79Ala) | |
22 | g.45293202A>G | CA411879057 | UPK3A | c.593A>G (p.Asp198Gly) c.230A>G (p.Asp77Gly) c.599A>G (p.Asp200Gly) c.236A>G (p.Asp79Gly) | |
22 | g.45293202A>T | CA411879060 | UPK3A | c.593A>T (p.Asp198Val) c.230A>T (p.Asp77Val) c.599A>T (p.Asp200Val) c.236A>T (p.Asp79Val) | |
22 | g.45293203C>A | CA325067174 | UPK3A | c.594C>A (p.Asp198Glu) c.231C>A (p.Asp77Glu) c.600C>A (p.Asp200Glu) c.237C>A (p.Asp79Glu) | dbSNP gnomAD v4 |
22 | g.45293203C= | CA2408185386 | UPK3A | c.594C= (p.Asp198=) c.231C= (p.Asp77=) c.600C= (p.Asp200=) c.237C= (p.Asp79=) | |
22 | g.45293203C>G | CA411879064 | UPK3A | c.594C>G (p.Asp198Glu) c.231C>G (p.Asp77Glu) c.600C>G (p.Asp200Glu) c.237C>G (p.Asp79Glu) | |
22 | g.45293203C>T | CA514882680 | UPK3A | c.594C>T (p.Asp198=) c.231C>T (p.Asp77=) c.600C>T (p.Asp200=) c.237C>T (p.Asp79=) | gnomAD v4 |
22 | g.45293204A= | CA2408185387 | UPK3A | c.595A= (p.Thr199=) c.232A= (p.Thr78=) c.601A= (p.Thr201=) c.238A= (p.Thr80=) | |
22 | g.45293204A>C | CA411879067 | UPK3A | c.595A>C (p.Thr199Pro) c.232A>C (p.Thr78Pro) c.601A>C (p.Thr201Pro) c.238A>C (p.Thr80Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293204A>G | CA411879070 | UPK3A | c.595A>G (p.Thr199Ala) c.232A>G (p.Thr78Ala) c.601A>G (p.Thr201Ala) c.238A>G (p.Thr80Ala) | |
22 | g.45293204A>T | CA411879072 | UPK3A | c.595A>T (p.Thr199Ser) c.232A>T (p.Thr78Ser) c.601A>T (p.Thr201Ser) c.238A>T (p.Thr80Ser) | |
22 | g.45293205C>A | CA411879074 | UPK3A | c.596C>A (p.Thr199Lys) c.233C>A (p.Thr78Lys) c.602C>A (p.Thr201Lys) c.239C>A (p.Thr80Lys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293205C= | CA2408185388 | UPK3A | c.596C= (p.Thr199=) c.233C= (p.Thr78=) c.602C= (p.Thr201=) c.239C= (p.Thr80=) | |
22 | g.45293205C>G | CA325067185 | UPK3A | c.596C>G (p.Thr199Arg) c.233C>G (p.Thr78Arg) c.602C>G (p.Thr201Arg) c.239C>G (p.Thr80Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293205C>T | CA10284482 | UPK3A | c.596C>T (p.Thr199Met) c.233C>T (p.Thr78Met) c.602C>T (p.Thr201Met) c.239C>T (p.Thr80Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293206G>A | CA10284483 | UPK3A | c.597G>A (p.Thr199=) c.234G>A (p.Thr78=) c.603G>A (p.Thr201=) c.240G>A (p.Thr80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293206G>C | CA514882681 | UPK3A | c.597G>C (p.Thr199=) c.234G>C (p.Thr78=) c.603G>C (p.Thr201=) c.240G>C (p.Thr80=) | |
22 | g.45293206G= | CA2408185389 | UPK3A | c.597G= (p.Thr199=) c.234G= (p.Thr78=) c.603G= (p.Thr201=) c.240G= (p.Thr80=) | |
22 | g.45293206G>T | CA514882682 | UPK3A | c.597G>T (p.Thr199=) c.234G>T (p.Thr78=) c.603G>T (p.Thr201=) c.240G>T (p.Thr80=) | |
22 | g.45293207T>A | CA411879083 | UPK3A | c.598T>A (p.Trp200Arg) c.235T>A (p.Trp79Arg) c.604T>A (p.Trp202Arg) c.241T>A (p.Trp81Arg) | |
22 | g.45293207T>C | CA411879087 | UPK3A | c.598T>C (p.Trp200Arg) c.235T>C (p.Trp79Arg) c.604T>C (p.Trp202Arg) c.241T>C (p.Trp81Arg) | gnomAD v4 |
22 | g.45293207T>G | CA411879082 | UPK3A | c.598T>G (p.Trp200Gly) c.235T>G (p.Trp79Gly) c.604T>G (p.Trp202Gly) c.241T>G (p.Trp81Gly) | |
22 | g.45293208G>A | CA411879094 | UPK3A | c.599G>A (p.Trp200Ter) c.236G>A (p.Trp79Ter) c.605G>A (p.Trp202Ter) c.242G>A (p.Trp81Ter) | |
22 | g.45293208G>C | CA411879089 | UPK3A | c.599G>C (p.Trp200Ser) c.236G>C (p.Trp79Ser) c.605G>C (p.Trp202Ser) c.242G>C (p.Trp81Ser) | |
22 | g.45293208G>T | CA411879092 | UPK3A | c.599G>T (p.Trp200Leu) c.236G>T (p.Trp79Leu) c.605G>T (p.Trp202Leu) c.242G>T (p.Trp81Leu) | |
22 | g.45293209G>A | CA411879097 | UPK3A | c.600G>A (p.Trp200Ter) c.237G>A (p.Trp79Ter) c.606G>A (p.Trp202Ter) c.243G>A (p.Trp81Ter) | |
22 | g.45293209G>C | CA411879098 | UPK3A | c.600G>C (p.Trp200Cys) c.237G>C (p.Trp79Cys) c.606G>C (p.Trp202Cys) c.243G>C (p.Trp81Cys) | |
22 | g.45293209G>T | CA411879101 | UPK3A | c.600G>T (p.Trp200Cys) c.237G>T (p.Trp79Cys) c.606G>T (p.Trp202Cys) c.243G>T (p.Trp81Cys) | |
22 | g.45293210C>A | CA411879105 | UPK3A | c.601C>A (p.Pro201Thr) c.238C>A (p.Pro80Thr) c.607C>A (p.Pro203Thr) c.244C>A (p.Pro82Thr) | |
22 | g.45293210C>G | CA411879107 | UPK3A | c.601C>G (p.Pro201Ala) c.238C>G (p.Pro80Ala) c.607C>G (p.Pro203Ala) c.244C>G (p.Pro82Ala) | |
22 | g.45293210C>T | CA411879110 | UPK3A | c.601C>T (p.Pro201Ser) c.238C>T (p.Pro80Ser) c.607C>T (p.Pro203Ser) c.244C>T (p.Pro82Ser) | gnomAD v4 COSMIC |
22 | g.45293211C>A | CA411879113 | UPK3A | c.602C>A (p.Pro201Gln) c.239C>A (p.Pro80Gln) c.608C>A (p.Pro203Gln) c.245C>A (p.Pro82Gln) | |
22 | g.45293211C= | CA2408185391 | UPK3A | c.602C= (p.Pro201=) c.239C= (p.Pro80=) c.608C= (p.Pro203=) c.245C= (p.Pro82=) | |
22 | g.45293211C>G | CA411879115 | UPK3A | c.602C>G (p.Pro201Arg) c.239C>G (p.Pro80Arg) c.608C>G (p.Pro203Arg) c.245C>G (p.Pro82Arg) | |
22 | g.45293211C>T | CA411879117 | UPK3A | c.602C>T (p.Pro201Leu) c.239C>T (p.Pro80Leu) c.608C>T (p.Pro203Leu) c.245C>T (p.Pro82Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293211_45293213delinsCAG | CA2408185390 | UPK3A | c.602_604delinsCAG (p.Pro201=) c.239_241delinsCAG (p.Pro80=) c.608_610delinsCAG (p.Pro203=) c.245_247delinsCAG (p.Pro82=) | |
22 | g.45293212A>C | CA514882690 | UPK3A | c.603A>C (p.Pro201=) c.240A>C (p.Pro80=) c.609A>C (p.Pro203=) c.246A>C (p.Pro82=) | |
22 | g.45293212A>G | CA514882689 | UPK3A | c.603A>G (p.Pro201=) c.240A>G (p.Pro80=) c.609A>G (p.Pro203=) c.246A>G (p.Pro82=) | |
22 | g.45293212A>T | CA514882687 | UPK3A | c.603A>T (p.Pro201=) c.240A>T (p.Pro80=) c.609A>T (p.Pro203=) c.246A>T (p.Pro82=) | |
22 | g.45293212_45293213del | CA514882688 | UPK3A | c.603_604del (p.Gly202ProfsTer?) c.240_241del (p.Gly81ProfsTer?) c.609_610del (p.Gly204ProfsTer?) c.246_247del (p.Gly83ProfsTer?) | dbSNP |
22 | g.45293213G>A | CA411879128 | UPK3A | c.604G>A (p.Gly202Ser) c.241G>A (p.Gly81Ser) c.610G>A (p.Gly204Ser) c.247G>A (p.Gly83Ser) | |
22 | g.45293213G>C | CA411879125 | UPK3A | c.604G>C (p.Gly202Arg) c.241G>C (p.Gly81Arg) c.610G>C (p.Gly204Arg) c.247G>C (p.Gly83Arg) | |
22 | g.45293213G>T | CA411879120 | UPK3A | c.604G>T (p.Gly202Cys) c.241G>T (p.Gly81Cys) c.610G>T (p.Gly204Cys) c.247G>T (p.Gly83Cys) | |
22 | g.45293213_45293214del | CA411879123 | UPK3A | c.604_605del (p.Gly202ProfsTer?) c.241_242del (p.Gly81ProfsTer?) c.610_611del (p.Gly204ProfsTer?) c.247_248del (p.Gly83ProfsTer?) | |
22 | g.45293214G>A | CA114597 | UPK3A | c.605G>A (p.Gly202Asp) c.242G>A (p.Gly81Asp) c.611G>A (p.Gly204Asp) c.248G>A (p.Gly83Asp) | ClinVar dbSNP |
22 | g.45293214G>C | CA411879130 | UPK3A | c.605G>C (p.Gly202Ala) c.242G>C (p.Gly81Ala) c.611G>C (p.Gly204Ala) c.248G>C (p.Gly83Ala) | |
22 | g.45293214G= | CA2408185392 | UPK3A | c.605G= (p.Gly202=) c.242G= (p.Gly81=) c.611G= (p.Gly204=) c.248G= (p.Gly83=) | |
22 | g.45293214G>T | CA411879133 | UPK3A | c.605G>T (p.Gly202Val) c.242G>T (p.Gly81Val) c.611G>T (p.Gly204Val) c.248G>T (p.Gly83Val) | |
22 | g.45293215C>A | CA514882692 | UPK3A | c.606C>A (p.Gly202=) c.243C>A (p.Gly81=) c.612C>A (p.Gly204=) c.249C>A (p.Gly83=) | |
22 | g.45293215C= | CA2408185393 | UPK3A | c.606C= (p.Gly202=) c.243C= (p.Gly81=) c.612C= (p.Gly204=) c.249C= (p.Gly83=) | |
22 | g.45293215C>G | CA514882693 | UPK3A | c.606C>G (p.Gly202=) c.243C>G (p.Gly81=) c.612C>G (p.Gly204=) c.249C>G (p.Gly83=) | |
22 | g.45293215C>T | CA514882695 | UPK3A | c.606C>T (p.Gly202=) c.243C>T (p.Gly81=) c.612C>T (p.Gly204=) c.249C>T (p.Gly83=) | dbSNP |
22 | g.45293216C>A | CA10284485 | UPK3A | c.607C>A (p.Arg203=) c.244C>A (p.Arg82=) c.613C>A (p.Arg205=) c.250C>A (p.Arg84=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293216C= | CA2408185394 | UPK3A | c.607C= (p.Arg203=) c.244C= (p.Arg82=) c.613C= (p.Arg205=) c.250C= (p.Arg84=) | |
22 | g.45293216C>G | CA411879137 | UPK3A | c.607C>G (p.Arg203Gly) c.244C>G (p.Arg82Gly) c.613C>G (p.Arg205Gly) c.250C>G (p.Arg84Gly) | gnomAD v4 |
22 | g.45293216C>T | CA10284484 | UPK3A | c.607C>T (p.Arg203Trp) c.244C>T (p.Arg82Trp) c.613C>T (p.Arg205Trp) c.250C>T (p.Arg84Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293217G>A | CA325067272 | UPK3A | c.608G>A (p.Arg203Gln) c.245G>A (p.Arg82Gln) c.614G>A (p.Arg205Gln) c.251G>A (p.Arg84Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293217G>C | CA411879143 | UPK3A | c.608G>C (p.Arg203Pro) c.245G>C (p.Arg82Pro) c.614G>C (p.Arg205Pro) c.251G>C (p.Arg84Pro) | |
22 | g.45293217G= | CA2408185395 | UPK3A | c.608G= (p.Arg203=) c.245G= (p.Arg82=) c.614G= (p.Arg205=) c.251G= (p.Arg84=) | |
22 | g.45293217G>T | CA411879146 | UPK3A | c.608G>T (p.Arg203Leu) c.245G>T (p.Arg82Leu) c.614G>T (p.Arg205Leu) c.251G>T (p.Arg84Leu) | |
22 | g.45293218G>A | CA514882697 | UPK3A | c.609G>A (p.Arg203=) c.246G>A (p.Arg82=) c.615G>A (p.Arg205=) c.252G>A (p.Arg84=) | |
22 | g.45293218G>C | CA514882698 | UPK3A | c.609G>C (p.Arg203=) c.246G>C (p.Arg82=) c.615G>C (p.Arg205=) c.252G>C (p.Arg84=) | |
22 | g.45293218G>T | CA514882699 | UPK3A | c.609G>T (p.Arg203=) c.246G>T (p.Arg82=) c.615G>T (p.Arg205=) c.252G>T (p.Arg84=) | |
22 | g.45293219C>A | CA10284487 | UPK3A | c.610C>A (p.Arg204=) c.247C>A (p.Arg83=) c.616C>A (p.Arg206=) c.253C>A (p.Arg85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293219C= | CA2408185396 | UPK3A | c.610C= (p.Arg204=) c.247C= (p.Arg83=) c.616C= (p.Arg206=) c.253C= (p.Arg85=) | |
22 | g.45293219C>G | CA411879150 | UPK3A | c.610C>G (p.Arg204Gly) c.247C>G (p.Arg83Gly) c.616C>G (p.Arg206Gly) c.253C>G (p.Arg85Gly) | gnomAD v4 |
22 | g.45293219C>T | CA10284486 | UPK3A | c.610C>T (p.Arg204Trp) c.247C>T (p.Arg83Trp) c.616C>T (p.Arg206Trp) c.253C>T (p.Arg85Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.45293220G>A | CA10284488 | UPK3A | c.611G>A (p.Arg204Gln) c.248G>A (p.Arg83Gln) c.617G>A (p.Arg206Gln) c.254G>A (p.Arg85Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293220G>C | CA411879158 | UPK3A | c.611G>C (p.Arg204Pro) c.248G>C (p.Arg83Pro) c.617G>C (p.Arg206Pro) c.254G>C (p.Arg85Pro) | |
22 | g.45293220G= | CA2408185397 | UPK3A | c.611G= (p.Arg204=) c.248G= (p.Arg83=) c.617G= (p.Arg206=) c.254G= (p.Arg85=) | |
22 | g.45293220G>T | CA411879154 | UPK3A | c.611G>T (p.Arg204Leu) c.248G>T (p.Arg83Leu) c.617G>T (p.Arg206Leu) c.254G>T (p.Arg85Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293221G>A | CA10284489 | UPK3A | c.612G>A (p.Arg204=) c.249G>A (p.Arg83=) c.618G>A (p.Arg206=) c.255G>A (p.Arg85=) | dbSNP ExAC gnomAD v2 |
22 | g.45293221G>C | CA514882703 | UPK3A | c.612G>C (p.Arg204=) c.249G>C (p.Arg83=) c.618G>C (p.Arg206=) c.255G>C (p.Arg85=) | |
22 | g.45293221G= | CA2408185398 | UPK3A | c.612G= (p.Arg204=) c.249G= (p.Arg83=) c.618G= (p.Arg206=) c.255G= (p.Arg85=) | |
22 | g.45293221G>T | CA514882704 | UPK3A | c.612G>T (p.Arg204=) c.249G>T (p.Arg83=) c.618G>T (p.Arg206=) c.255G>T (p.Arg85=) | |
22 | g.45293222A>C | CA411879164 | UPK3A | c.613A>C (p.Ser205Arg) c.250A>C (p.Ser84Arg) c.619A>C (p.Ser207Arg) c.256A>C (p.Ser86Arg) | |
22 | g.45293222A>G | CA411879167 | UPK3A | c.613A>G (p.Ser205Gly) c.250A>G (p.Ser84Gly) c.619A>G (p.Ser207Gly) c.256A>G (p.Ser86Gly) | gnomAD v4 |
22 | g.45293222A>T | CA411879169 | UPK3A | c.613A>T (p.Ser205Cys) c.250A>T (p.Ser84Cys) c.619A>T (p.Ser207Cys) c.256A>T (p.Ser86Cys) | |
22 | g.45293223G>A | CA411879173 | UPK3A | c.614G>A (p.Ser205Asn) c.251G>A (p.Ser84Asn) c.620G>A (p.Ser207Asn) c.257G>A (p.Ser86Asn) | |
22 | g.45293223G>C | CA411879175 | UPK3A | c.614G>C (p.Ser205Thr) c.251G>C (p.Ser84Thr) c.620G>C (p.Ser207Thr) c.257G>C (p.Ser86Thr) | |
22 | g.45293223G= | CA2408185399 | UPK3A | c.614G= (p.Ser205=) c.251G= (p.Ser84=) c.620G= (p.Ser207=) c.257G= (p.Ser86=) | |
22 | g.45293223G>T | CA411879179 | UPK3A | c.614G>T (p.Ser205Ile) c.251G>T (p.Ser84Ile) c.620G>T (p.Ser207Ile) c.257G>T (p.Ser86Ile) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293223_45293251delinsGCGGAGGCATGATCGTCATCACTTCCATC | CA2408185400 | UPK3A | c.614_642delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser205=) c.251_279delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser84=) c.620_648delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser207=) c.257_285delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser86=) | |
22 | g.45293224C>A | CA411879182 | UPK3A | c.615C>A (p.Ser205Arg) c.252C>A (p.Ser84Arg) c.621C>A (p.Ser207Arg) c.258C>A (p.Ser86Arg) | |
22 | g.45293224C= | CA2408185402 | UPK3A | c.615C= (p.Ser205=) c.252C= (p.Ser84=) c.621C= (p.Ser207=) c.258C= (p.Ser86=) | |
22 | g.45293224C>G | CA411879184 | UPK3A | c.615C>G (p.Ser205Arg) c.252C>G (p.Ser84Arg) c.621C>G (p.Ser207Arg) c.258C>G (p.Ser86Arg) | |
22 | g.45293224C>T | CA10284490 | UPK3A | c.615C>T (p.Ser205=) c.252C>T (p.Ser84=) c.621C>T (p.Ser207=) c.258C>T (p.Ser86=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.45293224_45293231del | CA1026219332 | UPK3A | c.615_622del (p.Gly206AspfsTer?) c.252_259del (p.Gly85AspfsTer?) c.621_628del (p.Gly208AspfsTer?) c.258_265del (p.Gly87AspfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.45293225_45293252del | CA2408185401 | UPK3A | c.616_643del (p.Gly206TrpfsTer?) c.253_280del (p.Gly85TrpfsTer?) c.622_649del (p.Gly208TrpfsTer?) c.259_286del (p.Gly87TrpfsTer?) | dbSNP |
22 | g.45293225G>A | CA10284491 | UPK3A | c.616G>A (p.Gly206Arg) c.253G>A (p.Gly85Arg) c.622G>A (p.Gly208Arg) c.259G>A (p.Gly87Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293225G>C | CA411879189 | UPK3A | c.616G>C (p.Gly206Arg) c.253G>C (p.Gly85Arg) c.622G>C (p.Gly208Arg) c.259G>C (p.Gly87Arg) | |
22 | g.45293225G= | CA2408185403 | UPK3A | c.616G= (p.Gly206=) c.253G= (p.Gly85=) c.622G= (p.Gly208=) c.259G= (p.Gly87=) | |
22 | g.45293225G>T | CA411879191 | UPK3A | c.616G>T (p.Gly206Ter) c.253G>T (p.Gly85Ter) c.622G>T (p.Gly208Ter) c.259G>T (p.Gly87Ter) | |
22 | g.45293226G>A | CA411879195 | UPK3A | c.617G>A (p.Gly206Glu) c.254G>A (p.Gly85Glu) c.623G>A (p.Gly208Glu) c.260G>A (p.Gly87Glu) | |
22 | g.45293226G>C | CA411879198 | UPK3A | c.617G>C (p.Gly206Ala) c.254G>C (p.Gly85Ala) c.623G>C (p.Gly208Ala) c.260G>C (p.Gly87Ala) | |
22 | g.45293226G= | CA2408185404 | UPK3A | c.617G= (p.Gly206=) c.254G= (p.Gly85=) c.623G= (p.Gly208=) c.260G= (p.Gly87=) | |
22 | g.45293226G>T | CA10284492 | UPK3A | c.617G>T (p.Gly206Val) c.254G>T (p.Gly85Val) c.623G>T (p.Gly208Val) c.260G>T (p.Gly87Val) | dbSNP ExAC gnomAD v2 |
22 | g.45293227A>C | CA514882706 | UPK3A | c.618A>C (p.Gly206=) c.255A>C (p.Gly85=) c.624A>C (p.Gly208=) c.261A>C (p.Gly87=) | |
22 | g.45293227A>G | CA514882707 | UPK3A | c.618A>G (p.Gly206=) c.255A>G (p.Gly85=) c.624A>G (p.Gly208=) c.261A>G (p.Gly87=) | gnomAD v4 |
22 | g.45293227A>T | CA514882709 | UPK3A | c.618A>T (p.Gly206=) c.255A>T (p.Gly85=) c.624A>T (p.Gly208=) c.261A>T (p.Gly87=) | |
22 | g.45293228G>A | CA411879201 | UPK3A | c.619G>A (p.Gly207Ser) c.256G>A (p.Gly86Ser) c.625G>A (p.Gly209Ser) c.262G>A (p.Gly88Ser) | gnomAD v4 |
22 | g.45293228G>C | CA411879203 | UPK3A | c.619G>C (p.Gly207Arg) c.256G>C (p.Gly86Arg) c.625G>C (p.Gly209Arg) c.262G>C (p.Gly88Arg) | |
22 | g.45293228G>T | CA411879205 | UPK3A | c.619G>T (p.Gly207Cys) c.256G>T (p.Gly86Cys) c.625G>T (p.Gly209Cys) c.262G>T (p.Gly88Cys) | |
22 | g.45293229G>A | CA325067327 | UPK3A | c.620G>A (p.Gly207Asp) c.257G>A (p.Gly86Asp) c.626G>A (p.Gly209Asp) c.263G>A (p.Gly88Asp) | dbSNP |
22 | g.45293229G>C | CA411879209 | UPK3A | c.620G>C (p.Gly207Ala) c.257G>C (p.Gly86Ala) c.626G>C (p.Gly209Ala) c.263G>C (p.Gly88Ala) | |
22 | g.45293229G= | CA2408185405 | UPK3A | c.620G= (p.Gly207=) c.257G= (p.Gly86=) c.626G= (p.Gly209=) c.263G= (p.Gly88=) | |
22 | g.45293229G>T | CA411879212 | UPK3A | c.620G>T (p.Gly207Val) c.257G>T (p.Gly86Val) c.626G>T (p.Gly209Val) c.263G>T (p.Gly88Val) | |
22 | g.45293230C>A | CA514882710 | UPK3A | c.621C>A (p.Gly207=) c.258C>A (p.Gly86=) c.627C>A (p.Gly209=) c.264C>A (p.Gly88=) | |
22 | g.45293230C>G | CA514882711 | UPK3A | c.621C>G (p.Gly207=) c.258C>G (p.Gly86=) c.627C>G (p.Gly209=) c.264C>G (p.Gly88=) | |
22 | g.45293230C>T | CA514882713 | UPK3A | c.621C>T (p.Gly207=) c.258C>T (p.Gly86=) c.627C>T (p.Gly209=) c.264C>T (p.Gly88=) | gnomAD v4 |
22 | g.45293231A= | CA2408185406 | UPK3A | c.622A= (p.Met208=) c.259A= (p.Met87=) c.628A= (p.Met210=) c.265A= (p.Met89=) | |
22 | g.45293231A>C | CA325067330 | UPK3A | c.622A>C (p.Met208Leu) c.259A>C (p.Met87Leu) c.628A>C (p.Met210Leu) c.265A>C (p.Met89Leu) | dbSNP gnomAD v4 |
22 | g.45293231A>G | CA10284493 | UPK3A | c.622A>G (p.Met208Val) c.259A>G (p.Met87Val) c.628A>G (p.Met210Val) c.265A>G (p.Met89Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293231A>T | CA411879217 | UPK3A | c.622A>T (p.Met208Leu) c.259A>T (p.Met87Leu) c.628A>T (p.Met210Leu) c.265A>T (p.Met89Leu) | |
22 | g.45293232T>A | CA411879221 | UPK3A | c.623T>A (p.Met208Lys) c.260T>A (p.Met87Lys) c.629T>A (p.Met210Lys) c.266T>A (p.Met89Lys) | |
22 | g.45293232T>C | CA411879224 | UPK3A | c.623T>C (p.Met208Thr) c.260T>C (p.Met87Thr) c.629T>C (p.Met210Thr) c.266T>C (p.Met89Thr) | dbSNP |
22 | g.45293232T>G | CA411879227 | UPK3A | c.623T>G (p.Met208Arg) c.260T>G (p.Met87Arg) c.629T>G (p.Met210Arg) c.266T>G (p.Met89Arg) | |
22 | g.45293232T= | CA2408185407 | UPK3A | c.623T= (p.Met208=) c.260T= (p.Met87=) c.629T= (p.Met210=) c.266T= (p.Met89=) |