Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.45293133G>ACA2657267226UPK3Ac.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
22g.45293133G>TCA2657267227UPK3Ac.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
22g.45293134A=CA2408185352UPK3Ac.572-47A= (n.572-47A=)
c.209-47A= (n.209-47A=)
c.578-47A= (n.578-47A=)
c.215-47A= (n.215-47A=)
22g.45293134A>GCA2657267228UPK3Ac.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
22g.45293134A>TCA10284459UPK3Ac.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
22g.45293135G>CCA2819158222UPK3Ac.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)
22g.45293135G>TCA2657267229UPK3Ac.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
22g.45293136G>ACA2657267230UPK3Ac.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
22g.45293136G>TCA2657267231UPK3Ac.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
22g.45293137G>ACA10284460UPK3Ac.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
22g.45293137G=CA2408185353UPK3Ac.572-44G= (n.572-44G=)
c.209-44G= (n.209-44G=)
c.578-44G= (n.578-44G=)
c.215-44G= (n.215-44G=)
22g.45293137G>TCA2657267232UPK3Ac.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
22g.45293138T>GCA2408185355UPK3Ac.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
22g.45293138T=CA2408185354UPK3Ac.572-43T= (n.572-43T=)
c.209-43T= (n.209-43T=)
c.578-43T= (n.578-43T=)
c.215-43T= (n.215-43T=)
22g.45293139G>CCA2657267233UPK3Ac.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
22g.45293139G>TCA2657267234UPK3Ac.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
22g.45293140G>TCA2657267235UPK3Ac.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
22g.45293142G>TCA2657267236UPK3Ac.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
22g.45293143C>ACA2580688525UPK3Ac.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
22g.45293143C=CA2408185356UPK3Ac.572-38C= (n.572-38C=)
c.209-38C= (n.209-38C=)
c.578-38C= (n.578-38C=)
c.215-38C= (n.215-38C=)
22g.45293143C>GCA2580688526UPK3Ac.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)
22g.45293143C>TCA10284461UPK3Ac.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
22g.45293144G>ACA10284462UPK3Ac.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
22g.45293144G>CCA325067047UPK3Ac.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
22g.45293144G=CA2408185357UPK3Ac.572-37G= (n.572-37G=)
c.209-37G= (n.209-37G=)
c.578-37G= (n.578-37G=)
c.215-37G= (n.215-37G=)
22g.45293144G>TCA2657267237UPK3Ac.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
22g.45293145G>ACA2657267238UPK3Ac.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
22g.45293145G>TCA2657267239UPK3Ac.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
22g.45293147G>ACA639614089UPK3Ac.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
22g.45293147G=CA2408185358UPK3Ac.572-34G= (n.572-34G=)
c.209-34G= (n.209-34G=)
c.578-34G= (n.578-34G=)
c.215-34G= (n.215-34G=)
22g.45293147G>TCA2657267240UPK3Ac.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
22g.45293148T>CCA10284463UPK3Ac.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
22g.45293148T=CA2408185359UPK3Ac.572-33T= (n.572-33T=)
c.209-33T= (n.209-33T=)
c.578-33T= (n.578-33T=)
c.215-33T= (n.215-33T=)
22g.45293149C>ACA2657267241UPK3Ac.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
22g.45293149C=CA2408185360UPK3Ac.572-32C= (n.572-32C=)
c.209-32C= (n.209-32C=)
c.578-32C= (n.578-32C=)
c.215-32C= (n.215-32C=)
22g.45293149C>TCA325067060UPK3Ac.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
22g.45293151G>TCA2657267242UPK3Ac.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
22g.45293152G>ACA10284464UPK3Ac.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
22g.45293152G=CA2408185361UPK3Ac.572-29G= (n.572-29G=)
c.209-29G= (n.209-29G=)
c.578-29G= (n.578-29G=)
c.215-29G= (n.215-29G=)
22g.45293153G>ACA10284465UPK3Ac.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
22g.45293153G>CCA753582927UPK3Ac.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
22g.45293153G=CA2408185362UPK3Ac.572-28G= (n.572-28G=)
c.209-28G= (n.209-28G=)
c.578-28G= (n.578-28G=)
c.215-28G= (n.215-28G=)
22g.45293153G>TCA2657267243UPK3Ac.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
22g.45293154A=CA2408185363UPK3Ac.572-27A= (n.572-27A=)
c.209-27A= (n.209-27A=)
c.578-27A= (n.578-27A=)
c.215-27A= (n.215-27A=)
22g.45293154A>CCA10284466UPK3Ac.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
22g.45293155A>TCA2657267244UPK3Ac.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
22g.45293156G>ACA10284467UPK3Ac.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
22g.45293156G=CA2408185364UPK3Ac.572-25G= (n.572-25G=)
c.209-25G= (n.209-25G=)
c.578-25G= (n.578-25G=)
c.215-25G= (n.215-25G=)
22g.45293156G>TCA639614098UPK3Ac.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
22g.45293158A>GCA2738344268UPK3Ac.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
22g.45293160C>ACA2819158223UPK3Ac.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)
22g.45293160C=CA2408185365UPK3Ac.572-21C= (n.572-21C=)
c.209-21C= (n.209-21C=)
c.578-21C= (n.578-21C=)
c.215-21C= (n.215-21C=)
22g.45293160C>TCA10284468UPK3Ac.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
22g.45293161C>ACA2577748619UPK3Ac.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)
22g.45293161C=CA2408185366UPK3Ac.572-20C= (n.572-20C=)
c.209-20C= (n.209-20C=)
c.578-20C= (n.578-20C=)
c.215-20C= (n.215-20C=)
22g.45293161C>GCA10284469UPK3Ac.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
22g.45293161C>TCA10284470UPK3Ac.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
22g.45293162G>ACA325067111UPK3Ac.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
22g.45293162G>CCA10284471UPK3Ac.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
22g.45293162G=CA2408185367UPK3Ac.572-19G= (n.572-19G=)
c.209-19G= (n.209-19G=)
c.578-19G= (n.578-19G=)
c.215-19G= (n.215-19G=)
22g.45293163G>ACA753582935UPK3Ac.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
22g.45293163G=CA2408185368UPK3Ac.572-18G= (n.572-18G=)
c.209-18G= (n.209-18G=)
c.578-18G= (n.578-18G=)
c.215-18G= (n.215-18G=)
22g.45293165C=CA2408185369UPK3Ac.572-16C= (n.572-16C=)
c.209-16C= (n.209-16C=)
c.578-16C= (n.578-16C=)
c.215-16C= (n.215-16C=)
22g.45293165C>GCA10284472UPK3Ac.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
22g.45293167G>ACA2657267245UPK3Ac.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
22g.45293167G>TCA2657267246UPK3Ac.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
22g.45293168C=CA2408185370UPK3Ac.572-13C= (n.572-13C=)
c.209-13C= (n.209-13C=)
c.578-13C= (n.578-13C=)
c.215-13C= (n.215-13C=)
22g.45293168C>TCA10284473UPK3Ac.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
22g.45293169A=CA2408185371UPK3Ac.572-12A= (n.572-12A=)
c.209-12A= (n.209-12A=)
c.578-12A= (n.578-12A=)
c.215-12A= (n.215-12A=)
22g.45293169A>TCA2408185372UPK3Ac.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
22g.45293171C>TCA2577748620UPK3Ac.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
22g.45293172C>ACA639614105UPK3Ac.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
22g.45293172C=CA2408185373UPK3Ac.572-9C= (n.572-9C=)
c.209-9C= (n.209-9C=)
c.578-9C= (n.578-9C=)
c.215-9C= (n.215-9C=)
22g.45293173C>ACA645614209UPK3Ac.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
22g.45293175C>ACA2657267247UPK3Ac.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
22g.45293175C=CA2408185375UPK3Ac.572-6C= (n.572-6C=)
c.209-6C= (n.209-6C=)
c.578-6C= (n.578-6C=)
c.215-6C= (n.215-6C=)
22g.45293175C>TCA10284474UPK3Ac.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
22g.45293175_45293177delinsCCACA2408185374UPK3Ac.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)
22g.45293176C=CA2408185376UPK3Ac.572-5C= (n.572-5C=)
c.209-5C= (n.209-5C=)
c.578-5C= (n.578-5C=)
c.215-5C= (n.215-5C=)
22g.45293176C>TCA10284475UPK3Ac.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
22g.45293178_45293179delCA753582952UPK3Ac.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
22g.45293178C>TCA2577748621UPK3Ac.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
22g.45293179A>CCA411878934UPK3Ac.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)
22g.45293179A>GCA411878937UPK3Ac.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)
22g.45293179A>TCA411878940UPK3Ac.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)
22g.45293180G>ACA10284476UPK3Ac.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
22g.45293180G>CCA411878947UPK3Ac.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)
22g.45293180G=CA2408185377UPK3Ac.572-1G= (n.572-1G=)
c.209-1G= (n.209-1G=)
c.578-1G= (n.578-1G=)
c.215-1G= (n.215-1G=)
22g.45293180G>TCA411878944UPK3Ac.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)
22g.45293181T>ACA411878954UPK3Ac.572T>A (p.Leu191His)
c.209T>A (p.Val70Asp)
c.578T>A (p.Leu193His)
c.215T>A (p.Val72Asp)
22g.45293181T>CCA411878950UPK3Ac.572T>C (p.Leu191Pro)
c.209T>C (p.Val70Ala)
c.578T>C (p.Leu193Pro)
c.215T>C (p.Val72Ala)
 gnomAD v4
22g.45293181T>GCA411878953UPK3Ac.572T>G (p.Leu191Arg)
c.209T>G (p.Val70Gly)
c.578T>G (p.Leu193Arg)
c.215T>G (p.Val72Gly)
22g.45293182C>ACA514882663UPK3Ac.573C>A (p.Leu191=)
c.210C>A (p.Val70=)
c.579C>A (p.Leu193=)
c.216C>A (p.Val72=)
22g.45293182C>GCA514882664UPK3Ac.573C>G (p.Leu191=)
c.210C>G (p.Val70=)
c.579C>G (p.Leu193=)
c.216C>G (p.Val72=)
22g.45293182C>TCA514882665UPK3Ac.573C>T (p.Leu191=)
c.210C>T (p.Val70=)
c.579C>T (p.Leu193=)
c.216C>T (p.Val72=)
22g.45293183A>CCA411878957UPK3Ac.574A>C (p.Thr192Pro)
c.211A>C (p.Thr71Pro)
c.580A>C (p.Thr194Pro)
c.217A>C (p.Thr73Pro)
22g.45293183A>GCA411878960UPK3Ac.574A>G (p.Thr192Ala)
c.211A>G (p.Thr71Ala)
c.580A>G (p.Thr194Ala)
c.217A>G (p.Thr73Ala)
22g.45293183A>TCA411878962UPK3Ac.574A>T (p.Thr192Ser)
c.211A>T (p.Thr71Ser)
c.580A>T (p.Thr194Ser)
c.217A>T (p.Thr73Ser)
22g.45293184C>ACA411878970UPK3Ac.575C>A (p.Thr192Asn)
c.212C>A (p.Thr71Asn)
c.581C>A (p.Thr194Asn)
c.218C>A (p.Thr73Asn)
22g.45293184C>GCA411878968UPK3Ac.575C>G (p.Thr192Ser)
c.212C>G (p.Thr71Ser)
c.581C>G (p.Thr194Ser)
c.218C>G (p.Thr73Ser)
22g.45293184C>TCA411878965UPK3Ac.575C>T (p.Thr192Ile)
c.212C>T (p.Thr71Ile)
c.581C>T (p.Thr194Ile)
c.218C>T (p.Thr73Ile)
 gnomAD v4
22g.45293185C>ACA514882666UPK3Ac.576C>A (p.Thr192=)
c.213C>A (p.Thr71=)
c.582C>A (p.Thr194=)
c.219C>A (p.Thr73=)
22g.45293185C=CA2408185378UPK3Ac.576C= (p.Thr192=)
c.213C= (p.Thr71=)
c.582C= (p.Thr194=)
c.219C= (p.Thr73=)
22g.45293185C>GCA514882667UPK3Ac.576C>G (p.Thr192=)
c.213C>G (p.Thr71=)
c.582C>G (p.Thr194=)
c.219C>G (p.Thr73=)
 dbSNP
22g.45293185C>TCA514882668UPK3Ac.576C>T (p.Thr192=)
c.213C>T (p.Thr71=)
c.582C>T (p.Thr194=)
c.219C>T (p.Thr73=)
22g.45293186C>ACA411878973UPK3Ac.577C>A (p.Pro193Thr)
c.214C>A (p.Pro72Thr)
c.583C>A (p.Pro195Thr)
c.220C>A (p.Pro74Thr)
22g.45293186C>GCA411878975UPK3Ac.577C>G (p.Pro193Ala)
c.214C>G (p.Pro72Ala)
c.583C>G (p.Pro195Ala)
c.220C>G (p.Pro74Ala)
22g.45293186C>TCA411878978UPK3Ac.577C>T (p.Pro193Ser)
c.214C>T (p.Pro72Ser)
c.583C>T (p.Pro195Ser)
c.220C>T (p.Pro74Ser)
22g.45293187C>ACA411878980UPK3Ac.578C>A (p.Pro193Gln)
c.215C>A (p.Pro72Gln)
c.584C>A (p.Pro195Gln)
c.221C>A (p.Pro74Gln)
22g.45293187C=CA2408185379UPK3Ac.578C= (p.Pro193=)
c.215C= (p.Pro72=)
c.584C= (p.Pro195=)
c.221C= (p.Pro74=)
22g.45293187C>GCA411878983UPK3Ac.578C>G (p.Pro193Arg)
c.215C>G (p.Pro72Arg)
c.584C>G (p.Pro195Arg)
c.221C>G (p.Pro74Arg)
22g.45293187C>TCA10284477UPK3Ac.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
22g.45293188A>CCA514882669UPK3Ac.579A>C (p.Pro193=)
c.216A>C (p.Pro72=)
c.585A>C (p.Pro195=)
c.222A>C (p.Pro74=)
 gnomAD v4
22g.45293188A>GCA514882670UPK3Ac.579A>G (p.Pro193=)
c.216A>G (p.Pro72=)
c.585A>G (p.Pro195=)
c.222A>G (p.Pro74=)
22g.45293188A>TCA514882671UPK3Ac.579A>T (p.Pro193=)
c.216A>T (p.Pro72=)
c.585A>T (p.Pro195=)
c.222A>T (p.Pro74=)
22g.45293189T>ACA411878993UPK3Ac.580T>A (p.Tyr194Asn)
c.217T>A (p.Tyr73Asn)
c.586T>A (p.Tyr196Asn)
c.223T>A (p.Tyr75Asn)
22g.45293189T>CCA411878989UPK3Ac.580T>C (p.Tyr194His)
c.217T>C (p.Tyr73His)
c.586T>C (p.Tyr196His)
c.223T>C (p.Tyr75His)
22g.45293189T>GCA411878991UPK3Ac.580T>G (p.Tyr194Asp)
c.217T>G (p.Tyr73Asp)
c.586T>G (p.Tyr196Asp)
c.223T>G (p.Tyr75Asp)
22g.45293190A>CCA411878995UPK3Ac.581A>C (p.Tyr194Ser)
c.218A>C (p.Tyr73Ser)
c.587A>C (p.Tyr196Ser)
c.224A>C (p.Tyr75Ser)
22g.45293190A>GCA411878998UPK3Ac.581A>G (p.Tyr194Cys)
c.218A>G (p.Tyr73Cys)
c.587A>G (p.Tyr196Cys)
c.224A>G (p.Tyr75Cys)
22g.45293190A>TCA411878999UPK3Ac.581A>T (p.Tyr194Phe)
c.218A>T (p.Tyr73Phe)
c.587A>T (p.Tyr196Phe)
c.224A>T (p.Tyr75Phe)
22g.45293191C>ACA411879003UPK3Ac.582C>A (p.Tyr194Ter)
c.219C>A (p.Tyr73Ter)
c.588C>A (p.Tyr196Ter)
c.225C>A (p.Tyr75Ter)
22g.45293191C>GCA411879006UPK3Ac.582C>G (p.Tyr194Ter)
c.219C>G (p.Tyr73Ter)
c.588C>G (p.Tyr196Ter)
c.225C>G (p.Tyr75Ter)
22g.45293191C>TCA514882673UPK3Ac.582C>T (p.Tyr194=)
c.219C>T (p.Tyr73=)
c.588C>T (p.Tyr196=)
c.225C>T (p.Tyr75=)
 gnomAD v4
22g.45293192T>ACA411879007UPK3Ac.583T>A (p.Ser195Thr)
c.220T>A (p.Ser74Thr)
c.589T>A (p.Ser197Thr)
c.226T>A (p.Ser76Thr)
22g.45293192T>CCA411879008UPK3Ac.583T>C (p.Ser195Pro)
c.220T>C (p.Ser74Pro)
c.589T>C (p.Ser197Pro)
c.226T>C (p.Ser76Pro)
22g.45293192T>GCA411879009UPK3Ac.583T>G (p.Ser195Ala)
c.220T>G (p.Ser74Ala)
c.589T>G (p.Ser197Ala)
c.226T>G (p.Ser76Ala)
22g.45293193C>ACA411879011UPK3Ac.584C>A (p.Ser195Ter)
c.221C>A (p.Ser74Ter)
c.590C>A (p.Ser197Ter)
c.227C>A (p.Ser76Ter)
22g.45293193C=CA2408185380UPK3Ac.584C= (p.Ser195=)
c.221C= (p.Ser74=)
c.590C= (p.Ser197=)
c.227C= (p.Ser76=)
22g.45293193C>GCA411879012UPK3Ac.584C>G (p.Ser195Trp)
c.221C>G (p.Ser74Trp)
c.590C>G (p.Ser197Trp)
c.227C>G (p.Ser76Trp)
 gnomAD v4
22g.45293193C>TCA10284478UPK3Ac.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
22g.45293194G>ACA10284479UPK3Ac.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
22g.45293194G>CCA514882674UPK3Ac.585G>C (p.Ser195=)
c.222G>C (p.Ser74=)
c.591G>C (p.Ser197=)
c.228G>C (p.Ser76=)
22g.45293194G=CA2408185381UPK3Ac.585G= (p.Ser195=)
c.222G= (p.Ser74=)
c.591G= (p.Ser197=)
c.228G= (p.Ser76=)
22g.45293194G>TCA514882675UPK3Ac.585G>T (p.Ser195=)
c.222G>T (p.Ser74=)
c.591G>T (p.Ser197=)
c.228G>T (p.Ser76=)
22g.45293195A>CCA411879017UPK3Ac.586A>C (p.Thr196Pro)
c.223A>C (p.Thr75Pro)
c.592A>C (p.Thr198Pro)
c.229A>C (p.Thr77Pro)
22g.45293195A>GCA411879020UPK3Ac.586A>G (p.Thr196Ala)
c.223A>G (p.Thr75Ala)
c.592A>G (p.Thr198Ala)
c.229A>G (p.Thr77Ala)
22g.45293195A>TCA411879018UPK3Ac.586A>T (p.Thr196Ser)
c.223A>T (p.Thr75Ser)
c.592A>T (p.Thr198Ser)
c.229A>T (p.Thr77Ser)
22g.45293196C>ACA411879021UPK3Ac.587C>A (p.Thr196Lys)
c.224C>A (p.Thr75Lys)
c.593C>A (p.Thr198Lys)
c.230C>A (p.Thr77Lys)
 gnomAD v4
22g.45293196C=CA2408185382UPK3Ac.587C= (p.Thr196=)
c.224C= (p.Thr75=)
c.593C= (p.Thr198=)
c.230C= (p.Thr77=)
22g.45293196C>GCA411879024UPK3Ac.587C>G (p.Thr196Arg)
c.224C>G (p.Thr75Arg)
c.593C>G (p.Thr198Arg)
c.230C>G (p.Thr77Arg)
 dbSNP gnomAD v4
22g.45293196C>TCA10284480UPK3Ac.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
22g.45293197G>ACA10284481UPK3Ac.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
22g.45293197G>CCA514882676UPK3Ac.588G>C (p.Thr196=)
c.225G>C (p.Thr75=)
c.594G>C (p.Thr198=)
c.231G>C (p.Thr77=)
22g.45293197G=CA2408185383UPK3Ac.588G= (p.Thr196=)
c.225G= (p.Thr75=)
c.594G= (p.Thr198=)
c.231G= (p.Thr77=)
22g.45293197G>TCA514882677UPK3Ac.588G>T (p.Thr196=)
c.225G>T (p.Thr75=)
c.594G>T (p.Thr198=)
c.231G>T (p.Thr77=)
22g.45293198A>CCA411879029UPK3Ac.589A>C (p.Ile197Leu)
c.226A>C (p.Ile76Leu)
c.595A>C (p.Ile199Leu)
c.232A>C (p.Ile78Leu)
22g.45293198A>GCA411879030UPK3Ac.589A>G (p.Ile197Val)
c.226A>G (p.Ile76Val)
c.595A>G (p.Ile199Val)
c.232A>G (p.Ile78Val)
22g.45293198A>TCA411879033UPK3Ac.589A>T (p.Ile197Phe)
c.226A>T (p.Ile76Phe)
c.595A>T (p.Ile199Phe)
c.232A>T (p.Ile78Phe)
22g.45293198_45293199insAGAAGATAGCATCCTTAATGTGAACAGCTTTCA2657267248UPK3Ac.589_590insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile197LysfsTer8)
c.226_227insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile76LysfsTer8)
c.595_596insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile199LysfsTer8)
c.232_233insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile78LysfsTer8)
 gnomAD v4
22g.45293199T>ACA411879037UPK3Ac.590T>A (p.Ile197Asn)
c.227T>A (p.Ile76Asn)
c.596T>A (p.Ile199Asn)
c.233T>A (p.Ile78Asn)
22g.45293199T>CCA411879039UPK3Ac.590T>C (p.Ile197Thr)
c.227T>C (p.Ile76Thr)
c.596T>C (p.Ile199Thr)
c.233T>C (p.Ile78Thr)
22g.45293199T>GCA411879041UPK3Ac.590T>G (p.Ile197Ser)
c.227T>G (p.Ile76Ser)
c.596T>G (p.Ile199Ser)
c.233T>G (p.Ile78Ser)
22g.45293200C>ACA514882678UPK3Ac.591C>A (p.Ile197=)
c.228C>A (p.Ile76=)
c.597C>A (p.Ile199=)
c.234C>A (p.Ile78=)
 dbSNP gnomAD v2
22g.45293200C=CA2408185384UPK3Ac.591C= (p.Ile197=)
c.228C= (p.Ile76=)
c.597C= (p.Ile199=)
c.234C= (p.Ile78=)
22g.45293200C>GCA411879043UPK3Ac.591C>G (p.Ile197Met)
c.228C>G (p.Ile76Met)
c.597C>G (p.Ile199Met)
c.234C>G (p.Ile78Met)
 gnomAD v4
22g.45293200C>TCA514882679UPK3Ac.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
22g.45293201G>ACA411879052UPK3Ac.592G>A (p.Asp198Asn)
c.229G>A (p.Asp77Asn)
c.598G>A (p.Asp200Asn)
c.235G>A (p.Asp79Asn)
 dbSNP gnomAD v4
22g.45293201G>CCA411879049UPK3Ac.592G>C (p.Asp198His)
c.229G>C (p.Asp77His)
c.598G>C (p.Asp200His)
c.235G>C (p.Asp79His)
22g.45293201G=CA2408185385UPK3Ac.592G= (p.Asp198=)
c.229G= (p.Asp77=)
c.598G= (p.Asp200=)
c.235G= (p.Asp79=)
22g.45293201G>TCA411879046UPK3Ac.592G>T (p.Asp198Tyr)
c.229G>T (p.Asp77Tyr)
c.598G>T (p.Asp200Tyr)
c.235G>T (p.Asp79Tyr)
22g.45293202A>CCA411879054UPK3Ac.593A>C (p.Asp198Ala)
c.230A>C (p.Asp77Ala)
c.599A>C (p.Asp200Ala)
c.236A>C (p.Asp79Ala)
22g.45293202A>GCA411879057UPK3Ac.593A>G (p.Asp198Gly)
c.230A>G (p.Asp77Gly)
c.599A>G (p.Asp200Gly)
c.236A>G (p.Asp79Gly)
22g.45293202A>TCA411879060UPK3Ac.593A>T (p.Asp198Val)
c.230A>T (p.Asp77Val)
c.599A>T (p.Asp200Val)
c.236A>T (p.Asp79Val)
22g.45293203C>ACA325067174UPK3Ac.594C>A (p.Asp198Glu)
c.231C>A (p.Asp77Glu)
c.600C>A (p.Asp200Glu)
c.237C>A (p.Asp79Glu)
 dbSNP gnomAD v4
22g.45293203C=CA2408185386UPK3Ac.594C= (p.Asp198=)
c.231C= (p.Asp77=)
c.600C= (p.Asp200=)
c.237C= (p.Asp79=)
22g.45293203C>GCA411879064UPK3Ac.594C>G (p.Asp198Glu)
c.231C>G (p.Asp77Glu)
c.600C>G (p.Asp200Glu)
c.237C>G (p.Asp79Glu)
22g.45293203C>TCA514882680UPK3Ac.594C>T (p.Asp198=)
c.231C>T (p.Asp77=)
c.600C>T (p.Asp200=)
c.237C>T (p.Asp79=)
 gnomAD v4
22g.45293204A=CA2408185387UPK3Ac.595A= (p.Thr199=)
c.232A= (p.Thr78=)
c.601A= (p.Thr201=)
c.238A= (p.Thr80=)
22g.45293204A>CCA411879067UPK3Ac.595A>C (p.Thr199Pro)
c.232A>C (p.Thr78Pro)
c.601A>C (p.Thr201Pro)
c.238A>C (p.Thr80Pro)
 dbSNP gnomAD v2 gnomAD v4
22g.45293204A>GCA411879070UPK3Ac.595A>G (p.Thr199Ala)
c.232A>G (p.Thr78Ala)
c.601A>G (p.Thr201Ala)
c.238A>G (p.Thr80Ala)
22g.45293204A>TCA411879072UPK3Ac.595A>T (p.Thr199Ser)
c.232A>T (p.Thr78Ser)
c.601A>T (p.Thr201Ser)
c.238A>T (p.Thr80Ser)
22g.45293205C>ACA411879074UPK3Ac.596C>A (p.Thr199Lys)
c.233C>A (p.Thr78Lys)
c.602C>A (p.Thr201Lys)
c.239C>A (p.Thr80Lys)
 dbSNP gnomAD v3 gnomAD v4
22g.45293205C=CA2408185388UPK3Ac.596C= (p.Thr199=)
c.233C= (p.Thr78=)
c.602C= (p.Thr201=)
c.239C= (p.Thr80=)
22g.45293205C>GCA325067185UPK3Ac.596C>G (p.Thr199Arg)
c.233C>G (p.Thr78Arg)
c.602C>G (p.Thr201Arg)
c.239C>G (p.Thr80Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.45293205C>TCA10284482UPK3Ac.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
22g.45293206G>ACA10284483UPK3Ac.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
22g.45293206G>CCA514882681UPK3Ac.597G>C (p.Thr199=)
c.234G>C (p.Thr78=)
c.603G>C (p.Thr201=)
c.240G>C (p.Thr80=)
22g.45293206G=CA2408185389UPK3Ac.597G= (p.Thr199=)
c.234G= (p.Thr78=)
c.603G= (p.Thr201=)
c.240G= (p.Thr80=)
22g.45293206G>TCA514882682UPK3Ac.597G>T (p.Thr199=)
c.234G>T (p.Thr78=)
c.603G>T (p.Thr201=)
c.240G>T (p.Thr80=)
22g.45293207T>ACA411879083UPK3Ac.598T>A (p.Trp200Arg)
c.235T>A (p.Trp79Arg)
c.604T>A (p.Trp202Arg)
c.241T>A (p.Trp81Arg)
22g.45293207T>CCA411879087UPK3Ac.598T>C (p.Trp200Arg)
c.235T>C (p.Trp79Arg)
c.604T>C (p.Trp202Arg)
c.241T>C (p.Trp81Arg)
 gnomAD v4
22g.45293207T>GCA411879082UPK3Ac.598T>G (p.Trp200Gly)
c.235T>G (p.Trp79Gly)
c.604T>G (p.Trp202Gly)
c.241T>G (p.Trp81Gly)
22g.45293208G>ACA411879094UPK3Ac.599G>A (p.Trp200Ter)
c.236G>A (p.Trp79Ter)
c.605G>A (p.Trp202Ter)
c.242G>A (p.Trp81Ter)
22g.45293208G>CCA411879089UPK3Ac.599G>C (p.Trp200Ser)
c.236G>C (p.Trp79Ser)
c.605G>C (p.Trp202Ser)
c.242G>C (p.Trp81Ser)
22g.45293208G>TCA411879092UPK3Ac.599G>T (p.Trp200Leu)
c.236G>T (p.Trp79Leu)
c.605G>T (p.Trp202Leu)
c.242G>T (p.Trp81Leu)
22g.45293209G>ACA411879097UPK3Ac.600G>A (p.Trp200Ter)
c.237G>A (p.Trp79Ter)
c.606G>A (p.Trp202Ter)
c.243G>A (p.Trp81Ter)
22g.45293209G>CCA411879098UPK3Ac.600G>C (p.Trp200Cys)
c.237G>C (p.Trp79Cys)
c.606G>C (p.Trp202Cys)
c.243G>C (p.Trp81Cys)
22g.45293209G>TCA411879101UPK3Ac.600G>T (p.Trp200Cys)
c.237G>T (p.Trp79Cys)
c.606G>T (p.Trp202Cys)
c.243G>T (p.Trp81Cys)
22g.45293210C>ACA411879105UPK3Ac.601C>A (p.Pro201Thr)
c.238C>A (p.Pro80Thr)
c.607C>A (p.Pro203Thr)
c.244C>A (p.Pro82Thr)
22g.45293210C>GCA411879107UPK3Ac.601C>G (p.Pro201Ala)
c.238C>G (p.Pro80Ala)
c.607C>G (p.Pro203Ala)
c.244C>G (p.Pro82Ala)
22g.45293210C>TCA411879110UPK3Ac.601C>T (p.Pro201Ser)
c.238C>T (p.Pro80Ser)
c.607C>T (p.Pro203Ser)
c.244C>T (p.Pro82Ser)
 gnomAD v4 COSMIC
22g.45293211C>ACA411879113UPK3Ac.602C>A (p.Pro201Gln)
c.239C>A (p.Pro80Gln)
c.608C>A (p.Pro203Gln)
c.245C>A (p.Pro82Gln)
22g.45293211C=CA2408185391UPK3Ac.602C= (p.Pro201=)
c.239C= (p.Pro80=)
c.608C= (p.Pro203=)
c.245C= (p.Pro82=)
22g.45293211C>GCA411879115UPK3Ac.602C>G (p.Pro201Arg)
c.239C>G (p.Pro80Arg)
c.608C>G (p.Pro203Arg)
c.245C>G (p.Pro82Arg)
22g.45293211C>TCA411879117UPK3Ac.602C>T (p.Pro201Leu)
c.239C>T (p.Pro80Leu)
c.608C>T (p.Pro203Leu)
c.245C>T (p.Pro82Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.45293211_45293213delinsCAGCA2408185390UPK3Ac.602_604delinsCAG (p.Pro201=)
c.239_241delinsCAG (p.Pro80=)
c.608_610delinsCAG (p.Pro203=)
c.245_247delinsCAG (p.Pro82=)
22g.45293212A>CCA514882690UPK3Ac.603A>C (p.Pro201=)
c.240A>C (p.Pro80=)
c.609A>C (p.Pro203=)
c.246A>C (p.Pro82=)
22g.45293212A>GCA514882689UPK3Ac.603A>G (p.Pro201=)
c.240A>G (p.Pro80=)
c.609A>G (p.Pro203=)
c.246A>G (p.Pro82=)
22g.45293212A>TCA514882687UPK3Ac.603A>T (p.Pro201=)
c.240A>T (p.Pro80=)
c.609A>T (p.Pro203=)
c.246A>T (p.Pro82=)
22g.45293212_45293213delCA514882688UPK3Ac.603_604del (p.Gly202ProfsTer?)
c.240_241del (p.Gly81ProfsTer?)
c.609_610del (p.Gly204ProfsTer?)
c.246_247del (p.Gly83ProfsTer?)
 dbSNP
22g.45293213G>ACA411879128UPK3Ac.604G>A (p.Gly202Ser)
c.241G>A (p.Gly81Ser)
c.610G>A (p.Gly204Ser)
c.247G>A (p.Gly83Ser)
22g.45293213G>CCA411879125UPK3Ac.604G>C (p.Gly202Arg)
c.241G>C (p.Gly81Arg)
c.610G>C (p.Gly204Arg)
c.247G>C (p.Gly83Arg)
22g.45293213G>TCA411879120UPK3Ac.604G>T (p.Gly202Cys)
c.241G>T (p.Gly81Cys)
c.610G>T (p.Gly204Cys)
c.247G>T (p.Gly83Cys)
22g.45293213_45293214delCA411879123UPK3Ac.604_605del (p.Gly202ProfsTer?)
c.241_242del (p.Gly81ProfsTer?)
c.610_611del (p.Gly204ProfsTer?)
c.247_248del (p.Gly83ProfsTer?)
22g.45293214G>ACA114597UPK3Ac.605G>A (p.Gly202Asp)
c.242G>A (p.Gly81Asp)
c.611G>A (p.Gly204Asp)
c.248G>A (p.Gly83Asp)
 ClinVar dbSNP
22g.45293214G>CCA411879130UPK3Ac.605G>C (p.Gly202Ala)
c.242G>C (p.Gly81Ala)
c.611G>C (p.Gly204Ala)
c.248G>C (p.Gly83Ala)
22g.45293214G=CA2408185392UPK3Ac.605G= (p.Gly202=)
c.242G= (p.Gly81=)
c.611G= (p.Gly204=)
c.248G= (p.Gly83=)
22g.45293214G>TCA411879133UPK3Ac.605G>T (p.Gly202Val)
c.242G>T (p.Gly81Val)
c.611G>T (p.Gly204Val)
c.248G>T (p.Gly83Val)
22g.45293215C>ACA514882692UPK3Ac.606C>A (p.Gly202=)
c.243C>A (p.Gly81=)
c.612C>A (p.Gly204=)
c.249C>A (p.Gly83=)
22g.45293215C=CA2408185393UPK3Ac.606C= (p.Gly202=)
c.243C= (p.Gly81=)
c.612C= (p.Gly204=)
c.249C= (p.Gly83=)
22g.45293215C>GCA514882693UPK3Ac.606C>G (p.Gly202=)
c.243C>G (p.Gly81=)
c.612C>G (p.Gly204=)
c.249C>G (p.Gly83=)
22g.45293215C>TCA514882695UPK3Ac.606C>T (p.Gly202=)
c.243C>T (p.Gly81=)
c.612C>T (p.Gly204=)
c.249C>T (p.Gly83=)
 dbSNP
22g.45293216C>ACA10284485UPK3Ac.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
22g.45293216C=CA2408185394UPK3Ac.607C= (p.Arg203=)
c.244C= (p.Arg82=)
c.613C= (p.Arg205=)
c.250C= (p.Arg84=)
22g.45293216C>GCA411879137UPK3Ac.607C>G (p.Arg203Gly)
c.244C>G (p.Arg82Gly)
c.613C>G (p.Arg205Gly)
c.250C>G (p.Arg84Gly)
 gnomAD v4
22g.45293216C>TCA10284484UPK3Ac.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
22g.45293217G>ACA325067272UPK3Ac.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
22g.45293217G>CCA411879143UPK3Ac.608G>C (p.Arg203Pro)
c.245G>C (p.Arg82Pro)
c.614G>C (p.Arg205Pro)
c.251G>C (p.Arg84Pro)
22g.45293217G=CA2408185395UPK3Ac.608G= (p.Arg203=)
c.245G= (p.Arg82=)
c.614G= (p.Arg205=)
c.251G= (p.Arg84=)
22g.45293217G>TCA411879146UPK3Ac.608G>T (p.Arg203Leu)
c.245G>T (p.Arg82Leu)
c.614G>T (p.Arg205Leu)
c.251G>T (p.Arg84Leu)
22g.45293218G>ACA514882697UPK3Ac.609G>A (p.Arg203=)
c.246G>A (p.Arg82=)
c.615G>A (p.Arg205=)
c.252G>A (p.Arg84=)
22g.45293218G>CCA514882698UPK3Ac.609G>C (p.Arg203=)
c.246G>C (p.Arg82=)
c.615G>C (p.Arg205=)
c.252G>C (p.Arg84=)
22g.45293218G>TCA514882699UPK3Ac.609G>T (p.Arg203=)
c.246G>T (p.Arg82=)
c.615G>T (p.Arg205=)
c.252G>T (p.Arg84=)
22g.45293219C>ACA10284487UPK3Ac.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
22g.45293219C=CA2408185396UPK3Ac.610C= (p.Arg204=)
c.247C= (p.Arg83=)
c.616C= (p.Arg206=)
c.253C= (p.Arg85=)
22g.45293219C>GCA411879150UPK3Ac.610C>G (p.Arg204Gly)
c.247C>G (p.Arg83Gly)
c.616C>G (p.Arg206Gly)
c.253C>G (p.Arg85Gly)
 gnomAD v4
22g.45293219C>TCA10284486UPK3Ac.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
22g.45293220G>ACA10284488UPK3Ac.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
22g.45293220G>CCA411879158UPK3Ac.611G>C (p.Arg204Pro)
c.248G>C (p.Arg83Pro)
c.617G>C (p.Arg206Pro)
c.254G>C (p.Arg85Pro)
22g.45293220G=CA2408185397UPK3Ac.611G= (p.Arg204=)
c.248G= (p.Arg83=)
c.617G= (p.Arg206=)
c.254G= (p.Arg85=)
22g.45293220G>TCA411879154UPK3Ac.611G>T (p.Arg204Leu)
c.248G>T (p.Arg83Leu)
c.617G>T (p.Arg206Leu)
c.254G>T (p.Arg85Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.45293221G>ACA10284489UPK3Ac.612G>A (p.Arg204=)
c.249G>A (p.Arg83=)
c.618G>A (p.Arg206=)
c.255G>A (p.Arg85=)
 dbSNP ExAC gnomAD v2
22g.45293221G>CCA514882703UPK3Ac.612G>C (p.Arg204=)
c.249G>C (p.Arg83=)
c.618G>C (p.Arg206=)
c.255G>C (p.Arg85=)
22g.45293221G=CA2408185398UPK3Ac.612G= (p.Arg204=)
c.249G= (p.Arg83=)
c.618G= (p.Arg206=)
c.255G= (p.Arg85=)
22g.45293221G>TCA514882704UPK3Ac.612G>T (p.Arg204=)
c.249G>T (p.Arg83=)
c.618G>T (p.Arg206=)
c.255G>T (p.Arg85=)
22g.45293222A>CCA411879164UPK3Ac.613A>C (p.Ser205Arg)
c.250A>C (p.Ser84Arg)
c.619A>C (p.Ser207Arg)
c.256A>C (p.Ser86Arg)
22g.45293222A>GCA411879167UPK3Ac.613A>G (p.Ser205Gly)
c.250A>G (p.Ser84Gly)
c.619A>G (p.Ser207Gly)
c.256A>G (p.Ser86Gly)
 gnomAD v4
22g.45293222A>TCA411879169UPK3Ac.613A>T (p.Ser205Cys)
c.250A>T (p.Ser84Cys)
c.619A>T (p.Ser207Cys)
c.256A>T (p.Ser86Cys)
22g.45293223G>ACA411879173UPK3Ac.614G>A (p.Ser205Asn)
c.251G>A (p.Ser84Asn)
c.620G>A (p.Ser207Asn)
c.257G>A (p.Ser86Asn)
22g.45293223G>CCA411879175UPK3Ac.614G>C (p.Ser205Thr)
c.251G>C (p.Ser84Thr)
c.620G>C (p.Ser207Thr)
c.257G>C (p.Ser86Thr)
22g.45293223G=CA2408185399UPK3Ac.614G= (p.Ser205=)
c.251G= (p.Ser84=)
c.620G= (p.Ser207=)
c.257G= (p.Ser86=)
22g.45293223G>TCA411879179UPK3Ac.614G>T (p.Ser205Ile)
c.251G>T (p.Ser84Ile)
c.620G>T (p.Ser207Ile)
c.257G>T (p.Ser86Ile)
 dbSNP gnomAD v3 gnomAD v4
22g.45293223_45293251delinsGCGGAGGCATGATCGTCATCACTTCCATCCA2408185400UPK3Ac.614_642delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser205=)
c.251_279delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser84=)
c.620_648delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser207=)
c.257_285delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser86=)
22g.45293224C>ACA411879182UPK3Ac.615C>A (p.Ser205Arg)
c.252C>A (p.Ser84Arg)
c.621C>A (p.Ser207Arg)
c.258C>A (p.Ser86Arg)
22g.45293224C=CA2408185402UPK3Ac.615C= (p.Ser205=)
c.252C= (p.Ser84=)
c.621C= (p.Ser207=)
c.258C= (p.Ser86=)
22g.45293224C>GCA411879184UPK3Ac.615C>G (p.Ser205Arg)
c.252C>G (p.Ser84Arg)
c.621C>G (p.Ser207Arg)
c.258C>G (p.Ser86Arg)
22g.45293224C>TCA10284490UPK3Ac.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
22g.45293224_45293231delCA1026219332UPK3Ac.615_622del (p.Gly206AspfsTer?)
c.252_259del (p.Gly85AspfsTer?)
c.621_628del (p.Gly208AspfsTer?)
c.258_265del (p.Gly87AspfsTer?)
 gnomAD v3 gnomAD v4
22g.45293225_45293252delCA2408185401UPK3Ac.616_643del (p.Gly206TrpfsTer?)
c.253_280del (p.Gly85TrpfsTer?)
c.622_649del (p.Gly208TrpfsTer?)
c.259_286del (p.Gly87TrpfsTer?)
 dbSNP
22g.45293225G>ACA10284491UPK3Ac.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
22g.45293225G>CCA411879189UPK3Ac.616G>C (p.Gly206Arg)
c.253G>C (p.Gly85Arg)
c.622G>C (p.Gly208Arg)
c.259G>C (p.Gly87Arg)
22g.45293225G=CA2408185403UPK3Ac.616G= (p.Gly206=)
c.253G= (p.Gly85=)
c.622G= (p.Gly208=)
c.259G= (p.Gly87=)
22g.45293225G>TCA411879191UPK3Ac.616G>T (p.Gly206Ter)
c.253G>T (p.Gly85Ter)
c.622G>T (p.Gly208Ter)
c.259G>T (p.Gly87Ter)
22g.45293226G>ACA411879195UPK3Ac.617G>A (p.Gly206Glu)
c.254G>A (p.Gly85Glu)
c.623G>A (p.Gly208Glu)
c.260G>A (p.Gly87Glu)
22g.45293226G>CCA411879198UPK3Ac.617G>C (p.Gly206Ala)
c.254G>C (p.Gly85Ala)
c.623G>C (p.Gly208Ala)
c.260G>C (p.Gly87Ala)
22g.45293226G=CA2408185404UPK3Ac.617G= (p.Gly206=)
c.254G= (p.Gly85=)
c.623G= (p.Gly208=)
c.260G= (p.Gly87=)
22g.45293226G>TCA10284492UPK3Ac.617G>T (p.Gly206Val)
c.254G>T (p.Gly85Val)
c.623G>T (p.Gly208Val)
c.260G>T (p.Gly87Val)
 dbSNP ExAC gnomAD v2
22g.45293227A>CCA514882706UPK3Ac.618A>C (p.Gly206=)
c.255A>C (p.Gly85=)
c.624A>C (p.Gly208=)
c.261A>C (p.Gly87=)
22g.45293227A>GCA514882707UPK3Ac.618A>G (p.Gly206=)
c.255A>G (p.Gly85=)
c.624A>G (p.Gly208=)
c.261A>G (p.Gly87=)
 gnomAD v4
22g.45293227A>TCA514882709UPK3Ac.618A>T (p.Gly206=)
c.255A>T (p.Gly85=)
c.624A>T (p.Gly208=)
c.261A>T (p.Gly87=)
22g.45293228G>ACA411879201UPK3Ac.619G>A (p.Gly207Ser)
c.256G>A (p.Gly86Ser)
c.625G>A (p.Gly209Ser)
c.262G>A (p.Gly88Ser)
 gnomAD v4
22g.45293228G>CCA411879203UPK3Ac.619G>C (p.Gly207Arg)
c.256G>C (p.Gly86Arg)
c.625G>C (p.Gly209Arg)
c.262G>C (p.Gly88Arg)
22g.45293228G>TCA411879205UPK3Ac.619G>T (p.Gly207Cys)
c.256G>T (p.Gly86Cys)
c.625G>T (p.Gly209Cys)
c.262G>T (p.Gly88Cys)
22g.45293229G>ACA325067327UPK3Ac.620G>A (p.Gly207Asp)
c.257G>A (p.Gly86Asp)
c.626G>A (p.Gly209Asp)
c.263G>A (p.Gly88Asp)
 dbSNP
22g.45293229G>CCA411879209UPK3Ac.620G>C (p.Gly207Ala)
c.257G>C (p.Gly86Ala)
c.626G>C (p.Gly209Ala)
c.263G>C (p.Gly88Ala)
22g.45293229G=CA2408185405UPK3Ac.620G= (p.Gly207=)
c.257G= (p.Gly86=)
c.626G= (p.Gly209=)
c.263G= (p.Gly88=)
22g.45293229G>TCA411879212UPK3Ac.620G>T (p.Gly207Val)
c.257G>T (p.Gly86Val)
c.626G>T (p.Gly209Val)
c.263G>T (p.Gly88Val)
22g.45293230C>ACA514882710UPK3Ac.621C>A (p.Gly207=)
c.258C>A (p.Gly86=)
c.627C>A (p.Gly209=)
c.264C>A (p.Gly88=)
22g.45293230C>GCA514882711UPK3Ac.621C>G (p.Gly207=)
c.258C>G (p.Gly86=)
c.627C>G (p.Gly209=)
c.264C>G (p.Gly88=)
22g.45293230C>TCA514882713UPK3Ac.621C>T (p.Gly207=)
c.258C>T (p.Gly86=)
c.627C>T (p.Gly209=)
c.264C>T (p.Gly88=)
 gnomAD v4
22g.45293231A=CA2408185406UPK3Ac.622A= (p.Met208=)
c.259A= (p.Met87=)
c.628A= (p.Met210=)
c.265A= (p.Met89=)
22g.45293231A>CCA325067330UPK3Ac.622A>C (p.Met208Leu)
c.259A>C (p.Met87Leu)
c.628A>C (p.Met210Leu)
c.265A>C (p.Met89Leu)
 dbSNP gnomAD v4
22g.45293231A>GCA10284493UPK3Ac.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
22g.45293231A>TCA411879217UPK3Ac.622A>T (p.Met208Leu)
c.259A>T (p.Met87Leu)
c.628A>T (p.Met210Leu)
c.265A>T (p.Met89Leu)
22g.45293232T>ACA411879221UPK3Ac.623T>A (p.Met208Lys)
c.260T>A (p.Met87Lys)
c.629T>A (p.Met210Lys)
c.266T>A (p.Met89Lys)
22g.45293232T>CCA411879224UPK3Ac.623T>C (p.Met208Thr)
c.260T>C (p.Met87Thr)
c.629T>C (p.Met210Thr)
c.266T>C (p.Met89Thr)
 dbSNP
22g.45293232T>GCA411879227UPK3Ac.623T>G (p.Met208Arg)
c.260T>G (p.Met87Arg)
c.629T>G (p.Met210Arg)
c.266T>G (p.Met89Arg)
22g.45293232T=CA2408185407UPK3Ac.623T= (p.Met208=)
c.260T= (p.Met87=)
c.629T= (p.Met210=)
c.266T= (p.Met89=)
22g.45293233G>ACA411879229UPK3Ac.624G>A (p.Met208Ile)
c.261G>A (p.Met87Ile)
c.630G>A (p.Met210Ile)
c.267G>A (p.Met89Ile)
22g.45293233G>CCA411879231UPK3Ac.624G>C (p.Met208Ile)
c.261G>C (p.Met87Ile)
c.630G>C (p.Met210Ile)
c.267G>C (p.Met89Ile)
22g.45293233G>TCA411879233UPK3Ac.624G>T (p.Met208Ile)
c.261G>T (p.Met87Ile)
c.630G>T (p.Met210Ile)
c.267G>T (p.Met89Ile)
22g.45293233_45293252delCA1026219336UPK3Ac.624_643del (p.Met208IlefsTer27)
c.261_280del (p.Met87IlefsTer27)
c.630_649del (p.Met210IlefsTer27)
c.267_286del (p.Met89IlefsTer27)
 gnomAD v3 gnomAD v4

Number of alleles fetched