Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31524373delCA778436820DSG2n.522-75del
c.522-75del
c.691-75del (n.691-75del)
c.157-75del (n.157-75del)
 dbSNP gnomAD v3 gnomAD v4
18g.31524374C>ACA2641406189DSG2n.522-74C>A
c.522-74C>A
c.691-74C>A (n.691-74C>A)
c.157-74C>A (n.157-74C>A)
 gnomAD v4
18g.31524376G>ACA2641406190DSG2n.522-72G>A
c.522-72G>A
c.691-72G>A (n.691-72G>A)
c.157-72G>A (n.157-72G>A)
 gnomAD v4
18g.31524377delCA2576480502DSG2n.522-71del
c.522-71del
c.691-71del (n.691-71del)
c.157-71del (n.157-71del)
18g.31524377G>ACA2576480503DSG2n.522-71G>A
c.522-71G>A
c.691-71G>A (n.691-71G>A)
c.157-71G>A (n.157-71G>A)
18g.31524377G>TCA2641406191DSG2n.522-71G>T
c.522-71G>T
c.691-71G>T (n.691-71G>T)
c.157-71G>T (n.157-71G>T)
 gnomAD v4
18g.31524378A>TCA2641406192DSG2n.522-70A>T
c.522-70A>T
c.691-70A>T (n.691-70A>T)
c.157-70A>T (n.157-70A>T)
 gnomAD v4
18g.31524379C>ACA2641406193DSG2n.522-69C>A
c.522-69C>A
c.691-69C>A (n.691-69C>A)
c.157-69C>A (n.157-69C>A)
 gnomAD v4
18g.31524380T>CCA2641406194DSG2n.522-68T>C
c.522-68T>C
c.691-68T>C (n.691-68T>C)
c.157-68T>C (n.157-68T>C)
 gnomAD v4
18g.31524384delCA2641406195DSG2n.522-64del
c.522-64del
c.691-64del (n.691-64del)
c.157-64del (n.157-64del)
 gnomAD v4
18g.31524384A=CA2293856907DSG2n.522-64A=
c.522-64A=
c.691-64A= (n.691-64A=)
c.157-64A= (n.157-64A=)
18g.31524384A>GCA778436822DSG2n.522-64A>G
c.522-64A>G
c.691-64A>G (n.691-64A>G)
c.157-64A>G (n.157-64A>G)
 dbSNP gnomAD v3 gnomAD v4
18g.31524385C>TCA2641406196DSG2n.522-63C>T
c.522-63C>T
c.691-63C>T (n.691-63C>T)
c.157-63C>T (n.157-63C>T)
 gnomAD v4
18g.31524386C=CA2293856908DSG2n.522-62C=
c.522-62C=
c.691-62C= (n.691-62C=)
c.157-62C= (n.157-62C=)
18g.31524386C>GCA297731764DSG2n.522-62C>G
c.522-62C>G
c.691-62C>G (n.691-62C>G)
c.157-62C>G (n.157-62C>G)
 dbSNP gnomAD v4
18g.31524386C>TCA778436824DSG2n.522-62C>T
c.522-62C>T
c.691-62C>T (n.691-62C>T)
c.157-62C>T (n.157-62C>T)
 dbSNP gnomAD v4
18g.31524389A>GCA2641406197DSG2n.522-59A>G
c.522-59A>G
c.691-59A>G (n.691-59A>G)
c.157-59A>G (n.157-59A>G)
 gnomAD v4
18g.31524391A>CCA2812000561DSG2n.522-57A>C
c.522-57A>C
c.691-57A>C (n.691-57A>C)
c.157-57A>C (n.157-57A>C)
18g.31524392G>ACA2641406198DSG2n.522-56G>A
c.522-56G>A
c.691-56G>A (n.691-56G>A)
c.157-56G>A (n.157-56G>A)
 gnomAD v4
18g.31524396G>CCA2558490386DSG2n.522-52G>C
c.522-52G>C
c.691-52G>C (n.691-52G>C)
c.157-52G>C (n.157-52G>C)
 gnomAD v4
18g.31524398T>CCA629148128DSG2n.522-50T>C
c.522-50T>C
c.691-50T>C (n.691-50T>C)
c.157-50T>C (n.157-50T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.31524398T=CA2293856909DSG2n.522-50T=
c.522-50T=
c.691-50T= (n.691-50T=)
c.157-50T= (n.157-50T=)
18g.31524399G>ACA049755DSG2n.522-49G>A
c.522-49G>A
c.691-49G>A (n.691-49G>A)
c.157-49G>A (n.157-49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524399G=CA2293856911DSG2n.522-49G=
c.522-49G=
c.691-49G= (n.691-49G=)
c.157-49G= (n.157-49G=)
18g.31524402A>GCA2576480504DSG2n.522-46A>G
c.522-46A>G
c.691-46A>G (n.691-46A>G)
c.157-46A>G (n.157-46A>G)
18g.31524403G>ACA2641406199DSG2n.522-45G>A
c.522-45G>A
c.691-45G>A (n.691-45G>A)
c.157-45G>A (n.157-45G>A)
 gnomAD v4
18g.31524403G>CCA778436826DSG2n.522-45G>C
c.522-45G>C
c.691-45G>C (n.691-45G>C)
c.157-45G>C (n.157-45G>C)
 dbSNP gnomAD v3 gnomAD v4
18g.31524403G=CA2293856912DSG2n.522-45G=
c.522-45G=
c.691-45G= (n.691-45G=)
c.157-45G= (n.157-45G=)
18g.31524403G>TCA2641406200DSG2n.522-45G>T
c.522-45G>T
c.691-45G>T (n.691-45G>T)
c.157-45G>T (n.157-45G>T)
 gnomAD v4
18g.31524404A=CA2293856913DSG2n.522-44A=
c.522-44A=
c.691-44A= (n.691-44A=)
c.157-44A= (n.157-44A=)
18g.31524404A>GCA297731770DSG2n.522-44A>G
c.522-44A>G
c.691-44A>G (n.691-44A>G)
c.157-44A>G (n.157-44A>G)
 dbSNP gnomAD v3 gnomAD v4
18g.31524404A>TCA2641406201DSG2n.522-44A>T
c.522-44A>T
c.691-44A>T (n.691-44A>T)
c.157-44A>T (n.157-44A>T)
 gnomAD v4
18g.31524405G>ACA2641406202DSG2n.522-43G>A
c.522-43G>A
c.691-43G>A (n.691-43G>A)
c.157-43G>A (n.157-43G>A)
 gnomAD v4
18g.31524406T>ACA049741DSG2n.522-42T>A
c.522-42T>A
c.691-42T>A (n.691-42T>A)
c.157-42T>A (n.157-42T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524406T>CCA049747DSG2n.522-42T>C
c.522-42T>C
c.691-42T>C (n.691-42T>C)
c.157-42T>C (n.157-42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524406T=CA2293856915DSG2n.522-42T=
c.522-42T=
c.691-42T= (n.691-42T=)
c.157-42T= (n.157-42T=)
18g.31524407G>TCA2576480505DSG2n.522-41G>T
c.522-41G>T
c.691-41G>T (n.691-41G>T)
c.157-41G>T (n.157-41G>T)
 gnomAD v4
18g.31524408_31524410delinsACTCA2293856916DSG2n.522-40_522-38delinsACT
c.522-40_522-38delinsACT
c.691-40_691-38delinsACT (n.691-40_691-38delinsACT)
c.157-40_157-38delinsACT (n.157-40_157-38delinsACT)
18g.31524411_31524412delCA2293856917DSG2n.522-37_522-36del
c.522-37_522-36del
c.691-37_691-36del (n.691-37_691-36del)
c.157-37_157-36del (n.157-37_157-36del)
 dbSNP gnomAD v4
18g.31524411_31524413delinsCTTCA2293856918DSG2n.522-37_522-35delinsCTT
c.522-37_522-35delinsCTT
c.691-37_691-35delinsCTT (n.691-37_691-35delinsCTT)
c.157-37_157-35delinsCTT (n.157-37_157-35delinsCTT)
18g.31524414_31524415delCA049730DSG2n.522-34_522-33del
c.522-34_522-33del
c.691-34_691-33del (n.691-34_691-33del)
c.157-34_157-33del (n.157-34_157-33del)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524413T>ACA2576480506DSG2n.522-35T>A
c.522-35T>A
c.691-35T>A (n.691-35T>A)
c.157-35T>A (n.157-35T>A)
18g.31524416C=CA2293856920DSG2n.522-32C=
c.522-32C=
c.691-32C= (n.691-32C=)
c.157-32C= (n.157-32C=)
18g.31524416C>GCA2641406203DSG2n.522-32C>G
c.522-32C>G
c.691-32C>G (n.691-32C>G)
c.157-32C>G (n.157-32C>G)
 gnomAD v4
18g.31524416C>TCA049720DSG2n.522-32C>T
c.522-32C>T
c.691-32C>T (n.691-32C>T)
c.157-32C>T (n.157-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524418C=CA2293856923DSG2n.522-30C=
c.522-30C=
c.691-30C= (n.691-30C=)
c.157-30C= (n.157-30C=)
18g.31524418C>GCA2293856922DSG2n.522-30C>G
c.522-30C>G
c.691-30C>G (n.691-30C>G)
c.157-30C>G (n.157-30C>G)
 dbSNP
18g.31524418C>TCA049715DSG2n.522-30C>T
c.522-30C>T
c.691-30C>T (n.691-30C>T)
c.157-30C>T (n.157-30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524420C>TCA2641406204DSG2n.522-28C>T
c.522-28C>T
c.691-28C>T (n.691-28C>T)
c.157-28C>T (n.157-28C>T)
 gnomAD v4
18g.31524422G>CCA2293856925DSG2n.522-26G>C
c.522-26G>C
c.691-26G>C (n.691-26G>C)
c.157-26G>C (n.157-26G>C)
 dbSNP
18g.31524422G=CA2293856924DSG2n.522-26G=
c.522-26G=
c.691-26G= (n.691-26G=)
c.157-26G= (n.157-26G=)
18g.31524423C>ACA049709DSG2n.522-25C>A
c.522-25C>A
c.691-25C>A (n.691-25C>A)
c.157-25C>A (n.157-25C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524423C=CA2293856926DSG2n.522-25C=
c.522-25C=
c.691-25C= (n.691-25C=)
c.157-25C= (n.157-25C=)
18g.31524426G>ACA988920866DSG2n.522-22G>A
c.522-22G>A
c.691-22G>A (n.691-22G>A)
c.157-22G>A (n.157-22G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.31524426G=CA2293856928DSG2n.522-22G=
c.522-22G=
c.691-22G= (n.691-22G=)
c.157-22G= (n.157-22G=)
18g.31524429A=CA2293856929DSG2n.522-19A=
c.522-19A=
c.691-19A= (n.691-19A=)
c.157-19A= (n.157-19A=)
18g.31524429A>GCA629148129DSG2n.522-19A>G
c.522-19A>G
c.691-19A>G (n.691-19A>G)
c.157-19A>G (n.157-19A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31524430T>CCA2641406205DSG2n.522-18T>C
c.522-18T>C
c.691-18T>C (n.691-18T>C)
c.157-18T>C (n.157-18T>C)
 gnomAD v4
18g.31524432T>CCA297731817DSG2n.522-16T>C
c.522-16T>C
c.691-16T>C (n.691-16T>C)
c.157-16T>C (n.157-16T>C)
 dbSNP gnomAD v4
18g.31524432T=CA2293856930DSG2n.522-16T=
c.522-16T=
c.691-16T= (n.691-16T=)
c.157-16T= (n.157-16T=)
18g.31524433T>CCA629148130DSG2n.522-15T>C
c.522-15T>C
c.691-15T>C (n.691-15T>C)
c.157-15T>C (n.157-15T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524433T=CA2293856932DSG2n.522-15T=
c.522-15T=
c.691-15T= (n.691-15T=)
c.157-15T= (n.157-15T=)
18g.31524434T>ACA2641406206DSG2n.522-14T>A
c.522-14T>A
c.691-14T>A (n.691-14T>A)
c.157-14T>A (n.157-14T>A)
 gnomAD v4
18g.31524434T>GCA629148131DSG2n.522-14T>G
c.522-14T>G
c.691-14T>G (n.691-14T>G)
c.157-14T>G (n.157-14T>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31524434T=CA2293856934DSG2n.522-14T=
c.522-14T=
c.691-14T= (n.691-14T=)
c.157-14T= (n.157-14T=)
18g.31524435C=CA2293856936DSG2n.522-13C=
c.522-13C=
c.691-13C= (n.691-13C=)
c.157-13C= (n.157-13C=)
18g.31524435C>GCA2293856937DSG2n.522-13C>G
c.522-13C>G
c.691-13C>G (n.691-13C>G)
c.157-13C>G (n.157-13C>G)
 dbSNP gnomAD v4
18g.31524436A=CA2293856938DSG2n.522-12A=
c.522-12A=
c.691-12A= (n.691-12A=)
c.157-12A= (n.157-12A=)
18g.31524436A>GCA629148132DSG2n.522-12A>G
c.522-12A>G
c.691-12A>G (n.691-12A>G)
c.157-12A>G (n.157-12A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524437_31524442delinsTTGCTCCA2293856941DSG2n.522-11_522-6delinsTTGCTC
c.522-11_522-6delinsTTGCTC
c.691-11_691-6delinsTTGCTC (n.691-11_691-6delinsTTGCTC)
c.157-11_157-6delinsTTGCTC (n.157-11_157-6delinsTTGCTC)
18g.31524441_31524445delCA049698DSG2n.522-7_522-3del
c.522-7_522-3del
c.691-7_691-3del (n.691-7_691-3del)
c.157-7_157-3del (n.157-7_157-3del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524439G>ACA1139666003DSG2n.522-9G>A
c.522-9G>A
c.691-9G>A (n.691-9G>A)
c.157-9G>A (n.157-9G>A)
 ClinVar dbSNP gnomAD v4
18g.31524439G=CA2293856942DSG2n.522-9G=
c.522-9G=
c.691-9G= (n.691-9G=)
c.157-9G= (n.157-9G=)
18g.31524440C>GCA2812000568DSG2n.522-8C>G
c.522-8C>G
c.691-8C>G (n.691-8C>G)
c.157-8C>G (n.157-8C>G)
18g.31524440C>TCA2573155223DSG2n.522-8C>T
c.522-8C>T
c.691-8C>T (n.691-8C>T)
c.157-8C>T (n.157-8C>T)
 ClinVar dbSNP gnomAD v4
18g.31524441T>ACA2641406207DSG2n.522-7T>A
c.522-7T>A
c.691-7T>A (n.691-7T>A)
c.157-7T>A (n.157-7T>A)
 gnomAD v4
18g.31524443T>ACA297731820DSG2n.522-5T>A
c.522-5T>A
c.691-5T>A (n.691-5T>A)
c.157-5T>A (n.157-5T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524443T=CA2293856945DSG2n.522-5T=
c.522-5T=
c.691-5T= (n.691-5T=)
c.157-5T= (n.157-5T=)
18g.31524444G>CCA629148133DSG2n.522-4G>C
c.522-4G>C
c.691-4G>C (n.691-4G>C)
c.157-4G>C (n.157-4G>C)
 dbSNP gnomAD v2 gnomAD v4
18g.31524444G=CA2293856947DSG2n.522-4G=
c.522-4G=
c.691-4G= (n.691-4G=)
c.157-4G= (n.157-4G=)
18g.31524445C>TCA2641406208DSG2n.522-3C>T
c.522-3C>T
c.691-3C>T (n.691-3C>T)
c.157-3C>T (n.157-3C>T)
 gnomAD v4
18g.31524446A>CCA402134820DSG2n.522-2A>C
c.522-2A>C
c.691-2A>C (n.691-2A>C)
c.157-2A>C (n.157-2A>C)
18g.31524446A>GCA402134821DSG2n.522-2A>G
c.522-2A>G
c.691-2A>G (n.691-2A>G)
c.157-2A>G (n.157-2A>G)
 COSMIC
18g.31524446A>TCA402134822DSG2n.522-2A>T
c.522-2A>T
c.691-2A>T (n.691-2A>T)
c.157-2A>T (n.157-2A>T)
18g.31524447G>ACA402134823DSG2n.522-1G>A
c.522-1G>A
c.691-1G>A (n.691-1G>A)
c.157-1G>A (n.157-1G>A)
 ClinVar dbSNP
18g.31524447G>CCA402134824DSG2n.522-1G>C
c.522-1G>C
c.691-1G>C (n.691-1G>C)
c.157-1G>C (n.157-1G>C)
18g.31524447G=CA2293856949DSG2n.522-1G=
c.522-1G=
c.691-1G= (n.691-1G=)
c.157-1G= (n.157-1G=)
18g.31524447G>TCA402134825DSG2n.522-1G>T
c.522-1G>T
c.691-1G>T (n.691-1G>T)
c.157-1G>T (n.157-1G>T)
18g.31524448G>ACA402134826DSG2n.522G>A
c.522G>A
c.691G>A (p.Glu231Lys)
c.157G>A (p.Glu53Lys)
 COSMIC
18g.31524448G>CCA402134827DSG2n.522G>C
c.522G>C
c.691G>C (p.Glu231Gln)
c.157G>C (p.Glu53Gln)
18g.31524448G>TCA402134828DSG2n.522G>T
c.522G>T
c.691G>T (p.Glu231Ter)
c.157G>T (p.Glu53Ter)
 gnomAD v4
18g.31524449A>CCA402134829DSG2n.523A>C
c.523A>C
c.692A>C (p.Glu231Ala)
c.158A>C (p.Glu53Ala)
18g.31524449A>GCA402134830DSG2n.523A>G
c.523A>G
c.692A>G (p.Glu231Gly)
c.158A>G (p.Glu53Gly)
18g.31524449A>TCA402134831DSG2n.523A>T
c.523A>T
c.692A>T (p.Glu231Val)
c.158A>T (p.Glu53Val)
18g.31524450A=CA2293856951DSG2n.524A=
c.524A=
c.693A= (p.Glu231=)
c.159A= (p.Glu53=)
18g.31524450A>CCA402134832DSG2n.524A>C
c.524A>C
c.693A>C (p.Glu231Asp)
c.159A>C (p.Glu53Asp)
18g.31524450A>GCA049765DSG2n.524A>G
c.524A>G
c.693A>G (p.Glu231=)
c.159A>G (p.Glu53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524450A>TCA402134833DSG2n.524A>T
c.524A>T
c.693A>T (p.Glu231Asp)
c.159A>T (p.Glu53Asp)
18g.31524451C>ACA402134834DSG2n.525C>A
c.525C>A
c.694C>A (p.His232Asn)
c.160C>A (p.His54Asn)
18g.31524451C=CA2293856953DSG2n.525C=
c.525C=
c.694C= (p.His232=)
c.160C= (p.His54=)
18g.31524451C>GCA402134835DSG2n.525C>G
c.525C>G
c.694C>G (p.His232Asp)
c.160C>G (p.His54Asp)
18g.31524451C>TCA402134836DSG2n.525C>T
c.525C>T
c.694C>T (p.His232Tyr)
c.160C>T (p.His54Tyr)
 dbSNP gnomAD v4
18g.31524452A>CCA402134837DSG2n.526A>C
c.526A>C
c.695A>C (p.His232Pro)
c.161A>C (p.His54Pro)
18g.31524452A>GCA402134838DSG2n.526A>G
c.526A>G
c.695A>G (p.His232Arg)
c.161A>G (p.His54Arg)
18g.31524452A>TCA402134839DSG2n.526A>T
c.526A>T
c.695A>T (p.His232Leu)
c.161A>T (p.His54Leu)
18g.31524453C>ACA402134840DSG2n.527C>A
c.527C>A
c.696C>A (p.His232Gln)
c.162C>A (p.His54Gln)
18g.31524453C=CA2293856955DSG2n.527C=
c.527C=
c.696C= (p.His232=)
c.162C= (p.His54=)
18g.31524453C>GCA402134841DSG2n.527C>G
c.527C>G
c.696C>G (p.His232Gln)
c.162C>G (p.His54Gln)
18g.31524453C>TCA503598864DSG2n.527C>T
c.527C>T
c.696C>T (p.His232=)
c.162C>T (p.His54=)
 ClinVar dbSNP gnomAD v4
18g.31524454A=CA2293856957DSG2n.528A=
c.528A=
c.697A= (p.Ser233=)
c.163A= (p.Ser55=)
18g.31524454A>CCA402134842DSG2n.528A>C
c.528A>C
c.697A>C (p.Ser233Arg)
c.163A>C (p.Ser55Arg)
 ClinVar dbSNP
18g.31524454A>GCA402134843DSG2n.528A>G
c.528A>G
c.697A>G (p.Ser233Gly)
c.163A>G (p.Ser55Gly)
 ClinVar dbSNP
18g.31524454A>TCA402134844DSG2n.528A>T
c.528A>T
c.697A>T (p.Ser233Cys)
c.163A>T (p.Ser55Cys)
18g.31524455G>ACA402134847DSG2n.529G>A
c.529G>A
c.698G>A (p.Ser233Asn)
c.164G>A (p.Ser55Asn)
18g.31524455G>CCA402134846DSG2n.529G>C
c.529G>C
c.698G>C (p.Ser233Thr)
c.164G>C (p.Ser55Thr)
18g.31524455G>TCA402134845DSG2n.529G>T
c.529G>T
c.698G>T (p.Ser233Ile)
c.164G>T (p.Ser55Ile)
18g.31524455_31524459delinsGCAGCCA2293856959DSG2n.529_533delinsGCAGC
c.529_533delinsGCAGC
c.698_702delinsGCAGC (p.Ser233=)
c.164_168delinsGCAGC (p.Ser55=)
18g.31524455_31524456insTATATTTTATTTACA2517729988DSG2n.529_530insTATATTTTATTTA
c.529_530insTATATTTTATTTA
c.698_699insTATATTTTATTTA (p.Ser234IlefsTer?)
c.164_165insTATATTTTATTTA (p.Ser56IlefsTer?)
18g.31524456C>ACA402134848DSG2n.530C>A
c.530C>A
c.699C>A (p.Ser233Arg)
c.165C>A (p.Ser55Arg)
18g.31524456C>GCA402134849DSG2n.530C>G
c.530C>G
c.699C>G (p.Ser233Arg)
c.165C>G (p.Ser55Arg)
18g.31524456C>TCA503598876DSG2n.530C>T
c.530C>T
c.699C>T (p.Ser233=)
c.165C>T (p.Ser55=)
18g.31524456_31524459delCA2293856960DSG2n.530_533del
c.530_533del
c.699_702del (p.Ser234ThrfsTer3)
c.165_168del (p.Ser56ThrfsTer3)
 dbSNP
18g.31524457A>CCA402134850DSG2n.531A>C
c.531A>C
c.700A>C (p.Ser234Arg)
c.166A>C (p.Ser56Arg)
18g.31524457A>GCA402134851DSG2n.531A>G
c.531A>G
c.700A>G (p.Ser234Gly)
c.166A>G (p.Ser56Gly)
 gnomAD v4
18g.31524457A>TCA402134852DSG2n.531A>T
c.531A>T
c.700A>T (p.Ser234Cys)
c.166A>T (p.Ser56Cys)
18g.31524457_31524458insAATCTCA2515467348DSG2n.531_532insAATCT
c.531_532insAATCT
c.700_701insAATCT (p.Ser234LysfsTer6)
c.166_167insAATCT (p.Ser56LysfsTer6)
18g.31524458G>ACA402134853DSG2n.532G>A
c.532G>A
c.701G>A (p.Ser234Asn)
c.167G>A (p.Ser56Asn)
18g.31524458G>CCA402134854DSG2n.532G>C
c.532G>C
c.701G>C (p.Ser234Thr)
c.167G>C (p.Ser56Thr)
18g.31524458G>TCA402134855DSG2n.532G>T
c.532G>T
c.701G>T (p.Ser234Ile)
c.167G>T (p.Ser56Ile)
18g.31524459C>ACA402134856DSG2n.533C>A
c.533C>A
c.702C>A (p.Ser234Arg)
c.168C>A (p.Ser56Arg)
18g.31524459C>GCA402134857DSG2n.533C>G
c.533C>G
c.702C>G (p.Ser234Arg)
c.168C>G (p.Ser56Arg)
18g.31524459C>TCA503598880DSG2n.533C>T
c.533C>T
c.702C>T (p.Ser234=)
c.168C>T (p.Ser56=)
18g.31524460T>ACA402134858DSG2n.534T>A
c.534T>A
c.703T>A (p.Tyr235Asn)
c.169T>A (p.Tyr57Asn)
18g.31524460T>CCA402134859DSG2n.534T>C
c.534T>C
c.703T>C (p.Tyr235His)
c.169T>C (p.Tyr57His)
18g.31524460T>GCA402134860DSG2n.534T>G
c.534T>G
c.703T>G (p.Tyr235Asp)
c.169T>G (p.Tyr57Asp)
18g.31524461A=CA2293856961DSG2n.535A=
c.535A=
c.704A= (p.Tyr235=)
c.170A= (p.Tyr57=)
18g.31524461A>CCA402134864DSG2n.535A>C
c.535A>C
c.704A>C (p.Tyr235Ser)
c.170A>C (p.Tyr57Ser)
18g.31524461A>GCA022233DSG2n.535A>G
c.535A>G
c.704A>G (p.Tyr235Cys)
c.170A>G (p.Tyr57Cys)
 ClinVar dbSNP gnomAD v4
18g.31524461A>TCA402134862DSG2n.535A>T
c.535A>T
c.704A>T (p.Tyr235Phe)
c.170A>T (p.Tyr57Phe)
18g.31524463_31524464delCA2812000571DSG2n.537_538del
c.537_538del
c.706_707del (p.Thr236PhefsTer?)
c.172_173del (p.Thr58PhefsTer?)
18g.31524462C>ACA402134868DSG2n.536C>A
c.536C>A
c.705C>A (p.Tyr235Ter)
c.171C>A (p.Tyr57Ter)
 gnomAD v4
18g.31524462C=CA2293856963DSG2n.536C=
c.536C=
c.705C= (p.Tyr235=)
c.171C= (p.Tyr57=)
18g.31524462C>GCA402134866DSG2n.536C>G
c.536C>G
c.705C>G (p.Tyr235Ter)
c.171C>G (p.Tyr57Ter)
18g.31524462C>TCA503598889DSG2n.536C>T
c.536C>T
c.705C>T (p.Tyr235=)
c.171C>T (p.Tyr57=)
 dbSNP
18g.31524463A=CA2293856965DSG2n.537A=
c.537A=
c.706A= (p.Thr236=)
c.172A= (p.Thr58=)
18g.31524463A>CCA402134875DSG2n.537A>C
c.537A>C
c.706A>C (p.Thr236Pro)
c.172A>C (p.Thr58Pro)
 dbSNP gnomAD v4
18g.31524463A>GCA022239DSG2n.537A>G
c.537A>G
c.706A>G (p.Thr236Ala)
c.172A>G (p.Thr58Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524463A>TCA402134874DSG2n.537A>T
c.537A>T
c.706A>T (p.Thr236Ser)
c.172A>T (p.Thr58Ser)
18g.31524464C>ACA402134877DSG2n.538C>A
c.538C>A
c.707C>A (p.Thr236Asn)
c.173C>A (p.Thr58Asn)
18g.31524464C=CA2293856967DSG2n.538C=
c.538C=
c.707C= (p.Thr236=)
c.173C= (p.Thr58=)
18g.31524464C>GCA402134878DSG2n.538C>G
c.538C>G
c.707C>G (p.Thr236Ser)
c.173C>G (p.Thr58Ser)
18g.31524464C>TCA402134881DSG2n.538C>T
c.538C>T
c.707C>T (p.Thr236Ile)
c.173C>T (p.Thr58Ile)
 dbSNP
18g.31524465T>ACA503598893DSG2n.539T>A
c.539T>A
c.708T>A (p.Thr236=)
c.174T>A (p.Thr58=)
18g.31524465T>CCA503598895DSG2n.539T>C
c.539T>C
c.708T>C (p.Thr236=)
c.174T>C (p.Thr58=)
18g.31524465T>GCA503598897DSG2n.539T>G
c.539T>G
c.708T>G (p.Thr236=)
c.174T>G (p.Thr58=)
18g.31524466_31524467dupCA2641406209DSG2n.540_541dup
c.540_541dup
c.709_710dup (p.Leu237PhefsTer2)
c.175_176dup (p.Leu59PhefsTer2)
 gnomAD v4
18g.31524466T>ACA402134882DSG2n.540T>A
c.540T>A
c.709T>A (p.Leu237Met)
c.175T>A (p.Leu59Met)
18g.31524466T>CCA503598899DSG2n.540T>C
c.540T>C
c.709T>C (p.Leu237=)
c.175T>C (p.Leu59=)
18g.31524466T>GCA402134884DSG2n.540T>G
c.540T>G
c.709T>G (p.Leu237Val)
c.175T>G (p.Leu59Val)
18g.31524467T>ACA402134885DSG2n.541T>A
c.541T>A
c.710T>A (p.Leu237Ter)
c.176T>A (p.Leu59Ter)
18g.31524467T>CCA402134886DSG2n.541T>C
c.541T>C
c.710T>C (p.Leu237Ser)
c.176T>C (p.Leu59Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524467T>GCA402134887DSG2n.541T>G
c.541T>G
c.710T>G (p.Leu237Trp)
c.176T>G (p.Leu59Trp)
18g.31524467T=CA2293856969DSG2n.541T=
c.541T=
c.710T= (p.Leu237=)
c.176T= (p.Leu59=)
18g.31524468G>ACA503598905DSG2n.542G>A
c.542G>A
c.711G>A (p.Leu237=)
c.177G>A (p.Leu59=)
 gnomAD v4
18g.31524468G>CCA402134889DSG2n.542G>C
c.542G>C
c.711G>C (p.Leu237Phe)
c.177G>C (p.Leu59Phe)
18g.31524468G>TCA402134890DSG2n.542G>T
c.542G>T
c.711G>T (p.Leu237Phe)
c.177G>T (p.Leu59Phe)
18g.31524469A>CCA402134895DSG2n.543A>C
c.543A>C
c.712A>C (p.Thr238Pro)
c.178A>C (p.Thr60Pro)
18g.31524469A>GCA402134891DSG2n.543A>G
c.543A>G
c.712A>G (p.Thr238Ala)
c.178A>G (p.Thr60Ala)
18g.31524469A>TCA402134893DSG2n.543A>T
c.543A>T
c.712A>T (p.Thr238Ser)
c.178A>T (p.Thr60Ser)
18g.31524470C>ACA402134896DSG2n.544C>A
c.544C>A
c.713C>A (p.Thr238Lys)
c.179C>A (p.Thr60Lys)
18g.31524470C=CA2293856971DSG2n.544C=
c.544C=
c.713C= (p.Thr238=)
c.179C= (p.Thr60=)
18g.31524470C>GCA402134897DSG2n.544C>G
c.544C>G
c.713C>G (p.Thr238Arg)
c.179C>G (p.Thr60Arg)
18g.31524470C>TCA049798DSG2n.544C>T
c.544C>T
c.713C>T (p.Thr238Ile)
c.179C>T (p.Thr60Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524471A>CCA503598913DSG2n.545A>C
c.545A>C
c.714A>C (p.Thr238=)
c.180A>C (p.Thr60=)
18g.31524471A>GCA503598914DSG2n.545A>G
c.545A>G
c.714A>G (p.Thr238=)
c.180A>G (p.Thr60=)
18g.31524471A>TCA503598916DSG2n.545A>T
c.545A>T
c.714A>T (p.Thr238=)
c.180A>T (p.Thr60=)
18g.31524473_31524475delCA2508011680DSG2n.547_549del
c.547_549del
c.716_718del (p.Val239del)
c.182_184del (p.Val61del)
18g.31524472G>ACA402134900DSG2n.546G>A
c.546G>A
c.715G>A (p.Val239Ile)
c.181G>A (p.Val61Ile)
 dbSNP
18g.31524472G>CCA402134902DSG2n.546G>C
c.546G>C
c.715G>C (p.Val239Leu)
c.181G>C (p.Val61Leu)
18g.31524472G=CA2293856973DSG2n.546G=
c.546G=
c.715G= (p.Val239=)
c.181G= (p.Val61=)
18g.31524472G>TCA402134903DSG2n.546G>T
c.546G>T
c.715G>T (p.Val239Leu)
c.181G>T (p.Val61Leu)
18g.31524473T>ACA402134905DSG2n.547T>A
c.547T>A
c.716T>A (p.Val239Glu)
c.182T>A (p.Val61Glu)
18g.31524473T>CCA022244DSG2n.547T>C
c.547T>C
c.716T>C (p.Val239Ala)
c.182T>C (p.Val61Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524473T>GCA402134908DSG2n.547T>G
c.547T>G
c.716T>G (p.Val239Gly)
c.182T>G (p.Val61Gly)
18g.31524473T=CA2293856976DSG2n.547T=
c.547T=
c.716T= (p.Val239=)
c.182T= (p.Val61=)

Number of alleles fetched