Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47447984T>ACA380334276RAPSNc.359A>T (p.Gln120Leu)
11g.47447984T>CCA380334278RAPSNc.359A>G (p.Gln120Arg)
dbSNP gnomAD v2 gnomAD v4
11g.47447984T>GCA380334280RAPSNc.359A>C (p.Gln120Pro)
gnomAD v4
11g.47447984T=CA1969378445RAPSNc.359A= (p.Gln120=)
11g.47447985G>ACA380334282RAPSNc.358C>T (p.Gln120Ter)
ClinVar dbSNP
11g.47447985G>CCA380334285RAPSNc.358C>G (p.Gln120Glu)
11g.47447985G=CA1969378447RAPSNc.358C= (p.Gln120=)
11g.47447985G>TCA380334287RAPSNc.358C>A (p.Gln120Lys)
11g.47447987delCA2580084292RAPSNc.358del (p.Gln120SerfsTer8)
ClinVar
11g.47447986G>ACA474430651RAPSNc.357C>T (p.Ala119=)
ClinVar dbSNP
11g.47447986G>CCA474430649RAPSNc.357C>G (p.Ala119=)
11g.47447986G=CA1969378451RAPSNc.357C= (p.Ala119=)
11g.47447986G>TCA474430650RAPSNc.357C>A (p.Ala119=)
dbSNP
11g.47447987G>ACA380334294RAPSNc.356C>T (p.Ala119Val)
11g.47447987G>CCA380334291RAPSNc.356C>G (p.Ala119Gly)
11g.47447987G>TCA380334289RAPSNc.356C>A (p.Ala119Asp)
11g.47447988C>ACA380334305RAPSNc.355G>T (p.Ala119Ser)
11g.47447988C>GCA380334301RAPSNc.355G>C (p.Ala119Pro)
11g.47447988C>TCA380334302RAPSNc.355G>A (p.Ala119Thr)
11g.47447989A>CCA474430652RAPSNc.354T>G (p.Gly118=)
ClinVar
11g.47447989A>GCA474430653RAPSNc.354T>C (p.Gly118=)
11g.47447989A>TCA474430654RAPSNc.354T>A (p.Gly118=)
11g.47447990C>ACA380334307RAPSNc.353G>T (p.Gly118Val)
gnomAD v4
11g.47447990C=CA1969378454RAPSNc.353G= (p.Gly118=)
11g.47447990C>GCA380334308RAPSNc.353G>C (p.Gly118Ala)
11g.47447990C>TCA380334309RAPSNc.353G>A (p.Gly118Asp)
dbSNP gnomAD v2
11g.47447991C>ACA380334310RAPSNc.352G>T (p.Gly118Cys)
11g.47447991C>GCA380334312RAPSNc.352G>C (p.Gly118Arg)
11g.47447991C>TCA380334313RAPSNc.352G>A (p.Gly118Ser)
gnomAD v4
11g.47447992T>ACA474430656RAPSNc.351A>T (p.Ala117=)
11g.47447992T>CCA474430655RAPSNc.351A>G (p.Ala117=)
gnomAD v4
11g.47447992T>GCA474430657RAPSNc.351A>C (p.Ala117=)
11g.47447993G>ACA221722155RAPSNc.350C>T (p.Ala117Val)
dbSNP COSMIC
11g.47447993G>CCA380334316RAPSNc.350C>G (p.Ala117Gly)
gnomAD v4
11g.47447993G=CA1969378457RAPSNc.350C= (p.Ala117=)
11g.47447993G>TCA380334317RAPSNc.350C>A (p.Ala117Glu)
gnomAD v4
11g.47447994C>ACA380334319RAPSNc.349G>T (p.Ala117Ser)
11g.47447994C>GCA380334321RAPSNc.349G>C (p.Ala117Pro)
11g.47447994C>TCA380334323RAPSNc.349G>A (p.Ala117Thr)
11g.47447996delCA2574817223RAPSNc.349del (p.Ala117GlnfsTer11)
11g.47447995C>ACA380334326RAPSNc.348G>T (p.Arg116Ser)
dbSNP
11g.47447995C=CA1969378459RAPSNc.348G= (p.Arg116=)
11g.47447995C>GCA380334324RAPSNc.348G>C (p.Arg116Ser)
11g.47447995C>TCA474430658RAPSNc.348G>A (p.Arg116=)
dbSNP
11g.47447996C>ACA380334328RAPSNc.347G>T (p.Arg116Met)
11g.47447996C>GCA380334329RAPSNc.347G>C (p.Arg116Thr)
11g.47447996C>TCA380334331RAPSNc.347G>A (p.Arg116Lys)
11g.47447996_47447997delinsCTCA1969378461RAPSNc.346_347delinsAG (p.Arg116=)
11g.47447997delCA599374662RAPSNc.346del (p.Arg116GlyfsTer12)
dbSNP gnomAD v2 gnomAD v4
11g.47447997T>ACA380334332RAPSNc.346A>T (p.Arg116Trp)
11g.47447997T>CCA380334334RAPSNc.346A>G (p.Arg116Gly)
11g.47447997T>GCA474430659RAPSNc.346A>C (p.Arg116=)
11g.47447998G>ACA474430660RAPSNc.345C>T (p.Thr115=)
ClinVar
11g.47447998G>CCA474430661RAPSNc.345C>G (p.Thr115=)
11g.47447998G=CA1969378463RAPSNc.345C= (p.Thr115=)
11g.47447998G>TCA474430662RAPSNc.345C>A (p.Thr115=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47447999G>ACA380334342RAPSNc.344C>T (p.Thr115Ile)
11g.47447999G>CCA380334337RAPSNc.344C>G (p.Thr115Ser)
11g.47447999G>TCA380334336RAPSNc.344C>A (p.Thr115Asn)
11g.47448000T>ACA380334344RAPSNc.343A>T (p.Thr115Ser)
11g.47448000T>CCA380334346RAPSNc.343A>G (p.Thr115Ala)
11g.47448000T>GCA380334347RAPSNc.343A>C (p.Thr115Pro)
11g.47448001A>CCA474430663RAPSNc.342T>G (p.Gly114=)
11g.47448001A>GCA474430664RAPSNc.342T>C (p.Gly114=)
11g.47448001A>TCA474430665RAPSNc.342T>A (p.Gly114=)
11g.47448002C>ACA380334349RAPSNc.341G>T (p.Gly114Val)
gnomAD v4
11g.47448002C>GCA380334351RAPSNc.341G>C (p.Gly114Ala)
11g.47448002C>TCA380334352RAPSNc.341G>A (p.Gly114Asp)
11g.47448003C>ACA380334356RAPSNc.340G>T (p.Gly114Cys)
11g.47448003C>GCA380334353RAPSNc.340G>C (p.Gly114Arg)
11g.47448003C>TCA380334355RAPSNc.340G>A (p.Gly114Ser)
11g.47448004A>CCA474430668RAPSNc.339T>G (p.Pro113=)
11g.47448004A>GCA474430667RAPSNc.339T>C (p.Pro113=)
ClinVar
11g.47448004A>TCA474430666RAPSNc.339T>A (p.Pro113=)
11g.47448005G>ACA380334357RAPSNc.338C>T (p.Pro113Leu)
11g.47448005G>CCA380334358RAPSNc.338C>G (p.Pro113Arg)
11g.47448005G>TCA380334359RAPSNc.338C>A (p.Pro113His)
11g.47448006G>ACA380334360RAPSNc.337C>T (p.Pro113Ser)
gnomAD v4
11g.47448006G>CCA380334362RAPSNc.337C>G (p.Pro113Ala)
11g.47448006G>TCA380334364RAPSNc.337C>A (p.Pro113Thr)
11g.47448007C>ACA5976759RAPSNc.336G>T (p.Leu112=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448007C=CA1969378465RAPSNc.336G= (p.Leu112=)
11g.47448007C>GCA474430670RAPSNc.336G>C (p.Leu112=)
11g.47448007C>TCA474430669RAPSNc.336G>A (p.Leu112=)
ClinVar
11g.47448007_47448008insCTCCGAGTCA2613407954RAPSNc.335_336insACTCGGAG (p.Pro113LeufsTer18)
gnomAD v4
11g.47448008A>CCA380334371RAPSNc.335T>G (p.Leu112Arg)
11g.47448008A>GCA380334368RAPSNc.335T>C (p.Leu112Pro)
11g.47448008A>TCA380334370RAPSNc.335T>A (p.Leu112Gln)
11g.47448009G>ACA474430671RAPSNc.334C>T (p.Leu112=)
dbSNP gnomAD v3 gnomAD v4
11g.47448009G>CCA380334374RAPSNc.334C>G (p.Leu112Val)
11g.47448009G=CA1969378468RAPSNc.334C= (p.Leu112=)
11g.47448009G>TCA380334378RAPSNc.334C>A (p.Leu112Met)
11g.47448010C>ACA474430672RAPSNc.333G>T (p.Gly111=)
ClinVar dbSNP
11g.47448010C>GCA474430674RAPSNc.333G>C (p.Gly111=)
11g.47448010C>TCA474430673RAPSNc.333G>A (p.Gly111=)
gnomAD v4
11g.47448010_47448011insTGGGATTACA2613407995RAPSNc.332_333insTAATCCCA (p.Leu112AsnfsTer19)
gnomAD v4
11g.47448011C>ACA380334380RAPSNc.332G>T (p.Gly111Val)
11g.47448011C>GCA380334382RAPSNc.332G>C (p.Gly111Ala)
11g.47448011C>TCA380334385RAPSNc.332G>A (p.Gly111Glu)
gnomAD v4
11g.47448012C>ACA380334387RAPSNc.331G>T (p.Gly111Trp)
11g.47448012C=CA1969378470RAPSNc.331G= (p.Gly111=)
11g.47448012C>GCA380334393RAPSNc.331G>C (p.Gly111Arg)
11g.47448012C>TCA221722157RAPSNc.331G>A (p.Gly111Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47448012_47448013delCA2613407997RAPSNc.330_331del (p.Gly111AlafsTer?)
gnomAD v4
11g.47448013A>CCA474430675RAPSNc.330T>G (p.Leu110=)
11g.47448013A>GCA474430676RAPSNc.330T>C (p.Leu110=)
11g.47448013A>TCA474430677RAPSNc.330T>A (p.Leu110=)
11g.47448014A>CCA380334396RAPSNc.329T>G (p.Leu110Arg)
11g.47448014A>GCA380334397RAPSNc.329T>C (p.Leu110Pro)
11g.47448014A>TCA380334400RAPSNc.329T>A (p.Leu110His)
11g.47448015G>ACA380334403RAPSNc.328C>T (p.Leu110Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47448015G>CCA380334405RAPSNc.328C>G (p.Leu110Val)
11g.47448015G=CA1969378472RAPSNc.328C= (p.Leu110=)
11g.47448015G>TCA380334410RAPSNc.328C>A (p.Leu110Ile)
11g.47448016G>ACA474430678RAPSNc.327C>T (p.Cys109=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47448016G>CCA380334415RAPSNc.327C>G (p.Cys109Trp)
11g.47448016G=CA1969378474RAPSNc.327C= (p.Cys109=)
11g.47448016G>TCA5976760RAPSNc.327C>A (p.Cys109Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47448017C>ACA380334423RAPSNc.326G>T (p.Cys109Phe)
gnomAD v4
11g.47448017C>GCA380334424RAPSNc.326G>C (p.Cys109Ser)
11g.47448017C>TCA380334426RAPSNc.326G>A (p.Cys109Tyr)
11g.47448018A=CA1969378477RAPSNc.325T= (p.Cys109=)
11g.47448018A>CCA380334428RAPSNc.325T>G (p.Cys109Gly)
ClinVar dbSNP
11g.47448018A>GCA380334433RAPSNc.325T>C (p.Cys109Arg)
dbSNP gnomAD v3 gnomAD v4
11g.47448018A>TCA380334431RAPSNc.325T>A (p.Cys109Ser)
dbSNP gnomAD v3 gnomAD v4
11g.47448019G>ACA474430679RAPSNc.324C>T (p.Thr108=)
11g.47448019G>CCA474430680RAPSNc.324C>G (p.Thr108=)
11g.47448019G>TCA474430681RAPSNc.324C>A (p.Thr108=)
11g.47448020G>ACA380334434RAPSNc.323C>T (p.Thr108Ile)
11g.47448020G>CCA380334438RAPSNc.323C>G (p.Thr108Ser)
dbSNP gnomAD v2 gnomAD v4
11g.47448020G=CA1969378479RAPSNc.323C= (p.Thr108=)
11g.47448020G>TCA380334436RAPSNc.323C>A (p.Thr108Asn)
gnomAD v4
11g.47448021T>ACA380334441RAPSNc.322A>T (p.Thr108Ser)
11g.47448021T>CCA380334443RAPSNc.322A>G (p.Thr108Ala)
11g.47448021T>GCA380334445RAPSNc.322A>C (p.Thr108Pro)
dbSNP
11g.47448021T=CA1969378482RAPSNc.322A= (p.Thr108=)
11g.47448022C>ACA380334447RAPSNc.321G>T (p.Lys107Asn)
11g.47448022C=CA1969378486RAPSNc.321G= (p.Lys107=)
11g.47448022C>GCA380334450RAPSNc.321G>C (p.Lys107Asn)
11g.47448022C>TCA5976761RAPSNc.321G>A (p.Lys107=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47448023T>ACA380334455RAPSNc.320A>T (p.Lys107Met)
11g.47448023T>CCA380334457RAPSNc.320A>G (p.Lys107Arg)
11g.47448023T>GCA380334459RAPSNc.320A>C (p.Lys107Thr)
11g.47448024T>ACA380334463RAPSNc.319A>T (p.Lys107Ter)
11g.47448024T>CCA380334465RAPSNc.319A>G (p.Lys107Glu)
11g.47448024T>GCA380334466RAPSNc.319A>C (p.Lys107Gln)
gnomAD v4
11g.47448026_47448045delCA2573053518RAPSNc.300_319del (p.His100GlnfsTer?)
ClinVar dbSNP gnomAD v4
11g.47448025G>ACA474430682RAPSNc.318C>T (p.Cys106=)
dbSNP gnomAD v3 gnomAD v4
11g.47448025G>CCA380334468RAPSNc.318C>G (p.Cys106Trp)
11g.47448025G=CA1969378489RAPSNc.318C= (p.Cys106=)
11g.47448025G>TCA380334470RAPSNc.318C>A (p.Cys106Ter)
ClinVar dbSNP gnomAD v4
11g.47448026C>ACA380334473RAPSNc.317G>T (p.Cys106Phe)
11g.47448026C=CA1969378491RAPSNc.317G= (p.Cys106=)
11g.47448026C>GCA380334476RAPSNc.317G>C (p.Cys106Ser)
11g.47448026C>TCA380334479RAPSNc.317G>A (p.Cys106Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47448027A=CA1969378495RAPSNc.316T= (p.Cys106=)
11g.47448027A>CCA380334481RAPSNc.316T>G (p.Cys106Gly)
11g.47448027A>GCA221722170RAPSNc.316T>C (p.Cys106Arg)
ClinVar dbSNP gnomAD v4
11g.47448027A>TCA380334486RAPSNc.316T>A (p.Cys106Ser)
11g.47448028G>ACA474430683RAPSNc.315C>T (p.Tyr105=)
11g.47448028G>CCA380334488RAPSNc.315C>G (p.Tyr105Ter)
11g.47448028G>TCA380334491RAPSNc.315C>A (p.Tyr105Ter)
11g.47448029T>ACA380334494RAPSNc.314A>T (p.Tyr105Phe)
11g.47448029T>CCA380334497RAPSNc.314A>G (p.Tyr105Cys)
ClinVar dbSNP
11g.47448029T>GCA380334499RAPSNc.314A>C (p.Tyr105Ser)
11g.47448029T=CA1969378498RAPSNc.314A= (p.Tyr105=)
11g.47448030A=CA1969378501RAPSNc.313T= (p.Tyr105=)
11g.47448030A>CCA380334503RAPSNc.313T>G (p.Tyr105Asp)
dbSNP gnomAD v2 gnomAD v4
11g.47448030A>GCA380334507RAPSNc.313T>C (p.Tyr105His)
11g.47448030A>TCA380334501RAPSNc.313T>A (p.Tyr105Asn)
11g.47448031G>ACA474430686RAPSNc.312C>T (p.Ser104=)
COSMIC
11g.47448031G>CCA474430685RAPSNc.312C>G (p.Ser104=)
11g.47448031G>TCA474430684RAPSNc.312C>A (p.Ser104=)
11g.47448032G>ACA5976762RAPSNc.311C>T (p.Ser104Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47448032G>CCA380334512RAPSNc.311C>G (p.Ser104Cys)
11g.47448032G=CA1969378504RAPSNc.311C= (p.Ser104=)
11g.47448032G>TCA380334514RAPSNc.311C>A (p.Ser104Tyr)
11g.47448033A=CA1969378506RAPSNc.310T= (p.Ser104=)
11g.47448033A>CCA5976763RAPSNc.310T>G (p.Ser104Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448033A>GCA380334517RAPSNc.310T>C (p.Ser104Pro)
11g.47448033A>TCA380334520RAPSNc.310T>A (p.Ser104Thr)
gnomAD v4
11g.47448034G>ACA474430687RAPSNc.309C>T (p.Ile103=)
11g.47448034G>CCA380334523RAPSNc.309C>G (p.Ile103Met)
11g.47448034G>TCA474430688RAPSNc.309C>A (p.Ile103=)
11g.47448035A>CCA380334526RAPSNc.308T>G (p.Ile103Ser)
11g.47448035A>GCA380334527RAPSNc.308T>C (p.Ile103Thr)
gnomAD v4
11g.47448035A>TCA380334532RAPSNc.308T>A (p.Ile103Asn)
11g.47448036T>ACA380334534RAPSNc.307A>T (p.Ile103Phe)
11g.47448036T>CCA380334537RAPSNc.307A>G (p.Ile103Val)
gnomAD v4
11g.47448036T>GCA380334543RAPSNc.307A>C (p.Ile103Leu)
11g.47448037G>ACA474430689RAPSNc.306C>T (p.Thr102=)
dbSNP
11g.47448037G>CCA474430691RAPSNc.306C>G (p.Thr102=)
11g.47448037G=CA1969378508RAPSNc.306C= (p.Thr102=)
11g.47448037G>TCA474430690RAPSNc.306C>A (p.Thr102=)
gnomAD v4
11g.47448038G>ACA380334551RAPSNc.305C>T (p.Thr102Ile)
11g.47448038G>CCA380334548RAPSNc.305C>G (p.Thr102Ser)
11g.47448038G>TCA380334547RAPSNc.305C>A (p.Thr102Asn)
11g.47448039T>ACA380334552RAPSNc.304A>T (p.Thr102Ser)
11g.47448039T>CCA380334553RAPSNc.304A>G (p.Thr102Ala)
gnomAD v4
11g.47448039T>GCA380334554RAPSNc.304A>C (p.Thr102Pro)
11g.47448040C>ACA380334556RAPSNc.303G>T (p.Lys101Asn)
11g.47448040C>GCA380334558RAPSNc.303G>C (p.Lys101Asn)
11g.47448040C>TCA474430692RAPSNc.303G>A (p.Lys101=)
11g.47448041T>ACA380334560RAPSNc.302A>T (p.Lys101Met)
11g.47448041T>CCA5976764RAPSNc.302A>G (p.Lys101Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448041T>GCA380334561RAPSNc.302A>C (p.Lys101Thr)
11g.47448041T=CA1969378510RAPSNc.302A= (p.Lys101=)
11g.47448042T>ACA380334562RAPSNc.301A>T (p.Lys101Ter)
11g.47448042T>CCA380334563RAPSNc.301A>G (p.Lys101Glu)
11g.47448042T>GCA380334564RAPSNc.301A>C (p.Lys101Gln)
11g.47448043G>ACA474430490RAPSNc.300C>T (p.His100=)
11g.47448043G>CCA380334568RAPSNc.300C>G (p.His100Gln)
11g.47448043G>TCA380334569RAPSNc.300C>A (p.His100Gln)
11g.47448044T>ACA380334572RAPSNc.299A>T (p.His100Leu)
11g.47448044T>CCA380334571RAPSNc.299A>G (p.His100Arg)
gnomAD v4
11g.47448044T>GCA380334570RAPSNc.299A>C (p.His100Pro)
gnomAD v4
11g.47448045G>ACA380334575RAPSNc.298C>T (p.His100Tyr)
gnomAD v4
11g.47448045G>CCA380334581RAPSNc.298C>G (p.His100Asp)
11g.47448045G>TCA380334578RAPSNc.298C>A (p.His100Asn)
11g.47448046A>CCA380334582RAPSNc.297T>G (p.Phe99Leu)
11g.47448046A>GCA474430491RAPSNc.297T>C (p.Phe99=)
11g.47448046A>TCA380334583RAPSNc.297T>A (p.Phe99Leu)
11g.47448048delCA2573147338RAPSNc.297del (p.His100ThrfsTer28)
ClinVar dbSNP
11g.47448047A>CCA380334584RAPSNc.296T>G (p.Phe99Cys)
11g.47448047A>GCA380334585RAPSNc.296T>C (p.Phe99Ser)
11g.47448047A>TCA380334586RAPSNc.296T>A (p.Phe99Tyr)
11g.47448048A=CA1969378514RAPSNc.295T= (p.Phe99=)
11g.47448048A>CCA380334587RAPSNc.295T>G (p.Phe99Val)
11g.47448048A>GCA221722193RAPSNc.295T>C (p.Phe99Leu)
dbSNP gnomAD v3 gnomAD v4
11g.47448048A>TCA380334589RAPSNc.295T>A (p.Phe99Ile)
11g.47448049C>ACA380334592RAPSNc.294G>T (p.Glu98Asp)
11g.47448049C=CA1969378517RAPSNc.294G= (p.Glu98=)
11g.47448049C>GCA380334600RAPSNc.294G>C (p.Glu98Asp)
11g.47448049C>TCA474430492RAPSNc.294G>A (p.Glu98=)
ClinVar dbSNP gnomAD v4
11g.47448050T>ACA380334601RAPSNc.293A>T (p.Glu98Val)
11g.47448050T>CCA380334602RAPSNc.293A>G (p.Glu98Gly)
11g.47448050T>GCA380334603RAPSNc.293A>C (p.Glu98Ala)
11g.47448051C>ACA380334608RAPSNc.292G>T (p.Glu98Ter)
11g.47448051C=CA1969378519RAPSNc.292G= (p.Glu98=)
11g.47448051C>GCA380334605RAPSNc.292G>C (p.Glu98Gln)
11g.47448051C>TCA5976765RAPSNc.292G>A (p.Glu98Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448052G>ACA474430493RAPSNc.291C>T (p.Cys97=)
gnomAD v4
11g.47448052G>CCA380334612RAPSNc.291C>G (p.Cys97Trp)
11g.47448052G=CA1969378521RAPSNc.291C= (p.Cys97=)
11g.47448052G>TCA221722215RAPSNc.291C>A (p.Cys97Ter)
ClinVar dbSNP gnomAD v4
11g.47448053C>ACA380334627RAPSNc.290G>T (p.Cys97Phe)
11g.47448053C>GCA380334630RAPSNc.290G>C (p.Cys97Ser)
11g.47448053C>TCA380334633RAPSNc.290G>A (p.Cys97Tyr)
ClinVar dbSNP
11g.47448054A>CCA380334639RAPSNc.289T>G (p.Cys97Gly)
11g.47448054A>GCA380334643RAPSNc.289T>C (p.Cys97Arg)
11g.47448054A>TCA380334646RAPSNc.289T>A (p.Cys97Ser)
11g.47448055delCA2695201133RAPSNc.288del (p.Cys97AlafsTer?)
ClinVar
11g.47448055C>ACA474430494RAPSNc.288G>T (p.Leu96=)
11g.47448055C=CA1969378524RAPSNc.288G= (p.Leu96=)
11g.47448055C>GCA474430495RAPSNc.288G>C (p.Leu96=)
11g.47448055C>TCA474430496RAPSNc.288G>A (p.Leu96=)
dbSNP gnomAD v3 gnomAD v4
11g.47448056A=CA1969378527RAPSNc.287T= (p.Leu96=)
11g.47448056A>CCA380334651RAPSNc.287T>G (p.Leu96Arg)
dbSNP
11g.47448056A>GCA380334653RAPSNc.287T>C (p.Leu96Pro)
dbSNP gnomAD v4
11g.47448056A>TCA380334656RAPSNc.287T>A (p.Leu96Gln)
11g.47448057G>ACA474430497RAPSNc.286C>T (p.Leu96=)
ClinVar
11g.47448057G>CCA380334677RAPSNc.286C>G (p.Leu96Val)
11g.47448057G>TCA380334679RAPSNc.286C>A (p.Leu96Met)
11g.47448058C>ACA380334688RAPSNc.285G>T (p.Lys95Asn)
11g.47448058C>GCA380334689RAPSNc.285G>C (p.Lys95Asn)
11g.47448058C>TCA474430498RAPSNc.285G>A (p.Lys95=)
gnomAD v4
11g.47448059T>ACA380334692RAPSNc.284A>T (p.Lys95Met)
11g.47448059T>CCA380334694RAPSNc.284A>G (p.Lys95Arg)
11g.47448059T>GCA380334697RAPSNc.284A>C (p.Lys95Thr)
11g.47448060T>ACA380334698RAPSNc.283A>T (p.Lys95Ter)
11g.47448060T>CCA380334700RAPSNc.283A>G (p.Lys95Glu)
11g.47448060T>GCA380334704RAPSNc.283A>C (p.Lys95Gln)
11g.47448061C>ACA380334707RAPSNc.282G>T (p.Glu94Asp)
11g.47448061C>GCA380334710RAPSNc.282G>C (p.Glu94Asp)
ClinVar
11g.47448061C>TCA474430499RAPSNc.282G>A (p.Glu94=)
ClinVar dbSNP gnomAD v4
11g.47448062T>ACA380334712RAPSNc.281A>T (p.Glu94Val)
11g.47448062T>CCA380334713RAPSNc.281A>G (p.Glu94Gly)
11g.47448062T>GCA380334715RAPSNc.281A>C (p.Glu94Ala)
11g.47448063delCA2740093718RAPSNc.280del (p.Glu94ArgfsTer?)
ClinVar
11g.47448063C>ACA380334733RAPSNc.280G>T (p.Glu94Ter)
11g.47448063C=CA1969378532RAPSNc.280G= (p.Glu94=)
11g.47448063C>GCA380334721RAPSNc.280G>C (p.Glu94Gln)
11g.47448063C>TCA5976766RAPSNc.280G>A (p.Glu94Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448063_47448066delinsCGTTCA1969378533RAPSNc.277_280delinsAACG (p.Asn93=)
11g.47448064G>ACA221722216RAPSNc.279C>T (p.Asn93=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47448064G>CCA380334736RAPSNc.279C>G (p.Asn93Lys)
dbSNP gnomAD v2 gnomAD v4
11g.47448064G=CA1969378541RAPSNc.279C= (p.Asn93=)
11g.47448064G>TCA380334737RAPSNc.279C>A (p.Asn93Lys)
11g.47448065_47448067delCA1969378543RAPSNc.277_279del (p.Asn93del)
dbSNP gnomAD v4
11g.47448065T>ACA380334738RAPSNc.278A>T (p.Asn93Ile)
11g.47448065T>CCA380334739RAPSNc.278A>G (p.Asn93Ser)
gnomAD v4
11g.47448065T>GCA380334740RAPSNc.278A>C (p.Asn93Thr)
11g.47448066T>ACA380334744RAPSNc.277A>T (p.Asn93Tyr)
11g.47448066T>CCA380334745RAPSNc.277A>G (p.Asn93Asp)
dbSNP
11g.47448066T>GCA380334748RAPSNc.277A>C (p.Asn93His)
11g.47448067G>ACA474430500RAPSNc.276C>T (p.Ser92=)
11g.47448067G>CCA380334760RAPSNc.276C>G (p.Ser92Arg)
11g.47448067G>TCA380334762RAPSNc.276C>A (p.Ser92Arg)
11g.47448068C>ACA380334766RAPSNc.275G>T (p.Ser92Ile)
11g.47448068C>GCA380334768RAPSNc.275G>C (p.Ser92Thr)
11g.47448068C>TCA380334769RAPSNc.275G>A (p.Ser92Asn)
11g.47448069T>ACA380334772RAPSNc.274A>T (p.Ser92Cys)
11g.47448069T>CCA380334771RAPSNc.274A>G (p.Ser92Gly)
dbSNP gnomAD v4
11g.47448069T>GCA380334770RAPSNc.274A>C (p.Ser92Arg)
11g.47448070G>ACA474430501RAPSNc.273C>T (p.Arg91=)
11g.47448070G>CCA474430502RAPSNc.273C>G (p.Arg91=)
ClinVar
11g.47448070G>TCA474430503RAPSNc.273C>A (p.Arg91=)
11g.47448071C>ACA5976768RAPSNc.272G>T (p.Arg91Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448071C=CA1969378546RAPSNc.272G= (p.Arg91=)
11g.47448071C>GCA380334774RAPSNc.272G>C (p.Arg91Pro)
ClinVar dbSNP gnomAD v4
11g.47448071C>TCA5976767RAPSNc.272G>A (p.Arg91His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448072G>ACA5976769RAPSNc.271C>T (p.Arg91Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448072G>CCA380334784RAPSNc.271C>G (p.Arg91Gly)
gnomAD v4
11g.47448072G=CA1969378552RAPSNc.271C= (p.Arg91=)
11g.47448072G>TCA380334789RAPSNc.271C>A (p.Arg91Ser)
11g.47448073T>ACA474430507RAPSNc.270A>T (p.Ala90=)
11g.47448073T>CCA474430506RAPSNc.270A>G (p.Ala90=)
11g.47448073T>GCA474430504RAPSNc.270A>C (p.Ala90=)
11g.47448074G>ACA380334793RAPSNc.269C>T (p.Ala90Val)
11g.47448074G>CCA380334796RAPSNc.269C>G (p.Ala90Gly)
11g.47448074G>TCA380334801RAPSNc.269C>A (p.Ala90Glu)
11g.47448075C>ACA380334807RAPSNc.268G>T (p.Ala90Ser)
11g.47448075C=CA1969378556RAPSNc.268G= (p.Ala90=)
11g.47448075C>GCA380334810RAPSNc.268G>C (p.Ala90Pro)
11g.47448075C>TCA5976770RAPSNc.268G>A (p.Ala90Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47448076C>ACA474430509RAPSNc.267G>T (p.Leu89=)
11g.47448076C>GCA474430510RAPSNc.267G>C (p.Leu89=)
11g.47448076C>TCA474430512RAPSNc.267G>A (p.Leu89=)
11g.47448077A>CCA380334818RAPSNc.266T>G (p.Leu89Arg)
11g.47448077A>GCA380334824RAPSNc.266T>C (p.Leu89Pro)
11g.47448077A>TCA380334827RAPSNc.266T>A (p.Leu89Gln)
11g.47448077_47448078delCA2613408144RAPSNc.265_266del (p.Leu89GlyfsTer?)
gnomAD v4
11g.47448078G>ACA474430513RAPSNc.265C>T (p.Leu89=)
ClinVar
11g.47448078G>CCA5976771RAPSNc.265C>G (p.Leu89Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47448078G=CA1969378560RAPSNc.265C= (p.Leu89=)
11g.47448078G>TCA380334832RAPSNc.265C>A (p.Leu89Met)
gnomAD v4
11g.47448079G>ACA474430514RAPSNc.264C>T (p.Asn88=)
11g.47448079G>CCA380334837RAPSNc.264C>G (p.Asn88Lys)
11g.47448079G=CA1969378565RAPSNc.264C= (p.Asn88=)
11g.47448079G>TCA199511RAPSNc.264C>A (p.Asn88Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.47448080T>ACA380334845RAPSNc.263A>T (p.Asn88Ile)
11g.47448080T>CCA380334850RAPSNc.263A>G (p.Asn88Ser)
dbSNP
11g.47448080T>GCA380334851RAPSNc.263A>C (p.Asn88Thr)
11g.47448080T=CA1969378570RAPSNc.263A= (p.Asn88=)
11g.47448081T>ACA380334854RAPSNc.262A>T (p.Asn88Tyr)
11g.47448081T>CCA380334855RAPSNc.262A>G (p.Asn88Asp)
11g.47448081T>GCA380334857RAPSNc.262A>C (p.Asn88His)
11g.47448082C>ACA474430520RAPSNc.261G>T (p.Leu87=)
11g.47448082C>GCA474430519RAPSNc.261G>C (p.Leu87=)
11g.47448082C>TCA474430518RAPSNc.261G>A (p.Leu87=)
11g.47448083A=CA1969378574RAPSNc.260T= (p.Leu87=)
11g.47448083A>CCA380334862RAPSNc.260T>G (p.Leu87Arg)
11g.47448083A>GCA380334869RAPSNc.260T>C (p.Leu87Pro)
dbSNP gnomAD v2 gnomAD v4
11g.47448083A>TCA380334872RAPSNc.260T>A (p.Leu87Gln)
11g.47448084G>ACA5976772RAPSNc.259C>T (p.Leu87=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47448084G>CCA380334874RAPSNc.259C>G (p.Leu87Val)
gnomAD v4
11g.47448084G=CA1969378576RAPSNc.259C= (p.Leu87=)
11g.47448084G>TCA380334875RAPSNc.259C>A (p.Leu87Met)

Number of alleles fetched