Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43077240_43077251delCA2608894334RETc.-19_-8del (n.-19_-8del)
gnomAD v4
10g.43077241C>ACA2608894336RETc.-18C>A (n.-18C>A)
gnomAD v4
10g.43077241C>TCA2608894337RETc.-18C>T (n.-18C>T)
dbSNP gnomAD v4
10g.43077244delCA2608894335RETc.-15del (n.-15del)
gnomAD v4
10g.43077242C>ACA2574531740RETc.-17C>A (n.-17C>A)
gnomAD v4
10g.43077242C>TCA2608894338RETc.-17C>T (n.-17C>T)
gnomAD v4
10g.43077243C>ACA2608894339RETc.-16C>A (n.-16C>A)
gnomAD v4
10g.43077243C=CA1905814133RETc.-16C= (n.-16C=)
10g.43077243C>GCA593178978RETc.-16C>G (n.-16C>G)
dbSNP gnomAD v2 gnomAD v4
10g.43077243C>TCA2608894340RETc.-16C>T (n.-16C>T)
dbSNP gnomAD v4
10g.43077244C>ACA2608894341RETc.-15C>A (n.-15C>A)
gnomAD v4
10g.43077244C>GCA2608894342RETc.-15C>G (n.-15C>G)
gnomAD v4
10g.43077244C>TCA2608894343RETc.-15C>T (n.-15C>T)
gnomAD v4
10g.43077245A>CCA2608894344RETc.-14A>C (n.-14A>C)
gnomAD v4
10g.43077245A>GCA2608894345RETc.-14A>G (n.-14A>G)
gnomAD v4
10g.43077246G>ACA2574531741RETc.-13G>A (n.-13G>A)
gnomAD v4
10g.43077246G>TCA2608894346RETc.-13G>T (n.-13G>T)
gnomAD v4
10g.43077247C>ACA2608894347RETc.-12C>A (n.-12C>A)
gnomAD v4
10g.43077247C>TCA2608894348RETc.-12C>T (n.-12C>T)
dbSNP gnomAD v4
10g.43077248G>ACA2608894349RETc.-11G>A (n.-11G>A)
gnomAD v4
10g.43077248G>TCA2608894350RETc.-11G>T (n.-11G>T)
gnomAD v4
10g.43077249C>ACA2608894351RETc.-10C>A (n.-10C>A)
gnomAD v4
10g.43077249C>TCA2574531742RETc.-10C>T (n.-10C>T)
10g.43077250G>ACA2608894352RETc.-9G>A (n.-9G>A)
dbSNP gnomAD v4
10g.43077250G>CCA2721807277RETc.-9G>C (n.-9G>C)
dbSNP
10g.43077250G>TCA2608894353RETc.-9G>T (n.-9G>T)
gnomAD v4
10g.43077251C>ACA2608894354RETc.-8C>A (n.-8C>A)
gnomAD v4
10g.43077251C=CA1905814135RETc.-8C= (n.-8C=)
10g.43077251C>GCA665362454RETc.-8C>G (n.-8C>G)
dbSNP gnomAD v3 gnomAD v4
10g.43077251C>TCA2608894355RETc.-8C>T (n.-8C>T)
gnomAD v4
10g.43077252A=CA1905814136RETc.-7A= (n.-7A=)
10g.43077252A>CCA665362461RETc.-7A>C (n.-7A>C)
dbSNP gnomAD v3 gnomAD v4
10g.43077252A>GCA593178980RETc.-7A>G (n.-7A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077252A>TCA2608894356RETc.-7A>T (n.-7A>T)
gnomAD v4
10g.43077252_43077255delCA2580081454RETc.-7_-4del (n.-7_-4del)
ClinVar gnomAD v4
10g.43077253C>ACA2608894357RETc.-6C>A (n.-6C>A)
gnomAD v4
10g.43077253C=CA1905814137RETc.-6C= (n.-6C=)
10g.43077253C>GCA665362473RETc.-6C>G (n.-6C>G)
dbSNP
10g.43077253C>TCA2573053270RETc.-6C>T (n.-6C>T)
ClinVar dbSNP gnomAD v4
10g.43077254G>ACA593178982RETc.-5G>A (n.-5G>A)
dbSNP gnomAD v2 gnomAD v4
10g.43077254G>CCA2580081455RETc.-5G>C (n.-5G>C)
ClinVar gnomAD v4
10g.43077254G=CA1905814138RETc.-5G= (n.-5G=)
10g.43077254G>TCA2608894358RETc.-5G>T (n.-5G>T)
gnomAD v4
10g.43077255G>ACA593178985RETc.-4G>A (n.-4G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077255G>CCA2608894359RETc.-4G>C (n.-4G>C)
gnomAD v4
10g.43077255G=CA1905814140RETc.-4G= (n.-4G=)
10g.43077255G>TCA593178984RETc.-4G>T (n.-4G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077260_43077265dupCA2580081456RETc.2_7dup (p.Ala2_Lys3insMetAla)
ClinVar
10g.43077256G>ACA206710331RETc.-3G>A (n.-3G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077256G=CA1905814141RETc.-3G= (n.-3G=)
10g.43077256G>TCA2608894360RETc.-3G>T (n.-3G>T)
gnomAD v4
10g.43077257C>ACA10576788RETc.-2C>A (n.-2C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077257C=CA1905814143RETc.-2C= (n.-2C=)
10g.43077257C>TCA2608894361RETc.-2C>T (n.-2C>T)
dbSNP gnomAD v4
10g.43077258G>ACA2580081457RETc.-1G>A (n.-1G>A)
ClinVar dbSNP gnomAD v4
10g.43077258G>CCA2608894363RETc.-1G>C (n.-1G>C)
gnomAD v4
10g.43077258G>TCA2608894362RETc.-1G>T (n.-1G>T)
gnomAD v4
10g.43077259A=CA1905814146RETc.1A= (p.Met1=)
10g.43077259A>CCA376767990RETc.1A>C (p.Met1Leu)
10g.43077259A>GCA376767991RETc.1A>G (p.Met1Val)
gnomAD v4
10g.43077259A>TCA008533RETc.1A>T (p.Met1Leu)
dbSNP
10g.43077260T>ACA376767992RETc.2T>A (p.Met1Lys)
10g.43077260T>CCA376767993RETc.2T>C (p.Met1Thr)
gnomAD v4
10g.43077260T>GCA376767994RETc.2T>G (p.Met1Arg)
dbSNP
10g.43077260T=CA1905814147RETc.2T= (p.Met1=)
10g.43077261G>ACA376767997RETc.3G>A (p.Met1Ile)
dbSNP
10g.43077261G>CCA376767995RETc.3G>C (p.Met1Ile)
10g.43077261G>TCA376767996RETc.3G>T (p.Met1Ile)
gnomAD v4
10g.43077263_43077286dupCA1905814148RETc.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)
ClinVar dbSNP gnomAD v4
10g.43077262G>ACA376767998RETc.4G>A (p.Ala2Thr)
gnomAD v4
10g.43077262G>CCA376767999RETc.4G>C (p.Ala2Pro)
10g.43077262G>TCA376768000RETc.4G>T (p.Ala2Ser)
gnomAD v4
10g.43077263C>ACA376768001RETc.5C>A (p.Ala2Glu)
ClinVar dbSNP gnomAD v4
10g.43077263C=CA1905814150RETc.5C= (p.Ala2=)
10g.43077263C>GCA376768002RETc.5C>G (p.Ala2Gly)
dbSNP
10g.43077263C>TCA376768003RETc.5C>T (p.Ala2Val)
dbSNP gnomAD v4
10g.43077264G>ACA469274801RETc.6G>A (p.Ala2=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077264G>CCA469274799RETc.6G>C (p.Ala2=)
dbSNP
10g.43077264G=CA1905814151RETc.6G= (p.Ala2=)
10g.43077264G>TCA469274800RETc.6G>T (p.Ala2=)
ClinVar gnomAD v4
10g.43077265A=CA1905814153RETc.7A= (p.Lys3=)
10g.43077265A>CCA376768004RETc.7A>C (p.Lys3Gln)
10g.43077265A>GCA376768005RETc.7A>G (p.Lys3Glu)
ClinVar dbSNP gnomAD v4
10g.43077265A>TCA376768006RETc.7A>T (p.Lys3Ter)
10g.43077266delCA2608894364RETc.8del (p.Lys3ArgfsTer20)
gnomAD v4
10g.43077266A>CCA376768007RETc.8A>C (p.Lys3Thr)
gnomAD v4
10g.43077266A>GCA376768008RETc.8A>G (p.Lys3Arg)
gnomAD v4
10g.43077266A>TCA376768009RETc.8A>T (p.Lys3Met)
gnomAD v4
10g.43077267G>ACA469274802RETc.9G>A (p.Lys3=)
10g.43077267G>CCA376768011RETc.9G>C (p.Lys3Asn)
10g.43077267G>TCA376768010RETc.9G>T (p.Lys3Asn)
gnomAD v4
10g.43077268G>ACA376768012RETc.10G>A (p.Ala4Thr)
ClinVar dbSNP gnomAD v4
10g.43077268G>CCA376768013RETc.10G>C (p.Ala4Pro)
10g.43077268G=CA1905814155RETc.10G= (p.Ala4=)
10g.43077268G>TCA376768014RETc.10G>T (p.Ala4Ser)
gnomAD v4
10g.43077269C>ACA376768015RETc.11C>A (p.Ala4Glu)
dbSNP gnomAD v4
10g.43077269C=CA1905814157RETc.11C= (p.Ala4=)
10g.43077269C>GCA376768016RETc.11C>G (p.Ala4Gly)
10g.43077269C>TCA376768017RETc.11C>T (p.Ala4Val)
ClinVar dbSNP gnomAD v4
10g.43077270G>ACA469274803RETc.12G>A (p.Ala4=)
dbSNP gnomAD v4
10g.43077270G>CCA469274804RETc.12G>C (p.Ala4=)
10g.43077270G>TCA469274805RETc.12G>T (p.Ala4=)
gnomAD v4
10g.43077271A>CCA376768020RETc.13A>C (p.Thr5Pro)
dbSNP
10g.43077271A>GCA376768019RETc.13A>G (p.Thr5Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43077271A>TCA376768018RETc.13A>T (p.Thr5Ser)
gnomAD v4
10g.43077272C>ACA376768021RETc.14C>A (p.Thr5Lys)
dbSNP gnomAD v4
10g.43077272C=CA1905814160RETc.14C= (p.Thr5=)
10g.43077272C>GCA376768022RETc.14C>G (p.Thr5Arg)
ClinVar dbSNP
10g.43077272C>TCA376768023RETc.14C>T (p.Thr5Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077273G>ACA469274806RETc.15G>A (p.Thr5=)
ClinVar dbSNP gnomAD v4
10g.43077273G>CCA469274808RETc.15G>C (p.Thr5=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077273G=CA1905814162RETc.15G= (p.Thr5=)
10g.43077273G>TCA469274807RETc.15G>T (p.Thr5=)
ClinVar gnomAD v4
10g.43077274T>ACA376768024RETc.16T>A (p.Ser6Thr)
dbSNP
10g.43077274T>CCA376768025RETc.16T>C (p.Ser6Pro)
ClinVar dbSNP gnomAD v4
10g.43077274T>GCA376768026RETc.16T>G (p.Ser6Ala)
ClinVar dbSNP
10g.43077274T=CA1905814165RETc.16T= (p.Ser6=)
10g.43077275C>ACA376768027RETc.17C>A (p.Ser6Tyr)
gnomAD v4
10g.43077275C>GCA376768029RETc.17C>G (p.Ser6Cys)
10g.43077275C>TCA376768028RETc.17C>T (p.Ser6Phe)
gnomAD v4
10g.43077276C>ACA469274811RETc.18C>A (p.Ser6=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077276C=CA1905814168RETc.18C= (p.Ser6=)
10g.43077276C>GCA469274809RETc.18C>G (p.Ser6=)
ClinVar dbSNP gnomAD v4
10g.43077276C>TCA469274810RETc.18C>T (p.Ser6=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077277G>ACA376768030RETc.19G>A (p.Gly7Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077277G>CCA376768031RETc.19G>C (p.Gly7Arg)
ClinVar gnomAD v4
10g.43077277G=CA1905814171RETc.19G= (p.Gly7=)
10g.43077277G>TCA376768032RETc.19G>T (p.Gly7Cys)
gnomAD v4
10g.43077278_43077297delCA2608894372RETc.20_39del (p.Gly7AlafsTer?)
gnomAD v4
10g.43077278G>ACA376768033RETc.20G>A (p.Gly7Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077278G>CCA376768034RETc.20G>C (p.Gly7Ala)
10g.43077278G=CA1905814173RETc.20G= (p.Gly7=)
10g.43077278G>TCA376768035RETc.20G>T (p.Gly7Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077279T>ACA469274812RETc.21T>A (p.Gly7=)
10g.43077279T>CCA469274813RETc.21T>C (p.Gly7=)
ClinVar gnomAD v4
10g.43077279T>GCA469274814RETc.21T>G (p.Gly7=)
dbSNP
10g.43077280G>ACA376768036RETc.22G>A (p.Ala8Thr)
dbSNP gnomAD v2 gnomAD v4
10g.43077280G>CCA376768037RETc.22G>C (p.Ala8Pro)
10g.43077280G=CA1905814175RETc.22G= (p.Ala8=)
10g.43077280G>TCA376768038RETc.22G>T (p.Ala8Ser)
ClinVar dbSNP gnomAD v4
10g.43077281C>ACA376768039RETc.23C>A (p.Ala8Asp)
gnomAD v4
10g.43077281C=CA1905814176RETc.23C= (p.Ala8=)
10g.43077281C>GCA376768040RETc.23C>G (p.Ala8Gly)
10g.43077281C>TCA376768041RETc.23C>T (p.Ala8Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077282C>ACA469274826RETc.24C>A (p.Ala8=)
gnomAD v4
10g.43077282C>GCA469274828RETc.24C>G (p.Ala8=)
dbSNP
10g.43077282C>TCA469274830RETc.24C>T (p.Ala8=)
ClinVar gnomAD v4 COSMIC COSMIC
10g.43077283delCA2787755798RETc.25del (p.Ala9ArgfsTer14)
10g.43077283G>ACA376768042RETc.25G>A (p.Ala9Thr)
dbSNP gnomAD v4
10g.43077283G>CCA376768044RETc.25G>C (p.Ala9Pro)
gnomAD v4
10g.43077283G>TCA376768043RETc.25G>T (p.Ala9Ser)
ClinVar gnomAD v4
10g.43077284C>ACA376768045RETc.26C>A (p.Ala9Glu)
gnomAD v4
10g.43077284C>GCA376768046RETc.26C>G (p.Ala9Gly)
dbSNP gnomAD v4
10g.43077284C>TCA376768047RETc.26C>T (p.Ala9Val)
gnomAD v4
10g.43077285G>ACA469274847RETc.27G>A (p.Ala9=)
ClinVar dbSNP gnomAD v4
10g.43077285G>CCA469274853RETc.27G>C (p.Ala9=)
ClinVar
10g.43077285G=CA1905814178RETc.27G= (p.Ala9=)
10g.43077285G>TCA469274849RETc.27G>T (p.Ala9=)
gnomAD v4
10g.43077288delCA2608894383RETc.30del (p.Leu11CysfsTer12)
gnomAD v4
10g.43077286G>ACA376768048RETc.28G>A (p.Gly10Arg)
ClinVar gnomAD v4
10g.43077286G>CCA376768049RETc.28G>C (p.Gly10Arg)
dbSNP gnomAD v4
10g.43077286G>TCA376768050RETc.28G>T (p.Gly10Trp)
gnomAD v4
10g.43077287G>ACA376768053RETc.29G>A (p.Gly10Glu)
ClinVar dbSNP gnomAD v4
10g.43077287G>CCA376768051RETc.29G>C (p.Gly10Ala)
ClinVar dbSNP gnomAD v4
10g.43077287G=CA1905814182RETc.29G= (p.Gly10=)
10g.43077287G>TCA376768052RETc.29G>T (p.Gly10Val)
ClinVar dbSNP gnomAD v4
10g.43077288G>ACA206710332RETc.30G>A (p.Gly10=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077288G>CCA469274874RETc.30G>C (p.Gly10=)
gnomAD v4
10g.43077288G=CA1905814186RETc.30G= (p.Gly10=)
10g.43077288G>TCA469274876RETc.30G>T (p.Gly10=)
ClinVar dbSNP gnomAD v4
10g.43077293_43077307dupCA2608894397RETc.35_49dup (p.Leu16_Leu17insArgLeuLeuLeuLeu)
gnomAD v4
10g.43077293_43077310dupCA927685011RETc.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43077293_43077313dupCA665362567RETc.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu)
ClinVar dbSNP gnomAD v4
10g.43077288_43077289insGTCGGTGCTCAGAACCA927685021RETc.30_31insGTCGGTGCTCAGAAC (p.Gly10_Leu11insValGlyAlaGlnAsn)
gnomAD v3 gnomAD v4
10g.43077289C>ACA206710333RETc.31C>A (p.Leu11Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077289C=CA1905814189RETc.31C= (p.Leu11=)
10g.43077289C>GCA009216RETc.31C>G (p.Leu11Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077289C>TCA469274883RETc.31C>T (p.Leu11=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077290T>ACA376768054RETc.32T>A (p.Leu11Gln)
10g.43077290T>CCA376768055RETc.32T>C (p.Leu11Pro)
gnomAD v4
10g.43077290T>GCA376768056RETc.32T>G (p.Leu11Arg)
dbSNP gnomAD v4
10g.43077291G>ACA469274896RETc.33G>A (p.Leu11=)
dbSNP gnomAD v2 gnomAD v4
10g.43077291G>CCA469274898RETc.33G>C (p.Leu11=)
10g.43077291G=CA1905814191RETc.33G= (p.Leu11=)
10g.43077291G>TCA469274900RETc.33G>T (p.Leu11=)
gnomAD v4
10g.43077292C>ACA376768057RETc.34C>A (p.Arg12Ser)
gnomAD v4
10g.43077292C>GCA376768059RETc.34C>G (p.Arg12Gly)
ClinVar dbSNP gnomAD v4
10g.43077292C>TCA376768058RETc.34C>T (p.Arg12Cys)
ClinVar dbSNP gnomAD v4
10g.43077293G>ACA376768060RETc.35G>A (p.Arg12His)
ClinVar dbSNP gnomAD v4
10g.43077293G>CCA376768061RETc.35G>C (p.Arg12Pro)
gnomAD v4
10g.43077293G>TCA376768062RETc.35G>T (p.Arg12Leu)
gnomAD v4
10g.43077294T>ACA469274915RETc.36T>A (p.Arg12=)
10g.43077294T>CCA469274918RETc.36T>C (p.Arg12=)
10g.43077294T>GCA469274921RETc.36T>G (p.Arg12=)
10g.43077294_43077303delinsTCTGCTGTTGCA1905814192RETc.36_45delinsTCTGCTGTTG (p.Arg12=)
10g.43077295delCA2695211965RETc.37del (p.Leu13CysfsTer10)
10g.43077295C>ACA376768063RETc.37C>A (p.Leu13Met)
gnomAD v4
10g.43077295C=CA1905814194RETc.37C= (p.Leu13=)
10g.43077295C>GCA376768064RETc.37C>G (p.Leu13Val)
gnomAD v4
10g.43077295C>TCA469274928RETc.37C>T (p.Leu13=)
gnomAD v4
10g.43077301_43077309dupCA593178996RETc.43_51dup (p.Leu17_Leu18insLeuLeuLeu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077301_43077309delCA891842881RETc.43_51del (p.Leu15_Leu17del)
ClinVar dbSNP
10g.43077296T>ACA376768065RETc.38T>A (p.Leu13Gln)
gnomAD v4
10g.43077296T>CCA376768066RETc.38T>C (p.Leu13Pro)
gnomAD v4
10g.43077296T>GCA376768067RETc.38T>G (p.Leu13Arg)
10g.43077298_43077299insGGTTGCCA665362619RETc.40_41insGGTTGC (p.Leu13_Leu14insArgLeu)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43077301_43077306dupCA2740092977RETc.43_48dup (p.Leu16_Leu17insLeuLeu)
ClinVar
10g.43077297G>ACA469274939RETc.39G>A (p.Leu13=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077297G>CCA469274942RETc.39G>C (p.Leu13=)
ClinVar
10g.43077297G=CA1905814196RETc.39G= (p.Leu13=)
10g.43077297G>TCA469274941RETc.39G>T (p.Leu13=)
gnomAD v4
10g.43077298C>ACA376768068RETc.40C>A (p.Leu14Met)
dbSNP gnomAD v4
10g.43077298C=CA1905814198RETc.40C= (p.Leu14=)
10g.43077298C>GCA376768069RETc.40C>G (p.Leu14Val)
10g.43077298C>TCA469274949RETc.40C>T (p.Leu14=)
dbSNP gnomAD v2 gnomAD v4
10g.43077299T>ACA376768072RETc.41T>A (p.Leu14Gln)
gnomAD v4
10g.43077299T>CCA376768071RETc.41T>C (p.Leu14Pro)
ClinVar dbSNP gnomAD v4
10g.43077299T>GCA376768070RETc.41T>G (p.Leu14Arg)
10g.43077299_43077301delinsGGTTGCTGCCA2580081458RETc.41_43delinsGGTTGCTGC (p.Leu13_Leu14insArgLeu)
ClinVar
10g.43077301_43077303dupCA593178998RETc.43_45dup (p.Leu15_Leu16insLeu)
dbSNP gnomAD v2 gnomAD v4
10g.43077301_43077303delCA2608894441RETc.43_45del (p.Leu15del)
gnomAD v4
10g.43077300G>ACA469274965RETc.42G>A (p.Leu14=)
gnomAD v4
10g.43077300G>CCA469274960RETc.42G>C (p.Leu14=)
dbSNP gnomAD v4
10g.43077300G>TCA469274963RETc.42G>T (p.Leu14=)
gnomAD v4
10g.43077301T>ACA376768073RETc.43T>A (p.Leu15Met)
10g.43077301T>CCA469274969RETc.43T>C (p.Leu15=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43077301T>GCA376768074RETc.43T>G (p.Leu15Val)
10g.43077301T=CA1905814201RETc.43T= (p.Leu15=)
10g.43077301_43077307delinsTTGCTGCCA1905814200RETc.43_49delinsTTGCTGC (p.Leu15=)
10g.43077301_43077302insGGCCA2573145117RETc.43_44insGGC (p.Leu14_Leu15insTrp)
ClinVar dbSNP gnomAD v4
10g.43077302T>ACA376768075RETc.44T>A (p.Leu15Ter)
10g.43077302T>CCA376768076RETc.44T>C (p.Leu15Ser)
ClinVar dbSNP gnomAD v4
10g.43077302T>GCA376768077RETc.44T>G (p.Leu15Trp)
10g.43077314_43077316dupCA593179000RETc.56_58dup (p.Leu19_Pro20insLeu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077311_43077316dupCA1905814206RETc.53_58dup (p.Leu19_Pro20insLeuLeu)
ClinVar dbSNP gnomAD v4
10g.43077308_43077316dupCA338489RETc.50_58dup (p.Leu19_Pro20insLeuLeuLeu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43077305_43077316dupCA2608894452RETc.47_58dup (p.Leu19_Pro20insLeuLeuLeuLeu)
gnomAD v4
10g.43077314_43077316delCA043719RETc.56_58del (p.Leu19del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43077311_43077316delCA916081576RETc.53_58del (p.Leu18_Leu19del)
ClinVar dbSNP gnomAD v4
10g.43077308_43077316delCA2580615452RETc.50_58del (p.Leu17_Leu19del)
ClinVar
10g.43077303G>ACA10578856RETc.45G>A (p.Leu15=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077303G>CCA376768078RETc.45G>C (p.Leu15Phe)
10g.43077303G=CA1905814210RETc.45G= (p.Leu15=)
10g.43077303G>TCA376768079RETc.45G>T (p.Leu15Phe)
dbSNP gnomAD v4
10g.43077303dupCA2580081462RETc.45dup (p.Leu16AlafsTer?)
ClinVar
10g.43077304C>ACA376768080RETc.46C>A (p.Leu16Met)
gnomAD v4
10g.43077304C=CA1905814212RETc.46C= (p.Leu16=)
10g.43077304C>GCA376768081RETc.46C>G (p.Leu16Val)
ClinVar dbSNP
10g.43077304C>TCA469274997RETc.46C>T (p.Leu16=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077305T>ACA376768082RETc.47T>A (p.Leu16Gln)
ClinVar dbSNP gnomAD v4
10g.43077305T>CCA376768083RETc.47T>C (p.Leu16Pro)
gnomAD v4
10g.43077305T>GCA376768084RETc.47T>G (p.Leu16Arg)
10g.43077305T=CA1905814215RETc.47T= (p.Leu16=)
10g.43077306G>ACA469275006RETc.48G>A (p.Leu16=)
ClinVar gnomAD v4
10g.43077306G>CCA469275008RETc.48G>C (p.Leu16=)
dbSNP
10g.43077306G=CA1905814216RETc.48G= (p.Leu16=)
10g.43077306G>TCA469275011RETc.48G>T (p.Leu16=)
gnomAD v4
10g.43077312_43077323delCA2608894463RETc.54_65del (p.Leu19_Leu22del)
gnomAD v4
10g.43077307delCA2608894468RETc.49del (p.Leu17CysfsTer6)
gnomAD v4
10g.43077307C>ACA376768085RETc.49C>A (p.Leu17Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077307C=CA1905814219RETc.49C= (p.Leu17=)
10g.43077307C>GCA376768086RETc.49C>G (p.Leu17Val)
10g.43077307C>TCA469275018RETc.49C>T (p.Leu17=)
ClinVar dbSNP gnomAD v4
10g.43077308T>ACA376768087RETc.50T>A (p.Leu17Gln)
gnomAD v4
10g.43077308T>CCA376768088RETc.50T>C (p.Leu17Pro)
ClinVar dbSNP gnomAD v4
10g.43077308T>GCA376768089RETc.50T>G (p.Leu17Arg)
10g.43077308T=CA1905814221RETc.50T= (p.Leu17=)
10g.43077309G>ACA469275034RETc.51G>A (p.Leu17=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077309G>CCA469275035RETc.51G>C (p.Leu17=)
ClinVar dbSNP
10g.43077309G=CA1905814222RETc.51G= (p.Leu17=)
10g.43077309G>TCA469275041RETc.51G>T (p.Leu17=)
gnomAD v4
10g.43077309_43077310delCA2608894477RETc.51_52del (p.Leu18AlafsTer?)
c.51_52del (p.Leu18AlafsTer28)
gnomAD v4
10g.43077315_43077323dupCA10582718RETc.57_65dup (p.Leu22_Gly23insProLeuLeu)
ClinVar dbSNP gnomAD v4
10g.43077310C>ACA376768091RETc.52C>A (p.Leu18Met)
gnomAD v4
10g.43077310C>GCA376768090RETc.52C>G (p.Leu18Val)
gnomAD v4
10g.43077310C>TCA469275048RETc.52C>T (p.Leu18=)
ClinVar dbSNP gnomAD v4
10g.43077311T>ACA376768092RETc.53T>A (p.Leu18Gln)
10g.43077311T>CCA376768093RETc.53T>C (p.Leu18Pro)
ClinVar dbSNP gnomAD v4
10g.43077311T>GCA376768094RETc.53T>G (p.Leu18Arg)
gnomAD v4
10g.43077312G>ACA469275055RETc.54G>A (p.Leu18=)
ClinVar dbSNP gnomAD v4
10g.43077312G>CCA469275060RETc.54G>C (p.Leu18=)
dbSNP gnomAD v2
10g.43077312G=CA1905814224RETc.54G= (p.Leu18=)
10g.43077312G>TCA469275057RETc.54G>T (p.Leu18=)
gnomAD v4
10g.43077317_43077322delCA2608894489RETc.59_64del (p.Pro20_Leu21del)
gnomAD v4
10g.43077313C>ACA376768095RETc.55C>A (p.Leu19Met)
ClinVar gnomAD v4
10g.43077313C>GCA376768096RETc.55C>G (p.Leu19Val)
10g.43077313C>TCA469275066RETc.55C>T (p.Leu19=)
dbSNP gnomAD v4
10g.43077314T>ACA376768097RETc.56T>A (p.Leu19Gln)
10g.43077314T>CCA376768098RETc.56T>C (p.Leu19Pro)
ClinVar dbSNP gnomAD v4
10g.43077314T>GCA376768099RETc.56T>G (p.Leu19Arg)
10g.43077314T=CA1905814225RETc.56T= (p.Leu19=)
10g.43077315G>ACA469275081RETc.57G>A (p.Leu19=)
gnomAD v4
10g.43077315G>CCA469275076RETc.57G>C (p.Leu19=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077315G=CA1905814229RETc.57G= (p.Leu19=)
10g.43077315G>TCA469275078RETc.57G>T (p.Leu19=)
dbSNP gnomAD v4
10g.43077317_43077319dupCA16618957RETc.59_61dup (p.Pro20_Leu21insPro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077316C>ACA376768102RETc.58C>A (p.Pro20Thr)
dbSNP gnomAD v4
10g.43077316C=CA1905814231RETc.58C= (p.Pro20=)
10g.43077316C>GCA376768101RETc.58C>G (p.Pro20Ala)
10g.43077316C>TCA376768100RETc.58C>T (p.Pro20Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.43077317C>ACA376768103RETc.59C>A (p.Pro20Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43077317C=CA1905814233RETc.59C= (p.Pro20=)
10g.43077317C>GCA376768104RETc.59C>G (p.Pro20Arg)
ClinVar dbSNP gnomAD v4
10g.43077317C>TCA376768105RETc.59C>T (p.Pro20Leu)
ClinVar dbSNP gnomAD v4
10g.43077317_43077323delinsCGCTGCTCA1905814235RETc.59_65delinsCGCTGCT (p.Pro20=)
10g.43077318G>ACA469275097RETc.60G>A (p.Pro20=)
ClinVar dbSNP gnomAD v4
10g.43077318G>CCA469275099RETc.60G>C (p.Pro20=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077318G=CA1905814238RETc.60G= (p.Pro20=)
10g.43077318G>TCA469275101RETc.60G>T (p.Pro20=)
gnomAD v4
10g.43077318_43077323delCA1139661420RETc.60_65del (p.Leu21_Leu22del)
ClinVar dbSNP
10g.43077319C>ACA376768106RETc.61C>A (p.Leu21Met)
10g.43077319C>GCA376768107RETc.61C>G (p.Leu21Val)
dbSNP
10g.43077319C>TCA469275107RETc.61C>T (p.Leu21=)
ClinVar dbSNP
10g.43077320T>ACA376768108RETc.62T>A (p.Leu21Gln)
10g.43077320T>CCA376768109RETc.62T>C (p.Leu21Pro)
gnomAD v4
10g.43077320T>GCA376768110RETc.62T>G (p.Leu21Arg)
dbSNP gnomAD v2 gnomAD v4
10g.43077320T=CA1905814239RETc.62T= (p.Leu21=)
10g.43077321G>ACA206710334RETc.63G>A (p.Leu21=)
ClinVar dbSNP gnomAD v4
10g.43077321G>CCA469275120RETc.63G>C (p.Leu21=)
10g.43077321G=CA1905814241RETc.63G= (p.Leu21=)
10g.43077321G>TCA469275117RETc.63G>T (p.Leu21=)
gnomAD v4
10g.43077321_43077322delinsCTCA2580081464RETc.63_64delinsCT (p.Leu21=)
ClinVar
10g.43077322C>ACA376768111RETc.64C>A (p.Leu22Ile)
gnomAD v4
10g.43077322C>GCA376768112RETc.64C>G (p.Leu22Val)
dbSNP
10g.43077322C>TCA469275126RETc.64C>T (p.Leu22=)
gnomAD v4
10g.43077323T>ACA376768113RETc.65T>A (p.Leu22Gln)
gnomAD v4
10g.43077323T>CCA376768114RETc.65T>C (p.Leu22Pro)
gnomAD v4
10g.43077323T>GCA376768115RETc.65T>G (p.Leu22Arg)
10g.43077324A>CCA469275136RETc.66A>C (p.Leu22=)
gnomAD v4
10g.43077324A>GCA469275138RETc.66A>G (p.Leu22=)
gnomAD v4
10g.43077324A>TCA469275140RETc.66A>T (p.Leu22=)
10g.43077325G>ACA376768116RETc.67G>A (p.Gly23Ser)
ClinVar gnomAD v4
10g.43077325G>CCA376768117RETc.67G>C (p.Gly23Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077325G=CA1905814244RETc.67G= (p.Gly23=)
10g.43077325G>TCA376768118RETc.67G>T (p.Gly23Cys)
gnomAD v4
10g.43077326G>ACA376768119RETc.68G>A (p.Gly23Asp)
ClinVar dbSNP gnomAD v4
10g.43077326G>CCA376768120RETc.68G>C (p.Gly23Ala)
gnomAD v4
10g.43077326G=CA1905814246RETc.68G= (p.Gly23=)
10g.43077326G>TCA376768121RETc.68G>T (p.Gly23Val)
ClinVar dbSNP gnomAD v4
10g.43077327C>ACA469275155RETc.69C>A (p.Gly23=)
gnomAD v4
10g.43077327C>GCA469275157RETc.69C>G (p.Gly23=)
ClinVar dbSNP
10g.43077327C>TCA469275160RETc.69C>T (p.Gly23=)
ClinVar dbSNP gnomAD v4
10g.43077328A=CA1905814250RETc.70A= (p.Lys24=)
10g.43077328A>CCA376768122RETc.70A>C (p.Lys24Gln)
10g.43077328A>GCA376768124RETc.70A>G (p.Lys24Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077328A>TCA376768123RETc.70A>T (p.Lys24Ter)
10g.43077330delCA2608894557RETc.72del (p.Val25TrpfsTer?)
c.72del (p.Asp25IlefsTer?)
c.72del (p.Asp25MetfsTer?)
gnomAD v4
10g.43077329A>CCA376768125RETc.71A>C (p.Lys24Thr)
10g.43077329A>GCA376768126RETc.71A>G (p.Lys24Arg)
gnomAD v4
10g.43077329A>TCA376768127RETc.71A>T (p.Lys24Ile)
10g.43077330A=CA1905814253RETc.72A= (p.Lys24=)
10g.43077330A>CCA376768128RETc.72A>C (p.Lys24Asn)
10g.43077330A>GCA469275174RETc.72A>G (p.Lys24=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077330A>TCA376768129RETc.72A>T (p.Lys24Asn)
gnomAD v4
10g.43077331G>ACA376768130RETc.73G>A (p.Val25Met)
c.73G>A (p.Asp25Asn)
gnomAD v4
10g.43077331G>CCA376768132RETc.73G>C (p.Val25Leu)
c.73G>C (p.Asp25His)
gnomAD v4
10g.43077331G>TCA376768131RETc.73G>T (p.Val25Leu)
c.73G>T (p.Asp25Tyr)
10g.43077332G>ACA376768133RETc.73+1G>A (n.73+1G>A)
10g.43077332G>CCA376768135RETc.73+1G>C (n.73+1G>C)
10g.43077332G>TCA376768134RETc.73+1G>T (n.73+1G>T)
dbSNP gnomAD v4
10g.43077333T>ACA376768136RETc.73+2T>A (n.73+2T>A)
gnomAD v4
10g.43077333T>CCA376768137RETc.73+2T>C (n.73+2T>C)
10g.43077333T>GCA376768138RETc.73+2T>G (n.73+2T>G)
10g.43077334G>ACA2608894565RETc.73+3G>A (n.73+3G>A)
ClinVar gnomAD v4
10g.43077334G>TCA2608894566RETc.73+3G>T (n.73+3G>T)
gnomAD v4
10g.43077335A>GCA2608894567RETc.73+4A>G (n.73+4A>G)
gnomAD v4
10g.43077336G>ACA2608894571RETc.73+5G>A (n.73+5G>A)
gnomAD v4
10g.43077336G>CCA2721808114RETc.73+5G>C (n.73+5G>C)
dbSNP
10g.43077336G>TCA2608894569RETc.73+5G>T (n.73+5G>T)
gnomAD v4
10g.43077338T>CCA2721808115RETc.73+7T>C (n.73+7T>C)
dbSNP
10g.43077339C>ACA2608894573RETc.73+8C>A (n.73+8C>A)
gnomAD v4
10g.43077339C=CA1905814255RETc.73+8C= (n.73+8C=)
10g.43077339C>GCA2499220228RETc.73+8C>G (n.73+8C>G)
ClinVar dbSNP gnomAD v4
10g.43077339C>TCA593179005RETc.73+8C>T (n.73+8C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43077339_43077340delinsCTCA1905814256RETc.73+8_73+9delinsCT (n.73+8_73+9delinsCT)
10g.43077340delCA915945893RETc.73+9del (n.73+9del)
ClinVar dbSNP gnomAD v4
10g.43077340T>ACA2721549399RETc.73+9T>A (n.73+9T>A)
dbSNP
10g.43077340T>CCA2608894593RETc.73+9T>C (n.73+9T>C)
gnomAD v4
10g.43077340T>GCA206710335RETc.73+9T>G (n.73+9T>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43077340T=CA1905814260RETc.73+9T= (n.73+9T=)
10g.43077340dupCA2739265337RETc.73+9dup (n.73+9dup)
ClinVar
10g.43077341G>ACA2499220229RETc.73+10G>A (n.73+10G>A)
ClinVar dbSNP gnomAD v4
10g.43077341G>CCA16612995RETc.73+10G>C (n.73+10G>C)
ClinVar dbSNP gnomAD v4
10g.43077341G=CA1905814264RETc.73+10G= (n.73+10G=)
10g.43077341G>TCA2608894604RETc.73+10G>T (n.73+10G>T)
gnomAD v4
10g.43077347_43077353dupCA2608894598RETc.73+16_73+22dup (n.73+16_73+22dup)
gnomAD v4

Number of alleles fetched