Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135833092A>GCA2661276691LCTc.720+19T>C (n.720+19T>C)
gnomAD v4
2g.135833093T>CCA2563208681LCTc.720+18A>G (n.720+18A>G)
ClinVar dbSNP gnomAD v4
2g.135833097dupCA2661276692LCTc.720+18dup (n.720+18dup)
gnomAD v4
2g.135833097delCA2577108108LCTc.720+18del (n.720+18del)
gnomAD v4
2g.135833094T>CCA2661276693LCTc.720+17A>G (n.720+17A>G)
gnomAD v4
2g.135833095T>CCA56636460LCTc.720+16A>G (n.720+16A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.135833095T=CA1290841261LCTc.720+16A= (n.720+16A=)
2g.135833096T>CCA56636461LCTc.720+15A>G (n.720+15A>G)
dbSNP gnomAD v4
2g.135833096T>GCA1888562LCTc.720+15A>C (n.720+15A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833096T=CA1290841262LCTc.720+15A= (n.720+15A=)
2g.135833097T>CCA2661276695LCTc.720+14A>G (n.720+14A>G)
gnomAD v4
2g.135833097T>GCA2661276694LCTc.720+14A>C (n.720+14A>C)
gnomAD v4
2g.135833098G>TCA2661276696LCTc.720+13C>A (n.720+13C>A)
gnomAD v4
2g.135833099G>TCA2661276697LCTc.720+12C>A (n.720+12C>A)
gnomAD v4
2g.135833100G>CCA2580063821LCTc.720+11C>G (n.720+11C>G)
ClinVar
2g.135833100G>TCA2661276698LCTc.720+11C>A (n.720+11C>A)
gnomAD v4
2g.135833101C>ACA2661276699LCTc.720+10G>T (n.720+10G>T)
gnomAD v4
2g.135833101C=CA1290841263LCTc.720+10G= (n.720+10G=)
2g.135833101C>TCA536397307LCTc.720+10G>A (n.720+10G>A)
dbSNP gnomAD v2 gnomAD v4
2g.135833103G>ACA2661276701LCTc.720+8C>T (n.720+8C>T)
gnomAD v4
2g.135833103G>TCA2661276700LCTc.720+8C>A (n.720+8C>A)
gnomAD v4
2g.135833104C>TCA2577108109LCTc.720+7G>A (n.720+7G>A)
gnomAD v4
2g.135833106G>TCA2661276702LCTc.720+5C>A (n.720+5C>A)
gnomAD v4
2g.135833107T>CCA2661276703LCTc.720+4A>G (n.720+4A>G)
gnomAD v4
2g.135833109A>CCA348608712LCTc.720+2T>G (n.720+2T>G)
2g.135833109A>GCA348608713LCTc.720+2T>C (n.720+2T>C)
2g.135833109A>TCA348608714LCTc.720+2T>A (n.720+2T>A)
2g.135833110C>ACA348608715LCTc.720+1G>T (n.720+1G>T)
ClinVar
2g.135833110C>GCA348608716LCTc.720+1G>C (n.720+1G>C)
2g.135833110C>TCA348608717LCTc.720+1G>A (n.720+1G>A)
2g.135833111C>ACA348608718LCTc.720G>T (p.Gln240His)
2g.135833111C>GCA348608719LCTc.720G>C (p.Gln240His)
2g.135833111C>TCA429093485LCTc.720G>A (p.Gln240=)
COSMIC
2g.135833112T>ACA348608721LCTc.719A>T (p.Gln240Leu)
2g.135833112T>CCA348608722LCTc.719A>G (p.Gln240Arg)
gnomAD v4
2g.135833112T>GCA348608720LCTc.719A>C (p.Gln240Pro)
2g.135833113G>ACA348608724LCTc.718C>T (p.Gln240Ter)
gnomAD v4
2g.135833113G>CCA348608723LCTc.718C>G (p.Gln240Glu)
2g.135833113G>TCA348608725LCTc.718C>A (p.Gln240Lys)
2g.135833114G>ACA429093486LCTc.717C>T (p.Ala239=)
dbSNP gnomAD v3 gnomAD v4
2g.135833114G>CCA429093487LCTc.717C>G (p.Ala239=)
2g.135833114G=CA1290841264LCTc.717C= (p.Ala239=)
2g.135833114G>TCA429093488LCTc.717C>A (p.Ala239=)
2g.135833115G>ACA348608726LCTc.716C>T (p.Ala239Val)
2g.135833115G>CCA348608728LCTc.716C>G (p.Ala239Gly)
dbSNP
2g.135833115G=CA1290841265LCTc.716C= (p.Ala239=)
2g.135833115G>TCA348608727LCTc.716C>A (p.Ala239Asp)
2g.135833116C>ACA348608729LCTc.715G>T (p.Ala239Ser)
2g.135833116C=CA1290841266LCTc.715G= (p.Ala239=)
2g.135833116C>GCA348608731LCTc.715G>C (p.Ala239Pro)
dbSNP
2g.135833116C>TCA348608730LCTc.715G>A (p.Ala239Thr)
2g.135833117A>CCA429093489LCTc.714T>G (p.Leu238=)
2g.135833117A>GCA429093490LCTc.714T>C (p.Leu238=)
2g.135833117A>TCA429093491LCTc.714T>A (p.Leu238=)
2g.135833118A>CCA348608732LCTc.713T>G (p.Leu238Arg)
gnomAD v4
2g.135833118A>GCA348608733LCTc.713T>C (p.Leu238Pro)
2g.135833118A>TCA348608734LCTc.713T>A (p.Leu238His)
2g.135833119G>ACA348608735LCTc.712C>T (p.Leu238Phe)
gnomAD v4
2g.135833119G>CCA348608736LCTc.712C>G (p.Leu238Val)
2g.135833119G>TCA348608737LCTc.712C>A (p.Leu238Ile)
2g.135833120C>ACA429093492LCTc.711G>T (p.Ala237=)
ClinVar dbSNP COSMIC
2g.135833120C=CA1290841267LCTc.711G= (p.Ala237=)
2g.135833120C>GCA429093493LCTc.711G>C (p.Ala237=)
2g.135833120C>TCA1888563LCTc.711G>A (p.Ala237=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833121G>ACA1888564LCTc.710C>T (p.Ala237Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833121G>CCA348608738LCTc.710C>G (p.Ala237Gly)
2g.135833121G=CA1290841268LCTc.710C= (p.Ala237=)
2g.135833121G>TCA348608739LCTc.710C>A (p.Ala237Glu)
2g.135833122C>ACA348608740LCTc.709G>T (p.Ala237Ser)
2g.135833122C=CA1290841269LCTc.709G= (p.Ala237=)
2g.135833122C>GCA348608741LCTc.709G>C (p.Ala237Pro)
2g.135833122C>TCA348608742LCTc.709G>A (p.Ala237Thr)
dbSNP gnomAD v2 gnomAD v4
2g.135833123A>CCA429093494LCTc.708T>G (p.Ser236=)
2g.135833123A>GCA429093495LCTc.708T>C (p.Ser236=)
2g.135833123A>TCA429093496LCTc.708T>A (p.Ser236=)
2g.135833124G>ACA348608743LCTc.707C>T (p.Ser236Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135833124G>CCA348608745LCTc.707C>G (p.Ser236Cys)
2g.135833124G=CA1290841270LCTc.707C= (p.Ser236=)
2g.135833124G>TCA348608744LCTc.707C>A (p.Ser236Tyr)
2g.135833125A>CCA348608746LCTc.706T>G (p.Ser236Ala)
COSMIC
2g.135833125A>GCA348608747LCTc.706T>C (p.Ser236Pro)
2g.135833125A>TCA348608748LCTc.706T>A (p.Ser236Thr)
gnomAD v4
2g.135833126T>ACA429093497LCTc.705A>T (p.Ile235=)
2g.135833126T>CCA348608749LCTc.705A>G (p.Ile235Met)
2g.135833126T>GCA429093498LCTc.705A>C (p.Ile235=)
2g.135833126T=CA1290841271LCTc.705A= (p.Ile235=)
2g.135833127A>CCA348608750LCTc.704T>G (p.Ile235Arg)
2g.135833127A>GCA348608751LCTc.704T>C (p.Ile235Thr)
gnomAD v4
2g.135833127A>TCA348608752LCTc.704T>A (p.Ile235Lys)
2g.135833127dupCA916657778LCTc.704dup (p.Ser236IlefsTer14)
dbSNP gnomAD v4
2g.135833128T>ACA348608753LCTc.703A>T (p.Ile235Leu)
2g.135833128T>CCA1888565LCTc.703A>G (p.Ile235Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833128T>GCA348608754LCTc.703A>C (p.Ile235Leu)
2g.135833128T=CA1290841272LCTc.703A= (p.Ile235=)
2g.135833129G>ACA429093501LCTc.702C>T (p.Pro234=)
2g.135833129G>CCA429093500LCTc.702C>G (p.Pro234=)
2g.135833129G>TCA429093499LCTc.702C>A (p.Pro234=)
gnomAD v4
2g.135833130G>ACA1888566LCTc.701C>T (p.Pro234Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833130G>CCA348608756LCTc.701C>G (p.Pro234Arg)
dbSNP gnomAD v2 gnomAD v4
2g.135833130G=CA1290841273LCTc.701C= (p.Pro234=)
2g.135833130G>TCA348608755LCTc.701C>A (p.Pro234His)
2g.135833131G>ACA348608757LCTc.700C>T (p.Pro234Ser)
2g.135833131G>CCA348608758LCTc.700C>G (p.Pro234Ala)
2g.135833131G>TCA348608759LCTc.700C>A (p.Pro234Thr)
2g.135833132T>ACA429093502LCTc.699A>T (p.Pro233=)
2g.135833132T>CCA429093503LCTc.699A>G (p.Pro233=)
2g.135833132T>GCA429093504LCTc.699A>C (p.Pro233=)
2g.135833133G>ACA348608760LCTc.698C>T (p.Pro233Leu)
COSMIC
2g.135833133G>CCA348608761LCTc.698C>G (p.Pro233Arg)
2g.135833133G>TCA348608762LCTc.698C>A (p.Pro233Gln)
gnomAD v4
2g.135833134G>ACA348608765LCTc.697C>T (p.Pro233Ser)
gnomAD v4
2g.135833134G>CCA348608763LCTc.697C>G (p.Pro233Ala)
2g.135833134G>TCA348608764LCTc.697C>A (p.Pro233Thr)
2g.135833135T>ACA348608766LCTc.696A>T (p.Glu232Asp)
2g.135833135T>CCA429093505LCTc.696A>G (p.Glu232=)
2g.135833135T>GCA348608767LCTc.696A>C (p.Glu232Asp)
2g.135833136T>ACA348608768LCTc.695A>T (p.Glu232Val)
2g.135833136T>CCA348608769LCTc.695A>G (p.Glu232Gly)
2g.135833136T>GCA348608770LCTc.695A>C (p.Glu232Ala)
gnomAD v4
2g.135833137C>ACA348608771LCTc.694G>T (p.Glu232Ter)
2g.135833137C>GCA348608773LCTc.694G>C (p.Glu232Gln)
2g.135833137C>TCA348608772LCTc.694G>A (p.Glu232Lys)
2g.135833138T>ACA429093506LCTc.693A>T (p.Leu231=)
2g.135833138T>CCA1888567LCTc.693A>G (p.Leu231=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833138T>GCA429093507LCTc.693A>C (p.Leu231=)
2g.135833138T=CA1290841274LCTc.693A= (p.Leu231=)
2g.135833139A>CCA348608774LCTc.692T>G (p.Leu231Arg)
2g.135833139A>GCA348608775LCTc.692T>C (p.Leu231Pro)
2g.135833139A>TCA348608776LCTc.692T>A (p.Leu231Gln)
2g.135833140G>ACA429093508LCTc.691C>T (p.Leu231=)
2g.135833140G>CCA348608777LCTc.691C>G (p.Leu231Val)
2g.135833140G>TCA348608778LCTc.691C>A (p.Leu231Ile)
2g.135833141C>ACA429093509LCTc.690G>T (p.Leu230=)
2g.135833141C>GCA429093510LCTc.690G>C (p.Leu230=)
2g.135833141C>TCA429093511LCTc.690G>A (p.Leu230=)
gnomAD v4
2g.135833142A=CA1290841275LCTc.689T= (p.Leu230=)
2g.135833142A>CCA348608779LCTc.689T>G (p.Leu230Arg)
2g.135833142A>GCA348608780LCTc.689T>C (p.Leu230Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.135833142A>TCA348608781LCTc.689T>A (p.Leu230Gln)
2g.135833143G>ACA429093512LCTc.688C>T (p.Leu230=)
2g.135833143G>CCA348608782LCTc.688C>G (p.Leu230Val)
2g.135833143G>TCA348608783LCTc.688C>A (p.Leu230Met)
2g.135833144G>ACA1888568LCTc.687C>T (p.Leu229=)
dbSNP ExAC gnomAD v2
2g.135833144G>CCA429093514LCTc.687C>G (p.Leu229=)
2g.135833144G=CA1290841276LCTc.687C= (p.Leu229=)
2g.135833144G>TCA429093513LCTc.687C>A (p.Leu229=)
2g.135833145A>CCA348608785LCTc.686T>G (p.Leu229Arg)
2g.135833145A>GCA348608784LCTc.686T>C (p.Leu229Pro)
2g.135833145A>TCA348608786LCTc.686T>A (p.Leu229His)
2g.135833146G>ACA348608787LCTc.685C>T (p.Leu229Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135833146G>CCA348608788LCTc.685C>G (p.Leu229Val)
dbSNP gnomAD v3 gnomAD v4
2g.135833146G=CA1290841277LCTc.685C= (p.Leu229=)
2g.135833146G>TCA348608789LCTc.685C>A (p.Leu229Ile)
2g.135833147C>ACA348608790LCTc.684G>T (p.Glu228Asp)
COSMIC
2g.135833147C=CA1290841278LCTc.684G= (p.Glu228=)
2g.135833147C>GCA348608791LCTc.684G>C (p.Glu228Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135833147C>TCA429093515LCTc.684G>A (p.Glu228=)
dbSNP gnomAD v2 gnomAD v4
2g.135833148T>ACA348608792LCTc.683A>T (p.Glu228Val)
2g.135833148T>CCA348608793LCTc.683A>G (p.Glu228Gly)
ClinVar dbSNP gnomAD v4
2g.135833148T>GCA348608794LCTc.683A>C (p.Glu228Ala)
2g.135833148T=CA1290841279LCTc.683A= (p.Glu228=)
2g.135833149C>ACA348608795LCTc.682G>T (p.Glu228Ter)
2g.135833149C>GCA348608796LCTc.682G>C (p.Glu228Gln)
gnomAD v4
2g.135833149C>TCA348608797LCTc.682G>A (p.Glu228Lys)
2g.135833150C>ACA429093516LCTc.681G>T (p.Pro227=)
2g.135833150C=CA1290841280LCTc.681G= (p.Pro227=)
2g.135833150C>GCA429093517LCTc.681G>C (p.Pro227=)
2g.135833150C>TCA56636540LCTc.681G>A (p.Pro227=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135833151G>ACA1888569LCTc.680C>T (p.Pro227Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833151G>CCA348608799LCTc.680C>G (p.Pro227Arg)
gnomAD v4
2g.135833151G=CA1290841281LCTc.680C= (p.Pro227=)
2g.135833151G>TCA348608798LCTc.680C>A (p.Pro227Gln)
2g.135833152G>ACA348608800LCTc.679C>T (p.Pro227Ser)
2g.135833152G>CCA1888570LCTc.679C>G (p.Pro227Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833152G=CA1290841282LCTc.679C= (p.Pro227=)
2g.135833152G>TCA348608801LCTc.679C>A (p.Pro227Thr)
2g.135833153G>ACA429093518LCTc.678C>T (p.Ile226=)
2g.135833153G>CCA348608802LCTc.678C>G (p.Ile226Met)
2g.135833153G>TCA429093519LCTc.678C>A (p.Ile226=)
2g.135833154A=CA1290841283LCTc.677T= (p.Ile226=)
2g.135833154A>CCA348608803LCTc.677T>G (p.Ile226Ser)
2g.135833154A>GCA1888571LCTc.677T>C (p.Ile226Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833154A>TCA348608804LCTc.677T>A (p.Ile226Asn)
2g.135833155T>ACA348608805LCTc.676A>T (p.Ile226Phe)
2g.135833155T>CCA348608806LCTc.676A>G (p.Ile226Val)
2g.135833155T>GCA348608807LCTc.676A>C (p.Ile226Leu)
2g.135833156A=CA1290841284LCTc.675T= (p.Asp225=)
2g.135833156A>CCA348608808LCTc.675T>G (p.Asp225Glu)
2g.135833156A>GCA429093520LCTc.675T>C (p.Asp225=)
dbSNP gnomAD v2 gnomAD v4
2g.135833156A>TCA348608809LCTc.675T>A (p.Asp225Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135833157T>ACA348608811LCTc.674A>T (p.Asp225Val)
dbSNP
2g.135833157T>CCA348608812LCTc.674A>G (p.Asp225Gly)
dbSNP
2g.135833157T>GCA348608810LCTc.674A>C (p.Asp225Ala)
dbSNP gnomAD v2 gnomAD v4
2g.135833157T=CA1290841285LCTc.674A= (p.Asp225=)
2g.135833158C>ACA348608813LCTc.673G>T (p.Asp225Tyr)
2g.135833158C>GCA348608814LCTc.673G>C (p.Asp225His)
2g.135833158C>TCA348608815LCTc.673G>A (p.Asp225Asn)
2g.135833159T>ACA348608816LCTc.672A>T (p.Glu224Asp)
2g.135833159T>CCA429093521LCTc.672A>G (p.Glu224=)
2g.135833159T>GCA348608817LCTc.672A>C (p.Glu224Asp)
2g.135833160T>ACA348608820LCTc.671A>T (p.Glu224Val)
2g.135833160T>CCA348608819LCTc.671A>G (p.Glu224Gly)
2g.135833160T>GCA348608818LCTc.671A>C (p.Glu224Ala)
gnomAD v4
2g.135833161C>ACA348608821LCTc.670G>T (p.Glu224Ter)
2g.135833161C>GCA348608822LCTc.670G>C (p.Glu224Gln)
2g.135833161C>TCA348608823LCTc.670G>A (p.Glu224Lys)
2g.135833162A>CCA429093522LCTc.669T>G (p.Ala223=)
2g.135833162A>GCA429093523LCTc.669T>C (p.Ala223=)
2g.135833162A>TCA429093524LCTc.669T>A (p.Ala223=)
2g.135833163G>ACA348608824LCTc.668C>T (p.Ala223Val)
2g.135833163G>CCA348608825LCTc.668C>G (p.Ala223Gly)
2g.135833163G>TCA348608826LCTc.668C>A (p.Ala223Asp)
2g.135833164C>ACA348608827LCTc.667G>T (p.Ala223Ser)
gnomAD v4
2g.135833164C>GCA348608829LCTc.667G>C (p.Ala223Pro)
2g.135833164C>TCA348608828LCTc.667G>A (p.Ala223Thr)
gnomAD v4
2g.135833165T>ACA429093525LCTc.666A>T (p.Arg222=)
2g.135833165T>CCA429093527LCTc.666A>G (p.Arg222=)
2g.135833165T>GCA429093526LCTc.666A>C (p.Arg222=)
2g.135833166C>ACA348608830LCTc.665G>T (p.Arg222Leu)
2g.135833166C=CA1290841286LCTc.665G= (p.Arg222=)
2g.135833166C>GCA348608831LCTc.665G>C (p.Arg222Pro)
gnomAD v4
2g.135833166C>TCA1888572LCTc.665G>A (p.Arg222Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833167G>ACA1888574LCTc.664C>T (p.Arg222Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833167G>CCA348608832LCTc.664C>G (p.Arg222Gly)
dbSNP gnomAD v4
2g.135833167G=CA1290841287LCTc.664C= (p.Arg222=)
2g.135833167G>TCA1888573LCTc.664C>A (p.Arg222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833168C>ACA1888575LCTc.663G>T (p.Leu221=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833168C=CA1290841288LCTc.663G= (p.Leu221=)
2g.135833168C>GCA429093528LCTc.663G>C (p.Leu221=)
2g.135833168C>TCA429093529LCTc.663G>A (p.Leu221=)
2g.135833169A>CCA348608833LCTc.662T>G (p.Leu221Arg)
2g.135833169A>GCA348608834LCTc.662T>C (p.Leu221Pro)
2g.135833169A>TCA348608835LCTc.662T>A (p.Leu221Gln)
2g.135833170G>ACA429093530LCTc.661C>T (p.Leu221=)
gnomAD v4
2g.135833170G>CCA348608836LCTc.661C>G (p.Leu221Val)
2g.135833170G>TCA348608837LCTc.661C>A (p.Leu221Met)
2g.135833171G>ACA429093531LCTc.660C>T (p.Val220=)
dbSNP
2g.135833171G>CCA429093532LCTc.660C>G (p.Val220=)
2g.135833171G=CA1290841289LCTc.660C= (p.Val220=)
2g.135833171G>TCA429093533LCTc.660C>A (p.Val220=)
2g.135833172A>CCA348608838LCTc.659T>G (p.Val220Gly)
2g.135833172A>GCA348608840LCTc.659T>C (p.Val220Ala)
2g.135833172A>TCA348608839LCTc.659T>A (p.Val220Asp)
2g.135833173C>ACA348608841LCTc.658G>T (p.Val220Phe)
gnomAD v4
2g.135833173C>GCA348608843LCTc.658G>C (p.Val220Leu)
2g.135833173C>TCA348608842LCTc.658G>A (p.Val220Ile)
ClinVar
2g.135833174A=CA1290841290LCTc.657T= (p.Val219=)
2g.135833174A>CCA429093535LCTc.657T>G (p.Val219=)
2g.135833174A>GCA56636620LCTc.657T>C (p.Val219=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.135833174A>TCA429093534LCTc.657T>A (p.Val219=)
2g.135833175A>CCA348608846LCTc.656T>G (p.Val219Gly)
2g.135833175A>GCA348608844LCTc.656T>C (p.Val219Ala)
2g.135833175A>TCA348608845LCTc.656T>A (p.Val219Asp)
2g.135833176_135833177delCA2661276704LCTc.655_656del (p.Val219CysfsTer5)
gnomAD v4
2g.135833176C>ACA1888577LCTc.655G>T (p.Val219Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833176C=CA1290841291LCTc.655G= (p.Val219=)
2g.135833176C>GCA348608847LCTc.655G>C (p.Val219Leu)
dbSNP
2g.135833176C>TCA1888576LCTc.655G>A (p.Val219Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833176_135833178delinsCAGCA1290841292LCTc.653_655delinsCTG (p.Ser218=)
2g.135833177A>CCA429093536LCTc.654T>G (p.Ser218=)
2g.135833177A>GCA429093538LCTc.654T>C (p.Ser218=)
2g.135833177A>TCA429093537LCTc.654T>A (p.Ser218=)
2g.135833181_135833182delCA144323LCTc.653_654del (p.Ser218CysfsTer6)
ClinVar dbSNP gnomAD v4
2g.135833178G>ACA348608848LCTc.653C>T (p.Ser218Phe)
2g.135833178G>CCA348608849LCTc.653C>G (p.Ser218Cys)
2g.135833178G>TCA348608850LCTc.653C>A (p.Ser218Tyr)
gnomAD v4
2g.135833179A>CCA348608851LCTc.652T>G (p.Ser218Ala)
2g.135833179A>GCA348608852LCTc.652T>C (p.Ser218Pro)
2g.135833179A>TCA348608853LCTc.652T>A (p.Ser218Thr)
2g.135833180G>ACA429093539LCTc.651C>T (p.Leu217=)
2g.135833180G>CCA429093540LCTc.651C>G (p.Leu217=)
ClinVar
2g.135833180G>TCA429093541LCTc.651C>A (p.Leu217=)
2g.135833181A=CA1290841293LCTc.650T= (p.Leu217=)
2g.135833181A>CCA348608856LCTc.650T>G (p.Leu217Arg)
dbSNP gnomAD v4
2g.135833181A>GCA348608854LCTc.650T>C (p.Leu217Pro)
2g.135833181A>TCA348608855LCTc.650T>A (p.Leu217His)
2g.135833182G>ACA348608857LCTc.649C>T (p.Leu217Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135833182G>CCA1888578LCTc.649C>G (p.Leu217Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833182G=CA1290841294LCTc.649C= (p.Leu217=)
2g.135833182G>TCA348608858LCTc.649C>A (p.Leu217Ile)
2g.135833183T>ACA348608859LCTc.648A>T (p.Lys216Asn)
2g.135833183T>CCA429093542LCTc.648A>G (p.Lys216=)
2g.135833183T>GCA348608860LCTc.648A>C (p.Lys216Asn)
2g.135833184T>ACA348608861LCTc.647A>T (p.Lys216Ile)
2g.135833184T>CCA1888579LCTc.647A>G (p.Lys216Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135833184T>GCA348608862LCTc.647A>C (p.Lys216Thr)
2g.135833184T=CA1290841295LCTc.647A= (p.Lys216=)
2g.135833185T>ACA348608863LCTc.646A>T (p.Lys216Ter)
2g.135833185T>CCA1888580LCTc.646A>G (p.Lys216Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833185T>GCA348608864LCTc.646A>C (p.Lys216Gln)
2g.135833185T=CA1290841296LCTc.646A= (p.Lys216=)
2g.135833186T>ACA429093543LCTc.645A>T (p.Gly215=)
2g.135833186T>CCA429093544LCTc.645A>G (p.Gly215=)
2g.135833186T>GCA429093545LCTc.645A>C (p.Gly215=)
2g.135833187C>ACA348608867LCTc.644G>T (p.Gly215Val)
dbSNP
2g.135833187C=CA1290841297LCTc.644G= (p.Gly215=)
2g.135833187C>GCA348608866LCTc.644G>C (p.Gly215Ala)
2g.135833187C>TCA348608865LCTc.644G>A (p.Gly215Glu)
2g.135833188C>ACA348608868LCTc.643G>T (p.Gly215Ter)
dbSNP gnomAD v4
2g.135833188C=CA1290841298LCTc.643G= (p.Gly215=)
2g.135833188C>GCA348608869LCTc.643G>C (p.Gly215Arg)
2g.135833188C>TCA10610782LCTc.643G>A (p.Gly215Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.135833189G>ACA1888582LCTc.642C>T (p.Gly214=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135833189G>CCA1888581LCTc.642C>G (p.Gly214=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135833189G=CA1290841299LCTc.642C= (p.Gly214=)
2g.135833189G>TCA429093546LCTc.642C>A (p.Gly214=)
gnomAD v4
2g.135833190C>ACA348608870LCTc.641G>T (p.Gly214Val)
2g.135833190C>GCA348608871LCTc.641G>C (p.Gly214Ala)
2g.135833190C>TCA348608872LCTc.641G>A (p.Gly214Asp)
COSMIC
2g.135833191C>ACA348608873LCTc.641-1G>T (n.641-1G>T)
2g.135833191C>GCA348608874LCTc.641-1G>C (n.641-1G>C)
2g.135833191C>TCA348608875LCTc.641-1G>A (n.641-1G>A)
gnomAD v4
2g.135833192T>ACA348608878LCTc.641-2A>T (n.641-2A>T)
dbSNP gnomAD v2 gnomAD v4
2g.135833192T>CCA348608877LCTc.641-2A>G (n.641-2A>G)
gnomAD v4
2g.135833192T>GCA348608876LCTc.641-2A>C (n.641-2A>C)
2g.135833192T=CA1290841300LCTc.641-2A= (n.641-2A=)

Number of alleles fetched