Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53391684T>ACA402471830DCCc.2485T>A (p.Leu829Met)
c.2256+5546T>A
c.2416T>A (p.Leu806Met)
c.1421-31T>A (n.1421-31T>A)
c.1450T>A (p.Leu484Met)
c.2456-31T>A (n.2456-31T>A)
18g.53391684T>CCA503875438DCCc.2485T>C (p.Leu829=)
c.2256+5546T>C
c.2416T>C (p.Leu806=)
c.1421-31T>C (n.1421-31T>C)
c.1450T>C (p.Leu484=)
c.2456-31T>C (n.2456-31T>C)
18g.53391684T>GCA402471831DCCc.2485T>G (p.Leu829Val)
c.2256+5546T>G
c.2416T>G (p.Leu806Val)
c.1421-31T>G (n.1421-31T>G)
c.1450T>G (p.Leu484Val)
c.2456-31T>G (n.2456-31T>G)
18g.53391685T>ACA402471832DCCc.2486T>A (p.Leu829Ter)
c.2256+5547T>A
c.2417T>A (p.Leu806Ter)
c.1421-30T>A (n.1421-30T>A)
c.1451T>A (p.Leu484Ter)
c.2456-30T>A (n.2456-30T>A)
18g.53391685T>CCA402471834DCCc.2486T>C (p.Leu829Ser)
c.2256+5547T>C
c.2417T>C (p.Leu806Ser)
c.1421-30T>C (n.1421-30T>C)
c.1451T>C (p.Leu484Ser)
c.2456-30T>C (n.2456-30T>C)
18g.53391685T>GCA402471833DCCc.2486T>G (p.Leu829Trp)
c.2256+5547T>G
c.2417T>G (p.Leu806Trp)
c.1421-30T>G (n.1421-30T>G)
c.1451T>G (p.Leu484Trp)
c.2456-30T>G (n.2456-30T>G)
18g.53391686G>ACA503875439DCCc.2487G>A (p.Leu829=)
c.2256+5548G>A
c.2418G>A (p.Leu806=)
c.1421-29G>A (n.1421-29G>A)
c.1452G>A (p.Leu484=)
c.2456-29G>A (n.2456-29G>A)
 dbSNP gnomAD v2 gnomAD v4
18g.53391686G>CCA402471835DCCc.2487G>C (p.Leu829Phe)
c.2256+5548G>C
c.2418G>C (p.Leu806Phe)
c.1421-29G>C (n.1421-29G>C)
c.1452G>C (p.Leu484Phe)
c.2456-29G>C (n.2456-29G>C)
18g.53391686G=CA2304132131DCCc.2487G= (p.Leu829=)
c.2256+5548G=
c.2418G= (p.Leu806=)
c.1421-29G= (n.1421-29G=)
c.1452G= (p.Leu484=)
c.2456-29G= (n.2456-29G=)
18g.53391686G>TCA402471836DCCc.2487G>T (p.Leu829Phe)
c.2256+5548G>T
c.2418G>T (p.Leu806Phe)
c.1421-29G>T (n.1421-29G>T)
c.1452G>T (p.Leu484Phe)
c.2456-29G>T (n.2456-29G>T)
18g.53391687C>ACA402471837DCCc.2488C>A (p.Leu830Ile)
c.2256+5549C>A
c.2419C>A (p.Leu807Ile)
c.1421-28C>A (n.1421-28C>A)
c.1453C>A (p.Leu485Ile)
c.2456-28C>A (n.2456-28C>A)
18g.53391687C>GCA402471838DCCc.2488C>G (p.Leu830Val)
c.2256+5549C>G
c.2419C>G (p.Leu807Val)
c.1421-28C>G (n.1421-28C>G)
c.1453C>G (p.Leu485Val)
c.2456-28C>G (n.2456-28C>G)
18g.53391687C>TCA402471839DCCc.2488C>T (p.Leu830Phe)
c.2256+5549C>T
c.2419C>T (p.Leu807Phe)
c.1421-28C>T (n.1421-28C>T)
c.1453C>T (p.Leu485Phe)
c.2456-28C>T (n.2456-28C>T)
18g.53391688T>ACA402471840DCCc.2489T>A (p.Leu830His)
c.2256+5550T>A
c.2420T>A (p.Leu807His)
c.1421-27T>A (n.1421-27T>A)
c.1454T>A (p.Leu485His)
c.2456-27T>A (n.2456-27T>A)
18g.53391688T>CCA402471841DCCc.2489T>C (p.Leu830Pro)
c.2256+5550T>C
c.2420T>C (p.Leu807Pro)
c.1421-27T>C (n.1421-27T>C)
c.1454T>C (p.Leu485Pro)
c.2456-27T>C (n.2456-27T>C)
18g.53391688T>GCA402471842DCCc.2489T>G (p.Leu830Arg)
c.2256+5550T>G
c.2420T>G (p.Leu807Arg)
c.1421-27T>G (n.1421-27T>G)
c.1454T>G (p.Leu485Arg)
c.2456-27T>G (n.2456-27T>G)
 gnomAD v4
18g.53391689T>ACA503875440DCCc.2490T>A (p.Leu830=)
c.2256+5551T>A
c.2421T>A (p.Leu807=)
c.1421-26T>A (n.1421-26T>A)
c.1455T>A (p.Leu485=)
c.2456-26T>A (n.2456-26T>A)
18g.53391689T>CCA503875441DCCc.2490T>C (p.Leu830=)
c.2256+5551T>C
c.2421T>C (p.Leu807=)
c.1421-26T>C (n.1421-26T>C)
c.1455T>C (p.Leu485=)
c.2456-26T>C (n.2456-26T>C)
18g.53391689T>GCA503875442DCCc.2490T>G (p.Leu830=)
c.2256+5551T>G
c.2421T>G (p.Leu807=)
c.1421-26T>G (n.1421-26T>G)
c.1455T>G (p.Leu485=)
c.2456-26T>G (n.2456-26T>G)
18g.53391690G>ACA300692932DCCc.2491G>A (p.Asp831Asn)
c.2256+5552G>A
c.2422G>A (p.Asp808Asn)
c.1421-25G>A (n.1421-25G>A)
c.1456G>A (p.Asp486Asn)
c.2456-25G>A (n.2456-25G>A)
 dbSNP gnomAD v4 COSMIC
18g.53391690G>CCA402471843DCCc.2491G>C (p.Asp831His)
c.2256+5552G>C
c.2422G>C (p.Asp808His)
c.1421-25G>C (n.1421-25G>C)
c.1456G>C (p.Asp486His)
c.2456-25G>C (n.2456-25G>C)
18g.53391690G=CA2304132132DCCc.2491G= (p.Asp831=)
c.2256+5552G=
c.2422G= (p.Asp808=)
c.1421-25G= (n.1421-25G=)
c.1456G= (p.Asp486=)
c.2456-25G= (n.2456-25G=)
18g.53391690G>TCA402471844DCCc.2491G>T (p.Asp831Tyr)
c.2256+5552G>T
c.2422G>T (p.Asp808Tyr)
c.1421-25G>T (n.1421-25G>T)
c.1456G>T (p.Asp486Tyr)
c.2456-25G>T (n.2456-25G>T)
18g.53391691A>CCA402471846DCCc.2492A>C (p.Asp831Ala)
c.2256+5553A>C
c.2423A>C (p.Asp808Ala)
c.1421-24A>C (n.1421-24A>C)
c.1457A>C (p.Asp486Ala)
c.2456-24A>C (n.2456-24A>C)
18g.53391691A>GCA402471847DCCc.2492A>G (p.Asp831Gly)
c.2256+5553A>G
c.2423A>G (p.Asp808Gly)
c.1421-24A>G (n.1421-24A>G)
c.1457A>G (p.Asp486Gly)
c.2456-24A>G (n.2456-24A>G)
18g.53391691A>TCA402471845DCCc.2492A>T (p.Asp831Val)
c.2256+5553A>T
c.2423A>T (p.Asp808Val)
c.1421-24A>T (n.1421-24A>T)
c.1457A>T (p.Asp486Val)
c.2456-24A>T (n.2456-24A>T)
18g.53391692T>ACA402471849DCCc.2493T>A (p.Asp831Glu)
c.2256+5554T>A
c.2424T>A (p.Asp808Glu)
c.1421-23T>A (n.1421-23T>A)
c.1458T>A (p.Asp486Glu)
c.2456-23T>A (n.2456-23T>A)
 gnomAD v4
18g.53391692T>CCA503875443DCCc.2493T>C (p.Asp831=)
c.2256+5554T>C
c.2424T>C (p.Asp808=)
c.1421-23T>C (n.1421-23T>C)
c.1458T>C (p.Asp486=)
c.2456-23T>C (n.2456-23T>C)
18g.53391692T>GCA402471848DCCc.2493T>G (p.Asp831Glu)
c.2256+5554T>G
c.2424T>G (p.Asp808Glu)
c.1421-23T>G (n.1421-23T>G)
c.1458T>G (p.Asp486Glu)
c.2456-23T>G (n.2456-23T>G)
18g.53391693G>ACA8967217DCCc.2494G>A (p.Asp832Asn)
c.2256+5555G>A
c.2425G>A (p.Asp809Asn)
c.1421-22G>A (n.1421-22G>A)
c.1459G>A (p.Asp487Asn)
c.2456-22G>A (n.2456-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391693G>CCA402471850DCCc.2494G>C (p.Asp832His)
c.2256+5555G>C
c.2425G>C (p.Asp809His)
c.1421-22G>C (n.1421-22G>C)
c.1459G>C (p.Asp487His)
c.2456-22G>C (n.2456-22G>C)
18g.53391693G=CA2304132133DCCc.2494G= (p.Asp832=)
c.2256+5555G=
c.2425G= (p.Asp809=)
c.1421-22G= (n.1421-22G=)
c.1459G= (p.Asp487=)
c.2456-22G= (n.2456-22G=)
18g.53391693G>TCA402471851DCCc.2494G>T (p.Asp832Tyr)
c.2256+5555G>T
c.2425G>T (p.Asp809Tyr)
c.1421-22G>T (n.1421-22G>T)
c.1459G>T (p.Asp487Tyr)
c.2456-22G>T (n.2456-22G>T)
18g.53391694A=CA2304132134DCCc.2495A= (p.Asp832=)
c.2256+5556A=
c.2426A= (p.Asp809=)
c.1421-21A= (n.1421-21A=)
c.1460A= (p.Asp487=)
c.2456-21A= (n.2456-21A=)
18g.53391694A>CCA402471852DCCc.2495A>C (p.Asp832Ala)
c.2256+5556A>C
c.2426A>C (p.Asp809Ala)
c.1421-21A>C (n.1421-21A>C)
c.1460A>C (p.Asp487Ala)
c.2456-21A>C (n.2456-21A>C)
18g.53391694A>GCA402471853DCCc.2495A>G (p.Asp832Gly)
c.2256+5556A>G
c.2426A>G (p.Asp809Gly)
c.1421-21A>G (n.1421-21A>G)
c.1460A>G (p.Asp487Gly)
c.2456-21A>G (n.2456-21A>G)
 dbSNP
18g.53391694A>TCA402471854DCCc.2495A>T (p.Asp832Val)
c.2256+5556A>T
c.2426A>T (p.Asp809Val)
c.1421-21A>T (n.1421-21A>T)
c.1460A>T (p.Asp487Val)
c.2456-21A>T (n.2456-21A>T)
18g.53391695T>ACA402471855DCCc.2496T>A (p.Asp832Glu)
c.2256+5557T>A
c.2427T>A (p.Asp809Glu)
c.1421-20T>A (n.1421-20T>A)
c.1461T>A (p.Asp487Glu)
c.2456-20T>A (n.2456-20T>A)
18g.53391695T>CCA503875444DCCc.2496T>C (p.Asp832=)
c.2256+5557T>C
c.2427T>C (p.Asp809=)
c.1421-20T>C (n.1421-20T>C)
c.1461T>C (p.Asp487=)
c.2456-20T>C (n.2456-20T>C)
 dbSNP
18g.53391695T>GCA402471856DCCc.2496T>G (p.Asp832Glu)
c.2256+5557T>G
c.2427T>G (p.Asp809Glu)
c.1421-20T>G (n.1421-20T>G)
c.1461T>G (p.Asp487Glu)
c.2456-20T>G (n.2456-20T>G)
18g.53391695T=CA2304132135DCCc.2496T= (p.Asp832=)
c.2256+5557T=
c.2427T= (p.Asp809=)
c.1421-20T= (n.1421-20T=)
c.1461T= (p.Asp487=)
c.2456-20T= (n.2456-20T=)
18g.53391697delCA2641857522DCCc.2498del (p.Phe833SerfsTer16)
c.2256+5559del
c.2429del (p.Phe810SerfsTer16)
c.1421-18del (n.1421-18del)
c.1463del (p.Phe488SerfsTer16)
c.2456-18del (n.2456-18del)
 gnomAD v4
18g.53391696T>ACA402471857DCCc.2497T>A (p.Phe833Ile)
c.2256+5558T>A
c.2428T>A (p.Phe810Ile)
c.1421-19T>A (n.1421-19T>A)
c.1462T>A (p.Phe488Ile)
c.2456-19T>A (n.2456-19T>A)
 dbSNP gnomAD v3 gnomAD v4
18g.53391696T>CCA402471858DCCc.2497T>C (p.Phe833Leu)
c.2256+5558T>C
c.2428T>C (p.Phe810Leu)
c.1421-19T>C (n.1421-19T>C)
c.1462T>C (p.Phe488Leu)
c.2456-19T>C (n.2456-19T>C)
18g.53391696T>GCA402471859DCCc.2497T>G (p.Phe833Val)
c.2256+5558T>G
c.2428T>G (p.Phe810Val)
c.1421-19T>G (n.1421-19T>G)
c.1462T>G (p.Phe488Val)
c.2456-19T>G (n.2456-19T>G)
18g.53391696T=CA2304132136DCCc.2497T= (p.Phe833=)
c.2256+5558T=
c.2428T= (p.Phe810=)
c.1421-19T= (n.1421-19T=)
c.1462T= (p.Phe488=)
c.2456-19T= (n.2456-19T=)
18g.53391697T>ACA402471862DCCc.2498T>A (p.Phe833Tyr)
c.2256+5559T>A
c.2429T>A (p.Phe810Tyr)
c.1421-18T>A (n.1421-18T>A)
c.1463T>A (p.Phe488Tyr)
c.2456-18T>A (n.2456-18T>A)
18g.53391697T>CCA402471861DCCc.2498T>C (p.Phe833Ser)
c.2256+5559T>C
c.2429T>C (p.Phe810Ser)
c.1421-18T>C (n.1421-18T>C)
c.1463T>C (p.Phe488Ser)
c.2456-18T>C (n.2456-18T>C)
18g.53391697T>GCA402471860DCCc.2498T>G (p.Phe833Cys)
c.2256+5559T>G
c.2429T>G (p.Phe810Cys)
c.1421-18T>G (n.1421-18T>G)
c.1463T>G (p.Phe488Cys)
c.2456-18T>G (n.2456-18T>G)
18g.53391698C>ACA402471863DCCc.2499C>A (p.Phe833Leu)
c.2256+5560C>A
c.2430C>A (p.Phe810Leu)
c.1421-17C>A (n.1421-17C>A)
c.1464C>A (p.Phe488Leu)
c.2456-17C>A (n.2456-17C>A)
18g.53391698C>GCA402471864DCCc.2499C>G (p.Phe833Leu)
c.2256+5560C>G
c.2430C>G (p.Phe810Leu)
c.1421-17C>G (n.1421-17C>G)
c.1464C>G (p.Phe488Leu)
c.2456-17C>G (n.2456-17C>G)
18g.53391698C>TCA503875445DCCc.2499C>T (p.Phe833=)
c.2256+5560C>T
c.2430C>T (p.Phe810=)
c.1421-17C>T (n.1421-17C>T)
c.1464C>T (p.Phe488=)
c.2456-17C>T (n.2456-17C>T)
 dbSNP
18g.53391699C>ACA402471865DCCc.2500C>A (p.Pro834Thr)
c.2256+5561C>A
c.2431C>A (p.Pro811Thr)
c.1421-16C>A (n.1421-16C>A)
c.1465C>A (p.Pro489Thr)
c.2456-16C>A (n.2456-16C>A)
18g.53391699C>GCA402471866DCCc.2500C>G (p.Pro834Ala)
c.2256+5561C>G
c.2431C>G (p.Pro811Ala)
c.1421-16C>G (n.1421-16C>G)
c.1465C>G (p.Pro489Ala)
c.2456-16C>G (n.2456-16C>G)
18g.53391699C>TCA402471867DCCc.2500C>T (p.Pro834Ser)
c.2256+5561C>T
c.2431C>T (p.Pro811Ser)
c.1421-16C>T (n.1421-16C>T)
c.1465C>T (p.Pro489Ser)
c.2456-16C>T (n.2456-16C>T)
 dbSNP
18g.53391700C>ACA402471868DCCc.2501C>A (p.Pro834His)
c.2256+5562C>A
c.2432C>A (p.Pro811His)
c.1421-15C>A (n.1421-15C>A)
c.1466C>A (p.Pro489His)
c.2456-15C>A (n.2456-15C>A)
 gnomAD v4
18g.53391700C>GCA402471869DCCc.2501C>G (p.Pro834Arg)
c.2256+5562C>G
c.2432C>G (p.Pro811Arg)
c.1421-15C>G (n.1421-15C>G)
c.1466C>G (p.Pro489Arg)
c.2456-15C>G (n.2456-15C>G)
18g.53391700C>TCA402471870DCCc.2501C>T (p.Pro834Leu)
c.2256+5562C>T
c.2432C>T (p.Pro811Leu)
c.1421-15C>T (n.1421-15C>T)
c.1466C>T (p.Pro489Leu)
c.2456-15C>T (n.2456-15C>T)
 dbSNP
18g.53391701C>ACA503875446DCCc.2502C>A (p.Pro834=)
c.2256+5563C>A
c.2433C>A (p.Pro811=)
c.1421-14C>A (n.1421-14C>A)
c.1467C>A (p.Pro489=)
c.2456-14C>A (n.2456-14C>A)
18g.53391701C=CA2304132137DCCc.2502C= (p.Pro834=)
c.2256+5563C=
c.2433C= (p.Pro811=)
c.1421-14C= (n.1421-14C=)
c.1467C= (p.Pro489=)
c.2456-14C= (n.2456-14C=)
18g.53391701C>GCA503875447DCCc.2502C>G (p.Pro834=)
c.2256+5563C>G
c.2433C>G (p.Pro811=)
c.1421-14C>G (n.1421-14C>G)
c.1467C>G (p.Pro489=)
c.2456-14C>G (n.2456-14C>G)
18g.53391701C>TCA8967218DCCc.2502C>T (p.Pro834=)
c.2256+5563C>T
c.2433C>T (p.Pro811=)
c.1421-14C>T (n.1421-14C>T)
c.1467C>T (p.Pro489=)
c.2456-14C>T (n.2456-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391702A=CA2304132138DCCc.2503A= (p.Thr835=)
c.2256+5564A=
c.2434A= (p.Thr812=)
c.1421-13A= (n.1421-13A=)
c.1468A= (p.Thr490=)
c.2456-13A= (n.2456-13A=)
18g.53391702A>CCA402471871DCCc.2503A>C (p.Thr835Pro)
c.2256+5564A>C
c.2434A>C (p.Thr812Pro)
c.1421-13A>C (n.1421-13A>C)
c.1468A>C (p.Thr490Pro)
c.2456-13A>C (n.2456-13A>C)
18g.53391702A>GCA402471872DCCc.2503A>G (p.Thr835Ala)
c.2256+5564A>G
c.2434A>G (p.Thr812Ala)
c.1421-13A>G (n.1421-13A>G)
c.1468A>G (p.Thr490Ala)
c.2456-13A>G (n.2456-13A>G)
18g.53391702A>TCA402471873DCCc.2503A>T (p.Thr835Ser)
c.2256+5564A>T
c.2434A>T (p.Thr812Ser)
c.1421-13A>T (n.1421-13A>T)
c.1468A>T (p.Thr490Ser)
c.2456-13A>T (n.2456-13A>T)
 dbSNP
18g.53391703C>ACA402471875DCCc.2504C>A (p.Thr835Asn)
c.2256+5565C>A
c.2435C>A (p.Thr812Asn)
c.1421-12C>A (n.1421-12C>A)
c.1469C>A (p.Thr490Asn)
c.2456-12C>A (n.2456-12C>A)
 COSMIC
18g.53391703C>GCA402471876DCCc.2504C>G (p.Thr835Ser)
c.2256+5565C>G
c.2435C>G (p.Thr812Ser)
c.1421-12C>G (n.1421-12C>G)
c.1469C>G (p.Thr490Ser)
c.2456-12C>G (n.2456-12C>G)
18g.53391703C>TCA402471874DCCc.2504C>T (p.Thr835Ile)
c.2256+5565C>T
c.2435C>T (p.Thr812Ile)
c.1421-12C>T (n.1421-12C>T)
c.1469C>T (p.Thr490Ile)
c.2456-12C>T (n.2456-12C>T)
18g.53391704C>ACA503875476DCCc.2505C>A (p.Thr835=)
c.2256+5566C>A
c.2436C>A (p.Thr812=)
c.1421-11C>A (n.1421-11C>A)
c.1470C>A (p.Thr490=)
c.2456-11C>A (n.2456-11C>A)
18g.53391704C>GCA503875474DCCc.2505C>G (p.Thr835=)
c.2256+5566C>G
c.2436C>G (p.Thr812=)
c.1421-11C>G (n.1421-11C>G)
c.1470C>G (p.Thr490=)
c.2456-11C>G (n.2456-11C>G)
18g.53391704C>TCA503875472DCCc.2505C>T (p.Thr835=)
c.2256+5566C>T
c.2436C>T (p.Thr812=)
c.1421-11C>T (n.1421-11C>T)
c.1470C>T (p.Thr490=)
c.2456-11C>T (n.2456-11C>T)
18g.53391705T>ACA402471877DCCc.2506T>A (p.Ser836Thr)
c.2256+5567T>A
c.2437T>A (p.Ser813Thr)
c.1421-10T>A (n.1421-10T>A)
c.1471T>A (p.Ser491Thr)
c.2456-10T>A (n.2456-10T>A)
18g.53391705T>CCA402471878DCCc.2506T>C (p.Ser836Pro)
c.2256+5567T>C
c.2437T>C (p.Ser813Pro)
c.1421-10T>C (n.1421-10T>C)
c.1471T>C (p.Ser491Pro)
c.2456-10T>C (n.2456-10T>C)
18g.53391705T>GCA402471879DCCc.2506T>G (p.Ser836Ala)
c.2256+5567T>G
c.2437T>G (p.Ser813Ala)
c.1421-10T>G (n.1421-10T>G)
c.1471T>G (p.Ser491Ala)
c.2456-10T>G (n.2456-10T>G)
18g.53391706C>ACA402471880DCCc.2507C>A (p.Ser836Ter)
c.2256+5568C>A
c.2438C>A (p.Ser813Ter)
c.1421-9C>A (n.1421-9C>A)
c.1472C>A (p.Ser491Ter)
c.2456-9C>A (n.2456-9C>A)
18g.53391706C=CA2304132139DCCc.2507C= (p.Ser836=)
c.2256+5568C=
c.2438C= (p.Ser813=)
c.1421-9C= (n.1421-9C=)
c.1472C= (p.Ser491=)
c.2456-9C= (n.2456-9C=)
18g.53391706C>GCA8967220DCCc.2507C>G (p.Ser836Trp)
c.2256+5568C>G
c.2438C>G (p.Ser813Trp)
c.1421-9C>G (n.1421-9C>G)
c.1472C>G (p.Ser491Trp)
c.2456-9C>G (n.2456-9C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391706C>TCA8967219DCCc.2507C>T (p.Ser836Leu)
c.2256+5568C>T
c.2438C>T (p.Ser813Leu)
c.1421-9C>T (n.1421-9C>T)
c.1472C>T (p.Ser491Leu)
c.2456-9C>T (n.2456-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391707G>ACA503875484DCCc.2508G>A (p.Ser836=)
c.2256+5569G>A
c.2439G>A (p.Ser813=)
c.1421-8G>A (n.1421-8G>A)
c.1473G>A (p.Ser491=)
c.2456-8G>A (n.2456-8G>A)
 dbSNP gnomAD v2 gnomAD v4
18g.53391707G>CCA8967221DCCc.2508G>C (p.Ser836=)
c.2256+5569G>C
c.2439G>C (p.Ser813=)
c.1421-8G>C (n.1421-8G>C)
c.1473G>C (p.Ser491=)
c.2456-8G>C (n.2456-8G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391707G=CA2304132140DCCc.2508G= (p.Ser836=)
c.2256+5569G=
c.2439G= (p.Ser813=)
c.1421-8G= (n.1421-8G=)
c.1473G= (p.Ser491=)
c.2456-8G= (n.2456-8G=)
18g.53391707G>TCA503875487DCCc.2508G>T (p.Ser836=)
c.2256+5569G>T
c.2439G>T (p.Ser813=)
c.1421-8G>T (n.1421-8G>T)
c.1473G>T (p.Ser491=)
c.2456-8G>T (n.2456-8G>T)
 dbSNP
18g.53391708G>ACA402471881DCCc.2509G>A (p.Val837Ile)
c.2256+5570G>A
c.2440G>A (p.Val814Ile)
c.1421-7G>A (n.1421-7G>A)
c.1474G>A (p.Val492Ile)
c.2456-7G>A (n.2456-7G>A)
18g.53391708G>CCA402471883DCCc.2509G>C (p.Val837Leu)
c.2256+5570G>C
c.2440G>C (p.Val814Leu)
c.1421-7G>C (n.1421-7G>C)
c.1474G>C (p.Val492Leu)
c.2456-7G>C (n.2456-7G>C)
18g.53391708G>TCA402471882DCCc.2509G>T (p.Val837Phe)
c.2256+5570G>T
c.2440G>T (p.Val814Phe)
c.1421-7G>T (n.1421-7G>T)
c.1474G>T (p.Val492Phe)
c.2456-7G>T (n.2456-7G>T)
18g.53391708_53391728dupCA2641857523DCCc.2509_2529dup (p.Pro843_Met844insValProAspLeuSerThrPro)
c.2256+5570_2257-5580dup
c.2440_2460dup (p.Pro820_Met821insValProAspLeuSerThrPro)
c.1421-7_1434dup
c.1474_1494dup (p.Pro498_Met499insValProAspLeuSerThrPro)
c.2456-7_2469dup
 gnomAD v4
18g.53391709T>ACA402471884DCCc.2510T>A (p.Val837Asp)
c.2256+5571T>A
c.2441T>A (p.Val814Asp)
c.1421-6T>A (n.1421-6T>A)
c.1475T>A (p.Val492Asp)
c.2456-6T>A (n.2456-6T>A)
18g.53391709T>CCA402471885DCCc.2510T>C (p.Val837Ala)
c.2256+5571T>C
c.2441T>C (p.Val814Ala)
c.1421-6T>C (n.1421-6T>C)
c.1475T>C (p.Val492Ala)
c.2456-6T>C (n.2456-6T>C)
 COSMIC COSMIC
18g.53391709T>GCA402471886DCCc.2510T>G (p.Val837Gly)
c.2256+5571T>G
c.2441T>G (p.Val814Gly)
c.1421-6T>G (n.1421-6T>G)
c.1475T>G (p.Val492Gly)
c.2456-6T>G (n.2456-6T>G)
 ClinVar
18g.53391710C>ACA503875496DCCc.2511C>A (p.Val837=)
c.2256+5572C>A
c.2442C>A (p.Val814=)
c.1421-5C>A (n.1421-5C>A)
c.1476C>A (p.Val492=)
c.2456-5C>A (n.2456-5C>A)
18g.53391710C=CA2304132141DCCc.2511C= (p.Val837=)
c.2256+5572C=
c.2442C= (p.Val814=)
c.1421-5C= (n.1421-5C=)
c.1476C= (p.Val492=)
c.2456-5C= (n.2456-5C=)
18g.53391710C>GCA503875499DCCc.2511C>G (p.Val837=)
c.2256+5572C>G
c.2442C>G (p.Val814=)
c.1421-5C>G (n.1421-5C>G)
c.1476C>G (p.Val492=)
c.2456-5C>G (n.2456-5C>G)
18g.53391710C>TCA300692947DCCc.2511C>T (p.Val837=)
c.2256+5572C>T
c.2442C>T (p.Val814=)
c.1421-5C>T (n.1421-5C>T)
c.1476C>T (p.Val492=)
c.2456-5C>T (n.2456-5C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391711C>ACA402471887DCCc.2512C>A (p.Pro838Thr)
c.2256+5573C>A
c.2443C>A (p.Pro815Thr)
c.1421-4C>A (n.1421-4C>A)
c.1477C>A (p.Pro493Thr)
c.2456-4C>A (n.2456-4C>A)
18g.53391711C>GCA402471889DCCc.2512C>G (p.Pro838Ala)
c.2256+5573C>G
c.2443C>G (p.Pro815Ala)
c.1421-4C>G (n.1421-4C>G)
c.1477C>G (p.Pro493Ala)
c.2456-4C>G (n.2456-4C>G)
18g.53391711C>TCA402471888DCCc.2512C>T (p.Pro838Ser)
c.2256+5573C>T
c.2443C>T (p.Pro815Ser)
c.1421-4C>T (n.1421-4C>T)
c.1477C>T (p.Pro493Ser)
c.2456-4C>T (n.2456-4C>T)
18g.53391712C>ACA402471890DCCc.2513C>A (p.Pro838Gln)
c.2256+5574C>A
c.2444C>A (p.Pro815Gln)
c.1421-3C>A (n.1421-3C>A)
c.1478C>A (p.Pro493Gln)
c.2456-3C>A (n.2456-3C>A)
18g.53391712C=CA2304132142DCCc.2513C= (p.Pro838=)
c.2256+5574C=
c.2444C= (p.Pro815=)
c.1421-3C= (n.1421-3C=)
c.1478C= (p.Pro493=)
c.2456-3C= (n.2456-3C=)
18g.53391712C>GCA402471891DCCc.2513C>G (p.Pro838Arg)
c.2256+5574C>G
c.2444C>G (p.Pro815Arg)
c.1421-3C>G (n.1421-3C>G)
c.1478C>G (p.Pro493Arg)
c.2456-3C>G (n.2456-3C>G)
18g.53391712C>TCA402471892DCCc.2513C>T (p.Pro838Leu)
c.2256+5574C>T
c.2444C>T (p.Pro815Leu)
c.1421-3C>T (n.1421-3C>T)
c.1478C>T (p.Pro493Leu)
c.2456-3C>T (n.2456-3C>T)
 dbSNP gnomAD v2 gnomAD v4
18g.53391713A>CCA402471893DCCc.2514A>C (p.Pro838=)
c.2256+5575A>C
c.2445A>C (p.Pro815=)
c.1421-2A>C (n.1421-2A>C)
c.1479A>C (p.Pro493=)
c.2456-2A>C (n.2456-2A>C)
 COSMIC COSMIC
18g.53391713A>GCA402471894DCCc.2514A>G (p.Pro838=)
c.2256+5575A>G
c.2445A>G (p.Pro815=)
c.1421-2A>G (n.1421-2A>G)
c.1479A>G (p.Pro493=)
c.2456-2A>G (n.2456-2A>G)
18g.53391713A>TCA402471895DCCc.2514A>T (p.Pro838=)
c.2256+5575A>T
c.2445A>T (p.Pro815=)
c.1421-2A>T (n.1421-2A>T)
c.1479A>T (p.Pro493=)
c.2456-2A>T (n.2456-2A>T)
18g.53391714G>ACA402471896DCCc.2515G>A (p.Asp839Asn)
c.2256+5576G>A
c.2446G>A (p.Asp816Asn)
c.1421-1G>A (n.1421-1G>A)
c.1480G>A (p.Asp494Asn)
c.2456-1G>A (n.2456-1G>A)
 COSMIC COSMIC
18g.53391714G>CCA402471897DCCc.2515G>C (p.Asp839His)
c.2256+5576G>C
c.2446G>C (p.Asp816His)
c.1421-1G>C (n.1421-1G>C)
c.1480G>C (p.Asp494His)
c.2456-1G>C (n.2456-1G>C)
18g.53391714G>TCA402471898DCCc.2515G>T (p.Asp839Tyr)
c.2256+5576G>T
c.2446G>T (p.Asp816Tyr)
c.1421-1G>T (n.1421-1G>T)
c.1480G>T (p.Asp494Tyr)
c.2456-1G>T (n.2456-1G>T)
 gnomAD v4
18g.53391715A>CCA402471899DCCc.2516A>C (p.Asp839Ala)
c.2256+5577A>C
c.2447A>C (p.Asp816Ala)
c.1421A>C (p.Asp474Ala)
c.1481A>C (p.Asp494Ala)
c.2456A>C (p.Asp819Ala)
18g.53391715A>GCA402471900DCCc.2516A>G (p.Asp839Gly)
c.2256+5577A>G
c.2447A>G (p.Asp816Gly)
c.1421A>G (p.Asp474Gly)
c.1481A>G (p.Asp494Gly)
c.2456A>G (p.Asp819Gly)
18g.53391715A>TCA402471901DCCc.2516A>T (p.Asp839Val)
c.2256+5577A>T
c.2447A>T (p.Asp816Val)
c.1421A>T (p.Asp474Val)
c.1481A>T (p.Asp494Val)
c.2456A>T (p.Asp819Val)
18g.53391716T>ACA402471903DCCc.2517T>A (p.Asp839Glu)
c.2256+5578T>A
c.2448T>A (p.Asp816Glu)
c.1422T>A (p.Asp474Glu)
c.1482T>A (p.Asp494Glu)
c.2457T>A (p.Asp819Glu)
18g.53391716T>CCA503875518DCCc.2517T>C (p.Asp839=)
c.2256+5578T>C
c.2448T>C (p.Asp816=)
c.1422T>C (p.Asp474=)
c.1482T>C (p.Asp494=)
c.2457T>C (p.Asp819=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53391716T>GCA402471902DCCc.2517T>G (p.Asp839Glu)
c.2256+5578T>G
c.2448T>G (p.Asp816Glu)
c.1422T>G (p.Asp474Glu)
c.1482T>G (p.Asp494Glu)
c.2457T>G (p.Asp819Glu)
18g.53391716T=CA2304132143DCCc.2517T= (p.Asp839=)
c.2256+5578T=
c.2448T= (p.Asp816=)
c.1422T= (p.Asp474=)
c.1482T= (p.Asp494=)
c.2457T= (p.Asp819=)
18g.53391717C>ACA402471904DCCc.2518C>A (p.Leu840Ile)
c.2256+5579C>A
c.2449C>A (p.Leu817Ile)
c.1423C>A (p.Leu475Ile)
c.1483C>A (p.Leu495Ile)
c.2458C>A (p.Leu820Ile)
18g.53391717C=CA2304132144DCCc.2518C= (p.Leu840=)
c.2256+5579C=
c.2449C= (p.Leu817=)
c.1423C= (p.Leu475=)
c.1483C= (p.Leu495=)
c.2458C= (p.Leu820=)
18g.53391717C>GCA402471905DCCc.2518C>G (p.Leu840Val)
c.2256+5579C>G
c.2449C>G (p.Leu817Val)
c.1423C>G (p.Leu475Val)
c.1483C>G (p.Leu495Val)
c.2458C>G (p.Leu820Val)
 COSMIC COSMIC
18g.53391717C>TCA300692950DCCc.2518C>T (p.Leu840Phe)
c.2256+5579C>T
c.2449C>T (p.Leu817Phe)
c.1423C>T (p.Leu475Phe)
c.1483C>T (p.Leu495Phe)
c.2458C>T (p.Leu820Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53391718T>ACA402471906DCCc.2519T>A (p.Leu840His)
c.2256+5580T>A
c.2450T>A (p.Leu817His)
c.1424T>A (p.Leu475His)
c.1484T>A (p.Leu495His)
c.2459T>A (p.Leu820His)
18g.53391718T>CCA402471907DCCc.2519T>C (p.Leu840Pro)
c.2256+5580T>C
c.2450T>C (p.Leu817Pro)
c.1424T>C (p.Leu475Pro)
c.1484T>C (p.Leu495Pro)
c.2459T>C (p.Leu820Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.53391718T>GCA402471908DCCc.2519T>G (p.Leu840Arg)
c.2256+5580T>G
c.2450T>G (p.Leu817Arg)
c.1424T>G (p.Leu475Arg)
c.1484T>G (p.Leu495Arg)
c.2459T>G (p.Leu820Arg)
18g.53391718T=CA2304132145DCCc.2519T= (p.Leu840=)
c.2256+5580T=
c.2450T= (p.Leu817=)
c.1424T= (p.Leu475=)
c.1484T= (p.Leu495=)
c.2459T= (p.Leu820=)
18g.53391719C>ACA503875526DCCc.2520C>A (p.Leu840=)
c.2256+5581C>A
c.2451C>A (p.Leu817=)
c.1425C>A (p.Leu475=)
c.1485C>A (p.Leu495=)
c.2460C>A (p.Leu820=)
18g.53391719C>GCA503875529DCCc.2520C>G (p.Leu840=)
c.2256+5581C>G
c.2451C>G (p.Leu817=)
c.1425C>G (p.Leu475=)
c.1485C>G (p.Leu495=)
c.2460C>G (p.Leu820=)
 gnomAD v4 COSMIC COSMIC
18g.53391719C>TCA503875531DCCc.2520C>T (p.Leu840=)
c.2256+5581C>T
c.2451C>T (p.Leu817=)
c.1425C>T (p.Leu475=)
c.1485C>T (p.Leu495=)
c.2460C>T (p.Leu820=)
18g.53391720T>ACA402471911DCCc.2521T>A (p.Ser841Thr)
c.2256+5582T>A
c.2452T>A (p.Ser818Thr)
c.1426T>A (p.Ser476Thr)
c.1486T>A (p.Ser496Thr)
c.2461T>A (p.Ser821Thr)
18g.53391720T>CCA402471910DCCc.2521T>C (p.Ser841Pro)
c.2256+5582T>C
c.2452T>C (p.Ser818Pro)
c.1426T>C (p.Ser476Pro)
c.1486T>C (p.Ser496Pro)
c.2461T>C (p.Ser821Pro)
 gnomAD v4
18g.53391720T>GCA402471909DCCc.2521T>G (p.Ser841Ala)
c.2256+5582T>G
c.2452T>G (p.Ser818Ala)
c.1426T>G (p.Ser476Ala)
c.1486T>G (p.Ser496Ala)
c.2461T>G (p.Ser821Ala)
18g.53391721C>ACA402471912DCCc.2522C>A (p.Ser841Tyr)
c.2256+5583C>A
c.2453C>A (p.Ser818Tyr)
c.1427C>A (p.Ser476Tyr)
c.1487C>A (p.Ser496Tyr)
c.2462C>A (p.Ser821Tyr)
18g.53391721C=CA2304132146DCCc.2522C= (p.Ser841=)
c.2256+5583C=
c.2453C= (p.Ser818=)
c.1427C= (p.Ser476=)
c.1487C= (p.Ser496=)
c.2462C= (p.Ser821=)
18g.53391721C>GCA402471913DCCc.2522C>G (p.Ser841Cys)
c.2256+5583C>G
c.2453C>G (p.Ser818Cys)
c.1427C>G (p.Ser476Cys)
c.1487C>G (p.Ser496Cys)
c.2462C>G (p.Ser821Cys)
18g.53391721C>TCA8967222DCCc.2522C>T (p.Ser841Phe)
c.2256+5583C>T
c.2453C>T (p.Ser818Phe)
c.1427C>T (p.Ser476Phe)
c.1487C>T (p.Ser496Phe)
c.2462C>T (p.Ser821Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391722C>ACA503875541DCCc.2523C>A (p.Ser841=)
c.2256+5584C>A
c.2454C>A (p.Ser818=)
c.1428C>A (p.Ser476=)
c.1488C>A (p.Ser496=)
c.2463C>A (p.Ser821=)
18g.53391722C=CA2304132147DCCc.2523C= (p.Ser841=)
c.2256+5584C=
c.2454C= (p.Ser818=)
c.1428C= (p.Ser476=)
c.1488C= (p.Ser496=)
c.2463C= (p.Ser821=)
18g.53391722C>GCA503875542DCCc.2523C>G (p.Ser841=)
c.2256+5584C>G
c.2454C>G (p.Ser818=)
c.1428C>G (p.Ser476=)
c.1488C>G (p.Ser496=)
c.2463C>G (p.Ser821=)
18g.53391722C>TCA503875544DCCc.2523C>T (p.Ser841=)
c.2256+5584C>T
c.2454C>T (p.Ser818=)
c.1428C>T (p.Ser476=)
c.1488C>T (p.Ser496=)
c.2463C>T (p.Ser821=)
 dbSNP gnomAD v2 gnomAD v4
18g.53391723A>CCA402471914DCCc.2524A>C (p.Thr842Pro)
c.2257-5585A>C
c.2455A>C (p.Thr819Pro)
c.1429A>C (p.Thr477Pro)
c.1489A>C (p.Thr497Pro)
c.2464A>C (p.Thr822Pro)
18g.53391723A>GCA402471915DCCc.2524A>G (p.Thr842Ala)
c.2257-5585A>G
c.2455A>G (p.Thr819Ala)
c.1429A>G (p.Thr477Ala)
c.1489A>G (p.Thr497Ala)
c.2464A>G (p.Thr822Ala)
18g.53391723A>TCA402471916DCCc.2524A>T (p.Thr842Ser)
c.2257-5585A>T
c.2455A>T (p.Thr819Ser)
c.1429A>T (p.Thr477Ser)
c.1489A>T (p.Thr497Ser)
c.2464A>T (p.Thr822Ser)
18g.53391724C>ACA402471919DCCc.2525C>A (p.Thr842Asn)
c.2257-5584C>A
c.2456C>A (p.Thr819Asn)
c.1430C>A (p.Thr477Asn)
c.1490C>A (p.Thr497Asn)
c.2465C>A (p.Thr822Asn)
18g.53391724C=CA2304132148DCCc.2525C= (p.Thr842=)
c.2257-5584C=
c.2456C= (p.Thr819=)
c.1430C= (p.Thr477=)
c.1490C= (p.Thr497=)
c.2465C= (p.Thr822=)
18g.53391724C>GCA402471917DCCc.2525C>G (p.Thr842Ser)
c.2257-5584C>G
c.2456C>G (p.Thr819Ser)
c.1430C>G (p.Thr477Ser)
c.1490C>G (p.Thr497Ser)
c.2465C>G (p.Thr822Ser)
18g.53391724C>TCA402471918DCCc.2525C>T (p.Thr842Ile)
c.2257-5584C>T
c.2456C>T (p.Thr819Ile)
c.1430C>T (p.Thr477Ile)
c.1490C>T (p.Thr497Ile)
c.2465C>T (p.Thr822Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53391725C>ACA503875555DCCc.2526C>A (p.Thr842=)
c.2257-5583C>A
c.2457C>A (p.Thr819=)
c.1431C>A (p.Thr477=)
c.1491C>A (p.Thr497=)
c.2466C>A (p.Thr822=)
18g.53391725C>GCA503875557DCCc.2526C>G (p.Thr842=)
c.2257-5583C>G
c.2457C>G (p.Thr819=)
c.1431C>G (p.Thr477=)
c.1491C>G (p.Thr497=)
c.2466C>G (p.Thr822=)
18g.53391725C>TCA503875558DCCc.2526C>T (p.Thr842=)
c.2257-5583C>T
c.2457C>T (p.Thr819=)
c.1431C>T (p.Thr477=)
c.1491C>T (p.Thr497=)
c.2466C>T (p.Thr822=)
18g.53391725_53391726insACA2812531629DCCc.2526_2527insA (p.Pro843ThrfsTer16)
c.2257-5583_2257-5582insA
c.2457_2458insA (p.Pro820ThrfsTer16)
c.1431_1432insA (p.Pro478ThrfsTer16)
c.1491_1492insA (p.Pro498ThrfsTer16)
c.2466_2467insA (p.Pro823ThrfsTer16)
18g.53391726C>ACA402471920DCCc.2527C>A (p.Pro843Thr)
c.2257-5582C>A
c.2458C>A (p.Pro820Thr)
c.1432C>A (p.Pro478Thr)
c.1492C>A (p.Pro498Thr)
c.2467C>A (p.Pro823Thr)
18g.53391726C>GCA402471921DCCc.2527C>G (p.Pro843Ala)
c.2257-5582C>G
c.2458C>G (p.Pro820Ala)
c.1432C>G (p.Pro478Ala)
c.1492C>G (p.Pro498Ala)
c.2467C>G (p.Pro823Ala)
18g.53391726C>TCA402471922DCCc.2527C>T (p.Pro843Ser)
c.2257-5582C>T
c.2458C>T (p.Pro820Ser)
c.1432C>T (p.Pro478Ser)
c.1492C>T (p.Pro498Ser)
c.2467C>T (p.Pro823Ser)
18g.53391727C>ACA402471923DCCc.2528C>A (p.Pro843His)
c.2257-5581C>A
c.2459C>A (p.Pro820His)
c.1433C>A (p.Pro478His)
c.1493C>A (p.Pro498His)
c.2468C>A (p.Pro823His)
 dbSNP gnomAD v4
18g.53391727C=CA2304132149DCCc.2528C= (p.Pro843=)
c.2257-5581C=
c.2459C= (p.Pro820=)
c.1433C= (p.Pro478=)
c.1493C= (p.Pro498=)
c.2468C= (p.Pro823=)
18g.53391727C>GCA300692956DCCc.2528C>G (p.Pro843Arg)
c.2257-5581C>G
c.2459C>G (p.Pro820Arg)
c.1433C>G (p.Pro478Arg)
c.1493C>G (p.Pro498Arg)
c.2468C>G (p.Pro823Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.53391727C>TCA402471924DCCc.2528C>T (p.Pro843Leu)
c.2257-5581C>T
c.2459C>T (p.Pro820Leu)
c.1433C>T (p.Pro478Leu)
c.1493C>T (p.Pro498Leu)
c.2468C>T (p.Pro823Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.53391728C>ACA503875566DCCc.2529C>A (p.Pro843=)
c.2257-5580C>A
c.2460C>A (p.Pro820=)
c.1434C>A (p.Pro478=)
c.1494C>A (p.Pro498=)
c.2469C>A (p.Pro823=)
18g.53391728C=CA2304132150DCCc.2529C= (p.Pro843=)
c.2257-5580C=
c.2460C= (p.Pro820=)
c.1434C= (p.Pro478=)
c.1494C= (p.Pro498=)
c.2469C= (p.Pro823=)
18g.53391728C>GCA300692960DCCc.2529C>G (p.Pro843=)
c.2257-5580C>G
c.2460C>G (p.Pro820=)
c.1434C>G (p.Pro478=)
c.1494C>G (p.Pro498=)
c.2469C>G (p.Pro823=)
 dbSNP
18g.53391728C>TCA503875573DCCc.2529C>T (p.Pro843=)
c.2257-5580C>T
c.2460C>T (p.Pro820=)
c.1434C>T (p.Pro478=)
c.1494C>T (p.Pro498=)
c.2469C>T (p.Pro823=)
18g.53391729_53391730insCCAAACACACCCAACACACA2812531630DCCc.2530_2531insCCAAACACACCCAACACA (p.Pro843_Met844insThrLysHisThrGlnHis)
c.2257-5579_2257-5578insCCAAACACACCCAACACA
c.2461_2462insCCAAACACACCCAACACA (p.Pro820_Met821insThrLysHisThrGlnHis)
c.1435_1436insCCAAACACACCCAACACA (p.Pro478_Met479insThrLysHisThrGlnHis)
c.1495_1496insCCAAACACACCCAACACA (p.Pro498_Met499insThrLysHisThrGlnHis)
c.2470_2471insCCAAACACACCCAACACA (p.Pro823_Met824insThrLysHisThrGlnHis)
18g.53391729A>CCA402471925DCCc.2530A>C (p.Met844Leu)
c.2257-5579A>C
c.2461A>C (p.Met821Leu)
c.1435A>C (p.Met479Leu)
c.1495A>C (p.Met499Leu)
c.2470A>C (p.Met824Leu)
18g.53391729A>GCA402471926DCCc.2530A>G (p.Met844Val)
c.2257-5579A>G
c.2461A>G (p.Met821Val)
c.1435A>G (p.Met479Val)
c.1495A>G (p.Met499Val)
c.2470A>G (p.Met824Val)
 gnomAD v4
18g.53391729A>TCA402471927DCCc.2530A>T (p.Met844Leu)
c.2257-5579A>T
c.2461A>T (p.Met821Leu)
c.1435A>T (p.Met479Leu)
c.1495A>T (p.Met499Leu)
c.2470A>T (p.Met824Leu)
18g.53391730T>ACA402471928DCCc.2531T>A (p.Met844Lys)
c.2257-5578T>A
c.2462T>A (p.Met821Lys)
c.1436T>A (p.Met479Lys)
c.1496T>A (p.Met499Lys)
c.2471T>A (p.Met824Lys)
18g.53391730T>CCA402471929DCCc.2531T>C (p.Met844Thr)
c.2257-5578T>C
c.2462T>C (p.Met821Thr)
c.1436T>C (p.Met479Thr)
c.1496T>C (p.Met499Thr)
c.2471T>C (p.Met824Thr)
 gnomAD v4
18g.53391730T>GCA402471930DCCc.2531T>G (p.Met844Arg)
c.2257-5578T>G
c.2462T>G (p.Met821Arg)
c.1436T>G (p.Met479Arg)
c.1496T>G (p.Met499Arg)
c.2471T>G (p.Met824Arg)
 dbSNP
18g.53391730T=CA2304132151DCCc.2531T= (p.Met844=)
c.2257-5578T=
c.2462T= (p.Met821=)
c.1436T= (p.Met479=)
c.1496T= (p.Met499=)
c.2471T= (p.Met824=)
18g.53391731G>ACA402471931DCCc.2532G>A (p.Met844Ile)
c.2257-5577G>A
c.2463G>A (p.Met821Ile)
c.1437G>A (p.Met479Ile)
c.1497G>A (p.Met499Ile)
c.2472G>A (p.Met824Ile)
 dbSNP
18g.53391731G>CCA402471933DCCc.2532G>C (p.Met844Ile)
c.2257-5577G>C
c.2463G>C (p.Met821Ile)
c.1437G>C (p.Met479Ile)
c.1497G>C (p.Met499Ile)
c.2472G>C (p.Met824Ile)
18g.53391731G=CA2304132152DCCc.2532G= (p.Met844=)
c.2257-5577G=
c.2463G= (p.Met821=)
c.1437G= (p.Met479=)
c.1497G= (p.Met499=)
c.2472G= (p.Met824=)
18g.53391731G>TCA402471932DCCc.2532G>T (p.Met844Ile)
c.2257-5577G>T
c.2463G>T (p.Met821Ile)
c.1437G>T (p.Met479Ile)
c.1497G>T (p.Met499Ile)
c.2472G>T (p.Met824Ile)
18g.53391732C>ACA402471934DCCc.2533C>A (p.Leu845Ile)
c.2257-5576C>A
c.2464C>A (p.Leu822Ile)
c.1438C>A (p.Leu480Ile)
c.1498C>A (p.Leu500Ile)
c.2473C>A (p.Leu825Ile)
18g.53391732C=CA2304132153DCCc.2533C= (p.Leu845=)
c.2257-5576C=
c.2464C= (p.Leu822=)
c.1438C= (p.Leu480=)
c.1498C= (p.Leu500=)
c.2473C= (p.Leu825=)
18g.53391732C>GCA402471935DCCc.2533C>G (p.Leu845Val)
c.2257-5576C>G
c.2464C>G (p.Leu822Val)
c.1438C>G (p.Leu480Val)
c.1498C>G (p.Leu500Val)
c.2473C>G (p.Leu825Val)
18g.53391732C>TCA402471936DCCc.2533C>T (p.Leu845Phe)
c.2257-5576C>T
c.2464C>T (p.Leu822Phe)
c.1438C>T (p.Leu480Phe)
c.1498C>T (p.Leu500Phe)
c.2473C>T (p.Leu825Phe)
 dbSNP
18g.53391733T>ACA402471937DCCc.2534T>A (p.Leu845His)
c.2257-5575T>A
c.2465T>A (p.Leu822His)
c.1439T>A (p.Leu480His)
c.1499T>A (p.Leu500His)
c.2474T>A (p.Leu825His)
18g.53391733T>CCA402471938DCCc.2534T>C (p.Leu845Pro)
c.2257-5575T>C
c.2465T>C (p.Leu822Pro)
c.1439T>C (p.Leu480Pro)
c.1499T>C (p.Leu500Pro)
c.2474T>C (p.Leu825Pro)
18g.53391733T>GCA402471939DCCc.2534T>G (p.Leu845Arg)
c.2257-5575T>G
c.2465T>G (p.Leu822Arg)
c.1439T>G (p.Leu480Arg)
c.1499T>G (p.Leu500Arg)
c.2474T>G (p.Leu825Arg)
18g.53391734C>ACA503875591DCCc.2535C>A (p.Leu845=)
c.2257-5574C>A
c.2466C>A (p.Leu822=)
c.1440C>A (p.Leu480=)
c.1500C>A (p.Leu500=)
c.2475C>A (p.Leu825=)
18g.53391734C=CA2304132154DCCc.2535C= (p.Leu845=)
c.2257-5574C=
c.2466C= (p.Leu822=)
c.1440C= (p.Leu480=)
c.1500C= (p.Leu500=)
c.2475C= (p.Leu825=)
18g.53391734C>GCA503875594DCCc.2535C>G (p.Leu845=)
c.2257-5574C>G
c.2466C>G (p.Leu822=)
c.1440C>G (p.Leu480=)
c.1500C>G (p.Leu500=)
c.2475C>G (p.Leu825=)
18g.53391734C>TCA8967223DCCc.2535C>T (p.Leu845=)
c.2257-5574C>T
c.2466C>T (p.Leu822=)
c.1440C>T (p.Leu480=)
c.1500C>T (p.Leu500=)
c.2475C>T (p.Leu825=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391735C>ACA402471940DCCc.2536C>A (p.Pro846Thr)
c.2257-5573C>A
c.2467C>A (p.Pro823Thr)
c.1441C>A (p.Pro481Thr)
c.1501C>A (p.Pro501Thr)
c.2476C>A (p.Pro826Thr)
18g.53391735C>GCA402471941DCCc.2536C>G (p.Pro846Ala)
c.2257-5573C>G
c.2467C>G (p.Pro823Ala)
c.1441C>G (p.Pro481Ala)
c.1501C>G (p.Pro501Ala)
c.2476C>G (p.Pro826Ala)
18g.53391735C>TCA402471942DCCc.2536C>T (p.Pro846Ser)
c.2257-5573C>T
c.2467C>T (p.Pro823Ser)
c.1441C>T (p.Pro481Ser)
c.1501C>T (p.Pro501Ser)
c.2476C>T (p.Pro826Ser)
18g.53391736C>ACA402471943DCCc.2537C>A (p.Pro846Gln)
c.2257-5572C>A
c.2468C>A (p.Pro823Gln)
c.1442C>A (p.Pro481Gln)
c.1502C>A (p.Pro501Gln)
c.2477C>A (p.Pro826Gln)
18g.53391736C>GCA402471944DCCc.2537C>G (p.Pro846Arg)
c.2257-5572C>G
c.2468C>G (p.Pro823Arg)
c.1442C>G (p.Pro481Arg)
c.1502C>G (p.Pro501Arg)
c.2477C>G (p.Pro826Arg)
18g.53391736C>TCA402471945DCCc.2537C>T (p.Pro846Leu)
c.2257-5572C>T
c.2468C>T (p.Pro823Leu)
c.1442C>T (p.Pro481Leu)
c.1502C>T (p.Pro501Leu)
c.2477C>T (p.Pro826Leu)
18g.53391737A>CCA503875602DCCc.2538A>C (p.Pro846=)
c.2257-5571A>C
c.2469A>C (p.Pro823=)
c.1443A>C (p.Pro481=)
c.1503A>C (p.Pro501=)
c.2478A>C (p.Pro826=)
18g.53391737A>GCA503875607DCCc.2538A>G (p.Pro846=)
c.2257-5571A>G
c.2469A>G (p.Pro823=)
c.1443A>G (p.Pro481=)
c.1503A>G (p.Pro501=)
c.2478A>G (p.Pro826=)
18g.53391737A>TCA503875604DCCc.2538A>T (p.Pro846=)
c.2257-5571A>T
c.2469A>T (p.Pro823=)
c.1443A>T (p.Pro481=)
c.1503A>T (p.Pro501=)
c.2478A>T (p.Pro826=)
18g.53391738C>ACA402471948DCCc.2539C>A (p.Pro847Thr)
c.2257-5570C>A
c.2470C>A (p.Pro824Thr)
c.1444C>A (p.Pro482Thr)
c.1504C>A (p.Pro502Thr)
c.2479C>A (p.Pro827Thr)
 COSMIC COSMIC
18g.53391738C>GCA402471946DCCc.2539C>G (p.Pro847Ala)
c.2257-5570C>G
c.2470C>G (p.Pro824Ala)
c.1444C>G (p.Pro482Ala)
c.1504C>G (p.Pro502Ala)
c.2479C>G (p.Pro827Ala)
18g.53391738C>TCA402471947DCCc.2539C>T (p.Pro847Ser)
c.2257-5570C>T
c.2470C>T (p.Pro824Ser)
c.1444C>T (p.Pro482Ser)
c.1504C>T (p.Pro502Ser)
c.2479C>T (p.Pro827Ser)
18g.53391739delCA2580095841DCCc.2540del (p.Pro847GlnfsTer2)
c.2257-5569del
c.2471del (p.Pro824GlnfsTer2)
c.1445del (p.Pro482GlnfsTer2)
c.1505del (p.Pro502GlnfsTer2)
c.2480del (p.Pro827GlnfsTer2)
 ClinVar
18g.53391739C>ACA402471949DCCc.2540C>A (p.Pro847Gln)
c.2257-5569C>A
c.2471C>A (p.Pro824Gln)
c.1445C>A (p.Pro482Gln)
c.1505C>A (p.Pro502Gln)
c.2480C>A (p.Pro827Gln)
18g.53391739C>GCA402471950DCCc.2540C>G (p.Pro847Arg)
c.2257-5569C>G
c.2471C>G (p.Pro824Arg)
c.1445C>G (p.Pro482Arg)
c.1505C>G (p.Pro502Arg)
c.2480C>G (p.Pro827Arg)
18g.53391739C>TCA402471951DCCc.2540C>T (p.Pro847Leu)
c.2257-5569C>T
c.2471C>T (p.Pro824Leu)
c.1445C>T (p.Pro482Leu)
c.1505C>T (p.Pro502Leu)
c.2480C>T (p.Pro827Leu)
 gnomAD v4
18g.53391740A=CA2304132155DCCc.2541A= (p.Pro847=)
c.2257-5568A=
c.2472A= (p.Pro824=)
c.1446A= (p.Pro482=)
c.1506A= (p.Pro502=)
c.2481A= (p.Pro827=)
18g.53391740A>CCA503875615DCCc.2541A>C (p.Pro847=)
c.2257-5568A>C
c.2472A>C (p.Pro824=)
c.1446A>C (p.Pro482=)
c.1506A>C (p.Pro502=)
c.2481A>C (p.Pro827=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53391740A>GCA503875617DCCc.2541A>G (p.Pro847=)
c.2257-5568A>G
c.2472A>G (p.Pro824=)
c.1446A>G (p.Pro482=)
c.1506A>G (p.Pro502=)
c.2481A>G (p.Pro827=)
18g.53391740A>TCA503875620DCCc.2541A>T (p.Pro847=)
c.2257-5568A>T
c.2472A>T (p.Pro824=)
c.1446A>T (p.Pro482=)
c.1506A>T (p.Pro502=)
c.2481A>T (p.Pro827=)
18g.53391741G>ACA402471952DCCc.2542G>A (p.Val848Ile)
c.2257-5567G>A
c.2473G>A (p.Val825Ile)
c.1447G>A (p.Val483Ile)
c.1507G>A (p.Val503Ile)
c.2482G>A (p.Val828Ile)
18g.53391741G>CCA402471953DCCc.2542G>C (p.Val848Leu)
c.2257-5567G>C
c.2473G>C (p.Val825Leu)
c.1447G>C (p.Val483Leu)
c.1507G>C (p.Val503Leu)
c.2482G>C (p.Val828Leu)
18g.53391741G>TCA402471954DCCc.2542G>T (p.Val848Leu)
c.2257-5567G>T
c.2473G>T (p.Val825Leu)
c.1447G>T (p.Val483Leu)
c.1507G>T (p.Val503Leu)
c.2482G>T (p.Val828Leu)
 COSMIC COSMIC
18g.53391742T>ACA402471955DCCc.2543T>A (p.Val848Glu)
c.2257-5566T>A
c.2474T>A (p.Val825Glu)
c.1448T>A (p.Val483Glu)
c.1508T>A (p.Val503Glu)
c.2483T>A (p.Val828Glu)
18g.53391742T>CCA402471956DCCc.2543T>C (p.Val848Ala)
c.2257-5566T>C
c.2474T>C (p.Val825Ala)
c.1448T>C (p.Val483Ala)
c.1508T>C (p.Val503Ala)
c.2483T>C (p.Val828Ala)
18g.53391742T>GCA402471957DCCc.2543T>G (p.Val848Gly)
c.2257-5566T>G
c.2474T>G (p.Val825Gly)
c.1448T>G (p.Val483Gly)
c.1508T>G (p.Val503Gly)
c.2483T>G (p.Val828Gly)
18g.53391743A>CCA503875627DCCc.2544A>C (p.Val848=)
c.2257-5565A>C
c.2475A>C (p.Val825=)
c.1449A>C (p.Val483=)
c.1509A>C (p.Val503=)
c.2484A>C (p.Val828=)
18g.53391743A>GCA503875629DCCc.2544A>G (p.Val848=)
c.2257-5565A>G
c.2475A>G (p.Val825=)
c.1449A>G (p.Val483=)
c.1509A>G (p.Val503=)
c.2484A>G (p.Val828=)
18g.53391743A>TCA503875631DCCc.2544A>T (p.Val848=)
c.2257-5565A>T
c.2475A>T (p.Val825=)
c.1449A>T (p.Val483=)
c.1509A>T (p.Val503=)
c.2484A>T (p.Val828=)
18g.53391744G>ACA402471958DCCc.2545G>A (p.Gly849Ser)
c.2257-5564G>A
c.2476G>A (p.Gly826Ser)
c.1450G>A (p.Gly484Ser)
c.1510G>A (p.Gly504Ser)
c.2485G>A (p.Gly829Ser)
18g.53391744G>CCA402471959DCCc.2545G>C (p.Gly849Arg)
c.2257-5564G>C
c.2476G>C (p.Gly826Arg)
c.1450G>C (p.Gly484Arg)
c.1510G>C (p.Gly504Arg)
c.2485G>C (p.Gly829Arg)
18g.53391744G>TCA402471960DCCc.2545G>T (p.Gly849Cys)
c.2257-5564G>T
c.2476G>T (p.Gly826Cys)
c.1450G>T (p.Gly484Cys)
c.1510G>T (p.Gly504Cys)
c.2485G>T (p.Gly829Cys)
 gnomAD v4
18g.53391745G>ACA402471962DCCc.2546G>A (p.Gly849Asp)
c.2257-5563G>A
c.2477G>A (p.Gly826Asp)
c.1451G>A (p.Gly484Asp)
c.1511G>A (p.Gly504Asp)
c.2486G>A (p.Gly829Asp)
18g.53391745G>CCA402471963DCCc.2546G>C (p.Gly849Ala)
c.2257-5563G>C
c.2477G>C (p.Gly826Ala)
c.1451G>C (p.Gly484Ala)
c.1511G>C (p.Gly504Ala)
c.2486G>C (p.Gly829Ala)
18g.53391745G>TCA402471961DCCc.2546G>T (p.Gly849Val)
c.2257-5563G>T
c.2477G>T (p.Gly826Val)
c.1451G>T (p.Gly484Val)
c.1511G>T (p.Gly504Val)
c.2486G>T (p.Gly829Val)
18g.53391746T>ACA503875645DCCc.2547T>A (p.Gly849=)
c.2257-5562T>A
c.2478T>A (p.Gly826=)
c.1452T>A (p.Gly484=)
c.1512T>A (p.Gly504=)
c.2487T>A (p.Gly829=)
18g.53391746T>CCA300692965DCCc.2547T>C (p.Gly849=)
c.2257-5562T>C
c.2478T>C (p.Gly826=)
c.1452T>C (p.Gly484=)
c.1512T>C (p.Gly504=)
c.2487T>C (p.Gly829=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.53391746T>GCA503875643DCCc.2547T>G (p.Gly849=)
c.2257-5562T>G
c.2478T>G (p.Gly826=)
c.1452T>G (p.Gly484=)
c.1512T>G (p.Gly504=)
c.2487T>G (p.Gly829=)
18g.53391746T=CA2304132156DCCc.2547T= (p.Gly849=)
c.2257-5562T=
c.2478T= (p.Gly826=)
c.1452T= (p.Gly484=)
c.1512T= (p.Gly504=)
c.2487T= (p.Gly829=)
18g.53391747G>ACA8967224DCCc.2548G>A (p.Val850Ile)
c.2257-5561G>A
c.2479G>A (p.Val827Ile)
c.1453G>A (p.Val485Ile)
c.1513G>A (p.Val505Ile)
c.2488G>A (p.Val830Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391747G>CCA402471964DCCc.2548G>C (p.Val850Leu)
c.2257-5561G>C
c.2479G>C (p.Val827Leu)
c.1453G>C (p.Val485Leu)
c.1513G>C (p.Val505Leu)
c.2488G>C (p.Val830Leu)
18g.53391747G=CA2304132157DCCc.2548G= (p.Val850=)
c.2257-5561G=
c.2479G= (p.Val827=)
c.1453G= (p.Val485=)
c.1513G= (p.Val505=)
c.2488G= (p.Val830=)
18g.53391747G>TCA402471965DCCc.2548G>T (p.Val850Leu)
c.2257-5561G>T
c.2479G>T (p.Val827Leu)
c.1453G>T (p.Val485Leu)
c.1513G>T (p.Val505Leu)
c.2488G>T (p.Val830Leu)
18g.53391748T>ACA402471966DCCc.2549T>A (p.Val850Glu)
c.2257-5560T>A
c.2480T>A (p.Val827Glu)
c.1454T>A (p.Val485Glu)
c.1514T>A (p.Val505Glu)
c.2489T>A (p.Val830Glu)
18g.53391748T>CCA402471967DCCc.2549T>C (p.Val850Ala)
c.2257-5560T>C
c.2480T>C (p.Val827Ala)
c.1454T>C (p.Val485Ala)
c.1514T>C (p.Val505Ala)
c.2489T>C (p.Val830Ala)
18g.53391748T>GCA402471968DCCc.2549T>G (p.Val850Gly)
c.2257-5560T>G
c.2480T>G (p.Val827Gly)
c.1454T>G (p.Val485Gly)
c.1514T>G (p.Val505Gly)
c.2489T>G (p.Val830Gly)
18g.53391749A=CA2304132158DCCc.2550A= (p.Val850=)
c.2257-5559A=
c.2481A= (p.Val827=)
c.1455A= (p.Val485=)
c.1515A= (p.Val505=)
c.2490A= (p.Val830=)
18g.53391749A>CCA503875655DCCc.2550A>C (p.Val850=)
c.2257-5559A>C
c.2481A>C (p.Val827=)
c.1455A>C (p.Val485=)
c.1515A>C (p.Val505=)
c.2490A>C (p.Val830=)
18g.53391749A>GCA8967225DCCc.2550A>G (p.Val850=)
c.2257-5559A>G
c.2481A>G (p.Val827=)
c.1455A>G (p.Val485=)
c.1515A>G (p.Val505=)
c.2490A>G (p.Val830=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53391749A>TCA503875658DCCc.2550A>T (p.Val850=)
c.2257-5559A>T
c.2481A>T (p.Val827=)
c.1455A>T (p.Val485=)
c.1515A>T (p.Val505=)
c.2490A>T (p.Val830=)
18g.53391750C>ACA402471969DCCc.2551C>A (p.Gln851Lys)
c.2257-5558C>A
c.2482C>A (p.Gln828Lys)
c.1456C>A (p.Gln486Lys)
c.1516C>A (p.Gln506Lys)
c.2491C>A (p.Gln831Lys)
18g.53391750C>GCA402471970DCCc.2551C>G (p.Gln851Glu)
c.2257-5558C>G
c.2482C>G (p.Gln828Glu)
c.1456C>G (p.Gln486Glu)
c.1516C>G (p.Gln506Glu)
c.2491C>G (p.Gln831Glu)
18g.53391750C>TCA402471971DCCc.2551C>T (p.Gln851Ter)
c.2257-5558C>T
c.2482C>T (p.Gln828Ter)
c.1456C>T (p.Gln486Ter)
c.1516C>T (p.Gln506Ter)
c.2491C>T (p.Gln831Ter)
 ClinVar
18g.53391751A>CCA402471972DCCc.2552A>C (p.Gln851Pro)
c.2257-5557A>C
c.2483A>C (p.Gln828Pro)
c.1457A>C (p.Gln486Pro)
c.1517A>C (p.Gln506Pro)
c.2492A>C (p.Gln831Pro)
18g.53391751A>GCA402471973DCCc.2552A>G (p.Gln851Arg)
c.2257-5557A>G
c.2483A>G (p.Gln828Arg)
c.1457A>G (p.Gln486Arg)
c.1517A>G (p.Gln506Arg)
c.2492A>G (p.Gln831Arg)
18g.53391751A>TCA402471974DCCc.2552A>T (p.Gln851Leu)
c.2257-5557A>T
c.2483A>T (p.Gln828Leu)
c.1457A>T (p.Gln486Leu)
c.1517A>T (p.Gln506Leu)
c.2492A>T (p.Gln831Leu)
18g.53391752G>ACA503875667DCCc.2553G>A (p.Gln851=)
c.2257-5556G>A
c.2484G>A (p.Gln828=)
c.1458G>A (p.Gln486=)
c.1518G>A (p.Gln506=)
c.2493G>A (p.Gln831=)
18g.53391752G>CCA402471975DCCc.2553G>C (p.Gln851His)
c.2257-5556G>C
c.2484G>C (p.Gln828His)
c.1458G>C (p.Gln486His)
c.1518G>C (p.Gln506His)
c.2493G>C (p.Gln831His)
18g.53391752G>TCA402471976DCCc.2553G>T (p.Gln851His)
c.2257-5556G>T
c.2484G>T (p.Gln828His)
c.1458G>T (p.Gln486His)
c.1518G>T (p.Gln506His)
c.2493G>T (p.Gln831His)
18g.53391753G>ACA8967226DCCc.2554G>A (p.Ala852Thr)
c.2257-5555G>A
c.2485G>A (p.Ala829Thr)
c.1459G>A (p.Ala487Thr)
c.1519G>A (p.Ala507Thr)
c.2494G>A (p.Ala832Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53391753G>CCA402471977DCCc.2554G>C (p.Ala852Pro)
c.2257-5555G>C
c.2485G>C (p.Ala829Pro)
c.1459G>C (p.Ala487Pro)
c.1519G>C (p.Ala507Pro)
c.2494G>C (p.Ala832Pro)
18g.53391753G=CA2304132159DCCc.2554G= (p.Ala852=)
c.2257-5555G=
c.2485G= (p.Ala829=)
c.1459G= (p.Ala487=)
c.1519G= (p.Ala507=)
c.2494G= (p.Ala832=)
18g.53391753G>TCA402471978DCCc.2554G>T (p.Ala852Ser)
c.2257-5555G>T
c.2485G>T (p.Ala829Ser)
c.1459G>T (p.Ala487Ser)
c.1519G>T (p.Ala507Ser)
c.2494G>T (p.Ala832Ser)
18g.53391754C>ACA402471979DCCc.2555C>A (p.Ala852Asp)
c.2257-5554C>A
c.2486C>A (p.Ala829Asp)
c.1460C>A (p.Ala487Asp)
c.1520C>A (p.Ala507Asp)
c.2495C>A (p.Ala832Asp)
18g.53391754C=CA2304132160DCCc.2555C= (p.Ala852=)
c.2257-5554C=
c.2486C= (p.Ala829=)
c.1460C= (p.Ala487=)
c.1520C= (p.Ala507=)
c.2495C= (p.Ala832=)
18g.53391754C>GCA402471980DCCc.2555C>G (p.Ala852Gly)
c.2257-5554C>G
c.2486C>G (p.Ala829Gly)
c.1460C>G (p.Ala487Gly)
c.1520C>G (p.Ala507Gly)
c.2495C>G (p.Ala832Gly)
18g.53391754C>TCA402471981DCCc.2555C>T (p.Ala852Val)
c.2257-5554C>T
c.2486C>T (p.Ala829Val)
c.1460C>T (p.Ala487Val)
c.1520C>T (p.Ala507Val)
c.2495C>T (p.Ala832Val)
 dbSNP
18g.53391755T>ACA503875681DCCc.2556T>A (p.Ala852=)
c.2257-5553T>A
c.2487T>A (p.Ala829=)
c.1461T>A (p.Ala487=)
c.1521T>A (p.Ala507=)
c.2496T>A (p.Ala832=)
18g.53391755T>CCA503875683DCCc.2556T>C (p.Ala852=)
c.2257-5553T>C
c.2487T>C (p.Ala829=)
c.1461T>C (p.Ala487=)
c.1521T>C (p.Ala507=)
c.2496T>C (p.Ala832=)
18g.53391755T>GCA503875686DCCc.2556T>G (p.Ala852=)
c.2257-5553T>G
c.2487T>G (p.Ala829=)
c.1461T>G (p.Ala487=)
c.1521T>G (p.Ala507=)
c.2496T>G (p.Ala832=)
18g.53391756G>ACA402471982DCCc.2557G>A (p.Val853Met)
c.2257-5552G>A
c.2488G>A (p.Val830Met)
c.1462G>A (p.Val488Met)
c.1522G>A (p.Val508Met)
c.2497G>A (p.Val833Met)
18g.53391756G>CCA402471983DCCc.2557G>C (p.Val853Leu)
c.2257-5552G>C
c.2488G>C (p.Val830Leu)
c.1462G>C (p.Val488Leu)
c.1522G>C (p.Val508Leu)
c.2497G>C (p.Val833Leu)
18g.53391756G>TCA402471984DCCc.2557G>T (p.Val853Leu)
c.2257-5552G>T
c.2488G>T (p.Val830Leu)
c.1462G>T (p.Val488Leu)
c.1522G>T (p.Val508Leu)
c.2497G>T (p.Val833Leu)
18g.53391757T>ACA402471985DCCc.2558T>A (p.Val853Glu)
c.2257-5551T>A
c.2489T>A (p.Val830Glu)
c.1463T>A (p.Val488Glu)
c.1523T>A (p.Val508Glu)
c.2498T>A (p.Val833Glu)
18g.53391757T>CCA402471986DCCc.2558T>C (p.Val853Ala)
c.2257-5551T>C
c.2489T>C (p.Val830Ala)
c.1463T>C (p.Val488Ala)
c.1523T>C (p.Val508Ala)
c.2498T>C (p.Val833Ala)
18g.53391757T>GCA402471987DCCc.2558T>G (p.Val853Gly)
c.2257-5551T>G
c.2489T>G (p.Val830Gly)
c.1463T>G (p.Val488Gly)
c.1523T>G (p.Val508Gly)
c.2498T>G (p.Val833Gly)
18g.53391758G>ACA503875693DCCc.2559G>A (p.Val853=)
c.2257-5550G>A
c.2490G>A (p.Val830=)
c.1464G>A (p.Val488=)
c.1524G>A (p.Val508=)
c.2499G>A (p.Val833=)
18g.53391758G>CCA503875694DCCc.2559G>C (p.Val853=)
c.2257-5550G>C
c.2490G>C (p.Val830=)
c.1464G>C (p.Val488=)
c.1524G>C (p.Val508=)
c.2499G>C (p.Val833=)
18g.53391758G>TCA503875697DCCc.2559G>T (p.Val853=)
c.2257-5550G>T
c.2490G>T (p.Val830=)
c.1464G>T (p.Val488=)
c.1524G>T (p.Val508=)
c.2499G>T (p.Val833=)
18g.53391759G>ACA402471988DCCc.2560G>A (p.Ala854Thr)
c.2257-5549G>A
c.2491G>A (p.Ala831Thr)
c.1465G>A (p.Ala489Thr)
c.1525G>A (p.Ala509Thr)
c.2500G>A (p.Ala834Thr)
18g.53391759G>CCA402471989DCCc.2560G>C (p.Ala854Pro)
c.2257-5549G>C
c.2491G>C (p.Ala831Pro)
c.1465G>C (p.Ala489Pro)
c.1525G>C (p.Ala509Pro)
c.2500G>C (p.Ala834Pro)
18g.53391759G>TCA402471990DCCc.2560G>T (p.Ala854Ser)
c.2257-5549G>T
c.2491G>T (p.Ala831Ser)
c.1465G>T (p.Ala489Ser)
c.1525G>T (p.Ala509Ser)
c.2500G>T (p.Ala834Ser)
18g.53391760C>ACA402471993DCCc.2561C>A (p.Ala854Asp)
c.2257-5548C>A
c.2492C>A (p.Ala831Asp)
c.1466C>A (p.Ala489Asp)
c.1526C>A (p.Ala509Asp)
c.2501C>A (p.Ala834Asp)
18g.53391760C>GCA402471992DCCc.2561C>G (p.Ala854Gly)
c.2257-5548C>G
c.2492C>G (p.Ala831Gly)
c.1466C>G (p.Ala489Gly)
c.1526C>G (p.Ala509Gly)
c.2501C>G (p.Ala834Gly)
18g.53391760C>TCA402471991DCCc.2561C>T (p.Ala854Val)
c.2257-5548C>T
c.2492C>T (p.Ala831Val)
c.1466C>T (p.Ala489Val)
c.1526C>T (p.Ala509Val)
c.2501C>T (p.Ala834Val)
18g.53391761T>ACA503875701DCCc.2562T>A (p.Ala854=)
c.2257-5547T>A
c.2493T>A (p.Ala831=)
c.1467T>A (p.Ala489=)
c.1527T>A (p.Ala509=)
c.2502T>A (p.Ala834=)
18g.53391761T>CCA503875702DCCc.2562T>C (p.Ala854=)
c.2257-5547T>C
c.2493T>C (p.Ala831=)
c.1467T>C (p.Ala489=)
c.1527T>C (p.Ala509=)
c.2502T>C (p.Ala834=)
18g.53391761T>GCA503875704DCCc.2562T>G (p.Ala854=)
c.2257-5547T>G
c.2493T>G (p.Ala831=)
c.1467T>G (p.Ala489=)
c.1527T>G (p.Ala509=)
c.2502T>G (p.Ala834=)
18g.53391762C>ACA402471996DCCc.2563C>A (p.Leu855Ile)
c.2257-5546C>A
c.2494C>A (p.Leu832Ile)
c.1468C>A (p.Leu490Ile)
c.1528C>A (p.Leu510Ile)
c.2503C>A (p.Leu835Ile)
18g.53391762C>GCA402471994DCCc.2563C>G (p.Leu855Val)
c.2257-5546C>G
c.2494C>G (p.Leu832Val)
c.1468C>G (p.Leu490Val)
c.1528C>G (p.Leu510Val)
c.2503C>G (p.Leu835Val)
18g.53391762C>TCA402471995DCCc.2563C>T (p.Leu855Phe)
c.2257-5546C>T
c.2494C>T (p.Leu832Phe)
c.1468C>T (p.Leu490Phe)
c.1528C>T (p.Leu510Phe)
c.2503C>T (p.Leu835Phe)
18g.53391763T>ACA402471997DCCc.2564T>A (p.Leu855His)
c.2257-5545T>A
c.2495T>A (p.Leu832His)
c.1469T>A (p.Leu490His)
c.1529T>A (p.Leu510His)
c.2504T>A (p.Leu835His)
18g.53391763T>CCA402471998DCCc.2564T>C (p.Leu855Pro)
c.2257-5545T>C
c.2495T>C (p.Leu832Pro)
c.1469T>C (p.Leu490Pro)
c.1529T>C (p.Leu510Pro)
c.2504T>C (p.Leu835Pro)
18g.53391763T>GCA402471999DCCc.2564T>G (p.Leu855Arg)
c.2257-5545T>G
c.2495T>G (p.Leu832Arg)
c.1469T>G (p.Leu490Arg)
c.1529T>G (p.Leu510Arg)
c.2504T>G (p.Leu835Arg)
18g.53391764T>ACA503875714DCCc.2565T>A (p.Leu855=)
c.2257-5544T>A
c.2496T>A (p.Leu832=)
c.1470T>A (p.Leu490=)
c.1530T>A (p.Leu510=)
c.2505T>A (p.Leu835=)
18g.53391764T>CCA503875717DCCc.2565T>C (p.Leu855=)
c.2257-5544T>C
c.2496T>C (p.Leu832=)
c.1470T>C (p.Leu490=)
c.1530T>C (p.Leu510=)
c.2505T>C (p.Leu835=)
18g.53391764T>GCA503875719DCCc.2565T>G (p.Leu855=)
c.2257-5544T>G
c.2496T>G (p.Leu832=)
c.1470T>G (p.Leu490=)
c.1530T>G (p.Leu510=)
c.2505T>G (p.Leu835=)
18g.53391765A>CCA402472000DCCc.2566A>C (p.Thr856Pro)
c.2257-5543A>C
c.2497A>C (p.Thr833Pro)
c.1471A>C (p.Thr491Pro)
c.1531A>C (p.Thr511Pro)
c.2506A>C (p.Thr836Pro)
18g.53391765A>GCA402472001DCCc.2566A>G (p.Thr856Ala)
c.2257-5543A>G
c.2497A>G (p.Thr833Ala)
c.1471A>G (p.Thr491Ala)
c.1531A>G (p.Thr511Ala)
c.2506A>G (p.Thr836Ala)
18g.53391765A>TCA402472002DCCc.2566A>T (p.Thr856Ser)
c.2257-5543A>T
c.2497A>T (p.Thr833Ser)
c.1471A>T (p.Thr491Ser)
c.1531A>T (p.Thr511Ser)
c.2506A>T (p.Thr836Ser)
18g.53391766C>ACA402472003DCCc.2567C>A (p.Thr856Asn)
c.2257-5542C>A
c.2498C>A (p.Thr833Asn)
c.1472C>A (p.Thr491Asn)
c.1532C>A (p.Thr511Asn)
c.2507C>A (p.Thr836Asn)
 gnomAD v4
18g.53391766C>GCA402472004DCCc.2567C>G (p.Thr856Ser)
c.2257-5542C>G
c.2498C>G (p.Thr833Ser)
c.1472C>G (p.Thr491Ser)
c.1532C>G (p.Thr511Ser)
c.2507C>G (p.Thr836Ser)
18g.53391766C>TCA402472005DCCc.2567C>T (p.Thr856Ile)
c.2257-5542C>T
c.2498C>T (p.Thr833Ile)
c.1472C>T (p.Thr491Ile)
c.1532C>T (p.Thr511Ile)
c.2507C>T (p.Thr836Ile)
 gnomAD v4
18g.53391767C>ACA503875735DCCc.2568C>A (p.Thr856=)
c.2257-5541C>A
c.2499C>A (p.Thr833=)
c.1473C>A (p.Thr491=)
c.1533C>A (p.Thr511=)
c.2508C>A (p.Thr836=)
18g.53391767C=CA2304132161DCCc.2568C= (p.Thr856=)
c.2257-5541C=
c.2499C= (p.Thr833=)
c.1473C= (p.Thr491=)
c.1533C= (p.Thr511=)
c.2508C= (p.Thr836=)
18g.53391767C>GCA8967227DCCc.2568C>G (p.Thr856=)
c.2257-5541C>G
c.2499C>G (p.Thr833=)
c.1473C>G (p.Thr491=)
c.1533C>G (p.Thr511=)
c.2508C>G (p.Thr836=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391767C>TCA503875729DCCc.2568C>T (p.Thr856=)
c.2257-5541C>T
c.2499C>T (p.Thr833=)
c.1473C>T (p.Thr491=)
c.1533C>T (p.Thr511=)
c.2508C>T (p.Thr836=)
 dbSNP
18g.53391768C>ACA402472008DCCc.2569C>A (p.His857Asn)
c.2257-5540C>A
c.2500C>A (p.His834Asn)
c.1474C>A (p.His492Asn)
c.1534C>A (p.His512Asn)
c.2509C>A (p.His837Asn)
18g.53391768C=CA2304132162DCCc.2569C= (p.His857=)
c.2257-5540C=
c.2500C= (p.His834=)
c.1474C= (p.His492=)
c.1534C= (p.His512=)
c.2509C= (p.His837=)
18g.53391768C>GCA402472007DCCc.2569C>G (p.His857Asp)
c.2257-5540C>G
c.2500C>G (p.His834Asp)
c.1474C>G (p.His492Asp)
c.1534C>G (p.His512Asp)
c.2509C>G (p.His837Asp)
18g.53391768C>TCA402472006DCCc.2569C>T (p.His857Tyr)
c.2257-5540C>T
c.2500C>T (p.His834Tyr)
c.1474C>T (p.His492Tyr)
c.1534C>T (p.His512Tyr)
c.2509C>T (p.His837Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.53391769A=CA2304132163DCCc.2570A= (p.His857=)
c.2257-5539A=
c.2501A= (p.His834=)
c.1475A= (p.His492=)
c.1535A= (p.His512=)
c.2510A= (p.His837=)
18g.53391769A>CCA402472009DCCc.2570A>C (p.His857Pro)
c.2257-5539A>C
c.2501A>C (p.His834Pro)
c.1475A>C (p.His492Pro)
c.1535A>C (p.His512Pro)
c.2510A>C (p.His837Pro)
18g.53391769A>GCA300692985DCCc.2570A>G (p.His857Arg)
c.2257-5539A>G
c.2501A>G (p.His834Arg)
c.1475A>G (p.His492Arg)
c.1535A>G (p.His512Arg)
c.2510A>G (p.His837Arg)
 dbSNP
18g.53391769A>TCA402472010DCCc.2570A>T (p.His857Leu)
c.2257-5539A>T
c.2501A>T (p.His834Leu)
c.1475A>T (p.His492Leu)
c.1535A>T (p.His512Leu)
c.2510A>T (p.His837Leu)
18g.53391770T>ACA402472011DCCc.2571T>A (p.His857Gln)
c.2257-5538T>A
c.2502T>A (p.His834Gln)
c.1476T>A (p.His492Gln)
c.1536T>A (p.His512Gln)
c.2511T>A (p.His837Gln)
18g.53391770T>CCA503875748DCCc.2571T>C (p.His857=)
c.2257-5538T>C
c.2502T>C (p.His834=)
c.1476T>C (p.His492=)
c.1536T>C (p.His512=)
c.2511T>C (p.His837=)
18g.53391770T>GCA402472012DCCc.2571T>G (p.His857Gln)
c.2257-5538T>G
c.2502T>G (p.His834Gln)
c.1476T>G (p.His492Gln)
c.1536T>G (p.His512Gln)
c.2511T>G (p.His837Gln)
18g.53391771G>ACA402472013DCCc.2572G>A (p.Asp858Asn)
c.2257-5537G>A
c.2503G>A (p.Asp835Asn)
c.1477G>A (p.Asp493Asn)
c.1537G>A (p.Asp513Asn)
c.2512G>A (p.Asp838Asn)
 dbSNP
18g.53391771G>CCA402472014DCCc.2572G>C (p.Asp858His)
c.2257-5537G>C
c.2503G>C (p.Asp835His)
c.1477G>C (p.Asp493His)
c.1537G>C (p.Asp513His)
c.2512G>C (p.Asp838His)
18g.53391771G=CA2304132164DCCc.2572G= (p.Asp858=)
c.2257-5537G=
c.2503G= (p.Asp835=)
c.1477G= (p.Asp493=)
c.1537G= (p.Asp513=)
c.2512G= (p.Asp838=)
18g.53391771G>TCA402472015DCCc.2572G>T (p.Asp858Tyr)
c.2257-5537G>T
c.2503G>T (p.Asp835Tyr)
c.1477G>T (p.Asp493Tyr)
c.1537G>T (p.Asp513Tyr)
c.2512G>T (p.Asp838Tyr)
18g.53391772A>CCA402472016DCCc.2573A>C (p.Asp858Ala)
c.2257-5536A>C
c.2504A>C (p.Asp835Ala)
c.1478A>C (p.Asp493Ala)
c.1538A>C (p.Asp513Ala)
c.2513A>C (p.Asp838Ala)
18g.53391772A>GCA402472017DCCc.2573A>G (p.Asp858Gly)
c.2257-5536A>G
c.2504A>G (p.Asp835Gly)
c.1478A>G (p.Asp493Gly)
c.1538A>G (p.Asp513Gly)
c.2513A>G (p.Asp838Gly)
 gnomAD v4
18g.53391772A>TCA402472018DCCc.2573A>T (p.Asp858Val)
c.2257-5536A>T
c.2504A>T (p.Asp835Val)
c.1478A>T (p.Asp493Val)
c.1538A>T (p.Asp513Val)
c.2513A>T (p.Asp838Val)
18g.53391773T>ACA402472019DCCc.2574T>A (p.Asp858Glu)
c.2257-5535T>A
c.2505T>A (p.Asp835Glu)
c.1479T>A (p.Asp493Glu)
c.1539T>A (p.Asp513Glu)
c.2514T>A (p.Asp838Glu)
18g.53391773T>CCA503875761DCCc.2574T>C (p.Asp858=)
c.2257-5535T>C
c.2505T>C (p.Asp835=)
c.1479T>C (p.Asp493=)
c.1539T>C (p.Asp513=)
c.2514T>C (p.Asp838=)
 gnomAD v4
18g.53391773T>GCA402472020DCCc.2574T>G (p.Asp858Glu)
c.2257-5535T>G
c.2505T>G (p.Asp835Glu)
c.1479T>G (p.Asp493Glu)
c.1539T>G (p.Asp513Glu)
c.2514T>G (p.Asp838Glu)
 dbSNP
18g.53391773T=CA2304132165DCCc.2574T= (p.Asp858=)
c.2257-5535T=
c.2505T= (p.Asp835=)
c.1479T= (p.Asp493=)
c.1539T= (p.Asp513=)
c.2514T= (p.Asp838=)
18g.53391774G>ACA402472022DCCc.2575G>A (p.Ala859Thr)
c.2257-5534G>A
c.2506G>A (p.Ala836Thr)
c.1480G>A (p.Ala494Thr)
c.1540G>A (p.Ala514Thr)
c.2515G>A (p.Ala839Thr)
18g.53391774G>CCA402472023DCCc.2575G>C (p.Ala859Pro)
c.2257-5534G>C
c.2506G>C (p.Ala836Pro)
c.1480G>C (p.Ala494Pro)
c.1540G>C (p.Ala514Pro)
c.2515G>C (p.Ala839Pro)
18g.53391774G>TCA402472021DCCc.2575G>T (p.Ala859Ser)
c.2257-5534G>T
c.2506G>T (p.Ala836Ser)
c.1480G>T (p.Ala494Ser)
c.1540G>T (p.Ala514Ser)
c.2515G>T (p.Ala839Ser)
18g.53391775C>ACA402472024DCCc.2576C>A (p.Ala859Asp)
c.2257-5533C>A
c.2507C>A (p.Ala836Asp)
c.1481C>A (p.Ala494Asp)
c.1541C>A (p.Ala514Asp)
c.2516C>A (p.Ala839Asp)
18g.53391775C=CA2304132166DCCc.2576C= (p.Ala859=)
c.2257-5533C=
c.2507C= (p.Ala836=)
c.1481C= (p.Ala494=)
c.1541C= (p.Ala514=)
c.2516C= (p.Ala839=)
18g.53391775C>GCA402472025DCCc.2576C>G (p.Ala859Gly)
c.2257-5533C>G
c.2507C>G (p.Ala836Gly)
c.1481C>G (p.Ala494Gly)
c.1541C>G (p.Ala514Gly)
c.2516C>G (p.Ala839Gly)
18g.53391775C>TCA8967228DCCc.2576C>T (p.Ala859Val)
c.2257-5533C>T
c.2507C>T (p.Ala836Val)
c.1481C>T (p.Ala494Val)
c.1541C>T (p.Ala514Val)
c.2516C>T (p.Ala839Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391776T>ACA503875771DCCc.2577T>A (p.Ala859=)
c.2257-5532T>A
c.2508T>A (p.Ala836=)
c.1482T>A (p.Ala494=)
c.1542T>A (p.Ala514=)
c.2517T>A (p.Ala839=)
18g.53391776T>CCA503875773DCCc.2577T>C (p.Ala859=)
c.2257-5532T>C
c.2508T>C (p.Ala836=)
c.1482T>C (p.Ala494=)
c.1542T>C (p.Ala514=)
c.2517T>C (p.Ala839=)
18g.53391776T>GCA503875776DCCc.2577T>G (p.Ala859=)
c.2257-5532T>G
c.2508T>G (p.Ala836=)
c.1482T>G (p.Ala494=)
c.1542T>G (p.Ala514=)
c.2517T>G (p.Ala839=)
18g.53391777G>ACA402472026DCCc.2578G>A (p.Val860Met)
c.2257-5531G>A
c.2509G>A (p.Val837Met)
c.1483G>A (p.Val495Met)
c.1543G>A (p.Val515Met)
c.2518G>A (p.Val840Met)
 dbSNP gnomAD v3 gnomAD v4
18g.53391777G>CCA402472027DCCc.2578G>C (p.Val860Leu)
c.2257-5531G>C
c.2509G>C (p.Val837Leu)
c.1483G>C (p.Val495Leu)
c.1543G>C (p.Val515Leu)
c.2518G>C (p.Val840Leu)
18g.53391777G=CA2304132167DCCc.2578G= (p.Val860=)
c.2257-5531G=
c.2509G= (p.Val837=)
c.1483G= (p.Val495=)
c.1543G= (p.Val515=)
c.2518G= (p.Val840=)
18g.53391777G>TCA402472028DCCc.2578G>T (p.Val860Leu)
c.2257-5531G>T
c.2509G>T (p.Val837Leu)
c.1483G>T (p.Val495Leu)
c.1543G>T (p.Val515Leu)
c.2518G>T (p.Val840Leu)
18g.53391778T>ACA402472029DCCc.2579T>A (p.Val860Glu)
c.2257-5530T>A
c.2510T>A (p.Val837Glu)
c.1484T>A (p.Val495Glu)
c.1544T>A (p.Val515Glu)
c.2519T>A (p.Val840Glu)
18g.53391778T>CCA8967229DCCc.2579T>C (p.Val860Ala)
c.2257-5530T>C
c.2510T>C (p.Val837Ala)
c.1484T>C (p.Val495Ala)
c.1544T>C (p.Val515Ala)
c.2519T>C (p.Val840Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53391778T>GCA402472030DCCc.2579T>G (p.Val860Gly)
c.2257-5530T>G
c.2510T>G (p.Val837Gly)
c.1484T>G (p.Val495Gly)
c.1544T>G (p.Val515Gly)
c.2519T>G (p.Val840Gly)
18g.53391778T=CA2304132168DCCc.2579T= (p.Val860=)
c.2257-5530T=
c.2510T= (p.Val837=)
c.1484T= (p.Val495=)
c.1544T= (p.Val515=)
c.2519T= (p.Val840=)
18g.53391779G>ACA503875787DCCc.2580G>A (p.Val860=)
c.2257-5529G>A
c.2511G>A (p.Val837=)
c.1485G>A (p.Val495=)
c.1545G>A (p.Val515=)
c.2520G>A (p.Val840=)
18g.53391779G>CCA503875789DCCc.2580G>C (p.Val860=)
c.2257-5529G>C
c.2511G>C (p.Val837=)
c.1485G>C (p.Val495=)
c.1545G>C (p.Val515=)
c.2520G>C (p.Val840=)
18g.53391779G>TCA503875790DCCc.2580G>T (p.Val860=)
c.2257-5529G>T
c.2511G>T (p.Val837=)
c.1485G>T (p.Val495=)
c.1545G>T (p.Val515=)
c.2520G>T (p.Val840=)
18g.53391780A>CCA503875792DCCc.2581A>C (p.Arg861=)
c.2257-5528A>C
c.2512A>C (p.Arg838=)
c.1486A>C (p.Arg496=)
c.1546A>C (p.Arg516=)
c.2521A>C (p.Arg841=)
18g.53391780A>GCA402472031DCCc.2581A>G (p.Arg861Gly)
c.2257-5528A>G
c.2512A>G (p.Arg838Gly)
c.1486A>G (p.Arg496Gly)
c.1546A>G (p.Arg516Gly)
c.2521A>G (p.Arg841Gly)
18g.53391780A>TCA402472032DCCc.2581A>T (p.Arg861Trp)
c.2257-5528A>T
c.2512A>T (p.Arg838Trp)
c.1486A>T (p.Arg496Trp)
c.1546A>T (p.Arg516Trp)
c.2521A>T (p.Arg841Trp)
18g.53391781G>ACA402472033DCCc.2582G>A (p.Arg861Lys)
c.2257-5527G>A
c.2513G>A (p.Arg838Lys)
c.1487G>A (p.Arg496Lys)
c.1547G>A (p.Arg516Lys)
c.2522G>A (p.Arg841Lys)
18g.53391781G>CCA402472034DCCc.2582G>C (p.Arg861Thr)
c.2257-5527G>C
c.2513G>C (p.Arg838Thr)
c.1487G>C (p.Arg496Thr)
c.1547G>C (p.Arg516Thr)
c.2522G>C (p.Arg841Thr)
 gnomAD v4
18g.53391781G>TCA402472035DCCc.2582G>T (p.Arg861Met)
c.2257-5527G>T
c.2513G>T (p.Arg838Met)
c.1487G>T (p.Arg496Met)
c.1547G>T (p.Arg516Met)
c.2522G>T (p.Arg841Met)
18g.53391782G>ACA503875798DCCc.2583G>A (p.Arg861=)
c.2257-5526G>A
c.2514G>A (p.Arg838=)
c.1488G>A (p.Arg496=)
c.1548G>A (p.Arg516=)
c.2523G>A (p.Arg841=)
 COSMIC COSMIC
18g.53391782G>CCA402472037DCCc.2583G>C (p.Arg861Ser)
c.2257-5526G>C
c.2514G>C (p.Arg838Ser)
c.1488G>C (p.Arg496Ser)
c.1548G>C (p.Arg516Ser)
c.2523G>C (p.Arg841Ser)
 dbSNP
18g.53391782G=CA2304132169DCCc.2583G= (p.Arg861=)
c.2257-5526G=
c.2514G= (p.Arg838=)
c.1488G= (p.Arg496=)
c.1548G= (p.Arg516=)
c.2523G= (p.Arg841=)
18g.53391782G>TCA402472036DCCc.2583G>T (p.Arg861Ser)
c.2257-5526G>T
c.2514G>T (p.Arg838Ser)
c.1488G>T (p.Arg496Ser)
c.1548G>T (p.Arg516Ser)
c.2523G>T (p.Arg841Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.53391783G>ACA402472038DCCc.2584G>A (p.Val862Ile)
c.2257-5525G>A
c.2515G>A (p.Val839Ile)
c.1489G>A (p.Val497Ile)
c.1549G>A (p.Val517Ile)
c.2524G>A (p.Val842Ile)
 gnomAD v4
18g.53391783G>CCA402472039DCCc.2584G>C (p.Val862Leu)
c.2257-5525G>C
c.2515G>C (p.Val839Leu)
c.1489G>C (p.Val497Leu)
c.1549G>C (p.Val517Leu)
c.2524G>C (p.Val842Leu)
18g.53391783G>TCA402472040DCCc.2584G>T (p.Val862Phe)
c.2257-5525G>T
c.2515G>T (p.Val839Phe)
c.1489G>T (p.Val497Phe)
c.1549G>T (p.Val517Phe)
c.2524G>T (p.Val842Phe)
18g.53391784T>ACA402472041DCCc.2585T>A (p.Val862Asp)
c.2257-5524T>A
c.2516T>A (p.Val839Asp)
c.1T>A
c.1490T>A (p.Val497Asp)
c.1550T>A (p.Val517Asp)
c.2525T>A (p.Val842Asp)
18g.53391784T>CCA402472042DCCc.2585T>C (p.Val862Ala)
c.2257-5524T>C
c.2516T>C (p.Val839Ala)
c.1T>C
c.1490T>C (p.Val497Ala)
c.1550T>C (p.Val517Ala)
c.2525T>C (p.Val842Ala)
18g.53391784T>GCA402472043DCCc.2585T>G (p.Val862Gly)
c.2257-5524T>G
c.2516T>G (p.Val839Gly)
c.1T>G
c.1490T>G (p.Val497Gly)
c.1550T>G (p.Val517Gly)
c.2525T>G (p.Val842Gly)
18g.53391784_53391789delCA2576506862DCCc.2585_2590del (p.Val862_Trp864delinsGly)
c.2257-5524_2257-5519del
c.2516_2521del (p.Val839_Trp841delinsGly)
c.1_6del
c.1490_1495del (p.Val497_Trp499delinsGly)
c.1550_1555del (p.Val517_Trp519delinsGly)
c.2525_2530del (p.Val842_Trp844delinsGly)
 gnomAD v4

Number of alleles fetched