Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135789555C=CA1290822653LCTc.5563+16G= (n.5563+16G=)
2g.135789555C>GCA2661273558LCTc.5563+16G>C (n.5563+16G>C)
gnomAD v4
2g.135789555C>TCA1290822654LCTc.5563+16G>A (n.5563+16G>A)
dbSNP
2g.135789556_135789560delCA2577107636LCTc.5563+12_5563+16del (n.5563+12_5563+16del)
2g.135789556A>GCA2577107637LCTc.5563+15T>C (n.5563+15T>C)
2g.135789558A=CA1290822655LCTc.5563+13T= (n.5563+13T=)
2g.135789558A>GCA1887598LCTc.5563+13T>C (n.5563+13T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789559G>ACA2661273559LCTc.5563+12C>T (n.5563+12C>T)
gnomAD v4
2g.135789559G>TCA2661273560LCTc.5563+12C>A (n.5563+12C>A)
gnomAD v4
2g.135789560C>ACA2661273561LCTc.5563+11G>T (n.5563+11G>T)
gnomAD v4
2g.135789561delCA2577107639LCTc.5563+11del (n.5563+11del)
2g.135789562A=CA1290822656LCTc.5563+9T= (n.5563+9T=)
2g.135789562A>TCA1036793515LCTc.5563+9T>A (n.5563+9T>A)
dbSNP gnomAD v3 gnomAD v4
2g.135789564A=CA1290822657LCTc.5563+7T= (n.5563+7T=)
2g.135789564A>GCA1139657216LCTc.5563+7T>C (n.5563+7T>C)
ClinVar dbSNP gnomAD v4
2g.135789565T>ACA1887599LCTc.5563+6A>T (n.5563+6A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789565T>CCA2661273562LCTc.5563+6A>G (n.5563+6A>G)
gnomAD v4
2g.135789565T=CA1290822658LCTc.5563+6A= (n.5563+6A=)
2g.135789567_135789568dupCA2661273563LCTc.5563+5_5563+6dup (n.5563+5_5563+6dup)
gnomAD v4
2g.135789568C>TCA2661273564LCTc.5563+3G>A (n.5563+3G>A)
gnomAD v4
2g.135789569A=CA1290822659LCTc.5563+2T= (n.5563+2T=)
2g.135789569A>CCA348585816LCTc.5563+2T>G (n.5563+2T>G)
dbSNP
2g.135789569A>GCA348585814LCTc.5563+2T>C (n.5563+2T>C)
2g.135789569A>TCA348585812LCTc.5563+2T>A (n.5563+2T>A)
2g.135789570C>ACA348585818LCTc.5563+1G>T (n.5563+1G>T)
2g.135789570C>GCA348585821LCTc.5563+1G>C (n.5563+1G>C)
2g.135789570C>TCA348585823LCTc.5563+1G>A (n.5563+1G>A)
2g.135789571C>ACA348585827LCTc.5563G>T (p.Asp1855Tyr)
2g.135789571C>GCA348585829LCTc.5563G>C (p.Asp1855His)
2g.135789571C>TCA348585831LCTc.5563G>A (p.Asp1855Asn)
2g.135789572T>ACA429084926LCTc.5562A>T (p.Pro1854=)
2g.135789572T>CCA429084928LCTc.5562A>G (p.Pro1854=)
gnomAD v4
2g.135789572T>GCA429084927LCTc.5562A>C (p.Pro1854=)
2g.135789573G>ACA348585835LCTc.5561C>T (p.Pro1854Leu)
2g.135789573G>CCA348585837LCTc.5561C>G (p.Pro1854Arg)
2g.135789573G>TCA348585839LCTc.5561C>A (p.Pro1854Gln)
2g.135789573_135789574delinsTTCA645528830LCTc.5560_5561delinsAA (p.Pro1854Lys)
COSMIC
2g.135789574G>ACA348585842LCTc.5560C>T (p.Pro1854Ser)
2g.135789574G>CCA348585845LCTc.5560C>G (p.Pro1854Ala)
2g.135789574G>TCA348585847LCTc.5560C>A (p.Pro1854Thr)
gnomAD v4
2g.135789575C>ACA348585849LCTc.5559G>T (p.Gln1853His)
2g.135789575C>GCA348585852LCTc.5559G>C (p.Gln1853His)
2g.135789575C>TCA429084934LCTc.5559G>A (p.Gln1853=)
COSMIC
2g.135789576T>ACA348585860LCTc.5558A>T (p.Gln1853Leu)
2g.135789576T>CCA348585858LCTc.5558A>G (p.Gln1853Arg)
2g.135789576T>GCA348585855LCTc.5558A>C (p.Gln1853Pro)
2g.135789577G>ACA348585862LCTc.5557C>T (p.Gln1853Ter)
gnomAD v4
2g.135789577G>CCA348585865LCTc.5557C>G (p.Gln1853Glu)
2g.135789577G>TCA348585868LCTc.5557C>A (p.Gln1853Lys)
2g.135789578G>ACA429084938LCTc.5556C>T (p.His1852=)
2g.135789578G>CCA348585872LCTc.5556C>G (p.His1852Gln)
2g.135789578G>TCA348585874LCTc.5556C>A (p.His1852Gln)
2g.135789579T>ACA348585881LCTc.5555A>T (p.His1852Leu)
2g.135789579T>CCA348585879LCTc.5555A>G (p.His1852Arg)
dbSNP
2g.135789579T>GCA348585877LCTc.5555A>C (p.His1852Pro)
gnomAD v4
2g.135789580G>ACA348585885LCTc.5554C>T (p.His1852Tyr)
gnomAD v4
2g.135789580G>CCA348585887LCTc.5554C>G (p.His1852Asp)
2g.135789580G>TCA348585888LCTc.5554C>A (p.His1852Asn)
2g.135789581G>ACA429084947LCTc.5553C>T (p.Leu1851=)
gnomAD v4 COSMIC
2g.135789581G>CCA429084945LCTc.5553C>G (p.Leu1851=)
2g.135789581G>TCA429084946LCTc.5553C>A (p.Leu1851=)
2g.135789582A>CCA348585890LCTc.5552T>G (p.Leu1851Arg)
2g.135789582A>GCA348585893LCTc.5552T>C (p.Leu1851Pro)
2g.135789582A>TCA348585895LCTc.5552T>A (p.Leu1851His)
2g.135789583G>ACA348585899LCTc.5551C>T (p.Leu1851Phe)
2g.135789583G>CCA348585904LCTc.5551C>G (p.Leu1851Val)
2g.135789583G>TCA348585901LCTc.5551C>A (p.Leu1851Ile)
2g.135789584A>CCA348585907LCTc.5550T>G (p.Cys1850Trp)
2g.135789584A>GCA429084952LCTc.5550T>C (p.Cys1850=)
2g.135789584A>TCA348585910LCTc.5550T>A (p.Cys1850Ter)
2g.135789585C>ACA348585914LCTc.5549G>T (p.Cys1850Phe)
2g.135789585C>GCA348585916LCTc.5549G>C (p.Cys1850Ser)
2g.135789585C>TCA348585919LCTc.5549G>A (p.Cys1850Tyr)
2g.135789586A>CCA348585922LCTc.5548T>G (p.Cys1850Gly)
2g.135789586A>GCA348585925LCTc.5548T>C (p.Cys1850Arg)
2g.135789586A>TCA348585927LCTc.5548T>A (p.Cys1850Ser)
2g.135789587A=CA1290822660LCTc.5547T= (p.Ala1849=)
2g.135789587A>CCA429084959LCTc.5547T>G (p.Ala1849=)
2g.135789587A>GCA429084954LCTc.5547T>C (p.Ala1849=)
dbSNP
2g.135789587A>TCA429084957LCTc.5547T>A (p.Ala1849=)
2g.135789588G>ACA348585931LCTc.5546C>T (p.Ala1849Val)
2g.135789588G>CCA348585933LCTc.5546C>G (p.Ala1849Gly)
2g.135789588G>TCA348585936LCTc.5546C>A (p.Ala1849Asp)
2g.135789589C>ACA348585939LCTc.5545G>T (p.Ala1849Ser)
2g.135789589C=CA1290822661LCTc.5545G= (p.Ala1849=)
2g.135789589C>GCA348585944LCTc.5545G>C (p.Ala1849Pro)
gnomAD v4
2g.135789589C>TCA348585941LCTc.5545G>A (p.Ala1849Thr)
dbSNP gnomAD v2 gnomAD v4
2g.135789590G>ACA1887600LCTc.5544C>T (p.His1848=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135789590G>CCA348585952LCTc.5544C>G (p.His1848Gln)
2g.135789590G=CA1290822662LCTc.5544C= (p.His1848=)
2g.135789590G>TCA348585949LCTc.5544C>A (p.His1848Gln)
2g.135789591T>ACA348585956LCTc.5543A>T (p.His1848Leu)
2g.135789591T>CCA348585958LCTc.5543A>G (p.His1848Arg)
dbSNP gnomAD v4
2g.135789591T>GCA348585960LCTc.5543A>C (p.His1848Pro)
2g.135789591T=CA1290822663LCTc.5543A= (p.His1848=)
2g.135789592G>ACA348585964LCTc.5542C>T (p.His1848Tyr)
2g.135789592G>CCA348585966LCTc.5542C>G (p.His1848Asp)
2g.135789592G>TCA348585968LCTc.5542C>A (p.His1848Asn)
2g.135789593A>CCA429084969LCTc.5541T>G (p.Pro1847=)
2g.135789593A>GCA429084970LCTc.5541T>C (p.Pro1847=)
2g.135789593A>TCA429084973LCTc.5541T>A (p.Pro1847=)
2g.135789594G>ACA348585970LCTc.5540C>T (p.Pro1847Leu)
2g.135789594G>CCA348585972LCTc.5540C>G (p.Pro1847Arg)
2g.135789594G>TCA348585974LCTc.5540C>A (p.Pro1847His)
2g.135789595G>ACA348585977LCTc.5539C>T (p.Pro1847Ser)
2g.135789595G>CCA348585980LCTc.5539C>G (p.Pro1847Ala)
2g.135789595G>TCA348585982LCTc.5539C>A (p.Pro1847Thr)
2g.135789596C>ACA429084979LCTc.5538G>T (p.Gly1846=)
gnomAD v4
2g.135789596C>GCA429084978LCTc.5538G>C (p.Gly1846=)
2g.135789596C>TCA429084976LCTc.5538G>A (p.Gly1846=)
gnomAD v4
2g.135789597C>ACA348585986LCTc.5537G>T (p.Gly1846Val)
2g.135789597C=CA1290822664LCTc.5537G= (p.Gly1846=)
2g.135789597C>GCA348585990LCTc.5537G>C (p.Gly1846Ala)
2g.135789597C>TCA1887601LCTc.5537G>A (p.Gly1846Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789598C>ACA348585992LCTc.5536G>T (p.Gly1846Trp)
2g.135789598C>GCA348585993LCTc.5536G>C (p.Gly1846Arg)
2g.135789598C>TCA348585994LCTc.5536G>A (p.Gly1846Arg)
2g.135789599T>ACA429084981LCTc.5535A>T (p.Thr1845=)
2g.135789599T>CCA429084982LCTc.5535A>G (p.Thr1845=)
gnomAD v4
2g.135789599T>GCA429084983LCTc.5535A>C (p.Thr1845=)
2g.135789600G>ACA348585995LCTc.5534C>T (p.Thr1845Ile)
gnomAD v4
2g.135789600G>CCA348585996LCTc.5534C>G (p.Thr1845Arg)
2g.135789600G>TCA348585997LCTc.5534C>A (p.Thr1845Lys)
2g.135789601T>ACA348585998LCTc.5533A>T (p.Thr1845Ser)
2g.135789601T>CCA348585999LCTc.5533A>G (p.Thr1845Ala)
2g.135789601T>GCA348586000LCTc.5533A>C (p.Thr1845Pro)
2g.135789602A=CA1290822665LCTc.5532T= (p.Ala1844=)
2g.135789602A>CCA429084990LCTc.5532T>G (p.Ala1844=)
2g.135789602A>GCA56594950LCTc.5532T>C (p.Ala1844=)
dbSNP
2g.135789602A>TCA429084991LCTc.5532T>A (p.Ala1844=)
2g.135789603G>ACA348586002LCTc.5531C>T (p.Ala1844Val)
2g.135789603G>CCA348586003LCTc.5531C>G (p.Ala1844Gly)
2g.135789603G>TCA348586001LCTc.5531C>A (p.Ala1844Asp)
2g.135789604C>ACA348586004LCTc.5530G>T (p.Ala1844Ser)
2g.135789604C=CA1290822666LCTc.5530G= (p.Ala1844=)
2g.135789604C>GCA348586005LCTc.5530G>C (p.Ala1844Pro)
2g.135789604C>TCA348586007LCTc.5530G>A (p.Ala1844Thr)
dbSNP gnomAD v2 gnomAD v4
2g.135789605G>ACA1887602LCTc.5529C>T (p.Pro1843=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789605G>CCA429084995LCTc.5529C>G (p.Pro1843=)
2g.135789605G=CA1290822667LCTc.5529C= (p.Pro1843=)
2g.135789605G>TCA429084996LCTc.5529C>A (p.Pro1843=)
2g.135789606G>ACA348586011LCTc.5528C>T (p.Pro1843Leu)
2g.135789606G>CCA348586013LCTc.5528C>G (p.Pro1843Arg)
2g.135789606G>TCA348586016LCTc.5528C>A (p.Pro1843His)
dbSNP
2g.135789607G>ACA348586019LCTc.5527C>T (p.Pro1843Ser)
2g.135789607G>CCA348586022LCTc.5527C>G (p.Pro1843Ala)
2g.135789607G>TCA348586025LCTc.5527C>A (p.Pro1843Thr)
2g.135789608G>ACA429084999LCTc.5526C>T (p.Asp1842=)
2g.135789608G>CCA348586029LCTc.5526C>G (p.Asp1842Glu)
2g.135789608G>TCA348586031LCTc.5526C>A (p.Asp1842Glu)
2g.135789609T>ACA348586036LCTc.5525A>T (p.Asp1842Val)
2g.135789609T>CCA348586038LCTc.5525A>G (p.Asp1842Gly)
2g.135789609T>GCA1887603LCTc.5525A>C (p.Asp1842Ala)
dbSNP ExAC gnomAD v2
2g.135789609T=CA1290822668LCTc.5525A= (p.Asp1842=)
2g.135789610C>ACA348586041LCTc.5524G>T (p.Asp1842Tyr)
2g.135789610C>GCA348586044LCTc.5524G>C (p.Asp1842His)
2g.135789610C>TCA348586046LCTc.5524G>A (p.Asp1842Asn)
2g.135789611A>CCA429085003LCTc.5523T>G (p.Pro1841=)
2g.135789611A>GCA429085004LCTc.5523T>C (p.Pro1841=)
2g.135789611A>TCA429085005LCTc.5523T>A (p.Pro1841=)
2g.135789612G>ACA348586050LCTc.5522C>T (p.Pro1841Leu)
2g.135789612G>CCA348586052LCTc.5522C>G (p.Pro1841Arg)
2g.135789612G>TCA348586054LCTc.5522C>A (p.Pro1841His)
2g.135789613G>ACA348586058LCTc.5521C>T (p.Pro1841Ser)
2g.135789613G>CCA348586063LCTc.5521C>G (p.Pro1841Ala)
2g.135789613G>TCA348586060LCTc.5521C>A (p.Pro1841Thr)
2g.135789614G>ACA429085007LCTc.5520C>T (p.Phe1840=)
gnomAD v4
2g.135789614G>CCA348586067LCTc.5520C>G (p.Phe1840Leu)
2g.135789614G>TCA348586069LCTc.5520C>A (p.Phe1840Leu)
2g.135789615A>CCA348586073LCTc.5519T>G (p.Phe1840Cys)
2g.135789615A>GCA348586075LCTc.5519T>C (p.Phe1840Ser)
2g.135789615A>TCA348586077LCTc.5519T>A (p.Phe1840Tyr)
2g.135789616A>CCA348586086LCTc.5518T>G (p.Phe1840Val)
2g.135789616A>GCA348586083LCTc.5518T>C (p.Phe1840Leu)
2g.135789616A>TCA348586082LCTc.5518T>A (p.Phe1840Ile)
2g.135789617G>ACA429085010LCTc.5517C>T (p.Gly1839=)
2g.135789617G>CCA429085011LCTc.5517C>G (p.Gly1839=)
2g.135789617G>TCA429085013LCTc.5517C>A (p.Gly1839=)
2g.135789618C>ACA348586090LCTc.5516G>T (p.Gly1839Val)
2g.135789618C=CA1290822669LCTc.5516G= (p.Gly1839=)
2g.135789618C>GCA348586089LCTc.5516G>C (p.Gly1839Ala)
dbSNP gnomAD v2 gnomAD v4
2g.135789618C>TCA1887604LCTc.5516G>A (p.Gly1839Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789619C>ACA348586095LCTc.5515G>T (p.Gly1839Cys)
2g.135789619C>GCA348586099LCTc.5515G>C (p.Gly1839Arg)
2g.135789619C>TCA348586097LCTc.5515G>A (p.Gly1839Ser)
2g.135789620delCA2697551029LCTc.5514del (p.Asn1838LysfsTer26)
ClinVar
2g.135789620A>CCA348586103LCTc.5514T>G (p.Asn1838Lys)
2g.135789620A>GCA429085017LCTc.5514T>C (p.Asn1838=)
gnomAD v4
2g.135789620A>TCA348586105LCTc.5514T>A (p.Asn1838Lys)
2g.135789621T>ACA348586109LCTc.5513A>T (p.Asn1838Ile)
2g.135789621T>CCA348586111LCTc.5513A>G (p.Asn1838Ser)
dbSNP gnomAD v4
2g.135789621T>GCA348586113LCTc.5513A>C (p.Asn1838Thr)
2g.135789621T=CA1290822670LCTc.5513A= (p.Asn1838=)
2g.135789622T>ACA348586117LCTc.5512A>T (p.Asn1838Tyr)
2g.135789622T>CCA348586119LCTc.5512A>G (p.Asn1838Asp)
2g.135789622T>GCA348586120LCTc.5512A>C (p.Asn1838His)
2g.135789623G>ACA429085019LCTc.5511C>T (p.Cys1837=)
ClinVar
2g.135789623G>CCA348586122LCTc.5511C>G (p.Cys1837Trp)
2g.135789623G>TCA348586124LCTc.5511C>A (p.Cys1837Ter)
2g.135789624C>ACA348586127LCTc.5510G>T (p.Cys1837Phe)
2g.135789624C>GCA348586129LCTc.5510G>C (p.Cys1837Ser)
2g.135789624C>TCA348586132LCTc.5510G>A (p.Cys1837Tyr)
2g.135789625A>CCA348586135LCTc.5509T>G (p.Cys1837Gly)
2g.135789625A>GCA348586140LCTc.5509T>C (p.Cys1837Arg)
2g.135789625A>TCA348586137LCTc.5509T>A (p.Cys1837Ser)
2g.135789626T>ACA429085021LCTc.5508A>T (p.Arg1836=)
2g.135789626T>CCA429085022LCTc.5508A>G (p.Arg1836=)
2g.135789626T>GCA429085023LCTc.5508A>C (p.Arg1836=)
2g.135789627C>ACA348586144LCTc.5507G>T (p.Arg1836Leu)
2g.135789627C=CA1290822671LCTc.5507G= (p.Arg1836=)
2g.135789627C>GCA348586146LCTc.5507G>C (p.Arg1836Pro)
2g.135789627C>TCA348586148LCTc.5507G>A (p.Arg1836Gln)
dbSNP gnomAD v2 gnomAD v4
2g.135789628G>ACA348586150LCTc.5506C>T (p.Arg1836Ter)
gnomAD v4 COSMIC
2g.135789628G>CCA348586153LCTc.5506C>G (p.Arg1836Gly)
2g.135789628G>TCA429085024LCTc.5506C>A (p.Arg1836=)
COSMIC
2g.135789629G>ACA1887605LCTc.5505C>T (p.Val1835=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789629G>CCA429085026LCTc.5505C>G (p.Val1835=)
2g.135789629G=CA1290822672LCTc.5505C= (p.Val1835=)
2g.135789629G>TCA429085025LCTc.5505C>A (p.Val1835=)
2g.135789630A>CCA348586159LCTc.5504T>G (p.Val1835Gly)
2g.135789630A>GCA348586161LCTc.5504T>C (p.Val1835Ala)
2g.135789630A>TCA348586164LCTc.5504T>A (p.Val1835Asp)
2g.135789631C>ACA348586172LCTc.5503G>T (p.Val1835Phe)
2g.135789631C>GCA348586170LCTc.5503G>C (p.Val1835Leu)
2g.135789631C>TCA348586168LCTc.5503G>A (p.Val1835Ile)
2g.135789632C>ACA429085027LCTc.5502G>T (p.Val1834=)
2g.135789632C=CA1290822673LCTc.5502G= (p.Val1834=)
2g.135789632C>GCA429085028LCTc.5502G>C (p.Val1834=)
2g.135789632C>TCA56594976LCTc.5502G>A (p.Val1834=)
dbSNP
2g.135789633A>CCA348586177LCTc.5501T>G (p.Val1834Gly)
2g.135789633A>GCA348586179LCTc.5501T>C (p.Val1834Ala)
2g.135789633A>TCA348586181LCTc.5501T>A (p.Val1834Glu)
2g.135789634C>ACA348586184LCTc.5500G>T (p.Val1834Leu)
2g.135789634C=CA1290822674LCTc.5500G= (p.Val1834=)
2g.135789634C>GCA348586186LCTc.5500G>C (p.Val1834Leu)
2g.135789634C>TCA348586187LCTc.5500G>A (p.Val1834Met)
dbSNP
2g.135789635A>CCA429085032LCTc.5499T>G (p.Ser1833=)
2g.135789635A>GCA429085033LCTc.5499T>C (p.Ser1833=)
gnomAD v4
2g.135789635A>TCA429085034LCTc.5499T>A (p.Ser1833=)
2g.135789637_135789638delCA2577107650LCTc.5498_5499del (p.Ser1833CysfsTer9)
2g.135789636G>ACA348586192LCTc.5498C>T (p.Ser1833Phe)
2g.135789636G>CCA348586194LCTc.5498C>G (p.Ser1833Cys)
2g.135789636G>TCA348586196LCTc.5498C>A (p.Ser1833Tyr)
2g.135789637A>CCA348586200LCTc.5497T>G (p.Ser1833Ala)
2g.135789637A>GCA348586202LCTc.5497T>C (p.Ser1833Pro)
2g.135789637A>TCA348586204LCTc.5497T>A (p.Ser1833Thr)
2g.135789638G>ACA56594977LCTc.5496C>T (p.Ala1832=)
dbSNP gnomAD v3 gnomAD v4
2g.135789638G>CCA429085039LCTc.5496C>G (p.Ala1832=)
2g.135789638G=CA1290822675LCTc.5496C= (p.Ala1832=)
2g.135789638G>TCA429085036LCTc.5496C>A (p.Ala1832=)
2g.135789639G>ACA348586212LCTc.5495C>T (p.Ala1832Val)
2g.135789639G>CCA348586207LCTc.5495C>G (p.Ala1832Gly)
2g.135789639G>TCA348586209LCTc.5495C>A (p.Ala1832Asp)
2g.135789641_135789652dupCA2577107653LCTc.5484_5495dup (p.Ala1832_Ser1833insLysPheTyrAla)
gnomAD v4
2g.135789640C>ACA348586215LCTc.5494G>T (p.Ala1832Ser)
2g.135789640C=CA1290822676LCTc.5494G= (p.Ala1832=)
2g.135789640C>GCA348586217LCTc.5494G>C (p.Ala1832Pro)
2g.135789640C>TCA348586219LCTc.5494G>A (p.Ala1832Thr)
dbSNP gnomAD v3 gnomAD v4
2g.135789641G>ACA1887606LCTc.5493C>T (p.Tyr1831=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789641G>CCA348586224LCTc.5493C>G (p.Tyr1831Ter)
2g.135789641G=CA1290822677LCTc.5493C= (p.Tyr1831=)
2g.135789641G>TCA348586226LCTc.5493C>A (p.Tyr1831Ter)
2g.135789642T>ACA348586230LCTc.5492A>T (p.Tyr1831Phe)
2g.135789642T>CCA1887607LCTc.5492A>G (p.Tyr1831Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789642T>GCA348586232LCTc.5492A>C (p.Tyr1831Ser)
2g.135789642T=CA1290822678LCTc.5492A= (p.Tyr1831=)
2g.135789643A>CCA348586235LCTc.5491T>G (p.Tyr1831Asp)
2g.135789643A>GCA348586238LCTc.5491T>C (p.Tyr1831His)
2g.135789643A>TCA348586240LCTc.5491T>A (p.Tyr1831Asn)
2g.135789644G>ACA429085042LCTc.5490C>T (p.Phe1830=)
2g.135789644G>CCA348586246LCTc.5490C>G (p.Phe1830Leu)
2g.135789644G>TCA348586244LCTc.5490C>A (p.Phe1830Leu)
2g.135789645A>CCA348586250LCTc.5489T>G (p.Phe1830Cys)
2g.135789645A>GCA348586253LCTc.5489T>C (p.Phe1830Ser)
2g.135789645A>TCA348586251LCTc.5489T>A (p.Phe1830Tyr)
2g.135789646A>CCA348586256LCTc.5488T>G (p.Phe1830Val)
2g.135789646A>GCA348586259LCTc.5488T>C (p.Phe1830Leu)
2g.135789646A>TCA348586261LCTc.5488T>A (p.Phe1830Ile)
2g.135789647C>ACA348586265LCTc.5487G>T (p.Lys1829Asn)
COSMIC
2g.135789647C>GCA348586267LCTc.5487G>C (p.Lys1829Asn)
2g.135789647C>TCA429085046LCTc.5487G>A (p.Lys1829=)
2g.135789648T>ACA348586270LCTc.5486A>T (p.Lys1829Met)
2g.135789648T>CCA1887608LCTc.5486A>G (p.Lys1829Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789648T>GCA348586275LCTc.5486A>C (p.Lys1829Thr)
2g.135789648T=CA1290822679LCTc.5486A= (p.Lys1829=)
2g.135789649T>ACA348586278LCTc.5485A>T (p.Lys1829Ter)
2g.135789649T>CCA348586280LCTc.5485A>G (p.Lys1829Glu)
2g.135789649T>GCA348586283LCTc.5485A>C (p.Lys1829Gln)
2g.135789650C>ACA429085051LCTc.5484G>T (p.Ala1828=)
2g.135789650C=CA1290822680LCTc.5484G= (p.Ala1828=)
2g.135789650C>GCA429085052LCTc.5484G>C (p.Ala1828=)
2g.135789650C>TCA1887609LCTc.5484G>A (p.Ala1828=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135789651G>ACA1887610LCTc.5483C>T (p.Ala1828Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789651G>CCA348586292LCTc.5483C>G (p.Ala1828Gly)
2g.135789651G=CA1290822681LCTc.5483C= (p.Ala1828=)
2g.135789651G>TCA348586289LCTc.5483C>A (p.Ala1828Glu)
2g.135789652C>ACA348586297LCTc.5482G>T (p.Ala1828Ser)
2g.135789652C=CA1290822682LCTc.5482G= (p.Ala1828=)
2g.135789652C>GCA348586300LCTc.5482G>C (p.Ala1828Pro)
2g.135789652C>TCA1887611LCTc.5482G>A (p.Ala1828Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789653T>ACA429085055LCTc.5481A>T (p.Ser1827=)
2g.135789653T>CCA429085056LCTc.5481A>G (p.Ser1827=)
2g.135789653T>GCA429085058LCTc.5481A>C (p.Ser1827=)
2g.135789654G>ACA348586306LCTc.5480C>T (p.Ser1827Leu)
2g.135789654G>CCA348586308LCTc.5480C>G (p.Ser1827Ter)
2g.135789654G>TCA348586310LCTc.5480C>A (p.Ser1827Ter)
2g.135789655A>CCA348586314LCTc.5479T>G (p.Ser1827Ala)
2g.135789655A>GCA348586317LCTc.5479T>C (p.Ser1827Pro)
2g.135789655A>TCA348586319LCTc.5479T>A (p.Ser1827Thr)

Number of alleles fetched