Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135789512_135789513delCA2661273532LCTc.5563+63_5563+64del (n.5563+63_5563+64del)
gnomAD v4
2g.135789510_135789513delCA2661273534LCTc.5563+61_5563+64del (n.5563+61_5563+64del)
gnomAD v4
2g.135789512A=CA1290822635LCTc.5563+59T= (n.5563+59T=)
2g.135789512A>GCA2661273537LCTc.5563+59T>C (n.5563+59T>C)
gnomAD v4
2g.135789512A>TCA56594907LCTc.5563+59T>A (n.5563+59T>A)
dbSNP gnomAD v3 gnomAD v4
2g.135789513G>ACA2661273538LCTc.5563+58C>T (n.5563+58C>T)
gnomAD v4
2g.135789513G>TCA2577107629LCTc.5563+58C>A (n.5563+58C>A)
gnomAD v4
2g.135789514G>ACA2661273539LCTc.5563+57C>T (n.5563+57C>T)
gnomAD v4
2g.135789514G>CCA2661273540LCTc.5563+57C>G (n.5563+57C>G)
gnomAD v4
2g.135789514G>TCA2661273541LCTc.5563+57C>A (n.5563+57C>A)
gnomAD v4
2g.135789515C>ACA2661273542LCTc.5563+56G>T (n.5563+56G>T)
gnomAD v4
2g.135789515C=CA1290822636LCTc.5563+56G= (n.5563+56G=)
2g.135789515C>GCA1036793503LCTc.5563+56G>C (n.5563+56G>C)
dbSNP gnomAD v3 gnomAD v4
2g.135789515C>TCA757454297LCTc.5563+56G>A (n.5563+56G>A)
dbSNP gnomAD v3 gnomAD v4
2g.135789517C=CA1290822637LCTc.5563+54G= (n.5563+54G=)
2g.135789517C>GCA2577107630LCTc.5563+54G>C (n.5563+54G>C)
2g.135789517C>TCA56594908LCTc.5563+54G>A (n.5563+54G>A)
dbSNP gnomAD v3 gnomAD v4
2g.135789521C>ACA2661273543LCTc.5563+50G>T (n.5563+50G>T)
gnomAD v4
2g.135789521C=CA1290822638LCTc.5563+50G= (n.5563+50G=)
2g.135789521C>TCA2577107631LCTc.5563+50G>A (n.5563+50G>A)
2g.135789522dupCA1887594LCTc.5563+49dup (n.5563+49dup)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789523C=CA1290822639LCTc.5563+48G= (n.5563+48G=)
2g.135789523C>TCA536547390LCTc.5563+48G>A (n.5563+48G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135789524C=CA1290822640LCTc.5563+47G= (n.5563+47G=)
2g.135789524C>GCA1887595LCTc.5563+47G>C (n.5563+47G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789525T>ACA2661273544LCTc.5563+46A>T (n.5563+46A>T)
gnomAD v4
2g.135789526G>ACA2661273545LCTc.5563+45C>T (n.5563+45C>T)
gnomAD v4
2g.135789526G>TCA2661273546LCTc.5563+45C>A (n.5563+45C>A)
gnomAD v4
2g.135789527C>ACA2661273547LCTc.5563+44G>T (n.5563+44G>T)
gnomAD v4
2g.135789528C>GCA2577107632LCTc.5563+43G>C (n.5563+43G>C)
2g.135789529C>ACA2661273548LCTc.5563+42G>T (n.5563+42G>T)
gnomAD v4
2g.135789529C=CA1290822641LCTc.5563+42G= (n.5563+42G=)
2g.135789529C>GCA1036793510LCTc.5563+42G>C (n.5563+42G>C)
dbSNP gnomAD v3 gnomAD v4
2g.135789529C>TCA2661273549LCTc.5563+42G>A (n.5563+42G>A)
gnomAD v4
2g.135789530T>CCA2700693485LCTc.5563+41A>G (n.5563+41A>G)
dbSNP
2g.135789534C=CA1290822642LCTc.5563+37G= (n.5563+37G=)
2g.135789534C>TCA1290822643LCTc.5563+37G>A (n.5563+37G>A)
dbSNP gnomAD v4
2g.135789535C=CA1290822644LCTc.5563+36G= (n.5563+36G=)
2g.135789535C>TCA536547391LCTc.5563+36G>A (n.5563+36G>A)
dbSNP gnomAD v2 gnomAD v4
2g.135789536C>ACA2577107633LCTc.5563+35G>T (n.5563+35G>T)
2g.135789536C=CA1290822645LCTc.5563+35G= (n.5563+35G=)
2g.135789536C>GCA1290822646LCTc.5563+35G>C (n.5563+35G>C)
dbSNP gnomAD v4
2g.135789536C>TCA2661273550LCTc.5563+35G>A (n.5563+35G>A)
gnomAD v4
2g.135789538dupCA1887596LCTc.5563+34dup (n.5563+34dup)
dbSNP ExAC gnomAD v2
2g.135789540G>TCA2661273551LCTc.5563+31C>A (n.5563+31C>A)
gnomAD v4
2g.135789541G>TCA2661273552LCTc.5563+30C>A (n.5563+30C>A)
gnomAD v4
2g.135789542C>TCA2661273553LCTc.5563+29G>A (n.5563+29G>A)
gnomAD v4
2g.135789544T>CCA536547392LCTc.5563+27A>G (n.5563+27A>G)
dbSNP gnomAD v2 gnomAD v4
2g.135789544T=CA1290822647LCTc.5563+27A= (n.5563+27A=)
2g.135789546_135789548delCA2661273554LCTc.5563+25_5563+27del (n.5563+25_5563+27del)
gnomAD v4
2g.135789545T>CCA1036793511LCTc.5563+26A>G (n.5563+26A>G)
dbSNP gnomAD v3 gnomAD v4
2g.135789545T=CA1290822648LCTc.5563+26A= (n.5563+26A=)
2g.135789546A=CA1290822649LCTc.5563+25T= (n.5563+25T=)
2g.135789546A>GCA1036793513LCTc.5563+25T>C (n.5563+25T>C)
dbSNP gnomAD v3 gnomAD v4
2g.135789548T>ACA1887597LCTc.5563+23A>T (n.5563+23A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789548T>CCA2661273555LCTc.5563+23A>G (n.5563+23A>G)
gnomAD v4
2g.135789548T=CA1290822650LCTc.5563+23A= (n.5563+23A=)
2g.135789549C=CA1290822651LCTc.5563+22G= (n.5563+22G=)
2g.135789549C>GCA536547393LCTc.5563+22G>C (n.5563+22G>C)
dbSNP gnomAD v2 gnomAD v4
2g.135789549C>TCA2661273556LCTc.5563+22G>A (n.5563+22G>A)
gnomAD v4
2g.135789551C>ACA2661273557LCTc.5563+20G>T (n.5563+20G>T)
gnomAD v4
2g.135789551C=CA1290822652LCTc.5563+20G= (n.5563+20G=)
2g.135789551C>TCA56594920LCTc.5563+20G>A (n.5563+20G>A)
dbSNP
2g.135789552T>GCA2577107634LCTc.5563+19A>C (n.5563+19A>C)
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)

Number of alleles fetched