Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197101464A=CA1141149577ASPMn.2108-5300T=
c.7787T= (p.Val2596=)
c.4066-5300T= (n.4066-5300T=)
c.1816-5300T= (n.1816-5300T=)
c.1745T= (p.Val582=)
1g.197101464A>CCA344015699ASPMn.2108-5300T>G
c.7787T>G (p.Val2596Gly)
c.4066-5300T>G (n.4066-5300T>G)
c.1816-5300T>G (n.1816-5300T>G)
c.1745T>G (p.Val582Gly)
1g.197101464A>GCA171257ASPMn.2108-5300T>C
c.7787T>C (p.Val2596Ala)
c.4066-5300T>C (n.4066-5300T>C)
c.1816-5300T>C (n.1816-5300T>C)
c.1745T>C (p.Val582Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101464A>TCA344015703ASPMn.2108-5300T>A
c.7787T>A (p.Val2596Glu)
c.4066-5300T>A (n.4066-5300T>A)
c.1816-5300T>A (n.1816-5300T>A)
c.1745T>A (p.Val582Glu)
1g.197101464dupCA2649661737ASPMn.2108-5300dup
c.7787dup (p.Phe2597IlefsTer5)
c.4066-5300dup (n.4066-5300dup)
c.1816-5300dup (n.1816-5300dup)
c.1745dup (p.Phe583IlefsTer5)
gnomAD v4
1g.197101464_197101468delinsACTTTCA1217929935ASPMn.2108-5304_2108-5300delinsAAAGT
c.7783_7787delinsAAAGT (p.Lys2595=)
c.4066-5304_4066-5300delinsAAAGT (n.4066-5304_4066-5300delinsAAAGT)
c.1816-5304_1816-5300delinsAAAGT (n.1816-5304_1816-5300delinsAAAGT)
c.1741_1745delinsAAAGT (p.Lys581=)
1g.197101465C>ACA344015717ASPMn.2108-5301G>T
c.7786G>T (p.Val2596Leu)
c.4066-5301G>T (n.4066-5301G>T)
c.1816-5301G>T (n.1816-5301G>T)
c.1744G>T (p.Val582Leu)
1g.197101465C>GCA344015714ASPMn.2108-5301G>C
c.7786G>C (p.Val2596Leu)
c.4066-5301G>C (n.4066-5301G>C)
c.1816-5301G>C (n.1816-5301G>C)
c.1744G>C (p.Val582Leu)
1g.197101465C>TCA344015708ASPMn.2108-5301G>A
c.7786G>A (p.Val2596Ile)
c.4066-5301G>A (n.4066-5301G>A)
c.1816-5301G>A (n.1816-5301G>A)
c.1744G>A (p.Val582Ile)
gnomAD v4
1g.197101467_197101470delCA1309336ASPMn.2108-5304_2108-5301del
c.7783_7786del (p.Lys2595TyrfsTer20)
c.4066-5304_4066-5301del (n.4066-5304_4066-5301del)
c.1816-5304_1816-5301del (n.1816-5304_1816-5301del)
c.1741_1744del (p.Lys581TyrfsTer20)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101466T>ACA344015720ASPMn.2108-5302A>T
c.7785A>T (p.Lys2595Asn)
c.4066-5302A>T (n.4066-5302A>T)
c.1816-5302A>T (n.1816-5302A>T)
c.1743A>T (p.Lys581Asn)
1g.197101466T>CCA422805745ASPMn.2108-5302A>G
c.7785A>G (p.Lys2595=)
c.4066-5302A>G (n.4066-5302A>G)
c.1816-5302A>G (n.1816-5302A>G)
c.1743A>G (p.Lys581=)
1g.197101466T>GCA344015722ASPMn.2108-5302A>C
c.7785A>C (p.Lys2595Asn)
c.4066-5302A>C (n.4066-5302A>C)
c.1816-5302A>C (n.1816-5302A>C)
c.1743A>C (p.Lys581Asn)
1g.197101471_197101476delCA2649661738ASPMn.2108-5307_2108-5302del
c.7780_7785del (p.Gln2594_Lys2595del)
c.4066-5307_4066-5302del (n.4066-5307_4066-5302del)
c.1816-5307_1816-5302del (n.1816-5307_1816-5302del)
c.1738_1743del (p.Gln580_Lys581del)
gnomAD v4
1g.197101467T>ACA344015728ASPMn.2108-5303A>T
c.7784A>T (p.Lys2595Ile)
c.4066-5303A>T (n.4066-5303A>T)
c.1816-5303A>T (n.1816-5303A>T)
c.1742A>T (p.Lys581Ile)
1g.197101467T>CCA344015730ASPMn.2108-5303A>G
c.7784A>G (p.Lys2595Arg)
c.4066-5303A>G (n.4066-5303A>G)
c.1816-5303A>G (n.1816-5303A>G)
c.1742A>G (p.Lys581Arg)
1g.197101467T>GCA344015732ASPMn.2108-5303A>C
c.7784A>C (p.Lys2595Thr)
c.4066-5303A>C (n.4066-5303A>C)
c.1816-5303A>C (n.1816-5303A>C)
c.1742A>C (p.Lys581Thr)
dbSNP
1g.197101467T=CA1217929937ASPMn.2108-5303A=
c.7784A= (p.Lys2595=)
c.4066-5303A= (n.4066-5303A=)
c.1816-5303A= (n.1816-5303A=)
c.1742A= (p.Lys581=)
1g.197101467_197101469delinsTTCCA1217929936ASPMn.2108-5305_2108-5303delinsGAA
c.7782_7784delinsGAA (p.Gln2594=)
c.4066-5305_4066-5303delinsGAA (n.4066-5305_4066-5303delinsGAA)
c.1816-5305_1816-5303delinsGAA (n.1816-5305_1816-5303delinsGAA)
c.1740_1742delinsGAA (p.Gln580=)
1g.197101468T>ACA344015742ASPMn.2108-5304A>T
c.7783A>T (p.Lys2595Ter)
c.4066-5304A>T (n.4066-5304A>T)
c.1816-5304A>T (n.1816-5304A>T)
c.1741A>T (p.Lys581Ter)
dbSNP gnomAD v2 gnomAD v4
1g.197101468T>CCA1309337ASPMn.2108-5304A>G
c.7783A>G (p.Lys2595Glu)
c.4066-5304A>G (n.4066-5304A>G)
c.1816-5304A>G (n.1816-5304A>G)
c.1741A>G (p.Lys581Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101468T>GCA344015748ASPMn.2108-5304A>C
c.7783A>C (p.Lys2595Gln)
c.4066-5304A>C (n.4066-5304A>C)
c.1816-5304A>C (n.1816-5304A>C)
c.1741A>C (p.Lys581Gln)
1g.197101468T=CA1141970395ASPMn.2108-5304A=
c.7783A= (p.Lys2595=)
c.4066-5304A= (n.4066-5304A=)
c.1816-5304A= (n.1816-5304A=)
c.1741A= (p.Lys581=)
1g.197101468_197101470delinsTCTCA1143355925ASPMn.2108-5306_2108-5304delinsAGA
c.7781_7783delinsAGA (p.Gln2594=)
c.4066-5306_4066-5304delinsAGA (n.4066-5306_4066-5304delinsAGA)
c.1816-5306_1816-5304delinsAGA (n.1816-5306_1816-5304delinsAGA)
c.1739_1741delinsAGA (p.Gln580=)
1g.197101469_197101470dupCA1217929938ASPMn.2108-5305_2108-5304dup
c.7782_7783dup (p.Lys2595ArgfsTer22)
c.4066-5305_4066-5304dup (n.4066-5305_4066-5304dup)
c.1816-5305_1816-5304dup (n.1816-5305_1816-5304dup)
c.1740_1741dup (p.Lys581ArgfsTer22)
dbSNP
1g.197101469_197101470delCA342272ASPMn.2108-5305_2108-5304del
c.7782_7783del (p.Lys2595SerfsTer6)
c.4066-5305_4066-5304del (n.4066-5305_4066-5304del)
c.1816-5305_1816-5304del (n.1816-5305_1816-5304del)
c.1740_1741del (p.Lys581SerfsTer6)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197101469_197101472delCA2649661739ASPMn.2108-5307_2108-5304del
c.7780_7783del (p.Gln2594LysfsTer21)
c.4066-5307_4066-5304del (n.4066-5307_4066-5304del)
c.1816-5307_1816-5304del (n.1816-5307_1816-5304del)
c.1738_1741del (p.Gln580LysfsTer21)
gnomAD v4
1g.197101469C>ACA344015753ASPMn.2108-5305G>T
c.7782G>T (p.Gln2594His)
c.4066-5305G>T (n.4066-5305G>T)
c.1816-5305G>T (n.1816-5305G>T)
c.1740G>T (p.Gln580His)
1g.197101469C>GCA344015758ASPMn.2108-5305G>C
c.7782G>C (p.Gln2594His)
c.4066-5305G>C (n.4066-5305G>C)
c.1816-5305G>C (n.1816-5305G>C)
c.1740G>C (p.Gln580His)
1g.197101469C>TCA422805750ASPMn.2108-5305G>A
c.7782G>A (p.Gln2594=)
c.4066-5305G>A (n.4066-5305G>A)
c.1816-5305G>A (n.1816-5305G>A)
c.1740G>A (p.Gln580=)
gnomAD v4 COSMIC
1g.197101470T>ACA344015761ASPMn.2108-5306A>T
c.7781A>T (p.Gln2594Leu)
c.4066-5306A>T (n.4066-5306A>T)
c.1816-5306A>T (n.1816-5306A>T)
c.1739A>T (p.Gln580Leu)
1g.197101470T>CCA344015764ASPMn.2108-5306A>G
c.7781A>G (p.Gln2594Arg)
c.4066-5306A>G (n.4066-5306A>G)
c.1816-5306A>G (n.1816-5306A>G)
c.1739A>G (p.Gln580Arg)
dbSNP gnomAD v4
1g.197101470T>GCA344015765ASPMn.2108-5306A>C
c.7781A>C (p.Gln2594Pro)
c.4066-5306A>C (n.4066-5306A>C)
c.1816-5306A>C (n.1816-5306A>C)
c.1739A>C (p.Gln580Pro)
1g.197101470T=CA1217929939ASPMn.2108-5306A=
c.7781A= (p.Gln2594=)
c.4066-5306A= (n.4066-5306A=)
c.1816-5306A= (n.1816-5306A=)
c.1739A= (p.Gln580=)
1g.197101471G>ACA344015769ASPMn.2108-5307C>T
c.7780C>T (p.Gln2594Ter)
c.4066-5307C>T (n.4066-5307C>T)
c.1816-5307C>T (n.1816-5307C>T)
c.1738C>T (p.Gln580Ter)
gnomAD v4
1g.197101471G>CCA344015771ASPMn.2108-5307C>G
c.7780C>G (p.Gln2594Glu)
c.4066-5307C>G (n.4066-5307C>G)
c.1816-5307C>G (n.1816-5307C>G)
c.1738C>G (p.Gln580Glu)
1g.197101471G>TCA344015774ASPMn.2108-5307C>A
c.7780C>A (p.Gln2594Lys)
c.4066-5307C>A (n.4066-5307C>A)
c.1816-5307C>A (n.1816-5307C>A)
c.1738C>A (p.Gln580Lys)
gnomAD v4
1g.197101472T>ACA344015777ASPMn.2108-5308A>T
c.7779A>T (p.Lys2593Asn)
c.4066-5308A>T (n.4066-5308A>T)
c.1816-5308A>T (n.1816-5308A>T)
c.1737A>T (p.Lys579Asn)
1g.197101472T>CCA422805756ASPMn.2108-5308A>G
c.7779A>G (p.Lys2593=)
c.4066-5308A>G (n.4066-5308A>G)
c.1816-5308A>G (n.1816-5308A>G)
c.1737A>G (p.Lys579=)
gnomAD v4 COSMIC
1g.197101472T>GCA344015779ASPMn.2108-5308A>C
c.7779A>C (p.Lys2593Asn)
c.4066-5308A>C (n.4066-5308A>C)
c.1816-5308A>C (n.1816-5308A>C)
c.1737A>C (p.Lys579Asn)
1g.197101475_197101480delCA2649661741ASPMn.2108-5313_2108-5308del
c.7774_7779del (p.Lys2592_Lys2593del)
c.4066-5313_4066-5308del (n.4066-5313_4066-5308del)
c.1816-5313_1816-5308del (n.1816-5313_1816-5308del)
c.1732_1737del (p.Lys578_Lys579del)
gnomAD v4
1g.197101473T>ACA1309338ASPMn.2108-5309A>T
c.7778A>T (p.Lys2593Ile)
c.4066-5309A>T (n.4066-5309A>T)
c.1816-5309A>T (n.1816-5309A>T)
c.1736A>T (p.Lys579Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197101473T>CCA344015787ASPMn.2108-5309A>G
c.7778A>G (p.Lys2593Arg)
c.4066-5309A>G (n.4066-5309A>G)
c.1816-5309A>G (n.1816-5309A>G)
c.1736A>G (p.Lys579Arg)
1g.197101473T>GCA344015784ASPMn.2108-5309A>C
c.7778A>C (p.Lys2593Thr)
c.4066-5309A>C (n.4066-5309A>C)
c.1816-5309A>C (n.1816-5309A>C)
c.1736A>C (p.Lys579Thr)
1g.197101473T=CA1144073787ASPMn.2108-5309A=
c.7778A= (p.Lys2593=)
c.4066-5309A= (n.4066-5309A=)
c.1816-5309A= (n.1816-5309A=)
c.1736A= (p.Lys579=)
1g.197101474T>ACA344015792ASPMn.2108-5310A>T
c.7777A>T (p.Lys2593Ter)
c.4066-5310A>T (n.4066-5310A>T)
c.1816-5310A>T (n.1816-5310A>T)
c.1735A>T (p.Lys579Ter)
1g.197101474T>CCA344015796ASPMn.2108-5310A>G
c.7777A>G (p.Lys2593Glu)
c.4066-5310A>G (n.4066-5310A>G)
c.1816-5310A>G (n.1816-5310A>G)
c.1735A>G (p.Lys579Glu)
1g.197101474T>GCA344015797ASPMn.2108-5310A>C
c.7777A>C (p.Lys2593Gln)
c.4066-5310A>C (n.4066-5310A>C)
c.1816-5310A>C (n.1816-5310A>C)
c.1735A>C (p.Lys579Gln)
1g.197101475_197101476delCA2649661742ASPMn.2108-5311_2108-5310del
c.7776_7777del (p.Lys2593ThrfsTer8)
c.4066-5311_4066-5310del (n.4066-5311_4066-5310del)
c.1816-5311_1816-5310del (n.1816-5311_1816-5310del)
c.1734_1735del (p.Lys579ThrfsTer8)
gnomAD v4
1g.197101475C>ACA344015798ASPMn.2108-5311G>T
c.7776G>T (p.Lys2592Asn)
c.4066-5311G>T (n.4066-5311G>T)
c.1816-5311G>T (n.1816-5311G>T)
c.1734G>T (p.Lys578Asn)

Number of alleles fetched