Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.28141525T>A | CA391381308 | HERC2 | c.11922A>T (p.Lys3974Asn) c.3633A>T (p.Lys1211Asn) c.11808A>T (p.Lys3936Asn) c.11907A>T (p.Lys3969Asn) c.11664A>T (p.Lys3888Asn) c.11439A>T (p.Lys3813Asn) c.9438A>T (p.Lys3146Asn) c.8667A>T (p.Lys2889Asn) c.6039A>T (p.Lys2013Asn) c.5088A>T (p.Lys1696Asn) | |
15 | g.28141525T>C | CA489234743 | HERC2 | c.11922A>G (p.Lys3974=) c.3633A>G (p.Lys1211=) c.11808A>G (p.Lys3936=) c.11907A>G (p.Lys3969=) c.11664A>G (p.Lys3888=) c.11439A>G (p.Lys3813=) c.9438A>G (p.Lys3146=) c.8667A>G (p.Lys2889=) c.6039A>G (p.Lys2013=) c.5088A>G (p.Lys1696=) | |
15 | g.28141525T>G | CA391381307 | HERC2 | c.11922A>C (p.Lys3974Asn) c.3633A>C (p.Lys1211Asn) c.11808A>C (p.Lys3936Asn) c.11907A>C (p.Lys3969Asn) c.11664A>C (p.Lys3888Asn) c.11439A>C (p.Lys3813Asn) c.9438A>C (p.Lys3146Asn) c.8667A>C (p.Lys2889Asn) c.6039A>C (p.Lys2013Asn) c.5088A>C (p.Lys1696Asn) | |
15 | g.28141526T>A | CA391381309 | HERC2 | c.11921A>T (p.Lys3974Ile) c.3632A>T (p.Lys1211Ile) c.11807A>T (p.Lys3936Ile) c.11906A>T (p.Lys3969Ile) c.11663A>T (p.Lys3888Ile) c.11438A>T (p.Lys3813Ile) c.9437A>T (p.Lys3146Ile) c.8666A>T (p.Lys2889Ile) c.6038A>T (p.Lys2013Ile) c.5087A>T (p.Lys1696Ile) | |
15 | g.28141526T>C | CA391381311 | HERC2 | c.11921A>G (p.Lys3974Arg) c.3632A>G (p.Lys1211Arg) c.11807A>G (p.Lys3936Arg) c.11906A>G (p.Lys3969Arg) c.11663A>G (p.Lys3888Arg) c.11438A>G (p.Lys3813Arg) c.9437A>G (p.Lys3146Arg) c.8666A>G (p.Lys2889Arg) c.6038A>G (p.Lys2013Arg) c.5087A>G (p.Lys1696Arg) | |
15 | g.28141526T>G | CA391381313 | HERC2 | c.11921A>C (p.Lys3974Thr) c.3632A>C (p.Lys1211Thr) c.11807A>C (p.Lys3936Thr) c.11906A>C (p.Lys3969Thr) c.11663A>C (p.Lys3888Thr) c.11438A>C (p.Lys3813Thr) c.9437A>C (p.Lys3146Thr) c.8666A>C (p.Lys2889Thr) c.6038A>C (p.Lys2013Thr) c.5087A>C (p.Lys1696Thr) | |
15 | g.28141527T>A | CA391381315 | HERC2 | c.11920A>T (p.Lys3974Ter) c.3631A>T (p.Lys1211Ter) c.11806A>T (p.Lys3936Ter) c.11905A>T (p.Lys3969Ter) c.11662A>T (p.Lys3888Ter) c.11437A>T (p.Lys3813Ter) c.9436A>T (p.Lys3146Ter) c.8665A>T (p.Lys2889Ter) c.6037A>T (p.Lys2013Ter) c.5086A>T (p.Lys1696Ter) | |
15 | g.28141527T>C | CA391381316 | HERC2 | c.11920A>G (p.Lys3974Glu) c.3631A>G (p.Lys1211Glu) c.11806A>G (p.Lys3936Glu) c.11905A>G (p.Lys3969Glu) c.11662A>G (p.Lys3888Glu) c.11437A>G (p.Lys3813Glu) c.9436A>G (p.Lys3146Glu) c.8665A>G (p.Lys2889Glu) c.6037A>G (p.Lys2013Glu) c.5086A>G (p.Lys1696Glu) | |
15 | g.28141527T>G | CA391381318 | HERC2 | c.11920A>C (p.Lys3974Gln) c.3631A>C (p.Lys1211Gln) c.11806A>C (p.Lys3936Gln) c.11905A>C (p.Lys3969Gln) c.11662A>C (p.Lys3888Gln) c.11437A>C (p.Lys3813Gln) c.9436A>C (p.Lys3146Gln) c.8665A>C (p.Lys2889Gln) c.6037A>C (p.Lys2013Gln) c.5086A>C (p.Lys1696Gln) | |
15 | g.28141528G>A | CA267946096 | HERC2 | c.11919C>T (p.Val3973=) c.3630C>T (p.Val1210=) c.11805C>T (p.Val3935=) c.11904C>T (p.Val3968=) c.11661C>T (p.Val3887=) c.11436C>T (p.Val3812=) c.9435C>T (p.Val3145=) c.8664C>T (p.Val2888=) c.6036C>T (p.Val2012=) c.5085C>T (p.Val1695=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141528G>C | CA489234745 | HERC2 | c.11919C>G (p.Val3973=) c.3630C>G (p.Val1210=) c.11805C>G (p.Val3935=) c.11904C>G (p.Val3968=) c.11661C>G (p.Val3887=) c.11436C>G (p.Val3812=) c.9435C>G (p.Val3145=) c.8664C>G (p.Val2888=) c.6036C>G (p.Val2012=) c.5085C>G (p.Val1695=) | COSMIC COSMIC |
15 | g.28141528G= | CA2166479885 | HERC2 | c.11919C= (p.Val3973=) c.3630C= (p.Val1210=) c.11805C= (p.Val3935=) c.11904C= (p.Val3968=) c.11661C= (p.Val3887=) c.11436C= (p.Val3812=) c.9435C= (p.Val3145=) c.8664C= (p.Val2888=) c.6036C= (p.Val2012=) c.5085C= (p.Val1695=) | |
15 | g.28141528G>T | CA489234747 | HERC2 | c.11919C>A (p.Val3973=) c.3630C>A (p.Val1210=) c.11805C>A (p.Val3935=) c.11904C>A (p.Val3968=) c.11661C>A (p.Val3887=) c.11436C>A (p.Val3812=) c.9435C>A (p.Val3145=) c.8664C>A (p.Val2888=) c.6036C>A (p.Val2012=) c.5085C>A (p.Val1695=) | COSMIC COSMIC |
15 | g.28141529A>C | CA391381319 | HERC2 | c.11918T>G (p.Val3973Gly) c.3629T>G (p.Val1210Gly) c.11804T>G (p.Val3935Gly) c.11903T>G (p.Val3968Gly) c.11660T>G (p.Val3887Gly) c.11435T>G (p.Val3812Gly) c.9434T>G (p.Val3145Gly) c.8663T>G (p.Val2888Gly) c.6035T>G (p.Val2012Gly) c.5084T>G (p.Val1695Gly) | |
15 | g.28141529A>G | CA391381321 | HERC2 | c.11918T>C (p.Val3973Ala) c.3629T>C (p.Val1210Ala) c.11804T>C (p.Val3935Ala) c.11903T>C (p.Val3968Ala) c.11660T>C (p.Val3887Ala) c.11435T>C (p.Val3812Ala) c.9434T>C (p.Val3145Ala) c.8663T>C (p.Val2888Ala) c.6035T>C (p.Val2012Ala) c.5084T>C (p.Val1695Ala) | |
15 | g.28141529A>T | CA391381322 | HERC2 | c.11918T>A (p.Val3973Asp) c.3629T>A (p.Val1210Asp) c.11804T>A (p.Val3935Asp) c.11903T>A (p.Val3968Asp) c.11660T>A (p.Val3887Asp) c.11435T>A (p.Val3812Asp) c.9434T>A (p.Val3145Asp) c.8663T>A (p.Val2888Asp) c.6035T>A (p.Val2012Asp) c.5084T>A (p.Val1695Asp) | |
15 | g.28141530C>A | CA391381324 | HERC2 | c.11917G>T (p.Val3973Phe) c.3628G>T (p.Val1210Phe) c.11803G>T (p.Val3935Phe) c.11902G>T (p.Val3968Phe) c.11659G>T (p.Val3887Phe) c.11434G>T (p.Val3812Phe) c.9433G>T (p.Val3145Phe) c.8662G>T (p.Val2888Phe) c.6034G>T (p.Val2012Phe) c.5083G>T (p.Val1695Phe) | |
15 | g.28141530C= | CA2166479887 | HERC2 | c.11917G= (p.Val3973=) c.3628G= (p.Val1210=) c.11803G= (p.Val3935=) c.11902G= (p.Val3968=) c.11659G= (p.Val3887=) c.11434G= (p.Val3812=) c.9433G= (p.Val3145=) c.8662G= (p.Val2888=) c.6034G= (p.Val2012=) c.5083G= (p.Val1695=) | |
15 | g.28141530C>G | CA391381325 | HERC2 | c.11917G>C (p.Val3973Leu) c.3628G>C (p.Val1210Leu) c.11803G>C (p.Val3935Leu) c.11902G>C (p.Val3968Leu) c.11659G>C (p.Val3887Leu) c.11434G>C (p.Val3812Leu) c.9433G>C (p.Val3145Leu) c.8662G>C (p.Val2888Leu) c.6034G>C (p.Val2012Leu) c.5083G>C (p.Val1695Leu) | |
15 | g.28141530C>T | CA391381327 | HERC2 | c.11917G>A (p.Val3973Ile) c.3628G>A (p.Val1210Ile) c.11803G>A (p.Val3935Ile) c.11902G>A (p.Val3968Ile) c.11659G>A (p.Val3887Ile) c.11434G>A (p.Val3812Ile) c.9433G>A (p.Val3145Ile) c.8662G>A (p.Val2888Ile) c.6034G>A (p.Val2012Ile) c.5083G>A (p.Val1695Ile) | dbSNP gnomAD v4 |
15 | g.28141531T>A | CA391381331 | HERC2 | c.11916A>T (p.Lys3972Asn) c.3627A>T (p.Lys1209Asn) c.11802A>T (p.Lys3934Asn) c.11901A>T (p.Lys3967Asn) c.11658A>T (p.Lys3886Asn) c.11433A>T (p.Lys3811Asn) c.9432A>T (p.Lys3144Asn) c.8661A>T (p.Lys2887Asn) c.6033A>T (p.Lys2011Asn) c.5082A>T (p.Lys1694Asn) | |
15 | g.28141531T>C | CA489234750 | HERC2 | c.11916A>G (p.Lys3972=) c.3627A>G (p.Lys1209=) c.11802A>G (p.Lys3934=) c.11901A>G (p.Lys3967=) c.11658A>G (p.Lys3886=) c.11433A>G (p.Lys3811=) c.9432A>G (p.Lys3144=) c.8661A>G (p.Lys2887=) c.6033A>G (p.Lys2011=) c.5082A>G (p.Lys1694=) | |
15 | g.28141531T>G | CA391381329 | HERC2 | c.11916A>C (p.Lys3972Asn) c.3627A>C (p.Lys1209Asn) c.11802A>C (p.Lys3934Asn) c.11901A>C (p.Lys3967Asn) c.11658A>C (p.Lys3886Asn) c.11433A>C (p.Lys3811Asn) c.9432A>C (p.Lys3144Asn) c.8661A>C (p.Lys2887Asn) c.6033A>C (p.Lys2011Asn) c.5082A>C (p.Lys1694Asn) | |
15 | g.28141532T>A | CA391381333 | HERC2 | c.11915A>T (p.Lys3972Ile) c.3626A>T (p.Lys1209Ile) c.11801A>T (p.Lys3934Ile) c.11900A>T (p.Lys3967Ile) c.11657A>T (p.Lys3886Ile) c.11432A>T (p.Lys3811Ile) c.9431A>T (p.Lys3144Ile) c.8660A>T (p.Lys2887Ile) c.6032A>T (p.Lys2011Ile) c.5081A>T (p.Lys1694Ile) | dbSNP |
15 | g.28141532T>C | CA391381334 | HERC2 | c.11915A>G (p.Lys3972Arg) c.3626A>G (p.Lys1209Arg) c.11801A>G (p.Lys3934Arg) c.11900A>G (p.Lys3967Arg) c.11657A>G (p.Lys3886Arg) c.11432A>G (p.Lys3811Arg) c.9431A>G (p.Lys3144Arg) c.8660A>G (p.Lys2887Arg) c.6032A>G (p.Lys2011Arg) c.5081A>G (p.Lys1694Arg) | gnomAD v4 |
15 | g.28141532T>G | CA391381335 | HERC2 | c.11915A>C (p.Lys3972Thr) c.3626A>C (p.Lys1209Thr) c.11801A>C (p.Lys3934Thr) c.11900A>C (p.Lys3967Thr) c.11657A>C (p.Lys3886Thr) c.11432A>C (p.Lys3811Thr) c.9431A>C (p.Lys3144Thr) c.8660A>C (p.Lys2887Thr) c.6032A>C (p.Lys2011Thr) c.5081A>C (p.Lys1694Thr) | |
15 | g.28141532T= | CA2166479889 | HERC2 | c.11915A= (p.Lys3972=) c.3626A= (p.Lys1209=) c.11801A= (p.Lys3934=) c.11900A= (p.Lys3967=) c.11657A= (p.Lys3886=) c.11432A= (p.Lys3811=) c.9431A= (p.Lys3144=) c.8660A= (p.Lys2887=) c.6032A= (p.Lys2011=) c.5081A= (p.Lys1694=) | |
15 | g.28141533T>A | CA391381339 | HERC2 | c.11914A>T (p.Lys3972Ter) c.3625A>T (p.Lys1209Ter) c.11800A>T (p.Lys3934Ter) c.11899A>T (p.Lys3967Ter) c.11656A>T (p.Lys3886Ter) c.11431A>T (p.Lys3811Ter) c.9430A>T (p.Lys3144Ter) c.8659A>T (p.Lys2887Ter) c.6031A>T (p.Lys2011Ter) c.5080A>T (p.Lys1694Ter) | |
15 | g.28141533T>C | CA391381340 | HERC2 | c.11914A>G (p.Lys3972Glu) c.3625A>G (p.Lys1209Glu) c.11800A>G (p.Lys3934Glu) c.11899A>G (p.Lys3967Glu) c.11656A>G (p.Lys3886Glu) c.11431A>G (p.Lys3811Glu) c.9430A>G (p.Lys3144Glu) c.8659A>G (p.Lys2887Glu) c.6031A>G (p.Lys2011Glu) c.5080A>G (p.Lys1694Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141533T>G | CA391381342 | HERC2 | c.11914A>C (p.Lys3972Gln) c.3625A>C (p.Lys1209Gln) c.11800A>C (p.Lys3934Gln) c.11899A>C (p.Lys3967Gln) c.11656A>C (p.Lys3886Gln) c.11431A>C (p.Lys3811Gln) c.9430A>C (p.Lys3144Gln) c.8659A>C (p.Lys2887Gln) c.6031A>C (p.Lys2011Gln) c.5080A>C (p.Lys1694Gln) | |
15 | g.28141533T= | CA2166479890 | HERC2 | c.11914A= (p.Lys3972=) c.3625A= (p.Lys1209=) c.11800A= (p.Lys3934=) c.11899A= (p.Lys3967=) c.11656A= (p.Lys3886=) c.11431A= (p.Lys3811=) c.9430A= (p.Lys3144=) c.8659A= (p.Lys2887=) c.6031A= (p.Lys2011=) c.5080A= (p.Lys1694=) | |
15 | g.28141534T>A | CA489234755 | HERC2 | c.11913A>T (p.Ala3971=) c.3624A>T (p.Ala1208=) c.11799A>T (p.Ala3933=) c.11898A>T (p.Ala3966=) c.11655A>T (p.Ala3885=) c.11430A>T (p.Ala3810=) c.9429A>T (p.Ala3143=) c.8658A>T (p.Ala2886=) c.6030A>T (p.Ala2010=) c.5079A>T (p.Ala1693=) | |
15 | g.28141534T>C | CA489234756 | HERC2 | c.11913A>G (p.Ala3971=) c.3624A>G (p.Ala1208=) c.11799A>G (p.Ala3933=) c.11898A>G (p.Ala3966=) c.11655A>G (p.Ala3885=) c.11430A>G (p.Ala3810=) c.9429A>G (p.Ala3143=) c.8658A>G (p.Ala2886=) c.6030A>G (p.Ala2010=) c.5079A>G (p.Ala1693=) | |
15 | g.28141534T>G | CA489234758 | HERC2 | c.11913A>C (p.Ala3971=) c.3624A>C (p.Ala1208=) c.11799A>C (p.Ala3933=) c.11898A>C (p.Ala3966=) c.11655A>C (p.Ala3885=) c.11430A>C (p.Ala3810=) c.9429A>C (p.Ala3143=) c.8658A>C (p.Ala2886=) c.6030A>C (p.Ala2010=) c.5079A>C (p.Ala1693=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141534T= | CA2166479892 | HERC2 | c.11913A= (p.Ala3971=) c.3624A= (p.Ala1208=) c.11799A= (p.Ala3933=) c.11898A= (p.Ala3966=) c.11655A= (p.Ala3885=) c.11430A= (p.Ala3810=) c.9429A= (p.Ala3143=) c.8658A= (p.Ala2886=) c.6030A= (p.Ala2010=) c.5079A= (p.Ala1693=) | |
15 | g.28141535G>A | CA391381344 | HERC2 | c.11912C>T (p.Ala3971Val) c.3623C>T (p.Ala1208Val) c.11798C>T (p.Ala3933Val) c.11897C>T (p.Ala3966Val) c.11654C>T (p.Ala3885Val) c.11429C>T (p.Ala3810Val) c.9428C>T (p.Ala3143Val) c.8657C>T (p.Ala2886Val) c.6029C>T (p.Ala2010Val) c.5078C>T (p.Ala1693Val) | |
15 | g.28141535G>C | CA391381346 | HERC2 | c.11912C>G (p.Ala3971Gly) c.3623C>G (p.Ala1208Gly) c.11798C>G (p.Ala3933Gly) c.11897C>G (p.Ala3966Gly) c.11654C>G (p.Ala3885Gly) c.11429C>G (p.Ala3810Gly) c.9428C>G (p.Ala3143Gly) c.8657C>G (p.Ala2886Gly) c.6029C>G (p.Ala2010Gly) c.5078C>G (p.Ala1693Gly) | gnomAD v4 |
15 | g.28141535G>T | CA391381348 | HERC2 | c.11912C>A (p.Ala3971Glu) c.3623C>A (p.Ala1208Glu) c.11798C>A (p.Ala3933Glu) c.11897C>A (p.Ala3966Glu) c.11654C>A (p.Ala3885Glu) c.11429C>A (p.Ala3810Glu) c.9428C>A (p.Ala3143Glu) c.8657C>A (p.Ala2886Glu) c.6029C>A (p.Ala2010Glu) c.5078C>A (p.Ala1693Glu) | |
15 | g.28141536C>A | CA391381350 | HERC2 | c.11911G>T (p.Ala3971Ser) c.3622G>T (p.Ala1208Ser) c.11797G>T (p.Ala3933Ser) c.11896G>T (p.Ala3966Ser) c.11653G>T (p.Ala3885Ser) c.11428G>T (p.Ala3810Ser) c.9427G>T (p.Ala3143Ser) c.8656G>T (p.Ala2886Ser) c.6028G>T (p.Ala2010Ser) c.5077G>T (p.Ala1693Ser) | gnomAD v4 |
15 | g.28141536C= | CA2166479896 | HERC2 | c.11911G= (p.Ala3971=) c.3622G= (p.Ala1208=) c.11797G= (p.Ala3933=) c.11896G= (p.Ala3966=) c.11653G= (p.Ala3885=) c.11428G= (p.Ala3810=) c.9427G= (p.Ala3143=) c.8656G= (p.Ala2886=) c.6028G= (p.Ala2010=) c.5077G= (p.Ala1693=) | |
15 | g.28141536C>G | CA391381351 | HERC2 | c.11911G>C (p.Ala3971Pro) c.3622G>C (p.Ala1208Pro) c.11797G>C (p.Ala3933Pro) c.11896G>C (p.Ala3966Pro) c.11653G>C (p.Ala3885Pro) c.11428G>C (p.Ala3810Pro) c.9427G>C (p.Ala3143Pro) c.8656G>C (p.Ala2886Pro) c.6028G>C (p.Ala2010Pro) c.5077G>C (p.Ala1693Pro) | |
15 | g.28141536C>T | CA7440433 | HERC2 | c.11911G>A (p.Ala3971Thr) c.3622G>A (p.Ala1208Thr) c.11797G>A (p.Ala3933Thr) c.11896G>A (p.Ala3966Thr) c.11653G>A (p.Ala3885Thr) c.11428G>A (p.Ala3810Thr) c.9427G>A (p.Ala3143Thr) c.8656G>A (p.Ala2886Thr) c.6028G>A (p.Ala2010Thr) c.5077G>A (p.Ala1693Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141537G>A | CA267946100 | HERC2 | c.11910C>T (p.Gly3970=) c.3621C>T (p.Gly1207=) c.11796C>T (p.Gly3932=) c.11895C>T (p.Gly3965=) c.11652C>T (p.Gly3884=) c.11427C>T (p.Gly3809=) c.9426C>T (p.Gly3142=) c.8655C>T (p.Gly2885=) c.6027C>T (p.Gly2009=) c.5076C>T (p.Gly1692=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141537G>C | CA489234761 | HERC2 | c.11910C>G (p.Gly3970=) c.3621C>G (p.Gly1207=) c.11796C>G (p.Gly3932=) c.11895C>G (p.Gly3965=) c.11652C>G (p.Gly3884=) c.11427C>G (p.Gly3809=) c.9426C>G (p.Gly3142=) c.8655C>G (p.Gly2885=) c.6027C>G (p.Gly2009=) c.5076C>G (p.Gly1692=) | gnomAD v4 |
15 | g.28141537G= | CA2166479899 | HERC2 | c.11910C= (p.Gly3970=) c.3621C= (p.Gly1207=) c.11796C= (p.Gly3932=) c.11895C= (p.Gly3965=) c.11652C= (p.Gly3884=) c.11427C= (p.Gly3809=) c.9426C= (p.Gly3142=) c.8655C= (p.Gly2885=) c.6027C= (p.Gly2009=) c.5076C= (p.Gly1692=) | |
15 | g.28141537G>T | CA7440434 | HERC2 | c.11910C>A (p.Gly3970=) c.3621C>A (p.Gly1207=) c.11796C>A (p.Gly3932=) c.11895C>A (p.Gly3965=) c.11652C>A (p.Gly3884=) c.11427C>A (p.Gly3809=) c.9426C>A (p.Gly3142=) c.8655C>A (p.Gly2885=) c.6027C>A (p.Gly2009=) c.5076C>A (p.Gly1692=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141538C>A | CA391381360 | HERC2 | c.11909G>T (p.Gly3970Val) c.3620G>T (p.Gly1207Val) c.11795G>T (p.Gly3932Val) c.11894G>T (p.Gly3965Val) c.11651G>T (p.Gly3884Val) c.11426G>T (p.Gly3809Val) c.9425G>T (p.Gly3142Val) c.8654G>T (p.Gly2885Val) c.6026G>T (p.Gly2009Val) c.5075G>T (p.Gly1692Val) | |
15 | g.28141538C>G | CA391381362 | HERC2 | c.11909G>C (p.Gly3970Ala) c.3620G>C (p.Gly1207Ala) c.11795G>C (p.Gly3932Ala) c.11894G>C (p.Gly3965Ala) c.11651G>C (p.Gly3884Ala) c.11426G>C (p.Gly3809Ala) c.9425G>C (p.Gly3142Ala) c.8654G>C (p.Gly2885Ala) c.6026G>C (p.Gly2009Ala) c.5075G>C (p.Gly1692Ala) | |
15 | g.28141538C>T | CA391381355 | HERC2 | c.11909G>A (p.Gly3970Asp) c.3620G>A (p.Gly1207Asp) c.11795G>A (p.Gly3932Asp) c.11894G>A (p.Gly3965Asp) c.11651G>A (p.Gly3884Asp) c.11426G>A (p.Gly3809Asp) c.9425G>A (p.Gly3142Asp) c.8654G>A (p.Gly2885Asp) c.6026G>A (p.Gly2009Asp) c.5075G>A (p.Gly1692Asp) | |
15 | g.28141539C>A | CA391381368 | HERC2 | c.11908G>T (p.Gly3970Cys) c.3619G>T (p.Gly1207Cys) c.11794G>T (p.Gly3932Cys) c.11893G>T (p.Gly3965Cys) c.11650G>T (p.Gly3884Cys) c.11425G>T (p.Gly3809Cys) c.9424G>T (p.Gly3142Cys) c.8653G>T (p.Gly2885Cys) c.6025G>T (p.Gly2009Cys) c.5074G>T (p.Gly1692Cys) | |
15 | g.28141539C>G | CA391381365 | HERC2 | c.11908G>C (p.Gly3970Arg) c.3619G>C (p.Gly1207Arg) c.11794G>C (p.Gly3932Arg) c.11893G>C (p.Gly3965Arg) c.11650G>C (p.Gly3884Arg) c.11425G>C (p.Gly3809Arg) c.9424G>C (p.Gly3142Arg) c.8653G>C (p.Gly2885Arg) c.6025G>C (p.Gly2009Arg) c.5074G>C (p.Gly1692Arg) | |
15 | g.28141539C>T | CA391381367 | HERC2 | c.11908G>A (p.Gly3970Ser) c.3619G>A (p.Gly1207Ser) c.11794G>A (p.Gly3932Ser) c.11893G>A (p.Gly3965Ser) c.11650G>A (p.Gly3884Ser) c.11425G>A (p.Gly3809Ser) c.9424G>A (p.Gly3142Ser) c.8653G>A (p.Gly2885Ser) c.6025G>A (p.Gly2009Ser) c.5074G>A (p.Gly1692Ser) | gnomAD v4 |
15 | g.28141540T>A | CA391381371 | HERC2 | c.11907A>T (p.Glu3969Asp) c.3618A>T (p.Glu1206Asp) c.11793A>T (p.Glu3931Asp) c.11892A>T (p.Glu3964Asp) c.11649A>T (p.Glu3883Asp) c.11424A>T (p.Glu3808Asp) c.9423A>T (p.Glu3141Asp) c.8652A>T (p.Glu2884Asp) c.6024A>T (p.Glu2008Asp) c.5073A>T (p.Glu1691Asp) | |
15 | g.28141540T>C | CA489234763 | HERC2 | c.11907A>G (p.Glu3969=) c.3618A>G (p.Glu1206=) c.11793A>G (p.Glu3931=) c.11892A>G (p.Glu3964=) c.11649A>G (p.Glu3883=) c.11424A>G (p.Glu3808=) c.9423A>G (p.Glu3141=) c.8652A>G (p.Glu2884=) c.6024A>G (p.Glu2008=) c.5073A>G (p.Glu1691=) | |
15 | g.28141540T>G | CA391381372 | HERC2 | c.11907A>C (p.Glu3969Asp) c.3618A>C (p.Glu1206Asp) c.11793A>C (p.Glu3931Asp) c.11892A>C (p.Glu3964Asp) c.11649A>C (p.Glu3883Asp) c.11424A>C (p.Glu3808Asp) c.9423A>C (p.Glu3141Asp) c.8652A>C (p.Glu2884Asp) c.6024A>C (p.Glu2008Asp) c.5073A>C (p.Glu1691Asp) | |
15 | g.28141541T>A | CA391381374 | HERC2 | c.11906A>T (p.Glu3969Val) c.3617A>T (p.Glu1206Val) c.11792A>T (p.Glu3931Val) c.11891A>T (p.Glu3964Val) c.11648A>T (p.Glu3883Val) c.11423A>T (p.Glu3808Val) c.9422A>T (p.Glu3141Val) c.8651A>T (p.Glu2884Val) c.6023A>T (p.Glu2008Val) c.5072A>T (p.Glu1691Val) | |
15 | g.28141541T>C | CA391381375 | HERC2 | c.11906A>G (p.Glu3969Gly) c.3617A>G (p.Glu1206Gly) c.11792A>G (p.Glu3931Gly) c.11891A>G (p.Glu3964Gly) c.11648A>G (p.Glu3883Gly) c.11423A>G (p.Glu3808Gly) c.9422A>G (p.Glu3141Gly) c.8651A>G (p.Glu2884Gly) c.6023A>G (p.Glu2008Gly) c.5072A>G (p.Glu1691Gly) | gnomAD v4 |
15 | g.28141541T>G | CA391381377 | HERC2 | c.11906A>C (p.Glu3969Ala) c.3617A>C (p.Glu1206Ala) c.11792A>C (p.Glu3931Ala) c.11891A>C (p.Glu3964Ala) c.11648A>C (p.Glu3883Ala) c.11423A>C (p.Glu3808Ala) c.9422A>C (p.Glu3141Ala) c.8651A>C (p.Glu2884Ala) c.6023A>C (p.Glu2008Ala) c.5072A>C (p.Glu1691Ala) | |
15 | g.28141542C>A | CA391381379 | HERC2 | c.11905G>T (p.Glu3969Ter) c.3616G>T (p.Glu1206Ter) c.11791G>T (p.Glu3931Ter) c.11890G>T (p.Glu3964Ter) c.11647G>T (p.Glu3883Ter) c.11422G>T (p.Glu3808Ter) c.9421G>T (p.Glu3141Ter) c.8650G>T (p.Glu2884Ter) c.6022G>T (p.Glu2008Ter) c.5071G>T (p.Glu1691Ter) | |
15 | g.28141542C>G | CA391381382 | HERC2 | c.11905G>C (p.Glu3969Gln) c.3616G>C (p.Glu1206Gln) c.11791G>C (p.Glu3931Gln) c.11890G>C (p.Glu3964Gln) c.11647G>C (p.Glu3883Gln) c.11422G>C (p.Glu3808Gln) c.9421G>C (p.Glu3141Gln) c.8650G>C (p.Glu2884Gln) c.6022G>C (p.Glu2008Gln) c.5071G>C (p.Glu1691Gln) | |
15 | g.28141542C>T | CA391381380 | HERC2 | c.11905G>A (p.Glu3969Lys) c.3616G>A (p.Glu1206Lys) c.11791G>A (p.Glu3931Lys) c.11890G>A (p.Glu3964Lys) c.11647G>A (p.Glu3883Lys) c.11422G>A (p.Glu3808Lys) c.9421G>A (p.Glu3141Lys) c.8650G>A (p.Glu2884Lys) c.6022G>A (p.Glu2008Lys) c.5071G>A (p.Glu1691Lys) | |
15 | g.28141543A>C | CA391381384 | HERC2 | c.11904T>G (p.Ile3968Met) c.3615T>G (p.Ile1205Met) c.11790T>G (p.Ile3930Met) c.11889T>G (p.Ile3963Met) c.11646T>G (p.Ile3882Met) c.11421T>G (p.Ile3807Met) c.9420T>G (p.Ile3140Met) c.8649T>G (p.Ile2883Met) c.6021T>G (p.Ile2007Met) c.5070T>G (p.Ile1690Met) | |
15 | g.28141543A>G | CA489234765 | HERC2 | c.11904T>C (p.Ile3968=) c.3615T>C (p.Ile1205=) c.11790T>C (p.Ile3930=) c.11889T>C (p.Ile3963=) c.11646T>C (p.Ile3882=) c.11421T>C (p.Ile3807=) c.9420T>C (p.Ile3140=) c.8649T>C (p.Ile2883=) c.6021T>C (p.Ile2007=) c.5070T>C (p.Ile1690=) | gnomAD v4 |
15 | g.28141543A>T | CA489234764 | HERC2 | c.11904T>A (p.Ile3968=) c.3615T>A (p.Ile1205=) c.11790T>A (p.Ile3930=) c.11889T>A (p.Ile3963=) c.11646T>A (p.Ile3882=) c.11421T>A (p.Ile3807=) c.9420T>A (p.Ile3140=) c.8649T>A (p.Ile2883=) c.6021T>A (p.Ile2007=) c.5070T>A (p.Ile1690=) | |
15 | g.28141544A= | CA2166479902 | HERC2 | c.11903T= (p.Ile3968=) c.3614T= (p.Ile1205=) c.11789T= (p.Ile3930=) c.11888T= (p.Ile3963=) c.11645T= (p.Ile3882=) c.11420T= (p.Ile3807=) c.9419T= (p.Ile3140=) c.8648T= (p.Ile2883=) c.6020T= (p.Ile2007=) c.5069T= (p.Ile1690=) | |
15 | g.28141544A>C | CA391381386 | HERC2 | c.11903T>G (p.Ile3968Ser) c.3614T>G (p.Ile1205Ser) c.11789T>G (p.Ile3930Ser) c.11888T>G (p.Ile3963Ser) c.11645T>G (p.Ile3882Ser) c.11420T>G (p.Ile3807Ser) c.9419T>G (p.Ile3140Ser) c.8648T>G (p.Ile2883Ser) c.6020T>G (p.Ile2007Ser) c.5069T>G (p.Ile1690Ser) | |
15 | g.28141544A>G | CA391381388 | HERC2 | c.11903T>C (p.Ile3968Thr) c.3614T>C (p.Ile1205Thr) c.11789T>C (p.Ile3930Thr) c.11888T>C (p.Ile3963Thr) c.11645T>C (p.Ile3882Thr) c.11420T>C (p.Ile3807Thr) c.9419T>C (p.Ile3140Thr) c.8648T>C (p.Ile2883Thr) c.6020T>C (p.Ile2007Thr) c.5069T>C (p.Ile1690Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141544A>T | CA391381390 | HERC2 | c.11903T>A (p.Ile3968Asn) c.3614T>A (p.Ile1205Asn) c.11789T>A (p.Ile3930Asn) c.11888T>A (p.Ile3963Asn) c.11645T>A (p.Ile3882Asn) c.11420T>A (p.Ile3807Asn) c.9419T>A (p.Ile3140Asn) c.8648T>A (p.Ile2883Asn) c.6020T>A (p.Ile2007Asn) c.5069T>A (p.Ile1690Asn) | |
15 | g.28141545T>A | CA391381392 | HERC2 | c.11902A>T (p.Ile3968Phe) c.3613A>T (p.Ile1205Phe) c.11788A>T (p.Ile3930Phe) c.11887A>T (p.Ile3963Phe) c.11644A>T (p.Ile3882Phe) c.11419A>T (p.Ile3807Phe) c.9418A>T (p.Ile3140Phe) c.8647A>T (p.Ile2883Phe) c.6019A>T (p.Ile2007Phe) c.5068A>T (p.Ile1690Phe) | |
15 | g.28141545T>C | CA391381395 | HERC2 | c.11902A>G (p.Ile3968Val) c.3613A>G (p.Ile1205Val) c.11788A>G (p.Ile3930Val) c.11887A>G (p.Ile3963Val) c.11644A>G (p.Ile3882Val) c.11419A>G (p.Ile3807Val) c.9418A>G (p.Ile3140Val) c.8647A>G (p.Ile2883Val) c.6019A>G (p.Ile2007Val) c.5068A>G (p.Ile1690Val) | gnomAD v4 |
15 | g.28141545T>G | CA391381394 | HERC2 | c.11902A>C (p.Ile3968Leu) c.3613A>C (p.Ile1205Leu) c.11788A>C (p.Ile3930Leu) c.11887A>C (p.Ile3963Leu) c.11644A>C (p.Ile3882Leu) c.11419A>C (p.Ile3807Leu) c.9418A>C (p.Ile3140Leu) c.8647A>C (p.Ile2883Leu) c.6019A>C (p.Ile2007Leu) c.5068A>C (p.Ile1690Leu) | gnomAD v4 |
15 | g.28141546G>A | CA489234766 | HERC2 | c.11901C>T (p.Gly3967=) c.3612C>T (p.Gly1204=) c.11787C>T (p.Gly3929=) c.11886C>T (p.Gly3962=) c.11643C>T (p.Gly3881=) c.11418C>T (p.Gly3806=) c.9417C>T (p.Gly3139=) c.8646C>T (p.Gly2882=) c.6018C>T (p.Gly2006=) c.5067C>T (p.Gly1689=) | |
15 | g.28141546G>C | CA489234767 | HERC2 | c.11901C>G (p.Gly3967=) c.3612C>G (p.Gly1204=) c.11787C>G (p.Gly3929=) c.11886C>G (p.Gly3962=) c.11643C>G (p.Gly3881=) c.11418C>G (p.Gly3806=) c.9417C>G (p.Gly3139=) c.8646C>G (p.Gly2882=) c.6018C>G (p.Gly2006=) c.5067C>G (p.Gly1689=) | |
15 | g.28141546G>T | CA489234768 | HERC2 | c.11901C>A (p.Gly3967=) c.3612C>A (p.Gly1204=) c.11787C>A (p.Gly3929=) c.11886C>A (p.Gly3962=) c.11643C>A (p.Gly3881=) c.11418C>A (p.Gly3806=) c.9417C>A (p.Gly3139=) c.8646C>A (p.Gly2882=) c.6018C>A (p.Gly2006=) c.5067C>A (p.Gly1689=) | |
15 | g.28141547C>A | CA391381397 | HERC2 | c.11900G>T (p.Gly3967Val) c.3611G>T (p.Gly1204Val) c.11786G>T (p.Gly3929Val) c.11885G>T (p.Gly3962Val) c.11642G>T (p.Gly3881Val) c.11417G>T (p.Gly3806Val) c.9416G>T (p.Gly3139Val) c.8645G>T (p.Gly2882Val) c.6017G>T (p.Gly2006Val) c.5066G>T (p.Gly1689Val) | |
15 | g.28141547C= | CA2166479904 | HERC2 | c.11900G= (p.Gly3967=) c.3611G= (p.Gly1204=) c.11786G= (p.Gly3929=) c.11885G= (p.Gly3962=) c.11642G= (p.Gly3881=) c.11417G= (p.Gly3806=) c.9416G= (p.Gly3139=) c.8645G= (p.Gly2882=) c.6017G= (p.Gly2006=) c.5066G= (p.Gly1689=) | |
15 | g.28141547C>G | CA391381399 | HERC2 | c.11900G>C (p.Gly3967Ala) c.3611G>C (p.Gly1204Ala) c.11786G>C (p.Gly3929Ala) c.11885G>C (p.Gly3962Ala) c.11642G>C (p.Gly3881Ala) c.11417G>C (p.Gly3806Ala) c.9416G>C (p.Gly3139Ala) c.8645G>C (p.Gly2882Ala) c.6017G>C (p.Gly2006Ala) c.5066G>C (p.Gly1689Ala) | |
15 | g.28141547C>T | CA391381400 | HERC2 | c.11900G>A (p.Gly3967Asp) c.3611G>A (p.Gly1204Asp) c.11786G>A (p.Gly3929Asp) c.11885G>A (p.Gly3962Asp) c.11642G>A (p.Gly3881Asp) c.11417G>A (p.Gly3806Asp) c.9416G>A (p.Gly3139Asp) c.8645G>A (p.Gly2882Asp) c.6017G>A (p.Gly2006Asp) c.5066G>A (p.Gly1689Asp) | dbSNP gnomAD v4 |
15 | g.28141551dup | CA2832567145 | HERC2 | c.11900dup (p.Ile3968HisfsTer2) c.3611dup (p.Ile1205HisfsTer2) c.11786dup (p.Ile3930HisfsTer2) c.11885dup (p.Ile3963HisfsTer2) c.11642dup (p.Ile3882HisfsTer2) c.11417dup (p.Ile3807HisfsTer2) c.9416dup (p.Ile3140HisfsTer2) c.8645dup (p.Ile2883HisfsTer2) c.6017dup (p.Ile2007HisfsTer2) c.5066dup (p.Ile1690HisfsTer2) | |
15 | g.28141551del | CA2575653880 | HERC2 | c.11900del (p.Gly3967AlafsTer24) c.3611del (p.Gly1204AlafsTer24) c.11786del (p.Gly3929AlafsTer24) c.11885del (p.Gly3962AlafsTer24) c.11642del (p.Gly3881AlafsTer24) c.11417del (p.Gly3806AlafsTer24) c.9416del (p.Gly3139AlafsTer24) c.8645del (p.Gly2882AlafsTer24) c.6017del (p.Gly2006AlafsTer24) c.5066del (p.Gly1689AlafsTer24) | |
15 | g.28141548C>A | CA391381401 | HERC2 | c.11899G>T (p.Gly3967Cys) c.3610G>T (p.Gly1204Cys) c.11785G>T (p.Gly3929Cys) c.11884G>T (p.Gly3962Cys) c.11641G>T (p.Gly3881Cys) c.11416G>T (p.Gly3806Cys) c.9415G>T (p.Gly3139Cys) c.8644G>T (p.Gly2882Cys) c.6016G>T (p.Gly2006Cys) c.5065G>T (p.Gly1689Cys) | |
15 | g.28141548C>G | CA391381402 | HERC2 | c.11899G>C (p.Gly3967Arg) c.3610G>C (p.Gly1204Arg) c.11785G>C (p.Gly3929Arg) c.11884G>C (p.Gly3962Arg) c.11641G>C (p.Gly3881Arg) c.11416G>C (p.Gly3806Arg) c.9415G>C (p.Gly3139Arg) c.8644G>C (p.Gly2882Arg) c.6016G>C (p.Gly2006Arg) c.5065G>C (p.Gly1689Arg) | COSMIC COSMIC |
15 | g.28141548C>T | CA391381404 | HERC2 | c.11899G>A (p.Gly3967Ser) c.3610G>A (p.Gly1204Ser) c.11785G>A (p.Gly3929Ser) c.11884G>A (p.Gly3962Ser) c.11641G>A (p.Gly3881Ser) c.11416G>A (p.Gly3806Ser) c.9415G>A (p.Gly3139Ser) c.8644G>A (p.Gly2882Ser) c.6016G>A (p.Gly2006Ser) c.5065G>A (p.Gly1689Ser) | |
15 | g.28141549C>A | CA489234769 | HERC2 | c.11898G>T (p.Gly3966=) c.3609G>T (p.Gly1203=) c.11784G>T (p.Gly3928=) c.11883G>T (p.Gly3961=) c.11640G>T (p.Gly3880=) c.11415G>T (p.Gly3805=) c.9414G>T (p.Gly3138=) c.8643G>T (p.Gly2881=) c.6015G>T (p.Gly2005=) c.5064G>T (p.Gly1688=) | |
15 | g.28141549C= | CA2166479906 | HERC2 | c.11898G= (p.Gly3966=) c.3609G= (p.Gly1203=) c.11784G= (p.Gly3928=) c.11883G= (p.Gly3961=) c.11640G= (p.Gly3880=) c.11415G= (p.Gly3805=) c.9414G= (p.Gly3138=) c.8643G= (p.Gly2881=) c.6015G= (p.Gly2005=) c.5064G= (p.Gly1688=) | |
15 | g.28141549C>G | CA489234770 | HERC2 | c.11898G>C (p.Gly3966=) c.3609G>C (p.Gly1203=) c.11784G>C (p.Gly3928=) c.11883G>C (p.Gly3961=) c.11640G>C (p.Gly3880=) c.11415G>C (p.Gly3805=) c.9414G>C (p.Gly3138=) c.8643G>C (p.Gly2881=) c.6015G>C (p.Gly2005=) c.5064G>C (p.Gly1688=) | |
15 | g.28141549C>T | CA489234771 | HERC2 | c.11898G>A (p.Gly3966=) c.3609G>A (p.Gly1203=) c.11784G>A (p.Gly3928=) c.11883G>A (p.Gly3961=) c.11640G>A (p.Gly3880=) c.11415G>A (p.Gly3805=) c.9414G>A (p.Gly3138=) c.8643G>A (p.Gly2881=) c.6015G>A (p.Gly2005=) c.5064G>A (p.Gly1688=) | dbSNP gnomAD v4 |
15 | g.28141550C>A | CA391381406 | HERC2 | c.11897G>T (p.Gly3966Val) c.3608G>T (p.Gly1203Val) c.11783G>T (p.Gly3928Val) c.11882G>T (p.Gly3961Val) c.11639G>T (p.Gly3880Val) c.11414G>T (p.Gly3805Val) c.9413G>T (p.Gly3138Val) c.8642G>T (p.Gly2881Val) c.6014G>T (p.Gly2005Val) c.5063G>T (p.Gly1688Val) | |
15 | g.28141550C>G | CA391381408 | HERC2 | c.11897G>C (p.Gly3966Ala) c.3608G>C (p.Gly1203Ala) c.11783G>C (p.Gly3928Ala) c.11882G>C (p.Gly3961Ala) c.11639G>C (p.Gly3880Ala) c.11414G>C (p.Gly3805Ala) c.9413G>C (p.Gly3138Ala) c.8642G>C (p.Gly2881Ala) c.6014G>C (p.Gly2005Ala) c.5063G>C (p.Gly1688Ala) | |
15 | g.28141550C>T | CA391381410 | HERC2 | c.11897G>A (p.Gly3966Glu) c.3608G>A (p.Gly1203Glu) c.11783G>A (p.Gly3928Glu) c.11882G>A (p.Gly3961Glu) c.11639G>A (p.Gly3880Glu) c.11414G>A (p.Gly3805Glu) c.9413G>A (p.Gly3138Glu) c.8642G>A (p.Gly2881Glu) c.6014G>A (p.Gly2005Glu) c.5063G>A (p.Gly1688Glu) | |
15 | g.28141551C>A | CA391381412 | HERC2 | c.11896G>T (p.Gly3966Trp) c.3607G>T (p.Gly1203Trp) c.11782G>T (p.Gly3928Trp) c.11881G>T (p.Gly3961Trp) c.11638G>T (p.Gly3880Trp) c.11413G>T (p.Gly3805Trp) c.9412G>T (p.Gly3138Trp) c.8641G>T (p.Gly2881Trp) c.6013G>T (p.Gly2005Trp) c.5062G>T (p.Gly1688Trp) | |
15 | g.28141551C= | CA2166479909 | HERC2 | c.11896G= (p.Gly3966=) c.3607G= (p.Gly1203=) c.11782G= (p.Gly3928=) c.11881G= (p.Gly3961=) c.11638G= (p.Gly3880=) c.11413G= (p.Gly3805=) c.9412G= (p.Gly3138=) c.8641G= (p.Gly2881=) c.6013G= (p.Gly2005=) c.5062G= (p.Gly1688=) | |
15 | g.28141551C>G | CA391381413 | HERC2 | c.11896G>C (p.Gly3966Arg) c.3607G>C (p.Gly1203Arg) c.11782G>C (p.Gly3928Arg) c.11881G>C (p.Gly3961Arg) c.11638G>C (p.Gly3880Arg) c.11413G>C (p.Gly3805Arg) c.9412G>C (p.Gly3138Arg) c.8641G>C (p.Gly2881Arg) c.6013G>C (p.Gly2005Arg) c.5062G>C (p.Gly1688Arg) | |
15 | g.28141551C>T | CA391381415 | HERC2 | c.11896G>A (p.Gly3966Arg) c.3607G>A (p.Gly1203Arg) c.11782G>A (p.Gly3928Arg) c.11881G>A (p.Gly3961Arg) c.11638G>A (p.Gly3880Arg) c.11413G>A (p.Gly3805Arg) c.9412G>A (p.Gly3138Arg) c.8641G>A (p.Gly2881Arg) c.6013G>A (p.Gly2005Arg) c.5062G>A (p.Gly1688Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141552G>A | CA7440435 | HERC2 | c.11895C>T (p.Leu3965=) c.3606C>T (p.Leu1202=) c.11781C>T (p.Leu3927=) c.11880C>T (p.Leu3960=) c.11637C>T (p.Leu3879=) c.11412C>T (p.Leu3804=) c.9411C>T (p.Leu3137=) c.8640C>T (p.Leu2880=) c.6012C>T (p.Leu2004=) c.5061C>T (p.Leu1687=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141552G>C | CA489234772 | HERC2 | c.11895C>G (p.Leu3965=) c.3606C>G (p.Leu1202=) c.11781C>G (p.Leu3927=) c.11880C>G (p.Leu3960=) c.11637C>G (p.Leu3879=) c.11412C>G (p.Leu3804=) c.9411C>G (p.Leu3137=) c.8640C>G (p.Leu2880=) c.6012C>G (p.Leu2004=) c.5061C>G (p.Leu1687=) | |
15 | g.28141552G= | CA2166479911 | HERC2 | c.11895C= (p.Leu3965=) c.3606C= (p.Leu1202=) c.11781C= (p.Leu3927=) c.11880C= (p.Leu3960=) c.11637C= (p.Leu3879=) c.11412C= (p.Leu3804=) c.9411C= (p.Leu3137=) c.8640C= (p.Leu2880=) c.6012C= (p.Leu2004=) c.5061C= (p.Leu1687=) | |
15 | g.28141552G>T | CA489234773 | HERC2 | c.11895C>A (p.Leu3965=) c.3606C>A (p.Leu1202=) c.11781C>A (p.Leu3927=) c.11880C>A (p.Leu3960=) c.11637C>A (p.Leu3879=) c.11412C>A (p.Leu3804=) c.9411C>A (p.Leu3137=) c.8640C>A (p.Leu2880=) c.6012C>A (p.Leu2004=) c.5061C>A (p.Leu1687=) | |
15 | g.28141553A>C | CA391381421 | HERC2 | c.11894T>G (p.Leu3965Arg) c.3605T>G (p.Leu1202Arg) c.11780T>G (p.Leu3927Arg) c.11879T>G (p.Leu3960Arg) c.11636T>G (p.Leu3879Arg) c.11411T>G (p.Leu3804Arg) c.9410T>G (p.Leu3137Arg) c.8639T>G (p.Leu2880Arg) c.6011T>G (p.Leu2004Arg) c.5060T>G (p.Leu1687Arg) | |
15 | g.28141553A>G | CA391381418 | HERC2 | c.11894T>C (p.Leu3965Pro) c.3605T>C (p.Leu1202Pro) c.11780T>C (p.Leu3927Pro) c.11879T>C (p.Leu3960Pro) c.11636T>C (p.Leu3879Pro) c.11411T>C (p.Leu3804Pro) c.9410T>C (p.Leu3137Pro) c.8639T>C (p.Leu2880Pro) c.6011T>C (p.Leu2004Pro) c.5060T>C (p.Leu1687Pro) | |
15 | g.28141553A>T | CA391381419 | HERC2 | c.11894T>A (p.Leu3965His) c.3605T>A (p.Leu1202His) c.11780T>A (p.Leu3927His) c.11879T>A (p.Leu3960His) c.11636T>A (p.Leu3879His) c.11411T>A (p.Leu3804His) c.9410T>A (p.Leu3137His) c.8639T>A (p.Leu2880His) c.6011T>A (p.Leu2004His) c.5060T>A (p.Leu1687His) | |
15 | g.28141554G>A | CA391381423 | HERC2 | c.11893C>T (p.Leu3965Phe) c.3604C>T (p.Leu1202Phe) c.11779C>T (p.Leu3927Phe) c.11878C>T (p.Leu3960Phe) c.11635C>T (p.Leu3879Phe) c.11410C>T (p.Leu3804Phe) c.9409C>T (p.Leu3137Phe) c.8638C>T (p.Leu2880Phe) c.6010C>T (p.Leu2004Phe) c.5059C>T (p.Leu1687Phe) | gnomAD v4 |
15 | g.28141554G>C | CA391381425 | HERC2 | c.11893C>G (p.Leu3965Val) c.3604C>G (p.Leu1202Val) c.11779C>G (p.Leu3927Val) c.11878C>G (p.Leu3960Val) c.11635C>G (p.Leu3879Val) c.11410C>G (p.Leu3804Val) c.9409C>G (p.Leu3137Val) c.8638C>G (p.Leu2880Val) c.6010C>G (p.Leu2004Val) c.5059C>G (p.Leu1687Val) | |
15 | g.28141554G>T | CA391381426 | HERC2 | c.11893C>A (p.Leu3965Ile) c.3604C>A (p.Leu1202Ile) c.11779C>A (p.Leu3927Ile) c.11878C>A (p.Leu3960Ile) c.11635C>A (p.Leu3879Ile) c.11410C>A (p.Leu3804Ile) c.9409C>A (p.Leu3137Ile) c.8638C>A (p.Leu2880Ile) c.6010C>A (p.Leu2004Ile) c.5059C>A (p.Leu1687Ile) | |
15 | g.28141555C>A | CA391381428 | HERC2 | c.11892G>T (p.Gln3964His) c.3603G>T (p.Gln1201His) c.11778G>T (p.Gln3926His) c.11877G>T (p.Gln3959His) c.11634G>T (p.Gln3878His) c.11409G>T (p.Gln3803His) c.9408G>T (p.Gln3136His) c.8637G>T (p.Gln2879His) c.6009G>T (p.Gln2003His) c.5058G>T (p.Gln1686His) | gnomAD v4 |
15 | g.28141555C>G | CA391381429 | HERC2 | c.11892G>C (p.Gln3964His) c.3603G>C (p.Gln1201His) c.11778G>C (p.Gln3926His) c.11877G>C (p.Gln3959His) c.11634G>C (p.Gln3878His) c.11409G>C (p.Gln3803His) c.9408G>C (p.Gln3136His) c.8637G>C (p.Gln2879His) c.6009G>C (p.Gln2003His) c.5058G>C (p.Gln1686His) | |
15 | g.28141555C>T | CA489234774 | HERC2 | c.11892G>A (p.Gln3964=) c.3603G>A (p.Gln1201=) c.11778G>A (p.Gln3926=) c.11877G>A (p.Gln3959=) c.11634G>A (p.Gln3878=) c.11409G>A (p.Gln3803=) c.9408G>A (p.Gln3136=) c.8637G>A (p.Gln2879=) c.6009G>A (p.Gln2003=) c.5058G>A (p.Gln1686=) | |
15 | g.28141556T>A | CA267946113 | HERC2 | c.11891A>T (p.Gln3964Leu) c.3602A>T (p.Gln1201Leu) c.11777A>T (p.Gln3926Leu) c.11876A>T (p.Gln3959Leu) c.11633A>T (p.Gln3878Leu) c.11408A>T (p.Gln3803Leu) c.9407A>T (p.Gln3136Leu) c.8636A>T (p.Gln2879Leu) c.6008A>T (p.Gln2003Leu) c.5057A>T (p.Gln1686Leu) | dbSNP |
15 | g.28141556T>C | CA391381432 | HERC2 | c.11891A>G (p.Gln3964Arg) c.3602A>G (p.Gln1201Arg) c.11777A>G (p.Gln3926Arg) c.11876A>G (p.Gln3959Arg) c.11633A>G (p.Gln3878Arg) c.11408A>G (p.Gln3803Arg) c.9407A>G (p.Gln3136Arg) c.8636A>G (p.Gln2879Arg) c.6008A>G (p.Gln2003Arg) c.5057A>G (p.Gln1686Arg) | |
15 | g.28141556T>G | CA391381433 | HERC2 | c.11891A>C (p.Gln3964Pro) c.3602A>C (p.Gln1201Pro) c.11777A>C (p.Gln3926Pro) c.11876A>C (p.Gln3959Pro) c.11633A>C (p.Gln3878Pro) c.11408A>C (p.Gln3803Pro) c.9407A>C (p.Gln3136Pro) c.8636A>C (p.Gln2879Pro) c.6008A>C (p.Gln2003Pro) c.5057A>C (p.Gln1686Pro) | |
15 | g.28141556T= | CA2166479915 | HERC2 | c.11891A= (p.Gln3964=) c.3602A= (p.Gln1201=) c.11777A= (p.Gln3926=) c.11876A= (p.Gln3959=) c.11633A= (p.Gln3878=) c.11408A= (p.Gln3803=) c.9407A= (p.Gln3136=) c.8636A= (p.Gln2879=) c.6008A= (p.Gln2003=) c.5057A= (p.Gln1686=) | |
15 | g.28141557G>A | CA391381435 | HERC2 | c.11890C>T (p.Gln3964Ter) c.3601C>T (p.Gln1201Ter) c.11776C>T (p.Gln3926Ter) c.11875C>T (p.Gln3959Ter) c.11632C>T (p.Gln3878Ter) c.11407C>T (p.Gln3803Ter) c.9406C>T (p.Gln3136Ter) c.8635C>T (p.Gln2879Ter) c.6007C>T (p.Gln2003Ter) c.5056C>T (p.Gln1686Ter) | |
15 | g.28141557G>C | CA391381436 | HERC2 | c.11890C>G (p.Gln3964Glu) c.3601C>G (p.Gln1201Glu) c.11776C>G (p.Gln3926Glu) c.11875C>G (p.Gln3959Glu) c.11632C>G (p.Gln3878Glu) c.11407C>G (p.Gln3803Glu) c.9406C>G (p.Gln3136Glu) c.8635C>G (p.Gln2879Glu) c.6007C>G (p.Gln2003Glu) c.5056C>G (p.Gln1686Glu) | |
15 | g.28141557G>T | CA391381437 | HERC2 | c.11890C>A (p.Gln3964Lys) c.3601C>A (p.Gln1201Lys) c.11776C>A (p.Gln3926Lys) c.11875C>A (p.Gln3959Lys) c.11632C>A (p.Gln3878Lys) c.11407C>A (p.Gln3803Lys) c.9406C>A (p.Gln3136Lys) c.8635C>A (p.Gln2879Lys) c.6007C>A (p.Gln2003Lys) c.5056C>A (p.Gln1686Lys) | |
15 | g.28141558G>A | CA489234776 | HERC2 | c.11889C>T (p.Gly3963=) c.3600C>T (p.Gly1200=) c.11775C>T (p.Gly3925=) c.11874C>T (p.Gly3958=) c.11631C>T (p.Gly3877=) c.11406C>T (p.Gly3802=) c.9405C>T (p.Gly3135=) c.8634C>T (p.Gly2878=) c.6006C>T (p.Gly2002=) c.5055C>T (p.Gly1685=) | |
15 | g.28141558G>C | CA489234775 | HERC2 | c.11889C>G (p.Gly3963=) c.3600C>G (p.Gly1200=) c.11775C>G (p.Gly3925=) c.11874C>G (p.Gly3958=) c.11631C>G (p.Gly3877=) c.11406C>G (p.Gly3802=) c.9405C>G (p.Gly3135=) c.8634C>G (p.Gly2878=) c.6006C>G (p.Gly2002=) c.5055C>G (p.Gly1685=) | |
15 | g.28141558G>T | CA489234777 | HERC2 | c.11889C>A (p.Gly3963=) c.3600C>A (p.Gly1200=) c.11775C>A (p.Gly3925=) c.11874C>A (p.Gly3958=) c.11631C>A (p.Gly3877=) c.11406C>A (p.Gly3802=) c.9405C>A (p.Gly3135=) c.8634C>A (p.Gly2878=) c.6006C>A (p.Gly2002=) c.5055C>A (p.Gly1685=) | |
15 | g.28141559C>A | CA391381440 | HERC2 | c.11888G>T (p.Gly3963Val) c.3599G>T (p.Gly1200Val) c.11774G>T (p.Gly3925Val) c.11873G>T (p.Gly3958Val) c.11630G>T (p.Gly3877Val) c.11405G>T (p.Gly3802Val) c.9404G>T (p.Gly3135Val) c.8633G>T (p.Gly2878Val) c.6005G>T (p.Gly2002Val) c.5054G>T (p.Gly1685Val) | |
15 | g.28141559C>G | CA391381441 | HERC2 | c.11888G>C (p.Gly3963Ala) c.3599G>C (p.Gly1200Ala) c.11774G>C (p.Gly3925Ala) c.11873G>C (p.Gly3958Ala) c.11630G>C (p.Gly3877Ala) c.11405G>C (p.Gly3802Ala) c.9404G>C (p.Gly3135Ala) c.8633G>C (p.Gly2878Ala) c.6005G>C (p.Gly2002Ala) c.5054G>C (p.Gly1685Ala) | |
15 | g.28141559C>T | CA391381438 | HERC2 | c.11888G>A (p.Gly3963Asp) c.3599G>A (p.Gly1200Asp) c.11774G>A (p.Gly3925Asp) c.11873G>A (p.Gly3958Asp) c.11630G>A (p.Gly3877Asp) c.11405G>A (p.Gly3802Asp) c.9404G>A (p.Gly3135Asp) c.8633G>A (p.Gly2878Asp) c.6005G>A (p.Gly2002Asp) c.5054G>A (p.Gly1685Asp) | |
15 | g.28141560C>A | CA391381443 | HERC2 | c.11887G>T (p.Gly3963Cys) c.3598G>T (p.Gly1200Cys) c.11773G>T (p.Gly3925Cys) c.11872G>T (p.Gly3958Cys) c.11629G>T (p.Gly3877Cys) c.11404G>T (p.Gly3802Cys) c.9403G>T (p.Gly3135Cys) c.8632G>T (p.Gly2878Cys) c.6004G>T (p.Gly2002Cys) c.5053G>T (p.Gly1685Cys) | gnomAD v4 |
15 | g.28141560C>G | CA391381445 | HERC2 | c.11887G>C (p.Gly3963Arg) c.3598G>C (p.Gly1200Arg) c.11773G>C (p.Gly3925Arg) c.11872G>C (p.Gly3958Arg) c.11629G>C (p.Gly3877Arg) c.11404G>C (p.Gly3802Arg) c.9403G>C (p.Gly3135Arg) c.8632G>C (p.Gly2878Arg) c.6004G>C (p.Gly2002Arg) c.5053G>C (p.Gly1685Arg) | |
15 | g.28141560C>T | CA391381446 | HERC2 | c.11887G>A (p.Gly3963Ser) c.3598G>A (p.Gly1200Ser) c.11773G>A (p.Gly3925Ser) c.11872G>A (p.Gly3958Ser) c.11629G>A (p.Gly3877Ser) c.11404G>A (p.Gly3802Ser) c.9403G>A (p.Gly3135Ser) c.8632G>A (p.Gly2878Ser) c.6004G>A (p.Gly2002Ser) c.5053G>A (p.Gly1685Ser) | |
15 | g.28141561C>A | CA391381448 | HERC2 | c.11886G>T (p.Arg3962Ser) c.3597G>T (p.Arg1199Ser) c.11772G>T (p.Arg3924Ser) c.11871G>T (p.Arg3957Ser) c.11628G>T (p.Arg3876Ser) c.11403G>T (p.Arg3801Ser) c.9402G>T (p.Arg3134Ser) c.8631G>T (p.Arg2877Ser) c.6003G>T (p.Arg2001Ser) c.5052G>T (p.Arg1684Ser) | |
15 | g.28141561C= | CA2166479917 | HERC2 | c.11886G= (p.Arg3962=) c.3597G= (p.Arg1199=) c.11772G= (p.Arg3924=) c.11871G= (p.Arg3957=) c.11628G= (p.Arg3876=) c.11403G= (p.Arg3801=) c.9402G= (p.Arg3134=) c.8631G= (p.Arg2877=) c.6003G= (p.Arg2001=) c.5052G= (p.Arg1684=) | |
15 | g.28141561C>G | CA391381450 | HERC2 | c.11886G>C (p.Arg3962Ser) c.3597G>C (p.Arg1199Ser) c.11772G>C (p.Arg3924Ser) c.11871G>C (p.Arg3957Ser) c.11628G>C (p.Arg3876Ser) c.11403G>C (p.Arg3801Ser) c.9402G>C (p.Arg3134Ser) c.8631G>C (p.Arg2877Ser) c.6003G>C (p.Arg2001Ser) c.5052G>C (p.Arg1684Ser) | |
15 | g.28141561C>T | CA489234778 | HERC2 | c.11886G>A (p.Arg3962=) c.3597G>A (p.Arg1199=) c.11772G>A (p.Arg3924=) c.11871G>A (p.Arg3957=) c.11628G>A (p.Arg3876=) c.11403G>A (p.Arg3801=) c.9402G>A (p.Arg3134=) c.8631G>A (p.Arg2877=) c.6003G>A (p.Arg2001=) c.5052G>A (p.Arg1684=) | dbSNP gnomAD v4 |
15 | g.28141561_28141563delinsCCT | CA2166479919 | HERC2 | c.11884_11886delinsAGG (p.Arg3962=) c.3595_3597delinsAGG (p.Arg1199=) c.11770_11772delinsAGG (p.Arg3924=) c.11869_11871delinsAGG (p.Arg3957=) c.11626_11628delinsAGG (p.Arg3876=) c.11401_11403delinsAGG (p.Arg3801=) c.9400_9402delinsAGG (p.Arg3134=) c.8629_8631delinsAGG (p.Arg2877=) c.6001_6003delinsAGG (p.Arg2001=) c.5050_5052delinsAGG (p.Arg1684=) | |
15 | g.28141562C>A | CA391381454 | HERC2 | c.11885G>T (p.Arg3962Met) c.3596G>T (p.Arg1199Met) c.11771G>T (p.Arg3924Met) c.11870G>T (p.Arg3957Met) c.11627G>T (p.Arg3876Met) c.11402G>T (p.Arg3801Met) c.9401G>T (p.Arg3134Met) c.8630G>T (p.Arg2877Met) c.6002G>T (p.Arg2001Met) c.5051G>T (p.Arg1684Met) | |
15 | g.28141562C>G | CA391381452 | HERC2 | c.11885G>C (p.Arg3962Thr) c.3596G>C (p.Arg1199Thr) c.11771G>C (p.Arg3924Thr) c.11870G>C (p.Arg3957Thr) c.11627G>C (p.Arg3876Thr) c.11402G>C (p.Arg3801Thr) c.9401G>C (p.Arg3134Thr) c.8630G>C (p.Arg2877Thr) c.6002G>C (p.Arg2001Thr) c.5051G>C (p.Arg1684Thr) | |
15 | g.28141562C>T | CA391381453 | HERC2 | c.11885G>A (p.Arg3962Lys) c.3596G>A (p.Arg1199Lys) c.11771G>A (p.Arg3924Lys) c.11870G>A (p.Arg3957Lys) c.11627G>A (p.Arg3876Lys) c.11402G>A (p.Arg3801Lys) c.9401G>A (p.Arg3134Lys) c.8630G>A (p.Arg2877Lys) c.6002G>A (p.Arg2001Lys) c.5051G>A (p.Arg1684Lys) | |
15 | g.28141562_28141563del | CA2166479922 | HERC2 | c.11884_11885del (p.Arg3962GlyfsTer7) c.3595_3596del (p.Arg1199GlyfsTer7) c.11770_11771del (p.Arg3924GlyfsTer7) c.11869_11870del (p.Arg3957GlyfsTer7) c.11626_11627del (p.Arg3876GlyfsTer7) c.11401_11402del (p.Arg3801GlyfsTer7) c.9400_9401del (p.Arg3134GlyfsTer7) c.8629_8630del (p.Arg2877GlyfsTer7) c.6001_6002del (p.Arg2001GlyfsTer7) c.5050_5051del (p.Arg1684GlyfsTer7) | dbSNP |
15 | g.28141563T>A | CA391381455 | HERC2 | c.11884A>T (p.Arg3962Trp) c.3595A>T (p.Arg1199Trp) c.11770A>T (p.Arg3924Trp) c.11869A>T (p.Arg3957Trp) c.11626A>T (p.Arg3876Trp) c.11401A>T (p.Arg3801Trp) c.9400A>T (p.Arg3134Trp) c.8629A>T (p.Arg2877Trp) c.6001A>T (p.Arg2001Trp) c.5050A>T (p.Arg1684Trp) | |
15 | g.28141563T>C | CA391381457 | HERC2 | c.11884A>G (p.Arg3962Gly) c.3595A>G (p.Arg1199Gly) c.11770A>G (p.Arg3924Gly) c.11869A>G (p.Arg3957Gly) c.11626A>G (p.Arg3876Gly) c.11401A>G (p.Arg3801Gly) c.9400A>G (p.Arg3134Gly) c.8629A>G (p.Arg2877Gly) c.6001A>G (p.Arg2001Gly) c.5050A>G (p.Arg1684Gly) | |
15 | g.28141563T>G | CA489234779 | HERC2 | c.11884A>C (p.Arg3962=) c.3595A>C (p.Arg1199=) c.11770A>C (p.Arg3924=) c.11869A>C (p.Arg3957=) c.11626A>C (p.Arg3876=) c.11401A>C (p.Arg3801=) c.9400A>C (p.Arg3134=) c.8629A>C (p.Arg2877=) c.6001A>C (p.Arg2001=) c.5050A>C (p.Arg1684=) | gnomAD v4 |
15 | g.28141564G>A | CA7440436 | HERC2 | c.11883C>T (p.His3961=) c.3594C>T (p.His1198=) c.11769C>T (p.His3923=) c.11868C>T (p.His3956=) c.11625C>T (p.His3875=) c.11400C>T (p.His3800=) c.9399C>T (p.His3133=) c.8628C>T (p.His2876=) c.6000C>T (p.His2000=) c.5049C>T (p.His1683=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141564G>C | CA391381459 | HERC2 | c.11883C>G (p.His3961Gln) c.3594C>G (p.His1198Gln) c.11769C>G (p.His3923Gln) c.11868C>G (p.His3956Gln) c.11625C>G (p.His3875Gln) c.11400C>G (p.His3800Gln) c.9399C>G (p.His3133Gln) c.8628C>G (p.His2876Gln) c.6000C>G (p.His2000Gln) c.5049C>G (p.His1683Gln) | |
15 | g.28141564G= | CA2166479925 | HERC2 | c.11883C= (p.His3961=) c.3594C= (p.His1198=) c.11769C= (p.His3923=) c.11868C= (p.His3956=) c.11625C= (p.His3875=) c.11400C= (p.His3800=) c.9399C= (p.His3133=) c.8628C= (p.His2876=) c.6000C= (p.His2000=) c.5049C= (p.His1683=) | |
15 | g.28141564G>T | CA391381463 | HERC2 | c.11883C>A (p.His3961Gln) c.3594C>A (p.His1198Gln) c.11769C>A (p.His3923Gln) c.11868C>A (p.His3956Gln) c.11625C>A (p.His3875Gln) c.11400C>A (p.His3800Gln) c.9399C>A (p.His3133Gln) c.8628C>A (p.His2876Gln) c.6000C>A (p.His2000Gln) c.5049C>A (p.His1683Gln) | |
15 | g.28141565T>A | CA391381465 | HERC2 | c.11882A>T (p.His3961Leu) c.3593A>T (p.His1198Leu) c.11768A>T (p.His3923Leu) c.11867A>T (p.His3956Leu) c.11624A>T (p.His3875Leu) c.11399A>T (p.His3800Leu) c.9398A>T (p.His3133Leu) c.8627A>T (p.His2876Leu) c.5999A>T (p.His2000Leu) c.5048A>T (p.His1683Leu) | |
15 | g.28141565T>C | CA391381469 | HERC2 | c.11882A>G (p.His3961Arg) c.3593A>G (p.His1198Arg) c.11768A>G (p.His3923Arg) c.11867A>G (p.His3956Arg) c.11624A>G (p.His3875Arg) c.11399A>G (p.His3800Arg) c.9398A>G (p.His3133Arg) c.8627A>G (p.His2876Arg) c.5999A>G (p.His2000Arg) c.5048A>G (p.His1683Arg) | |
15 | g.28141565T>G | CA391381467 | HERC2 | c.11882A>C (p.His3961Pro) c.3593A>C (p.His1198Pro) c.11768A>C (p.His3923Pro) c.11867A>C (p.His3956Pro) c.11624A>C (p.His3875Pro) c.11399A>C (p.His3800Pro) c.9398A>C (p.His3133Pro) c.8627A>C (p.His2876Pro) c.5999A>C (p.His2000Pro) c.5048A>C (p.His1683Pro) | |
15 | g.28141566G>A | CA391381471 | HERC2 | c.11881C>T (p.His3961Tyr) c.3592C>T (p.His1198Tyr) c.11767C>T (p.His3923Tyr) c.11866C>T (p.His3956Tyr) c.11623C>T (p.His3875Tyr) c.11398C>T (p.His3800Tyr) c.9397C>T (p.His3133Tyr) c.8626C>T (p.His2876Tyr) c.5998C>T (p.His2000Tyr) c.5047C>T (p.His1683Tyr) | |
15 | g.28141566G>C | CA391381475 | HERC2 | c.11881C>G (p.His3961Asp) c.3592C>G (p.His1198Asp) c.11767C>G (p.His3923Asp) c.11866C>G (p.His3956Asp) c.11623C>G (p.His3875Asp) c.11398C>G (p.His3800Asp) c.9397C>G (p.His3133Asp) c.8626C>G (p.His2876Asp) c.5998C>G (p.His2000Asp) c.5047C>G (p.His1683Asp) | |
15 | g.28141566G>T | CA391381473 | HERC2 | c.11881C>A (p.His3961Asn) c.3592C>A (p.His1198Asn) c.11767C>A (p.His3923Asn) c.11866C>A (p.His3956Asn) c.11623C>A (p.His3875Asn) c.11398C>A (p.His3800Asn) c.9397C>A (p.His3133Asn) c.8626C>A (p.His2876Asn) c.5998C>A (p.His2000Asn) c.5047C>A (p.His1683Asn) | |
15 | g.28141567A>C | CA391381477 | HERC2 | c.11880T>G (p.Asn3960Lys) c.3591T>G (p.Asn1197Lys) c.11766T>G (p.Asn3922Lys) c.11865T>G (p.Asn3955Lys) c.11622T>G (p.Asn3874Lys) c.11397T>G (p.Asn3799Lys) c.9396T>G (p.Asn3132Lys) c.8625T>G (p.Asn2875Lys) c.5997T>G (p.Asn1999Lys) c.5046T>G (p.Asn1682Lys) | |
15 | g.28141567A>G | CA489234780 | HERC2 | c.11880T>C (p.Asn3960=) c.3591T>C (p.Asn1197=) c.11766T>C (p.Asn3922=) c.11865T>C (p.Asn3955=) c.11622T>C (p.Asn3874=) c.11397T>C (p.Asn3799=) c.9396T>C (p.Asn3132=) c.8625T>C (p.Asn2875=) c.5997T>C (p.Asn1999=) c.5046T>C (p.Asn1682=) | |
15 | g.28141567A>T | CA391381479 | HERC2 | c.11880T>A (p.Asn3960Lys) c.3591T>A (p.Asn1197Lys) c.11766T>A (p.Asn3922Lys) c.11865T>A (p.Asn3955Lys) c.11622T>A (p.Asn3874Lys) c.11397T>A (p.Asn3799Lys) c.9396T>A (p.Asn3132Lys) c.8625T>A (p.Asn2875Lys) c.5997T>A (p.Asn1999Lys) c.5046T>A (p.Asn1682Lys) | |
15 | g.28141568T>A | CA391381480 | HERC2 | c.11879A>T (p.Asn3960Ile) c.3590A>T (p.Asn1197Ile) c.11765A>T (p.Asn3922Ile) c.11864A>T (p.Asn3955Ile) c.11621A>T (p.Asn3874Ile) c.11396A>T (p.Asn3799Ile) c.9395A>T (p.Asn3132Ile) c.8624A>T (p.Asn2875Ile) c.5996A>T (p.Asn1999Ile) c.5045A>T (p.Asn1682Ile) | |
15 | g.28141568T>C | CA391381486 | HERC2 | c.11879A>G (p.Asn3960Ser) c.3590A>G (p.Asn1197Ser) c.11765A>G (p.Asn3922Ser) c.11864A>G (p.Asn3955Ser) c.11621A>G (p.Asn3874Ser) c.11396A>G (p.Asn3799Ser) c.9395A>G (p.Asn3132Ser) c.8624A>G (p.Asn2875Ser) c.5996A>G (p.Asn1999Ser) c.5045A>G (p.Asn1682Ser) | |
15 | g.28141568T>G | CA391381482 | HERC2 | c.11879A>C (p.Asn3960Thr) c.3590A>C (p.Asn1197Thr) c.11765A>C (p.Asn3922Thr) c.11864A>C (p.Asn3955Thr) c.11621A>C (p.Asn3874Thr) c.11396A>C (p.Asn3799Thr) c.9395A>C (p.Asn3132Thr) c.8624A>C (p.Asn2875Thr) c.5996A>C (p.Asn1999Thr) c.5045A>C (p.Asn1682Thr) | |
15 | g.28141569T>A | CA391381489 | HERC2 | c.11878A>T (p.Asn3960Tyr) c.3589A>T (p.Asn1197Tyr) c.11764A>T (p.Asn3922Tyr) c.11863A>T (p.Asn3955Tyr) c.11620A>T (p.Asn3874Tyr) c.11395A>T (p.Asn3799Tyr) c.9394A>T (p.Asn3132Tyr) c.8623A>T (p.Asn2875Tyr) c.5995A>T (p.Asn1999Tyr) c.5044A>T (p.Asn1682Tyr) | |
15 | g.28141569T>C | CA391381493 | HERC2 | c.11878A>G (p.Asn3960Asp) c.3589A>G (p.Asn1197Asp) c.11764A>G (p.Asn3922Asp) c.11863A>G (p.Asn3955Asp) c.11620A>G (p.Asn3874Asp) c.11395A>G (p.Asn3799Asp) c.9394A>G (p.Asn3132Asp) c.8623A>G (p.Asn2875Asp) c.5995A>G (p.Asn1999Asp) c.5044A>G (p.Asn1682Asp) | |
15 | g.28141569T>G | CA391381491 | HERC2 | c.11878A>C (p.Asn3960His) c.3589A>C (p.Asn1197His) c.11764A>C (p.Asn3922His) c.11863A>C (p.Asn3955His) c.11620A>C (p.Asn3874His) c.11395A>C (p.Asn3799His) c.9394A>C (p.Asn3132His) c.8623A>C (p.Asn2875His) c.5995A>C (p.Asn1999His) c.5044A>C (p.Asn1682His) | |
15 | g.28141570A>C | CA391381495 | HERC2 | c.11877T>G (p.His3959Gln) c.3588T>G (p.His1196Gln) c.11763T>G (p.His3921Gln) c.11862T>G (p.His3954Gln) c.11619T>G (p.His3873Gln) c.11394T>G (p.His3798Gln) c.9393T>G (p.His3131Gln) c.8622T>G (p.His2874Gln) c.5994T>G (p.His1998Gln) c.5043T>G (p.His1681Gln) | |
15 | g.28141570A>G | CA489234781 | HERC2 | c.11877T>C (p.His3959=) c.3588T>C (p.His1196=) c.11763T>C (p.His3921=) c.11862T>C (p.His3954=) c.11619T>C (p.His3873=) c.11394T>C (p.His3798=) c.9393T>C (p.His3131=) c.8622T>C (p.His2874=) c.5994T>C (p.His1998=) c.5043T>C (p.His1681=) | |
15 | g.28141570A>T | CA391381497 | HERC2 | c.11877T>A (p.His3959Gln) c.3588T>A (p.His1196Gln) c.11763T>A (p.His3921Gln) c.11862T>A (p.His3954Gln) c.11619T>A (p.His3873Gln) c.11394T>A (p.His3798Gln) c.9393T>A (p.His3131Gln) c.8622T>A (p.His2874Gln) c.5994T>A (p.His1998Gln) c.5043T>A (p.His1681Gln) | |
15 | g.28141571T>A | CA391381499 | HERC2 | c.11876A>T (p.His3959Leu) c.3587A>T (p.His1196Leu) c.11762A>T (p.His3921Leu) c.11861A>T (p.His3954Leu) c.11618A>T (p.His3873Leu) c.11393A>T (p.His3798Leu) c.9392A>T (p.His3131Leu) c.8621A>T (p.His2874Leu) c.5993A>T (p.His1998Leu) c.5042A>T (p.His1681Leu) | |
15 | g.28141571T>C | CA391381500 | HERC2 | c.11876A>G (p.His3959Arg) c.3587A>G (p.His1196Arg) c.11762A>G (p.His3921Arg) c.11861A>G (p.His3954Arg) c.11618A>G (p.His3873Arg) c.11393A>G (p.His3798Arg) c.9392A>G (p.His3131Arg) c.8621A>G (p.His2874Arg) c.5993A>G (p.His1998Arg) c.5042A>G (p.His1681Arg) | |
15 | g.28141571T>G | CA391381502 | HERC2 | c.11876A>C (p.His3959Pro) c.3587A>C (p.His1196Pro) c.11762A>C (p.His3921Pro) c.11861A>C (p.His3954Pro) c.11618A>C (p.His3873Pro) c.11393A>C (p.His3798Pro) c.9392A>C (p.His3131Pro) c.8621A>C (p.His2874Pro) c.5993A>C (p.His1998Pro) c.5042A>C (p.His1681Pro) | |
15 | g.28141572G>A | CA391381504 | HERC2 | c.11875C>T (p.His3959Tyr) c.3586C>T (p.His1196Tyr) c.11761C>T (p.His3921Tyr) c.11860C>T (p.His3954Tyr) c.11617C>T (p.His3873Tyr) c.11392C>T (p.His3798Tyr) c.9391C>T (p.His3131Tyr) c.8620C>T (p.His2874Tyr) c.5992C>T (p.His1998Tyr) c.5041C>T (p.His1681Tyr) | gnomAD v4 |
15 | g.28141572G>C | CA391381505 | HERC2 | c.11875C>G (p.His3959Asp) c.3586C>G (p.His1196Asp) c.11761C>G (p.His3921Asp) c.11860C>G (p.His3954Asp) c.11617C>G (p.His3873Asp) c.11392C>G (p.His3798Asp) c.9391C>G (p.His3131Asp) c.8620C>G (p.His2874Asp) c.5992C>G (p.His1998Asp) c.5041C>G (p.His1681Asp) | |
15 | g.28141572G>T | CA391381507 | HERC2 | c.11875C>A (p.His3959Asn) c.3586C>A (p.His1196Asn) c.11761C>A (p.His3921Asn) c.11860C>A (p.His3954Asn) c.11617C>A (p.His3873Asn) c.11392C>A (p.His3798Asn) c.9391C>A (p.His3131Asn) c.8620C>A (p.His2874Asn) c.5992C>A (p.His1998Asn) c.5041C>A (p.His1681Asn) | |
15 | g.28141573T>A | CA489234784 | HERC2 | c.11874A>T (p.Gly3958=) c.3585A>T (p.Gly1195=) c.11760A>T (p.Gly3920=) c.11859A>T (p.Gly3953=) c.11616A>T (p.Gly3872=) c.11391A>T (p.Gly3797=) c.9390A>T (p.Gly3130=) c.8619A>T (p.Gly2873=) c.5991A>T (p.Gly1997=) c.5040A>T (p.Gly1680=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141573T>C | CA489234782 | HERC2 | c.11874A>G (p.Gly3958=) c.3585A>G (p.Gly1195=) c.11760A>G (p.Gly3920=) c.11859A>G (p.Gly3953=) c.11616A>G (p.Gly3872=) c.11391A>G (p.Gly3797=) c.9390A>G (p.Gly3130=) c.8619A>G (p.Gly2873=) c.5991A>G (p.Gly1997=) c.5040A>G (p.Gly1680=) | |
15 | g.28141573T>G | CA489234783 | HERC2 | c.11874A>C (p.Gly3958=) c.3585A>C (p.Gly1195=) c.11760A>C (p.Gly3920=) c.11859A>C (p.Gly3953=) c.11616A>C (p.Gly3872=) c.11391A>C (p.Gly3797=) c.9390A>C (p.Gly3130=) c.8619A>C (p.Gly2873=) c.5991A>C (p.Gly1997=) c.5040A>C (p.Gly1680=) | |
15 | g.28141573T= | CA2166479928 | HERC2 | c.11874A= (p.Gly3958=) c.3585A= (p.Gly1195=) c.11760A= (p.Gly3920=) c.11859A= (p.Gly3953=) c.11616A= (p.Gly3872=) c.11391A= (p.Gly3797=) c.9390A= (p.Gly3130=) c.8619A= (p.Gly2873=) c.5991A= (p.Gly1997=) c.5040A= (p.Gly1680=) | |
15 | g.28141574C>A | CA391381513 | HERC2 | c.11873G>T (p.Gly3958Val) c.3584G>T (p.Gly1195Val) c.11759G>T (p.Gly3920Val) c.11858G>T (p.Gly3953Val) c.11615G>T (p.Gly3872Val) c.11390G>T (p.Gly3797Val) c.9389G>T (p.Gly3130Val) c.8618G>T (p.Gly2873Val) c.5990G>T (p.Gly1997Val) c.5039G>T (p.Gly1680Val) | gnomAD v4 |
15 | g.28141574C>G | CA391381511 | HERC2 | c.11873G>C (p.Gly3958Ala) c.3584G>C (p.Gly1195Ala) c.11759G>C (p.Gly3920Ala) c.11858G>C (p.Gly3953Ala) c.11615G>C (p.Gly3872Ala) c.11390G>C (p.Gly3797Ala) c.9389G>C (p.Gly3130Ala) c.8618G>C (p.Gly2873Ala) c.5990G>C (p.Gly1997Ala) c.5039G>C (p.Gly1680Ala) | |
15 | g.28141574C>T | CA391381509 | HERC2 | c.11873G>A (p.Gly3958Glu) c.3584G>A (p.Gly1195Glu) c.11759G>A (p.Gly3920Glu) c.11858G>A (p.Gly3953Glu) c.11615G>A (p.Gly3872Glu) c.11390G>A (p.Gly3797Glu) c.9389G>A (p.Gly3130Glu) c.8618G>A (p.Gly2873Glu) c.5990G>A (p.Gly1997Glu) c.5039G>A (p.Gly1680Glu) | |
15 | g.28141575C>A | CA391381515 | HERC2 | c.11872G>T (p.Gly3958Ter) c.3583G>T (p.Gly1195Ter) c.11758G>T (p.Gly3920Ter) c.11857G>T (p.Gly3953Ter) c.11614G>T (p.Gly3872Ter) c.11389G>T (p.Gly3797Ter) c.9388G>T (p.Gly3130Ter) c.8617G>T (p.Gly2873Ter) c.5989G>T (p.Gly1997Ter) c.5038G>T (p.Gly1680Ter) | |
15 | g.28141575C>G | CA391381517 | HERC2 | c.11872G>C (p.Gly3958Arg) c.3583G>C (p.Gly1195Arg) c.11758G>C (p.Gly3920Arg) c.11857G>C (p.Gly3953Arg) c.11614G>C (p.Gly3872Arg) c.11389G>C (p.Gly3797Arg) c.9388G>C (p.Gly3130Arg) c.8617G>C (p.Gly2873Arg) c.5989G>C (p.Gly1997Arg) c.5038G>C (p.Gly1680Arg) | |
15 | g.28141575C>T | CA391381519 | HERC2 | c.11872G>A (p.Gly3958Arg) c.3583G>A (p.Gly1195Arg) c.11758G>A (p.Gly3920Arg) c.11857G>A (p.Gly3953Arg) c.11614G>A (p.Gly3872Arg) c.11389G>A (p.Gly3797Arg) c.9388G>A (p.Gly3130Arg) c.8617G>A (p.Gly2873Arg) c.5989G>A (p.Gly1997Arg) c.5038G>A (p.Gly1680Arg) | |
15 | g.28141576C>A | CA391381521 | HERC2 | c.11871G>T (p.Trp3957Cys) c.3582G>T (p.Trp1194Cys) c.11757G>T (p.Trp3919Cys) c.11856G>T (p.Trp3952Cys) c.11613G>T (p.Trp3871Cys) c.11388G>T (p.Trp3796Cys) c.9387G>T (p.Trp3129Cys) c.8616G>T (p.Trp2872Cys) c.5988G>T (p.Trp1996Cys) c.5037G>T (p.Trp1679Cys) | |
15 | g.28141576C>G | CA391381523 | HERC2 | c.11871G>C (p.Trp3957Cys) c.3582G>C (p.Trp1194Cys) c.11757G>C (p.Trp3919Cys) c.11856G>C (p.Trp3952Cys) c.11613G>C (p.Trp3871Cys) c.11388G>C (p.Trp3796Cys) c.9387G>C (p.Trp3129Cys) c.8616G>C (p.Trp2872Cys) c.5988G>C (p.Trp1996Cys) c.5037G>C (p.Trp1679Cys) | |
15 | g.28141576C>T | CA391381525 | HERC2 | c.11871G>A (p.Trp3957Ter) c.3582G>A (p.Trp1194Ter) c.11757G>A (p.Trp3919Ter) c.11856G>A (p.Trp3952Ter) c.11613G>A (p.Trp3871Ter) c.11388G>A (p.Trp3796Ter) c.9387G>A (p.Trp3129Ter) c.8616G>A (p.Trp2872Ter) c.5988G>A (p.Trp1996Ter) c.5037G>A (p.Trp1679Ter) | |
15 | g.28141577C>A | CA391381527 | HERC2 | c.11870G>T (p.Trp3957Leu) c.3581G>T (p.Trp1194Leu) c.11756G>T (p.Trp3919Leu) c.11855G>T (p.Trp3952Leu) c.11612G>T (p.Trp3871Leu) c.11387G>T (p.Trp3796Leu) c.9386G>T (p.Trp3129Leu) c.8615G>T (p.Trp2872Leu) c.5987G>T (p.Trp1996Leu) c.5036G>T (p.Trp1679Leu) | gnomAD v4 |
15 | g.28141577C>G | CA391381531 | HERC2 | c.11870G>C (p.Trp3957Ser) c.3581G>C (p.Trp1194Ser) c.11756G>C (p.Trp3919Ser) c.11855G>C (p.Trp3952Ser) c.11612G>C (p.Trp3871Ser) c.11387G>C (p.Trp3796Ser) c.9386G>C (p.Trp3129Ser) c.8615G>C (p.Trp2872Ser) c.5987G>C (p.Trp1996Ser) c.5036G>C (p.Trp1679Ser) | |
15 | g.28141577C>T | CA391381529 | HERC2 | c.11870G>A (p.Trp3957Ter) c.3581G>A (p.Trp1194Ter) c.11756G>A (p.Trp3919Ter) c.11855G>A (p.Trp3952Ter) c.11612G>A (p.Trp3871Ter) c.11387G>A (p.Trp3796Ter) c.9386G>A (p.Trp3129Ter) c.8615G>A (p.Trp2872Ter) c.5987G>A (p.Trp1996Ter) c.5036G>A (p.Trp1679Ter) | |
15 | g.28141578A>C | CA391381533 | HERC2 | c.11869T>G (p.Trp3957Gly) c.3580T>G (p.Trp1194Gly) c.11755T>G (p.Trp3919Gly) c.11854T>G (p.Trp3952Gly) c.11611T>G (p.Trp3871Gly) c.11386T>G (p.Trp3796Gly) c.9385T>G (p.Trp3129Gly) c.8614T>G (p.Trp2872Gly) c.5986T>G (p.Trp1996Gly) c.5035T>G (p.Trp1679Gly) | |
15 | g.28141578A>G | CA391381534 | HERC2 | c.11869T>C (p.Trp3957Arg) c.3580T>C (p.Trp1194Arg) c.11755T>C (p.Trp3919Arg) c.11854T>C (p.Trp3952Arg) c.11611T>C (p.Trp3871Arg) c.11386T>C (p.Trp3796Arg) c.9385T>C (p.Trp3129Arg) c.8614T>C (p.Trp2872Arg) c.5986T>C (p.Trp1996Arg) c.5035T>C (p.Trp1679Arg) | |
15 | g.28141578A>T | CA391381535 | HERC2 | c.11869T>A (p.Trp3957Arg) c.3580T>A (p.Trp1194Arg) c.11755T>A (p.Trp3919Arg) c.11854T>A (p.Trp3952Arg) c.11611T>A (p.Trp3871Arg) c.11386T>A (p.Trp3796Arg) c.9385T>A (p.Trp3129Arg) c.8614T>A (p.Trp2872Arg) c.5986T>A (p.Trp1996Arg) c.5035T>A (p.Trp1679Arg) | |
15 | g.28141579T>A | CA7440437 | HERC2 | c.11868A>T (p.Gly3956=) c.3579A>T (p.Gly1193=) c.11754A>T (p.Gly3918=) c.11853A>T (p.Gly3951=) c.11610A>T (p.Gly3870=) c.11385A>T (p.Gly3795=) c.9384A>T (p.Gly3128=) c.8613A>T (p.Gly2871=) c.5985A>T (p.Gly1995=) c.5034A>T (p.Gly1678=) | dbSNP ExAC gnomAD v2 |
15 | g.28141579T>C | CA489234852 | HERC2 | c.11868A>G (p.Gly3956=) c.3579A>G (p.Gly1193=) c.11754A>G (p.Gly3918=) c.11853A>G (p.Gly3951=) c.11610A>G (p.Gly3870=) c.11385A>G (p.Gly3795=) c.9384A>G (p.Gly3128=) c.8613A>G (p.Gly2871=) c.5985A>G (p.Gly1995=) c.5034A>G (p.Gly1678=) | |
15 | g.28141579T>G | CA489234854 | HERC2 | c.11868A>C (p.Gly3956=) c.3579A>C (p.Gly1193=) c.11754A>C (p.Gly3918=) c.11853A>C (p.Gly3951=) c.11610A>C (p.Gly3870=) c.11385A>C (p.Gly3795=) c.9384A>C (p.Gly3128=) c.8613A>C (p.Gly2871=) c.5985A>C (p.Gly1995=) c.5034A>C (p.Gly1678=) | |
15 | g.28141579T= | CA2166479929 | HERC2 | c.11868A= (p.Gly3956=) c.3579A= (p.Gly1193=) c.11754A= (p.Gly3918=) c.11853A= (p.Gly3951=) c.11610A= (p.Gly3870=) c.11385A= (p.Gly3795=) c.9384A= (p.Gly3128=) c.8613A= (p.Gly2871=) c.5985A= (p.Gly1995=) c.5034A= (p.Gly1678=) | |
15 | g.28141580C>A | CA391381537 | HERC2 | c.11867G>T (p.Gly3956Val) c.3578G>T (p.Gly1193Val) c.11753G>T (p.Gly3918Val) c.11852G>T (p.Gly3951Val) c.11609G>T (p.Gly3870Val) c.11384G>T (p.Gly3795Val) c.9383G>T (p.Gly3128Val) c.8612G>T (p.Gly2871Val) c.5984G>T (p.Gly1995Val) c.5033G>T (p.Gly1678Val) | |
15 | g.28141580C>G | CA391381539 | HERC2 | c.11867G>C (p.Gly3956Ala) c.3578G>C (p.Gly1193Ala) c.11753G>C (p.Gly3918Ala) c.11852G>C (p.Gly3951Ala) c.11609G>C (p.Gly3870Ala) c.11384G>C (p.Gly3795Ala) c.9383G>C (p.Gly3128Ala) c.8612G>C (p.Gly2871Ala) c.5984G>C (p.Gly1995Ala) c.5033G>C (p.Gly1678Ala) | |
15 | g.28141580C>T | CA391381540 | HERC2 | c.11867G>A (p.Gly3956Glu) c.3578G>A (p.Gly1193Glu) c.11753G>A (p.Gly3918Glu) c.11852G>A (p.Gly3951Glu) c.11609G>A (p.Gly3870Glu) c.11384G>A (p.Gly3795Glu) c.9383G>A (p.Gly3128Glu) c.8612G>A (p.Gly2871Glu) c.5984G>A (p.Gly1995Glu) c.5033G>A (p.Gly1678Glu) | gnomAD v4 |
15 | g.28141581C>A | CA267946126 | HERC2 | c.11866G>T (p.Gly3956Ter) c.3577G>T (p.Gly1193Ter) c.11752G>T (p.Gly3918Ter) c.11851G>T (p.Gly3951Ter) c.11608G>T (p.Gly3870Ter) c.11383G>T (p.Gly3795Ter) c.9382G>T (p.Gly3128Ter) c.8611G>T (p.Gly2871Ter) c.5983G>T (p.Gly1995Ter) c.5032G>T (p.Gly1678Ter) | dbSNP COSMIC COSMIC |
15 | g.28141581C= | CA2166479932 | HERC2 | c.11866G= (p.Gly3956=) c.3577G= (p.Gly1193=) c.11752G= (p.Gly3918=) c.11851G= (p.Gly3951=) c.11608G= (p.Gly3870=) c.11383G= (p.Gly3795=) c.9382G= (p.Gly3128=) c.8611G= (p.Gly2871=) c.5983G= (p.Gly1995=) c.5032G= (p.Gly1678=) | |
15 | g.28141581C>G | CA391381543 | HERC2 | c.11866G>C (p.Gly3956Arg) c.3577G>C (p.Gly1193Arg) c.11752G>C (p.Gly3918Arg) c.11851G>C (p.Gly3951Arg) c.11608G>C (p.Gly3870Arg) c.11383G>C (p.Gly3795Arg) c.9382G>C (p.Gly3128Arg) c.8611G>C (p.Gly2871Arg) c.5983G>C (p.Gly1995Arg) c.5032G>C (p.Gly1678Arg) | |
15 | g.28141581C>T | CA391381545 | HERC2 | c.11866G>A (p.Gly3956Arg) c.3577G>A (p.Gly1193Arg) c.11752G>A (p.Gly3918Arg) c.11851G>A (p.Gly3951Arg) c.11608G>A (p.Gly3870Arg) c.11383G>A (p.Gly3795Arg) c.9382G>A (p.Gly3128Arg) c.8611G>A (p.Gly2871Arg) c.5983G>A (p.Gly1995Arg) c.5032G>A (p.Gly1678Arg) | |
15 | g.28141582A>C | CA391381546 | HERC2 | c.11865T>G (p.Tyr3955Ter) c.3576T>G (p.Tyr1192Ter) c.11751T>G (p.Tyr3917Ter) c.11850T>G (p.Tyr3950Ter) c.11607T>G (p.Tyr3869Ter) c.11382T>G (p.Tyr3794Ter) c.9381T>G (p.Tyr3127Ter) c.8610T>G (p.Tyr2870Ter) c.5982T>G (p.Tyr1994Ter) c.5031T>G (p.Tyr1677Ter) | |
15 | g.28141582A>G | CA489234864 | HERC2 | c.11865T>C (p.Tyr3955=) c.3576T>C (p.Tyr1192=) c.11751T>C (p.Tyr3917=) c.11850T>C (p.Tyr3950=) c.11607T>C (p.Tyr3869=) c.11382T>C (p.Tyr3794=) c.9381T>C (p.Tyr3127=) c.8610T>C (p.Tyr2870=) c.5982T>C (p.Tyr1994=) c.5031T>C (p.Tyr1677=) | gnomAD v4 |
15 | g.28141582A>T | CA391381548 | HERC2 | c.11865T>A (p.Tyr3955Ter) c.3576T>A (p.Tyr1192Ter) c.11751T>A (p.Tyr3917Ter) c.11850T>A (p.Tyr3950Ter) c.11607T>A (p.Tyr3869Ter) c.11382T>A (p.Tyr3794Ter) c.9381T>A (p.Tyr3127Ter) c.8610T>A (p.Tyr2870Ter) c.5982T>A (p.Tyr1994Ter) c.5031T>A (p.Tyr1677Ter) | |
15 | g.28141583T>A | CA391381551 | HERC2 | c.11864A>T (p.Tyr3955Phe) c.3575A>T (p.Tyr1192Phe) c.11750A>T (p.Tyr3917Phe) c.11849A>T (p.Tyr3950Phe) c.11606A>T (p.Tyr3869Phe) c.11381A>T (p.Tyr3794Phe) c.9380A>T (p.Tyr3127Phe) c.8609A>T (p.Tyr2870Phe) c.5981A>T (p.Tyr1994Phe) c.5030A>T (p.Tyr1677Phe) | gnomAD v4 |
15 | g.28141583T>C | CA391381553 | HERC2 | c.11864A>G (p.Tyr3955Cys) c.3575A>G (p.Tyr1192Cys) c.11750A>G (p.Tyr3917Cys) c.11849A>G (p.Tyr3950Cys) c.11606A>G (p.Tyr3869Cys) c.11381A>G (p.Tyr3794Cys) c.9380A>G (p.Tyr3127Cys) c.8609A>G (p.Tyr2870Cys) c.5981A>G (p.Tyr1994Cys) c.5030A>G (p.Tyr1677Cys) | |
15 | g.28141583T>G | CA391381552 | HERC2 | c.11864A>C (p.Tyr3955Ser) c.3575A>C (p.Tyr1192Ser) c.11750A>C (p.Tyr3917Ser) c.11849A>C (p.Tyr3950Ser) c.11606A>C (p.Tyr3869Ser) c.11381A>C (p.Tyr3794Ser) c.9380A>C (p.Tyr3127Ser) c.8609A>C (p.Tyr2870Ser) c.5981A>C (p.Tyr1994Ser) c.5030A>C (p.Tyr1677Ser) | |
15 | g.28141584A>C | CA391381555 | HERC2 | c.11863T>G (p.Tyr3955Asp) c.3574T>G (p.Tyr1192Asp) c.11749T>G (p.Tyr3917Asp) c.11848T>G (p.Tyr3950Asp) c.11605T>G (p.Tyr3869Asp) c.11380T>G (p.Tyr3794Asp) c.9379T>G (p.Tyr3127Asp) c.8608T>G (p.Tyr2870Asp) c.5980T>G (p.Tyr1994Asp) c.5029T>G (p.Tyr1677Asp) | |
15 | g.28141584A>G | CA391381557 | HERC2 | c.11863T>C (p.Tyr3955His) c.3574T>C (p.Tyr1192His) c.11749T>C (p.Tyr3917His) c.11848T>C (p.Tyr3950His) c.11605T>C (p.Tyr3869His) c.11380T>C (p.Tyr3794His) c.9379T>C (p.Tyr3127His) c.8608T>C (p.Tyr2870His) c.5980T>C (p.Tyr1994His) c.5029T>C (p.Tyr1677His) | |
15 | g.28141584A>T | CA391381559 | HERC2 | c.11863T>A (p.Tyr3955Asn) c.3574T>A (p.Tyr1192Asn) c.11749T>A (p.Tyr3917Asn) c.11848T>A (p.Tyr3950Asn) c.11605T>A (p.Tyr3869Asn) c.11380T>A (p.Tyr3794Asn) c.9379T>A (p.Tyr3127Asn) c.8608T>A (p.Tyr2870Asn) c.5980T>A (p.Tyr1994Asn) c.5029T>A (p.Tyr1677Asn) | |
15 | g.28141585A= | CA2166479934 | HERC2 | c.11862T= (p.Ile3954=) c.3573T= (p.Ile1191=) c.11748T= (p.Ile3916=) c.11847T= (p.Ile3949=) c.11604T= (p.Ile3868=) c.11379T= (p.Ile3793=) c.9378T= (p.Ile3126=) c.8607T= (p.Ile2869=) c.5979T= (p.Ile1993=) c.5028T= (p.Ile1676=) | |
15 | g.28141585A>C | CA391381560 | HERC2 | c.11862T>G (p.Ile3954Met) c.3573T>G (p.Ile1191Met) c.11748T>G (p.Ile3916Met) c.11847T>G (p.Ile3949Met) c.11604T>G (p.Ile3868Met) c.11379T>G (p.Ile3793Met) c.9378T>G (p.Ile3126Met) c.8607T>G (p.Ile2869Met) c.5979T>G (p.Ile1993Met) c.5028T>G (p.Ile1676Met) | |
15 | g.28141585A>G | CA489234868 | HERC2 | c.11862T>C (p.Ile3954=) c.3573T>C (p.Ile1191=) c.11748T>C (p.Ile3916=) c.11847T>C (p.Ile3949=) c.11604T>C (p.Ile3868=) c.11379T>C (p.Ile3793=) c.9378T>C (p.Ile3126=) c.8607T>C (p.Ile2869=) c.5979T>C (p.Ile1993=) c.5028T>C (p.Ile1676=) | |
15 | g.28141585A>T | CA489234870 | HERC2 | c.11862T>A (p.Ile3954=) c.3573T>A (p.Ile1191=) c.11748T>A (p.Ile3916=) c.11847T>A (p.Ile3949=) c.11604T>A (p.Ile3868=) c.11379T>A (p.Ile3793=) c.9378T>A (p.Ile3126=) c.8607T>A (p.Ile2869=) c.5979T>A (p.Ile1993=) c.5028T>A (p.Ile1676=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141586A= | CA2166479935 | HERC2 | c.11861T= (p.Ile3954=) c.3572T= (p.Ile1191=) c.11747T= (p.Ile3916=) c.11846T= (p.Ile3949=) c.11603T= (p.Ile3868=) c.11378T= (p.Ile3793=) c.9377T= (p.Ile3126=) c.8606T= (p.Ile2869=) c.5978T= (p.Ile1993=) c.5027T= (p.Ile1676=) | |
15 | g.28141586A>C | CA391381561 | HERC2 | c.11861T>G (p.Ile3954Ser) c.3572T>G (p.Ile1191Ser) c.11747T>G (p.Ile3916Ser) c.11846T>G (p.Ile3949Ser) c.11603T>G (p.Ile3868Ser) c.11378T>G (p.Ile3793Ser) c.9377T>G (p.Ile3126Ser) c.8606T>G (p.Ile2869Ser) c.5978T>G (p.Ile1993Ser) c.5027T>G (p.Ile1676Ser) | |
15 | g.28141586A>G | CA7440438 | HERC2 | c.11861T>C (p.Ile3954Thr) c.3572T>C (p.Ile1191Thr) c.11747T>C (p.Ile3916Thr) c.11846T>C (p.Ile3949Thr) c.11603T>C (p.Ile3868Thr) c.11378T>C (p.Ile3793Thr) c.9377T>C (p.Ile3126Thr) c.8606T>C (p.Ile2869Thr) c.5978T>C (p.Ile1993Thr) c.5027T>C (p.Ile1676Thr) | dbSNP ExAC gnomAD v4 |
15 | g.28141586A>T | CA391381563 | HERC2 | c.11861T>A (p.Ile3954Asn) c.3572T>A (p.Ile1191Asn) c.11747T>A (p.Ile3916Asn) c.11846T>A (p.Ile3949Asn) c.11603T>A (p.Ile3868Asn) c.11378T>A (p.Ile3793Asn) c.9377T>A (p.Ile3126Asn) c.8606T>A (p.Ile2869Asn) c.5978T>A (p.Ile1993Asn) c.5027T>A (p.Ile1676Asn) | |
15 | g.28141587T>A | CA391381565 | HERC2 | c.11860A>T (p.Ile3954Phe) c.3571A>T (p.Ile1191Phe) c.11746A>T (p.Ile3916Phe) c.11845A>T (p.Ile3949Phe) c.11602A>T (p.Ile3868Phe) c.11377A>T (p.Ile3793Phe) c.9376A>T (p.Ile3126Phe) c.8605A>T (p.Ile2869Phe) c.5977A>T (p.Ile1993Phe) c.5026A>T (p.Ile1676Phe) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141587T>C | CA391381566 | HERC2 | c.11860A>G (p.Ile3954Val) c.3571A>G (p.Ile1191Val) c.11746A>G (p.Ile3916Val) c.11845A>G (p.Ile3949Val) c.11602A>G (p.Ile3868Val) c.11377A>G (p.Ile3793Val) c.9376A>G (p.Ile3126Val) c.8605A>G (p.Ile2869Val) c.5977A>G (p.Ile1993Val) c.5026A>G (p.Ile1676Val) | gnomAD v4 |
15 | g.28141587T>G | CA391381568 | HERC2 | c.11860A>C (p.Ile3954Leu) c.3571A>C (p.Ile1191Leu) c.11746A>C (p.Ile3916Leu) c.11845A>C (p.Ile3949Leu) c.11602A>C (p.Ile3868Leu) c.11377A>C (p.Ile3793Leu) c.9376A>C (p.Ile3126Leu) c.8605A>C (p.Ile2869Leu) c.5977A>C (p.Ile1993Leu) c.5026A>C (p.Ile1676Leu) | |
15 | g.28141587T= | CA2166479938 | HERC2 | c.11860A= (p.Ile3954=) c.3571A= (p.Ile1191=) c.11746A= (p.Ile3916=) c.11845A= (p.Ile3949=) c.11602A= (p.Ile3868=) c.11377A= (p.Ile3793=) c.9376A= (p.Ile3126=) c.8605A= (p.Ile2869=) c.5977A= (p.Ile1993=) c.5026A= (p.Ile1676=) | |
15 | g.28141588T>A | CA489234873 | HERC2 | c.11859A>T (p.Thr3953=) c.3570A>T (p.Thr1190=) c.11745A>T (p.Thr3915=) c.11844A>T (p.Thr3948=) c.11601A>T (p.Thr3867=) c.11376A>T (p.Thr3792=) c.9375A>T (p.Thr3125=) c.8604A>T (p.Thr2868=) c.5976A>T (p.Thr1992=) c.5025A>T (p.Thr1675=) | |
15 | g.28141588T>C | CA489234874 | HERC2 | c.11859A>G (p.Thr3953=) c.3570A>G (p.Thr1190=) c.11745A>G (p.Thr3915=) c.11844A>G (p.Thr3948=) c.11601A>G (p.Thr3867=) c.11376A>G (p.Thr3792=) c.9375A>G (p.Thr3125=) c.8604A>G (p.Thr2868=) c.5976A>G (p.Thr1992=) c.5025A>G (p.Thr1675=) | |
15 | g.28141588T>G | CA489234872 | HERC2 | c.11859A>C (p.Thr3953=) c.3570A>C (p.Thr1190=) c.11745A>C (p.Thr3915=) c.11844A>C (p.Thr3948=) c.11601A>C (p.Thr3867=) c.11376A>C (p.Thr3792=) c.9375A>C (p.Thr3125=) c.8604A>C (p.Thr2868=) c.5976A>C (p.Thr1992=) c.5025A>C (p.Thr1675=) | gnomAD v4 |
15 | g.28141589G>A | CA391381570 | HERC2 | c.11858C>T (p.Thr3953Ile) c.3569C>T (p.Thr1190Ile) c.11744C>T (p.Thr3915Ile) c.11843C>T (p.Thr3948Ile) c.11600C>T (p.Thr3867Ile) c.11375C>T (p.Thr3792Ile) c.9374C>T (p.Thr3125Ile) c.8603C>T (p.Thr2868Ile) c.5975C>T (p.Thr1992Ile) c.5024C>T (p.Thr1675Ile) | |
15 | g.28141589G>C | CA391381572 | HERC2 | c.11858C>G (p.Thr3953Arg) c.3569C>G (p.Thr1190Arg) c.11744C>G (p.Thr3915Arg) c.11843C>G (p.Thr3948Arg) c.11600C>G (p.Thr3867Arg) c.11375C>G (p.Thr3792Arg) c.9374C>G (p.Thr3125Arg) c.8603C>G (p.Thr2868Arg) c.5975C>G (p.Thr1992Arg) c.5024C>G (p.Thr1675Arg) | |
15 | g.28141589G>T | CA391381573 | HERC2 | c.11858C>A (p.Thr3953Lys) c.3569C>A (p.Thr1190Lys) c.11744C>A (p.Thr3915Lys) c.11843C>A (p.Thr3948Lys) c.11600C>A (p.Thr3867Lys) c.11375C>A (p.Thr3792Lys) c.9374C>A (p.Thr3125Lys) c.8603C>A (p.Thr2868Lys) c.5975C>A (p.Thr1992Lys) c.5024C>A (p.Thr1675Lys) | |
15 | g.28141590T>A | CA391381579 | HERC2 | c.11857A>T (p.Thr3953Ser) c.3568A>T (p.Thr1190Ser) c.11743A>T (p.Thr3915Ser) c.11842A>T (p.Thr3948Ser) c.11599A>T (p.Thr3867Ser) c.11374A>T (p.Thr3792Ser) c.9373A>T (p.Thr3125Ser) c.8602A>T (p.Thr2868Ser) c.5974A>T (p.Thr1992Ser) c.5023A>T (p.Thr1675Ser) | |
15 | g.28141590T>C | CA391381576 | HERC2 | c.11857A>G (p.Thr3953Ala) c.3568A>G (p.Thr1190Ala) c.11743A>G (p.Thr3915Ala) c.11842A>G (p.Thr3948Ala) c.11599A>G (p.Thr3867Ala) c.11374A>G (p.Thr3792Ala) c.9373A>G (p.Thr3125Ala) c.8602A>G (p.Thr2868Ala) c.5974A>G (p.Thr1992Ala) c.5023A>G (p.Thr1675Ala) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141590T>G | CA391381578 | HERC2 | c.11857A>C (p.Thr3953Pro) c.3568A>C (p.Thr1190Pro) c.11743A>C (p.Thr3915Pro) c.11842A>C (p.Thr3948Pro) c.11599A>C (p.Thr3867Pro) c.11374A>C (p.Thr3792Pro) c.9373A>C (p.Thr3125Pro) c.8602A>C (p.Thr2868Pro) c.5974A>C (p.Thr1992Pro) c.5023A>C (p.Thr1675Pro) | |
15 | g.28141590T= | CA2166479940 | HERC2 | c.11857A= (p.Thr3953=) c.3568A= (p.Thr1190=) c.11743A= (p.Thr3915=) c.11842A= (p.Thr3948=) c.11599A= (p.Thr3867=) c.11374A= (p.Thr3792=) c.9373A= (p.Thr3125=) c.8602A= (p.Thr2868=) c.5974A= (p.Thr1992=) c.5023A= (p.Thr1675=) | |
15 | g.28141591T>A | CA489234878 | HERC2 | c.11856A>T (p.Gly3952=) c.3567A>T (p.Gly1189=) c.11742A>T (p.Gly3914=) c.11841A>T (p.Gly3947=) c.11598A>T (p.Gly3866=) c.11373A>T (p.Gly3791=) c.9372A>T (p.Gly3124=) c.8601A>T (p.Gly2867=) c.5973A>T (p.Gly1991=) c.5022A>T (p.Gly1674=) | |
15 | g.28141591T>C | CA489234879 | HERC2 | c.11856A>G (p.Gly3952=) c.3567A>G (p.Gly1189=) c.11742A>G (p.Gly3914=) c.11841A>G (p.Gly3947=) c.11598A>G (p.Gly3866=) c.11373A>G (p.Gly3791=) c.9372A>G (p.Gly3124=) c.8601A>G (p.Gly2867=) c.5973A>G (p.Gly1991=) c.5022A>G (p.Gly1674=) | |
15 | g.28141591T>G | CA489234880 | HERC2 | c.11856A>C (p.Gly3952=) c.3567A>C (p.Gly1189=) c.11742A>C (p.Gly3914=) c.11841A>C (p.Gly3947=) c.11598A>C (p.Gly3866=) c.11373A>C (p.Gly3791=) c.9372A>C (p.Gly3124=) c.8601A>C (p.Gly2867=) c.5973A>C (p.Gly1991=) c.5022A>C (p.Gly1674=) | |
15 | g.28141592C>A | CA391381581 | HERC2 | c.11855G>T (p.Gly3952Val) c.3566G>T (p.Gly1189Val) c.11741G>T (p.Gly3914Val) c.11840G>T (p.Gly3947Val) c.11597G>T (p.Gly3866Val) c.11372G>T (p.Gly3791Val) c.9371G>T (p.Gly3124Val) c.8600G>T (p.Gly2867Val) c.5972G>T (p.Gly1991Val) c.5021G>T (p.Gly1674Val) | |
15 | g.28141592C>G | CA391381583 | HERC2 | c.11855G>C (p.Gly3952Ala) c.3566G>C (p.Gly1189Ala) c.11741G>C (p.Gly3914Ala) c.11840G>C (p.Gly3947Ala) c.11597G>C (p.Gly3866Ala) c.11372G>C (p.Gly3791Ala) c.9371G>C (p.Gly3124Ala) c.8600G>C (p.Gly2867Ala) c.5972G>C (p.Gly1991Ala) c.5021G>C (p.Gly1674Ala) | |
15 | g.28141592C>T | CA391381585 | HERC2 | c.11855G>A (p.Gly3952Glu) c.3566G>A (p.Gly1189Glu) c.11741G>A (p.Gly3914Glu) c.11840G>A (p.Gly3947Glu) c.11597G>A (p.Gly3866Glu) c.11372G>A (p.Gly3791Glu) c.9371G>A (p.Gly3124Glu) c.8600G>A (p.Gly2867Glu) c.5972G>A (p.Gly1991Glu) c.5021G>A (p.Gly1674Glu) | |
15 | g.28141593C>A | CA391381586 | HERC2 | c.11854G>T (p.Gly3952Ter) c.3565G>T (p.Gly1189Ter) c.11740G>T (p.Gly3914Ter) c.11839G>T (p.Gly3947Ter) c.11596G>T (p.Gly3866Ter) c.11371G>T (p.Gly3791Ter) c.9370G>T (p.Gly3124Ter) c.8599G>T (p.Gly2867Ter) c.5971G>T (p.Gly1991Ter) c.5020G>T (p.Gly1674Ter) | COSMIC |
15 | g.28141593C>G | CA391381588 | HERC2 | c.11854G>C (p.Gly3952Arg) c.3565G>C (p.Gly1189Arg) c.11740G>C (p.Gly3914Arg) c.11839G>C (p.Gly3947Arg) c.11596G>C (p.Gly3866Arg) c.11371G>C (p.Gly3791Arg) c.9370G>C (p.Gly3124Arg) c.8599G>C (p.Gly2867Arg) c.5971G>C (p.Gly1991Arg) c.5020G>C (p.Gly1674Arg) | |
15 | g.28141593C>T | CA391381590 | HERC2 | c.11854G>A (p.Gly3952Arg) c.3565G>A (p.Gly1189Arg) c.11740G>A (p.Gly3914Arg) c.11839G>A (p.Gly3947Arg) c.11596G>A (p.Gly3866Arg) c.11371G>A (p.Gly3791Arg) c.9370G>A (p.Gly3124Arg) c.8599G>A (p.Gly2867Arg) c.5971G>A (p.Gly1991Arg) c.5020G>A (p.Gly1674Arg) | |
15 | g.28141594A>C | CA391381592 | HERC2 | c.11853T>G (p.Ser3951Arg) c.3564T>G (p.Ser1188Arg) c.11739T>G (p.Ser3913Arg) c.11838T>G (p.Ser3946Arg) c.11595T>G (p.Ser3865Arg) c.11370T>G (p.Ser3790Arg) c.9369T>G (p.Ser3123Arg) c.8598T>G (p.Ser2866Arg) c.5970T>G (p.Ser1990Arg) c.5019T>G (p.Ser1673Arg) | |
15 | g.28141594A>G | CA489234886 | HERC2 | c.11853T>C (p.Ser3951=) c.3564T>C (p.Ser1188=) c.11739T>C (p.Ser3913=) c.11838T>C (p.Ser3946=) c.11595T>C (p.Ser3865=) c.11370T>C (p.Ser3790=) c.9369T>C (p.Ser3123=) c.8598T>C (p.Ser2866=) c.5970T>C (p.Ser1990=) c.5019T>C (p.Ser1673=) | |
15 | g.28141594A>T | CA391381593 | HERC2 | c.11853T>A (p.Ser3951Arg) c.3564T>A (p.Ser1188Arg) c.11739T>A (p.Ser3913Arg) c.11838T>A (p.Ser3946Arg) c.11595T>A (p.Ser3865Arg) c.11370T>A (p.Ser3790Arg) c.9369T>A (p.Ser3123Arg) c.8598T>A (p.Ser2866Arg) c.5970T>A (p.Ser1990Arg) c.5019T>A (p.Ser1673Arg) | |
15 | g.28141595C>A | CA391381595 | HERC2 | c.11852G>T (p.Ser3951Ile) c.3563G>T (p.Ser1188Ile) c.11738G>T (p.Ser3913Ile) c.11837G>T (p.Ser3946Ile) c.11594G>T (p.Ser3865Ile) c.11369G>T (p.Ser3790Ile) c.9368G>T (p.Ser3123Ile) c.8597G>T (p.Ser2866Ile) c.5969G>T (p.Ser1990Ile) c.5018G>T (p.Ser1673Ile) | |
15 | g.28141595C>G | CA391381597 | HERC2 | c.11852G>C (p.Ser3951Thr) c.3563G>C (p.Ser1188Thr) c.11738G>C (p.Ser3913Thr) c.11837G>C (p.Ser3946Thr) c.11594G>C (p.Ser3865Thr) c.11369G>C (p.Ser3790Thr) c.9368G>C (p.Ser3123Thr) c.8597G>C (p.Ser2866Thr) c.5969G>C (p.Ser1990Thr) c.5018G>C (p.Ser1673Thr) | |
15 | g.28141595C>T | CA391381598 | HERC2 | c.11852G>A (p.Ser3951Asn) c.3563G>A (p.Ser1188Asn) c.11738G>A (p.Ser3913Asn) c.11837G>A (p.Ser3946Asn) c.11594G>A (p.Ser3865Asn) c.11369G>A (p.Ser3790Asn) c.9368G>A (p.Ser3123Asn) c.8597G>A (p.Ser2866Asn) c.5969G>A (p.Ser1990Asn) c.5018G>A (p.Ser1673Asn) | gnomAD v4 |
15 | g.28141596_28141598dup | CA2627386249 | HERC2 | c.11850_11852dup (p.Ser3951_Gly3952insSer) c.3561_3563dup (p.Ser1188_Gly1189insSer) c.11736_11738dup (p.Ser3913_Gly3914insSer) c.11835_11837dup (p.Ser3946_Gly3947insSer) c.11592_11594dup (p.Ser3865_Gly3866insSer) c.11367_11369dup (p.Ser3790_Gly3791insSer) c.9366_9368dup (p.Ser3123_Gly3124insSer) c.8595_8597dup (p.Ser2866_Gly2867insSer) c.5967_5969dup (p.Ser1990_Gly1991insSer) c.5016_5018dup (p.Ser1673_Gly1674insSer) | gnomAD v4 |
15 | g.28141596T>A | CA391381601 | HERC2 | c.11851A>T (p.Ser3951Cys) c.3562A>T (p.Ser1188Cys) c.11737A>T (p.Ser3913Cys) c.11836A>T (p.Ser3946Cys) c.11593A>T (p.Ser3865Cys) c.11368A>T (p.Ser3790Cys) c.9367A>T (p.Ser3123Cys) c.8596A>T (p.Ser2866Cys) c.5968A>T (p.Ser1990Cys) c.5017A>T (p.Ser1673Cys) | |
15 | g.28141596T>C | CA391381604 | HERC2 | c.11851A>G (p.Ser3951Gly) c.3562A>G (p.Ser1188Gly) c.11737A>G (p.Ser3913Gly) c.11836A>G (p.Ser3946Gly) c.11593A>G (p.Ser3865Gly) c.11368A>G (p.Ser3790Gly) c.9367A>G (p.Ser3123Gly) c.8596A>G (p.Ser2866Gly) c.5968A>G (p.Ser1990Gly) c.5017A>G (p.Ser1673Gly) | |
15 | g.28141596T>G | CA391381602 | HERC2 | c.11851A>C (p.Ser3951Arg) c.3562A>C (p.Ser1188Arg) c.11737A>C (p.Ser3913Arg) c.11836A>C (p.Ser3946Arg) c.11593A>C (p.Ser3865Arg) c.11368A>C (p.Ser3790Arg) c.9367A>C (p.Ser3123Arg) c.8596A>C (p.Ser2866Arg) c.5968A>C (p.Ser1990Arg) c.5017A>C (p.Ser1673Arg) | |
15 | g.28141597G>A | CA489234894 | HERC2 | c.11850C>T (p.Gly3950=) c.3561C>T (p.Gly1187=) c.11736C>T (p.Gly3912=) c.11835C>T (p.Gly3945=) c.11592C>T (p.Gly3864=) c.11367C>T (p.Gly3789=) c.9366C>T (p.Gly3122=) c.8595C>T (p.Gly2865=) c.5967C>T (p.Gly1989=) c.5016C>T (p.Gly1672=) | |
15 | g.28141597G>C | CA489234895 | HERC2 | c.11850C>G (p.Gly3950=) c.3561C>G (p.Gly1187=) c.11736C>G (p.Gly3912=) c.11835C>G (p.Gly3945=) c.11592C>G (p.Gly3864=) c.11367C>G (p.Gly3789=) c.9366C>G (p.Gly3122=) c.8595C>G (p.Gly2865=) c.5967C>G (p.Gly1989=) c.5016C>G (p.Gly1672=) | |
15 | g.28141597G>T | CA489234896 | HERC2 | c.11850C>A (p.Gly3950=) c.3561C>A (p.Gly1187=) c.11736C>A (p.Gly3912=) c.11835C>A (p.Gly3945=) c.11592C>A (p.Gly3864=) c.11367C>A (p.Gly3789=) c.9366C>A (p.Gly3122=) c.8595C>A (p.Gly2865=) c.5967C>A (p.Gly1989=) c.5016C>A (p.Gly1672=) | |
15 | g.28141598C>A | CA391381606 | HERC2 | c.11849G>T (p.Gly3950Val) c.3560G>T (p.Gly1187Val) c.11735G>T (p.Gly3912Val) c.11834G>T (p.Gly3945Val) c.11591G>T (p.Gly3864Val) c.11366G>T (p.Gly3789Val) c.9365G>T (p.Gly3122Val) c.8594G>T (p.Gly2865Val) c.5966G>T (p.Gly1989Val) c.5015G>T (p.Gly1672Val) | |
15 | g.28141598C>G | CA391381608 | HERC2 | c.11849G>C (p.Gly3950Ala) c.3560G>C (p.Gly1187Ala) c.11735G>C (p.Gly3912Ala) c.11834G>C (p.Gly3945Ala) c.11591G>C (p.Gly3864Ala) c.11366G>C (p.Gly3789Ala) c.9365G>C (p.Gly3122Ala) c.8594G>C (p.Gly2865Ala) c.5966G>C (p.Gly1989Ala) c.5015G>C (p.Gly1672Ala) | |
15 | g.28141598C>T | CA391381610 | HERC2 | c.11849G>A (p.Gly3950Asp) c.3560G>A (p.Gly1187Asp) c.11735G>A (p.Gly3912Asp) c.11834G>A (p.Gly3945Asp) c.11591G>A (p.Gly3864Asp) c.11366G>A (p.Gly3789Asp) c.9365G>A (p.Gly3122Asp) c.8594G>A (p.Gly2865Asp) c.5966G>A (p.Gly1989Asp) c.5015G>A (p.Gly1672Asp) | |
15 | g.28141599C>A | CA391381612 | HERC2 | c.11848G>T (p.Gly3950Cys) c.3559G>T (p.Gly1187Cys) c.11734G>T (p.Gly3912Cys) c.11833G>T (p.Gly3945Cys) c.11590G>T (p.Gly3864Cys) c.11365G>T (p.Gly3789Cys) c.9364G>T (p.Gly3122Cys) c.8593G>T (p.Gly2865Cys) c.5965G>T (p.Gly1989Cys) c.5014G>T (p.Gly1672Cys) | |
15 | g.28141599C>G | CA391381613 | HERC2 | c.11848G>C (p.Gly3950Arg) c.3559G>C (p.Gly1187Arg) c.11734G>C (p.Gly3912Arg) c.11833G>C (p.Gly3945Arg) c.11590G>C (p.Gly3864Arg) c.11365G>C (p.Gly3789Arg) c.9364G>C (p.Gly3122Arg) c.8593G>C (p.Gly2865Arg) c.5965G>C (p.Gly1989Arg) c.5014G>C (p.Gly1672Arg) | |
15 | g.28141599C>T | CA391381615 | HERC2 | c.11848G>A (p.Gly3950Ser) c.3559G>A (p.Gly1187Ser) c.11734G>A (p.Gly3912Ser) c.11833G>A (p.Gly3945Ser) c.11590G>A (p.Gly3864Ser) c.11365G>A (p.Gly3789Ser) c.9364G>A (p.Gly3122Ser) c.8593G>A (p.Gly2865Ser) c.5965G>A (p.Gly1989Ser) c.5014G>A (p.Gly1672Ser) | |
15 | g.28141600A= | CA2166479943 | HERC2 | c.11847T= (p.Gly3949=) c.3558T= (p.Gly1186=) c.11733T= (p.Gly3911=) c.11832T= (p.Gly3944=) c.11589T= (p.Gly3863=) c.11364T= (p.Gly3788=) c.9363T= (p.Gly3121=) c.8592T= (p.Gly2864=) c.5964T= (p.Gly1988=) c.5013T= (p.Gly1671=) | |
15 | g.28141600A>C | CA489234901 | HERC2 | c.11847T>G (p.Gly3949=) c.3558T>G (p.Gly1186=) c.11733T>G (p.Gly3911=) c.11832T>G (p.Gly3944=) c.11589T>G (p.Gly3863=) c.11364T>G (p.Gly3788=) c.9363T>G (p.Gly3121=) c.8592T>G (p.Gly2864=) c.5964T>G (p.Gly1988=) c.5013T>G (p.Gly1671=) | |
15 | g.28141600A>G | CA489234903 | HERC2 | c.11847T>C (p.Gly3949=) c.3558T>C (p.Gly1186=) c.11733T>C (p.Gly3911=) c.11832T>C (p.Gly3944=) c.11589T>C (p.Gly3863=) c.11364T>C (p.Gly3788=) c.9363T>C (p.Gly3121=) c.8592T>C (p.Gly2864=) c.5964T>C (p.Gly1988=) c.5013T>C (p.Gly1671=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141600A>T | CA489234902 | HERC2 | c.11847T>A (p.Gly3949=) c.3558T>A (p.Gly1186=) c.11733T>A (p.Gly3911=) c.11832T>A (p.Gly3944=) c.11589T>A (p.Gly3863=) c.11364T>A (p.Gly3788=) c.9363T>A (p.Gly3121=) c.8592T>A (p.Gly2864=) c.5964T>A (p.Gly1988=) c.5013T>A (p.Gly1671=) | |
15 | g.28141601C>A | CA391381617 | HERC2 | c.11846G>T (p.Gly3949Val) c.3557G>T (p.Gly1186Val) c.11732G>T (p.Gly3911Val) c.11831G>T (p.Gly3944Val) c.11588G>T (p.Gly3863Val) c.11363G>T (p.Gly3788Val) c.9362G>T (p.Gly3121Val) c.8591G>T (p.Gly2864Val) c.5963G>T (p.Gly1988Val) c.5012G>T (p.Gly1671Val) | gnomAD v4 |
15 | g.28141601C= | CA2166479945 | HERC2 | c.11846G= (p.Gly3949=) c.3557G= (p.Gly1186=) c.11732G= (p.Gly3911=) c.11831G= (p.Gly3944=) c.11588G= (p.Gly3863=) c.11363G= (p.Gly3788=) c.9362G= (p.Gly3121=) c.8591G= (p.Gly2864=) c.5963G= (p.Gly1988=) c.5012G= (p.Gly1671=) | |
15 | g.28141601C>G | CA391381619 | HERC2 | c.11846G>C (p.Gly3949Ala) c.3557G>C (p.Gly1186Ala) c.11732G>C (p.Gly3911Ala) c.11831G>C (p.Gly3944Ala) c.11588G>C (p.Gly3863Ala) c.11363G>C (p.Gly3788Ala) c.9362G>C (p.Gly3121Ala) c.8591G>C (p.Gly2864Ala) c.5963G>C (p.Gly1988Ala) c.5012G>C (p.Gly1671Ala) | dbSNP gnomAD v2 |
15 | g.28141601C>T | CA391381621 | HERC2 | c.11846G>A (p.Gly3949Asp) c.3557G>A (p.Gly1186Asp) c.11732G>A (p.Gly3911Asp) c.11831G>A (p.Gly3944Asp) c.11588G>A (p.Gly3863Asp) c.11363G>A (p.Gly3788Asp) c.9362G>A (p.Gly3121Asp) c.8591G>A (p.Gly2864Asp) c.5963G>A (p.Gly1988Asp) c.5012G>A (p.Gly1671Asp) | |
15 | g.28141602C>A | CA7440439 | HERC2 | c.11845G>T (p.Gly3949Cys) c.3556G>T (p.Gly1186Cys) c.11731G>T (p.Gly3911Cys) c.11830G>T (p.Gly3944Cys) c.11587G>T (p.Gly3863Cys) c.11362G>T (p.Gly3788Cys) c.9361G>T (p.Gly3121Cys) c.8590G>T (p.Gly2864Cys) c.5962G>T (p.Gly1988Cys) c.5011G>T (p.Gly1671Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141602C= | CA2166479947 | HERC2 | c.11845G= (p.Gly3949=) c.3556G= (p.Gly1186=) c.11731G= (p.Gly3911=) c.11830G= (p.Gly3944=) c.11587G= (p.Gly3863=) c.11362G= (p.Gly3788=) c.9361G= (p.Gly3121=) c.8590G= (p.Gly2864=) c.5962G= (p.Gly1988=) c.5011G= (p.Gly1671=) | |
15 | g.28141602C>G | CA391381623 | HERC2 | c.11845G>C (p.Gly3949Arg) c.3556G>C (p.Gly1186Arg) c.11731G>C (p.Gly3911Arg) c.11830G>C (p.Gly3944Arg) c.11587G>C (p.Gly3863Arg) c.11362G>C (p.Gly3788Arg) c.9361G>C (p.Gly3121Arg) c.8590G>C (p.Gly2864Arg) c.5962G>C (p.Gly1988Arg) c.5011G>C (p.Gly1671Arg) | |
15 | g.28141602C>T | CA391381625 | HERC2 | c.11845G>A (p.Gly3949Ser) c.3556G>A (p.Gly1186Ser) c.11731G>A (p.Gly3911Ser) c.11830G>A (p.Gly3944Ser) c.11587G>A (p.Gly3863Ser) c.11362G>A (p.Gly3788Ser) c.9361G>A (p.Gly3121Ser) c.8590G>A (p.Gly2864Ser) c.5962G>A (p.Gly1988Ser) c.5011G>A (p.Gly1671Ser) | |
15 | g.28141603A= | CA2166479949 | HERC2 | c.11844T= (p.Ala3948=) c.3555T= (p.Ala1185=) c.11730T= (p.Ala3910=) c.11829T= (p.Ala3943=) c.11586T= (p.Ala3862=) c.11361T= (p.Ala3787=) c.9360T= (p.Ala3120=) c.8589T= (p.Ala2863=) c.5961T= (p.Ala1987=) c.5010T= (p.Ala1670=) | |
15 | g.28141603A>C | CA489234909 | HERC2 | c.11844T>G (p.Ala3948=) c.3555T>G (p.Ala1185=) c.11730T>G (p.Ala3910=) c.11829T>G (p.Ala3943=) c.11586T>G (p.Ala3862=) c.11361T>G (p.Ala3787=) c.9360T>G (p.Ala3120=) c.8589T>G (p.Ala2863=) c.5961T>G (p.Ala1987=) c.5010T>G (p.Ala1670=) | |
15 | g.28141603A>G | CA7440440 | HERC2 | c.11844T>C (p.Ala3948=) c.3555T>C (p.Ala1185=) c.11730T>C (p.Ala3910=) c.11829T>C (p.Ala3943=) c.11586T>C (p.Ala3862=) c.11361T>C (p.Ala3787=) c.9360T>C (p.Ala3120=) c.8589T>C (p.Ala2863=) c.5961T>C (p.Ala1987=) c.5010T>C (p.Ala1670=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141603A>T | CA489234910 | HERC2 | c.11844T>A (p.Ala3948=) c.3555T>A (p.Ala1185=) c.11730T>A (p.Ala3910=) c.11829T>A (p.Ala3943=) c.11586T>A (p.Ala3862=) c.11361T>A (p.Ala3787=) c.9360T>A (p.Ala3120=) c.8589T>A (p.Ala2863=) c.5961T>A (p.Ala1987=) c.5010T>A (p.Ala1670=) | |
15 | g.28141604G>A | CA391381632 | HERC2 | c.11843C>T (p.Ala3948Val) c.3554C>T (p.Ala1185Val) c.11729C>T (p.Ala3910Val) c.11828C>T (p.Ala3943Val) c.11585C>T (p.Ala3862Val) c.11360C>T (p.Ala3787Val) c.9359C>T (p.Ala3120Val) c.8588C>T (p.Ala2863Val) c.5960C>T (p.Ala1987Val) c.5009C>T (p.Ala1670Val) | |
15 | g.28141604G>C | CA391381630 | HERC2 | c.11843C>G (p.Ala3948Gly) c.3554C>G (p.Ala1185Gly) c.11729C>G (p.Ala3910Gly) c.11828C>G (p.Ala3943Gly) c.11585C>G (p.Ala3862Gly) c.11360C>G (p.Ala3787Gly) c.9359C>G (p.Ala3120Gly) c.8588C>G (p.Ala2863Gly) c.5960C>G (p.Ala1987Gly) c.5009C>G (p.Ala1670Gly) | |
15 | g.28141604G>T | CA391381628 | HERC2 | c.11843C>A (p.Ala3948Asp) c.3554C>A (p.Ala1185Asp) c.11729C>A (p.Ala3910Asp) c.11828C>A (p.Ala3943Asp) c.11585C>A (p.Ala3862Asp) c.11360C>A (p.Ala3787Asp) c.9359C>A (p.Ala3120Asp) c.8588C>A (p.Ala2863Asp) c.5960C>A (p.Ala1987Asp) c.5009C>A (p.Ala1670Asp) | |
15 | g.28141605C>A | CA391381634 | HERC2 | c.11842G>T (p.Ala3948Ser) c.3553G>T (p.Ala1185Ser) c.11728G>T (p.Ala3910Ser) c.11827G>T (p.Ala3943Ser) c.11584G>T (p.Ala3862Ser) c.11359G>T (p.Ala3787Ser) c.9358G>T (p.Ala3120Ser) c.8587G>T (p.Ala2863Ser) c.5959G>T (p.Ala1987Ser) c.5008G>T (p.Ala1670Ser) | dbSNP |
15 | g.28141605C>G | CA391381636 | HERC2 | c.11842G>C (p.Ala3948Pro) c.3553G>C (p.Ala1185Pro) c.11728G>C (p.Ala3910Pro) c.11827G>C (p.Ala3943Pro) c.11584G>C (p.Ala3862Pro) c.11359G>C (p.Ala3787Pro) c.9358G>C (p.Ala3120Pro) c.8587G>C (p.Ala2863Pro) c.5959G>C (p.Ala1987Pro) c.5008G>C (p.Ala1670Pro) | |
15 | g.28141605C>T | CA391381637 | HERC2 | c.11842G>A (p.Ala3948Thr) c.3553G>A (p.Ala1185Thr) c.11728G>A (p.Ala3910Thr) c.11827G>A (p.Ala3943Thr) c.11584G>A (p.Ala3862Thr) c.11359G>A (p.Ala3787Thr) c.9358G>A (p.Ala3120Thr) c.8587G>A (p.Ala2863Thr) c.5959G>A (p.Ala1987Thr) c.5008G>A (p.Ala1670Thr) | |
15 | g.28141605_28141607delinsCAG | CA2166479952 | HERC2 | c.11840_11842delinsCTG (p.Ser3947=) c.3551_3553delinsCTG (p.Ser1184=) c.11726_11728delinsCTG (p.Ser3909=) c.11825_11827delinsCTG (p.Ser3942=) c.11582_11584delinsCTG (p.Ser3861=) c.11357_11359delinsCTG (p.Ser3786=) c.9356_9358delinsCTG (p.Ser3119=) c.8585_8587delinsCTG (p.Ser2862=) c.5957_5959delinsCTG (p.Ser1986=) c.5006_5008delinsCTG (p.Ser1669=) | |
15 | g.28141606A>C | CA489234925 | HERC2 | c.11841T>G (p.Ser3947=) c.3552T>G (p.Ser1184=) c.11727T>G (p.Ser3909=) c.11826T>G (p.Ser3942=) c.11583T>G (p.Ser3861=) c.11358T>G (p.Ser3786=) c.9357T>G (p.Ser3119=) c.8586T>G (p.Ser2862=) c.5958T>G (p.Ser1986=) c.5007T>G (p.Ser1669=) | |
15 | g.28141606A>G | CA489234923 | HERC2 | c.11841T>C (p.Ser3947=) c.3552T>C (p.Ser1184=) c.11727T>C (p.Ser3909=) c.11826T>C (p.Ser3942=) c.11583T>C (p.Ser3861=) c.11358T>C (p.Ser3786=) c.9357T>C (p.Ser3119=) c.8586T>C (p.Ser2862=) c.5958T>C (p.Ser1986=) c.5007T>C (p.Ser1669=) | |
15 | g.28141606A>T | CA489234921 | HERC2 | c.11841T>A (p.Ser3947=) c.3552T>A (p.Ser1184=) c.11727T>A (p.Ser3909=) c.11826T>A (p.Ser3942=) c.11583T>A (p.Ser3861=) c.11358T>A (p.Ser3786=) c.9357T>A (p.Ser3119=) c.8586T>A (p.Ser2862=) c.5958T>A (p.Ser1986=) c.5007T>A (p.Ser1669=) | |
15 | g.28141612_28141613del | CA489234922 | HERC2 | c.11840_11841del (p.Ser3947CysfsTer13) c.3551_3552del (p.Ser1184CysfsTer13) c.11726_11727del (p.Ser3909CysfsTer13) c.11825_11826del (p.Ser3942CysfsTer13) c.11582_11583del (p.Ser3861CysfsTer13) c.11357_11358del (p.Ser3786CysfsTer13) c.9356_9357del (p.Ser3119CysfsTer13) c.8585_8586del (p.Ser2862CysfsTer13) c.5957_5958del (p.Ser1986CysfsTer13) c.5006_5007del (p.Ser1669CysfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.28141607G>A | CA391381639 | HERC2 | c.11840C>T (p.Ser3947Phe) c.3551C>T (p.Ser1184Phe) c.11726C>T (p.Ser3909Phe) c.11825C>T (p.Ser3942Phe) c.11582C>T (p.Ser3861Phe) c.11357C>T (p.Ser3786Phe) c.9356C>T (p.Ser3119Phe) c.8585C>T (p.Ser2862Phe) c.5957C>T (p.Ser1986Phe) c.5006C>T (p.Ser1669Phe) | |
15 | g.28141607G>C | CA391381641 | HERC2 | c.11840C>G (p.Ser3947Cys) c.3551C>G (p.Ser1184Cys) c.11726C>G (p.Ser3909Cys) c.11825C>G (p.Ser3942Cys) c.11582C>G (p.Ser3861Cys) c.11357C>G (p.Ser3786Cys) c.9356C>G (p.Ser3119Cys) c.8585C>G (p.Ser2862Cys) c.5957C>G (p.Ser1986Cys) c.5006C>G (p.Ser1669Cys) | gnomAD v4 |
15 | g.28141607G>T | CA391381643 | HERC2 | c.11840C>A (p.Ser3947Tyr) c.3551C>A (p.Ser1184Tyr) c.11726C>A (p.Ser3909Tyr) c.11825C>A (p.Ser3942Tyr) c.11582C>A (p.Ser3861Tyr) c.11357C>A (p.Ser3786Tyr) c.9356C>A (p.Ser3119Tyr) c.8585C>A (p.Ser2862Tyr) c.5957C>A (p.Ser1986Tyr) c.5006C>A (p.Ser1669Tyr) | |
15 | g.28141608A>C | CA391381645 | HERC2 | c.11839T>G (p.Ser3947Ala) c.3550T>G (p.Ser1184Ala) c.11725T>G (p.Ser3909Ala) c.11824T>G (p.Ser3942Ala) c.11581T>G (p.Ser3861Ala) c.11356T>G (p.Ser3786Ala) c.9355T>G (p.Ser3119Ala) c.8584T>G (p.Ser2862Ala) c.5956T>G (p.Ser1986Ala) c.5005T>G (p.Ser1669Ala) | |
15 | g.28141608A>G | CA391381646 | HERC2 | c.11839T>C (p.Ser3947Pro) c.3550T>C (p.Ser1184Pro) c.11725T>C (p.Ser3909Pro) c.11824T>C (p.Ser3942Pro) c.11581T>C (p.Ser3861Pro) c.11356T>C (p.Ser3786Pro) c.9355T>C (p.Ser3119Pro) c.8584T>C (p.Ser2862Pro) c.5956T>C (p.Ser1986Pro) c.5005T>C (p.Ser1669Pro) | gnomAD v4 |
15 | g.28141608A>T | CA391381648 | HERC2 | c.11839T>A (p.Ser3947Thr) c.3550T>A (p.Ser1184Thr) c.11725T>A (p.Ser3909Thr) c.11824T>A (p.Ser3942Thr) c.11581T>A (p.Ser3861Thr) c.11356T>A (p.Ser3786Thr) c.9355T>A (p.Ser3119Thr) c.8584T>A (p.Ser2862Thr) c.5956T>A (p.Ser1986Thr) c.5005T>A (p.Ser1669Thr) | gnomAD v4 |
15 | g.28141609G>A | CA7440441 | HERC2 | c.11838C>T (p.Leu3946=) c.3549C>T (p.Leu1183=) c.11724C>T (p.Leu3908=) c.11823C>T (p.Leu3941=) c.11580C>T (p.Leu3860=) c.11355C>T (p.Leu3785=) c.9354C>T (p.Leu3118=) c.8583C>T (p.Leu2861=) c.5955C>T (p.Leu1985=) c.5004C>T (p.Leu1668=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141609G>C | CA489234934 | HERC2 | c.11838C>G (p.Leu3946=) c.3549C>G (p.Leu1183=) c.11724C>G (p.Leu3908=) c.11823C>G (p.Leu3941=) c.11580C>G (p.Leu3860=) c.11355C>G (p.Leu3785=) c.9354C>G (p.Leu3118=) c.8583C>G (p.Leu2861=) c.5955C>G (p.Leu1985=) c.5004C>G (p.Leu1668=) | |
15 | g.28141609G= | CA2166479955 | HERC2 | c.11838C= (p.Leu3946=) c.3549C= (p.Leu1183=) c.11724C= (p.Leu3908=) c.11823C= (p.Leu3941=) c.11580C= (p.Leu3860=) c.11355C= (p.Leu3785=) c.9354C= (p.Leu3118=) c.8583C= (p.Leu2861=) c.5955C= (p.Leu1985=) c.5004C= (p.Leu1668=) | |
15 | g.28141609G>T | CA489234935 | HERC2 | c.11838C>A (p.Leu3946=) c.3549C>A (p.Leu1183=) c.11724C>A (p.Leu3908=) c.11823C>A (p.Leu3941=) c.11580C>A (p.Leu3860=) c.11355C>A (p.Leu3785=) c.9354C>A (p.Leu3118=) c.8583C>A (p.Leu2861=) c.5955C>A (p.Leu1985=) c.5004C>A (p.Leu1668=) | |
15 | g.28141610A>C | CA391381650 | HERC2 | c.11837T>G (p.Leu3946Arg) c.3548T>G (p.Leu1183Arg) c.11723T>G (p.Leu3908Arg) c.11822T>G (p.Leu3941Arg) c.11579T>G (p.Leu3860Arg) c.11354T>G (p.Leu3785Arg) c.9353T>G (p.Leu3118Arg) c.8582T>G (p.Leu2861Arg) c.5954T>G (p.Leu1985Arg) c.5003T>G (p.Leu1668Arg) | |
15 | g.28141610A>G | CA391381651 | HERC2 | c.11837T>C (p.Leu3946Pro) c.3548T>C (p.Leu1183Pro) c.11723T>C (p.Leu3908Pro) c.11822T>C (p.Leu3941Pro) c.11579T>C (p.Leu3860Pro) c.11354T>C (p.Leu3785Pro) c.9353T>C (p.Leu3118Pro) c.8582T>C (p.Leu2861Pro) c.5954T>C (p.Leu1985Pro) c.5003T>C (p.Leu1668Pro) | |
15 | g.28141610A>T | CA391381652 | HERC2 | c.11837T>A (p.Leu3946His) c.3548T>A (p.Leu1183His) c.11723T>A (p.Leu3908His) c.11822T>A (p.Leu3941His) c.11579T>A (p.Leu3860His) c.11354T>A (p.Leu3785His) c.9353T>A (p.Leu3118His) c.8582T>A (p.Leu2861His) c.5954T>A (p.Leu1985His) c.5003T>A (p.Leu1668His) | |
15 | g.28141610dup | CA2166479957 | HERC2 | c.11837dup (p.Ser3947LeufsTer14) c.3548dup (p.Ser1184LeufsTer14) c.11723dup (p.Ser3909LeufsTer14) c.11822dup (p.Ser3942LeufsTer14) c.11579dup (p.Ser3861LeufsTer14) c.11354dup (p.Ser3786LeufsTer14) c.9353dup (p.Ser3119LeufsTer14) c.8582dup (p.Ser2862LeufsTer14) c.5954dup (p.Ser1986LeufsTer14) c.5003dup (p.Ser1669LeufsTer14) | dbSNP |
15 | g.28141611G>A | CA391381657 | HERC2 | c.11836C>T (p.Leu3946Phe) c.3547C>T (p.Leu1183Phe) c.11722C>T (p.Leu3908Phe) c.11821C>T (p.Leu3941Phe) c.11578C>T (p.Leu3860Phe) c.11353C>T (p.Leu3785Phe) c.9352C>T (p.Leu3118Phe) c.8581C>T (p.Leu2861Phe) c.5953C>T (p.Leu1985Phe) c.5002C>T (p.Leu1668Phe) | |
15 | g.28141611G>C | CA7440442 | HERC2 | c.11836C>G (p.Leu3946Val) c.3547C>G (p.Leu1183Val) c.11722C>G (p.Leu3908Val) c.11821C>G (p.Leu3941Val) c.11578C>G (p.Leu3860Val) c.11353C>G (p.Leu3785Val) c.9352C>G (p.Leu3118Val) c.8581C>G (p.Leu2861Val) c.5953C>G (p.Leu1985Val) c.5002C>G (p.Leu1668Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141611G= | CA2166479960 | HERC2 | c.11836C= (p.Leu3946=) c.3547C= (p.Leu1183=) c.11722C= (p.Leu3908=) c.11821C= (p.Leu3941=) c.11578C= (p.Leu3860=) c.11353C= (p.Leu3785=) c.9352C= (p.Leu3118=) c.8581C= (p.Leu2861=) c.5953C= (p.Leu1985=) c.5002C= (p.Leu1668=) | |
15 | g.28141611G>T | CA391381655 | HERC2 | c.11836C>A (p.Leu3946Ile) c.3547C>A (p.Leu1183Ile) c.11722C>A (p.Leu3908Ile) c.11821C>A (p.Leu3941Ile) c.11578C>A (p.Leu3860Ile) c.11353C>A (p.Leu3785Ile) c.9352C>A (p.Leu3118Ile) c.8581C>A (p.Leu2861Ile) c.5953C>A (p.Leu1985Ile) c.5002C>A (p.Leu1668Ile) | |
15 | g.28141612A= | CA2166479963 | HERC2 | c.11835T= (p.Thr3945=) c.3546T= (p.Thr1182=) c.11721T= (p.Thr3907=) c.11820T= (p.Thr3940=) c.11577T= (p.Thr3859=) c.11352T= (p.Thr3784=) c.9351T= (p.Thr3117=) c.8580T= (p.Thr2860=) c.5952T= (p.Thr1984=) c.5001T= (p.Thr1667=) | |
15 | g.28141612A>C | CA489234938 | HERC2 | c.11835T>G (p.Thr3945=) c.3546T>G (p.Thr1182=) c.11721T>G (p.Thr3907=) c.11820T>G (p.Thr3940=) c.11577T>G (p.Thr3859=) c.11352T>G (p.Thr3784=) c.9351T>G (p.Thr3117=) c.8580T>G (p.Thr2860=) c.5952T>G (p.Thr1984=) c.5001T>G (p.Thr1667=) | |
15 | g.28141612A>G | CA267946185 | HERC2 | c.11835T>C (p.Thr3945=) c.3546T>C (p.Thr1182=) c.11721T>C (p.Thr3907=) c.11820T>C (p.Thr3940=) c.11577T>C (p.Thr3859=) c.11352T>C (p.Thr3784=) c.9351T>C (p.Thr3117=) c.8580T>C (p.Thr2860=) c.5952T>C (p.Thr1984=) c.5001T>C (p.Thr1667=) | ClinVar dbSNP gnomAD v4 |
15 | g.28141612A>T | CA489234939 | HERC2 | c.11835T>A (p.Thr3945=) c.3546T>A (p.Thr1182=) c.11721T>A (p.Thr3907=) c.11820T>A (p.Thr3940=) c.11577T>A (p.Thr3859=) c.11352T>A (p.Thr3784=) c.9351T>A (p.Thr3117=) c.8580T>A (p.Thr2860=) c.5952T>A (p.Thr1984=) c.5001T>A (p.Thr1667=) | |
15 | g.28141613G>A | CA391381661 | HERC2 | c.11834C>T (p.Thr3945Ile) c.3545C>T (p.Thr1182Ile) c.11720C>T (p.Thr3907Ile) c.11819C>T (p.Thr3940Ile) c.11576C>T (p.Thr3859Ile) c.11351C>T (p.Thr3784Ile) c.9350C>T (p.Thr3117Ile) c.8579C>T (p.Thr2860Ile) c.5951C>T (p.Thr1984Ile) c.5000C>T (p.Thr1667Ile) | gnomAD v4 |
15 | g.28141613G>C | CA391381662 | HERC2 | c.11834C>G (p.Thr3945Ser) c.3545C>G (p.Thr1182Ser) c.11720C>G (p.Thr3907Ser) c.11819C>G (p.Thr3940Ser) c.11576C>G (p.Thr3859Ser) c.11351C>G (p.Thr3784Ser) c.9350C>G (p.Thr3117Ser) c.8579C>G (p.Thr2860Ser) c.5951C>G (p.Thr1984Ser) c.5000C>G (p.Thr1667Ser) | |
15 | g.28141613G= | CA2166479965 | HERC2 | c.11834C= (p.Thr3945=) c.3545C= (p.Thr1182=) c.11720C= (p.Thr3907=) c.11819C= (p.Thr3940=) c.11576C= (p.Thr3859=) c.11351C= (p.Thr3784=) c.9350C= (p.Thr3117=) c.8579C= (p.Thr2860=) c.5951C= (p.Thr1984=) c.5000C= (p.Thr1667=) | |
15 | g.28141613G>T | CA391381663 | HERC2 | c.11834C>A (p.Thr3945Asn) c.3545C>A (p.Thr1182Asn) c.11720C>A (p.Thr3907Asn) c.11819C>A (p.Thr3940Asn) c.11576C>A (p.Thr3859Asn) c.11351C>A (p.Thr3784Asn) c.9350C>A (p.Thr3117Asn) c.8579C>A (p.Thr2860Asn) c.5951C>A (p.Thr1984Asn) c.5000C>A (p.Thr1667Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141614T>A | CA391381665 | HERC2 | c.11833A>T (p.Thr3945Ser) c.3544A>T (p.Thr1182Ser) c.11719A>T (p.Thr3907Ser) c.11818A>T (p.Thr3940Ser) c.11575A>T (p.Thr3859Ser) c.11350A>T (p.Thr3784Ser) c.9349A>T (p.Thr3117Ser) c.8578A>T (p.Thr2860Ser) c.5950A>T (p.Thr1984Ser) c.4999A>T (p.Thr1667Ser) | |
15 | g.28141614T>C | CA391381666 | HERC2 | c.11833A>G (p.Thr3945Ala) c.3544A>G (p.Thr1182Ala) c.11719A>G (p.Thr3907Ala) c.11818A>G (p.Thr3940Ala) c.11575A>G (p.Thr3859Ala) c.11350A>G (p.Thr3784Ala) c.9349A>G (p.Thr3117Ala) c.8578A>G (p.Thr2860Ala) c.5950A>G (p.Thr1984Ala) c.4999A>G (p.Thr1667Ala) | |
15 | g.28141614T>G | CA391381668 | HERC2 | c.11833A>C (p.Thr3945Pro) c.3544A>C (p.Thr1182Pro) c.11719A>C (p.Thr3907Pro) c.11818A>C (p.Thr3940Pro) c.11575A>C (p.Thr3859Pro) c.11350A>C (p.Thr3784Pro) c.9349A>C (p.Thr3117Pro) c.8578A>C (p.Thr2860Pro) c.5950A>C (p.Thr1984Pro) c.4999A>C (p.Thr1667Pro) | |
15 | g.28141615C>A | CA391381670 | HERC2 | c.11832G>T (p.Trp3944Cys) c.3543G>T (p.Trp1181Cys) c.11718G>T (p.Trp3906Cys) c.11817G>T (p.Trp3939Cys) c.11574G>T (p.Trp3858Cys) c.11349G>T (p.Trp3783Cys) c.9348G>T (p.Trp3116Cys) c.8577G>T (p.Trp2859Cys) c.5949G>T (p.Trp1983Cys) c.4998G>T (p.Trp1666Cys) | |
15 | g.28141615C>G | CA391381672 | HERC2 | c.11832G>C (p.Trp3944Cys) c.3543G>C (p.Trp1181Cys) c.11718G>C (p.Trp3906Cys) c.11817G>C (p.Trp3939Cys) c.11574G>C (p.Trp3858Cys) c.11349G>C (p.Trp3783Cys) c.9348G>C (p.Trp3116Cys) c.8577G>C (p.Trp2859Cys) c.5949G>C (p.Trp1983Cys) c.4998G>C (p.Trp1666Cys) | |
15 | g.28141615C>T | CA391381673 | HERC2 | c.11832G>A (p.Trp3944Ter) c.3543G>A (p.Trp1181Ter) c.11718G>A (p.Trp3906Ter) c.11817G>A (p.Trp3939Ter) c.11574G>A (p.Trp3858Ter) c.11349G>A (p.Trp3783Ter) c.9348G>A (p.Trp3116Ter) c.8577G>A (p.Trp2859Ter) c.5949G>A (p.Trp1983Ter) c.4998G>A (p.Trp1666Ter) | |
15 | g.28141616C>A | CA391381675 | HERC2 | c.11831G>T (p.Trp3944Leu) c.3542G>T (p.Trp1181Leu) c.11717G>T (p.Trp3906Leu) c.11816G>T (p.Trp3939Leu) c.11573G>T (p.Trp3858Leu) c.11348G>T (p.Trp3783Leu) c.9347G>T (p.Trp3116Leu) c.8576G>T (p.Trp2859Leu) c.5948G>T (p.Trp1983Leu) c.4997G>T (p.Trp1666Leu) | gnomAD v4 |
15 | g.28141616C>G | CA391381677 | HERC2 | c.11831G>C (p.Trp3944Ser) c.3542G>C (p.Trp1181Ser) c.11717G>C (p.Trp3906Ser) c.11816G>C (p.Trp3939Ser) c.11573G>C (p.Trp3858Ser) c.11348G>C (p.Trp3783Ser) c.9347G>C (p.Trp3116Ser) c.8576G>C (p.Trp2859Ser) c.5948G>C (p.Trp1983Ser) c.4997G>C (p.Trp1666Ser) | |
15 | g.28141616C>T | CA391381678 | HERC2 | c.11831G>A (p.Trp3944Ter) c.3542G>A (p.Trp1181Ter) c.11717G>A (p.Trp3906Ter) c.11816G>A (p.Trp3939Ter) c.11573G>A (p.Trp3858Ter) c.11348G>A (p.Trp3783Ter) c.9347G>A (p.Trp3116Ter) c.8576G>A (p.Trp2859Ter) c.5948G>A (p.Trp1983Ter) c.4997G>A (p.Trp1666Ter) | |
15 | g.28141617A>C | CA391381680 | HERC2 | c.11830T>G (p.Trp3944Gly) c.3541T>G (p.Trp1181Gly) c.11716T>G (p.Trp3906Gly) c.11815T>G (p.Trp3939Gly) c.11572T>G (p.Trp3858Gly) c.11347T>G (p.Trp3783Gly) c.9346T>G (p.Trp3116Gly) c.8575T>G (p.Trp2859Gly) c.5947T>G (p.Trp1983Gly) c.4996T>G (p.Trp1666Gly) | |
15 | g.28141617A>G | CA391381683 | HERC2 | c.11830T>C (p.Trp3944Arg) c.3541T>C (p.Trp1181Arg) c.11716T>C (p.Trp3906Arg) c.11815T>C (p.Trp3939Arg) c.11572T>C (p.Trp3858Arg) c.11347T>C (p.Trp3783Arg) c.9346T>C (p.Trp3116Arg) c.8575T>C (p.Trp2859Arg) c.5947T>C (p.Trp1983Arg) c.4996T>C (p.Trp1666Arg) | |
15 | g.28141617A>T | CA391381681 | HERC2 | c.11830T>A (p.Trp3944Arg) c.3541T>A (p.Trp1181Arg) c.11716T>A (p.Trp3906Arg) c.11815T>A (p.Trp3939Arg) c.11572T>A (p.Trp3858Arg) c.11347T>A (p.Trp3783Arg) c.9346T>A (p.Trp3116Arg) c.8575T>A (p.Trp2859Arg) c.5947T>A (p.Trp1983Arg) c.4996T>A (p.Trp1666Arg) | |
15 | g.28141618G>A | CA489234945 | HERC2 | c.11829C>T (p.Asp3943=) c.3540C>T (p.Asp1180=) c.11715C>T (p.Asp3905=) c.11814C>T (p.Asp3938=) c.11571C>T (p.Asp3857=) c.11346C>T (p.Asp3782=) c.9345C>T (p.Asp3115=) c.8574C>T (p.Asp2858=) c.5946C>T (p.Asp1982=) c.4995C>T (p.Asp1665=) | dbSNP |
15 | g.28141618G>C | CA391381685 | HERC2 | c.11829C>G (p.Asp3943Glu) c.3540C>G (p.Asp1180Glu) c.11715C>G (p.Asp3905Glu) c.11814C>G (p.Asp3938Glu) c.11571C>G (p.Asp3857Glu) c.11346C>G (p.Asp3782Glu) c.9345C>G (p.Asp3115Glu) c.8574C>G (p.Asp2858Glu) c.5946C>G (p.Asp1982Glu) c.4995C>G (p.Asp1665Glu) | dbSNP gnomAD v4 |
15 | g.28141618G= | CA2166479967 | HERC2 | c.11829C= (p.Asp3943=) c.3540C= (p.Asp1180=) c.11715C= (p.Asp3905=) c.11814C= (p.Asp3938=) c.11571C= (p.Asp3857=) c.11346C= (p.Asp3782=) c.9345C= (p.Asp3115=) c.8574C= (p.Asp2858=) c.5946C= (p.Asp1982=) c.4995C= (p.Asp1665=) | |
15 | g.28141618G>T | CA391381686 | HERC2 | c.11829C>A (p.Asp3943Glu) c.3540C>A (p.Asp1180Glu) c.11715C>A (p.Asp3905Glu) c.11814C>A (p.Asp3938Glu) c.11571C>A (p.Asp3857Glu) c.11346C>A (p.Asp3782Glu) c.9345C>A (p.Asp3115Glu) c.8574C>A (p.Asp2858Glu) c.5946C>A (p.Asp1982Glu) c.4995C>A (p.Asp1665Glu) | |
15 | g.28141619T>A | CA391381688 | HERC2 | c.11828A>T (p.Asp3943Val) c.3539A>T (p.Asp1180Val) c.11714A>T (p.Asp3905Val) c.11813A>T (p.Asp3938Val) c.11570A>T (p.Asp3857Val) c.11345A>T (p.Asp3782Val) c.9344A>T (p.Asp3115Val) c.8573A>T (p.Asp2858Val) c.5945A>T (p.Asp1982Val) c.4994A>T (p.Asp1665Val) | |
15 | g.28141619T>C | CA391381690 | HERC2 | c.11828A>G (p.Asp3943Gly) c.3539A>G (p.Asp1180Gly) c.11714A>G (p.Asp3905Gly) c.11813A>G (p.Asp3938Gly) c.11570A>G (p.Asp3857Gly) c.11345A>G (p.Asp3782Gly) c.9344A>G (p.Asp3115Gly) c.8573A>G (p.Asp2858Gly) c.5945A>G (p.Asp1982Gly) c.4994A>G (p.Asp1665Gly) | |
15 | g.28141619T>G | CA391381692 | HERC2 | c.11828A>C (p.Asp3943Ala) c.3539A>C (p.Asp1180Ala) c.11714A>C (p.Asp3905Ala) c.11813A>C (p.Asp3938Ala) c.11570A>C (p.Asp3857Ala) c.11345A>C (p.Asp3782Ala) c.9344A>C (p.Asp3115Ala) c.8573A>C (p.Asp2858Ala) c.5945A>C (p.Asp1982Ala) c.4994A>C (p.Asp1665Ala) | |
15 | g.28141620C>A | CA391381694 | HERC2 | c.11827G>T (p.Asp3943Tyr) c.3538G>T (p.Asp1180Tyr) c.11713G>T (p.Asp3905Tyr) c.11812G>T (p.Asp3938Tyr) c.11569G>T (p.Asp3857Tyr) c.11344G>T (p.Asp3782Tyr) c.9343G>T (p.Asp3115Tyr) c.8572G>T (p.Asp2858Tyr) c.5944G>T (p.Asp1982Tyr) c.4993G>T (p.Asp1665Tyr) | |
15 | g.28141620C>G | CA391381696 | HERC2 | c.11827G>C (p.Asp3943His) c.3538G>C (p.Asp1180His) c.11713G>C (p.Asp3905His) c.11812G>C (p.Asp3938His) c.11569G>C (p.Asp3857His) c.11344G>C (p.Asp3782His) c.9343G>C (p.Asp3115His) c.8572G>C (p.Asp2858His) c.5944G>C (p.Asp1982His) c.4993G>C (p.Asp1665His) | |
15 | g.28141620C>T | CA391381698 | HERC2 | c.11827G>A (p.Asp3943Asn) c.3538G>A (p.Asp1180Asn) c.11713G>A (p.Asp3905Asn) c.11812G>A (p.Asp3938Asn) c.11569G>A (p.Asp3857Asn) c.11344G>A (p.Asp3782Asn) c.9343G>A (p.Asp3115Asn) c.8572G>A (p.Asp2858Asn) c.5944G>A (p.Asp1982Asn) c.4993G>A (p.Asp1665Asn) | |
15 | g.28141621A>C | CA391381699 | HERC2 | c.11826T>G (p.Asp3942Glu) c.3537T>G (p.Asp1179Glu) c.11712T>G (p.Asp3904Glu) c.11811T>G (p.Asp3937Glu) c.11568T>G (p.Asp3856Glu) c.11343T>G (p.Asp3781Glu) c.9342T>G (p.Asp3114Glu) c.8571T>G (p.Asp2857Glu) c.5943T>G (p.Asp1981Glu) c.4992T>G (p.Asp1664Glu) | |
15 | g.28141621A>G | CA489234948 | HERC2 | c.11826T>C (p.Asp3942=) c.3537T>C (p.Asp1179=) c.11712T>C (p.Asp3904=) c.11811T>C (p.Asp3937=) c.11568T>C (p.Asp3856=) c.11343T>C (p.Asp3781=) c.9342T>C (p.Asp3114=) c.8571T>C (p.Asp2857=) c.5943T>C (p.Asp1981=) c.4992T>C (p.Asp1664=) | |
15 | g.28141621A>T | CA391381701 | HERC2 | c.11826T>A (p.Asp3942Glu) c.3537T>A (p.Asp1179Glu) c.11712T>A (p.Asp3904Glu) c.11811T>A (p.Asp3937Glu) c.11568T>A (p.Asp3856Glu) c.11343T>A (p.Asp3781Glu) c.9342T>A (p.Asp3114Glu) c.8571T>A (p.Asp2857Glu) c.5943T>A (p.Asp1981Glu) c.4992T>A (p.Asp1664Glu) | |
15 | g.28141622T>A | CA391381705 | HERC2 | c.11825A>T (p.Asp3942Val) c.3536A>T (p.Asp1179Val) c.11711A>T (p.Asp3904Val) c.11810A>T (p.Asp3937Val) c.11567A>T (p.Asp3856Val) c.11342A>T (p.Asp3781Val) c.9341A>T (p.Asp3114Val) c.8570A>T (p.Asp2857Val) c.5942A>T (p.Asp1981Val) c.4991A>T (p.Asp1664Val) | |
15 | g.28141622T>C | CA391381707 | HERC2 | c.11825A>G (p.Asp3942Gly) c.3536A>G (p.Asp1179Gly) c.11711A>G (p.Asp3904Gly) c.11810A>G (p.Asp3937Gly) c.11567A>G (p.Asp3856Gly) c.11342A>G (p.Asp3781Gly) c.9341A>G (p.Asp3114Gly) c.8570A>G (p.Asp2857Gly) c.5942A>G (p.Asp1981Gly) c.4991A>G (p.Asp1664Gly) | |
15 | g.28141622T>G | CA391381703 | HERC2 | c.11825A>C (p.Asp3942Ala) c.3536A>C (p.Asp1179Ala) c.11711A>C (p.Asp3904Ala) c.11810A>C (p.Asp3937Ala) c.11567A>C (p.Asp3856Ala) c.11342A>C (p.Asp3781Ala) c.9341A>C (p.Asp3114Ala) c.8570A>C (p.Asp2857Ala) c.5942A>C (p.Asp1981Ala) c.4991A>C (p.Asp1664Ala) | |
15 | g.28141623C>A | CA391381710 | HERC2 | c.11824G>T (p.Asp3942Tyr) c.3535G>T (p.Asp1179Tyr) c.11710G>T (p.Asp3904Tyr) c.11809G>T (p.Asp3937Tyr) c.11566G>T (p.Asp3856Tyr) c.11341G>T (p.Asp3781Tyr) c.9340G>T (p.Asp3114Tyr) c.8569G>T (p.Asp2857Tyr) c.5941G>T (p.Asp1981Tyr) c.4990G>T (p.Asp1664Tyr) | gnomAD v4 COSMIC COSMIC |
15 | g.28141623C>G | CA391381709 | HERC2 | c.11824G>C (p.Asp3942His) c.3535G>C (p.Asp1179His) c.11710G>C (p.Asp3904His) c.11809G>C (p.Asp3937His) c.11566G>C (p.Asp3856His) c.11341G>C (p.Asp3781His) c.9340G>C (p.Asp3114His) c.8569G>C (p.Asp2857His) c.5941G>C (p.Asp1981His) c.4990G>C (p.Asp1664His) | |
15 | g.28141623C>T | CA391381712 | HERC2 | c.11824G>A (p.Asp3942Asn) c.3535G>A (p.Asp1179Asn) c.11710G>A (p.Asp3904Asn) c.11809G>A (p.Asp3937Asn) c.11566G>A (p.Asp3856Asn) c.11341G>A (p.Asp3781Asn) c.9340G>A (p.Asp3114Asn) c.8569G>A (p.Asp2857Asn) c.5941G>A (p.Asp1981Asn) c.4990G>A (p.Asp1664Asn) | |
15 | g.28141624T>A | CA489234953 | HERC2 | c.11823A>T (p.Pro3941=) c.3534A>T (p.Pro1178=) c.11709A>T (p.Pro3903=) c.11808A>T (p.Pro3936=) c.11565A>T (p.Pro3855=) c.11340A>T (p.Pro3780=) c.9339A>T (p.Pro3113=) c.8568A>T (p.Pro2856=) c.5940A>T (p.Pro1980=) c.4989A>T (p.Pro1663=) | |
15 | g.28141624T>C | CA489234954 | HERC2 | c.11823A>G (p.Pro3941=) c.3534A>G (p.Pro1178=) c.11709A>G (p.Pro3903=) c.11808A>G (p.Pro3936=) c.11565A>G (p.Pro3855=) c.11340A>G (p.Pro3780=) c.9339A>G (p.Pro3113=) c.8568A>G (p.Pro2856=) c.5940A>G (p.Pro1980=) c.4989A>G (p.Pro1663=) | gnomAD v4 |
15 | g.28141624T>G | CA489234955 | HERC2 | c.11823A>C (p.Pro3941=) c.3534A>C (p.Pro1178=) c.11709A>C (p.Pro3903=) c.11808A>C (p.Pro3936=) c.11565A>C (p.Pro3855=) c.11340A>C (p.Pro3780=) c.9339A>C (p.Pro3113=) c.8568A>C (p.Pro2856=) c.5940A>C (p.Pro1980=) c.4989A>C (p.Pro1663=) | |
15 | g.28141625G>A | CA391381714 | HERC2 | c.11822C>T (p.Pro3941Leu) c.3533C>T (p.Pro1178Leu) c.11708C>T (p.Pro3903Leu) c.11807C>T (p.Pro3936Leu) c.11564C>T (p.Pro3855Leu) c.11339C>T (p.Pro3780Leu) c.9338C>T (p.Pro3113Leu) c.8567C>T (p.Pro2856Leu) c.5939C>T (p.Pro1980Leu) c.4988C>T (p.Pro1663Leu) | gnomAD v4 |
15 | g.28141625G>C | CA391381716 | HERC2 | c.11822C>G (p.Pro3941Arg) c.3533C>G (p.Pro1178Arg) c.11708C>G (p.Pro3903Arg) c.11807C>G (p.Pro3936Arg) c.11564C>G (p.Pro3855Arg) c.11339C>G (p.Pro3780Arg) c.9338C>G (p.Pro3113Arg) c.8567C>G (p.Pro2856Arg) c.5939C>G (p.Pro1980Arg) c.4988C>G (p.Pro1663Arg) | |
15 | g.28141625G>T | CA391381717 | HERC2 | c.11822C>A (p.Pro3941Gln) c.3533C>A (p.Pro1178Gln) c.11708C>A (p.Pro3903Gln) c.11807C>A (p.Pro3936Gln) c.11564C>A (p.Pro3855Gln) c.11339C>A (p.Pro3780Gln) c.9338C>A (p.Pro3113Gln) c.8567C>A (p.Pro2856Gln) c.5939C>A (p.Pro1980Gln) c.4988C>A (p.Pro1663Gln) |