Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.10141849_10149966delCA2581463473VHLc.2_*320del
c.2_*1del
c.2_*197del
3g.10142071_10149891delCA1139532528VHLc.224_*245del
c.224_704del
c.224_679del
c.224_568del
c.224_445del
c.224_*122del
3g.10143181_10152298delCA2499216371VHLc.340+994_*2333del
c.*17+160_*2529del
ClinVar
3g.10145108_10153342delCA2499216377VHLc.341-1406_*3377del
c.*17+2087_*3573del
c.340+2921_*3377del
ClinVar
3g.10145132_10153366delCA2499216378VHLc.341-1382_*3401del
c.*17+2111_*3597del
c.340+2945_*3401del
ClinVar
3g.10145585_10153156delCA2499216380VHLc.341-929_*3191del
c.*17+2564_*3387del
c.340+3398_*3191del
ClinVar
3g.10146465_10152780delCA2499216382VHLc.341-49_*2815del
c.*18-3322_*3011del
c.341-3322_*2815del
ClinVar
3g.10146480_10149909delCA2581463488VHLc.*18-34_*263del
c.600-3307_722del
c.341-34_697del
c.341-34_586del
c.341-3307_463del
n.477-34_722del
c.*18-3307_*140del
3g.10146514_10149967delCA1139532108VHLc.*18_*321del
c.600-3273_780del
c.341_*2del
c.341-3273_*2del
n.477_780del
c.*18-3273_*198del
3g.10147075_10150956delCA2499216384VHLc.*140+439_*1310del
c.600-2712_1769del
c.463+439_*991del
c.341-2712_*991del
c.*18-2712_*1187del
ClinVar
3g.10147644_10152768delCA2499216385VHLc.463+1008_*2803del
c.*18-2143_*2999del
c.341-2143_*2803del
ClinVar
3g.10148440_10158273delCA2499216386 ClinVar
3g.10148566_10158401delCA2499216387 ClinVar
3g.10148561_10152736delCA2499216388VHLc.464-143_*2771del
c.464-1226_*2771del
c.*18-1226_*2967del
c.341-1226_*2771del
ClinVar
3g.10148615_10158450delCA2499216389 ClinVar
3g.10149787_10149965delCA2580612129VHLc.*141_*319del (n.*141_*319del)
c.600_778del (n.600_778del)
c.575_753del (p.Val192GlufsTer?)
c.464_642del (p.Val155GlufsTer?)
c.341_519del (p.Val114GlufsTer?)
n.600_778del
c.*18_*196del (n.*18_*196del)
3g.10149827_10149842delCA2499216391VHLc.*181_*196del (n.*181_*196del)
c.640_655del (n.640_655del)
c.615_630del (p.Ser205ArgfsTer29)
c.504_519del (p.Ser168ArgfsTer29)
c.381_396del (p.Ser127ArgfsTer29)
n.640_655del
c.*58_*73del (n.*58_*73del)
ClinVar dbSNP
3g.10149830_10149839delCA645525074VHLc.*184_*193del (n.*184_*193del)
c.643_652del (n.643_652del)
c.618_627del (p.Val207ArgfsTer29)
c.507_516del (p.Val170ArgfsTer29)
c.384_393del (p.Val129ArgfsTer29)
n.643_652del
c.*61_*70del (n.*61_*70del)
COSMIC COSMIC
3g.10149826_10149836delCA2573131812VHLc.*180_*190del (n.*180_*190del)
c.639_649del (n.639_649del)
c.614_624del (p.Ser205ThrfsTer2)
c.503_513del (p.Ser168ThrfsTer2)
c.380_390del (p.Ser127ThrfsTer2)
n.639_649del
c.*57_*67del (n.*57_*67del)
3g.10149835_10149839delCA645525083VHLc.*189_*193del (n.*189_*193del)
c.648_652del (n.648_652del)
c.623_627del (p.Lys208ArgfsTer?)
c.512_516del (p.Lys171ArgfsTer?)
c.389_393del (p.Lys130ArgfsTer?)
n.648_652del
c.*66_*70del (n.*66_*70del)
COSMIC
3g.10149837_10149842delCA645525082VHLc.*191_*196del (n.*191_*196del)
c.650_655del (n.650_655del)
c.625_630del (p.Pro209_Glu210del)
c.514_519del (p.Pro172_Glu173del)
c.391_396del (p.Pro131_Glu132del)
n.650_655del
c.*68_*73del (n.*68_*73del)
COSMIC
3g.10149837_10149850delCA645525084VHLc.*191_*204del (n.*191_*204del)
c.650_663del (n.650_663del)
c.625_638del (p.Pro209GlufsTer?)
c.514_527del (p.Pro172GlufsTer?)
c.391_404del (p.Pro131GlufsTer?)
n.650_663del
c.*68_*81del (n.*68_*81del)
COSMIC
3g.10149836delCA645525085VHLc.*190del (n.*190del)
c.649del (n.649del)
c.624del (p.Lys208AsnfsTer?)
c.513del (p.Lys171AsnfsTer?)
c.390del (p.Lys130AsnfsTer?)
n.649del
c.*67del (n.*67del)
COSMIC
3g.10149836G>ACA432423359VHLc.*190G>A (n.*190G>A)
c.649G>A (n.649G>A)
c.624G>A (p.Lys208=)
c.513G>A (p.Lys171=)
c.390G>A (p.Lys130=)
n.649G>A
c.*67G>A (n.*67G>A)
dbSNP
3g.10149836G>CCA351756203VHLc.*190G>C (n.*190G>C)
c.649G>C (n.649G>C)
c.624G>C (p.Lys208Asn)
c.513G>C (p.Lys171Asn)
c.390G>C (p.Lys130Asn)
n.649G>C
c.*67G>C (n.*67G>C)
ClinVar dbSNP gnomAD v4 COSMIC
3g.10149836G=CA1345062414VHLc.*190G= (n.*190G=)
c.649G= (n.649G=)
c.624G= (p.Lys208=)
c.513G= (p.Lys171=)
c.390G= (p.Lys130=)
n.649G=
c.*67G= (n.*67G=)
3g.10149836G>TCA351756204VHLc.*190G>T (n.*190G>T)
c.649G>T (n.649G>T)
c.624G>T (p.Lys208Asn)
c.513G>T (p.Lys171Asn)
c.390G>T (p.Lys130Asn)
n.649G>T
c.*67G>T (n.*67G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149836_10149838delCA2573105934VHLc.*190_*192del (n.*190_*192del)
c.649_651del (n.649_651del)
c.624_626del (p.Lys208_Pro209delinsAsn)
c.513_515del (p.Lys171_Pro172delinsAsn)
c.390_392del (p.Lys130_Pro131delinsAsn)
n.649_651del
c.*67_*69del (n.*67_*69del)
3g.10149837_10149840delCA645525086VHLc.*191_*194del (n.*191_*194del)
c.650_653del (n.650_653del)
c.625_628del (p.Pro209ArgfsTer29)
c.514_517del (p.Pro172ArgfsTer29)
c.391_394del (p.Pro131ArgfsTer29)
n.650_653del
c.*68_*71del (n.*68_*71del)
COSMIC
3g.10149837C>ACA351756205VHLc.*191C>A (n.*191C>A)
c.650C>A (n.650C>A)
c.625C>A (p.Pro209Thr)
c.514C>A (p.Pro172Thr)
c.391C>A (p.Pro131Thr)
n.650C>A
c.*68C>A (n.*68C>A)
dbSNP gnomAD v2
3g.10149837C=CA1345062418VHLc.*191C= (n.*191C=)
c.650C= (n.650C=)
c.625C= (p.Pro209=)
c.514C= (p.Pro172=)
c.391C= (p.Pro131=)
n.650C=
c.*68C= (n.*68C=)
3g.10149837C>GCA351756206VHLc.*191C>G (n.*191C>G)
c.650C>G (n.650C>G)
c.625C>G (p.Pro209Ala)
c.514C>G (p.Pro172Ala)
c.391C>G (p.Pro131Ala)
n.650C>G
c.*68C>G (n.*68C>G)
dbSNP
3g.10149837C>TCA351756207VHLc.*191C>T (n.*191C>T)
c.650C>T (n.650C>T)
c.625C>T (p.Pro209Ser)
c.514C>T (p.Pro172Ser)
c.391C>T (p.Pro131Ser)
n.650C>T
c.*68C>T (n.*68C>T)
ClinVar dbSNP COSMIC
3g.10149838delCA432423368VHLc.*192del (n.*192del)
c.651del (n.651del)
c.626del (p.Pro209LeufsTer30)
c.515del (p.Pro172LeufsTer30)
c.392del (p.Pro131LeufsTer30)
n.651del
c.*69del (n.*69del)
COSMIC COSMIC
3g.10149838C>ACA351756208VHLc.*192C>A (n.*192C>A)
c.651C>A (n.651C>A)
c.626C>A (p.Pro209His)
c.515C>A (p.Pro172His)
c.392C>A (p.Pro131His)
n.651C>A
c.*69C>A (n.*69C>A)
dbSNP
3g.10149838C=CA1345062423VHLc.*192C= (n.*192C=)
c.651C= (n.651C=)
c.626C= (p.Pro209=)
c.515C= (p.Pro172=)
c.392C= (p.Pro131=)
n.651C=
c.*69C= (n.*69C=)
3g.10149838C>GCA351756209VHLc.*192C>G (n.*192C>G)
c.651C>G (n.651C>G)
c.626C>G (p.Pro209Arg)
c.515C>G (p.Pro172Arg)
c.392C>G (p.Pro131Arg)
n.651C>G
c.*69C>G (n.*69C>G)
ClinVar dbSNP
3g.10149838C>TCA351756210VHLc.*192C>T (n.*192C>T)
c.651C>T (n.651C>T)
c.626C>T (p.Pro209Leu)
c.515C>T (p.Pro172Leu)
c.392C>T (p.Pro131Leu)
n.651C>T
c.*69C>T (n.*69C>T)
ClinVar dbSNP
3g.10149839_10149848delCA645525087VHLc.*193_*202del (n.*193_*202del)
c.652_661del (n.652_661del)
c.627_636del (p.Glu210GlyfsTer26)
c.516_525del (p.Glu173GlyfsTer26)
c.393_402del (p.Glu132GlyfsTer26)
n.652_661del
c.*70_*79del (n.*70_*79del)
COSMIC
3g.10149838_10149839insACA645525090VHLc.*192_*193insA (n.*192_*193insA)
c.651_652insA (n.651_652insA)
c.626_627insA (p.Glu210Ter)
c.515_516insA (p.Glu173Ter)
c.392_393insA (p.Glu132Ter)
n.651_652insA
c.*69_*70insA (n.*69_*70insA)
COSMIC
3g.10149839delCA645525089VHLc.*193del (n.*193del)
c.652del (n.652del)
c.627del (p.Glu210ArgfsTer29)
c.516del (p.Glu173ArgfsTer29)
c.393del (p.Glu132ArgfsTer29)
n.652del
c.*70del (n.*70del)
COSMIC
3g.10149839T>ACA432423377VHLc.*193T>A (n.*193T>A)
c.652T>A (n.652T>A)
c.627T>A (p.Pro209=)
c.516T>A (p.Pro172=)
c.393T>A (p.Pro131=)
n.652T>A
c.*70T>A (n.*70T>A)
dbSNP
3g.10149839T>CCA432423376VHLc.*193T>C (n.*193T>C)
c.652T>C (n.652T>C)
c.627T>C (p.Pro209=)
c.516T>C (p.Pro172=)
c.393T>C (p.Pro131=)
n.652T>C
c.*70T>C (n.*70T>C)
dbSNP
3g.10149839T>GCA432423375VHLc.*193T>G (n.*193T>G)
c.652T>G (n.652T>G)
c.627T>G (p.Pro209=)
c.516T>G (p.Pro172=)
c.393T>G (p.Pro131=)
n.652T>G
c.*70T>G (n.*70T>G)
ClinVar dbSNP gnomAD v4
3g.10149839T=CA1345062428VHLc.*193T= (n.*193T=)
c.652T= (n.652T=)
c.627T= (p.Pro209=)
c.516T= (p.Pro172=)
c.393T= (p.Pro131=)
n.652T=
c.*70T= (n.*70T=)
3g.10149839_10149840dupCA2499306821VHLc.*193_*194dup (n.*193_*194dup)
c.652_653dup (n.652_653dup)
c.627_628dup (p.Glu210ValfsTer30)
c.516_517dup (p.Glu173ValfsTer30)
c.393_394dup (p.Glu132ValfsTer30)
n.652_653dup
c.*70_*71dup (n.*70_*71dup)
3g.10149840_10149845delCA645525088VHLc.*194_*199del (n.*194_*199del)
c.653_658del (n.653_658del)
c.628_633del (p.Glu210_Asn211del)
c.517_522del (p.Glu173_Asn174del)
c.394_399del (p.Glu132_Asn133del)
n.653_658del
c.*71_*76del (n.*71_*76del)
COSMIC
3g.10149840G>ACA351756211VHLc.*194G>A (n.*194G>A)
c.653G>A (n.653G>A)
c.628G>A (p.Glu210Lys)
c.517G>A (p.Glu173Lys)
c.394G>A (p.Glu132Lys)
n.653G>A
c.*71G>A (n.*71G>A)
3g.10149840G>CCA351756212VHLc.*194G>C (n.*194G>C)
c.653G>C (n.653G>C)
c.628G>C (p.Glu210Gln)
c.517G>C (p.Glu173Gln)
c.394G>C (p.Glu132Gln)
n.653G>C
c.*71G>C (n.*71G>C)
ClinVar dbSNP COSMIC
3g.10149840G=CA1345062433VHLc.*194G= (n.*194G=)
c.653G= (n.653G=)
c.628G= (p.Glu210=)
c.517G= (p.Glu173=)
c.394G= (p.Glu132=)
n.653G=
c.*71G= (n.*71G=)
3g.10149840G>TCA351756213VHLc.*194G>T (n.*194G>T)
c.653G>T (n.653G>T)
c.628G>T (p.Glu210Ter)
c.517G>T (p.Glu173Ter)
c.394G>T (p.Glu132Ter)
n.653G>T
c.*71G>T (n.*71G>T)
ClinVar dbSNP COSMIC
3g.10149840dupCA645525092VHLc.*194dup (n.*194dup)
c.653dup (n.653dup)
c.628dup (p.Glu210GlyfsTer?)
c.517dup (p.Glu173GlyfsTer?)
c.394dup (p.Glu132GlyfsTer?)
n.653dup
c.*71dup (n.*71dup)
COSMIC
3g.10149842_10149843delCA645525091VHLc.*196_*197del (n.*196_*197del)
c.655_656del (n.655_656del)
c.630_631del (p.Asn211LeufsTer?)
c.519_520del (p.Asn174LeufsTer?)
c.396_397del (p.Asn133LeufsTer?)
n.655_656del
c.*73_*74del (n.*73_*74del)
COSMIC
3g.10149844_10149854delCA2739292378VHLc.*198_*208del (n.*198_*208del)
c.657_667del (n.657_667del)
c.632_642del (p.Asn211ThrfsTer?)
c.521_531del (p.Asn174ThrfsTer?)
c.398_408del (p.Asn133ThrfsTer?)
n.657_667del
c.*75_*85del (n.*75_*85del)
3g.10149841A>CCA351756215VHLc.*195A>C (n.*195A>C)
c.654A>C (n.654A>C)
c.629A>C (p.Glu210Ala)
c.518A>C (p.Glu173Ala)
c.395A>C (p.Glu132Ala)
n.654A>C
c.*72A>C (n.*72A>C)
dbSNP
3g.10149841A>GCA351756216VHLc.*195A>G (n.*195A>G)
c.654A>G (n.654A>G)
c.629A>G (p.Glu210Gly)
c.518A>G (p.Glu173Gly)
c.395A>G (p.Glu132Gly)
n.654A>G
c.*72A>G (n.*72A>G)
dbSNP
3g.10149841A>TCA351756214VHLc.*195A>T (n.*195A>T)
c.654A>T (n.654A>T)
c.629A>T (p.Glu210Val)
c.518A>T (p.Glu173Val)
c.395A>T (p.Glu132Val)
n.654A>T
c.*72A>T (n.*72A>T)
dbSNP
3g.10149842G>ACA432423397VHLc.*196G>A (n.*196G>A)
c.655G>A (n.655G>A)
c.630G>A (p.Glu210=)
c.519G>A (p.Glu173=)
c.396G>A (p.Glu132=)
n.655G>A
c.*73G>A (n.*73G>A)
ClinVar dbSNP
3g.10149842G>CCA351756217VHLc.*196G>C (n.*196G>C)
c.655G>C (n.655G>C)
c.630G>C (p.Glu210Asp)
c.519G>C (p.Glu173Asp)
c.396G>C (p.Glu132Asp)
n.655G>C
c.*73G>C (n.*73G>C)
ClinVar dbSNP
3g.10149842G=CA1345062437VHLc.*196G= (n.*196G=)
c.655G= (n.655G=)
c.630G= (p.Glu210=)
c.519G= (p.Glu173=)
c.396G= (p.Glu132=)
n.655G=
c.*73G= (n.*73G=)
3g.10149842G>TCA351756218VHLc.*196G>T (n.*196G>T)
c.655G>T (n.655G>T)
c.630G>T (p.Glu210Asp)
c.519G>T (p.Glu173Asp)
c.396G>T (p.Glu132Asp)
n.655G>T
c.*73G>T (n.*73G>T)
dbSNP
3g.10149842dupCA432423394VHLc.*196dup (n.*196dup)
c.655dup (n.655dup)
c.630dup (p.Asn211GlufsTer?)
c.519dup (p.Asn174GlufsTer?)
c.396dup (p.Asn133GlufsTer?)
n.655dup
c.*73dup (n.*73dup)
3g.10149843A=CA1345062441VHLc.*197A= (n.*197A=)
c.656A= (n.656A=)
c.631A= (p.Asn211=)
c.520A= (p.Asn174=)
c.397A= (p.Asn133=)
n.656A=
c.*74A= (n.*74A=)
3g.10149843A>CCA351756219VHLc.*197A>C (n.*197A>C)
c.656A>C (n.656A>C)
c.631A>C (p.Asn211His)
c.520A>C (p.Asn174His)
c.397A>C (p.Asn133His)
n.656A>C
c.*74A>C (n.*74A>C)
3g.10149843A>GCA351756220VHLc.*197A>G (n.*197A>G)
c.656A>G (n.656A>G)
c.631A>G (p.Asn211Asp)
c.520A>G (p.Asn174Asp)
c.397A>G (p.Asn133Asp)
n.656A>G
c.*74A>G (n.*74A>G)
COSMIC
3g.10149843A>TCA16611095VHLc.*197A>T (n.*197A>T)
c.656A>T (n.656A>T)
c.631A>T (p.Asn211Tyr)
c.520A>T (p.Asn174Tyr)
c.397A>T (p.Asn133Tyr)
n.656A>T
c.*74A>T (n.*74A>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149844dupCA645525093VHLc.*198dup (n.*198dup)
c.657dup (n.657dup)
c.632dup (p.Asn211LysfsTer?)
c.521dup (p.Asn174LysfsTer?)
c.398dup (p.Asn133LysfsTer?)
n.657dup
c.*75dup (n.*75dup)
COSMIC
3g.10149843_10149844dupCA2573051315VHLc.*197_*198dup (n.*197_*198dup)
c.656_657dup (n.656_657dup)
c.631_632dup (p.Asn211LysfsTer29)
c.520_521dup (p.Asn174LysfsTer29)
c.397_398dup (p.Asn133LysfsTer29)
n.656_657dup
c.*74_*75dup (n.*74_*75dup)
3g.10149844delCA432423410VHLc.*198del (n.*198del)
c.657del (n.657del)
c.632del (p.Asn211IlefsTer28)
c.521del (p.Asn174IlefsTer28)
c.398del (p.Asn133IlefsTer28)
n.657del
c.*75del (n.*75del)
COSMIC
3g.10149844A=CA1345062447VHLc.*198A= (n.*198A=)
c.657A= (n.657A=)
c.632A= (p.Asn211=)
c.521A= (p.Asn174=)
c.398A= (p.Asn133=)
n.657A=
c.*75A= (n.*75A=)
3g.10149844A>CCA351756223VHLc.*198A>C (n.*198A>C)
c.657A>C (n.657A>C)
c.632A>C (p.Asn211Thr)
c.521A>C (p.Asn174Thr)
c.398A>C (p.Asn133Thr)
n.657A>C
c.*75A>C (n.*75A>C)
3g.10149844A>GCA351756221VHLc.*198A>G (n.*198A>G)
c.657A>G (n.657A>G)
c.632A>G (p.Asn211Ser)
c.521A>G (p.Asn174Ser)
c.398A>G (p.Asn133Ser)
n.657A>G
c.*75A>G (n.*75A>G)
ClinVar dbSNP
3g.10149844A>TCA351756222VHLc.*198A>T (n.*198A>T)
c.657A>T (n.657A>T)
c.632A>T (p.Asn211Ile)
c.521A>T (p.Asn174Ile)
c.398A>T (p.Asn133Ile)
n.657A>T
c.*75A>T (n.*75A>T)
dbSNP
3g.10149844_10149845dupCA645525094VHLc.*198_*199dup (n.*198_*199dup)
c.657_658dup (n.657_658dup)
c.632_633dup (p.Tyr212IlefsTer28)
c.521_522dup (p.Tyr175IlefsTer28)
c.398_399dup (p.Tyr134IlefsTer28)
n.657_658dup
c.*75_*76dup (n.*75_*76dup)
COSMIC
3g.10149845T>ACA351756224VHLc.*199T>A (n.*199T>A)
c.658T>A (n.658T>A)
c.633T>A (p.Asn211Lys)
c.522T>A (p.Asn174Lys)
c.399T>A (p.Asn133Lys)
n.658T>A
c.*76T>A (n.*76T>A)
dbSNP
3g.10149845T>CCA16604772VHLc.*199T>C (n.*199T>C)
c.658T>C (n.658T>C)
c.633T>C (p.Asn211=)
c.522T>C (p.Asn174=)
c.399T>C (p.Asn133=)
n.658T>C
c.*76T>C (n.*76T>C)
ClinVar dbSNP gnomAD v4
3g.10149845T>GCA351756225VHLc.*199T>G (n.*199T>G)
c.658T>G (n.658T>G)
c.633T>G (p.Asn211Lys)
c.522T>G (p.Asn174Lys)
c.399T>G (p.Asn133Lys)
n.658T>G
c.*76T>G (n.*76T>G)
dbSNP gnomAD v4
3g.10149845T=CA1345062452VHLc.*199T= (n.*199T=)
c.658T= (n.658T=)
c.633T= (p.Asn211=)
c.522T= (p.Asn174=)
c.399T= (p.Asn133=)
n.658T=
c.*76T= (n.*76T=)
3g.10149846dupCA432423422VHLc.*200dup (n.*200dup)
c.659dup (n.659dup)
c.634dup (p.Tyr212LeufsTer?)
c.523dup (p.Tyr175LeufsTer?)
c.400dup (p.Tyr134LeufsTer?)
n.659dup
c.*77dup (n.*77dup)
COSMIC COSMIC
3g.10149845_10149846dupCA645525095VHLc.*199_*200dup (n.*199_*200dup)
c.658_659dup (n.658_659dup)
c.633_634dup (p.Tyr212PhefsTer28)
c.522_523dup (p.Tyr175PhefsTer28)
c.399_400dup (p.Tyr134PhefsTer28)
n.658_659dup
c.*76_*77dup (n.*76_*77dup)
COSMIC
3g.10149846delCA432423423VHLc.*200del (n.*200del)
c.659del (n.659del)
c.634del (p.Tyr212ThrfsTer27)
c.523del (p.Tyr175ThrfsTer27)
c.400del (p.Tyr134ThrfsTer27)
n.659del
c.*77del (n.*77del)
COSMIC
3g.10149845_10149846insACA432423426VHLc.*199_*200insA (n.*199_*200insA)
c.658_659insA (n.658_659insA)
c.633_634insA (p.Tyr212IlefsTer?)
c.522_523insA (p.Tyr175IlefsTer?)
c.399_400insA (p.Tyr134IlefsTer?)
n.658_659insA
c.*76_*77insA (n.*76_*77insA)
3g.10149846T>ACA351756226VHLc.*200T>A (n.*200T>A)
c.659T>A (n.659T>A)
c.634T>A (p.Tyr212Asn)
c.523T>A (p.Tyr175Asn)
c.400T>A (p.Tyr134Asn)
n.659T>A
c.*77T>A (n.*77T>A)
dbSNP
3g.10149846T>CCA351756227VHLc.*200T>C (n.*200T>C)
c.659T>C (n.659T>C)
c.634T>C (p.Tyr212His)
c.523T>C (p.Tyr175His)
c.400T>C (p.Tyr134His)
n.659T>C
c.*77T>C (n.*77T>C)
3g.10149846T>GCA351756228VHLc.*200T>G (n.*200T>G)
c.659T>G (n.659T>G)
c.634T>G (p.Tyr212Asp)
c.523T>G (p.Tyr175Asp)
c.400T>G (p.Tyr134Asp)
n.659T>G
c.*77T>G (n.*77T>G)
COSMIC
3g.10149847delCA432423433VHLc.*201del (n.*201del)
c.660del (n.660del)
c.635del (p.Tyr212SerfsTer27)
c.524del (p.Tyr175SerfsTer27)
c.401del (p.Tyr134SerfsTer27)
n.660del
c.*78del (n.*78del)
COSMIC
3g.10149847A=CA1345062460VHLc.*201A= (n.*201A=)
c.660A= (n.660A=)
c.635A= (p.Tyr212=)
c.524A= (p.Tyr175=)
c.401A= (p.Tyr134=)
n.660A=
c.*78A= (n.*78A=)
3g.10149847A>CCA351756229VHLc.*201A>C (n.*201A>C)
c.660A>C (n.660A>C)
c.635A>C (p.Tyr212Ser)
c.524A>C (p.Tyr175Ser)
c.401A>C (p.Tyr134Ser)
n.660A>C
c.*78A>C (n.*78A>C)
dbSNP
3g.10149847A>GCA020462VHLc.*201A>G (n.*201A>G)
c.660A>G (n.660A>G)
c.635A>G (p.Tyr212Cys)
c.524A>G (p.Tyr175Cys)
c.401A>G (p.Tyr134Cys)
n.660A>G
c.*78A>G (n.*78A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10149847A>TCA351756230VHLc.*201A>T (n.*201A>T)
c.660A>T (n.660A>T)
c.635A>T (p.Tyr212Phe)
c.524A>T (p.Tyr175Phe)
c.401A>T (p.Tyr134Phe)
n.660A>T
c.*78A>T (n.*78A>T)
ClinVar dbSNP
3g.10149847dupCA2580068484VHLc.*201dup (n.*201dup)
c.660dup (n.660dup)
c.635dup (p.Tyr212Ter)
c.524dup (p.Tyr175Ter)
c.401dup (p.Tyr134Ter)
n.660dup
c.*78dup (n.*78dup)
ClinVar
3g.10149847_10149850delCA2580068483VHLc.*201_*204del (n.*201_*204del)
c.660_663del (n.660_663del)
c.635_638del (p.Tyr212Ter)
c.524_527del (p.Tyr175Ter)
c.401_404del (p.Tyr134Ter)
n.660_663del
c.*78_*81del (n.*78_*81del)
ClinVar
3g.10149848_10149852delCA645529518VHLc.*202_*206del (n.*202_*206del)
c.661_665del (n.661_665del)
c.636_640del (p.Tyr212Ter)
c.525_529del (p.Tyr175Ter)
c.402_406del (p.Tyr134Ter)
n.661_665del
c.*79_*83del (n.*79_*83del)
COSMIC
3g.10149849_10149855delCA645529519VHLc.*203_*209del (n.*203_*209del)
c.662_668del (n.662_668del)
c.637_643del (p.Arg213TrpfsTer24)
c.526_532del (p.Arg176TrpfsTer24)
c.403_409del (p.Arg135TrpfsTer24)
n.662_668del
c.*80_*86del (n.*80_*86del)
COSMIC
3g.10149847_10149848insTCA432423440VHLc.*201_*202insT (n.*201_*202insT)
c.660_661insT (n.660_661insT)
c.635_636insT (p.Arg213GlnfsTer?)
c.524_525insT (p.Arg176GlnfsTer?)
c.401_402insT (p.Arg135GlnfsTer?)
n.660_661insT
c.*78_*79insT (n.*78_*79insT)
3g.10149848delCA913185019VHLc.*202del (n.*202del)
c.661del (n.661del)
c.636del (p.Tyr212Ter)
c.525del (p.Tyr175Ter)
c.402del (p.Tyr134Ter)
n.661del
c.*79del (n.*79del)
3g.10149848C>ACA351756231VHLc.*202C>A (n.*202C>A)
c.661C>A (n.661C>A)
c.636C>A (p.Tyr212Ter)
c.525C>A (p.Tyr175Ter)
c.402C>A (p.Tyr134Ter)
n.661C>A
c.*79C>A (n.*79C>A)
ClinVar dbSNP COSMIC
3g.10149848C=CA1345062464VHLc.*202C= (n.*202C=)
c.661C= (n.661C=)
c.636C= (p.Tyr212=)
c.525C= (p.Tyr175=)
c.402C= (p.Tyr134=)
n.661C=
c.*79C= (n.*79C=)
3g.10149848C>GCA020466VHLc.*202C>G (n.*202C>G)
c.661C>G (n.661C>G)
c.636C>G (p.Tyr212Ter)
c.525C>G (p.Tyr175Ter)
c.402C>G (p.Tyr134Ter)
n.661C>G
c.*79C>G (n.*79C>G)
ClinVar dbSNP COSMIC
3g.10149848C>TCA432423437VHLc.*202C>T (n.*202C>T)
c.661C>T (n.661C>T)
c.636C>T (p.Tyr212=)
c.525C>T (p.Tyr175=)
c.402C>T (p.Tyr134=)
n.661C>T
c.*79C>T (n.*79C>T)
ClinVar dbSNP gnomAD v4
3g.10149848_10149849delinsCACA1345062469VHLc.*202_*203delinsCA (n.*202_*203delinsCA)
c.661_662delinsCA (n.661_662delinsCA)
c.636_637delinsCA (p.Tyr212=)
c.525_526delinsCA (p.Tyr175=)
c.402_403delinsCA (p.Tyr134=)
n.661_662delinsCA
c.*79_*80delinsCA (n.*79_*80delinsCA)
3g.10149848_10149855delCA645529521VHLc.*202_*209del (n.*202_*209del)
c.661_668del (n.661_668del)
c.636_643del (p.Arg213GlyfsTer?)
c.525_532del (p.Arg176GlyfsTer?)
c.402_409del (p.Arg135GlyfsTer?)
n.661_668del
c.*79_*86del (n.*79_*86del)
COSMIC
3g.10149848_10149856delCA645529520VHLc.*202_*210del (n.*202_*210del)
c.661_669del (n.661_669del)
c.636_644del (p.Tyr212Ter)
c.525_533del (p.Tyr175Ter)
c.402_410del (p.Tyr134Ter)
n.661_669del
c.*79_*87del (n.*79_*87del)
COSMIC
3g.10149852_10149869dupCA2580068485VHLc.*206_*223dup (n.*206_*223dup)
c.665_682dup (n.665_682dup)
c.640_657dup (p.Arg219_Ser220insArgLeuAspIleValArg)
c.529_546dup (p.Arg182_Ser183insArgLeuAspIleValArg)
c.406_423dup (p.Arg141_Ser142insArgLeuAspIleValArg)
n.665_682dup
c.*83_*100dup (n.*83_*100dup)
ClinVar
3g.10149849delCA16602180VHLc.*203del (n.*203del)
c.662del (n.662del)
c.637del (p.Arg213GlyfsTer26)
c.526del (p.Arg176GlyfsTer26)
c.403del (p.Arg135GlyfsTer26)
n.662del
c.*80del (n.*80del)
ClinVar dbSNP
3g.10149849A=CA1345062476VHLc.*203A= (n.*203A=)
c.662A= (n.662A=)
c.637A= (p.Arg213=)
c.526A= (p.Arg176=)
c.403A= (p.Arg135=)
n.662A=
c.*80A= (n.*80A=)
3g.10149849A>CCA432423442VHLc.*203A>C (n.*203A>C)
c.662A>C (n.662A>C)
c.637A>C (p.Arg213=)
c.526A>C (p.Arg176=)
c.403A>C (p.Arg135=)
n.662A>C
c.*80A>C (n.*80A>C)
3g.10149849A>GCA351756232VHLc.*203A>G (n.*203A>G)
c.662A>G (n.662A>G)
c.637A>G (p.Arg213Gly)
c.526A>G (p.Arg176Gly)
c.403A>G (p.Arg135Gly)
n.662A>G
c.*80A>G (n.*80A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10149849A>TCA351756233VHLc.*203A>T (n.*203A>T)
c.662A>T (n.662A>T)
c.637A>T (p.Arg213Trp)
c.526A>T (p.Arg176Trp)
c.403A>T (p.Arg135Trp)
n.662A>T
c.*80A>T (n.*80A>T)
COSMIC
3g.10149849_10149856delinsAGGAGACTCA1345062480VHLc.*203_*210delinsAGGAGACT (n.*203_*210delinsAGGAGACT)
c.662_669delinsAGGAGACT (n.662_669delinsAGGAGACT)
c.637_644delinsAGGAGACT (p.Arg213=)
c.526_533delinsAGGAGACT (p.Arg176=)
c.403_410delinsAGGAGACT (p.Arg135=)
n.662_669delinsAGGAGACT
c.*80_*87delinsAGGAGACT (n.*80_*87delinsAGGAGACT)
3g.10149850G>ACA351756234VHLc.*204G>A (n.*204G>A)
c.663G>A (n.663G>A)
c.638G>A (p.Arg213Lys)
c.527G>A (p.Arg176Lys)
c.404G>A (p.Arg135Lys)
n.663G>A
c.*81G>A (n.*81G>A)
dbSNP gnomAD v4 COSMIC
3g.10149850G>CCA351756235VHLc.*204G>C (n.*204G>C)
c.663G>C (n.663G>C)
c.638G>C (p.Arg213Thr)
c.527G>C (p.Arg176Thr)
c.404G>C (p.Arg135Thr)
n.663G>C
c.*81G>C (n.*81G>C)
dbSNP
3g.10149850G>TCA351756236VHLc.*204G>T (n.*204G>T)
c.663G>T (n.663G>T)
c.638G>T (p.Arg213Met)
c.527G>T (p.Arg176Met)
c.404G>T (p.Arg135Met)
n.663G>T
c.*81G>T (n.*81G>T)
dbSNP
3g.10149851delCA432423454VHLc.*205del (n.*205del)
c.664del (n.664del)
c.639del (p.Arg214AspfsTer25)
c.528del (p.Arg177AspfsTer25)
c.405del (p.Arg136AspfsTer25)
n.664del
c.*82del (n.*82del)
COSMIC COSMIC
3g.10149853_10149859delCA915941845VHLc.*207_*213del (n.*207_*213del)
c.666_672del (n.666_672del)
c.641_647del (p.Arg214ThrfsTer23)
c.530_536del (p.Arg177ThrfsTer23)
c.407_413del (p.Arg136ThrfsTer23)
n.666_672del
c.*84_*90del (n.*84_*90del)
ClinVar dbSNP
3g.10149851G>ACA432423456VHLc.*205G>A (n.*205G>A)
c.664G>A (n.664G>A)
c.639G>A (p.Arg213=)
c.528G>A (p.Arg176=)
c.405G>A (p.Arg135=)
n.664G>A
c.*82G>A (n.*82G>A)
dbSNP
3g.10149851G>CCA351756237VHLc.*205G>C (n.*205G>C)
c.664G>C (n.664G>C)
c.639G>C (p.Arg213Ser)
c.528G>C (p.Arg176Ser)
c.405G>C (p.Arg135Ser)
n.664G>C
c.*82G>C (n.*82G>C)
dbSNP
3g.10149851G=CA1345062486VHLc.*205G= (n.*205G=)
c.664G= (n.664G=)
c.639G= (p.Arg213=)
c.528G= (p.Arg176=)
c.405G= (p.Arg135=)
n.664G=
c.*82G= (n.*82G=)
3g.10149851G>TCA041381VHLc.*205G>T (n.*205G>T)
c.664G>T (n.664G>T)
c.639G>T (p.Arg213Ser)
c.528G>T (p.Arg176Ser)
c.405G>T (p.Arg135Ser)
n.664G>T
c.*82G>T (n.*82G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149853_10149854delCA645529522VHLc.*207_*208del (n.*207_*208del)
c.666_667del (n.666_667del)
c.641_642del (p.Arg214ThrfsTer?)
c.530_531del (p.Arg177ThrfsTer?)
c.407_408del (p.Arg136ThrfsTer?)
n.666_667del
c.*84_*85del (n.*84_*85del)
COSMIC COSMIC
3g.10149852delCA432423464VHLc.*206del (n.*206del)
c.665del (n.665del)
c.640del (p.Arg214AspfsTer25)
c.529del (p.Arg177AspfsTer25)
c.406del (p.Arg136AspfsTer25)
n.665del
c.*83del (n.*83del)
COSMIC
3g.10149852A=CA1345062488VHLc.*206A= (n.*206A=)
c.665A= (n.665A=)
c.640A= (p.Arg214=)
c.529A= (p.Arg177=)
c.406A= (p.Arg136=)
n.665A=
c.*83A= (n.*83A=)
3g.10149852A>CCA432423462VHLc.*206A>C (n.*206A>C)
c.665A>C (n.665A>C)
c.640A>C (p.Arg214=)
c.529A>C (p.Arg177=)
c.406A>C (p.Arg136=)
n.665A>C
c.*83A>C (n.*83A>C)
gnomAD v4
3g.10149852A>GCA351756238VHLc.*206A>G (n.*206A>G)
c.665A>G (n.665A>G)
c.640A>G (p.Arg214Gly)
c.529A>G (p.Arg177Gly)
c.406A>G (p.Arg136Gly)
n.665A>G
c.*83A>G (n.*83A>G)
3g.10149852A>TCA351756239VHLc.*206A>T (n.*206A>T)
c.665A>T (n.665A>T)
c.640A>T (p.Arg214Ter)
c.529A>T (p.Arg177Ter)
c.406A>T (p.Arg136Ter)
n.665A>T
c.*83A>T (n.*83A>T)
ClinVar dbSNP COSMIC
3g.10149853G>ACA351756241VHLc.*207G>A (n.*207G>A)
c.666G>A (n.666G>A)
c.641G>A (p.Arg214Lys)
c.530G>A (p.Arg177Lys)
c.407G>A (p.Arg136Lys)
n.666G>A
c.*84G>A (n.*84G>A)
dbSNP
3g.10149853G>CCA351756242VHLc.*207G>C (n.*207G>C)
c.666G>C (n.666G>C)
c.641G>C (p.Arg214Thr)
c.530G>C (p.Arg177Thr)
c.407G>C (p.Arg136Thr)
n.666G>C
c.*84G>C (n.*84G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149853G=CA1345062494VHLc.*207G= (n.*207G=)
c.666G= (n.666G=)
c.641G= (p.Arg214=)
c.530G= (p.Arg177=)
c.407G= (p.Arg136=)
n.666G=
c.*84G= (n.*84G=)
3g.10149853G>TCA351756240VHLc.*207G>T (n.*207G>T)
c.666G>T (n.666G>T)
c.641G>T (p.Arg214Ile)
c.530G>T (p.Arg177Ile)
c.407G>T (p.Arg136Ile)
n.666G>T
c.*84G>T (n.*84G>T)
dbSNP gnomAD v4
3g.10149853dupCA432423467VHLc.*207dup (n.*207dup)
c.666dup (n.666dup)
c.641dup (p.Leu215ThrfsTer?)
c.530dup (p.Leu178ThrfsTer?)
c.407dup (p.Leu137ThrfsTer?)
n.666dup
c.*84dup (n.*84dup)
3g.10149853_10149858delinsCCA645529523VHLc.*207_*212delinsC (n.*207_*212delinsC)
c.666_671delinsC (n.666_671delinsC)
c.641_646delinsC (p.Arg214ThrfsTer?)
c.530_535delinsC (p.Arg177ThrfsTer?)
c.407_412delinsC (p.Arg136ThrfsTer?)
n.666_671delinsC
c.*84_*89delinsC (n.*84_*89delinsC)
COSMIC
3g.10149853_10149865delinsGACTGGACATCGTCA1345062496VHLc.*207_*219delinsGACTGGACATCGT (n.*207_*219delinsGACTGGACATCGT)
c.666_678delinsGACTGGACATCGT (n.666_678delinsGACTGGACATCGT)
c.641_653delinsGACTGGACATCGT (p.Arg214=)
c.530_542delinsGACTGGACATCGT (p.Arg177=)
c.407_419delinsGACTGGACATCGT (p.Arg136=)
n.666_678delinsGACTGGACATCGT
c.*84_*96delinsGACTGGACATCGT (n.*84_*96delinsGACTGGACATCGT)
3g.10149854A=CA1345062501VHLc.*208A= (n.*208A=)
c.667A= (n.667A=)
c.642A= (p.Arg214=)
c.531A= (p.Arg177=)
c.408A= (p.Arg136=)
n.667A=
c.*85A= (n.*85A=)
3g.10149854A>CCA351756243VHLc.*208A>C (n.*208A>C)
c.667A>C (n.667A>C)
c.642A>C (p.Arg214Ser)
c.531A>C (p.Arg177Ser)
c.408A>C (p.Arg136Ser)
n.667A>C
c.*85A>C (n.*85A>C)
3g.10149854A>GCA041395VHLc.*208A>G (n.*208A>G)
c.667A>G (n.667A>G)
c.642A>G (p.Arg214=)
c.531A>G (p.Arg177=)
c.408A>G (p.Arg136=)
n.667A>G
c.*85A>G (n.*85A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149854A>TCA041420VHLc.*208A>T (n.*208A>T)
c.667A>T (n.667A>T)
c.642A>T (p.Arg214Ser)
c.531A>T (p.Arg177Ser)
c.408A>T (p.Arg136Ser)
n.667A>T
c.*85A>T (n.*85A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149857_10149858insAGAGTAAAGCCTGAACTGCA2573130363VHLc.*211_*212insAGAGTAAAGCCTGAACTG (n.*211_*212insAGAGTAAAGCCTGAACTG)
c.670_671insAGAGTAAAGCCTGAACTG (n.670_671insAGAGTAAAGCCTGAACTG)
c.645_646insAGAGTAAAGCCTGAACTG (p.Leu215_Asp216insArgValLysProGluLeu)
c.534_535insAGAGTAAAGCCTGAACTG (p.Leu178_Asp179insArgValLysProGluLeu)
c.411_412insAGAGTAAAGCCTGAACTG (p.Leu137_Asp138insArgValLysProGluLeu)
n.670_671insAGAGTAAAGCCTGAACTG
c.*88_*89insAGAGTAAAGCCTGAACTG (n.*88_*89insAGAGTAAAGCCTGAACTG)
3g.10149854_10149865delinsTCCA658822549VHLc.*208_*219delinsTC (n.*208_*219delinsTC)
c.667_678delinsTC (n.667_678delinsTC)
c.642_653delinsTC (p.Arg214SerfsTer22)
c.531_542delinsTC (p.Arg177SerfsTer22)
c.408_419delinsTC (p.Arg136SerfsTer22)
n.667_678delinsTC
c.*85_*96delinsTC (n.*85_*96delinsTC)
ClinVar dbSNP
3g.10149854_10149867delCA2573105861VHLc.*208_*221del (n.*208_*221del)
c.667_680del (n.667_680del)
c.642_655del (p.Leu215ValfsTer?)
c.531_544del (p.Leu178ValfsTer?)
c.408_421del (p.Leu137ValfsTer?)
n.667_680del
c.*85_*98del (n.*85_*98del)
3g.10149855delCA432423480VHLc.*209del (n.*209del)
c.668del (n.668del)
c.643del (p.Leu215TrpfsTer24)
c.532del (p.Leu178TrpfsTer24)
c.409del (p.Leu137TrpfsTer24)
n.668del
c.*86del (n.*86del)
COSMIC
3g.10149855C>ACA351756244VHLc.*209C>A (n.*209C>A)
c.668C>A (n.668C>A)
c.643C>A (p.Leu215Met)
c.532C>A (p.Leu178Met)
c.409C>A (p.Leu137Met)
n.668C>A
c.*86C>A (n.*86C>A)
dbSNP
3g.10149855C=CA1345062509VHLc.*209C= (n.*209C=)
c.668C= (n.668C=)
c.643C= (p.Leu215=)
c.532C= (p.Leu178=)
c.409C= (p.Leu137=)
n.668C=
c.*86C= (n.*86C=)
3g.10149855C>GCA041435VHLc.*209C>G (n.*209C>G)
c.668C>G (n.668C>G)
c.643C>G (p.Leu215Val)
c.532C>G (p.Leu178Val)
c.409C>G (p.Leu137Val)
n.668C>G
c.*86C>G (n.*86C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149855C>TCA432423478VHLc.*209C>T (n.*209C>T)
c.668C>T (n.668C>T)
c.643C>T (p.Leu215=)
c.532C>T (p.Leu178=)
c.409C>T (p.Leu137=)
n.668C>T
c.*86C>T (n.*86C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149855dupCA645529524VHLc.*209dup (n.*209dup)
c.668dup (n.668dup)
c.643dup (p.Leu215ProfsTer?)
c.532dup (p.Leu178ProfsTer?)
c.409dup (p.Leu137ProfsTer?)
n.668dup
c.*86dup (n.*86dup)
COSMIC
3g.10149855_10149857delinsCTGCA1345062510VHLc.*209_*211delinsCTG (n.*209_*211delinsCTG)
c.668_670delinsCTG (n.668_670delinsCTG)
c.643_645delinsCTG (p.Leu215=)
c.532_534delinsCTG (p.Leu178=)
c.409_411delinsCTG (p.Leu137=)
n.668_670delinsCTG
c.*86_*88delinsCTG (n.*86_*88delinsCTG)
3g.10149855_10149865delinsATTACA2499306820VHLc.*209_*219delinsATTA (n.*209_*219delinsATTA)
c.668_678delinsATTA (n.668_678delinsATTA)
c.643_653delinsATTA (p.Leu215IlefsTer22)
c.532_542delinsATTA (p.Leu178IlefsTer22)
c.409_419delinsATTA (p.Leu137IlefsTer22)
n.668_678delinsATTA
c.*86_*96delinsATTA (n.*86_*96delinsATTA)
3g.10149856T>ACA70052370VHLc.*210T>A (n.*210T>A)
c.669T>A (n.669T>A)
c.644T>A (p.Leu215Gln)
c.533T>A (p.Leu178Gln)
c.410T>A (p.Leu137Gln)
n.669T>A
c.*87T>A (n.*87T>A)
ClinVar dbSNP
3g.10149856T>CCA351756245VHLc.*210T>C (n.*210T>C)
c.669T>C (n.669T>C)
c.644T>C (p.Leu215Pro)
c.533T>C (p.Leu178Pro)
c.410T>C (p.Leu137Pro)
n.669T>C
c.*87T>C (n.*87T>C)
ClinVar dbSNP gnomAD v4 COSMIC
3g.10149856T>GCA351756248VHLc.*210T>G (n.*210T>G)
c.669T>G (n.669T>G)
c.644T>G (p.Leu215Arg)
c.533T>G (p.Leu178Arg)
c.410T>G (p.Leu137Arg)
n.669T>G
c.*87T>G (n.*87T>G)
ClinVar dbSNP COSMIC
3g.10149856T=CA1345062520VHLc.*210T= (n.*210T=)
c.669T= (n.669T=)
c.644T= (p.Leu215=)
c.533T= (p.Leu178=)
c.410T= (p.Leu137=)
n.669T=
c.*87T= (n.*87T=)
3g.10149856dupCA645529526VHLc.*210dup (n.*210dup)
c.669dup (n.669dup)
c.644dup (p.Asp216GlyfsTer?)
c.533dup (p.Asp179GlyfsTer?)
c.410dup (p.Asp138GlyfsTer?)
n.669dup
c.*87dup (n.*87dup)
COSMIC
3g.10149856_10149857delCA645509027VHLc.*210_*211del (n.*210_*211del)
c.669_670del (n.669_670del)
c.644_645del (p.Leu215ArgfsTer?)
c.533_534del (p.Leu178ArgfsTer?)
c.410_411del (p.Leu137ArgfsTer?)
n.669_670del
c.*87_*88del (n.*87_*88del)
ClinVar dbSNP COSMIC
3g.10149856_10149867delCA645529525VHLc.*210_*221del (n.*210_*221del)
c.669_680del (n.669_680del)
c.644_655del (p.Leu215_Val218del)
c.533_544del (p.Leu178_Val181del)
c.410_421del (p.Leu137_Val140del)
n.669_680del
c.*87_*98del (n.*87_*98del)
COSMIC
3g.10149856_10149857insCCA432423500VHLc.*210_*211insC (n.*210_*211insC)
c.669_670insC (n.669_670insC)
c.644_645insC (p.Asp216GlyfsTer?)
c.533_534insC (p.Asp179GlyfsTer?)
c.410_411insC (p.Asp138GlyfsTer?)
n.669_670insC
c.*87_*88insC (n.*87_*88insC)
3g.10149857G>ACA432423498VHLc.*211G>A (n.*211G>A)
c.670G>A (n.670G>A)
c.645G>A (p.Leu215=)
c.534G>A (p.Leu178=)
c.411G>A (p.Leu137=)
n.670G>A
c.*88G>A (n.*88G>A)
3g.10149857G>CCA432423489VHLc.*211G>C (n.*211G>C)
c.670G>C (n.670G>C)
c.645G>C (p.Leu215=)
c.534G>C (p.Leu178=)
c.411G>C (p.Leu137=)
n.670G>C
c.*88G>C (n.*88G>C)
3g.10149857G>TCA432423495VHLc.*211G>T (n.*211G>T)
c.670G>T (n.670G>T)
c.645G>T (p.Leu215=)
c.534G>T (p.Leu178=)
c.411G>T (p.Leu137=)
n.670G>T
c.*88G>T (n.*88G>T)
3g.10149858dupCA645529527VHLc.*212dup (n.*212dup)
c.671dup (n.671dup)
c.646dup (p.Asp216GlyfsTer?)
c.535dup (p.Asp179GlyfsTer?)
c.412dup (p.Asp138GlyfsTer?)
n.671dup
c.*89dup (n.*89dup)
COSMIC
3g.10149858delCA432423491VHLc.*212del (n.*212del)
c.671del (n.671del)
c.646del (p.Asp216ThrfsTer23)
c.535del (p.Asp179ThrfsTer23)
c.412del (p.Asp138ThrfsTer23)
n.671del
c.*89del (n.*89del)
COSMIC COSMIC
3g.10149857_10149858insTCA432423503VHLc.*211_*212insT (n.*211_*212insT)
c.670_671insT (n.670_671insT)
c.645_646insT (p.Asp216Ter)
c.534_535insT (p.Asp179Ter)
c.411_412insT (p.Asp138Ter)
n.670_671insT
c.*88_*89insT (n.*88_*89insT)
3g.10149858G>ACA041455VHLc.*212G>A (n.*212G>A)
c.671G>A (n.671G>A)
c.646G>A (p.Asp216Asn)
c.535G>A (p.Asp179Asn)
c.412G>A (p.Asp138Asn)
n.671G>A
c.*89G>A (n.*89G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.10149858G>CCA351756252VHLc.*212G>C (n.*212G>C)
c.671G>C (n.671G>C)
c.646G>C (p.Asp216His)
c.535G>C (p.Asp179His)
c.412G>C (p.Asp138His)
n.671G>C
c.*89G>C (n.*89G>C)
ClinVar dbSNP
3g.10149858G=CA1345062532VHLc.*212G= (n.*212G=)
c.671G= (n.671G=)
c.646G= (p.Asp216=)
c.535G= (p.Asp179=)
c.412G= (p.Asp138=)
n.671G=
c.*89G= (n.*89G=)
3g.10149858G>TCA351756254VHLc.*212G>T (n.*212G>T)
c.671G>T (n.671G>T)
c.646G>T (p.Asp216Tyr)
c.535G>T (p.Asp179Tyr)
c.412G>T (p.Asp138Tyr)
n.671G>T
c.*89G>T (n.*89G>T)
dbSNP
3g.10149859_10149864delCA645529528VHLc.*213_*218del (n.*213_*218del)
c.672_677del (n.672_677del)
c.647_652del (p.Asp216_Ile217del)
c.536_541del (p.Asp179_Ile180del)
c.413_418del (p.Asp138_Ile139del)
n.672_677del
c.*90_*95del (n.*90_*95del)
COSMIC
3g.10149859delCA432423514VHLc.*213del (n.*213del)
c.672del (n.672del)
c.647del (p.Asp216AlafsTer23)
c.536del (p.Asp179AlafsTer23)
c.413del (p.Asp138AlafsTer23)
n.672del
c.*90del (n.*90del)
COSMIC
3g.10149859A>CCA351756258VHLc.*213A>C (n.*213A>C)
c.672A>C (n.672A>C)
c.647A>C (p.Asp216Ala)
c.536A>C (p.Asp179Ala)
c.413A>C (p.Asp138Ala)
n.672A>C
c.*90A>C (n.*90A>C)
COSMIC
3g.10149859A>GCA351756260VHLc.*213A>G (n.*213A>G)
c.672A>G (n.672A>G)
c.647A>G (p.Asp216Gly)
c.536A>G (p.Asp179Gly)
c.413A>G (p.Asp138Gly)
n.672A>G
c.*90A>G (n.*90A>G)
dbSNP
3g.10149859A>TCA351756262VHLc.*213A>T (n.*213A>T)
c.672A>T (n.672A>T)
c.647A>T (p.Asp216Val)
c.536A>T (p.Asp179Val)
c.413A>T (p.Asp138Val)
n.672A>T
c.*90A>T (n.*90A>T)
dbSNP
3g.10149860_10149861delCA645529529VHLc.*214_*215del (n.*214_*215del)
c.673_674del (n.673_674del)
c.648_649del (p.Ile217ArgfsTer?)
c.537_538del (p.Ile180ArgfsTer?)
c.414_415del (p.Ile139ArgfsTer?)
n.673_674del
c.*91_*92del (n.*91_*92del)
COSMIC
3g.10149859_10149860insGCA432423521VHLc.*213_*214insG (n.*213_*214insG)
c.672_673insG (n.672_673insG)
c.647_648insG (p.Asp216GlufsTer?)
c.536_537insG (p.Asp179GlufsTer?)
c.413_414insG (p.Asp138GlufsTer?)
n.672_673insG
c.*90_*91insG (n.*90_*91insG)
3g.10149860C>ACA351756264VHLc.*214C>A (n.*214C>A)
c.673C>A (n.673C>A)
c.648C>A (p.Asp216Glu)
c.537C>A (p.Asp179Glu)
c.414C>A (p.Asp138Glu)
n.673C>A
c.*91C>A (n.*91C>A)
dbSNP
3g.10149860C>GCA351756267VHLc.*214C>G (n.*214C>G)
c.673C>G (n.673C>G)
c.648C>G (p.Asp216Glu)
c.537C>G (p.Asp179Glu)
c.414C>G (p.Asp138Glu)
n.673C>G
c.*91C>G (n.*91C>G)
dbSNP
3g.10149860C>TCA432423518VHLc.*214C>T (n.*214C>T)
c.673C>T (n.673C>T)
c.648C>T (p.Asp216=)
c.537C>T (p.Asp179=)
c.414C>T (p.Asp138=)
n.673C>T
c.*91C>T (n.*91C>T)
ClinVar dbSNP
3g.10149861A=CA1345062538VHLc.*215A= (n.*215A=)
c.674A= (n.674A=)
c.649A= (p.Ile217=)
c.538A= (p.Ile180=)
c.415A= (p.Ile139=)
n.674A=
c.*92A= (n.*92A=)
3g.10149861A>CCA351756270VHLc.*215A>C (n.*215A>C)
c.674A>C (n.674A>C)
c.649A>C (p.Ile217Leu)
c.538A>C (p.Ile180Leu)
c.415A>C (p.Ile139Leu)
n.674A>C
c.*92A>C (n.*92A>C)
ClinVar
3g.10149861A>GCA020469VHLc.*215A>G (n.*215A>G)
c.674A>G (n.674A>G)
c.649A>G (p.Ile217Val)
c.538A>G (p.Ile180Val)
c.415A>G (p.Ile139Val)
n.674A>G
c.*92A>G (n.*92A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149861A>TCA351756275VHLc.*215A>T (n.*215A>T)
c.674A>T (n.674A>T)
c.649A>T (p.Ile217Phe)
c.538A>T (p.Ile180Phe)
c.415A>T (p.Ile139Phe)
n.674A>T
c.*92A>T (n.*92A>T)
dbSNP
3g.10149862T>ACA351756277VHLc.*216T>A (n.*216T>A)
c.675T>A (n.675T>A)
c.650T>A (p.Ile217Asn)
c.539T>A (p.Ile180Asn)
c.416T>A (p.Ile139Asn)
n.675T>A
c.*93T>A (n.*93T>A)
dbSNP COSMIC
3g.10149862T>CCA351756280VHLc.*216T>C (n.*216T>C)
c.675T>C (n.675T>C)
c.650T>C (p.Ile217Thr)
c.539T>C (p.Ile180Thr)
c.416T>C (p.Ile139Thr)
n.675T>C
c.*93T>C (n.*93T>C)
3g.10149862T>GCA351756282VHLc.*216T>G (n.*216T>G)
c.675T>G (n.675T>G)
c.650T>G (p.Ile217Ser)
c.539T>G (p.Ile180Ser)
c.416T>G (p.Ile139Ser)
n.675T>G
c.*93T>G (n.*93T>G)
ClinVar dbSNP
3g.10149862T=CA1345062543VHLc.*216T= (n.*216T=)
c.675T= (n.675T=)
c.650T= (p.Ile217=)
c.539T= (p.Ile180=)
c.416T= (p.Ile139=)
n.675T=
c.*93T= (n.*93T=)
3g.10149862_10149866delinsTCGTCCA1345062542VHLc.*216_*220delinsTCGTC (n.*216_*220delinsTCGTC)
c.675_679delinsTCGTC (n.675_679delinsTCGTC)
c.650_654delinsTCGTC (p.Ile217=)
c.539_543delinsTCGTC (p.Ile180=)
c.416_420delinsTCGTC (p.Ile139=)
n.675_679delinsTCGTC
c.*93_*97delinsTCGTC (n.*93_*97delinsTCGTC)
3g.10149862_10149863insGCA645529531VHLc.*216_*217insG (n.*216_*217insG)
c.675_676insG (n.675_676insG)
c.650_651insG (p.Ile217MetfsTer?)
c.539_540insG (p.Ile180MetfsTer?)
c.416_417insG (p.Ile139MetfsTer?)
n.675_676insG
c.*93_*94insG (n.*93_*94insG)
COSMIC
3g.10149863delCA432423541VHLc.*217del (n.*217del)
c.676del (n.676del)
c.651del (p.Ile217MetfsTer22)
c.540del (p.Ile180MetfsTer22)
c.417del (p.Ile139MetfsTer22)
n.676del
c.*94del (n.*94del)
COSMIC
3g.10149863C>ACA432423535VHLc.*217C>A (n.*217C>A)
c.676C>A (n.676C>A)
c.651C>A (p.Ile217=)
c.540C>A (p.Ile180=)
c.417C>A (p.Ile139=)
n.676C>A
c.*94C>A (n.*94C>A)
3g.10149863C=CA1345062548VHLc.*217C= (n.*217C=)
c.676C= (n.676C=)
c.651C= (p.Ile217=)
c.540C= (p.Ile180=)
c.417C= (p.Ile139=)
n.676C=
c.*94C= (n.*94C=)
3g.10149863C>GCA351756286VHLc.*217C>G (n.*217C>G)
c.676C>G (n.676C>G)
c.651C>G (p.Ile217Met)
c.540C>G (p.Ile180Met)
c.417C>G (p.Ile139Met)
n.676C>G
c.*94C>G (n.*94C>G)
ClinVar dbSNP gnomAD v4
3g.10149863C>TCA041478VHLc.*217C>T (n.*217C>T)
c.676C>T (n.676C>T)
c.651C>T (p.Ile217=)
c.540C>T (p.Ile180=)
c.417C>T (p.Ile139=)
n.676C>T
c.*94C>T (n.*94C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.10149863_10149866delCA357022VHLc.*217_*220del (n.*217_*220del)
c.676_679del (n.676_679del)
c.651_654del (p.Val218GlyfsTer20)
c.540_543del (p.Val181GlyfsTer20)
c.417_420del (p.Val140GlyfsTer20)
n.676_679del
c.*94_*97del (n.*94_*97del)
ClinVar dbSNP
3g.10149863_10149867delinsTCA645529530VHLc.*217_*221delinsT (n.*217_*221delinsT)
c.676_680delinsT (n.676_680delinsT)
c.651_655delinsT (p.Val218GlyfsTer20)
c.540_544delinsT (p.Val181GlyfsTer20)
c.417_421delinsT (p.Val140GlyfsTer20)
n.676_680delinsT
c.*94_*98delinsT (n.*94_*98delinsT)
COSMIC
3g.10149864delCA432423544VHLc.*218del (n.*218del)
c.677del (n.677del)
c.652del (p.Val218SerfsTer21)
c.541del (p.Val181SerfsTer21)
c.418del (p.Val140SerfsTer21)
n.677del
c.*95del (n.*95del)
COSMIC
3g.10149864G>ACA10582117VHLc.*218G>A (n.*218G>A)
c.677G>A (n.677G>A)
c.652G>A (p.Val218Ile)
c.541G>A (p.Val181Ile)
c.418G>A (p.Val140Ile)
n.677G>A
c.*95G>A (n.*95G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149864G>CCA351756295VHLc.*218G>C (n.*218G>C)
c.677G>C (n.677G>C)
c.652G>C (p.Val218Leu)
c.541G>C (p.Val181Leu)
c.418G>C (p.Val140Leu)
n.677G>C
c.*95G>C (n.*95G>C)
ClinVar dbSNP
3g.10149864G=CA1345062570VHLc.*218G= (n.*218G=)
c.677G= (n.677G=)
c.652G= (p.Val218=)
c.541G= (p.Val181=)
c.418G= (p.Val140=)
n.677G=
c.*95G= (n.*95G=)
3g.10149864G>TCA351756298VHLc.*218G>T (n.*218G>T)
c.677G>T (n.677G>T)
c.652G>T (p.Val218Phe)
c.541G>T (p.Val181Phe)
c.418G>T (p.Val140Phe)
n.677G>T
c.*95G>T (n.*95G>T)
3g.10149864dupCA432423549VHLc.*218dup (n.*218dup)
c.677dup (n.677dup)
c.652dup (p.Val218GlyfsTer?)
c.541dup (p.Val181GlyfsTer?)
c.418dup (p.Val140GlyfsTer?)
n.677dup
c.*95dup (n.*95dup)
3g.10149865_10149868delCA645529533VHLc.*219_*222del (n.*219_*222del)
c.678_681del (n.678_681del)
c.653_656del (p.Val218GlyfsTer20)
c.542_545del (p.Val181GlyfsTer20)
c.419_422del (p.Val140GlyfsTer20)
n.678_681del
c.*96_*99del (n.*96_*99del)
COSMIC
3g.10149864_10149870delCA645529532VHLc.*218_*224del (n.*218_*224del)
c.677_683del (n.677_683del)
c.652_658del (p.Val218ArgfsTer19)
c.541_547del (p.Val181ArgfsTer19)
c.418_424del (p.Val140ArgfsTer19)
n.677_683del
c.*95_*101del (n.*95_*101del)
COSMIC
3g.10149865T>ACA351756304VHLc.*219T>A (n.*219T>A)
c.678T>A (n.678T>A)
c.653T>A (p.Val218Asp)
c.542T>A (p.Val181Asp)
c.419T>A (p.Val140Asp)
n.678T>A
c.*96T>A (n.*96T>A)
dbSNP
3g.10149865T>CCA351756307VHLc.*219T>C (n.*219T>C)
c.678T>C (n.678T>C)
c.653T>C (p.Val218Ala)
c.542T>C (p.Val181Ala)
c.419T>C (p.Val140Ala)
n.678T>C
c.*96T>C (n.*96T>C)
ClinVar dbSNP gnomAD v4
3g.10149865T>GCA351756301VHLc.*219T>G (n.*219T>G)
c.678T>G (n.678T>G)
c.653T>G (p.Val218Gly)
c.542T>G (p.Val181Gly)
c.419T>G (p.Val140Gly)
n.678T>G
c.*96T>G (n.*96T>G)
dbSNP
3g.10149865T=CA1345062574VHLc.*219T= (n.*219T=)
c.678T= (n.678T=)
c.653T= (p.Val218=)
c.542T= (p.Val181=)
c.419T= (p.Val140=)
n.678T=
c.*96T= (n.*96T=)
3g.10149866C>ACA432423555VHLc.*220C>A (n.*220C>A)
c.679C>A (n.679C>A)
c.654C>A (p.Val218=)
c.543C>A (p.Val181=)
c.420C>A (p.Val140=)
n.679C>A
c.*97C>A (n.*97C>A)
dbSNP
3g.10149866C>GCA432423557VHLc.*220C>G (n.*220C>G)
c.679C>G (n.679C>G)
c.654C>G (p.Val218=)
c.543C>G (p.Val181=)
c.420C>G (p.Val140=)
n.679C>G
c.*97C>G (n.*97C>G)
dbSNP gnomAD v3 gnomAD v4
3g.10149866C>TCA432423559VHLc.*220C>T (n.*220C>T)
c.679C>T (n.679C>T)
c.654C>T (p.Val218=)
c.543C>T (p.Val181=)
c.420C>T (p.Val140=)
n.679C>T
c.*97C>T (n.*97C>T)
dbSNP gnomAD v4
3g.10149866dupCA645369326VHLc.*220dup (n.*220dup)
c.679dup (n.679dup)
c.654dup (p.Arg219GlnfsTer?)
c.543dup (p.Arg182GlnfsTer?)
c.420dup (p.Arg141GlnfsTer?)
n.679dup
c.*97dup (n.*97dup)
ClinVar dbSNP
3g.10149866_10149867insTCA645529536VHLc.*220_*221insT (n.*220_*221insT)
c.679_680insT (n.679_680insT)
c.654_655insT (p.Arg219Ter)
c.543_544insT (p.Arg182Ter)
c.420_421insT (p.Arg141Ter)
n.679_680insT
c.*97_*98insT (n.*97_*98insT)
COSMIC
3g.10149867delCA645529535VHLc.*221del (n.*221del)
c.680del (n.680del)
c.655del (p.Arg219GlyfsTer20)
c.544del (p.Arg182GlyfsTer20)
c.421del (p.Arg141GlyfsTer20)
n.680del
c.*98del (n.*98del)
COSMIC
3g.10149867A=CA1345062589VHLc.*221A= (n.*221A=)
c.680A= (n.680A=)
c.655A= (p.Arg219=)
c.544A= (p.Arg182=)
c.421A= (p.Arg141=)
n.680A=
c.*98A= (n.*98A=)
3g.10149867A>CCA432423561VHLc.*221A>C (n.*221A>C)
c.680A>C (n.680A>C)
c.655A>C (p.Arg219=)
c.544A>C (p.Arg182=)
c.421A>C (p.Arg141=)
n.680A>C
c.*98A>C (n.*98A>C)
3g.10149867A>GCA041490VHLc.*221A>G (n.*221A>G)
c.680A>G (n.680A>G)
c.655A>G (p.Arg219Gly)
c.544A>G (p.Arg182Gly)
c.421A>G (p.Arg141Gly)
n.680A>G
c.*98A>G (n.*98A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149867A>TCA351756310VHLc.*221A>T (n.*221A>T)
c.680A>T (n.680A>T)
c.655A>T (p.Arg219Trp)
c.544A>T (p.Arg182Trp)
c.421A>T (p.Arg141Trp)
n.680A>T
c.*98A>T (n.*98A>T)
3g.10149867_10149868delCA645529534VHLc.*221_*222del (n.*221_*222del)
c.680_681del (n.680_681del)
c.655_656del (p.Arg219ValfsTer?)
c.544_545del (p.Arg182ValfsTer?)
c.421_422del (p.Arg141ValfsTer?)
n.680_681del
c.*98_*99del (n.*98_*99del)
COSMIC
3g.10149867_10149868delinsAGCA1345062585VHLc.*221_*222delinsAG (n.*221_*222delinsAG)
c.680_681delinsAG (n.680_681delinsAG)
c.655_656delinsAG (p.Arg219=)
c.544_545delinsAG (p.Arg182=)
c.421_422delinsAG (p.Arg141=)
n.680_681delinsAG
c.*98_*99delinsAG (n.*98_*99delinsAG)
3g.10149867_10149868insTCA432423576VHLc.*221_*222insT (n.*221_*222insT)
c.680_681insT (n.680_681insT)
c.655_656insT (p.Arg219MetfsTer?)
c.544_545insT (p.Arg182MetfsTer?)
c.421_422insT (p.Arg141MetfsTer?)
n.680_681insT
c.*98_*99insT (n.*98_*99insT)
3g.10149868G>ACA041507VHLc.*222G>A (n.*222G>A)
c.681G>A (n.681G>A)
c.656G>A (p.Arg219Lys)
c.545G>A (p.Arg182Lys)
c.422G>A (p.Arg141Lys)
n.681G>A
c.*99G>A (n.*99G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.10149868G>CCA351756315VHLc.*222G>C (n.*222G>C)
c.681G>C (n.681G>C)
c.656G>C (p.Arg219Thr)
c.545G>C (p.Arg182Thr)
c.422G>C (p.Arg141Thr)
n.681G>C
c.*99G>C (n.*99G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149868G=CA1345062597VHLc.*222G= (n.*222G=)
c.681G= (n.681G=)
c.656G= (p.Arg219=)
c.545G= (p.Arg182=)
c.422G= (p.Arg141=)
n.681G=
c.*99G= (n.*99G=)
3g.10149868G>TCA351756317VHLc.*222G>T (n.*222G>T)
c.681G>T (n.681G>T)
c.656G>T (p.Arg219Met)
c.545G>T (p.Arg182Met)
c.422G>T (p.Arg141Met)
n.681G>T
c.*99G>T (n.*99G>T)
ClinVar dbSNP gnomAD v4
3g.10149869delCA357093VHLc.*223del (n.*223del)
c.682del (n.682del)
c.657del (p.Arg219SerfsTer20)
c.546del (p.Arg182SerfsTer20)
c.423del (p.Arg141SerfsTer20)
n.682del
c.*100del (n.*100del)
ClinVar dbSNP COSMIC COSMIC
3g.10149869G>ACA432423578VHLc.*223G>A (n.*223G>A)
c.682G>A (n.682G>A)
c.657G>A (p.Arg219=)
c.546G>A (p.Arg182=)
c.423G>A (p.Arg141=)
n.682G>A
c.*100G>A (n.*100G>A)
dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.10149869G>CCA351756323VHLc.*223G>C (n.*223G>C)
c.682G>C (n.682G>C)
c.657G>C (p.Arg219Ser)
c.546G>C (p.Arg182Ser)
c.423G>C (p.Arg141Ser)
n.682G>C
c.*100G>C (n.*100G>C)
dbSNP
3g.10149869G=CA1345062600VHLc.*223G= (n.*223G=)
c.682G= (n.682G=)
c.657G= (p.Arg219=)
c.546G= (p.Arg182=)
c.423G= (p.Arg141=)
n.682G=
c.*100G= (n.*100G=)
3g.10149869G>TCA351756325VHLc.*223G>T (n.*223G>T)
c.682G>T (n.682G>T)
c.657G>T (p.Arg219Ser)
c.546G>T (p.Arg182Ser)
c.423G>T (p.Arg141Ser)
n.682G>T
c.*100G>T (n.*100G>T)
dbSNP gnomAD v2 gnomAD v4
3g.10149869_10149870delinsGTCA1345062602VHLc.*223_*224delinsGT (n.*223_*224delinsGT)
c.682_683delinsGT (n.682_683delinsGT)
c.657_658delinsGT (p.Arg219=)
c.546_547delinsGT (p.Arg182=)
c.423_424delinsGT (p.Arg141=)
n.682_683delinsGT
c.*100_*101delinsGT (n.*100_*101delinsGT)
3g.10149870delCA432423593VHLc.*224del (n.*224del)
c.683del (n.683del)
c.658del (p.Ser220ArgfsTer19)
c.547del (p.Ser183ArgfsTer19)
c.424del (p.Ser142ArgfsTer19)
n.683del
c.*101del (n.*101del)
ClinVar dbSNP COSMIC
3g.10149870T>ACA351756328VHLc.*224T>A (n.*224T>A)
c.683T>A (n.683T>A)
c.658T>A (p.Ser220Thr)
c.547T>A (p.Ser183Thr)
c.424T>A (p.Ser142Thr)
n.683T>A
c.*101T>A (n.*101T>A)
dbSNP
3g.10149870T>CCA351756330VHLc.*224T>C (n.*224T>C)
c.683T>C (n.683T>C)
c.658T>C (p.Ser220Pro)
c.547T>C (p.Ser183Pro)
c.424T>C (p.Ser142Pro)
n.683T>C
c.*101T>C (n.*101T>C)
dbSNP
3g.10149870T>GCA351756332VHLc.*224T>G (n.*224T>G)
c.683T>G (n.683T>G)
c.658T>G (p.Ser220Ala)
c.547T>G (p.Ser183Ala)
c.424T>G (p.Ser142Ala)
n.683T>G
c.*101T>G (n.*101T>G)
dbSNP
3g.10149870dupCA432423590VHLc.*224dup (n.*224dup)
c.683dup (n.683dup)
c.658dup (p.Ser220PhefsTer?)
c.547dup (p.Ser183PhefsTer?)
c.424dup (p.Ser142PhefsTer?)
n.683dup
c.*101dup (n.*101dup)
COSMIC
3g.10149871delCA658795184VHLc.*225del (n.*225del)
c.684del (n.684del)
c.659del (p.Ser220CysfsTer19)
c.548del (p.Ser183CysfsTer19)
c.425del (p.Ser142CysfsTer19)
n.684del
c.*102del (n.*102del)
3g.10149871C>ACA020473VHLc.*225C>A (n.*225C>A)
c.684C>A (n.684C>A)
c.659C>A (p.Ser220Ter)
c.548C>A (p.Ser183Ter)
c.425C>A (p.Ser142Ter)
n.684C>A
c.*102C>A (n.*102C>A)
ClinVar dbSNP COSMIC
3g.10149871C=CA1345062607VHLc.*225C= (n.*225C=)
c.684C= (n.684C=)
c.659C= (p.Ser220=)
c.548C= (p.Ser183=)
c.425C= (p.Ser142=)
n.684C=
c.*102C= (n.*102C=)
3g.10149871C>GCA277912VHLc.*225C>G (n.*225C>G)
c.684C>G (n.684C>G)
c.659C>G (p.Ser220Trp)
c.548C>G (p.Ser183Trp)
c.425C>G (p.Ser142Trp)
n.684C>G
c.*102C>G (n.*102C>G)
ClinVar dbSNP
3g.10149871C>TCA041537VHLc.*225C>T (n.*225C>T)
c.684C>T (n.684C>T)
c.659C>T (p.Ser220Leu)
c.548C>T (p.Ser183Leu)
c.425C>T (p.Ser142Leu)
n.684C>T
c.*102C>T (n.*102C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149871_10149878delCA645529538VHLc.*225_*232del (n.*225_*232del)
c.684_691del (n.684_691del)
c.659_666del (p.Ser220Ter)
c.548_555del (p.Ser183Ter)
c.425_432del (p.Ser142Ter)
n.684_691del
c.*102_*109del (n.*102_*109del)
COSMIC
3g.10149873_10149879delCA645529537VHLc.*227_*233del (n.*227_*233del)
c.686_692del (n.686_692del)
c.661_667del (p.Leu221LysfsTer16)
c.550_556del (p.Leu184LysfsTer16)
c.427_433del (p.Leu143LysfsTer16)
n.686_692del
c.*104_*110del (n.*104_*110del)
COSMIC
3g.10149872G>ACA020477VHLc.*226G>A (n.*226G>A)
c.685G>A (n.685G>A)
c.660G>A (p.Ser220=)
c.549G>A (p.Ser183=)
c.426G>A (p.Ser142=)
n.685G>A
c.*103G>A (n.*103G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.10149872G>CCA432423601VHLc.*226G>C (n.*226G>C)
c.685G>C (n.685G>C)
c.660G>C (p.Ser220=)
c.549G>C (p.Ser183=)
c.426G>C (p.Ser142=)
n.685G>C
c.*103G>C (n.*103G>C)
dbSNP gnomAD v3 gnomAD v4
3g.10149872G=CA1345062615VHLc.*226G= (n.*226G=)
c.685G= (n.685G=)
c.660G= (p.Ser220=)
c.549G= (p.Ser183=)
c.426G= (p.Ser142=)
n.685G=
c.*103G= (n.*103G=)
3g.10149872G>TCA348201VHLc.*226G>T (n.*226G>T)
c.685G>T (n.685G>T)
c.660G>T (p.Ser220=)
c.549G>T (p.Ser183=)
c.426G>T (p.Ser142=)
n.685G>T
c.*103G>T (n.*103G>T)
ClinVar dbSNP gnomAD v4
3g.10149873_10149882delCA645529539VHLc.*227_*236del (n.*227_*236del)
c.686_695del (n.686_695del)
c.661_670del (p.Leu221IlefsTer15)
c.550_559del (p.Leu184IlefsTer15)
c.427_436del (p.Leu143IlefsTer15)
n.686_695del
c.*104_*113del (n.*104_*113del)
COSMIC
3g.10149873C>ACA351756344VHLc.*227C>A (n.*227C>A)
c.686C>A (n.686C>A)
c.661C>A (p.Leu221Ile)
c.550C>A (p.Leu184Ile)
c.427C>A (p.Leu143Ile)
n.686C>A
c.*104C>A (n.*104C>A)
dbSNP
3g.10149873C=CA1345062618VHLc.*227C= (n.*227C=)
c.686C= (n.686C=)
c.661C= (p.Leu221=)
c.550C= (p.Leu184=)
c.427C= (p.Leu143=)
n.686C=
c.*104C= (n.*104C=)
3g.10149873C>GCA351756347VHLc.*227C>G (n.*227C>G)
c.686C>G (n.686C>G)
c.661C>G (p.Leu221Val)
c.550C>G (p.Leu184Val)
c.427C>G (p.Leu143Val)
n.686C>G
c.*104C>G (n.*104C>G)
ClinVar dbSNP
3g.10149873C>TCA351756349VHLc.*227C>T (n.*227C>T)
c.686C>T (n.686C>T)
c.661C>T (p.Leu221Phe)
c.550C>T (p.Leu184Phe)
c.427C>T (p.Leu143Phe)
n.686C>T
c.*104C>T (n.*104C>T)
3g.10149875_10149876delCA645529540VHLc.*229_*230del (n.*229_*230del)
c.688_689del (n.688_689del)
c.663_664del (p.Tyr222ArgfsTer?)
c.552_553del (p.Tyr185ArgfsTer?)
c.429_430del (p.Tyr144ArgfsTer?)
n.688_689del
c.*106_*107del (n.*106_*107del)
COSMIC
3g.10149874T>ACA351756352VHLc.*228T>A (n.*228T>A)
c.687T>A (n.687T>A)
c.662T>A (p.Leu221His)
c.551T>A (p.Leu184His)
c.428T>A (p.Leu143His)
n.687T>A
c.*105T>A (n.*105T>A)
dbSNP COSMIC
3g.10149874T>CCA16617792VHLc.*228T>C (n.*228T>C)
c.687T>C (n.687T>C)
c.662T>C (p.Leu221Pro)
c.551T>C (p.Leu184Pro)
c.428T>C (p.Leu143Pro)
n.687T>C
c.*105T>C (n.*105T>C)
ClinVar dbSNP COSMIC
3g.10149874T>GCA351756355VHLc.*228T>G (n.*228T>G)
c.687T>G (n.687T>G)
c.662T>G (p.Leu221Arg)
c.551T>G (p.Leu184Arg)
c.428T>G (p.Leu143Arg)
n.687T>G
c.*105T>G (n.*105T>G)
dbSNP COSMIC
3g.10149874T=CA1345062620VHLc.*228T= (n.*228T=)
c.687T= (n.687T=)
c.662T= (p.Leu221=)
c.551T= (p.Leu184=)
c.428T= (p.Leu143=)
n.687T=
c.*105T= (n.*105T=)
3g.10149877_10149886delCA645529541VHLc.*231_*240del (n.*231_*240del)
c.690_699del (n.690_699del)
c.665_674del (p.Tyr222TrpfsTer14)
c.554_563del (p.Tyr185TrpfsTer14)
c.431_440del (p.Tyr144TrpfsTer14)
n.690_699del
c.*108_*117del (n.*108_*117del)
COSMIC
3g.10149875C>ACA432423612VHLc.*229C>A (n.*229C>A)
c.688C>A (n.688C>A)
c.663C>A (p.Leu221=)
c.552C>A (p.Leu184=)
c.429C>A (p.Leu143=)
n.688C>A
c.*106C>A (n.*106C>A)
dbSNP
3g.10149875C=CA1345062625VHLc.*229C= (n.*229C=)
c.688C= (n.688C=)
c.663C= (p.Leu221=)
c.552C= (p.Leu184=)
c.429C= (p.Leu143=)
n.688C=
c.*106C= (n.*106C=)
3g.10149875C>GCA70052427VHLc.*229C>G (n.*229C>G)
c.688C>G (n.688C>G)
c.663C>G (p.Leu221=)
c.552C>G (p.Leu184=)
c.429C>G (p.Leu143=)
n.688C>G
c.*106C>G (n.*106C>G)
ClinVar dbSNP gnomAD v4
3g.10149875C>TCA041571VHLc.*229C>T (n.*229C>T)
c.688C>T (n.688C>T)
c.663C>T (p.Leu221=)
c.552C>T (p.Leu184=)
c.429C>T (p.Leu143=)
n.688C>T
c.*106C>T (n.*106C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149876delCA432423620VHLc.*230del (n.*230del)
c.689del (n.689del)
c.664del (p.Tyr222ThrfsTer17)
c.553del (p.Tyr185ThrfsTer17)
c.430del (p.Tyr144ThrfsTer17)
n.689del
c.*107del (n.*107del)
COSMIC
3g.10149876T>ACA041587VHLc.*230T>A (n.*230T>A)
c.689T>A (n.689T>A)
c.664T>A (p.Tyr222Asn)
c.553T>A (p.Tyr185Asn)
c.430T>A (p.Tyr144Asn)
n.689T>A
c.*107T>A (n.*107T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149876T>CCA351756363VHLc.*230T>C (n.*230T>C)
c.689T>C (n.689T>C)
c.664T>C (p.Tyr222His)
c.553T>C (p.Tyr185His)
c.430T>C (p.Tyr144His)
n.689T>C
c.*107T>C (n.*107T>C)
ClinVar dbSNP
3g.10149876T>GCA351756365VHLc.*230T>G (n.*230T>G)
c.689T>G (n.689T>G)
c.664T>G (p.Tyr222Asp)
c.553T>G (p.Tyr185Asp)
c.430T>G (p.Tyr144Asp)
n.689T>G
c.*107T>G (n.*107T>G)
3g.10149876T=CA1345062628VHLc.*230T= (n.*230T=)
c.689T= (n.689T=)
c.664T= (p.Tyr222=)
c.553T= (p.Tyr185=)
c.430T= (p.Tyr144=)
n.689T=
c.*107T= (n.*107T=)
3g.10149876_10149877insGCA645529543VHLc.*230_*231insG (n.*230_*231insG)
c.689_690insG (n.689_690insG)
c.664_665insG (p.Tyr222Ter)
c.553_554insG (p.Tyr185Ter)
c.430_431insG (p.Tyr144Ter)
n.689_690insG
c.*107_*108insG (n.*107_*108insG)
COSMIC
3g.10149877delCA432423624VHLc.*231del (n.*231del)
c.690del (n.690del)
c.665del (p.Tyr222SerfsTer17)
c.554del (p.Tyr185SerfsTer17)
c.431del (p.Tyr144SerfsTer17)
n.690del
c.*108del (n.*108del)
COSMIC
3g.10149877A=CA1345062634VHLc.*231A= (n.*231A=)
c.690A= (n.690A=)
c.665A= (p.Tyr222=)
c.554A= (p.Tyr185=)
c.431A= (p.Tyr144=)
n.690A=
c.*108A= (n.*108A=)
3g.10149877A>CCA351756368VHLc.*231A>C (n.*231A>C)
c.690A>C (n.690A>C)
c.665A>C (p.Tyr222Ser)
c.554A>C (p.Tyr185Ser)
c.431A>C (p.Tyr144Ser)
n.690A>C
c.*108A>C (n.*108A>C)
dbSNP gnomAD v3 gnomAD v4
3g.10149877A>GCA041601VHLc.*231A>G (n.*231A>G)
c.690A>G (n.690A>G)
c.665A>G (p.Tyr222Cys)
c.554A>G (p.Tyr185Cys)
c.431A>G (p.Tyr144Cys)
n.690A>G
c.*108A>G (n.*108A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149877A>TCA351756373VHLc.*231A>T (n.*231A>T)
c.690A>T (n.690A>T)
c.665A>T (p.Tyr222Phe)
c.554A>T (p.Tyr185Phe)
c.431A>T (p.Tyr144Phe)
n.690A>T
c.*108A>T (n.*108A>T)
ClinVar dbSNP COSMIC
3g.10149878_10149880delCA2695197743VHLc.*232_*234del (n.*232_*234del)
c.691_693del (n.691_693del)
c.666_668del (p.Tyr222Ter)
c.555_557del (p.Tyr185Ter)
c.432_434del (p.Tyr144Ter)
n.691_693del
c.*109_*111del (n.*109_*111del)
ClinVar
3g.10149877_10149895delCA645529542VHLc.*231_*249del (n.*231_*249del)
c.690_708del (n.690_708del)
c.665_683del (p.Tyr222SerfsTer11)
c.554_572del (p.Tyr185SerfsTer11)
c.431_449del (p.Tyr144SerfsTer11)
n.690_708del
c.*108_*126del (n.*108_*126del)
COSMIC
3g.10149877_10149878insGCA432423630VHLc.*231_*232insG (n.*231_*232insG)
c.690_691insG (n.690_691insG)
c.665_666insG (p.Tyr222Ter)
c.554_555insG (p.Tyr185Ter)
c.431_432insG (p.Tyr144Ter)
n.690_691insG
c.*108_*109insG (n.*108_*109insG)
3g.10149878delCA432423635VHLc.*232del (n.*232del)
c.691del (n.691del)
c.666del (p.Tyr222Ter)
c.555del (p.Tyr185Ter)
c.432del (p.Tyr144Ter)
n.691del
c.*109del (n.*109del)
COSMIC
3g.10149878C>ACA351756378VHLc.*232C>A (n.*232C>A)
c.691C>A (n.691C>A)
c.666C>A (p.Tyr222Ter)
c.555C>A (p.Tyr185Ter)
c.432C>A (p.Tyr144Ter)
n.691C>A
c.*109C>A (n.*109C>A)
ClinVar dbSNP COSMIC
3g.10149878C=CA1345062642VHLc.*232C= (n.*232C=)
c.691C= (n.691C=)
c.666C= (p.Tyr222=)
c.555C= (p.Tyr185=)
c.432C= (p.Tyr144=)
n.691C=
c.*109C= (n.*109C=)
3g.10149878C>GCA357075VHLc.*232C>G (n.*232C>G)
c.691C>G (n.691C>G)
c.666C>G (p.Tyr222Ter)
c.555C>G (p.Tyr185Ter)
c.432C>G (p.Tyr144Ter)
n.691C>G
c.*109C>G (n.*109C>G)
ClinVar dbSNP COSMIC
3g.10149878C>TCA349343VHLc.*232C>T (n.*232C>T)
c.691C>T (n.691C>T)
c.666C>T (p.Tyr222=)
c.555C>T (p.Tyr185=)
c.432C>T (p.Tyr144=)
n.691C>T
c.*109C>T (n.*109C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.10149878_10149881delinsCGAACA1345062645VHLc.*232_*235delinsCGAA (n.*232_*235delinsCGAA)
c.691_694delinsCGAA (n.691_694delinsCGAA)
c.666_669delinsCGAA (p.Tyr222=)
c.555_558delinsCGAA (p.Tyr185=)
c.432_435delinsCGAA (p.Tyr144=)
n.691_694delinsCGAA
c.*109_*112delinsCGAA (n.*109_*112delinsCGAA)
3g.10149878_10149882delinsATCA645529544VHLc.*232_*236delinsAT (n.*232_*236delinsAT)
c.691_695delinsAT (n.691_695delinsAT)
c.666_670delinsAT (p.Tyr222Ter)
c.555_559delinsAT (p.Tyr185Ter)
c.432_436delinsAT (p.Tyr144Ter)
n.691_695delinsAT
c.*109_*113delinsAT (n.*109_*113delinsAT)
COSMIC
3g.10149879_10149885delCA645529545VHLc.*233_*239del (n.*233_*239del)
c.692_698del (n.692_698del)
c.667_673del (p.Glu223TrpfsTer14)
c.556_562del (p.Glu186TrpfsTer14)
c.433_439del (p.Glu145TrpfsTer14)
n.692_698del
c.*110_*116del (n.*110_*116del)
COSMIC
3g.10149879G>ACA020480VHLc.*233G>A (n.*233G>A)
c.692G>A (n.692G>A)
c.667G>A (p.Glu223Lys)
c.556G>A (p.Glu186Lys)
c.433G>A (p.Glu145Lys)
n.692G>A
c.*110G>A (n.*110G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149879G>CCA351756383VHLc.*233G>C (n.*233G>C)
c.692G>C (n.692G>C)
c.667G>C (p.Glu223Gln)
c.556G>C (p.Glu186Gln)
c.433G>C (p.Glu145Gln)
n.692G>C
c.*110G>C (n.*110G>C)
ClinVar dbSNP gnomAD v4
3g.10149879G=CA1345062653VHLc.*233G= (n.*233G=)
c.692G= (n.692G=)
c.667G= (p.Glu223=)
c.556G= (p.Glu186=)
c.433G= (p.Glu145=)
n.692G=
c.*110G= (n.*110G=)
3g.10149879G>TCA16604432VHLc.*233G>T (n.*233G>T)
c.692G>T (n.692G>T)
c.667G>T (p.Glu223Ter)
c.556G>T (p.Glu186Ter)
c.433G>T (p.Glu145Ter)
n.692G>T
c.*110G>T (n.*110G>T)
ClinVar dbSNP COSMIC
3g.10149881_10149883delCA658795181VHLc.*235_*237del (n.*235_*237del)
c.694_696del (n.694_696del)
c.669_671del (p.Glu223del)
c.558_560del (p.Glu186del)
c.435_437del (p.Glu145del)
n.694_696del
c.*112_*114del (n.*112_*114del)
ClinVar dbSNP
3g.10149884_10149892delCA645529546VHLc.*238_*246del (n.*238_*246del)
c.697_705del (n.697_705del)
c.672_680del (p.Leu225_Asp227del)
c.561_569del (p.Leu188_Asp190del)
c.438_446del (p.Leu147_Asp149del)
n.697_705del
c.*115_*123del (n.*115_*123del)
COSMIC
3g.10149880A>CCA351756385VHLc.*234A>C (n.*234A>C)
c.693A>C (n.693A>C)
c.668A>C (p.Glu223Ala)
c.557A>C (p.Glu186Ala)
c.434A>C (p.Glu145Ala)
n.693A>C
c.*111A>C (n.*111A>C)
3g.10149880A>GCA351756386VHLc.*234A>G (n.*234A>G)
c.693A>G (n.693A>G)
c.668A>G (p.Glu223Gly)
c.557A>G (p.Glu186Gly)
c.434A>G (p.Glu145Gly)
n.693A>G
c.*111A>G (n.*111A>G)
3g.10149880A>TCA351756387VHLc.*234A>T (n.*234A>T)
c.693A>T (n.693A>T)
c.668A>T (p.Glu223Val)
c.557A>T (p.Glu186Val)
c.434A>T (p.Glu145Val)
n.693A>T
c.*111A>T (n.*111A>T)
3g.10149881delCA432423646VHLc.*235del (n.*235del)
c.694del (n.694del)
c.669del (p.Asp224IlefsTer15)
c.558del (p.Asp187IlefsTer15)
c.435del (p.Asp146IlefsTer15)
n.694del
c.*112del (n.*112del)
COSMIC
3g.10149880_10149884delCA645529547VHLc.*234_*238del (n.*234_*238del)
c.693_697del (n.693_697del)
c.668_672del (p.Glu223AlafsTer?)
c.557_561del (p.Glu186AlafsTer?)
c.434_438del (p.Glu145AlafsTer?)
n.693_697del
c.*111_*115del (n.*111_*115del)
COSMIC
3g.10149881A=CA1345062660VHLc.*235A= (n.*235A=)
c.694A= (n.694A=)
c.669A= (p.Glu223=)
c.558A= (p.Glu186=)
c.435A= (p.Glu145=)
n.694A=
c.*112A= (n.*112A=)
3g.10149881A>CCA020484VHLc.*235A>C (n.*235A>C)
c.694A>C (n.694A>C)
c.669A>C (p.Glu223Asp)
c.558A>C (p.Glu186Asp)
c.435A>C (p.Glu145Asp)
n.694A>C
c.*112A>C (n.*112A>C)
ClinVar dbSNP gnomAD v4
3g.10149881A>GCA432423649VHLc.*235A>G (n.*235A>G)
c.694A>G (n.694A>G)
c.669A>G (p.Glu223=)
c.558A>G (p.Glu186=)
c.435A>G (p.Glu145=)
n.694A>G
c.*112A>G (n.*112A>G)
3g.10149881A>TCA351756388VHLc.*235A>T (n.*235A>T)
c.694A>T (n.694A>T)
c.669A>T (p.Glu223Asp)
c.558A>T (p.Glu186Asp)
c.435A>T (p.Glu145Asp)
n.694A>T
c.*112A>T (n.*112A>T)
dbSNP
3g.10149882_10149883delCA645529548VHLc.*236_*237del (n.*236_*237del)
c.695_696del (n.695_696del)
c.670_671del (p.Asp224SerfsTer?)
c.559_560del (p.Asp187SerfsTer?)
c.436_437del (p.Asp146SerfsTer?)
n.695_696del
c.*113_*114del (n.*113_*114del)
COSMIC
3g.10149881_10149882insCCA645529550VHLc.*235_*236insC (n.*235_*236insC)
c.694_695insC (n.694_695insC)
c.669_670insC (p.Asp224ArgfsTer?)
c.558_559insC (p.Asp187ArgfsTer?)
c.435_436insC (p.Asp146ArgfsTer?)
n.694_695insC
c.*112_*113insC (n.*112_*113insC)
COSMIC
3g.10149882delCA432423654VHLc.*236del (n.*236del)
c.695del (n.695del)
c.670del (p.Asp224IlefsTer15)
c.559del (p.Asp187IlefsTer15)
c.436del (p.Asp146IlefsTer15)
n.695del
c.*113del (n.*113del)
COSMIC
3g.10149882G>ACA351756389VHLc.*236G>A (n.*236G>A)
c.695G>A (n.695G>A)
c.670G>A (p.Asp224Asn)
c.559G>A (p.Asp187Asn)
c.436G>A (p.Asp146Asn)
n.695G>A
c.*113G>A (n.*113G>A)
dbSNP COSMIC
3g.10149882G>CCA351756390VHLc.*236G>C (n.*236G>C)
c.695G>C (n.695G>C)
c.670G>C (p.Asp224His)
c.559G>C (p.Asp187His)
c.436G>C (p.Asp146His)
n.695G>C
c.*113G>C (n.*113G>C)
dbSNP
3g.10149882G>TCA351756391VHLc.*236G>T (n.*236G>T)
c.695G>T (n.695G>T)
c.670G>T (p.Asp224Tyr)
c.559G>T (p.Asp187Tyr)
c.436G>T (p.Asp146Tyr)
n.695G>T
c.*113G>T (n.*113G>T)
3g.10149883_10149903delCA645529549VHLc.*237_*257del (n.*237_*257del)
c.696_716del (n.696_716del)
c.671_691del (p.Asp224_Asn230del)
c.560_580del (p.Asp187_Asn193del)
c.437_457del (p.Asp146_Asn152del)
n.696_716del
c.*114_*134del (n.*114_*134del)
COSMIC
3g.10149882_10149883insCCA432423656VHLc.*236_*237insC (n.*236_*237insC)
c.695_696insC (n.695_696insC)
c.670_671insC (p.Asp224AlafsTer?)
c.559_560insC (p.Asp187AlafsTer?)
c.436_437insC (p.Asp146AlafsTer?)
n.695_696insC
c.*113_*114insC (n.*113_*114insC)
3g.10149883delCA645529551VHLc.*237del (n.*237del)
c.696del (n.696del)
c.671del (p.Asp224ValfsTer15)
c.560del (p.Asp187ValfsTer15)
c.437del (p.Asp146ValfsTer15)
n.696del
c.*114del (n.*114del)
COSMIC
3g.10149883A>CCA351756392VHLc.*237A>C (n.*237A>C)
c.696A>C (n.696A>C)
c.671A>C (p.Asp224Ala)
c.560A>C (p.Asp187Ala)
c.437A>C (p.Asp146Ala)
n.696A>C
c.*114A>C (n.*114A>C)
3g.10149883A>GCA351756393VHLc.*237A>G (n.*237A>G)
c.696A>G (n.696A>G)
c.671A>G (p.Asp224Gly)
c.560A>G (p.Asp187Gly)
c.437A>G (p.Asp146Gly)
n.696A>G
c.*114A>G (n.*114A>G)
3g.10149883A>TCA351756394VHLc.*237A>T (n.*237A>T)
c.696A>T (n.696A>T)
c.671A>T (p.Asp224Val)
c.560A>T (p.Asp187Val)
c.437A>T (p.Asp146Val)
n.696A>T
c.*114A>T (n.*114A>T)
dbSNP COSMIC
3g.10149884delCA432423666VHLc.*238del (n.*238del)
c.697del (n.697del)
c.672del (p.Leu225TrpfsTer14)
c.561del (p.Leu188TrpfsTer14)
c.438del (p.Leu147TrpfsTer14)
n.697del
c.*115del (n.*115del)
COSMIC
3g.10149884T>ACA351756395VHLc.*238T>A (n.*238T>A)
c.697T>A (n.697T>A)
c.672T>A (p.Asp224Glu)
c.561T>A (p.Asp187Glu)
c.438T>A (p.Asp146Glu)
n.697T>A
c.*115T>A (n.*115T>A)
dbSNP
3g.10149884T>CCA041631VHLc.*238T>C (n.*238T>C)
c.697T>C (n.697T>C)
c.672T>C (p.Asp224=)
c.561T>C (p.Asp187=)
c.438T>C (p.Asp146=)
n.697T>C
c.*115T>C (n.*115T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149884T>GCA351756396VHLc.*238T>G (n.*238T>G)
c.697T>G (n.697T>G)
c.672T>G (p.Asp224Glu)
c.561T>G (p.Asp187Glu)
c.438T>G (p.Asp146Glu)
n.697T>G
c.*115T>G (n.*115T>G)
dbSNP
3g.10149884T=CA1345062669VHLc.*238T= (n.*238T=)
c.697T= (n.697T=)
c.672T= (p.Asp224=)
c.561T= (p.Asp187=)
c.438T= (p.Asp146=)
n.697T=
c.*115T= (n.*115T=)
3g.10149884_10149886delCA645529554VHLc.*238_*240del (n.*238_*240del)
c.697_699del (n.697_699del)
c.672_674del (p.Asp224_Leu225delinsGlu)
c.561_563del (p.Asp187_Leu188delinsGlu)
c.438_440del (p.Asp146_Leu147delinsGlu)
n.697_699del
c.*115_*117del (n.*115_*117del)
COSMIC
3g.10149885_10149886delCA645529553VHLc.*239_*240del (n.*239_*240del)
c.698_699del (n.698_699del)
c.673_674del (p.Leu225GlyfsTer?)
c.562_563del (p.Leu188GlyfsTer?)
c.439_440del (p.Leu147GlyfsTer?)
n.698_699del
c.*116_*117del (n.*116_*117del)
COSMIC
3g.10149884_10149887delCA645529552VHLc.*238_*241del (n.*238_*241del)
c.697_700del (n.697_700del)
c.672_675del (p.Asp224GlufsTer14)
c.561_564del (p.Asp187GlufsTer14)
c.438_441del (p.Asp146GlufsTer14)
n.697_700del
c.*115_*118del (n.*115_*118del)
COSMIC
3g.10149884_10149890delinsGCA645529555VHLc.*238_*244delinsG (n.*238_*244delinsG)
c.697_703delinsG (n.697_703delinsG)
c.672_678delinsG (p.Asp224_Leu225del)
c.561_567delinsG (p.Asp187_Leu188del)
c.438_444delinsG (p.Asp146_Leu147del)
n.697_703delinsG
c.*115_*121delinsG (n.*115_*121delinsG)
COSMIC
3g.10149885delCA432423671VHLc.*239del (n.*239del)
c.698del (n.698del)
c.673del (p.Leu225TrpfsTer14)
c.562del (p.Leu188TrpfsTer14)
c.439del (p.Leu147TrpfsTer14)
n.698del
c.*116del (n.*116del)
COSMIC
3g.10149885C>ACA351756397VHLc.*239C>A (n.*239C>A)
c.698C>A (n.698C>A)
c.673C>A (p.Leu225Met)
c.562C>A (p.Leu188Met)
c.439C>A (p.Leu147Met)
n.698C>A
c.*116C>A (n.*116C>A)
dbSNP gnomAD v4
3g.10149885C=CA1345062676VHLc.*239C= (n.*239C=)
c.698C= (n.698C=)
c.673C= (p.Leu225=)
c.562C= (p.Leu188=)
c.439C= (p.Leu147=)
n.698C=
c.*116C= (n.*116C=)
3g.10149885C>GCA020488VHLc.*239C>G (n.*239C>G)
c.698C>G (n.698C>G)
c.673C>G (p.Leu225Val)
c.562C>G (p.Leu188Val)
c.439C>G (p.Leu147Val)
n.698C>G
c.*116C>G (n.*116C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.10149885C>TCA432423668VHLc.*239C>T (n.*239C>T)
c.698C>T (n.698C>T)
c.673C>T (p.Leu225=)
c.562C>T (p.Leu188=)
c.439C>T (p.Leu147=)
n.698C>T
c.*116C>T (n.*116C>T)
ClinVar dbSNP
3g.10149885_10149887delCA2573320489VHLc.*239_*241del (n.*239_*241del)
c.698_700del (n.698_700del)
c.673_675del (p.Leu225del)
c.562_564del (p.Leu188del)
c.439_441del (p.Leu147del)
n.698_700del
c.*116_*118del (n.*116_*118del)
3g.10149886delCA432423679VHLc.*240del (n.*240del)
c.699del (n.699del)
c.674del (p.Leu225ArgfsTer14)
c.563del (p.Leu188ArgfsTer14)
c.440del (p.Leu147ArgfsTer14)
n.699del
c.*117del (n.*117del)
COSMIC
3g.10149886T>ACA351756398VHLc.*240T>A (n.*240T>A)
c.699T>A (n.699T>A)
c.674T>A (p.Leu225Gln)
c.563T>A (p.Leu188Gln)
c.440T>A (p.Leu147Gln)
n.699T>A
c.*117T>A (n.*117T>A)
ClinVar dbSNP COSMIC
3g.10149886T>CCA351756399VHLc.*240T>C (n.*240T>C)
c.699T>C (n.699T>C)
c.674T>C (p.Leu225Pro)
c.563T>C (p.Leu188Pro)
c.440T>C (p.Leu147Pro)
n.699T>C
c.*117T>C (n.*117T>C)
ClinVar dbSNP COSMIC
3g.10149886T>GCA351756400VHLc.*240T>G (n.*240T>G)
c.699T>G (n.699T>G)
c.674T>G (p.Leu225Arg)
c.563T>G (p.Leu188Arg)
c.440T>G (p.Leu147Arg)
n.699T>G
c.*117T>G (n.*117T>G)
ClinVar dbSNP COSMIC
3g.10149886T=CA1345062691VHLc.*240T= (n.*240T=)
c.699T= (n.699T=)
c.674T= (p.Leu225=)
c.563T= (p.Leu188=)
c.440T= (p.Leu147=)
n.699T=
c.*117T= (n.*117T=)
3g.10149886dupCA645529556VHLc.*240dup (n.*240dup)
c.699dup (n.699dup)
c.674dup (p.Glu226GlyfsTer?)
c.563dup (p.Glu189GlyfsTer?)
c.440dup (p.Glu148GlyfsTer?)
n.699dup
c.*117dup (n.*117dup)
COSMIC
3g.10149886_10149887delinsTGCA1345062686VHLc.*240_*241delinsTG (n.*240_*241delinsTG)
c.699_700delinsTG (n.699_700delinsTG)
c.674_675delinsTG (p.Leu225=)
c.563_564delinsTG (p.Leu188=)
c.440_441delinsTG (p.Leu147=)
n.699_700delinsTG
c.*117_*118delinsTG (n.*117_*118delinsTG)
3g.10149887G>ACA432423681VHLc.*241G>A (n.*241G>A)
c.700G>A (n.700G>A)
c.675G>A (p.Leu225=)
c.564G>A (p.Leu188=)
c.441G>A (p.Leu147=)
n.700G>A
c.*118G>A (n.*118G>A)
dbSNP
3g.10149887G>CCA432423683VHLc.*241G>C (n.*241G>C)
c.700G>C (n.700G>C)
c.675G>C (p.Leu225=)
c.564G>C (p.Leu188=)
c.441G>C (p.Leu147=)
n.700G>C
c.*118G>C (n.*118G>C)
dbSNP
3g.10149887G>TCA432423685VHLc.*241G>T (n.*241G>T)
c.700G>T (n.700G>T)
c.675G>T (p.Leu225=)
c.564G>T (p.Leu188=)
c.441G>T (p.Leu147=)
n.700G>T
c.*118G>T (n.*118G>T)
COSMIC
3g.10149887_10149888delCA645529558VHLc.*241_*242del (n.*241_*242del)
c.700_701del (n.700_701del)
c.675_676del (p.Glu226ArgfsTer?)
c.564_565del (p.Glu189ArgfsTer?)
c.441_442del (p.Glu148ArgfsTer?)
n.700_701del
c.*118_*119del (n.*118_*119del)
COSMIC
3g.10149887_10149888delinsTTCA645529559VHLc.*241_*242delinsTT (n.*241_*242delinsTT)
c.700_701delinsTT (n.700_701delinsTT)
c.675_676delinsTT (p.Leu226Ter)
c.564_565delinsTT (p.Leu189Ter)
c.441_442delinsTT (p.Leu148Ter)
n.700_701delinsTT
c.*118_*119delinsTT (n.*118_*119delinsTT)
COSMIC
3g.10149887_10149888dupCA645529557VHLc.*241_*242dup (n.*241_*242dup)
c.700_701dup (n.700_701dup)
c.675_676dup (p.Glu226GlyfsTer14)
c.564_565dup (p.Glu189GlyfsTer14)
c.441_442dup (p.Glu148GlyfsTer14)
n.700_701dup
c.*118_*119dup (n.*118_*119dup)
COSMIC
3g.10149888delCA432423686VHLc.*242del (n.*242del)
c.701del (n.701del)
c.676del (p.Glu226LysfsTer13)
c.565del (p.Glu189LysfsTer13)
c.442del (p.Glu148LysfsTer13)
n.701del
c.*119del (n.*119del)
ClinVar dbSNP COSMIC
3g.10149888_10149891delCA645529560VHLc.*242_*245del (n.*242_*245del)
c.701_704del (n.701_704del)
c.676_679del (p.Glu226ThrfsTer12)
c.565_568del (p.Glu189ThrfsTer12)
c.442_445del (p.Glu148ThrfsTer12)
n.701_704del
c.*119_*122del (n.*119_*122del)
COSMIC
3g.10149887_10149906dupCA2586965684VHLc.*241_*260dup (n.*241_*260dup)
c.700_719dup (n.700_719dup)
c.675_694dup (p.Gln232ArgfsTer14)
c.564_583dup (p.Gln195ArgfsTer14)
c.441_460dup (p.Gln154ArgfsTer14)
n.700_719dup
c.*118_*137dup (n.*118_*137dup)
3g.10149888_10149908dupCA2586963895VHLc.*242_*262dup (n.*242_*262dup)
c.701_721dup (n.701_721dup)
c.676_696dup (p.Gln232_Lys233insGluAspHisProAsnValGln)
c.565_585dup (p.Gln195_Lys196insGluAspHisProAsnValGln)
c.442_462dup (p.Gln154_Lys155insGluAspHisProAsnValGln)
n.701_721dup
c.*119_*139dup (n.*119_*139dup)
3g.10149887_10149888insTCA432423689VHLc.*241_*242insT (n.*241_*242insT)
c.700_701insT (n.700_701insT)
c.675_676insT (p.Glu226Ter)
c.564_565insT (p.Glu189Ter)
c.441_442insT (p.Glu148Ter)
n.700_701insT
c.*118_*119insT (n.*118_*119insT)
3g.10149888G>ACA041671VHLc.*242G>A (n.*242G>A)
c.701G>A (n.701G>A)
c.676G>A (p.Glu226Lys)
c.565G>A (p.Glu189Lys)
c.442G>A (p.Glu148Lys)
n.701G>A
c.*119G>A (n.*119G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.10149888G>CCA351756401VHLc.*242G>C (n.*242G>C)
c.701G>C (n.701G>C)
c.676G>C (p.Glu226Gln)
c.565G>C (p.Glu189Gln)
c.442G>C (p.Glu148Gln)
n.701G>C
c.*119G>C (n.*119G>C)
dbSNP COSMIC
3g.10149888G=CA1345062705VHLc.*242G= (n.*242G=)
c.701G= (n.701G=)
c.676G= (p.Glu226=)
c.565G= (p.Glu189=)
c.442G= (p.Glu148=)
n.701G=
c.*119G= (n.*119G=)
3g.10149888G>TCA351756402VHLc.*242G>T (n.*242G>T)
c.701G>T (n.701G>T)
c.676G>T (p.Glu226Ter)
c.565G>T (p.Glu189Ter)
c.442G>T (p.Glu148Ter)
n.701G>T
c.*119G>T (n.*119G>T)
dbSNP COSMIC
3g.10149888_10149889delinsGACA1345062704VHLc.*242_*243delinsGA (n.*242_*243delinsGA)
c.701_702delinsGA (n.701_702delinsGA)
c.676_677delinsGA (p.Glu226=)
c.565_566delinsGA (p.Glu189=)
c.442_443delinsGA (p.Glu148=)
n.701_702delinsGA
c.*119_*120delinsGA (n.*119_*120delinsGA)
3g.10149888_10149893delCA2573320338VHLc.*242_*247del (n.*242_*247del)
c.701_706del (n.701_706del)
c.676_681del (p.Glu226_Asp227del)
c.565_570del (p.Glu189_Asp190del)
c.442_447del (p.Glu148_Asp149del)
n.701_706del
c.*119_*124del (n.*119_*124del)
3g.10149889A>CCA351756403VHLc.*243A>C (n.*243A>C)
c.702A>C (n.702A>C)
c.677A>C (p.Glu226Ala)
c.566A>C (p.Glu189Ala)
c.443A>C (p.Glu148Ala)
n.702A>C
c.*120A>C (n.*120A>C)
3g.10149889A>GCA351756404VHLc.*243A>G (n.*243A>G)
c.702A>G (n.702A>G)
c.677A>G (p.Glu226Gly)
c.566A>G (p.Glu189Gly)
c.443A>G (p.Glu148Gly)
n.702A>G
c.*120A>G (n.*120A>G)
dbSNP
3g.10149889A>TCA351756405VHLc.*243A>T (n.*243A>T)
c.702A>T (n.702A>T)
c.677A>T (p.Glu226Val)
c.566A>T (p.Glu189Val)
c.443A>T (p.Glu148Val)
n.702A>T
c.*120A>T (n.*120A>T)
dbSNP COSMIC
3g.10149890delCA70052523VHLc.*244del (n.*244del)
c.703del (n.703del)
c.678del (p.Asp227ThrfsTer12)
c.567del (p.Asp190ThrfsTer12)
c.444del (p.Asp149ThrfsTer12)
n.703del
c.*121del (n.*121del)
dbSNP COSMIC
3g.10149889_10149892delCA645529561VHLc.*243_*246del (n.*243_*246del)
c.702_705del (n.702_705del)
c.677_680del (p.Glu226AlafsTer12)
c.566_569del (p.Glu189AlafsTer12)
c.443_446del (p.Glu148AlafsTer12)
n.702_705del
c.*120_*123del (n.*120_*123del)
COSMIC
3g.10149890A=CA1345062710VHLc.*244A= (n.*244A=)
c.703A= (n.703A=)
c.678A= (p.Glu226=)
c.567A= (p.Glu189=)
c.444A= (p.Glu148=)
n.703A=
c.*121A= (n.*121A=)
3g.10149890A>CCA351756406VHLc.*244A>C (n.*244A>C)
c.703A>C (n.703A>C)
c.678A>C (p.Glu226Asp)
c.567A>C (p.Glu189Asp)
c.444A>C (p.Glu148Asp)
n.703A>C
c.*121A>C (n.*121A>C)
3g.10149890A>GCA432423701VHLc.*244A>G (n.*244A>G)
c.703A>G (n.703A>G)
c.678A>G (p.Glu226=)
c.567A>G (p.Glu189=)
c.444A>G (p.Glu148=)
n.703A>G
c.*121A>G (n.*121A>G)
dbSNP gnomAD v3 gnomAD v4
3g.10149890A>TCA351756407VHLc.*244A>T (n.*244A>T)
c.703A>T (n.703A>T)
c.678A>T (p.Glu226Asp)
c.567A>T (p.Glu189Asp)
c.444A>T (p.Glu148Asp)
n.703A>T
c.*121A>T (n.*121A>T)
dbSNP
3g.10149891delCA432423704VHLc.*245del (n.*245del)
c.704del (n.704del)
c.679del (p.Asp227ThrfsTer12)
c.568del (p.Asp190ThrfsTer12)
c.445del (p.Asp149ThrfsTer12)
n.704del
c.*122del (n.*122del)
COSMIC
3g.10149891G>ACA351756410VHLc.*245G>A (n.*245G>A)
c.704G>A (n.704G>A)
c.679G>A (p.Asp227Asn)
c.568G>A (p.Asp190Asn)
c.445G>A (p.Asp149Asn)
n.704G>A
c.*122G>A (n.*122G>A)
dbSNP
3g.10149891G>CCA351756409VHLc.*245G>C (n.*245G>C)
c.704G>C (n.704G>C)
c.679G>C (p.Asp227His)
c.568G>C (p.Asp190His)
c.445G>C (p.Asp149His)
n.704G>C
c.*122G>C (n.*122G>C)
dbSNP
3g.10149891G>TCA351756408VHLc.*245G>T (n.*245G>T)
c.704G>T (n.704G>T)
c.679G>T (p.Asp227Tyr)
c.568G>T (p.Asp190Tyr)
c.445G>T (p.Asp149Tyr)
n.704G>T
c.*122G>T (n.*122G>T)
COSMIC
3g.10149891dupCA645529562VHLc.*245dup (n.*245dup)
c.704dup (n.704dup)
c.679dup (p.Asp227GlyfsTer?)
c.568dup (p.Asp190GlyfsTer?)
c.445dup (p.Asp149GlyfsTer?)
n.704dup
c.*122dup (n.*122dup)
COSMIC
3g.10149891_10149893dupCA891843325VHLc.*245_*247dup (n.*245_*247dup)
c.704_706dup (n.704_706dup)
c.679_681dup (p.Asp227_His228insAsp)
c.568_570dup (p.Asp190_His191insAsp)
c.445_447dup (p.Asp149_His150insAsp)
n.704_706dup
c.*122_*124dup (n.*122_*124dup)
ClinVar dbSNP
3g.10149892A>CCA351756411VHLc.*246A>C (n.*246A>C)
c.705A>C (n.705A>C)
c.680A>C (p.Asp227Ala)
c.569A>C (p.Asp190Ala)
c.446A>C (p.Asp149Ala)
n.705A>C
c.*123A>C (n.*123A>C)
3g.10149892A>GCA351756412VHLc.*246A>G (n.*246A>G)
c.705A>G (n.705A>G)
c.680A>G (p.Asp227Gly)
c.569A>G (p.Asp190Gly)
c.446A>G (p.Asp149Gly)
n.705A>G
c.*123A>G (n.*123A>G)
ClinVar dbSNP
3g.10149892A>TCA351756413VHLc.*246A>T (n.*246A>T)
c.705A>T (n.705A>T)
c.680A>T (p.Asp227Val)
c.569A>T (p.Asp190Val)
c.446A>T (p.Asp149Val)
n.705A>T
c.*123A>T (n.*123A>T)
3g.10149895_10149897delCA2702130633VHLc.*249_*251del (n.*249_*251del)
c.708_710del (n.708_710del)
c.683_685del (p.His228del)
c.572_574del (p.His191del)
c.449_451del (p.His150del)
n.708_710del
c.*126_*128del (n.*126_*128del)
dbSNP
3g.10149892_10149893insGCA432423709VHLc.*246_*247insG (n.*246_*247insG)
c.705_706insG (n.705_706insG)
c.680_681insG (p.Asp227GlufsTer?)
c.569_570insG (p.Asp190GlufsTer?)
c.446_447insG (p.Asp149GlufsTer?)
n.705_706insG
c.*123_*124insG (n.*123_*124insG)
3g.10149893C>ACA351756414VHLc.*247C>A (n.*247C>A)
c.706C>A (n.706C>A)
c.681C>A (p.Asp227Glu)
c.570C>A (p.Asp190Glu)
c.447C>A (p.Asp149Glu)
n.706C>A
c.*124C>A (n.*124C>A)
dbSNP
3g.10149893C>GCA351756415VHLc.*247C>G (n.*247C>G)
c.706C>G (n.706C>G)
c.681C>G (p.Asp227Glu)
c.570C>G (p.Asp190Glu)
c.447C>G (p.Asp149Glu)
n.706C>G
c.*124C>G (n.*124C>G)
dbSNP
3g.10149893C>TCA432423714VHLc.*247C>T (n.*247C>T)
c.706C>T (n.706C>T)
c.681C>T (p.Asp227=)
c.570C>T (p.Asp190=)
c.447C>T (p.Asp149=)
n.706C>T
c.*124C>T (n.*124C>T)
ClinVar dbSNP gnomAD v4 COSMIC
3g.10149894delCA658795182VHLc.*248del (n.*248del)
c.707del (n.707del)
c.682del (p.His228ThrfsTer11)
c.571del (p.His191ThrfsTer11)
c.448del (p.His150ThrfsTer11)
n.707del
c.*125del (n.*125del)
3g.10149894_10149898delCA645529563VHLc.*248_*252del (n.*248_*252del)
c.707_711del (n.707_711del)
c.682_686del (p.His228LysfsTer?)
c.571_575del (p.His191LysfsTer?)
c.448_452del (p.His150LysfsTer?)
n.707_711del
c.*125_*129del (n.*125_*129del)
COSMIC
3g.10149896_10149899delCA645529564VHLc.*250_*253del (n.*250_*253del)
c.709_712del (n.709_712del)
c.684_687del (p.His228GlnfsTer10)
c.573_576del (p.His191GlnfsTer10)
c.450_453del (p.His150GlnfsTer10)
n.709_712del
c.*127_*130del (n.*127_*130del)
COSMIC
3g.10149894C>ACA351756418VHLc.*248C>A (n.*248C>A)
c.707C>A (n.707C>A)
c.682C>A (p.His228Asn)
c.571C>A (p.His191Asn)
c.448C>A (p.His150Asn)
n.707C>A
c.*125C>A (n.*125C>A)
dbSNP
3g.10149894C=CA1345062718VHLc.*248C= (n.*248C=)
c.707C= (n.707C=)
c.682C= (p.His228=)
c.571C= (p.His191=)
c.448C= (p.His150=)
n.707C=
c.*125C= (n.*125C=)
3g.10149894C>GCA020495VHLc.*248C>G (n.*248C>G)
c.707C>G (n.707C>G)
c.682C>G (p.His228Asp)
c.571C>G (p.His191Asp)
c.448C>G (p.His150Asp)
n.707C>G
c.*125C>G (n.*125C>G)
ClinVar dbSNP gnomAD v4
3g.10149894C>TCA351756416VHLc.*248C>T (n.*248C>T)
c.707C>T (n.707C>T)
c.682C>T (p.His228Tyr)
c.571C>T (p.His191Tyr)
c.448C>T (p.His150Tyr)
n.707C>T
c.*125C>T (n.*125C>T)
ClinVar dbSNP gnomAD v4
3g.10149895delCA432423723VHLc.*249del (n.*249del)
c.708del (n.708del)
c.683del (p.His228ProfsTer11)
c.572del (p.His191ProfsTer11)
c.449del (p.His150ProfsTer11)
n.708del
c.*126del (n.*126del)
COSMIC
3g.10149895A=CA1345062727VHLc.*249A= (n.*249A=)
c.708A= (n.708A=)
c.683A= (p.His228=)
c.572A= (p.His191=)
c.449A= (p.His150=)
n.708A=
c.*126A= (n.*126A=)
3g.10149895A>CCA020500VHLc.*249A>C (n.*249A>C)
c.708A>C (n.708A>C)
c.683A>C (p.His228Pro)
c.572A>C (p.His191Pro)
c.449A>C (p.His150Pro)
n.708A>C
c.*126A>C (n.*126A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149895A>GCA041703VHLc.*249A>G (n.*249A>G)
c.708A>G (n.708A>G)
c.683A>G (p.His228Arg)
c.572A>G (p.His191Arg)
c.449A>G (p.His150Arg)
n.708A>G
c.*126A>G (n.*126A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149895A>TCA351756425VHLc.*249A>T (n.*249A>T)
c.708A>T (n.708A>T)
c.683A>T (p.His228Leu)
c.572A>T (p.His191Leu)
c.449A>T (p.His150Leu)
n.708A>T
c.*126A>T (n.*126A>T)
3g.10149895dupCA2573106159VHLc.*249dup (n.*249dup)
c.708dup (n.708dup)
c.683dup (p.His228GlnfsTer?)
c.572dup (p.His191GlnfsTer?)
c.449dup (p.His150GlnfsTer?)
n.708dup
c.*126dup (n.*126dup)
3g.10149896_10149900delCA645529565VHLc.*250_*254del (n.*250_*254del)
c.709_713del (n.709_713del)
c.684_688del (p.His228GlnfsTer?)
c.573_577del (p.His191GlnfsTer?)
c.450_454del (p.His150GlnfsTer?)
n.709_713del
c.*127_*131del (n.*127_*131del)
COSMIC
3g.10149896C>ACA351756428VHLc.*250C>A (n.*250C>A)
c.709C>A (n.709C>A)
c.684C>A (p.His228Gln)
c.573C>A (p.His191Gln)
c.450C>A (p.His150Gln)
n.709C>A
c.*127C>A (n.*127C>A)
dbSNP
3g.10149896C=CA1345062735VHLc.*250C= (n.*250C=)
c.709C= (n.709C=)
c.684C= (p.His228=)
c.573C= (p.His191=)
c.450C= (p.His150=)
n.709C=
c.*127C= (n.*127C=)
3g.10149896C>GCA351756431VHLc.*250C>G (n.*250C>G)
c.709C>G (n.709C>G)
c.684C>G (p.His228Gln)
c.573C>G (p.His191Gln)
c.450C>G (p.His150Gln)
n.709C>G
c.*127C>G (n.*127C>G)
dbSNP
3g.10149896C>TCA041716VHLc.*250C>T (n.*250C>T)
c.709C>T (n.709C>T)
c.684C>T (p.His228=)
c.573C>T (p.His191=)
c.450C>T (p.His150=)
n.709C>T
c.*127C>T (n.*127C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149898delCA432423729VHLc.*252del (n.*252del)
c.711del (n.711del)
c.686del (p.Pro229GlnfsTer10)
c.575del (p.Pro192GlnfsTer10)
c.452del (p.Pro151GlnfsTer10)
n.711del
c.*129del (n.*129del)
ClinVar dbSNP COSMIC
3g.10149897C>ACA351756433VHLc.*251C>A (n.*251C>A)
c.710C>A (n.710C>A)
c.685C>A (p.Pro229Thr)
c.574C>A (p.Pro192Thr)
c.451C>A (p.Pro151Thr)
n.710C>A
c.*128C>A (n.*128C>A)
ClinVar dbSNP
3g.10149897C=CA1345062743VHLc.*251C= (n.*251C=)
c.710C= (n.710C=)
c.685C= (p.Pro229=)
c.574C= (p.Pro192=)
c.451C= (p.Pro151=)
n.710C=
c.*128C= (n.*128C=)
3g.10149897C>GCA351756437VHLc.*251C>G (n.*251C>G)
c.710C>G (n.710C>G)
c.685C>G (p.Pro229Ala)
c.574C>G (p.Pro192Ala)
c.451C>G (p.Pro151Ala)
n.710C>G
c.*128C>G (n.*128C>G)
dbSNP gnomAD v2 gnomAD v4
3g.10149897C>TCA020501VHLc.*251C>T (n.*251C>T)
c.710C>T (n.710C>T)
c.685C>T (p.Pro229Ser)
c.574C>T (p.Pro192Ser)
c.451C>T (p.Pro151Ser)
n.710C>T
c.*128C>T (n.*128C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.10149899_10149915delCA645529567VHLc.*253_*269del (n.*253_*269del)
c.712_728del (n.712_728del)
c.687_703del (p.Asn230GlyfsTer?)
c.576_592del (p.Asn193GlyfsTer?)
c.453_469del (p.Asn152GlyfsTer?)
n.712_728del
c.*130_*146del (n.*130_*146del)
COSMIC
3g.10149897_10149918delCA645529566VHLc.*251_*272del (n.*251_*272del)
c.710_731del (n.710_731del)
c.685_706del (p.Pro229SerfsTer3)
c.574_595del (p.Pro192SerfsTer3)
c.451_472del (p.Pro151SerfsTer3)
n.710_731del
c.*128_*149del (n.*128_*149del)
COSMIC
3g.10149898C>ACA351756440VHLc.*252C>A (n.*252C>A)
c.711C>A (n.711C>A)
c.686C>A (p.Pro229Gln)
c.575C>A (p.Pro192Gln)
c.452C>A (p.Pro151Gln)
n.711C>A
c.*129C>A (n.*129C>A)
3g.10149898C=CA1345062756VHLc.*252C= (n.*252C=)
c.711C= (n.711C=)
c.686C= (p.Pro229=)
c.575C= (p.Pro192=)
c.452C= (p.Pro151=)
n.711C=
c.*129C= (n.*129C=)
3g.10149898C>GCA70052552VHLc.*252C>G (n.*252C>G)
c.711C>G (n.711C>G)
c.686C>G (p.Pro229Arg)
c.575C>G (p.Pro192Arg)
c.452C>G (p.Pro151Arg)
n.711C>G
c.*129C>G (n.*129C>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10149898C>TCA351756444VHLc.*252C>T (n.*252C>T)
c.711C>T (n.711C>T)
c.686C>T (p.Pro229Leu)
c.575C>T (p.Pro192Leu)
c.452C>T (p.Pro151Leu)
n.711C>T
c.*129C>T (n.*129C>T)
ClinVar dbSNP COSMIC
3g.10149899A=CA1345062763VHLc.*253A= (n.*253A=)
c.712A= (n.712A=)
c.687A= (p.Pro229=)
c.576A= (p.Pro192=)
c.453A= (p.Pro151=)
n.712A=
c.*130A= (n.*130A=)
3g.10149899A>CCA432423739VHLc.*253A>C (n.*253A>C)
c.712A>C (n.712A>C)
c.687A>C (p.Pro229=)
c.576A>C (p.Pro192=)
c.453A>C (p.Pro151=)
n.712A>C
c.*130A>C (n.*130A>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149899A>GCA432423744VHLc.*253A>G (n.*253A>G)
c.712A>G (n.712A>G)
c.687A>G (p.Pro229=)
c.576A>G (p.Pro192=)
c.453A>G (p.Pro151=)
n.712A>G
c.*130A>G (n.*130A>G)
3g.10149899A>TCA432423742VHLc.*253A>T (n.*253A>T)
c.712A>T (n.712A>T)
c.687A>T (p.Pro229=)
c.576A>T (p.Pro192=)
c.453A>T (p.Pro151=)
n.712A>T
c.*130A>T (n.*130A>T)
dbSNP
3g.10149901dupCA645529568VHLc.*255dup (n.*255dup)
c.714dup (n.714dup)
c.689dup (p.Asn230LysfsTer?)
c.578dup (p.Asn193LysfsTer?)
c.455dup (p.Asn152LysfsTer?)
n.714dup
c.*132dup (n.*132dup)
COSMIC
3g.10149901delCA432423740VHLc.*255del (n.*255del)
c.714del (n.714del)
c.689del (p.Asn230MetfsTer9)
c.578del (p.Asn193MetfsTer9)
c.455del (p.Asn152MetfsTer9)
n.714del
c.*132del (n.*132del)
COSMIC
3g.10149900A>CCA351756446VHLc.*254A>C (n.*254A>C)
c.713A>C (n.713A>C)
c.688A>C (p.Asn230His)
c.577A>C (p.Asn193His)
c.454A>C (p.Asn152His)
n.713A>C
c.*131A>C (n.*131A>C)
3g.10149900A>GCA351756447VHLc.*254A>G (n.*254A>G)
c.713A>G (n.713A>G)
c.688A>G (p.Asn230Asp)
c.577A>G (p.Asn193Asp)
c.454A>G (p.Asn152Asp)
n.713A>G
c.*131A>G (n.*131A>G)
3g.10149900A>TCA351756450VHLc.*254A>T (n.*254A>T)
c.713A>T (n.713A>T)
c.688A>T (p.Asn230Tyr)
c.577A>T (p.Asn193Tyr)
c.454A>T (p.Asn152Tyr)
n.713A>T
c.*131A>T (n.*131A>T)
dbSNP
3g.10149901A=CA1345062775VHLc.*255A= (n.*255A=)
c.714A= (n.714A=)
c.689A= (p.Asn230=)
c.578A= (p.Asn193=)
c.455A= (p.Asn152=)
n.714A=
c.*132A= (n.*132A=)
3g.10149901A>CCA351756453VHLc.*255A>C (n.*255A>C)
c.714A>C (n.714A>C)
c.689A>C (p.Asn230Thr)
c.578A>C (p.Asn193Thr)
c.455A>C (p.Asn152Thr)
n.714A>C
c.*132A>C (n.*132A>C)
3g.10149901A>GCA10584231VHLc.*255A>G (n.*255A>G)
c.714A>G (n.714A>G)
c.689A>G (p.Asn230Ser)
c.578A>G (p.Asn193Ser)
c.455A>G (p.Asn152Ser)
n.714A>G
c.*132A>G (n.*132A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10149901A>TCA351756456VHLc.*255A>T (n.*255A>T)
c.714A>T (n.714A>T)
c.689A>T (p.Asn230Ile)
c.578A>T (p.Asn193Ile)
c.455A>T (p.Asn152Ile)
n.714A>T
c.*132A>T (n.*132A>T)
dbSNP gnomAD v4
3g.10149901_10149903delinsATGCA1345062773VHLc.*255_*257delinsATG (n.*255_*257delinsATG)
c.714_716delinsATG (n.714_716delinsATG)
c.689_691delinsATG (p.Asn230=)
c.578_580delinsATG (p.Asn193=)
c.455_457delinsATG (p.Asn152=)
n.714_716delinsATG
c.*132_*134delinsATG (n.*132_*134delinsATG)
3g.10149902T>ACA16611097VHLc.*256T>A (n.*256T>A)
c.715T>A (n.715T>A)
c.690T>A (p.Asn230Lys)
c.579T>A (p.Asn193Lys)
c.456T>A (p.Asn152Lys)
n.715T>A
c.*133T>A (n.*133T>A)
ClinVar dbSNP
3g.10149902T>CCA16611070VHLc.*256T>C (n.*256T>C)
c.715T>C (n.715T>C)
c.690T>C (p.Asn230=)
c.579T>C (p.Asn193=)
c.456T>C (p.Asn152=)
n.715T>C
c.*133T>C (n.*133T>C)
ClinVar dbSNP
3g.10149902T>GCA351756460VHLc.*256T>G (n.*256T>G)
c.715T>G (n.715T>G)
c.690T>G (p.Asn230Lys)
c.579T>G (p.Asn193Lys)
c.456T>G (p.Asn152Lys)
n.715T>G
c.*133T>G (n.*133T>G)
3g.10149902T=CA1345062787VHLc.*256T= (n.*256T=)
c.715T= (n.715T=)
c.690T= (p.Asn230=)
c.579T= (p.Asn193=)
c.456T= (p.Asn152=)
n.715T=
c.*133T= (n.*133T=)
3g.10149904_10149905delCA70052556VHLc.*258_*259del (n.*258_*259del)
c.717_718del (n.717_718del)
c.692_693del (p.Val231AlafsTer?)
c.581_582del (p.Val194AlafsTer?)
c.458_459del (p.Val153AlafsTer?)
n.717_718del
c.*135_*136del (n.*135_*136del)
dbSNP COSMIC COSMIC
3g.10149902_10149903insACA432423760VHLc.*256_*257insA (n.*256_*257insA)
c.715_716insA (n.715_716insA)
c.690_691insA (p.Val231SerfsTer?)
c.579_580insA (p.Val194SerfsTer?)
c.456_457insA (p.Val153SerfsTer?)
n.715_716insA
c.*133_*134insA (n.*133_*134insA)
3g.10149903G>ACA351756469VHLc.*257G>A (n.*257G>A)
c.716G>A (n.716G>A)
c.691G>A (p.Val231Met)
c.580G>A (p.Val194Met)
c.457G>A (p.Val153Met)
n.716G>A
c.*134G>A (n.*134G>A)
ClinVar dbSNP
3g.10149903G>CCA351756466VHLc.*257G>C (n.*257G>C)
c.716G>C (n.716G>C)
c.691G>C (p.Val231Leu)
c.580G>C (p.Val194Leu)
c.457G>C (p.Val153Leu)
n.716G>C
c.*134G>C (n.*134G>C)
dbSNP
3g.10149903G=CA1345062796VHLc.*257G= (n.*257G=)
c.716G= (n.716G=)
c.691G= (p.Val231=)
c.580G= (p.Val194=)
c.457G= (p.Val153=)
n.716G=
c.*134G= (n.*134G=)
3g.10149903G>TCA351756464VHLc.*257G>T (n.*257G>T)
c.716G>T (n.716G>T)
c.691G>T (p.Val231Leu)
c.580G>T (p.Val194Leu)
c.457G>T (p.Val153Leu)
n.716G>T
c.*134G>T (n.*134G>T)
3g.10149904T>ACA351756473VHLc.*258T>A (n.*258T>A)
c.717T>A (n.717T>A)
c.692T>A (p.Val231Glu)
c.581T>A (p.Val194Glu)
c.458T>A (p.Val153Glu)
n.717T>A
c.*135T>A (n.*135T>A)
dbSNP
3g.10149904T>CCA351756478VHLc.*258T>C (n.*258T>C)
c.717T>C (n.717T>C)
c.692T>C (p.Val231Ala)
c.581T>C (p.Val194Ala)
c.458T>C (p.Val153Ala)
n.717T>C
c.*135T>C (n.*135T>C)
3g.10149904T>GCA351756475VHLc.*258T>G (n.*258T>G)
c.717T>G (n.717T>G)
c.692T>G (p.Val231Gly)
c.581T>G (p.Val194Gly)
c.458T>G (p.Val153Gly)
n.717T>G
c.*135T>G (n.*135T>G)
ClinVar dbSNP
3g.10149904T=CA1345062803VHLc.*258T= (n.*258T=)
c.717T= (n.717T=)
c.692T= (p.Val231=)
c.581T= (p.Val194=)
c.458T= (p.Val153=)
n.717T=
c.*135T= (n.*135T=)
3g.10149905G>ACA432423767VHLc.*259G>A (n.*259G>A)
c.718G>A (n.718G>A)
c.693G>A (p.Val231=)
c.582G>A (p.Val194=)
c.459G>A (p.Val153=)
n.718G>A
c.*136G>A (n.*136G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.10149905G>CCA432423771VHLc.*259G>C (n.*259G>C)
c.718G>C (n.718G>C)
c.693G>C (p.Val231=)
c.582G>C (p.Val194=)
c.459G>C (p.Val153=)
n.718G>C
c.*136G>C (n.*136G>C)
dbSNP
3g.10149905G=CA1345062807VHLc.*259G= (n.*259G=)
c.718G= (n.718G=)
c.693G= (p.Val231=)
c.582G= (p.Val194=)
c.459G= (p.Val153=)
n.718G=
c.*136G= (n.*136G=)
3g.10149905G>TCA432423769VHLc.*259G>T (n.*259G>T)
c.718G>T (n.718G>T)
c.693G>T (p.Val231=)
c.582G>T (p.Val194=)
c.459G>T (p.Val153=)
n.718G>T
c.*136G>T (n.*136G>T)
ClinVar COSMIC
3g.10149905_10149906insTCA645529569VHLc.*259_*260insT (n.*259_*260insT)
c.718_719insT (n.718_719insT)
c.693_694insT (p.Gln232SerfsTer?)
c.582_583insT (p.Gln195SerfsTer?)
c.459_460insT (p.Gln154SerfsTer?)
n.718_719insT
c.*136_*137insT (n.*136_*137insT)
COSMIC
3g.10149906C>ACA351756481VHLc.*260C>A (n.*260C>A)
c.719C>A (n.719C>A)
c.694C>A (p.Gln232Lys)
c.583C>A (p.Gln195Lys)
c.460C>A (p.Gln154Lys)
n.719C>A
c.*137C>A (n.*137C>A)
dbSNP
3g.10149906C=CA1345062814VHLc.*260C= (n.*260C=)
c.719C= (n.719C=)
c.694C= (p.Gln232=)
c.583C= (p.Gln195=)
c.460C= (p.Gln154=)
n.719C=
c.*137C= (n.*137C=)
3g.10149906C>GCA351756483VHLc.*260C>G (n.*260C>G)
c.719C>G (n.719C>G)
c.694C>G (p.Gln232Glu)
c.583C>G (p.Gln195Glu)
c.460C>G (p.Gln154Glu)
n.719C>G
c.*137C>G (n.*137C>G)
dbSNP
3g.10149906C>TCA70052558VHLc.*260C>T (n.*260C>T)
c.719C>T (n.719C>T)
c.694C>T (p.Gln232Ter)
c.583C>T (p.Gln195Ter)
c.460C>T (p.Gln154Ter)
n.719C>T
c.*137C>T (n.*137C>T)
ClinVar dbSNP COSMIC
3g.10149906_10149908delinsCAGCA1345062817VHLc.*260_*262delinsCAG (n.*260_*262delinsCAG)
c.719_721delinsCAG (n.719_721delinsCAG)
c.694_696delinsCAG (p.Gln232=)
c.583_585delinsCAG (p.Gln195=)
c.460_462delinsCAG (p.Gln154=)
n.719_721delinsCAG
c.*137_*139delinsCAG (n.*137_*139delinsCAG)
3g.10149908_10149929dupCA913190160VHLc.*262_*283dup (n.*262_*283dup)
c.721_742dup (n.721_742dup)
c.696_717dup (p.Gln240GlufsTer?)
c.585_606dup (p.Gln203GlufsTer?)
c.462_483dup (p.Gln162GlufsTer?)
n.721_742dup
c.*139_*160dup (n.*139_*160dup)
ClinVar dbSNP
3g.10149906_10149907insTCA432423779VHLc.*260_*261insT (n.*260_*261insT)
c.719_720insT (n.719_720insT)
c.694_695insT (p.Gln232LeufsTer?)
c.583_584insT (p.Gln195LeufsTer?)
c.460_461insT (p.Gln154LeufsTer?)
n.719_720insT
c.*137_*138insT (n.*137_*138insT)
3g.10149907A>CCA351756493VHLc.*261A>C (n.*261A>C)
c.720A>C (n.720A>C)
c.695A>C (p.Gln232Pro)
c.584A>C (p.Gln195Pro)
c.461A>C (p.Gln154Pro)
n.720A>C
c.*138A>C (n.*138A>C)
ClinVar gnomAD v4
3g.10149907A>GCA351756496VHLc.*261A>G (n.*261A>G)
c.720A>G (n.720A>G)
c.695A>G (p.Gln232Arg)
c.584A>G (p.Gln195Arg)
c.461A>G (p.Gln154Arg)
n.720A>G
c.*138A>G (n.*138A>G)
ClinVar COSMIC
3g.10149907A>TCA351756490VHLc.*261A>T (n.*261A>T)
c.720A>T (n.720A>T)
c.695A>T (p.Gln232Leu)
c.584A>T (p.Gln195Leu)
c.461A>T (p.Gln154Leu)
n.720A>T
c.*138A>T (n.*138A>T)
3g.10149908_10149909delCA645529570VHLc.*262_*263del (n.*262_*263del)
c.721_722del (n.721_722del)
c.696_697del (p.Lys233ArgfsTer?)
c.585_586del (p.Lys196ArgfsTer?)
c.462_463del (p.Lys155ArgfsTer?)
n.721_722del
c.*139_*140del (n.*139_*140del)
ClinVar dbSNP COSMIC
3g.10149910_10149913dupCA357099VHLc.*264_*267dup (n.*264_*267dup)
c.723_726dup (n.723_726dup)
c.698_701dup (p.Asp234GlufsTer?)
c.587_590dup (p.Asp197GlufsTer?)
c.464_467dup (p.Asp156GlufsTer?)
n.723_726dup
c.*141_*144dup (n.*141_*144dup)
ClinVar dbSNP
3g.10149908G>ACA432423787VHLc.*262G>A (n.*262G>A)
c.721G>A (n.721G>A)
c.696G>A (p.Gln232=)
c.585G>A (p.Gln195=)
c.462G>A (p.Gln154=)
n.721G>A
c.*139G>A (n.*139G>A)
dbSNP
3g.10149908G>CCA10582118VHLc.*262G>C (n.*262G>C)
c.721G>C (n.721G>C)
c.696G>C (p.Gln232His)
c.585G>C (p.Gln195His)
c.462G>C (p.Gln154His)
n.721G>C
c.*139G>C (n.*139G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149908G=CA1345062836VHLc.*262G= (n.*262G=)
c.721G= (n.721G=)
c.696G= (p.Gln232=)
c.585G= (p.Gln195=)
c.462G= (p.Gln154=)
n.721G=
c.*139G= (n.*139G=)
3g.10149908G>TCA351756499VHLc.*262G>T (n.*262G>T)
c.721G>T (n.721G>T)
c.696G>T (p.Gln232His)
c.585G>T (p.Gln195His)
c.462G>T (p.Gln154His)
n.721G>T
c.*139G>T (n.*139G>T)
3g.10149910_10149919delCA645529571VHLc.*264_*273del (n.*264_*273del)
c.723_732del (n.723_732del)
c.698_707del (p.Lys233SerfsTer3)
c.587_596del (p.Lys196SerfsTer3)
c.464_473del (p.Lys155SerfsTer3)
n.723_732del
c.*141_*150del (n.*141_*150del)
COSMIC
3g.10149909A=CA1345062847VHLc.*263A= (n.*263A=)
c.722A= (n.722A=)
c.697A= (p.Lys233=)
c.586A= (p.Lys196=)
c.463A= (p.Lys155=)
n.722A=
c.*140A= (n.*140A=)
3g.10149909A>CCA351756503VHLc.*263A>C (n.*263A>C)
c.722A>C (n.722A>C)
c.697A>C (p.Lys233Gln)
c.586A>C (p.Lys196Gln)
c.463A>C (p.Lys155Gln)
n.722A>C
c.*140A>C (n.*140A>C)
3g.10149909A>GCA16611099VHLc.*263A>G (n.*263A>G)
c.722A>G (n.722A>G)
c.697A>G (p.Lys233Glu)
c.586A>G (p.Lys196Glu)
c.463A>G (p.Lys155Glu)
n.722A>G
c.*140A>G (n.*140A>G)
ClinVar dbSNP gnomAD v4
3g.10149909A>TCA020507VHLc.*263A>T (n.*263A>T)
c.722A>T (n.722A>T)
c.697A>T (p.Lys233Ter)
c.586A>T (p.Lys196Ter)
c.463A>T (p.Lys155Ter)
n.722A>T
c.*140A>T (n.*140A>T)
ClinVar dbSNP COSMIC
3g.10149911dupCA279940VHLc.*265dup (n.*265dup)
c.724dup (n.724dup)
c.699dup (p.Asp234ArgfsTer?)
c.588dup (p.Asp197ArgfsTer?)
c.465dup (p.Asp156ArgfsTer?)
n.724dup
c.*142dup (n.*142dup)
ClinVar dbSNP
3g.10149911delCA432423790VHLc.*265del (n.*265del)
c.724del (n.724del)
c.699del (p.Asp234ThrfsTer5)
c.588del (p.Asp197ThrfsTer5)
c.465del (p.Asp156ThrfsTer5)
n.724del
c.*142del (n.*142del)
ClinVar COSMIC
3g.10149910_10149911delCA645529572VHLc.*264_*265del (n.*264_*265del)
c.723_724del (n.723_724del)
c.698_699del (p.Lys233ArgfsTer?)
c.587_588del (p.Lys196ArgfsTer?)
c.464_465del (p.Lys155ArgfsTer?)
n.723_724del
c.*141_*142del (n.*141_*142del)
COSMIC
3g.10149910A>CCA351756510VHLc.*264A>C (n.*264A>C)
c.723A>C (n.723A>C)
c.698A>C (p.Lys233Thr)
c.587A>C (p.Lys196Thr)
c.464A>C (p.Lys155Thr)
n.723A>C
c.*141A>C (n.*141A>C)
3g.10149910A>GCA351756511VHLc.*264A>G (n.*264A>G)
c.723A>G (n.723A>G)
c.698A>G (p.Lys233Arg)
c.587A>G (p.Lys196Arg)
c.464A>G (p.Lys155Arg)
n.723A>G
c.*141A>G (n.*141A>G)
3g.10149910A>TCA351756514VHLc.*264A>T (n.*264A>T)
c.723A>T (n.723A>T)
c.698A>T (p.Lys233Ile)
c.587A>T (p.Lys196Ile)
c.464A>T (p.Lys155Ile)
n.723A>T
c.*141A>T (n.*141A>T)
3g.10149910_10149916delCA645529573VHLc.*264_*270del (n.*264_*270del)
c.723_729del (n.723_729del)
c.698_704del (p.Lys233ArgfsTer4)
c.587_593del (p.Lys196ArgfsTer4)
c.464_470del (p.Lys155ArgfsTer4)
n.723_729del
c.*141_*147del (n.*141_*147del)
COSMIC
3g.10149910_10149917delCA645529574VHLc.*264_*271del (n.*264_*271del)
c.723_730del (n.723_730del)
c.698_705del (p.Lys233ArgfsTer?)
c.587_594del (p.Lys196ArgfsTer?)
c.464_471del (p.Lys155ArgfsTer?)
n.723_730del
c.*141_*148del (n.*141_*148del)
COSMIC
3g.10149911A=CA1345062856VHLc.*265A= (n.*265A=)
c.724A= (n.724A=)
c.699A= (p.Lys233=)
c.588A= (p.Lys196=)
c.465A= (p.Lys155=)
n.724A=
c.*142A= (n.*142A=)
3g.10149911A>CCA351756518VHLc.*265A>C (n.*265A>C)
c.724A>C (n.724A>C)
c.699A>C (p.Lys233Asn)
c.588A>C (p.Lys196Asn)
c.465A>C (p.Lys155Asn)
n.724A>C
c.*142A>C (n.*142A>C)
3g.10149911A>GCA70052605VHLc.*265A>G (n.*265A>G)
c.724A>G (n.724A>G)
c.699A>G (p.Lys233=)
c.588A>G (p.Lys196=)
c.465A>G (p.Lys155=)
n.724A>G
c.*142A>G (n.*142A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10149911A>TCA351756520VHLc.*265A>T (n.*265A>T)
c.724A>T (n.724A>T)
c.699A>T (p.Lys233Asn)
c.588A>T (p.Lys196Asn)
c.465A>T (p.Lys155Asn)
n.724A>T
c.*142A>T (n.*142A>T)
3g.10149912_10149913delCA645529575VHLc.*266_*267del (n.*266_*267del)
c.725_726del (n.725_726del)
c.700_701del (p.Asp234ProfsTer?)
c.589_590del (p.Asp197ProfsTer?)
c.466_467del (p.Asp156ProfsTer?)
n.725_726del
c.*143_*144del (n.*143_*144del)
COSMIC
3g.10149912delCA913189233VHLc.*266del (n.*266del)
c.725del (n.725del)
c.700del (p.Asp234ThrfsTer5)
c.589del (p.Asp197ThrfsTer5)
c.466del (p.Asp156ThrfsTer5)
n.725del
c.*143del (n.*143del)
3g.10149912G>ACA351756524VHLc.*266G>A (n.*266G>A)
c.725G>A (n.725G>A)
c.700G>A (p.Asp234Asn)
c.589G>A (p.Asp197Asn)
c.466G>A (p.Asp156Asn)
n.725G>A
c.*143G>A (n.*143G>A)
ClinVar dbSNP
3g.10149912G>CCA16617793VHLc.*266G>C (n.*266G>C)
c.725G>C (n.725G>C)
c.700G>C (p.Asp234His)
c.589G>C (p.Asp197His)
c.466G>C (p.Asp156His)
n.725G>C
c.*143G>C (n.*143G>C)
ClinVar dbSNP
3g.10149912G=CA1345062863VHLc.*266G= (n.*266G=)
c.725G= (n.725G=)
c.700G= (p.Asp234=)
c.589G= (p.Asp197=)
c.466G= (p.Asp156=)
n.725G=
c.*143G= (n.*143G=)
3g.10149912G>TCA351756526VHLc.*266G>T (n.*266G>T)
c.725G>T (n.725G>T)
c.700G>T (p.Asp234Tyr)
c.589G>T (p.Asp197Tyr)
c.466G>T (p.Asp156Tyr)
n.725G>T
c.*143G>T (n.*143G>T)
3g.10149913delCA432423804VHLc.*267del (n.*267del)
c.726del (n.726del)
c.701del (p.Asp234AlafsTer5)
c.590del (p.Asp197AlafsTer5)
c.467del (p.Asp156AlafsTer5)
n.726del
c.*144del (n.*144del)
COSMIC
3g.10149913A=CA1345062871VHLc.*267A= (n.*267A=)
c.726A= (n.726A=)
c.701A= (p.Asp234=)
c.590A= (p.Asp197=)
c.467A= (p.Asp156=)
n.726A=
c.*144A= (n.*144A=)
3g.10149913A>CCA041749VHLc.*267A>C (n.*267A>C)
c.726A>C (n.726A>C)
c.701A>C (p.Asp234Ala)
c.590A>C (p.Asp197Ala)
c.467A>C (p.Asp156Ala)
n.726A>C
c.*144A>C (n.*144A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149913A>GCA351756530VHLc.*267A>G (n.*267A>G)
c.726A>G (n.726A>G)
c.701A>G (p.Asp234Gly)
c.590A>G (p.Asp197Gly)
c.467A>G (p.Asp156Gly)
n.726A>G
c.*144A>G (n.*144A>G)
dbSNP
3g.10149913A>TCA351756533VHLc.*267A>T (n.*267A>T)
c.726A>T (n.726A>T)
c.701A>T (p.Asp234Val)
c.590A>T (p.Asp197Val)
c.467A>T (p.Asp156Val)
n.726A>T
c.*144A>T (n.*144A>T)
dbSNP
3g.10149915_10149930delCA645529576VHLc.*269_*284del (n.*269_*284del)
c.728_743del (n.728_743del)
c.703_718del (p.Leu235ArgfsTer16)
c.592_607del (p.Leu198ArgfsTer16)
c.469_484del (p.Leu157ArgfsTer16)
n.728_743del
c.*146_*161del (n.*146_*161del)
ClinVar COSMIC
3g.10149914C>ACA351756536VHLc.*268C>A (n.*268C>A)
c.727C>A (n.727C>A)
c.702C>A (p.Asp234Glu)
c.591C>A (p.Asp197Glu)
c.468C>A (p.Asp156Glu)
n.727C>A
c.*145C>A (n.*145C>A)
dbSNP
3g.10149914C=CA1345062883VHLc.*268C= (n.*268C=)
c.727C= (n.727C=)
c.702C= (p.Asp234=)
c.591C= (p.Asp197=)
c.468C= (p.Asp156=)
n.727C=
c.*145C= (n.*145C=)
3g.10149914C>GCA351756538VHLc.*268C>G (n.*268C>G)
c.727C>G (n.727C>G)
c.702C>G (p.Asp234Glu)
c.591C>G (p.Asp197Glu)
c.468C>G (p.Asp156Glu)
n.727C>G
c.*145C>G (n.*145C>G)
dbSNP
3g.10149914C>TCA432423811VHLc.*268C>T (n.*268C>T)
c.727C>T (n.727C>T)
c.702C>T (p.Asp234=)
c.591C>T (p.Asp197=)
c.468C>T (p.Asp156=)
n.727C>T
c.*145C>T (n.*145C>T)
ClinVar dbSNP
3g.10149915delCA432423813VHLc.*269del (n.*269del)
c.728del (n.728del)
c.703del (p.Leu235TrpfsTer4)
c.592del (p.Leu198TrpfsTer4)
c.469del (p.Leu157TrpfsTer4)
n.728del
c.*146del (n.*146del)
COSMIC
3g.10149915C>ACA351756540VHLc.*269C>A (n.*269C>A)
c.728C>A (n.728C>A)
c.703C>A (p.Leu235Met)
c.592C>A (p.Leu198Met)
c.469C>A (p.Leu157Met)
n.728C>A
c.*146C>A (n.*146C>A)
dbSNP
3g.10149915C=CA1345062889VHLc.*269C= (n.*269C=)
c.728C= (n.728C=)
c.703C= (p.Leu235=)
c.592C= (p.Leu198=)
c.469C= (p.Leu157=)
n.728C=
c.*146C= (n.*146C=)
3g.10149915C>GCA351756542VHLc.*269C>G (n.*269C>G)
c.728C>G (n.728C>G)
c.703C>G (p.Leu235Val)
c.592C>G (p.Leu198Val)
c.469C>G (p.Leu157Val)
n.728C>G
c.*146C>G (n.*146C>G)
ClinVar dbSNP
3g.10149915C>TCA432423817VHLc.*269C>T (n.*269C>T)
c.728C>T (n.728C>T)
c.703C>T (p.Leu235=)
c.592C>T (p.Leu198=)
c.469C>T (p.Leu157=)
n.728C>T
c.*146C>T (n.*146C>T)
ClinVar dbSNP COSMIC
3g.10149915_10149916delCA658795185VHLc.*269_*270del (n.*269_*270del)
c.728_729del (n.728_729del)
c.703_704del (p.Leu235GlyfsTer?)
c.592_593del (p.Leu198GlyfsTer?)
c.469_470del (p.Leu157GlyfsTer?)
n.728_729del
c.*146_*147del (n.*146_*147del)
3g.10149915_10149917delCA2573136194VHLc.*269_*271del (n.*269_*271del)
c.728_730del (n.728_730del)
c.703_705del (p.Leu235del)
c.592_594del (p.Leu198del)
c.469_471del (p.Leu157del)
n.728_730del
c.*146_*148del (n.*146_*148del)
ClinVar dbSNP
3g.10149916T>ACA351756548VHLc.*270T>A (n.*270T>A)
c.729T>A (n.729T>A)
c.704T>A (p.Leu235Gln)
c.593T>A (p.Leu198Gln)
c.470T>A (p.Leu157Gln)
n.729T>A
c.*147T>A (n.*147T>A)
ClinVar dbSNP
3g.10149916T>CCA357145VHLc.*270T>C (n.*270T>C)
c.729T>C (n.729T>C)
c.704T>C (p.Leu235Pro)
c.593T>C (p.Leu198Pro)
c.470T>C (p.Leu157Pro)
n.729T>C
c.*147T>C (n.*147T>C)
ClinVar dbSNP COSMIC
3g.10149916T>GCA351756545VHLc.*270T>G (n.*270T>G)
c.729T>G (n.729T>G)
c.704T>G (p.Leu235Arg)
c.593T>G (p.Leu198Arg)
c.470T>G (p.Leu157Arg)
n.729T>G
c.*147T>G (n.*147T>G)
COSMIC
3g.10149916T=CA1345062897VHLc.*270T= (n.*270T=)
c.729T= (n.729T=)
c.704T= (p.Leu235=)
c.593T= (p.Leu198=)
c.470T= (p.Leu157=)
n.729T=
c.*147T= (n.*147T=)
3g.10149916_10149917dupCA645529577VHLc.*270_*271dup (n.*270_*271dup)
c.729_730dup (n.729_730dup)
c.704_705dup (p.Glu236TrpfsTer4)
c.593_594dup (p.Glu199TrpfsTer4)
c.470_471dup (p.Glu158TrpfsTer4)
n.729_730dup
c.*147_*148dup (n.*147_*148dup)
COSMIC
3g.10149917G>ACA432423827VHLc.*271G>A (n.*271G>A)
c.730G>A (n.730G>A)
c.705G>A (p.Leu235=)
c.594G>A (p.Leu198=)
c.471G>A (p.Leu157=)
n.730G>A
c.*148G>A (n.*148G>A)
ClinVar dbSNP COSMIC
3g.10149917G>CCA432423824VHLc.*271G>C (n.*271G>C)
c.730G>C (n.730G>C)
c.705G>C (p.Leu235=)
c.594G>C (p.Leu198=)
c.471G>C (p.Leu157=)
n.730G>C
c.*148G>C (n.*148G>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10149917G=CA1345062906VHLc.*271G= (n.*271G=)
c.730G= (n.730G=)
c.705G= (p.Leu235=)
c.594G= (p.Leu198=)
c.471G= (p.Leu157=)
n.730G=
c.*148G= (n.*148G=)
3g.10149917G>TCA432423822VHLc.*271G>T (n.*271G>T)
c.730G>T (n.730G>T)
c.705G>T (p.Leu235=)
c.594G>T (p.Leu198=)
c.471G>T (p.Leu157=)
n.730G>T
c.*148G>T (n.*148G>T)
dbSNP
3g.10149918G>ACA351756551VHLc.*272G>A (n.*272G>A)
c.731G>A (n.731G>A)
c.706G>A (p.Glu236Lys)
c.595G>A (p.Glu199Lys)
c.472G>A (p.Glu158Lys)
n.731G>A
c.*149G>A (n.*149G>A)
ClinVar dbSNP
3g.10149918G>CCA351756553VHLc.*272G>C (n.*272G>C)
c.731G>C (n.731G>C)
c.706G>C (p.Glu236Gln)
c.595G>C (p.Glu199Gln)
c.472G>C (p.Glu158Gln)
n.731G>C
c.*149G>C (n.*149G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10149918G=CA1345062911VHLc.*272G= (n.*272G=)
c.731G= (n.731G=)
c.706G= (p.Glu236=)
c.595G= (p.Glu199=)
c.472G= (p.Glu158=)
n.731G=
c.*149G= (n.*149G=)
3g.10149918G>TCA351756556VHLc.*272G>T (n.*272G>T)
c.731G>T (n.731G>T)
c.706G>T (p.Glu236Ter)
c.595G>T (p.Glu199Ter)
c.472G>T (p.Glu158Ter)
n.731G>T
c.*149G>T (n.*149G>T)
COSMIC
3g.10149920_10149927delCA645529578VHLc.*274_*281del (n.*274_*281del)
c.733_740del (n.733_740del)
c.708_715del (p.Glu236AspfsTer?)
c.597_604del (p.Glu199AspfsTer?)
c.474_481del (p.Glu158AspfsTer?)
n.733_740del
c.*151_*158del (n.*151_*158del)
COSMIC
3g.10149919A=CA1345062922VHLc.*273A= (n.*273A=)
c.732A= (n.732A=)
c.707A= (p.Glu236=)
c.596A= (p.Glu199=)
c.473A= (p.Glu158=)
n.732A=
c.*150A= (n.*150A=)
3g.10149919A>CCA041760VHLc.*273A>C (n.*273A>C)
c.732A>C (n.732A>C)
c.707A>C (p.Glu236Ala)
c.596A>C (p.Glu199Ala)
c.473A>C (p.Glu158Ala)
n.732A>C
c.*150A>C (n.*150A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149919A>GCA351756560VHLc.*273A>G (n.*273A>G)
c.732A>G (n.732A>G)
c.707A>G (p.Glu236Gly)
c.596A>G (p.Glu199Gly)
c.473A>G (p.Glu158Gly)
n.732A>G
c.*150A>G (n.*150A>G)
ClinVar dbSNP gnomAD v4 COSMIC
3g.10149919A>TCA351756563VHLc.*273A>T (n.*273A>T)
c.732A>T (n.732A>T)
c.707A>T (p.Glu236Val)
c.596A>T (p.Glu199Val)
c.473A>T (p.Glu158Val)
n.732A>T
c.*150A>T (n.*150A>T)
ClinVar dbSNP
3g.10149920delCA2580614139VHLc.*274del (n.*274del)
c.733del (n.733del)
c.708del (p.Glu236AspfsTer3)
c.597del (p.Glu199AspfsTer3)
c.474del (p.Glu158AspfsTer3)
n.733del
c.*151del (n.*151del)
ClinVar
3g.10149920G>ACA432423837VHLc.*274G>A (n.*274G>A)
c.733G>A (n.733G>A)
c.708G>A (p.Glu236=)
c.597G>A (p.Glu199=)
c.474G>A (p.Glu158=)
n.733G>A
c.*151G>A (n.*151G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149920G>CCA351756565VHLc.*274G>C (n.*274G>C)
c.733G>C (n.733G>C)
c.708G>C (p.Glu236Asp)
c.597G>C (p.Glu199Asp)
c.474G>C (p.Glu158Asp)
n.733G>C
c.*151G>C (n.*151G>C)
3g.10149920G=CA1345062936VHLc.*274G= (n.*274G=)
c.733G= (n.733G=)
c.708G= (p.Glu236=)
c.597G= (p.Glu199=)
c.474G= (p.Glu158=)
n.733G=
c.*151G= (n.*151G=)
3g.10149920G>TCA351756567VHLc.*274G>T (n.*274G>T)
c.733G>T (n.733G>T)
c.708G>T (p.Glu236Asp)
c.597G>T (p.Glu199Asp)
c.474G>T (p.Glu158Asp)
n.733G>T
c.*151G>T (n.*151G>T)
3g.10149920_10149921insACA432423842VHLc.*274_*275insA (n.*274_*275insA)
c.733_734insA (n.733_734insA)
c.708_709insA (p.Arg237ThrfsTer?)
c.597_598insA (p.Arg200ThrfsTer?)
c.474_475insA (p.Arg159ThrfsTer?)
n.733_734insA
c.*151_*152insA (n.*151_*152insA)
3g.10149921delCA645529579VHLc.*275del (n.*275del)
c.734del (n.734del)
c.709del (p.Arg237GlyfsTer2)
c.598del (p.Arg200GlyfsTer2)
c.475del (p.Arg159GlyfsTer2)
n.734del
c.*152del (n.*152del)
COSMIC
3g.10149921C>ACA432423844VHLc.*275C>A (n.*275C>A)
c.734C>A (n.734C>A)
c.709C>A (p.Arg237=)
c.598C>A (p.Arg200=)
c.475C>A (p.Arg159=)
n.734C>A
c.*152C>A (n.*152C>A)
dbSNP
3g.10149921C=CA1345062941VHLc.*275C= (n.*275C=)
c.734C= (n.734C=)
c.709C= (p.Arg237=)
c.598C= (p.Arg200=)
c.475C= (p.Arg159=)
n.734C=
c.*152C= (n.*152C=)
3g.10149921C>GCA351756569VHLc.*275C>G (n.*275C>G)
c.734C>G (n.734C>G)
c.709C>G (p.Arg237Gly)
c.598C>G (p.Arg200Gly)
c.475C>G (p.Arg159Gly)
n.734C>G
c.*152C>G (n.*152C>G)
dbSNP
3g.10149921C>TCA020510VHLc.*275C>T (n.*275C>T)
c.734C>T (n.734C>T)
c.709C>T (p.Arg237Trp)
c.598C>T (p.Arg200Trp)
c.475C>T (p.Arg159Trp)
n.734C>T
c.*152C>T (n.*152C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.10149922G>ACA041791VHLc.*276G>A (n.*276G>A)
c.735G>A (n.735G>A)
c.710G>A (p.Arg237Gln)
c.599G>A (p.Arg200Gln)
c.476G>A (p.Arg159Gln)
n.735G>A
c.*153G>A (n.*153G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149922G>CCA351756574VHLc.*276G>C (n.*276G>C)
c.735G>C (n.735G>C)
c.710G>C (p.Arg237Pro)
c.599G>C (p.Arg200Pro)
c.476G>C (p.Arg159Pro)
n.735G>C
c.*153G>C (n.*153G>C)
dbSNP
3g.10149922G=CA1345062955VHLc.*276G= (n.*276G=)
c.735G= (n.735G=)
c.710G= (p.Arg237=)
c.599G= (p.Arg200=)
c.476G= (p.Arg159=)
n.735G=
c.*153G= (n.*153G=)
3g.10149922G>TCA041814VHLc.*276G>T (n.*276G>T)
c.735G>T (n.735G>T)
c.710G>T (p.Arg237Leu)
c.599G>T (p.Arg200Leu)
c.476G>T (p.Arg159Leu)
n.735G>T
c.*153G>T (n.*153G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149923G>ACA432423852VHLc.*277G>A (n.*277G>A)
c.736G>A (n.736G>A)
c.711G>A (p.Arg237=)
c.600G>A (p.Arg200=)
c.477G>A (p.Arg159=)
n.736G>A
c.*154G>A (n.*154G>A)
dbSNP
3g.10149923G>CCA432423849VHLc.*277G>C (n.*277G>C)
c.736G>C (n.736G>C)
c.711G>C (p.Arg237=)
c.600G>C (p.Arg200=)
c.477G>C (p.Arg159=)
n.736G>C
c.*154G>C (n.*154G>C)
dbSNP
3g.10149923G>TCA432423850VHLc.*277G>T (n.*277G>T)
c.736G>T (n.736G>T)
c.711G>T (p.Arg237=)
c.600G>T (p.Arg200=)
c.477G>T (p.Arg159=)
n.736G>T
c.*154G>T (n.*154G>T)
dbSNP
3g.10149924C>ACA351756583VHLc.*278C>A (n.*278C>A)
c.737C>A (n.737C>A)
c.712C>A (p.Leu238Met)
c.601C>A (p.Leu201Met)
c.478C>A (p.Leu160Met)
n.737C>A
c.*155C>A (n.*155C>A)
dbSNP
3g.10149924C=CA1345062959VHLc.*278C= (n.*278C=)
c.737C= (n.737C=)
c.712C= (p.Leu238=)
c.601C= (p.Leu201=)
c.478C= (p.Leu160=)
n.737C=
c.*155C= (n.*155C=)
3g.10149924C>GCA351756579VHLc.*278C>G (n.*278C>G)
c.737C>G (n.737C>G)
c.712C>G (p.Leu238Val)
c.601C>G (p.Leu201Val)
c.478C>G (p.Leu160Val)
n.737C>G
c.*155C>G (n.*155C>G)
dbSNP
3g.10149924C>TCA020522VHLc.*278C>T (n.*278C>T)
c.737C>T (n.737C>T)
c.712C>T (p.Leu238=)
c.601C>T (p.Leu201=)
c.478C>T (p.Leu160=)
n.737C>T
c.*155C>T (n.*155C>T)
ClinVar dbSNP gnomAD v4
3g.10149925T>ACA351756587VHLc.*279T>A (n.*279T>A)
c.738T>A (n.738T>A)
c.713T>A (p.Leu238Gln)
c.602T>A (p.Leu201Gln)
c.479T>A (p.Leu160Gln)
n.738T>A
c.*156T>A (n.*156T>A)
dbSNP
3g.10149925T>CCA351756590VHLc.*279T>C (n.*279T>C)
c.738T>C (n.738T>C)
c.713T>C (p.Leu238Pro)
c.602T>C (p.Leu201Pro)
c.479T>C (p.Leu160Pro)
n.738T>C
c.*156T>C (n.*156T>C)
ClinVar dbSNP COSMIC
3g.10149925T>GCA351756592VHLc.*279T>G (n.*279T>G)
c.738T>G (n.738T>G)
c.713T>G (p.Leu238Arg)
c.602T>G (p.Leu201Arg)
c.479T>G (p.Leu160Arg)
n.738T>G
c.*156T>G (n.*156T>G)
3g.10149925dupCA645529581VHLc.*279dup (n.*279dup)
c.738dup (n.738dup)
c.713dup (p.Thr239AspfsTer?)
c.602dup (p.Thr202AspfsTer?)
c.479dup (p.Thr161AspfsTer?)
n.738dup
c.*156dup (n.*156dup)
COSMIC
3g.10149926G>ACA432423862VHLc.*280G>A (n.*280G>A)
c.739G>A (n.739G>A)
c.714G>A (p.Leu238=)
c.603G>A (p.Leu201=)
c.480G>A (p.Leu160=)
n.739G>A
c.*157G>A (n.*157G>A)
dbSNP
3g.10149926G>CCA432423864VHLc.*280G>C (n.*280G>C)
c.739G>C (n.739G>C)
c.714G>C (p.Leu238=)
c.603G>C (p.Leu201=)
c.480G>C (p.Leu160=)
n.739G>C
c.*157G>C (n.*157G>C)
ClinVar dbSNP
3g.10149926G=CA1345062962VHLc.*280G= (n.*280G=)
c.739G= (n.739G=)
c.714G= (p.Leu238=)
c.603G= (p.Leu201=)
c.480G= (p.Leu160=)
n.739G=
c.*157G= (n.*157G=)
3g.10149926G>TCA432423866VHLc.*280G>T (n.*280G>T)
c.739G>T (n.739G>T)
c.714G>T (p.Leu238=)
c.603G>T (p.Leu201=)
c.480G>T (p.Leu160=)
n.739G>T
c.*157G>T (n.*157G>T)
3g.10149926_10149927insTCA432423869VHLc.*280_*281insT (n.*280_*281insT)
c.739_740insT (n.739_740insT)
c.714_715insT (p.Thr239TyrfsTer?)
c.603_604insT (p.Thr202TyrfsTer?)
c.480_481insT (p.Thr161TyrfsTer?)
n.739_740insT
c.*157_*158insT (n.*157_*158insT)
3g.10149927A>CCA351756595VHLc.*281A>C (n.*281A>C)
c.740A>C (n.740A>C)
c.715A>C (p.Thr239Pro)
c.604A>C (p.Thr202Pro)
c.481A>C (p.Thr161Pro)
n.740A>C
c.*158A>C (n.*158A>C)
dbSNP
3g.10149927A>GCA351756598VHLc.*281A>G (n.*281A>G)
c.740A>G (n.740A>G)
c.715A>G (p.Thr239Ala)
c.604A>G (p.Thr202Ala)
c.481A>G (p.Thr161Ala)
n.740A>G
c.*158A>G (n.*158A>G)
dbSNP
3g.10149927A>TCA351756601VHLc.*281A>T (n.*281A>T)
c.740A>T (n.740A>T)
c.715A>T (p.Thr239Ser)
c.604A>T (p.Thr202Ser)
c.481A>T (p.Thr161Ser)
n.740A>T
c.*158A>T (n.*158A>T)
dbSNP
3g.10149927_10149931delCA645529583VHLc.*281_*285del (n.*281_*285del)
c.740_744del (n.740_744del)
c.715_719del (p.Thr239GlyfsTer?)
c.604_608del (p.Thr202GlyfsTer?)
c.481_485del (p.Thr161GlyfsTer?)
n.740_744del
c.*158_*162del (n.*158_*162del)
COSMIC
3g.10149930_10149931delCA645529582VHLc.*284_*285del (n.*284_*285del)
c.743_744del (n.743_744del)
c.718_719del (p.Gln240GlyfsTer?)
c.607_608del (p.Gln203GlyfsTer?)
c.484_485del (p.Gln162GlyfsTer?)
n.743_744del
c.*161_*162del (n.*161_*162del)
ClinVar COSMIC COSMIC
3g.10149930_10149946delCA2740090906VHLc.*284_*300del (n.*284_*300del)
c.743_759del (n.743_759del)
c.718_734del (p.Gln240SerfsTer?)
c.607_623del (p.Gln203SerfsTer?)
c.484_500del (p.Gln162SerfsTer?)
n.743_759del
c.*161_*177del (n.*161_*177del)
ClinVar
3g.10149928C>ACA351756604VHLc.*282C>A (n.*282C>A)
c.741C>A (n.741C>A)
c.716C>A (p.Thr239Lys)
c.605C>A (p.Thr202Lys)
c.482C>A (p.Thr161Lys)
n.741C>A
c.*159C>A (n.*159C>A)
3g.10149928C=CA1345062967VHLc.*282C= (n.*282C=)
c.741C= (n.741C=)
c.716C= (p.Thr239=)
c.605C= (p.Thr202=)
c.482C= (p.Thr161=)
n.741C=
c.*159C= (n.*159C=)
3g.10149928C>GCA351756606VHLc.*282C>G (n.*282C>G)
c.741C>G (n.741C>G)
c.716C>G (p.Thr239Arg)
c.605C>G (p.Thr202Arg)
c.482C>G (p.Thr161Arg)
n.741C>G
c.*159C>G (n.*159C>G)
dbSNP
3g.10149928C>TCA041863VHLc.*282C>T (n.*282C>T)
c.741C>T (n.741C>T)
c.716C>T (p.Thr239Ile)
c.605C>T (p.Thr202Ile)
c.482C>T (p.Thr161Ile)
n.741C>T
c.*159C>T (n.*159C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149929A=CA1345062983VHLc.*283A= (n.*283A=)
c.742A= (n.742A=)
c.717A= (p.Thr239=)
c.606A= (p.Thr202=)
c.483A= (p.Thr161=)
n.742A=
c.*160A= (n.*160A=)
3g.10149929A>CCA432423876VHLc.*283A>C (n.*283A>C)
c.742A>C (n.742A>C)
c.717A>C (p.Thr239=)
c.606A>C (p.Thr202=)
c.483A>C (p.Thr161=)
n.742A>C
c.*160A>C (n.*160A>C)
ClinVar dbSNP gnomAD v4
3g.10149929A>GCA432423878VHLc.*283A>G (n.*283A>G)
c.742A>G (n.742A>G)
c.717A>G (p.Thr239=)
c.606A>G (p.Thr202=)
c.483A>G (p.Thr161=)
n.742A>G
c.*160A>G (n.*160A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10149929A>TCA432423880VHLc.*283A>T (n.*283A>T)
c.742A>T (n.742A>T)
c.717A>T (p.Thr239=)
c.606A>T (p.Thr202=)
c.483A>T (p.Thr161=)
n.742A>T
c.*160A>T (n.*160A>T)
3g.10149929dupCA1139655766VHLc.*283dup (n.*283dup)
c.742dup (n.742dup)
c.717dup (p.Gln240ThrfsTer?)
c.606dup (p.Gln203ThrfsTer?)
c.483dup (p.Gln162ThrfsTer?)
n.742dup
c.*160dup (n.*160dup)
ClinVar dbSNP
3g.10149929_10149930insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCA2664400080VHLc.*283_*284insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.*283_*284insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG)
c.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG)
c.717_718insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln240SerfsTer10)
c.606_607insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln203SerfsTer10)
c.483_484insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln162SerfsTer10)
n.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG
c.*160_*161insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.*160_*161insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG)
gnomAD v4
3g.10149930delCA432423884VHLc.*284del (n.*284del)
c.743del (n.743del)
c.718del (p.Gln240ArgfsTer16)
c.607del (p.Gln203ArgfsTer16)
c.484del (p.Gln162ArgfsTer16)
n.743del
c.*161del (n.*161del)
COSMIC
3g.10149930C>ACA351756610VHLc.*284C>A (n.*284C>A)
c.743C>A (n.743C>A)
c.718C>A (p.Gln240Lys)
c.607C>A (p.Gln203Lys)
c.484C>A (p.Gln162Lys)
n.743C>A
c.*161C>A (n.*161C>A)
ClinVar dbSNP gnomAD v4
3g.10149930C=CA1345062987VHLc.*284C= (n.*284C=)
c.743C= (n.743C=)
c.718C= (p.Gln240=)
c.607C= (p.Gln203=)
c.484C= (p.Gln162=)
n.743C=
c.*161C= (n.*161C=)
3g.10149930C>GCA351756612VHLc.*284C>G (n.*284C>G)
c.743C>G (n.743C>G)
c.718C>G (p.Gln240Glu)
c.607C>G (p.Gln203Glu)
c.484C>G (p.Gln162Glu)
n.743C>G
c.*161C>G (n.*161C>G)
dbSNP
3g.10149930C>TCA041878VHLc.*284C>T (n.*284C>T)
c.743C>T (n.743C>T)
c.718C>T (p.Gln240Ter)
c.607C>T (p.Gln203Ter)
c.484C>T (p.Gln162Ter)
n.743C>T
c.*161C>T (n.*161C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149932_10149939delCA645529585VHLc.*286_*293del (n.*286_*293del)
c.745_752del (n.745_752del)
c.720_727del (p.Gln240HisfsTer?)
c.609_616del (p.Gln203HisfsTer?)
c.486_493del (p.Gln162HisfsTer?)
n.745_752del
c.*163_*170del (n.*163_*170del)
COSMIC
3g.10149931A=CA1345062993VHLc.*285A= (n.*285A=)
c.744A= (n.744A=)
c.719A= (p.Gln240=)
c.608A= (p.Gln203=)
c.485A= (p.Gln162=)
n.744A=
c.*162A= (n.*162A=)
3g.10149931A>CCA351756622VHLc.*285A>C (n.*285A>C)
c.744A>C (n.744A>C)
c.719A>C (p.Gln240Pro)
c.608A>C (p.Gln203Pro)
c.485A>C (p.Gln162Pro)
n.744A>C
c.*162A>C (n.*162A>C)
3g.10149931A>GCA351756617VHLc.*285A>G (n.*285A>G)
c.744A>G (n.744A>G)
c.719A>G (p.Gln240Arg)
c.608A>G (p.Gln203Arg)
c.485A>G (p.Gln162Arg)
n.744A>G
c.*162A>G (n.*162A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10149931A>TCA351756619VHLc.*285A>T (n.*285A>T)
c.744A>T (n.744A>T)
c.719A>T (p.Gln240Leu)
c.608A>T (p.Gln203Leu)
c.485A>T (p.Gln162Leu)
n.744A>T
c.*162A>T (n.*162A>T)
dbSNP
3g.10149932G>ACA432423893VHLc.*286G>A (n.*286G>A)
c.745G>A (n.745G>A)
c.720G>A (p.Gln240=)
c.609G>A (p.Gln203=)
c.486G>A (p.Gln162=)
n.745G>A
c.*163G>A (n.*163G>A)
ClinVar dbSNP
3g.10149932G>CCA351756626VHLc.*286G>C (n.*286G>C)
c.745G>C (n.745G>C)
c.720G>C (p.Gln240His)
c.609G>C (p.Gln203His)
c.486G>C (p.Gln162His)
n.745G>C
c.*163G>C (n.*163G>C)
dbSNP
3g.10149932G>TCA351756627VHLc.*286G>T (n.*286G>T)
c.745G>T (n.745G>T)
c.720G>T (p.Gln240His)
c.609G>T (p.Gln203His)
c.486G>T (p.Gln162His)
n.745G>T
c.*163G>T (n.*163G>T)
dbSNP
3g.10149933delCA2664400081VHLc.*287del (n.*287del)
c.746del (n.746del)
c.721del (p.Glu241SerfsTer15)
c.610del (p.Glu204SerfsTer15)
c.487del (p.Glu163SerfsTer15)
n.746del
c.*164del (n.*164del)
gnomAD v4
3g.10149933G>ACA351756630VHLc.*287G>A (n.*287G>A)
c.746G>A (n.746G>A)
c.721G>A (p.Glu241Lys)
c.610G>A (p.Glu204Lys)
c.487G>A (p.Glu163Lys)
n.746G>A
c.*164G>A (n.*164G>A)
dbSNP COSMIC
3g.10149933G>CCA041897VHLc.*287G>C (n.*287G>C)
c.746G>C (n.746G>C)
c.721G>C (p.Glu241Gln)
c.610G>C (p.Glu204Gln)
c.487G>C (p.Glu163Gln)
n.746G>C
c.*164G>C (n.*164G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149933G=CA1345062998VHLc.*287G= (n.*287G=)
c.746G= (n.746G=)
c.721G= (p.Glu241=)
c.610G= (p.Glu204=)
c.487G= (p.Glu163=)
n.746G=
c.*164G= (n.*164G=)
3g.10149933G>TCA041909VHLc.*287G>T (n.*287G>T)
c.746G>T (n.746G>T)
c.721G>T (p.Glu241Ter)
c.610G>T (p.Glu204Ter)
c.487G>T (p.Glu163Ter)
n.746G>T
c.*164G>T (n.*164G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.10149934A>CCA351756637VHLc.*288A>C (n.*288A>C)
c.747A>C (n.747A>C)
c.722A>C (p.Glu241Ala)
c.611A>C (p.Glu204Ala)
c.488A>C (p.Glu163Ala)
n.747A>C
c.*165A>C (n.*165A>C)
3g.10149934A>GCA351756641VHLc.*288A>G (n.*288A>G)
c.747A>G (n.747A>G)
c.722A>G (p.Glu241Gly)
c.611A>G (p.Glu204Gly)
c.488A>G (p.Glu163Gly)
n.747A>G
c.*165A>G (n.*165A>G)
dbSNP
3g.10149934A>TCA351756639VHLc.*288A>T (n.*288A>T)
c.747A>T (n.747A>T)
c.722A>T (p.Glu241Val)
c.611A>T (p.Glu204Val)
c.488A>T (p.Glu163Val)
n.747A>T
c.*165A>T (n.*165A>T)
dbSNP
3g.10149934_10149936delinsAGCCA1345063008VHLc.*288_*290delinsAGC (n.*288_*290delinsAGC)
c.747_749delinsAGC (n.747_749delinsAGC)
c.722_724delinsAGC (p.Glu241=)
c.611_613delinsAGC (p.Glu204=)
c.488_490delinsAGC (p.Glu163=)
n.747_749delinsAGC
c.*165_*167delinsAGC (n.*165_*167delinsAGC)
3g.10149935G>ACA041926VHLc.*289G>A (n.*289G>A)
c.748G>A (n.748G>A)
c.723G>A (p.Glu241=)
c.612G>A (p.Glu204=)
c.489G>A (p.Glu163=)
n.748G>A
c.*166G>A (n.*166G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10149935G>CCA351756649VHLc.*289G>C (n.*289G>C)
c.748G>C (n.748G>C)
c.723G>C (p.Glu241Asp)
c.612G>C (p.Glu204Asp)
c.489G>C (p.Glu163Asp)
n.748G>C
c.*166G>C (n.*166G>C)
dbSNP gnomAD v4
3g.10149935G=CA1345063016VHLc.*289G= (n.*289G=)
c.748G= (n.748G=)
c.723G= (p.Glu241=)
c.612G= (p.Glu204=)
c.489G= (p.Glu163=)
n.748G=
c.*166G= (n.*166G=)
3g.10149935G>TCA351756647VHLc.*289G>T (n.*289G>T)
c.748G>T (n.748G>T)
c.723G>T (p.Glu241Asp)
c.612G>T (p.Glu204Asp)
c.489G>T (p.Glu163Asp)
n.748G>T
c.*166G>T (n.*166G>T)
COSMIC
3g.10149937_10149938delCA020525VHLc.*291_*292del (n.*291_*292del)
c.750_751del (n.750_751del)
c.725_726del (p.Arg242HisfsTer?)
c.614_615del (p.Arg205HisfsTer?)
c.491_492del (p.Arg164HisfsTer?)
n.750_751del
c.*168_*169del (n.*168_*169del)
ClinVar dbSNP COSMIC
3g.10149936C>ACA351756652VHLc.*290C>A (n.*290C>A)
c.749C>A (n.749C>A)
c.724C>A (p.Arg242Ser)
c.613C>A (p.Arg205Ser)
c.490C>A (p.Arg164Ser)
n.749C>A
c.*167C>A (n.*167C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.10149936C=CA1345063023VHLc.*290C= (n.*290C=)
c.749C= (n.749C=)
c.724C= (p.Arg242=)
c.613C= (p.Arg205=)
c.490C= (p.Arg164=)
n.749C=
c.*167C= (n.*167C=)
3g.10149936C>GCA351756654VHLc.*290C>G (n.*290C>G)
c.749C>G (n.749C>G)
c.724C>G (p.Arg242Gly)
c.613C>G (p.Arg205Gly)
c.490C>G (p.Arg164Gly)
n.749C>G
c.*167C>G (n.*167C>G)
ClinVar dbSNP gnomAD v4
3g.10149936C>TCA041940VHLc.*290C>T (n.*290C>T)
c.749C>T (n.749C>T)
c.724C>T (p.Arg242Cys)
c.613C>T (p.Arg205Cys)
c.490C>T (p.Arg164Cys)
n.749C>T
c.*167C>T (n.*167C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched