Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.16992990_16993003delinsCTTGGGTCATTATTCA1767395891FGF20c.*69_*82delinsAATAATGACCCAAG (n.*69_*82delinsAATAATGACCCAAG)
c.409_422delinsAATAATGACCCAAG
8g.16992991T>CCA580052677FGF20c.*81A>G (n.*81A>G)
c.421A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16992991T=CA1767395894FGF20c.*81A= (n.*81A=)
c.421A=
8g.16992993_16993005delCA1767395893FGF20c.*69_*81del (n.*69_*81del)
c.409_421del
dbSNP
8g.16992992T>CCA2779224018FGF20c.*80A>G (n.*80A>G)
c.420A>G
8g.16992992_16992993delinsTGCA1767395896FGF20c.*79_*80delinsCA (n.*79_*80delinsCA)
c.419_420delinsCA
8g.16992993G>ACA2686252506FGF20c.*79C>T (n.*79C>T)
c.419C>T
gnomAD v4
8g.16992993G>TCA2686252507FGF20c.*79C>A (n.*79C>A)
c.419C>A
gnomAD v4
8g.16992995delCA1767395897FGF20c.*79del (n.*79del)
c.419del
dbSNP
8g.16992993_16993001dupCA2686252505FGF20c.*71_*79dup (n.*71_*79dup)
c.411_419dup
gnomAD v4
8g.16992994G>ACA2686252509FGF20c.*78C>T (n.*78C>T)
c.418C>T
gnomAD v4
8g.16992994G>CCA2686252510FGF20c.*78C>G (n.*78C>G)
c.418C>G
gnomAD v4
8g.16992994G>TCA2686252508FGF20c.*78C>A (n.*78C>A)
c.418C>A
gnomAD v4
8g.16992995G>ACA2514330847FGF20c.*77C>T (n.*77C>T)
c.417C>T
8g.16992995G>CCA2579098523FGF20c.*77C>G (n.*77C>G)
c.417C>G
gnomAD v4
8g.16992995G>TCA2579098524FGF20c.*77C>A (n.*77C>A)
c.417C>A
gnomAD v4
8g.16992996T>CCA2686252511FGF20c.*76A>G (n.*76A>G)
c.416A>G
gnomAD v4
8g.16992996T>GCA2686252512FGF20c.*76A>C (n.*76A>C)
c.416A>C
gnomAD v4
8g.16992997C>ACA2686252513FGF20c.*75G>T (n.*75G>T)
c.415G>T
gnomAD v4
8g.16992997C>TCA2547440714FGF20c.*75G>A (n.*75G>A)
c.415G>A
gnomAD v4
8g.16992998A>CCA2686252514FGF20c.*74T>G (n.*74T>G)
c.414T>G
gnomAD v4
8g.16992998A>TCA2686252515FGF20c.*74T>A (n.*74T>A)
c.414T>A
gnomAD v4
8g.16992998_16992999insCACCA1111331330FGF20c.*73_*74insGTG (n.*73_*74insGTG)
c.413_414insGTG
gnomAD v3 gnomAD v4
8g.16992999_16993000insCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCA1111331331FGF20c.*72_*73insCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGACATCGTGCCACTGCACTCCAGCCTGGGCAACAG (n.*72_*73insCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGACATCGTGCCACTGCACTCCAGCCTGGGCAACAG)
c.412_413insCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGACATCGTGCCACTGCACTCCAGCCTGGGCAACAG
gnomAD v3 gnomAD v4
8g.16993000T>CCA2686252516FGF20c.*72A>G (n.*72A>G)
c.412A>G
gnomAD v4
8g.16993000T>GCA2543913759FGF20c.*72A>C (n.*72A>C)
c.412A>C
dbSNP
8g.16993001A>CCA2779224019FGF20c.*71T>G (n.*71T>G)
c.411T>G
8g.16993002T>CCA1767395900FGF20c.*70A>G (n.*70A>G)
c.410A>G
dbSNP
8g.16993002T=CA1767395899FGF20c.*70A= (n.*70A=)
c.410A=
8g.16993003T>ACA1767395903FGF20c.*69A>T (n.*69A>T)
c.409A>T
dbSNP gnomAD v4
8g.16993003T=CA1767395901FGF20c.*69A= (n.*69A=)
c.409A=
8g.16993005T>CCA2686252517FGF20c.*67A>G (n.*67A>G)
c.407A>G
gnomAD v4
8g.16993006A=CA1767395904FGF20c.*66T= (n.*66T=)
c.406T=
8g.16993006A>CCA1767395908FGF20c.*66T>G (n.*66T>G)
c.406T>G
dbSNP gnomAD v4
8g.16993006A>GCA849280179FGF20c.*66T>C (n.*66T>C)
c.406T>C
dbSNP gnomAD v4
8g.16993006A>TCA2686252518FGF20c.*66T>A (n.*66T>A)
c.406T>A
gnomAD v4
8g.16993007T>CCA2686252519FGF20c.*65A>G (n.*65A>G)
c.405A>G
gnomAD v4
8g.16993008G>ACA849280180FGF20c.*64C>T (n.*64C>T)
c.404C>T
dbSNP gnomAD v3 gnomAD v4
8g.16993008G>CCA1767395913FGF20c.*64C>G (n.*64C>G)
c.404C>G
dbSNP
8g.16993008G=CA1767395911FGF20c.*64C= (n.*64C=)
c.404C=
8g.16993008G>TCA2686252520FGF20c.*64C>A (n.*64C>A)
c.404C>A
gnomAD v4
8g.16993009A>GCA2686252521FGF20c.*63T>C (n.*63T>C)
c.403T>C
gnomAD v4
8g.16993010T>ACA1767395915FGF20c.*62A>T (n.*62A>T)
c.402A>T
dbSNP
8g.16993010T>CCA2543684971FGF20c.*62A>G (n.*62A>G)
c.402A>G
gnomAD v4
8g.16993010T=CA1767395914FGF20c.*62A= (n.*62A=)
c.402A=
8g.16993011G>ACA2534304630FGF20c.*61C>T (n.*61C>T)
c.401C>T
gnomAD v4
8g.16993011G>TCA2686252523FGF20c.*61C>A (n.*61C>A)
c.401C>A
gnomAD v4
8g.16993013delCA2686252522FGF20c.*61del (n.*61del)
c.401del
gnomAD v4
8g.16993012G>ACA1111331332FGF20c.*60C>T (n.*60C>T)
c.400C>T
dbSNP gnomAD v4
8g.16993012G=CA1767395917FGF20c.*60C= (n.*60C=)
c.400C=
8g.16993012G>TCA2686252524FGF20c.*60C>A (n.*60C>A)
c.400C>A
gnomAD v4
8g.16993013G>ACA2686252525FGF20c.*59C>T (n.*59C>T)
c.399C>T
gnomAD v4
8g.16993013G>TCA2686252526FGF20c.*59C>A (n.*59C>A)
c.399C>A
gnomAD v4
8g.16993014A>GCA2686252527FGF20c.*58T>C (n.*58T>C)
c.398T>C
gnomAD v4
8g.16993015A>TCA2686252528FGF20c.*57T>A (n.*57T>A)
c.397T>A
gnomAD v4
8g.16993016C>ACA2686252529FGF20c.*56G>T (n.*56G>T)
c.396G>T
gnomAD v4
8g.16993016C>TCA2686252530FGF20c.*56G>A (n.*56G>A)
c.396G>A
gnomAD v4
8g.16993017T>CCA1767395921FGF20c.*55A>G (n.*55A>G)
c.395A>G
dbSNP
8g.16993017T=CA1767395920FGF20c.*55A= (n.*55A=)
c.395A=
8g.16993018A>GCA2500082141FGF20c.*54T>C (n.*54T>C)
c.394T>C
8g.16993019T>ACA2686252531FGF20c.*53A>T (n.*53A>T)
c.393A>T
gnomAD v4
8g.16993019T>CCA172903889FGF20c.*53A>G (n.*53A>G)
c.393A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993019T>GCA2716382842FGF20c.*53A>C (n.*53A>C)
c.393A>C
dbSNP
8g.16993019T=CA1767395922FGF20c.*53A= (n.*53A=)
c.393A=
8g.16993020G>ACA580052680FGF20c.*52C>T (n.*52C>T)
c.392C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993020G>CCA172903898FGF20c.*52C>G (n.*52C>G)
c.392C>G
dbSNP gnomAD v3 gnomAD v4
8g.16993020G=CA1767395926FGF20c.*52C= (n.*52C=)
c.392C=
8g.16993020G>TCA849280189FGF20c.*52C>A (n.*52C>A)
c.392C>A
dbSNP gnomAD v4
8g.16993021A=CA1767395929FGF20c.*51T= (n.*51T=)
c.391T=
8g.16993021A>GCA849280197FGF20c.*51T>C (n.*51T>C)
c.391T>C
dbSNP gnomAD v3 gnomAD v4
8g.16993022C>ACA2686252532FGF20c.*50G>T (n.*50G>T)
c.390G>T
gnomAD v4
8g.16993022C=CA1767395931FGF20c.*50G= (n.*50G=)
c.390G=
8g.16993022C>GCA4641521FGF20c.*50G>C (n.*50G>C)
c.390G>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993022C>TCA2558593412FGF20c.*50G>A (n.*50G>A)
c.390G>A
dbSNP gnomAD v4
8g.16993024A=CA1767395933FGF20c.*48T= (n.*48T=)
c.388T=
8g.16993024A>GCA172903908FGF20c.*48T>C (n.*48T>C)
c.388T>C
dbSNP gnomAD v3 gnomAD v4
8g.16993025G=CA1767395936FGF20c.*47C= (n.*47C=)
c.387C=
8g.16993025G>TCA4641522FGF20c.*47C>A (n.*47C>A)
c.387C>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993026A>GCA1111331333FGF20c.*46T>C (n.*46T>C)
c.386T>C
gnomAD v3 gnomAD v4
8g.16993027A>GCA2686252533FGF20c.*45T>C (n.*45T>C)
c.385T>C
gnomAD v4
8g.16993029G>ACA1767395938FGF20c.*43C>T (n.*43C>T)
c.383C>T
dbSNP
8g.16993029G>CCA2686252534FGF20c.*43C>G (n.*43C>G)
c.383C>G
gnomAD v4
8g.16993029G=CA1767395937FGF20c.*43C= (n.*43C=)
c.383C=
8g.16993029G>TCA2686252535FGF20c.*43C>A (n.*43C>A)
c.383C>A
gnomAD v4
8g.16993030A=CA1767395940FGF20c.*42T= (n.*42T=)
c.382T=
8g.16993030A>CCA4641523FGF20c.*42T>G (n.*42T>G)
c.382T>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993030A>GCA1767395942FGF20c.*42T>C (n.*42T>C)
c.382T>C
dbSNP
8g.16993030A>TCA2579098525FGF20c.*42T>A (n.*42T>A)
c.382T>A
gnomAD v4
8g.16993032T>CCA580052682FGF20c.*40A>G (n.*40A>G)
c.380A>G
dbSNP gnomAD v2 gnomAD v4
8g.16993032T>GCA2686252536FGF20c.*40A>C (n.*40A>C)
c.380A>C
gnomAD v4
8g.16993032T=CA1767395944FGF20c.*40A= (n.*40A=)
c.380A=
8g.16993033G>ACA849280209FGF20c.*39C>T (n.*39C>T)
c.379C>T
dbSNP gnomAD v3 gnomAD v4
8g.16993033G>CCA1767395946FGF20c.*39C>G (n.*39C>G)
c.379C>G
dbSNP
8g.16993033G=CA1767395945FGF20c.*39C= (n.*39C=)
c.379C=
8g.16993033G>TCA2686252537FGF20c.*39C>A (n.*39C>A)
c.379C>A
gnomAD v4
8g.16993034G>ACA4641524FGF20c.*38C>T (n.*38C>T)
c.378C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993034G=CA1767395948FGF20c.*38C= (n.*38C=)
c.378C=
8g.16993034G>TCA580052687FGF20c.*38C>A (n.*38C>A)
c.378C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993035T>CCA172903931FGF20c.*37A>G (n.*37A>G)
c.377A>G
dbSNP
8g.16993035T=CA1767395952FGF20c.*37A= (n.*37A=)
c.377A=
8g.16993036T>GCA1767395955FGF20c.*36A>C (n.*36A>C)
c.376A>C
dbSNP
8g.16993036T=CA1767395954FGF20c.*36A= (n.*36A=)
c.376A=
8g.16993037G>ACA2686252538FGF20c.*35C>T (n.*35C>T)
c.375C>T
dbSNP gnomAD v4
8g.16993037G>CCA2686252539FGF20c.*35C>G (n.*35C>G)
c.375C>G
gnomAD v4
8g.16993037G>TCA2686252540FGF20c.*35C>A (n.*35C>A)
c.375C>A
gnomAD v4
8g.16993038T>CCA4641525FGF20c.*34A>G (n.*34A>G)
c.374A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993038T=CA1767395957FGF20c.*34A= (n.*34A=)
c.374A=
8g.16993039G=CA1767395960FGF20c.*33C= (n.*33C=)
c.373C=
8g.16993039G>TCA580052692FGF20c.*33C>A (n.*33C>A)
c.373C>A
dbSNP gnomAD v2 gnomAD v4
8g.16993040G>ACA580052694FGF20c.*32C>T (n.*32C>T)
c.372C>T
dbSNP gnomAD v2 gnomAD v4
8g.16993040G=CA1767395961FGF20c.*32C= (n.*32C=)
c.372C=
8g.16993042T>ACA580052696FGF20c.*30A>T (n.*30A>T)
c.370A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993042T>CCA172903940FGF20c.*30A>G (n.*30A>G)
c.370A>G
dbSNP
8g.16993042T=CA1767395967FGF20c.*30A= (n.*30A=)
c.370A=
8g.16993044_16993047dupCA4641526FGF20c.*26_*29dup (n.*26_*29dup)
c.366_369dup
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993044G>TCA2686252541FGF20c.*28C>A (n.*28C>A)
c.368C>A
gnomAD v4
8g.16993046C=CA1767395975FGF20c.*26G= (n.*26G=)
c.366G=
8g.16993046C>GCA4641527FGF20c.*26G>C (n.*26G>C)
c.366G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993046C>TCA2686252542FGF20c.*26G>A (n.*26G>A)
c.366G>A
gnomAD v4
8g.16993048C>GCA2686252543FGF20c.*24G>C (n.*24G>C)
c.364G>C
gnomAD v4
8g.16993048C>TCA2579098526FGF20c.*24G>A (n.*24G>A)
c.364G>A
8g.16993051C>ACA2686252544FGF20c.*21G>T (n.*21G>T)
c.361G>T
gnomAD v4
8g.16993051C=CA1767395981FGF20c.*21G= (n.*21G=)
c.361G=
8g.16993051C>GCA4641528FGF20c.*21G>C (n.*21G>C)
c.361G>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993052dupCA652194121FGF20c.*21dup (n.*21dup)
c.361dup
COSMIC
8g.16993052delCA2525398865FGF20c.*21del (n.*21del)
c.361del
8g.16993052C=CA1767395983FGF20c.*20G= (n.*20G=)
c.360G=
8g.16993052C>TCA1111331334FGF20c.*20G>A (n.*20G>A)
c.360G>A
dbSNP gnomAD v3 gnomAD v4
8g.16993054T>CCA580052699FGF20c.*18A>G (n.*18A>G)
c.358A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993054T=CA1767395984FGF20c.*18A= (n.*18A=)
c.358A=
8g.16993055A=CA1767395986FGF20c.*17T= (n.*17T=)
c.357T=
8g.16993055A>GCA4641529FGF20c.*17T>C (n.*17T>C)
c.357T>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993056A>GCA2686252545FGF20c.*16T>C (n.*16T>C)
c.356T>C
gnomAD v4
8g.16993057T>CCA4641530FGF20c.*15A>G (n.*15A>G)
c.355A>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993057T=CA1767395990FGF20c.*15A= (n.*15A=)
c.355A=
8g.16993058G>CCA2686252546FGF20c.*14C>G (n.*14C>G)
c.354C>G
gnomAD v4
8g.16993059T>ACA4641531FGF20c.*13A>T (n.*13A>T)
c.353A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993059T=CA1767395992FGF20c.*13A= (n.*13A=)
c.353A=
8g.16993061A=CA1767395997FGF20c.*11T= (n.*11T=)
c.351T=
8g.16993061A>GCA4641532FGF20c.*11T>C (n.*11T>C)
c.351T>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993061A>TCA2686252547FGF20c.*11T>A (n.*11T>A)
c.351T>A
gnomAD v4
8g.16993061_16993062delinsACCA1767395995FGF20c.*10_*11delinsGT (n.*10_*11delinsGT)
c.350_351delinsGT
8g.16993062delCA4641533FGF20c.*10del (n.*10del)
c.350del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993062C=CA1767396002FGF20c.*10G= (n.*10G=)
c.350G=
8g.16993062C>GCA4641534FGF20c.*10G>C (n.*10G>C)
c.350G>C
dbSNP ExAC gnomAD v2
8g.16993063T>CCA2686252548FGF20c.*9A>G (n.*9A>G)
c.349A>G
gnomAD v4
8g.16993064A=CA1767396007FGF20c.*8T= (n.*8T=)
c.348T=
8g.16993064A>GCA4641535FGF20c.*8T>C (n.*8T>C)
c.348T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993065T>CCA2686252549FGF20c.*7A>G (n.*7A>G)
c.347A>G
gnomAD v4
8g.16993066C>ACA4641536FGF20c.*6G>T (n.*6G>T)
c.346G>T
dbSNP ExAC gnomAD v2
8g.16993066C=CA1767396013FGF20c.*6G= (n.*6G=)
c.346G=
8g.16993066C>GCA1767396012FGF20c.*6G>C (n.*6G>C)
c.346G>C
dbSNP gnomAD v4
8g.16993066C>TCA580052704FGF20c.*6G>A (n.*6G>A)
c.346G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.16993067G>ACA4641537FGF20c.*5C>T (n.*5C>T)
c.345C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993067G=CA1767396016FGF20c.*5C= (n.*5C=)
c.345C=
8g.16993067G>TCA4641538FGF20c.*5C>A (n.*5C>A)
c.345C>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993068C>ACA1111331335FGF20c.*4G>T (n.*4G>T)
c.344G>T
dbSNP
8g.16993068C=CA1767396020FGF20c.*4G= (n.*4G=)
c.344G=
8g.16993069A=CA1767396022FGF20c.*3T= (n.*3T=)
c.343T=
8g.16993069A>CCA4641539FGF20c.*3T>G (n.*3T>G)
c.343T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993070delCA2686252550FGF20c.*2del (n.*2del)
c.342del
gnomAD v4
8g.16993070C>ACA1767396024FGF20c.*2G>T (n.*2G>T)
c.342G>T
dbSNP
8g.16993070C=CA1767396023FGF20c.*2G= (n.*2G=)
c.342G=
8g.16993070C>GCA4641540FGF20c.*2G>C (n.*2G>C)
c.342G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993070C>TCA2686252551FGF20c.*2G>A (n.*2G>A)
c.342G>A
gnomAD v4
8g.16993072T>ACA370394149FGF20c.636A>T (p.Ter212Cys)
c.340A>T
8g.16993072T>CCA370394150FGF20c.636A>G (p.Ter212Trp)
c.340A>G
8g.16993072T>GCA370394151FGF20c.636A>C (p.Ter212Cys)
c.340A>C
8g.16993073C>ACA370394152FGF20c.635G>T (p.Ter212Leu)
c.339G>T
8g.16993073C=CA1767396026FGF20c.635G= (p.Ter212=)
c.339G=
8g.16993073C>GCA370394153FGF20c.635G>C (p.Ter212Ser)
c.339G>C
dbSNP
8g.16993073C>TCA459633782FGF20c.635G>A (p.Ter212=)
c.339G>A
8g.16993074A>CCA370394154FGF20c.634T>G (p.Ter212Gly)
c.338T>G
8g.16993074A>GCA370394155FGF20c.634T>C (p.Ter212Arg)
c.338T>C
8g.16993074A>TCA370394156FGF20c.634T>A (p.Ter212Arg)
c.338T>A
8g.16993075A=CA1767396029FGF20c.633T= (p.Thr211=)
c.337T=
8g.16993075A>CCA459633784FGF20c.633T>G (p.Thr211=)
c.337T>G
8g.16993075A>GCA172904027FGF20c.633T>C (p.Thr211=)
c.337T>C
dbSNP gnomAD v4
8g.16993075A>TCA172904032FGF20c.633T>A (p.Thr211=)
c.337T>A
dbSNP gnomAD v4
8g.16993076G>ACA370394158FGF20c.632C>T (p.Thr211Ile)
c.336C>T
gnomAD v4
8g.16993076G>CCA4641541FGF20c.632C>G (p.Thr211Ser)
c.336C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993076G=CA1767396032FGF20c.632C= (p.Thr211=)
c.336C=
8g.16993076G>TCA370394157FGF20c.632C>A (p.Thr211Asn)
c.336C>A
dbSNP
8g.16993077T>ACA370394159FGF20c.631A>T (p.Thr211Ser)
c.335A>T
8g.16993077T>CCA4641543FGF20c.631A>G (p.Thr211Ala)
c.335A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993077T>GCA4641542FGF20c.631A>C (p.Thr211Pro)
c.335A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.16993077T=CA1767396036FGF20c.631A= (p.Thr211=)
c.335A=
8g.16993078G>ACA4641544FGF20c.630C>T (p.Tyr210=)
c.334C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.16993078G>CCA370394160FGF20c.630C>G (p.Tyr210Ter)
c.334C>G
8g.16993078G=CA1767396039FGF20c.630C= (p.Tyr210=)
c.334C=
8g.16993078G>TCA370394161FGF20c.630C>A (p.Tyr210Ter)
c.334C>A
8g.16993081_16993088delCA2559983190FGF20c.623_630del (p.Leu208HisfsTer21)
c.327_334del
8g.16993079T>ACA370394162FGF20c.629A>T (p.Tyr210Phe)
c.333A>T
8g.16993079T>CCA370394163FGF20c.629A>G (p.Tyr210Cys)
c.333A>G
8g.16993079T>GCA370394164FGF20c.629A>C (p.Tyr210Ser)
c.333A>C
8g.16993080A=CA1767396042FGF20c.628T= (p.Tyr210=)
c.332T=
8g.16993080A>CCA370394165FGF20c.628T>G (p.Tyr210Asp)
c.332T>G
8g.16993080A>GCA4641545FGF20c.628T>C (p.Tyr210His)
c.332T>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993080A>TCA370394166FGF20c.628T>A (p.Tyr210Asn)
c.332T>A
8g.16993081C>ACA370394169FGF20c.627G>T (p.Met209Ile)
c.331G>T
8g.16993081C>GCA370394168FGF20c.627G>C (p.Met209Ile)
c.331G>C
8g.16993081C>TCA370394167FGF20c.627G>A (p.Met209Ile)
c.331G>A
gnomAD v4
8g.16993082A=CA1767396045FGF20c.626T= (p.Met209=)
c.330T=
8g.16993082A>CCA370394170FGF20c.626T>G (p.Met209Arg)
c.330T>G
dbSNP gnomAD v2 gnomAD v4
8g.16993082A>GCA370394171FGF20c.626T>C (p.Met209Thr)
c.330T>C
8g.16993082A>TCA370394172FGF20c.626T>A (p.Met209Lys)
c.330T>A
8g.16993083T>ACA370394173FGF20c.625A>T (p.Met209Leu)
c.329A>T
8g.16993083T>CCA4641546FGF20c.625A>G (p.Met209Val)
c.329A>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993083T>GCA4641547FGF20c.625A>C (p.Met209Leu)
c.329A>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993083T=CA1767396048FGF20c.625A= (p.Met209=)
c.329A=
8g.16993084C>ACA459633788FGF20c.624G>T (p.Leu208=)
c.328G>T
8g.16993084C=CA1767396051FGF20c.624G= (p.Leu208=)
c.328G=
8g.16993084C>GCA4641548FGF20c.624G>C (p.Leu208=)
c.328G>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.16993084C>TCA459633790FGF20c.624G>A (p.Leu208=)
c.328G>A
8g.16993085A=CA1767396054FGF20c.623T= (p.Leu208=)
c.327T=
8g.16993085A>CCA370394174FGF20c.623T>G (p.Leu208Arg)
c.327T>G
8g.16993085A>GCA370394175FGF20c.623T>C (p.Leu208Pro)
c.327T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.16993085A>TCA370394176FGF20c.623T>A (p.Leu208Gln)
c.327T>A
8g.16993086G>ACA459633791FGF20c.622C>T (p.Leu208=)
c.326C>T
8g.16993086G>CCA370394177FGF20c.622C>G (p.Leu208Val)
c.326C>G
gnomAD v4
8g.16993086G>TCA370394178FGF20c.622C>A (p.Leu208Met)
c.326C>A
8g.16993087T>ACA459633794FGF20c.621A>T (p.Leu207=)
c.325A>T
8g.16993087T>CCA459633793FGF20c.621A>G (p.Leu207=)
c.325A>G
COSMIC
8g.16993087T>GCA459633792FGF20c.621A>C (p.Leu207=)
c.325A>C
8g.16993088A>CCA370394181FGF20c.620T>G (p.Leu207Arg)
c.324T>G
8g.16993088A>GCA370394180FGF20c.620T>C (p.Leu207Pro)
c.324T>C
8g.16993088A>TCA370394179FGF20c.620T>A (p.Leu207Gln)
c.324T>A
8g.16993088_16993094delinsAGGTCCTCA1767396057FGF20c.614_620delinsAGGACCT (p.Lys205=)
c.318_324delinsAGGACCT
8g.16993089G>ACA459633797FGF20c.619C>T (p.Leu207=)
c.323C>T
8g.16993089G>CCA370394182FGF20c.619C>G (p.Leu207Val)
c.323C>G
8g.16993089G>TCA370394183FGF20c.619C>A (p.Leu207Ile)
c.323C>A
8g.16993089_16993094delCA1767396061FGF20c.614_619del (p.Lys205_Leu207delinsIle)
c.318_323del
dbSNP
8g.16993090G>ACA459633798FGF20c.618C>T (p.Asp206=)
c.322C>T
8g.16993090G>CCA370394184FGF20c.618C>G (p.Asp206Glu)
c.322C>G
gnomAD v4
8g.16993090G>TCA370394185FGF20c.618C>A (p.Asp206Glu)
c.322C>A
8g.16993091delCA2686252552FGF20c.617del (p.Asp206AlafsTer3)
c.321del
gnomAD v4
8g.16993091T>ACA370394186FGF20c.617A>T (p.Asp206Val)
c.321A>T
8g.16993091T>CCA370394187FGF20c.617A>G (p.Asp206Gly)
c.321A>G
8g.16993091T>GCA370394188FGF20c.617A>C (p.Asp206Ala)
c.321A>C

Number of alleles fetched