Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.43162843C>ACA411816928TSPOc.362C>A (p.Ala121Asp)
c.50C>A (p.Ala17Asp)
n.271C>A
n.226C>A
 gnomAD v4
22g.43162843C=CA2407104077TSPOc.362C= (p.Ala121=)
c.50C= (p.Ala17=)
n.271C=
n.226C=
22g.43162843C>GCA411816929TSPOc.362C>G (p.Ala121Gly)
c.50C>G (p.Ala17Gly)
n.271C>G
n.226C>G
22g.43162843C>TCA411816930TSPOc.362C>T (p.Ala121Val)
c.50C>T (p.Ala17Val)
n.271C>T
n.226C>T
 gnomAD v4
22g.43162844C>ACA514828360TSPOc.363C>A (p.Ala121=)
c.51C>A (p.Ala17=)
n.272C>A
n.227C>A
22g.43162844C>GCA514828361TSPOc.363C>G (p.Ala121=)
c.51C>G (p.Ala17=)
n.272C>G
n.227C>G
22g.43162844C>TCA514828362TSPOc.363C>T (p.Ala121=)
c.51C>T (p.Ala17=)
n.272C>T
n.227C>T
22g.43162845_43162849dupCA639829801TSPOc.364_368dup (p.Val124LeufsTer8)
c.52_56dup (p.Val20LeufsTer8)
n.273_277dup
n.228_232dup
 dbSNP gnomAD v2 gnomAD v4
22g.43162845A>CCA411816932TSPOc.364A>C (p.Thr122Pro)
c.52A>C (p.Thr18Pro)
n.273A>C
n.228A>C
 gnomAD v4
22g.43162845A>GCA411816933TSPOc.364A>G (p.Thr122Ala)
c.52A>G (p.Thr18Ala)
n.273A>G
n.228A>G
22g.43162845A>TCA411816931TSPOc.364A>T (p.Thr122Ser)
c.52A>T (p.Thr18Ser)
n.273A>T
n.228A>T
22g.43162846C>ACA411816934TSPOc.365C>A (p.Thr122Asn)
c.53C>A (p.Thr18Asn)
n.274C>A
n.229C>A
 gnomAD v4
22g.43162846C>GCA411816935TSPOc.365C>G (p.Thr122Ser)
c.53C>G (p.Thr18Ser)
n.274C>G
n.229C>G
22g.43162846C>TCA411816936TSPOc.365C>T (p.Thr122Ile)
c.53C>T (p.Thr18Ile)
n.274C>T
n.229C>T
 gnomAD v4
22g.43162847T>ACA514828363TSPOc.366T>A (p.Thr122=)
c.54T>A (p.Thr18=)
n.275T>A
n.230T>A
22g.43162847T>CCA514828365TSPOc.366T>C (p.Thr122=)
c.54T>C (p.Thr18=)
n.275T>C
n.230T>C
22g.43162847T>GCA514828364TSPOc.366T>G (p.Thr122=)
c.54T>G (p.Thr18=)
n.275T>G
n.230T>G
22g.43162848A>CCA411816937TSPOc.367A>C (p.Thr123Pro)
c.55A>C (p.Thr19Pro)
n.276A>C
n.231A>C
22g.43162848A>GCA411816938TSPOc.367A>G (p.Thr123Ala)
c.55A>G (p.Thr19Ala)
n.276A>G
n.231A>G
22g.43162848A>TCA411816939TSPOc.367A>T (p.Thr123Ser)
c.55A>T (p.Thr19Ser)
n.276A>T
n.231A>T
22g.43162849C>ACA411816940TSPOc.368C>A (p.Thr123Asn)
c.56C>A (p.Thr19Asn)
n.277C>A
n.232C>A
 gnomAD v4
22g.43162849C=CA2407104078TSPOc.368C= (p.Thr123=)
c.56C= (p.Thr19=)
n.277C=
n.232C=
22g.43162849C>GCA411816942TSPOc.368C>G (p.Thr123Ser)
c.56C>G (p.Thr19Ser)
n.277C>G
n.232C>G
 gnomAD v4
22g.43162849C>TCA411816941TSPOc.368C>T (p.Thr123Ile)
c.56C>T (p.Thr19Ile)
n.277C>T
n.232C>T
 dbSNP gnomAD v2 gnomAD v4
22g.43162850C>ACA514828366TSPOc.369C>A (p.Thr123=)
c.57C>A (p.Thr19=)
n.278C>A
n.233C>A
 gnomAD v4
22g.43162850C=CA2407104079TSPOc.369C= (p.Thr123=)
c.57C= (p.Thr19=)
n.278C=
n.233C=
22g.43162850C>GCA514828367TSPOc.369C>G (p.Thr123=)
c.57C>G (p.Thr19=)
n.278C>G
n.233C>G
22g.43162850C>TCA10272827TSPOc.369C>T (p.Thr123=)
c.57C>T (p.Thr19=)
n.278C>T
n.233C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162851G>ACA10272828TSPOc.370G>A (p.Val124Met)
c.58G>A (p.Val20Met)
n.279G>A
n.234G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162851G>CCA411816943TSPOc.370G>C (p.Val124Leu)
c.58G>C (p.Val20Leu)
n.279G>C
n.234G>C
22g.43162851G=CA2407104080TSPOc.370G= (p.Val124=)
c.58G= (p.Val20=)
n.279G=
n.234G=
22g.43162851G>TCA411816944TSPOc.370G>T (p.Val124Leu)
c.58G>T (p.Val20Leu)
n.279G>T
n.234G>T
22g.43162852T>ACA411816945TSPOc.371T>A (p.Val124Glu)
c.59T>A (p.Val20Glu)
n.280T>A
n.235T>A
 gnomAD v4
22g.43162852T>CCA411816947TSPOc.371T>C (p.Val124Ala)
c.59T>C (p.Val20Ala)
n.280T>C
n.235T>C
22g.43162852T>GCA411816946TSPOc.371T>G (p.Val124Gly)
c.59T>G (p.Val20Gly)
n.280T>G
n.235T>G
 gnomAD v4
22g.43162853G>ACA514828368TSPOc.372G>A (p.Val124=)
c.60G>A (p.Val20=)
n.281G>A
n.236G>A
22g.43162853G>CCA514828369TSPOc.372G>C (p.Val124=)
c.60G>C (p.Val20=)
n.281G>C
n.236G>C
22g.43162853G>TCA514828370TSPOc.372G>T (p.Val124=)
c.60G>T (p.Val20=)
n.281G>T
n.236G>T
22g.43162854G>ACA411816948TSPOc.373G>A (p.Ala125Thr)
c.61G>A (p.Ala21Thr)
n.282G>A
n.237G>A
 dbSNP gnomAD v2 gnomAD v4
22g.43162854G>CCA411816950TSPOc.373G>C (p.Ala125Pro)
c.61G>C (p.Ala21Pro)
n.282G>C
n.237G>C
22g.43162854G=CA2407104081TSPOc.373G= (p.Ala125=)
c.61G= (p.Ala21=)
n.282G=
n.237G=
22g.43162854G>TCA411816949TSPOc.373G>T (p.Ala125Ser)
c.61G>T (p.Ala21Ser)
n.282G>T
n.237G>T
 gnomAD v4
22g.43162855C>ACA411816951TSPOc.374C>A (p.Ala125Asp)
c.62C>A (p.Ala21Asp)
n.283C>A
n.238C>A
 gnomAD v4
22g.43162855C>GCA411816953TSPOc.374C>G (p.Ala125Gly)
c.62C>G (p.Ala21Gly)
n.283C>G
n.238C>G
22g.43162855C>TCA411816952TSPOc.374C>T (p.Ala125Val)
c.62C>T (p.Ala21Val)
n.283C>T
n.238C>T
 gnomAD v4
22g.43162856C>ACA514828371TSPOc.375C>A (p.Ala125=)
c.63C>A (p.Ala21=)
n.284C>A
n.239C>A
 gnomAD v4
22g.43162856C=CA2407104082TSPOc.375C= (p.Ala125=)
c.63C= (p.Ala21=)
n.284C=
n.239C=
22g.43162856C>GCA10272829TSPOc.375C>G (p.Ala125=)
c.63C>G (p.Ala21=)
n.284C>G
n.239C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.43162856C>TCA10272830TSPOc.375C>T (p.Ala125=)
c.63C>T (p.Ala21=)
n.284C>T
n.239C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.43162857T>ACA411816954TSPOc.376T>A (p.Trp126Arg)
c.64T>A (p.Trp22Arg)
n.285T>A
n.240T>A
 gnomAD v4
22g.43162857T>CCA411816955TSPOc.376T>C (p.Trp126Arg)
c.64T>C (p.Trp22Arg)
n.285T>C
n.240T>C
 gnomAD v4
22g.43162857T>GCA411816956TSPOc.376T>G (p.Trp126Gly)
c.64T>G (p.Trp22Gly)
n.285T>G
n.240T>G
22g.43162858G>ACA411816957TSPOc.377G>A (p.Trp126Ter)
c.65G>A (p.Trp22Ter)
n.286G>A
n.241G>A
 gnomAD v4
22g.43162858G>CCA411816958TSPOc.377G>C (p.Trp126Ser)
c.65G>C (p.Trp22Ser)
n.286G>C
n.241G>C
 gnomAD v4
22g.43162858G>TCA411816959TSPOc.377G>T (p.Trp126Leu)
c.65G>T (p.Trp22Leu)
n.286G>T
n.241G>T
 gnomAD v4
22g.43162859G>ACA411816960TSPOc.378G>A (p.Trp126Ter)
c.66G>A (p.Trp22Ter)
n.287G>A
n.242G>A
 dbSNP gnomAD v3 gnomAD v4
22g.43162859G>CCA411816961TSPOc.378G>C (p.Trp126Cys)
c.66G>C (p.Trp22Cys)
n.287G>C
n.242G>C
22g.43162859G=CA2407104083TSPOc.378G= (p.Trp126=)
c.66G= (p.Trp22=)
n.287G=
n.242G=
22g.43162859G>TCA411816962TSPOc.378G>T (p.Trp126Cys)
c.66G>T (p.Trp22Cys)
n.287G>T
n.242G>T
22g.43162860T>ACA411816965TSPOc.379T>A (p.Tyr127Asn)
c.67T>A (p.Tyr23Asn)
n.288T>A
n.243T>A
22g.43162860T>CCA411816964TSPOc.379T>C (p.Tyr127His)
c.67T>C (p.Tyr23His)
n.288T>C
n.243T>C
 gnomAD v4
22g.43162860T>GCA411816963TSPOc.379T>G (p.Tyr127Asp)
c.67T>G (p.Tyr23Asp)
n.288T>G
n.243T>G
22g.43162861A>CCA411816966TSPOc.380A>C (p.Tyr127Ser)
c.68A>C (p.Tyr23Ser)
n.289A>C
n.244A>C
22g.43162861A>GCA411816967TSPOc.380A>G (p.Tyr127Cys)
c.68A>G (p.Tyr23Cys)
n.289A>G
n.244A>G
 COSMIC COSMIC
22g.43162861A>TCA411816968TSPOc.380A>T (p.Tyr127Phe)
c.68A>T (p.Tyr23Phe)
n.289A>T
n.244A>T
22g.43162862C>ACA411816969TSPOc.381C>A (p.Tyr127Ter)
c.69C>A (p.Tyr23Ter)
n.290C>A
n.245C>A
22g.43162862C=CA2407104084TSPOc.381C= (p.Tyr127=)
c.69C= (p.Tyr23=)
n.290C=
n.245C=
22g.43162862C>GCA411816970TSPOc.381C>G (p.Tyr127Ter)
c.69C>G (p.Tyr23Ter)
n.290C>G
n.245C>G
22g.43162862C>TCA10272831TSPOc.381C>T (p.Tyr127=)
c.69C>T (p.Tyr23=)
n.290C>T
n.245C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162863C>ACA411816971TSPOc.382C>A (p.Gln128Lys)
c.70C>A (p.Gln24Lys)
n.291C>A
n.246C>A
 gnomAD v4
22g.43162863C>GCA411816972TSPOc.382C>G (p.Gln128Glu)
c.70C>G (p.Gln24Glu)
n.291C>G
n.246C>G
22g.43162863C>TCA411816973TSPOc.382C>T (p.Gln128Ter)
c.70C>T (p.Gln24Ter)
n.291C>T
n.246C>T
22g.43162864A>CCA411816974TSPOc.383A>C (p.Gln128Pro)
c.71A>C (p.Gln24Pro)
n.292A>C
n.247A>C
22g.43162864A>GCA411816975TSPOc.383A>G (p.Gln128Arg)
c.71A>G (p.Gln24Arg)
n.292A>G
n.247A>G
 gnomAD v4
22g.43162864A>TCA411816976TSPOc.383A>T (p.Gln128Leu)
c.71A>T (p.Gln24Leu)
n.292A>T
n.247A>T
 ClinVar gnomAD v4
22g.43162865G>ACA514828372TSPOc.384G>A (p.Gln128=)
c.72G>A (p.Gln24=)
n.293G>A
n.248G>A
 dbSNP gnomAD v2 gnomAD v4
22g.43162865G>CCA411816977TSPOc.384G>C (p.Gln128His)
c.72G>C (p.Gln24His)
n.293G>C
n.248G>C
22g.43162865G=CA2407104085TSPOc.384G= (p.Gln128=)
c.72G= (p.Gln24=)
n.293G=
n.248G=
22g.43162865G>TCA411816978TSPOc.384G>T (p.Gln128His)
c.72G>T (p.Gln24His)
n.293G>T
n.248G>T
 gnomAD v4
22g.43162866G>ACA411816979TSPOc.385G>A (p.Val129Met)
c.73G>A (p.Val25Met)
n.294G>A
n.249G>A
22g.43162866G>CCA411816980TSPOc.385G>C (p.Val129Leu)
c.73G>C (p.Val25Leu)
n.294G>C
n.249G>C
 gnomAD v4
22g.43162866G>TCA411816981TSPOc.385G>T (p.Val129Leu)
c.73G>T (p.Val25Leu)
n.294G>T
n.249G>T
 gnomAD v4
22g.43162867T>ACA411816982TSPOc.386T>A (p.Val129Glu)
c.74T>A (p.Val25Glu)
n.295T>A
n.250T>A
22g.43162867T>CCA411816983TSPOc.386T>C (p.Val129Ala)
c.74T>C (p.Val25Ala)
n.295T>C
n.250T>C
22g.43162867T>GCA411816984TSPOc.386T>G (p.Val129Gly)
c.74T>G (p.Val25Gly)
n.295T>G
n.250T>G
22g.43162868G>ACA10272832TSPOc.387G>A (p.Val129=)
c.75G>A (p.Val25=)
n.296G>A
n.251G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.43162868G>CCA514828373TSPOc.387G>C (p.Val129=)
c.75G>C (p.Val25=)
n.296G>C
n.251G>C
22g.43162868G=CA2407104086TSPOc.387G= (p.Val129=)
c.75G= (p.Val25=)
n.296G=
n.251G=
22g.43162868G>TCA514828374TSPOc.387G>T (p.Val129=)
c.75G>T (p.Val25=)
n.296G>T
n.251G>T
 dbSNP gnomAD v4
22g.43162869A=CA2407104087TSPOc.388A= (p.Ser130=)
c.76A= (p.Ser26=)
n.297A=
n.252A=
22g.43162869A>CCA411816985TSPOc.388A>C (p.Ser130Arg)
c.76A>C (p.Ser26Arg)
n.297A>C
n.252A>C
22g.43162869A>GCA411816986TSPOc.388A>G (p.Ser130Gly)
c.76A>G (p.Ser26Gly)
n.297A>G
n.252A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43162869A>TCA411816987TSPOc.388A>T (p.Ser130Cys)
c.76A>T (p.Ser26Cys)
n.297A>T
n.252A>T
22g.43162870G>ACA411816988TSPOc.389G>A (p.Ser130Asn)
c.77G>A (p.Ser26Asn)
n.298G>A
n.253G>A
 gnomAD v4
22g.43162870G>CCA411816989TSPOc.389G>C (p.Ser130Thr)
c.77G>C (p.Ser26Thr)
n.298G>C
n.253G>C
22g.43162870G>TCA411816990TSPOc.389G>T (p.Ser130Ile)
c.77G>T (p.Ser26Ile)
n.298G>T
n.253G>T
22g.43162873_43162887delCA2657109557TSPOc.392_406del (p.Pro131_Arg135del)
c.80_94del (p.Pro27_Arg31del)
n.301_315del
n.256_270del
 gnomAD v4
22g.43162871C>ACA411816991TSPOc.390C>A (p.Ser130Arg)
c.78C>A (p.Ser26Arg)
n.299C>A
n.254C>A
 gnomAD v4
22g.43162871C>GCA411816992TSPOc.390C>G (p.Ser130Arg)
c.78C>G (p.Ser26Arg)
n.299C>G
n.254C>G
22g.43162871C>TCA514828375TSPOc.390C>T (p.Ser130=)
c.78C>T (p.Ser26=)
n.299C>T
n.254C>T
 gnomAD v4
22g.43162872C>ACA411816993TSPOc.391C>A (p.Pro131Thr)
c.79C>A (p.Pro27Thr)
n.300C>A
n.255C>A
 gnomAD v4
22g.43162872C>GCA411816994TSPOc.391C>G (p.Pro131Ala)
c.79C>G (p.Pro27Ala)
n.300C>G
n.255C>G
22g.43162872C>TCA411816995TSPOc.391C>T (p.Pro131Ser)
c.79C>T (p.Pro27Ser)
n.300C>T
n.255C>T
 gnomAD v4
22g.43162873C>ACA411816996TSPOc.392C>A (p.Pro131Gln)
c.80C>A (p.Pro27Gln)
n.301C>A
n.256C>A
 gnomAD v4
22g.43162873C=CA2407104088TSPOc.392C= (p.Pro131=)
c.80C= (p.Pro27=)
n.301C=
n.256C=
22g.43162873C>GCA411816997TSPOc.392C>G (p.Pro131Arg)
c.80C>G (p.Pro27Arg)
n.301C>G
n.256C>G
22g.43162873C>TCA10272833TSPOc.392C>T (p.Pro131Leu)
c.80C>T (p.Pro27Leu)
n.301C>T
n.256C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162874G>ACA514828376TSPOc.393G>A (p.Pro131=)
c.81G>A (p.Pro27=)
n.302G>A
n.257G>A
 dbSNP gnomAD v3 gnomAD v4
22g.43162874G>CCA514828377TSPOc.393G>C (p.Pro131=)
c.81G>C (p.Pro27=)
n.302G>C
n.257G>C
22g.43162874G=CA2407104089TSPOc.393G= (p.Pro131=)
c.81G= (p.Pro27=)
n.302G=
n.257G=
22g.43162874G>TCA514828378TSPOc.393G>T (p.Pro131=)
c.81G>T (p.Pro27=)
n.302G>T
n.257G>T
 gnomAD v4
22g.43162875C>ACA411816998TSPOc.394C>A (p.Leu132Met)
c.82C>A (p.Leu28Met)
n.303C>A
n.258C>A
 gnomAD v4
22g.43162875C>GCA411816999TSPOc.394C>G (p.Leu132Val)
c.82C>G (p.Leu28Val)
n.303C>G
n.258C>G
22g.43162875C>TCA514828379TSPOc.394C>T (p.Leu132=)
c.82C>T (p.Leu28=)
n.303C>T
n.258C>T
 gnomAD v4
22g.43162876T>ACA411817000TSPOc.395T>A (p.Leu132Gln)
c.83T>A (p.Leu28Gln)
n.304T>A
n.259T>A
 gnomAD v4
22g.43162876T>CCA411817001TSPOc.395T>C (p.Leu132Pro)
c.83T>C (p.Leu28Pro)
n.304T>C
n.259T>C
22g.43162876T>GCA411817002TSPOc.395T>G (p.Leu132Arg)
c.83T>G (p.Leu28Arg)
n.304T>G
n.259T>G
22g.43162876T=CA2407104090TSPOc.395T= (p.Leu132=)
c.83T= (p.Leu28=)
n.304T=
n.259T=
22g.43162877G>ACA514828382TSPOc.396G>A (p.Leu132=)
c.84G>A (p.Leu28=)
n.305G>A
n.260G>A
22g.43162877G>CCA514828381TSPOc.396G>C (p.Leu132=)
c.84G>C (p.Leu28=)
n.305G>C
n.260G>C
22g.43162877G>TCA514828380TSPOc.396G>T (p.Leu132=)
c.84G>T (p.Leu28=)
n.305G>T
n.260G>T
22g.43162877_43162887dupCA639829802TSPOc.396_406dup (p.Leu136ArgfsTer?)
c.84_94dup (p.Leu32ArgfsTer?)
n.305_315dup
n.260_270dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43162878G>ACA10272834TSPOc.397G>A (p.Ala133Thr)
c.85G>A (p.Ala29Thr)
n.306G>A
n.261G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.43162878G>CCA411817003TSPOc.397G>C (p.Ala133Pro)
c.85G>C (p.Ala29Pro)
n.306G>C
n.261G>C
22g.43162878G=CA2407104091TSPOc.397G= (p.Ala133=)
c.85G= (p.Ala29=)
n.306G=
n.261G=
22g.43162878G>TCA324775715TSPOc.397G>T (p.Ala133Ser)
c.85G>T (p.Ala29Ser)
n.306G>T
n.261G>T
 dbSNP
22g.43162879C>ACA411817004TSPOc.398C>A (p.Ala133Asp)
c.86C>A (p.Ala29Asp)
n.307C>A
n.262C>A
22g.43162879C>GCA411817006TSPOc.398C>G (p.Ala133Gly)
c.86C>G (p.Ala29Gly)
n.307C>G
n.262C>G
22g.43162879C>TCA411817005TSPOc.398C>T (p.Ala133Val)
c.86C>T (p.Ala29Val)
n.307C>T
n.262C>T
 gnomAD v4
22g.43162880C>ACA514828383TSPOc.399C>A (p.Ala133=)
c.87C>A (p.Ala29=)
n.308C>A
n.263C>A
22g.43162880C=CA2407104092TSPOc.399C= (p.Ala133=)
c.87C= (p.Ala29=)
n.308C=
n.263C=
22g.43162880C>GCA514828384TSPOc.399C>G (p.Ala133=)
c.87C>G (p.Ala29=)
n.308C>G
n.263C>G
22g.43162880C>TCA10272835TSPOc.399C>T (p.Ala133=)
c.87C>T (p.Ala29=)
n.308C>T
n.263C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.43162881G>ACA10272836TSPOc.400G>A (p.Ala134Thr)
c.88G>A (p.Ala30Thr)
n.309G>A
n.264G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162881G>CCA411817007TSPOc.400G>C (p.Ala134Pro)
c.88G>C (p.Ala30Pro)
n.309G>C
n.264G>C
22g.43162881G=CA2407104093TSPOc.400G= (p.Ala134=)
c.88G= (p.Ala30=)
n.309G=
n.264G=
22g.43162881G>TCA411817008TSPOc.400G>T (p.Ala134Ser)
c.88G>T (p.Ala30Ser)
n.309G>T
n.264G>T
 gnomAD v4
22g.43162882C>ACA411817009TSPOc.401C>A (p.Ala134Asp)
c.89C>A (p.Ala30Asp)
n.310C>A
n.265C>A
22g.43162882C>GCA411817010TSPOc.401C>G (p.Ala134Gly)
c.89C>G (p.Ala30Gly)
n.310C>G
n.265C>G
 gnomAD v4
22g.43162882C>TCA411817011TSPOc.401C>T (p.Ala134Val)
c.89C>T (p.Ala30Val)
n.310C>T
n.265C>T
22g.43162884dupCA2657109558TSPOc.403dup (p.Arg135ProfsTer?)
c.91dup (p.Arg31ProfsTer?)
n.312dup
n.267dup
 gnomAD v4
22g.43162883C>ACA514828385TSPOc.402C>A (p.Ala134=)
c.90C>A (p.Ala30=)
n.311C>A
n.266C>A
 dbSNP
22g.43162883C=CA2407104094TSPOc.402C= (p.Ala134=)
c.90C= (p.Ala30=)
n.311C=
n.266C=
22g.43162883C>GCA514828386TSPOc.402C>G (p.Ala134=)
c.90C>G (p.Ala30=)
n.311C>G
n.266C>G
22g.43162883C>TCA514828387TSPOc.402C>T (p.Ala134=)
c.90C>T (p.Ala30=)
n.311C>T
n.266C>T
 dbSNP gnomAD v2 gnomAD v4
22g.43162884C>ACA411817012TSPOc.403C>A (p.Arg135Ser)
c.91C>A (p.Arg31Ser)
n.312C>A
n.267C>A
 gnomAD v4
22g.43162884C=CA2407104095TSPOc.403C= (p.Arg135=)
c.91C= (p.Arg31=)
n.312C=
n.267C=
22g.43162884C>GCA411817013TSPOc.403C>G (p.Arg135Gly)
c.91C>G (p.Arg31Gly)
n.312C>G
n.267C>G
22g.43162884C>TCA10272837TSPOc.403C>T (p.Arg135Cys)
c.91C>T (p.Arg31Cys)
n.312C>T
n.267C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162885G>ACA10272838TSPOc.404G>A (p.Arg135His)
c.92G>A (p.Arg31His)
n.313G>A
n.268G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162885G>CCA411817014TSPOc.404G>C (p.Arg135Pro)
c.92G>C (p.Arg31Pro)
n.313G>C
n.268G>C
 dbSNP gnomAD v4
22g.43162885G=CA2407104096TSPOc.404G= (p.Arg135=)
c.92G= (p.Arg31=)
n.313G=
n.268G=
22g.43162885G>TCA411817015TSPOc.404G>T (p.Arg135Leu)
c.92G>T (p.Arg31Leu)
n.313G>T
n.268G>T
 gnomAD v4
22g.43162886C>ACA514828388TSPOc.405C>A (p.Arg135=)
c.93C>A (p.Arg31=)
n.314C>A
n.269C>A
22g.43162886C=CA2407104097TSPOc.405C= (p.Arg135=)
c.93C= (p.Arg31=)
n.314C=
n.269C=
22g.43162886C>GCA10272839TSPOc.405C>G (p.Arg135=)
c.93C>G (p.Arg31=)
n.314C>G
n.269C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.43162886C>TCA514828389TSPOc.405C>T (p.Arg135=)
c.93C>T (p.Arg31=)
n.314C>T
n.269C>T
 dbSNP
22g.43162887C>ACA411817016TSPOc.406C>A (p.Leu136Met)
c.94C>A (p.Leu32Met)
n.315C>A
n.270C>A
22g.43162887C>GCA411817017TSPOc.406C>G (p.Leu136Val)
c.94C>G (p.Leu32Val)
n.315C>G
n.270C>G
22g.43162887C>TCA514828390TSPOc.406C>T (p.Leu136=)
c.94C>T (p.Leu32=)
n.315C>T
n.270C>T
 gnomAD v4
22g.43162888T>ACA411817018TSPOc.407T>A (p.Leu136Gln)
c.95T>A (p.Leu32Gln)
n.316T>A
n.271T>A
22g.43162888T>CCA411817019TSPOc.407T>C (p.Leu136Pro)
c.95T>C (p.Leu32Pro)
n.316T>C
n.271T>C
22g.43162888T>GCA411817020TSPOc.407T>G (p.Leu136Arg)
c.95T>G (p.Leu32Arg)
n.316T>G
n.271T>G
22g.43162889G>ACA514828391TSPOc.408G>A (p.Leu136=)
c.96G>A (p.Leu32=)
n.317G>A
n.272G>A
 gnomAD v4
22g.43162889G>CCA514828392TSPOc.408G>C (p.Leu136=)
c.96G>C (p.Leu32=)
n.317G>C
n.272G>C
22g.43162889G>TCA514828393TSPOc.408G>T (p.Leu136=)
c.96G>T (p.Leu32=)
n.317G>T
n.272G>T
 gnomAD v4
22g.43162890C>ACA411817021TSPOc.409C>A (p.Leu137Ile)
c.97C>A (p.Leu33Ile)
n.318C>A
n.273C>A
 gnomAD v4
22g.43162890C=CA2407104098TSPOc.409C= (p.Leu137=)
c.97C= (p.Leu33=)
n.318C=
n.273C=
22g.43162890C>GCA411817022TSPOc.409C>G (p.Leu137Val)
c.97C>G (p.Leu33Val)
n.318C>G
n.273C>G
22g.43162890C>TCA411817023TSPOc.409C>T (p.Leu137Phe)
c.97C>T (p.Leu33Phe)
n.318C>T
n.273C>T
 dbSNP gnomAD v2
22g.43162891T>ACA411817024TSPOc.410T>A (p.Leu137His)
c.98T>A (p.Leu33His)
n.319T>A
n.274T>A
22g.43162891T>CCA411817025TSPOc.410T>C (p.Leu137Pro)
c.98T>C (p.Leu33Pro)
n.319T>C
n.274T>C
 gnomAD v4
22g.43162891T>GCA411817026TSPOc.410T>G (p.Leu137Arg)
c.98T>G (p.Leu33Arg)
n.319T>G
n.274T>G
22g.43162892C>ACA514828394TSPOc.411C>A (p.Leu137=)
c.99C>A (p.Leu33=)
n.320C>A
n.275C>A
 gnomAD v4
22g.43162892C=CA2407104099TSPOc.411C= (p.Leu137=)
c.99C= (p.Leu33=)
n.320C=
n.275C=
22g.43162892C>GCA10272840TSPOc.411C>G (p.Leu137=)
c.99C>G (p.Leu33=)
n.320C>G
n.275C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162892C>TCA514828395TSPOc.411C>T (p.Leu137=)
c.99C>T (p.Leu33=)
n.320C>T
n.275C>T
22g.43162893T>ACA411817029TSPOc.412T>A (p.Tyr138Asn)
c.100T>A (p.Tyr34Asn)
n.321T>A
n.276T>A
22g.43162893T>CCA411817028TSPOc.412T>C (p.Tyr138His)
c.100T>C (p.Tyr34His)
n.321T>C
n.276T>C
22g.43162893T>GCA411817027TSPOc.412T>G (p.Tyr138Asp)
c.100T>G (p.Tyr34Asp)
n.321T>G
n.276T>G
22g.43162894delCA2819090868TSPOc.413del (p.Tyr138SerfsTer?)
c.101del (p.Tyr34SerfsTer?)
n.322del
n.277del
22g.43162894A=CA2407104100TSPOc.413A= (p.Tyr138=)
c.101A= (p.Tyr34=)
n.322A=
n.277A=
22g.43162894A>CCA411817030TSPOc.413A>C (p.Tyr138Ser)
c.101A>C (p.Tyr34Ser)
n.322A>C
n.277A>C
 dbSNP gnomAD v2 gnomAD v4
22g.43162894A>GCA411817031TSPOc.413A>G (p.Tyr138Cys)
c.101A>G (p.Tyr34Cys)
n.322A>G
n.277A>G
 dbSNP gnomAD v2 gnomAD v4
22g.43162894A>TCA411817032TSPOc.413A>T (p.Tyr138Phe)
c.101A>T (p.Tyr34Phe)
n.322A>T
n.277A>T
22g.43162895C>ACA411817033TSPOc.414C>A (p.Tyr138Ter)
c.102C>A (p.Tyr34Ter)
n.323C>A
n.278C>A
22g.43162895C>GCA411817034TSPOc.414C>G (p.Tyr138Ter)
c.102C>G (p.Tyr34Ter)
n.323C>G
n.278C>G
22g.43162895C>TCA514828396TSPOc.414C>T (p.Tyr138=)
c.102C>T (p.Tyr34=)
n.323C>T
n.278C>T
 gnomAD v4
22g.43162896C>ACA10272841TSPOc.415C>A (p.Pro139Thr)
c.103C>A (p.Pro35Thr)
n.324C>A
n.279C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.43162896C=CA2407104101TSPOc.415C= (p.Pro139=)
c.103C= (p.Pro35=)
n.324C=
n.279C=
22g.43162896C>GCA411817035TSPOc.415C>G (p.Pro139Ala)
c.103C>G (p.Pro35Ala)
n.324C>G
n.279C>G
22g.43162896C>TCA10272842TSPOc.415C>T (p.Pro139Ser)
c.103C>T (p.Pro35Ser)
n.324C>T
n.279C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162897C>ACA411817036TSPOc.416C>A (p.Pro139His)
c.104C>A (p.Pro35His)
n.325C>A
n.280C>A
 dbSNP gnomAD v4
22g.43162897C=CA2407104102TSPOc.416C= (p.Pro139=)
c.104C= (p.Pro35=)
n.325C=
n.280C=
22g.43162897C>GCA411817037TSPOc.416C>G (p.Pro139Arg)
c.104C>G (p.Pro35Arg)
n.325C>G
n.280C>G
22g.43162897C>TCA411817038TSPOc.416C>T (p.Pro139Leu)
c.104C>T (p.Pro35Leu)
n.325C>T
n.280C>T
22g.43162898C>ACA514828399TSPOc.417C>A (p.Pro139=)
c.105C>A (p.Pro35=)
n.326C>A
n.281C>A
 gnomAD v4
22g.43162898C>GCA514828398TSPOc.417C>G (p.Pro139=)
c.105C>G (p.Pro35=)
n.326C>G
n.281C>G
22g.43162898C>TCA514828397TSPOc.417C>T (p.Pro139=)
c.105C>T (p.Pro35=)
n.326C>T
n.281C>T
22g.43162899T>ACA411817039TSPOc.418T>A (p.Tyr140Asn)
c.106T>A (p.Tyr36Asn)
n.327T>A
n.282T>A
22g.43162899T>CCA411817040TSPOc.418T>C (p.Tyr140His)
c.106T>C (p.Tyr36His)
n.327T>C
n.282T>C
 gnomAD v4
22g.43162899T>GCA411817041TSPOc.418T>G (p.Tyr140Asp)
c.106T>G (p.Tyr36Asp)
n.327T>G
n.282T>G
22g.43162900A=CA2407104103TSPOc.419A= (p.Tyr140=)
c.107A= (p.Tyr36=)
n.328A=
n.283A=
22g.43162900A>CCA411817042TSPOc.419A>C (p.Tyr140Ser)
c.107A>C (p.Tyr36Ser)
n.328A>C
n.283A>C
22g.43162900A>GCA411817044TSPOc.419A>G (p.Tyr140Cys)
c.107A>G (p.Tyr36Cys)
n.328A>G
n.283A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43162900A>TCA411817043TSPOc.419A>T (p.Tyr140Phe)
c.107A>T (p.Tyr36Phe)
n.328A>T
n.283A>T
22g.43162901C>ACA411817045TSPOc.420C>A (p.Tyr140Ter)
c.108C>A (p.Tyr36Ter)
n.329C>A
n.284C>A
22g.43162901C=CA2407104104TSPOc.420C= (p.Tyr140=)
c.108C= (p.Tyr36=)
n.329C=
n.284C=
22g.43162901C>GCA411817046TSPOc.420C>G (p.Tyr140Ter)
c.108C>G (p.Tyr36Ter)
n.329C>G
n.284C>G
22g.43162901C>TCA514828400TSPOc.420C>T (p.Tyr140=)
c.108C>T (p.Tyr36=)
n.329C>T
n.284C>T
 dbSNP gnomAD v4
22g.43162902C>ACA411817047TSPOc.421C>A (p.Leu141Met)
c.109C>A (p.Leu37Met)
n.330C>A
n.285C>A
 gnomAD v4
22g.43162902C=CA2407104105TSPOc.421C= (p.Leu141=)
c.109C= (p.Leu37=)
n.330C=
n.285C=
22g.43162902C>GCA411817048TSPOc.421C>G (p.Leu141Val)
c.109C>G (p.Leu37Val)
n.330C>G
n.285C>G
 gnomAD v4
22g.43162902C>TCA514828401TSPOc.421C>T (p.Leu141=)
c.109C>T (p.Leu37=)
n.330C>T
n.285C>T
 dbSNP gnomAD v2 gnomAD v4
22g.43162903T>ACA411817049TSPOc.422T>A (p.Leu141Gln)
c.110T>A (p.Leu37Gln)
n.331T>A
n.286T>A
22g.43162903T>CCA411817050TSPOc.422T>C (p.Leu141Pro)
c.110T>C (p.Leu37Pro)
n.331T>C
n.286T>C
22g.43162903T>GCA411817051TSPOc.422T>G (p.Leu141Arg)
c.110T>G (p.Leu37Arg)
n.331T>G
n.286T>G
22g.43162904G>ACA10272843TSPOc.423G>A (p.Leu141=)
c.111G>A (p.Leu37=)
n.332G>A
n.287G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162904G>CCA514828403TSPOc.423G>C (p.Leu141=)
c.111G>C (p.Leu37=)
n.332G>C
n.287G>C
22g.43162904G=CA2407104106TSPOc.423G= (p.Leu141=)
c.111G= (p.Leu37=)
n.332G=
n.287G=
22g.43162904G>TCA514828402TSPOc.423G>T (p.Leu141=)
c.111G>T (p.Leu37=)
n.332G>T
n.287G>T
22g.43162905G>ACA411817052TSPOc.424G>A (p.Ala142Thr)
c.112G>A (p.Ala38Thr)
n.333G>A
n.288G>A
 gnomAD v4
22g.43162905G>CCA411817053TSPOc.424G>C (p.Ala142Pro)
c.112G>C (p.Ala38Pro)
n.333G>C
n.288G>C
22g.43162905G>TCA411817054TSPOc.424G>T (p.Ala142Ser)
c.112G>T (p.Ala38Ser)
n.333G>T
n.288G>T
 gnomAD v4
22g.43162906C>ACA411817056TSPOc.425C>A (p.Ala142Asp)
c.113C>A (p.Ala38Asp)
n.334C>A
n.289C>A
 dbSNP gnomAD v4
22g.43162906C=CA2407104107TSPOc.425C= (p.Ala142=)
c.113C= (p.Ala38=)
n.334C=
n.289C=
22g.43162906C>GCA411817057TSPOc.425C>G (p.Ala142Gly)
c.113C>G (p.Ala38Gly)
n.334C>G
n.289C>G
22g.43162906C>TCA411817055TSPOc.425C>T (p.Ala142Val)
c.113C>T (p.Ala38Val)
n.334C>T
n.289C>T
 gnomAD v4
22g.43162907C>ACA514828404TSPOc.426C>A (p.Ala142=)
c.114C>A (p.Ala38=)
n.335C>A
n.290C>A
 gnomAD v4
22g.43162907C>GCA514828405TSPOc.426C>G (p.Ala142=)
c.114C>G (p.Ala38=)
n.335C>G
n.290C>G
 gnomAD v4
22g.43162907C>TCA514828406TSPOc.426C>T (p.Ala142=)
c.114C>T (p.Ala38=)
n.335C>T
n.290C>T
22g.43162908T>ACA411817059TSPOc.427T>A (p.Trp143Arg)
c.115T>A (p.Trp39Arg)
n.336T>A
n.291T>A
22g.43162908T>CCA411817058TSPOc.427T>C (p.Trp143Arg)
c.115T>C (p.Trp39Arg)
n.336T>C
n.291T>C
 dbSNP gnomAD v4
22g.43162908T>GCA411817060TSPOc.427T>G (p.Trp143Gly)
c.115T>G (p.Trp39Gly)
n.336T>G
n.291T>G
22g.43162908T=CA2407104108TSPOc.427T= (p.Trp143=)
c.115T= (p.Trp39=)
n.336T=
n.291T=
22g.43162909G>ACA411817061TSPOc.428G>A (p.Trp143Ter)
c.116G>A (p.Trp39Ter)
n.337G>A
n.292G>A
 gnomAD v4
22g.43162909G>CCA411817062TSPOc.428G>C (p.Trp143Ser)
c.116G>C (p.Trp39Ser)
n.337G>C
n.292G>C
22g.43162909G>TCA411817063TSPOc.428G>T (p.Trp143Leu)
c.116G>T (p.Trp39Leu)
n.337G>T
n.292G>T
 gnomAD v4
22g.43162910G>ACA411817064TSPOc.429G>A (p.Trp143Ter)
c.117G>A (p.Trp39Ter)
n.338G>A
n.293G>A
 gnomAD v4
22g.43162910G>CCA411817065TSPOc.429G>C (p.Trp143Cys)
c.117G>C (p.Trp39Cys)
n.338G>C
n.293G>C
22g.43162910G>TCA411817066TSPOc.429G>T (p.Trp143Cys)
c.117G>T (p.Trp39Cys)
n.338G>T
n.293G>T
 gnomAD v4
22g.43162911C>ACA411817068TSPOc.430C>A (p.Leu144Met)
c.118C>A (p.Leu40Met)
n.339C>A
n.294C>A
 gnomAD v4
22g.43162911C=CA2407104109TSPOc.430C= (p.Leu144=)
c.118C= (p.Leu40=)
n.339C=
n.294C=
22g.43162911C>GCA411817067TSPOc.430C>G (p.Leu144Val)
c.118C>G (p.Leu40Val)
n.339C>G
n.294C>G
22g.43162911C>TCA10272844TSPOc.430C>T (p.Leu144=)
c.118C>T (p.Leu40=)
n.339C>T
n.294C>T
 dbSNP ExAC gnomAD v4
22g.43162912T>ACA411817069TSPOc.431T>A (p.Leu144Gln)
c.119T>A (p.Leu40Gln)
n.340T>A
n.295T>A
22g.43162912T>CCA411817070TSPOc.431T>C (p.Leu144Pro)
c.119T>C (p.Leu40Pro)
n.340T>C
n.295T>C
 gnomAD v4
22g.43162912T>GCA411817071TSPOc.431T>G (p.Leu144Arg)
c.119T>G (p.Leu40Arg)
n.340T>G
n.295T>G
22g.43162913G>ACA514828407TSPOc.432G>A (p.Leu144=)
c.120G>A (p.Leu40=)
n.341G>A
n.296G>A
 gnomAD v4
22g.43162913G>CCA514828408TSPOc.432G>C (p.Leu144=)
c.120G>C (p.Leu40=)
n.341G>C
n.296G>C
 gnomAD v4
22g.43162913G>TCA514828409TSPOc.432G>T (p.Leu144=)
c.120G>T (p.Leu40=)
n.341G>T
n.296G>T
22g.43162914G>ACA411817072TSPOc.433G>A (p.Ala145Thr)
c.121G>A (p.Ala41Thr)
n.342G>A
n.297G>A
 dbSNP gnomAD v2 gnomAD v4
22g.43162914G>CCA411817073TSPOc.433G>C (p.Ala145Pro)
c.121G>C (p.Ala41Pro)
n.342G>C
n.297G>C
22g.43162914G=CA2407104110TSPOc.433G= (p.Ala145=)
c.121G= (p.Ala41=)
n.342G=
n.297G=
22g.43162914G>TCA411817074TSPOc.433G>T (p.Ala145Ser)
c.121G>T (p.Ala41Ser)
n.342G>T
n.297G>T
 gnomAD v4
22g.43162915C>ACA411817077TSPOc.434C>A (p.Ala145Asp)
c.122C>A (p.Ala41Asp)
n.343C>A
n.298C>A
 dbSNP gnomAD v4
22g.43162915C>GCA411817075TSPOc.434C>G (p.Ala145Gly)
c.122C>G (p.Ala41Gly)
n.343C>G
n.298C>G
22g.43162915C>TCA411817076TSPOc.434C>T (p.Ala145Val)
c.122C>T (p.Ala41Val)
n.343C>T
n.298C>T
 gnomAD v4
22g.43162916C>ACA514828410TSPOc.435C>A (p.Ala145=)
c.123C>A (p.Ala41=)
n.344C>A
n.299C>A
22g.43162916C=CA2407104111TSPOc.435C= (p.Ala145=)
c.123C= (p.Ala41=)
n.344C=
n.299C=
22g.43162916C>GCA514828411TSPOc.435C>G (p.Ala145=)
c.123C>G (p.Ala41=)
n.344C>G
n.299C>G
22g.43162916C>TCA10272845TSPOc.435C>T (p.Ala145=)
c.123C>T (p.Ala41=)
n.344C>T
n.299C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.43162917T>ACA411817078TSPOc.436T>A (p.Phe146Ile)
c.124T>A (p.Phe42Ile)
n.345T>A
n.300T>A
22g.43162917T>CCA411817079TSPOc.436T>C (p.Phe146Leu)
c.124T>C (p.Phe42Leu)
n.345T>C
n.300T>C
 gnomAD v4
22g.43162917T>GCA411817080TSPOc.436T>G (p.Phe146Val)
c.124T>G (p.Phe42Val)
n.345T>G
n.300T>G
22g.43162918T>ACA411817081TSPOc.437T>A (p.Phe146Tyr)
c.125T>A (p.Phe42Tyr)
n.346T>A
n.301T>A
22g.43162918T>CCA411817082TSPOc.437T>C (p.Phe146Ser)
c.125T>C (p.Phe42Ser)
n.346T>C
n.301T>C
 gnomAD v4
22g.43162918T>GCA411817083TSPOc.437T>G (p.Phe146Cys)
c.125T>G (p.Phe42Cys)
n.346T>G
n.301T>G
22g.43162919C>ACA411817084TSPOc.438C>A (p.Phe146Leu)
c.126C>A (p.Phe42Leu)
n.347C>A
n.302C>A
 gnomAD v4
22g.43162919C=CA2407104112TSPOc.438C= (p.Phe146=)
c.126C= (p.Phe42=)
n.347C=
n.302C=
22g.43162919C>GCA411817085TSPOc.438C>G (p.Phe146Leu)
c.126C>G (p.Phe42Leu)
n.347C>G
n.302C>G
 dbSNP gnomAD v4
22g.43162919C>TCA10272846TSPOc.438C>T (p.Phe146=)
c.126C>T (p.Phe42=)
n.347C>T
n.302C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.43162920A=CA1139772264TSPOc.439A= (p.Thr147=)
c.127A= (p.Thr43=)
n.348A=
n.303A=
22g.43162920A>CCA411817086TSPOc.439A>C (p.Thr147Pro)
c.127A>C (p.Thr43Pro)
n.348A>C
n.303A>C
22g.43162920A>GCA10272847TSPOc.439A>G (p.Thr147Ala)
c.127A>G (p.Thr43Ala)
n.348A>G
n.303A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162920A>TCA411817087TSPOc.439A>T (p.Thr147Ser)
c.127A>T (p.Thr43Ser)
n.348A>T
n.303A>T
 gnomAD v4
22g.43162921C>ACA411817088TSPOc.440C>A (p.Thr147Lys)
c.128C>A (p.Thr43Lys)
n.349C>A
n.304C>A
 gnomAD v4
22g.43162921C=CA2407104113TSPOc.440C= (p.Thr147=)
c.128C= (p.Thr43=)
n.349C=
n.304C=
22g.43162921C>GCA411817089TSPOc.440C>G (p.Thr147Arg)
c.128C>G (p.Thr43Arg)
n.349C>G
n.304C>G
22g.43162921C>TCA10272848TSPOc.440C>T (p.Thr147Met)
c.128C>T (p.Thr43Met)
n.349C>T
n.304C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.43162921_43162922insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGCCA2657109559TSPOc.440_441insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC (p.Thr149LeufsTer?)
c.128_129insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC (p.Thr45LeufsTer?)
n.349_350insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC
n.304_305insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC
 gnomAD v4
22g.43162922G>ACA10272849TSPOc.441G>A (p.Thr147=)
c.129G>A (p.Thr43=)
n.350G>A
n.305G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162922G>CCA514828413TSPOc.441G>C (p.Thr147=)
c.129G>C (p.Thr43=)
n.350G>C
n.305G>C
22g.43162922G=CA2407104114TSPOc.441G= (p.Thr147=)
c.129G= (p.Thr43=)
n.350G=
n.305G=
22g.43162922G>TCA514828412TSPOc.441G>T (p.Thr147=)
c.129G>T (p.Thr43=)
n.350G>T
n.305G>T
 dbSNP gnomAD v3 gnomAD v4
22g.43162923A>CCA411817090TSPOc.442A>C (p.Thr148Pro)
c.130A>C (p.Thr44Pro)
n.351A>C
n.306A>C
22g.43162923A>GCA411817091TSPOc.442A>G (p.Thr148Ala)
c.130A>G (p.Thr44Ala)
n.351A>G
n.306A>G
22g.43162923A>TCA411817092TSPOc.442A>T (p.Thr148Ser)
c.130A>T (p.Thr44Ser)
n.351A>T
n.306A>T
 gnomAD v4
22g.43162924C>ACA411817093TSPOc.443C>A (p.Thr148Asn)
c.131C>A (p.Thr44Asn)
n.352C>A
n.307C>A
 gnomAD v4
22g.43162924C>GCA411817094TSPOc.443C>G (p.Thr148Ser)
c.131C>G (p.Thr44Ser)
n.352C>G
n.307C>G
22g.43162924C>TCA411817095TSPOc.443C>T (p.Thr148Ile)
c.131C>T (p.Thr44Ile)
n.352C>T
n.307C>T
22g.43162924_43162926delinsCCACA2407104115TSPOc.443_445delinsCCA (p.Thr148=)
c.131_133delinsCCA (p.Thr44=)
n.352_354delinsCCA
n.307_309delinsCCA
22g.43162925C>ACA514828414TSPOc.444C>A (p.Thr148=)
c.132C>A (p.Thr44=)
n.353C>A
n.308C>A
 gnomAD v4
22g.43162925C=CA2407104116TSPOc.444C= (p.Thr148=)
c.132C= (p.Thr44=)
n.353C=
n.308C=
22g.43162925C>GCA514828415TSPOc.444C>G (p.Thr148=)
c.132C>G (p.Thr44=)
n.353C>G
n.308C>G
22g.43162925C>TCA10272850TSPOc.444C>T (p.Thr148=)
c.132C>T (p.Thr44=)
n.353C>T
n.308C>T
 dbSNP ExAC gnomAD v4
22g.43162928_43162929delCA1026020955TSPOc.447_448del (p.Leu150GlnfsTer?)
c.135_136del (p.Leu46GlnfsTer?)
n.356_357del
n.311_312del
 dbSNP gnomAD v3 gnomAD v4
22g.43162926A>CCA411817096TSPOc.445A>C (p.Thr149Pro)
c.133A>C (p.Thr45Pro)
n.354A>C
n.309A>C
22g.43162926A>GCA411817097TSPOc.445A>G (p.Thr149Ala)
c.133A>G (p.Thr45Ala)
n.354A>G
n.309A>G
 gnomAD v4
22g.43162926A>TCA411817098TSPOc.445A>T (p.Thr149Ser)
c.133A>T (p.Thr45Ser)
n.354A>T
n.309A>T
22g.43162927C>ACA411817099TSPOc.446C>A (p.Thr149Lys)
c.134C>A (p.Thr45Lys)
n.355C>A
n.310C>A
 gnomAD v4
22g.43162927C=CA2407104117TSPOc.446C= (p.Thr149=)
c.134C= (p.Thr45=)
n.355C=
n.310C=
22g.43162927C>GCA411817100TSPOc.446C>G (p.Thr149Arg)
c.134C>G (p.Thr45Arg)
n.355C>G
n.310C>G
 gnomAD v4
22g.43162927C>TCA411817101TSPOc.446C>T (p.Thr149Ile)
c.134C>T (p.Thr45Ile)
n.355C>T
n.310C>T
 dbSNP gnomAD v4
22g.43162928A=CA2407104118TSPOc.447A= (p.Thr149=)
c.135A= (p.Thr45=)
n.356A=
n.311A=
22g.43162928A>CCA514828416TSPOc.447A>C (p.Thr149=)
c.135A>C (p.Thr45=)
n.356A>C
n.311A>C
 gnomAD v4
22g.43162928A>GCA514828417TSPOc.447A>G (p.Thr149=)
c.135A>G (p.Thr45=)
n.356A>G
n.311A>G
 dbSNP gnomAD v3 gnomAD v4
22g.43162928A>TCA514828418TSPOc.447A>T (p.Thr149=)
c.135A>T (p.Thr45=)
n.356A>T
n.311A>T
22g.43162929C>ACA411817102TSPOc.448C>A (p.Leu150Ile)
c.136C>A (p.Leu46Ile)
n.357C>A
n.312C>A
22g.43162929C=CA2407104119TSPOc.448C= (p.Leu150=)
c.136C= (p.Leu46=)
n.357C=
n.312C=
22g.43162929C>GCA411817103TSPOc.448C>G (p.Leu150Val)
c.136C>G (p.Leu46Val)
n.357C>G
n.312C>G
22g.43162929C>TCA10272851TSPOc.448C>T (p.Leu150Phe)
c.136C>T (p.Leu46Phe)
n.357C>T
n.312C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162930T>ACA411817104TSPOc.449T>A (p.Leu150His)
c.137T>A (p.Leu46His)
n.358T>A
n.313T>A
 dbSNP gnomAD v2
22g.43162930T>CCA411817105TSPOc.449T>C (p.Leu150Pro)
c.137T>C (p.Leu46Pro)
n.358T>C
n.313T>C
22g.43162930T>GCA411817106TSPOc.449T>G (p.Leu150Arg)
c.137T>G (p.Leu46Arg)
n.358T>G
n.313T>G
22g.43162930T=CA2407104120TSPOc.449T= (p.Leu150=)
c.137T= (p.Leu46=)
n.358T=
n.313T=
22g.43162931C>ACA514828420TSPOc.450C>A (p.Leu150=)
c.138C>A (p.Leu46=)
n.359C>A
n.314C>A
 gnomAD v4
22g.43162931C=CA2407104121TSPOc.450C= (p.Leu150=)
c.138C= (p.Leu46=)
n.359C=
n.314C=
22g.43162931C>GCA514828419TSPOc.450C>G (p.Leu150=)
c.138C>G (p.Leu46=)
n.359C>G
n.314C>G
22g.43162931C>TCA324775871TSPOc.450C>T (p.Leu150=)
c.138C>T (p.Leu46=)
n.359C>T
n.314C>T
 dbSNP gnomAD v4
22g.43162932A>CCA411817107TSPOc.451A>C (p.Asn151His)
c.139A>C (p.Asn47His)
n.360A>C
n.315A>C
22g.43162932A>GCA411817108TSPOc.451A>G (p.Asn151Asp)
c.139A>G (p.Asn47Asp)
n.360A>G
n.315A>G
 gnomAD v4
22g.43162932A>TCA411817109TSPOc.451A>T (p.Asn151Tyr)
c.139A>T (p.Asn47Tyr)
n.360A>T
n.315A>T
22g.43162933A>CCA411817110TSPOc.452A>C (p.Asn151Thr)
c.140A>C (p.Asn47Thr)
n.361A>C
n.316A>C
22g.43162933A>GCA411817111TSPOc.452A>G (p.Asn151Ser)
c.140A>G (p.Asn47Ser)
n.361A>G
n.316A>G
22g.43162933A>TCA411817112TSPOc.452A>T (p.Asn151Ile)
c.140A>T (p.Asn47Ile)
n.361A>T
n.316A>T
22g.43162934C>ACA411817113TSPOc.453C>A (p.Asn151Lys)
c.141C>A (p.Asn47Lys)
n.362C>A
n.317C>A
 gnomAD v4
22g.43162934C>GCA411817114TSPOc.453C>G (p.Asn151Lys)
c.141C>G (p.Asn47Lys)
n.362C>G
n.317C>G
22g.43162934C>TCA514828421TSPOc.453C>T (p.Asn151=)
c.141C>T (p.Asn47=)
n.362C>T
n.317C>T
22g.43162935T>ACA411817117TSPOc.454T>A (p.Tyr152Asn)
c.142T>A (p.Tyr48Asn)
n.363T>A
n.318T>A
22g.43162935T>CCA411817115TSPOc.454T>C (p.Tyr152His)
c.142T>C (p.Tyr48His)
n.363T>C
n.318T>C
 gnomAD v4
22g.43162935T>GCA411817116TSPOc.454T>G (p.Tyr152Asp)
c.142T>G (p.Tyr48Asp)
n.363T>G
n.318T>G
22g.43162936A>CCA411817118TSPOc.455A>C (p.Tyr152Ser)
c.143A>C (p.Tyr48Ser)
n.364A>C
n.319A>C
22g.43162936A>GCA411817119TSPOc.455A>G (p.Tyr152Cys)
c.143A>G (p.Tyr48Cys)
n.364A>G
n.319A>G
 gnomAD v4
22g.43162936A>TCA411817120TSPOc.455A>T (p.Tyr152Phe)
c.143A>T (p.Tyr48Phe)
n.364A>T
n.319A>T
 gnomAD v4
22g.43162937C>ACA411817121TSPOc.456C>A (p.Tyr152Ter)
c.144C>A (p.Tyr48Ter)
n.365C>A
n.320C>A
 gnomAD v4
22g.43162937C>GCA411817122TSPOc.456C>G (p.Tyr152Ter)
c.144C>G (p.Tyr48Ter)
n.365C>G
n.320C>G
22g.43162937C>TCA514828422TSPOc.456C>T (p.Tyr152=)
c.144C>T (p.Tyr48=)
n.365C>T
n.320C>T
22g.43162938T>ACA411817123TSPOc.457T>A (p.Cys153Ser)
c.145T>A (p.Cys49Ser)
n.366T>A
n.321T>A
22g.43162938T>CCA411817124TSPOc.457T>C (p.Cys153Arg)
c.145T>C (p.Cys49Arg)
n.366T>C
n.321T>C
22g.43162938T>GCA411817125TSPOc.457T>G (p.Cys153Gly)
c.145T>G (p.Cys49Gly)
n.366T>G
n.321T>G
22g.43162939G>ACA411817126TSPOc.458G>A (p.Cys153Tyr)
c.146G>A (p.Cys49Tyr)
n.367G>A
n.322G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.43162939G>CCA411817127TSPOc.458G>C (p.Cys153Ser)
c.146G>C (p.Cys49Ser)
n.367G>C
n.322G>C
22g.43162939G=CA2407104122TSPOc.458G= (p.Cys153=)
c.146G= (p.Cys49=)
n.367G=
n.322G=
22g.43162939G>TCA411817128TSPOc.458G>T (p.Cys153Phe)
c.146G>T (p.Cys49Phe)
n.367G>T
n.322G>T
 gnomAD v4
22g.43162940C>ACA411817129TSPOc.459C>A (p.Cys153Ter)
c.147C>A (p.Cys49Ter)
n.368C>A
n.323C>A
 dbSNP gnomAD v2 gnomAD v4
22g.43162940C=CA2407104123TSPOc.459C= (p.Cys153=)
c.147C= (p.Cys49=)
n.368C=
n.323C=
22g.43162940C>GCA411817130TSPOc.459C>G (p.Cys153Trp)
c.147C>G (p.Cys49Trp)
n.368C>G
n.323C>G
 dbSNP gnomAD v2
22g.43162940C>TCA10272852TSPOc.459C>T (p.Cys153=)
c.147C>T (p.Cys49=)
n.368C>T
n.323C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43162941G>ACA10272853TSPOc.460G>A (p.Val154Ile)
c.148G>A (p.Val50Ile)
n.369G>A
n.324G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.43162941G>CCA411817132TSPOc.460G>C (p.Val154Leu)
c.148G>C (p.Val50Leu)
n.369G>C
n.324G>C
22g.43162941G=CA2407104124TSPOc.460G= (p.Val154=)
c.148G= (p.Val50=)
n.369G=
n.324G=
22g.43162941G>TCA411817131TSPOc.460G>T (p.Val154Leu)
c.148G>T (p.Val50Leu)
n.369G>T
n.324G>T
22g.43162942T>ACA411817133TSPOc.461T>A (p.Val154Glu)
c.149T>A (p.Val50Glu)
n.370T>A
n.325T>A
22g.43162942T>CCA411817134TSPOc.461T>C (p.Val154Ala)
c.149T>C (p.Val50Ala)
n.370T>C
n.325T>C
22g.43162942T>GCA411817135TSPOc.461T>G (p.Val154Gly)
c.149T>G (p.Val50Gly)
n.370T>G
n.325T>G
22g.43162943A=CA2407104125TSPOc.462A= (p.Val154=)
c.150A= (p.Val50=)
n.371A=
n.326A=
22g.43162943A>CCA514828423TSPOc.462A>C (p.Val154=)
c.150A>C (p.Val50=)
n.371A>C
n.326A>C
22g.43162943A>GCA514828424TSPOc.462A>G (p.Val154=)
c.150A>G (p.Val50=)
n.371A>G
n.326A>G
 dbSNP gnomAD v4
22g.43162943A>TCA514828425TSPOc.462A>T (p.Val154=)
c.150A>T (p.Val50=)
n.371A>T
n.326A>T

Number of alleles fetched