Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.172448097T>ACA355515061GHSRc.317A>T (p.Tyr106Phe)
3g.172448097T>CCA355515063GHSRc.317A>G (p.Tyr106Cys)
gnomAD v4
3g.172448097T>GCA355515062GHSRc.317A>C (p.Tyr106Ser)
3g.172448098A>CCA355515065GHSRc.316T>G (p.Tyr106Asp)
3g.172448098A>GCA355515067GHSRc.316T>C (p.Tyr106His)
gnomAD v4
3g.172448098A>TCA355515068GHSRc.316T>A (p.Tyr106Asn)
3g.172448099C>ACA355515070GHSRc.315G>T (p.Gln105His)
dbSNP gnomAD v4
3g.172448099C=CA1420511770GHSRc.315G= (p.Gln105=)
3g.172448099C>GCA355515071GHSRc.315G>C (p.Gln105His)
3g.172448099C>TCA436966501GHSRc.315G>A (p.Gln105=)
3g.172448100T>ACA355515073GHSRc.314A>T (p.Gln105Leu)
3g.172448100T>CCA355515077GHSRc.314A>G (p.Gln105Arg)
3g.172448100T>GCA355515075GHSRc.314A>C (p.Gln105Pro)
3g.172448101G>ACA355515079GHSRc.313C>T (p.Gln105Ter)
3g.172448101G>CCA355515081GHSRc.313C>G (p.Gln105Glu)
3g.172448101G=CA1420511771GHSRc.313C= (p.Gln105=)
3g.172448101G>TCA355515083GHSRc.313C>A (p.Gln105Lys)
dbSNP gnomAD v3 gnomAD v4
3g.172448102C>ACA355515084GHSRc.312G>T (p.Trp104Cys)
3g.172448102C=CA1420511772GHSRc.312G= (p.Trp104=)
3g.172448102C>GCA355515086GHSRc.312G>C (p.Trp104Cys)
3g.172448102C>TCA355515087GHSRc.312G>A (p.Trp104Ter)
dbSNP gnomAD v2
3g.172448103C>ACA355515089GHSRc.311G>T (p.Trp104Leu)
3g.172448103C>GCA355515091GHSRc.311G>C (p.Trp104Ser)
3g.172448103C>TCA355515092GHSRc.311G>A (p.Trp104Ter)
3g.172448104A=CA1420511773GHSRc.310T= (p.Trp104=)
3g.172448104A>CCA355515095GHSRc.310T>G (p.Trp104Gly)
3g.172448104A>GCA355515097GHSRc.310T>C (p.Trp104Arg)
dbSNP
3g.172448104A>TCA355515098GHSRc.310T>A (p.Trp104Arg)
3g.172448105G>ACA436966507GHSRc.309C>T (p.Leu103=)
3g.172448105G>CCA436966509GHSRc.309C>G (p.Leu103=)
gnomAD v4
3g.172448105G>TCA436966510GHSRc.309C>A (p.Leu103=)
3g.172448106A>CCA355515100GHSRc.308T>G (p.Leu103Arg)
3g.172448106A>GCA355515103GHSRc.308T>C (p.Leu103Pro)
3g.172448106A>TCA355515101GHSRc.308T>A (p.Leu103His)
3g.172448107G>ACA355515104GHSRc.307C>T (p.Leu103Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448107G>CCA355515106GHSRc.307C>G (p.Leu103Val)
3g.172448107G=CA1420511774GHSRc.307C= (p.Leu103=)
3g.172448107G>TCA355515107GHSRc.307C>A (p.Leu103Ile)
3g.172448108G>ACA2706494GHSRc.306C>T (p.Arg102=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448108G>CCA436966515GHSRc.306C>G (p.Arg102=)
3g.172448108G=CA1420511775GHSRc.306C= (p.Arg102=)
3g.172448108G>TCA436966517GHSRc.306C>A (p.Arg102=)
3g.172448109C>ACA355515110GHSRc.305G>T (p.Arg102Leu)
3g.172448109C=CA1420511776GHSRc.305G= (p.Arg102=)
3g.172448109C>GCA355515112GHSRc.305G>C (p.Arg102Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448109C>TCA355515113GHSRc.305G>A (p.Arg102His)
dbSNP gnomAD v4
3g.172448110G>ACA355515115GHSRc.304C>T (p.Arg102Cys)
COSMIC COSMIC
3g.172448110G>CCA355515116GHSRc.304C>G (p.Arg102Gly)
3g.172448110G>TCA355515118GHSRc.304C>A (p.Arg102Ser)
3g.172448111A>CCA436966521GHSRc.303T>G (p.Val101=)
3g.172448111A>GCA436966522GHSRc.303T>C (p.Val101=)
gnomAD v4
3g.172448111A>TCA436966524GHSRc.303T>A (p.Val101=)
3g.172448112A>CCA355515120GHSRc.302T>G (p.Val101Gly)
3g.172448112A>GCA355515121GHSRc.302T>C (p.Val101Ala)
3g.172448112A>TCA355515123GHSRc.302T>A (p.Val101Asp)
3g.172448113C>ACA355515129GHSRc.301G>T (p.Val101Phe)
gnomAD v4
3g.172448113C>GCA355515125GHSRc.301G>C (p.Val101Leu)
3g.172448113C>TCA355515127GHSRc.301G>A (p.Val101Ile)
gnomAD v4
3g.172448114G>ACA436966531GHSRc.300C>T (p.Leu100=)
gnomAD v4
3g.172448114G>CCA436966533GHSRc.300C>G (p.Leu100=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448114G=CA1420511777GHSRc.300C= (p.Leu100=)
3g.172448114G>TCA436966532GHSRc.300C>A (p.Leu100=)
3g.172448115A=CA1420511778GHSRc.299T= (p.Leu100=)
3g.172448115A>CCA355515131GHSRc.299T>G (p.Leu100Arg)
3g.172448115A>GCA355515132GHSRc.299T>C (p.Leu100Pro)
dbSNP gnomAD v3 gnomAD v4
3g.172448115A>TCA355515134GHSRc.299T>A (p.Leu100His)
3g.172448116G>ACA355515136GHSRc.298C>T (p.Leu100Phe)
3g.172448116G>CCA355515137GHSRc.298C>G (p.Leu100Val)
3g.172448116G>TCA355515138GHSRc.298C>A (p.Leu100Ile)
3g.172448116_172448117delinsATCA2580610841GHSRc.297_298delinsAT (p.Asp99_Leu100delinsGluPhe)
3g.172448117G>ACA436966535GHSRc.297C>T (p.Asp99=)
3g.172448117G>CCA355515140GHSRc.297C>G (p.Asp99Glu)
3g.172448117G=CA1420511779GHSRc.297C= (p.Asp99=)
3g.172448117G>TCA2706495GHSRc.297C>A (p.Asp99Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448118T>ACA355515142GHSRc.296A>T (p.Asp99Val)
3g.172448118T>CCA355515144GHSRc.296A>G (p.Asp99Gly)
3g.172448118T>GCA355515145GHSRc.296A>C (p.Asp99Ala)
3g.172448119C>ACA355515148GHSRc.295G>T (p.Asp99Tyr)
3g.172448119C=CA1420511780GHSRc.295G= (p.Asp99=)
3g.172448119C>GCA355515151GHSRc.295G>C (p.Asp99His)
dbSNP
3g.172448119C>TCA355515149GHSRc.295G>A (p.Asp99Asn)
3g.172448120C>ACA436966536GHSRc.294G>T (p.Leu98=)
3g.172448120C>GCA436966537GHSRc.294G>C (p.Leu98=)
3g.172448120C>TCA436966538GHSRc.294G>A (p.Leu98=)
3g.172448121delCA2668560149GHSRc.293del (p.Leu98ArgfsTer?)
gnomAD v4
3g.172448121A>CCA355515153GHSRc.293T>G (p.Leu98Arg)
3g.172448121A>GCA355515157GHSRc.293T>C (p.Leu98Pro)
gnomAD v4 COSMIC COSMIC
3g.172448121A>TCA355515155GHSRc.293T>A (p.Leu98Gln)
3g.172448122G>ACA436966544GHSRc.292C>T (p.Leu98=)
3g.172448122G>CCA355515159GHSRc.292C>G (p.Leu98Val)
3g.172448122G>TCA355515161GHSRc.292C>A (p.Leu98Met)
3g.172448123G>ACA87785921GHSRc.291C>T (p.Pro97=)
dbSNP
3g.172448123G>CCA436966546GHSRc.291C>G (p.Pro97=)
3g.172448123G=CA1420511781GHSRc.291C= (p.Pro97=)
3g.172448123G>TCA436966547GHSRc.291C>A (p.Pro97=)
3g.172448124G>ACA355515163GHSRc.290C>T (p.Pro97Leu)
3g.172448124G>CCA355515164GHSRc.290C>G (p.Pro97Arg)
3g.172448124G>TCA355515166GHSRc.290C>A (p.Pro97His)
3g.172448125G>ACA355515172GHSRc.289C>T (p.Pro97Ser)
3g.172448125G>CCA355515170GHSRc.289C>G (p.Pro97Ala)
3g.172448125G>TCA355515168GHSRc.289C>A (p.Pro97Thr)
3g.172448126C>ACA355515174GHSRc.288G>T (p.Met96Ile)
3g.172448126C>GCA355515175GHSRc.288G>C (p.Met96Ile)
3g.172448126C>TCA355515177GHSRc.288G>A (p.Met96Ile)
3g.172448127A>CCA355515178GHSRc.287T>G (p.Met96Arg)
3g.172448127A>GCA355515180GHSRc.287T>C (p.Met96Thr)
3g.172448127A>TCA355515182GHSRc.287T>A (p.Met96Lys)
3g.172448128T>ACA355515184GHSRc.286A>T (p.Met96Leu)
gnomAD v4
3g.172448128T>CCA355515188GHSRc.286A>G (p.Met96Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448128T>GCA355515186GHSRc.286A>C (p.Met96Leu)
gnomAD v4
3g.172448128T=CA1420511782GHSRc.286A= (p.Met96=)
3g.172448129G>ACA436966557GHSRc.285C>T (p.Cys95=)
3g.172448129G>CCA355515190GHSRc.285C>G (p.Cys95Trp)
3g.172448129G>TCA355515191GHSRc.285C>A (p.Cys95Ter)
COSMIC COSMIC
3g.172448129_172448130delinsGCCA1420511783GHSRc.284_285delinsGC (p.Cys95=)
3g.172448130delCA1420511784GHSRc.284del (p.Cys95SerfsTer?)
dbSNP
3g.172448130C>ACA355515193GHSRc.284G>T (p.Cys95Phe)
3g.172448130C>GCA355515195GHSRc.284G>C (p.Cys95Ser)
3g.172448130C>TCA355515197GHSRc.284G>A (p.Cys95Tyr)
3g.172448131A>CCA355515200GHSRc.283T>G (p.Cys95Gly)
3g.172448131A>GCA355515201GHSRc.283T>C (p.Cys95Arg)
gnomAD v4
3g.172448131A>TCA355515205GHSRc.283T>A (p.Cys95Ser)
3g.172448132G>ACA436965413GHSRc.282C>T (p.Leu94=)
gnomAD v4
3g.172448132G>CCA436965415GHSRc.282C>G (p.Leu94=)
dbSNP gnomAD v2 gnomAD v4
3g.172448132G=CA1420511785GHSRc.282C= (p.Leu94=)
3g.172448132G>TCA436965416GHSRc.282C>A (p.Leu94=)
3g.172448133delCA2668560150GHSRc.281del (p.Leu94ProfsTer?)
gnomAD v4
3g.172448133A>CCA355515731GHSRc.281T>G (p.Leu94Arg)
3g.172448133A>GCA355515732GHSRc.281T>C (p.Leu94Pro)
3g.172448133A>TCA355515733GHSRc.281T>A (p.Leu94His)
3g.172448134G>ACA355515734GHSRc.280C>T (p.Leu94Phe)
gnomAD v4
3g.172448134G>CCA355515739GHSRc.280C>G (p.Leu94Val)
gnomAD v4
3g.172448134G>TCA355515737GHSRc.280C>A (p.Leu94Ile)
3g.172448135G>ACA436965420GHSRc.279C>T (p.Phe93=)
3g.172448135G>CCA355515742GHSRc.279C>G (p.Phe93Leu)
3g.172448135G>TCA355515749GHSRc.279C>A (p.Phe93Leu)
3g.172448136A=CA1420511786GHSRc.278T= (p.Phe93=)
3g.172448136A>CCA2706496GHSRc.278T>G (p.Phe93Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448136A>GCA355515754GHSRc.278T>C (p.Phe93Ser)
ClinVar
3g.172448136A>TCA355515756GHSRc.278T>A (p.Phe93Tyr)
3g.172448137A>CCA355515759GHSRc.277T>G (p.Phe93Val)
3g.172448137A>GCA355515761GHSRc.277T>C (p.Phe93Leu)
3g.172448137A>TCA355515764GHSRc.277T>A (p.Phe93Ile)
3g.172448138G>ACA436965421GHSRc.276C>T (p.Ile92=)
3g.172448138G>CCA355515766GHSRc.276C>G (p.Ile92Met)
3g.172448138G>TCA436965423GHSRc.276C>A (p.Ile92=)
3g.172448139A>CCA355515770GHSRc.275T>G (p.Ile92Ser)
3g.172448139A>GCA355515771GHSRc.275T>C (p.Ile92Thr)
3g.172448139A>TCA355515773GHSRc.275T>A (p.Ile92Asn)
3g.172448140T>ACA355515783GHSRc.274A>T (p.Ile92Phe)
3g.172448140T>CCA355515779GHSRc.274A>G (p.Ile92Val)
dbSNP
3g.172448140T>GCA355515781GHSRc.274A>C (p.Ile92Leu)
dbSNP gnomAD v3 gnomAD v4
3g.172448140T=CA1420511787GHSRc.274A= (p.Ile92=)
3g.172448141G>ACA436965425GHSRc.273C>T (p.Leu91=)
3g.172448141G>CCA436965427GHSRc.273C>G (p.Leu91=)
3g.172448141G>TCA436965429GHSRc.273C>A (p.Leu91=)
3g.172448142A>CCA355515784GHSRc.272T>G (p.Leu91Arg)
3g.172448142A>GCA355515786GHSRc.272T>C (p.Leu91Pro)
3g.172448142A>TCA355515789GHSRc.272T>A (p.Leu91His)
3g.172448143G>ACA2706497GHSRc.271C>T (p.Leu91Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448143G>CCA355515792GHSRc.271C>G (p.Leu91Val)
3g.172448143G=CA1420511788GHSRc.271C= (p.Leu91=)
3g.172448143G>TCA355515794GHSRc.271C>A (p.Leu91Ile)
3g.172448147_172448194delCA2668560151GHSRc.224_271del (p.Arg75_Leu90del)
gnomAD v4
3g.172448144C>ACA436965431GHSRc.270G>T (p.Leu90=)
COSMIC
3g.172448144C>GCA436965433GHSRc.270G>C (p.Leu90=)
3g.172448144C>TCA436965435GHSRc.270G>A (p.Leu90=)
dbSNP
3g.172448145A=CA1420511789GHSRc.269T= (p.Leu90=)
3g.172448145A>CCA355515796GHSRc.269T>G (p.Leu90Arg)
3g.172448145A>GCA355515799GHSRc.269T>C (p.Leu90Pro)
dbSNP gnomAD v3 gnomAD v4
3g.172448145A>TCA355515802GHSRc.269T>A (p.Leu90Gln)
3g.172448146G>ACA436965436GHSRc.268C>T (p.Leu90=)
3g.172448146G>CCA355515805GHSRc.268C>G (p.Leu90Val)
3g.172448146G>TCA355515806GHSRc.268C>A (p.Leu90Met)
gnomAD v4
3g.172448147A>CCA355515812GHSRc.267T>G (p.Asp89Glu)
3g.172448147A>GCA436965439GHSRc.267T>C (p.Asp89=)
3g.172448147A>TCA355515813GHSRc.267T>A (p.Asp89Glu)
3g.172448148T>ACA355515815GHSRc.266A>T (p.Asp89Val)
3g.172448148T>CCA355515819GHSRc.266A>G (p.Asp89Gly)
3g.172448148T>GCA355515817GHSRc.266A>C (p.Asp89Ala)
COSMIC COSMIC
3g.172448149C>ACA355515822GHSRc.265G>T (p.Asp89Tyr)
3g.172448149C>GCA355515825GHSRc.265G>C (p.Asp89His)
3g.172448149C>TCA355515826GHSRc.265G>A (p.Asp89Asn)
3g.172448150G>ACA436965444GHSRc.264C>T (p.Ser88=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.172448150G>CCA436965443GHSRc.264C>G (p.Ser88=)
3g.172448150G=CA1420511790GHSRc.264C= (p.Ser88=)
3g.172448150G>TCA436965441GHSRc.264C>A (p.Ser88=)
3g.172448151G>ACA355515828GHSRc.263C>T (p.Ser88Phe)
3g.172448151G>CCA355515829GHSRc.263C>G (p.Ser88Cys)
3g.172448151G=CA1420511792GHSRc.263C= (p.Ser88=)
3g.172448151G>TCA355515832GHSRc.263C>A (p.Ser88Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448151_172448154delinsGAGACA1420511791GHSRc.260_263delinsTCTC (p.Phe87=)
3g.172448152A=CA1420511793GHSRc.262T= (p.Ser88=)
3g.172448152A>CCA355515836GHSRc.262T>G (p.Ser88Ala)
3g.172448152A>GCA355515833GHSRc.262T>C (p.Ser88Pro)
3g.172448152A>TCA355515838GHSRc.262T>A (p.Ser88Thr)
dbSNP gnomAD v2 gnomAD v4
3g.172448154_172448156delCA2706498GHSRc.260_262del (p.Phe87del)
dbSNP ExAC gnomAD v2
3g.172448153delCA2577960385GHSRc.261del (p.Ser88ProfsTer?)
gnomAD v4
3g.172448153G>ACA436965446GHSRc.261C>T (p.Phe87=)
3g.172448153G>CCA355515840GHSRc.261C>G (p.Phe87Leu)
3g.172448153G>TCA355515842GHSRc.261C>A (p.Phe87Leu)
3g.172448154A>CCA355515846GHSRc.260T>G (p.Phe87Cys)
3g.172448154A>GCA355515848GHSRc.260T>C (p.Phe87Ser)
3g.172448154A>TCA355515851GHSRc.260T>A (p.Phe87Tyr)
3g.172448155A>CCA355515859GHSRc.259T>G (p.Phe87Val)
3g.172448155A>GCA355515855GHSRc.259T>C (p.Phe87Leu)
3g.172448155A>TCA355515857GHSRc.259T>A (p.Phe87Ile)
3g.172448156G>ACA436965450GHSRc.258C>T (p.Ala86=)
3g.172448156G>CCA436965451GHSRc.258C>G (p.Ala86=)
3g.172448156G>TCA436965452GHSRc.258C>A (p.Ala86=)
3g.172448157G>ACA2706499GHSRc.257C>T (p.Ala86Val)
dbSNP ExAC gnomAD v2
3g.172448157G>CCA355515862GHSRc.257C>G (p.Ala86Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448157G=CA1420511794GHSRc.257C= (p.Ala86=)
3g.172448157G>TCA355515864GHSRc.257C>A (p.Ala86Asp)
3g.172448158C>ACA355515866GHSRc.256G>T (p.Ala86Ser)
3g.172448158C>GCA355515867GHSRc.256G>C (p.Ala86Pro)
3g.172448158C>TCA355515869GHSRc.256G>A (p.Ala86Thr)
3g.172448159C>ACA355515877GHSRc.255G>T (p.Met85Ile)
COSMIC COSMIC
3g.172448159C=CA1420511795GHSRc.255G= (p.Met85=)
3g.172448159C>GCA355515879GHSRc.255G>C (p.Met85Ile)
3g.172448159C>TCA87785961GHSRc.255G>A (p.Met85Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448160A>CCA355515882GHSRc.254T>G (p.Met85Arg)
3g.172448160A>GCA355515883GHSRc.254T>C (p.Met85Thr)
3g.172448160A>TCA355515885GHSRc.254T>A (p.Met85Lys)
3g.172448161T>ACA355515888GHSRc.253A>T (p.Met85Leu)
3g.172448161T>CCA355515890GHSRc.253A>G (p.Met85Val)
dbSNP gnomAD v4
3g.172448161T>GCA355515893GHSRc.253A>C (p.Met85Leu)
3g.172448161T=CA1420511796GHSRc.253A= (p.Met85=)
3g.172448162G>ACA2706500GHSRc.252C>T (p.Ser84=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448162G>CCA355515897GHSRc.252C>G (p.Ser84Arg)
3g.172448162G=CA1420511797GHSRc.252C= (p.Ser84=)
3g.172448162G>TCA355515901GHSRc.252C>A (p.Ser84Arg)
3g.172448163C>ACA355515903GHSRc.251G>T (p.Ser84Ile)
3g.172448163C>GCA355515904GHSRc.251G>C (p.Ser84Thr)
3g.172448163C>TCA355515906GHSRc.251G>A (p.Ser84Asn)
dbSNP
3g.172448164T>ACA355515910GHSRc.250A>T (p.Ser84Cys)
3g.172448164T>CCA355515911GHSRc.250A>G (p.Ser84Gly)
3g.172448164T>GCA355515907GHSRc.250A>C (p.Ser84Arg)
3g.172448165G>ACA436965457GHSRc.249C>T (p.Ser83=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.172448165G>CCA436965458GHSRc.249C>G (p.Ser83=)
3g.172448165G=CA1420511798GHSRc.249C= (p.Ser83=)
3g.172448165G>TCA436965459GHSRc.249C>A (p.Ser83=)
3g.172448166G>ACA355515913GHSRc.248C>T (p.Ser83Phe)
3g.172448166G>CCA355515914GHSRc.248C>G (p.Ser83Cys)
3g.172448166G>TCA355515918GHSRc.248C>A (p.Ser83Tyr)
3g.172448167A=CA1420511799GHSRc.247T= (p.Ser83=)
3g.172448167A>CCA355515920GHSRc.247T>G (p.Ser83Ala)
dbSNP
3g.172448167A>GCA355515922GHSRc.247T>C (p.Ser83Pro)
3g.172448167A>TCA355515924GHSRc.247T>A (p.Ser83Thr)
3g.172448168C>ACA436965461GHSRc.246G>T (p.Leu82=)
3g.172448168C>GCA436965462GHSRc.246G>C (p.Leu82=)
3g.172448168C>TCA436965463GHSRc.246G>A (p.Leu82=)
gnomAD v4
3g.172448169A>CCA355515927GHSRc.245T>G (p.Leu82Arg)
3g.172448169A>GCA355515937GHSRc.245T>C (p.Leu82Pro)
3g.172448169A>TCA355515930GHSRc.245T>A (p.Leu82Gln)
3g.172448170G>ACA436965465GHSRc.244C>T (p.Leu82=)
3g.172448170G>CCA355515940GHSRc.244C>G (p.Leu82Val)
gnomAD v4
3g.172448170G>TCA355515941GHSRc.244C>A (p.Leu82Met)
3g.172448171G>ACA436965467GHSRc.243C>T (p.Tyr81=)
ClinVar gnomAD v4
3g.172448171G>CCA355515944GHSRc.243C>G (p.Tyr81Ter)
3g.172448171G>TCA355515946GHSRc.243C>A (p.Tyr81Ter)
gnomAD v4
3g.172448172T>ACA355515952GHSRc.242A>T (p.Tyr81Phe)
3g.172448172T>CCA355515951GHSRc.242A>G (p.Tyr81Cys)
gnomAD v4
3g.172448172T>GCA355515949GHSRc.242A>C (p.Tyr81Ser)
3g.172448173A>CCA355515955GHSRc.241T>G (p.Tyr81Asp)
3g.172448173A>GCA355515958GHSRc.241T>C (p.Tyr81His)
gnomAD v4
3g.172448173A>TCA355515957GHSRc.241T>A (p.Tyr81Asn)
3g.172448174G>ACA436965471GHSRc.240C>T (p.Leu80=)
3g.172448174G>CCA436965472GHSRc.240C>G (p.Leu80=)
3g.172448174G>TCA436965473GHSRc.240C>A (p.Leu80=)
3g.172448175A=CA1420511800GHSRc.239T= (p.Leu80=)
3g.172448175A>CCA355515962GHSRc.239T>G (p.Leu80Arg)
3g.172448175A>GCA355515967GHSRc.239T>C (p.Leu80Pro)
3g.172448175A>TCA355515964GHSRc.239T>A (p.Leu80His)
dbSNP gnomAD v2 gnomAD v4
3g.172448176G>ACA355515970GHSRc.238C>T (p.Leu80Phe)
dbSNP gnomAD v2 gnomAD v4
3g.172448176G>CCA355515972GHSRc.238C>G (p.Leu80Val)
ClinVar
3g.172448176G=CA1420511801GHSRc.238C= (p.Leu80=)
3g.172448176G>TCA355515974GHSRc.238C>A (p.Leu80Ile)
3g.172448177G>ACA436965477GHSRc.237C>T (p.Asn79=)
3g.172448177G>CCA355515978GHSRc.237C>G (p.Asn79Lys)
3g.172448177G>TCA355515980GHSRc.237C>A (p.Asn79Lys)
3g.172448178T>ACA355515982GHSRc.236A>T (p.Asn79Ile)
gnomAD v4
3g.172448178T>CCA2706501GHSRc.236A>G (p.Asn79Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.172448178T>GCA355515983GHSRc.236A>C (p.Asn79Thr)
3g.172448178T=CA1420511802GHSRc.236A= (p.Asn79=)
3g.172448179T>ACA355515984GHSRc.235A>T (p.Asn79Tyr)
3g.172448179T>CCA355515985GHSRc.235A>G (p.Asn79Asp)
dbSNP gnomAD v2 gnomAD v4
3g.172448179T>GCA355515986GHSRc.235A>C (p.Asn79His)
gnomAD v4
3g.172448179T=CA1420511803GHSRc.235A= (p.Asn79=)
3g.172448180G>ACA436965483GHSRc.234C>T (p.Thr78=)
3g.172448180G>CCA436965482GHSRc.234C>G (p.Thr78=)
3g.172448180G>TCA436965481GHSRc.234C>A (p.Thr78=)
3g.172448181G>ACA355515991GHSRc.233C>T (p.Thr78Ile)
3g.172448181G>CCA355515989GHSRc.233C>G (p.Thr78Ser)
3g.172448181G=CA1420511804GHSRc.233C= (p.Thr78=)
3g.172448181G>TCA87785972GHSRc.233C>A (p.Thr78Asn)
ClinVar dbSNP gnomAD v4
3g.172448182T>ACA355515993GHSRc.232A>T (p.Thr78Ser)
3g.172448182T>CCA355516000GHSRc.232A>G (p.Thr78Ala)
dbSNP gnomAD v3 gnomAD v4
3g.172448182T>GCA2706502GHSRc.232A>C (p.Thr78Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448182T=CA1420511805GHSRc.232A= (p.Thr78=)
3g.172448183G>ACA436965484GHSRc.231C>T (p.Thr77=)
3g.172448183G>CCA2706503GHSRc.231C>G (p.Thr77=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448183G=CA1420511806GHSRc.231C= (p.Thr77=)
3g.172448183G>TCA436965485GHSRc.231C>A (p.Thr77=)
3g.172448184G>ACA355516006GHSRc.230C>T (p.Thr77Ile)
3g.172448184G>CCA355516008GHSRc.230C>G (p.Thr77Ser)
3g.172448184G>TCA355516010GHSRc.230C>A (p.Thr77Asn)
3g.172448185T>ACA355516012GHSRc.229A>T (p.Thr77Ser)
dbSNP
3g.172448185T>CCA355516013GHSRc.229A>G (p.Thr77Ala)
gnomAD v4
3g.172448185T>GCA2706504GHSRc.229A>C (p.Thr77Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448185T=CA1420511807GHSRc.229A= (p.Thr77=)
3g.172448186G>ACA2706505GHSRc.228C>T (p.Thr76=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448186G>CCA436965487GHSRc.228C>G (p.Thr76=)
3g.172448186G=CA1420511808GHSRc.228C= (p.Thr76=)
3g.172448186G>TCA436965488GHSRc.228C>A (p.Thr76=)
3g.172448187G>ACA355516027GHSRc.227C>T (p.Thr76Ile)
gnomAD v4
3g.172448187G>CCA355516025GHSRc.227C>G (p.Thr76Ser)
3g.172448187G>TCA355516016GHSRc.227C>A (p.Thr76Asn)
3g.172448188T>ACA355516030GHSRc.226A>T (p.Thr76Ser)
3g.172448188T>CCA355516031GHSRc.226A>G (p.Thr76Ala)
3g.172448188T>GCA355516037GHSRc.226A>C (p.Thr76Pro)
dbSNP
3g.172448188T=CA1420511809GHSRc.226A= (p.Thr76=)
3g.172448189G>ACA436965492GHSRc.225C>T (p.Arg75=)
dbSNP gnomAD v3 gnomAD v4
3g.172448189G>CCA436965493GHSRc.225C>G (p.Arg75=)
3g.172448189G=CA1420511810GHSRc.225C= (p.Arg75=)
3g.172448189G>TCA436965494GHSRc.225C>A (p.Arg75=)
3g.172448190C>ACA355516039GHSRc.224G>T (p.Arg75Leu)
3g.172448190C>GCA355516042GHSRc.224G>C (p.Arg75Pro)
3g.172448190C>TCA355516044GHSRc.224G>A (p.Arg75His)
gnomAD v4 COSMIC COSMIC
3g.172448191G>ACA355516046GHSRc.223C>T (p.Arg75Cys)
dbSNP
3g.172448191G>CCA355516050GHSRc.223C>G (p.Arg75Gly)
3g.172448191G=CA1420511811GHSRc.223C= (p.Arg75=)
3g.172448191G>TCA355516051GHSRc.223C>A (p.Arg75Ser)
3g.172448192C>ACA436965498GHSRc.222G>T (p.Leu74=)
3g.172448192C>GCA436965499GHSRc.222G>C (p.Leu74=)
3g.172448192C>TCA436965500GHSRc.222G>A (p.Leu74=)
3g.172448193A=CA1420511812GHSRc.221T= (p.Leu74=)
3g.172448193A>CCA355516057GHSRc.221T>G (p.Leu74Arg)
3g.172448193A>GCA355516059GHSRc.221T>C (p.Leu74Pro)
3g.172448193A>TCA355516061GHSRc.221T>A (p.Leu74Gln)
dbSNP gnomAD v2 gnomAD v4
3g.172448194G>ACA436965501GHSRc.220C>T (p.Leu74=)
3g.172448194G>CCA355516063GHSRc.220C>G (p.Leu74Val)
3g.172448194G>TCA355516066GHSRc.220C>A (p.Leu74Met)
3g.172448194_172448202delinsGCTCGCGGACA1420511813GHSRc.212_220delinsTCCGCGAGC (p.Phe71=)
3g.172448195C>ACA87785997GHSRc.219G>T (p.Glu73Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.172448195C=CA1420511814GHSRc.219G= (p.Glu73=)
3g.172448195C>GCA355516072GHSRc.219G>C (p.Glu73Asp)
3g.172448195C>TCA436965502GHSRc.219G>A (p.Glu73=)
3g.172448195_172448202delCA87785993GHSRc.212_219del (p.Phe71SerfsTer?)
dbSNP
3g.172448196T>ACA355516075GHSRc.218A>T (p.Glu73Val)
3g.172448196T>CCA87786001GHSRc.218A>G (p.Glu73Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448196T>GCA355516081GHSRc.218A>C (p.Glu73Ala)
3g.172448196T=CA1420511815GHSRc.218A= (p.Glu73=)
3g.172448197C>ACA355516084GHSRc.217G>T (p.Glu73Ter)
3g.172448197C=CA1420511816GHSRc.217G= (p.Glu73=)
3g.172448197C>GCA87786003GHSRc.217G>C (p.Glu73Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448197C>TCA355516088GHSRc.217G>A (p.Glu73Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC

Number of alleles fetched