Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.44942147T>ACA346798762SIX3c.43T>A (p.Leu15Met)
2g.44942147T>CCA426045585SIX3c.43T>C (p.Leu15=)
ClinVar dbSNP gnomAD v4
2g.44942147T>GCA346798761SIX3c.43T>G (p.Leu15Val)
2g.44942147T=CA2494534877SIX3c.43T= (p.Leu15=)
2g.44942148T>ACA346798763SIX3c.44T>A (p.Leu15Ter)
2g.44942148T>CCA346798764SIX3c.44T>C (p.Leu15Ser)
2g.44942148T>GCA346798765SIX3c.44T>G (p.Leu15Trp)
2g.44942149G>ACA426045586SIX3c.45G>A (p.Leu15=)
2g.44942149G>CCA346798766SIX3c.45G>C (p.Leu15Phe)
2g.44942149G=CA2494534878SIX3c.45G= (p.Leu15=)
2g.44942149G>TCA1642245SIX3c.45G>T (p.Leu15Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942150T>ACA346798767SIX3c.46T>A (p.Leu16Met)
2g.44942150T>CCA426045587SIX3c.46T>C (p.Leu16=)
2g.44942150T>GCA346798768SIX3c.46T>G (p.Leu16Val)
2g.44942151T>ACA346798769SIX3c.47T>A (p.Leu16Ter)
2g.44942151T>CCA346798770SIX3c.47T>C (p.Leu16Ser)
2g.44942151T>GCA346798771SIX3c.47T>G (p.Leu16Trp)
2g.44942152G>ACA426045588SIX3c.48G>A (p.Leu16=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942152G>CCA346798772SIX3c.48G>C (p.Leu16Phe)
2g.44942152G=CA2494534879SIX3c.48G= (p.Leu16=)
2g.44942152G>TCA346798773SIX3c.48G>T (p.Leu16Phe)
2g.44942153C>ACA346798775SIX3c.49C>A (p.Pro17Thr)
2g.44942153C>GCA346798776SIX3c.49C>G (p.Pro17Ala)
2g.44942153C>TCA346798774SIX3c.49C>T (p.Pro17Ser)
2g.44942154C>ACA346798777SIX3c.50C>A (p.Pro17Gln)
2g.44942154C>GCA346798778SIX3c.50C>G (p.Pro17Arg)
2g.44942154C>TCA346798779SIX3c.50C>T (p.Pro17Leu)
2g.44942155A>CCA426045589SIX3c.51A>C (p.Pro17=)
2g.44942155A>GCA426045590SIX3c.51A>G (p.Pro17=)
2g.44942155A>TCA426045591SIX3c.51A>T (p.Pro17=)
2g.44942156A=CA2494534880SIX3c.52A= (p.Asn18=)
2g.44942156A>CCA346798780SIX3c.52A>C (p.Asn18His)
2g.44942156A>GCA47011033SIX3c.52A>G (p.Asn18Asp)
dbSNP
2g.44942156A>TCA346798781SIX3c.52A>T (p.Asn18Tyr)
ClinVar dbSNP
2g.44942157A>CCA346798784SIX3c.53A>C (p.Asn18Thr)
2g.44942157A>GCA346798782SIX3c.53A>G (p.Asn18Ser)
2g.44942157A>TCA346798783SIX3c.53A>T (p.Asn18Ile)
2g.44942158C>ACA346798785SIX3c.54C>A (p.Asn18Lys)
COSMIC
2g.44942158C=CA2494534881SIX3c.54C= (p.Asn18=)
2g.44942158C>GCA47011034SIX3c.54C>G (p.Asn18Lys)
dbSNP gnomAD v3 gnomAD v4
2g.44942158C>TCA426045592SIX3c.54C>T (p.Asn18=)
dbSNP gnomAD v2 gnomAD v4
2g.44942159T>ACA346798786SIX3c.55T>A (p.Phe19Ile)
2g.44942159T>CCA346798787SIX3c.55T>C (p.Phe19Leu)
gnomAD v4
2g.44942159T>GCA346798788SIX3c.55T>G (p.Phe19Val)
2g.44942160T>ACA346798791SIX3c.56T>A (p.Phe19Tyr)
2g.44942160T>CCA346798789SIX3c.56T>C (p.Phe19Ser)
2g.44942160T>GCA346798790SIX3c.56T>G (p.Phe19Cys)
2g.44942161C>ACA346798792SIX3c.57C>A (p.Phe19Leu)
gnomAD v4
2g.44942161C=CA2494534884SIX3c.57C= (p.Phe19=)
2g.44942161C>GCA346798793SIX3c.57C>G (p.Phe19Leu)
dbSNP gnomAD v4
2g.44942161C>TCA426045593SIX3c.57C>T (p.Phe19=)
ClinVar dbSNP
2g.44942162G>ACA346798794SIX3c.58G>A (p.Ala20Thr)
2g.44942162G>CCA346798795SIX3c.58G>C (p.Ala20Pro)
2g.44942162G=CA2494534893SIX3c.58G= (p.Ala20=)
2g.44942162G>TCA1642246SIX3c.58G>T (p.Ala20Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942163C>ACA346798796SIX3c.59C>A (p.Ala20Asp)
2g.44942163C>GCA346798797SIX3c.59C>G (p.Ala20Gly)
gnomAD v4
2g.44942163C>TCA346798798SIX3c.59C>T (p.Ala20Val)
2g.44942164C>ACA1642247SIX3c.60C>A (p.Ala20=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942164C=CA2494534897SIX3c.60C= (p.Ala20=)
2g.44942164C>GCA426045594SIX3c.60C>G (p.Ala20=)
2g.44942164C>TCA1642248SIX3c.60C>T (p.Ala20=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942165_44942173delCA2658869256SIX3c.61_69del (p.Asp21_His23del)
gnomAD v4
2g.44942165G>ACA346798799SIX3c.61G>A (p.Asp21Asn)
ClinVar COSMIC
2g.44942165G>CCA346798800SIX3c.61G>C (p.Asp21His)
2g.44942165G=CA2494534899SIX3c.61G= (p.Asp21=)
2g.44942165G>TCA1642249SIX3c.61G>T (p.Asp21Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942166A>CCA346798801SIX3c.62A>C (p.Asp21Ala)
2g.44942166A>GCA346798803SIX3c.62A>G (p.Asp21Gly)
2g.44942166A>TCA346798802SIX3c.62A>T (p.Asp21Val)
2g.44942167T>ACA346798804SIX3c.63T>A (p.Asp21Glu)
gnomAD v4
2g.44942167T>CCA426045596SIX3c.63T>C (p.Asp21=)
2g.44942167T>GCA346798805SIX3c.63T>G (p.Asp21Glu)
2g.44942168T>ACA346798806SIX3c.64T>A (p.Ser22Thr)
2g.44942168T>CCA346798807SIX3c.64T>C (p.Ser22Pro)
2g.44942168T>GCA346798808SIX3c.64T>G (p.Ser22Ala)
2g.44942169C>ACA346798809SIX3c.65C>A (p.Ser22Tyr)
2g.44942169C>GCA346798810SIX3c.65C>G (p.Ser22Cys)
2g.44942169C>TCA346798811SIX3c.65C>T (p.Ser22Phe)
gnomAD v4
2g.44942170T>ACA426045597SIX3c.66T>A (p.Ser22=)
2g.44942170T>CCA426045598SIX3c.66T>C (p.Ser22=)
gnomAD v4
2g.44942170T>GCA426045599SIX3c.66T>G (p.Ser22=)
dbSNP gnomAD v2 gnomAD v4
2g.44942170T=CA2494534901SIX3c.66T= (p.Ser22=)
2g.44942171C>ACA346798812SIX3c.67C>A (p.His23Asn)
gnomAD v4
2g.44942171C>GCA346798813SIX3c.67C>G (p.His23Asp)
2g.44942171C>TCA346798814SIX3c.67C>T (p.His23Tyr)
2g.44942172A>CCA346798815SIX3c.68A>C (p.His23Pro)
2g.44942172A>GCA346798816SIX3c.68A>G (p.His23Arg)
2g.44942172A>TCA346798817SIX3c.68A>T (p.His23Leu)
2g.44942173C>ACA346798818SIX3c.69C>A (p.His23Gln)
2g.44942173C=CA2494534903SIX3c.69C= (p.His23=)
2g.44942173C>GCA346798819SIX3c.69C>G (p.His23Gln)
2g.44942173C>TCA426045600SIX3c.69C>T (p.His23=)
dbSNP gnomAD v4
2g.44942174C>ACA346798820SIX3c.70C>A (p.His24Asn)
2g.44942174C>GCA346798821SIX3c.70C>G (p.His24Asp)
gnomAD v4
2g.44942174C>TCA346798822SIX3c.70C>T (p.His24Tyr)
2g.44942175A>CCA346798823SIX3c.71A>C (p.His24Pro)
2g.44942175A>GCA346798824SIX3c.71A>G (p.His24Arg)
2g.44942175A>TCA346798825SIX3c.71A>T (p.His24Leu)
2g.44942176C>ACA346798826SIX3c.72C>A (p.His24Gln)
2g.44942176C=CA2494534905SIX3c.72C= (p.His24=)
2g.44942176C>GCA47011035SIX3c.72C>G (p.His24Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942176C>TCA426045601SIX3c.72C>T (p.His24=)
dbSNP gnomAD v2 gnomAD v4
2g.44942177C>ACA346798827SIX3c.73C>A (p.Arg25Ser)
gnomAD v4
2g.44942177C=CA2494534908SIX3c.73C= (p.Arg25=)
2g.44942177C>GCA346798828SIX3c.73C>G (p.Arg25Gly)
2g.44942177C>TCA346798829SIX3c.73C>T (p.Arg25Cys)
dbSNP gnomAD v3 gnomAD v4
2g.44942178G>ACA346798832SIX3c.74G>A (p.Arg25His)
dbSNP gnomAD v3 gnomAD v4
2g.44942178G>CCA346798831SIX3c.74G>C (p.Arg25Pro)
gnomAD v4
2g.44942178G=CA2494534909SIX3c.74G= (p.Arg25=)
2g.44942178G>TCA346798830SIX3c.74G>T (p.Arg25Leu)
2g.44942179C>ACA426045602SIX3c.75C>A (p.Arg25=)
gnomAD v4
2g.44942179C=CA2494534911SIX3c.75C= (p.Arg25=)
2g.44942179C>GCA426045603SIX3c.75C>G (p.Arg25=)
2g.44942179C>TCA1642250SIX3c.75C>T (p.Arg25=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942180T>ACA346798834SIX3c.76T>A (p.Ser26Thr)
2g.44942180T>CCA346798833SIX3c.76T>C (p.Ser26Pro)
2g.44942180T>GCA346798835SIX3c.76T>G (p.Ser26Ala)
2g.44942181C>ACA346798836SIX3c.77C>A (p.Ser26Tyr)
2g.44942181C=CA2494534913SIX3c.77C= (p.Ser26=)
2g.44942181C>GCA346798838SIX3c.77C>G (p.Ser26Cys)
2g.44942181C>TCA346798837SIX3c.77C>T (p.Ser26Phe)
dbSNP
2g.44942182C>ACA426045604SIX3c.78C>A (p.Ser26=)
2g.44942182C>GCA426045605SIX3c.78C>G (p.Ser26=)
2g.44942182C>TCA426045606SIX3c.78C>T (p.Ser26=)
gnomAD v4
2g.44942183A=CA2494534914SIX3c.79A= (p.Ile27=)
2g.44942183A>CCA346798839SIX3c.79A>C (p.Ile27Leu)
2g.44942183A>GCA1642251SIX3c.79A>G (p.Ile27Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942183A>TCA346798840SIX3c.79A>T (p.Ile27Leu)
2g.44942184T>ACA346798841SIX3c.80T>A (p.Ile27Lys)
2g.44942184T>CCA346798842SIX3c.80T>C (p.Ile27Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942184T>GCA346798843SIX3c.80T>G (p.Ile27Arg)
2g.44942184T=CA2494534917SIX3c.80T= (p.Ile27=)
2g.44942185A=CA2494534919SIX3c.81A= (p.Ile27=)
2g.44942185A>CCA426045607SIX3c.81A>C (p.Ile27=)
2g.44942185A>GCA1642252SIX3c.81A>G (p.Ile27Met)
dbSNP ExAC gnomAD v2
2g.44942185A>TCA426045608SIX3c.81A>T (p.Ile27=)
2g.44942186C>ACA346798844SIX3c.82C>A (p.Leu28Ile)
dbSNP
2g.44942186C=CA2494534920SIX3c.82C= (p.Leu28=)
2g.44942186C>GCA346798845SIX3c.82C>G (p.Leu28Val)
2g.44942186C>TCA346798846SIX3c.82C>T (p.Leu28Phe)
2g.44942187T>ACA346798847SIX3c.83T>A (p.Leu28His)
2g.44942187T>CCA346798848SIX3c.83T>C (p.Leu28Pro)
2g.44942187T>GCA346798849SIX3c.83T>G (p.Leu28Arg)
2g.44942188T>ACA426045609SIX3c.84T>A (p.Leu28=)
2g.44942188T>CCA426045610SIX3c.84T>C (p.Leu28=)
2g.44942188T>GCA426045611SIX3c.84T>G (p.Leu28=)
2g.44942189C>ACA346798850SIX3c.85C>A (p.Leu29Met)
2g.44942189C=CA2494534922SIX3c.85C= (p.Leu29=)
2g.44942189C>GCA346798851SIX3c.85C>G (p.Leu29Val)
2g.44942189C>TCA1642253SIX3c.85C>T (p.Leu29=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.44942190T>ACA346798852SIX3c.86T>A (p.Leu29Gln)
2g.44942190T>CCA1642254SIX3c.86T>C (p.Leu29Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942190T>GCA346798853SIX3c.86T>G (p.Leu29Arg)
2g.44942190T=CA2494534923SIX3c.86T= (p.Leu29=)
2g.44942191G>ACA426045612SIX3c.87G>A (p.Leu29=)
2g.44942191G>CCA426045613SIX3c.87G>C (p.Leu29=)
2g.44942191G>TCA426045614SIX3c.87G>T (p.Leu29=)
2g.44942192G>ACA346798854SIX3c.88G>A (p.Ala30Thr)
2g.44942192G>CCA346798855SIX3c.88G>C (p.Ala30Pro)
gnomAD v4
2g.44942192G>TCA346798856SIX3c.88G>T (p.Ala30Ser)
gnomAD v4
2g.44942193C>ACA346798857SIX3c.89C>A (p.Ala30Glu)
2g.44942193C>GCA346798858SIX3c.89C>G (p.Ala30Gly)
2g.44942193C>TCA346798859SIX3c.89C>T (p.Ala30Val)
gnomAD v4
2g.44942194G>ACA426045615SIX3c.90G>A (p.Ala30=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942194G>CCA426045616SIX3c.90G>C (p.Ala30=)
2g.44942194G=CA2494534927SIX3c.90G= (p.Ala30=)
2g.44942194G>TCA344815SIX3c.90G>T (p.Ala30=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942195A=CA2494534929SIX3c.91A= (p.Ser31=)
2g.44942195A>CCA47011036SIX3c.91A>C (p.Ser31Arg)
dbSNP gnomAD v3 gnomAD v4
2g.44942195A>GCA346798861SIX3c.91A>G (p.Ser31Gly)
2g.44942195A>TCA346798860SIX3c.91A>T (p.Ser31Cys)
2g.44942196G>ACA346798862SIX3c.92G>A (p.Ser31Asn)
2g.44942196G>CCA346798863SIX3c.92G>C (p.Ser31Thr)
ClinVar dbSNP
2g.44942196G=CA2494534931SIX3c.92G= (p.Ser31=)
2g.44942196G>TCA346798864SIX3c.92G>T (p.Ser31Ile)
gnomAD v4
2g.44942197T>ACA346798865SIX3c.93T>A (p.Ser31Arg)
2g.44942197T>CCA426045617SIX3c.93T>C (p.Ser31=)
2g.44942197T>GCA346798866SIX3c.93T>G (p.Ser31Arg)
2g.44942197T=CA2494534933SIX3c.93T= (p.Ser31=)
2g.44942197dupCA532706760SIX3c.93dup (p.Ser32Ter)
dbSNP gnomAD v2 gnomAD v4
2g.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGCCA2494534932SIX3c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC (p.Ser31=)
2g.44942198A>CCA346798867SIX3c.94A>C (p.Ser32Arg)
gnomAD v4
2g.44942198A>GCA346798868SIX3c.94A>G (p.Ser32Gly)
2g.44942198A>TCA346798869SIX3c.94A>T (p.Ser32Cys)
2g.44942198_44942200dupCA769176905SIX3c.94_96dup (p.Ser32_Gly33insSer)
dbSNP
2g.44942230_44942277dupCA2597075087SIX3c.126_173dup (p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGlyAlaGlyGlyGlyGly)
gnomAD v3 gnomAD v4
2g.44942230_44942277delCA1642255SIX3c.126_173del (p.Gly43_Gly58del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942199G>ACA346798870SIX3c.95G>A (p.Ser32Asn)
COSMIC
2g.44942199G>CCA346798871SIX3c.95G>C (p.Ser32Thr)
2g.44942199G>TCA346798872SIX3c.95G>T (p.Ser32Ile)
2g.44942206_44942208delCA2658869332SIX3c.102_104del (p.Gly35del)
gnomAD v4
2g.44942209_44942232dupCA2658869331SIX3c.105_128dup (p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly)
gnomAD v4
2g.44942209_44942232delCA2658869333SIX3c.105_128del (p.Asn36_Gly43del)
gnomAD v4
2g.44942200C>ACA346798874SIX3c.96C>A (p.Ser32Arg)
gnomAD v4
2g.44942200C=CA2494534935SIX3c.96C= (p.Ser32=)
2g.44942200C>GCA346798873SIX3c.96C>G (p.Ser32Arg)
2g.44942200C>TCA1642256SIX3c.96C>T (p.Ser32=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.44942201G>ACA1642257SIX3c.97G>A (p.Gly33Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.44942201G>CCA346798875SIX3c.97G>C (p.Gly33Arg)
2g.44942201G=CA2494534939SIX3c.97G= (p.Gly33=)
2g.44942201G>TCA346798876SIX3c.97G>T (p.Gly33Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942202G>ACA1642258SIX3c.98G>A (p.Gly33Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942202G>CCA346798877SIX3c.98G>C (p.Gly33Ala)
2g.44942202G=CA2494534940SIX3c.98G= (p.Gly33=)
2g.44942202G>TCA346798878SIX3c.98G>T (p.Gly33Val)
2g.44942203C>ACA426045618SIX3c.99C>A (p.Gly33=)
dbSNP gnomAD v2
2g.44942203C=CA2494534941SIX3c.99C= (p.Gly33=)
2g.44942203C>GCA426045619SIX3c.99C>G (p.Gly33=)
2g.44942203C>TCA426045620SIX3c.99C>T (p.Gly33=)
ClinVar
2g.44942204G>ACA346798879SIX3c.100G>A (p.Gly34Ser)
2g.44942204G>CCA346798880SIX3c.100G>C (p.Gly34Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.44942204G=CA2494534942SIX3c.100G= (p.Gly34=)
2g.44942204G>TCA346798881SIX3c.100G>T (p.Gly34Cys)
gnomAD v4 COSMIC
2g.44942205G>ACA346798882SIX3c.101G>A (p.Gly34Asp)
dbSNP gnomAD v3 gnomAD v4
2g.44942205G>CCA346798883SIX3c.101G>C (p.Gly34Ala)
2g.44942205G=CA2494534944SIX3c.101G= (p.Gly34=)
2g.44942205G>TCA346798884SIX3c.101G>T (p.Gly34Val)
dbSNP
2g.44942206C>ACA426045621SIX3c.102C>A (p.Gly34=)
dbSNP gnomAD v3 gnomAD v4
2g.44942206C=CA2494534946SIX3c.102C= (p.Gly34=)
2g.44942206C>GCA426045622SIX3c.102C>G (p.Gly34=)
dbSNP
2g.44942206C>TCA426045623SIX3c.102C>T (p.Gly34=)
dbSNP gnomAD v3 gnomAD v4
2g.44942207G>ACA47011037SIX3c.103G>A (p.Gly35Arg)
dbSNP gnomAD v2 gnomAD v4
2g.44942207G>CCA47011038SIX3c.103G>C (p.Gly35Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942207G=CA2494534948SIX3c.103G= (p.Gly35=)
2g.44942207G>TCA346798885SIX3c.103G>T (p.Gly35Trp)
2g.44942208G>ACA346798886SIX3c.104G>A (p.Gly35Glu)
gnomAD v4
2g.44942208G>CCA346798888SIX3c.104G>C (p.Gly35Ala)
2g.44942208G>TCA346798887SIX3c.104G>T (p.Gly35Val)
dbSNP gnomAD v4
2g.44942209G>ACA426045624SIX3c.105G>A (p.Gly35=)
gnomAD v4
2g.44942209G>CCA426045625SIX3c.105G>C (p.Gly35=)
gnomAD v4
2g.44942209G=CA2494534951SIX3c.105G= (p.Gly35=)
2g.44942209G>TCA1642259SIX3c.105G>T (p.Gly35=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942209_44942211delCA2576956285SIX3c.105_107del (p.Asn36del)
2g.44942210A>CCA346798889SIX3c.106A>C (p.Asn36His)
2g.44942210A>GCA346798890SIX3c.106A>G (p.Asn36Asp)
gnomAD v4
2g.44942210A>TCA346798891SIX3c.106A>T (p.Asn36Tyr)
2g.44942211A>CCA346798892SIX3c.107A>C (p.Asn36Thr)
2g.44942211A>GCA346798893SIX3c.107A>G (p.Asn36Ser)
2g.44942211A>TCA346798894SIX3c.107A>T (p.Asn36Ile)
2g.44942211_44942229delinsACGGTGCGGGAGGCGGCGGCA2494534953SIX3c.107_125delinsACGGTGCGGGAGGCGGCGG (p.Asn36=)
2g.44942212C>ACA346798895SIX3c.108C>A (p.Asn36Lys)
2g.44942212C=CA2494534955SIX3c.108C= (p.Asn36=)
2g.44942212C>GCA346798896SIX3c.108C>G (p.Asn36Lys)
dbSNP
2g.44942212C>TCA426126329SIX3c.108C>T (p.Asn36=)
ClinVar dbSNP gnomAD v4
2g.44942215_44942232dupCA1642260SIX3c.111_128dup (p.Gly43_Ala44insAlaGlyGlyGlyGlyGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942215_44942232delCA2494534957SIX3c.111_128del (p.Ala38_Gly43del)
dbSNP gnomAD v4
2g.44942213G>ACA346798898SIX3c.109G>A (p.Gly37Ser)
2g.44942213G>CCA346798897SIX3c.109G>C (p.Gly37Arg)
dbSNP gnomAD v4
2g.44942213G=CA2494534960SIX3c.109G= (p.Gly37=)
2g.44942213G>TCA129166SIX3c.109G>T (p.Gly37Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942214G>ACA346798899SIX3c.110G>A (p.Gly37Asp)
2g.44942214G>CCA346798900SIX3c.110G>C (p.Gly37Ala)
2g.44942214G>TCA346798901SIX3c.110G>T (p.Gly37Val)
dbSNP
2g.44942215T>ACA426126330SIX3c.111T>A (p.Gly37=)
2g.44942215T>CCA1642262SIX3c.111T>C (p.Gly37=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942215T>GCA426126331SIX3c.111T>G (p.Gly37=)
2g.44942215T=CA2494534962SIX3c.111T= (p.Gly37=)
2g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGCCA2494534963SIX3c.111_129delinsTGCGGGAGGCGGCGGCGGC (p.Gly37=)
2g.44942216G>ACA346798902SIX3c.112G>A (p.Ala38Thr)
ClinVar dbSNP
2g.44942216G>CCA346798903SIX3c.112G>C (p.Ala38Pro)
2g.44942216G>TCA346798904SIX3c.112G>T (p.Ala38Ser)
2g.44942228_44942245dupCA2658869389SIX3c.124_141dup (p.Gly47_Ser48insGlyGlyAlaGlyGlyGly)
dbSNP gnomAD v4
2g.44942228_44942245delCA1642261SIX3c.124_141del (p.Gly42_Gly47del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942217C>ACA346798905SIX3c.113C>A (p.Ala38Glu)
gnomAD v4
2g.44942217C=CA2494534966SIX3c.113C= (p.Ala38=)
2g.44942217C>GCA346798906SIX3c.113C>G (p.Ala38Gly)
2g.44942217C>TCA1642263SIX3c.113C>T (p.Ala38Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.44942218G>ACA426126332SIX3c.114G>A (p.Ala38=)
dbSNP gnomAD v4 COSMIC
2g.44942218G>CCA426126333SIX3c.114G>C (p.Ala38=)
gnomAD v4
2g.44942218G=CA2494534968SIX3c.114G= (p.Ala38=)
2g.44942218G>TCA1642264SIX3c.114G>T (p.Ala38=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942218_44942219insAGCGGCCA645537516SIX3c.114_115insAGCGGC (p.Ala38_Gly39insSerGly)
COSMIC
2g.44942219G>ACA346798908SIX3c.115G>A (p.Gly39Arg)
dbSNP gnomAD v4
2g.44942219G>CCA346798909SIX3c.115G>C (p.Gly39Arg)
2g.44942219G=CA2494534969SIX3c.115G= (p.Gly39=)
2g.44942219G>TCA346798907SIX3c.115G>T (p.Gly39Ter)
gnomAD v4
2g.44942220G>ACA346798910SIX3c.116G>A (p.Gly39Glu)
gnomAD v4
2g.44942220G>CCA346798911SIX3c.116G>C (p.Gly39Ala)
gnomAD v4
2g.44942220G>TCA346798912SIX3c.116G>T (p.Gly39Val)
gnomAD v4
2g.44942221A>CCA426126334SIX3c.117A>C (p.Gly39=)
2g.44942221A>GCA426126335SIX3c.117A>G (p.Gly39=)
gnomAD v4
2g.44942221A>TCA426126336SIX3c.117A>T (p.Gly39=)
gnomAD v4
2g.44942221_44942224delinsAGGCCA2494534971SIX3c.117_120delinsAGGC (p.Gly39=)
2g.44942222G>ACA346798913SIX3c.118G>A (p.Gly40Ser)
2g.44942222G>CCA346798914SIX3c.118G>C (p.Gly40Arg)
gnomAD v4
2g.44942222G>TCA346798915SIX3c.118G>T (p.Gly40Cys)
gnomAD v4
2g.44942232_44942234dupCA1642265SIX3c.128_130dup (p.Gly43_Ala44insGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942232_44942234delCA532706661SIX3c.128_130del (p.Gly43del)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.44942230_44942256delCA2749734938SIX3c.126_152del (p.Gly43_Gly51del)
2g.44942235_44942306delCA2658869408SIX3c.131_202del (p.Ala44_Gly67del)
gnomAD v4
2g.44942223G>ACA346798916SIX3c.119G>A (p.Gly40Asp)
2g.44942223G>CCA346798917SIX3c.119G>C (p.Gly40Ala)
2g.44942223G>TCA346798918SIX3c.119G>T (p.Gly40Val)
2g.44942224C>ACA426126337SIX3c.120C>A (p.Gly40=)
ClinVar dbSNP gnomAD v4
2g.44942224C>GCA426126339SIX3c.120C>G (p.Gly40=)
2g.44942224C>TCA426126338SIX3c.120C>T (p.Gly40=)
gnomAD v4
2g.44942225G>ACA346798919SIX3c.121G>A (p.Gly41Ser)
gnomAD v4
2g.44942225G>CCA346798920SIX3c.121G>C (p.Gly41Arg)
2g.44942225G=CA2494534973SIX3c.121G= (p.Gly41=)
2g.44942225G>TCA346798921SIX3c.121G>T (p.Gly41Cys)
gnomAD v4
2g.44942225_44942246delinsGGCGGCGGCGCGGGAGGCGGCACA2494534974SIX3c.121_142delinsGGCGGCGGCGCGGGAGGCGGCA (p.Gly41=)
2g.44942226G>ACA346798924SIX3c.122G>A (p.Gly41Asp)
2g.44942226G>CCA346798923SIX3c.122G>C (p.Gly41Ala)
2g.44942226G>TCA346798922SIX3c.122G>T (p.Gly41Val)
gnomAD v4
2g.44942227_44942228insAGCCA769176972SIX3c.123_124insAGC (p.Gly41_Gly42insSer)
dbSNP
2g.44942235_44942255dupCA916524990SIX3c.131_151dup (p.Gly50_Gly51insAlaGlyGlyGlySerGlyGly)
dbSNP gnomAD v3 gnomAD v4
2g.44942235_44942255delCA2494534976SIX3c.131_151del (p.Ala44_Gly50del)
dbSNP
2g.44942227C>ACA426126340SIX3c.123C>A (p.Gly41=)
2g.44942227C>GCA426126341SIX3c.123C>G (p.Gly41=)
2g.44942227C>TCA426126342SIX3c.123C>T (p.Gly41=)
gnomAD v4
2g.44942228G>ACA346798925SIX3c.124G>A (p.Gly42Ser)
gnomAD v4
2g.44942228G>CCA346798926SIX3c.124G>C (p.Gly42Arg)
dbSNP gnomAD v2 gnomAD v4
2g.44942228G=CA2494534978SIX3c.124G= (p.Gly42=)
2g.44942228G>TCA346798927SIX3c.124G>T (p.Gly42Cys)
gnomAD v4
2g.44942234_44942245dupCA2576956287SIX3c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)
ClinVar
2g.44942229G>ACA346798928SIX3c.125G>A (p.Gly42Asp)
gnomAD v4
2g.44942229G>CCA346798929SIX3c.125G>C (p.Gly42Ala)
2g.44942229G>TCA346798930SIX3c.125G>T (p.Gly42Val)
2g.44942230_44942231delCA2658869441SIX3c.126_127del (p.Gly43ArgfsTer?)
gnomAD v4
2g.44942235_44942252delCA1030071070SIX3c.131_148del (p.Ala44_Gly49del)
gnomAD v3 gnomAD v4
2g.44942230C>ACA426126343SIX3c.126C>A (p.Gly42=)
2g.44942230C>GCA426126344SIX3c.126C>G (p.Gly42=)
2g.44942230C>TCA426126345SIX3c.126C>T (p.Gly42=)
gnomAD v4
2g.44942231G>ACA346798931SIX3c.127G>A (p.Gly43Ser)
gnomAD v4
2g.44942231G>CCA346798932SIX3c.127G>C (p.Gly43Arg)
2g.44942231G=CA2494534980SIX3c.127G= (p.Gly43=)
2g.44942231G>TCA346798933SIX3c.127G>T (p.Gly43Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942232delCA2658869460SIX3c.128del (p.Gly43AlafsTer?)
gnomAD v4
2g.44942235_44942243delCA2658869454SIX3c.131_139del (p.Ala44_Gly46del)
gnomAD v4
2g.44942235_44942285delCA2544789187SIX3c.131_181del (p.Ala44_Gly60del)
2g.44942232G>ACA346798934SIX3c.128G>A (p.Gly43Asp)
gnomAD v4
2g.44942232G>CCA346798935SIX3c.128G>C (p.Gly43Ala)
2g.44942232G>TCA346798936SIX3c.128G>T (p.Gly43Val)
gnomAD v4
2g.44942235_44942249delCA2749734939SIX3c.131_145del (p.Ala44_Ser48del)
2g.44942233C>ACA426126346SIX3c.129C>A (p.Gly43=)
gnomAD v4
2g.44942233C=CA2494534983SIX3c.129C= (p.Gly43=)
2g.44942233C>GCA426126347SIX3c.129C>G (p.Gly43=)
2g.44942233C>TCA426126348SIX3c.129C>T (p.Gly43=)
dbSNP gnomAD v2 gnomAD v4
2g.44942233_44942263delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGTCA2494534982SIX3c.129_159delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGT (p.Gly43=)
2g.44942234G>ACA346798938SIX3c.130G>A (p.Ala44Thr)
2g.44942234G>CCA346798937SIX3c.130G>C (p.Ala44Pro)
2g.44942234G>TCA346798939SIX3c.130G>T (p.Ala44Ser)
2g.44942240_44942258dupCA2658869468SIX3c.136_154dup (p.Asn52ArgfsTer?)
gnomAD v4
2g.44942246_44942275delCA1642266SIX3c.142_171del (p.Ser48_Gly57del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942235C>ACA346798941SIX3c.131C>A (p.Ala44Glu)
2g.44942235C>GCA346798940SIX3c.131C>G (p.Ala44Gly)
2g.44942235C>TCA346798942SIX3c.131C>T (p.Ala44Val)
gnomAD v4
2g.44942235_44942246delCA2576956291SIX3c.131_142del (p.Ala44_Ser48delinsGly)
2g.44942236G>ACA426126349SIX3c.132G>A (p.Ala44=)
dbSNP gnomAD v2
2g.44942236G>CCA426126350SIX3c.132G>C (p.Ala44=)
2g.44942236G=CA2494534985SIX3c.132G= (p.Ala44=)
2g.44942236G>TCA426126351SIX3c.132G>T (p.Ala44=)
dbSNP gnomAD v4
2g.44942237G>ACA346798943SIX3c.133G>A (p.Gly45Arg)
gnomAD v4
2g.44942237G>CCA346798944SIX3c.133G>C (p.Gly45Arg)
2g.44942237G>TCA346798945SIX3c.133G>T (p.Gly45Ter)
2g.44942238G>ACA47011039SIX3c.134G>A (p.Gly45Glu)
dbSNP gnomAD v3 gnomAD v4
2g.44942238G>CCA346798946SIX3c.134G>C (p.Gly45Ala)
2g.44942238G=CA2494534987SIX3c.134G= (p.Gly45=)
2g.44942238G>TCA346798947SIX3c.134G>T (p.Gly45Val)
gnomAD v4
2g.44942239A>CCA426126352SIX3c.135A>C (p.Gly45=)
2g.44942239A>GCA426126353SIX3c.135A>G (p.Gly45=)
2g.44942239A>TCA426126354SIX3c.135A>T (p.Gly45=)
2g.44942239_44942248delinsAGGCGGCAGCCA2494534989SIX3c.135_144delinsAGGCGGCAGC (p.Gly45=)
2g.44942240G>ACA346798948SIX3c.136G>A (p.Gly46Ser)
gnomAD v4
2g.44942240G>CCA346798949SIX3c.136G>C (p.Gly46Arg)
2g.44942240G>TCA346798950SIX3c.136G>T (p.Gly46Cys)
2g.44942243_44942245dupCA913090548SIX3c.139_141dup (p.Gly47_Ser48insGly)
2g.44942246_44942254dupCA47011040SIX3c.142_150dup (p.Gly50_Gly51insSerGlyGly)
dbSNP gnomAD v3 gnomAD v4
2g.44942246_44942254delCA532706662SIX3c.142_150del (p.Ser48_Gly50del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942241G>ACA346798951SIX3c.137G>A (p.Gly46Asp)
2g.44942241G>CCA346798952SIX3c.137G>C (p.Gly46Ala)
2g.44942241G>TCA346798953SIX3c.137G>T (p.Gly46Val)
gnomAD v4
2g.44942242C>ACA426126355SIX3c.138C>A (p.Gly46=)
2g.44942242C>GCA426126356SIX3c.138C>G (p.Gly46=)
2g.44942242C>TCA426126357SIX3c.138C>T (p.Gly46=)
dbSNP gnomAD v4
2g.44942243G>ACA346798956SIX3c.139G>A (p.Gly47Ser)
gnomAD v4
2g.44942243G>CCA346798954SIX3c.139G>C (p.Gly47Arg)
2g.44942243G=CA2494534993SIX3c.139G= (p.Gly47=)
2g.44942243G>TCA346798955SIX3c.139G>T (p.Gly47Cys)
dbSNP
2g.44942243_44942246delinsGGCACA2494534994SIX3c.139_142delinsGGCA (p.Gly47=)
2g.44942243_44942244insACA916524991SIX3c.139_140insA (p.Gly47GlufsTer?)
dbSNP
2g.44942244G>ACA346798957SIX3c.140G>A (p.Gly47Asp)
gnomAD v4
2g.44942244G>CCA346798958SIX3c.140G>C (p.Gly47Ala)
2g.44942244G>TCA346798959SIX3c.140G>T (p.Gly47Val)
ClinVar dbSNP
2g.44942246_44942248delCA645537517SIX3c.142_144del (p.Ser48del)
dbSNP COSMIC
2g.44942245C>ACA426126358SIX3c.141C>A (p.Gly47=)
2g.44942245C>GCA426126360SIX3c.141C>G (p.Gly47=)
2g.44942245C>TCA426126359SIX3c.141C>T (p.Gly47=)
gnomAD v4
2g.44942246A=CA2494534996SIX3c.142A= (p.Ser48=)
2g.44942246A>CCA346798960SIX3c.142A>C (p.Ser48Arg)
gnomAD v4
2g.44942246A>GCA1642267SIX3c.142A>G (p.Ser48Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942246A>TCA346798961SIX3c.142A>T (p.Ser48Cys)
2g.44942247G>ACA346798962SIX3c.143G>A (p.Ser48Asn)
2g.44942247G>CCA346798963SIX3c.143G>C (p.Ser48Thr)
2g.44942247G>TCA346798964SIX3c.143G>T (p.Ser48Ile)
2g.44942254_44942256delCA2658869504SIX3c.150_152del (p.Gly51del)
gnomAD v4
2g.44942248_44942277delCA2511709874SIX3c.144_173del (p.Gly49_Gly58del)

Number of alleles fetched