Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.27173227G>ACA373125017TEKc.766G>A (p.Glu256Lys)
c.325G>A (p.Glu109Lys)
c.454G>A (p.Glu152Lys)
 gnomAD v4
9g.27173227G>CCA373125021TEKc.766G>C (p.Glu256Gln)
c.325G>C (p.Glu109Gln)
c.454G>C (p.Glu152Gln)
9g.27173227G>TCA373125018TEKc.766G>T (p.Glu256Ter)
c.325G>T (p.Glu109Ter)
c.454G>T (p.Glu152Ter)
9g.27173228A>CCA373125026TEKc.767A>C (p.Glu256Ala)
c.326A>C (p.Glu109Ala)
c.455A>C (p.Glu152Ala)
9g.27173228A>GCA373125029TEKc.767A>G (p.Glu256Gly)
c.326A>G (p.Glu109Gly)
c.455A>G (p.Glu152Gly)
9g.27173228A>TCA373125035TEKc.767A>T (p.Glu256Val)
c.326A>T (p.Glu109Val)
c.455A>T (p.Glu152Val)
9g.27173229A=CA1842021595TEKc.768A= (p.Glu256=)
c.327A= (p.Glu109=)
c.456A= (p.Glu152=)
9g.27173229A>CCA373125039TEKc.768A>C (p.Glu256Asp)
c.327A>C (p.Glu109Asp)
c.456A>C (p.Glu152Asp)
9g.27173229A>GCA464168616TEKc.768A>G (p.Glu256=)
c.327A>G (p.Glu109=)
c.456A>G (p.Glu152=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173229A>TCA373125042TEKc.768A>T (p.Glu256Asp)
c.327A>T (p.Glu109Asp)
c.456A>T (p.Glu152Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.27173230C>ACA373125045TEKc.769C>A (p.Leu257Met)
c.328C>A (p.Leu110Met)
c.457C>A (p.Leu153Met)
9g.27173230C=CA1842021601TEKc.769C= (p.Leu257=)
c.328C= (p.Leu110=)
c.457C= (p.Leu153=)
9g.27173230C>GCA373125057TEKc.769C>G (p.Leu257Val)
c.328C>G (p.Leu110Val)
c.457C>G (p.Leu153Val)
 gnomAD v4
9g.27173230C>TCA464168618TEKc.769C>T (p.Leu257=)
c.328C>T (p.Leu110=)
c.457C>T (p.Leu153=)
 dbSNP gnomAD v2
9g.27173231T>ACA373125061TEKc.770T>A (p.Leu257Gln)
c.329T>A (p.Leu110Gln)
c.458T>A (p.Leu153Gln)
9g.27173231T>CCA373125062TEKc.770T>C (p.Leu257Pro)
c.329T>C (p.Leu110Pro)
c.458T>C (p.Leu153Pro)
9g.27173231T>GCA373125063TEKc.770T>G (p.Leu257Arg)
c.329T>G (p.Leu110Arg)
c.458T>G (p.Leu153Arg)
9g.27173232G>ACA5016018TEKc.771G>A (p.Leu257=)
c.330G>A (p.Leu110=)
c.459G>A (p.Leu153=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173232G>CCA464168620TEKc.771G>C (p.Leu257=)
c.330G>C (p.Leu110=)
c.459G>C (p.Leu153=)
9g.27173232G=CA1842021605TEKc.771G= (p.Leu257=)
c.330G= (p.Leu110=)
c.459G= (p.Leu153=)
9g.27173232G>TCA464168619TEKc.771G>T (p.Leu257=)
c.330G>T (p.Leu110=)
c.459G>T (p.Leu153=)
9g.27173233C>ACA373125068TEKc.772C>A (p.His258Asn)
c.331C>A (p.His111Asn)
c.460C>A (p.His154Asn)
9g.27173233C>GCA373125067TEKc.772C>G (p.His258Asp)
c.331C>G (p.His111Asp)
c.460C>G (p.His154Asp)
9g.27173233C>TCA373125066TEKc.772C>T (p.His258Tyr)
c.331C>T (p.His111Tyr)
c.460C>T (p.His154Tyr)
9g.27173234A>CCA373125070TEKc.773A>C (p.His258Pro)
c.332A>C (p.His111Pro)
c.461A>C (p.His154Pro)
9g.27173234A>GCA373125072TEKc.773A>G (p.His258Arg)
c.332A>G (p.His111Arg)
c.461A>G (p.His154Arg)
 gnomAD v4
9g.27173234A>TCA373125074TEKc.773A>T (p.His258Leu)
c.332A>T (p.His111Leu)
c.461A>T (p.His154Leu)
9g.27173235C>ACA373125077TEKc.774C>A (p.His258Gln)
c.333C>A (p.His111Gln)
c.462C>A (p.His154Gln)
9g.27173235C>GCA373125082TEKc.774C>G (p.His258Gln)
c.333C>G (p.His111Gln)
c.462C>G (p.His154Gln)
9g.27173235C>TCA464168624TEKc.774C>T (p.His258=)
c.333C>T (p.His111=)
c.462C>T (p.His154=)
9g.27173236A>CCA373125087TEKc.775A>C (p.Thr259Pro)
c.334A>C (p.Thr112Pro)
c.463A>C (p.Thr155Pro)
9g.27173236A>GCA373125093TEKc.775A>G (p.Thr259Ala)
c.334A>G (p.Thr112Ala)
c.463A>G (p.Thr155Ala)
9g.27173236A>TCA373125097TEKc.775A>T (p.Thr259Ser)
c.334A>T (p.Thr112Ser)
c.463A>T (p.Thr155Ser)
9g.27173237C>ACA373125101TEKc.776C>A (p.Thr259Lys)
c.335C>A (p.Thr112Lys)
c.464C>A (p.Thr155Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173237C=CA1842021612TEKc.776C= (p.Thr259=)
c.335C= (p.Thr112=)
c.464C= (p.Thr155=)
9g.27173237C>GCA373125104TEKc.776C>G (p.Thr259Arg)
c.335C>G (p.Thr112Arg)
c.464C>G (p.Thr155Arg)
9g.27173237C>TCA5016019TEKc.776C>T (p.Thr259Met)
c.335C>T (p.Thr112Met)
c.464C>T (p.Thr155Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.27173238G>ACA5016020TEKc.777G>A (p.Thr259=)
c.336G>A (p.Thr112=)
c.465G>A (p.Thr155=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173238G>CCA464168628TEKc.777G>C (p.Thr259=)
c.336G>C (p.Thr112=)
c.465G>C (p.Thr155=)
9g.27173238G=CA1842021621TEKc.777G= (p.Thr259=)
c.336G= (p.Thr112=)
c.465G= (p.Thr155=)
9g.27173238G>TCA464168629TEKc.777G>T (p.Thr259=)
c.336G>T (p.Thr112=)
c.465G>T (p.Thr155=)
 gnomAD v4
9g.27173239T>ACA373125122TEKc.778T>A (p.Phe260Ile)
c.337T>A (p.Phe113Ile)
c.466T>A (p.Phe156Ile)
9g.27173239T>CCA373125119TEKc.778T>C (p.Phe260Leu)
c.337T>C (p.Phe113Leu)
c.466T>C (p.Phe156Leu)
9g.27173239T>GCA373125112TEKc.778T>G (p.Phe260Val)
c.337T>G (p.Phe113Val)
c.466T>G (p.Phe156Val)
9g.27173240T>ACA373125125TEKc.779T>A (p.Phe260Tyr)
c.338T>A (p.Phe113Tyr)
c.467T>A (p.Phe156Tyr)
9g.27173240T>CCA373125128TEKc.779T>C (p.Phe260Ser)
c.338T>C (p.Phe113Ser)
c.467T>C (p.Phe156Ser)
9g.27173240T>GCA373125129TEKc.779T>G (p.Phe260Cys)
c.338T>G (p.Phe113Cys)
c.467T>G (p.Phe156Cys)
9g.27173241T>ACA373125130TEKc.780T>A (p.Phe260Leu)
c.339T>A (p.Phe113Leu)
c.468T>A (p.Phe156Leu)
9g.27173241T>CCA464168631TEKc.780T>C (p.Phe260=)
c.339T>C (p.Phe113=)
c.468T>C (p.Phe156=)
9g.27173241T>GCA373125133TEKc.780T>G (p.Phe260Leu)
c.339T>G (p.Phe113Leu)
c.468T>G (p.Phe156Leu)
9g.27173242G>ACA373125143TEKc.781G>A (p.Gly261Ser)
c.340G>A (p.Gly114Ser)
c.469G>A (p.Gly157Ser)
9g.27173242G>CCA373125141TEKc.781G>C (p.Gly261Arg)
c.340G>C (p.Gly114Arg)
c.469G>C (p.Gly157Arg)
9g.27173242G>TCA373125138TEKc.781G>T (p.Gly261Cys)
c.340G>T (p.Gly114Cys)
c.469G>T (p.Gly157Cys)
9g.27173243G>ACA373125147TEKc.782G>A (p.Gly261Asp)
c.341G>A (p.Gly114Asp)
c.470G>A (p.Gly157Asp)
 gnomAD v4
9g.27173243G>CCA373125150TEKc.782G>C (p.Gly261Ala)
c.341G>C (p.Gly114Ala)
c.470G>C (p.Gly157Ala)
9g.27173243G>TCA373125153TEKc.782G>T (p.Gly261Val)
c.341G>T (p.Gly114Val)
c.470G>T (p.Gly157Val)
9g.27173244C>ACA464168634TEKc.783C>A (p.Gly261=)
c.342C>A (p.Gly114=)
c.471C>A (p.Gly157=)
9g.27173244C=CA1842021625TEKc.783C= (p.Gly261=)
c.342C= (p.Gly114=)
c.471C= (p.Gly157=)
9g.27173244C>GCA464168635TEKc.783C>G (p.Gly261=)
c.342C>G (p.Gly114=)
c.471C>G (p.Gly157=)
9g.27173244C>TCA5016021TEKc.783C>T (p.Gly261=)
c.342C>T (p.Gly114=)
c.471C>T (p.Gly157=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173245A>CCA464168636TEKc.784A>C (p.Arg262=)
c.343A>C (p.Arg115=)
c.472A>C (p.Arg158=)
9g.27173245A>GCA373125159TEKc.784A>G (p.Arg262Gly)
c.343A>G (p.Arg115Gly)
c.472A>G (p.Arg158Gly)
9g.27173245A>TCA373125161TEKc.784A>T (p.Arg262Ter)
c.343A>T (p.Arg115Ter)
c.472A>T (p.Arg158Ter)
9g.27173246G>ACA373125165TEKc.785G>A (p.Arg262Lys)
c.344G>A (p.Arg115Lys)
c.473G>A (p.Arg158Lys)
9g.27173246G>CCA373125171TEKc.785G>C (p.Arg262Thr)
c.344G>C (p.Arg115Thr)
c.473G>C (p.Arg158Thr)
9g.27173246G>TCA373125168TEKc.785G>T (p.Arg262Ile)
c.344G>T (p.Arg115Ile)
c.473G>T (p.Arg158Ile)
9g.27173247A>CCA373125177TEKc.786A>C (p.Arg262Ser)
c.345A>C (p.Arg115Ser)
c.474A>C (p.Arg158Ser)
9g.27173247A>GCA464168639TEKc.786A>G (p.Arg262=)
c.345A>G (p.Arg115=)
c.474A>G (p.Arg158=)
9g.27173247A>TCA373125179TEKc.786A>T (p.Arg262Ser)
c.345A>T (p.Arg115Ser)
c.474A>T (p.Arg158Ser)
9g.27173248A=CA1842021629TEKc.787A= (p.Thr263=)
c.346A= (p.Thr116=)
c.475A= (p.Thr159=)
9g.27173248A>CCA373125183TEKc.787A>C (p.Thr263Pro)
c.346A>C (p.Thr116Pro)
c.475A>C (p.Thr159Pro)
9g.27173248A>GCA5016022TEKc.787A>G (p.Thr263Ala)
c.346A>G (p.Thr116Ala)
c.475A>G (p.Thr159Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173248A>TCA373125187TEKc.787A>T (p.Thr263Ser)
c.346A>T (p.Thr116Ser)
c.475A>T (p.Thr159Ser)
9g.27173249C>ACA373125196TEKc.788C>A (p.Thr263Asn)
c.347C>A (p.Thr116Asn)
c.476C>A (p.Thr159Asn)
9g.27173249C>GCA373125199TEKc.788C>G (p.Thr263Ser)
c.347C>G (p.Thr116Ser)
c.476C>G (p.Thr159Ser)
9g.27173249C>TCA373125202TEKc.788C>T (p.Thr263Ile)
c.347C>T (p.Thr116Ile)
c.476C>T (p.Thr159Ile)
 gnomAD v4
9g.27173250T>ACA464168641TEKc.789T>A (p.Thr263=)
c.348T>A (p.Thr116=)
c.477T>A (p.Thr159=)
9g.27173250T>CCA464168642TEKc.789T>C (p.Thr263=)
c.348T>C (p.Thr116=)
c.477T>C (p.Thr159=)
9g.27173250T>GCA464168643TEKc.789T>G (p.Thr263=)
c.348T>G (p.Thr116=)
c.477T>G (p.Thr159=)
9g.27173251T>ACA373125206TEKc.790T>A (p.Cys264Ser)
c.349T>A (p.Cys117Ser)
c.478T>A (p.Cys160Ser)
9g.27173251T>CCA373125210TEKc.790T>C (p.Cys264Arg)
c.349T>C (p.Cys117Arg)
c.478T>C (p.Cys160Arg)
9g.27173251T>GCA373125211TEKc.790T>G (p.Cys264Gly)
c.349T>G (p.Cys117Gly)
c.478T>G (p.Cys160Gly)
9g.27173252G>ACA373125217TEKc.791G>A (p.Cys264Tyr)
c.350G>A (p.Cys117Tyr)
c.479G>A (p.Cys160Tyr)
9g.27173252G>CCA373125222TEKc.791G>C (p.Cys264Ser)
c.350G>C (p.Cys117Ser)
c.479G>C (p.Cys160Ser)
9g.27173252G>TCA373125214TEKc.791G>T (p.Cys264Phe)
c.350G>T (p.Cys117Phe)
c.479G>T (p.Cys160Phe)
9g.27173253T>ACA373125229TEKc.792T>A (p.Cys264Ter)
c.351T>A (p.Cys117Ter)
c.480T>A (p.Cys160Ter)
 gnomAD v4
9g.27173253T>CCA464168646TEKc.792T>C (p.Cys264=)
c.351T>C (p.Cys117=)
c.480T>C (p.Cys160=)
9g.27173253T>GCA373125226TEKc.792T>G (p.Cys264Trp)
c.351T>G (p.Cys117Trp)
c.480T>G (p.Cys160Trp)
9g.27173254A>CCA373125241TEKc.793A>C (p.Lys265Gln)
c.352A>C (p.Lys118Gln)
c.481A>C (p.Lys161Gln)
9g.27173254A>GCA373125232TEKc.793A>G (p.Lys265Glu)
c.352A>G (p.Lys118Glu)
c.481A>G (p.Lys161Glu)
 gnomAD v4
9g.27173254A>TCA373125239TEKc.793A>T (p.Lys265Ter)
c.352A>T (p.Lys118Ter)
c.481A>T (p.Lys161Ter)
9g.27173255A>CCA373125244TEKc.794A>C (p.Lys265Thr)
c.353A>C (p.Lys118Thr)
c.482A>C (p.Lys161Thr)
9g.27173255A>GCA373125246TEKc.794A>G (p.Lys265Arg)
c.353A>G (p.Lys118Arg)
c.482A>G (p.Lys161Arg)
9g.27173255A>TCA373125248TEKc.794A>T (p.Lys265Ile)
c.353A>T (p.Lys118Ile)
c.482A>T (p.Lys161Ile)
9g.27173256A=CA1842021633TEKc.795A= (p.Lys265=)
c.354A= (p.Lys118=)
c.483A= (p.Lys161=)
9g.27173256A>CCA373125250TEKc.795A>C (p.Lys265Asn)
c.354A>C (p.Lys118Asn)
c.483A>C (p.Lys161Asn)
9g.27173256A>GCA5016023TEKc.795A>G (p.Lys265=)
c.354A>G (p.Lys118=)
c.483A>G (p.Lys161=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173256A>TCA373125257TEKc.795A>T (p.Lys265Asn)
c.354A>T (p.Lys118Asn)
c.483A>T (p.Lys161Asn)
9g.27173257G>ACA373125261TEKc.796G>A (p.Glu266Lys)
c.355G>A (p.Glu119Lys)
c.484G>A (p.Glu162Lys)
9g.27173257G>CCA373125264TEKc.796G>C (p.Glu266Gln)
c.355G>C (p.Glu119Gln)
c.484G>C (p.Glu162Gln)
 dbSNP
9g.27173257G=CA1842021639TEKc.796G= (p.Glu266=)
c.355G= (p.Glu119=)
c.484G= (p.Glu162=)
9g.27173257G>TCA373125267TEKc.796G>T (p.Glu266Ter)
c.355G>T (p.Glu119Ter)
c.484G>T (p.Glu162Ter)
9g.27173258A>CCA373125276TEKc.797A>C (p.Glu266Ala)
c.356A>C (p.Glu119Ala)
c.485A>C (p.Glu162Ala)
9g.27173258A>GCA373125273TEKc.797A>G (p.Glu266Gly)
c.356A>G (p.Glu119Gly)
c.485A>G (p.Glu162Gly)
9g.27173258A>TCA373125269TEKc.797A>T (p.Glu266Val)
c.356A>T (p.Glu119Val)
c.485A>T (p.Glu162Val)
9g.27173259A>CCA373125279TEKc.798A>C (p.Glu266Asp)
c.357A>C (p.Glu119Asp)
c.486A>C (p.Glu162Asp)
9g.27173259A>GCA464168650TEKc.798A>G (p.Glu266=)
c.357A>G (p.Glu119=)
c.486A>G (p.Glu162=)
9g.27173259A>TCA373125282TEKc.798A>T (p.Glu266Asp)
c.357A>T (p.Glu119Asp)
c.486A>T (p.Glu162Asp)
9g.27173260A>CCA464168651TEKc.799A>C (p.Arg267=)
c.358A>C (p.Arg120=)
c.487A>C (p.Arg163=)
9g.27173260A>GCA373125286TEKc.799A>G (p.Arg267Gly)
c.358A>G (p.Arg120Gly)
c.487A>G (p.Arg163Gly)
9g.27173260A>TCA373125287TEKc.799A>T (p.Arg267Trp)
c.358A>T (p.Arg120Trp)
c.487A>T (p.Arg163Trp)
9g.27173261G>ACA373125292TEKc.800G>A (p.Arg267Lys)
c.359G>A (p.Arg120Lys)
c.488G>A (p.Arg163Lys)
9g.27173261G>CCA373125295TEKc.800G>C (p.Arg267Thr)
c.359G>C (p.Arg120Thr)
c.488G>C (p.Arg163Thr)
9g.27173261G=CA1842021643TEKc.800G= (p.Arg267=)
c.359G= (p.Arg120=)
c.488G= (p.Arg163=)
9g.27173261G>TCA191326048TEKc.800G>T (p.Arg267Met)
c.359G>T (p.Arg120Met)
c.488G>T (p.Arg163Met)
 dbSNP
9g.27173262G>ACA464168654TEKc.801G>A (p.Arg267=)
c.360G>A (p.Arg120=)
c.489G>A (p.Arg163=)
 dbSNP gnomAD v2 gnomAD v4
9g.27173262G>CCA373125304TEKc.801G>C (p.Arg267Ser)
c.360G>C (p.Arg120Ser)
c.489G>C (p.Arg163Ser)
 dbSNP
9g.27173262G=CA1842021647TEKc.801G= (p.Arg267=)
c.360G= (p.Arg120=)
c.489G= (p.Arg163=)
9g.27173262G>TCA373125305TEKc.801G>T (p.Arg267Ser)
c.360G>T (p.Arg120Ser)
c.489G>T (p.Arg163Ser)
9g.27173263T>ACA373125306TEKc.802T>A (p.Cys268Ser)
c.361T>A (p.Cys121Ser)
c.490T>A (p.Cys164Ser)
9g.27173263T>CCA373125308TEKc.802T>C (p.Cys268Arg)
c.361T>C (p.Cys121Arg)
c.490T>C (p.Cys164Arg)
9g.27173263T>GCA373125310TEKc.802T>G (p.Cys268Gly)
c.361T>G (p.Cys121Gly)
c.490T>G (p.Cys164Gly)
9g.27173264G>ACA373125317TEKc.803G>A (p.Cys268Tyr)
c.362G>A (p.Cys121Tyr)
c.491G>A (p.Cys164Tyr)
9g.27173264G>CCA373125319TEKc.803G>C (p.Cys268Ser)
c.362G>C (p.Cys121Ser)
c.491G>C (p.Cys164Ser)
9g.27173264G>TCA373125314TEKc.803G>T (p.Cys268Phe)
c.362G>T (p.Cys121Phe)
c.491G>T (p.Cys164Phe)
9g.27173265C>ACA373125323TEKc.804C>A (p.Cys268Ter)
c.363C>A (p.Cys121Ter)
c.492C>A (p.Cys164Ter)
9g.27173265C>GCA373125326TEKc.804C>G (p.Cys268Trp)
c.363C>G (p.Cys121Trp)
c.492C>G (p.Cys164Trp)
9g.27173265C>TCA464168658TEKc.804C>T (p.Cys268=)
c.363C>T (p.Cys121=)
c.492C>T (p.Cys164=)
9g.27173266A>CCA373125331TEKc.805A>C (p.Ser269Arg)
c.364A>C (p.Ser122Arg)
c.493A>C (p.Ser165Arg)
9g.27173266A>GCA373125334TEKc.805A>G (p.Ser269Gly)
c.364A>G (p.Ser122Gly)
c.493A>G (p.Ser165Gly)
9g.27173266A>TCA373125337TEKc.805A>T (p.Ser269Cys)
c.364A>T (p.Ser122Cys)
c.493A>T (p.Ser165Cys)
9g.27173267G>ACA373125342TEKc.806G>A (p.Ser269Asn)
c.365G>A (p.Ser122Asn)
c.494G>A (p.Ser165Asn)
9g.27173267G>CCA373125345TEKc.806G>C (p.Ser269Thr)
c.365G>C (p.Ser122Thr)
c.494G>C (p.Ser165Thr)
9g.27173267G=CA1842021651TEKc.806G= (p.Ser269=)
c.365G= (p.Ser122=)
c.494G= (p.Ser165=)
9g.27173267G>TCA5016024TEKc.806G>T (p.Ser269Ile)
c.365G>T (p.Ser122Ile)
c.494G>T (p.Ser165Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173268T>ACA373125351TEKc.807T>A (p.Ser269Arg)
c.366T>A (p.Ser122Arg)
c.495T>A (p.Ser165Arg)
9g.27173268T>CCA464168660TEKc.807T>C (p.Ser269=)
c.366T>C (p.Ser122=)
c.495T>C (p.Ser165=)
9g.27173268T>GCA373125354TEKc.807T>G (p.Ser269Arg)
c.366T>G (p.Ser122Arg)
c.495T>G (p.Ser165Arg)
9g.27173269G>ACA373125358TEKc.808G>A (p.Gly270Arg)
c.367G>A (p.Gly123Arg)
c.496G>A (p.Gly166Arg)
 gnomAD v4
9g.27173269G>CCA373125364TEKc.808G>C (p.Gly270Arg)
c.367G>C (p.Gly123Arg)
c.496G>C (p.Gly166Arg)
9g.27173269G>TCA373125366TEKc.808G>T (p.Gly270Ter)
c.367G>T (p.Gly123Ter)
c.496G>T (p.Gly166Ter)
9g.27173270G>ACA5016025TEKc.809G>A (p.Gly270Glu)
c.368G>A (p.Gly123Glu)
c.497G>A (p.Gly166Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173270G>CCA373125371TEKc.809G>C (p.Gly270Ala)
c.368G>C (p.Gly123Ala)
c.497G>C (p.Gly166Ala)
 gnomAD v4
9g.27173270G=CA1842021655TEKc.809G= (p.Gly270=)
c.368G= (p.Gly123=)
c.497G= (p.Gly166=)
9g.27173270G>TCA373125368TEKc.809G>T (p.Gly270Val)
c.368G>T (p.Gly123Val)
c.497G>T (p.Gly166Val)
9g.27173271A=CA1842021661TEKc.810A= (p.Gly270=)
c.369A= (p.Gly123=)
c.498A= (p.Gly166=)
9g.27173271A>CCA464168662TEKc.810A>C (p.Gly270=)
c.369A>C (p.Gly123=)
c.498A>C (p.Gly166=)
9g.27173271A>GCA191326058TEKc.810A>G (p.Gly270=)
c.369A>G (p.Gly123=)
c.498A>G (p.Gly166=)
 dbSNP gnomAD v4 COSMIC COSMIC
9g.27173271A>TCA464168663TEKc.810A>T (p.Gly270=)
c.369A>T (p.Gly123=)
c.498A>T (p.Gly166=)
9g.27173272C>ACA373125379TEKc.811C>A (p.Gln271Lys)
c.370C>A (p.Gln124Lys)
c.499C>A (p.Gln167Lys)
9g.27173272C=CA1842021665TEKc.811C= (p.Gln271=)
c.370C= (p.Gln124=)
c.499C= (p.Gln167=)
9g.27173272C>GCA5016026TEKc.811C>G (p.Gln271Glu)
c.370C>G (p.Gln124Glu)
c.499C>G (p.Gln167Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173272C>TCA373125384TEKc.811C>T (p.Gln271Ter)
c.370C>T (p.Gln124Ter)
c.499C>T (p.Gln167Ter)
9g.27173273A>CCA373125389TEKc.812A>C (p.Gln271Pro)
c.371A>C (p.Gln124Pro)
c.500A>C (p.Gln167Pro)
9g.27173273A>GCA373125392TEKc.812A>G (p.Gln271Arg)
c.371A>G (p.Gln124Arg)
c.500A>G (p.Gln167Arg)
9g.27173273A>TCA373125395TEKc.812A>T (p.Gln271Leu)
c.371A>T (p.Gln124Leu)
c.500A>T (p.Gln167Leu)
9g.27173274A>CCA373125400TEKc.813A>C (p.Gln271His)
c.372A>C (p.Gln124His)
c.501A>C (p.Gln167His)
9g.27173274A>GCA464168667TEKc.813A>G (p.Gln271=)
c.372A>G (p.Gln124=)
c.501A>G (p.Gln167=)
 gnomAD v4
9g.27173274A>TCA373125405TEKc.813A>T (p.Gln271His)
c.372A>T (p.Gln124His)
c.501A>T (p.Gln167His)
9g.27173275G>ACA373125410TEKc.814G>A (p.Glu272Lys)
c.373G>A (p.Glu125Lys)
c.502G>A (p.Glu168Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.27173275G>CCA373125413TEKc.814G>C (p.Glu272Gln)
c.373G>C (p.Glu125Gln)
c.502G>C (p.Glu168Gln)
9g.27173275G=CA1842021669TEKc.814G= (p.Glu272=)
c.373G= (p.Glu125=)
c.502G= (p.Glu168=)
9g.27173275G>TCA373125416TEKc.814G>T (p.Glu272Ter)
c.373G>T (p.Glu125Ter)
c.502G>T (p.Glu168Ter)
9g.27173276A>CCA373125419TEKc.815A>C (p.Glu272Ala)
c.374A>C (p.Glu125Ala)
c.503A>C (p.Glu168Ala)
9g.27173276A>GCA373125421TEKc.815A>G (p.Glu272Gly)
c.374A>G (p.Glu125Gly)
c.503A>G (p.Glu168Gly)
9g.27173276A>TCA373125423TEKc.815A>T (p.Glu272Val)
c.374A>T (p.Glu125Val)
c.503A>T (p.Glu168Val)
9g.27173277G>ACA464168670TEKc.816G>A (p.Glu272=)
c.375G>A (p.Glu125=)
c.504G>A (p.Glu168=)
 gnomAD v4
9g.27173277G>CCA373125427TEKc.816G>C (p.Glu272Asp)
c.375G>C (p.Glu125Asp)
c.504G>C (p.Glu168Asp)
9g.27173277G>TCA373125430TEKc.816G>T (p.Glu272Asp)
c.375G>T (p.Glu125Asp)
c.504G>T (p.Glu168Asp)
9g.27173278G>ACA373125432TEKc.817G>A (p.Gly273Arg)
c.376G>A (p.Gly126Arg)
c.505G>A (p.Gly169Arg)
 gnomAD v4
9g.27173278G>CCA373125438TEKc.817G>C (p.Gly273Arg)
c.376G>C (p.Gly126Arg)
c.505G>C (p.Gly169Arg)
9g.27173278G>TCA373125435TEKc.817G>T (p.Gly273Ter)
c.376G>T (p.Gly126Ter)
c.505G>T (p.Gly169Ter)
9g.27173279G>ACA373125443TEKc.818G>A (p.Gly273Glu)
c.377G>A (p.Gly126Glu)
c.506G>A (p.Gly169Glu)
 dbSNP
9g.27173279G>CCA373125447TEKc.818G>C (p.Gly273Ala)
c.377G>C (p.Gly126Ala)
c.506G>C (p.Gly169Ala)
9g.27173279G=CA1842021673TEKc.818G= (p.Gly273=)
c.377G= (p.Gly126=)
c.506G= (p.Gly169=)
9g.27173279G>TCA373125450TEKc.818G>T (p.Gly273Val)
c.377G>T (p.Gly126Val)
c.506G>T (p.Gly169Val)
9g.27173280A>CCA464168672TEKc.819A>C (p.Gly273=)
c.378A>C (p.Gly126=)
c.507A>C (p.Gly169=)
9g.27173280A>GCA464168673TEKc.819A>G (p.Gly273=)
c.378A>G (p.Gly126=)
c.507A>G (p.Gly169=)
9g.27173280A>TCA464168674TEKc.819A>T (p.Gly273=)
c.378A>T (p.Gly126=)
c.507A>T (p.Gly169=)
 gnomAD v4
9g.27173281T>ACA373125454TEKc.820T>A (p.Cys274Ser)
c.379T>A (p.Cys127Ser)
c.508T>A (p.Cys170Ser)
9g.27173281T>CCA373125457TEKc.820T>C (p.Cys274Arg)
c.379T>C (p.Cys127Arg)
c.508T>C (p.Cys170Arg)
 gnomAD v4
9g.27173281T>GCA373125460TEKc.820T>G (p.Cys274Gly)
c.379T>G (p.Cys127Gly)
c.508T>G (p.Cys170Gly)
9g.27173282G>ACA373125464TEKc.821G>A (p.Cys274Tyr)
c.380G>A (p.Cys127Tyr)
c.509G>A (p.Cys170Tyr)
9g.27173282G>CCA373125467TEKc.821G>C (p.Cys274Ser)
c.380G>C (p.Cys127Ser)
c.509G>C (p.Cys170Ser)
9g.27173282G>TCA373125470TEKc.821G>T (p.Cys274Phe)
c.380G>T (p.Cys127Phe)
c.509G>T (p.Cys170Phe)
9g.27173283C>ACA373125473TEKc.822C>A (p.Cys274Ter)
c.381C>A (p.Cys127Ter)
c.510C>A (p.Cys170Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.27173283C=CA1842021676TEKc.822C= (p.Cys274=)
c.381C= (p.Cys127=)
c.510C= (p.Cys170=)
9g.27173283C>GCA373125476TEKc.822C>G (p.Cys274Trp)
c.381C>G (p.Cys127Trp)
c.510C>G (p.Cys170Trp)
9g.27173283C>TCA464168676TEKc.822C>T (p.Cys274=)
c.381C>T (p.Cys127=)
c.510C>T (p.Cys170=)
9g.27173284A>CCA373125488TEKc.823A>C (p.Lys275Gln)
c.382A>C (p.Lys128Gln)
c.511A>C (p.Lys171Gln)
9g.27173284A>GCA373125481TEKc.823A>G (p.Lys275Glu)
c.382A>G (p.Lys128Glu)
c.511A>G (p.Lys171Glu)
9g.27173284A>TCA373125485TEKc.823A>T (p.Lys275Ter)
c.382A>T (p.Lys128Ter)
c.511A>T (p.Lys171Ter)
9g.27173285A>CCA373125492TEKc.824A>C (p.Lys275Thr)
c.383A>C (p.Lys128Thr)
c.512A>C (p.Lys171Thr)
9g.27173285A>GCA373125494TEKc.824A>G (p.Lys275Arg)
c.383A>G (p.Lys128Arg)
c.512A>G (p.Lys171Arg)
9g.27173285A>TCA373125497TEKc.824A>T (p.Lys275Met)
c.383A>T (p.Lys128Met)
c.512A>T (p.Lys171Met)
 gnomAD v4
9g.27173286G>ACA464168677TEKc.825G>A (p.Lys275=)
c.384G>A (p.Lys128=)
c.513G>A (p.Lys171=)
 dbSNP gnomAD v2 gnomAD v4
9g.27173286G>CCA373125501TEKc.825G>C (p.Lys275Asn)
c.384G>C (p.Lys128Asn)
c.513G>C (p.Lys171Asn)
9g.27173286G=CA1842021681TEKc.825G= (p.Lys275=)
c.384G= (p.Lys128=)
c.513G= (p.Lys171=)
9g.27173286G>TCA373125504TEKc.825G>T (p.Lys275Asn)
c.384G>T (p.Lys128Asn)
c.513G>T (p.Lys171Asn)
9g.27173287T>ACA373125508TEKc.826T>A (p.Ser276Thr)
c.385T>A (p.Ser129Thr)
c.514T>A (p.Ser172Thr)
9g.27173287T>CCA373125511TEKc.826T>C (p.Ser276Pro)
c.385T>C (p.Ser129Pro)
c.514T>C (p.Ser172Pro)
 gnomAD v4
9g.27173287T>GCA373125514TEKc.826T>G (p.Ser276Ala)
c.385T>G (p.Ser129Ala)
c.514T>G (p.Ser172Ala)
 dbSNP
9g.27173288C>ACA373125517TEKc.827C>A (p.Ser276Tyr)
c.386C>A (p.Ser129Tyr)
c.515C>A (p.Ser172Tyr)
9g.27173288C>GCA373125520TEKc.827C>G (p.Ser276Cys)
c.386C>G (p.Ser129Cys)
c.515C>G (p.Ser172Cys)
9g.27173288C>TCA373125523TEKc.827C>T (p.Ser276Phe)
c.386C>T (p.Ser129Phe)
c.515C>T (p.Ser172Phe)
9g.27173289T>ACA464168683TEKc.828T>A (p.Ser276=)
c.387T>A (p.Ser129=)
c.516T>A (p.Ser172=)
9g.27173289T>CCA464168681TEKc.828T>C (p.Ser276=)
c.387T>C (p.Ser129=)
c.516T>C (p.Ser172=)
9g.27173289T>GCA464168680TEKc.828T>G (p.Ser276=)
c.387T>G (p.Ser129=)
c.516T>G (p.Ser172=)
9g.27173290T>ACA373125528TEKc.829T>A (p.Tyr277Asn)
c.388T>A (p.Tyr130Asn)
c.517T>A (p.Tyr173Asn)
9g.27173290T>CCA373125531TEKc.829T>C (p.Tyr277His)
c.388T>C (p.Tyr130His)
c.517T>C (p.Tyr173His)
9g.27173290T>GCA373125526TEKc.829T>G (p.Tyr277Asp)
c.388T>G (p.Tyr130Asp)
c.517T>G (p.Tyr173Asp)
9g.27173291A=CA1842021684TEKc.830A= (p.Tyr277=)
c.389A= (p.Tyr130=)
c.518A= (p.Tyr173=)
9g.27173291A>CCA373125534TEKc.830A>C (p.Tyr277Ser)
c.389A>C (p.Tyr130Ser)
c.518A>C (p.Tyr173Ser)
9g.27173291A>GCA5016027TEKc.830A>G (p.Tyr277Cys)
c.389A>G (p.Tyr130Cys)
c.518A>G (p.Tyr173Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173291A>TCA373125539TEKc.830A>T (p.Tyr277Phe)
c.389A>T (p.Tyr130Phe)
c.518A>T (p.Tyr173Phe)
 dbSNP gnomAD v3 gnomAD v4
9g.27173292T>ACA373125542TEKc.831T>A (p.Tyr277Ter)
c.390T>A (p.Tyr130Ter)
c.519T>A (p.Tyr173Ter)
 gnomAD v4
9g.27173292T>CCA5016028TEKc.831T>C (p.Tyr277=)
c.390T>C (p.Tyr130=)
c.519T>C (p.Tyr173=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173292T>GCA373125548TEKc.831T>G (p.Tyr277Ter)
c.390T>G (p.Tyr130Ter)
c.519T>G (p.Tyr173Ter)
9g.27173292T=CA1842021685TEKc.831T= (p.Tyr277=)
c.390T= (p.Tyr130=)
c.519T= (p.Tyr173=)
9g.27173292_27173293insCCAACA2689641472TEKc.831_832insCCAA (p.Val278ProfsTer7)
c.390_391insCCAA (p.Val131ProfsTer7)
c.519_520insCCAA (p.Val174ProfsTer7)
 gnomAD v4
9g.27173293G>ACA373125550TEKc.832G>A (p.Val278Met)
c.391G>A (p.Val131Met)
c.520G>A (p.Val174Met)
9g.27173293G>CCA373125551TEKc.832G>C (p.Val278Leu)
c.391G>C (p.Val131Leu)
c.520G>C (p.Val174Leu)
9g.27173293G>TCA373125553TEKc.832G>T (p.Val278Leu)
c.391G>T (p.Val131Leu)
c.520G>T (p.Val174Leu)
9g.27173294T>ACA373125556TEKc.833T>A (p.Val278Glu)
c.392T>A (p.Val131Glu)
c.521T>A (p.Val174Glu)
9g.27173294T>CCA373125558TEKc.833T>C (p.Val278Ala)
c.392T>C (p.Val131Ala)
c.521T>C (p.Val174Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.27173294T>GCA373125560TEKc.833T>G (p.Val278Gly)
c.392T>G (p.Val131Gly)
c.521T>G (p.Val174Gly)
9g.27173294T=CA1842021689TEKc.833T= (p.Val278=)
c.392T= (p.Val131=)
c.521T= (p.Val174=)
9g.27173295G>ACA464168686TEKc.834G>A (p.Val278=)
c.393G>A (p.Val131=)
c.522G>A (p.Val174=)
9g.27173295G>CCA464168688TEKc.834G>C (p.Val278=)
c.393G>C (p.Val131=)
c.522G>C (p.Val174=)
9g.27173295G>TCA464168687TEKc.834G>T (p.Val278=)
c.393G>T (p.Val131=)
c.522G>T (p.Val174=)
9g.27173296T>ACA373125565TEKc.835T>A (p.Phe279Ile)
c.394T>A (p.Phe132Ile)
c.523T>A (p.Phe175Ile)
9g.27173296T>CCA5016029TEKc.835T>C (p.Phe279Leu)
c.394T>C (p.Phe132Leu)
c.523T>C (p.Phe175Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173296T>GCA373125563TEKc.835T>G (p.Phe279Val)
c.394T>G (p.Phe132Val)
c.523T>G (p.Phe175Val)
9g.27173296T=CA1842021693TEKc.835T= (p.Phe279=)
c.394T= (p.Phe132=)
c.523T= (p.Phe175=)
9g.27173297T>ACA373125568TEKc.836T>A (p.Phe279Tyr)
c.395T>A (p.Phe132Tyr)
c.524T>A (p.Phe175Tyr)
 gnomAD v4
9g.27173297T>CCA373125570TEKc.836T>C (p.Phe279Ser)
c.395T>C (p.Phe132Ser)
c.524T>C (p.Phe175Ser)
9g.27173297T>GCA373125572TEKc.836T>G (p.Phe279Cys)
c.395T>G (p.Phe132Cys)
c.524T>G (p.Phe175Cys)
9g.27173298C>ACA373125574TEKc.837C>A (p.Phe279Leu)
c.396C>A (p.Phe132Leu)
c.525C>A (p.Phe175Leu)
9g.27173298C=CA1842021698TEKc.837C= (p.Phe279=)
c.396C= (p.Phe132=)
c.525C= (p.Phe175=)
9g.27173298C>GCA373125576TEKc.837C>G (p.Phe279Leu)
c.396C>G (p.Phe132Leu)
c.525C>G (p.Phe175Leu)
9g.27173298C>TCA5016030TEKc.837C>T (p.Phe279=)
c.396C>T (p.Phe132=)
c.525C>T (p.Phe175=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173298_27173331delCA2783315799TEKc.837_870del (p.Phe279LeufsTer?)
c.837_870del (p.Phe279LeufsTer16)
c.396_429del (p.Phe132LeufsTer16)
c.525_558del (p.Phe175LeufsTer16)
9g.27173299T>ACA373125584TEKc.838T>A (p.Cys280Ser)
c.397T>A (p.Cys133Ser)
c.526T>A (p.Cys176Ser)
9g.27173299T>CCA373125580TEKc.838T>C (p.Cys280Arg)
c.397T>C (p.Cys133Arg)
c.526T>C (p.Cys176Arg)
9g.27173299T>GCA373125582TEKc.838T>G (p.Cys280Gly)
c.397T>G (p.Cys133Gly)
c.526T>G (p.Cys176Gly)
9g.27173300G>ACA5016031TEKc.839G>A (p.Cys280Tyr)
c.398G>A (p.Cys133Tyr)
c.527G>A (p.Cys176Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173300G>CCA373125587TEKc.839G>C (p.Cys280Ser)
c.398G>C (p.Cys133Ser)
c.527G>C (p.Cys176Ser)
9g.27173300G=CA1842021703TEKc.839G= (p.Cys280=)
c.398G= (p.Cys133=)
c.527G= (p.Cys176=)
9g.27173300G>TCA373125589TEKc.839G>T (p.Cys280Phe)
c.398G>T (p.Cys133Phe)
c.527G>T (p.Cys176Phe)
9g.27173301T>ACA373125591TEKc.840T>A (p.Cys280Ter)
c.399T>A (p.Cys133Ter)
c.528T>A (p.Cys176Ter)
9g.27173301T>CCA464168689TEKc.840T>C (p.Cys280=)
c.399T>C (p.Cys133=)
c.528T>C (p.Cys176=)
9g.27173301T>GCA373125593TEKc.840T>G (p.Cys280Trp)
c.399T>G (p.Cys133Trp)
c.528T>G (p.Cys176Trp)
9g.27173302C>ACA373125598TEKc.841C>A (p.Leu281Ile)
c.400C>A (p.Leu134Ile)
c.529C>A (p.Leu177Ile)
 gnomAD v4
9g.27173302C>GCA373125596TEKc.841C>G (p.Leu281Val)
c.400C>G (p.Leu134Val)
c.529C>G (p.Leu177Val)
9g.27173302C>TCA373125595TEKc.841C>T (p.Leu281Phe)
c.400C>T (p.Leu134Phe)
c.529C>T (p.Leu177Phe)
9g.27173303T>ACA373125599TEKc.842T>A (p.Leu281His)
c.401T>A (p.Leu134His)
c.530T>A (p.Leu177His)
9g.27173303T>CCA373125602TEKc.842T>C (p.Leu281Pro)
c.401T>C (p.Leu134Pro)
c.530T>C (p.Leu177Pro)
9g.27173303T>GCA373125600TEKc.842T>G (p.Leu281Arg)
c.401T>G (p.Leu134Arg)
c.530T>G (p.Leu177Arg)
9g.27173304C>ACA464168690TEKc.843C>A (p.Leu281=)
c.402C>A (p.Leu134=)
c.531C>A (p.Leu177=)
9g.27173304C=CA1842021707TEKc.843C= (p.Leu281=)
c.402C= (p.Leu134=)
c.531C= (p.Leu177=)
9g.27173304C>GCA464168691TEKc.843C>G (p.Leu281=)
c.402C>G (p.Leu134=)
c.531C>G (p.Leu177=)
9g.27173304C>TCA464168692TEKc.843C>T (p.Leu281=)
c.402C>T (p.Leu134=)
c.531C>T (p.Leu177=)
 dbSNP gnomAD v4
9g.27173305C>ACA373125603TEKc.844C>A (p.Pro282Thr)
c.403C>A (p.Pro135Thr)
c.532C>A (p.Pro178Thr)
9g.27173305C>GCA373125606TEKc.844C>G (p.Pro282Ala)
c.403C>G (p.Pro135Ala)
c.532C>G (p.Pro178Ala)
9g.27173305C>TCA373125604TEKc.844C>T (p.Pro282Ser)
c.403C>T (p.Pro135Ser)
c.532C>T (p.Pro178Ser)
9g.27173306C>ACA373125608TEKc.845C>A (p.Pro282His)
c.404C>A (p.Pro135His)
c.533C>A (p.Pro178His)
9g.27173306C>GCA373125610TEKc.845C>G (p.Pro282Arg)
c.404C>G (p.Pro135Arg)
c.533C>G (p.Pro178Arg)
9g.27173306C>TCA373125612TEKc.845C>T (p.Pro282Leu)
c.404C>T (p.Pro135Leu)
c.533C>T (p.Pro178Leu)
9g.27173307T>ACA464168693TEKc.846T>A (p.Pro282=)
c.405T>A (p.Pro135=)
c.534T>A (p.Pro178=)
 gnomAD v4
9g.27173307T>CCA464168694TEKc.846T>C (p.Pro282=)
c.405T>C (p.Pro135=)
c.534T>C (p.Pro178=)
9g.27173307T>GCA464168695TEKc.846T>G (p.Pro282=)
c.405T>G (p.Pro135=)
c.534T>G (p.Pro178=)
9g.27173308G>ACA373125613TEKc.847G>A (p.Asp283Asn)
c.406G>A (p.Asp136Asn)
c.535G>A (p.Asp179Asn)
9g.27173308G>CCA373125616TEKc.847G>C (p.Asp283His)
c.406G>C (p.Asp136His)
c.535G>C (p.Asp179His)
9g.27173308G>TCA373125618TEKc.847G>T (p.Asp283Tyr)
c.406G>T (p.Asp136Tyr)
c.535G>T (p.Asp179Tyr)
9g.27173309delCA464168696TEKc.848del (p.Asp283AlafsTer?)
c.848del (p.Asp283AlafsTer23)
c.407del (p.Asp136AlafsTer23)
c.536del (p.Asp179AlafsTer23)
9g.27173309A>CCA373125622TEKc.848A>C (p.Asp283Ala)
c.407A>C (p.Asp136Ala)
c.536A>C (p.Asp179Ala)
9g.27173309A>GCA373125625TEKc.848A>G (p.Asp283Gly)
c.407A>G (p.Asp136Gly)
c.536A>G (p.Asp179Gly)
9g.27173309A>TCA373125626TEKc.848A>T (p.Asp283Val)
c.407A>T (p.Asp136Val)
c.536A>T (p.Asp179Val)
9g.27173310C>ACA373125630TEKc.849C>A (p.Asp283Glu)
c.408C>A (p.Asp136Glu)
c.537C>A (p.Asp179Glu)
9g.27173310C>GCA373125633TEKc.849C>G (p.Asp283Glu)
c.408C>G (p.Asp136Glu)
c.537C>G (p.Asp179Glu)
9g.27173310C>TCA464168697TEKc.849C>T (p.Asp283=)
c.408C>T (p.Asp136=)
c.537C>T (p.Asp179=)
 gnomAD v4
9g.27173311C>ACA373125648TEKc.850C>A (p.Pro284Thr)
c.409C>A (p.Pro137Thr)
c.538C>A (p.Pro180Thr)
9g.27173311C>GCA373125645TEKc.850C>G (p.Pro284Ala)
c.409C>G (p.Pro137Ala)
c.538C>G (p.Pro180Ala)
9g.27173311C>TCA373125642TEKc.850C>T (p.Pro284Ser)
c.409C>T (p.Pro137Ser)
c.538C>T (p.Pro180Ser)
9g.27173312C>ACA373125654TEKc.851C>A (p.Pro284His)
c.410C>A (p.Pro137His)
c.539C>A (p.Pro180His)
9g.27173312C>GCA373125657TEKc.851C>G (p.Pro284Arg)
c.410C>G (p.Pro137Arg)
c.539C>G (p.Pro180Arg)
9g.27173312C>TCA373125659TEKc.851C>T (p.Pro284Leu)
c.410C>T (p.Pro137Leu)
c.539C>T (p.Pro180Leu)
9g.27173313C>ACA464168699TEKc.852C>A (p.Pro284=)
c.411C>A (p.Pro137=)
c.540C>A (p.Pro180=)
9g.27173313C=CA1842021710TEKc.852C= (p.Pro284=)
c.411C= (p.Pro137=)
c.540C= (p.Pro180=)
9g.27173313C>GCA464168700TEKc.852C>G (p.Pro284=)
c.411C>G (p.Pro137=)
c.540C>G (p.Pro180=)
 gnomAD v4
9g.27173313C>TCA5016032TEKc.852C>T (p.Pro284=)
c.411C>T (p.Pro137=)
c.540C>T (p.Pro180=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173314delCA2689641473TEKc.853del (p.Tyr285MetfsTer?)
c.853del (p.Tyr285MetfsTer21)
c.412del (p.Tyr138MetfsTer21)
c.541del (p.Tyr181MetfsTer21)
 gnomAD v4
9g.27173314T>ACA373125673TEKc.853T>A (p.Tyr285Asn)
c.412T>A (p.Tyr138Asn)
c.541T>A (p.Tyr181Asn)
9g.27173314T>CCA373125675TEKc.853T>C (p.Tyr285His)
c.412T>C (p.Tyr138His)
c.541T>C (p.Tyr181His)
9g.27173314T>GCA373125679TEKc.853T>G (p.Tyr285Asp)
c.412T>G (p.Tyr138Asp)
c.541T>G (p.Tyr181Asp)
9g.27173315A=CA1842021712TEKc.854A= (p.Tyr285=)
c.413A= (p.Tyr138=)
c.542A= (p.Tyr181=)
9g.27173315A>CCA373125684TEKc.854A>C (p.Tyr285Ser)
c.413A>C (p.Tyr138Ser)
c.542A>C (p.Tyr181Ser)
9g.27173315A>GCA373125687TEKc.854A>G (p.Tyr285Cys)
c.413A>G (p.Tyr138Cys)
c.542A>G (p.Tyr181Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.27173315A>TCA373125696TEKc.854A>T (p.Tyr285Phe)
c.413A>T (p.Tyr138Phe)
c.542A>T (p.Tyr181Phe)
9g.27173316T>ACA373125698TEKc.855T>A (p.Tyr285Ter)
c.414T>A (p.Tyr138Ter)
c.543T>A (p.Tyr181Ter)
9g.27173316T>CCA464168704TEKc.855T>C (p.Tyr285=)
c.414T>C (p.Tyr138=)
c.543T>C (p.Tyr181=)
 dbSNP gnomAD v4
9g.27173316T>GCA373125702TEKc.855T>G (p.Tyr285Ter)
c.414T>G (p.Tyr138Ter)
c.543T>G (p.Tyr181Ter)
9g.27173316T=CA1842021718TEKc.855T= (p.Tyr285=)
c.414T= (p.Tyr138=)
c.543T= (p.Tyr181=)
9g.27173317G>ACA5016033TEKc.856G>A (p.Gly286Arg)
c.415G>A (p.Gly139Arg)
c.544G>A (p.Gly182Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173317G>CCA373125708TEKc.856G>C (p.Gly286Arg)
c.415G>C (p.Gly139Arg)
c.544G>C (p.Gly182Arg)
9g.27173317G=CA1842021722TEKc.856G= (p.Gly286=)
c.415G= (p.Gly139=)
c.544G= (p.Gly182=)
9g.27173317G>TCA373125706TEKc.856G>T (p.Gly286Trp)
c.415G>T (p.Gly139Trp)
c.544G>T (p.Gly182Trp)
9g.27173318G>ACA373125720TEKc.857G>A (p.Gly286Glu)
c.416G>A (p.Gly139Glu)
c.545G>A (p.Gly182Glu)
9g.27173318G>CCA373125715TEKc.857G>C (p.Gly286Ala)
c.416G>C (p.Gly139Ala)
c.545G>C (p.Gly182Ala)
9g.27173318G>TCA373125717TEKc.857G>T (p.Gly286Val)
c.416G>T (p.Gly139Val)
c.545G>T (p.Gly182Val)
 ClinVar dbSNP
9g.27173319G>ACA464168706TEKc.858G>A (p.Gly286=)
c.417G>A (p.Gly139=)
c.546G>A (p.Gly182=)
9g.27173319G>CCA464168707TEKc.858G>C (p.Gly286=)
c.417G>C (p.Gly139=)
c.546G>C (p.Gly182=)
 COSMIC COSMIC
9g.27173319G=CA1842021726TEKc.858G= (p.Gly286=)
c.417G= (p.Gly139=)
c.546G= (p.Gly182=)
9g.27173319G>TCA5016034TEKc.858G>T (p.Gly286=)
c.417G>T (p.Gly139=)
c.546G>T (p.Gly182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173320T>ACA373125727TEKc.859T>A (p.Cys287Ser)
c.418T>A (p.Cys140Ser)
c.547T>A (p.Cys183Ser)
9g.27173320T>CCA373125729TEKc.859T>C (p.Cys287Arg)
c.418T>C (p.Cys140Arg)
c.547T>C (p.Cys183Arg)
9g.27173320T>GCA373125731TEKc.859T>G (p.Cys287Gly)
c.418T>G (p.Cys140Gly)
c.547T>G (p.Cys183Gly)
9g.27173321G>ACA373125741TEKc.860G>A (p.Cys287Tyr)
c.419G>A (p.Cys140Tyr)
c.548G>A (p.Cys183Tyr)
9g.27173321G>CCA373125734TEKc.860G>C (p.Cys287Ser)
c.419G>C (p.Cys140Ser)
c.548G>C (p.Cys183Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.27173321G=CA1842021733TEKc.860G= (p.Cys287=)
c.419G= (p.Cys140=)
c.548G= (p.Cys183=)
9g.27173321G>TCA373125738TEKc.860G>T (p.Cys287Phe)
c.419G>T (p.Cys140Phe)
c.548G>T (p.Cys183Phe)
9g.27173322T>ACA373125745TEKc.861T>A (p.Cys287Ter)
c.420T>A (p.Cys140Ter)
c.549T>A (p.Cys183Ter)
9g.27173322T>CCA464168710TEKc.861T>C (p.Cys287=)
c.420T>C (p.Cys140=)
c.549T>C (p.Cys183=)
9g.27173322T>GCA373125748TEKc.861T>G (p.Cys287Trp)
c.420T>G (p.Cys140Trp)
c.549T>G (p.Cys183Trp)
9g.27173323T>ACA373125752TEKc.862T>A (p.Ser288Thr)
c.421T>A (p.Ser141Thr)
c.550T>A (p.Ser184Thr)
9g.27173323T>CCA373125755TEKc.862T>C (p.Ser288Pro)
c.421T>C (p.Ser141Pro)
c.550T>C (p.Ser184Pro)
9g.27173323T>GCA373125757TEKc.862T>G (p.Ser288Ala)
c.421T>G (p.Ser141Ala)
c.550T>G (p.Ser184Ala)
9g.27173324C>ACA373125762TEKc.863C>A (p.Ser288Tyr)
c.422C>A (p.Ser141Tyr)
c.551C>A (p.Ser184Tyr)
 dbSNP
9g.27173324C>GCA373125769TEKc.863C>G (p.Ser288Cys)
c.422C>G (p.Ser141Cys)
c.551C>G (p.Ser184Cys)
9g.27173324C>TCA373125765TEKc.863C>T (p.Ser288Phe)
c.422C>T (p.Ser141Phe)
c.551C>T (p.Ser184Phe)
9g.27173325delCA2689641474TEKc.864del (p.Cys289ValfsTer?)
c.864del (p.Cys289ValfsTer17)
c.423del (p.Cys142ValfsTer17)
c.552del (p.Cys185ValfsTer17)
 gnomAD v4
9g.27173325C>ACA464168712TEKc.864C>A (p.Ser288=)
c.423C>A (p.Ser141=)
c.552C>A (p.Ser184=)
9g.27173325C>GCA464168713TEKc.864C>G (p.Ser288=)
c.423C>G (p.Ser141=)
c.552C>G (p.Ser184=)
9g.27173325C>TCA464168714TEKc.864C>T (p.Ser288=)
c.423C>T (p.Ser141=)
c.552C>T (p.Ser184=)
 COSMIC COSMIC
9g.27173326T>ACA373125773TEKc.865T>A (p.Cys289Ser)
c.424T>A (p.Cys142Ser)
c.553T>A (p.Cys185Ser)
9g.27173326T>CCA373125776TEKc.865T>C (p.Cys289Arg)
c.424T>C (p.Cys142Arg)
c.553T>C (p.Cys185Arg)
9g.27173326T>GCA373125779TEKc.865T>G (p.Cys289Gly)
c.424T>G (p.Cys142Gly)
c.553T>G (p.Cys185Gly)
9g.27173327G>ACA373125785TEKc.866G>A (p.Cys289Tyr)
c.425G>A (p.Cys142Tyr)
c.554G>A (p.Cys185Tyr)
 dbSNP
9g.27173327G>CCA373125788TEKc.866G>C (p.Cys289Ser)
c.425G>C (p.Cys142Ser)
c.554G>C (p.Cys185Ser)
9g.27173327G=CA1842021738TEKc.866G= (p.Cys289=)
c.425G= (p.Cys142=)
c.554G= (p.Cys185=)
9g.27173327G>TCA373125790TEKc.866G>T (p.Cys289Phe)
c.425G>T (p.Cys142Phe)
c.554G>T (p.Cys185Phe)

Number of alleles fetched