Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.38675762G>ACA412982176TSPAN7c.499G>A (p.Glu167Lys)
c.550G>A (p.Glu184Lys)
n.443G>A
c.589G>A (p.Glu197Lys)
c.*525G>A (n.*525G>A)
c.*492G>A (n.*492G>A)
n.682G>A
Xg.38675762G>CCA412982177TSPAN7c.499G>C (p.Glu167Gln)
c.550G>C (p.Glu184Gln)
n.443G>C
c.589G>C (p.Glu197Gln)
c.*525G>C (n.*525G>C)
c.*492G>C (n.*492G>C)
n.682G>C
Xg.38675762G>TCA412982178TSPAN7c.499G>T (p.Glu167Ter)
c.550G>T (p.Glu184Ter)
n.443G>T
c.589G>T (p.Glu197Ter)
c.*525G>T (n.*525G>T)
c.*492G>T (n.*492G>T)
n.682G>T
Xg.38675763A>CCA412982179TSPAN7c.500A>C (p.Glu167Ala)
c.551A>C (p.Glu184Ala)
n.444A>C
c.590A>C (p.Glu197Ala)
c.*526A>C (n.*526A>C)
c.*493A>C (n.*493A>C)
n.683A>C
Xg.38675763A>GCA412982180TSPAN7c.500A>G (p.Glu167Gly)
c.551A>G (p.Glu184Gly)
n.444A>G
c.590A>G (p.Glu197Gly)
c.*526A>G (n.*526A>G)
c.*493A>G (n.*493A>G)
n.683A>G
Xg.38675763A>TCA412982181TSPAN7c.500A>T (p.Glu167Val)
c.551A>T (p.Glu184Val)
n.444A>T
c.590A>T (p.Glu197Val)
c.*526A>T (n.*526A>T)
c.*493A>T (n.*493A>T)
n.683A>T
Xg.38675764G>ACA515685228TSPAN7c.501G>A (p.Glu167=)
c.552G>A (p.Glu184=)
n.445G>A
c.591G>A (p.Glu197=)
c.*527G>A (n.*527G>A)
c.*494G>A (n.*494G>A)
n.684G>A
Xg.38675764G>CCA412982183TSPAN7c.501G>C (p.Glu167Asp)
c.552G>C (p.Glu184Asp)
n.445G>C
c.591G>C (p.Glu197Asp)
c.*527G>C (n.*527G>C)
c.*494G>C (n.*494G>C)
n.684G>C
Xg.38675764G>TCA412982182TSPAN7c.501G>T (p.Glu167Asp)
c.552G>T (p.Glu184Asp)
n.445G>T
c.591G>T (p.Glu197Asp)
c.*527G>T (n.*527G>T)
c.*494G>T (n.*494G>T)
n.684G>T
Xg.38675765C>ACA412982184TSPAN7c.502C>A (p.His168Asn)
c.553C>A (p.His185Asn)
n.446C>A
c.592C>A (p.His198Asn)
c.*528C>A (n.*528C>A)
c.*495C>A (n.*495C>A)
n.685C>A
Xg.38675765C>GCA412982185TSPAN7c.502C>G (p.His168Asp)
c.553C>G (p.His185Asp)
n.446C>G
c.592C>G (p.His198Asp)
c.*528C>G (n.*528C>G)
c.*495C>G (n.*495C>G)
n.685C>G
Xg.38675765C>TCA412982186TSPAN7c.502C>T (p.His168Tyr)
c.553C>T (p.His185Tyr)
n.446C>T
c.592C>T (p.His198Tyr)
c.*528C>T (n.*528C>T)
c.*495C>T (n.*495C>T)
n.685C>T
Xg.38675766A=CA2424970042TSPAN7c.503A= (p.His168=)
c.554A= (p.His185=)
n.447A=
c.593A= (p.His198=)
c.*529A= (n.*529A=)
c.*496A= (n.*496A=)
n.686A=
Xg.38675766A>CCA412982187TSPAN7c.503A>C (p.His168Pro)
c.554A>C (p.His185Pro)
n.447A>C
c.593A>C (p.His198Pro)
c.*529A>C (n.*529A>C)
c.*496A>C (n.*496A>C)
n.686A>C
Xg.38675766A>GCA10386114TSPAN7c.503A>G (p.His168Arg)
c.554A>G (p.His185Arg)
n.447A>G
c.593A>G (p.His198Arg)
c.*529A>G (n.*529A>G)
c.*496A>G (n.*496A>G)
n.686A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675766A>TCA412982188TSPAN7c.503A>T (p.His168Leu)
c.554A>T (p.His185Leu)
n.447A>T
c.593A>T (p.His198Leu)
c.*529A>T (n.*529A>T)
c.*496A>T (n.*496A>T)
n.686A>T
Xg.38675767T>ACA412982190TSPAN7c.504T>A (p.His168Gln)
c.555T>A (p.His185Gln)
n.448T>A
c.594T>A (p.His198Gln)
c.*530T>A (n.*530T>A)
c.*497T>A (n.*497T>A)
n.687T>A
Xg.38675767T>CCA515685239TSPAN7c.504T>C (p.His168=)
c.555T>C (p.His185=)
n.448T>C
c.594T>C (p.His198=)
c.*530T>C (n.*530T>C)
c.*497T>C (n.*497T>C)
n.687T>C
Xg.38675767T>GCA412982189TSPAN7c.504T>G (p.His168Gln)
c.555T>G (p.His185Gln)
n.448T>G
c.594T>G (p.His198Gln)
c.*530T>G (n.*530T>G)
c.*497T>G (n.*497T>G)
n.687T>G
Xg.38675768G>ACA412982191TSPAN7c.505G>A (p.Gly169Ser)
c.556G>A (p.Gly186Ser)
n.449G>A
c.595G>A (p.Gly199Ser)
c.*531G>A (n.*531G>A)
c.*498G>A (n.*498G>A)
n.688G>A
Xg.38675768G>CCA412982192TSPAN7c.505G>C (p.Gly169Arg)
c.556G>C (p.Gly186Arg)
n.449G>C
c.595G>C (p.Gly199Arg)
c.*531G>C (n.*531G>C)
c.*498G>C (n.*498G>C)
n.688G>C
Xg.38675768G>TCA412982193TSPAN7c.505G>T (p.Gly169Cys)
c.556G>T (p.Gly186Cys)
n.449G>T
c.595G>T (p.Gly199Cys)
c.*531G>T (n.*531G>T)
c.*498G>T (n.*498G>T)
n.688G>T
Xg.38675769G>ACA412982194TSPAN7c.506G>A (p.Gly169Asp)
c.557G>A (p.Gly186Asp)
n.450G>A
c.596G>A (p.Gly199Asp)
c.*532G>A (n.*532G>A)
c.*499G>A (n.*499G>A)
n.689G>A
Xg.38675769G>CCA412982195TSPAN7c.506G>C (p.Gly169Ala)
c.557G>C (p.Gly186Ala)
n.450G>C
c.596G>C (p.Gly199Ala)
c.*532G>C (n.*532G>C)
c.*499G>C (n.*499G>C)
n.689G>C
Xg.38675769G>TCA412982196TSPAN7c.506G>T (p.Gly169Val)
c.557G>T (p.Gly186Val)
n.450G>T
c.596G>T (p.Gly199Val)
c.*532G>T (n.*532G>T)
c.*499G>T (n.*499G>T)
n.689G>T
Xg.38675770C>ACA515685252TSPAN7c.507C>A (p.Gly169=)
c.558C>A (p.Gly186=)
n.451C>A
c.597C>A (p.Gly199=)
c.*533C>A (n.*533C>A)
c.*500C>A (n.*500C>A)
n.690C>A
Xg.38675770C>GCA515685248TSPAN7c.507C>G (p.Gly169=)
c.558C>G (p.Gly186=)
n.451C>G
c.597C>G (p.Gly199=)
c.*533C>G (n.*533C>G)
c.*500C>G (n.*500C>G)
n.690C>G
Xg.38675770C>TCA515685250TSPAN7c.507C>T (p.Gly169=)
c.558C>T (p.Gly186=)
n.451C>T
c.597C>T (p.Gly199=)
c.*533C>T (n.*533C>T)
c.*500C>T (n.*500C>T)
n.690C>T
Xg.38675771A>CCA412982197TSPAN7c.508A>C (p.Ile170Leu)
c.559A>C (p.Ile187Leu)
n.452A>C
c.598A>C (p.Ile200Leu)
c.*534A>C (n.*534A>C)
c.*501A>C (n.*501A>C)
n.691A>C
Xg.38675771A>GCA412982199TSPAN7c.508A>G (p.Ile170Val)
c.559A>G (p.Ile187Val)
n.452A>G
c.598A>G (p.Ile200Val)
c.*534A>G (n.*534A>G)
c.*501A>G (n.*501A>G)
n.691A>G
Xg.38675771A>TCA412982198TSPAN7c.508A>T (p.Ile170Phe)
c.559A>T (p.Ile187Phe)
n.452A>T
c.598A>T (p.Ile200Phe)
c.*534A>T (n.*534A>T)
c.*501A>T (n.*501A>T)
n.691A>T
Xg.38675772T>ACA412982200TSPAN7c.509T>A (p.Ile170Asn)
c.560T>A (p.Ile187Asn)
n.453T>A
c.599T>A (p.Ile200Asn)
c.*535T>A (n.*535T>A)
c.*502T>A (n.*502T>A)
n.692T>A
Xg.38675772T>CCA412982201TSPAN7c.509T>C (p.Ile170Thr)
c.560T>C (p.Ile187Thr)
n.453T>C
c.599T>C (p.Ile200Thr)
c.*535T>C (n.*535T>C)
c.*502T>C (n.*502T>C)
n.692T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675772T>GCA412982202TSPAN7c.509T>G (p.Ile170Ser)
c.560T>G (p.Ile187Ser)
n.453T>G
c.599T>G (p.Ile200Ser)
c.*535T>G (n.*535T>G)
c.*502T>G (n.*502T>G)
n.692T>G
Xg.38675772T=CA2424970044TSPAN7c.509T= (p.Ile170=)
c.560T= (p.Ile187=)
n.453T=
c.599T= (p.Ile200=)
c.*535T= (n.*535T=)
c.*502T= (n.*502T=)
n.692T=
Xg.38675772_38675773delinsTCCA2424970043TSPAN7c.509_510delinsTC (p.Ile170=)
c.560_561delinsTC (p.Ile187=)
n.453_454delinsTC
c.599_600delinsTC (p.Ile200=)
c.*535_*536delinsTC (n.*535_*536delinsTC)
c.*502_*503delinsTC (n.*502_*503delinsTC)
n.692_693delinsTC
Xg.38675773C>ACA515685269TSPAN7c.510C>A (p.Ile170=)
c.561C>A (p.Ile187=)
n.454C>A
c.600C>A (p.Ile200=)
c.*536C>A (n.*536C>A)
c.*503C>A (n.*503C>A)
n.693C>A
Xg.38675773C>GCA412982203TSPAN7c.510C>G (p.Ile170Met)
c.561C>G (p.Ile187Met)
n.454C>G
c.600C>G (p.Ile200Met)
c.*536C>G (n.*536C>G)
c.*503C>G (n.*503C>G)
n.693C>G
Xg.38675773C>TCA515685268TSPAN7c.510C>T (p.Ile170=)
c.561C>T (p.Ile187=)
n.454C>T
c.600C>T (p.Ile200=)
c.*536C>T (n.*536C>T)
c.*503C>T (n.*503C>T)
n.693C>T
gnomAD v4 COSMIC COSMIC
Xg.38675779dupCA10386115TSPAN7c.516dup (p.Ser173GlnfsTer8)
c.567dup (p.Ser190GlnfsTer8)
n.460dup
c.606dup (p.Ser203GlnfsTer8)
c.*542dup (n.*542dup)
c.*509dup (n.*509dup)
n.699dup
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.38675779delCA10386116TSPAN7c.516del (p.Ser173AlafsTer4)
c.567del (p.Ser190AlafsTer4)
n.460del
c.606del (p.Ser203AlafsTer4)
c.*542del (n.*542del)
c.*509del (n.*509del)
n.699del
ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC
Xg.38675774C>ACA412982204TSPAN7c.511C>A (p.Pro171Thr)
c.562C>A (p.Pro188Thr)
n.455C>A
c.601C>A (p.Pro201Thr)
c.*537C>A (n.*537C>A)
c.*504C>A (n.*504C>A)
n.694C>A
Xg.38675774C>GCA412982205TSPAN7c.511C>G (p.Pro171Ala)
c.562C>G (p.Pro188Ala)
n.455C>G
c.601C>G (p.Pro201Ala)
c.*537C>G (n.*537C>G)
c.*504C>G (n.*504C>G)
n.694C>G
Xg.38675774C>TCA412982206TSPAN7c.511C>T (p.Pro171Ser)
c.562C>T (p.Pro188Ser)
n.455C>T
c.601C>T (p.Pro201Ser)
c.*537C>T (n.*537C>T)
c.*504C>T (n.*504C>T)
n.694C>T
Xg.38675775C>ACA328161070TSPAN7c.512C>A (p.Pro171His)
c.563C>A (p.Pro188His)
n.456C>A
c.602C>A (p.Pro201His)
c.*538C>A (n.*538C>A)
c.*505C>A (n.*505C>A)
n.695C>A
dbSNP
Xg.38675775C=CA2424970045TSPAN7c.512C= (p.Pro171=)
c.563C= (p.Pro188=)
n.456C=
c.602C= (p.Pro201=)
c.*538C= (n.*538C=)
c.*505C= (n.*505C=)
n.695C=
Xg.38675775C>GCA412982207TSPAN7c.512C>G (p.Pro171Arg)
c.563C>G (p.Pro188Arg)
n.456C>G
c.602C>G (p.Pro201Arg)
c.*538C>G (n.*538C>G)
c.*505C>G (n.*505C>G)
n.695C>G
dbSNP
Xg.38675775C>TCA412982208TSPAN7c.512C>T (p.Pro171Leu)
c.563C>T (p.Pro188Leu)
n.456C>T
c.602C>T (p.Pro201Leu)
c.*538C>T (n.*538C>T)
c.*505C>T (n.*505C>T)
n.695C>T
COSMIC COSMIC COSMIC
Xg.38675776C>ACA515685279TSPAN7c.513C>A (p.Pro171=)
c.564C>A (p.Pro188=)
n.457C>A
c.603C>A (p.Pro201=)
c.*539C>A (n.*539C>A)
c.*506C>A (n.*506C>A)
n.696C>A
Xg.38675776C>GCA515685282TSPAN7c.513C>G (p.Pro171=)
c.564C>G (p.Pro188=)
n.457C>G
c.603C>G (p.Pro201=)
c.*539C>G (n.*539C>G)
c.*506C>G (n.*506C>G)
n.696C>G
Xg.38675776C>TCA515685284TSPAN7c.513C>T (p.Pro171=)
c.564C>T (p.Pro188=)
n.457C>T
c.603C>T (p.Pro201=)
c.*539C>T (n.*539C>T)
c.*506C>T (n.*506C>T)
n.696C>T
gnomAD v4
Xg.38675777C>ACA10386118TSPAN7c.514C>A (p.Pro172Thr)
c.565C>A (p.Pro189Thr)
n.458C>A
c.604C>A (p.Pro202Thr)
c.*540C>A (n.*540C>A)
c.*507C>A (n.*507C>A)
n.697C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675777C=CA2424970046TSPAN7c.514C= (p.Pro172=)
c.565C= (p.Pro189=)
n.458C=
c.604C= (p.Pro202=)
c.*540C= (n.*540C=)
c.*507C= (n.*507C=)
n.697C=
Xg.38675777C>GCA10386119TSPAN7c.514C>G (p.Pro172Ala)
c.565C>G (p.Pro189Ala)
n.458C>G
c.604C>G (p.Pro202Ala)
c.*540C>G (n.*540C>G)
c.*507C>G (n.*507C>G)
n.697C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675777C>TCA10386117TSPAN7c.514C>T (p.Pro172Ser)
c.565C>T (p.Pro189Ser)
n.458C>T
c.604C>T (p.Pro202Ser)
c.*540C>T (n.*540C>T)
c.*507C>T (n.*507C>T)
n.697C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675778C>ACA121626TSPAN7c.515C>A (p.Pro172His)
c.566C>A (p.Pro189His)
n.459C>A
c.605C>A (p.Pro202His)
c.*541C>A (n.*541C>A)
c.*508C>A (n.*508C>A)
n.698C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675778C=CA2424970047TSPAN7c.515C= (p.Pro172=)
c.566C= (p.Pro189=)
n.459C=
c.605C= (p.Pro202=)
c.*541C= (n.*541C=)
c.*508C= (n.*508C=)
n.698C=
Xg.38675778C>GCA10386120TSPAN7c.515C>G (p.Pro172Arg)
c.566C>G (p.Pro189Arg)
n.459C>G
c.605C>G (p.Pro202Arg)
c.*541C>G (n.*541C>G)
c.*508C>G (n.*508C>G)
n.698C>G
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.38675778C>TCA412982209TSPAN7c.515C>T (p.Pro172Leu)
c.566C>T (p.Pro189Leu)
n.459C>T
c.605C>T (p.Pro202Leu)
c.*541C>T (n.*541C>T)
c.*508C>T (n.*508C>T)
n.698C>T
Xg.38675779C>ACA10386121TSPAN7c.516C>A (p.Pro172=)
c.567C>A (p.Pro189=)
n.460C>A
c.606C>A (p.Pro202=)
c.*542C>A (n.*542C>A)
c.*509C>A (n.*509C>A)
n.699C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675779C=CA2424970048TSPAN7c.516C= (p.Pro172=)
c.567C= (p.Pro189=)
n.460C=
c.606C= (p.Pro202=)
c.*542C= (n.*542C=)
c.*509C= (n.*509C=)
n.699C=
Xg.38675779C>GCA515685293TSPAN7c.516C>G (p.Pro172=)
c.567C>G (p.Pro189=)
n.460C>G
c.606C>G (p.Pro202=)
c.*542C>G (n.*542C>G)
c.*509C>G (n.*509C>G)
n.699C>G
gnomAD v4
Xg.38675779C>TCA10386122TSPAN7c.516C>T (p.Pro172=)
c.567C>T (p.Pro189=)
n.460C>T
c.606C>T (p.Pro202=)
c.*542C>T (n.*542C>T)
c.*509C>T (n.*509C>T)
n.699C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675779_38675780insCAAACACACCCAACACCA2820495006TSPAN7c.516_517insCAAACACACCCAACAC (p.Ser173GlnfsTer13)
c.567_568insCAAACACACCCAACAC (p.Ser190GlnfsTer13)
n.460_461insCAAACACACCCAACAC
c.606_607insCAAACACACCCAACAC (p.Ser203GlnfsTer13)
c.*542_*543insCAAACACACCCAACAC (n.*542_*543insCAAACACACCCAACAC)
c.*509_*510insCAAACACACCCAACAC (n.*509_*510insCAAACACACCCAACAC)
n.699_700insCAAACACACCCAACAC
Xg.38675780A>CCA412982210TSPAN7c.517A>C (p.Ser173Arg)
c.568A>C (p.Ser190Arg)
n.461A>C
c.607A>C (p.Ser203Arg)
c.*543A>C (n.*543A>C)
c.*510A>C (n.*510A>C)
n.700A>C
Xg.38675780A>GCA412982212TSPAN7c.517A>G (p.Ser173Gly)
c.568A>G (p.Ser190Gly)
n.461A>G
c.607A>G (p.Ser203Gly)
c.*543A>G (n.*543A>G)
c.*510A>G (n.*510A>G)
n.700A>G
Xg.38675780A>TCA412982211TSPAN7c.517A>T (p.Ser173Cys)
c.568A>T (p.Ser190Cys)
n.461A>T
c.607A>T (p.Ser203Cys)
c.*543A>T (n.*543A>T)
c.*510A>T (n.*510A>T)
n.700A>T
Xg.38675781G>ACA412982213TSPAN7c.518G>A (p.Ser173Asn)
c.569G>A (p.Ser190Asn)
n.462G>A
c.608G>A (p.Ser203Asn)
c.*544G>A (n.*544G>A)
c.*511G>A (n.*511G>A)
n.701G>A
gnomAD v4
Xg.38675781G>CCA412982215TSPAN7c.518G>C (p.Ser173Thr)
c.569G>C (p.Ser190Thr)
n.462G>C
c.608G>C (p.Ser203Thr)
c.*544G>C (n.*544G>C)
c.*511G>C (n.*511G>C)
n.701G>C
Xg.38675781G>TCA412982214TSPAN7c.518G>T (p.Ser173Ile)
c.569G>T (p.Ser190Ile)
n.462G>T
c.608G>T (p.Ser203Ile)
c.*544G>T (n.*544G>T)
c.*511G>T (n.*511G>T)
n.701G>T
Xg.38675782C>ACA412982216TSPAN7c.519C>A (p.Ser173Arg)
c.570C>A (p.Ser190Arg)
n.463C>A
c.609C>A (p.Ser203Arg)
c.*545C>A (n.*545C>A)
c.*512C>A (n.*512C>A)
n.702C>A
Xg.38675782C>GCA412982217TSPAN7c.519C>G (p.Ser173Arg)
c.570C>G (p.Ser190Arg)
n.463C>G
c.609C>G (p.Ser203Arg)
c.*545C>G (n.*545C>G)
c.*512C>G (n.*512C>G)
n.702C>G
Xg.38675782C>TCA515685304TSPAN7c.519C>T (p.Ser173=)
c.570C>T (p.Ser190=)
n.463C>T
c.609C>T (p.Ser203=)
c.*545C>T (n.*545C>T)
c.*512C>T (n.*512C>T)
n.702C>T
Xg.38675783T>ACA412982218TSPAN7c.520T>A (p.Cys174Ser)
c.571T>A (p.Cys191Ser)
n.464T>A
c.610T>A (p.Cys204Ser)
c.*546T>A (n.*546T>A)
c.*513T>A (n.*513T>A)
n.703T>A
Xg.38675783T>CCA412982219TSPAN7c.520T>C (p.Cys174Arg)
c.571T>C (p.Cys191Arg)
n.464T>C
c.610T>C (p.Cys204Arg)
c.*546T>C (n.*546T>C)
c.*513T>C (n.*513T>C)
n.703T>C
Xg.38675783T>GCA412982220TSPAN7c.520T>G (p.Cys174Gly)
c.571T>G (p.Cys191Gly)
n.464T>G
c.610T>G (p.Cys204Gly)
c.*546T>G (n.*546T>G)
c.*513T>G (n.*513T>G)
n.703T>G
Xg.38675784G>ACA412982221TSPAN7c.521G>A (p.Cys174Tyr)
c.572G>A (p.Cys191Tyr)
n.465G>A
c.611G>A (p.Cys204Tyr)
c.*547G>A (n.*547G>A)
c.*514G>A (n.*514G>A)
n.704G>A
Xg.38675784G>CCA412982222TSPAN7c.521G>C (p.Cys174Ser)
c.572G>C (p.Cys191Ser)
n.465G>C
c.611G>C (p.Cys204Ser)
c.*547G>C (n.*547G>C)
c.*514G>C (n.*514G>C)
n.704G>C
Xg.38675784G>TCA412982223TSPAN7c.521G>T (p.Cys174Phe)
c.572G>T (p.Cys191Phe)
n.465G>T
c.611G>T (p.Cys204Phe)
c.*547G>T (n.*547G>T)
c.*514G>T (n.*514G>T)
n.704G>T
Xg.38675785C>ACA412982224TSPAN7c.522C>A (p.Cys174Ter)
c.573C>A (p.Cys191Ter)
n.466C>A
c.612C>A (p.Cys204Ter)
c.*548C>A (n.*548C>A)
c.*515C>A (n.*515C>A)
n.705C>A
Xg.38675785C>GCA412982225TSPAN7c.522C>G (p.Cys174Trp)
c.573C>G (p.Cys191Trp)
n.466C>G
c.612C>G (p.Cys204Trp)
c.*548C>G (n.*548C>G)
c.*515C>G (n.*515C>G)
n.705C>G
Xg.38675785C>TCA515685316TSPAN7c.522C>T (p.Cys174=)
c.573C>T (p.Cys191=)
n.466C>T
c.612C>T (p.Cys204=)
c.*548C>T (n.*548C>T)
c.*515C>T (n.*515C>T)
n.705C>T
gnomAD v3 gnomAD v4
Xg.38675786T>ACA412982228TSPAN7c.523T>A (p.Cys175Ser)
c.574T>A (p.Cys192Ser)
n.467T>A
c.613T>A (p.Cys205Ser)
c.*549T>A (n.*549T>A)
c.*516T>A (n.*516T>A)
n.706T>A
Xg.38675786T>CCA412982227TSPAN7c.523T>C (p.Cys175Arg)
c.574T>C (p.Cys192Arg)
n.467T>C
c.613T>C (p.Cys205Arg)
c.*549T>C (n.*549T>C)
c.*516T>C (n.*516T>C)
n.706T>C
Xg.38675786T>GCA412982226TSPAN7c.523T>G (p.Cys175Gly)
c.574T>G (p.Cys192Gly)
n.467T>G
c.613T>G (p.Cys205Gly)
c.*549T>G (n.*549T>G)
c.*516T>G (n.*516T>G)
n.706T>G
Xg.38675787G>ACA412982229TSPAN7c.524G>A (p.Cys175Tyr)
c.575G>A (p.Cys192Tyr)
n.468G>A
c.614G>A (p.Cys205Tyr)
c.*550G>A (n.*550G>A)
c.*517G>A (n.*517G>A)
n.707G>A
dbSNP
Xg.38675787G>CCA412982230TSPAN7c.524G>C (p.Cys175Ser)
c.575G>C (p.Cys192Ser)
n.468G>C
c.614G>C (p.Cys205Ser)
c.*550G>C (n.*550G>C)
c.*517G>C (n.*517G>C)
n.707G>C
Xg.38675787G>TCA412982231TSPAN7c.524G>T (p.Cys175Phe)
c.575G>T (p.Cys192Phe)
n.468G>T
c.614G>T (p.Cys205Phe)
c.*550G>T (n.*550G>T)
c.*517G>T (n.*517G>T)
n.707G>T
Xg.38675787_38675788delCA1132427435TSPAN7c.524_525del (p.Cys175TyrfsTer5)
c.575_576del (p.Cys192TyrfsTer5)
n.468_469del
c.614_615del (p.Cys205TyrfsTer5)
c.*550_*551del (n.*550_*551del)
c.*517_*518del (n.*517_*518del)
n.707_708del
gnomAD v3 gnomAD v4
Xg.38675788C>ACA412982232TSPAN7c.525C>A (p.Cys175Ter)
c.576C>A (p.Cys192Ter)
n.469C>A
c.615C>A (p.Cys205Ter)
c.*551C>A (n.*551C>A)
c.*518C>A (n.*518C>A)
n.708C>A
Xg.38675788C>GCA412982233TSPAN7c.525C>G (p.Cys175Trp)
c.576C>G (p.Cys192Trp)
n.469C>G
c.615C>G (p.Cys205Trp)
c.*551C>G (n.*551C>G)
c.*518C>G (n.*518C>G)
n.708C>G
Xg.38675788C>TCA515685326TSPAN7c.525C>T (p.Cys175=)
c.576C>T (p.Cys192=)
n.469C>T
c.615C>T (p.Cys205=)
c.*551C>T (n.*551C>T)
c.*518C>T (n.*518C>T)
n.708C>T
Xg.38675788_38675789insTTTTTTTTTACA1132427439TSPAN7c.525_526insTTTTTTTTTA (p.Met176PhefsTer8)
c.576_577insTTTTTTTTTA (p.Met193PhefsTer8)
n.469_470insTTTTTTTTTA
c.615_616insTTTTTTTTTA (p.Met206PhefsTer8)
c.*551_*552insTTTTTTTTTA (n.*551_*552insTTTTTTTTTA)
c.*518_*519insTTTTTTTTTA (n.*518_*519insTTTTTTTTTA)
n.708_709insTTTTTTTTTA
gnomAD v3 gnomAD v4
Xg.38675789A=CA2424970049TSPAN7c.526A= (p.Met176=)
c.577A= (p.Met193=)
n.470A=
c.616A= (p.Met206=)
c.*552A= (n.*552A=)
c.*519A= (n.*519A=)
n.709A=
Xg.38675789A>CCA412982234TSPAN7c.526A>C (p.Met176Leu)
c.577A>C (p.Met193Leu)
n.470A>C
c.616A>C (p.Met206Leu)
c.*552A>C (n.*552A>C)
c.*519A>C (n.*519A>C)
n.709A>C
Xg.38675789A>GCA412982235TSPAN7c.526A>G (p.Met176Val)
c.577A>G (p.Met193Val)
n.470A>G
c.616A>G (p.Met206Val)
c.*552A>G (n.*552A>G)
c.*519A>G (n.*519A>G)
n.709A>G
dbSNP gnomAD v4
Xg.38675789A>TCA412982236TSPAN7c.526A>T (p.Met176Leu)
c.577A>T (p.Met193Leu)
n.470A>T
c.616A>T (p.Met206Leu)
c.*552A>T (n.*552A>T)
c.*519A>T (n.*519A>T)
n.709A>T
Xg.38675790T>ACA412982237TSPAN7c.527T>A (p.Met176Lys)
c.578T>A (p.Met193Lys)
n.471T>A
c.617T>A (p.Met206Lys)
c.*553T>A (n.*553T>A)
c.*520T>A (n.*520T>A)
n.710T>A
Xg.38675790T>CCA412982238TSPAN7c.527T>C (p.Met176Thr)
c.578T>C (p.Met193Thr)
n.471T>C
c.617T>C (p.Met206Thr)
c.*553T>C (n.*553T>C)
c.*520T>C (n.*520T>C)
n.710T>C
Xg.38675790T>GCA412982239TSPAN7c.527T>G (p.Met176Arg)
c.578T>G (p.Met193Arg)
n.471T>G
c.617T>G (p.Met206Arg)
c.*553T>G (n.*553T>G)
c.*520T>G (n.*520T>G)
n.710T>G
Xg.38675790_38675791insTTTTCA1132427442TSPAN7c.527_528insTTTT (p.Met176IlefsTer6)
c.578_579insTTTT (p.Met193IlefsTer6)
n.471_472insTTTT
c.617_618insTTTT (p.Met206IlefsTer6)
c.*553_*554insTTTT (n.*553_*554insTTTT)
c.*520_*521insTTTT (n.*520_*521insTTTT)
n.710_711insTTTT
gnomAD v3 gnomAD v4
Xg.38675791_38675792insTTTGCA2571143091TSPAN7c.528_529insTTTG (p.Asn177PhefsTer5)
c.579_580insTTTG (p.Asn194PhefsTer5)
n.472_473insTTTG
c.618_619insTTTG (p.Asn207PhefsTer5)
c.*554_*555insTTTG (n.*554_*555insTTTG)
c.*521_*522insTTTG (n.*521_*522insTTTG)
n.711_712insTTTG
Xg.38675790_38675799delinsTGAACGAAACCA2424970050TSPAN7c.527_536delinsTGAACGAAAC (p.Met176=)
c.578_587delinsTGAACGAAAC (p.Met193=)
n.471_480delinsTGAACGAAAC
c.617_626delinsTGAACGAAAC (p.Met206=)
c.*553_*562delinsTGAACGAAAC (n.*553_*562delinsTGAACGAAAC)
c.*520_*529delinsTGAACGAAAC (n.*520_*529delinsTGAACGAAAC)
n.710_719delinsTGAACGAAAC
Xg.38675791G>ACA412982242TSPAN7c.528G>A (p.Met176Ile)
c.579G>A (p.Met193Ile)
n.472G>A
c.618G>A (p.Met206Ile)
c.*554G>A (n.*554G>A)
c.*521G>A (n.*521G>A)
n.711G>A
Xg.38675791G>CCA412982241TSPAN7c.528G>C (p.Met176Ile)
c.579G>C (p.Met193Ile)
n.472G>C
c.618G>C (p.Met206Ile)
c.*554G>C (n.*554G>C)
c.*521G>C (n.*521G>C)
n.711G>C
Xg.38675791G>TCA412982240TSPAN7c.528G>T (p.Met176Ile)
c.579G>T (p.Met193Ile)
n.472G>T
c.618G>T (p.Met206Ile)
c.*554G>T (n.*554G>T)
c.*521G>T (n.*521G>T)
n.711G>T
gnomAD v3 gnomAD v4
Xg.38675791_38675799delCA640919570TSPAN7c.528_536del (p.Met176_Thr179delinsIle)
c.579_587del (p.Met193_Thr196delinsIle)
n.472_480del
c.618_626del (p.Met206_Thr209delinsIle)
c.*554_*562del (n.*554_*562del)
c.*521_*529del (n.*521_*529del)
n.711_719del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675792A>CCA412982243TSPAN7c.529A>C (p.Asn177His)
c.580A>C (p.Asn194His)
n.473A>C
c.619A>C (p.Asn207His)
c.*555A>C (n.*555A>C)
c.*522A>C (n.*522A>C)
n.712A>C
Xg.38675792A>GCA412982244TSPAN7c.529A>G (p.Asn177Asp)
c.580A>G (p.Asn194Asp)
n.473A>G
c.619A>G (p.Asn207Asp)
c.*555A>G (n.*555A>G)
c.*522A>G (n.*522A>G)
n.712A>G
Xg.38675792A>TCA412982245TSPAN7c.529A>T (p.Asn177Tyr)
c.580A>T (p.Asn194Tyr)
n.473A>T
c.619A>T (p.Asn207Tyr)
c.*555A>T (n.*555A>T)
c.*522A>T (n.*522A>T)
n.712A>T
Xg.38675792_38675793insTCA1132427447TSPAN7c.529_530insT (p.Asn177IlefsTer4)
c.580_581insT (p.Asn194IlefsTer4)
n.473_474insT
c.619_620insT (p.Asn207IlefsTer4)
c.*555_*556insT (n.*555_*556insT)
c.*522_*523insT (n.*522_*523insT)
n.712_713insT
gnomAD v3 gnomAD v4
Xg.38675793A>CCA412982246TSPAN7c.530A>C (p.Asn177Thr)
c.581A>C (p.Asn194Thr)
n.474A>C
c.620A>C (p.Asn207Thr)
c.*556A>C (n.*556A>C)
c.*523A>C (n.*523A>C)
n.713A>C
Xg.38675793A>GCA412982247TSPAN7c.530A>G (p.Asn177Ser)
c.581A>G (p.Asn194Ser)
n.474A>G
c.620A>G (p.Asn207Ser)
c.*556A>G (n.*556A>G)
c.*523A>G (n.*523A>G)
n.713A>G
Xg.38675793A>TCA412982248TSPAN7c.530A>T (p.Asn177Ile)
c.581A>T (p.Asn194Ile)
n.474A>T
c.620A>T (p.Asn207Ile)
c.*556A>T (n.*556A>T)
c.*523A>T (n.*523A>T)
n.713A>T
gnomAD v3 gnomAD v4
Xg.38675794C>ACA412982249TSPAN7c.531C>A (p.Asn177Lys)
c.582C>A (p.Asn194Lys)
n.475C>A
c.621C>A (p.Asn207Lys)
c.*557C>A (n.*557C>A)
c.*524C>A (n.*524C>A)
n.714C>A
Xg.38675794C=CA2424970051TSPAN7c.531C= (p.Asn177=)
c.582C= (p.Asn194=)
n.475C=
c.621C= (p.Asn207=)
c.*557C= (n.*557C=)
c.*524C= (n.*524C=)
n.714C=
Xg.38675794C>GCA412982250TSPAN7c.531C>G (p.Asn177Lys)
c.582C>G (p.Asn194Lys)
n.475C>G
c.621C>G (p.Asn207Lys)
c.*557C>G (n.*557C>G)
c.*524C>G (n.*524C>G)
n.714C>G
gnomAD v4
Xg.38675794C>TCA10386123TSPAN7c.531C>T (p.Asn177=)
c.582C>T (p.Asn194=)
n.475C>T
c.621C>T (p.Asn207=)
c.*557C>T (n.*557C>T)
c.*524C>T (n.*524C>T)
n.714C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.38675795G>ACA328161081TSPAN7c.532G>A (p.Glu178Lys)
c.583G>A (p.Glu195Lys)
n.476G>A
c.622G>A (p.Glu208Lys)
c.*558G>A (n.*558G>A)
c.*525G>A (n.*525G>A)
n.715G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675795G>CCA412982251TSPAN7c.532G>C (p.Glu178Gln)
c.583G>C (p.Glu195Gln)
n.476G>C
c.622G>C (p.Glu208Gln)
c.*558G>C (n.*558G>C)
c.*525G>C (n.*525G>C)
n.715G>C
gnomAD v3 gnomAD v4
Xg.38675795G=CA2424970052TSPAN7c.532G= (p.Glu178=)
c.583G= (p.Glu195=)
n.476G=
c.622G= (p.Glu208=)
c.*558G= (n.*558G=)
c.*525G= (n.*525G=)
n.715G=
Xg.38675795G>TCA412982252TSPAN7c.532G>T (p.Glu178Ter)
c.583G>T (p.Glu195Ter)
n.476G>T
c.622G>T (p.Glu208Ter)
c.*558G>T (n.*558G>T)
c.*525G>T (n.*525G>T)
n.715G>T
Xg.38675796A>CCA412982255TSPAN7c.533A>C (p.Glu178Ala)
c.584A>C (p.Glu195Ala)
n.477A>C
c.623A>C (p.Glu208Ala)
c.*559A>C (n.*559A>C)
c.*526A>C (n.*526A>C)
n.716A>C
Xg.38675796A>GCA412982253TSPAN7c.533A>G (p.Glu178Gly)
c.584A>G (p.Glu195Gly)
n.477A>G
c.623A>G (p.Glu208Gly)
c.*559A>G (n.*559A>G)
c.*526A>G (n.*526A>G)
n.716A>G
Xg.38675796A>TCA412982254TSPAN7c.533A>T (p.Glu178Val)
c.584A>T (p.Glu195Val)
n.477A>T
c.623A>T (p.Glu208Val)
c.*559A>T (n.*559A>T)
c.*526A>T (n.*526A>T)
n.716A>T
Xg.38675797_38675798delCA1132427457TSPAN7c.534_535del (p.Glu178AspfsTer2)
c.585_586del (p.Glu195AspfsTer2)
n.478_479del
c.624_625del (p.Glu208AspfsTer2)
c.*560_*561del (n.*560_*561del)
c.*527_*528del (n.*527_*528del)
n.717_718del
gnomAD v3 gnomAD v4
Xg.38675797A>CCA412982256TSPAN7c.534A>C (p.Glu178Asp)
c.585A>C (p.Glu195Asp)
n.478A>C
c.624A>C (p.Glu208Asp)
c.*560A>C (n.*560A>C)
c.*527A>C (n.*527A>C)
n.717A>C
Xg.38675797A>GCA515685355TSPAN7c.534A>G (p.Glu178=)
c.585A>G (p.Glu195=)
n.478A>G
c.624A>G (p.Glu208=)
c.*560A>G (n.*560A>G)
c.*527A>G (n.*527A>G)
n.717A>G
Xg.38675797A>TCA412982257TSPAN7c.534A>T (p.Glu178Asp)
c.585A>T (p.Glu195Asp)
n.478A>T
c.624A>T (p.Glu208Asp)
c.*560A>T (n.*560A>T)
c.*527A>T (n.*527A>T)
n.717A>T
gnomAD v3 gnomAD v4
Xg.38675798A>CCA412982258TSPAN7c.535A>C (p.Thr179Pro)
c.586A>C (p.Thr196Pro)
n.479A>C
c.625A>C (p.Thr209Pro)
c.*561A>C (n.*561A>C)
c.*528A>C (n.*528A>C)
n.718A>C
Xg.38675798A>GCA412982259TSPAN7c.535A>G (p.Thr179Ala)
c.586A>G (p.Thr196Ala)
n.479A>G
c.625A>G (p.Thr209Ala)
c.*561A>G (n.*561A>G)
c.*528A>G (n.*528A>G)
n.718A>G
gnomAD v3 gnomAD v4
Xg.38675798A>TCA412982260TSPAN7c.535A>T (p.Thr179Ser)
c.586A>T (p.Thr196Ser)
n.479A>T
c.625A>T (p.Thr209Ser)
c.*561A>T (n.*561A>T)
c.*528A>T (n.*528A>T)
n.718A>T
gnomAD v3 gnomAD v4
Xg.38675799C>ACA412982261TSPAN7c.536C>A (p.Thr179Asn)
c.587C>A (p.Thr196Asn)
n.480C>A
c.626C>A (p.Thr209Asn)
c.*562C>A (n.*562C>A)
c.*529C>A (n.*529C>A)
n.719C>A
Xg.38675799C=CA2424970053TSPAN7c.536C= (p.Thr179=)
c.587C= (p.Thr196=)
n.480C=
c.626C= (p.Thr209=)
c.*562C= (n.*562C=)
c.*529C= (n.*529C=)
n.719C=
Xg.38675799C>GCA412982262TSPAN7c.536C>G (p.Thr179Ser)
c.587C>G (p.Thr196Ser)
n.480C>G
c.626C>G (p.Thr209Ser)
c.*562C>G (n.*562C>G)
c.*529C>G (n.*529C>G)
n.719C>G
Xg.38675799C>TCA412982263TSPAN7c.536C>T (p.Thr179Ile)
c.587C>T (p.Thr196Ile)
n.480C>T
c.626C>T (p.Thr209Ile)
c.*562C>T (n.*562C>T)
c.*529C>T (n.*529C>T)
n.719C>T
dbSNP gnomAD v3 gnomAD v4
Xg.38675800delCA1132427466TSPAN7c.537del (p.Asp180IlefsTer10)
c.588del (p.Asp197IlefsTer10)
n.481del
c.627del (p.Asp210IlefsTer10)
c.*563del (n.*563del)
c.*530del (n.*530del)
n.720del
gnomAD v3 gnomAD v4
Xg.38675800T>ACA515685366TSPAN7c.537T>A (p.Thr179=)
c.588T>A (p.Thr196=)
n.481T>A
c.627T>A (p.Thr209=)
c.*563T>A (n.*563T>A)
c.*530T>A (n.*530T>A)
n.720T>A
Xg.38675800T>CCA515685367TSPAN7c.537T>C (p.Thr179=)
c.588T>C (p.Thr196=)
n.481T>C
c.627T>C (p.Thr209=)
c.*563T>C (n.*563T>C)
c.*530T>C (n.*530T>C)
n.720T>C
Xg.38675800T>GCA515685369TSPAN7c.537T>G (p.Thr179=)
c.588T>G (p.Thr196=)
n.481T>G
c.627T>G (p.Thr209=)
c.*563T>G (n.*563T>G)
c.*530T>G (n.*530T>G)
n.720T>G
gnomAD v3 gnomAD v4
Xg.38675800_38675802delinsTGACA2424970054TSPAN7c.537_539delinsTGA (p.Thr179=)
c.588_590delinsTGA (p.Thr196=)
n.481_483delinsTGA
c.627_629delinsTGA (p.Thr209=)
c.*563_*565delinsTGA (n.*563_*565delinsTGA)
c.*530_*532delinsTGA (n.*530_*532delinsTGA)
n.720_722delinsTGA
Xg.38675801G>ACA412982264TSPAN7c.538G>A (p.Asp180Asn)
c.589G>A (p.Asp197Asn)
n.482G>A
c.628G>A (p.Asp210Asn)
c.*564G>A (n.*564G>A)
c.*531G>A (n.*531G>A)
n.721G>A
Xg.38675801G>CCA412982265TSPAN7c.538G>C (p.Asp180His)
c.589G>C (p.Asp197His)
n.482G>C
c.628G>C (p.Asp210His)
c.*564G>C (n.*564G>C)
c.*531G>C (n.*531G>C)
n.721G>C
Xg.38675801G>TCA412982266TSPAN7c.538G>T (p.Asp180Tyr)
c.589G>T (p.Asp197Tyr)
n.482G>T
c.628G>T (p.Asp210Tyr)
c.*564G>T (n.*564G>T)
c.*531G>T (n.*531G>T)
n.721G>T
Xg.38675801_38675802delCA640919577TSPAN7c.538_539del (p.Asp180LeufsTer2)
c.589_590del (p.Asp197LeufsTer2)
n.482_483del
c.628_629del (p.Asp210LeufsTer2)
c.*564_*565del (n.*564_*565del)
c.*531_*532del (n.*531_*532del)
n.721_722del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675802A>CCA412982268TSPAN7c.539A>C (p.Asp180Ala)
c.590A>C (p.Asp197Ala)
n.483A>C
c.629A>C (p.Asp210Ala)
c.*565A>C (n.*565A>C)
c.*532A>C (n.*532A>C)
n.722A>C
Xg.38675802A>GCA412982269TSPAN7c.539A>G (p.Asp180Gly)
c.590A>G (p.Asp197Gly)
n.483A>G
c.629A>G (p.Asp210Gly)
c.*565A>G (n.*565A>G)
c.*532A>G (n.*532A>G)
n.722A>G
Xg.38675802A>TCA412982267TSPAN7c.539A>T (p.Asp180Val)
c.590A>T (p.Asp197Val)
n.483A>T
c.629A>T (p.Asp210Val)
c.*565A>T (n.*565A>T)
c.*532A>T (n.*532A>T)
n.722A>T
Xg.38675802_38675804delCA1132427475TSPAN7c.539_541del (p.Asp180_Cys181delinsGly)
c.590_592del (p.Asp197_Cys198delinsGly)
n.483_485del
c.629_631del (p.Asp210_Cys211delinsGly)
c.*565_*567del (n.*565_*567del)
c.*532_*534del (n.*532_*534del)
n.722_724del
gnomAD v3 gnomAD v4
Xg.38675802_38675810delCA1132427478TSPAN7c.539_547del (p.Asp180_Pro183delinsAla)
c.590_598del (p.Asp197_Pro200delinsAla)
n.483_491del
c.629_637del (p.Asp210_Pro213delinsAla)
c.*565_*573del (n.*565_*573del)
c.*532_*540del (n.*532_*540del)
n.722_730del
gnomAD v3 gnomAD v4
Xg.38675803T>ACA412982271TSPAN7c.540T>A (p.Asp180Glu)
c.591T>A (p.Asp197Glu)
n.484T>A
c.630T>A (p.Asp210Glu)
c.*566T>A (n.*566T>A)
c.*533T>A (n.*533T>A)
n.723T>A
Xg.38675803T>CCA10386124TSPAN7c.540T>C (p.Asp180=)
c.591T>C (p.Asp197=)
n.484T>C
c.630T>C (p.Asp210=)
c.*566T>C (n.*566T>C)
c.*533T>C (n.*533T>C)
n.723T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675803T>GCA412982270TSPAN7c.540T>G (p.Asp180Glu)
c.591T>G (p.Asp197Glu)
n.484T>G
c.630T>G (p.Asp210Glu)
c.*566T>G (n.*566T>G)
c.*533T>G (n.*533T>G)
n.723T>G
Xg.38675803T=CA2424970055TSPAN7c.540T= (p.Asp180=)
c.591T= (p.Asp197=)
n.484T=
c.630T= (p.Asp210=)
c.*566T= (n.*566T=)
c.*533T= (n.*533T=)
n.723T=
Xg.38675803_38675811delCA1132427484TSPAN7c.540_548del (p.Cys181_Pro183del)
c.591_599del (p.Cys198_Pro200del)
n.484_492del
c.630_638del (p.Cys211_Pro213del)
c.*566_*574del (n.*566_*574del)
c.*533_*541del (n.*533_*541del)
n.723_731del
gnomAD v3 gnomAD v4
Xg.38675804T>ACA412982272TSPAN7c.541T>A (p.Cys181Ser)
c.592T>A (p.Cys198Ser)
n.485T>A
c.631T>A (p.Cys211Ser)
c.*567T>A (n.*567T>A)
c.*534T>A (n.*534T>A)
n.724T>A
gnomAD v4
Xg.38675804T>CCA412982273TSPAN7c.541T>C (p.Cys181Arg)
c.592T>C (p.Cys198Arg)
n.485T>C
c.631T>C (p.Cys211Arg)
c.*567T>C (n.*567T>C)
c.*534T>C (n.*534T>C)
n.724T>C
Xg.38675804T>GCA412982274TSPAN7c.541T>G (p.Cys181Gly)
c.592T>G (p.Cys198Gly)
n.485T>G
c.631T>G (p.Cys211Gly)
c.*567T>G (n.*567T>G)
c.*534T>G (n.*534T>G)
n.724T>G
dbSNP gnomAD v4
Xg.38675804T=CA2424970056TSPAN7c.541T= (p.Cys181=)
c.592T= (p.Cys198=)
n.485T=
c.631T= (p.Cys211=)
c.*567T= (n.*567T=)
c.*534T= (n.*534T=)
n.724T=
Xg.38675805G>ACA412982275TSPAN7c.542G>A (p.Cys181Tyr)
c.593G>A (p.Cys198Tyr)
n.486G>A
c.632G>A (p.Cys211Tyr)
c.*568G>A (n.*568G>A)
c.*535G>A (n.*535G>A)
n.725G>A
Xg.38675805G>CCA412982276TSPAN7c.542G>C (p.Cys181Ser)
c.593G>C (p.Cys198Ser)
n.486G>C
c.632G>C (p.Cys211Ser)
c.*568G>C (n.*568G>C)
c.*535G>C (n.*535G>C)
n.725G>C
gnomAD v3 gnomAD v4
Xg.38675805G=CA2424970057TSPAN7c.542G= (p.Cys181=)
c.593G= (p.Cys198=)
n.486G=
c.632G= (p.Cys211=)
c.*568G= (n.*568G=)
c.*535G= (n.*535G=)
n.725G=
Xg.38675805G>TCA412982277TSPAN7c.542G>T (p.Cys181Phe)
c.593G>T (p.Cys198Phe)
n.486G>T
c.632G>T (p.Cys211Phe)
c.*568G>T (n.*568G>T)
c.*535G>T (n.*535G>T)
n.725G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675806T>ACA412982278TSPAN7c.543T>A (p.Cys181Ter)
c.594T>A (p.Cys198Ter)
n.487T>A
c.633T>A (p.Cys211Ter)
c.*569T>A (n.*569T>A)
c.*536T>A (n.*536T>A)
n.726T>A
Xg.38675806T>CCA515685390TSPAN7c.543T>C (p.Cys181=)
c.594T>C (p.Cys198=)
n.487T>C
c.633T>C (p.Cys211=)
c.*569T>C (n.*569T>C)
c.*536T>C (n.*536T>C)
n.726T>C
gnomAD v3 gnomAD v4
Xg.38675806T>GCA412982279TSPAN7c.543T>G (p.Cys181Trp)
c.594T>G (p.Cys198Trp)
n.487T>G
c.633T>G (p.Cys211Trp)
c.*569T>G (n.*569T>G)
c.*536T>G (n.*536T>G)
n.726T>G
Xg.38675807A=CA2424970058TSPAN7c.544A= (p.Asn182=)
c.595A= (p.Asn199=)
n.488A=
c.634A= (p.Asn212=)
c.*570A= (n.*570A=)
c.*537A= (n.*537A=)
n.727A=
Xg.38675807A>CCA412982280TSPAN7c.544A>C (p.Asn182His)
c.595A>C (p.Asn199His)
n.488A>C
c.634A>C (p.Asn212His)
c.*570A>C (n.*570A>C)
c.*537A>C (n.*537A>C)
n.727A>C
Xg.38675807A>GCA412982281TSPAN7c.544A>G (p.Asn182Asp)
c.595A>G (p.Asn199Asp)
n.488A>G
c.634A>G (p.Asn212Asp)
c.*570A>G (n.*570A>G)
c.*537A>G (n.*537A>G)
n.727A>G
dbSNP
Xg.38675807A>TCA412982282TSPAN7c.544A>T (p.Asn182Tyr)
c.595A>T (p.Asn199Tyr)
n.488A>T
c.634A>T (p.Asn212Tyr)
c.*570A>T (n.*570A>T)
c.*537A>T (n.*537A>T)
n.727A>T
dbSNP
Xg.38675808A=CA2424970059TSPAN7c.545A= (p.Asn182=)
c.596A= (p.Asn199=)
n.489A=
c.635A= (p.Asn212=)
c.*571A= (n.*571A=)
c.*538A= (n.*538A=)
n.728A=
Xg.38675808A>CCA412982285TSPAN7c.545A>C (p.Asn182Thr)
c.596A>C (p.Asn199Thr)
n.489A>C
c.635A>C (p.Asn212Thr)
c.*571A>C (n.*571A>C)
c.*538A>C (n.*538A>C)
n.728A>C
Xg.38675808A>GCA412982283TSPAN7c.545A>G (p.Asn182Ser)
c.596A>G (p.Asn199Ser)
n.489A>G
c.635A>G (p.Asn212Ser)
c.*571A>G (n.*571A>G)
c.*538A>G (n.*538A>G)
n.728A>G
dbSNP
Xg.38675808A>TCA412982284TSPAN7c.545A>T (p.Asn182Ile)
c.596A>T (p.Asn199Ile)
n.489A>T
c.635A>T (p.Asn212Ile)
c.*571A>T (n.*571A>T)
c.*538A>T (n.*538A>T)
n.728A>T
Xg.38675809T>ACA412982286TSPAN7c.546T>A (p.Asn182Lys)
c.597T>A (p.Asn199Lys)
n.490T>A
c.636T>A (p.Asn212Lys)
c.*572T>A (n.*572T>A)
c.*539T>A (n.*539T>A)
n.729T>A
Xg.38675809T>CCA515685402TSPAN7c.546T>C (p.Asn182=)
c.597T>C (p.Asn199=)
n.490T>C
c.636T>C (p.Asn212=)
c.*572T>C (n.*572T>C)
c.*539T>C (n.*539T>C)
n.729T>C
gnomAD v3 gnomAD v4
Xg.38675809T>GCA412982287TSPAN7c.546T>G (p.Asn182Lys)
c.597T>G (p.Asn199Lys)
n.490T>G
c.636T>G (p.Asn212Lys)
c.*572T>G (n.*572T>G)
c.*539T>G (n.*539T>G)
n.729T>G
Xg.38675809T=CA2424970060TSPAN7c.546T= (p.Asn182=)
c.597T= (p.Asn199=)
n.490T=
c.636T= (p.Asn212=)
c.*572T= (n.*572T=)
c.*539T= (n.*539T=)
n.729T=
Xg.38675809_38675810insGAGACGGCGACA2515264133TSPAN7c.546_547insGAGACGGCGA (p.Pro183GlufsTer18)
c.597_598insGAGACGGCGA (p.Pro200GlufsTer18)
n.490_491insGAGACGGCGA
c.636_637insGAGACGGCGA (p.Pro213GlufsTer18)
c.*572_*573insGAGACGGCGA (n.*572_*573insGAGACGGCGA)
c.*539_*540insGAGACGGCGA (n.*539_*540insGAGACGGCGA)
n.729_730insGAGACGGCGA
Xg.38675809_38675810insGATACGGCGACA640919586TSPAN7c.546_547insGATACGGCGA (p.Pro183AspfsTer18)
c.597_598insGATACGGCGA (p.Pro200AspfsTer18)
n.490_491insGATACGGCGA
c.636_637insGATACGGCGA (p.Pro213AspfsTer18)
c.*572_*573insGATACGGCGA (n.*572_*573insGATACGGCGA)
c.*539_*540insGATACGGCGA (n.*539_*540insGATACGGCGA)
n.729_730insGATACGGCGA
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675809_38675810insGTTACGGCGACA1132427495TSPAN7c.546_547insGTTACGGCGA (p.Pro183ValfsTer18)
c.597_598insGTTACGGCGA (p.Pro200ValfsTer18)
n.490_491insGTTACGGCGA
c.636_637insGTTACGGCGA (p.Pro213ValfsTer18)
c.*572_*573insGTTACGGCGA (n.*572_*573insGTTACGGCGA)
c.*539_*540insGTTACGGCGA (n.*539_*540insGTTACGGCGA)
n.729_730insGTTACGGCGA
gnomAD v3 gnomAD v4
Xg.38675810C>ACA412982288TSPAN7c.547C>A (p.Pro183Thr)
c.598C>A (p.Pro200Thr)
n.491C>A
c.637C>A (p.Pro213Thr)
c.*573C>A (n.*573C>A)
c.*540C>A (n.*540C>A)
n.730C>A
Xg.38675810C>GCA412982289TSPAN7c.547C>G (p.Pro183Ala)
c.598C>G (p.Pro200Ala)
n.491C>G
c.637C>G (p.Pro213Ala)
c.*573C>G (n.*573C>G)
c.*540C>G (n.*540C>G)
n.730C>G
Xg.38675810C>TCA412982290TSPAN7c.547C>T (p.Pro183Ser)
c.598C>T (p.Pro200Ser)
n.491C>T
c.637C>T (p.Pro213Ser)
c.*573C>T (n.*573C>T)
c.*540C>T (n.*540C>T)
n.730C>T
Xg.38675810_38675811insTTACA2540522316TSPAN7c.547_548insTTA (p.Pro183delinsLeuThr)
c.598_599insTTA (p.Pro200delinsLeuThr)
n.491_492insTTA
c.637_638insTTA (p.Pro213delinsLeuThr)
c.*573_*574insTTA (n.*573_*574insTTA)
c.*540_*541insTTA (n.*540_*541insTTA)
n.730_731insTTA
Xg.38675811C>ACA412982291TSPAN7c.548C>A (p.Pro183His)
c.599C>A (p.Pro200His)
n.492C>A
c.638C>A (p.Pro213His)
c.*574C>A (n.*574C>A)
c.*541C>A (n.*541C>A)
n.731C>A
dbSNP gnomAD v3 gnomAD v4
Xg.38675811C=CA2424970061TSPAN7c.548C= (p.Pro183=)
c.599C= (p.Pro200=)
n.492C=
c.638C= (p.Pro213=)
c.*574C= (n.*574C=)
c.*541C= (n.*541C=)
n.731C=
Xg.38675811C>GCA412982292TSPAN7c.548C>G (p.Pro183Arg)
c.599C>G (p.Pro200Arg)
n.492C>G
c.638C>G (p.Pro213Arg)
c.*574C>G (n.*574C>G)
c.*541C>G (n.*541C>G)
n.731C>G
Xg.38675811C>TCA10386125TSPAN7c.548C>T (p.Pro183Leu)
c.599C>T (p.Pro200Leu)
n.492C>T
c.638C>T (p.Pro213Leu)
c.*574C>T (n.*574C>T)
c.*541C>T (n.*541C>T)
n.731C>T
dbSNP ExAC gnomAD v2
Xg.38675811_38675812insACA640919589TSPAN7c.548_549insA (p.Gln184ProfsTer14)
c.599_600insA (p.Gln201ProfsTer14)
n.492_493insA
c.638_639insA (p.Gln214ProfsTer14)
c.*574_*575insA (n.*574_*575insA)
c.*541_*542insA (n.*541_*542insA)
n.731_732insA
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675811_38675812insGACA1132427503TSPAN7c.548_549insGA (p.Gln184ThrfsTer7)
c.599_600insGA (p.Gln201ThrfsTer7)
n.492_493insGA
c.638_639insGA (p.Gln214ThrfsTer7)
c.*574_*575insGA (n.*574_*575insGA)
c.*541_*542insGA (n.*541_*542insGA)
n.731_732insGA
gnomAD v3 gnomAD v4
Xg.38675812C>ACA515685416TSPAN7c.549C>A (p.Pro183=)
c.600C>A (p.Pro200=)
n.493C>A
c.639C>A (p.Pro213=)
c.*575C>A (n.*575C>A)
c.*542C>A (n.*542C>A)
n.732C>A
Xg.38675812C>GCA515685414TSPAN7c.549C>G (p.Pro183=)
c.600C>G (p.Pro200=)
n.493C>G
c.639C>G (p.Pro213=)
c.*575C>G (n.*575C>G)
c.*542C>G (n.*542C>G)
n.732C>G
Xg.38675812C>TCA515685412TSPAN7c.549C>T (p.Pro183=)
c.600C>T (p.Pro200=)
n.493C>T
c.639C>T (p.Pro213=)
c.*575C>T (n.*575C>T)
c.*542C>T (n.*542C>T)
n.732C>T
gnomAD v4
Xg.38675813C>ACA412982293TSPAN7c.550C>A (p.Gln184Lys)
c.601C>A (p.Gln201Lys)
n.494C>A
c.640C>A (p.Gln214Lys)
c.*576C>A (n.*576C>A)
c.*543C>A (n.*543C>A)
n.733C>A
Xg.38675813C>GCA412982294TSPAN7c.550C>G (p.Gln184Glu)
c.601C>G (p.Gln201Glu)
n.494C>G
c.640C>G (p.Gln214Glu)
c.*576C>G (n.*576C>G)
c.*543C>G (n.*543C>G)
n.733C>G
Xg.38675813C>TCA412982295TSPAN7c.550C>T (p.Gln184Ter)
c.601C>T (p.Gln201Ter)
n.494C>T
c.640C>T (p.Gln214Ter)
c.*576C>T (n.*576C>T)
c.*543C>T (n.*543C>T)
n.733C>T
Xg.38675814A=CA2424970062TSPAN7c.551A= (p.Gln184=)
c.602A= (p.Gln201=)
n.495A=
c.641A= (p.Gln214=)
c.*577A= (n.*577A=)
c.*544A= (n.*544A=)
n.734A=
Xg.38675814A>CCA328161086TSPAN7c.551A>C (p.Gln184Pro)
c.602A>C (p.Gln201Pro)
n.495A>C
c.641A>C (p.Gln214Pro)
c.*577A>C (n.*577A>C)
c.*544A>C (n.*544A>C)
n.734A>C
dbSNP gnomAD v3 gnomAD v4
Xg.38675814A>GCA412982297TSPAN7c.551A>G (p.Gln184Arg)
c.602A>G (p.Gln201Arg)
n.495A>G
c.641A>G (p.Gln214Arg)
c.*577A>G (n.*577A>G)
c.*544A>G (n.*544A>G)
n.734A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675814A>TCA412982296TSPAN7c.551A>T (p.Gln184Leu)
c.602A>T (p.Gln201Leu)
n.495A>T
c.641A>T (p.Gln214Leu)
c.*577A>T (n.*577A>T)
c.*544A>T (n.*544A>T)
n.734A>T
dbSNP
Xg.38675814_38675815insCCCA1132427510TSPAN7c.551_552insCC (p.Gln184HisfsTer7)
c.602_603insCC (p.Gln201HisfsTer7)
n.495_496insCC
c.641_642insCC (p.Gln214HisfsTer7)
c.*577_*578insCC (n.*577_*578insCC)
c.*544_*545insCC (n.*544_*545insCC)
n.734_735insCC
gnomAD v3 gnomAD v4
Xg.38675815G>ACA515685427TSPAN7c.552G>A (p.Gln184=)
c.603G>A (p.Gln201=)
n.496G>A
c.642G>A (p.Gln214=)
c.*578G>A (n.*578G>A)
c.*545G>A (n.*545G>A)
n.735G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675815G>CCA412982298TSPAN7c.552G>C (p.Gln184His)
c.603G>C (p.Gln201His)
n.496G>C
c.642G>C (p.Gln214His)
c.*578G>C (n.*578G>C)
c.*545G>C (n.*545G>C)
n.735G>C
gnomAD v4
Xg.38675815G=CA2424970063TSPAN7c.552G= (p.Gln184=)
c.603G= (p.Gln201=)
n.496G=
c.642G= (p.Gln214=)
c.*578G= (n.*578G=)
c.*545G= (n.*545G=)
n.735G=
Xg.38675815G>TCA412982299TSPAN7c.552G>T (p.Gln184His)
c.603G>T (p.Gln201His)
n.496G>T
c.642G>T (p.Gln214His)
c.*578G>T (n.*578G>T)
c.*545G>T (n.*545G>T)
n.735G>T
dbSNP gnomAD v4
Xg.38675815_38675816insACA1132427515TSPAN7c.552_553insA (p.Asp185ArgfsTer13)
c.603_604insA (p.Asp202ArgfsTer13)
n.496_497insA
c.642_643insA (p.Asp215ArgfsTer13)
c.*578_*579insA (n.*578_*579insA)
c.*545_*546insA (n.*545_*546insA)
n.735_736insA
gnomAD v3 gnomAD v4
Xg.38675816G>ACA412982300TSPAN7c.553G>A (p.Asp185Asn)
c.604G>A (p.Asp202Asn)
n.497G>A
c.643G>A (p.Asp215Asn)
c.*579G>A (n.*579G>A)
c.*546G>A (n.*546G>A)
n.736G>A
gnomAD v4
Xg.38675816G>CCA412982301TSPAN7c.553G>C (p.Asp185His)
c.604G>C (p.Asp202His)
n.497G>C
c.643G>C (p.Asp215His)
c.*579G>C (n.*579G>C)
c.*546G>C (n.*546G>C)
n.736G>C
Xg.38675816G>TCA412982302TSPAN7c.553G>T (p.Asp185Tyr)
c.604G>T (p.Asp202Tyr)
n.497G>T
c.643G>T (p.Asp215Tyr)
c.*579G>T (n.*579G>T)
c.*546G>T (n.*546G>T)
n.736G>T
gnomAD v4
Xg.38675817A=CA2424970064TSPAN7c.554A= (p.Asp185=)
c.605A= (p.Asp202=)
n.498A=
c.644A= (p.Asp215=)
c.*580A= (n.*580A=)
c.*547A= (n.*547A=)
Xg.38675817A>CCA412982303TSPAN7c.554A>C (p.Asp185Ala)
c.605A>C (p.Asp202Ala)
n.498A>C
c.644A>C (p.Asp215Ala)
c.*580A>C (n.*580A>C)
c.*547A>C (n.*547A>C)
Xg.38675817A>GCA412982304TSPAN7c.554A>G (p.Asp185Gly)
c.605A>G (p.Asp202Gly)
n.498A>G
c.644A>G (p.Asp215Gly)
c.*580A>G (n.*580A>G)
c.*547A>G (n.*547A>G)
Xg.38675817A>TCA10386126TSPAN7c.554A>T (p.Asp185Val)
c.605A>T (p.Asp202Val)
n.498A>T
c.644A>T (p.Asp215Val)
c.*580A>T (n.*580A>T)
c.*547A>T (n.*547A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675818T>ACA412982305TSPAN7c.555T>A (p.Asp185Glu)
c.606T>A (p.Asp202Glu)
n.499T>A
c.645T>A (p.Asp215Glu)
c.*581T>A (n.*581T>A)
c.*548T>A (n.*548T>A)
gnomAD v4
Xg.38675818T>CCA515685439TSPAN7c.555T>C (p.Asp185=)
c.606T>C (p.Asp202=)
n.499T>C
c.645T>C (p.Asp215=)
c.*581T>C (n.*581T>C)
c.*548T>C (n.*548T>C)
Xg.38675818T>GCA412982306TSPAN7c.555T>G (p.Asp185Glu)
c.606T>G (p.Asp202Glu)
n.499T>G
c.645T>G (p.Asp215Glu)
c.*581T>G (n.*581T>G)
c.*548T>G (n.*548T>G)
Xg.38675819C>ACA412982307TSPAN7c.556C>A (p.Leu186Ile)
c.607C>A (p.Leu203Ile)
n.500C>A
c.646C>A (p.Leu216Ile)
c.*582C>A (n.*582C>A)
c.*549C>A (n.*549C>A)
dbSNP
Xg.38675819C=CA2424970065TSPAN7c.556C= (p.Leu186=)
c.607C= (p.Leu203=)
n.500C=
c.646C= (p.Leu216=)
c.*582C= (n.*582C=)
c.*549C= (n.*549C=)
Xg.38675819C>GCA412982308TSPAN7c.556C>G (p.Leu186Val)
c.607C>G (p.Leu203Val)
n.500C>G
c.646C>G (p.Leu216Val)
c.*582C>G (n.*582C>G)
c.*549C>G (n.*549C>G)
Xg.38675819C>TCA515685442TSPAN7c.556C>T (p.Leu186=)
c.607C>T (p.Leu203=)
n.500C>T
c.646C>T (p.Leu216=)
c.*582C>T (n.*582C>T)
c.*549C>T (n.*549C>T)
Xg.38675820T>ACA412982310TSPAN7c.557T>A (p.Leu186Gln)
c.608T>A (p.Leu203Gln)
n.501T>A
c.647T>A (p.Leu216Gln)
c.*583T>A (n.*583T>A)
c.*550T>A (n.*550T>A)
Xg.38675820T>CCA412982311TSPAN7c.557T>C (p.Leu186Pro)
c.608T>C (p.Leu203Pro)
n.501T>C
c.647T>C (p.Leu216Pro)
c.*583T>C (n.*583T>C)
c.*550T>C (n.*550T>C)
Xg.38675820T>GCA412982309TSPAN7c.557T>G (p.Leu186Arg)
c.608T>G (p.Leu203Arg)
n.501T>G
c.647T>G (p.Leu216Arg)
c.*583T>G (n.*583T>G)
c.*550T>G (n.*550T>G)
Xg.38675821A>CCA515685447TSPAN7c.558A>C (p.Leu186=)
c.609A>C (p.Leu203=)
n.502A>C
c.648A>C (p.Leu216=)
c.*584A>C (n.*584A>C)
c.*551A>C (n.*551A>C)
Xg.38675821A>GCA515685449TSPAN7c.558A>G (p.Leu186=)
c.609A>G (p.Leu203=)
n.502A>G
c.648A>G (p.Leu216=)
c.*584A>G (n.*584A>G)
c.*551A>G (n.*551A>G)
Xg.38675821A>TCA515685451TSPAN7c.558A>T (p.Leu186=)
c.609A>T (p.Leu203=)
n.502A>T
c.648A>T (p.Leu216=)
c.*584A>T (n.*584A>T)
c.*551A>T (n.*551A>T)
Xg.38675822C>ACA412982312TSPAN7c.559C>A (p.His187Asn)
c.610C>A (p.His204Asn)
n.503C>A
c.649C>A (p.His217Asn)
c.*585C>A (n.*585C>A)
c.*552C>A (n.*552C>A)
gnomAD v4
Xg.38675822C=CA2424970066TSPAN7c.559C= (p.His187=)
c.610C= (p.His204=)
n.503C=
c.649C= (p.His217=)
c.*585C= (n.*585C=)
c.*552C= (n.*552C=)
Xg.38675822C>GCA412982313TSPAN7c.559C>G (p.His187Asp)
c.610C>G (p.His204Asp)
n.503C>G
c.649C>G (p.His217Asp)
c.*585C>G (n.*585C>G)
c.*552C>G (n.*552C>G)
Xg.38675822C>TCA10386127TSPAN7c.559C>T (p.His187Tyr)
c.610C>T (p.His204Tyr)
n.503C>T
c.649C>T (p.His217Tyr)
c.*585C>T (n.*585C>T)
c.*552C>T (n.*552C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.38675823A>CCA412982314TSPAN7c.560A>C (p.His187Pro)
c.611A>C (p.His204Pro)
n.504A>C
c.650A>C (p.His217Pro)
c.*586A>C (n.*586A>C)
c.*553A>C (n.*553A>C)
Xg.38675823A>GCA412982315TSPAN7c.560A>G (p.His187Arg)
c.611A>G (p.His204Arg)
n.504A>G
c.650A>G (p.His217Arg)
c.*586A>G (n.*586A>G)
c.*553A>G (n.*553A>G)
Xg.38675823A>TCA412982316TSPAN7c.560A>T (p.His187Leu)
c.611A>T (p.His204Leu)
n.504A>T
c.650A>T (p.His217Leu)
c.*586A>T (n.*586A>T)
c.*553A>T (n.*553A>T)
Xg.38675824C>ACA412982317TSPAN7c.561C>A (p.His187Gln)
c.612C>A (p.His204Gln)
n.505C>A
c.651C>A (p.His217Gln)
c.*587C>A (n.*587C>A)
c.*554C>A (n.*554C>A)
Xg.38675824C>GCA412982318TSPAN7c.561C>G (p.His187Gln)
c.612C>G (p.His204Gln)
n.505C>G
c.651C>G (p.His217Gln)
c.*587C>G (n.*587C>G)
c.*554C>G (n.*554C>G)
Xg.38675824C>TCA515685463TSPAN7c.561C>T (p.His187=)
c.612C>T (p.His204=)
n.505C>T
c.651C>T (p.His217=)
c.*587C>T (n.*587C>T)
c.*554C>T (n.*554C>T)
Xg.38675825A>CCA412982319TSPAN7c.562A>C (p.Asn188His)
c.613A>C (p.Asn205His)
n.506A>C
c.652A>C (p.Asn218His)
c.*588A>C (n.*588A>C)
c.*555A>C (n.*555A>C)
Xg.38675825A>GCA412982320TSPAN7c.562A>G (p.Asn188Asp)
c.613A>G (p.Asn205Asp)
n.506A>G
c.652A>G (p.Asn218Asp)
c.*588A>G (n.*588A>G)
c.*555A>G (n.*555A>G)
Xg.38675825A>TCA412982321TSPAN7c.562A>T (p.Asn188Tyr)
c.613A>T (p.Asn205Tyr)
n.506A>T
c.652A>T (p.Asn218Tyr)
c.*588A>T (n.*588A>T)
c.*555A>T (n.*555A>T)
Xg.38675826A>CCA412982322TSPAN7c.563A>C (p.Asn188Thr)
c.614A>C (p.Asn205Thr)
n.507A>C
c.653A>C (p.Asn218Thr)
c.*589A>C (n.*589A>C)
c.*556A>C (n.*556A>C)
Xg.38675826A>GCA412982323TSPAN7c.563A>G (p.Asn188Ser)
c.614A>G (p.Asn205Ser)
n.507A>G
c.653A>G (p.Asn218Ser)
c.*589A>G (n.*589A>G)
c.*556A>G (n.*556A>G)
Xg.38675826A>TCA412982324TSPAN7c.563A>T (p.Asn188Ile)
c.614A>T (p.Asn205Ile)
n.507A>T
c.653A>T (p.Asn218Ile)
c.*589A>T (n.*589A>T)
c.*556A>T (n.*556A>T)
Xg.38675827T>ACA412982326TSPAN7c.564T>A (p.Asn188Lys)
c.615T>A (p.Asn205Lys)
n.508T>A
c.654T>A (p.Asn218Lys)
c.*590T>A (n.*590T>A)
c.*557T>A (n.*557T>A)
Xg.38675827T>CCA515685473TSPAN7c.564T>C (p.Asn188=)
c.615T>C (p.Asn205=)
n.508T>C
c.654T>C (p.Asn218=)
c.*590T>C (n.*590T>C)
c.*557T>C (n.*557T>C)
Xg.38675827T>GCA412982325TSPAN7c.564T>G (p.Asn188Lys)
c.615T>G (p.Asn205Lys)
n.508T>G
c.654T>G (p.Asn218Lys)
c.*590T>G (n.*590T>G)
c.*557T>G (n.*557T>G)
Xg.38675828C>ACA412982327TSPAN7c.565C>A (p.Leu189Met)
c.616C>A (p.Leu206Met)
n.509C>A
c.655C>A (p.Leu219Met)
c.*591C>A (n.*591C>A)
c.*558C>A (n.*558C>A)
Xg.38675828C>GCA412982328TSPAN7c.565C>G (p.Leu189Val)
c.616C>G (p.Leu206Val)
n.509C>G
c.655C>G (p.Leu219Val)
c.*591C>G (n.*591C>G)
c.*558C>G (n.*558C>G)
COSMIC COSMIC
Xg.38675828C>TCA515685478TSPAN7c.565C>T (p.Leu189=)
c.616C>T (p.Leu206=)
n.509C>T
c.655C>T (p.Leu219=)
c.*591C>T (n.*591C>T)
c.*558C>T (n.*558C>T)
Xg.38675831_38675834delCA2579585171TSPAN7c.568_571del (p.Thr190TrpfsTer15)
c.619_622del (p.Thr207TrpfsTer15)
n.512_515del
c.658_661del (p.Thr220TrpfsTer15)
c.*594_*597del (n.*594_*597del)
c.*561_*564del (n.*561_*564del)
Xg.38675829T>ACA412982329TSPAN7c.566T>A (p.Leu189Gln)
c.617T>A (p.Leu206Gln)
n.510T>A
c.656T>A (p.Leu219Gln)
c.*592T>A (n.*592T>A)
c.*559T>A (n.*559T>A)
Xg.38675829T>CCA412982330TSPAN7c.566T>C (p.Leu189Pro)
c.617T>C (p.Leu206Pro)
n.510T>C
c.656T>C (p.Leu219Pro)
c.*592T>C (n.*592T>C)
c.*559T>C (n.*559T>C)
Xg.38675829T>GCA412982331TSPAN7c.566T>G (p.Leu189Arg)
c.617T>G (p.Leu206Arg)
n.510T>G
c.656T>G (p.Leu219Arg)
c.*592T>G (n.*592T>G)
c.*559T>G (n.*559T>G)
Xg.38675830G>ACA515685484TSPAN7c.567G>A (p.Leu189=)
c.618G>A (p.Leu206=)
n.511G>A
c.657G>A (p.Leu219=)
c.*593G>A (n.*593G>A)
c.*560G>A (n.*560G>A)
Xg.38675830G>CCA515685486TSPAN7c.567G>C (p.Leu189=)
c.618G>C (p.Leu206=)
n.511G>C
c.657G>C (p.Leu219=)
c.*593G>C (n.*593G>C)
c.*560G>C (n.*560G>C)
Xg.38675830G>TCA515685488TSPAN7c.567G>T (p.Leu189=)
c.618G>T (p.Leu206=)
n.511G>T
c.657G>T (p.Leu219=)
c.*593G>T (n.*593G>T)
c.*560G>T (n.*560G>T)
Xg.38675831A>CCA412982332TSPAN7c.568A>C (p.Thr190Pro)
c.619A>C (p.Thr207Pro)
n.512A>C
c.658A>C (p.Thr220Pro)
c.*594A>C (n.*594A>C)
c.*561A>C (n.*561A>C)
Xg.38675831A>GCA412982333TSPAN7c.568A>G (p.Thr190Ala)
c.619A>G (p.Thr207Ala)
n.512A>G
c.658A>G (p.Thr220Ala)
c.*594A>G (n.*594A>G)
c.*561A>G (n.*561A>G)
Xg.38675831A>TCA412982334TSPAN7c.568A>T (p.Thr190Ser)
c.619A>T (p.Thr207Ser)
n.512A>T
c.658A>T (p.Thr220Ser)
c.*594A>T (n.*594A>T)
c.*561A>T (n.*561A>T)
Xg.38675832C>ACA412982335TSPAN7c.569C>A (p.Thr190Asn)
c.620C>A (p.Thr207Asn)
n.513C>A
c.659C>A (p.Thr220Asn)
c.*595C>A (n.*595C>A)
c.*562C>A (n.*562C>A)
Xg.38675832C>GCA412982337TSPAN7c.569C>G (p.Thr190Ser)
c.620C>G (p.Thr207Ser)
n.513C>G
c.659C>G (p.Thr220Ser)
c.*595C>G (n.*595C>G)
c.*562C>G (n.*562C>G)
Xg.38675832C>TCA412982336TSPAN7c.569C>T (p.Thr190Ile)
c.620C>T (p.Thr207Ile)
n.513C>T
c.659C>T (p.Thr220Ile)
c.*595C>T (n.*595C>T)
c.*562C>T (n.*562C>T)
Xg.38675833T>ACA10386128TSPAN7c.570T>A (p.Thr190=)
c.621T>A (p.Thr207=)
n.514T>A
c.660T>A (p.Thr220=)
c.*596T>A (n.*596T>A)
c.*563T>A (n.*563T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.38675833T>CCA515685498TSPAN7c.570T>C (p.Thr190=)
c.621T>C (p.Thr207=)
n.514T>C
c.660T>C (p.Thr220=)
c.*596T>C (n.*596T>C)
c.*563T>C (n.*563T>C)
Xg.38675833T>GCA515685500TSPAN7c.570T>G (p.Thr190=)
c.621T>G (p.Thr207=)
n.514T>G
c.660T>G (p.Thr220=)
c.*596T>G (n.*596T>G)
c.*563T>G (n.*563T>G)
Xg.38675833T=CA2424970067TSPAN7c.570T= (p.Thr190=)
c.621T= (p.Thr207=)
n.514T=
c.660T= (p.Thr220=)
c.*596T= (n.*596T=)
c.*563T= (n.*563T=)
Xg.38675835_38675836delCA2580616987TSPAN7c.572_573del (p.Val191GlyfsTer6)
c.623_624del (p.Val208GlyfsTer6)
n.516_517del
c.662_663del (p.Val221GlyfsTer6)
c.*598_*599del (n.*598_*599del)
c.*565_*566del (n.*565_*566del)
ClinVar
Xg.38675834G>ACA412982338TSPAN7c.571G>A (p.Val191Met)
c.622G>A (p.Val208Met)
n.515G>A
c.661G>A (p.Val221Met)
c.*597G>A (n.*597G>A)
c.*564G>A (n.*564G>A)
Xg.38675834G>CCA412982339TSPAN7c.571G>C (p.Val191Leu)
c.622G>C (p.Val208Leu)
n.515G>C
c.661G>C (p.Val221Leu)
c.*597G>C (n.*597G>C)
c.*564G>C (n.*564G>C)
Xg.38675834G>TCA412982340TSPAN7c.571G>T (p.Val191Leu)
c.622G>T (p.Val208Leu)
n.515G>T
c.661G>T (p.Val221Leu)
c.*597G>T (n.*597G>T)
c.*564G>T (n.*564G>T)
Xg.38675835T>ACA412982343TSPAN7c.572T>A (p.Val191Glu)
c.623T>A (p.Val208Glu)
n.516T>A
c.662T>A (p.Val221Glu)
c.*598T>A (n.*598T>A)
c.*565T>A (n.*565T>A)
Xg.38675835T>CCA412982341TSPAN7c.572T>C (p.Val191Ala)
c.623T>C (p.Val208Ala)
n.516T>C
c.662T>C (p.Val221Ala)
c.*598T>C (n.*598T>C)
c.*565T>C (n.*565T>C)
Xg.38675835T>GCA412982342TSPAN7c.572T>G (p.Val191Gly)
c.623T>G (p.Val208Gly)
n.516T>G
c.662T>G (p.Val221Gly)
c.*598T>G (n.*598T>G)
c.*565T>G (n.*565T>G)
gnomAD v4
Xg.38675836G>ACA515685509TSPAN7c.573G>A (p.Val191=)
c.624G>A (p.Val208=)
n.517G>A
c.663G>A (p.Val221=)
c.*599G>A (n.*599G>A)
c.*566G>A (n.*566G>A)
Xg.38675836G>CCA515685511TSPAN7c.573G>C (p.Val191=)
c.624G>C (p.Val208=)
n.517G>C
c.663G>C (p.Val221=)
c.*599G>C (n.*599G>C)
c.*566G>C (n.*566G>C)
Xg.38675836G>TCA515685513TSPAN7c.573G>T (p.Val191=)
c.624G>T (p.Val208=)
n.517G>T
c.663G>T (p.Val221=)
c.*599G>T (n.*599G>T)
c.*566G>T (n.*566G>T)
Xg.38675837G>ACA412982344TSPAN7c.574G>A (p.Ala192Thr)
c.625G>A (p.Ala209Thr)
n.518G>A
c.664G>A (p.Ala222Thr)
c.*600G>A (n.*600G>A)
c.*567G>A (n.*567G>A)
Xg.38675837G>CCA412982345TSPAN7c.574G>C (p.Ala192Pro)
c.625G>C (p.Ala209Pro)
n.518G>C
c.664G>C (p.Ala222Pro)
c.*600G>C (n.*600G>C)
c.*567G>C (n.*567G>C)
dbSNP
Xg.38675837G>TCA412982346TSPAN7c.574G>T (p.Ala192Ser)
c.625G>T (p.Ala209Ser)
n.518G>T
c.664G>T (p.Ala222Ser)
c.*600G>T (n.*600G>T)
c.*567G>T (n.*567G>T)
Xg.38675838C>ACA412982347TSPAN7c.575C>A (p.Ala192Asp)
c.626C>A (p.Ala209Asp)
n.519C>A
c.665C>A (p.Ala222Asp)
c.*601C>A (n.*601C>A)
c.*568C>A (n.*568C>A)
gnomAD v4
Xg.38675838C>GCA412982348TSPAN7c.575C>G (p.Ala192Gly)
c.626C>G (p.Ala209Gly)
n.519C>G
c.665C>G (p.Ala222Gly)
c.*601C>G (n.*601C>G)
c.*568C>G (n.*568C>G)
Xg.38675838C>TCA412982349TSPAN7c.575C>T (p.Ala192Val)
c.626C>T (p.Ala209Val)
n.519C>T
c.665C>T (p.Ala222Val)
c.*601C>T (n.*601C>T)
c.*568C>T (n.*568C>T)
Xg.38675839C>ACA515685524TSPAN7c.576C>A (p.Ala192=)
c.627C>A (p.Ala209=)
n.520C>A
c.666C>A (p.Ala222=)
c.*602C>A (n.*602C>A)
c.*569C>A (n.*569C>A)
dbSNP
Xg.38675839C=CA2424970068TSPAN7c.576C= (p.Ala192=)
c.627C= (p.Ala209=)
n.520C=
c.666C= (p.Ala222=)
c.*602C= (n.*602C=)
c.*569C= (n.*569C=)
Xg.38675839C>GCA515685522TSPAN7c.576C>G (p.Ala192=)
c.627C>G (p.Ala209=)
n.520C>G
c.666C>G (p.Ala222=)
c.*602C>G (n.*602C>G)
c.*569C>G (n.*569C>G)
Xg.38675839C>TCA10386129TSPAN7c.576C>T (p.Ala192=)
c.627C>T (p.Ala209=)
n.520C>T
c.666C>T (p.Ala222=)
c.*602C>T (n.*602C>T)
c.*569C>T (n.*569C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.38675840G>ACA10386130TSPAN7c.577G>A (p.Ala193Thr)
c.628G>A (p.Ala210Thr)
n.521G>A
c.667G>A (p.Ala223Thr)
c.*603G>A (n.*603G>A)
c.*570G>A (n.*570G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.38675840G>CCA412982350TSPAN7c.577G>C (p.Ala193Pro)
c.628G>C (p.Ala210Pro)
n.521G>C
c.667G>C (p.Ala223Pro)
c.*603G>C (n.*603G>C)
c.*570G>C (n.*570G>C)
Xg.38675840G=CA2424970069TSPAN7c.577G= (p.Ala193=)
c.628G= (p.Ala210=)
n.521G=
c.667G= (p.Ala223=)
c.*603G= (n.*603G=)
c.*570G= (n.*570G=)
Xg.38675840G>TCA412982351TSPAN7c.577G>T (p.Ala193Ser)
c.628G>T (p.Ala210Ser)
n.521G>T
c.667G>T (p.Ala223Ser)
c.*603G>T (n.*603G>T)
c.*570G>T (n.*570G>T)
gnomAD v4
Xg.38675841C>ACA412982352TSPAN7c.578C>A (p.Ala193Asp)
c.629C>A (p.Ala210Asp)
n.522C>A
c.668C>A (p.Ala223Asp)
c.*604C>A (n.*604C>A)
c.*571C>A (n.*571C>A)
Xg.38675841C>GCA412982353TSPAN7c.578C>G (p.Ala193Gly)
c.629C>G (p.Ala210Gly)
n.522C>G
c.668C>G (p.Ala223Gly)
c.*604C>G (n.*604C>G)
c.*571C>G (n.*571C>G)
Xg.38675841C>TCA412982354TSPAN7c.578C>T (p.Ala193Val)
c.629C>T (p.Ala210Val)
n.522C>T
c.668C>T (p.Ala223Val)
c.*604C>T (n.*604C>T)
c.*571C>T (n.*571C>T)
Xg.38675842C>ACA515685528TSPAN7c.579C>A (p.Ala193=)
c.630C>A (p.Ala210=)
n.523C>A
c.669C>A (p.Ala223=)
c.*605C>A (n.*605C>A)
c.*572C>A (n.*572C>A)
Xg.38675842C=CA2424970070TSPAN7c.579C= (p.Ala193=)
c.630C= (p.Ala210=)
n.523C=
c.669C= (p.Ala223=)
c.*605C= (n.*605C=)
c.*572C= (n.*572C=)
Xg.38675842C>GCA515685529TSPAN7c.579C>G (p.Ala193=)
c.630C>G (p.Ala210=)
n.523C>G
c.669C>G (p.Ala223=)
c.*605C>G (n.*605C>G)
c.*572C>G (n.*572C>G)
Xg.38675842C>TCA515685530TSPAN7c.579C>T (p.Ala193=)
c.630C>T (p.Ala210=)
n.523C>T
c.669C>T (p.Ala223=)
c.*605C>T (n.*605C>T)
c.*572C>T (n.*572C>T)
dbSNP
Xg.38675843A>CCA412982355TSPAN7c.580A>C (p.Thr194Pro)
c.631A>C (p.Thr211Pro)
n.524A>C
c.670A>C (p.Thr224Pro)
c.*606A>C (n.*606A>C)
c.*573A>C (n.*573A>C)
Xg.38675843A>GCA412982357TSPAN7c.580A>G (p.Thr194Ala)
c.631A>G (p.Thr211Ala)
n.524A>G
c.670A>G (p.Thr224Ala)
c.*606A>G (n.*606A>G)
c.*573A>G (n.*573A>G)
Xg.38675843A>TCA412982356TSPAN7c.580A>T (p.Thr194Ser)
c.631A>T (p.Thr211Ser)
n.524A>T
c.670A>T (p.Thr224Ser)
c.*606A>T (n.*606A>T)
c.*573A>T (n.*573A>T)
Xg.38675844C>ACA412982358TSPAN7c.581C>A (p.Thr194Asn)
c.632C>A (p.Thr211Asn)
n.525C>A
c.671C>A (p.Thr224Asn)
c.*607C>A (n.*607C>A)
c.*574C>A (n.*574C>A)
Xg.38675844C>GCA412982359TSPAN7c.581C>G (p.Thr194Ser)
c.632C>G (p.Thr211Ser)
n.525C>G
c.671C>G (p.Thr224Ser)
c.*607C>G (n.*607C>G)
c.*574C>G (n.*574C>G)
Xg.38675844C>TCA412982360TSPAN7c.581C>T (p.Thr194Ile)
c.632C>T (p.Thr211Ile)
n.525C>T
c.671C>T (p.Thr224Ile)
c.*607C>T (n.*607C>T)
c.*574C>T (n.*574C>T)
Xg.38675845C>ACA515685531TSPAN7c.582C>A (p.Thr194=)
c.633C>A (p.Thr211=)
n.526C>A
c.672C>A (p.Thr224=)
c.*608C>A (n.*608C>A)
c.*575C>A (n.*575C>A)
Xg.38675845C>GCA515685533TSPAN7c.582C>G (p.Thr194=)
c.633C>G (p.Thr211=)
n.526C>G
c.672C>G (p.Thr224=)
c.*608C>G (n.*608C>G)
c.*575C>G (n.*575C>G)
Xg.38675845C>TCA515685532TSPAN7c.582C>T (p.Thr194=)
c.633C>T (p.Thr211=)
n.526C>T
c.672C>T (p.Thr224=)
c.*608C>T (n.*608C>T)
c.*575C>T (n.*575C>T)
Xg.38675846A>CCA412982361TSPAN7c.583A>C (p.Lys195Gln)
c.634A>C (p.Lys212Gln)
n.527A>C
c.673A>C (p.Lys225Gln)
c.*609A>C (n.*609A>C)
c.*576A>C (n.*576A>C)
Xg.38675846A>GCA412982362TSPAN7c.583A>G (p.Lys195Glu)
c.634A>G (p.Lys212Glu)
n.527A>G
c.673A>G (p.Lys225Glu)
c.*609A>G (n.*609A>G)
c.*576A>G (n.*576A>G)
Xg.38675846A>TCA412982363TSPAN7c.583A>T (p.Lys195Ter)
c.634A>T (p.Lys212Ter)
n.527A>T
c.673A>T (p.Lys225Ter)
c.*609A>T (n.*609A>T)
c.*576A>T (n.*576A>T)
Xg.38675847A>CCA412982366TSPAN7c.584A>C (p.Lys195Thr)
c.635A>C (p.Lys212Thr)
n.528A>C
c.674A>C (p.Lys225Thr)
c.*610A>C (n.*610A>C)
c.*577A>C (n.*577A>C)
Xg.38675847A>GCA412982364TSPAN7c.584A>G (p.Lys195Arg)
c.635A>G (p.Lys212Arg)
n.528A>G
c.674A>G (p.Lys225Arg)
c.*610A>G (n.*610A>G)
c.*577A>G (n.*577A>G)
gnomAD v4
Xg.38675847A>TCA412982365TSPAN7c.584A>T (p.Lys195Ile)
c.635A>T (p.Lys212Ile)
n.528A>T
c.674A>T (p.Lys225Ile)
c.*610A>T (n.*610A>T)
c.*577A>T (n.*577A>T)
Xg.38675848A>CCA412982367TSPAN7c.585A>C (p.Lys195Asn)
c.636A>C (p.Lys212Asn)
n.529A>C
c.675A>C (p.Lys225Asn)
c.*611A>C (n.*611A>C)
c.*578A>C (n.*578A>C)
Xg.38675848A>GCA515685534TSPAN7c.585A>G (p.Lys195=)
c.636A>G (p.Lys212=)
n.529A>G
c.675A>G (p.Lys225=)
c.*611A>G (n.*611A>G)
c.*578A>G (n.*578A>G)
Xg.38675848A>TCA412982368TSPAN7c.585A>T (p.Lys195Asn)
c.636A>T (p.Lys212Asn)
n.529A>T
c.675A>T (p.Lys225Asn)
c.*611A>T (n.*611A>T)
c.*578A>T (n.*578A>T)
Xg.38675849G>ACA412982369TSPAN7c.586G>A (p.Val196Ile)
c.637G>A (p.Val213Ile)
n.530G>A
c.676G>A (p.Val226Ile)
c.*612G>A (n.*612G>A)
c.*579G>A (n.*579G>A)
Xg.38675849G>CCA412982370TSPAN7c.586G>C (p.Val196Leu)
c.637G>C (p.Val213Leu)
n.530G>C
c.676G>C (p.Val226Leu)
c.*612G>C (n.*612G>C)
c.*579G>C (n.*579G>C)
Xg.38675849G>TCA412982371TSPAN7c.586G>T (p.Val196Phe)
c.637G>T (p.Val213Phe)
n.530G>T
c.676G>T (p.Val226Phe)
c.*612G>T (n.*612G>T)
c.*579G>T (n.*579G>T)
Xg.38675850T>ACA412982372TSPAN7c.587T>A (p.Val196Asp)
c.638T>A (p.Val213Asp)
n.531T>A
c.677T>A (p.Val226Asp)
c.*613T>A (n.*613T>A)
c.*580T>A (n.*580T>A)
Xg.38675850T>CCA412982374TSPAN7c.587T>C (p.Val196Ala)
c.638T>C (p.Val213Ala)
n.531T>C
c.677T>C (p.Val226Ala)
c.*613T>C (n.*613T>C)
c.*580T>C (n.*580T>C)
Xg.38675850T>GCA412982373TSPAN7c.587T>G (p.Val196Gly)
c.638T>G (p.Val213Gly)
n.531T>G
c.677T>G (p.Val226Gly)
c.*613T>G (n.*613T>G)
c.*580T>G (n.*580T>G)
Xg.38675851T>ACA515685535TSPAN7c.588T>A (p.Val196=)
c.639T>A (p.Val213=)
n.532T>A
c.678T>A (p.Val226=)
c.*614T>A (n.*614T>A)
c.*581T>A (n.*581T>A)
Xg.38675851T>CCA515685536TSPAN7c.588T>C (p.Val196=)
c.639T>C (p.Val213=)
n.532T>C
c.678T>C (p.Val226=)
c.*614T>C (n.*614T>C)
c.*581T>C (n.*581T>C)
dbSNP gnomAD v2
Xg.38675851T>GCA515685537TSPAN7c.588T>G (p.Val196=)
c.639T>G (p.Val213=)
n.532T>G
c.678T>G (p.Val226=)
c.*614T>G (n.*614T>G)
c.*581T>G (n.*581T>G)
Xg.38675851T=CA2424970071TSPAN7c.588T= (p.Val196=)
c.639T= (p.Val213=)
n.532T=
c.678T= (p.Val226=)
c.*614T= (n.*614T=)
c.*581T= (n.*581T=)
Xg.38675852A>CCA412982375TSPAN7c.589A>C (p.Asn197His)
c.640A>C (p.Asn214His)
n.533A>C
c.679A>C (p.Asn227His)
c.*615A>C (n.*615A>C)
c.*582A>C (n.*582A>C)
Xg.38675852A>GCA412982376TSPAN7c.589A>G (p.Asn197Asp)
c.640A>G (p.Asn214Asp)
n.533A>G
c.679A>G (p.Asn227Asp)
c.*615A>G (n.*615A>G)
c.*582A>G (n.*582A>G)
Xg.38675852A>TCA412982377TSPAN7c.589A>T (p.Asn197Tyr)
c.640A>T (p.Asn214Tyr)
n.533A>T
c.679A>T (p.Asn227Tyr)
c.*615A>T (n.*615A>T)
c.*582A>T (n.*582A>T)
Xg.38675853A>CCA412982378TSPAN7c.590A>C (p.Asn197Thr)
c.641A>C (p.Asn214Thr)
n.534A>C
c.680A>C (p.Asn227Thr)
c.*616A>C (n.*616A>C)
c.*583A>C (n.*583A>C)
gnomAD v4
Xg.38675853A>GCA412982379TSPAN7c.590A>G (p.Asn197Ser)
c.641A>G (p.Asn214Ser)
n.534A>G
c.680A>G (p.Asn227Ser)
c.*616A>G (n.*616A>G)
c.*583A>G (n.*583A>G)
COSMIC COSMIC COSMIC
Xg.38675853A>TCA412982380TSPAN7c.590A>T (p.Asn197Ile)
c.641A>T (p.Asn214Ile)
n.534A>T
c.680A>T (p.Asn227Ile)
c.*616A>T (n.*616A>T)
c.*583A>T (n.*583A>T)
Xg.38675854C>ACA412982381TSPAN7c.591C>A (p.Asn197Lys)
c.642C>A (p.Asn214Lys)
n.535C>A
c.681C>A (p.Asn227Lys)
c.*617C>A (n.*617C>A)
c.*584C>A (n.*584C>A)
dbSNP gnomAD v2 gnomAD v4
Xg.38675854C=CA2424970072TSPAN7c.591C= (p.Asn197=)
c.642C= (p.Asn214=)
n.535C=
c.681C= (p.Asn227=)
c.*617C= (n.*617C=)
c.*584C= (n.*584C=)
Xg.38675854C>GCA412982382TSPAN7c.591C>G (p.Asn197Lys)
c.642C>G (p.Asn214Lys)
n.535C>G
c.681C>G (p.Asn227Lys)
c.*617C>G (n.*617C>G)
c.*584C>G (n.*584C>G)
Xg.38675854C>TCA515685538TSPAN7c.591C>T (p.Asn197=)
c.642C>T (p.Asn214=)
n.535C>T
c.681C>T (p.Asn227=)
c.*617C>T (n.*617C>T)
c.*584C>T (n.*584C>T)
Xg.38675855C>ACA412982383TSPAN7c.592C>A (p.Gln198Lys)
c.643C>A (p.Gln215Lys)
n.536C>A
c.682C>A (p.Gln228Lys)
c.*618C>A (n.*618C>A)
c.*585C>A (n.*585C>A)
Xg.38675855C>GCA412982384TSPAN7c.592C>G (p.Gln198Glu)
c.643C>G (p.Gln215Glu)
n.536C>G
c.682C>G (p.Gln228Glu)
c.*618C>G (n.*618C>G)
c.*585C>G (n.*585C>G)
Xg.38675855C>TCA412982385TSPAN7c.592C>T (p.Gln198Ter)
c.643C>T (p.Gln215Ter)
n.536C>T
c.682C>T (p.Gln228Ter)
c.*618C>T (n.*618C>T)
c.*585C>T (n.*585C>T)
COSMIC COSMIC COSMIC
Xg.38675856A>CCA412982386TSPAN7c.593A>C (p.Gln198Pro)
c.644A>C (p.Gln215Pro)
n.537A>C
c.683A>C (p.Gln228Pro)
c.*619A>C (n.*619A>C)
c.*586A>C (n.*586A>C)
Xg.38675856A>GCA412982388TSPAN7c.593A>G (p.Gln198Arg)
c.644A>G (p.Gln215Arg)
n.537A>G
c.683A>G (p.Gln228Arg)
c.*619A>G (n.*619A>G)
c.*586A>G (n.*586A>G)
Xg.38675856A>TCA412982387TSPAN7c.593A>T (p.Gln198Leu)
c.644A>T (p.Gln215Leu)
n.537A>T
c.683A>T (p.Gln228Leu)
c.*619A>T (n.*619A>T)
c.*586A>T (n.*586A>T)
Xg.38675857G>ACA515685539TSPAN7c.594G>A (p.Gln198=)
c.645G>A (p.Gln215=)
n.538G>A
c.684G>A (p.Gln228=)
c.*620G>A (n.*620G>A)
c.*587G>A (n.*587G>A)
Xg.38675857G>CCA412982389TSPAN7c.594G>C (p.Gln198His)
c.645G>C (p.Gln215His)
n.538G>C
c.684G>C (p.Gln228His)
c.*620G>C (n.*620G>C)
c.*587G>C (n.*587G>C)
Xg.38675857G>TCA412982390TSPAN7c.594G>T (p.Gln198His)
c.645G>T (p.Gln215His)
n.538G>T
c.684G>T (p.Gln228His)
c.*620G>T (n.*620G>T)
c.*587G>T (n.*587G>T)
Xg.38675858A>CCA412982391TSPAN7c.595A>C (p.Lys199Gln)
c.646A>C (p.Lys216Gln)
n.539A>C
c.685A>C (p.Lys229Gln)
c.*621A>C (n.*621A>C)
c.*588A>C (n.*588A>C)
Xg.38675858A>GCA412982392TSPAN7c.595A>G (p.Lys199Glu)
c.646A>G (p.Lys216Glu)
n.539A>G
c.685A>G (p.Lys229Glu)
c.*621A>G (n.*621A>G)
c.*588A>G (n.*588A>G)
gnomAD v4
Xg.38675858A>TCA412982393TSPAN7c.595A>T (p.Lys199Ter)
c.646A>T (p.Lys216Ter)
n.539A>T
c.685A>T (p.Lys229Ter)
c.*621A>T (n.*621A>T)
c.*588A>T (n.*588A>T)
Xg.38675859A>CCA412982394TSPAN7c.596A>C (p.Lys199Thr)
c.647A>C (p.Lys216Thr)
n.540A>C
c.686A>C (p.Lys229Thr)
c.*622A>C (n.*622A>C)
c.*589A>C (n.*589A>C)
Xg.38675859A>GCA412982395TSPAN7c.596A>G (p.Lys199Arg)
c.647A>G (p.Lys216Arg)
n.540A>G
c.686A>G (p.Lys229Arg)
c.*622A>G (n.*622A>G)
c.*589A>G (n.*589A>G)
Xg.38675859A>TCA412982396TSPAN7c.596A>T (p.Lys199Met)
c.647A>T (p.Lys216Met)
n.540A>T
c.686A>T (p.Lys229Met)
c.*622A>T (n.*622A>T)
c.*589A>T (n.*589A>T)
Xg.38675860G>ACA515685540TSPAN7c.597G>A (p.Lys199=)
c.648G>A (p.Lys216=)
n.541G>A
c.687G>A (p.Lys229=)
c.*623G>A (n.*623G>A)
c.*590G>A (n.*590G>A)
Xg.38675860G>CCA412982397TSPAN7c.597G>C (p.Lys199Asn)
c.648G>C (p.Lys216Asn)
n.541G>C
c.687G>C (p.Lys229Asn)
c.*623G>C (n.*623G>C)
c.*590G>C (n.*590G>C)
Xg.38675860G>TCA412982398TSPAN7c.597G>T (p.Lys199Asn)
c.648G>T (p.Lys216Asn)
n.541G>T
c.687G>T (p.Lys229Asn)
c.*623G>T (n.*623G>T)
c.*590G>T (n.*590G>T)
Xg.38675861G>ACA412982399TSPAN7c.597+1G>A (n.597+1G>A)
c.648+1G>A (n.648+1G>A)
n.541+1G>A
c.687+1G>A (n.687+1G>A)
c.*623+1G>A (n.*623+1G>A)
c.*590+1G>A (n.*590+1G>A)
Xg.38675861G>CCA412982400TSPAN7c.597+1G>C (n.597+1G>C)
c.648+1G>C (n.648+1G>C)
n.541+1G>C
c.687+1G>C (n.687+1G>C)
c.*623+1G>C (n.*623+1G>C)
c.*590+1G>C (n.*590+1G>C)
Xg.38675861G>TCA412982401TSPAN7c.597+1G>T (n.597+1G>T)
c.648+1G>T (n.648+1G>T)
n.541+1G>T
c.687+1G>T (n.687+1G>T)
c.*623+1G>T (n.*623+1G>T)
c.*590+1G>T (n.*590+1G>T)
Xg.38675862T>ACA412982404TSPAN7c.597+2T>A (n.597+2T>A)
c.648+2T>A (n.648+2T>A)
n.541+2T>A
c.687+2T>A (n.687+2T>A)
c.*623+2T>A (n.*623+2T>A)
c.*590+2T>A (n.*590+2T>A)
Xg.38675862T>CCA412982403TSPAN7c.597+2T>C (n.597+2T>C)
c.648+2T>C (n.648+2T>C)
n.541+2T>C
c.687+2T>C (n.687+2T>C)
c.*623+2T>C (n.*623+2T>C)
c.*590+2T>C (n.*590+2T>C)
Xg.38675862T>GCA412982402TSPAN7c.597+2T>G (n.597+2T>G)
c.648+2T>G (n.648+2T>G)
n.541+2T>G
c.687+2T>G (n.687+2T>G)
c.*623+2T>G (n.*623+2T>G)
c.*590+2T>G (n.*590+2T>G)

Number of alleles fetched