Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.38675762G>A | CA412982176 | TSPAN7 | c.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 | |
X | g.38675762G>C | CA412982177 | TSPAN7 | c.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 | |
X | g.38675762G>T | CA412982178 | TSPAN7 | c.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 | |
X | g.38675763A>C | CA412982179 | TSPAN7 | c.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 | |
X | g.38675763A>G | CA412982180 | TSPAN7 | c.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 | |
X | g.38675763A>T | CA412982181 | TSPAN7 | c.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 | |
X | g.38675764G>A | CA515685228 | TSPAN7 | c.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 | |
X | g.38675764G>C | CA412982183 | TSPAN7 | c.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 | |
X | g.38675764G>T | CA412982182 | TSPAN7 | c.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 | |
X | g.38675765C>A | CA412982184 | TSPAN7 | c.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 | |
X | g.38675765C>G | CA412982185 | TSPAN7 | c.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 | |
X | g.38675765C>T | CA412982186 | TSPAN7 | c.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 | |
X | g.38675766A= | CA2424970042 | TSPAN7 | c.503A= (p.His168=) c.554A= (p.His185=) n.447A= c.593A= (p.His198=) c.*529A= (n.*529A=) c.*496A= (n.*496A=) n.686A= | |
X | g.38675766A>C | CA412982187 | TSPAN7 | c.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 | |
X | g.38675766A>G | CA10386114 | TSPAN7 | c.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 |
X | g.38675766A>T | CA412982188 | TSPAN7 | c.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 | |
X | g.38675767T>A | CA412982190 | TSPAN7 | c.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 | |
X | g.38675767T>C | CA515685239 | TSPAN7 | c.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 | |
X | g.38675767T>G | CA412982189 | TSPAN7 | c.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 | |
X | g.38675768G>A | CA412982191 | TSPAN7 | c.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 | |
X | g.38675768G>C | CA412982192 | TSPAN7 | c.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 | |
X | g.38675768G>T | CA412982193 | TSPAN7 | c.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 | |
X | g.38675769G>A | CA412982194 | TSPAN7 | c.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 | |
X | g.38675769G>C | CA412982195 | TSPAN7 | c.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 | |
X | g.38675769G>T | CA412982196 | TSPAN7 | c.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 | |
X | g.38675770C>A | CA515685252 | TSPAN7 | c.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 | |
X | g.38675770C>G | CA515685248 | TSPAN7 | c.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 | |
X | g.38675770C>T | CA515685250 | TSPAN7 | c.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 | |
X | g.38675771A>C | CA412982197 | TSPAN7 | c.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 | |
X | g.38675771A>G | CA412982199 | TSPAN7 | c.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 | |
X | g.38675771A>T | CA412982198 | TSPAN7 | c.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 | |
X | g.38675772T>A | CA412982200 | TSPAN7 | c.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 | |
X | g.38675772T>C | CA412982201 | TSPAN7 | c.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 |
X | g.38675772T>G | CA412982202 | TSPAN7 | c.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 | |
X | g.38675772T= | CA2424970044 | TSPAN7 | c.509T= (p.Ile170=) c.560T= (p.Ile187=) n.453T= c.599T= (p.Ile200=) c.*535T= (n.*535T=) c.*502T= (n.*502T=) n.692T= | |
X | g.38675772_38675773delinsTC | CA2424970043 | TSPAN7 | c.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 | |
X | g.38675773C>A | CA515685269 | TSPAN7 | c.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 | |
X | g.38675773C>G | CA412982203 | TSPAN7 | c.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 | |
X | g.38675773C>T | CA515685268 | TSPAN7 | c.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 |
X | g.38675779dup | CA10386115 | TSPAN7 | c.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 |
X | g.38675779del | CA10386116 | TSPAN7 | c.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 |
X | g.38675774C>A | CA412982204 | TSPAN7 | c.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 | |
X | g.38675774C>G | CA412982205 | TSPAN7 | c.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 | |
X | g.38675774C>T | CA412982206 | TSPAN7 | c.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 | |
X | g.38675775C>A | CA328161070 | TSPAN7 | c.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 |
X | g.38675775C= | CA2424970045 | TSPAN7 | c.512C= (p.Pro171=) c.563C= (p.Pro188=) n.456C= c.602C= (p.Pro201=) c.*538C= (n.*538C=) c.*505C= (n.*505C=) n.695C= | |
X | g.38675775C>G | CA412982207 | TSPAN7 | c.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 |
X | g.38675775C>T | CA412982208 | TSPAN7 | c.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 |
X | g.38675776C>A | CA515685279 | TSPAN7 | c.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 | |
X | g.38675776C>G | CA515685282 | TSPAN7 | c.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 | |
X | g.38675776C>T | CA515685284 | TSPAN7 | c.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 |
X | g.38675777C>A | CA10386118 | TSPAN7 | c.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 |
X | g.38675777C= | CA2424970046 | TSPAN7 | c.514C= (p.Pro172=) c.565C= (p.Pro189=) n.458C= c.604C= (p.Pro202=) c.*540C= (n.*540C=) c.*507C= (n.*507C=) n.697C= | |
X | g.38675777C>G | CA10386119 | TSPAN7 | c.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 |
X | g.38675777C>T | CA10386117 | TSPAN7 | c.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 |
X | g.38675778C>A | CA121626 | TSPAN7 | c.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 |
X | g.38675778C= | CA2424970047 | TSPAN7 | c.515C= (p.Pro172=) c.566C= (p.Pro189=) n.459C= c.605C= (p.Pro202=) c.*541C= (n.*541C=) c.*508C= (n.*508C=) n.698C= | |
X | g.38675778C>G | CA10386120 | TSPAN7 | c.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 |
X | g.38675778C>T | CA412982209 | TSPAN7 | c.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 | |
X | g.38675779C>A | CA10386121 | TSPAN7 | c.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 |
X | g.38675779C= | CA2424970048 | TSPAN7 | c.516C= (p.Pro172=) c.567C= (p.Pro189=) n.460C= c.606C= (p.Pro202=) c.*542C= (n.*542C=) c.*509C= (n.*509C=) n.699C= | |
X | g.38675779C>G | CA515685293 | TSPAN7 | c.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 |
X | g.38675779C>T | CA10386122 | TSPAN7 | c.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 |
X | g.38675779_38675780insCAAACACACCCAACAC | CA2820495006 | TSPAN7 | c.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 | |
X | g.38675780A>C | CA412982210 | TSPAN7 | c.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 | |
X | g.38675780A>G | CA412982212 | TSPAN7 | c.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 | |
X | g.38675780A>T | CA412982211 | TSPAN7 | c.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 | |
X | g.38675781G>A | CA412982213 | TSPAN7 | c.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 |
X | g.38675781G>C | CA412982215 | TSPAN7 | c.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 | |
X | g.38675781G>T | CA412982214 | TSPAN7 | c.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 | |
X | g.38675782C>A | CA412982216 | TSPAN7 | c.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 | |
X | g.38675782C>G | CA412982217 | TSPAN7 | c.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 | |
X | g.38675782C>T | CA515685304 | TSPAN7 | c.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 | |
X | g.38675783T>A | CA412982218 | TSPAN7 | c.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 | |
X | g.38675783T>C | CA412982219 | TSPAN7 | c.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 | |
X | g.38675783T>G | CA412982220 | TSPAN7 | c.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 | |
X | g.38675784G>A | CA412982221 | TSPAN7 | c.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 | |
X | g.38675784G>C | CA412982222 | TSPAN7 | c.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 | |
X | g.38675784G>T | CA412982223 | TSPAN7 | c.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 | |
X | g.38675785C>A | CA412982224 | TSPAN7 | c.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 | |
X | g.38675785C>G | CA412982225 | TSPAN7 | c.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 | |
X | g.38675785C>T | CA515685316 | TSPAN7 | c.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 |
X | g.38675786T>A | CA412982228 | TSPAN7 | c.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 | |
X | g.38675786T>C | CA412982227 | TSPAN7 | c.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 | |
X | g.38675786T>G | CA412982226 | TSPAN7 | c.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 | |
X | g.38675787G>A | CA412982229 | TSPAN7 | c.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 |
X | g.38675787G>C | CA412982230 | TSPAN7 | c.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 | |
X | g.38675787G>T | CA412982231 | TSPAN7 | c.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 | |
X | g.38675787_38675788del | CA1132427435 | TSPAN7 | c.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 |
X | g.38675788C>A | CA412982232 | TSPAN7 | c.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 | |
X | g.38675788C>G | CA412982233 | TSPAN7 | c.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 | |
X | g.38675788C>T | CA515685326 | TSPAN7 | c.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 | |
X | g.38675788_38675789insTTTTTTTTTA | CA1132427439 | TSPAN7 | c.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 |
X | g.38675789A= | CA2424970049 | TSPAN7 | c.526A= (p.Met176=) c.577A= (p.Met193=) n.470A= c.616A= (p.Met206=) c.*552A= (n.*552A=) c.*519A= (n.*519A=) n.709A= | |
X | g.38675789A>C | CA412982234 | TSPAN7 | c.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 | |
X | g.38675789A>G | CA412982235 | TSPAN7 | c.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 |
X | g.38675789A>T | CA412982236 | TSPAN7 | c.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 | |
X | g.38675790T>A | CA412982237 | TSPAN7 | c.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 | |
X | g.38675790T>C | CA412982238 | TSPAN7 | c.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 | |
X | g.38675790T>G | CA412982239 | TSPAN7 | c.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 | |
X | g.38675790_38675791insTTTT | CA1132427442 | TSPAN7 | c.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 |
X | g.38675791_38675792insTTTG | CA2571143091 | TSPAN7 | c.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 | |
X | g.38675790_38675799delinsTGAACGAAAC | CA2424970050 | TSPAN7 | c.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 | |
X | g.38675791G>A | CA412982242 | TSPAN7 | c.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 | |
X | g.38675791G>C | CA412982241 | TSPAN7 | c.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 | |
X | g.38675791G>T | CA412982240 | TSPAN7 | c.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 |
X | g.38675791_38675799del | CA640919570 | TSPAN7 | c.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 |
X | g.38675792A>C | CA412982243 | TSPAN7 | c.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 | |
X | g.38675792A>G | CA412982244 | TSPAN7 | c.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 | |
X | g.38675792A>T | CA412982245 | TSPAN7 | c.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 | |
X | g.38675792_38675793insT | CA1132427447 | TSPAN7 | c.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 |
X | g.38675793A>C | CA412982246 | TSPAN7 | c.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 | |
X | g.38675793A>G | CA412982247 | TSPAN7 | c.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 | |
X | g.38675793A>T | CA412982248 | TSPAN7 | c.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 |
X | g.38675794C>A | CA412982249 | TSPAN7 | c.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 | |
X | g.38675794C= | CA2424970051 | TSPAN7 | c.531C= (p.Asn177=) c.582C= (p.Asn194=) n.475C= c.621C= (p.Asn207=) c.*557C= (n.*557C=) c.*524C= (n.*524C=) n.714C= | |
X | g.38675794C>G | CA412982250 | TSPAN7 | c.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 |
X | g.38675794C>T | CA10386123 | TSPAN7 | c.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 |
X | g.38675795G>A | CA328161081 | TSPAN7 | c.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 |
X | g.38675795G>C | CA412982251 | TSPAN7 | c.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 |
X | g.38675795G= | CA2424970052 | TSPAN7 | c.532G= (p.Glu178=) c.583G= (p.Glu195=) n.476G= c.622G= (p.Glu208=) c.*558G= (n.*558G=) c.*525G= (n.*525G=) n.715G= | |
X | g.38675795G>T | CA412982252 | TSPAN7 | c.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 | |
X | g.38675796A>C | CA412982255 | TSPAN7 | c.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 | |
X | g.38675796A>G | CA412982253 | TSPAN7 | c.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 | |
X | g.38675796A>T | CA412982254 | TSPAN7 | c.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 | |
X | g.38675797_38675798del | CA1132427457 | TSPAN7 | c.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 |
X | g.38675797A>C | CA412982256 | TSPAN7 | c.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 | |
X | g.38675797A>G | CA515685355 | TSPAN7 | c.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 | |
X | g.38675797A>T | CA412982257 | TSPAN7 | c.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 |
X | g.38675798A>C | CA412982258 | TSPAN7 | c.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 | |
X | g.38675798A>G | CA412982259 | TSPAN7 | c.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 |
X | g.38675798A>T | CA412982260 | TSPAN7 | c.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 |
X | g.38675799C>A | CA412982261 | TSPAN7 | c.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 | |
X | g.38675799C= | CA2424970053 | TSPAN7 | c.536C= (p.Thr179=) c.587C= (p.Thr196=) n.480C= c.626C= (p.Thr209=) c.*562C= (n.*562C=) c.*529C= (n.*529C=) n.719C= | |
X | g.38675799C>G | CA412982262 | TSPAN7 | c.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 | |
X | g.38675799C>T | CA412982263 | TSPAN7 | c.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 |
X | g.38675800del | CA1132427466 | TSPAN7 | c.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 |
X | g.38675800T>A | CA515685366 | TSPAN7 | c.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 | |
X | g.38675800T>C | CA515685367 | TSPAN7 | c.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 | |
X | g.38675800T>G | CA515685369 | TSPAN7 | c.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 |
X | g.38675800_38675802delinsTGA | CA2424970054 | TSPAN7 | c.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 | |
X | g.38675801G>A | CA412982264 | TSPAN7 | c.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 | |
X | g.38675801G>C | CA412982265 | TSPAN7 | c.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 | |
X | g.38675801G>T | CA412982266 | TSPAN7 | c.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 | |
X | g.38675801_38675802del | CA640919577 | TSPAN7 | c.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 |
X | g.38675802A>C | CA412982268 | TSPAN7 | c.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 | |
X | g.38675802A>G | CA412982269 | TSPAN7 | c.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 | |
X | g.38675802A>T | CA412982267 | TSPAN7 | c.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 | |
X | g.38675802_38675804del | CA1132427475 | TSPAN7 | c.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 |
X | g.38675802_38675810del | CA1132427478 | TSPAN7 | c.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 |
X | g.38675803T>A | CA412982271 | TSPAN7 | c.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 | |
X | g.38675803T>C | CA10386124 | TSPAN7 | c.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 |
X | g.38675803T>G | CA412982270 | TSPAN7 | c.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 | |
X | g.38675803T= | CA2424970055 | TSPAN7 | c.540T= (p.Asp180=) c.591T= (p.Asp197=) n.484T= c.630T= (p.Asp210=) c.*566T= (n.*566T=) c.*533T= (n.*533T=) n.723T= | |
X | g.38675803_38675811del | CA1132427484 | TSPAN7 | c.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 |
X | g.38675804T>A | CA412982272 | TSPAN7 | c.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 |
X | g.38675804T>C | CA412982273 | TSPAN7 | c.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 | |
X | g.38675804T>G | CA412982274 | TSPAN7 | c.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 |
X | g.38675804T= | CA2424970056 | TSPAN7 | c.541T= (p.Cys181=) c.592T= (p.Cys198=) n.485T= c.631T= (p.Cys211=) c.*567T= (n.*567T=) c.*534T= (n.*534T=) n.724T= | |
X | g.38675805G>A | CA412982275 | TSPAN7 | c.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 | |
X | g.38675805G>C | CA412982276 | TSPAN7 | c.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 |
X | g.38675805G= | CA2424970057 | TSPAN7 | c.542G= (p.Cys181=) c.593G= (p.Cys198=) n.486G= c.632G= (p.Cys211=) c.*568G= (n.*568G=) c.*535G= (n.*535G=) n.725G= | |
X | g.38675805G>T | CA412982277 | TSPAN7 | c.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 |
X | g.38675806T>A | CA412982278 | TSPAN7 | c.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 | |
X | g.38675806T>C | CA515685390 | TSPAN7 | c.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 |
X | g.38675806T>G | CA412982279 | TSPAN7 | c.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 | |
X | g.38675807A= | CA2424970058 | TSPAN7 | c.544A= (p.Asn182=) c.595A= (p.Asn199=) n.488A= c.634A= (p.Asn212=) c.*570A= (n.*570A=) c.*537A= (n.*537A=) n.727A= | |
X | g.38675807A>C | CA412982280 | TSPAN7 | c.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 | |
X | g.38675807A>G | CA412982281 | TSPAN7 | c.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 |
X | g.38675807A>T | CA412982282 | TSPAN7 | c.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 |
X | g.38675808A= | CA2424970059 | TSPAN7 | c.545A= (p.Asn182=) c.596A= (p.Asn199=) n.489A= c.635A= (p.Asn212=) c.*571A= (n.*571A=) c.*538A= (n.*538A=) n.728A= | |
X | g.38675808A>C | CA412982285 | TSPAN7 | c.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 | |
X | g.38675808A>G | CA412982283 | TSPAN7 | c.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 |
X | g.38675808A>T | CA412982284 | TSPAN7 | c.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 | |
X | g.38675809T>A | CA412982286 | TSPAN7 | c.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 | |
X | g.38675809T>C | CA515685402 | TSPAN7 | c.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 |
X | g.38675809T>G | CA412982287 | TSPAN7 | c.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 | |
X | g.38675809T= | CA2424970060 | TSPAN7 | c.546T= (p.Asn182=) c.597T= (p.Asn199=) n.490T= c.636T= (p.Asn212=) c.*572T= (n.*572T=) c.*539T= (n.*539T=) n.729T= | |
X | g.38675809_38675810insGAGACGGCGA | CA2515264133 | TSPAN7 | c.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 | |
X | g.38675809_38675810insGATACGGCGA | CA640919586 | TSPAN7 | c.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 |
X | g.38675809_38675810insGTTACGGCGA | CA1132427495 | TSPAN7 | c.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 |
X | g.38675810C>A | CA412982288 | TSPAN7 | c.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 | |
X | g.38675810C>G | CA412982289 | TSPAN7 | c.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 | |
X | g.38675810C>T | CA412982290 | TSPAN7 | c.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 | |
X | g.38675810_38675811insTTA | CA2540522316 | TSPAN7 | c.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 | |
X | g.38675811C>A | CA412982291 | TSPAN7 | c.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 |
X | g.38675811C= | CA2424970061 | TSPAN7 | c.548C= (p.Pro183=) c.599C= (p.Pro200=) n.492C= c.638C= (p.Pro213=) c.*574C= (n.*574C=) c.*541C= (n.*541C=) n.731C= | |
X | g.38675811C>G | CA412982292 | TSPAN7 | c.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 | |
X | g.38675811C>T | CA10386125 | TSPAN7 | c.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 |
X | g.38675811_38675812insA | CA640919589 | TSPAN7 | c.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 |
X | g.38675811_38675812insGA | CA1132427503 | TSPAN7 | c.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 |
X | g.38675812C>A | CA515685416 | TSPAN7 | c.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 | |
X | g.38675812C>G | CA515685414 | TSPAN7 | c.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 | |
X | g.38675812C>T | CA515685412 | TSPAN7 | c.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 |
X | g.38675813C>A | CA412982293 | TSPAN7 | c.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 | |
X | g.38675813C>G | CA412982294 | TSPAN7 | c.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 | |
X | g.38675813C>T | CA412982295 | TSPAN7 | c.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 | |
X | g.38675814A= | CA2424970062 | TSPAN7 | c.551A= (p.Gln184=) c.602A= (p.Gln201=) n.495A= c.641A= (p.Gln214=) c.*577A= (n.*577A=) c.*544A= (n.*544A=) n.734A= | |
X | g.38675814A>C | CA328161086 | TSPAN7 | c.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 |
X | g.38675814A>G | CA412982297 | TSPAN7 | c.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 |
X | g.38675814A>T | CA412982296 | TSPAN7 | c.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 |
X | g.38675814_38675815insCC | CA1132427510 | TSPAN7 | c.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 |
X | g.38675815G>A | CA515685427 | TSPAN7 | c.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 |
X | g.38675815G>C | CA412982298 | TSPAN7 | c.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 |
X | g.38675815G= | CA2424970063 | TSPAN7 | c.552G= (p.Gln184=) c.603G= (p.Gln201=) n.496G= c.642G= (p.Gln214=) c.*578G= (n.*578G=) c.*545G= (n.*545G=) n.735G= | |
X | g.38675815G>T | CA412982299 | TSPAN7 | c.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 |
X | g.38675815_38675816insA | CA1132427515 | TSPAN7 | c.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 |
X | g.38675816G>A | CA412982300 | TSPAN7 | c.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 |
X | g.38675816G>C | CA412982301 | TSPAN7 | c.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 | |
X | g.38675816G>T | CA412982302 | TSPAN7 | c.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 |
X | g.38675817A= | CA2424970064 | TSPAN7 | c.554A= (p.Asp185=) c.605A= (p.Asp202=) n.498A= c.644A= (p.Asp215=) c.*580A= (n.*580A=) c.*547A= (n.*547A=) | |
X | g.38675817A>C | CA412982303 | TSPAN7 | c.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) | |
X | g.38675817A>G | CA412982304 | TSPAN7 | c.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) | |
X | g.38675817A>T | CA10386126 | TSPAN7 | c.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 |
X | g.38675818T>A | CA412982305 | TSPAN7 | c.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 |
X | g.38675818T>C | CA515685439 | TSPAN7 | c.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) | |
X | g.38675818T>G | CA412982306 | TSPAN7 | c.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) | |
X | g.38675819C>A | CA412982307 | TSPAN7 | c.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 |
X | g.38675819C= | CA2424970065 | TSPAN7 | c.556C= (p.Leu186=) c.607C= (p.Leu203=) n.500C= c.646C= (p.Leu216=) c.*582C= (n.*582C=) c.*549C= (n.*549C=) | |
X | g.38675819C>G | CA412982308 | TSPAN7 | c.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) | |
X | g.38675819C>T | CA515685442 | TSPAN7 | c.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) | |
X | g.38675820T>A | CA412982310 | TSPAN7 | c.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) | |
X | g.38675820T>C | CA412982311 | TSPAN7 | c.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) | |
X | g.38675820T>G | CA412982309 | TSPAN7 | c.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) | |
X | g.38675821A>C | CA515685447 | TSPAN7 | c.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) | |
X | g.38675821A>G | CA515685449 | TSPAN7 | c.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) | |
X | g.38675821A>T | CA515685451 | TSPAN7 | c.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) | |
X | g.38675822C>A | CA412982312 | TSPAN7 | c.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 |
X | g.38675822C= | CA2424970066 | TSPAN7 | c.559C= (p.His187=) c.610C= (p.His204=) n.503C= c.649C= (p.His217=) c.*585C= (n.*585C=) c.*552C= (n.*552C=) | |
X | g.38675822C>G | CA412982313 | TSPAN7 | c.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) | |
X | g.38675822C>T | CA10386127 | TSPAN7 | c.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 |
X | g.38675823A>C | CA412982314 | TSPAN7 | c.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) | |
X | g.38675823A>G | CA412982315 | TSPAN7 | c.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) | |
X | g.38675823A>T | CA412982316 | TSPAN7 | c.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) | |
X | g.38675824C>A | CA412982317 | TSPAN7 | c.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) | |
X | g.38675824C>G | CA412982318 | TSPAN7 | c.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) | |
X | g.38675824C>T | CA515685463 | TSPAN7 | c.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) | |
X | g.38675825A>C | CA412982319 | TSPAN7 | c.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) | |
X | g.38675825A>G | CA412982320 | TSPAN7 | c.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) | |
X | g.38675825A>T | CA412982321 | TSPAN7 | c.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) | |
X | g.38675826A>C | CA412982322 | TSPAN7 | c.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) | |
X | g.38675826A>G | CA412982323 | TSPAN7 | c.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) | |
X | g.38675826A>T | CA412982324 | TSPAN7 | c.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) | |
X | g.38675827T>A | CA412982326 | TSPAN7 | c.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) | |
X | g.38675827T>C | CA515685473 | TSPAN7 | c.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) | |
X | g.38675827T>G | CA412982325 | TSPAN7 | c.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) | |
X | g.38675828C>A | CA412982327 | TSPAN7 | c.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) | |
X | g.38675828C>G | CA412982328 | TSPAN7 | c.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 |
X | g.38675828C>T | CA515685478 | TSPAN7 | c.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) | |
X | g.38675831_38675834del | CA2579585171 | TSPAN7 | c.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) | |
X | g.38675829T>A | CA412982329 | TSPAN7 | c.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) | |
X | g.38675829T>C | CA412982330 | TSPAN7 | c.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) | |
X | g.38675829T>G | CA412982331 | TSPAN7 | c.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) | |
X | g.38675830G>A | CA515685484 | TSPAN7 | c.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) | |
X | g.38675830G>C | CA515685486 | TSPAN7 | c.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) | |
X | g.38675830G>T | CA515685488 | TSPAN7 | c.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) | |
X | g.38675831A>C | CA412982332 | TSPAN7 | c.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) | |
X | g.38675831A>G | CA412982333 | TSPAN7 | c.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) | |
X | g.38675831A>T | CA412982334 | TSPAN7 | c.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) | |
X | g.38675832C>A | CA412982335 | TSPAN7 | c.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) | |
X | g.38675832C>G | CA412982337 | TSPAN7 | c.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) | |
X | g.38675832C>T | CA412982336 | TSPAN7 | c.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) | |
X | g.38675833T>A | CA10386128 | TSPAN7 | c.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 |
X | g.38675833T>C | CA515685498 | TSPAN7 | c.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) | |
X | g.38675833T>G | CA515685500 | TSPAN7 | c.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) | |
X | g.38675833T= | CA2424970067 | TSPAN7 | c.570T= (p.Thr190=) c.621T= (p.Thr207=) n.514T= c.660T= (p.Thr220=) c.*596T= (n.*596T=) c.*563T= (n.*563T=) | |
X | g.38675835_38675836del | CA2580616987 | TSPAN7 | c.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 |
X | g.38675834G>A | CA412982338 | TSPAN7 | c.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) | |
X | g.38675834G>C | CA412982339 | TSPAN7 | c.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) | |
X | g.38675834G>T | CA412982340 | TSPAN7 | c.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) | |
X | g.38675835T>A | CA412982343 | TSPAN7 | c.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) | |
X | g.38675835T>C | CA412982341 | TSPAN7 | c.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) | |
X | g.38675835T>G | CA412982342 | TSPAN7 | c.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 |
X | g.38675836G>A | CA515685509 | TSPAN7 | c.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) | |
X | g.38675836G>C | CA515685511 | TSPAN7 | c.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) | |
X | g.38675836G>T | CA515685513 | TSPAN7 | c.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) | |
X | g.38675837G>A | CA412982344 | TSPAN7 | c.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) | |
X | g.38675837G>C | CA412982345 | TSPAN7 | c.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 |
X | g.38675837G>T | CA412982346 | TSPAN7 | c.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) | |
X | g.38675838C>A | CA412982347 | TSPAN7 | c.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 |
X | g.38675838C>G | CA412982348 | TSPAN7 | c.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) | |
X | g.38675838C>T | CA412982349 | TSPAN7 | c.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) | |
X | g.38675839C>A | CA515685524 | TSPAN7 | c.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 |
X | g.38675839C= | CA2424970068 | TSPAN7 | c.576C= (p.Ala192=) c.627C= (p.Ala209=) n.520C= c.666C= (p.Ala222=) c.*602C= (n.*602C=) c.*569C= (n.*569C=) | |
X | g.38675839C>G | CA515685522 | TSPAN7 | c.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) | |
X | g.38675839C>T | CA10386129 | TSPAN7 | c.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 |
X | g.38675840G>A | CA10386130 | TSPAN7 | c.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 |
X | g.38675840G>C | CA412982350 | TSPAN7 | c.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) | |
X | g.38675840G= | CA2424970069 | TSPAN7 | c.577G= (p.Ala193=) c.628G= (p.Ala210=) n.521G= c.667G= (p.Ala223=) c.*603G= (n.*603G=) c.*570G= (n.*570G=) | |
X | g.38675840G>T | CA412982351 | TSPAN7 | c.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 |
X | g.38675841C>A | CA412982352 | TSPAN7 | c.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) | |
X | g.38675841C>G | CA412982353 | TSPAN7 | c.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) | |
X | g.38675841C>T | CA412982354 | TSPAN7 | c.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) | |
X | g.38675842C>A | CA515685528 | TSPAN7 | c.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) | |
X | g.38675842C= | CA2424970070 | TSPAN7 | c.579C= (p.Ala193=) c.630C= (p.Ala210=) n.523C= c.669C= (p.Ala223=) c.*605C= (n.*605C=) c.*572C= (n.*572C=) | |
X | g.38675842C>G | CA515685529 | TSPAN7 | c.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) | |
X | g.38675842C>T | CA515685530 | TSPAN7 | c.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 |
X | g.38675843A>C | CA412982355 | TSPAN7 | c.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) | |
X | g.38675843A>G | CA412982357 | TSPAN7 | c.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) | |
X | g.38675843A>T | CA412982356 | TSPAN7 | c.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) | |
X | g.38675844C>A | CA412982358 | TSPAN7 | c.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) | |
X | g.38675844C>G | CA412982359 | TSPAN7 | c.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) | |
X | g.38675844C>T | CA412982360 | TSPAN7 | c.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) | |
X | g.38675845C>A | CA515685531 | TSPAN7 | c.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) | |
X | g.38675845C>G | CA515685533 | TSPAN7 | c.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) | |
X | g.38675845C>T | CA515685532 | TSPAN7 | c.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) | |
X | g.38675846A>C | CA412982361 | TSPAN7 | c.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) | |
X | g.38675846A>G | CA412982362 | TSPAN7 | c.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) | |
X | g.38675846A>T | CA412982363 | TSPAN7 | c.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) | |
X | g.38675847A>C | CA412982366 | TSPAN7 | c.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) | |
X | g.38675847A>G | CA412982364 | TSPAN7 | c.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 |
X | g.38675847A>T | CA412982365 | TSPAN7 | c.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) | |
X | g.38675848A>C | CA412982367 | TSPAN7 | c.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) | |
X | g.38675848A>G | CA515685534 | TSPAN7 | c.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) | |
X | g.38675848A>T | CA412982368 | TSPAN7 | c.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) | |
X | g.38675849G>A | CA412982369 | TSPAN7 | c.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) | |
X | g.38675849G>C | CA412982370 | TSPAN7 | c.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) | |
X | g.38675849G>T | CA412982371 | TSPAN7 | c.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) | |
X | g.38675850T>A | CA412982372 | TSPAN7 | c.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) | |
X | g.38675850T>C | CA412982374 | TSPAN7 | c.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) | |
X | g.38675850T>G | CA412982373 | TSPAN7 | c.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) | |
X | g.38675851T>A | CA515685535 | TSPAN7 | c.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) | |
X | g.38675851T>C | CA515685536 | TSPAN7 | c.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 |
X | g.38675851T>G | CA515685537 | TSPAN7 | c.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) | |
X | g.38675851T= | CA2424970071 | TSPAN7 | c.588T= (p.Val196=) c.639T= (p.Val213=) n.532T= c.678T= (p.Val226=) c.*614T= (n.*614T=) c.*581T= (n.*581T=) | |
X | g.38675852A>C | CA412982375 | TSPAN7 | c.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) | |
X | g.38675852A>G | CA412982376 | TSPAN7 | c.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) | |
X | g.38675852A>T | CA412982377 | TSPAN7 | c.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) | |
X | g.38675853A>C | CA412982378 | TSPAN7 | c.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 |
X | g.38675853A>G | CA412982379 | TSPAN7 | c.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 |
X | g.38675853A>T | CA412982380 | TSPAN7 | c.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) | |
X | g.38675854C>A | CA412982381 | TSPAN7 | c.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 |
X | g.38675854C= | CA2424970072 | TSPAN7 | c.591C= (p.Asn197=) c.642C= (p.Asn214=) n.535C= c.681C= (p.Asn227=) c.*617C= (n.*617C=) c.*584C= (n.*584C=) | |
X | g.38675854C>G | CA412982382 | TSPAN7 | c.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) | |
X | g.38675854C>T | CA515685538 | TSPAN7 | c.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) | |
X | g.38675855C>A | CA412982383 | TSPAN7 | c.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) | |
X | g.38675855C>G | CA412982384 | TSPAN7 | c.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) | |
X | g.38675855C>T | CA412982385 | TSPAN7 | c.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 |
X | g.38675856A>C | CA412982386 | TSPAN7 | c.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) | |
X | g.38675856A>G | CA412982388 | TSPAN7 | c.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) | |
X | g.38675856A>T | CA412982387 | TSPAN7 | c.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) | |
X | g.38675857G>A | CA515685539 | TSPAN7 | c.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) | |
X | g.38675857G>C | CA412982389 | TSPAN7 | c.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) | |
X | g.38675857G>T | CA412982390 | TSPAN7 | c.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) | |
X | g.38675858A>C | CA412982391 | TSPAN7 | c.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) | |
X | g.38675858A>G | CA412982392 | TSPAN7 | c.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 |
X | g.38675858A>T | CA412982393 | TSPAN7 | c.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) | |
X | g.38675859A>C | CA412982394 | TSPAN7 | c.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) | |
X | g.38675859A>G | CA412982395 | TSPAN7 | c.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) | |
X | g.38675859A>T | CA412982396 | TSPAN7 | c.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) | |
X | g.38675860G>A | CA515685540 | TSPAN7 | c.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) | |
X | g.38675860G>C | CA412982397 | TSPAN7 | c.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) | |
X | g.38675860G>T | CA412982398 | TSPAN7 | c.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) | |
X | g.38675861G>A | CA412982399 | TSPAN7 | c.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) | |
X | g.38675861G>C | CA412982400 | TSPAN7 | c.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) | |
X | g.38675861G>T | CA412982401 | TSPAN7 | c.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) | |
X | g.38675862T>A | CA412982404 | TSPAN7 | c.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) | |
X | g.38675862T>C | CA412982403 | TSPAN7 | c.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) | |
X | g.38675862T>G | CA412982402 | TSPAN7 | c.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) |