Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.130458489T>A | CA375225168 | ASS1 | c.263T>A (p.Leu88His) c.377T>A (p.Leu126His) c.359T>A (p.Leu120His) | |
9 | g.130458489T>C | CA375225169 | ASS1 | c.263T>C (p.Leu88Pro) c.377T>C (p.Leu126Pro) c.359T>C (p.Leu120Pro) | gnomAD v4 |
9 | g.130458489T>G | CA375225167 | ASS1 | c.263T>G (p.Leu88Arg) c.377T>G (p.Leu126Arg) c.359T>G (p.Leu120Arg) | |
9 | g.130458490C>A | CA467388512 | ASS1 | c.264C>A (p.Leu88=) c.378C>A (p.Leu126=) c.360C>A (p.Leu120=) | |
9 | g.130458490C= | CA1881249972 | ASS1 | c.264C= (p.Leu88=) c.378C= (p.Leu126=) c.360C= (p.Leu120=) | |
9 | g.130458490C>G | CA467388511 | ASS1 | c.264C>G (p.Leu88=) c.378C>G (p.Leu126=) c.360C>G (p.Leu120=) | |
9 | g.130458490C>T | CA467388510 | ASS1 | c.264C>T (p.Leu88=) c.378C>T (p.Leu126=) c.360C>T (p.Leu120=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458491C>A | CA375225170 | ASS1 | c.265C>A (p.Leu89Met) c.379C>A (p.Leu127Met) c.361C>A (p.Leu121Met) | |
9 | g.130458491C= | CA1881249973 | ASS1 | c.265C= (p.Leu89=) c.379C= (p.Leu127=) c.361C= (p.Leu121=) | |
9 | g.130458491C>G | CA375225171 | ASS1 | c.265C>G (p.Leu89Val) c.379C>G (p.Leu127Val) c.361C>G (p.Leu121Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458491C>T | CA467388513 | ASS1 | c.265C>T (p.Leu89=) c.379C>T (p.Leu127=) c.361C>T (p.Leu121=) | |
9 | g.130458492T>A | CA375225172 | ASS1 | c.266T>A (p.Leu89Gln) c.380T>A (p.Leu127Gln) c.362T>A (p.Leu121Gln) | |
9 | g.130458492T>C | CA375225173 | ASS1 | c.266T>C (p.Leu89Pro) c.380T>C (p.Leu127Pro) c.362T>C (p.Leu121Pro) | |
9 | g.130458492T>G | CA375225174 | ASS1 | c.266T>G (p.Leu89Arg) c.380T>G (p.Leu127Arg) c.362T>G (p.Leu121Arg) | |
9 | g.130458493G>A | CA467388514 | ASS1 | c.267G>A (p.Leu89=) c.381G>A (p.Leu127=) c.363G>A (p.Leu121=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130458493G>C | CA467388515 | ASS1 | c.267G>C (p.Leu89=) c.381G>C (p.Leu127=) c.363G>C (p.Leu121=) | ClinVar gnomAD v4 |
9 | g.130458493G= | CA1881249974 | ASS1 | c.267G= (p.Leu89=) c.381G= (p.Leu127=) c.363G= (p.Leu121=) | |
9 | g.130458493G>T | CA467388516 | ASS1 | c.267G>T (p.Leu89=) c.381G>T (p.Leu127=) c.363G>T (p.Leu121=) | |
9 | g.130458494G>A | CA375225177 | ASS1 | c.268G>A (p.Gly90Ser) c.382G>A (p.Gly128Ser) c.364G>A (p.Gly122Ser) | |
9 | g.130458494G>C | CA375225176 | ASS1 | c.268G>C (p.Gly90Arg) c.382G>C (p.Gly128Arg) c.364G>C (p.Gly122Arg) | |
9 | g.130458494G>T | CA375225175 | ASS1 | c.268G>T (p.Gly90Cys) c.382G>T (p.Gly128Cys) c.364G>T (p.Gly122Cys) | |
9 | g.130458495G>A | CA375225178 | ASS1 | c.269G>A (p.Gly90Asp) c.383G>A (p.Gly128Asp) c.365G>A (p.Gly122Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458495G>C | CA375225179 | ASS1 | c.269G>C (p.Gly90Ala) c.383G>C (p.Gly128Ala) c.365G>C (p.Gly122Ala) | |
9 | g.130458495G= | CA1881249975 | ASS1 | c.269G= (p.Gly90=) c.383G= (p.Gly128=) c.365G= (p.Gly122=) | |
9 | g.130458495G>T | CA375225180 | ASS1 | c.269G>T (p.Gly90Val) c.383G>T (p.Gly128Val) c.365G>T (p.Gly122Val) | |
9 | g.130458496C>A | CA467388517 | ASS1 | c.270C>A (p.Gly90=) c.384C>A (p.Gly128=) c.366C>A (p.Gly122=) | |
9 | g.130458496C= | CA1881249976 | ASS1 | c.270C= (p.Gly90=) c.384C= (p.Gly128=) c.366C= (p.Gly122=) | |
9 | g.130458496C>G | CA467388518 | ASS1 | c.270C>G (p.Gly90=) c.384C>G (p.Gly128=) c.366C>G (p.Gly122=) | |
9 | g.130458496C>T | CA467388519 | ASS1 | c.270C>T (p.Gly90=) c.384C>T (p.Gly128=) c.366C>T (p.Gly122=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458497A= | CA1881249977 | ASS1 | c.271A= (p.Thr91=) c.385A= (p.Thr129=) c.367A= (p.Thr123=) | |
9 | g.130458497A>C | CA5283213 | ASS1 | c.271A>C (p.Thr91Pro) c.385A>C (p.Thr129Pro) c.367A>C (p.Thr123Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458497A>G | CA375225181 | ASS1 | c.271A>G (p.Thr91Ala) c.385A>G (p.Thr129Ala) c.367A>G (p.Thr123Ala) | |
9 | g.130458497A>T | CA375225182 | ASS1 | c.271A>T (p.Thr91Ser) c.385A>T (p.Thr129Ser) c.367A>T (p.Thr123Ser) | |
9 | g.130458498C>A | CA375225183 | ASS1 | c.272C>A (p.Thr91Asn) c.386C>A (p.Thr129Asn) c.368C>A (p.Thr123Asn) | |
9 | g.130458498C>G | CA375225185 | ASS1 | c.272C>G (p.Thr91Ser) c.386C>G (p.Thr129Ser) c.368C>G (p.Thr123Ser) | |
9 | g.130458498C>T | CA375225184 | ASS1 | c.272C>T (p.Thr91Ile) c.386C>T (p.Thr129Ile) c.368C>T (p.Thr123Ile) | |
9 | g.130458499C>A | CA467388520 | ASS1 | c.273C>A (p.Thr91=) c.387C>A (p.Thr129=) c.369C>A (p.Thr123=) | |
9 | g.130458499C>G | CA467388521 | ASS1 | c.273C>G (p.Thr91=) c.387C>G (p.Thr129=) c.369C>G (p.Thr123=) | ClinVar |
9 | g.130458499C>T | CA467388522 | ASS1 | c.273C>T (p.Thr91=) c.387C>T (p.Thr129=) c.369C>T (p.Thr123=) | |
9 | g.130458503_130458504del | CA2528095414 | ASS1 | c.277_278del (p.Leu93CysfsTer?) c.391_392del (p.Leu131CysfsTer?) c.373_374del (p.Leu125CysfsTer?) | |
9 | g.130458500T>A | CA375225186 | ASS1 | c.274T>A (p.Ser92Thr) c.388T>A (p.Ser130Thr) c.370T>A (p.Ser124Thr) | |
9 | g.130458500T>C | CA375225187 | ASS1 | c.274T>C (p.Ser92Pro) c.388T>C (p.Ser130Pro) c.370T>C (p.Ser124Pro) | |
9 | g.130458500T>G | CA375225188 | ASS1 | c.274T>G (p.Ser92Ala) c.388T>G (p.Ser130Ala) c.370T>G (p.Ser124Ala) | |
9 | g.130458501C>A | CA375225189 | ASS1 | c.275C>A (p.Ser92Tyr) c.389C>A (p.Ser130Tyr) c.371C>A (p.Ser124Tyr) | |
9 | g.130458501C= | CA1881249978 | ASS1 | c.275C= (p.Ser92=) c.389C= (p.Ser130=) c.371C= (p.Ser124=) | |
9 | g.130458501C>G | CA375225190 | ASS1 | c.275C>G (p.Ser92Cys) c.389C>G (p.Ser130Cys) c.371C>G (p.Ser124Cys) | |
9 | g.130458501C>T | CA5283214 | ASS1 | c.275C>T (p.Ser92Phe) c.389C>T (p.Ser130Phe) c.371C>T (p.Ser124Phe) | dbSNP ExAC gnomAD v2 |
9 | g.130458502T>A | CA467388523 | ASS1 | c.276T>A (p.Ser92=) c.390T>A (p.Ser130=) c.372T>A (p.Ser124=) | |
9 | g.130458502T>C | CA467388524 | ASS1 | c.276T>C (p.Ser92=) c.390T>C (p.Ser130=) c.372T>C (p.Ser124=) | |
9 | g.130458502T>G | CA467388525 | ASS1 | c.276T>G (p.Ser92=) c.390T>G (p.Ser130=) c.372T>G (p.Ser124=) | |
9 | g.130458503C>A | CA375225191 | ASS1 | c.277C>A (p.Leu93Ile) c.391C>A (p.Leu131Ile) c.373C>A (p.Leu125Ile) | |
9 | g.130458503C>G | CA375225192 | ASS1 | c.277C>G (p.Leu93Val) c.391C>G (p.Leu131Val) c.373C>G (p.Leu125Val) | |
9 | g.130458503C>T | CA375225193 | ASS1 | c.277C>T (p.Leu93Phe) c.391C>T (p.Leu131Phe) c.373C>T (p.Leu125Phe) | |
9 | g.130458504T>A | CA375225194 | ASS1 | c.278T>A (p.Leu93His) c.392T>A (p.Leu131His) c.374T>A (p.Leu125His) | |
9 | g.130458504T>C | CA375225195 | ASS1 | c.278T>C (p.Leu93Pro) c.392T>C (p.Leu131Pro) c.374T>C (p.Leu125Pro) | |
9 | g.130458504T>G | CA375225196 | ASS1 | c.278T>G (p.Leu93Arg) c.392T>G (p.Leu131Arg) c.374T>G (p.Leu125Arg) | |
9 | g.130458505T>A | CA467388526 | ASS1 | c.279T>A (p.Leu93=) c.393T>A (p.Leu131=) c.375T>A (p.Leu125=) | |
9 | g.130458505T>C | CA200608053 | ASS1 | c.279T>C (p.Leu93=) c.393T>C (p.Leu131=) c.375T>C (p.Leu125=) | dbSNP gnomAD v4 |
9 | g.130458505T>G | CA467388527 | ASS1 | c.279T>G (p.Leu93=) c.393T>G (p.Leu131=) c.375T>G (p.Leu125=) | |
9 | g.130458505T= | CA1881249979 | ASS1 | c.279T= (p.Leu93=) c.393T= (p.Leu131=) c.375T= (p.Leu125=) | |
9 | g.130458506G>A | CA375225198 | ASS1 | c.280G>A (p.Ala94Thr) c.394G>A (p.Ala132Thr) c.376G>A (p.Ala126Thr) | |
9 | g.130458506G>C | CA375225197 | ASS1 | c.280G>C (p.Ala94Pro) c.394G>C (p.Ala132Pro) c.376G>C (p.Ala126Pro) | |
9 | g.130458506G>T | CA375225199 | ASS1 | c.280G>T (p.Ala94Ser) c.394G>T (p.Ala132Ser) c.376G>T (p.Ala126Ser) | gnomAD v4 |
9 | g.130458507C>A | CA375225200 | ASS1 | c.281C>A (p.Ala94Asp) c.395C>A (p.Ala132Asp) c.377C>A (p.Ala126Asp) | dbSNP |
9 | g.130458507C= | CA1881249980 | ASS1 | c.281C= (p.Ala94=) c.395C= (p.Ala132=) c.377C= (p.Ala126=) | |
9 | g.130458507C>G | CA375225202 | ASS1 | c.281C>G (p.Ala94Gly) c.395C>G (p.Ala132Gly) c.377C>G (p.Ala126Gly) | |
9 | g.130458507C>T | CA375225201 | ASS1 | c.281C>T (p.Ala94Val) c.395C>T (p.Ala132Val) c.377C>T (p.Ala126Val) | gnomAD v4 |
9 | g.130458508C>A | CA467388528 | ASS1 | c.282C>A (p.Ala94=) c.396C>A (p.Ala132=) c.378C>A (p.Ala126=) | |
9 | g.130458508C>G | CA467388529 | ASS1 | c.282C>G (p.Ala94=) c.396C>G (p.Ala132=) c.378C>G (p.Ala126=) | |
9 | g.130458508C>T | CA467388531 | ASS1 | c.282C>T (p.Ala94=) c.396C>T (p.Ala132=) c.378C>T (p.Ala126=) | |
9 | g.130458509A= | CA1881249982 | ASS1 | c.283A= (p.Arg95=) c.397A= (p.Arg133=) c.379A= (p.Arg127=) | |
9 | g.130458509A>C | CA467388534 | ASS1 | c.283A>C (p.Arg95=) c.397A>C (p.Arg133=) c.379A>C (p.Arg127=) | dbSNP gnomAD v4 |
9 | g.130458509A>G | CA375225203 | ASS1 | c.283A>G (p.Arg95Gly) c.397A>G (p.Arg133Gly) c.379A>G (p.Arg127Gly) | |
9 | g.130458509A>T | CA375225204 | ASS1 | c.283A>T (p.Arg95Trp) c.397A>T (p.Arg133Trp) c.379A>T (p.Arg127Trp) | |
9 | g.130458509_130458510delinsAG | CA1881249981 | ASS1 | c.283_284delinsAG (p.Arg95=) c.397_398delinsAG (p.Arg133=) c.379_380delinsAG (p.Arg127=) | |
9 | g.130458510G>A | CA375225205 | ASS1 | c.284G>A (p.Arg95Lys) c.398G>A (p.Arg133Lys) c.380G>A (p.Arg127Lys) | |
9 | g.130458510G>C | CA375225206 | ASS1 | c.284G>C (p.Arg95Thr) c.398G>C (p.Arg133Thr) c.380G>C (p.Arg127Thr) | |
9 | g.130458510G>T | CA375225207 | ASS1 | c.284G>T (p.Arg95Met) c.398G>T (p.Arg133Met) c.380G>T (p.Arg127Met) | |
9 | g.130458511del | CA590945147 | ASS1 | c.285del (p.Arg95SerfsTer?) c.399del (p.Arg133SerfsTer?) c.381del (p.Arg127SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458511G>A | CA467388539 | ASS1 | c.285G>A (p.Arg95=) c.399G>A (p.Arg133=) c.381G>A (p.Arg127=) | |
9 | g.130458511G>C | CA375225208 | ASS1 | c.285G>C (p.Arg95Ser) c.399G>C (p.Arg133Ser) c.381G>C (p.Arg127Ser) | |
9 | g.130458511G>T | CA375225209 | ASS1 | c.285G>T (p.Arg95Ser) c.399G>T (p.Arg133Ser) c.381G>T (p.Arg127Ser) | |
9 | g.130458511_130458512delinsTT | CA2580079803 | ASS1 | c.285_286delinsTT (p.Arg95_Pro96delinsSerSer) c.399_400delinsTT (p.Arg133_Pro134delinsSerSer) c.381_382delinsTT (p.Arg127_Pro128delinsSerSer) | ClinVar |
9 | g.130458512C>A | CA375225210 | ASS1 | c.286C>A (p.Pro96Thr) c.400C>A (p.Pro134Thr) c.382C>A (p.Pro128Thr) | ClinVar dbSNP gnomAD v4 |
9 | g.130458512C>G | CA375225211 | ASS1 | c.286C>G (p.Pro96Ala) c.400C>G (p.Pro134Ala) c.382C>G (p.Pro128Ala) | |
9 | g.130458512C>T | CA375225212 | ASS1 | c.286C>T (p.Pro96Ser) c.400C>T (p.Pro134Ser) c.382C>T (p.Pro128Ser) | |
9 | g.130458513C>A | CA375225213 | ASS1 | c.287C>A (p.Pro96His) c.401C>A (p.Pro134His) c.383C>A (p.Pro128His) | gnomAD v4 |
9 | g.130458513C>G | CA375225214 | ASS1 | c.287C>G (p.Pro96Arg) c.401C>G (p.Pro134Arg) c.383C>G (p.Pro128Arg) | |
9 | g.130458513C>T | CA375225215 | ASS1 | c.287C>T (p.Pro96Leu) c.401C>T (p.Pro134Leu) c.383C>T (p.Pro128Leu) | |
9 | g.130458514C>A | CA467388545 | ASS1 | c.288C>A (p.Pro96=) c.402C>A (p.Pro134=) c.384C>A (p.Pro128=) | dbSNP |
9 | g.130458514C= | CA1881249983 | ASS1 | c.288C= (p.Pro96=) c.402C= (p.Pro134=) c.384C= (p.Pro128=) | |
9 | g.130458514C>G | CA467388546 | ASS1 | c.288C>G (p.Pro96=) c.402C>G (p.Pro134=) c.384C>G (p.Pro128=) | |
9 | g.130458514C>T | CA200608057 | ASS1 | c.288C>T (p.Pro96=) c.402C>T (p.Pro134=) c.384C>T (p.Pro128=) | dbSNP |
9 | g.130458515T>A | CA375225216 | ASS1 | c.289T>A (p.Cys97Ser) c.403T>A (p.Cys135Ser) c.385T>A (p.Cys129Ser) | |
9 | g.130458515T>C | CA375225217 | ASS1 | c.289T>C (p.Cys97Arg) c.403T>C (p.Cys135Arg) c.385T>C (p.Cys129Arg) | |
9 | g.130458515T>G | CA375225218 | ASS1 | c.289T>G (p.Cys97Gly) c.403T>G (p.Cys135Gly) c.385T>G (p.Cys129Gly) | |
9 | g.130458516G>A | CA375225219 | ASS1 | c.290G>A (p.Cys97Tyr) c.404G>A (p.Cys135Tyr) c.386G>A (p.Cys129Tyr) | dbSNP |
9 | g.130458516G>C | CA375225220 | ASS1 | c.290G>C (p.Cys97Ser) c.404G>C (p.Cys135Ser) c.386G>C (p.Cys129Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458516G= | CA1881249984 | ASS1 | c.290G= (p.Cys97=) c.404G= (p.Cys135=) c.386G= (p.Cys129=) | |
9 | g.130458516G>T | CA375225221 | ASS1 | c.290G>T (p.Cys97Phe) c.404G>T (p.Cys135Phe) c.386G>T (p.Cys129Phe) | |
9 | g.130458517C>A | CA375225222 | ASS1 | c.291C>A (p.Cys97Ter) c.405C>A (p.Cys135Ter) c.387C>A (p.Cys129Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.130458517C= | CA1881249985 | ASS1 | c.291C= (p.Cys97=) c.405C= (p.Cys135=) c.387C= (p.Cys129=) | |
9 | g.130458517C>G | CA375225223 | ASS1 | c.291C>G (p.Cys97Trp) c.405C>G (p.Cys135Trp) c.387C>G (p.Cys129Trp) | |
9 | g.130458517C>T | CA467388553 | ASS1 | c.291C>T (p.Cys97=) c.405C>T (p.Cys135=) c.387C>T (p.Cys129=) | |
9 | g.130458518A= | CA1881249986 | ASS1 | c.292A= (p.Ile98=) n.1A= c.406A= (p.Ile136=) c.388A= (p.Ile130=) | |
9 | g.130458518A>C | CA375225224 | ASS1 | c.292A>C (p.Ile98Leu) n.1A>C c.406A>C (p.Ile136Leu) c.388A>C (p.Ile130Leu) | |
9 | g.130458518A>G | CA5283215 | ASS1 | c.292A>G (p.Ile98Val) n.1A>G c.406A>G (p.Ile136Val) c.388A>G (p.Ile130Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458518A>T | CA375225225 | ASS1 | c.292A>T (p.Ile98Phe) n.1A>T c.406A>T (p.Ile136Phe) c.388A>T (p.Ile130Phe) | |
9 | g.130458519T>A | CA375225228 | ASS1 | c.293T>A (p.Ile98Asn) n.2T>A c.407T>A (p.Ile136Asn) c.389T>A (p.Ile130Asn) | |
9 | g.130458519T>C | CA375225227 | ASS1 | c.293T>C (p.Ile98Thr) n.2T>C c.407T>C (p.Ile136Thr) c.389T>C (p.Ile130Thr) | |
9 | g.130458519T>G | CA375225226 | ASS1 | c.293T>G (p.Ile98Ser) n.2T>G c.407T>G (p.Ile136Ser) c.389T>G (p.Ile130Ser) | |
9 | g.130458520C>A | CA467388555 | ASS1 | c.294C>A (p.Ile98=) n.3C>A c.408C>A (p.Ile136=) c.390C>A (p.Ile130=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130458520C= | CA1881249987 | ASS1 | c.294C= (p.Ile98=) n.3C= c.408C= (p.Ile136=) c.390C= (p.Ile130=) | |
9 | g.130458520C>G | CA375225229 | ASS1 | c.294C>G (p.Ile98Met) n.3C>G c.408C>G (p.Ile136Met) c.390C>G (p.Ile130Met) | |
9 | g.130458520C>T | CA5283216 | ASS1 | c.294C>T (p.Ile98=) n.3C>T c.408C>T (p.Ile136=) c.390C>T (p.Ile130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458521G>A | CA5283217 | ASS1 | c.295G>A (p.Ala99Thr) n.4G>A c.409G>A (p.Ala137Thr) c.391G>A (p.Ala131Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458521G>C | CA375225230 | ASS1 | c.295G>C (p.Ala99Pro) n.4G>C c.409G>C (p.Ala137Pro) c.391G>C (p.Ala131Pro) | |
9 | g.130458521G= | CA1881249988 | ASS1 | c.295G= (p.Ala99=) n.4G= c.409G= (p.Ala137=) c.391G= (p.Ala131=) | |
9 | g.130458521G>T | CA375225231 | ASS1 | c.295G>T (p.Ala99Ser) n.4G>T c.409G>T (p.Ala137Ser) c.391G>T (p.Ala131Ser) | |
9 | g.130458522C>A | CA375225234 | ASS1 | c.296C>A (p.Ala99Asp) n.5C>A c.410C>A (p.Ala137Asp) c.392C>A (p.Ala131Asp) | |
9 | g.130458522C>G | CA375225233 | ASS1 | c.296C>G (p.Ala99Gly) n.5C>G c.410C>G (p.Ala137Gly) c.392C>G (p.Ala131Gly) | |
9 | g.130458522C>T | CA375225232 | ASS1 | c.296C>T (p.Ala99Val) n.5C>T c.410C>T (p.Ala137Val) c.392C>T (p.Ala131Val) | |
9 | g.130458523C>A | CA467388559 | ASS1 | c.297C>A (p.Ala99=) n.6C>A c.411C>A (p.Ala137=) c.393C>A (p.Ala131=) | |
9 | g.130458523C= | CA1881249989 | ASS1 | c.297C= (p.Ala99=) n.6C= c.411C= (p.Ala137=) c.393C= (p.Ala131=) | |
9 | g.130458523C>G | CA467388562 | ASS1 | c.297C>G (p.Ala99=) n.6C>G c.411C>G (p.Ala137=) c.393C>G (p.Ala131=) | |
9 | g.130458523C>T | CA467388561 | ASS1 | c.297C>T (p.Ala99=) n.6C>T c.411C>T (p.Ala137=) c.393C>T (p.Ala131=) | dbSNP |
9 | g.130458524C>A | CA375225235 | ASS1 | c.298C>A (p.Arg100Ser) n.7C>A c.412C>A (p.Arg138Ser) c.394C>A (p.Arg132Ser) | |
9 | g.130458524C= | CA1881249990 | ASS1 | c.298C= (p.Arg100=) n.7C= c.412C= (p.Arg138=) c.394C= (p.Arg132=) | |
9 | g.130458524C>G | CA375225236 | ASS1 | c.298C>G (p.Arg100Gly) n.7C>G c.412C>G (p.Arg138Gly) c.394C>G (p.Arg132Gly) | |
9 | g.130458524C>T | CA5283218 | ASS1 | c.298C>T (p.Arg100Cys) n.7C>T c.412C>T (p.Arg138Cys) c.394C>T (p.Arg132Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458525_130458526dup | CA2692120797 | ASS1 | c.299_300dup (p.Lys101AlafsTer?) n.8_9dup c.413_414dup (p.Lys139AlafsTer?) c.395_396dup (p.Lys133AlafsTer?) | gnomAD v4 |
9 | g.130458525del | CA2692120804 | ASS1 | c.299del (p.Arg100ProfsTer?) n.8del c.413del (p.Arg138ProfsTer?) c.395del (p.Arg132ProfsTer?) | ClinVar gnomAD v4 |
9 | g.130458525G>A | CA5283219 | ASS1 | c.299G>A (p.Arg100His) n.8G>A c.413G>A (p.Arg138His) c.395G>A (p.Arg132His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458525G>C | CA375225237 | ASS1 | c.299G>C (p.Arg100Pro) n.8G>C c.413G>C (p.Arg138Pro) c.395G>C (p.Arg132Pro) | |
9 | g.130458525G= | CA1881249991 | ASS1 | c.299G= (p.Arg100=) n.8G= c.413G= (p.Arg138=) c.395G= (p.Arg132=) | |
9 | g.130458525G>T | CA375225238 | ASS1 | c.299G>T (p.Arg100Leu) n.8G>T c.413G>T (p.Arg138Leu) c.395G>T (p.Arg132Leu) | ClinVar |
9 | g.130458526C>A | CA467388565 | ASS1 | c.300C>A (p.Arg100=) n.9C>A c.414C>A (p.Arg138=) c.396C>A (p.Arg132=) | |
9 | g.130458526C>G | CA467388568 | ASS1 | c.300C>G (p.Arg100=) n.9C>G c.414C>G (p.Arg138=) c.396C>G (p.Arg132=) | |
9 | g.130458526C>T | CA467388566 | ASS1 | c.300C>T (p.Arg100=) n.9C>T c.414C>T (p.Arg138=) c.396C>T (p.Arg132=) | ClinVar |
9 | g.130458527A>C | CA375225239 | ASS1 | c.301A>C (p.Lys101Gln) n.10A>C c.415A>C (p.Lys139Gln) c.397A>C (p.Lys133Gln) | |
9 | g.130458527A>G | CA375225241 | ASS1 | c.301A>G (p.Lys101Glu) n.10A>G c.415A>G (p.Lys139Glu) c.397A>G (p.Lys133Glu) | gnomAD v4 |
9 | g.130458527A>T | CA375225240 | ASS1 | c.301A>T (p.Lys101Ter) n.10A>T c.415A>T (p.Lys139Ter) c.397A>T (p.Lys133Ter) | |
9 | g.130458528A>C | CA375225242 | ASS1 | c.302A>C (p.Lys101Thr) n.11A>C c.416A>C (p.Lys139Thr) c.398A>C (p.Lys133Thr) | |
9 | g.130458528A>G | CA375225243 | ASS1 | c.302A>G (p.Lys101Arg) n.11A>G c.416A>G (p.Lys139Arg) c.398A>G (p.Lys133Arg) | |
9 | g.130458528A>T | CA375225244 | ASS1 | c.302A>T (p.Lys101Ile) n.11A>T c.416A>T (p.Lys139Ile) c.398A>T (p.Lys133Ile) | |
9 | g.130458529A>C | CA375225245 | ASS1 | c.303A>C (p.Lys101Asn) n.12A>C c.417A>C (p.Lys139Asn) c.399A>C (p.Lys133Asn) | |
9 | g.130458529A>G | CA467388572 | ASS1 | c.303A>G (p.Lys101=) n.12A>G c.417A>G (p.Lys139=) c.399A>G (p.Lys133=) | |
9 | g.130458529A>T | CA375225246 | ASS1 | c.303A>T (p.Lys101Asn) n.12A>T c.417A>T (p.Lys139Asn) c.399A>T (p.Lys133Asn) | |
9 | g.130458530del | CA2695211514 | ASS1 | c.304del (p.Gln102LysfsTer?) n.13del c.418del (p.Gln140LysfsTer?) c.400del (p.Gln134LysfsTer?) | |
9 | g.130458530C>A | CA375225247 | ASS1 | c.304C>A (p.Gln102Lys) n.13C>A c.418C>A (p.Gln140Lys) c.400C>A (p.Gln134Lys) | |
9 | g.130458530C>G | CA375225248 | ASS1 | c.304C>G (p.Gln102Glu) n.13C>G c.418C>G (p.Gln140Glu) c.400C>G (p.Gln134Glu) | |
9 | g.130458530C>T | CA375225249 | ASS1 | c.304C>T (p.Gln102Ter) n.13C>T c.418C>T (p.Gln140Ter) c.400C>T (p.Gln134Ter) | |
9 | g.130458531A>C | CA375225250 | ASS1 | c.305A>C (p.Gln102Pro) n.14A>C c.419A>C (p.Gln140Pro) c.401A>C (p.Gln134Pro) | |
9 | g.130458531A>G | CA375225251 | ASS1 | c.305A>G (p.Gln102Arg) n.14A>G c.419A>G (p.Gln140Arg) c.401A>G (p.Gln134Arg) | |
9 | g.130458531A>T | CA375225252 | ASS1 | c.305A>T (p.Gln102Leu) n.14A>T c.419A>T (p.Gln140Leu) c.401A>T (p.Gln134Leu) | |
9 | g.130458532A= | CA1881249992 | ASS1 | c.306A= (p.Gln102=) n.15A= c.420A= (p.Gln140=) c.402A= (p.Gln134=) | |
9 | g.130458532A>C | CA375225254 | ASS1 | c.306A>C (p.Gln102His) n.15A>C c.420A>C (p.Gln140His) c.402A>C (p.Gln134His) | |
9 | g.130458532A>G | CA5283220 | ASS1 | c.306A>G (p.Gln102=) n.15A>G c.420A>G (p.Gln140=) c.402A>G (p.Gln134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458532A>T | CA375225253 | ASS1 | c.306A>T (p.Gln102His) n.15A>T c.420A>T (p.Gln140His) c.402A>T (p.Gln134His) | |
9 | g.130458533G>A | CA200608079 | ASS1 | c.307G>A (p.Val103Met) n.16G>A c.421G>A (p.Val141Met) c.403G>A (p.Val135Met) | dbSNP gnomAD v4 |
9 | g.130458533G>C | CA375225255 | ASS1 | c.307G>C (p.Val103Leu) n.16G>C c.421G>C (p.Val141Leu) c.403G>C (p.Val135Leu) | |
9 | g.130458533G= | CA1881249993 | ASS1 | c.307G= (p.Val103=) n.16G= c.421G= (p.Val141=) c.403G= (p.Val135=) | |
9 | g.130458533G>T | CA375225256 | ASS1 | c.307G>T (p.Val103Leu) n.16G>T c.421G>T (p.Val141Leu) c.403G>T (p.Val135Leu) | |
9 | g.130458534T>A | CA375225257 | ASS1 | c.308T>A (p.Val103Glu) n.17T>A c.422T>A (p.Val141Glu) c.404T>A (p.Val135Glu) | |
9 | g.130458534T>C | CA375225258 | ASS1 | c.308T>C (p.Val103Ala) n.17T>C c.422T>C (p.Val141Ala) c.404T>C (p.Val135Ala) | |
9 | g.130458534T>G | CA375225259 | ASS1 | c.308T>G (p.Val103Gly) n.17T>G c.422T>G (p.Val141Gly) c.404T>G (p.Val135Gly) | |
9 | g.130458535G>A | CA467388579 | ASS1 | c.309G>A (p.Val103=) n.18G>A c.423G>A (p.Val141=) c.405G>A (p.Val135=) | ClinVar dbSNP |
9 | g.130458535G>C | CA467388580 | ASS1 | c.309G>C (p.Val103=) n.18G>C c.423G>C (p.Val141=) c.405G>C (p.Val135=) | |
9 | g.130458535G= | CA1881249994 | ASS1 | c.309G= (p.Val103=) n.18G= c.423G= (p.Val141=) c.405G= (p.Val135=) | |
9 | g.130458535G>T | CA467388581 | ASS1 | c.309G>T (p.Val103=) n.18G>T c.423G>T (p.Val141=) c.405G>T (p.Val135=) | |
9 | g.130458536G>A | CA375225262 | ASS1 | c.310G>A (p.Glu104Lys) n.19G>A c.424G>A (p.Glu142Lys) c.406G>A (p.Glu136Lys) | gnomAD v4 COSMIC |
9 | g.130458536G>C | CA375225260 | ASS1 | c.310G>C (p.Glu104Gln) n.19G>C c.424G>C (p.Glu142Gln) c.406G>C (p.Glu136Gln) | |
9 | g.130458536G>T | CA375225261 | ASS1 | c.310G>T (p.Glu104Ter) n.19G>T c.424G>T (p.Glu142Ter) c.406G>T (p.Glu136Ter) | |
9 | g.130458537A>C | CA375225263 | ASS1 | c.311A>C (p.Glu104Ala) n.20A>C c.425A>C (p.Glu142Ala) c.407A>C (p.Glu136Ala) | |
9 | g.130458537A>G | CA375225264 | ASS1 | c.311A>G (p.Glu104Gly) n.20A>G c.425A>G (p.Glu142Gly) c.407A>G (p.Glu136Gly) | |
9 | g.130458537A>T | CA375225265 | ASS1 | c.311A>T (p.Glu104Val) n.20A>T c.425A>T (p.Glu142Val) c.407A>T (p.Glu136Val) | |
9 | g.130458538A>C | CA375225266 | ASS1 | c.312A>C (p.Glu104Asp) n.21A>C c.426A>C (p.Glu142Asp) c.408A>C (p.Glu136Asp) | |
9 | g.130458538A>G | CA467388589 | ASS1 | c.312A>G (p.Glu104=) n.21A>G c.426A>G (p.Glu142=) c.408A>G (p.Glu136=) | |
9 | g.130458538A>T | CA375225267 | ASS1 | c.312A>T (p.Glu104Asp) n.21A>T c.426A>T (p.Glu142Asp) c.408A>T (p.Glu136Asp) | |
9 | g.130458539A= | CA1881249995 | ASS1 | c.313A= (p.Ile105=) n.22A= c.427A= (p.Ile143=) c.409A= (p.Ile137=) | |
9 | g.130458539A>C | CA375225270 | ASS1 | c.313A>C (p.Ile105Leu) n.22A>C c.427A>C (p.Ile143Leu) c.409A>C (p.Ile137Leu) | |
9 | g.130458539A>G | CA375225268 | ASS1 | c.313A>G (p.Ile105Val) n.22A>G c.427A>G (p.Ile143Val) c.409A>G (p.Ile137Val) | dbSNP |
9 | g.130458539A>T | CA375225269 | ASS1 | c.313A>T (p.Ile105Phe) n.22A>T c.427A>T (p.Ile143Phe) c.409A>T (p.Ile137Phe) | |
9 | g.130458540T>A | CA375225271 | ASS1 | c.314T>A (p.Ile105Asn) n.23T>A c.428T>A (p.Ile143Asn) c.410T>A (p.Ile137Asn) | |
9 | g.130458540T>C | CA375225272 | ASS1 | c.314T>C (p.Ile105Thr) n.23T>C c.428T>C (p.Ile143Thr) c.410T>C (p.Ile137Thr) | |
9 | g.130458540T>G | CA375225273 | ASS1 | c.314T>G (p.Ile105Ser) n.23T>G c.428T>G (p.Ile143Ser) c.410T>G (p.Ile137Ser) | ClinVar dbSNP |
9 | g.130458540T= | CA1881249996 | ASS1 | c.314T= (p.Ile105=) n.23T= c.428T= (p.Ile143=) c.410T= (p.Ile137=) | |
9 | g.130458541C>A | CA467388592 | ASS1 | c.315C>A (p.Ile105=) n.24C>A c.429C>A (p.Ile143=) c.411C>A (p.Ile137=) | |
9 | g.130458541C= | CA1881249997 | ASS1 | c.315C= (p.Ile105=) n.24C= c.429C= (p.Ile143=) c.411C= (p.Ile137=) | |
9 | g.130458541C>G | CA375225274 | ASS1 | c.315C>G (p.Ile105Met) n.24C>G c.429C>G (p.Ile143Met) c.411C>G (p.Ile137Met) | gnomAD v4 |
9 | g.130458541C>T | CA200608083 | ASS1 | c.315C>T (p.Ile105=) n.24C>T c.429C>T (p.Ile143=) c.411C>T (p.Ile137=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458542G>A | CA5283221 | ASS1 | c.316G>A (p.Ala106Thr) n.25G>A c.430G>A (p.Ala144Thr) c.412G>A (p.Ala138Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130458542G>C | CA375225275 | ASS1 | c.316G>C (p.Ala106Pro) n.25G>C c.430G>C (p.Ala144Pro) c.412G>C (p.Ala138Pro) | |
9 | g.130458542G= | CA1881249998 | ASS1 | c.316G= (p.Ala106=) n.25G= c.430G= (p.Ala144=) c.412G= (p.Ala138=) | |
9 | g.130458542G>T | CA375225276 | ASS1 | c.316G>T (p.Ala106Ser) n.25G>T c.430G>T (p.Ala144Ser) c.412G>T (p.Ala138Ser) | |
9 | g.130458542_130458543delinsGC | CA1881249999 | ASS1 | c.316_317delinsGC (p.Ala106=) n.25_26delinsGC c.430_431delinsGC (p.Ala144=) c.412_413delinsGC (p.Ala138=) | |
9 | g.130458543C>A | CA375225277 | ASS1 | c.317C>A (p.Ala106Asp) n.26C>A c.431C>A (p.Ala144Asp) c.413C>A (p.Ala138Asp) | |
9 | g.130458543C= | CA1881250000 | ASS1 | c.317C= (p.Ala106=) n.26C= c.431C= (p.Ala144=) c.413C= (p.Ala138=) | |
9 | g.130458543C>G | CA5283222 | ASS1 | c.317C>G (p.Ala106Gly) n.26C>G c.431C>G (p.Ala144Gly) c.413C>G (p.Ala138Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458543C>T | CA375225278 | ASS1 | c.317C>T (p.Ala106Val) n.26C>T c.431C>T (p.Ala144Val) c.413C>T (p.Ala138Val) | gnomAD v4 |
9 | g.130458545del | CA891843121 | ASS1 | c.319del (p.Gln107SerfsTer?) n.28del c.433del (p.Gln145SerfsTer?) c.415del (p.Gln139SerfsTer?) | ClinVar dbSNP |
9 | g.130458544C>A | CA467388597 | ASS1 | c.318C>A (p.Ala106=) n.27C>A c.432C>A (p.Ala144=) c.414C>A (p.Ala138=) | |
9 | g.130458544C>G | CA467388598 | ASS1 | c.318C>G (p.Ala106=) n.27C>G c.432C>G (p.Ala144=) c.414C>G (p.Ala138=) | |
9 | g.130458544C>T | CA467388600 | ASS1 | c.318C>T (p.Ala106=) n.27C>T c.432C>T (p.Ala144=) c.414C>T (p.Ala138=) | ClinVar |
9 | g.130458545C>A | CA375225279 | ASS1 | c.319C>A (p.Gln107Lys) n.28C>A c.433C>A (p.Gln145Lys) c.415C>A (p.Gln139Lys) | |
9 | g.130458545C>G | CA375225280 | ASS1 | c.319C>G (p.Gln107Glu) n.28C>G c.433C>G (p.Gln145Glu) c.415C>G (p.Gln139Glu) | |
9 | g.130458545C>T | CA375225281 | ASS1 | c.319C>T (p.Gln107Ter) n.28C>T c.433C>T (p.Gln145Ter) c.415C>T (p.Gln139Ter) | |
9 | g.130458546A= | CA1881250001 | ASS1 | c.320A= (p.Gln107=) n.29A= c.434A= (p.Gln145=) c.416A= (p.Gln139=) | |
9 | g.130458546A>C | CA375225282 | ASS1 | c.320A>C (p.Gln107Pro) n.29A>C c.434A>C (p.Gln145Pro) c.416A>C (p.Gln139Pro) | |
9 | g.130458546A>G | CA5283223 | ASS1 | c.320A>G (p.Gln107Arg) n.29A>G c.434A>G (p.Gln145Arg) c.416A>G (p.Gln139Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458546A>T | CA375225283 | ASS1 | c.320A>T (p.Gln107Leu) n.29A>T c.434A>T (p.Gln145Leu) c.416A>T (p.Gln139Leu) | |
9 | g.130458547G>A | CA467388609 | ASS1 | c.321G>A (p.Gln107=) n.30G>A c.435G>A (p.Gln145=) c.417G>A (p.Gln139=) | COSMIC |
9 | g.130458547G>C | CA375225284 | ASS1 | c.321G>C (p.Gln107His) n.30G>C c.435G>C (p.Gln145His) c.417G>C (p.Gln139His) | |
9 | g.130458547G>T | CA375225285 | ASS1 | c.321G>T (p.Gln107His) n.30G>T c.435G>T (p.Gln145His) c.417G>T (p.Gln139His) | |
9 | g.130458548C>A | CA467388610 | ASS1 | c.322C>A (p.Arg108=) n.31C>A c.436C>A (p.Arg146=) c.418C>A (p.Arg140=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458548C= | CA1881250002 | ASS1 | c.322C= (p.Arg108=) n.31C= c.436C= (p.Arg146=) c.418C= (p.Arg140=) | |
9 | g.130458548C>G | CA375225286 | ASS1 | c.322C>G (p.Arg108Gly) n.31C>G c.436C>G (p.Arg146Gly) c.418C>G (p.Arg140Gly) | |
9 | g.130458548C>T | CA5283224 | ASS1 | c.322C>T (p.Arg108Trp) n.31C>T c.436C>T (p.Arg146Trp) c.418C>T (p.Arg140Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458549G>A | CA5283225 | ASS1 | c.323G>A (p.Arg108Gln) n.32G>A c.437G>A (p.Arg146Gln) c.419G>A (p.Arg140Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458549G>C | CA375225287 | ASS1 | c.323G>C (p.Arg108Pro) n.32G>C c.437G>C (p.Arg146Pro) c.419G>C (p.Arg140Pro) | |
9 | g.130458549G= | CA1881250003 | ASS1 | c.323G= (p.Arg108=) n.32G= c.437G= (p.Arg146=) c.419G= (p.Arg140=) | |
9 | g.130458549G>T | CA253840 | ASS1 | c.323G>T (p.Arg108Leu) n.32G>T c.437G>T (p.Arg146Leu) c.419G>T (p.Arg140Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458551del | CA2579483377 | ASS1 | c.325del (p.Glu109ArgfsTer?) n.34del c.439del (p.Glu147ArgfsTer?) c.421del (p.Glu141ArgfsTer?) | |
9 | g.130458550G>A | CA467388614 | ASS1 | c.324G>A (p.Arg108=) n.33G>A c.438G>A (p.Arg146=) c.420G>A (p.Arg140=) | ClinVar |
9 | g.130458550G>C | CA467388615 | ASS1 | c.324G>C (p.Arg108=) n.33G>C c.438G>C (p.Arg146=) c.420G>C (p.Arg140=) | |
9 | g.130458550G>T | CA467388616 | ASS1 | c.324G>T (p.Arg108=) n.33G>T c.438G>T (p.Arg146=) c.420G>T (p.Arg140=) | |
9 | g.130458551G>A | CA5283226 | ASS1 | c.325G>A (p.Glu109Lys) n.34G>A c.439G>A (p.Glu147Lys) c.421G>A (p.Glu141Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458551G>C | CA375225288 | ASS1 | c.325G>C (p.Glu109Gln) n.34G>C c.439G>C (p.Glu147Gln) c.421G>C (p.Glu141Gln) | |
9 | g.130458551G= | CA1881250004 | ASS1 | c.325G= (p.Glu109=) n.34G= c.439G= (p.Glu147=) c.421G= (p.Glu141=) | |
9 | g.130458551G>T | CA375225289 | ASS1 | c.325G>T (p.Glu109Ter) n.34G>T c.439G>T (p.Glu147Ter) c.421G>T (p.Glu141Ter) | |
9 | g.130458552A= | CA1881250005 | ASS1 | c.326A= (p.Glu109=) n.35A= c.440A= (p.Glu147=) c.422A= (p.Glu141=) | |
9 | g.130458552A>C | CA375225290 | ASS1 | c.326A>C (p.Glu109Ala) n.35A>C c.440A>C (p.Glu147Ala) c.422A>C (p.Glu141Ala) | |
9 | g.130458552A>G | CA375225291 | ASS1 | c.326A>G (p.Glu109Gly) n.35A>G c.440A>G (p.Glu147Gly) c.422A>G (p.Glu141Gly) | gnomAD v4 |
9 | g.130458552A>T | CA200608129 | ASS1 | c.326A>T (p.Glu109Val) n.35A>T c.440A>T (p.Glu147Val) c.422A>T (p.Glu141Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.130458552_130458553insT | CA2579483378 | ASS1 | c.326_327insT (p.Glu109AspfsTer21) c.326_327insT (p.Glu109AspfsTer22) n.35_36insT c.440_441insT (p.Glu147AspfsTer21) c.422_423insT (p.Glu141AspfsTer21) | |
9 | g.130458553G>A | CA467388619 | ASS1 | c.327G>A (p.Glu109=) n.36G>A c.441G>A (p.Glu147=) c.423G>A (p.Glu141=) | |
9 | g.130458553G>C | CA375225293 | ASS1 | c.327G>C (p.Glu109Asp) n.36G>C c.441G>C (p.Glu147Asp) c.423G>C (p.Glu141Asp) | |
9 | g.130458553G>T | CA375225292 | ASS1 | c.327G>T (p.Glu109Asp) n.36G>T c.441G>T (p.Glu147Asp) c.423G>T (p.Glu141Asp) | |
9 | g.130458557dup | CA2832555789 | ASS1 | c.331dup (p.Ala111GlyfsTer19) c.331dup (p.Ala111GlyfsTer20) n.40dup c.445dup (p.Ala149GlyfsTer19) c.427dup (p.Ala143GlyfsTer19) | |
9 | g.130458554G>A | CA375225294 | ASS1 | c.328G>A (p.Gly110Arg) n.37G>A c.442G>A (p.Gly148Arg) c.424G>A (p.Gly142Arg) | ClinVar |
9 | g.130458554G>C | CA375225295 | ASS1 | c.328G>C (p.Gly110Arg) n.37G>C c.442G>C (p.Gly148Arg) c.424G>C (p.Gly142Arg) | |
9 | g.130458554G>T | CA375225296 | ASS1 | c.328G>T (p.Gly110Trp) n.37G>T c.442G>T (p.Gly148Trp) c.424G>T (p.Gly142Trp) | |
9 | g.130458555G>A | CA375225297 | ASS1 | c.329G>A (p.Gly110Glu) n.38G>A c.443G>A (p.Gly148Glu) c.425G>A (p.Gly142Glu) | |
9 | g.130458555G>C | CA375225298 | ASS1 | c.329G>C (p.Gly110Ala) n.38G>C c.443G>C (p.Gly148Ala) c.425G>C (p.Gly142Ala) | |
9 | g.130458555G>T | CA375225299 | ASS1 | c.329G>T (p.Gly110Val) n.38G>T c.443G>T (p.Gly148Val) c.425G>T (p.Gly142Val) | |
9 | g.130458556G>A | CA5283227 | ASS1 | c.330G>A (p.Gly110=) n.39G>A c.444G>A (p.Gly148=) c.426G>A (p.Gly142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458556G>C | CA467388620 | ASS1 | c.330G>C (p.Gly110=) n.39G>C c.444G>C (p.Gly148=) c.426G>C (p.Gly142=) | gnomAD v4 |
9 | g.130458556G= | CA1881250006 | ASS1 | c.330G= (p.Gly110=) n.39G= c.444G= (p.Gly148=) c.426G= (p.Gly142=) | |
9 | g.130458556G>T | CA467388621 | ASS1 | c.330G>T (p.Gly110=) n.39G>T c.444G>T (p.Gly148=) c.426G>T (p.Gly142=) | |
9 | g.130458557G>A | CA375225300 | ASS1 | c.331G>A (p.Ala111Thr) n.40G>A c.445G>A (p.Ala149Thr) c.427G>A (p.Ala143Thr) | gnomAD v4 COSMIC |
9 | g.130458557G>C | CA375225301 | ASS1 | c.331G>C (p.Ala111Pro) n.40G>C c.445G>C (p.Ala149Pro) c.427G>C (p.Ala143Pro) | |
9 | g.130458557G>T | CA375225302 | ASS1 | c.331G>T (p.Ala111Ser) n.40G>T c.445G>T (p.Ala149Ser) c.427G>T (p.Ala143Ser) | |
9 | g.130458558C>A | CA375225303 | ASS1 | c.332C>A (p.Ala111Asp) n.41C>A c.446C>A (p.Ala149Asp) c.428C>A (p.Ala143Asp) | |
9 | g.130458558C>G | CA375225304 | ASS1 | c.332C>G (p.Ala111Gly) n.41C>G c.446C>G (p.Ala149Gly) c.428C>G (p.Ala143Gly) | |
9 | g.130458558C>T | CA375225305 | ASS1 | c.332C>T (p.Ala111Val) n.41C>T c.446C>T (p.Ala149Val) c.428C>T (p.Ala143Val) | |
9 | g.130458559C>A | CA467388625 | ASS1 | c.333C>A (p.Ala111=) n.42C>A c.447C>A (p.Ala149=) c.429C>A (p.Ala143=) | |
9 | g.130458559C= | CA1881250007 | ASS1 | c.333C= (p.Ala111=) n.42C= c.447C= (p.Ala149=) c.429C= (p.Ala143=) | |
9 | g.130458559C>G | CA467388626 | ASS1 | c.333C>G (p.Ala111=) n.42C>G c.447C>G (p.Ala149=) c.429C>G (p.Ala143=) | |
9 | g.130458559C>T | CA5283228 | ASS1 | c.333C>T (p.Ala111=) n.42C>T c.447C>T (p.Ala149=) c.429C>T (p.Ala143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458560A>C | CA375225307 | ASS1 | c.334A>C (p.Lys112Gln) n.43A>C c.448A>C (p.Lys150Gln) c.430A>C (p.Lys144Gln) | |
9 | g.130458560A>G | CA375225308 | ASS1 | c.334A>G (p.Lys112Glu) n.43A>G c.448A>G (p.Lys150Glu) c.430A>G (p.Lys144Glu) | |
9 | g.130458560A>T | CA375225306 | ASS1 | c.334A>T (p.Lys112Ter) n.43A>T c.448A>T (p.Lys150Ter) c.430A>T (p.Lys144Ter) | |
9 | g.130458561A>C | CA375225310 | ASS1 | c.335A>C (p.Lys112Thr) n.44A>C c.449A>C (p.Lys150Thr) c.431A>C (p.Lys144Thr) | |
9 | g.130458561A>G | CA375225309 | ASS1 | c.335A>G (p.Lys112Arg) n.44A>G c.449A>G (p.Lys150Arg) c.431A>G (p.Lys144Arg) | |
9 | g.130458561A>T | CA375225311 | ASS1 | c.335A>T (p.Lys112Met) n.44A>T c.449A>T (p.Lys150Met) c.431A>T (p.Lys144Met) | |
9 | g.130458562G>A | CA200608172 | ASS1 | c.336G>A (p.Lys112=) n.45G>A c.450G>A (p.Lys150=) c.432G>A (p.Lys144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458562G>C | CA375225313 | ASS1 | c.336G>C (p.Lys112Asn) n.45G>C c.450G>C (p.Lys150Asn) c.432G>C (p.Lys144Asn) | |
9 | g.130458562G= | CA1881250008 | ASS1 | c.336G= (p.Lys112=) n.45G= c.450G= (p.Lys150=) c.432G= (p.Lys144=) | |
9 | g.130458562G>T | CA375225312 | ASS1 | c.336G>T (p.Lys112Asn) n.45G>T c.450G>T (p.Lys150Asn) c.432G>T (p.Lys144Asn) | gnomAD v4 |
9 | g.130458563T>A | CA375225314 | ASS1 | c.337T>A (p.Tyr113Asn) n.46T>A c.451T>A (p.Tyr151Asn) c.433T>A (p.Tyr145Asn) | |
9 | g.130458563T>C | CA375225316 | ASS1 | c.337T>C (p.Tyr113His) n.46T>C c.451T>C (p.Tyr151His) c.433T>C (p.Tyr145His) | |
9 | g.130458563T>G | CA375225315 | ASS1 | c.337T>G (p.Tyr113Asp) n.46T>G c.451T>G (p.Tyr151Asp) c.433T>G (p.Tyr145Asp) | |
9 | g.130458564A= | CA1881250009 | ASS1 | c.338A= (p.Tyr113=) n.47A= c.452A= (p.Tyr151=) c.434A= (p.Tyr145=) | |
9 | g.130458564A>C | CA375225317 | ASS1 | c.338A>C (p.Tyr113Ser) n.47A>C c.452A>C (p.Tyr151Ser) c.434A>C (p.Tyr145Ser) | |
9 | g.130458564A>G | CA5283229 | ASS1 | c.338A>G (p.Tyr113Cys) n.47A>G c.452A>G (p.Tyr151Cys) c.434A>G (p.Tyr145Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458564A>T | CA375225318 | ASS1 | c.338A>T (p.Tyr113Phe) n.47A>T c.452A>T (p.Tyr151Phe) c.434A>T (p.Tyr145Phe) | |
9 | g.130458565T>A | CA375225319 | ASS1 | c.339T>A (p.Tyr113Ter) n.48T>A c.453T>A (p.Tyr151Ter) c.435T>A (p.Tyr145Ter) | |
9 | g.130458565T>C | CA467388631 | ASS1 | c.339T>C (p.Tyr113=) n.48T>C c.453T>C (p.Tyr151=) c.435T>C (p.Tyr145=) | |
9 | g.130458565T>G | CA375225320 | ASS1 | c.339T>G (p.Tyr113Ter) n.48T>G c.453T>G (p.Tyr151Ter) c.435T>G (p.Tyr145Ter) | ClinVar dbSNP |
9 | g.130458565T= | CA1881250010 | ASS1 | c.339T= (p.Tyr113=) n.48T= c.453T= (p.Tyr151=) c.435T= (p.Tyr145=) | |
9 | g.130458566G>A | CA5283230 | ASS1 | c.340G>A (p.Val114Met) n.49G>A c.454G>A (p.Val152Met) c.436G>A (p.Val146Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458566G>C | CA375225322 | ASS1 | c.340G>C (p.Val114Leu) n.49G>C c.454G>C (p.Val152Leu) c.436G>C (p.Val146Leu) | |
9 | g.130458566G= | CA1881250011 | ASS1 | c.340G= (p.Val114=) n.49G= c.454G= (p.Val152=) c.436G= (p.Val146=) | |
9 | g.130458566G>T | CA375225321 | ASS1 | c.340G>T (p.Val114Leu) n.49G>T c.454G>T (p.Val152Leu) c.436G>T (p.Val146Leu) | |
9 | g.130458567T>A | CA375225323 | ASS1 | c.341T>A (p.Val114Glu) n.50T>A c.455T>A (p.Val152Glu) c.437T>A (p.Val146Glu) | gnomAD v4 |
9 | g.130458567T>C | CA375225325 | ASS1 | c.341T>C (p.Val114Ala) n.50T>C c.455T>C (p.Val152Ala) c.437T>C (p.Val146Ala) | |
9 | g.130458567T>G | CA375225324 | ASS1 | c.341T>G (p.Val114Gly) n.50T>G c.455T>G (p.Val152Gly) c.437T>G (p.Val146Gly) | |
9 | g.130458568G>A | CA5283231 | ASS1 | c.342G>A (p.Val114=) n.51G>A c.456G>A (p.Val152=) c.438G>A (p.Val146=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458568G>C | CA467388634 | ASS1 | c.342G>C (p.Val114=) n.51G>C c.456G>C (p.Val152=) c.438G>C (p.Val146=) | gnomAD v4 |
9 | g.130458568G= | CA1881250012 | ASS1 | c.342G= (p.Val114=) n.51G= c.456G= (p.Val152=) c.438G= (p.Val146=) | |
9 | g.130458568G>T | CA467388635 | ASS1 | c.342G>T (p.Val114=) n.51G>T c.456G>T (p.Val152=) c.438G>T (p.Val146=) | |
9 | g.130458569T>A | CA375225327 | ASS1 | c.343T>A (p.Ser115Thr) n.52T>A c.457T>A (p.Ser153Thr) c.439T>A (p.Ser147Thr) | |
9 | g.130458569T>C | CA375225326 | ASS1 | c.343T>C (p.Ser115Pro) n.52T>C c.457T>C (p.Ser153Pro) c.439T>C (p.Ser147Pro) | |
9 | g.130458569T>G | CA375225328 | ASS1 | c.343T>G (p.Ser115Ala) n.52T>G c.457T>G (p.Ser153Ala) c.439T>G (p.Ser147Ala) | |
9 | g.130458570C>A | CA375225329 | ASS1 | c.344C>A (p.Ser115Tyr) n.53C>A c.458C>A (p.Ser153Tyr) c.440C>A (p.Ser147Tyr) | |
9 | g.130458570C>G | CA375225331 | ASS1 | c.344C>G (p.Ser115Cys) n.53C>G c.458C>G (p.Ser153Cys) c.440C>G (p.Ser147Cys) | |
9 | g.130458570C>T | CA375225330 | ASS1 | c.344C>T (p.Ser115Phe) n.53C>T c.458C>T (p.Ser153Phe) c.440C>T (p.Ser147Phe) | |
9 | g.130458571C>A | CA467388637 | ASS1 | c.345C>A (p.Ser115=) n.54C>A c.459C>A (p.Ser153=) c.441C>A (p.Ser147=) | |
9 | g.130458571C= | CA1881250013 | ASS1 | c.345C= (p.Ser115=) n.54C= c.459C= (p.Ser153=) c.441C= (p.Ser147=) | |
9 | g.130458571C>G | CA467388638 | ASS1 | c.345C>G (p.Ser115=) n.54C>G c.459C>G (p.Ser153=) c.441C>G (p.Ser147=) | |
9 | g.130458571C>T | CA467388639 | ASS1 | c.345C>T (p.Ser115=) n.54C>T c.459C>T (p.Ser153=) c.441C>T (p.Ser147=) | dbSNP gnomAD v2 COSMIC |
9 | g.130458572C>A | CA375225332 | ASS1 | c.346C>A (p.His116Asn) n.55C>A c.460C>A (p.His154Asn) c.442C>A (p.His148Asn) | |
9 | g.130458572C>G | CA375225333 | ASS1 | c.346C>G (p.His116Asp) n.55C>G c.460C>G (p.His154Asp) c.442C>G (p.His148Asp) | |
9 | g.130458572C>T | CA375225334 | ASS1 | c.346C>T (p.His116Tyr) n.55C>T c.460C>T (p.His154Tyr) c.442C>T (p.His148Tyr) | |
9 | g.130458573A>C | CA375225335 | ASS1 | c.347A>C (p.His116Pro) n.56A>C c.461A>C (p.His154Pro) c.443A>C (p.His148Pro) | |
9 | g.130458573A>G | CA375225336 | ASS1 | c.347A>G (p.His116Arg) n.56A>G c.461A>G (p.His154Arg) c.443A>G (p.His148Arg) | |
9 | g.130458573A>T | CA375225337 | ASS1 | c.347A>T (p.His116Leu) n.56A>T c.461A>T (p.His154Leu) c.443A>T (p.His148Leu) | |
9 | g.130458574C>A | CA375225338 | ASS1 | c.348C>A (p.His116Gln) n.57C>A c.462C>A (p.His154Gln) c.444C>A (p.His148Gln) | |
9 | g.130458574C= | CA1881250014 | ASS1 | c.348C= (p.His116=) n.57C= c.462C= (p.His154=) c.444C= (p.His148=) | |
9 | g.130458574C>G | CA375225339 | ASS1 | c.348C>G (p.His116Gln) n.57C>G c.462C>G (p.His154Gln) c.444C>G (p.His148Gln) | |
9 | g.130458574C>T | CA5283232 | ASS1 | c.348C>T (p.His116=) n.57C>T c.462C>T (p.His154=) c.444C>T (p.His148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458575G>A | CA5283233 | ASS1 | c.349G>A (p.Gly117Ser) n.58G>A c.463G>A (p.Gly155Ser) c.445G>A (p.Gly149Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130458575G>C | CA375225340 | ASS1 | c.349G>C (p.Gly117Arg) n.58G>C c.463G>C (p.Gly155Arg) c.445G>C (p.Gly149Arg) | |
9 | g.130458575G= | CA1881250015 | ASS1 | c.349G= (p.Gly117=) n.58G= c.463G= (p.Gly155=) c.445G= (p.Gly149=) | |
9 | g.130458575G>T | CA375225341 | ASS1 | c.349G>T (p.Gly117Cys) n.58G>T c.463G>T (p.Gly155Cys) c.445G>T (p.Gly149Cys) | gnomAD v4 |
9 | g.130458576G>A | CA375225343 | ASS1 | c.350G>A (p.Gly117Asp) n.59G>A c.464G>A (p.Gly155Asp) c.446G>A (p.Gly149Asp) | ClinVar dbSNP gnomAD v4 |
9 | g.130458576G>C | CA375225342 | ASS1 | c.350G>C (p.Gly117Ala) n.59G>C c.464G>C (p.Gly155Ala) c.446G>C (p.Gly149Ala) | |
9 | g.130458576G= | CA1881250016 | ASS1 | c.350G= (p.Gly117=) n.59G= c.464G= (p.Gly155=) c.446G= (p.Gly149=) | |
9 | g.130458576G>T | CA5283234 | ASS1 | c.350G>T (p.Gly117Val) n.59G>T c.464G>T (p.Gly155Val) c.446G>T (p.Gly149Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130458577C>A | CA467388642 | ASS1 | c.351C>A (p.Gly117=) n.60C>A c.465C>A (p.Gly155=) c.447C>A (p.Gly149=) | |
9 | g.130458577C= | CA1881250017 | ASS1 | c.351C= (p.Gly117=) n.60C= c.465C= (p.Gly155=) c.447C= (p.Gly149=) | |
9 | g.130458577C>G | CA467388643 | ASS1 | c.351C>G (p.Gly117=) n.60C>G c.465C>G (p.Gly155=) c.447C>G (p.Gly149=) | |
9 | g.130458577C>T | CA5283235 | ASS1 | c.351C>T (p.Gly117=) n.60C>T c.465C>T (p.Gly155=) c.447C>T (p.Gly149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130458578G>A | CA5283236 | ASS1 | c.352G>A (p.Ala118Thr) n.61G>A c.466G>A (p.Ala156Thr) c.448G>A (p.Ala150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130458578G>C | CA375225344 | ASS1 | c.352G>C (p.Ala118Pro) n.61G>C c.466G>C (p.Ala156Pro) c.448G>C (p.Ala150Pro) | |
9 | g.130458578G= | CA1881250018 | ASS1 | c.352G= (p.Ala118=) n.61G= c.466G= (p.Ala156=) c.448G= (p.Ala150=) | |
9 | g.130458578G>T | CA375225345 | ASS1 | c.352G>T (p.Ala118Ser) n.61G>T c.466G>T (p.Ala156Ser) c.448G>T (p.Ala150Ser) | gnomAD v4 |
9 | g.130458579C>A | CA375225346 | ASS1 | c.353C>A (p.Ala118Asp) n.62C>A c.467C>A (p.Ala156Asp) c.449C>A (p.Ala150Asp) | |
9 | g.130458579C>G | CA375225347 | ASS1 | c.353C>G (p.Ala118Gly) n.62C>G c.467C>G (p.Ala156Gly) c.449C>G (p.Ala150Gly) | |
9 | g.130458579C>T | CA375225348 | ASS1 | c.353C>T (p.Ala118Val) n.62C>T c.467C>T (p.Ala156Val) c.449C>T (p.Ala150Val) | |
9 | g.130458580C>A | CA467388647 | ASS1 | c.354C>A (p.Ala118=) n.63C>A c.468C>A (p.Ala156=) c.450C>A (p.Ala150=) | |
9 | g.130458580C>G | CA467388648 | ASS1 | c.354C>G (p.Ala118=) n.63C>G c.468C>G (p.Ala156=) c.450C>G (p.Ala150=) | |
9 | g.130458580C>T | CA467388649 | ASS1 | c.354C>T (p.Ala118=) n.63C>T c.468C>T (p.Ala156=) c.450C>T (p.Ala150=) | |
9 | g.130458581A= | CA1881250019 | ASS1 | c.355A= (p.Thr119=) n.64A= c.469A= (p.Thr157=) c.451A= (p.Thr151=) | |
9 | g.130458581A>C | CA245886 | ASS1 | c.355A>C (p.Thr119Pro) n.64A>C c.469A>C (p.Thr157Pro) c.451A>C (p.Thr151Pro) | ClinVar dbSNP |
9 | g.130458581A>G | CA375225349 | ASS1 | c.355A>G (p.Thr119Ala) n.64A>G c.469A>G (p.Thr157Ala) c.451A>G (p.Thr151Ala) | |
9 | g.130458581A>T | CA375225350 | ASS1 | c.355A>T (p.Thr119Ser) n.64A>T c.469A>T (p.Thr157Ser) c.451A>T (p.Thr151Ser) | |
9 | g.130458582C>A | CA375225353 | ASS1 | c.356C>A (p.Thr119Lys) n.65C>A c.470C>A (p.Thr157Lys) c.452C>A (p.Thr151Lys) | |
9 | g.130458582C= | CA1881250020 | ASS1 | c.356C= (p.Thr119=) n.65C= c.470C= (p.Thr157=) c.452C= (p.Thr151=) | |
9 | g.130458582C>G | CA375225352 | ASS1 | c.356C>G (p.Thr119Arg) n.65C>G c.470C>G (p.Thr157Arg) c.452C>G (p.Thr151Arg) | |
9 | g.130458582C>T | CA375225351 | ASS1 | c.356C>T (p.Thr119Ile) n.65C>T c.470C>T (p.Thr157Ile) c.452C>T (p.Thr151Ile) | ClinVar dbSNP gnomAD v4 |
9 | g.130458583A>C | CA467388655 | ASS1 | c.357A>C (p.Thr119=) n.66A>C c.471A>C (p.Thr157=) c.453A>C (p.Thr151=) | |
9 | g.130458583A>G | CA467388654 | ASS1 | c.357A>G (p.Thr119=) n.66A>G c.471A>G (p.Thr157=) c.453A>G (p.Thr151=) | |
9 | g.130458583A>T | CA467388653 | ASS1 | c.357A>T (p.Thr119=) n.66A>T c.471A>T (p.Thr157=) c.453A>T (p.Thr151=) | |
9 | g.130458584G>A | CA375225354 | ASS1 | c.358G>A (p.Gly120Arg) n.67G>A c.472G>A (p.Gly158Arg) c.454G>A (p.Gly152Arg) | |
9 | g.130458584G>C | CA375225355 | ASS1 | c.358G>C (p.Gly120Arg) n.67G>C c.472G>C (p.Gly158Arg) c.454G>C (p.Gly152Arg) | |
9 | g.130458584G>T | CA375225356 | ASS1 | c.358G>T (p.Gly120Ter) n.67G>T c.472G>T (p.Gly158Ter) c.454G>T (p.Gly152Ter) | |
9 | g.130458585G>A | CA375225357 | ASS1 | c.359G>A (p.Gly120Glu) n.68G>A c.473G>A (p.Gly158Glu) c.455G>A (p.Gly152Glu) | gnomAD v4 |
9 | g.130458585G>C | CA375225358 | ASS1 | c.359G>C (p.Gly120Ala) n.68G>C c.473G>C (p.Gly158Ala) c.455G>C (p.Gly152Ala) | |
9 | g.130458585G>T | CA375225359 | ASS1 | c.359G>T (p.Gly120Val) n.68G>T c.473G>T (p.Gly158Val) c.455G>T (p.Gly152Val) | |
9 | g.130458586A= | CA1881250021 | ASS1 | c.360A= (p.Gly120=) n.69A= c.474A= (p.Gly158=) c.456A= (p.Gly152=) | |
9 | g.130458586A>C | CA467388659 | ASS1 | c.360A>C (p.Gly120=) n.69A>C c.474A>C (p.Gly158=) c.456A>C (p.Gly152=) | |
9 | g.130458586A>G | CA467388660 | ASS1 | c.360A>G (p.Gly120=) n.69A>G c.474A>G (p.Gly158=) c.456A>G (p.Gly152=) | ClinVar dbSNP gnomAD v4 |
9 | g.130458586A>T | CA467388661 | ASS1 | c.360A>T (p.Gly120=) n.69A>T c.474A>T (p.Gly158=) c.456A>T (p.Gly152=) | |
9 | g.130458587A>C | CA375225362 | ASS1 | c.361A>C (p.Lys121Gln) n.70A>C c.475A>C (p.Lys159Gln) c.457A>C (p.Lys153Gln) | |
9 | g.130458587A>G | CA375225360 | ASS1 | c.361A>G (p.Lys121Glu) n.70A>G c.475A>G (p.Lys159Glu) c.457A>G (p.Lys153Glu) | |
9 | g.130458587A>T | CA375225361 | ASS1 | c.361A>T (p.Lys121Ter) n.70A>T c.475A>T (p.Lys159Ter) c.457A>T (p.Lys153Ter) | |
9 | g.130458588A>C | CA375225363 | ASS1 | c.362A>C (p.Lys121Thr) n.71A>C c.476A>C (p.Lys159Thr) c.458A>C (p.Lys153Thr) | |
9 | g.130458588A>G | CA375225364 | ASS1 | c.362A>G (p.Lys121Arg) n.71A>G c.476A>G (p.Lys159Arg) c.458A>G (p.Lys153Arg) | |
9 | g.130458588A>T | CA375225365 | ASS1 | c.362A>T (p.Lys121Met) n.71A>T c.476A>T (p.Lys159Met) c.458A>T (p.Lys153Met) | |
9 | g.130458589G>A | CA467388663 | ASS1 | c.363G>A (p.Lys121=) n.72G>A c.477G>A (p.Lys159=) c.459G>A (p.Lys153=) | ClinVar dbSNP |
9 | g.130458589G>C | CA375225366 | ASS1 | c.363G>C (p.Lys121Asn) n.72G>C c.477G>C (p.Lys159Asn) c.459G>C (p.Lys153Asn) | |
9 | g.130458589G>T | CA375225367 | ASS1 | c.363G>T (p.Lys121Asn) n.72G>T c.477G>T (p.Lys159Asn) c.459G>T (p.Lys153Asn) |