| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130458483G>A | CA5283210 | ASS1 | c.257G>A (p.Arg86His) c.371G>A (p.Arg124His) c.353G>A (p.Arg118His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130458483G>C | CA375225157 | ASS1 | c.257G>C (p.Arg86Pro) c.371G>C (p.Arg124Pro) c.353G>C (p.Arg118Pro) | |
| 9 | g.130458483G= | CA1881249966 | ASS1 | c.257G= (p.Arg86=) c.371G= (p.Arg124=) c.353G= (p.Arg118=) | |
| 9 | g.130458483G>T | CA375225156 | ASS1 | c.257G>T (p.Arg86Leu) c.371G>T (p.Arg124Leu) c.353G>T (p.Arg118Leu) | |
| 9 | g.130458484C>A | CA467388507 | ASS1 | c.258C>A (p.Arg86=) c.372C>A (p.Arg124=) c.354C>A (p.Arg118=) | dbSNP COSMIC |
| 9 | g.130458484C= | CA1881249967 | ASS1 | c.258C= (p.Arg86=) c.372C= (p.Arg124=) c.354C= (p.Arg118=) | |
| 9 | g.130458484C>G | CA467388508 | ASS1 | c.258C>G (p.Arg86=) c.372C>G (p.Arg124=) c.354C>G (p.Arg118=) | |
| 9 | g.130458484C>T | CA467388509 | ASS1 | c.258C>T (p.Arg86=) c.372C>T (p.Arg124=) c.354C>T (p.Arg118=) | ClinVar gnomAD v4 |
| 9 | g.130458485T>A | CA375225158 | ASS1 | c.259T>A (p.Tyr87Asn) c.373T>A (p.Tyr125Asn) c.355T>A (p.Tyr119Asn) | |
| 9 | g.130458485T>C | CA375225159 | ASS1 | c.259T>C (p.Tyr87His) c.373T>C (p.Tyr125His) c.355T>C (p.Tyr119His) | |
| 9 | g.130458485T>G | CA375225160 | ASS1 | c.259T>G (p.Tyr87Asp) c.373T>G (p.Tyr125Asp) c.355T>G (p.Tyr119Asp) | |
| 9 | g.130458486A= | CA1881249968 | ASS1 | c.260A= (p.Tyr87=) c.374A= (p.Tyr125=) c.356A= (p.Tyr119=) | |
| 9 | g.130458486A>C | CA375225161 | ASS1 | c.260A>C (p.Tyr87Ser) c.374A>C (p.Tyr125Ser) c.356A>C (p.Tyr119Ser) | |
| 9 | g.130458486A>G | CA375225162 | ASS1 | c.260A>G (p.Tyr87Cys) c.374A>G (p.Tyr125Cys) c.356A>G (p.Tyr119Cys) | |
| 9 | g.130458486A>T | CA5283211 | ASS1 | c.260A>T (p.Tyr87Phe) c.374A>T (p.Tyr125Phe) c.356A>T (p.Tyr119Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130458486_130458487delinsAC | CA1881249969 | ASS1 | c.260_261delinsAC (p.Tyr87=) c.374_375delinsAC (p.Tyr125=) c.356_357delinsAC (p.Tyr119=) | |
| 9 | g.130458487C>A | CA375225163 | ASS1 | c.261C>A (p.Tyr87Ter) c.375C>A (p.Tyr125Ter) c.357C>A (p.Tyr119Ter) | |
| 9 | g.130458487C= | CA1881249970 | ASS1 | c.261C= (p.Tyr87=) c.375C= (p.Tyr125=) c.357C= (p.Tyr119=) | |
| 9 | g.130458487C>G | CA375225164 | ASS1 | c.261C>G (p.Tyr87Ter) c.375C>G (p.Tyr125Ter) c.357C>G (p.Tyr119Ter) | |
| 9 | g.130458487C>T | CA5283212 | ASS1 | c.261C>T (p.Tyr87=) c.375C>T (p.Tyr125=) c.357C>T (p.Tyr119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130458488del | CA915947573 | ASS1 | c.262del (p.Leu88SerfsTer?) c.376del (p.Leu126SerfsTer?) c.358del (p.Leu120SerfsTer?) | ClinVar dbSNP |
| 9 | g.130458488C>A | CA200608041 | ASS1 | c.262C>A (p.Leu88Ile) c.376C>A (p.Leu126Ile) c.358C>A (p.Leu120Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130458488C= | CA1881249971 | ASS1 | c.262C= (p.Leu88=) c.376C= (p.Leu126=) c.358C= (p.Leu120=) | |
| 9 | g.130458488C>G | CA375225165 | ASS1 | c.262C>G (p.Leu88Val) c.376C>G (p.Leu126Val) c.358C>G (p.Leu120Val) | |
| 9 | g.130458488C>T | CA375225166 | ASS1 | c.262C>T (p.Leu88Phe) c.376C>T (p.Leu126Phe) c.358C>T (p.Leu120Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 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) |