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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60822527A= | CA1788144473 | CHD7 | c.2982A= (p.Glu994=) c.1717-39702A= (n.1717-39702A=) c.969A= (p.Glu323=) c.519A= (p.Glu173=) | |
| 8 | g.60822527A>C | CA371309042 | CHD7 | c.2982A>C (p.Glu994Asp) c.1717-39702A>C (n.1717-39702A>C) c.969A>C (p.Glu323Asp) c.519A>C (p.Glu173Asp) | |
| 8 | g.60822527A>G | CA461104317 | CHD7 | c.2982A>G (p.Glu994=) c.1717-39702A>G (n.1717-39702A>G) c.969A>G (p.Glu323=) c.519A>G (p.Glu173=) | dbSNP gnomAD v4 |
| 8 | g.60822527A>T | CA371309043 | CHD7 | c.2982A>T (p.Glu994Asp) c.1717-39702A>T (n.1717-39702A>T) c.969A>T (p.Glu323Asp) c.519A>T (p.Glu173Asp) | |
| 8 | g.60822528A>C | CA371309044 | CHD7 | c.2983A>C (p.Met995Leu) c.1717-39701A>C (n.1717-39701A>C) c.970A>C (p.Met324Leu) c.520A>C (p.Met174Leu) | |
| 8 | g.60822528A>G | CA371309045 | CHD7 | c.2983A>G (p.Met995Val) c.1717-39701A>G (n.1717-39701A>G) c.970A>G (p.Met324Val) c.520A>G (p.Met174Val) | |
| 8 | g.60822528A>T | CA371309046 | CHD7 | c.2983A>T (p.Met995Leu) c.1717-39701A>T (n.1717-39701A>T) c.970A>T (p.Met324Leu) c.520A>T (p.Met174Leu) | |
| 8 | g.60822529T>A | CA371309049 | CHD7 | c.2984T>A (p.Met995Lys) c.1717-39700T>A (n.1717-39700T>A) c.971T>A (p.Met324Lys) c.521T>A (p.Met174Lys) | |
| 8 | g.60822529T>C | CA371309053 | CHD7 | c.2984T>C (p.Met995Thr) c.1717-39700T>C (n.1717-39700T>C) c.971T>C (p.Met324Thr) c.521T>C (p.Met174Thr) | |
| 8 | g.60822529T>G | CA371309056 | CHD7 | c.2984T>G (p.Met995Arg) c.1717-39700T>G (n.1717-39700T>G) c.971T>G (p.Met324Arg) c.521T>G (p.Met174Arg) | |
| 8 | g.60822530G>A | CA371309070 | CHD7 | c.2985G>A (p.Met995Ile) c.1717-39699G>A (n.1717-39699G>A) c.972G>A (p.Met324Ile) c.522G>A (p.Met174Ile) | |
| 8 | g.60822530G>C | CA371309068 | CHD7 | c.2985G>C (p.Met995Ile) c.1717-39699G>C (n.1717-39699G>C) c.972G>C (p.Met324Ile) c.522G>C (p.Met174Ile) | |
| 8 | g.60822530G>T | CA371309067 | CHD7 | c.2985G>T (p.Met995Ile) c.1717-39699G>T (n.1717-39699G>T) c.972G>T (p.Met324Ile) c.522G>T (p.Met174Ile) | |
| 8 | g.60822531G>A | CA371309072 | CHD7 | c.2986G>A (p.Gly996Ser) c.1717-39698G>A (n.1717-39698G>A) c.973G>A (p.Gly325Ser) c.523G>A (p.Gly175Ser) | ClinVar dbSNP |
| 8 | g.60822531G>C | CA371309084 | CHD7 | c.2986G>C (p.Gly996Arg) c.1717-39698G>C (n.1717-39698G>C) c.973G>C (p.Gly325Arg) c.523G>C (p.Gly175Arg) | |
| 8 | g.60822531G= | CA1788144480 | CHD7 | c.2986G= (p.Gly996=) c.1717-39698G= (n.1717-39698G=) c.973G= (p.Gly325=) c.523G= (p.Gly175=) | |
| 8 | g.60822531G>T | CA371309081 | CHD7 | c.2986G>T (p.Gly996Cys) c.1717-39698G>T (n.1717-39698G>T) c.973G>T (p.Gly325Cys) c.523G>T (p.Gly175Cys) | |
| 8 | g.60822532G>A | CA4759876 | CHD7 | c.2987G>A (p.Gly996Asp) c.1717-39697G>A (n.1717-39697G>A) c.974G>A (p.Gly325Asp) c.524G>A (p.Gly175Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822532G>C | CA371309091 | CHD7 | c.2987G>C (p.Gly996Ala) c.1717-39697G>C (n.1717-39697G>C) c.974G>C (p.Gly325Ala) c.524G>C (p.Gly175Ala) | |
| 8 | g.60822532G= | CA1788144485 | CHD7 | c.2987G= (p.Gly996=) c.1717-39697G= (n.1717-39697G=) c.974G= (p.Gly325=) c.524G= (p.Gly175=) | |
| 8 | g.60822532G>T | CA371309092 | CHD7 | c.2987G>T (p.Gly996Val) c.1717-39697G>T (n.1717-39697G>T) c.974G>T (p.Gly325Val) c.524G>T (p.Gly175Val) | |
| 8 | g.60822532_60822533delinsGT | CA1788144488 | CHD7 | c.2987_2988delinsGT (p.Gly996=) c.1717-39697_1717-39696delinsGT (n.1717-39697_1717-39696delinsGT) c.974_975delinsGT (p.Gly325=) c.524_525delinsGT (p.Gly175=) | |
| 8 | g.60822533T>A | CA461104320 | CHD7 | c.2988T>A (p.Gly996=) c.1717-39696T>A (n.1717-39696T>A) c.975T>A (p.Gly325=) c.525T>A (p.Gly175=) | |
| 8 | g.60822533T>C | CA461104321 | CHD7 | c.2988T>C (p.Gly996=) c.1717-39696T>C (n.1717-39696T>C) c.975T>C (p.Gly325=) c.525T>C (p.Gly175=) | gnomAD v4 |
| 8 | g.60822533T>G | CA461104322 | CHD7 | c.2988T>G (p.Gly996=) c.1717-39696T>G (n.1717-39696T>G) c.975T>G (p.Gly325=) c.525T>G (p.Gly175=) | |
| 8 | g.60822535del | CA658797099 | CHD7 | c.2990del (p.Leu997TrpfsTer16) c.1717-39694del (n.1717-39694del) c.977del (p.Leu326TrpfsTer16) c.527del (p.Leu176TrpfsTer16) | ClinVar dbSNP |
| 8 | g.60822534T>A | CA371309095 | CHD7 | c.2989T>A (p.Leu997Met) c.1717-39695T>A (n.1717-39695T>A) c.976T>A (p.Leu326Met) c.526T>A (p.Leu176Met) | |
| 8 | g.60822534T>C | CA461104325 | CHD7 | c.2989T>C (p.Leu997=) c.1717-39695T>C (n.1717-39695T>C) c.976T>C (p.Leu326=) c.526T>C (p.Leu176=) | gnomAD v4 |
| 8 | g.60822534T>G | CA371309096 | CHD7 | c.2989T>G (p.Leu997Val) c.1717-39695T>G (n.1717-39695T>G) c.976T>G (p.Leu326Val) c.526T>G (p.Leu176Val) | |
| 8 | g.60822535T>A | CA371309097 | CHD7 | c.2990T>A (p.Leu997Ter) c.1717-39694T>A (n.1717-39694T>A) c.977T>A (p.Leu326Ter) c.527T>A (p.Leu176Ter) | |
| 8 | g.60822535T>C | CA371309098 | CHD7 | c.2990T>C (p.Leu997Ser) c.1717-39694T>C (n.1717-39694T>C) c.977T>C (p.Leu326Ser) c.527T>C (p.Leu176Ser) | ClinVar dbSNP |
| 8 | g.60822535T>G | CA371309101 | CHD7 | c.2990T>G (p.Leu997Trp) c.1717-39694T>G (n.1717-39694T>G) c.977T>G (p.Leu326Trp) c.527T>G (p.Leu176Trp) | |
| 8 | g.60822536G>A | CA461104326 | CHD7 | c.2991G>A (p.Leu997=) c.1717-39693G>A (n.1717-39693G>A) c.978G>A (p.Leu326=) c.528G>A (p.Leu176=) | |
| 8 | g.60822536G>C | CA371309104 | CHD7 | c.2991G>C (p.Leu997Phe) c.1717-39693G>C (n.1717-39693G>C) c.978G>C (p.Leu326Phe) c.528G>C (p.Leu176Phe) | ClinVar dbSNP |
| 8 | g.60822536G= | CA1788144503 | CHD7 | c.2991G= (p.Leu997=) c.1717-39693G= (n.1717-39693G=) c.978G= (p.Leu326=) c.528G= (p.Leu176=) | |
| 8 | g.60822536G>T | CA371309110 | CHD7 | c.2991G>T (p.Leu997Phe) c.1717-39693G>T (n.1717-39693G>T) c.978G>T (p.Leu326Phe) c.528G>T (p.Leu176Phe) | |
| 8 | g.60822537G>A | CA371309113 | CHD7 | c.2992G>A (p.Gly998Arg) c.1717-39692G>A (n.1717-39692G>A) c.979G>A (p.Gly327Arg) c.529G>A (p.Gly177Arg) | |
| 8 | g.60822537G>C | CA371309115 | CHD7 | c.2992G>C (p.Gly998Arg) c.1717-39692G>C (n.1717-39692G>C) c.979G>C (p.Gly327Arg) c.529G>C (p.Gly177Arg) | |
| 8 | g.60822537G>T | CA371309117 | CHD7 | c.2992G>T (p.Gly998Ter) c.1717-39692G>T (n.1717-39692G>T) c.979G>T (p.Gly327Ter) c.529G>T (p.Gly177Ter) | |
| 8 | g.60822538G>A | CA371309121 | CHD7 | c.2993G>A (p.Gly998Glu) c.1717-39691G>A (n.1717-39691G>A) c.980G>A (p.Gly327Glu) c.530G>A (p.Gly177Glu) | |
| 8 | g.60822538G>C | CA371309120 | CHD7 | c.2993G>C (p.Gly998Ala) c.1717-39691G>C (n.1717-39691G>C) c.980G>C (p.Gly327Ala) c.530G>C (p.Gly177Ala) | |
| 8 | g.60822538G>T | CA371309119 | CHD7 | c.2993G>T (p.Gly998Val) c.1717-39691G>T (n.1717-39691G>T) c.980G>T (p.Gly327Val) c.530G>T (p.Gly177Val) | |
| 8 | g.60822539A>C | CA461104327 | CHD7 | c.2994A>C (p.Gly998=) c.1717-39690A>C (n.1717-39690A>C) c.981A>C (p.Gly327=) c.531A>C (p.Gly177=) | |
| 8 | g.60822539A>G | CA461104328 | CHD7 | c.2994A>G (p.Gly998=) c.1717-39690A>G (n.1717-39690A>G) c.981A>G (p.Gly327=) c.531A>G (p.Gly177=) | |
| 8 | g.60822539A>T | CA461104329 | CHD7 | c.2994A>T (p.Gly998=) c.1717-39690A>T (n.1717-39690A>T) c.981A>T (p.Gly327=) c.531A>T (p.Gly177=) | |
| 8 | g.60822540A>C | CA371309123 | CHD7 | c.2995A>C (p.Lys999Gln) c.1717-39689A>C (n.1717-39689A>C) c.982A>C (p.Lys328Gln) c.532A>C (p.Lys178Gln) | |
| 8 | g.60822540A>G | CA371309127 | CHD7 | c.2995A>G (p.Lys999Glu) c.1717-39689A>G (n.1717-39689A>G) c.982A>G (p.Lys328Glu) c.532A>G (p.Lys178Glu) | |
| 8 | g.60822540A>T | CA371309130 | CHD7 | c.2995A>T (p.Lys999Ter) c.1717-39689A>T (n.1717-39689A>T) c.982A>T (p.Lys328Ter) c.532A>T (p.Lys178Ter) | |
| 8 | g.60822541A>C | CA371309141 | CHD7 | c.2996A>C (p.Lys999Thr) c.1717-39688A>C (n.1717-39688A>C) c.983A>C (p.Lys328Thr) c.533A>C (p.Lys178Thr) | |
| 8 | g.60822541A>G | CA371309144 | CHD7 | c.2996A>G (p.Lys999Arg) c.1717-39688A>G (n.1717-39688A>G) c.983A>G (p.Lys328Arg) c.533A>G (p.Lys178Arg) | gnomAD v4 |
| 8 | g.60822541A>T | CA371309145 | CHD7 | c.2996A>T (p.Lys999Ile) c.1717-39688A>T (n.1717-39688A>T) c.983A>T (p.Lys328Ile) c.533A>T (p.Lys178Ile) | |
| 8 | g.60822542A>C | CA371309147 | CHD7 | c.2997A>C (p.Lys999Asn) c.1717-39687A>C (n.1717-39687A>C) c.984A>C (p.Lys328Asn) c.534A>C (p.Lys178Asn) | |
| 8 | g.60822542A>G | CA461104331 | CHD7 | c.2997A>G (p.Lys999=) c.1717-39687A>G (n.1717-39687A>G) c.984A>G (p.Lys328=) c.534A>G (p.Lys178=) | |
| 8 | g.60822542A>T | CA371309150 | CHD7 | c.2997A>T (p.Lys999Asn) c.1717-39687A>T (n.1717-39687A>T) c.984A>T (p.Lys328Asn) c.534A>T (p.Lys178Asn) | |
| 8 | g.60822543A= | CA1788144506 | CHD7 | c.2998A= (p.Thr1000=) c.1717-39686A= (n.1717-39686A=) c.985A= (p.Thr329=) c.535A= (p.Thr179=) | |
| 8 | g.60822543A>C | CA371309152 | CHD7 | c.2998A>C (p.Thr1000Pro) c.1717-39686A>C (n.1717-39686A>C) c.985A>C (p.Thr329Pro) c.535A>C (p.Thr179Pro) | gnomAD v4 |
| 8 | g.60822543A>G | CA371309153 | CHD7 | c.2998A>G (p.Thr1000Ala) c.1717-39686A>G (n.1717-39686A>G) c.985A>G (p.Thr329Ala) c.535A>G (p.Thr179Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822543A>T | CA371309154 | CHD7 | c.2998A>T (p.Thr1000Ser) c.1717-39686A>T (n.1717-39686A>T) c.985A>T (p.Thr329Ser) c.535A>T (p.Thr179Ser) | |
| 8 | g.60822544C>A | CA371309156 | CHD7 | c.2999C>A (p.Thr1000Asn) c.1717-39685C>A (n.1717-39685C>A) c.986C>A (p.Thr329Asn) c.536C>A (p.Thr179Asn) | |
| 8 | g.60822544C>G | CA371309157 | CHD7 | c.2999C>G (p.Thr1000Ser) c.1717-39685C>G (n.1717-39685C>G) c.986C>G (p.Thr329Ser) c.536C>G (p.Thr179Ser) | |
| 8 | g.60822544C>T | CA371309159 | CHD7 | c.2999C>T (p.Thr1000Ile) c.1717-39685C>T (n.1717-39685C>T) c.986C>T (p.Thr329Ile) c.536C>T (p.Thr179Ile) | |
| 8 | g.60822545T>A | CA461104337 | CHD7 | c.3000T>A (p.Thr1000=) c.1717-39684T>A (n.1717-39684T>A) c.987T>A (p.Thr329=) c.537T>A (p.Thr179=) | |
| 8 | g.60822545T>C | CA461104338 | CHD7 | c.3000T>C (p.Thr1000=) c.1717-39684T>C (n.1717-39684T>C) c.987T>C (p.Thr329=) c.537T>C (p.Thr179=) | |
| 8 | g.60822545T>G | CA461104335 | CHD7 | c.3000T>G (p.Thr1000=) c.1717-39684T>G (n.1717-39684T>G) c.987T>G (p.Thr329=) c.537T>G (p.Thr179=) | |
| 8 | g.60822546A= | CA1788144510 | CHD7 | c.3001A= (p.Ile1001=) c.1717-39683A= (n.1717-39683A=) c.988A= (p.Ile330=) c.538A= (p.Ile180=) | |
| 8 | g.60822546A>C | CA371309167 | CHD7 | c.3001A>C (p.Ile1001Leu) c.1717-39683A>C (n.1717-39683A>C) c.988A>C (p.Ile330Leu) c.538A>C (p.Ile180Leu) | ClinVar |
| 8 | g.60822546A>G | CA4759877 | CHD7 | c.3001A>G (p.Ile1001Val) c.1717-39683A>G (n.1717-39683A>G) c.988A>G (p.Ile330Val) c.538A>G (p.Ile180Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822546A>T | CA371309161 | CHD7 | c.3001A>T (p.Ile1001Phe) c.1717-39683A>T (n.1717-39683A>T) c.988A>T (p.Ile330Phe) c.538A>T (p.Ile180Phe) | |
| 8 | g.60822547T>A | CA371309171 | CHD7 | c.3002T>A (p.Ile1001Asn) c.1717-39682T>A (n.1717-39682T>A) c.989T>A (p.Ile330Asn) c.539T>A (p.Ile180Asn) | |
| 8 | g.60822547T>C | CA371309175 | CHD7 | c.3002T>C (p.Ile1001Thr) c.1717-39682T>C (n.1717-39682T>C) c.989T>C (p.Ile330Thr) c.539T>C (p.Ile180Thr) | |
| 8 | g.60822547T>G | CA371309177 | CHD7 | c.3002T>G (p.Ile1001Ser) c.1717-39682T>G (n.1717-39682T>G) c.989T>G (p.Ile330Ser) c.539T>G (p.Ile180Ser) | |
| 8 | g.60822548C>A | CA461104342 | CHD7 | c.3003C>A (p.Ile1001=) c.1717-39681C>A (n.1717-39681C>A) c.990C>A (p.Ile330=) c.540C>A (p.Ile180=) | |
| 8 | g.60822548C= | CA1788144515 | CHD7 | c.3003C= (p.Ile1001=) c.1717-39681C= (n.1717-39681C=) c.990C= (p.Ile330=) c.540C= (p.Ile180=) | |
| 8 | g.60822548C>G | CA371309179 | CHD7 | c.3003C>G (p.Ile1001Met) c.1717-39681C>G (n.1717-39681C>G) c.990C>G (p.Ile330Met) c.540C>G (p.Ile180Met) | |
| 8 | g.60822548C>T | CA461104344 | CHD7 | c.3003C>T (p.Ile1001=) c.1717-39681C>T (n.1717-39681C>T) c.990C>T (p.Ile330=) c.540C>T (p.Ile180=) | dbSNP |
| 8 | g.60822549C>A | CA371309180 | CHD7 | c.3004C>A (p.Gln1002Lys) c.1717-39680C>A (n.1717-39680C>A) c.991C>A (p.Gln331Lys) c.541C>A (p.Gln181Lys) | |
| 8 | g.60822549C= | CA1788144519 | CHD7 | c.3004C= (p.Gln1002=) c.1717-39680C= (n.1717-39680C=) c.991C= (p.Gln331=) c.541C= (p.Gln181=) | |
| 8 | g.60822549C>G | CA371309181 | CHD7 | c.3004C>G (p.Gln1002Glu) c.1717-39680C>G (n.1717-39680C>G) c.991C>G (p.Gln331Glu) c.541C>G (p.Gln181Glu) | dbSNP |
| 8 | g.60822549C>T | CA371309182 | CHD7 | c.3004C>T (p.Gln1002Ter) c.1717-39680C>T (n.1717-39680C>T) c.991C>T (p.Gln331Ter) c.541C>T (p.Gln181Ter) | |
| 8 | g.60822550A= | CA1788144522 | CHD7 | c.3005A= (p.Gln1002=) c.1717-39679A= (n.1717-39679A=) c.992A= (p.Gln331=) c.542A= (p.Gln181=) | |
| 8 | g.60822550A>C | CA371309185 | CHD7 | c.3005A>C (p.Gln1002Pro) c.1717-39679A>C (n.1717-39679A>C) c.992A>C (p.Gln331Pro) c.542A>C (p.Gln181Pro) | |
| 8 | g.60822550A>G | CA371309187 | CHD7 | c.3005A>G (p.Gln1002Arg) c.1717-39679A>G (n.1717-39679A>G) c.992A>G (p.Gln331Arg) c.542A>G (p.Gln181Arg) | |
| 8 | g.60822550A>T | CA371309189 | CHD7 | c.3005A>T (p.Gln1002Leu) c.1717-39679A>T (n.1717-39679A>T) c.992A>T (p.Gln331Leu) c.542A>T (p.Gln181Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822551G>A | CA461104347 | CHD7 | c.3006G>A (p.Gln1002=) c.1717-39678G>A (n.1717-39678G>A) c.993G>A (p.Gln331=) c.543G>A (p.Gln181=) | |
| 8 | g.60822551G>C | CA371309197 | CHD7 | c.3006G>C (p.Gln1002His) c.1717-39678G>C (n.1717-39678G>C) c.993G>C (p.Gln331His) c.543G>C (p.Gln181His) | |
| 8 | g.60822551G>T | CA371309198 | CHD7 | c.3006G>T (p.Gln1002His) c.1717-39678G>T (n.1717-39678G>T) c.993G>T (p.Gln331His) c.543G>T (p.Gln181His) | |
| 8 | g.60822552T>A | CA371309205 | CHD7 | c.3007T>A (p.Ser1003Thr) c.1717-39677T>A (n.1717-39677T>A) c.994T>A (p.Ser332Thr) c.544T>A (p.Ser182Thr) | ClinVar |
| 8 | g.60822552T>C | CA371309201 | CHD7 | c.3007T>C (p.Ser1003Pro) c.1717-39677T>C (n.1717-39677T>C) c.994T>C (p.Ser332Pro) c.544T>C (p.Ser182Pro) | |
| 8 | g.60822552T>G | CA371309199 | CHD7 | c.3007T>G (p.Ser1003Ala) c.1717-39677T>G (n.1717-39677T>G) c.994T>G (p.Ser332Ala) c.544T>G (p.Ser182Ala) | |
| 8 | g.60822553C>A | CA371309207 | CHD7 | c.3008C>A (p.Ser1003Tyr) c.1717-39676C>A (n.1717-39676C>A) c.995C>A (p.Ser332Tyr) c.545C>A (p.Ser182Tyr) | |
| 8 | g.60822553C>G | CA371309210 | CHD7 | c.3008C>G (p.Ser1003Cys) c.1717-39676C>G (n.1717-39676C>G) c.995C>G (p.Ser332Cys) c.545C>G (p.Ser182Cys) | |
| 8 | g.60822553C>T | CA371309215 | CHD7 | c.3008C>T (p.Ser1003Phe) c.1717-39676C>T (n.1717-39676C>T) c.995C>T (p.Ser332Phe) c.545C>T (p.Ser182Phe) | COSMIC |
| 8 | g.60822554C>A | CA461104351 | CHD7 | c.3009C>A (p.Ser1003=) c.1717-39675C>A (n.1717-39675C>A) c.996C>A (p.Ser332=) c.546C>A (p.Ser182=) | |
| 8 | g.60822554C>G | CA461104352 | CHD7 | c.3009C>G (p.Ser1003=) c.1717-39675C>G (n.1717-39675C>G) c.996C>G (p.Ser332=) c.546C>G (p.Ser182=) | |
| 8 | g.60822554C>T | CA461104354 | CHD7 | c.3009C>T (p.Ser1003=) c.1717-39675C>T (n.1717-39675C>T) c.996C>T (p.Ser332=) c.546C>T (p.Ser182=) | |
| 8 | g.60822555A>C | CA371309218 | CHD7 | c.3010A>C (p.Ile1004Leu) c.1717-39674A>C (n.1717-39674A>C) c.997A>C (p.Ile333Leu) c.547A>C (p.Ile183Leu) | |
| 8 | g.60822555A>G | CA371309221 | CHD7 | c.3010A>G (p.Ile1004Val) c.1717-39674A>G (n.1717-39674A>G) c.997A>G (p.Ile333Val) c.547A>G (p.Ile183Val) | gnomAD v4 |
| 8 | g.60822555A>T | CA371309222 | CHD7 | c.3010A>T (p.Ile1004Phe) c.1717-39674A>T (n.1717-39674A>T) c.997A>T (p.Ile333Phe) c.547A>T (p.Ile183Phe) | |
| 8 | g.60822556T>A | CA371309223 | CHD7 | c.3011T>A (p.Ile1004Asn) c.1717-39673T>A (n.1717-39673T>A) c.998T>A (p.Ile333Asn) c.548T>A (p.Ile183Asn) | |
| 8 | g.60822556T>C | CA371309224 | CHD7 | c.3011T>C (p.Ile1004Thr) c.1717-39673T>C (n.1717-39673T>C) c.998T>C (p.Ile333Thr) c.548T>C (p.Ile183Thr) | |
| 8 | g.60822556T>G | CA371309225 | CHD7 | c.3011T>G (p.Ile1004Ser) c.1717-39673T>G (n.1717-39673T>G) c.998T>G (p.Ile333Ser) c.548T>G (p.Ile183Ser) | |
| 8 | g.60822557T>A | CA461104359 | CHD7 | c.3012T>A (p.Ile1004=) c.1717-39672T>A (n.1717-39672T>A) c.999T>A (p.Ile333=) c.549T>A (p.Ile183=) | |
| 8 | g.60822557T>C | CA461104355 | CHD7 | c.3012T>C (p.Ile1004=) c.1717-39672T>C (n.1717-39672T>C) c.999T>C (p.Ile333=) c.549T>C (p.Ile183=) | |
| 8 | g.60822557T>G | CA371309227 | CHD7 | c.3012T>G (p.Ile1004Met) c.1717-39672T>G (n.1717-39672T>G) c.999T>G (p.Ile333Met) c.549T>G (p.Ile183Met) | |
| 8 | g.60822558A= | CA1788144524 | CHD7 | c.3013A= (p.Thr1005=) c.1717-39671A= (n.1717-39671A=) c.1000A= (p.Thr334=) c.550A= (p.Thr184=) | |
| 8 | g.60822558A>C | CA371309231 | CHD7 | c.3013A>C (p.Thr1005Pro) c.1717-39671A>C (n.1717-39671A>C) c.1000A>C (p.Thr334Pro) c.550A>C (p.Thr184Pro) | |
| 8 | g.60822558A>G | CA371309232 | CHD7 | c.3013A>G (p.Thr1005Ala) c.1717-39671A>G (n.1717-39671A>G) c.1000A>G (p.Thr334Ala) c.550A>G (p.Thr184Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822558A>T | CA371309235 | CHD7 | c.3013A>T (p.Thr1005Ser) c.1717-39671A>T (n.1717-39671A>T) c.1000A>T (p.Thr334Ser) c.550A>T (p.Thr184Ser) | |
| 8 | g.60822559C>A | CA371309238 | CHD7 | c.3014C>A (p.Thr1005Lys) c.1717-39670C>A (n.1717-39670C>A) c.1001C>A (p.Thr334Lys) c.551C>A (p.Thr184Lys) | |
| 8 | g.60822559C>G | CA371309239 | CHD7 | c.3014C>G (p.Thr1005Arg) c.1717-39670C>G (n.1717-39670C>G) c.1001C>G (p.Thr334Arg) c.551C>G (p.Thr184Arg) | COSMIC |
| 8 | g.60822559C>T | CA371309237 | CHD7 | c.3014C>T (p.Thr1005Ile) c.1717-39670C>T (n.1717-39670C>T) c.1001C>T (p.Thr334Ile) c.551C>T (p.Thr184Ile) | |
| 8 | g.60822560A>C | CA461104365 | CHD7 | c.3015A>C (p.Thr1005=) c.1717-39669A>C (n.1717-39669A>C) c.1002A>C (p.Thr334=) c.552A>C (p.Thr184=) | |
| 8 | g.60822560A>G | CA461104367 | CHD7 | c.3015A>G (p.Thr1005=) c.1717-39669A>G (n.1717-39669A>G) c.1002A>G (p.Thr334=) c.552A>G (p.Thr184=) | |
| 8 | g.60822560A>T | CA461104370 | CHD7 | c.3015A>T (p.Thr1005=) c.1717-39669A>T (n.1717-39669A>T) c.1002A>T (p.Thr334=) c.552A>T (p.Thr184=) | |
| 8 | g.60822561T>A | CA371309240 | CHD7 | c.3016T>A (p.Phe1006Ile) c.1717-39668T>A (n.1717-39668T>A) c.1003T>A (p.Phe335Ile) c.553T>A (p.Phe185Ile) | |
| 8 | g.60822561T>C | CA371309244 | CHD7 | c.3016T>C (p.Phe1006Leu) c.1717-39668T>C (n.1717-39668T>C) c.1003T>C (p.Phe335Leu) c.553T>C (p.Phe185Leu) | |
| 8 | g.60822561T>G | CA371309241 | CHD7 | c.3016T>G (p.Phe1006Val) c.1717-39668T>G (n.1717-39668T>G) c.1003T>G (p.Phe335Val) c.553T>G (p.Phe185Val) | |
| 8 | g.60822562T>A | CA371309247 | CHD7 | c.3017T>A (p.Phe1006Tyr) c.1717-39667T>A (n.1717-39667T>A) c.1004T>A (p.Phe335Tyr) c.554T>A (p.Phe185Tyr) | |
| 8 | g.60822562T>C | CA371309248 | CHD7 | c.3017T>C (p.Phe1006Ser) c.1717-39667T>C (n.1717-39667T>C) c.1004T>C (p.Phe335Ser) c.554T>C (p.Phe185Ser) | COSMIC |
| 8 | g.60822562T>G | CA371309249 | CHD7 | c.3017T>G (p.Phe1006Cys) c.1717-39667T>G (n.1717-39667T>G) c.1004T>G (p.Phe335Cys) c.554T>G (p.Phe185Cys) | |
| 8 | g.60822563T>A | CA371309251 | CHD7 | c.3018T>A (p.Phe1006Leu) c.1717-39666T>A (n.1717-39666T>A) c.1005T>A (p.Phe335Leu) c.555T>A (p.Phe185Leu) | |
| 8 | g.60822563T>C | CA461104375 | CHD7 | c.3018T>C (p.Phe1006=) c.1717-39666T>C (n.1717-39666T>C) c.1005T>C (p.Phe335=) c.555T>C (p.Phe185=) | |
| 8 | g.60822563T>G | CA371309252 | CHD7 | c.3018T>G (p.Phe1006Leu) c.1717-39666T>G (n.1717-39666T>G) c.1005T>G (p.Phe335Leu) c.555T>G (p.Phe185Leu) | |
| 8 | g.60822564C>A | CA371309256 | CHD7 | c.3019C>A (p.Leu1007Ile) c.1717-39665C>A (n.1717-39665C>A) c.1006C>A (p.Leu336Ile) c.556C>A (p.Leu186Ile) | |
| 8 | g.60822564C>G | CA371309258 | CHD7 | c.3019C>G (p.Leu1007Val) c.1717-39665C>G (n.1717-39665C>G) c.1006C>G (p.Leu336Val) c.556C>G (p.Leu186Val) | |
| 8 | g.60822564C>T | CA371309269 | CHD7 | c.3019C>T (p.Leu1007Phe) c.1717-39665C>T (n.1717-39665C>T) c.1006C>T (p.Leu336Phe) c.556C>T (p.Leu186Phe) | COSMIC |
| 8 | g.60822565T>A | CA371309280 | CHD7 | c.3020T>A (p.Leu1007His) c.1717-39664T>A (n.1717-39664T>A) c.1007T>A (p.Leu336His) c.557T>A (p.Leu186His) | |
| 8 | g.60822565T>C | CA371309296 | CHD7 | c.3020T>C (p.Leu1007Pro) c.1717-39664T>C (n.1717-39664T>C) c.1007T>C (p.Leu336Pro) c.557T>C (p.Leu186Pro) | |
| 8 | g.60822565T>G | CA371309301 | CHD7 | c.3020T>G (p.Leu1007Arg) c.1717-39664T>G (n.1717-39664T>G) c.1007T>G (p.Leu336Arg) c.557T>G (p.Leu186Arg) | |
| 8 | g.60822566C>A | CA461104381 | CHD7 | c.3021C>A (p.Leu1007=) c.1717-39663C>A (n.1717-39663C>A) c.1008C>A (p.Leu336=) c.558C>A (p.Leu186=) | |
| 8 | g.60822566C>G | CA461104383 | CHD7 | c.3021C>G (p.Leu1007=) c.1717-39663C>G (n.1717-39663C>G) c.1008C>G (p.Leu336=) c.558C>G (p.Leu186=) | |
| 8 | g.60822566C>T | CA461104385 | CHD7 | c.3021C>T (p.Leu1007=) c.1717-39663C>T (n.1717-39663C>T) c.1008C>T (p.Leu336=) c.558C>T (p.Leu186=) | gnomAD v4 |
| 8 | g.60822567T>A | CA371309311 | CHD7 | c.3022T>A (p.Tyr1008Asn) c.1717-39662T>A (n.1717-39662T>A) c.1009T>A (p.Tyr337Asn) c.559T>A (p.Tyr187Asn) | |
| 8 | g.60822567T>C | CA371309305 | CHD7 | c.3022T>C (p.Tyr1008His) c.1717-39662T>C (n.1717-39662T>C) c.1009T>C (p.Tyr337His) c.559T>C (p.Tyr187His) | |
| 8 | g.60822567T>G | CA371309307 | CHD7 | c.3022T>G (p.Tyr1008Asp) c.1717-39662T>G (n.1717-39662T>G) c.1009T>G (p.Tyr337Asp) c.559T>G (p.Tyr187Asp) | |
| 8 | g.60822568_60822569del | CA2695209657 | CHD7 | c.3023_3024del (p.Tyr1008Ter) c.1717-39661_1717-39660del (n.1717-39661_1717-39660del) c.1010_1011del (p.Tyr337Ter) c.560_561del (p.Tyr187Ter) | |
| 8 | g.60822568A= | CA1788144529 | CHD7 | c.3023A= (p.Tyr1008=) c.1717-39661A= (n.1717-39661A=) c.1010A= (p.Tyr337=) c.560A= (p.Tyr187=) | |
| 8 | g.60822568A>C | CA371309313 | CHD7 | c.3023A>C (p.Tyr1008Ser) c.1717-39661A>C (n.1717-39661A>C) c.1010A>C (p.Tyr337Ser) c.560A>C (p.Tyr187Ser) | |
| 8 | g.60822568A>G | CA4759878 | CHD7 | c.3023A>G (p.Tyr1008Cys) c.1717-39661A>G (n.1717-39661A>G) c.1010A>G (p.Tyr337Cys) c.560A>G (p.Tyr187Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822568A>T | CA371309317 | CHD7 | c.3023A>T (p.Tyr1008Phe) c.1717-39661A>T (n.1717-39661A>T) c.1010A>T (p.Tyr337Phe) c.560A>T (p.Tyr187Phe) | |
| 8 | g.60822568_60822575del | CA645557424 | CHD7 | c.3023_3030del (p.Tyr1008LeufsTer?) c.1717-39661_1717-39654del (n.1717-39661_1717-39654del) c.1010_1017del (p.Tyr337LeufsTer?) c.560_567del (p.Tyr187LeufsTer?) | COSMIC |
| 8 | g.60822569T>A | CA371309319 | CHD7 | c.3024T>A (p.Tyr1008Ter) c.1717-39660T>A (n.1717-39660T>A) c.1011T>A (p.Tyr337Ter) c.561T>A (p.Tyr187Ter) | |
| 8 | g.60822569T>C | CA461104389 | CHD7 | c.3024T>C (p.Tyr1008=) c.1717-39660T>C (n.1717-39660T>C) c.1011T>C (p.Tyr337=) c.561T>C (p.Tyr187=) | |
| 8 | g.60822569T>G | CA371309322 | CHD7 | c.3024T>G (p.Tyr1008Ter) c.1717-39660T>G (n.1717-39660T>G) c.1011T>G (p.Tyr337Ter) c.561T>G (p.Tyr187Ter) | gnomAD v4 |
| 8 | g.60822570G>A | CA371309326 | CHD7 | c.3025G>A (p.Glu1009Lys) c.1717-39659G>A (n.1717-39659G>A) c.1012G>A (p.Glu338Lys) c.562G>A (p.Glu188Lys) | ClinVar dbSNP |
| 8 | g.60822570G>C | CA371309328 | CHD7 | c.3025G>C (p.Glu1009Gln) c.1717-39659G>C (n.1717-39659G>C) c.1012G>C (p.Glu338Gln) c.562G>C (p.Glu188Gln) | |
| 8 | g.60822570G= | CA1788144539 | CHD7 | c.3025G= (p.Glu1009=) c.1717-39659G= (n.1717-39659G=) c.1012G= (p.Glu338=) c.562G= (p.Glu188=) | |
| 8 | g.60822570G>T | CA371309330 | CHD7 | c.3025G>T (p.Glu1009Ter) c.1717-39659G>T (n.1717-39659G>T) c.1012G>T (p.Glu338Ter) c.562G>T (p.Glu188Ter) | |
| 8 | g.60822571A>C | CA371309332 | CHD7 | c.3026A>C (p.Glu1009Ala) c.1717-39658A>C (n.1717-39658A>C) c.1013A>C (p.Glu338Ala) c.563A>C (p.Glu188Ala) | |
| 8 | g.60822571A>G | CA371309336 | CHD7 | c.3026A>G (p.Glu1009Gly) c.1717-39658A>G (n.1717-39658A>G) c.1013A>G (p.Glu338Gly) c.563A>G (p.Glu188Gly) | |
| 8 | g.60822571A>T | CA371309339 | CHD7 | c.3026A>T (p.Glu1009Val) c.1717-39658A>T (n.1717-39658A>T) c.1013A>T (p.Glu338Val) c.563A>T (p.Glu188Val) | |
| 8 | g.60822572G>A | CA461104393 | CHD7 | c.3027G>A (p.Glu1009=) c.1717-39657G>A (n.1717-39657G>A) c.1014G>A (p.Glu338=) c.564G>A (p.Glu188=) | COSMIC |
| 8 | g.60822572G>C | CA371309344 | CHD7 | c.3027G>C (p.Glu1009Asp) c.1717-39657G>C (n.1717-39657G>C) c.1014G>C (p.Glu338Asp) c.564G>C (p.Glu188Asp) | |
| 8 | g.60822572G>T | CA371309341 | CHD7 | c.3027G>T (p.Glu1009Asp) c.1717-39657G>T (n.1717-39657G>T) c.1014G>T (p.Glu338Asp) c.564G>T (p.Glu188Asp) | |
| 8 | g.60822573A>C | CA371309349 | CHD7 | c.3028A>C (p.Ile1010Leu) c.1717-39656A>C (n.1717-39656A>C) c.1015A>C (p.Ile339Leu) c.565A>C (p.Ile189Leu) | gnomAD v4 |
| 8 | g.60822573A>G | CA371309351 | CHD7 | c.3028A>G (p.Ile1010Val) c.1717-39656A>G (n.1717-39656A>G) c.1015A>G (p.Ile339Val) c.565A>G (p.Ile189Val) | |
| 8 | g.60822573A>T | CA371309355 | CHD7 | c.3028A>T (p.Ile1010Leu) c.1717-39656A>T (n.1717-39656A>T) c.1015A>T (p.Ile339Leu) c.565A>T (p.Ile189Leu) | |
| 8 | g.60822574T>A | CA371309357 | CHD7 | c.3029T>A (p.Ile1010Lys) c.1717-39655T>A (n.1717-39655T>A) c.1016T>A (p.Ile339Lys) c.566T>A (p.Ile189Lys) | |
| 8 | g.60822574T>C | CA371309359 | CHD7 | c.3029T>C (p.Ile1010Thr) c.1717-39655T>C (n.1717-39655T>C) c.1016T>C (p.Ile339Thr) c.566T>C (p.Ile189Thr) | |
| 8 | g.60822574T>G | CA371309363 | CHD7 | c.3029T>G (p.Ile1010Arg) c.1717-39655T>G (n.1717-39655T>G) c.1016T>G (p.Ile339Arg) c.566T>G (p.Ile189Arg) | |
| 8 | g.60822575A= | CA1788144547 | CHD7 | c.3030A= (p.Ile1010=) c.1717-39654A= (n.1717-39654A=) c.1017A= (p.Ile339=) c.567A= (p.Ile189=) | |
| 8 | g.60822575A>C | CA461104395 | CHD7 | c.3030A>C (p.Ile1010=) c.1717-39654A>C (n.1717-39654A>C) c.1017A>C (p.Ile339=) c.567A>C (p.Ile189=) | |
| 8 | g.60822575A>G | CA371309369 | CHD7 | c.3030A>G (p.Ile1010Met) c.1717-39654A>G (n.1717-39654A>G) c.1017A>G (p.Ile339Met) c.567A>G (p.Ile189Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822575A>T | CA461104398 | CHD7 | c.3030A>T (p.Ile1010=) c.1717-39654A>T (n.1717-39654A>T) c.1017A>T (p.Ile339=) c.567A>T (p.Ile189=) | |
| 8 | g.60822576T>A | CA371309372 | CHD7 | c.3031T>A (p.Tyr1011Asn) c.1717-39653T>A (n.1717-39653T>A) c.1018T>A (p.Tyr340Asn) c.568T>A (p.Tyr190Asn) | |
| 8 | g.60822576T>C | CA4759879 | CHD7 | c.3031T>C (p.Tyr1011His) c.1717-39653T>C (n.1717-39653T>C) c.1018T>C (p.Tyr340His) c.568T>C (p.Tyr190His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822576T>G | CA371309373 | CHD7 | c.3031T>G (p.Tyr1011Asp) c.1717-39653T>G (n.1717-39653T>G) c.1018T>G (p.Tyr340Asp) c.568T>G (p.Tyr190Asp) | |
| 8 | g.60822576T= | CA1788144552 | CHD7 | c.3031T= (p.Tyr1011=) c.1717-39653T= (n.1717-39653T=) c.1018T= (p.Tyr340=) c.568T= (p.Tyr190=) | |
| 8 | g.60822577A= | CA1788144556 | CHD7 | c.3032A= (p.Tyr1011=) c.1717-39652A= (n.1717-39652A=) c.1019A= (p.Tyr340=) c.569A= (p.Tyr190=) | |
| 8 | g.60822577A>C | CA371309375 | CHD7 | c.3032A>C (p.Tyr1011Ser) c.1717-39652A>C (n.1717-39652A>C) c.1019A>C (p.Tyr340Ser) c.569A>C (p.Tyr190Ser) | |
| 8 | g.60822577A>G | CA371309378 | CHD7 | c.3032A>G (p.Tyr1011Cys) c.1717-39652A>G (n.1717-39652A>G) c.1019A>G (p.Tyr340Cys) c.569A>G (p.Tyr190Cys) | gnomAD v4 COSMIC |
| 8 | g.60822577A>T | CA4759880 | CHD7 | c.3032A>T (p.Tyr1011Phe) c.1717-39652A>T (n.1717-39652A>T) c.1019A>T (p.Tyr340Phe) c.569A>T (p.Tyr190Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822578T>A | CA371309391 | CHD7 | c.3033T>A (p.Tyr1011Ter) c.1717-39651T>A (n.1717-39651T>A) c.1020T>A (p.Tyr340Ter) c.570T>A (p.Tyr190Ter) | |
| 8 | g.60822578T>C | CA461104404 | CHD7 | c.3033T>C (p.Tyr1011=) c.1717-39651T>C (n.1717-39651T>C) c.1020T>C (p.Tyr340=) c.570T>C (p.Tyr190=) | ClinVar dbSNP |
| 8 | g.60822578T>G | CA371309383 | CHD7 | c.3033T>G (p.Tyr1011Ter) c.1717-39651T>G (n.1717-39651T>G) c.1020T>G (p.Tyr340Ter) c.570T>G (p.Tyr190Ter) | |
| 8 | g.60822578T= | CA1788144559 | CHD7 | c.3033T= (p.Tyr1011=) c.1717-39651T= (n.1717-39651T=) c.1020T= (p.Tyr340=) c.570T= (p.Tyr190=) | |
| 8 | g.60822579T>A | CA371309394 | CHD7 | c.3034T>A (p.Leu1012Met) c.1717-39650T>A (n.1717-39650T>A) c.1021T>A (p.Leu341Met) c.571T>A (p.Leu191Met) | |
| 8 | g.60822579T>C | CA461104405 | CHD7 | c.3034T>C (p.Leu1012=) c.1717-39650T>C (n.1717-39650T>C) c.1021T>C (p.Leu341=) c.571T>C (p.Leu191=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822579T>G | CA371309399 | CHD7 | c.3034T>G (p.Leu1012Val) c.1717-39650T>G (n.1717-39650T>G) c.1021T>G (p.Leu341Val) c.571T>G (p.Leu191Val) | |
| 8 | g.60822579T= | CA1788144561 | CHD7 | c.3034T= (p.Leu1012=) c.1717-39650T= (n.1717-39650T=) c.1021T= (p.Leu341=) c.571T= (p.Leu191=) | |
| 8 | g.60822580T>A | CA371309401 | CHD7 | c.3035T>A (p.Leu1012Ter) c.1717-39649T>A (n.1717-39649T>A) c.1022T>A (p.Leu341Ter) c.572T>A (p.Leu191Ter) | |
| 8 | g.60822580T>C | CA371309404 | CHD7 | c.3035T>C (p.Leu1012Ser) c.1717-39649T>C (n.1717-39649T>C) c.1022T>C (p.Leu341Ser) c.572T>C (p.Leu191Ser) | |
| 8 | g.60822580T>G | CA371309406 | CHD7 | c.3035T>G (p.Leu1012Trp) c.1717-39649T>G (n.1717-39649T>G) c.1022T>G (p.Leu341Trp) c.572T>G (p.Leu191Trp) | |
| 8 | g.60822581G>A | CA461104406 | CHD7 | c.3036G>A (p.Leu1012=) c.1717-39648G>A (n.1717-39648G>A) c.1023G>A (p.Leu341=) c.573G>A (p.Leu191=) | |
| 8 | g.60822581G>C | CA371309409 | CHD7 | c.3036G>C (p.Leu1012Phe) c.1717-39648G>C (n.1717-39648G>C) c.1023G>C (p.Leu341Phe) c.573G>C (p.Leu191Phe) | ClinVar dbSNP |
| 8 | g.60822581G= | CA1788144564 | CHD7 | c.3036G= (p.Leu1012=) c.1717-39648G= (n.1717-39648G=) c.1023G= (p.Leu341=) c.573G= (p.Leu191=) | |
| 8 | g.60822581G>T | CA371309411 | CHD7 | c.3036G>T (p.Leu1012Phe) c.1717-39648G>T (n.1717-39648G>T) c.1023G>T (p.Leu341Phe) c.573G>T (p.Leu191Phe) | |
| 8 | g.60822582A>C | CA371309414 | CHD7 | c.3037A>C (p.Lys1013Gln) c.1717-39647A>C (n.1717-39647A>C) c.1024A>C (p.Lys342Gln) c.574A>C (p.Lys192Gln) | |
| 8 | g.60822582A>G | CA371309416 | CHD7 | c.3037A>G (p.Lys1013Glu) c.1717-39647A>G (n.1717-39647A>G) c.1024A>G (p.Lys342Glu) c.574A>G (p.Lys192Glu) | gnomAD v4 |
| 8 | g.60822582A>T | CA371309420 | CHD7 | c.3037A>T (p.Lys1013Ter) c.1717-39647A>T (n.1717-39647A>T) c.1024A>T (p.Lys342Ter) c.574A>T (p.Lys192Ter) | |
| 8 | g.60822584del | CA2573053040 | CHD7 | c.3039del (p.Gly1014GlufsTer7) c.1717-39645del (n.1717-39645del) c.1026del (p.Gly343GlufsTer7) c.576del (p.Gly193GlufsTer7) | ClinVar dbSNP |
| 8 | g.60822583A>C | CA371309424 | CHD7 | c.3038A>C (p.Lys1013Thr) c.1717-39646A>C (n.1717-39646A>C) c.1025A>C (p.Lys342Thr) c.575A>C (p.Lys192Thr) | |
| 8 | g.60822583A>G | CA371309427 | CHD7 | c.3038A>G (p.Lys1013Arg) c.1717-39646A>G (n.1717-39646A>G) c.1025A>G (p.Lys342Arg) c.575A>G (p.Lys192Arg) | |
| 8 | g.60822583A>T | CA371309437 | CHD7 | c.3038A>T (p.Lys1013Ile) c.1717-39646A>T (n.1717-39646A>T) c.1025A>T (p.Lys342Ile) c.575A>T (p.Lys192Ile) | |
| 8 | g.60822584A>C | CA371309445 | CHD7 | c.3039A>C (p.Lys1013Asn) c.1717-39645A>C (n.1717-39645A>C) c.1026A>C (p.Lys342Asn) c.576A>C (p.Lys192Asn) | gnomAD v4 |
| 8 | g.60822584A>G | CA461104417 | CHD7 | c.3039A>G (p.Lys1013=) c.1717-39645A>G (n.1717-39645A>G) c.1026A>G (p.Lys342=) c.576A>G (p.Lys192=) | gnomAD v4 |
| 8 | g.60822584A>T | CA371309441 | CHD7 | c.3039A>T (p.Lys1013Asn) c.1717-39645A>T (n.1717-39645A>T) c.1026A>T (p.Lys342Asn) c.576A>T (p.Lys192Asn) | |
| 8 | g.60822585G>A | CA371309450 | CHD7 | c.3040G>A (p.Gly1014Arg) c.1717-39644G>A (n.1717-39644G>A) c.1027G>A (p.Gly343Arg) c.577G>A (p.Gly193Arg) | |
| 8 | g.60822585G>C | CA371309462 | CHD7 | c.3040G>C (p.Gly1014Arg) c.1717-39644G>C (n.1717-39644G>C) c.1027G>C (p.Gly343Arg) c.577G>C (p.Gly193Arg) | |
| 8 | g.60822585G>T | CA371309453 | CHD7 | c.3040G>T (p.Gly1014Ter) c.1717-39644G>T (n.1717-39644G>T) c.1027G>T (p.Gly343Ter) c.577G>T (p.Gly193Ter) | |
| 8 | g.60822586G>A | CA371309466 | CHD7 | c.3041G>A (p.Gly1014Glu) c.1717-39643G>A (n.1717-39643G>A) c.1028G>A (p.Gly343Glu) c.578G>A (p.Gly193Glu) | ClinVar COSMIC |
| 8 | g.60822586G>C | CA371309475 | CHD7 | c.3041G>C (p.Gly1014Ala) c.1717-39643G>C (n.1717-39643G>C) c.1028G>C (p.Gly343Ala) c.578G>C (p.Gly193Ala) | |
| 8 | g.60822586G>T | CA371309470 | CHD7 | c.3041G>T (p.Gly1014Val) c.1717-39643G>T (n.1717-39643G>T) c.1028G>T (p.Gly343Val) c.578G>T (p.Gly193Val) | |
| 8 | g.60822587A>C | CA461104421 | CHD7 | c.3042A>C (p.Gly1014=) c.1717-39642A>C (n.1717-39642A>C) c.1029A>C (p.Gly343=) c.579A>C (p.Gly193=) | |
| 8 | g.60822587A>G | CA461104434 | CHD7 | c.3042A>G (p.Gly1014=) c.1717-39642A>G (n.1717-39642A>G) c.1029A>G (p.Gly343=) c.579A>G (p.Gly193=) | |
| 8 | g.60822587A>T | CA461104437 | CHD7 | c.3042A>T (p.Gly1014=) c.1717-39642A>T (n.1717-39642A>T) c.1029A>T (p.Gly343=) c.579A>T (p.Gly193=) | |
| 8 | g.60822588A= | CA1788144569 | CHD7 | c.3043A= (p.Ile1015=) c.1717-39641A= (n.1717-39641A=) c.1030A= (p.Ile344=) c.580A= (p.Ile194=) | |
| 8 | g.60822588A>C | CA371309478 | CHD7 | c.3043A>C (p.Ile1015Leu) c.1717-39641A>C (n.1717-39641A>C) c.1030A>C (p.Ile344Leu) c.580A>C (p.Ile194Leu) | |
| 8 | g.60822588A>G | CA371309480 | CHD7 | c.3043A>G (p.Ile1015Val) c.1717-39641A>G (n.1717-39641A>G) c.1030A>G (p.Ile344Val) c.580A>G (p.Ile194Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822588A>T | CA371309483 | CHD7 | c.3043A>T (p.Ile1015Phe) c.1717-39641A>T (n.1717-39641A>T) c.1030A>T (p.Ile344Phe) c.580A>T (p.Ile194Phe) | |
| 8 | g.60822589T>A | CA371309486 | CHD7 | c.3044T>A (p.Ile1015Asn) c.1717-39640T>A (n.1717-39640T>A) c.1031T>A (p.Ile344Asn) c.581T>A (p.Ile194Asn) | |
| 8 | g.60822589T>C | CA371309489 | CHD7 | c.3044T>C (p.Ile1015Thr) c.1717-39640T>C (n.1717-39640T>C) c.1031T>C (p.Ile344Thr) c.581T>C (p.Ile194Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822589T>G | CA371309492 | CHD7 | c.3044T>G (p.Ile1015Ser) c.1717-39640T>G (n.1717-39640T>G) c.1031T>G (p.Ile344Ser) c.581T>G (p.Ile194Ser) | |
| 8 | g.60822589T= | CA1788144572 | CHD7 | c.3044T= (p.Ile1015=) c.1717-39640T= (n.1717-39640T=) c.1031T= (p.Ile344=) c.581T= (p.Ile194=) | |
| 8 | g.60822590C>A | CA461104454 | CHD7 | c.3045C>A (p.Ile1015=) c.1717-39639C>A (n.1717-39639C>A) c.1032C>A (p.Ile344=) c.582C>A (p.Ile194=) | dbSNP gnomAD v4 |
| 8 | g.60822590C= | CA1788144574 | CHD7 | c.3045C= (p.Ile1015=) c.1717-39639C= (n.1717-39639C=) c.1032C= (p.Ile344=) c.582C= (p.Ile194=) | |
| 8 | g.60822590C>G | CA371309496 | CHD7 | c.3045C>G (p.Ile1015Met) c.1717-39639C>G (n.1717-39639C>G) c.1032C>G (p.Ile344Met) c.582C>G (p.Ile194Met) | gnomAD v4 |
| 8 | g.60822590C>T | CA461104458 | CHD7 | c.3045C>T (p.Ile1015=) c.1717-39639C>T (n.1717-39639C>T) c.1032C>T (p.Ile344=) c.582C>T (p.Ile194=) | |
| 8 | g.60822591C>A | CA371309499 | CHD7 | c.3046C>A (p.His1016Asn) c.1717-39638C>A (n.1717-39638C>A) c.1033C>A (p.His345Asn) c.583C>A (p.His195Asn) | |
| 8 | g.60822591C>G | CA371309502 | CHD7 | c.3046C>G (p.His1016Asp) c.1717-39638C>G (n.1717-39638C>G) c.1033C>G (p.His345Asp) c.583C>G (p.His195Asp) | |
| 8 | g.60822591C>T | CA371309504 | CHD7 | c.3046C>T (p.His1016Tyr) c.1717-39638C>T (n.1717-39638C>T) c.1033C>T (p.His345Tyr) c.583C>T (p.His195Tyr) | gnomAD v4 |
| 8 | g.60822592A= | CA1788144578 | CHD7 | c.3047A= (p.His1016=) c.1717-39637A= (n.1717-39637A=) c.1034A= (p.His345=) c.584A= (p.His195=) | |
| 8 | g.60822592A>C | CA371309509 | CHD7 | c.3047A>C (p.His1016Pro) c.1717-39637A>C (n.1717-39637A>C) c.1034A>C (p.His345Pro) c.584A>C (p.His195Pro) | |
| 8 | g.60822592A>G | CA4759881 | CHD7 | c.3047A>G (p.His1016Arg) c.1717-39637A>G (n.1717-39637A>G) c.1034A>G (p.His345Arg) c.584A>G (p.His195Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822592A>T | CA371309517 | CHD7 | c.3047A>T (p.His1016Leu) c.1717-39637A>T (n.1717-39637A>T) c.1034A>T (p.His345Leu) c.584A>T (p.His195Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822593T>A | CA371309520 | CHD7 | c.3048T>A (p.His1016Gln) c.1717-39636T>A (n.1717-39636T>A) c.1035T>A (p.His345Gln) c.585T>A (p.His195Gln) | COSMIC |
| 8 | g.60822593T>C | CA461104466 | CHD7 | c.3048T>C (p.His1016=) c.1717-39636T>C (n.1717-39636T>C) c.1035T>C (p.His345=) c.585T>C (p.His195=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822593T>G | CA371309524 | CHD7 | c.3048T>G (p.His1016Gln) c.1717-39636T>G (n.1717-39636T>G) c.1035T>G (p.His345Gln) c.585T>G (p.His195Gln) | |
| 8 | g.60822593T= | CA1788144585 | CHD7 | c.3048T= (p.His1016=) c.1717-39636T= (n.1717-39636T=) c.1035T= (p.His345=) c.585T= (p.His195=) | |
| 8 | g.60822594G>A | CA371309530 | CHD7 | c.3049G>A (p.Gly1017Ser) c.1717-39635G>A (n.1717-39635G>A) c.1036G>A (p.Gly346Ser) c.586G>A (p.Gly196Ser) | |
| 8 | g.60822594G>C | CA371309532 | CHD7 | c.3049G>C (p.Gly1017Arg) c.1717-39635G>C (n.1717-39635G>C) c.1036G>C (p.Gly346Arg) c.586G>C (p.Gly196Arg) | |
| 8 | g.60822594G>T | CA371309533 | CHD7 | c.3049G>T (p.Gly1017Cys) c.1717-39635G>T (n.1717-39635G>T) c.1036G>T (p.Gly346Cys) c.586G>T (p.Gly196Cys) | |
| 8 | g.60822595G>A | CA371309534 | CHD7 | c.3050G>A (p.Gly1017Asp) c.1717-39634G>A (n.1717-39634G>A) c.1037G>A (p.Gly346Asp) c.587G>A (p.Gly196Asp) | |
| 8 | g.60822595G>C | CA371309535 | CHD7 | c.3050G>C (p.Gly1017Ala) c.1717-39634G>C (n.1717-39634G>C) c.1037G>C (p.Gly346Ala) c.587G>C (p.Gly196Ala) | |
| 8 | g.60822595G>T | CA371309536 | CHD7 | c.3050G>T (p.Gly1017Val) c.1717-39634G>T (n.1717-39634G>T) c.1037G>T (p.Gly346Val) c.587G>T (p.Gly196Val) | |
| 8 | g.60822596C>A | CA461104475 | CHD7 | c.3051C>A (p.Gly1017=) c.1717-39633C>A (n.1717-39633C>A) c.1038C>A (p.Gly346=) c.588C>A (p.Gly196=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822596C= | CA1788144592 | CHD7 | c.3051C= (p.Gly1017=) c.1717-39633C= (n.1717-39633C=) c.1038C= (p.Gly346=) c.588C= (p.Gly196=) | |
| 8 | g.60822596C>G | CA461104477 | CHD7 | c.3051C>G (p.Gly1017=) c.1717-39633C>G (n.1717-39633C>G) c.1038C>G (p.Gly346=) c.588C>G (p.Gly196=) | |
| 8 | g.60822596C>T | CA461104481 | CHD7 | c.3051C>T (p.Gly1017=) c.1717-39633C>T (n.1717-39633C>T) c.1038C>T (p.Gly346=) c.588C>T (p.Gly196=) | COSMIC |
| 8 | g.60822597C>A | CA371309539 | CHD7 | c.3052C>A (p.Pro1018Thr) c.1717-39632C>A (n.1717-39632C>A) c.1039C>A (p.Pro347Thr) c.589C>A (p.Pro197Thr) | |
| 8 | g.60822597C>G | CA371309540 | CHD7 | c.3052C>G (p.Pro1018Ala) c.1717-39632C>G (n.1717-39632C>G) c.1039C>G (p.Pro347Ala) c.589C>G (p.Pro197Ala) | |
| 8 | g.60822597C>T | CA371309543 | CHD7 | c.3052C>T (p.Pro1018Ser) c.1717-39632C>T (n.1717-39632C>T) c.1039C>T (p.Pro347Ser) c.589C>T (p.Pro197Ser) | |
| 8 | g.60822598C>A | CA371309548 | CHD7 | c.3053C>A (p.Pro1018His) c.1717-39631C>A (n.1717-39631C>A) c.1040C>A (p.Pro347His) c.590C>A (p.Pro197His) | |
| 8 | g.60822598C>G | CA371309566 | CHD7 | c.3053C>G (p.Pro1018Arg) c.1717-39631C>G (n.1717-39631C>G) c.1040C>G (p.Pro347Arg) c.590C>G (p.Pro197Arg) | |
| 8 | g.60822598C>T | CA371309571 | CHD7 | c.3053C>T (p.Pro1018Leu) c.1717-39631C>T (n.1717-39631C>T) c.1040C>T (p.Pro347Leu) c.590C>T (p.Pro197Leu) | |
| 8 | g.60822598_60822599insA | CA2695209659 | CHD7 | c.3053_3054insA (p.Leu1020PhefsTer?) c.1717-39631_1717-39630insA (n.1717-39631_1717-39630insA) c.1040_1041insA (p.Leu349PhefsTer?) c.590_591insA (p.Leu199PhefsTer?) | |
| 8 | g.60822599T>A | CA461104489 | CHD7 | c.3054T>A (p.Pro1018=) c.1717-39630T>A (n.1717-39630T>A) c.1041T>A (p.Pro347=) c.591T>A (p.Pro197=) | gnomAD v4 |
| 8 | g.60822599T>C | CA461104488 | CHD7 | c.3054T>C (p.Pro1018=) c.1717-39630T>C (n.1717-39630T>C) c.1041T>C (p.Pro347=) c.591T>C (p.Pro197=) | |
| 8 | g.60822599T>G | CA4759882 | CHD7 | c.3054T>G (p.Pro1018=) c.1717-39630T>G (n.1717-39630T>G) c.1041T>G (p.Pro347=) c.591T>G (p.Pro197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822599T= | CA1788144596 | CHD7 | c.3054T= (p.Pro1018=) c.1717-39630T= (n.1717-39630T=) c.1041T= (p.Pro347=) c.591T= (p.Pro197=) | |
| 8 | g.60822604del | CA645557425 | CHD7 | c.3059del (p.Leu1020Ter) c.1717-39625del (n.1717-39625del) c.1046del (p.Leu349Ter) c.596del (p.Leu199Ter) | gnomAD v4 COSMIC COSMIC |
| 8 | g.60822600T>A | CA371309585 | CHD7 | c.3055T>A (p.Phe1019Ile) c.1717-39629T>A (n.1717-39629T>A) c.1042T>A (p.Phe348Ile) c.592T>A (p.Phe198Ile) | |
| 8 | g.60822600T>C | CA371309579 | CHD7 | c.3055T>C (p.Phe1019Leu) c.1717-39629T>C (n.1717-39629T>C) c.1042T>C (p.Phe348Leu) c.592T>C (p.Phe198Leu) | |
| 8 | g.60822600T>G | CA371309582 | CHD7 | c.3055T>G (p.Phe1019Val) c.1717-39629T>G (n.1717-39629T>G) c.1042T>G (p.Phe348Val) c.592T>G (p.Phe198Val) | |
| 8 | g.60822601T>A | CA371309587 | CHD7 | c.3056T>A (p.Phe1019Tyr) c.1717-39628T>A (n.1717-39628T>A) c.1043T>A (p.Phe348Tyr) c.593T>A (p.Phe198Tyr) | |
| 8 | g.60822601T>C | CA371309590 | CHD7 | c.3056T>C (p.Phe1019Ser) c.1717-39628T>C (n.1717-39628T>C) c.1043T>C (p.Phe348Ser) c.593T>C (p.Phe198Ser) | |
| 8 | g.60822601T>G | CA371309595 | CHD7 | c.3056T>G (p.Phe1019Cys) c.1717-39628T>G (n.1717-39628T>G) c.1043T>G (p.Phe348Cys) c.593T>G (p.Phe198Cys) | |
| 8 | g.60822602T>A | CA371309598 | CHD7 | c.3057T>A (p.Phe1019Leu) c.1717-39627T>A (n.1717-39627T>A) c.1044T>A (p.Phe348Leu) c.594T>A (p.Phe198Leu) | |
| 8 | g.60822602T>C | CA461104497 | CHD7 | c.3057T>C (p.Phe1019=) c.1717-39627T>C (n.1717-39627T>C) c.1044T>C (p.Phe348=) c.594T>C (p.Phe198=) | |
| 8 | g.60822602T>G | CA371309602 | CHD7 | c.3057T>G (p.Phe1019Leu) c.1717-39627T>G (n.1717-39627T>G) c.1044T>G (p.Phe348Leu) c.594T>G (p.Phe198Leu) | |
| 8 | g.60822603T>A | CA371309604 | CHD7 | c.3058T>A (p.Leu1020Ile) c.1717-39626T>A (n.1717-39626T>A) c.1045T>A (p.Leu349Ile) c.595T>A (p.Leu199Ile) | |
| 8 | g.60822603T>C | CA461104501 | CHD7 | c.3058T>C (p.Leu1020=) c.1717-39626T>C (n.1717-39626T>C) c.1045T>C (p.Leu349=) c.595T>C (p.Leu199=) | |
| 8 | g.60822603T>G | CA371309605 | CHD7 | c.3058T>G (p.Leu1020Val) c.1717-39626T>G (n.1717-39626T>G) c.1045T>G (p.Leu349Val) c.595T>G (p.Leu199Val) | |
| 8 | g.60822604T>A | CA371309610 | CHD7 | c.3059T>A (p.Leu1020Ter) c.1717-39625T>A (n.1717-39625T>A) c.1046T>A (p.Leu349Ter) c.596T>A (p.Leu199Ter) | |
| 8 | g.60822604T>C | CA16605400 | CHD7 | c.3059T>C (p.Leu1020Ser) c.1717-39625T>C (n.1717-39625T>C) c.1046T>C (p.Leu349Ser) c.596T>C (p.Leu199Ser) | ClinVar dbSNP |
| 8 | g.60822604T>G | CA371309615 | CHD7 | c.3059T>G (p.Leu1020Ter) c.1717-39625T>G (n.1717-39625T>G) c.1046T>G (p.Leu349Ter) c.596T>G (p.Leu199Ter) | |
| 8 | g.60822604T= | CA1788144605 | CHD7 | c.3059T= (p.Leu1020=) c.1717-39625T= (n.1717-39625T=) c.1046T= (p.Leu349=) c.596T= (p.Leu199=) | |
| 8 | g.60822605A= | CA1788144611 | CHD7 | c.3060A= (p.Leu1020=) c.1717-39624A= (n.1717-39624A=) c.1047A= (p.Leu349=) c.597A= (p.Leu199=) | |
| 8 | g.60822605A>C | CA371309620 | CHD7 | c.3060A>C (p.Leu1020Phe) c.1717-39624A>C (n.1717-39624A>C) c.1047A>C (p.Leu349Phe) c.597A>C (p.Leu199Phe) | |
| 8 | g.60822605A>G | CA461104506 | CHD7 | c.3060A>G (p.Leu1020=) c.1717-39624A>G (n.1717-39624A>G) c.1047A>G (p.Leu349=) c.597A>G (p.Leu199=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822605A>T | CA371309622 | CHD7 | c.3060A>T (p.Leu1020Phe) c.1717-39624A>T (n.1717-39624A>T) c.1047A>T (p.Leu349Phe) c.597A>T (p.Leu199Phe) | |
| 8 | g.60822606G>A | CA371309625 | CHD7 | c.3061G>A (p.Val1021Ile) c.1717-39623G>A (n.1717-39623G>A) c.1048G>A (p.Val350Ile) c.598G>A (p.Val200Ile) | |
| 8 | g.60822606G>C | CA371309632 | CHD7 | c.3061G>C (p.Val1021Leu) c.1717-39623G>C (n.1717-39623G>C) c.1048G>C (p.Val350Leu) c.598G>C (p.Val200Leu) | |
| 8 | g.60822606G>T | CA371309629 | CHD7 | c.3061G>T (p.Val1021Leu) c.1717-39623G>T (n.1717-39623G>T) c.1048G>T (p.Val350Leu) c.598G>T (p.Val200Leu) | ClinVar |
| 8 | g.60822607T>A | CA371309638 | CHD7 | c.3062T>A (p.Val1021Glu) c.1717-39622T>A (n.1717-39622T>A) c.1049T>A (p.Val350Glu) c.599T>A (p.Val200Glu) | |
| 8 | g.60822607T>C | CA371309641 | CHD7 | c.3062T>C (p.Val1021Ala) c.1717-39622T>C (n.1717-39622T>C) c.1049T>C (p.Val350Ala) c.599T>C (p.Val200Ala) | |
| 8 | g.60822607T>G | CA371309643 | CHD7 | c.3062T>G (p.Val1021Gly) c.1717-39622T>G (n.1717-39622T>G) c.1049T>G (p.Val350Gly) c.599T>G (p.Val200Gly) | |
| 8 | g.60822608A>C | CA461104516 | CHD7 | c.3063A>C (p.Val1021=) c.1717-39621A>C (n.1717-39621A>C) c.1050A>C (p.Val350=) c.600A>C (p.Val200=) | |
| 8 | g.60822608A>G | CA461104517 | CHD7 | c.3063A>G (p.Val1021=) c.1717-39621A>G (n.1717-39621A>G) c.1050A>G (p.Val350=) c.600A>G (p.Val200=) | |
| 8 | g.60822608A>T | CA461104518 | CHD7 | c.3063A>T (p.Val1021=) c.1717-39621A>T (n.1717-39621A>T) c.1050A>T (p.Val350=) c.600A>T (p.Val200=) | |
| 8 | g.60822609A= | CA1788144615 | CHD7 | c.3064A= (p.Ile1022=) c.1717-39620A= (n.1717-39620A=) c.1051A= (p.Ile351=) c.601A= (p.Ile201=) | |
| 8 | g.60822609A>C | CA371309645 | CHD7 | c.3064A>C (p.Ile1022Leu) c.1717-39620A>C (n.1717-39620A>C) c.1051A>C (p.Ile351Leu) c.601A>C (p.Ile201Leu) | |
| 8 | g.60822609A>G | CA4759883 | CHD7 | c.3064A>G (p.Ile1022Val) c.1717-39620A>G (n.1717-39620A>G) c.1051A>G (p.Ile351Val) c.601A>G (p.Ile201Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822609A>T | CA371309656 | CHD7 | c.3064A>T (p.Ile1022Phe) c.1717-39620A>T (n.1717-39620A>T) c.1051A>T (p.Ile351Phe) c.601A>T (p.Ile201Phe) | |
| 8 | g.60822610T>A | CA371309658 | CHD7 | c.3065T>A (p.Ile1022Asn) c.1717-39619T>A (n.1717-39619T>A) c.1052T>A (p.Ile351Asn) c.602T>A (p.Ile201Asn) | |
| 8 | g.60822610T>C | CA371309661 | CHD7 | c.3065T>C (p.Ile1022Thr) c.1717-39619T>C (n.1717-39619T>C) c.1052T>C (p.Ile351Thr) c.602T>C (p.Ile201Thr) | |
| 8 | g.60822610T>G | CA371309664 | CHD7 | c.3065T>G (p.Ile1022Ser) c.1717-39619T>G (n.1717-39619T>G) c.1052T>G (p.Ile351Ser) c.602T>G (p.Ile201Ser) | |
| 8 | g.60822610_60822611dup | CA1139660546 | CHD7 | c.3065_3066dup (p.Ala1023LeufsTer20) c.1717-39619_1717-39618dup (n.1717-39619_1717-39618dup) c.1052_1053dup (p.Ala352LeufsTer20) c.602_603dup (p.Ala202LeufsTer20) | ClinVar dbSNP |
| 8 | g.60822611T>A | CA461104539 | CHD7 | c.3066T>A (p.Ile1022=) c.1717-39618T>A (n.1717-39618T>A) c.1053T>A (p.Ile351=) c.603T>A (p.Ile201=) | |
| 8 | g.60822611T>C | CA461104540 | CHD7 | c.3066T>C (p.Ile1022=) c.1717-39618T>C (n.1717-39618T>C) c.1053T>C (p.Ile351=) c.603T>C (p.Ile201=) | |
| 8 | g.60822611T>G | CA371309667 | CHD7 | c.3066T>G (p.Ile1022Met) c.1717-39618T>G (n.1717-39618T>G) c.1053T>G (p.Ile351Met) c.603T>G (p.Ile201Met) | |
| 8 | g.60822612G>A | CA371309676 | CHD7 | c.3067G>A (p.Ala1023Thr) c.1717-39617G>A (n.1717-39617G>A) c.1054G>A (p.Ala352Thr) c.604G>A (p.Ala202Thr) | |
| 8 | g.60822612G>C | CA371309673 | CHD7 | c.3067G>C (p.Ala1023Pro) c.1717-39617G>C (n.1717-39617G>C) c.1054G>C (p.Ala352Pro) c.604G>C (p.Ala202Pro) | |
| 8 | g.60822612G= | CA1788144627 | CHD7 | c.3067G= (p.Ala1023=) c.1717-39617G= (n.1717-39617G=) c.1054G= (p.Ala352=) c.604G= (p.Ala202=) | |
| 8 | g.60822612G>T | CA371309671 | CHD7 | c.3067G>T (p.Ala1023Ser) c.1717-39617G>T (n.1717-39617G>T) c.1054G>T (p.Ala352Ser) c.604G>T (p.Ala202Ser) | |
| 8 | g.60822613C>A | CA371309679 | CHD7 | c.3068C>A (p.Ala1023Asp) c.1717-39616C>A (n.1717-39616C>A) c.1055C>A (p.Ala352Asp) c.605C>A (p.Ala202Asp) | |
| 8 | g.60822613C= | CA1788144631 | CHD7 | c.3068C= (p.Ala1023=) c.1717-39616C= (n.1717-39616C=) c.1055C= (p.Ala352=) c.605C= (p.Ala202=) | |
| 8 | g.60822613C>G | CA371309687 | CHD7 | c.3068C>G (p.Ala1023Gly) c.1717-39616C>G (n.1717-39616C>G) c.1055C>G (p.Ala352Gly) c.605C>G (p.Ala202Gly) | |
| 8 | g.60822613C>T | CA371309684 | CHD7 | c.3068C>T (p.Ala1023Val) c.1717-39616C>T (n.1717-39616C>T) c.1055C>T (p.Ala352Val) c.605C>T (p.Ala202Val) | dbSNP gnomAD v4 |
| 8 | g.60822616dup | CA10602489 | CHD7 | c.3071dup (p.Leu1025IlefsTer28) c.1717-39613dup (n.1717-39613dup) c.1058dup (p.Leu354IlefsTer28) c.608dup (p.Leu204IlefsTer28) | ClinVar dbSNP |
| 8 | g.60822614C>A | CA461104561 | CHD7 | c.3069C>A (p.Ala1023=) c.1717-39615C>A (n.1717-39615C>A) c.1056C>A (p.Ala352=) c.606C>A (p.Ala202=) | |
| 8 | g.60822614C= | CA1788144638 | CHD7 | c.3069C= (p.Ala1023=) c.1717-39615C= (n.1717-39615C=) c.1056C= (p.Ala352=) c.606C= (p.Ala202=) | |
| 8 | g.60822614C>G | CA461104563 | CHD7 | c.3069C>G (p.Ala1023=) c.1717-39615C>G (n.1717-39615C>G) c.1056C>G (p.Ala352=) c.606C>G (p.Ala202=) | ClinVar gnomAD v4 |
| 8 | g.60822614C>T | CA4759884 | CHD7 | c.3069C>T (p.Ala1023=) c.1717-39615C>T (n.1717-39615C>T) c.1056C>T (p.Ala352=) c.606C>T (p.Ala202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822615C>A | CA371309694 | CHD7 | c.3070C>A (p.Pro1024Thr) c.1717-39614C>A (n.1717-39614C>A) c.1057C>A (p.Pro353Thr) c.607C>A (p.Pro203Thr) | |
| 8 | g.60822615C>G | CA371309696 | CHD7 | c.3070C>G (p.Pro1024Ala) c.1717-39614C>G (n.1717-39614C>G) c.1057C>G (p.Pro353Ala) c.607C>G (p.Pro203Ala) | |
| 8 | g.60822615C>T | CA371309699 | CHD7 | c.3070C>T (p.Pro1024Ser) c.1717-39614C>T (n.1717-39614C>T) c.1057C>T (p.Pro353Ser) c.607C>T (p.Pro203Ser) | |
| 8 | g.60822616C>A | CA371309701 | CHD7 | c.3071C>A (p.Pro1024Gln) c.1717-39613C>A (n.1717-39613C>A) c.1058C>A (p.Pro353Gln) c.608C>A (p.Pro203Gln) | |
| 8 | g.60822616C>G | CA371309704 | CHD7 | c.3071C>G (p.Pro1024Arg) c.1717-39613C>G (n.1717-39613C>G) c.1058C>G (p.Pro353Arg) c.608C>G (p.Pro203Arg) | |
| 8 | g.60822616C>T | CA371309705 | CHD7 | c.3071C>T (p.Pro1024Leu) c.1717-39613C>T (n.1717-39613C>T) c.1058C>T (p.Pro353Leu) c.608C>T (p.Pro203Leu) | |
| 8 | g.60822617A>C | CA461104577 | CHD7 | c.3072A>C (p.Pro1024=) c.1717-39612A>C (n.1717-39612A>C) c.1059A>C (p.Pro353=) c.609A>C (p.Pro203=) | |
| 8 | g.60822617A>G | CA461104578 | CHD7 | c.3072A>G (p.Pro1024=) c.1717-39612A>G (n.1717-39612A>G) c.1059A>G (p.Pro353=) c.609A>G (p.Pro203=) | ClinVar dbSNP |
| 8 | g.60822617A>T | CA461104579 | CHD7 | c.3072A>T (p.Pro1024=) c.1717-39612A>T (n.1717-39612A>T) c.1059A>T (p.Pro353=) c.609A>T (p.Pro203=) | |
| 8 | g.60822618T>A | CA371309706 | CHD7 | c.3073T>A (p.Leu1025Met) c.1717-39611T>A (n.1717-39611T>A) c.1060T>A (p.Leu354Met) c.610T>A (p.Leu204Met) | |
| 8 | g.60822618T>C | CA461104582 | CHD7 | c.3073T>C (p.Leu1025=) c.1717-39611T>C (n.1717-39611T>C) c.1060T>C (p.Leu354=) c.610T>C (p.Leu204=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60822618T>G | CA371309707 | CHD7 | c.3073T>G (p.Leu1025Val) c.1717-39611T>G (n.1717-39611T>G) c.1060T>G (p.Leu354Val) c.610T>G (p.Leu204Val) | |
| 8 | g.60822618T= | CA1788144641 | CHD7 | c.3073T= (p.Leu1025=) c.1717-39611T= (n.1717-39611T=) c.1060T= (p.Leu354=) c.610T= (p.Leu204=) | |
| 8 | g.60822619T>A | CA371309710 | CHD7 | c.3074T>A (p.Leu1025Ter) c.1717-39610T>A (n.1717-39610T>A) c.1061T>A (p.Leu354Ter) c.611T>A (p.Leu204Ter) | |
| 8 | g.60822619T>C | CA371309715 | CHD7 | c.3074T>C (p.Leu1025Ser) c.1717-39610T>C (n.1717-39610T>C) c.1061T>C (p.Leu354Ser) c.611T>C (p.Leu204Ser) | |
| 8 | g.60822619T>G | CA371309717 | CHD7 | c.3074T>G (p.Leu1025Trp) c.1717-39610T>G (n.1717-39610T>G) c.1061T>G (p.Leu354Trp) c.611T>G (p.Leu204Trp) | |
| 8 | g.60822620G>A | CA461104585 | CHD7 | c.3075G>A (p.Leu1025=) c.1717-39609G>A (n.1717-39609G>A) c.1062G>A (p.Leu354=) c.612G>A (p.Leu204=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822620G>C | CA371309719 | CHD7 | c.3075G>C (p.Leu1025Phe) c.1717-39609G>C (n.1717-39609G>C) c.1062G>C (p.Leu354Phe) c.612G>C (p.Leu204Phe) | |
| 8 | g.60822620G= | CA1788144645 | CHD7 | c.3075G= (p.Leu1025=) c.1717-39609G= (n.1717-39609G=) c.1062G= (p.Leu354=) c.612G= (p.Leu204=) | |
| 8 | g.60822620G>T | CA371309723 | CHD7 | c.3075G>T (p.Leu1025Phe) c.1717-39609G>T (n.1717-39609G>T) c.1062G>T (p.Leu354Phe) c.612G>T (p.Leu204Phe) | |
| 8 | g.60822621T>A | CA371309737 | CHD7 | c.3076T>A (p.Ser1026Thr) c.1717-39608T>A (n.1717-39608T>A) c.1063T>A (p.Ser355Thr) c.613T>A (p.Ser205Thr) | |
| 8 | g.60822621T>C | CA371309740 | CHD7 | c.3076T>C (p.Ser1026Pro) c.1717-39608T>C (n.1717-39608T>C) c.1063T>C (p.Ser355Pro) c.613T>C (p.Ser205Pro) | gnomAD v4 |
| 8 | g.60822621T>G | CA371309743 | CHD7 | c.3076T>G (p.Ser1026Ala) c.1717-39608T>G (n.1717-39608T>G) c.1063T>G (p.Ser355Ala) c.613T>G (p.Ser205Ala) | |
| 8 | g.60822622C>A | CA371309749 | CHD7 | c.3077C>A (p.Ser1026Tyr) c.1717-39607C>A (n.1717-39607C>A) c.1064C>A (p.Ser355Tyr) c.614C>A (p.Ser205Tyr) | ClinVar |
| 8 | g.60822622C>G | CA371309751 | CHD7 | c.3077C>G (p.Ser1026Cys) c.1717-39607C>G (n.1717-39607C>G) c.1064C>G (p.Ser355Cys) c.614C>G (p.Ser205Cys) | |
| 8 | g.60822622C>T | CA371309755 | CHD7 | c.3077C>T (p.Ser1026Phe) c.1717-39607C>T (n.1717-39607C>T) c.1064C>T (p.Ser355Phe) c.614C>T (p.Ser205Phe) | |
| 8 | g.60822625_60822633del | CA2695209661 | CHD7 | c.3080_3088del (p.Thr1027_Pro1029del) c.1717-39604_1717-39596del (n.1717-39604_1717-39596del) c.1067_1075del (p.Thr356_Pro358del) c.617_625del (p.Thr206_Pro208del) | |
| 8 | g.60822623C>A | CA461104596 | CHD7 | c.3078C>A (p.Ser1026=) c.1717-39606C>A (n.1717-39606C>A) c.1065C>A (p.Ser355=) c.615C>A (p.Ser205=) | |
| 8 | g.60822623C= | CA1788144649 | CHD7 | c.3078C= (p.Ser1026=) c.1717-39606C= (n.1717-39606C=) c.1065C= (p.Ser355=) c.615C= (p.Ser205=) | |
| 8 | g.60822623C>G | CA4759885 | CHD7 | c.3078C>G (p.Ser1026=) c.1717-39606C>G (n.1717-39606C>G) c.1065C>G (p.Ser355=) c.615C>G (p.Ser205=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822623C>T | CA461104597 | CHD7 | c.3078C>T (p.Ser1026=) c.1717-39606C>T (n.1717-39606C>T) c.1065C>T (p.Ser355=) c.615C>T (p.Ser205=) | ClinVar |
| 8 | g.60822624A>C | CA371309760 | CHD7 | c.3079A>C (p.Thr1027Pro) c.1717-39605A>C (n.1717-39605A>C) c.1066A>C (p.Thr356Pro) c.616A>C (p.Thr206Pro) | |
| 8 | g.60822624A>G | CA371309762 | CHD7 | c.3079A>G (p.Thr1027Ala) c.1717-39605A>G (n.1717-39605A>G) c.1066A>G (p.Thr356Ala) c.616A>G (p.Thr206Ala) | dbSNP gnomAD v4 |
| 8 | g.60822624A>T | CA371309766 | CHD7 | c.3079A>T (p.Thr1027Ser) c.1717-39605A>T (n.1717-39605A>T) c.1066A>T (p.Thr356Ser) c.616A>T (p.Thr206Ser) | |
| 8 | g.60822625C>A | CA371309770 | CHD7 | c.3080C>A (p.Thr1027Lys) c.1717-39604C>A (n.1717-39604C>A) c.1067C>A (p.Thr356Lys) c.617C>A (p.Thr206Lys) | |
| 8 | g.60822625C>G | CA371309773 | CHD7 | c.3080C>G (p.Thr1027Arg) c.1717-39604C>G (n.1717-39604C>G) c.1067C>G (p.Thr356Arg) c.617C>G (p.Thr206Arg) | |
| 8 | g.60822625C>T | CA371309777 | CHD7 | c.3080C>T (p.Thr1027Ile) c.1717-39604C>T (n.1717-39604C>T) c.1067C>T (p.Thr356Ile) c.617C>T (p.Thr206Ile) | COSMIC |
| 8 | g.60822626A= | CA1788144653 | CHD7 | c.3081A= (p.Thr1027=) c.1717-39603A= (n.1717-39603A=) c.1068A= (p.Thr356=) c.618A= (p.Thr206=) | |
| 8 | g.60822626A>C | CA461104603 | CHD7 | c.3081A>C (p.Thr1027=) c.1717-39603A>C (n.1717-39603A>C) c.1068A>C (p.Thr356=) c.618A>C (p.Thr206=) | |
| 8 | g.60822626A>G | CA461104604 | CHD7 | c.3081A>G (p.Thr1027=) c.1717-39603A>G (n.1717-39603A>G) c.1068A>G (p.Thr356=) c.618A>G (p.Thr206=) | |
| 8 | g.60822626A>T | CA461104606 | CHD7 | c.3081A>T (p.Thr1027=) c.1717-39603A>T (n.1717-39603A>T) c.1068A>T (p.Thr356=) c.618A>T (p.Thr206=) | dbSNP gnomAD v4 |
| 8 | g.60822627A= | CA1788144658 | CHD7 | c.3082A= (p.Ile1028=) c.1717-39602A= (n.1717-39602A=) c.1069A= (p.Ile357=) c.619A= (p.Ile207=) | |
| 8 | g.60822627A>C | CA371309779 | CHD7 | c.3082A>C (p.Ile1028Leu) c.1717-39602A>C (n.1717-39602A>C) c.1069A>C (p.Ile357Leu) c.619A>C (p.Ile207Leu) | |
| 8 | g.60822627A>G | CA223285 | CHD7 | c.3082A>G (p.Ile1028Val) c.1717-39602A>G (n.1717-39602A>G) c.1069A>G (p.Ile357Val) c.619A>G (p.Ile207Val) | ClinVar dbSNP |
| 8 | g.60822627A>T | CA371309782 | CHD7 | c.3082A>T (p.Ile1028Phe) c.1717-39602A>T (n.1717-39602A>T) c.1069A>T (p.Ile357Phe) c.619A>T (p.Ile207Phe) |