| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |