UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.60822628T>A | CA371309785 | CHD7 | c.3083T>A (p.Ile1028Asn) c.1717-39601T>A (n.1717-39601T>A) c.1070T>A (p.Ile357Asn) c.620T>A (p.Ile207Asn) | |
| 8 | g.60822628T>C | CA371309787 | CHD7 | c.3083T>C (p.Ile1028Thr) c.1717-39601T>C (n.1717-39601T>C) c.1070T>C (p.Ile357Thr) c.620T>C (p.Ile207Thr) | |
| 8 | g.60822628T>G | CA371309790 | CHD7 | c.3083T>G (p.Ile1028Ser) c.1717-39601T>G (n.1717-39601T>G) c.1070T>G (p.Ile357Ser) c.620T>G (p.Ile207Ser) | |
| 8 | g.60822629C>A | CA461104616 | CHD7 | c.3084C>A (p.Ile1028=) c.1717-39600C>A (n.1717-39600C>A) c.1071C>A (p.Ile357=) c.621C>A (p.Ile207=) | |
| 8 | g.60822629C>G | CA371309797 | CHD7 | c.3084C>G (p.Ile1028Met) c.1717-39600C>G (n.1717-39600C>G) c.1071C>G (p.Ile357Met) c.621C>G (p.Ile207Met) | |
| 8 | g.60822629C>T | CA461104620 | CHD7 | c.3084C>T (p.Ile1028=) c.1717-39600C>T (n.1717-39600C>T) c.1071C>T (p.Ile357=) c.621C>T (p.Ile207=) | |
| 8 | g.60822630C>A | CA371309800 | CHD7 | c.3085C>A (p.Pro1029Thr) c.1717-39599C>A (n.1717-39599C>A) c.1072C>A (p.Pro358Thr) c.622C>A (p.Pro208Thr) | |
| 8 | g.60822630C= | CA1788144665 | CHD7 | c.3085C= (p.Pro1029=) c.1717-39599C= (n.1717-39599C=) c.1072C= (p.Pro358=) c.622C= (p.Pro208=) | |
| 8 | g.60822630C>G | CA177334758 | CHD7 | c.3085C>G (p.Pro1029Ala) c.1717-39599C>G (n.1717-39599C>G) c.1072C>G (p.Pro358Ala) c.622C>G (p.Pro208Ala) | dbSNP |
| 8 | g.60822630C>T | CA371309803 | CHD7 | c.3085C>T (p.Pro1029Ser) c.1717-39599C>T (n.1717-39599C>T) c.1072C>T (p.Pro358Ser) c.622C>T (p.Pro208Ser) | |
| 8 | g.60822631C>A | CA371309806 | CHD7 | c.3086C>A (p.Pro1029His) c.1717-39598C>A (n.1717-39598C>A) c.1073C>A (p.Pro358His) c.623C>A (p.Pro208His) | |
| 8 | g.60822631C>G | CA371309809 | CHD7 | c.3086C>G (p.Pro1029Arg) c.1717-39598C>G (n.1717-39598C>G) c.1073C>G (p.Pro358Arg) c.623C>G (p.Pro208Arg) | |
| 8 | g.60822631C>T | CA371309811 | CHD7 | c.3086C>T (p.Pro1029Leu) c.1717-39598C>T (n.1717-39598C>T) c.1073C>T (p.Pro358Leu) c.623C>T (p.Pro208Leu) | COSMIC |
| 8 | g.60822632C>A | CA461104637 | CHD7 | c.3087C>A (p.Pro1029=) c.1717-39597C>A (n.1717-39597C>A) c.1074C>A (p.Pro358=) c.624C>A (p.Pro208=) | |
| 8 | g.60822632C>G | CA461104642 | CHD7 | c.3087C>G (p.Pro1029=) c.1717-39597C>G (n.1717-39597C>G) c.1074C>G (p.Pro358=) c.624C>G (p.Pro208=) | |
| 8 | g.60822632C>T | CA461104638 | CHD7 | c.3087C>T (p.Pro1029=) c.1717-39597C>T (n.1717-39597C>T) c.1074C>T (p.Pro358=) c.624C>T (p.Pro208=) | COSMIC |
| 8 | g.60822633A>C | CA371309818 | CHD7 | c.3088A>C (p.Asn1030His) c.1717-39596A>C (n.1717-39596A>C) c.1075A>C (p.Asn359His) c.625A>C (p.Asn209His) | |
| 8 | g.60822633A>G | CA371309827 | CHD7 | c.3088A>G (p.Asn1030Asp) c.1717-39596A>G (n.1717-39596A>G) c.1075A>G (p.Asn359Asp) c.625A>G (p.Asn209Asp) | |
| 8 | g.60822633A>T | CA371309829 | CHD7 | c.3088A>T (p.Asn1030Tyr) c.1717-39596A>T (n.1717-39596A>T) c.1075A>T (p.Asn359Tyr) c.625A>T (p.Asn209Tyr) | |
| 8 | g.60822634A= | CA1788144673 | CHD7 | c.3089A= (p.Asn1030=) c.1717-39595A= (n.1717-39595A=) c.1076A= (p.Asn359=) c.626A= (p.Asn209=) | |
| 8 | g.60822634A>C | CA371309836 | CHD7 | c.3089A>C (p.Asn1030Thr) c.1717-39595A>C (n.1717-39595A>C) c.1076A>C (p.Asn359Thr) c.626A>C (p.Asn209Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60822634A>G | CA10602996 | CHD7 | c.3089A>G (p.Asn1030Ser) c.1717-39595A>G (n.1717-39595A>G) c.1076A>G (p.Asn359Ser) c.626A>G (p.Asn209Ser) | ClinVar dbSNP |
| 8 | g.60822634A>T | CA371309833 | CHD7 | c.3089A>T (p.Asn1030Ile) c.1717-39595A>T (n.1717-39595A>T) c.1076A>T (p.Asn359Ile) c.626A>T (p.Asn209Ile) | |
| 8 | g.60822634_60822655delinsACTGGGAAAGGGAATTCCGAAC | CA1788144679 | CHD7 | c.3089_3110delinsACTGGGAAAGGGAATTCCGAAC (p.Asn1030=) c.1717-39595_1717-39574delinsACTGGGAAAGGGAATTCCGAAC (n.1717-39595_1717-39574delinsACTGGGAAAGGGAATTCCGAAC) c.1076_1097delinsACTGGGAAAGGGAATTCCGAAC (p.Asn359=) c.626_647delinsACTGGGAAAGGGAATTCCGAAC (p.Asn209=) | |
| 8 | g.60822635C>A | CA371309841 | CHD7 | c.3090C>A (p.Asn1030Lys) c.1717-39594C>A (n.1717-39594C>A) c.1077C>A (p.Asn359Lys) c.627C>A (p.Asn209Lys) | dbSNP gnomAD v2 |
| 8 | g.60822635C= | CA1788144685 | CHD7 | c.3090C= (p.Asn1030=) c.1717-39594C= (n.1717-39594C=) c.1077C= (p.Asn359=) c.627C= (p.Asn209=) | |
| 8 | g.60822635C>G | CA371309846 | CHD7 | c.3090C>G (p.Asn1030Lys) c.1717-39594C>G (n.1717-39594C>G) c.1077C>G (p.Asn359Lys) c.627C>G (p.Asn209Lys) | |
| 8 | g.60822635C>T | CA461104646 | CHD7 | c.3090C>T (p.Asn1030=) c.1717-39594C>T (n.1717-39594C>T) c.1077C>T (p.Asn359=) c.627C>T (p.Asn209=) | |
| 8 | g.60822639_60822659del | CA1139660547 | CHD7 | c.3094_3114del (p.Glu1032_Trp1038del) c.1717-39590_1717-39570del (n.1717-39590_1717-39570del) c.1081_1101del (p.Glu361_Trp367del) c.631_651del (p.Glu211_Trp217del) | ClinVar dbSNP |
| 8 | g.60822636T>A | CA371309850 | CHD7 | c.3091T>A (p.Trp1031Arg) c.1717-39593T>A (n.1717-39593T>A) c.1078T>A (p.Trp360Arg) c.628T>A (p.Trp210Arg) | |
| 8 | g.60822636T>C | CA371309854 | CHD7 | c.3091T>C (p.Trp1031Arg) c.1717-39593T>C (n.1717-39593T>C) c.1078T>C (p.Trp360Arg) c.628T>C (p.Trp210Arg) | |
| 8 | g.60822636T>G | CA371309855 | CHD7 | c.3091T>G (p.Trp1031Gly) c.1717-39593T>G (n.1717-39593T>G) c.1078T>G (p.Trp360Gly) c.628T>G (p.Trp210Gly) | ClinVar dbSNP |
| 8 | g.60822636T= | CA1788144688 | CHD7 | c.3091T= (p.Trp1031=) c.1717-39593T= (n.1717-39593T=) c.1078T= (p.Trp360=) c.628T= (p.Trp210=) | |
| 8 | g.60822637G>A | CA371309860 | CHD7 | c.3092G>A (p.Trp1031Ter) c.1717-39592G>A (n.1717-39592G>A) c.1079G>A (p.Trp360Ter) c.629G>A (p.Trp210Ter) | |
| 8 | g.60822637G>C | CA371309863 | CHD7 | c.3092G>C (p.Trp1031Ser) c.1717-39592G>C (n.1717-39592G>C) c.1079G>C (p.Trp360Ser) c.629G>C (p.Trp210Ser) | |
| 8 | g.60822637G>T | CA371309866 | CHD7 | c.3092G>T (p.Trp1031Leu) c.1717-39592G>T (n.1717-39592G>T) c.1079G>T (p.Trp360Leu) c.629G>T (p.Trp210Leu) | |
| 8 | g.60822638G>A | CA371309870 | CHD7 | c.3093G>A (p.Trp1031Ter) c.1717-39591G>A (n.1717-39591G>A) c.1080G>A (p.Trp360Ter) c.630G>A (p.Trp210Ter) | |
| 8 | g.60822638G>C | CA16612341 | CHD7 | c.3093G>C (p.Trp1031Cys) c.1717-39591G>C (n.1717-39591G>C) c.1080G>C (p.Trp360Cys) c.630G>C (p.Trp210Cys) | ClinVar dbSNP |
| 8 | g.60822638G= | CA1788144695 | CHD7 | c.3093G= (p.Trp1031=) c.1717-39591G= (n.1717-39591G=) c.1080G= (p.Trp360=) c.630G= (p.Trp210=) | |
| 8 | g.60822638G>T | CA371309874 | CHD7 | c.3093G>T (p.Trp1031Cys) c.1717-39591G>T (n.1717-39591G>T) c.1080G>T (p.Trp360Cys) c.630G>T (p.Trp210Cys) | |
| 8 | g.60822639G>A | CA371309885 | CHD7 | c.3094G>A (p.Glu1032Lys) c.1717-39590G>A (n.1717-39590G>A) c.1081G>A (p.Glu361Lys) c.631G>A (p.Glu211Lys) | |
| 8 | g.60822639G>C | CA371309882 | CHD7 | c.3094G>C (p.Glu1032Gln) c.1717-39590G>C (n.1717-39590G>C) c.1081G>C (p.Glu361Gln) c.631G>C (p.Glu211Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822639G= | CA1788144698 | CHD7 | c.3094G= (p.Glu1032=) c.1717-39590G= (n.1717-39590G=) c.1081G= (p.Glu361=) c.631G= (p.Glu211=) | |
| 8 | g.60822639G>T | CA371309879 | CHD7 | c.3094G>T (p.Glu1032Ter) c.1717-39590G>T (n.1717-39590G>T) c.1081G>T (p.Glu361Ter) c.631G>T (p.Glu211Ter) | |
| 8 | g.60822640A>C | CA371309889 | CHD7 | c.3095A>C (p.Glu1032Ala) c.1717-39589A>C (n.1717-39589A>C) c.1082A>C (p.Glu361Ala) c.632A>C (p.Glu211Ala) | |
| 8 | g.60822640A>G | CA371309894 | CHD7 | c.3095A>G (p.Glu1032Gly) c.1717-39589A>G (n.1717-39589A>G) c.1082A>G (p.Glu361Gly) c.632A>G (p.Glu211Gly) | |
| 8 | g.60822640A>T | CA371309892 | CHD7 | c.3095A>T (p.Glu1032Val) c.1717-39589A>T (n.1717-39589A>T) c.1082A>T (p.Glu361Val) c.632A>T (p.Glu211Val) | |
| 8 | g.60822641A>C | CA371309903 | CHD7 | c.3096A>C (p.Glu1032Asp) c.1717-39588A>C (n.1717-39588A>C) c.1083A>C (p.Glu361Asp) c.633A>C (p.Glu211Asp) | |
| 8 | g.60822641A>G | CA461104660 | CHD7 | c.3096A>G (p.Glu1032=) c.1717-39588A>G (n.1717-39588A>G) c.1083A>G (p.Glu361=) c.633A>G (p.Glu211=) | |
| 8 | g.60822641A>T | CA371309906 | CHD7 | c.3096A>T (p.Glu1032Asp) c.1717-39588A>T (n.1717-39588A>T) c.1083A>T (p.Glu361Asp) c.633A>T (p.Glu211Asp) | |
| 8 | g.60822642A= | CA1788144699 | CHD7 | c.3097A= (p.Arg1033=) c.1717-39587A= (n.1717-39587A=) c.1084A= (p.Arg362=) c.634A= (p.Arg212=) | |
| 8 | g.60822642A>C | CA4759886 | CHD7 | c.3097A>C (p.Arg1033=) c.1717-39587A>C (n.1717-39587A>C) c.1084A>C (p.Arg362=) c.634A>C (p.Arg212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822642A>G | CA371309911 | CHD7 | c.3097A>G (p.Arg1033Gly) c.1717-39587A>G (n.1717-39587A>G) c.1084A>G (p.Arg362Gly) c.634A>G (p.Arg212Gly) | |
| 8 | g.60822642A>T | CA371309913 | CHD7 | c.3097A>T (p.Arg1033Trp) c.1717-39587A>T (n.1717-39587A>T) c.1084A>T (p.Arg362Trp) c.634A>T (p.Arg212Trp) | |
| 8 | g.60822643G>A | CA371309916 | CHD7 | c.3098G>A (p.Arg1033Lys) c.1717-39586G>A (n.1717-39586G>A) c.1085G>A (p.Arg362Lys) c.635G>A (p.Arg212Lys) | |
| 8 | g.60822643G>C | CA371309924 | CHD7 | c.3098G>C (p.Arg1033Thr) c.1717-39586G>C (n.1717-39586G>C) c.1085G>C (p.Arg362Thr) c.635G>C (p.Arg212Thr) | |
| 8 | g.60822643G>T | CA371309927 | CHD7 | c.3098G>T (p.Arg1033Met) c.1717-39586G>T (n.1717-39586G>T) c.1085G>T (p.Arg362Met) c.635G>T (p.Arg212Met) | COSMIC |
| 8 | g.60822644G>A | CA461104671 | CHD7 | c.3099G>A (p.Arg1033=) c.1717-39585G>A (n.1717-39585G>A) c.1086G>A (p.Arg362=) c.636G>A (p.Arg212=) | |
| 8 | g.60822644G>C | CA371309928 | CHD7 | c.3099G>C (p.Arg1033Ser) c.1717-39585G>C (n.1717-39585G>C) c.1086G>C (p.Arg362Ser) c.636G>C (p.Arg212Ser) | |
| 8 | g.60822644G>T | CA371309929 | CHD7 | c.3099G>T (p.Arg1033Ser) c.1717-39585G>T (n.1717-39585G>T) c.1086G>T (p.Arg362Ser) c.636G>T (p.Arg212Ser) | |
| 8 | g.60822645G>A | CA371309930 | CHD7 | c.3100G>A (p.Glu1034Lys) c.1717-39584G>A (n.1717-39584G>A) c.1087G>A (p.Glu363Lys) c.637G>A (p.Glu213Lys) | |
| 8 | g.60822645G>C | CA371309932 | CHD7 | c.3100G>C (p.Glu1034Gln) c.1717-39584G>C (n.1717-39584G>C) c.1087G>C (p.Glu363Gln) c.637G>C (p.Glu213Gln) | |
| 8 | g.60822645G>T | CA371309934 | CHD7 | c.3100G>T (p.Glu1034Ter) c.1717-39584G>T (n.1717-39584G>T) c.1087G>T (p.Glu363Ter) c.637G>T (p.Glu213Ter) | |
| 8 | g.60822646A>C | CA371309939 | CHD7 | c.3101A>C (p.Glu1034Ala) c.1717-39583A>C (n.1717-39583A>C) c.1088A>C (p.Glu363Ala) c.638A>C (p.Glu213Ala) | |
| 8 | g.60822646A>G | CA371309941 | CHD7 | c.3101A>G (p.Glu1034Gly) c.1717-39583A>G (n.1717-39583A>G) c.1088A>G (p.Glu363Gly) c.638A>G (p.Glu213Gly) | |
| 8 | g.60822646A>T | CA371309947 | CHD7 | c.3101A>T (p.Glu1034Val) c.1717-39583A>T (n.1717-39583A>T) c.1088A>T (p.Glu363Val) c.638A>T (p.Glu213Val) | |
| 8 | g.60822647A>C | CA371309950 | CHD7 | c.3102A>C (p.Glu1034Asp) c.1717-39582A>C (n.1717-39582A>C) c.1089A>C (p.Glu363Asp) c.639A>C (p.Glu213Asp) | |
| 8 | g.60822647A>G | CA461104677 | CHD7 | c.3102A>G (p.Glu1034=) c.1717-39582A>G (n.1717-39582A>G) c.1089A>G (p.Glu363=) c.639A>G (p.Glu213=) | gnomAD v4 |
| 8 | g.60822647A>T | CA371309954 | CHD7 | c.3102A>T (p.Glu1034Asp) c.1717-39582A>T (n.1717-39582A>T) c.1089A>T (p.Glu363Asp) c.639A>T (p.Glu213Asp) | |
| 8 | g.60822648T>A | CA371309958 | CHD7 | c.3103T>A (p.Phe1035Ile) c.1717-39581T>A (n.1717-39581T>A) c.1090T>A (p.Phe364Ile) c.640T>A (p.Phe214Ile) | |
| 8 | g.60822648T>C | CA371309963 | CHD7 | c.3103T>C (p.Phe1035Leu) c.1717-39581T>C (n.1717-39581T>C) c.1090T>C (p.Phe364Leu) c.640T>C (p.Phe214Leu) | |
| 8 | g.60822648T>G | CA371309966 | CHD7 | c.3103T>G (p.Phe1035Val) c.1717-39581T>G (n.1717-39581T>G) c.1090T>G (p.Phe364Val) c.640T>G (p.Phe214Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822648T= | CA1788144704 | CHD7 | c.3103T= (p.Phe1035=) c.1717-39581T= (n.1717-39581T=) c.1090T= (p.Phe364=) c.640T= (p.Phe214=) | |
| 8 | g.60822649T>A | CA371309969 | CHD7 | c.3104T>A (p.Phe1035Tyr) c.1717-39580T>A (n.1717-39580T>A) c.1091T>A (p.Phe364Tyr) c.641T>A (p.Phe214Tyr) | |
| 8 | g.60822649T>C | CA371309974 | CHD7 | c.3104T>C (p.Phe1035Ser) c.1717-39580T>C (n.1717-39580T>C) c.1091T>C (p.Phe364Ser) c.641T>C (p.Phe214Ser) | |
| 8 | g.60822649T>G | CA371309976 | CHD7 | c.3104T>G (p.Phe1035Cys) c.1717-39580T>G (n.1717-39580T>G) c.1091T>G (p.Phe364Cys) c.641T>G (p.Phe214Cys) | |
| 8 | g.60822650C>A | CA371309979 | CHD7 | c.3105C>A (p.Phe1035Leu) c.1717-39579C>A (n.1717-39579C>A) c.1092C>A (p.Phe364Leu) c.642C>A (p.Phe214Leu) | |
| 8 | g.60822650C>G | CA371309983 | CHD7 | c.3105C>G (p.Phe1035Leu) c.1717-39579C>G (n.1717-39579C>G) c.1092C>G (p.Phe364Leu) c.642C>G (p.Phe214Leu) | |
| 8 | g.60822650C>T | CA461104689 | CHD7 | c.3105C>T (p.Phe1035=) c.1717-39579C>T (n.1717-39579C>T) c.1092C>T (p.Phe364=) c.642C>T (p.Phe214=) | COSMIC |
| 8 | g.60822651C>A | CA461104693 | CHD7 | c.3106C>A (p.Arg1036=) c.1717-39578C>A (n.1717-39578C>A) c.1093C>A (p.Arg365=) c.643C>A (p.Arg215=) | |
| 8 | g.60822651C= | CA1788144709 | CHD7 | c.3106C= (p.Arg1036=) c.1717-39578C= (n.1717-39578C=) c.1093C= (p.Arg365=) c.643C= (p.Arg215=) | |
| 8 | g.60822651C>G | CA371309984 | CHD7 | c.3106C>G (p.Arg1036Gly) c.1717-39578C>G (n.1717-39578C>G) c.1093C>G (p.Arg365Gly) c.643C>G (p.Arg215Gly) | |
| 8 | g.60822651C>T | CA371309988 | CHD7 | c.3106C>T (p.Arg1036Ter) c.1717-39578C>T (n.1717-39578C>T) c.1093C>T (p.Arg365Ter) c.643C>T (p.Arg215Ter) | ClinVar dbSNP |
| 8 | g.60822652G>A | CA371309991 | CHD7 | c.3107G>A (p.Arg1036Gln) c.1717-39577G>A (n.1717-39577G>A) c.1094G>A (p.Arg365Gln) c.644G>A (p.Arg215Gln) | dbSNP gnomAD v4 |
| 8 | g.60822652G>C | CA371309995 | CHD7 | c.3107G>C (p.Arg1036Pro) c.1717-39577G>C (n.1717-39577G>C) c.1094G>C (p.Arg365Pro) c.644G>C (p.Arg215Pro) | |
| 8 | g.60822652G= | CA1788144714 | CHD7 | c.3107G= (p.Arg1036=) c.1717-39577G= (n.1717-39577G=) c.1094G= (p.Arg365=) c.644G= (p.Arg215=) | |
| 8 | g.60822652G>T | CA371309997 | CHD7 | c.3107G>T (p.Arg1036Leu) c.1717-39577G>T (n.1717-39577G>T) c.1094G>T (p.Arg365Leu) c.644G>T (p.Arg215Leu) | |
| 8 | g.60822653A>C | CA461104696 | CHD7 | c.3108A>C (p.Arg1036=) c.1717-39576A>C (n.1717-39576A>C) c.1095A>C (p.Arg365=) c.645A>C (p.Arg215=) | |
| 8 | g.60822653A>G | CA461104705 | CHD7 | c.3108A>G (p.Arg1036=) c.1717-39576A>G (n.1717-39576A>G) c.1095A>G (p.Arg365=) c.645A>G (p.Arg215=) | |
| 8 | g.60822653A>T | CA461104703 | CHD7 | c.3108A>T (p.Arg1036=) c.1717-39576A>T (n.1717-39576A>T) c.1095A>T (p.Arg365=) c.645A>T (p.Arg215=) | |
| 8 | g.60822654A>C | CA371310000 | CHD7 | c.3109A>C (p.Thr1037Pro) c.1717-39575A>C (n.1717-39575A>C) c.1096A>C (p.Thr366Pro) c.646A>C (p.Thr216Pro) | |
| 8 | g.60822654A>G | CA371310002 | CHD7 | c.3109A>G (p.Thr1037Ala) c.1717-39575A>G (n.1717-39575A>G) c.1096A>G (p.Thr366Ala) c.646A>G (p.Thr216Ala) | |
| 8 | g.60822654A>T | CA371310001 | CHD7 | c.3109A>T (p.Thr1037Ser) c.1717-39575A>T (n.1717-39575A>T) c.1096A>T (p.Thr366Ser) c.646A>T (p.Thr216Ser) | |
| 8 | g.60822655C>A | CA371310003 | CHD7 | c.3110C>A (p.Thr1037Asn) c.1717-39574C>A (n.1717-39574C>A) c.1097C>A (p.Thr366Asn) c.647C>A (p.Thr216Asn) | |
| 8 | g.60822655C>G | CA371310005 | CHD7 | c.3110C>G (p.Thr1037Ser) c.1717-39574C>G (n.1717-39574C>G) c.1097C>G (p.Thr366Ser) c.647C>G (p.Thr216Ser) | |
| 8 | g.60822655C>T | CA371310008 | CHD7 | c.3110C>T (p.Thr1037Ile) c.1717-39574C>T (n.1717-39574C>T) c.1097C>T (p.Thr366Ile) c.647C>T (p.Thr216Ile) | |
| 8 | g.60822656C>A | CA461104711 | CHD7 | c.3111C>A (p.Thr1037=) c.1717-39573C>A (n.1717-39573C>A) c.1098C>A (p.Thr366=) c.648C>A (p.Thr216=) | ClinVar dbSNP |
| 8 | g.60822656C= | CA1788144720 | CHD7 | c.3111C= (p.Thr1037=) c.1717-39573C= (n.1717-39573C=) c.1098C= (p.Thr366=) c.648C= (p.Thr216=) | |
| 8 | g.60822656C>G | CA461104712 | CHD7 | c.3111C>G (p.Thr1037=) c.1717-39573C>G (n.1717-39573C>G) c.1098C>G (p.Thr366=) c.648C>G (p.Thr216=) | |
| 8 | g.60822656C>T | CA461104713 | CHD7 | c.3111C>T (p.Thr1037=) c.1717-39573C>T (n.1717-39573C>T) c.1098C>T (p.Thr366=) c.648C>T (p.Thr216=) | |
| 8 | g.60822657T>A | CA371310016 | CHD7 | c.3112T>A (p.Trp1038Arg) c.1717-39572T>A (n.1717-39572T>A) c.1099T>A (p.Trp367Arg) c.649T>A (p.Trp217Arg) | |
| 8 | g.60822657T>C | CA371310018 | CHD7 | c.3112T>C (p.Trp1038Arg) c.1717-39572T>C (n.1717-39572T>C) c.1099T>C (p.Trp367Arg) c.649T>C (p.Trp217Arg) | |
| 8 | g.60822657T>G | CA371310023 | CHD7 | c.3112T>G (p.Trp1038Gly) c.1717-39572T>G (n.1717-39572T>G) c.1099T>G (p.Trp367Gly) c.649T>G (p.Trp217Gly) | |
| 8 | g.60822658G>A | CA371310026 | CHD7 | c.3113G>A (p.Trp1038Ter) c.1717-39571G>A (n.1717-39571G>A) c.1100G>A (p.Trp367Ter) c.650G>A (p.Trp217Ter) | |
| 8 | g.60822658G>C | CA371310027 | CHD7 | c.3113G>C (p.Trp1038Ser) c.1717-39571G>C (n.1717-39571G>C) c.1100G>C (p.Trp367Ser) c.650G>C (p.Trp217Ser) | dbSNP |
| 8 | g.60822658G>T | CA371310028 | CHD7 | c.3113G>T (p.Trp1038Leu) c.1717-39571G>T (n.1717-39571G>T) c.1100G>T (p.Trp367Leu) c.650G>T (p.Trp217Leu) | |
| 8 | g.60822659G>A | CA371310029 | CHD7 | c.3114G>A (p.Trp1038Ter) c.1717-39570G>A (n.1717-39570G>A) c.1101G>A (p.Trp367Ter) c.651G>A (p.Trp217Ter) | |
| 8 | g.60822659G>C | CA371310030 | CHD7 | c.3114G>C (p.Trp1038Cys) c.1717-39570G>C (n.1717-39570G>C) c.1101G>C (p.Trp367Cys) c.651G>C (p.Trp217Cys) | |
| 8 | g.60822659G>T | CA371310033 | CHD7 | c.3114G>T (p.Trp1038Cys) c.1717-39570G>T (n.1717-39570G>T) c.1101G>T (p.Trp367Cys) c.651G>T (p.Trp217Cys) | |
| 8 | g.60822660A>C | CA371310036 | CHD7 | c.3115A>C (p.Thr1039Pro) c.1717-39569A>C (n.1717-39569A>C) c.1102A>C (p.Thr368Pro) c.652A>C (p.Thr218Pro) | |
| 8 | g.60822660A>G | CA371310040 | CHD7 | c.3115A>G (p.Thr1039Ala) c.1717-39569A>G (n.1717-39569A>G) c.1102A>G (p.Thr368Ala) c.652A>G (p.Thr218Ala) | |
| 8 | g.60822660A>T | CA371310035 | CHD7 | c.3115A>T (p.Thr1039Ser) c.1717-39569A>T (n.1717-39569A>T) c.1102A>T (p.Thr368Ser) c.652A>T (p.Thr218Ser) | |
| 8 | g.60822661C>A | CA371310045 | CHD7 | c.3116C>A (p.Thr1039Lys) c.1717-39568C>A (n.1717-39568C>A) c.1103C>A (p.Thr368Lys) c.653C>A (p.Thr218Lys) | |
| 8 | g.60822661C>G | CA371310047 | CHD7 | c.3116C>G (p.Thr1039Arg) c.1717-39568C>G (n.1717-39568C>G) c.1103C>G (p.Thr368Arg) c.653C>G (p.Thr218Arg) | |
| 8 | g.60822661C>T | CA371310051 | CHD7 | c.3116C>T (p.Thr1039Ile) c.1717-39568C>T (n.1717-39568C>T) c.1103C>T (p.Thr368Ile) c.653C>T (p.Thr218Ile) | gnomAD v4 |