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.60852106C>A | CA371322666 | CHD7 | c.5753C>A (p.Thr1918Asn) c.1717-10123C>A (n.1717-10123C>A) n.244C>A c.5843C>A (p.Thr1948Asn) c.3830C>A (p.Thr1277Asn) c.3380C>A (p.Thr1127Asn) c.2588C>A (p.Thr863Asn) | |
| 8 | g.60852106C>G | CA371322672 | CHD7 | c.5753C>G (p.Thr1918Ser) c.1717-10123C>G (n.1717-10123C>G) n.244C>G c.5843C>G (p.Thr1948Ser) c.3830C>G (p.Thr1277Ser) c.3380C>G (p.Thr1127Ser) c.2588C>G (p.Thr863Ser) | |
| 8 | g.60852106C>T | CA371322675 | CHD7 | c.5753C>T (p.Thr1918Ile) c.1717-10123C>T (n.1717-10123C>T) n.244C>T c.5843C>T (p.Thr1948Ile) c.3830C>T (p.Thr1277Ile) c.3380C>T (p.Thr1127Ile) c.2588C>T (p.Thr863Ile) | gnomAD v4 |
| 8 | g.60852107T>A | CA460850034 | CHD7 | c.5754T>A (p.Thr1918=) c.1717-10122T>A (n.1717-10122T>A) n.245T>A c.5844T>A (p.Thr1948=) c.3831T>A (p.Thr1277=) c.3381T>A (p.Thr1127=) c.2589T>A (p.Thr863=) | |
| 8 | g.60852107T>C | CA148866 | CHD7 | c.5754T>C (p.Thr1918=) c.1717-10122T>C (n.1717-10122T>C) n.245T>C c.5844T>C (p.Thr1948=) c.3831T>C (p.Thr1277=) c.3381T>C (p.Thr1127=) c.2589T>C (p.Thr863=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852107T>G | CA460850036 | CHD7 | c.5754T>G (p.Thr1918=) c.1717-10122T>G (n.1717-10122T>G) n.245T>G c.5844T>G (p.Thr1948=) c.3831T>G (p.Thr1277=) c.3381T>G (p.Thr1127=) c.2589T>G (p.Thr863=) | |
| 8 | g.60852107T= | CA1788099422 | CHD7 | c.5754T= (p.Thr1918=) c.1717-10122T= (n.1717-10122T=) n.245T= c.5844T= (p.Thr1948=) c.3831T= (p.Thr1277=) c.3381T= (p.Thr1127=) c.2589T= (p.Thr863=) | |
| 8 | g.60852108G>A | CA371322678 | CHD7 | c.5755G>A (p.Ala1919Thr) c.1717-10121G>A (n.1717-10121G>A) n.246G>A c.5845G>A (p.Ala1949Thr) c.3832G>A (p.Ala1278Thr) c.3382G>A (p.Ala1128Thr) c.2590G>A (p.Ala864Thr) | |
| 8 | g.60852108G>C | CA371322681 | CHD7 | c.5755G>C (p.Ala1919Pro) c.1717-10121G>C (n.1717-10121G>C) n.246G>C c.5845G>C (p.Ala1949Pro) c.3832G>C (p.Ala1278Pro) c.3382G>C (p.Ala1128Pro) c.2590G>C (p.Ala864Pro) | |
| 8 | g.60852108G>T | CA371322680 | CHD7 | c.5755G>T (p.Ala1919Ser) c.1717-10121G>T (n.1717-10121G>T) n.246G>T c.5845G>T (p.Ala1949Ser) c.3832G>T (p.Ala1278Ser) c.3382G>T (p.Ala1128Ser) c.2590G>T (p.Ala864Ser) | |
| 8 | g.60852109C>A | CA371322682 | CHD7 | c.5756C>A (p.Ala1919Asp) c.1717-10120C>A (n.1717-10120C>A) n.247C>A c.5846C>A (p.Ala1949Asp) c.3833C>A (p.Ala1278Asp) c.3383C>A (p.Ala1128Asp) c.2591C>A (p.Ala864Asp) | |
| 8 | g.60852109C= | CA1788099434 | CHD7 | c.5756C= (p.Ala1919=) c.1717-10120C= (n.1717-10120C=) n.247C= c.5846C= (p.Ala1949=) c.3833C= (p.Ala1278=) c.3383C= (p.Ala1128=) c.2591C= (p.Ala864=) | |
| 8 | g.60852109C>G | CA4760453 | CHD7 | c.5756C>G (p.Ala1919Gly) c.1717-10120C>G (n.1717-10120C>G) n.247C>G c.5846C>G (p.Ala1949Gly) c.3833C>G (p.Ala1278Gly) c.3383C>G (p.Ala1128Gly) c.2591C>G (p.Ala864Gly) | dbSNP ExAC gnomAD v4 |
| 8 | g.60852109C>T | CA371322688 | CHD7 | c.5756C>T (p.Ala1919Val) c.1717-10120C>T (n.1717-10120C>T) n.247C>T c.5846C>T (p.Ala1949Val) c.3833C>T (p.Ala1278Val) c.3383C>T (p.Ala1128Val) c.2591C>T (p.Ala864Val) | dbSNP |
| 8 | g.60852110C>A | CA460850044 | CHD7 | c.5757C>A (p.Ala1919=) c.1717-10119C>A (n.1717-10119C>A) n.248C>A c.5847C>A (p.Ala1949=) c.3834C>A (p.Ala1278=) c.3384C>A (p.Ala1128=) c.2592C>A (p.Ala864=) | gnomAD v4 |
| 8 | g.60852110C= | CA1788099439 | CHD7 | c.5757C= (p.Ala1919=) c.1717-10119C= (n.1717-10119C=) n.248C= c.5847C= (p.Ala1949=) c.3834C= (p.Ala1278=) c.3384C= (p.Ala1128=) c.2592C= (p.Ala864=) | |
| 8 | g.60852110C>G | CA4760454 | CHD7 | c.5757C>G (p.Ala1919=) c.1717-10119C>G (n.1717-10119C>G) n.248C>G c.5847C>G (p.Ala1949=) c.3834C>G (p.Ala1278=) c.3384C>G (p.Ala1128=) c.2592C>G (p.Ala864=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852110C>T | CA460850046 | CHD7 | c.5757C>T (p.Ala1919=) c.1717-10119C>T (n.1717-10119C>T) n.248C>T c.5847C>T (p.Ala1949=) c.3834C>T (p.Ala1278=) c.3384C>T (p.Ala1128=) c.2592C>T (p.Ala864=) | |
| 8 | g.60852111T>A | CA371322689 | CHD7 | c.5758T>A (p.Tyr1920Asn) c.1717-10118T>A (n.1717-10118T>A) n.249T>A c.5848T>A (p.Tyr1950Asn) c.3835T>A (p.Tyr1279Asn) c.3385T>A (p.Tyr1129Asn) c.2593T>A (p.Tyr865Asn) | |
| 8 | g.60852111T>C | CA371322691 | CHD7 | c.5758T>C (p.Tyr1920His) c.1717-10118T>C (n.1717-10118T>C) n.249T>C c.5848T>C (p.Tyr1950His) c.3835T>C (p.Tyr1279His) c.3385T>C (p.Tyr1129His) c.2593T>C (p.Tyr865His) | |
| 8 | g.60852111T>G | CA371322692 | CHD7 | c.5758T>G (p.Tyr1920Asp) c.1717-10118T>G (n.1717-10118T>G) n.249T>G c.5848T>G (p.Tyr1950Asp) c.3835T>G (p.Tyr1279Asp) c.3385T>G (p.Tyr1129Asp) c.2593T>G (p.Tyr865Asp) | |
| 8 | g.60852112A= | CA1788099448 | CHD7 | c.5759A= (p.Tyr1920=) c.1717-10117A= (n.1717-10117A=) n.250A= c.5849A= (p.Tyr1950=) c.3836A= (p.Tyr1279=) c.3386A= (p.Tyr1129=) c.2594A= (p.Tyr865=) | |
| 8 | g.60852112A>C | CA371322694 | CHD7 | c.5759A>C (p.Tyr1920Ser) c.1717-10117A>C (n.1717-10117A>C) n.250A>C c.5849A>C (p.Tyr1950Ser) c.3836A>C (p.Tyr1279Ser) c.3386A>C (p.Tyr1129Ser) c.2594A>C (p.Tyr865Ser) | |
| 8 | g.60852112A>G | CA4760455 | CHD7 | c.5759A>G (p.Tyr1920Cys) c.1717-10117A>G (n.1717-10117A>G) n.250A>G c.5849A>G (p.Tyr1950Cys) c.3836A>G (p.Tyr1279Cys) c.3386A>G (p.Tyr1129Cys) c.2594A>G (p.Tyr865Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852112A>T | CA371322701 | CHD7 | c.5759A>T (p.Tyr1920Phe) c.1717-10117A>T (n.1717-10117A>T) n.250A>T c.5849A>T (p.Tyr1950Phe) c.3836A>T (p.Tyr1279Phe) c.3386A>T (p.Tyr1129Phe) c.2594A>T (p.Tyr865Phe) | |
| 8 | g.60852113T>A | CA371322703 | CHD7 | c.5760T>A (p.Tyr1920Ter) c.1717-10116T>A (n.1717-10116T>A) n.251T>A c.5850T>A (p.Tyr1950Ter) c.3837T>A (p.Tyr1279Ter) c.3387T>A (p.Tyr1129Ter) c.2595T>A (p.Tyr865Ter) | |
| 8 | g.60852113T>C | CA4760456 | CHD7 | c.5760T>C (p.Tyr1920=) c.1717-10116T>C (n.1717-10116T>C) n.251T>C c.5850T>C (p.Tyr1950=) c.3837T>C (p.Tyr1279=) c.3387T>C (p.Tyr1129=) c.2595T>C (p.Tyr865=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852113T>G | CA371322707 | CHD7 | c.5760T>G (p.Tyr1920Ter) c.1717-10116T>G (n.1717-10116T>G) n.251T>G c.5850T>G (p.Tyr1950Ter) c.3837T>G (p.Tyr1279Ter) c.3387T>G (p.Tyr1129Ter) c.2595T>G (p.Tyr865Ter) | |
| 8 | g.60852113T= | CA1788099462 | CHD7 | c.5760T= (p.Tyr1920=) c.1717-10116T= (n.1717-10116T=) n.251T= c.5850T= (p.Tyr1950=) c.3837T= (p.Tyr1279=) c.3387T= (p.Tyr1129=) c.2595T= (p.Tyr865=) | |
| 8 | g.60852114C>A | CA371322713 | CHD7 | c.5761C>A (p.Gln1921Lys) c.1717-10115C>A (n.1717-10115C>A) n.252C>A c.5851C>A (p.Gln1951Lys) c.3838C>A (p.Gln1280Lys) c.3388C>A (p.Gln1130Lys) c.2596C>A (p.Gln866Lys) | |
| 8 | g.60852114C>G | CA371322709 | CHD7 | c.5761C>G (p.Gln1921Glu) c.1717-10115C>G (n.1717-10115C>G) n.252C>G c.5851C>G (p.Gln1951Glu) c.3838C>G (p.Gln1280Glu) c.3388C>G (p.Gln1130Glu) c.2596C>G (p.Gln866Glu) | |
| 8 | g.60852114C>T | CA371322711 | CHD7 | c.5761C>T (p.Gln1921Ter) c.1717-10115C>T (n.1717-10115C>T) n.252C>T c.5851C>T (p.Gln1951Ter) c.3838C>T (p.Gln1280Ter) c.3388C>T (p.Gln1130Ter) c.2596C>T (p.Gln866Ter) | |
| 8 | g.60852115A>C | CA371322718 | CHD7 | c.5762A>C (p.Gln1921Pro) c.1717-10114A>C (n.1717-10114A>C) n.253A>C c.5852A>C (p.Gln1951Pro) c.3839A>C (p.Gln1280Pro) c.3389A>C (p.Gln1130Pro) c.2597A>C (p.Gln866Pro) | |
| 8 | g.60852115A>G | CA371322720 | CHD7 | c.5762A>G (p.Gln1921Arg) c.1717-10114A>G (n.1717-10114A>G) n.253A>G c.5852A>G (p.Gln1951Arg) c.3839A>G (p.Gln1280Arg) c.3389A>G (p.Gln1130Arg) c.2597A>G (p.Gln866Arg) | |
| 8 | g.60852115A>T | CA371322722 | CHD7 | c.5762A>T (p.Gln1921Leu) c.1717-10114A>T (n.1717-10114A>T) n.253A>T c.5852A>T (p.Gln1951Leu) c.3839A>T (p.Gln1280Leu) c.3389A>T (p.Gln1130Leu) c.2597A>T (p.Gln866Leu) | |
| 8 | g.60852116G>A | CA460850062 | CHD7 | c.5763G>A (p.Gln1921=) c.1717-10113G>A (n.1717-10113G>A) n.254G>A c.5853G>A (p.Gln1951=) c.3840G>A (p.Gln1280=) c.3390G>A (p.Gln1130=) c.2598G>A (p.Gln866=) | ClinVar dbSNP |
| 8 | g.60852116G>C | CA371322724 | CHD7 | c.5763G>C (p.Gln1921His) c.1717-10113G>C (n.1717-10113G>C) n.254G>C c.5853G>C (p.Gln1951His) c.3840G>C (p.Gln1280His) c.3390G>C (p.Gln1130His) c.2598G>C (p.Gln866His) | |
| 8 | g.60852116G>T | CA371322725 | CHD7 | c.5763G>T (p.Gln1921His) c.1717-10113G>T (n.1717-10113G>T) n.254G>T c.5853G>T (p.Gln1951His) c.3840G>T (p.Gln1280His) c.3390G>T (p.Gln1130His) c.2598G>T (p.Gln866His) | |
| 8 | g.60852117C>A | CA371322727 | CHD7 | c.5764C>A (p.Arg1922Ser) c.1717-10112C>A (n.1717-10112C>A) n.255C>A c.5854C>A (p.Arg1952Ser) c.3841C>A (p.Arg1281Ser) c.3391C>A (p.Arg1131Ser) c.2599C>A (p.Arg867Ser) | gnomAD v4 |
| 8 | g.60852117C= | CA1788099467 | CHD7 | c.5764C= (p.Arg1922=) c.1717-10112C= (n.1717-10112C=) n.255C= c.5854C= (p.Arg1952=) c.3841C= (p.Arg1281=) c.3391C= (p.Arg1131=) c.2599C= (p.Arg867=) | |
| 8 | g.60852117C>G | CA371322728 | CHD7 | c.5764C>G (p.Arg1922Gly) c.1717-10112C>G (n.1717-10112C>G) n.255C>G c.5854C>G (p.Arg1952Gly) c.3841C>G (p.Arg1281Gly) c.3391C>G (p.Arg1131Gly) c.2599C>G (p.Arg867Gly) | |
| 8 | g.60852117C>T | CA371322730 | CHD7 | c.5764C>T (p.Arg1922Cys) c.1717-10112C>T (n.1717-10112C>T) n.255C>T c.5854C>T (p.Arg1952Cys) c.3841C>T (p.Arg1281Cys) c.3391C>T (p.Arg1131Cys) c.2599C>T (p.Arg867Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852118G>A | CA371322732 | CHD7 | c.5765G>A (p.Arg1922His) c.1717-10111G>A (n.1717-10111G>A) n.256G>A c.5855G>A (p.Arg1952His) c.3842G>A (p.Arg1281His) c.3392G>A (p.Arg1131His) c.2600G>A (p.Arg867His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852118G>C | CA371322733 | CHD7 | c.5765G>C (p.Arg1922Pro) c.1717-10111G>C (n.1717-10111G>C) n.256G>C c.5855G>C (p.Arg1952Pro) c.3842G>C (p.Arg1281Pro) c.3392G>C (p.Arg1131Pro) c.2600G>C (p.Arg867Pro) | |
| 8 | g.60852118G= | CA1788099485 | CHD7 | c.5765G= (p.Arg1922=) c.1717-10111G= (n.1717-10111G=) n.256G= c.5855G= (p.Arg1952=) c.3842G= (p.Arg1281=) c.3392G= (p.Arg1131=) c.2600G= (p.Arg867=) | |
| 8 | g.60852118G>T | CA371322744 | CHD7 | c.5765G>T (p.Arg1922Leu) c.1717-10111G>T (n.1717-10111G>T) n.256G>T c.5855G>T (p.Arg1952Leu) c.3842G>T (p.Arg1281Leu) c.3392G>T (p.Arg1131Leu) c.2600G>T (p.Arg867Leu) | |
| 8 | g.60852119C>A | CA460850072 | CHD7 | c.5766C>A (p.Arg1922=) c.1717-10110C>A (n.1717-10110C>A) n.257C>A c.5856C>A (p.Arg1952=) c.3843C>A (p.Arg1281=) c.3393C>A (p.Arg1131=) c.2601C>A (p.Arg867=) | |
| 8 | g.60852119C>G | CA460850073 | CHD7 | c.5766C>G (p.Arg1922=) c.1717-10110C>G (n.1717-10110C>G) n.257C>G c.5856C>G (p.Arg1952=) c.3843C>G (p.Arg1281=) c.3393C>G (p.Arg1131=) c.2601C>G (p.Arg867=) | |
| 8 | g.60852119C>T | CA460850075 | CHD7 | c.5766C>T (p.Arg1922=) c.1717-10110C>T (n.1717-10110C>T) n.257C>T c.5856C>T (p.Arg1952=) c.3843C>T (p.Arg1281=) c.3393C>T (p.Arg1131=) c.2601C>T (p.Arg867=) | gnomAD v4 COSMIC |
| 8 | g.60852120A>C | CA371322747 | CHD7 | c.5767A>C (p.Ser1923Arg) c.1717-10109A>C (n.1717-10109A>C) n.258A>C c.5857A>C (p.Ser1953Arg) c.3844A>C (p.Ser1282Arg) c.3394A>C (p.Ser1132Arg) c.2602A>C (p.Ser868Arg) |