Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60865115G>A | CA4760960 | CHD7 | n.1352G>A n.283G>A c.*1235G>A (n.*1235G>A) c.8176G>A (p.Ala2726Thr) c.2029G>A (p.Ala677Thr) n.222G>A n.598G>A n.4212G>A c.8266G>A (p.Ala2756Thr) c.8263G>A (p.Ala2755Thr) c.8044G>A (p.Ala2682Thr) c.6253G>A (p.Ala2085Thr) c.5803G>A (p.Ala1935Thr) c.5011G>A (p.Ala1671Thr) c.8173G>A (p.Ala2725Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865115G>C | CA371307547 | CHD7 | n.1352G>C n.283G>C c.*1235G>C (n.*1235G>C) c.8176G>C (p.Ala2726Pro) c.2029G>C (p.Ala677Pro) n.222G>C n.598G>C n.4212G>C c.8266G>C (p.Ala2756Pro) c.8263G>C (p.Ala2755Pro) c.8044G>C (p.Ala2682Pro) c.6253G>C (p.Ala2085Pro) c.5803G>C (p.Ala1935Pro) c.5011G>C (p.Ala1671Pro) c.8173G>C (p.Ala2725Pro) | |
8 | g.60865115G= | CA1788129187 | CHD7 | n.1352G= n.283G= c.*1235G= (n.*1235G=) c.8176G= (p.Ala2726=) c.2029G= (p.Ala677=) n.222G= n.598G= n.4212G= c.8266G= (p.Ala2756=) c.8263G= (p.Ala2755=) c.8044G= (p.Ala2682=) c.6253G= (p.Ala2085=) c.5803G= (p.Ala1935=) c.5011G= (p.Ala1671=) c.8173G= (p.Ala2725=) | |
8 | g.60865115G>T | CA371307552 | CHD7 | n.1352G>T n.283G>T c.*1235G>T (n.*1235G>T) c.8176G>T (p.Ala2726Ser) c.2029G>T (p.Ala677Ser) n.222G>T n.598G>T n.4212G>T c.8266G>T (p.Ala2756Ser) c.8263G>T (p.Ala2755Ser) c.8044G>T (p.Ala2682Ser) c.6253G>T (p.Ala2085Ser) c.5803G>T (p.Ala1935Ser) c.5011G>T (p.Ala1671Ser) c.8173G>T (p.Ala2725Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.60865116C>A | CA371307553 | CHD7 | n.1353C>A n.284C>A c.*1236C>A (n.*1236C>A) c.8177C>A (p.Ala2726Asp) c.2030C>A (p.Ala677Asp) n.223C>A n.599C>A n.4213C>A c.8267C>A (p.Ala2756Asp) c.8264C>A (p.Ala2755Asp) c.8045C>A (p.Ala2682Asp) c.6254C>A (p.Ala2085Asp) c.5804C>A (p.Ala1935Asp) c.5012C>A (p.Ala1671Asp) c.8174C>A (p.Ala2725Asp) | gnomAD v4 |
8 | g.60865116C= | CA1788129194 | CHD7 | n.1353C= n.284C= c.*1236C= (n.*1236C=) c.8177C= (p.Ala2726=) c.2030C= (p.Ala677=) n.223C= n.599C= n.4213C= c.8267C= (p.Ala2756=) c.8264C= (p.Ala2755=) c.8045C= (p.Ala2682=) c.6254C= (p.Ala2085=) c.5804C= (p.Ala1935=) c.5012C= (p.Ala1671=) c.8174C= (p.Ala2725=) | |
8 | g.60865116C>G | CA371307554 | CHD7 | n.1353C>G n.284C>G c.*1236C>G (n.*1236C>G) c.8177C>G (p.Ala2726Gly) c.2030C>G (p.Ala677Gly) n.223C>G n.599C>G n.4213C>G c.8267C>G (p.Ala2756Gly) c.8264C>G (p.Ala2755Gly) c.8045C>G (p.Ala2682Gly) c.6254C>G (p.Ala2085Gly) c.5804C>G (p.Ala1935Gly) c.5012C>G (p.Ala1671Gly) c.8174C>G (p.Ala2725Gly) | |
8 | g.60865116C>T | CA371307555 | CHD7 | n.1353C>T n.284C>T c.*1236C>T (n.*1236C>T) c.8177C>T (p.Ala2726Val) c.2030C>T (p.Ala677Val) n.223C>T n.599C>T n.4213C>T c.8267C>T (p.Ala2756Val) c.8264C>T (p.Ala2755Val) c.8045C>T (p.Ala2682Val) c.6254C>T (p.Ala2085Val) c.5804C>T (p.Ala1935Val) c.5012C>T (p.Ala1671Val) c.8174C>T (p.Ala2725Val) | ClinVar dbSNP gnomAD v4 |
8 | g.60865117C>A | CA461105762 | CHD7 | n.1354C>A n.285C>A c.*1237C>A (n.*1237C>A) c.8178C>A (p.Ala2726=) c.2031C>A (p.Ala677=) n.224C>A n.600C>A n.4214C>A c.8268C>A (p.Ala2756=) c.8265C>A (p.Ala2755=) c.8046C>A (p.Ala2682=) c.6255C>A (p.Ala2085=) c.5805C>A (p.Ala1935=) c.5013C>A (p.Ala1671=) c.8175C>A (p.Ala2725=) | |
8 | g.60865117C>G | CA461105764 | CHD7 | n.1354C>G n.285C>G c.*1237C>G (n.*1237C>G) c.8178C>G (p.Ala2726=) c.2031C>G (p.Ala677=) n.224C>G n.600C>G n.4214C>G c.8268C>G (p.Ala2756=) c.8265C>G (p.Ala2755=) c.8046C>G (p.Ala2682=) c.6255C>G (p.Ala2085=) c.5805C>G (p.Ala1935=) c.5013C>G (p.Ala1671=) c.8175C>G (p.Ala2725=) | |
8 | g.60865117C>T | CA461105766 | CHD7 | n.1354C>T n.285C>T c.*1237C>T (n.*1237C>T) c.8178C>T (p.Ala2726=) c.2031C>T (p.Ala677=) n.224C>T n.600C>T n.4214C>T c.8268C>T (p.Ala2756=) c.8265C>T (p.Ala2755=) c.8046C>T (p.Ala2682=) c.6255C>T (p.Ala2085=) c.5805C>T (p.Ala1935=) c.5013C>T (p.Ala1671=) c.8175C>T (p.Ala2725=) | ClinVar dbSNP |
8 | g.60865118A>C | CA461105768 | CHD7 | n.1355A>C n.286A>C c.*1238A>C (n.*1238A>C) c.8179A>C (p.Arg2727=) c.2032A>C (p.Arg678=) n.225A>C n.601A>C n.4215A>C c.8269A>C (p.Arg2757=) c.8266A>C (p.Arg2756=) c.8047A>C (p.Arg2683=) c.6256A>C (p.Arg2086=) c.5806A>C (p.Arg1936=) c.5014A>C (p.Arg1672=) c.8176A>C (p.Arg2726=) | |
8 | g.60865118A>G | CA371307565 | CHD7 | n.1355A>G n.286A>G c.*1238A>G (n.*1238A>G) c.8179A>G (p.Arg2727Gly) c.2032A>G (p.Arg678Gly) n.225A>G n.601A>G n.4215A>G c.8269A>G (p.Arg2757Gly) c.8266A>G (p.Arg2756Gly) c.8047A>G (p.Arg2683Gly) c.6256A>G (p.Arg2086Gly) c.5806A>G (p.Arg1936Gly) c.5014A>G (p.Arg1672Gly) c.8176A>G (p.Arg2726Gly) | |
8 | g.60865118A>T | CA371307567 | CHD7 | n.1355A>T n.286A>T c.*1238A>T (n.*1238A>T) c.8179A>T (p.Arg2727Ter) c.2032A>T (p.Arg678Ter) n.225A>T n.601A>T n.4215A>T c.8269A>T (p.Arg2757Ter) c.8266A>T (p.Arg2756Ter) c.8047A>T (p.Arg2683Ter) c.6256A>T (p.Arg2086Ter) c.5806A>T (p.Arg1936Ter) c.5014A>T (p.Arg1672Ter) c.8176A>T (p.Arg2726Ter) | |
8 | g.60865119G>A | CA371307571 | CHD7 | n.1356G>A n.287G>A c.*1239G>A (n.*1239G>A) c.8180G>A (p.Arg2727Lys) c.2033G>A (p.Arg678Lys) n.226G>A n.602G>A n.4216G>A c.8270G>A (p.Arg2757Lys) c.8267G>A (p.Arg2756Lys) c.8048G>A (p.Arg2683Lys) c.6257G>A (p.Arg2086Lys) c.5807G>A (p.Arg1936Lys) c.5015G>A (p.Arg1672Lys) c.8177G>A (p.Arg2726Lys) | ClinVar dbSNP gnomAD v4 |
8 | g.60865119G>C | CA371307575 | CHD7 | n.1356G>C n.287G>C c.*1239G>C (n.*1239G>C) c.8180G>C (p.Arg2727Thr) c.2033G>C (p.Arg678Thr) n.226G>C n.602G>C n.4216G>C c.8270G>C (p.Arg2757Thr) c.8267G>C (p.Arg2756Thr) c.8048G>C (p.Arg2683Thr) c.6257G>C (p.Arg2086Thr) c.5807G>C (p.Arg1936Thr) c.5015G>C (p.Arg1672Thr) c.8177G>C (p.Arg2726Thr) | |
8 | g.60865119G= | CA1788129199 | CHD7 | n.1356G= n.287G= c.*1239G= (n.*1239G=) c.8180G= (p.Arg2727=) c.2033G= (p.Arg678=) n.226G= n.602G= n.4216G= c.8270G= (p.Arg2757=) c.8267G= (p.Arg2756=) c.8048G= (p.Arg2683=) c.6257G= (p.Arg2086=) c.5807G= (p.Arg1936=) c.5015G= (p.Arg1672=) c.8177G= (p.Arg2726=) | |
8 | g.60865119G>T | CA371307578 | CHD7 | n.1356G>T n.287G>T c.*1239G>T (n.*1239G>T) c.8180G>T (p.Arg2727Ile) c.2033G>T (p.Arg678Ile) n.226G>T n.602G>T n.4216G>T c.8270G>T (p.Arg2757Ile) c.8267G>T (p.Arg2756Ile) c.8048G>T (p.Arg2683Ile) c.6257G>T (p.Arg2086Ile) c.5807G>T (p.Arg1936Ile) c.5015G>T (p.Arg1672Ile) c.8177G>T (p.Arg2726Ile) | |
8 | g.60865120A>C | CA371307582 | CHD7 | n.1357A>C n.288A>C c.*1240A>C (n.*1240A>C) c.8181A>C (p.Arg2727Ser) c.2034A>C (p.Arg678Ser) n.227A>C n.603A>C n.4217A>C c.8271A>C (p.Arg2757Ser) c.8268A>C (p.Arg2756Ser) c.8049A>C (p.Arg2683Ser) c.6258A>C (p.Arg2086Ser) c.5808A>C (p.Arg1936Ser) c.5016A>C (p.Arg1672Ser) c.8178A>C (p.Arg2726Ser) | |
8 | g.60865120A>G | CA461105771 | CHD7 | n.1357A>G n.288A>G c.*1240A>G (n.*1240A>G) c.8181A>G (p.Arg2727=) c.2034A>G (p.Arg678=) n.227A>G n.603A>G n.4217A>G c.8271A>G (p.Arg2757=) c.8268A>G (p.Arg2756=) c.8049A>G (p.Arg2683=) c.6258A>G (p.Arg2086=) c.5808A>G (p.Arg1936=) c.5016A>G (p.Arg1672=) c.8178A>G (p.Arg2726=) | ClinVar gnomAD v4 |
8 | g.60865120A>T | CA371307585 | CHD7 | n.1357A>T n.288A>T c.*1240A>T (n.*1240A>T) c.8181A>T (p.Arg2727Ser) c.2034A>T (p.Arg678Ser) n.227A>T n.603A>T n.4217A>T c.8271A>T (p.Arg2757Ser) c.8268A>T (p.Arg2756Ser) c.8049A>T (p.Arg2683Ser) c.6258A>T (p.Arg2086Ser) c.5808A>T (p.Arg1936Ser) c.5016A>T (p.Arg1672Ser) c.8178A>T (p.Arg2726Ser) | |
8 | g.60865121G>A | CA177329172 | CHD7 | n.1358G>A n.289G>A c.*1241G>A (n.*1241G>A) c.8182G>A (p.Ala2728Thr) c.2035G>A (p.Ala679Thr) n.228G>A n.604G>A n.4218G>A c.8272G>A (p.Ala2758Thr) c.8269G>A (p.Ala2757Thr) c.8050G>A (p.Ala2684Thr) c.6259G>A (p.Ala2087Thr) c.5809G>A (p.Ala1937Thr) c.5017G>A (p.Ala1673Thr) c.8179G>A (p.Ala2727Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.60865121G>C | CA371307591 | CHD7 | n.1358G>C n.289G>C c.*1241G>C (n.*1241G>C) c.8182G>C (p.Ala2728Pro) c.2035G>C (p.Ala679Pro) n.228G>C n.604G>C n.4218G>C c.8272G>C (p.Ala2758Pro) c.8269G>C (p.Ala2757Pro) c.8050G>C (p.Ala2684Pro) c.6259G>C (p.Ala2087Pro) c.5809G>C (p.Ala1937Pro) c.5017G>C (p.Ala1673Pro) c.8179G>C (p.Ala2727Pro) | |
8 | g.60865121G= | CA1788129210 | CHD7 | n.1358G= n.289G= c.*1241G= (n.*1241G=) c.8182G= (p.Ala2728=) c.2035G= (p.Ala679=) n.228G= n.604G= n.4218G= c.8272G= (p.Ala2758=) c.8269G= (p.Ala2757=) c.8050G= (p.Ala2684=) c.6259G= (p.Ala2087=) c.5809G= (p.Ala1937=) c.5017G= (p.Ala1673=) c.8179G= (p.Ala2727=) | |
8 | g.60865121G>T | CA371307594 | CHD7 | n.1358G>T n.289G>T c.*1241G>T (n.*1241G>T) c.8182G>T (p.Ala2728Ser) c.2035G>T (p.Ala679Ser) n.228G>T n.604G>T n.4218G>T c.8272G>T (p.Ala2758Ser) c.8269G>T (p.Ala2757Ser) c.8050G>T (p.Ala2684Ser) c.6259G>T (p.Ala2087Ser) c.5809G>T (p.Ala1937Ser) c.5017G>T (p.Ala1673Ser) c.8179G>T (p.Ala2727Ser) | ClinVar dbSNP |
8 | g.60865122C>A | CA371307600 | CHD7 | n.1359C>A n.290C>A c.*1242C>A (n.*1242C>A) c.8183C>A (p.Ala2728Glu) c.2036C>A (p.Ala679Glu) n.229C>A n.605C>A n.4219C>A c.8273C>A (p.Ala2758Glu) c.8270C>A (p.Ala2757Glu) c.8051C>A (p.Ala2684Glu) c.6260C>A (p.Ala2087Glu) c.5810C>A (p.Ala1937Glu) c.5018C>A (p.Ala1673Glu) c.8180C>A (p.Ala2727Glu) | |
8 | g.60865122C>G | CA371307603 | CHD7 | n.1359C>G n.290C>G c.*1242C>G (n.*1242C>G) c.8183C>G (p.Ala2728Gly) c.2036C>G (p.Ala679Gly) n.229C>G n.605C>G n.4219C>G c.8273C>G (p.Ala2758Gly) c.8270C>G (p.Ala2757Gly) c.8051C>G (p.Ala2684Gly) c.6260C>G (p.Ala2087Gly) c.5810C>G (p.Ala1937Gly) c.5018C>G (p.Ala1673Gly) c.8180C>G (p.Ala2727Gly) | |
8 | g.60865122C>T | CA371307604 | CHD7 | n.1359C>T n.290C>T c.*1242C>T (n.*1242C>T) c.8183C>T (p.Ala2728Val) c.2036C>T (p.Ala679Val) n.229C>T n.605C>T n.4219C>T c.8273C>T (p.Ala2758Val) c.8270C>T (p.Ala2757Val) c.8051C>T (p.Ala2684Val) c.6260C>T (p.Ala2087Val) c.5810C>T (p.Ala1937Val) c.5018C>T (p.Ala1673Val) c.8180C>T (p.Ala2727Val) | |
8 | g.60865123A= | CA1788129214 | CHD7 | n.1360A= n.291A= c.*1243A= (n.*1243A=) c.8184A= (p.Ala2728=) c.2037A= (p.Ala679=) n.230A= n.606A= n.4220A= c.8274A= (p.Ala2758=) c.8271A= (p.Ala2757=) c.8052A= (p.Ala2684=) c.6261A= (p.Ala2087=) c.5811A= (p.Ala1937=) c.5019A= (p.Ala1673=) c.8181A= (p.Ala2727=) | |
8 | g.60865123A>C | CA177329180 | CHD7 | n.1360A>C n.291A>C c.*1243A>C (n.*1243A>C) c.8184A>C (p.Ala2728=) c.2037A>C (p.Ala679=) n.230A>C n.606A>C n.4220A>C c.8274A>C (p.Ala2758=) c.8271A>C (p.Ala2757=) c.8052A>C (p.Ala2684=) c.6261A>C (p.Ala2087=) c.5811A>C (p.Ala1937=) c.5019A>C (p.Ala1673=) c.8181A>C (p.Ala2727=) | ClinVar dbSNP |
8 | g.60865123A>G | CA461105774 | CHD7 | n.1360A>G n.291A>G c.*1243A>G (n.*1243A>G) c.8184A>G (p.Ala2728=) c.2037A>G (p.Ala679=) n.230A>G n.606A>G n.4220A>G c.8274A>G (p.Ala2758=) c.8271A>G (p.Ala2757=) c.8052A>G (p.Ala2684=) c.6261A>G (p.Ala2087=) c.5811A>G (p.Ala1937=) c.5019A>G (p.Ala1673=) c.8181A>G (p.Ala2727=) | |
8 | g.60865123A>T | CA461105776 | CHD7 | n.1360A>T n.291A>T c.*1243A>T (n.*1243A>T) c.8184A>T (p.Ala2728=) c.2037A>T (p.Ala679=) n.230A>T n.606A>T n.4220A>T c.8274A>T (p.Ala2758=) c.8271A>T (p.Ala2757=) c.8052A>T (p.Ala2684=) c.6261A>T (p.Ala2087=) c.5811A>T (p.Ala1937=) c.5019A>T (p.Ala1673=) c.8181A>T (p.Ala2727=) | |
8 | g.60865124G>A | CA371307607 | CHD7 | n.1361G>A n.292G>A c.*1244G>A (n.*1244G>A) c.8185G>A (p.Ala2729Thr) c.2038G>A (p.Ala680Thr) n.231G>A n.607G>A n.4221G>A c.8275G>A (p.Ala2759Thr) c.8272G>A (p.Ala2758Thr) c.8053G>A (p.Ala2685Thr) c.6262G>A (p.Ala2088Thr) c.5812G>A (p.Ala1938Thr) c.5020G>A (p.Ala1674Thr) c.8182G>A (p.Ala2728Thr) | |
8 | g.60865124G>C | CA371307609 | CHD7 | n.1361G>C n.292G>C c.*1244G>C (n.*1244G>C) c.8185G>C (p.Ala2729Pro) c.2038G>C (p.Ala680Pro) n.231G>C n.607G>C n.4221G>C c.8275G>C (p.Ala2759Pro) c.8272G>C (p.Ala2758Pro) c.8053G>C (p.Ala2685Pro) c.6262G>C (p.Ala2088Pro) c.5812G>C (p.Ala1938Pro) c.5020G>C (p.Ala1674Pro) c.8182G>C (p.Ala2728Pro) | |
8 | g.60865124G>T | CA371307611 | CHD7 | n.1361G>T n.292G>T c.*1244G>T (n.*1244G>T) c.8185G>T (p.Ala2729Ser) c.2038G>T (p.Ala680Ser) n.231G>T n.607G>T n.4221G>T c.8275G>T (p.Ala2759Ser) c.8272G>T (p.Ala2758Ser) c.8053G>T (p.Ala2685Ser) c.6262G>T (p.Ala2088Ser) c.5812G>T (p.Ala1938Ser) c.5020G>T (p.Ala1674Ser) c.8182G>T (p.Ala2728Ser) | |
8 | g.60865125C>A | CA371307616 | CHD7 | n.1362C>A n.293C>A c.*1245C>A (n.*1245C>A) c.8186C>A (p.Ala2729Asp) c.2039C>A (p.Ala680Asp) n.232C>A n.608C>A n.4222C>A c.8276C>A (p.Ala2759Asp) c.8273C>A (p.Ala2758Asp) c.8054C>A (p.Ala2685Asp) c.6263C>A (p.Ala2088Asp) c.5813C>A (p.Ala1938Asp) c.5021C>A (p.Ala1674Asp) c.8183C>A (p.Ala2728Asp) | |
8 | g.60865125C>G | CA371307618 | CHD7 | n.1362C>G n.293C>G c.*1245C>G (n.*1245C>G) c.8186C>G (p.Ala2729Gly) c.2039C>G (p.Ala680Gly) n.232C>G n.608C>G n.4222C>G c.8276C>G (p.Ala2759Gly) c.8273C>G (p.Ala2758Gly) c.8054C>G (p.Ala2685Gly) c.6263C>G (p.Ala2088Gly) c.5813C>G (p.Ala1938Gly) c.5021C>G (p.Ala1674Gly) c.8183C>G (p.Ala2728Gly) | gnomAD v4 |
8 | g.60865125C>T | CA371307620 | CHD7 | n.1362C>T n.293C>T c.*1245C>T (n.*1245C>T) c.8186C>T (p.Ala2729Val) c.2039C>T (p.Ala680Val) n.232C>T n.608C>T n.4222C>T c.8276C>T (p.Ala2759Val) c.8273C>T (p.Ala2758Val) c.8054C>T (p.Ala2685Val) c.6263C>T (p.Ala2088Val) c.5813C>T (p.Ala1938Val) c.5021C>T (p.Ala1674Val) c.8183C>T (p.Ala2728Val) | |
8 | g.60865126C>A | CA461105778 | CHD7 | n.1363C>A n.294C>A c.*1246C>A (n.*1246C>A) c.8187C>A (p.Ala2729=) c.2040C>A (p.Ala680=) n.233C>A n.609C>A c.8277C>A (p.Ala2759=) c.8274C>A (p.Ala2758=) c.8055C>A (p.Ala2685=) c.6264C>A (p.Ala2088=) c.5814C>A (p.Ala1938=) c.5022C>A (p.Ala1674=) c.8184C>A (p.Ala2728=) | |
8 | g.60865126C= | CA1788129217 | CHD7 | n.1363C= n.294C= c.*1246C= (n.*1246C=) c.8187C= (p.Ala2729=) c.2040C= (p.Ala680=) n.233C= n.609C= c.8277C= (p.Ala2759=) c.8274C= (p.Ala2758=) c.8055C= (p.Ala2685=) c.6264C= (p.Ala2088=) c.5814C= (p.Ala1938=) c.5022C= (p.Ala1674=) c.8184C= (p.Ala2728=) | |
8 | g.60865126C>G | CA461105781 | CHD7 | n.1363C>G n.294C>G c.*1246C>G (n.*1246C>G) c.8187C>G (p.Ala2729=) c.2040C>G (p.Ala680=) n.233C>G n.609C>G c.8277C>G (p.Ala2759=) c.8274C>G (p.Ala2758=) c.8055C>G (p.Ala2685=) c.6264C>G (p.Ala2088=) c.5814C>G (p.Ala1938=) c.5022C>G (p.Ala1674=) c.8184C>G (p.Ala2728=) | ClinVar |
8 | g.60865126C>T | CA461105783 | CHD7 | n.1363C>T n.294C>T c.*1246C>T (n.*1246C>T) c.8187C>T (p.Ala2729=) c.2040C>T (p.Ala680=) n.233C>T n.609C>T c.8277C>T (p.Ala2759=) c.8274C>T (p.Ala2758=) c.8055C>T (p.Ala2685=) c.6264C>T (p.Ala2088=) c.5814C>T (p.Ala1938=) c.5022C>T (p.Ala1674=) c.8184C>T (p.Ala2728=) | ClinVar dbSNP gnomAD v4 |
8 | g.60865127G>A | CA4760961 | CHD7 | n.1364G>A n.295G>A c.*1247G>A (n.*1247G>A) c.8188G>A (p.Ala2730Thr) c.2041G>A (p.Ala681Thr) n.234G>A n.610G>A c.8278G>A (p.Ala2760Thr) c.8275G>A (p.Ala2759Thr) c.8056G>A (p.Ala2686Thr) c.6265G>A (p.Ala2089Thr) c.5815G>A (p.Ala1939Thr) c.5023G>A (p.Ala1675Thr) c.8185G>A (p.Ala2729Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865127G>C | CA371307627 | CHD7 | n.1364G>C n.295G>C c.*1247G>C (n.*1247G>C) c.8188G>C (p.Ala2730Pro) c.2041G>C (p.Ala681Pro) n.234G>C n.610G>C c.8278G>C (p.Ala2760Pro) c.8275G>C (p.Ala2759Pro) c.8056G>C (p.Ala2686Pro) c.6265G>C (p.Ala2089Pro) c.5815G>C (p.Ala1939Pro) c.5023G>C (p.Ala1675Pro) c.8185G>C (p.Ala2729Pro) | |
8 | g.60865127G= | CA1788129222 | CHD7 | n.1364G= n.295G= c.*1247G= (n.*1247G=) c.8188G= (p.Ala2730=) c.2041G= (p.Ala681=) n.234G= n.610G= c.8278G= (p.Ala2760=) c.8275G= (p.Ala2759=) c.8056G= (p.Ala2686=) c.6265G= (p.Ala2089=) c.5815G= (p.Ala1939=) c.5023G= (p.Ala1675=) c.8185G= (p.Ala2729=) | |
8 | g.60865127G>T | CA371307624 | CHD7 | n.1364G>T n.295G>T c.*1247G>T (n.*1247G>T) c.8188G>T (p.Ala2730Ser) c.2041G>T (p.Ala681Ser) n.234G>T n.610G>T c.8278G>T (p.Ala2760Ser) c.8275G>T (p.Ala2759Ser) c.8056G>T (p.Ala2686Ser) c.6265G>T (p.Ala2089Ser) c.5815G>T (p.Ala1939Ser) c.5023G>T (p.Ala1675Ser) c.8185G>T (p.Ala2729Ser) | |
8 | g.60865127_60865128insTGG | CA2687403541 | CHD7 | n.1364_1365insTGG n.295_296insTGG c.*1247_*1248insTGG (n.*1247_*1248insTGG) c.8188_8189insTGG (p.Ala2729_Ala2730insVal) c.2041_2042insTGG (p.Ala680_Ala681insVal) n.234_235insTGG n.610_611insTGG c.8278_8279insTGG (p.Ala2759_Ala2760insVal) c.8275_8276insTGG (p.Ala2758_Ala2759insVal) c.8056_8057insTGG (p.Ala2685_Ala2686insVal) c.6265_6266insTGG (p.Ala2088_Ala2089insVal) c.5815_5816insTGG (p.Ala1938_Ala1939insVal) c.5023_5024insTGG (p.Ala1674_Ala1675insVal) c.8185_8186insTGG (p.Ala2728_Ala2729insVal) | gnomAD v4 |
8 | g.60865128C>A | CA4760963 | CHD7 | n.1365C>A n.296C>A c.*1248C>A (n.*1248C>A) c.8189C>A (p.Ala2730Glu) c.2042C>A (p.Ala681Glu) n.235C>A n.611C>A c.8279C>A (p.Ala2760Glu) c.8276C>A (p.Ala2759Glu) c.8057C>A (p.Ala2686Glu) c.6266C>A (p.Ala2089Glu) c.5816C>A (p.Ala1939Glu) c.5024C>A (p.Ala1675Glu) c.8186C>A (p.Ala2729Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865128C= | CA1788129228 | CHD7 | n.1365C= n.296C= c.*1248C= (n.*1248C=) c.8189C= (p.Ala2730=) c.2042C= (p.Ala681=) n.235C= n.611C= c.8279C= (p.Ala2760=) c.8276C= (p.Ala2759=) c.8057C= (p.Ala2686=) c.6266C= (p.Ala2089=) c.5816C= (p.Ala1939=) c.5024C= (p.Ala1675=) c.8186C= (p.Ala2729=) | |
8 | g.60865128C>G | CA371307630 | CHD7 | n.1365C>G n.296C>G c.*1248C>G (n.*1248C>G) c.8189C>G (p.Ala2730Gly) c.2042C>G (p.Ala681Gly) n.235C>G n.611C>G c.8279C>G (p.Ala2760Gly) c.8276C>G (p.Ala2759Gly) c.8057C>G (p.Ala2686Gly) c.6266C>G (p.Ala2089Gly) c.5816C>G (p.Ala1939Gly) c.5024C>G (p.Ala1675Gly) c.8186C>G (p.Ala2729Gly) | |
8 | g.60865128C>T | CA4760962 | CHD7 | n.1365C>T n.296C>T c.*1248C>T (n.*1248C>T) c.8189C>T (p.Ala2730Val) c.2042C>T (p.Ala681Val) n.235C>T n.611C>T c.8279C>T (p.Ala2760Val) c.8276C>T (p.Ala2759Val) c.8057C>T (p.Ala2686Val) c.6266C>T (p.Ala2089Val) c.5816C>T (p.Ala1939Val) c.5024C>T (p.Ala1675Val) c.8186C>T (p.Ala2729Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865129G>A | CA233740 | CHD7 | n.1366G>A n.297G>A c.*1249G>A (n.*1249G>A) c.8190G>A (p.Ala2730=) c.2043G>A (p.Ala681=) n.236G>A n.612G>A c.8280G>A (p.Ala2760=) c.8277G>A (p.Ala2759=) c.8058G>A (p.Ala2686=) c.6267G>A (p.Ala2089=) c.5817G>A (p.Ala1939=) c.5025G>A (p.Ala1675=) c.8187G>A (p.Ala2729=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865129G>C | CA461105786 | CHD7 | n.1366G>C n.297G>C c.*1249G>C (n.*1249G>C) c.8190G>C (p.Ala2730=) c.2043G>C (p.Ala681=) n.236G>C n.612G>C c.8280G>C (p.Ala2760=) c.8277G>C (p.Ala2759=) c.8058G>C (p.Ala2686=) c.6267G>C (p.Ala2089=) c.5817G>C (p.Ala1939=) c.5025G>C (p.Ala1675=) c.8187G>C (p.Ala2729=) | gnomAD v4 |
8 | g.60865129G= | CA1788129240 | CHD7 | n.1366G= n.297G= c.*1249G= (n.*1249G=) c.8190G= (p.Ala2730=) c.2043G= (p.Ala681=) n.236G= n.612G= c.8280G= (p.Ala2760=) c.8277G= (p.Ala2759=) c.8058G= (p.Ala2686=) c.6267G= (p.Ala2089=) c.5817G= (p.Ala1939=) c.5025G= (p.Ala1675=) c.8187G= (p.Ala2729=) | |
8 | g.60865129G>T | CA4760964 | CHD7 | n.1366G>T n.297G>T c.*1249G>T (n.*1249G>T) c.8190G>T (p.Ala2730=) c.2043G>T (p.Ala681=) n.236G>T n.612G>T c.8280G>T (p.Ala2760=) c.8277G>T (p.Ala2759=) c.8058G>T (p.Ala2686=) c.6267G>T (p.Ala2089=) c.5817G>T (p.Ala1939=) c.5025G>T (p.Ala1675=) c.8187G>T (p.Ala2729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865133_60865147del | CA2687403550 | CHD7 | n.1370_1384del n.301_315del c.*1253_*1267del (n.*1253_*1267del) c.8194_8208del (p.Ala2732_Ala2736del) c.2047_2061del (p.Ala683_Ala687del) n.240_254del c.8284_8298del (p.Ala2762_Ala2766del) c.8281_8295del (p.Ala2761_Ala2765del) c.8062_8076del (p.Ala2688_Ala2692del) c.6271_6285del (p.Ala2091_Ala2095del) c.5821_5835del (p.Ala1941_Ala1945del) c.5029_5043del (p.Ala1677_Ala1681del) c.8191_8205del (p.Ala2731_Ala2735del) | gnomAD v4 |
8 | g.60865130G>A | CA371307638 | CHD7 | n.1367G>A n.298G>A c.*1250G>A (n.*1250G>A) c.8191G>A (p.Ala2731Thr) c.2044G>A (p.Ala682Thr) n.237G>A n.613G>A c.8281G>A (p.Ala2761Thr) c.8278G>A (p.Ala2760Thr) c.8059G>A (p.Ala2687Thr) c.6268G>A (p.Ala2090Thr) c.5818G>A (p.Ala1940Thr) c.5026G>A (p.Ala1676Thr) c.8188G>A (p.Ala2730Thr) | ClinVar |
8 | g.60865130G>C | CA371307642 | CHD7 | n.1367G>C n.298G>C c.*1250G>C (n.*1250G>C) c.8191G>C (p.Ala2731Pro) c.2044G>C (p.Ala682Pro) n.237G>C n.613G>C c.8281G>C (p.Ala2761Pro) c.8278G>C (p.Ala2760Pro) c.8059G>C (p.Ala2687Pro) c.6268G>C (p.Ala2090Pro) c.5818G>C (p.Ala1940Pro) c.5026G>C (p.Ala1676Pro) c.8188G>C (p.Ala2730Pro) | |
8 | g.60865130G>T | CA371307640 | CHD7 | n.1367G>T n.298G>T c.*1250G>T (n.*1250G>T) c.8191G>T (p.Ala2731Ser) c.2044G>T (p.Ala682Ser) n.237G>T n.613G>T c.8281G>T (p.Ala2761Ser) c.8278G>T (p.Ala2760Ser) c.8059G>T (p.Ala2687Ser) c.6268G>T (p.Ala2090Ser) c.5818G>T (p.Ala1940Ser) c.5026G>T (p.Ala1676Ser) c.8188G>T (p.Ala2730Ser) | |
8 | g.60865131C>A | CA371307643 | CHD7 | n.1368C>A n.299C>A c.*1251C>A (n.*1251C>A) c.8192C>A (p.Ala2731Asp) c.2045C>A (p.Ala682Asp) n.238C>A n.614C>A c.8282C>A (p.Ala2761Asp) c.8279C>A (p.Ala2760Asp) c.8060C>A (p.Ala2687Asp) c.6269C>A (p.Ala2090Asp) c.5819C>A (p.Ala1940Asp) c.5027C>A (p.Ala1676Asp) c.8189C>A (p.Ala2730Asp) | |
8 | g.60865131C= | CA1788129245 | CHD7 | n.1368C= n.299C= c.*1251C= (n.*1251C=) c.8192C= (p.Ala2731=) c.2045C= (p.Ala682=) n.238C= n.614C= c.8282C= (p.Ala2761=) c.8279C= (p.Ala2760=) c.8060C= (p.Ala2687=) c.6269C= (p.Ala2090=) c.5819C= (p.Ala1940=) c.5027C= (p.Ala1676=) c.8189C= (p.Ala2730=) | |
8 | g.60865131C>G | CA371307646 | CHD7 | n.1368C>G n.299C>G c.*1251C>G (n.*1251C>G) c.8192C>G (p.Ala2731Gly) c.2045C>G (p.Ala682Gly) n.238C>G n.614C>G c.8282C>G (p.Ala2761Gly) c.8279C>G (p.Ala2760Gly) c.8060C>G (p.Ala2687Gly) c.6269C>G (p.Ala2090Gly) c.5819C>G (p.Ala1940Gly) c.5027C>G (p.Ala1676Gly) c.8189C>G (p.Ala2730Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865131C>T | CA371307644 | CHD7 | n.1368C>T n.299C>T c.*1251C>T (n.*1251C>T) c.8192C>T (p.Ala2731Val) c.2045C>T (p.Ala682Val) n.238C>T n.614C>T c.8282C>T (p.Ala2761Val) c.8279C>T (p.Ala2760Val) c.8060C>T (p.Ala2687Val) c.6269C>T (p.Ala2090Val) c.5819C>T (p.Ala1940Val) c.5027C>T (p.Ala1676Val) c.8189C>T (p.Ala2730Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865132C>A | CA461105790 | CHD7 | n.1369C>A n.300C>A c.*1252C>A (n.*1252C>A) c.8193C>A (p.Ala2731=) c.2046C>A (p.Ala682=) n.239C>A n.615C>A c.8283C>A (p.Ala2761=) c.8280C>A (p.Ala2760=) c.8061C>A (p.Ala2687=) c.6270C>A (p.Ala2090=) c.5820C>A (p.Ala1940=) c.5028C>A (p.Ala1676=) c.8190C>A (p.Ala2730=) | |
8 | g.60865132C= | CA1788129253 | CHD7 | n.1369C= n.300C= c.*1252C= (n.*1252C=) c.8193C= (p.Ala2731=) c.2046C= (p.Ala682=) n.239C= n.615C= c.8283C= (p.Ala2761=) c.8280C= (p.Ala2760=) c.8061C= (p.Ala2687=) c.6270C= (p.Ala2090=) c.5820C= (p.Ala1940=) c.5028C= (p.Ala1676=) c.8190C= (p.Ala2730=) | |
8 | g.60865132C>G | CA461105791 | CHD7 | n.1369C>G n.300C>G c.*1252C>G (n.*1252C>G) c.8193C>G (p.Ala2731=) c.2046C>G (p.Ala682=) n.239C>G n.615C>G c.8283C>G (p.Ala2761=) c.8280C>G (p.Ala2760=) c.8061C>G (p.Ala2687=) c.6270C>G (p.Ala2090=) c.5820C>G (p.Ala1940=) c.5028C>G (p.Ala1676=) c.8190C>G (p.Ala2730=) | gnomAD v4 |
8 | g.60865132C>T | CA4760965 | CHD7 | n.1369C>T n.300C>T c.*1252C>T (n.*1252C>T) c.8193C>T (p.Ala2731=) c.2046C>T (p.Ala682=) n.239C>T n.615C>T c.8283C>T (p.Ala2761=) c.8280C>T (p.Ala2760=) c.8061C>T (p.Ala2687=) c.6270C>T (p.Ala2090=) c.5820C>T (p.Ala1940=) c.5028C>T (p.Ala1676=) c.8190C>T (p.Ala2730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865133G>A | CA371307649 | CHD7 | n.1370G>A n.301G>A c.*1253G>A (n.*1253G>A) c.8194G>A (p.Ala2732Thr) c.2047G>A (p.Ala683Thr) n.240G>A n.616G>A c.8284G>A (p.Ala2762Thr) c.8281G>A (p.Ala2761Thr) c.8062G>A (p.Ala2688Thr) c.6271G>A (p.Ala2091Thr) c.5821G>A (p.Ala1941Thr) c.5029G>A (p.Ala1677Thr) c.8191G>A (p.Ala2731Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.60865133G>C | CA371307648 | CHD7 | n.1370G>C n.301G>C c.*1253G>C (n.*1253G>C) c.8194G>C (p.Ala2732Pro) c.2047G>C (p.Ala683Pro) n.240G>C n.616G>C c.8284G>C (p.Ala2762Pro) c.8281G>C (p.Ala2761Pro) c.8062G>C (p.Ala2688Pro) c.6271G>C (p.Ala2091Pro) c.5821G>C (p.Ala1941Pro) c.5029G>C (p.Ala1677Pro) c.8191G>C (p.Ala2731Pro) | |
8 | g.60865133G= | CA1788129259 | CHD7 | n.1370G= n.301G= c.*1253G= (n.*1253G=) c.8194G= (p.Ala2732=) c.2047G= (p.Ala683=) n.240G= n.616G= c.8284G= (p.Ala2762=) c.8281G= (p.Ala2761=) c.8062G= (p.Ala2688=) c.6271G= (p.Ala2091=) c.5821G= (p.Ala1941=) c.5029G= (p.Ala1677=) c.8191G= (p.Ala2731=) | |
8 | g.60865133G>T | CA371307652 | CHD7 | n.1370G>T n.301G>T c.*1253G>T (n.*1253G>T) c.8194G>T (p.Ala2732Ser) c.2047G>T (p.Ala683Ser) n.240G>T n.616G>T c.8284G>T (p.Ala2762Ser) c.8281G>T (p.Ala2761Ser) c.8062G>T (p.Ala2688Ser) c.6271G>T (p.Ala2091Ser) c.5821G>T (p.Ala1941Ser) c.5029G>T (p.Ala1677Ser) c.8191G>T (p.Ala2731Ser) | |
8 | g.60865134C>A | CA371307655 | CHD7 | n.1371C>A n.302C>A c.*1254C>A (n.*1254C>A) c.8195C>A (p.Ala2732Asp) c.2048C>A (p.Ala683Asp) n.241C>A c.8285C>A (p.Ala2762Asp) c.8282C>A (p.Ala2761Asp) c.8063C>A (p.Ala2688Asp) c.6272C>A (p.Ala2091Asp) c.5822C>A (p.Ala1941Asp) c.5030C>A (p.Ala1677Asp) c.8192C>A (p.Ala2731Asp) | |
8 | g.60865134C>G | CA371307659 | CHD7 | n.1371C>G n.302C>G c.*1254C>G (n.*1254C>G) c.8195C>G (p.Ala2732Gly) c.2048C>G (p.Ala683Gly) n.241C>G c.8285C>G (p.Ala2762Gly) c.8282C>G (p.Ala2761Gly) c.8063C>G (p.Ala2688Gly) c.6272C>G (p.Ala2091Gly) c.5822C>G (p.Ala1941Gly) c.5030C>G (p.Ala1677Gly) c.8192C>G (p.Ala2731Gly) | |
8 | g.60865134C>T | CA371307657 | CHD7 | n.1371C>T n.302C>T c.*1254C>T (n.*1254C>T) c.8195C>T (p.Ala2732Val) c.2048C>T (p.Ala683Val) n.241C>T c.8285C>T (p.Ala2762Val) c.8282C>T (p.Ala2761Val) c.8063C>T (p.Ala2688Val) c.6272C>T (p.Ala2091Val) c.5822C>T (p.Ala1941Val) c.5030C>T (p.Ala1677Val) c.8192C>T (p.Ala2731Val) | |
8 | g.60865135C>A | CA461105794 | CHD7 | n.1372C>A n.303C>A c.*1255C>A (n.*1255C>A) c.8196C>A (p.Ala2732=) c.2049C>A (p.Ala683=) n.242C>A c.8286C>A (p.Ala2762=) c.8283C>A (p.Ala2761=) c.8064C>A (p.Ala2688=) c.6273C>A (p.Ala2091=) c.5823C>A (p.Ala1941=) c.5031C>A (p.Ala1677=) c.8193C>A (p.Ala2731=) | |
8 | g.60865135C= | CA1788129263 | CHD7 | n.1372C= n.303C= c.*1255C= (n.*1255C=) c.8196C= (p.Ala2732=) c.2049C= (p.Ala683=) n.242C= c.8286C= (p.Ala2762=) c.8283C= (p.Ala2761=) c.8064C= (p.Ala2688=) c.6273C= (p.Ala2091=) c.5823C= (p.Ala1941=) c.5031C= (p.Ala1677=) c.8193C= (p.Ala2731=) | |
8 | g.60865135C>G | CA461105795 | CHD7 | n.1372C>G n.303C>G c.*1255C>G (n.*1255C>G) c.8196C>G (p.Ala2732=) c.2049C>G (p.Ala683=) n.242C>G c.8286C>G (p.Ala2762=) c.8283C>G (p.Ala2761=) c.8064C>G (p.Ala2688=) c.6273C>G (p.Ala2091=) c.5823C>G (p.Ala1941=) c.5031C>G (p.Ala1677=) c.8193C>G (p.Ala2731=) | ClinVar gnomAD v3 gnomAD v4 |
8 | g.60865135C>T | CA4760966 | CHD7 | n.1372C>T n.303C>T c.*1255C>T (n.*1255C>T) c.8196C>T (p.Ala2732=) c.2049C>T (p.Ala683=) n.242C>T c.8286C>T (p.Ala2762=) c.8283C>T (p.Ala2761=) c.8064C>T (p.Ala2688=) c.6273C>T (p.Ala2091=) c.5823C>T (p.Ala1941=) c.5031C>T (p.Ala1677=) c.8193C>T (p.Ala2731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865136G>A | CA4760967 | CHD7 | n.1373G>A n.304G>A c.*1256G>A (n.*1256G>A) c.8197G>A (p.Ala2733Thr) c.2050G>A (p.Ala684Thr) n.243G>A c.8287G>A (p.Ala2763Thr) c.8284G>A (p.Ala2762Thr) c.8065G>A (p.Ala2689Thr) c.6274G>A (p.Ala2092Thr) c.5824G>A (p.Ala1942Thr) c.5032G>A (p.Ala1678Thr) c.8194G>A (p.Ala2732Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865136G>C | CA371307663 | CHD7 | n.1373G>C n.304G>C c.*1256G>C (n.*1256G>C) c.8197G>C (p.Ala2733Pro) c.2050G>C (p.Ala684Pro) n.243G>C c.8287G>C (p.Ala2763Pro) c.8284G>C (p.Ala2762Pro) c.8065G>C (p.Ala2689Pro) c.6274G>C (p.Ala2092Pro) c.5824G>C (p.Ala1942Pro) c.5032G>C (p.Ala1678Pro) c.8194G>C (p.Ala2732Pro) | |
8 | g.60865136G= | CA1788129272 | CHD7 | n.1373G= n.304G= c.*1256G= (n.*1256G=) c.8197G= (p.Ala2733=) c.2050G= (p.Ala684=) n.243G= c.8287G= (p.Ala2763=) c.8284G= (p.Ala2762=) c.8065G= (p.Ala2689=) c.6274G= (p.Ala2092=) c.5824G= (p.Ala1942=) c.5032G= (p.Ala1678=) c.8194G= (p.Ala2732=) | |
8 | g.60865136G>T | CA371307665 | CHD7 | n.1373G>T n.304G>T c.*1256G>T (n.*1256G>T) c.8197G>T (p.Ala2733Ser) c.2050G>T (p.Ala684Ser) n.243G>T c.8287G>T (p.Ala2763Ser) c.8284G>T (p.Ala2762Ser) c.8065G>T (p.Ala2689Ser) c.6274G>T (p.Ala2092Ser) c.5824G>T (p.Ala1942Ser) c.5032G>T (p.Ala1678Ser) c.8194G>T (p.Ala2732Ser) | |
8 | g.60865137C>A | CA371307669 | CHD7 | n.1374C>A n.305C>A c.*1257C>A (n.*1257C>A) c.8198C>A (p.Ala2733Asp) c.2051C>A (p.Ala684Asp) n.244C>A c.8288C>A (p.Ala2763Asp) c.8285C>A (p.Ala2762Asp) c.8066C>A (p.Ala2689Asp) c.6275C>A (p.Ala2092Asp) c.5825C>A (p.Ala1942Asp) c.5033C>A (p.Ala1678Asp) c.8195C>A (p.Ala2732Asp) | ClinVar |
8 | g.60865137C>G | CA371307671 | CHD7 | n.1374C>G n.305C>G c.*1257C>G (n.*1257C>G) c.8198C>G (p.Ala2733Gly) c.2051C>G (p.Ala684Gly) n.244C>G c.8288C>G (p.Ala2763Gly) c.8285C>G (p.Ala2762Gly) c.8066C>G (p.Ala2689Gly) c.6275C>G (p.Ala2092Gly) c.5825C>G (p.Ala1942Gly) c.5033C>G (p.Ala1678Gly) c.8195C>G (p.Ala2732Gly) | |
8 | g.60865137C>T | CA371307677 | CHD7 | n.1374C>T n.305C>T c.*1257C>T (n.*1257C>T) c.8198C>T (p.Ala2733Val) c.2051C>T (p.Ala684Val) n.244C>T c.8288C>T (p.Ala2763Val) c.8285C>T (p.Ala2762Val) c.8066C>T (p.Ala2689Val) c.6275C>T (p.Ala2092Val) c.5825C>T (p.Ala1942Val) c.5033C>T (p.Ala1678Val) c.8195C>T (p.Ala2732Val) | |
8 | g.60865138_60865152dup | CA853921875 | CHD7 | n.1375_1389dup n.306_320dup c.*1258_*1272dup (n.*1258_*1272dup) c.8199_8213dup (p.Thr2738_Ser2739insAlaValAlaSerThr) c.2052_2066dup (p.Thr689_Ser690insAlaValAlaSerThr) n.245_259dup c.8289_8303dup (p.Thr2768_Ser2769insAlaValAlaSerThr) c.8286_8300dup (p.Thr2767_Ser2768insAlaValAlaSerThr) c.8067_8081dup (p.Thr2694_Ser2695insAlaValAlaSerThr) c.6276_6290dup (p.Thr2097_Ser2098insAlaValAlaSerThr) c.5826_5840dup (p.Thr1947_Ser1948insAlaValAlaSerThr) c.5034_5048dup (p.Thr1683_Ser1684insAlaValAlaSerThr) c.8196_8210dup (p.Thr2737_Ser2738insAlaValAlaSerThr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865138T>A | CA461105801 | CHD7 | n.1375T>A n.306T>A c.*1258T>A (n.*1258T>A) c.8199T>A (p.Ala2733=) c.2052T>A (p.Ala684=) n.245T>A c.8289T>A (p.Ala2763=) c.8286T>A (p.Ala2762=) c.8067T>A (p.Ala2689=) c.6276T>A (p.Ala2092=) c.5826T>A (p.Ala1942=) c.5034T>A (p.Ala1678=) c.8196T>A (p.Ala2732=) | |
8 | g.60865138T>C | CA10582587 | CHD7 | n.1375T>C n.306T>C c.*1258T>C (n.*1258T>C) c.8199T>C (p.Ala2733=) c.2052T>C (p.Ala684=) n.245T>C c.8289T>C (p.Ala2763=) c.8286T>C (p.Ala2762=) c.8067T>C (p.Ala2689=) c.6276T>C (p.Ala2092=) c.5826T>C (p.Ala1942=) c.5034T>C (p.Ala1678=) c.8196T>C (p.Ala2732=) | ClinVar dbSNP |
8 | g.60865138T>G | CA461105802 | CHD7 | n.1375T>G n.306T>G c.*1258T>G (n.*1258T>G) c.8199T>G (p.Ala2733=) c.2052T>G (p.Ala684=) n.245T>G c.8289T>G (p.Ala2763=) c.8286T>G (p.Ala2762=) c.8067T>G (p.Ala2689=) c.6276T>G (p.Ala2092=) c.5826T>G (p.Ala1942=) c.5034T>G (p.Ala1678=) c.8196T>G (p.Ala2732=) | |
8 | g.60865138T= | CA1788129284 | CHD7 | n.1375T= n.306T= c.*1258T= (n.*1258T=) c.8199T= (p.Ala2733=) c.2052T= (p.Ala684=) n.245T= c.8289T= (p.Ala2763=) c.8286T= (p.Ala2762=) c.8067T= (p.Ala2689=) c.6276T= (p.Ala2092=) c.5826T= (p.Ala1942=) c.5034T= (p.Ala1678=) c.8196T= (p.Ala2732=) | |
8 | g.60865139G>A | CA371307681 | CHD7 | n.1376G>A n.307G>A c.*1259G>A (n.*1259G>A) c.8200G>A (p.Ala2734Thr) c.2053G>A (p.Ala685Thr) n.246G>A c.8290G>A (p.Ala2764Thr) c.8287G>A (p.Ala2763Thr) c.8068G>A (p.Ala2690Thr) c.6277G>A (p.Ala2093Thr) c.5827G>A (p.Ala1943Thr) c.5035G>A (p.Ala1679Thr) c.8197G>A (p.Ala2733Thr) | |
8 | g.60865139G>C | CA371307682 | CHD7 | n.1376G>C n.307G>C c.*1259G>C (n.*1259G>C) c.8200G>C (p.Ala2734Pro) c.2053G>C (p.Ala685Pro) n.246G>C c.8290G>C (p.Ala2764Pro) c.8287G>C (p.Ala2763Pro) c.8068G>C (p.Ala2690Pro) c.6277G>C (p.Ala2093Pro) c.5827G>C (p.Ala1943Pro) c.5035G>C (p.Ala1679Pro) c.8197G>C (p.Ala2733Pro) | |
8 | g.60865139G>T | CA371307688 | CHD7 | n.1376G>T n.307G>T c.*1259G>T (n.*1259G>T) c.8200G>T (p.Ala2734Ser) c.2053G>T (p.Ala685Ser) n.246G>T c.8290G>T (p.Ala2764Ser) c.8287G>T (p.Ala2763Ser) c.8068G>T (p.Ala2690Ser) c.6277G>T (p.Ala2093Ser) c.5827G>T (p.Ala1943Ser) c.5035G>T (p.Ala1679Ser) c.8197G>T (p.Ala2733Ser) | |
8 | g.60865140C>A | CA371307696 | CHD7 | n.1377C>A n.308C>A c.*1260C>A (n.*1260C>A) c.8201C>A (p.Ala2734Asp) c.2054C>A (p.Ala685Asp) n.247C>A c.8291C>A (p.Ala2764Asp) c.8288C>A (p.Ala2763Asp) c.8069C>A (p.Ala2690Asp) c.6278C>A (p.Ala2093Asp) c.5828C>A (p.Ala1943Asp) c.5036C>A (p.Ala1679Asp) c.8198C>A (p.Ala2733Asp) | |
8 | g.60865140C>G | CA371307694 | CHD7 | n.1377C>G n.308C>G c.*1260C>G (n.*1260C>G) c.8201C>G (p.Ala2734Gly) c.2054C>G (p.Ala685Gly) n.247C>G c.8291C>G (p.Ala2764Gly) c.8288C>G (p.Ala2763Gly) c.8069C>G (p.Ala2690Gly) c.6278C>G (p.Ala2093Gly) c.5828C>G (p.Ala1943Gly) c.5036C>G (p.Ala1679Gly) c.8198C>G (p.Ala2733Gly) | |
8 | g.60865140C>T | CA371307692 | CHD7 | n.1377C>T n.308C>T c.*1260C>T (n.*1260C>T) c.8201C>T (p.Ala2734Val) c.2054C>T (p.Ala685Val) n.247C>T c.8291C>T (p.Ala2764Val) c.8288C>T (p.Ala2763Val) c.8069C>T (p.Ala2690Val) c.6278C>T (p.Ala2093Val) c.5828C>T (p.Ala1943Val) c.5036C>T (p.Ala1679Val) c.8198C>T (p.Ala2733Val) | |
8 | g.60865141T>A | CA461105806 | CHD7 | n.1378T>A n.309T>A c.*1261T>A (n.*1261T>A) c.8202T>A (p.Ala2734=) c.2055T>A (p.Ala685=) n.248T>A c.8292T>A (p.Ala2764=) c.8289T>A (p.Ala2763=) c.8070T>A (p.Ala2690=) c.6279T>A (p.Ala2093=) c.5829T>A (p.Ala1943=) c.5037T>A (p.Ala1679=) c.8199T>A (p.Ala2733=) | |
8 | g.60865141T>C | CA461105807 | CHD7 | n.1378T>C n.309T>C c.*1261T>C (n.*1261T>C) c.8202T>C (p.Ala2734=) c.2055T>C (p.Ala685=) n.248T>C c.8292T>C (p.Ala2764=) c.8289T>C (p.Ala2763=) c.8070T>C (p.Ala2690=) c.6279T>C (p.Ala2093=) c.5829T>C (p.Ala1943=) c.5037T>C (p.Ala1679=) c.8199T>C (p.Ala2733=) | ClinVar |
8 | g.60865141T>G | CA461105808 | CHD7 | n.1378T>G n.309T>G c.*1261T>G (n.*1261T>G) c.8202T>G (p.Ala2734=) c.2055T>G (p.Ala685=) n.248T>G c.8292T>G (p.Ala2764=) c.8289T>G (p.Ala2763=) c.8070T>G (p.Ala2690=) c.6279T>G (p.Ala2093=) c.5829T>G (p.Ala1943=) c.5037T>G (p.Ala1679=) c.8199T>G (p.Ala2733=) | |
8 | g.60865142G>A | CA371307700 | CHD7 | n.1379G>A n.310G>A c.*1262G>A (n.*1262G>A) c.8203G>A (p.Val2735Met) c.2056G>A (p.Val686Met) n.249G>A c.8293G>A (p.Val2765Met) c.8290G>A (p.Val2764Met) c.8071G>A (p.Val2691Met) c.6280G>A (p.Val2094Met) c.5830G>A (p.Val1944Met) c.5038G>A (p.Val1680Met) c.8200G>A (p.Val2734Met) | gnomAD v4 |
8 | g.60865142G>C | CA371307702 | CHD7 | n.1379G>C n.310G>C c.*1262G>C (n.*1262G>C) c.8203G>C (p.Val2735Leu) c.2056G>C (p.Val686Leu) n.249G>C c.8293G>C (p.Val2765Leu) c.8290G>C (p.Val2764Leu) c.8071G>C (p.Val2691Leu) c.6280G>C (p.Val2094Leu) c.5830G>C (p.Val1944Leu) c.5038G>C (p.Val1680Leu) c.8200G>C (p.Val2734Leu) | |
8 | g.60865142G>T | CA371307705 | CHD7 | n.1379G>T n.310G>T c.*1262G>T (n.*1262G>T) c.8203G>T (p.Val2735Leu) c.2056G>T (p.Val686Leu) n.249G>T c.8293G>T (p.Val2765Leu) c.8290G>T (p.Val2764Leu) c.8071G>T (p.Val2691Leu) c.6280G>T (p.Val2094Leu) c.5830G>T (p.Val1944Leu) c.5038G>T (p.Val1680Leu) c.8200G>T (p.Val2734Leu) | |
8 | g.60865143T>A | CA371307708 | CHD7 | n.1380T>A n.311T>A c.*1263T>A (n.*1263T>A) c.8204T>A (p.Val2735Glu) c.2057T>A (p.Val686Glu) n.250T>A c.8294T>A (p.Val2765Glu) c.8291T>A (p.Val2764Glu) c.8072T>A (p.Val2691Glu) c.6281T>A (p.Val2094Glu) c.5831T>A (p.Val1944Glu) c.5039T>A (p.Val1680Glu) c.8201T>A (p.Val2734Glu) | |
8 | g.60865143T>C | CA371307710 | CHD7 | n.1380T>C n.311T>C c.*1263T>C (n.*1263T>C) c.8204T>C (p.Val2735Ala) c.2057T>C (p.Val686Ala) n.250T>C c.8294T>C (p.Val2765Ala) c.8291T>C (p.Val2764Ala) c.8072T>C (p.Val2691Ala) c.6281T>C (p.Val2094Ala) c.5831T>C (p.Val1944Ala) c.5039T>C (p.Val1680Ala) c.8201T>C (p.Val2734Ala) | gnomAD v4 |
8 | g.60865143T>G | CA371307712 | CHD7 | n.1380T>G n.311T>G c.*1263T>G (n.*1263T>G) c.8204T>G (p.Val2735Gly) c.2057T>G (p.Val686Gly) n.250T>G c.8294T>G (p.Val2765Gly) c.8291T>G (p.Val2764Gly) c.8072T>G (p.Val2691Gly) c.6281T>G (p.Val2094Gly) c.5831T>G (p.Val1944Gly) c.5039T>G (p.Val1680Gly) c.8201T>G (p.Val2734Gly) | |
8 | g.60865144G>A | CA461105809 | CHD7 | n.1381G>A n.312G>A c.*1264G>A (n.*1264G>A) c.8205G>A (p.Val2735=) c.2058G>A (p.Val686=) n.251G>A c.8295G>A (p.Val2765=) c.8292G>A (p.Val2764=) c.8073G>A (p.Val2691=) c.6282G>A (p.Val2094=) c.5832G>A (p.Val1944=) c.5040G>A (p.Val1680=) c.8202G>A (p.Val2734=) | gnomAD v4 |
8 | g.60865144G>C | CA461105810 | CHD7 | n.1381G>C n.312G>C c.*1264G>C (n.*1264G>C) c.8205G>C (p.Val2735=) c.2058G>C (p.Val686=) n.251G>C c.8295G>C (p.Val2765=) c.8292G>C (p.Val2764=) c.8073G>C (p.Val2691=) c.6282G>C (p.Val2094=) c.5832G>C (p.Val1944=) c.5040G>C (p.Val1680=) c.8202G>C (p.Val2734=) | |
8 | g.60865144G>T | CA461105811 | CHD7 | n.1381G>T n.312G>T c.*1264G>T (n.*1264G>T) c.8205G>T (p.Val2735=) c.2058G>T (p.Val686=) n.251G>T c.8295G>T (p.Val2765=) c.8292G>T (p.Val2764=) c.8073G>T (p.Val2691=) c.6282G>T (p.Val2094=) c.5832G>T (p.Val1944=) c.5040G>T (p.Val1680=) c.8202G>T (p.Val2734=) | COSMIC |
8 | g.60865145G>A | CA371307715 | CHD7 | n.1382G>A n.313G>A c.*1265G>A (n.*1265G>A) c.8206G>A (p.Ala2736Thr) c.2059G>A (p.Ala687Thr) n.252G>A c.8296G>A (p.Ala2766Thr) c.8293G>A (p.Ala2765Thr) c.8074G>A (p.Ala2692Thr) c.6283G>A (p.Ala2095Thr) c.5833G>A (p.Ala1945Thr) c.5041G>A (p.Ala1681Thr) c.8203G>A (p.Ala2735Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865145G>C | CA371307717 | CHD7 | n.1382G>C n.313G>C c.*1265G>C (n.*1265G>C) c.8206G>C (p.Ala2736Pro) c.2059G>C (p.Ala687Pro) n.252G>C c.8296G>C (p.Ala2766Pro) c.8293G>C (p.Ala2765Pro) c.8074G>C (p.Ala2692Pro) c.6283G>C (p.Ala2095Pro) c.5833G>C (p.Ala1945Pro) c.5041G>C (p.Ala1681Pro) c.8203G>C (p.Ala2735Pro) | gnomAD v4 |
8 | g.60865145G= | CA1788129288 | CHD7 | n.1382G= n.313G= c.*1265G= (n.*1265G=) c.8206G= (p.Ala2736=) c.2059G= (p.Ala687=) n.252G= c.8296G= (p.Ala2766=) c.8293G= (p.Ala2765=) c.8074G= (p.Ala2692=) c.6283G= (p.Ala2095=) c.5833G= (p.Ala1945=) c.5041G= (p.Ala1681=) c.8203G= (p.Ala2735=) | |
8 | g.60865145G>T | CA371307718 | CHD7 | n.1382G>T n.313G>T c.*1265G>T (n.*1265G>T) c.8206G>T (p.Ala2736Ser) c.2059G>T (p.Ala687Ser) n.252G>T c.8296G>T (p.Ala2766Ser) c.8293G>T (p.Ala2765Ser) c.8074G>T (p.Ala2692Ser) c.6283G>T (p.Ala2095Ser) c.5833G>T (p.Ala1945Ser) c.5041G>T (p.Ala1681Ser) c.8203G>T (p.Ala2735Ser) | |
8 | g.60865146C>A | CA371307720 | CHD7 | n.1383C>A n.314C>A c.*1266C>A (n.*1266C>A) c.8207C>A (p.Ala2736Asp) c.2060C>A (p.Ala687Asp) n.253C>A c.8297C>A (p.Ala2766Asp) c.8294C>A (p.Ala2765Asp) c.8075C>A (p.Ala2692Asp) c.6284C>A (p.Ala2095Asp) c.5834C>A (p.Ala1945Asp) c.5042C>A (p.Ala1681Asp) c.8204C>A (p.Ala2735Asp) | |
8 | g.60865146C>G | CA371307722 | CHD7 | n.1383C>G n.314C>G c.*1266C>G (n.*1266C>G) c.8207C>G (p.Ala2736Gly) c.2060C>G (p.Ala687Gly) n.253C>G c.8297C>G (p.Ala2766Gly) c.8294C>G (p.Ala2765Gly) c.8075C>G (p.Ala2692Gly) c.6284C>G (p.Ala2095Gly) c.5834C>G (p.Ala1945Gly) c.5042C>G (p.Ala1681Gly) c.8204C>G (p.Ala2735Gly) | |
8 | g.60865146C>T | CA371307724 | CHD7 | n.1383C>T n.314C>T c.*1266C>T (n.*1266C>T) c.8207C>T (p.Ala2736Val) c.2060C>T (p.Ala687Val) n.253C>T c.8297C>T (p.Ala2766Val) c.8294C>T (p.Ala2765Val) c.8075C>T (p.Ala2692Val) c.6284C>T (p.Ala2095Val) c.5834C>T (p.Ala1945Val) c.5042C>T (p.Ala1681Val) c.8204C>T (p.Ala2735Val) | |
8 | g.60865147C>A | CA461105812 | CHD7 | n.1384C>A n.315C>A c.*1267C>A (n.*1267C>A) c.8208C>A (p.Ala2736=) c.2061C>A (p.Ala687=) n.254C>A c.8298C>A (p.Ala2766=) c.8295C>A (p.Ala2765=) c.8076C>A (p.Ala2692=) c.6285C>A (p.Ala2095=) c.5835C>A (p.Ala1945=) c.5043C>A (p.Ala1681=) c.8205C>A (p.Ala2735=) | |
8 | g.60865147C= | CA1788129295 | CHD7 | n.1384C= n.315C= c.*1267C= (n.*1267C=) c.8208C= (p.Ala2736=) c.2061C= (p.Ala687=) n.254C= c.8298C= (p.Ala2766=) c.8295C= (p.Ala2765=) c.8076C= (p.Ala2692=) c.6285C= (p.Ala2095=) c.5835C= (p.Ala1945=) c.5043C= (p.Ala1681=) c.8205C= (p.Ala2735=) | |
8 | g.60865147C>G | CA461105813 | CHD7 | n.1384C>G n.315C>G c.*1267C>G (n.*1267C>G) c.8208C>G (p.Ala2736=) c.2061C>G (p.Ala687=) n.254C>G c.8298C>G (p.Ala2766=) c.8295C>G (p.Ala2765=) c.8076C>G (p.Ala2692=) c.6285C>G (p.Ala2095=) c.5835C>G (p.Ala1945=) c.5043C>G (p.Ala1681=) c.8205C>G (p.Ala2735=) | |
8 | g.60865147C>T | CA461105814 | CHD7 | n.1384C>T n.315C>T c.*1267C>T (n.*1267C>T) c.8208C>T (p.Ala2736=) c.2061C>T (p.Ala687=) n.254C>T c.8298C>T (p.Ala2766=) c.8295C>T (p.Ala2765=) c.8076C>T (p.Ala2692=) c.6285C>T (p.Ala2095=) c.5835C>T (p.Ala1945=) c.5043C>T (p.Ala1681=) c.8205C>T (p.Ala2735=) | ClinVar dbSNP gnomAD v4 |
8 | g.60865148T>A | CA371307732 | CHD7 | n.1385T>A n.316T>A c.*1268T>A (n.*1268T>A) c.8209T>A (p.Ser2737Thr) c.2062T>A (p.Ser688Thr) n.255T>A c.8299T>A (p.Ser2767Thr) c.8296T>A (p.Ser2766Thr) c.8077T>A (p.Ser2693Thr) c.6286T>A (p.Ser2096Thr) c.5836T>A (p.Ser1946Thr) c.5044T>A (p.Ser1682Thr) c.8206T>A (p.Ser2736Thr) | ClinVar |
8 | g.60865148T>C | CA371307730 | CHD7 | n.1385T>C n.316T>C c.*1268T>C (n.*1268T>C) c.8209T>C (p.Ser2737Pro) c.2062T>C (p.Ser688Pro) n.255T>C c.8299T>C (p.Ser2767Pro) c.8296T>C (p.Ser2766Pro) c.8077T>C (p.Ser2693Pro) c.6286T>C (p.Ser2096Pro) c.5836T>C (p.Ser1946Pro) c.5044T>C (p.Ser1682Pro) c.8206T>C (p.Ser2736Pro) | |
8 | g.60865148T>G | CA371307728 | CHD7 | n.1385T>G n.316T>G c.*1268T>G (n.*1268T>G) c.8209T>G (p.Ser2737Ala) c.2062T>G (p.Ser688Ala) n.255T>G c.8299T>G (p.Ser2767Ala) c.8296T>G (p.Ser2766Ala) c.8077T>G (p.Ser2693Ala) c.6286T>G (p.Ser2096Ala) c.5836T>G (p.Ser1946Ala) c.5044T>G (p.Ser1682Ala) c.8206T>G (p.Ser2736Ala) | |
8 | g.60865149C>A | CA371307738 | CHD7 | n.1386C>A n.317C>A c.*1269C>A (n.*1269C>A) c.8210C>A (p.Ser2737Tyr) c.2063C>A (p.Ser688Tyr) n.256C>A c.8300C>A (p.Ser2767Tyr) c.8297C>A (p.Ser2766Tyr) c.8078C>A (p.Ser2693Tyr) c.6287C>A (p.Ser2096Tyr) c.5837C>A (p.Ser1946Tyr) c.5045C>A (p.Ser1682Tyr) c.8207C>A (p.Ser2736Tyr) | |
8 | g.60865149C>G | CA371307734 | CHD7 | n.1386C>G n.317C>G c.*1269C>G (n.*1269C>G) c.8210C>G (p.Ser2737Cys) c.2063C>G (p.Ser688Cys) n.256C>G c.8300C>G (p.Ser2767Cys) c.8297C>G (p.Ser2766Cys) c.8078C>G (p.Ser2693Cys) c.6287C>G (p.Ser2096Cys) c.5837C>G (p.Ser1946Cys) c.5045C>G (p.Ser1682Cys) c.8207C>G (p.Ser2736Cys) | |
8 | g.60865149C>T | CA371307736 | CHD7 | n.1386C>T n.317C>T c.*1269C>T (n.*1269C>T) c.8210C>T (p.Ser2737Phe) c.2063C>T (p.Ser688Phe) n.256C>T c.8300C>T (p.Ser2767Phe) c.8297C>T (p.Ser2766Phe) c.8078C>T (p.Ser2693Phe) c.6287C>T (p.Ser2096Phe) c.5837C>T (p.Ser1946Phe) c.5045C>T (p.Ser1682Phe) c.8207C>T (p.Ser2736Phe) | |
8 | g.60865150C>A | CA461105818 | CHD7 | n.1387C>A n.318C>A c.*1270C>A (n.*1270C>A) c.8211C>A (p.Ser2737=) c.2064C>A (p.Ser688=) n.257C>A c.8301C>A (p.Ser2767=) c.8298C>A (p.Ser2766=) c.8079C>A (p.Ser2693=) c.6288C>A (p.Ser2096=) c.5838C>A (p.Ser1946=) c.5046C>A (p.Ser1682=) c.8208C>A (p.Ser2736=) | |
8 | g.60865150C= | CA1788129300 | CHD7 | n.1387C= n.318C= c.*1270C= (n.*1270C=) c.8211C= (p.Ser2737=) c.2064C= (p.Ser688=) n.257C= c.8301C= (p.Ser2767=) c.8298C= (p.Ser2766=) c.8079C= (p.Ser2693=) c.6288C= (p.Ser2096=) c.5838C= (p.Ser1946=) c.5046C= (p.Ser1682=) c.8208C= (p.Ser2736=) | |
8 | g.60865150C>G | CA461105817 | CHD7 | n.1387C>G n.318C>G c.*1270C>G (n.*1270C>G) c.8211C>G (p.Ser2737=) c.2064C>G (p.Ser688=) n.257C>G c.8301C>G (p.Ser2767=) c.8298C>G (p.Ser2766=) c.8079C>G (p.Ser2693=) c.6288C>G (p.Ser2096=) c.5838C>G (p.Ser1946=) c.5046C>G (p.Ser1682=) c.8208C>G (p.Ser2736=) | |
8 | g.60865150C>T | CA461105816 | CHD7 | n.1387C>T n.318C>T c.*1270C>T (n.*1270C>T) c.8211C>T (p.Ser2737=) c.2064C>T (p.Ser688=) n.257C>T c.8301C>T (p.Ser2767=) c.8298C>T (p.Ser2766=) c.8079C>T (p.Ser2693=) c.6288C>T (p.Ser2096=) c.5838C>T (p.Ser1946=) c.5046C>T (p.Ser1682=) c.8208C>T (p.Ser2736=) | dbSNP |
8 | g.60865151A>C | CA371307739 | CHD7 | n.1388A>C n.319A>C c.*1271A>C (n.*1271A>C) c.8212A>C (p.Thr2738Pro) c.2065A>C (p.Thr689Pro) n.258A>C c.8302A>C (p.Thr2768Pro) c.8299A>C (p.Thr2767Pro) c.8080A>C (p.Thr2694Pro) c.6289A>C (p.Thr2097Pro) c.5839A>C (p.Thr1947Pro) c.5047A>C (p.Thr1683Pro) c.8209A>C (p.Thr2737Pro) | gnomAD v4 |
8 | g.60865151A>G | CA371307742 | CHD7 | n.1388A>G n.319A>G c.*1271A>G (n.*1271A>G) c.8212A>G (p.Thr2738Ala) c.2065A>G (p.Thr689Ala) n.258A>G c.8302A>G (p.Thr2768Ala) c.8299A>G (p.Thr2767Ala) c.8080A>G (p.Thr2694Ala) c.6289A>G (p.Thr2097Ala) c.5839A>G (p.Thr1947Ala) c.5047A>G (p.Thr1683Ala) c.8209A>G (p.Thr2737Ala) | |
8 | g.60865151A>T | CA371307744 | CHD7 | n.1388A>T n.319A>T c.*1271A>T (n.*1271A>T) c.8212A>T (p.Thr2738Ser) c.2065A>T (p.Thr689Ser) n.258A>T c.8302A>T (p.Thr2768Ser) c.8299A>T (p.Thr2767Ser) c.8080A>T (p.Thr2694Ser) c.6289A>T (p.Thr2097Ser) c.5839A>T (p.Thr1947Ser) c.5047A>T (p.Thr1683Ser) c.8209A>T (p.Thr2737Ser) | |
8 | g.60865152C>A | CA371307748 | CHD7 | n.1389C>A n.320C>A c.*1272C>A (n.*1272C>A) c.8213C>A (p.Thr2738Lys) c.2066C>A (p.Thr689Lys) n.259C>A c.8303C>A (p.Thr2768Lys) c.8300C>A (p.Thr2767Lys) c.8081C>A (p.Thr2694Lys) c.6290C>A (p.Thr2097Lys) c.5840C>A (p.Thr1947Lys) c.5048C>A (p.Thr1683Lys) c.8210C>A (p.Thr2737Lys) | |
8 | g.60865152C= | CA1788129311 | CHD7 | n.1389C= n.320C= c.*1272C= (n.*1272C=) c.8213C= (p.Thr2738=) c.2066C= (p.Thr689=) n.259C= c.8303C= (p.Thr2768=) c.8300C= (p.Thr2767=) c.8081C= (p.Thr2694=) c.6290C= (p.Thr2097=) c.5840C= (p.Thr1947=) c.5048C= (p.Thr1683=) c.8210C= (p.Thr2737=) | |
8 | g.60865152C>G | CA371307752 | CHD7 | n.1389C>G n.320C>G c.*1272C>G (n.*1272C>G) c.8213C>G (p.Thr2738Arg) c.2066C>G (p.Thr689Arg) n.259C>G c.8303C>G (p.Thr2768Arg) c.8300C>G (p.Thr2767Arg) c.8081C>G (p.Thr2694Arg) c.6290C>G (p.Thr2097Arg) c.5840C>G (p.Thr1947Arg) c.5048C>G (p.Thr1683Arg) c.8210C>G (p.Thr2737Arg) | |
8 | g.60865152C>T | CA4760968 | CHD7 | n.1389C>T n.320C>T c.*1272C>T (n.*1272C>T) c.8213C>T (p.Thr2738Met) c.2066C>T (p.Thr689Met) n.259C>T c.8303C>T (p.Thr2768Met) c.8300C>T (p.Thr2767Met) c.8081C>T (p.Thr2694Met) c.6290C>T (p.Thr2097Met) c.5840C>T (p.Thr1947Met) c.5048C>T (p.Thr1683Met) c.8210C>T (p.Thr2737Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865153G>A | CA4760969 | CHD7 | n.1390G>A n.321G>A c.*1273G>A (n.*1273G>A) c.8214G>A (p.Thr2738=) c.2067G>A (p.Thr689=) n.260G>A c.8304G>A (p.Thr2768=) c.8301G>A (p.Thr2767=) c.8082G>A (p.Thr2694=) c.6291G>A (p.Thr2097=) c.5841G>A (p.Thr1947=) c.5049G>A (p.Thr1683=) c.8211G>A (p.Thr2737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865153G>C | CA461105820 | CHD7 | n.1390G>C n.321G>C c.*1273G>C (n.*1273G>C) c.8214G>C (p.Thr2738=) c.2067G>C (p.Thr689=) n.260G>C c.8304G>C (p.Thr2768=) c.8301G>C (p.Thr2767=) c.8082G>C (p.Thr2694=) c.6291G>C (p.Thr2097=) c.5841G>C (p.Thr1947=) c.5049G>C (p.Thr1683=) c.8211G>C (p.Thr2737=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865153G= | CA1788129321 | CHD7 | n.1390G= n.321G= c.*1273G= (n.*1273G=) c.8214G= (p.Thr2738=) c.2067G= (p.Thr689=) n.260G= c.8304G= (p.Thr2768=) c.8301G= (p.Thr2767=) c.8082G= (p.Thr2694=) c.6291G= (p.Thr2097=) c.5841G= (p.Thr1947=) c.5049G= (p.Thr1683=) c.8211G= (p.Thr2737=) | |
8 | g.60865153G>T | CA461105819 | CHD7 | n.1390G>T n.321G>T c.*1273G>T (n.*1273G>T) c.8214G>T (p.Thr2738=) c.2067G>T (p.Thr689=) n.260G>T c.8304G>T (p.Thr2768=) c.8301G>T (p.Thr2767=) c.8082G>T (p.Thr2694=) c.6291G>T (p.Thr2097=) c.5841G>T (p.Thr1947=) c.5049G>T (p.Thr1683=) c.8211G>T (p.Thr2737=) | |
8 | g.60865154T>A | CA371307755 | CHD7 | n.1391T>A n.322T>A c.*1274T>A (n.*1274T>A) c.8215T>A (p.Ser2739Thr) c.2068T>A (p.Ser690Thr) n.261T>A c.8305T>A (p.Ser2769Thr) c.8302T>A (p.Ser2768Thr) c.8083T>A (p.Ser2695Thr) c.6292T>A (p.Ser2098Thr) c.5842T>A (p.Ser1948Thr) c.5050T>A (p.Ser1684Thr) c.8212T>A (p.Ser2738Thr) | |
8 | g.60865154T>C | CA371307759 | CHD7 | n.1391T>C n.322T>C c.*1274T>C (n.*1274T>C) c.8215T>C (p.Ser2739Pro) c.2068T>C (p.Ser690Pro) n.261T>C c.8305T>C (p.Ser2769Pro) c.8302T>C (p.Ser2768Pro) c.8083T>C (p.Ser2695Pro) c.6292T>C (p.Ser2098Pro) c.5842T>C (p.Ser1948Pro) c.5050T>C (p.Ser1684Pro) c.8212T>C (p.Ser2738Pro) | |
8 | g.60865154T>G | CA371307761 | CHD7 | n.1391T>G n.322T>G c.*1274T>G (n.*1274T>G) c.8215T>G (p.Ser2739Ala) c.2068T>G (p.Ser690Ala) n.261T>G c.8305T>G (p.Ser2769Ala) c.8302T>G (p.Ser2768Ala) c.8083T>G (p.Ser2695Ala) c.6292T>G (p.Ser2098Ala) c.5842T>G (p.Ser1948Ala) c.5050T>G (p.Ser1684Ala) c.8212T>G (p.Ser2738Ala) | |
8 | g.60865155C>A | CA371307768 | CHD7 | n.1392C>A n.323C>A c.*1275C>A (n.*1275C>A) c.8216C>A (p.Ser2739Ter) c.2069C>A (p.Ser690Ter) n.262C>A c.8306C>A (p.Ser2769Ter) c.8303C>A (p.Ser2768Ter) c.8084C>A (p.Ser2695Ter) c.6293C>A (p.Ser2098Ter) c.5843C>A (p.Ser1948Ter) c.5051C>A (p.Ser1684Ter) c.8213C>A (p.Ser2738Ter) | gnomAD v4 |
8 | g.60865155C>G | CA371307766 | CHD7 | n.1392C>G n.323C>G c.*1275C>G (n.*1275C>G) c.8216C>G (p.Ser2739Ter) c.2069C>G (p.Ser690Ter) n.262C>G c.8306C>G (p.Ser2769Ter) c.8303C>G (p.Ser2768Ter) c.8084C>G (p.Ser2695Ter) c.6293C>G (p.Ser2098Ter) c.5843C>G (p.Ser1948Ter) c.5051C>G (p.Ser1684Ter) c.8213C>G (p.Ser2738Ter) | |
8 | g.60865155C>T | CA371307763 | CHD7 | n.1392C>T n.323C>T c.*1275C>T (n.*1275C>T) c.8216C>T (p.Ser2739Leu) c.2069C>T (p.Ser690Leu) n.262C>T c.8306C>T (p.Ser2769Leu) c.8303C>T (p.Ser2768Leu) c.8084C>T (p.Ser2695Leu) c.6293C>T (p.Ser2098Leu) c.5843C>T (p.Ser1948Leu) c.5051C>T (p.Ser1684Leu) c.8213C>T (p.Ser2738Leu) | |
8 | g.60865156A>C | CA461105823 | CHD7 | n.1393A>C n.324A>C c.*1276A>C (n.*1276A>C) c.8217A>C (p.Ser2739=) c.2070A>C (p.Ser690=) n.263A>C c.8307A>C (p.Ser2769=) c.8304A>C (p.Ser2768=) c.8085A>C (p.Ser2695=) c.6294A>C (p.Ser2098=) c.5844A>C (p.Ser1948=) c.5052A>C (p.Ser1684=) c.8214A>C (p.Ser2738=) | |
8 | g.60865156A>G | CA461105825 | CHD7 | n.1393A>G n.324A>G c.*1276A>G (n.*1276A>G) c.8217A>G (p.Ser2739=) c.2070A>G (p.Ser690=) n.263A>G c.8307A>G (p.Ser2769=) c.8304A>G (p.Ser2768=) c.8085A>G (p.Ser2695=) c.6294A>G (p.Ser2098=) c.5844A>G (p.Ser1948=) c.5052A>G (p.Ser1684=) c.8214A>G (p.Ser2738=) | gnomAD v4 |
8 | g.60865156A>T | CA461105824 | CHD7 | n.1393A>T n.324A>T c.*1276A>T (n.*1276A>T) c.8217A>T (p.Ser2739=) c.2070A>T (p.Ser690=) n.263A>T c.8307A>T (p.Ser2769=) c.8304A>T (p.Ser2768=) c.8085A>T (p.Ser2695=) c.6294A>T (p.Ser2098=) c.5844A>T (p.Ser1948=) c.5052A>T (p.Ser1684=) c.8214A>T (p.Ser2738=) | |
8 | g.60865157G>A | CA371307771 | CHD7 | n.1394G>A n.325G>A c.*1277G>A (n.*1277G>A) c.8218G>A (p.Gly2740Arg) c.2071G>A (p.Gly691Arg) n.264G>A c.8308G>A (p.Gly2770Arg) c.8305G>A (p.Gly2769Arg) c.8086G>A (p.Gly2696Arg) c.6295G>A (p.Gly2099Arg) c.5845G>A (p.Gly1949Arg) c.5053G>A (p.Gly1685Arg) c.8215G>A (p.Gly2739Arg) | |
8 | g.60865157G>C | CA371307773 | CHD7 | n.1394G>C n.325G>C c.*1277G>C (n.*1277G>C) c.8218G>C (p.Gly2740Arg) c.2071G>C (p.Gly691Arg) n.264G>C c.8308G>C (p.Gly2770Arg) c.8305G>C (p.Gly2769Arg) c.8086G>C (p.Gly2696Arg) c.6295G>C (p.Gly2099Arg) c.5845G>C (p.Gly1949Arg) c.5053G>C (p.Gly1685Arg) c.8215G>C (p.Gly2739Arg) | |
8 | g.60865157G>T | CA371307775 | CHD7 | n.1394G>T n.325G>T c.*1277G>T (n.*1277G>T) c.8218G>T (p.Gly2740Trp) c.2071G>T (p.Gly691Trp) n.264G>T c.8308G>T (p.Gly2770Trp) c.8305G>T (p.Gly2769Trp) c.8086G>T (p.Gly2696Trp) c.6295G>T (p.Gly2099Trp) c.5845G>T (p.Gly1949Trp) c.5053G>T (p.Gly1685Trp) c.8215G>T (p.Gly2739Trp) | |
8 | g.60865158G>A | CA371307778 | CHD7 | n.1395G>A n.326G>A c.*1278G>A (n.*1278G>A) c.8219G>A (p.Gly2740Glu) c.2072G>A (p.Gly691Glu) n.265G>A c.8309G>A (p.Gly2770Glu) c.8306G>A (p.Gly2769Glu) c.8087G>A (p.Gly2696Glu) c.6296G>A (p.Gly2099Glu) c.5846G>A (p.Gly1949Glu) c.5054G>A (p.Gly1685Glu) c.8216G>A (p.Gly2739Glu) | |
8 | g.60865158G>C | CA371307780 | CHD7 | n.1395G>C n.326G>C c.*1278G>C (n.*1278G>C) c.8219G>C (p.Gly2740Ala) c.2072G>C (p.Gly691Ala) n.265G>C c.8309G>C (p.Gly2770Ala) c.8306G>C (p.Gly2769Ala) c.8087G>C (p.Gly2696Ala) c.6296G>C (p.Gly2099Ala) c.5846G>C (p.Gly1949Ala) c.5054G>C (p.Gly1685Ala) c.8216G>C (p.Gly2739Ala) | |
8 | g.60865158G>T | CA371307782 | CHD7 | n.1395G>T n.326G>T c.*1278G>T (n.*1278G>T) c.8219G>T (p.Gly2740Val) c.2072G>T (p.Gly691Val) n.265G>T c.8309G>T (p.Gly2770Val) c.8306G>T (p.Gly2769Val) c.8087G>T (p.Gly2696Val) c.6296G>T (p.Gly2099Val) c.5846G>T (p.Gly1949Val) c.5054G>T (p.Gly1685Val) c.8216G>T (p.Gly2739Val) | |
8 | g.60865159G>A | CA461105826 | CHD7 | n.1396G>A n.327G>A c.*1279G>A (n.*1279G>A) c.8220G>A (p.Gly2740=) c.2073G>A (p.Gly691=) n.266G>A c.8310G>A (p.Gly2770=) c.8307G>A (p.Gly2769=) c.8088G>A (p.Gly2696=) c.6297G>A (p.Gly2099=) c.5847G>A (p.Gly1949=) c.5055G>A (p.Gly1685=) c.8217G>A (p.Gly2739=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865159G>C | CA461105827 | CHD7 | n.1396G>C n.327G>C c.*1279G>C (n.*1279G>C) c.8220G>C (p.Gly2740=) c.2073G>C (p.Gly691=) n.266G>C c.8310G>C (p.Gly2770=) c.8307G>C (p.Gly2769=) c.8088G>C (p.Gly2696=) c.6297G>C (p.Gly2099=) c.5847G>C (p.Gly1949=) c.5055G>C (p.Gly1685=) c.8217G>C (p.Gly2739=) | |
8 | g.60865159G= | CA1788129331 | CHD7 | n.1396G= n.327G= c.*1279G= (n.*1279G=) c.8220G= (p.Gly2740=) c.2073G= (p.Gly691=) n.266G= c.8310G= (p.Gly2770=) c.8307G= (p.Gly2769=) c.8088G= (p.Gly2696=) c.6297G= (p.Gly2099=) c.5847G= (p.Gly1949=) c.5055G= (p.Gly1685=) c.8217G= (p.Gly2739=) | |
8 | g.60865159G>T | CA461105829 | CHD7 | n.1396G>T n.327G>T c.*1279G>T (n.*1279G>T) c.8220G>T (p.Gly2740=) c.2073G>T (p.Gly691=) n.266G>T c.8310G>T (p.Gly2770=) c.8307G>T (p.Gly2769=) c.8088G>T (p.Gly2696=) c.6297G>T (p.Gly2099=) c.5847G>T (p.Gly1949=) c.5055G>T (p.Gly1685=) c.8217G>T (p.Gly2739=) | |
8 | g.60865160A>C | CA371307785 | CHD7 | n.1397A>C n.328A>C c.*1280A>C (n.*1280A>C) c.8221A>C (p.Ile2741Leu) c.2074A>C (p.Ile692Leu) n.267A>C c.8311A>C (p.Ile2771Leu) c.8308A>C (p.Ile2770Leu) c.8089A>C (p.Ile2697Leu) c.6298A>C (p.Ile2100Leu) c.5848A>C (p.Ile1950Leu) c.5056A>C (p.Ile1686Leu) c.8218A>C (p.Ile2740Leu) | |
8 | g.60865160A>G | CA371307787 | CHD7 | n.1397A>G n.328A>G c.*1280A>G (n.*1280A>G) c.8221A>G (p.Ile2741Val) c.2074A>G (p.Ile692Val) n.267A>G c.8311A>G (p.Ile2771Val) c.8308A>G (p.Ile2770Val) c.8089A>G (p.Ile2697Val) c.6298A>G (p.Ile2100Val) c.5848A>G (p.Ile1950Val) c.5056A>G (p.Ile1686Val) c.8218A>G (p.Ile2740Val) | |
8 | g.60865160A>T | CA371307789 | CHD7 | n.1397A>T n.328A>T c.*1280A>T (n.*1280A>T) c.8221A>T (p.Ile2741Phe) c.2074A>T (p.Ile692Phe) n.267A>T c.8311A>T (p.Ile2771Phe) c.8308A>T (p.Ile2770Phe) c.8089A>T (p.Ile2697Phe) c.6298A>T (p.Ile2100Phe) c.5848A>T (p.Ile1950Phe) c.5056A>T (p.Ile1686Phe) c.8218A>T (p.Ile2740Phe) | |
8 | g.60865161T>A | CA371307793 | CHD7 | n.1398T>A n.329T>A c.*1281T>A (n.*1281T>A) c.8222T>A (p.Ile2741Asn) c.2075T>A (p.Ile692Asn) n.268T>A c.8312T>A (p.Ile2771Asn) c.8309T>A (p.Ile2770Asn) c.8090T>A (p.Ile2697Asn) c.6299T>A (p.Ile2100Asn) c.5849T>A (p.Ile1950Asn) c.5057T>A (p.Ile1686Asn) c.8219T>A (p.Ile2740Asn) | dbSNP |
8 | g.60865161T>C | CA371307795 | CHD7 | n.1398T>C n.329T>C c.*1281T>C (n.*1281T>C) c.8222T>C (p.Ile2741Thr) c.2075T>C (p.Ile692Thr) n.268T>C c.8312T>C (p.Ile2771Thr) c.8309T>C (p.Ile2770Thr) c.8090T>C (p.Ile2697Thr) c.6299T>C (p.Ile2100Thr) c.5849T>C (p.Ile1950Thr) c.5057T>C (p.Ile1686Thr) c.8219T>C (p.Ile2740Thr) | |
8 | g.60865161T>G | CA371307797 | CHD7 | n.1398T>G n.329T>G c.*1281T>G (n.*1281T>G) c.8222T>G (p.Ile2741Ser) c.2075T>G (p.Ile692Ser) n.268T>G c.8312T>G (p.Ile2771Ser) c.8309T>G (p.Ile2770Ser) c.8090T>G (p.Ile2697Ser) c.6299T>G (p.Ile2100Ser) c.5849T>G (p.Ile1950Ser) c.5057T>G (p.Ile1686Ser) c.8219T>G (p.Ile2740Ser) | |
8 | g.60865161T= | CA1788129336 | CHD7 | n.1398T= n.329T= c.*1281T= (n.*1281T=) c.8222T= (p.Ile2741=) c.2075T= (p.Ile692=) n.268T= c.8312T= (p.Ile2771=) c.8309T= (p.Ile2770=) c.8090T= (p.Ile2697=) c.6299T= (p.Ile2100=) c.5849T= (p.Ile1950=) c.5057T= (p.Ile1686=) c.8219T= (p.Ile2740=) | |
8 | g.60865162C>A | CA461105832 | CHD7 | n.1399C>A n.330C>A c.*1282C>A (n.*1282C>A) c.8223C>A (p.Ile2741=) c.2076C>A (p.Ile692=) n.269C>A c.8313C>A (p.Ile2771=) c.8310C>A (p.Ile2770=) c.8091C>A (p.Ile2697=) c.6300C>A (p.Ile2100=) c.5850C>A (p.Ile1950=) c.5058C>A (p.Ile1686=) c.8220C>A (p.Ile2740=) | |
8 | g.60865162C>G | CA371307800 | CHD7 | n.1399C>G n.330C>G c.*1282C>G (n.*1282C>G) c.8223C>G (p.Ile2741Met) c.2076C>G (p.Ile692Met) n.269C>G c.8313C>G (p.Ile2771Met) c.8310C>G (p.Ile2770Met) c.8091C>G (p.Ile2697Met) c.6300C>G (p.Ile2100Met) c.5850C>G (p.Ile1950Met) c.5058C>G (p.Ile1686Met) c.8220C>G (p.Ile2740Met) | |
8 | g.60865162C>T | CA461105833 | CHD7 | n.1399C>T n.330C>T c.*1282C>T (n.*1282C>T) c.8223C>T (p.Ile2741=) c.2076C>T (p.Ile692=) n.269C>T c.8313C>T (p.Ile2771=) c.8310C>T (p.Ile2770=) c.8091C>T (p.Ile2697=) c.6300C>T (p.Ile2100=) c.5850C>T (p.Ile1950=) c.5058C>T (p.Ile1686=) c.8220C>T (p.Ile2740=) | |
8 | g.60865163A= | CA1788129343 | CHD7 | n.1400A= n.331A= c.*1283A= (n.*1283A=) c.8224A= (p.Asn2742=) c.2077A= (p.Asn693=) n.270A= c.8314A= (p.Asn2772=) c.8311A= (p.Asn2771=) c.8092A= (p.Asn2698=) c.6301A= (p.Asn2101=) c.5851A= (p.Asn1951=) c.5059A= (p.Asn1687=) c.8221A= (p.Asn2741=) | |
8 | g.60865163A>C | CA4760970 | CHD7 | n.1400A>C n.331A>C c.*1283A>C (n.*1283A>C) c.8224A>C (p.Asn2742His) c.2077A>C (p.Asn693His) n.270A>C c.8314A>C (p.Asn2772His) c.8311A>C (p.Asn2771His) c.8092A>C (p.Asn2698His) c.6301A>C (p.Asn2101His) c.5851A>C (p.Asn1951His) c.5059A>C (p.Asn1687His) c.8221A>C (p.Asn2741His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865163A>G | CA371307806 | CHD7 | n.1400A>G n.331A>G c.*1283A>G (n.*1283A>G) c.8224A>G (p.Asn2742Asp) c.2077A>G (p.Asn693Asp) n.270A>G c.8314A>G (p.Asn2772Asp) c.8311A>G (p.Asn2771Asp) c.8092A>G (p.Asn2698Asp) c.6301A>G (p.Asn2101Asp) c.5851A>G (p.Asn1951Asp) c.5059A>G (p.Asn1687Asp) c.8221A>G (p.Asn2741Asp) | |
8 | g.60865163A>T | CA371307802 | CHD7 | n.1400A>T n.331A>T c.*1283A>T (n.*1283A>T) c.8224A>T (p.Asn2742Tyr) c.2077A>T (p.Asn693Tyr) n.270A>T c.8314A>T (p.Asn2772Tyr) c.8311A>T (p.Asn2771Tyr) c.8092A>T (p.Asn2698Tyr) c.6301A>T (p.Asn2101Tyr) c.5851A>T (p.Asn1951Tyr) c.5059A>T (p.Asn1687Tyr) c.8221A>T (p.Asn2741Tyr) | |
8 | g.60865164A= | CA1788129346 | CHD7 | n.1401A= n.332A= c.*1284A= (n.*1284A=) c.8225A= (p.Asn2742=) c.2078A= (p.Asn693=) n.271A= c.8315A= (p.Asn2772=) c.8312A= (p.Asn2771=) c.8093A= (p.Asn2698=) c.6302A= (p.Asn2101=) c.5852A= (p.Asn1951=) c.5060A= (p.Asn1687=) c.8222A= (p.Asn2741=) | |
8 | g.60865164A>C | CA371307809 | CHD7 | n.1401A>C n.332A>C c.*1284A>C (n.*1284A>C) c.8225A>C (p.Asn2742Thr) c.2078A>C (p.Asn693Thr) n.271A>C c.8315A>C (p.Asn2772Thr) c.8312A>C (p.Asn2771Thr) c.8093A>C (p.Asn2698Thr) c.6302A>C (p.Asn2101Thr) c.5852A>C (p.Asn1951Thr) c.5060A>C (p.Asn1687Thr) c.8222A>C (p.Asn2741Thr) | dbSNP gnomAD v4 |
8 | g.60865164A>G | CA371307811 | CHD7 | n.1401A>G n.332A>G c.*1284A>G (n.*1284A>G) c.8225A>G (p.Asn2742Ser) c.2078A>G (p.Asn693Ser) n.271A>G c.8315A>G (p.Asn2772Ser) c.8312A>G (p.Asn2771Ser) c.8093A>G (p.Asn2698Ser) c.6302A>G (p.Asn2101Ser) c.5852A>G (p.Asn1951Ser) c.5060A>G (p.Asn1687Ser) c.8222A>G (p.Asn2741Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865164A>T | CA371307813 | CHD7 | n.1401A>T n.332A>T c.*1284A>T (n.*1284A>T) c.8225A>T (p.Asn2742Ile) c.2078A>T (p.Asn693Ile) n.271A>T c.8315A>T (p.Asn2772Ile) c.8312A>T (p.Asn2771Ile) c.8093A>T (p.Asn2698Ile) c.6302A>T (p.Asn2101Ile) c.5852A>T (p.Asn1951Ile) c.5060A>T (p.Asn1687Ile) c.8222A>T (p.Asn2741Ile) | |
8 | g.60865165C>A | CA371307815 | CHD7 | n.1402C>A n.333C>A c.*1285C>A (n.*1285C>A) c.8226C>A (p.Asn2742Lys) c.2079C>A (p.Asn693Lys) n.272C>A c.8316C>A (p.Asn2772Lys) c.8313C>A (p.Asn2771Lys) c.8094C>A (p.Asn2698Lys) c.6303C>A (p.Asn2101Lys) c.5853C>A (p.Asn1951Lys) c.5061C>A (p.Asn1687Lys) c.8223C>A (p.Asn2741Lys) | |
8 | g.60865165C>G | CA371307817 | CHD7 | n.1402C>G n.333C>G c.*1285C>G (n.*1285C>G) c.8226C>G (p.Asn2742Lys) c.2079C>G (p.Asn693Lys) n.272C>G c.8316C>G (p.Asn2772Lys) c.8313C>G (p.Asn2771Lys) c.8094C>G (p.Asn2698Lys) c.6303C>G (p.Asn2101Lys) c.5853C>G (p.Asn1951Lys) c.5061C>G (p.Asn1687Lys) c.8223C>G (p.Asn2741Lys) | |
8 | g.60865165C>T | CA461105835 | CHD7 | n.1402C>T n.333C>T c.*1285C>T (n.*1285C>T) c.8226C>T (p.Asn2742=) c.2079C>T (p.Asn693=) n.272C>T c.8316C>T (p.Asn2772=) c.8313C>T (p.Asn2771=) c.8094C>T (p.Asn2698=) c.6303C>T (p.Asn2101=) c.5853C>T (p.Asn1951=) c.5061C>T (p.Asn1687=) c.8223C>T (p.Asn2741=) | |
8 | g.60865166C>A | CA371307822 | CHD7 | n.1403C>A n.334C>A c.*1286C>A (n.*1286C>A) c.8227C>A (p.Pro2743Thr) c.2080C>A (p.Pro694Thr) n.273C>A c.8317C>A (p.Pro2773Thr) c.8314C>A (p.Pro2772Thr) c.8095C>A (p.Pro2699Thr) c.6304C>A (p.Pro2102Thr) c.5854C>A (p.Pro1952Thr) c.5062C>A (p.Pro1688Thr) c.8224C>A (p.Pro2742Thr) | |
8 | g.60865166C>G | CA371307823 | CHD7 | n.1403C>G n.334C>G c.*1286C>G (n.*1286C>G) c.8227C>G (p.Pro2743Ala) c.2080C>G (p.Pro694Ala) n.273C>G c.8317C>G (p.Pro2773Ala) c.8314C>G (p.Pro2772Ala) c.8095C>G (p.Pro2699Ala) c.6304C>G (p.Pro2102Ala) c.5854C>G (p.Pro1952Ala) c.5062C>G (p.Pro1688Ala) c.8224C>G (p.Pro2742Ala) | |
8 | g.60865166C>T | CA371307825 | CHD7 | n.1403C>T n.334C>T c.*1286C>T (n.*1286C>T) c.8227C>T (p.Pro2743Ser) c.2080C>T (p.Pro694Ser) n.273C>T c.8317C>T (p.Pro2773Ser) c.8314C>T (p.Pro2772Ser) c.8095C>T (p.Pro2699Ser) c.6304C>T (p.Pro2102Ser) c.5854C>T (p.Pro1952Ser) c.5062C>T (p.Pro1688Ser) c.8224C>T (p.Pro2742Ser) | |
8 | g.60865167C>A | CA371307828 | CHD7 | n.1404C>A n.335C>A c.*1287C>A (n.*1287C>A) c.8228C>A (p.Pro2743His) c.2081C>A (p.Pro694His) n.274C>A c.8318C>A (p.Pro2773His) c.8315C>A (p.Pro2772His) c.8096C>A (p.Pro2699His) c.6305C>A (p.Pro2102His) c.5855C>A (p.Pro1952His) c.5063C>A (p.Pro1688His) c.8225C>A (p.Pro2742His) | dbSNP |
8 | g.60865167C= | CA1788129349 | CHD7 | n.1404C= n.335C= c.*1287C= (n.*1287C=) c.8228C= (p.Pro2743=) c.2081C= (p.Pro694=) n.274C= c.8318C= (p.Pro2773=) c.8315C= (p.Pro2772=) c.8096C= (p.Pro2699=) c.6305C= (p.Pro2102=) c.5855C= (p.Pro1952=) c.5063C= (p.Pro1688=) c.8225C= (p.Pro2742=) | |
8 | g.60865167C>G | CA371307830 | CHD7 | n.1404C>G n.335C>G c.*1287C>G (n.*1287C>G) c.8228C>G (p.Pro2743Arg) c.2081C>G (p.Pro694Arg) n.274C>G c.8318C>G (p.Pro2773Arg) c.8315C>G (p.Pro2772Arg) c.8096C>G (p.Pro2699Arg) c.6305C>G (p.Pro2102Arg) c.5855C>G (p.Pro1952Arg) c.5063C>G (p.Pro1688Arg) c.8225C>G (p.Pro2742Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865167C>T | CA371307832 | CHD7 | n.1404C>T n.335C>T c.*1287C>T (n.*1287C>T) c.8228C>T (p.Pro2743Leu) c.2081C>T (p.Pro694Leu) n.274C>T c.8318C>T (p.Pro2773Leu) c.8315C>T (p.Pro2772Leu) c.8096C>T (p.Pro2699Leu) c.6305C>T (p.Pro2102Leu) c.5855C>T (p.Pro1952Leu) c.5063C>T (p.Pro1688Leu) c.8225C>T (p.Pro2742Leu) | |
8 | g.60865167_60865186dup | CA2695203179 | CHD7 | n.1404_1423dup n.335_354dup c.*1287_*1306dup (n.*1287_*1306dup) c.8228_8247dup (p.Phe2750LeufsTer4) c.2081_2100dup (p.Phe701LeufsTer4) n.274_293dup c.8318_8337dup (p.Phe2780LeufsTer4) c.8315_8334dup (p.Phe2779LeufsTer4) c.8096_8115dup (p.Phe2706LeufsTer4) c.6305_6324dup (p.Phe2109LeufsTer4) c.5855_5874dup (p.Phe1959LeufsTer4) c.5063_5082dup (p.Phe1695LeufsTer4) c.8225_8244dup (p.Phe2749LeufsTer4) | |
8 | g.60865168T>A | CA461105837 | CHD7 | n.1405T>A n.336T>A c.*1288T>A (n.*1288T>A) c.8229T>A (p.Pro2743=) c.2082T>A (p.Pro694=) n.275T>A c.8319T>A (p.Pro2773=) c.8316T>A (p.Pro2772=) c.8097T>A (p.Pro2699=) c.6306T>A (p.Pro2102=) c.5856T>A (p.Pro1952=) c.5064T>A (p.Pro1688=) c.8226T>A (p.Pro2742=) | |
8 | g.60865168T>C | CA461105838 | CHD7 | n.1405T>C n.336T>C c.*1288T>C (n.*1288T>C) c.8229T>C (p.Pro2743=) c.2082T>C (p.Pro694=) n.275T>C c.8319T>C (p.Pro2773=) c.8316T>C (p.Pro2772=) c.8097T>C (p.Pro2699=) c.6306T>C (p.Pro2102=) c.5856T>C (p.Pro1952=) c.5064T>C (p.Pro1688=) c.8226T>C (p.Pro2742=) | |
8 | g.60865168T>G | CA461105839 | CHD7 | n.1405T>G n.336T>G c.*1288T>G (n.*1288T>G) c.8229T>G (p.Pro2743=) c.2082T>G (p.Pro694=) n.275T>G c.8319T>G (p.Pro2773=) c.8316T>G (p.Pro2772=) c.8097T>G (p.Pro2699=) c.6306T>G (p.Pro2102=) c.5856T>G (p.Pro1952=) c.5064T>G (p.Pro1688=) c.8226T>G (p.Pro2742=) | |
8 | g.60865169T>A | CA371307834 | CHD7 | n.1406T>A n.337T>A c.*1289T>A (n.*1289T>A) c.8230T>A (p.Leu2744Met) c.2083T>A (p.Leu695Met) n.276T>A c.8320T>A (p.Leu2774Met) c.8317T>A (p.Leu2773Met) c.8098T>A (p.Leu2700Met) c.6307T>A (p.Leu2103Met) c.5857T>A (p.Leu1953Met) c.5065T>A (p.Leu1689Met) c.8227T>A (p.Leu2743Met) | |
8 | g.60865169T>C | CA461105842 | CHD7 | n.1406T>C n.337T>C c.*1289T>C (n.*1289T>C) c.8230T>C (p.Leu2744=) c.2083T>C (p.Leu695=) n.276T>C c.8320T>C (p.Leu2774=) c.8317T>C (p.Leu2773=) c.8098T>C (p.Leu2700=) c.6307T>C (p.Leu2103=) c.5857T>C (p.Leu1953=) c.5065T>C (p.Leu1689=) c.8227T>C (p.Leu2743=) | |
8 | g.60865169T>G | CA371307836 | CHD7 | n.1406T>G n.337T>G c.*1289T>G (n.*1289T>G) c.8230T>G (p.Leu2744Val) c.2083T>G (p.Leu695Val) n.276T>G c.8320T>G (p.Leu2774Val) c.8317T>G (p.Leu2773Val) c.8098T>G (p.Leu2700Val) c.6307T>G (p.Leu2103Val) c.5857T>G (p.Leu1953Val) c.5065T>G (p.Leu1689Val) c.8227T>G (p.Leu2743Val) | |
8 | g.60865170T>A | CA371307840 | CHD7 | n.1407T>A n.338T>A c.*1290T>A (n.*1290T>A) c.8231T>A (p.Leu2744Ter) c.2084T>A (p.Leu695Ter) n.277T>A c.8321T>A (p.Leu2774Ter) c.8318T>A (p.Leu2773Ter) c.8099T>A (p.Leu2700Ter) c.6308T>A (p.Leu2103Ter) c.5858T>A (p.Leu1953Ter) c.5066T>A (p.Leu1689Ter) c.8228T>A (p.Leu2743Ter) | |
8 | g.60865170T>C | CA371307839 | CHD7 | n.1407T>C n.338T>C c.*1290T>C (n.*1290T>C) c.8231T>C (p.Leu2744Ser) c.2084T>C (p.Leu695Ser) n.277T>C c.8321T>C (p.Leu2774Ser) c.8318T>C (p.Leu2773Ser) c.8099T>C (p.Leu2700Ser) c.6308T>C (p.Leu2103Ser) c.5858T>C (p.Leu1953Ser) c.5066T>C (p.Leu1689Ser) c.8228T>C (p.Leu2743Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.60865170T>G | CA371307838 | CHD7 | n.1407T>G n.338T>G c.*1290T>G (n.*1290T>G) c.8231T>G (p.Leu2744Trp) c.2084T>G (p.Leu695Trp) n.277T>G c.8321T>G (p.Leu2774Trp) c.8318T>G (p.Leu2773Trp) c.8099T>G (p.Leu2700Trp) c.6308T>G (p.Leu2103Trp) c.5858T>G (p.Leu1953Trp) c.5066T>G (p.Leu1689Trp) c.8228T>G (p.Leu2743Trp) | |
8 | g.60865170T= | CA1788129354 | CHD7 | n.1407T= n.338T= c.*1290T= (n.*1290T=) c.8231T= (p.Leu2744=) c.2084T= (p.Leu695=) n.277T= c.8321T= (p.Leu2774=) c.8318T= (p.Leu2773=) c.8099T= (p.Leu2700=) c.6308T= (p.Leu2103=) c.5858T= (p.Leu1953=) c.5066T= (p.Leu1689=) c.8228T= (p.Leu2743=) | |
8 | g.60865171G>A | CA461105844 | CHD7 | n.1408G>A n.339G>A c.*1291G>A (n.*1291G>A) c.8232G>A (p.Leu2744=) c.2085G>A (p.Leu695=) n.278G>A c.8322G>A (p.Leu2774=) c.8319G>A (p.Leu2773=) c.8100G>A (p.Leu2700=) c.6309G>A (p.Leu2103=) c.5859G>A (p.Leu1953=) c.5067G>A (p.Leu1689=) c.8229G>A (p.Leu2743=) | |
8 | g.60865171G>C | CA371307842 | CHD7 | n.1408G>C n.339G>C c.*1291G>C (n.*1291G>C) c.8232G>C (p.Leu2744Phe) c.2085G>C (p.Leu695Phe) n.278G>C c.8322G>C (p.Leu2774Phe) c.8319G>C (p.Leu2773Phe) c.8100G>C (p.Leu2700Phe) c.6309G>C (p.Leu2103Phe) c.5859G>C (p.Leu1953Phe) c.5067G>C (p.Leu1689Phe) c.8229G>C (p.Leu2743Phe) | |
8 | g.60865171G>T | CA371307844 | CHD7 | n.1408G>T n.339G>T c.*1291G>T (n.*1291G>T) c.8232G>T (p.Leu2744Phe) c.2085G>T (p.Leu695Phe) n.278G>T c.8322G>T (p.Leu2774Phe) c.8319G>T (p.Leu2773Phe) c.8100G>T (p.Leu2700Phe) c.6309G>T (p.Leu2103Phe) c.5859G>T (p.Leu1953Phe) c.5067G>T (p.Leu1689Phe) c.8229G>T (p.Leu2743Phe) | COSMIC |
8 | g.60865172C>A | CA371307846 | CHD7 | n.1409C>A n.340C>A c.*1292C>A (n.*1292C>A) c.8233C>A (p.Leu2745Met) c.2086C>A (p.Leu696Met) n.279C>A c.8323C>A (p.Leu2775Met) c.8320C>A (p.Leu2774Met) c.8101C>A (p.Leu2701Met) c.6310C>A (p.Leu2104Met) c.5860C>A (p.Leu1954Met) c.5068C>A (p.Leu1690Met) c.8230C>A (p.Leu2744Met) | gnomAD v4 |
8 | g.60865172C>G | CA371307848 | CHD7 | n.1409C>G n.340C>G c.*1292C>G (n.*1292C>G) c.8233C>G (p.Leu2745Val) c.2086C>G (p.Leu696Val) n.279C>G c.8323C>G (p.Leu2775Val) c.8320C>G (p.Leu2774Val) c.8101C>G (p.Leu2701Val) c.6310C>G (p.Leu2104Val) c.5860C>G (p.Leu1954Val) c.5068C>G (p.Leu1690Val) c.8230C>G (p.Leu2744Val) | ClinVar dbSNP |
8 | g.60865172C>T | CA461105845 | CHD7 | n.1409C>T n.340C>T c.*1292C>T (n.*1292C>T) c.8233C>T (p.Leu2745=) c.2086C>T (p.Leu696=) n.279C>T c.8323C>T (p.Leu2775=) c.8320C>T (p.Leu2774=) c.8101C>T (p.Leu2701=) c.6310C>T (p.Leu2104=) c.5860C>T (p.Leu1954=) c.5068C>T (p.Leu1690=) c.8230C>T (p.Leu2744=) | gnomAD v4 |
8 | g.60865173T>A | CA371307851 | CHD7 | n.1410T>A n.341T>A c.*1293T>A (n.*1293T>A) c.8234T>A (p.Leu2745Gln) c.2087T>A (p.Leu696Gln) n.280T>A c.8324T>A (p.Leu2775Gln) c.8321T>A (p.Leu2774Gln) c.8102T>A (p.Leu2701Gln) c.6311T>A (p.Leu2104Gln) c.5861T>A (p.Leu1954Gln) c.5069T>A (p.Leu1690Gln) c.8231T>A (p.Leu2744Gln) | |
8 | g.60865173T>C | CA371307853 | CHD7 | n.1410T>C n.341T>C c.*1293T>C (n.*1293T>C) c.8234T>C (p.Leu2745Pro) c.2087T>C (p.Leu696Pro) n.280T>C c.8324T>C (p.Leu2775Pro) c.8321T>C (p.Leu2774Pro) c.8102T>C (p.Leu2701Pro) c.6311T>C (p.Leu2104Pro) c.5861T>C (p.Leu1954Pro) c.5069T>C (p.Leu1690Pro) c.8231T>C (p.Leu2744Pro) | |
8 | g.60865173T>G | CA371307854 | CHD7 | n.1410T>G n.341T>G c.*1293T>G (n.*1293T>G) c.8234T>G (p.Leu2745Arg) c.2087T>G (p.Leu696Arg) n.280T>G c.8324T>G (p.Leu2775Arg) c.8321T>G (p.Leu2774Arg) c.8102T>G (p.Leu2701Arg) c.6311T>G (p.Leu2104Arg) c.5861T>G (p.Leu1954Arg) c.5069T>G (p.Leu1690Arg) c.8231T>G (p.Leu2744Arg) | |
8 | g.60865174G>A | CA461105848 | CHD7 | n.1411G>A n.342G>A c.*1294G>A (n.*1294G>A) c.8235G>A (p.Leu2745=) c.2088G>A (p.Leu696=) n.281G>A c.8325G>A (p.Leu2775=) c.8322G>A (p.Leu2774=) c.8103G>A (p.Leu2701=) c.6312G>A (p.Leu2104=) c.5862G>A (p.Leu1954=) c.5070G>A (p.Leu1690=) c.8232G>A (p.Leu2744=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865174G>C | CA461105850 | CHD7 | n.1411G>C n.342G>C c.*1294G>C (n.*1294G>C) c.8235G>C (p.Leu2745=) c.2088G>C (p.Leu696=) n.281G>C c.8325G>C (p.Leu2775=) c.8322G>C (p.Leu2774=) c.8103G>C (p.Leu2701=) c.6312G>C (p.Leu2104=) c.5862G>C (p.Leu1954=) c.5070G>C (p.Leu1690=) c.8232G>C (p.Leu2744=) | |
8 | g.60865174G= | CA1788129357 | CHD7 | n.1411G= n.342G= c.*1294G= (n.*1294G=) c.8235G= (p.Leu2745=) c.2088G= (p.Leu696=) n.281G= c.8325G= (p.Leu2775=) c.8322G= (p.Leu2774=) c.8103G= (p.Leu2701=) c.6312G= (p.Leu2104=) c.5862G= (p.Leu1954=) c.5070G= (p.Leu1690=) c.8232G= (p.Leu2744=) | |
8 | g.60865174G>T | CA461105851 | CHD7 | n.1411G>T n.342G>T c.*1294G>T (n.*1294G>T) c.8235G>T (p.Leu2745=) c.2088G>T (p.Leu696=) n.281G>T c.8325G>T (p.Leu2775=) c.8322G>T (p.Leu2774=) c.8103G>T (p.Leu2701=) c.6312G>T (p.Leu2104=) c.5862G>T (p.Leu1954=) c.5070G>T (p.Leu1690=) c.8232G>T (p.Leu2744=) | gnomAD v4 |
8 | g.60865174_60865175delinsTT | CA645546302 | CHD7 | n.1411_1412delinsTT n.342_343delinsTT c.*1294_*1295delinsTT (n.*1294_*1295delinsTT) c.8235_8236delinsTT (p.Val2746Leu) c.2088_2089delinsTT (p.Val697Leu) n.281_282delinsTT c.8325_8326delinsTT (p.Val2776Leu) c.8322_8323delinsTT (p.Val2775Leu) c.8103_8104delinsTT (p.Val2702Leu) c.6312_6313delinsTT (p.Val2105Leu) c.5862_5863delinsTT (p.Val1955Leu) c.5070_5071delinsTT (p.Val1691Leu) c.8232_8233delinsTT (p.Val2745Leu) | COSMIC |
8 | g.60865175G>A | CA4760971 | CHD7 | n.1412G>A n.343G>A c.*1295G>A (n.*1295G>A) c.8236G>A (p.Val2746Met) c.2089G>A (p.Val697Met) n.282G>A c.8326G>A (p.Val2776Met) c.8323G>A (p.Val2775Met) c.8104G>A (p.Val2702Met) c.6313G>A (p.Val2105Met) c.5863G>A (p.Val1955Met) c.5071G>A (p.Val1691Met) c.8233G>A (p.Val2745Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865175G>C | CA371307858 | CHD7 | n.1412G>C n.343G>C c.*1295G>C (n.*1295G>C) c.8236G>C (p.Val2746Leu) c.2089G>C (p.Val697Leu) n.282G>C c.8326G>C (p.Val2776Leu) c.8323G>C (p.Val2775Leu) c.8104G>C (p.Val2702Leu) c.6313G>C (p.Val2105Leu) c.5863G>C (p.Val1955Leu) c.5071G>C (p.Val1691Leu) c.8233G>C (p.Val2745Leu) | |
8 | g.60865175G= | CA1788129360 | CHD7 | n.1412G= n.343G= c.*1295G= (n.*1295G=) c.8236G= (p.Val2746=) c.2089G= (p.Val697=) n.282G= c.8326G= (p.Val2776=) c.8323G= (p.Val2775=) c.8104G= (p.Val2702=) c.6313G= (p.Val2105=) c.5863G= (p.Val1955=) c.5071G= (p.Val1691=) c.8233G= (p.Val2745=) | |
8 | g.60865175G>T | CA371307859 | CHD7 | n.1412G>T n.343G>T c.*1295G>T (n.*1295G>T) c.8236G>T (p.Val2746Leu) c.2089G>T (p.Val697Leu) n.282G>T c.8326G>T (p.Val2776Leu) c.8323G>T (p.Val2775Leu) c.8104G>T (p.Val2702Leu) c.6313G>T (p.Val2105Leu) c.5863G>T (p.Val1955Leu) c.5071G>T (p.Val1691Leu) c.8233G>T (p.Val2745Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865176T>A | CA371307868 | CHD7 | n.1413T>A n.344T>A c.*1296T>A (n.*1296T>A) c.8237T>A (p.Val2746Glu) c.2090T>A (p.Val697Glu) n.283T>A c.8327T>A (p.Val2776Glu) c.8324T>A (p.Val2775Glu) c.8105T>A (p.Val2702Glu) c.6314T>A (p.Val2105Glu) c.5864T>A (p.Val1955Glu) c.5072T>A (p.Val1691Glu) c.8234T>A (p.Val2745Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865176T>C | CA371307870 | CHD7 | n.1413T>C n.344T>C c.*1296T>C (n.*1296T>C) c.8237T>C (p.Val2746Ala) c.2090T>C (p.Val697Ala) n.283T>C c.8327T>C (p.Val2776Ala) c.8324T>C (p.Val2775Ala) c.8105T>C (p.Val2702Ala) c.6314T>C (p.Val2105Ala) c.5864T>C (p.Val1955Ala) c.5072T>C (p.Val1691Ala) c.8234T>C (p.Val2745Ala) | gnomAD v4 |
8 | g.60865176T>G | CA371307873 | CHD7 | n.1413T>G n.344T>G c.*1296T>G (n.*1296T>G) c.8237T>G (p.Val2746Gly) c.2090T>G (p.Val697Gly) n.283T>G c.8327T>G (p.Val2776Gly) c.8324T>G (p.Val2775Gly) c.8105T>G (p.Val2702Gly) c.6314T>G (p.Val2105Gly) c.5864T>G (p.Val1955Gly) c.5072T>G (p.Val1691Gly) c.8234T>G (p.Val2745Gly) | |
8 | g.60865176T= | CA1788129366 | CHD7 | n.1413T= n.344T= c.*1296T= (n.*1296T=) c.8237T= (p.Val2746=) c.2090T= (p.Val697=) n.283T= c.8327T= (p.Val2776=) c.8324T= (p.Val2775=) c.8105T= (p.Val2702=) c.6314T= (p.Val2105=) c.5864T= (p.Val1955=) c.5072T= (p.Val1691=) c.8234T= (p.Val2745=) | |
8 | g.60865177G>A | CA461105854 | CHD7 | n.1414G>A n.345G>A c.*1297G>A (n.*1297G>A) c.8238G>A (p.Val2746=) c.2091G>A (p.Val697=) n.284G>A c.8328G>A (p.Val2776=) c.8325G>A (p.Val2775=) c.8106G>A (p.Val2702=) c.6315G>A (p.Val2105=) c.5865G>A (p.Val1955=) c.5073G>A (p.Val1691=) c.8235G>A (p.Val2745=) | |
8 | g.60865177G>C | CA461105852 | CHD7 | n.1414G>C n.345G>C c.*1297G>C (n.*1297G>C) c.8238G>C (p.Val2746=) c.2091G>C (p.Val697=) n.284G>C c.8328G>C (p.Val2776=) c.8325G>C (p.Val2775=) c.8106G>C (p.Val2702=) c.6315G>C (p.Val2105=) c.5865G>C (p.Val1955=) c.5073G>C (p.Val1691=) c.8235G>C (p.Val2745=) | |
8 | g.60865177G>T | CA461105853 | CHD7 | n.1414G>T n.345G>T c.*1297G>T (n.*1297G>T) c.8238G>T (p.Val2746=) c.2091G>T (p.Val697=) n.284G>T c.8328G>T (p.Val2776=) c.8325G>T (p.Val2775=) c.8106G>T (p.Val2702=) c.6315G>T (p.Val2105=) c.5865G>T (p.Val1955=) c.5073G>T (p.Val1691=) c.8235G>T (p.Val2745=) | |
8 | g.60865178A>C | CA371307875 | CHD7 | n.1415A>C n.346A>C c.*1298A>C (n.*1298A>C) c.8239A>C (p.Asn2747His) c.2092A>C (p.Asn698His) n.285A>C c.8329A>C (p.Asn2777His) c.8326A>C (p.Asn2776His) c.8107A>C (p.Asn2703His) c.6316A>C (p.Asn2106His) c.5866A>C (p.Asn1956His) c.5074A>C (p.Asn1692His) c.8236A>C (p.Asn2746His) | |
8 | g.60865178A>G | CA371307876 | CHD7 | n.1415A>G n.346A>G c.*1298A>G (n.*1298A>G) c.8239A>G (p.Asn2747Asp) c.2092A>G (p.Asn698Asp) n.285A>G c.8329A>G (p.Asn2777Asp) c.8326A>G (p.Asn2776Asp) c.8107A>G (p.Asn2703Asp) c.6316A>G (p.Asn2106Asp) c.5866A>G (p.Asn1956Asp) c.5074A>G (p.Asn1692Asp) c.8236A>G (p.Asn2746Asp) | |
8 | g.60865178A>T | CA371307874 | CHD7 | n.1415A>T n.346A>T c.*1298A>T (n.*1298A>T) c.8239A>T (p.Asn2747Tyr) c.2092A>T (p.Asn698Tyr) n.285A>T c.8329A>T (p.Asn2777Tyr) c.8326A>T (p.Asn2776Tyr) c.8107A>T (p.Asn2703Tyr) c.6316A>T (p.Asn2106Tyr) c.5866A>T (p.Asn1956Tyr) c.5074A>T (p.Asn1692Tyr) c.8236A>T (p.Asn2746Tyr) | |
8 | g.60865179A= | CA1788129370 | CHD7 | n.1416A= n.347A= c.*1299A= (n.*1299A=) c.8240A= (p.Asn2747=) c.2093A= (p.Asn698=) n.286A= c.8330A= (p.Asn2777=) c.8327A= (p.Asn2776=) c.8108A= (p.Asn2703=) c.6317A= (p.Asn2106=) c.5867A= (p.Asn1956=) c.5075A= (p.Asn1692=) c.8237A= (p.Asn2746=) | |
8 | g.60865179A>C | CA371307878 | CHD7 | n.1416A>C n.347A>C c.*1299A>C (n.*1299A>C) c.8240A>C (p.Asn2747Thr) c.2093A>C (p.Asn698Thr) n.286A>C c.8330A>C (p.Asn2777Thr) c.8327A>C (p.Asn2776Thr) c.8108A>C (p.Asn2703Thr) c.6317A>C (p.Asn2106Thr) c.5867A>C (p.Asn1956Thr) c.5075A>C (p.Asn1692Thr) c.8237A>C (p.Asn2746Thr) | |
8 | g.60865179A>G | CA371307880 | CHD7 | n.1416A>G n.347A>G c.*1299A>G (n.*1299A>G) c.8240A>G (p.Asn2747Ser) c.2093A>G (p.Asn698Ser) n.286A>G c.8330A>G (p.Asn2777Ser) c.8327A>G (p.Asn2776Ser) c.8108A>G (p.Asn2703Ser) c.6317A>G (p.Asn2106Ser) c.5867A>G (p.Asn1956Ser) c.5075A>G (p.Asn1692Ser) c.8237A>G (p.Asn2746Ser) | ClinVar dbSNP |
8 | g.60865179A>T | CA371307882 | CHD7 | n.1416A>T n.347A>T c.*1299A>T (n.*1299A>T) c.8240A>T (p.Asn2747Ile) c.2093A>T (p.Asn698Ile) n.286A>T c.8330A>T (p.Asn2777Ile) c.8327A>T (p.Asn2776Ile) c.8108A>T (p.Asn2703Ile) c.6317A>T (p.Asn2106Ile) c.5867A>T (p.Asn1956Ile) c.5075A>T (p.Asn1692Ile) c.8237A>T (p.Asn2746Ile) | |
8 | g.60865180C>A | CA371307885 | CHD7 | n.1417C>A n.348C>A c.*1300C>A (n.*1300C>A) c.8241C>A (p.Asn2747Lys) c.2094C>A (p.Asn698Lys) n.287C>A c.8331C>A (p.Asn2777Lys) c.8328C>A (p.Asn2776Lys) c.8109C>A (p.Asn2703Lys) c.6318C>A (p.Asn2106Lys) c.5868C>A (p.Asn1956Lys) c.5076C>A (p.Asn1692Lys) c.8238C>A (p.Asn2746Lys) | |
8 | g.60865180C>G | CA371307887 | CHD7 | n.1417C>G n.348C>G c.*1300C>G (n.*1300C>G) c.8241C>G (p.Asn2747Lys) c.2094C>G (p.Asn698Lys) n.287C>G c.8331C>G (p.Asn2777Lys) c.8328C>G (p.Asn2776Lys) c.8109C>G (p.Asn2703Lys) c.6318C>G (p.Asn2106Lys) c.5868C>G (p.Asn1956Lys) c.5076C>G (p.Asn1692Lys) c.8238C>G (p.Asn2746Lys) | |
8 | g.60865180C>T | CA461105858 | CHD7 | n.1417C>T n.348C>T c.*1300C>T (n.*1300C>T) c.8241C>T (p.Asn2747=) c.2094C>T (p.Asn698=) n.287C>T c.8331C>T (p.Asn2777=) c.8328C>T (p.Asn2776=) c.8109C>T (p.Asn2703=) c.6318C>T (p.Asn2106=) c.5868C>T (p.Asn1956=) c.5076C>T (p.Asn1692=) c.8238C>T (p.Asn2746=) | |
8 | g.60865181A>C | CA371307891 | CHD7 | n.1418A>C n.349A>C c.*1301A>C (n.*1301A>C) c.8242A>C (p.Ser2748Arg) c.2095A>C (p.Ser699Arg) n.288A>C c.8332A>C (p.Ser2778Arg) c.8329A>C (p.Ser2777Arg) c.8110A>C (p.Ser2704Arg) c.6319A>C (p.Ser2107Arg) c.5869A>C (p.Ser1957Arg) c.5077A>C (p.Ser1693Arg) c.8239A>C (p.Ser2747Arg) | |
8 | g.60865181A>G | CA371307893 | CHD7 | n.1418A>G n.349A>G c.*1301A>G (n.*1301A>G) c.8242A>G (p.Ser2748Gly) c.2095A>G (p.Ser699Gly) n.288A>G c.8332A>G (p.Ser2778Gly) c.8329A>G (p.Ser2777Gly) c.8110A>G (p.Ser2704Gly) c.6319A>G (p.Ser2107Gly) c.5869A>G (p.Ser1957Gly) c.5077A>G (p.Ser1693Gly) c.8239A>G (p.Ser2747Gly) | |
8 | g.60865181A>T | CA371307895 | CHD7 | n.1418A>T n.349A>T c.*1301A>T (n.*1301A>T) c.8242A>T (p.Ser2748Cys) c.2095A>T (p.Ser699Cys) n.288A>T c.8332A>T (p.Ser2778Cys) c.8329A>T (p.Ser2777Cys) c.8110A>T (p.Ser2704Cys) c.6319A>T (p.Ser2107Cys) c.5869A>T (p.Ser1957Cys) c.5077A>T (p.Ser1693Cys) c.8239A>T (p.Ser2747Cys) | |
8 | g.60865182G>A | CA371307898 | CHD7 | n.1419G>A n.350G>A c.*1302G>A (n.*1302G>A) c.8243G>A (p.Ser2748Asn) c.2096G>A (p.Ser699Asn) n.289G>A c.8333G>A (p.Ser2778Asn) c.8330G>A (p.Ser2777Asn) c.8111G>A (p.Ser2704Asn) c.6320G>A (p.Ser2107Asn) c.5870G>A (p.Ser1957Asn) c.5078G>A (p.Ser1693Asn) c.8240G>A (p.Ser2747Asn) | gnomAD v4 |
8 | g.60865182G>C | CA371307901 | CHD7 | n.1419G>C n.350G>C c.*1302G>C (n.*1302G>C) c.8243G>C (p.Ser2748Thr) c.2096G>C (p.Ser699Thr) n.289G>C c.8333G>C (p.Ser2778Thr) c.8330G>C (p.Ser2777Thr) c.8111G>C (p.Ser2704Thr) c.6320G>C (p.Ser2107Thr) c.5870G>C (p.Ser1957Thr) c.5078G>C (p.Ser1693Thr) c.8240G>C (p.Ser2747Thr) | |
8 | g.60865182G>T | CA371307904 | CHD7 | n.1419G>T n.350G>T c.*1302G>T (n.*1302G>T) c.8243G>T (p.Ser2748Ile) c.2096G>T (p.Ser699Ile) n.289G>T c.8333G>T (p.Ser2778Ile) c.8330G>T (p.Ser2777Ile) c.8111G>T (p.Ser2704Ile) c.6320G>T (p.Ser2107Ile) c.5870G>T (p.Ser1957Ile) c.5078G>T (p.Ser1693Ile) c.8240G>T (p.Ser2747Ile) | gnomAD v4 |
8 | g.60865183C>A | CA371307907 | CHD7 | n.1420C>A n.351C>A c.*1303C>A (n.*1303C>A) c.8244C>A (p.Ser2748Arg) c.2097C>A (p.Ser699Arg) n.290C>A c.8334C>A (p.Ser2778Arg) c.8331C>A (p.Ser2777Arg) c.8112C>A (p.Ser2704Arg) c.6321C>A (p.Ser2107Arg) c.5871C>A (p.Ser1957Arg) c.5079C>A (p.Ser1693Arg) c.8241C>A (p.Ser2747Arg) | dbSNP |
8 | g.60865183C= | CA1788129376 | CHD7 | n.1420C= n.351C= c.*1303C= (n.*1303C=) c.8244C= (p.Ser2748=) c.2097C= (p.Ser699=) n.290C= c.8334C= (p.Ser2778=) c.8331C= (p.Ser2777=) c.8112C= (p.Ser2704=) c.6321C= (p.Ser2107=) c.5871C= (p.Ser1957=) c.5079C= (p.Ser1693=) c.8241C= (p.Ser2747=) | |
8 | g.60865183C>G | CA371307909 | CHD7 | n.1420C>G n.351C>G c.*1303C>G (n.*1303C>G) c.8244C>G (p.Ser2748Arg) c.2097C>G (p.Ser699Arg) n.290C>G c.8334C>G (p.Ser2778Arg) c.8331C>G (p.Ser2777Arg) c.8112C>G (p.Ser2704Arg) c.6321C>G (p.Ser2107Arg) c.5871C>G (p.Ser1957Arg) c.5079C>G (p.Ser1693Arg) c.8241C>G (p.Ser2747Arg) | ClinVar |
8 | g.60865183C>T | CA461105860 | CHD7 | n.1420C>T n.351C>T c.*1303C>T (n.*1303C>T) c.8244C>T (p.Ser2748=) c.2097C>T (p.Ser699=) n.290C>T c.8334C>T (p.Ser2778=) c.8331C>T (p.Ser2777=) c.8112C>T (p.Ser2704=) c.6321C>T (p.Ser2107=) c.5871C>T (p.Ser1957=) c.5079C>T (p.Ser1693=) c.8241C>T (p.Ser2747=) | gnomAD v4 |
8 | g.60865184C>A | CA371307911 | CHD7 | n.1421C>A n.352C>A c.*1304C>A (n.*1304C>A) c.8245C>A (p.Leu2749Met) c.2098C>A (p.Leu700Met) n.291C>A c.8335C>A (p.Leu2779Met) c.8332C>A (p.Leu2778Met) c.8113C>A (p.Leu2705Met) c.6322C>A (p.Leu2108Met) c.5872C>A (p.Leu1958Met) c.5080C>A (p.Leu1694Met) c.8242C>A (p.Leu2748Met) | COSMIC |
8 | g.60865184C>G | CA371307913 | CHD7 | n.1421C>G n.352C>G c.*1304C>G (n.*1304C>G) c.8245C>G (p.Leu2749Val) c.2098C>G (p.Leu700Val) n.291C>G c.8335C>G (p.Leu2779Val) c.8332C>G (p.Leu2778Val) c.8113C>G (p.Leu2705Val) c.6322C>G (p.Leu2108Val) c.5872C>G (p.Leu1958Val) c.5080C>G (p.Leu1694Val) c.8242C>G (p.Leu2748Val) | |
8 | g.60865184C>T | CA461105862 | CHD7 | n.1421C>T n.352C>T c.*1304C>T (n.*1304C>T) c.8245C>T (p.Leu2749=) c.2098C>T (p.Leu700=) n.291C>T c.8335C>T (p.Leu2779=) c.8332C>T (p.Leu2778=) c.8113C>T (p.Leu2705=) c.6322C>T (p.Leu2108=) c.5872C>T (p.Leu1958=) c.5080C>T (p.Leu1694=) c.8242C>T (p.Leu2748=) | |
8 | g.60865185T>A | CA371307914 | CHD7 | n.1422T>A n.353T>A c.*1305T>A (n.*1305T>A) c.8246T>A (p.Leu2749Gln) c.2099T>A (p.Leu700Gln) n.292T>A c.8336T>A (p.Leu2779Gln) c.8333T>A (p.Leu2778Gln) c.8114T>A (p.Leu2705Gln) c.6323T>A (p.Leu2108Gln) c.5873T>A (p.Leu1958Gln) c.5081T>A (p.Leu1694Gln) c.8243T>A (p.Leu2748Gln) | |
8 | g.60865185T>C | CA371307915 | CHD7 | n.1422T>C n.353T>C c.*1305T>C (n.*1305T>C) c.8246T>C (p.Leu2749Pro) c.2099T>C (p.Leu700Pro) n.292T>C c.8336T>C (p.Leu2779Pro) c.8333T>C (p.Leu2778Pro) c.8114T>C (p.Leu2705Pro) c.6323T>C (p.Leu2108Pro) c.5873T>C (p.Leu1958Pro) c.5081T>C (p.Leu1694Pro) c.8243T>C (p.Leu2748Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865185T>G | CA371307917 | CHD7 | n.1422T>G n.353T>G c.*1305T>G (n.*1305T>G) c.8246T>G (p.Leu2749Arg) c.2099T>G (p.Leu700Arg) n.292T>G c.8336T>G (p.Leu2779Arg) c.8333T>G (p.Leu2778Arg) c.8114T>G (p.Leu2705Arg) c.6323T>G (p.Leu2108Arg) c.5873T>G (p.Leu1958Arg) c.5081T>G (p.Leu1694Arg) c.8243T>G (p.Leu2748Arg) | |
8 | g.60865185T= | CA1788129380 | CHD7 | n.1422T= n.353T= c.*1305T= (n.*1305T=) c.8246T= (p.Leu2749=) c.2099T= (p.Leu700=) n.292T= c.8336T= (p.Leu2779=) c.8333T= (p.Leu2778=) c.8114T= (p.Leu2705=) c.6323T= (p.Leu2108=) c.5873T= (p.Leu1958=) c.5081T= (p.Leu1694=) c.8243T= (p.Leu2748=) | |
8 | g.60865186G>A | CA461105863 | CHD7 | n.1423G>A n.354G>A c.*1306G>A (n.*1306G>A) c.8247G>A (p.Leu2749=) c.2100G>A (p.Leu700=) n.293G>A c.8337G>A (p.Leu2779=) c.8334G>A (p.Leu2778=) c.8115G>A (p.Leu2705=) c.6324G>A (p.Leu2108=) c.5874G>A (p.Leu1958=) c.5082G>A (p.Leu1694=) c.8244G>A (p.Leu2748=) | |
8 | g.60865186G>C | CA461105864 | CHD7 | n.1423G>C n.354G>C c.*1306G>C (n.*1306G>C) c.8247G>C (p.Leu2749=) c.2100G>C (p.Leu700=) n.293G>C c.8337G>C (p.Leu2779=) c.8334G>C (p.Leu2778=) c.8115G>C (p.Leu2705=) c.6324G>C (p.Leu2108=) c.5874G>C (p.Leu1958=) c.5082G>C (p.Leu1694=) c.8244G>C (p.Leu2748=) | |
8 | g.60865186G>T | CA461105865 | CHD7 | n.1423G>T n.354G>T c.*1306G>T (n.*1306G>T) c.8247G>T (p.Leu2749=) c.2100G>T (p.Leu700=) n.293G>T c.8337G>T (p.Leu2779=) c.8334G>T (p.Leu2778=) c.8115G>T (p.Leu2705=) c.6324G>T (p.Leu2108=) c.5874G>T (p.Leu1958=) c.5082G>T (p.Leu1694=) c.8244G>T (p.Leu2748=) | |
8 | g.60865187T>A | CA371307919 | CHD7 | n.1424T>A n.355T>A c.*1307T>A (n.*1307T>A) c.8248T>A (p.Phe2750Ile) c.2101T>A (p.Phe701Ile) n.294T>A c.8338T>A (p.Phe2780Ile) c.8335T>A (p.Phe2779Ile) c.8116T>A (p.Phe2706Ile) c.6325T>A (p.Phe2109Ile) c.5875T>A (p.Phe1959Ile) c.5083T>A (p.Phe1695Ile) c.8245T>A (p.Phe2749Ile) | |
8 | g.60865187T>C | CA371307922 | CHD7 | n.1424T>C n.355T>C c.*1307T>C (n.*1307T>C) c.8248T>C (p.Phe2750Leu) c.2101T>C (p.Phe701Leu) n.294T>C c.8338T>C (p.Phe2780Leu) c.8335T>C (p.Phe2779Leu) c.8116T>C (p.Phe2706Leu) c.6325T>C (p.Phe2109Leu) c.5875T>C (p.Phe1959Leu) c.5083T>C (p.Phe1695Leu) c.8245T>C (p.Phe2749Leu) | |
8 | g.60865187T>G | CA371307924 | CHD7 | n.1424T>G n.355T>G c.*1307T>G (n.*1307T>G) c.8248T>G (p.Phe2750Val) c.2101T>G (p.Phe701Val) n.294T>G c.8338T>G (p.Phe2780Val) c.8335T>G (p.Phe2779Val) c.8116T>G (p.Phe2706Val) c.6325T>G (p.Phe2109Val) c.5875T>G (p.Phe1959Val) c.5083T>G (p.Phe1695Val) c.8245T>G (p.Phe2749Val) | |
8 | g.60865188T>A | CA371307927 | CHD7 | n.1425T>A n.356T>A c.*1308T>A (n.*1308T>A) c.8249T>A (p.Phe2750Tyr) c.2102T>A (p.Phe701Tyr) n.295T>A c.8339T>A (p.Phe2780Tyr) c.8336T>A (p.Phe2779Tyr) c.8117T>A (p.Phe2706Tyr) c.6326T>A (p.Phe2109Tyr) c.5876T>A (p.Phe1959Tyr) c.5084T>A (p.Phe1695Tyr) c.8246T>A (p.Phe2749Tyr) | |
8 | g.60865188T>C | CA371307928 | CHD7 | n.1425T>C n.356T>C c.*1308T>C (n.*1308T>C) c.8249T>C (p.Phe2750Ser) c.2102T>C (p.Phe701Ser) n.295T>C c.8339T>C (p.Phe2780Ser) c.8336T>C (p.Phe2779Ser) c.8117T>C (p.Phe2706Ser) c.6326T>C (p.Phe2109Ser) c.5876T>C (p.Phe1959Ser) c.5084T>C (p.Phe1695Ser) c.8246T>C (p.Phe2749Ser) | |
8 | g.60865188T>G | CA371307929 | CHD7 | n.1425T>G n.356T>G c.*1308T>G (n.*1308T>G) c.8249T>G (p.Phe2750Cys) c.2102T>G (p.Phe701Cys) n.295T>G c.8339T>G (p.Phe2780Cys) c.8336T>G (p.Phe2779Cys) c.8117T>G (p.Phe2706Cys) c.6326T>G (p.Phe2109Cys) c.5876T>G (p.Phe1959Cys) c.5084T>G (p.Phe1695Cys) c.8246T>G (p.Phe2749Cys) | |
8 | g.60865189T>A | CA371307931 | CHD7 | n.1426T>A n.357T>A c.*1309T>A (n.*1309T>A) c.8250T>A (p.Phe2750Leu) c.2103T>A (p.Phe701Leu) n.296T>A c.8340T>A (p.Phe2780Leu) c.8337T>A (p.Phe2779Leu) c.8118T>A (p.Phe2706Leu) c.6327T>A (p.Phe2109Leu) c.5877T>A (p.Phe1959Leu) c.5085T>A (p.Phe1695Leu) c.8247T>A (p.Phe2749Leu) | |
8 | g.60865189T>C | CA461105866 | CHD7 | n.1426T>C n.357T>C c.*1309T>C (n.*1309T>C) c.8250T>C (p.Phe2750=) c.2103T>C (p.Phe701=) n.296T>C c.8340T>C (p.Phe2780=) c.8337T>C (p.Phe2779=) c.8118T>C (p.Phe2706=) c.6327T>C (p.Phe2109=) c.5877T>C (p.Phe1959=) c.5085T>C (p.Phe1695=) c.8247T>C (p.Phe2749=) | |
8 | g.60865189T>G | CA4760972 | CHD7 | n.1426T>G n.357T>G c.*1309T>G (n.*1309T>G) c.8250T>G (p.Phe2750Leu) c.2103T>G (p.Phe701Leu) n.296T>G c.8340T>G (p.Phe2780Leu) c.8337T>G (p.Phe2779Leu) c.8118T>G (p.Phe2706Leu) c.6327T>G (p.Phe2109Leu) c.5877T>G (p.Phe1959Leu) c.5085T>G (p.Phe1695Leu) c.8247T>G (p.Phe2749Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865189T= | CA1788129386 | CHD7 | n.1426T= n.357T= c.*1309T= (n.*1309T=) c.8250T= (p.Phe2750=) c.2103T= (p.Phe701=) n.296T= c.8340T= (p.Phe2780=) c.8337T= (p.Phe2779=) c.8118T= (p.Phe2706=) c.6327T= (p.Phe2109=) c.5877T= (p.Phe1959=) c.5085T= (p.Phe1695=) c.8247T= (p.Phe2749=) | |
8 | g.60865190G>A | CA371307941 | CHD7 | n.1427G>A n.358G>A c.*1310G>A (n.*1310G>A) c.8251G>A (p.Ala2751Thr) c.2104G>A (p.Ala702Thr) n.297G>A c.8341G>A (p.Ala2781Thr) c.8338G>A (p.Ala2780Thr) c.8119G>A (p.Ala2707Thr) c.6328G>A (p.Ala2110Thr) c.5878G>A (p.Ala1960Thr) c.5086G>A (p.Ala1696Thr) c.8248G>A (p.Ala2750Thr) | gnomAD v4 |
8 | g.60865190G>C | CA4760973 | CHD7 | n.1427G>C n.358G>C c.*1310G>C (n.*1310G>C) c.8251G>C (p.Ala2751Pro) c.2104G>C (p.Ala702Pro) n.297G>C c.8341G>C (p.Ala2781Pro) c.8338G>C (p.Ala2780Pro) c.8119G>C (p.Ala2707Pro) c.6328G>C (p.Ala2110Pro) c.5878G>C (p.Ala1960Pro) c.5086G>C (p.Ala1696Pro) c.8248G>C (p.Ala2750Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865190G= | CA1788129396 | CHD7 | n.1427G= n.358G= c.*1310G= (n.*1310G=) c.8251G= (p.Ala2751=) c.2104G= (p.Ala702=) n.297G= c.8341G= (p.Ala2781=) c.8338G= (p.Ala2780=) c.8119G= (p.Ala2707=) c.6328G= (p.Ala2110=) c.5878G= (p.Ala1960=) c.5086G= (p.Ala1696=) c.8248G= (p.Ala2750=) | |
8 | g.60865190G>T | CA371307935 | CHD7 | n.1427G>T n.358G>T c.*1310G>T (n.*1310G>T) c.8251G>T (p.Ala2751Ser) c.2104G>T (p.Ala702Ser) n.297G>T c.8341G>T (p.Ala2781Ser) c.8338G>T (p.Ala2780Ser) c.8119G>T (p.Ala2707Ser) c.6328G>T (p.Ala2110Ser) c.5878G>T (p.Ala1960Ser) c.5086G>T (p.Ala1696Ser) c.8248G>T (p.Ala2750Ser) | |
8 | g.60865191C>A | CA371307943 | CHD7 | n.1428C>A n.359C>A c.*1311C>A (n.*1311C>A) c.8252C>A (p.Ala2751Asp) c.2105C>A (p.Ala702Asp) n.298C>A c.8342C>A (p.Ala2781Asp) c.8339C>A (p.Ala2780Asp) c.8120C>A (p.Ala2707Asp) c.6329C>A (p.Ala2110Asp) c.5879C>A (p.Ala1960Asp) c.5087C>A (p.Ala1696Asp) c.8249C>A (p.Ala2750Asp) | |
8 | g.60865191C>G | CA371307951 | CHD7 | n.1428C>G n.359C>G c.*1311C>G (n.*1311C>G) c.8252C>G (p.Ala2751Gly) c.2105C>G (p.Ala702Gly) n.298C>G c.8342C>G (p.Ala2781Gly) c.8339C>G (p.Ala2780Gly) c.8120C>G (p.Ala2707Gly) c.6329C>G (p.Ala2110Gly) c.5879C>G (p.Ala1960Gly) c.5087C>G (p.Ala1696Gly) c.8249C>G (p.Ala2750Gly) | |
8 | g.60865191C>T | CA371307944 | CHD7 | n.1428C>T n.359C>T c.*1311C>T (n.*1311C>T) c.8252C>T (p.Ala2751Val) c.2105C>T (p.Ala702Val) n.298C>T c.8342C>T (p.Ala2781Val) c.8339C>T (p.Ala2780Val) c.8120C>T (p.Ala2707Val) c.6329C>T (p.Ala2110Val) c.5879C>T (p.Ala1960Val) c.5087C>T (p.Ala1696Val) c.8249C>T (p.Ala2750Val) | |
8 | g.60865192T>A | CA461105867 | CHD7 | n.1429T>A n.360T>A c.*1312T>A (n.*1312T>A) c.8253T>A (p.Ala2751=) c.2106T>A (p.Ala702=) n.299T>A c.8343T>A (p.Ala2781=) c.8340T>A (p.Ala2780=) c.8121T>A (p.Ala2707=) c.6330T>A (p.Ala2110=) c.5880T>A (p.Ala1960=) c.5088T>A (p.Ala1696=) c.8250T>A (p.Ala2750=) | |
8 | g.60865192T>C | CA461105868 | CHD7 | n.1429T>C n.360T>C c.*1312T>C (n.*1312T>C) c.8253T>C (p.Ala2751=) c.2106T>C (p.Ala702=) n.299T>C c.8343T>C (p.Ala2781=) c.8340T>C (p.Ala2780=) c.8121T>C (p.Ala2707=) c.6330T>C (p.Ala2110=) c.5880T>C (p.Ala1960=) c.5088T>C (p.Ala1696=) c.8250T>C (p.Ala2750=) | gnomAD v4 |
8 | g.60865192T>G | CA461105870 | CHD7 | n.1429T>G n.360T>G c.*1312T>G (n.*1312T>G) c.8253T>G (p.Ala2751=) c.2106T>G (p.Ala702=) n.299T>G c.8343T>G (p.Ala2781=) c.8340T>G (p.Ala2780=) c.8121T>G (p.Ala2707=) c.6330T>G (p.Ala2110=) c.5880T>G (p.Ala1960=) c.5088T>G (p.Ala1696=) c.8250T>G (p.Ala2750=) | |
8 | g.60865193G>A | CA4760974 | CHD7 | n.1430G>A n.361G>A c.*1313G>A (n.*1313G>A) c.8254G>A (p.Gly2752Arg) c.2107G>A (p.Gly703Arg) n.300G>A c.8344G>A (p.Gly2782Arg) c.8341G>A (p.Gly2781Arg) c.8122G>A (p.Gly2708Arg) c.6331G>A (p.Gly2111Arg) c.5881G>A (p.Gly1961Arg) c.5089G>A (p.Gly1697Arg) c.8251G>A (p.Gly2751Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865193G>C | CA371307956 | CHD7 | n.1430G>C n.361G>C c.*1313G>C (n.*1313G>C) c.8254G>C (p.Gly2752Arg) c.2107G>C (p.Gly703Arg) n.300G>C c.8344G>C (p.Gly2782Arg) c.8341G>C (p.Gly2781Arg) c.8122G>C (p.Gly2708Arg) c.6331G>C (p.Gly2111Arg) c.5881G>C (p.Gly1961Arg) c.5089G>C (p.Gly1697Arg) c.8251G>C (p.Gly2751Arg) | |
8 | g.60865193G= | CA1788129405 | CHD7 | n.1430G= n.361G= c.*1313G= (n.*1313G=) c.8254G= (p.Gly2752=) c.2107G= (p.Gly703=) n.300G= c.8344G= (p.Gly2782=) c.8341G= (p.Gly2781=) c.8122G= (p.Gly2708=) c.6331G= (p.Gly2111=) c.5881G= (p.Gly1961=) c.5089G= (p.Gly1697=) c.8251G= (p.Gly2751=) | |
8 | g.60865193G>T | CA371307955 | CHD7 | n.1430G>T n.361G>T c.*1313G>T (n.*1313G>T) c.8254G>T (p.Gly2752Ter) c.2107G>T (p.Gly703Ter) n.300G>T c.8344G>T (p.Gly2782Ter) c.8341G>T (p.Gly2781Ter) c.8122G>T (p.Gly2708Ter) c.6331G>T (p.Gly2111Ter) c.5881G>T (p.Gly1961Ter) c.5089G>T (p.Gly1697Ter) c.8251G>T (p.Gly2751Ter) | |
8 | g.60865194G>A | CA371307960 | CHD7 | n.1431G>A n.362G>A c.*1314G>A (n.*1314G>A) c.8255G>A (p.Gly2752Glu) c.2108G>A (p.Gly703Glu) n.301G>A c.8345G>A (p.Gly2782Glu) c.8342G>A (p.Gly2781Glu) c.8123G>A (p.Gly2708Glu) c.6332G>A (p.Gly2111Glu) c.5882G>A (p.Gly1961Glu) c.5090G>A (p.Gly1697Glu) c.8252G>A (p.Gly2751Glu) | gnomAD v4 |
8 | g.60865194G>C | CA371307962 | CHD7 | n.1431G>C n.362G>C c.*1314G>C (n.*1314G>C) c.8255G>C (p.Gly2752Ala) c.2108G>C (p.Gly703Ala) n.301G>C c.8345G>C (p.Gly2782Ala) c.8342G>C (p.Gly2781Ala) c.8123G>C (p.Gly2708Ala) c.6332G>C (p.Gly2111Ala) c.5882G>C (p.Gly1961Ala) c.5090G>C (p.Gly1697Ala) c.8252G>C (p.Gly2751Ala) | |
8 | g.60865194G>T | CA371307964 | CHD7 | n.1431G>T n.362G>T c.*1314G>T (n.*1314G>T) c.8255G>T (p.Gly2752Val) c.2108G>T (p.Gly703Val) n.301G>T c.8345G>T (p.Gly2782Val) c.8342G>T (p.Gly2781Val) c.8123G>T (p.Gly2708Val) c.6332G>T (p.Gly2111Val) c.5882G>T (p.Gly1961Val) c.5090G>T (p.Gly1697Val) c.8252G>T (p.Gly2751Val) | ClinVar |
8 | g.60865195A>C | CA461105872 | CHD7 | n.1432A>C n.363A>C c.*1315A>C (n.*1315A>C) c.8256A>C (p.Gly2752=) c.2109A>C (p.Gly703=) n.302A>C c.8346A>C (p.Gly2782=) c.8343A>C (p.Gly2781=) c.8124A>C (p.Gly2708=) c.6333A>C (p.Gly2111=) c.5883A>C (p.Gly1961=) c.5091A>C (p.Gly1697=) c.8253A>C (p.Gly2751=) | |
8 | g.60865195A>G | CA461105873 | CHD7 | n.1432A>G n.363A>G c.*1315A>G (n.*1315A>G) c.8256A>G (p.Gly2752=) c.2109A>G (p.Gly703=) n.302A>G c.8346A>G (p.Gly2782=) c.8343A>G (p.Gly2781=) c.8124A>G (p.Gly2708=) c.6333A>G (p.Gly2111=) c.5883A>G (p.Gly1961=) c.5091A>G (p.Gly1697=) c.8253A>G (p.Gly2751=) | gnomAD v4 |
8 | g.60865195A>T | CA461105874 | CHD7 | n.1432A>T n.363A>T c.*1315A>T (n.*1315A>T) c.8256A>T (p.Gly2752=) c.2109A>T (p.Gly703=) n.302A>T c.8346A>T (p.Gly2782=) c.8343A>T (p.Gly2781=) c.8124A>T (p.Gly2708=) c.6333A>T (p.Gly2111=) c.5883A>T (p.Gly1961=) c.5091A>T (p.Gly1697=) c.8253A>T (p.Gly2751=) | |
8 | g.60865196A>C | CA371307966 | CHD7 | n.1433A>C n.364A>C c.*1316A>C (n.*1316A>C) c.8257A>C (p.Met2753Leu) c.2110A>C (p.Met704Leu) n.303A>C c.8347A>C (p.Met2783Leu) c.8344A>C (p.Met2782Leu) c.8125A>C (p.Met2709Leu) c.6334A>C (p.Met2112Leu) c.5884A>C (p.Met1962Leu) c.5092A>C (p.Met1698Leu) c.8254A>C (p.Met2752Leu) | |
8 | g.60865196A>G | CA371307968 | CHD7 | n.1433A>G n.364A>G c.*1316A>G (n.*1316A>G) c.8257A>G (p.Met2753Val) c.2110A>G (p.Met704Val) n.303A>G c.8347A>G (p.Met2783Val) c.8344A>G (p.Met2782Val) c.8125A>G (p.Met2709Val) c.6334A>G (p.Met2112Val) c.5884A>G (p.Met1962Val) c.5092A>G (p.Met1698Val) c.8254A>G (p.Met2752Val) | ClinVar |
8 | g.60865196A>T | CA371307971 | CHD7 | n.1433A>T n.364A>T c.*1316A>T (n.*1316A>T) c.8257A>T (p.Met2753Leu) c.2110A>T (p.Met704Leu) n.303A>T c.8347A>T (p.Met2783Leu) c.8344A>T (p.Met2782Leu) c.8125A>T (p.Met2709Leu) c.6334A>T (p.Met2112Leu) c.5884A>T (p.Met1962Leu) c.5092A>T (p.Met1698Leu) c.8254A>T (p.Met2752Leu) | |
8 | g.60865197T>A | CA371307974 | CHD7 | n.1434T>A n.365T>A c.*1317T>A (n.*1317T>A) c.8258T>A (p.Met2753Lys) c.2111T>A (p.Met704Lys) n.304T>A c.8348T>A (p.Met2783Lys) c.8345T>A (p.Met2782Lys) c.8126T>A (p.Met2709Lys) c.6335T>A (p.Met2112Lys) c.5885T>A (p.Met1962Lys) c.5093T>A (p.Met1698Lys) c.8255T>A (p.Met2752Lys) | |
8 | g.60865197T>C | CA4760975 | CHD7 | n.1434T>C n.365T>C c.*1317T>C (n.*1317T>C) c.8258T>C (p.Met2753Thr) c.2111T>C (p.Met704Thr) n.304T>C c.8348T>C (p.Met2783Thr) c.8345T>C (p.Met2782Thr) c.8126T>C (p.Met2709Thr) c.6335T>C (p.Met2112Thr) c.5885T>C (p.Met1962Thr) c.5093T>C (p.Met1698Thr) c.8255T>C (p.Met2752Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865197T>G | CA4760976 | CHD7 | n.1434T>G n.365T>G c.*1317T>G (n.*1317T>G) c.8258T>G (p.Met2753Arg) c.2111T>G (p.Met704Arg) n.304T>G c.8348T>G (p.Met2783Arg) c.8345T>G (p.Met2782Arg) c.8126T>G (p.Met2709Arg) c.6335T>G (p.Met2112Arg) c.5885T>G (p.Met1962Arg) c.5093T>G (p.Met1698Arg) c.8255T>G (p.Met2752Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865197T= | CA1788129409 | CHD7 | n.1434T= n.365T= c.*1317T= (n.*1317T=) c.8258T= (p.Met2753=) c.2111T= (p.Met704=) n.304T= c.8348T= (p.Met2783=) c.8345T= (p.Met2782=) c.8126T= (p.Met2709=) c.6335T= (p.Met2112=) c.5885T= (p.Met1962=) c.5093T= (p.Met1698=) c.8255T= (p.Met2752=) | |
8 | g.60865198G>A | CA371307978 | CHD7 | n.1435G>A n.366G>A c.*1318G>A (n.*1318G>A) c.8259G>A (p.Met2753Ile) c.2112G>A (p.Met704Ile) n.305G>A c.8349G>A (p.Met2783Ile) c.8346G>A (p.Met2782Ile) c.8127G>A (p.Met2709Ile) c.6336G>A (p.Met2112Ile) c.5886G>A (p.Met1962Ile) c.5094G>A (p.Met1698Ile) c.8256G>A (p.Met2752Ile) | ClinVar gnomAD v4 |
8 | g.60865198G>C | CA371307980 | CHD7 | n.1435G>C n.366G>C c.*1318G>C (n.*1318G>C) c.8259G>C (p.Met2753Ile) c.2112G>C (p.Met704Ile) n.305G>C c.8349G>C (p.Met2783Ile) c.8346G>C (p.Met2782Ile) c.8127G>C (p.Met2709Ile) c.6336G>C (p.Met2112Ile) c.5886G>C (p.Met1962Ile) c.5094G>C (p.Met1698Ile) c.8256G>C (p.Met2752Ile) | |
8 | g.60865198G>T | CA371307985 | CHD7 | n.1435G>T n.366G>T c.*1318G>T (n.*1318G>T) c.8259G>T (p.Met2753Ile) c.2112G>T (p.Met704Ile) n.305G>T c.8349G>T (p.Met2783Ile) c.8346G>T (p.Met2782Ile) c.8127G>T (p.Met2709Ile) c.6336G>T (p.Met2112Ile) c.5886G>T (p.Met1962Ile) c.5094G>T (p.Met1698Ile) c.8256G>T (p.Met2752Ile) | |
8 | g.60865199G>A | CA371307993 | CHD7 | n.1436G>A n.367G>A c.*1319G>A (n.*1319G>A) c.8260G>A (p.Asp2754Asn) c.2113G>A (p.Asp705Asn) n.306G>A c.8350G>A (p.Asp2784Asn) c.8347G>A (p.Asp2783Asn) c.8128G>A (p.Asp2710Asn) c.6337G>A (p.Asp2113Asn) c.5887G>A (p.Asp1963Asn) c.5095G>A (p.Asp1699Asn) c.8257G>A (p.Asp2753Asn) | |
8 | g.60865199G>C | CA371307988 | CHD7 | n.1436G>C n.367G>C c.*1319G>C (n.*1319G>C) c.8260G>C (p.Asp2754His) c.2113G>C (p.Asp705His) n.306G>C c.8350G>C (p.Asp2784His) c.8347G>C (p.Asp2783His) c.8128G>C (p.Asp2710His) c.6337G>C (p.Asp2113His) c.5887G>C (p.Asp1963His) c.5095G>C (p.Asp1699His) c.8257G>C (p.Asp2753His) | |
8 | g.60865199G>T | CA371307990 | CHD7 | n.1436G>T n.367G>T c.*1319G>T (n.*1319G>T) c.8260G>T (p.Asp2754Tyr) c.2113G>T (p.Asp705Tyr) n.306G>T c.8350G>T (p.Asp2784Tyr) c.8347G>T (p.Asp2783Tyr) c.8128G>T (p.Asp2710Tyr) c.6337G>T (p.Asp2113Tyr) c.5887G>T (p.Asp1963Tyr) c.5095G>T (p.Asp1699Tyr) c.8257G>T (p.Asp2753Tyr) | |
8 | g.60865200A>C | CA371307995 | CHD7 | n.1437A>C n.368A>C c.*1320A>C (n.*1320A>C) c.8261A>C (p.Asp2754Ala) c.2114A>C (p.Asp705Ala) n.307A>C c.8351A>C (p.Asp2784Ala) c.8348A>C (p.Asp2783Ala) c.8129A>C (p.Asp2710Ala) c.6338A>C (p.Asp2113Ala) c.5888A>C (p.Asp1963Ala) c.5096A>C (p.Asp1699Ala) c.8258A>C (p.Asp2753Ala) | |
8 | g.60865200A>G | CA371307997 | CHD7 | n.1437A>G n.368A>G c.*1320A>G (n.*1320A>G) c.8261A>G (p.Asp2754Gly) c.2114A>G (p.Asp705Gly) n.307A>G c.8351A>G (p.Asp2784Gly) c.8348A>G (p.Asp2783Gly) c.8129A>G (p.Asp2710Gly) c.6338A>G (p.Asp2113Gly) c.5888A>G (p.Asp1963Gly) c.5096A>G (p.Asp1699Gly) c.8258A>G (p.Asp2753Gly) | |
8 | g.60865200A>T | CA371307998 | CHD7 | n.1437A>T n.368A>T c.*1320A>T (n.*1320A>T) c.8261A>T (p.Asp2754Val) c.2114A>T (p.Asp705Val) n.307A>T c.8351A>T (p.Asp2784Val) c.8348A>T (p.Asp2783Val) c.8129A>T (p.Asp2710Val) c.6338A>T (p.Asp2113Val) c.5888A>T (p.Asp1963Val) c.5096A>T (p.Asp1699Val) c.8258A>T (p.Asp2753Val) | |
8 | g.60865201C>A | CA371308000 | CHD7 | n.1438C>A n.369C>A c.*1321C>A (n.*1321C>A) c.8262C>A (p.Asp2754Glu) c.2115C>A (p.Asp705Glu) n.308C>A c.8352C>A (p.Asp2784Glu) c.8349C>A (p.Asp2783Glu) c.8130C>A (p.Asp2710Glu) c.6339C>A (p.Asp2113Glu) c.5889C>A (p.Asp1963Glu) c.5097C>A (p.Asp1699Glu) c.8259C>A (p.Asp2753Glu) | |
8 | g.60865201C= | CA1788129414 | CHD7 | n.1438C= n.369C= c.*1321C= (n.*1321C=) c.8262C= (p.Asp2754=) c.2115C= (p.Asp705=) n.308C= c.8352C= (p.Asp2784=) c.8349C= (p.Asp2783=) c.8130C= (p.Asp2710=) c.6339C= (p.Asp2113=) c.5889C= (p.Asp1963=) c.5097C= (p.Asp1699=) c.8259C= (p.Asp2753=) | |
8 | g.60865201C>G | CA371308002 | CHD7 | n.1438C>G n.369C>G c.*1321C>G (n.*1321C>G) c.8262C>G (p.Asp2754Glu) c.2115C>G (p.Asp705Glu) n.308C>G c.8352C>G (p.Asp2784Glu) c.8349C>G (p.Asp2783Glu) c.8130C>G (p.Asp2710Glu) c.6339C>G (p.Asp2113Glu) c.5889C>G (p.Asp1963Glu) c.5097C>G (p.Asp1699Glu) c.8259C>G (p.Asp2753Glu) | ClinVar dbSNP |
8 | g.60865201C>T | CA461105876 | CHD7 | n.1438C>T n.369C>T c.*1321C>T (n.*1321C>T) c.8262C>T (p.Asp2754=) c.2115C>T (p.Asp705=) n.308C>T c.8352C>T (p.Asp2784=) c.8349C>T (p.Asp2783=) c.8130C>T (p.Asp2710=) c.6339C>T (p.Asp2113=) c.5889C>T (p.Asp1963=) c.5097C>T (p.Asp1699=) c.8259C>T (p.Asp2753=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865202C>A | CA371308004 | CHD7 | n.1439C>A n.370C>A c.*1322C>A (n.*1322C>A) c.8263C>A (p.Leu2755Met) c.2116C>A (p.Leu706Met) n.309C>A c.8353C>A (p.Leu2785Met) c.8350C>A (p.Leu2784Met) c.8131C>A (p.Leu2711Met) c.6340C>A (p.Leu2114Met) c.5890C>A (p.Leu1964Met) c.5098C>A (p.Leu1700Met) c.8260C>A (p.Leu2754Met) | |
8 | g.60865202C= | CA1788129422 | CHD7 | n.1439C= n.370C= c.*1322C= (n.*1322C=) c.8263C= (p.Leu2755=) c.2116C= (p.Leu706=) n.309C= c.8353C= (p.Leu2785=) c.8350C= (p.Leu2784=) c.8131C= (p.Leu2711=) c.6340C= (p.Leu2114=) c.5890C= (p.Leu1964=) c.5098C= (p.Leu1700=) c.8260C= (p.Leu2754=) | |
8 | g.60865202C>G | CA371308007 | CHD7 | n.1439C>G n.370C>G c.*1322C>G (n.*1322C>G) c.8263C>G (p.Leu2755Val) c.2116C>G (p.Leu706Val) n.309C>G c.8353C>G (p.Leu2785Val) c.8350C>G (p.Leu2784Val) c.8131C>G (p.Leu2711Val) c.6340C>G (p.Leu2114Val) c.5890C>G (p.Leu1964Val) c.5098C>G (p.Leu1700Val) c.8260C>G (p.Leu2754Val) | |
8 | g.60865202C>T | CA461105879 | CHD7 | n.1439C>T n.370C>T c.*1322C>T (n.*1322C>T) c.8263C>T (p.Leu2755=) c.2116C>T (p.Leu706=) n.309C>T c.8353C>T (p.Leu2785=) c.8350C>T (p.Leu2784=) c.8131C>T (p.Leu2711=) c.6340C>T (p.Leu2114=) c.5890C>T (p.Leu1964=) c.5098C>T (p.Leu1700=) c.8260C>T (p.Leu2754=) | dbSNP |
8 | g.60865203T>A | CA371308010 | CHD7 | n.1440T>A n.371T>A c.*1323T>A (n.*1323T>A) c.8264T>A (p.Leu2755Gln) c.2117T>A (p.Leu706Gln) n.310T>A c.8354T>A (p.Leu2785Gln) c.8351T>A (p.Leu2784Gln) c.8132T>A (p.Leu2711Gln) c.6341T>A (p.Leu2114Gln) c.5891T>A (p.Leu1964Gln) c.5099T>A (p.Leu1700Gln) c.8261T>A (p.Leu2754Gln) | |
8 | g.60865203T>C | CA371308012 | CHD7 | n.1440T>C n.371T>C c.*1323T>C (n.*1323T>C) c.8264T>C (p.Leu2755Pro) c.2117T>C (p.Leu706Pro) n.310T>C c.8354T>C (p.Leu2785Pro) c.8351T>C (p.Leu2784Pro) c.8132T>C (p.Leu2711Pro) c.6341T>C (p.Leu2114Pro) c.5891T>C (p.Leu1964Pro) c.5099T>C (p.Leu1700Pro) c.8261T>C (p.Leu2754Pro) | gnomAD v4 |
8 | g.60865203T>G | CA371308014 | CHD7 | n.1440T>G n.371T>G c.*1323T>G (n.*1323T>G) c.8264T>G (p.Leu2755Arg) c.2117T>G (p.Leu706Arg) n.310T>G c.8354T>G (p.Leu2785Arg) c.8351T>G (p.Leu2784Arg) c.8132T>G (p.Leu2711Arg) c.6341T>G (p.Leu2114Arg) c.5891T>G (p.Leu1964Arg) c.5099T>G (p.Leu1700Arg) c.8261T>G (p.Leu2754Arg) | |
8 | g.60865204G>A | CA461105882 | CHD7 | n.1441G>A n.372G>A c.*1324G>A (n.*1324G>A) c.8265G>A (p.Leu2755=) c.2118G>A (p.Leu706=) n.311G>A c.8355G>A (p.Leu2785=) c.8352G>A (p.Leu2784=) c.8133G>A (p.Leu2711=) c.6342G>A (p.Leu2114=) c.5892G>A (p.Leu1964=) c.5100G>A (p.Leu1700=) c.8262G>A (p.Leu2754=) | |
8 | g.60865204G>C | CA461105883 | CHD7 | n.1441G>C n.372G>C c.*1324G>C (n.*1324G>C) c.8265G>C (p.Leu2755=) c.2118G>C (p.Leu706=) n.311G>C c.8355G>C (p.Leu2785=) c.8352G>C (p.Leu2784=) c.8133G>C (p.Leu2711=) c.6342G>C (p.Leu2114=) c.5892G>C (p.Leu1964=) c.5100G>C (p.Leu1700=) c.8262G>C (p.Leu2754=) | |
8 | g.60865204G>T | CA461105881 | CHD7 | n.1441G>T n.372G>T c.*1324G>T (n.*1324G>T) c.8265G>T (p.Leu2755=) c.2118G>T (p.Leu706=) n.311G>T c.8355G>T (p.Leu2785=) c.8352G>T (p.Leu2784=) c.8133G>T (p.Leu2711=) c.6342G>T (p.Leu2114=) c.5892G>T (p.Leu1964=) c.5100G>T (p.Leu1700=) c.8262G>T (p.Leu2754=) | |
8 | g.60865205A>C | CA371308020 | CHD7 | n.1442A>C n.373A>C c.*1325A>C (n.*1325A>C) c.8266A>C (p.Thr2756Pro) c.2119A>C (p.Thr707Pro) n.312A>C c.8356A>C (p.Thr2786Pro) c.8353A>C (p.Thr2785Pro) c.8134A>C (p.Thr2712Pro) c.6343A>C (p.Thr2115Pro) c.5893A>C (p.Thr1965Pro) c.5101A>C (p.Thr1701Pro) c.8263A>C (p.Thr2755Pro) | |
8 | g.60865205A>G | CA371308018 | CHD7 | n.1442A>G n.373A>G c.*1325A>G (n.*1325A>G) c.8266A>G (p.Thr2756Ala) c.2119A>G (p.Thr707Ala) n.312A>G c.8356A>G (p.Thr2786Ala) c.8353A>G (p.Thr2785Ala) c.8134A>G (p.Thr2712Ala) c.6343A>G (p.Thr2115Ala) c.5893A>G (p.Thr1965Ala) c.5101A>G (p.Thr1701Ala) c.8263A>G (p.Thr2755Ala) | |
8 | g.60865205A>T | CA371308016 | CHD7 | n.1442A>T n.373A>T c.*1325A>T (n.*1325A>T) c.8266A>T (p.Thr2756Ser) c.2119A>T (p.Thr707Ser) n.312A>T c.8356A>T (p.Thr2786Ser) c.8353A>T (p.Thr2785Ser) c.8134A>T (p.Thr2712Ser) c.6343A>T (p.Thr2115Ser) c.5893A>T (p.Thr1965Ser) c.5101A>T (p.Thr1701Ser) c.8263A>T (p.Thr2755Ser) | |
8 | g.60865206del | CA2695203180 | CHD7 | n.1443del n.374del c.*1326del (n.*1326del) c.8267del (p.Thr2756ArgfsTer?) c.2120del (p.Thr707ArgfsTer?) n.313del c.8357del (p.Thr2786ArgfsTer?) c.8354del (p.Thr2785ArgfsTer?) c.8135del (p.Thr2712ArgfsTer?) c.6344del (p.Thr2115ArgfsTer?) c.5894del (p.Thr1965ArgfsTer?) c.5102del (p.Thr1701ArgfsTer?) c.8264del (p.Thr2755ArgfsTer?) | |
8 | g.60865206C>A | CA371308022 | CHD7 | n.1443C>A n.374C>A c.*1326C>A (n.*1326C>A) c.8267C>A (p.Thr2756Lys) c.2120C>A (p.Thr707Lys) n.313C>A c.8357C>A (p.Thr2786Lys) c.8354C>A (p.Thr2785Lys) c.8135C>A (p.Thr2712Lys) c.6344C>A (p.Thr2115Lys) c.5894C>A (p.Thr1965Lys) c.5102C>A (p.Thr1701Lys) c.8264C>A (p.Thr2755Lys) | gnomAD v4 |
8 | g.60865206C= | CA1788129426 | CHD7 | n.1443C= n.374C= c.*1326C= (n.*1326C=) c.8267C= (p.Thr2756=) c.2120C= (p.Thr707=) n.313C= c.8357C= (p.Thr2786=) c.8354C= (p.Thr2785=) c.8135C= (p.Thr2712=) c.6344C= (p.Thr2115=) c.5894C= (p.Thr1965=) c.5102C= (p.Thr1701=) c.8264C= (p.Thr2755=) | |
8 | g.60865206C>G | CA371308023 | CHD7 | n.1443C>G n.374C>G c.*1326C>G (n.*1326C>G) c.8267C>G (p.Thr2756Arg) c.2120C>G (p.Thr707Arg) n.313C>G c.8357C>G (p.Thr2786Arg) c.8354C>G (p.Thr2785Arg) c.8135C>G (p.Thr2712Arg) c.6344C>G (p.Thr2115Arg) c.5894C>G (p.Thr1965Arg) c.5102C>G (p.Thr1701Arg) c.8264C>G (p.Thr2755Arg) | |
8 | g.60865206C>T | CA4760977 | CHD7 | n.1443C>T n.374C>T c.*1326C>T (n.*1326C>T) c.8267C>T (p.Thr2756Met) c.2120C>T (p.Thr707Met) n.313C>T c.8357C>T (p.Thr2786Met) c.8354C>T (p.Thr2785Met) c.8135C>T (p.Thr2712Met) c.6344C>T (p.Thr2115Met) c.5894C>T (p.Thr1965Met) c.5102C>T (p.Thr1701Met) c.8264C>T (p.Thr2755Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865207G>A | CA461105887 | CHD7 | n.1444G>A n.375G>A c.*1327G>A (n.*1327G>A) c.8268G>A (p.Thr2756=) c.2121G>A (p.Thr707=) n.314G>A c.8358G>A (p.Thr2786=) c.8355G>A (p.Thr2785=) c.8136G>A (p.Thr2712=) c.6345G>A (p.Thr2115=) c.5895G>A (p.Thr1965=) c.5103G>A (p.Thr1701=) c.8265G>A (p.Thr2755=) | dbSNP gnomAD v4 COSMIC |
8 | g.60865207G>C | CA461105888 | CHD7 | n.1444G>C n.375G>C c.*1327G>C (n.*1327G>C) c.8268G>C (p.Thr2756=) c.2121G>C (p.Thr707=) n.314G>C c.8358G>C (p.Thr2786=) c.8355G>C (p.Thr2785=) c.8136G>C (p.Thr2712=) c.6345G>C (p.Thr2115=) c.5895G>C (p.Thr1965=) c.5103G>C (p.Thr1701=) c.8265G>C (p.Thr2755=) | |
8 | g.60865207G= | CA1788129429 | CHD7 | n.1444G= n.375G= c.*1327G= (n.*1327G=) c.8268G= (p.Thr2756=) c.2121G= (p.Thr707=) n.314G= c.8358G= (p.Thr2786=) c.8355G= (p.Thr2785=) c.8136G= (p.Thr2712=) c.6345G= (p.Thr2115=) c.5895G= (p.Thr1965=) c.5103G= (p.Thr1701=) c.8265G= (p.Thr2755=) | |
8 | g.60865207G>T | CA461105889 | CHD7 | n.1444G>T n.375G>T c.*1327G>T (n.*1327G>T) c.8268G>T (p.Thr2756=) c.2121G>T (p.Thr707=) n.314G>T c.8358G>T (p.Thr2786=) c.8355G>T (p.Thr2785=) c.8136G>T (p.Thr2712=) c.6345G>T (p.Thr2115=) c.5895G>T (p.Thr1965=) c.5103G>T (p.Thr1701=) c.8265G>T (p.Thr2755=) | |
8 | g.60865208A= | CA1788129432 | CHD7 | n.1445A= n.376A= c.*1328A= (n.*1328A=) c.8269A= (p.Ser2757=) c.2122A= (p.Ser708=) n.315A= c.8359A= (p.Ser2787=) c.8356A= (p.Ser2786=) c.8137A= (p.Ser2713=) c.6346A= (p.Ser2116=) c.5896A= (p.Ser1966=) c.5104A= (p.Ser1702=) c.8266A= (p.Ser2756=) | |
8 | g.60865208A>C | CA4760978 | CHD7 | n.1445A>C n.376A>C c.*1328A>C (n.*1328A>C) c.8269A>C (p.Ser2757Arg) c.2122A>C (p.Ser708Arg) n.315A>C c.8359A>C (p.Ser2787Arg) c.8356A>C (p.Ser2786Arg) c.8137A>C (p.Ser2713Arg) c.6346A>C (p.Ser2116Arg) c.5896A>C (p.Ser1966Arg) c.5104A>C (p.Ser1702Arg) c.8266A>C (p.Ser2756Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865208A>G | CA371308028 | CHD7 | n.1445A>G n.376A>G c.*1328A>G (n.*1328A>G) c.8269A>G (p.Ser2757Gly) c.2122A>G (p.Ser708Gly) n.315A>G c.8359A>G (p.Ser2787Gly) c.8356A>G (p.Ser2786Gly) c.8137A>G (p.Ser2713Gly) c.6346A>G (p.Ser2116Gly) c.5896A>G (p.Ser1966Gly) c.5104A>G (p.Ser1702Gly) c.8266A>G (p.Ser2756Gly) | |
8 | g.60865208A>T | CA371308030 | CHD7 | n.1445A>T n.376A>T c.*1328A>T (n.*1328A>T) c.8269A>T (p.Ser2757Cys) c.2122A>T (p.Ser708Cys) n.315A>T c.8359A>T (p.Ser2787Cys) c.8356A>T (p.Ser2786Cys) c.8137A>T (p.Ser2713Cys) c.6346A>T (p.Ser2116Cys) c.5896A>T (p.Ser1966Cys) c.5104A>T (p.Ser1702Cys) c.8266A>T (p.Ser2756Cys) | |
8 | g.60865209G>A | CA371308035 | CHD7 | n.1446G>A n.377G>A c.*1329G>A (n.*1329G>A) c.8270G>A (p.Ser2757Asn) c.2123G>A (p.Ser708Asn) n.316G>A c.8360G>A (p.Ser2787Asn) c.8357G>A (p.Ser2786Asn) c.8138G>A (p.Ser2713Asn) c.6347G>A (p.Ser2116Asn) c.5897G>A (p.Ser1966Asn) c.5105G>A (p.Ser1702Asn) c.8267G>A (p.Ser2756Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865209G>C | CA371308033 | CHD7 | n.1446G>C n.377G>C c.*1329G>C (n.*1329G>C) c.8270G>C (p.Ser2757Thr) c.2123G>C (p.Ser708Thr) n.316G>C c.8360G>C (p.Ser2787Thr) c.8357G>C (p.Ser2786Thr) c.8138G>C (p.Ser2713Thr) c.6347G>C (p.Ser2116Thr) c.5897G>C (p.Ser1966Thr) c.5105G>C (p.Ser1702Thr) c.8267G>C (p.Ser2756Thr) | |
8 | g.60865209G= | CA1788129438 | CHD7 | n.1446G= n.377G= c.*1329G= (n.*1329G=) c.8270G= (p.Ser2757=) c.2123G= (p.Ser708=) n.316G= c.8360G= (p.Ser2787=) c.8357G= (p.Ser2786=) c.8138G= (p.Ser2713=) c.6347G= (p.Ser2116=) c.5897G= (p.Ser1966=) c.5105G= (p.Ser1702=) c.8267G= (p.Ser2756=) | |
8 | g.60865209G>T | CA371308034 | CHD7 | n.1446G>T n.377G>T c.*1329G>T (n.*1329G>T) c.8270G>T (p.Ser2757Ile) c.2123G>T (p.Ser708Ile) n.316G>T c.8360G>T (p.Ser2787Ile) c.8357G>T (p.Ser2786Ile) c.8138G>T (p.Ser2713Ile) c.6347G>T (p.Ser2116Ile) c.5897G>T (p.Ser1966Ile) c.5105G>T (p.Ser1702Ile) c.8267G>T (p.Ser2756Ile) | ClinVar |
8 | g.60865210C>A | CA371308038 | CHD7 | n.1447C>A n.378C>A c.*1330C>A (n.*1330C>A) c.8271C>A (p.Ser2757Arg) c.2124C>A (p.Ser708Arg) n.317C>A c.8361C>A (p.Ser2787Arg) c.8358C>A (p.Ser2786Arg) c.8139C>A (p.Ser2713Arg) c.6348C>A (p.Ser2116Arg) c.5898C>A (p.Ser1966Arg) c.5106C>A (p.Ser1702Arg) c.8268C>A (p.Ser2756Arg) | |
8 | g.60865210C>G | CA371308040 | CHD7 | n.1447C>G n.378C>G c.*1330C>G (n.*1330C>G) c.8271C>G (p.Ser2757Arg) c.2124C>G (p.Ser708Arg) n.317C>G c.8361C>G (p.Ser2787Arg) c.8358C>G (p.Ser2786Arg) c.8139C>G (p.Ser2713Arg) c.6348C>G (p.Ser2116Arg) c.5898C>G (p.Ser1966Arg) c.5106C>G (p.Ser1702Arg) c.8268C>G (p.Ser2756Arg) | gnomAD v4 |
8 | g.60865210C>T | CA461105890 | CHD7 | n.1447C>T n.378C>T c.*1330C>T (n.*1330C>T) c.8271C>T (p.Ser2757=) c.2124C>T (p.Ser708=) n.317C>T c.8361C>T (p.Ser2787=) c.8358C>T (p.Ser2786=) c.8139C>T (p.Ser2713=) c.6348C>T (p.Ser2116=) c.5898C>T (p.Ser1966=) c.5106C>T (p.Ser1702=) c.8268C>T (p.Ser2756=) | |
8 | g.60865211C>A | CA371308042 | CHD7 | n.1448C>A n.379C>A c.*1331C>A (n.*1331C>A) c.8272C>A (p.Leu2758Ile) c.2125C>A (p.Leu709Ile) n.318C>A c.8362C>A (p.Leu2788Ile) c.8359C>A (p.Leu2787Ile) c.8140C>A (p.Leu2714Ile) c.6349C>A (p.Leu2117Ile) c.5899C>A (p.Leu1967Ile) c.5107C>A (p.Leu1703Ile) c.8269C>A (p.Leu2757Ile) | |
8 | g.60865211C>G | CA371308044 | CHD7 | n.1448C>G n.379C>G c.*1331C>G (n.*1331C>G) c.8272C>G (p.Leu2758Val) c.2125C>G (p.Leu709Val) n.318C>G c.8362C>G (p.Leu2788Val) c.8359C>G (p.Leu2787Val) c.8140C>G (p.Leu2714Val) c.6349C>G (p.Leu2117Val) c.5899C>G (p.Leu1967Val) c.5107C>G (p.Leu1703Val) c.8269C>G (p.Leu2757Val) | |
8 | g.60865211C>T | CA371308047 | CHD7 | n.1448C>T n.379C>T c.*1331C>T (n.*1331C>T) c.8272C>T (p.Leu2758Phe) c.2125C>T (p.Leu709Phe) n.318C>T c.8362C>T (p.Leu2788Phe) c.8359C>T (p.Leu2787Phe) c.8140C>T (p.Leu2714Phe) c.6349C>T (p.Leu2117Phe) c.5899C>T (p.Leu1967Phe) c.5107C>T (p.Leu1703Phe) c.8269C>T (p.Leu2757Phe) | |
8 | g.60865212T>A | CA371308050 | CHD7 | n.1449T>A n.380T>A c.*1332T>A (n.*1332T>A) c.8273T>A (p.Leu2758His) c.2126T>A (p.Leu709His) n.319T>A c.8363T>A (p.Leu2788His) c.8360T>A (p.Leu2787His) c.8141T>A (p.Leu2714His) c.6350T>A (p.Leu2117His) c.5900T>A (p.Leu1967His) c.5108T>A (p.Leu1703His) c.8270T>A (p.Leu2757His) | |
8 | g.60865212T>C | CA371308054 | CHD7 | n.1449T>C n.380T>C c.*1332T>C (n.*1332T>C) c.8273T>C (p.Leu2758Pro) c.2126T>C (p.Leu709Pro) n.319T>C c.8363T>C (p.Leu2788Pro) c.8360T>C (p.Leu2787Pro) c.8141T>C (p.Leu2714Pro) c.6350T>C (p.Leu2117Pro) c.5900T>C (p.Leu1967Pro) c.5108T>C (p.Leu1703Pro) c.8270T>C (p.Leu2757Pro) | COSMIC |
8 | g.60865212T>G | CA371308052 | CHD7 | n.1449T>G n.380T>G c.*1332T>G (n.*1332T>G) c.8273T>G (p.Leu2758Arg) c.2126T>G (p.Leu709Arg) n.319T>G c.8363T>G (p.Leu2788Arg) c.8360T>G (p.Leu2787Arg) c.8141T>G (p.Leu2714Arg) c.6350T>G (p.Leu2117Arg) c.5900T>G (p.Leu1967Arg) c.5108T>G (p.Leu1703Arg) c.8270T>G (p.Leu2757Arg) | |
8 | g.60865213T>A | CA461105744 | CHD7 | n.1450T>A n.381T>A c.*1333T>A (n.*1333T>A) c.8274T>A (p.Leu2758=) c.2127T>A (p.Leu709=) n.320T>A c.8364T>A (p.Leu2788=) c.8361T>A (p.Leu2787=) c.8142T>A (p.Leu2714=) c.6351T>A (p.Leu2117=) c.5901T>A (p.Leu1967=) c.5109T>A (p.Leu1703=) c.8271T>A (p.Leu2757=) | |
8 | g.60865213T>C | CA177329262 | CHD7 | n.1450T>C n.381T>C c.*1333T>C (n.*1333T>C) c.8274T>C (p.Leu2758=) c.2127T>C (p.Leu709=) n.320T>C c.8364T>C (p.Leu2788=) c.8361T>C (p.Leu2787=) c.8142T>C (p.Leu2714=) c.6351T>C (p.Leu2117=) c.5901T>C (p.Leu1967=) c.5109T>C (p.Leu1703=) c.8271T>C (p.Leu2757=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865213T>G | CA461105747 | CHD7 | n.1450T>G n.381T>G c.*1333T>G (n.*1333T>G) c.8274T>G (p.Leu2758=) c.2127T>G (p.Leu709=) n.320T>G c.8364T>G (p.Leu2788=) c.8361T>G (p.Leu2787=) c.8142T>G (p.Leu2714=) c.6351T>G (p.Leu2117=) c.5901T>G (p.Leu1967=) c.5109T>G (p.Leu1703=) c.8271T>G (p.Leu2757=) | |
8 | g.60865213T= | CA1788129454 | CHD7 | n.1450T= n.381T= c.*1333T= (n.*1333T=) c.8274T= (p.Leu2758=) c.2127T= (p.Leu709=) n.320T= c.8364T= (p.Leu2788=) c.8361T= (p.Leu2787=) c.8142T= (p.Leu2714=) c.6351T= (p.Leu2117=) c.5901T= (p.Leu1967=) c.5109T= (p.Leu1703=) c.8271T= (p.Leu2757=) | |
8 | g.60865213_60865222delinsTCAGAATCTC | CA1788129450 | CHD7 | n.1450_1459delinsTCAGAATCTC n.381_390delinsTCAGAATCTC c.*1333_*1342delinsTCAGAATCTC (n.*1333_*1342delinsTCAGAATCTC) c.8274_8283delinsTCAGAATCTC (p.Leu2758=) c.2127_2136delinsTCAGAATCTC (p.Leu709=) n.320_329delinsTCAGAATCTC c.8364_8373delinsTCAGAATCTC (p.Leu2788=) c.8361_8370delinsTCAGAATCTC (p.Leu2787=) c.8142_8151delinsTCAGAATCTC (p.Leu2714=) c.6351_6360delinsTCAGAATCTC (p.Leu2117=) c.5901_5910delinsTCAGAATCTC (p.Leu1967=) c.5109_5118delinsTCAGAATCTC (p.Leu1703=) c.8271_8280delinsTCAGAATCTC (p.Leu2757=) | |
8 | g.60865214C>A | CA371308058 | CHD7 | n.1451C>A n.382C>A c.*1334C>A (n.*1334C>A) c.8275C>A (p.Gln2759Lys) c.2128C>A (p.Gln710Lys) n.321C>A c.8365C>A (p.Gln2789Lys) c.8362C>A (p.Gln2788Lys) c.8143C>A (p.Gln2715Lys) c.6352C>A (p.Gln2118Lys) c.5902C>A (p.Gln1968Lys) c.5110C>A (p.Gln1704Lys) c.8272C>A (p.Gln2758Lys) | |
8 | g.60865214C>G | CA371308059 | CHD7 | n.1451C>G n.382C>G c.*1334C>G (n.*1334C>G) c.8275C>G (p.Gln2759Glu) c.2128C>G (p.Gln710Glu) n.321C>G c.8365C>G (p.Gln2789Glu) c.8362C>G (p.Gln2788Glu) c.8143C>G (p.Gln2715Glu) c.6352C>G (p.Gln2118Glu) c.5902C>G (p.Gln1968Glu) c.5110C>G (p.Gln1704Glu) c.8272C>G (p.Gln2758Glu) | |
8 | g.60865214C>T | CA371308060 | CHD7 | n.1451C>T n.382C>T c.*1334C>T (n.*1334C>T) c.8275C>T (p.Gln2759Ter) c.2128C>T (p.Gln710Ter) n.321C>T c.8365C>T (p.Gln2789Ter) c.8362C>T (p.Gln2788Ter) c.8143C>T (p.Gln2715Ter) c.6352C>T (p.Gln2118Ter) c.5902C>T (p.Gln1968Ter) c.5110C>T (p.Gln1704Ter) c.8272C>T (p.Gln2758Ter) | gnomAD v4 |
8 | g.60865226_60865234dup | CA4760979 | CHD7 | n.1463_1471dup n.394_402dup c.*1346_*1354dup (n.*1346_*1354dup) c.8287_8295dup (p.Gln2765_Ser2766insAsnLeuGln) c.2140_2148dup (p.Gln716_Ser717insAsnLeuGln) n.333_341dup c.8377_8385dup (p.Gln2795_Ser2796insAsnLeuGln) c.8374_8382dup (p.Gln2794_Ser2795insAsnLeuGln) c.8155_8163dup (p.Gln2721_Ser2722insAsnLeuGln) c.6364_6372dup (p.Gln2124_Ser2125insAsnLeuGln) c.5914_5922dup (p.Gln1974_Ser1975insAsnLeuGln) c.5122_5130dup (p.Gln1710_Ser1711insAsnLeuGln) c.8284_8292dup (p.Gln2764_Ser2765insAsnLeuGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865226_60865234del | CA4760980 | CHD7 | n.1463_1471del n.394_402del c.*1346_*1354del (n.*1346_*1354del) c.8287_8295del (p.Asn2763_Gln2765del) c.2140_2148del (p.Asn714_Gln716del) n.333_341del c.8377_8385del (p.Asn2793_Gln2795del) c.8374_8382del (p.Asn2792_Gln2794del) c.8155_8163del (p.Asn2719_Gln2721del) c.6364_6372del (p.Asn2122_Gln2124del) c.5914_5922del (p.Asn1972_Gln1974del) c.5122_5130del (p.Asn1708_Gln1710del) c.8284_8292del (p.Asn2762_Gln2764del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865215A= | CA1788129477 | CHD7 | n.1452A= n.383A= c.*1335A= (n.*1335A=) c.8276A= (p.Gln2759=) c.2129A= (p.Gln710=) n.322A= c.8366A= (p.Gln2789=) c.8363A= (p.Gln2788=) c.8144A= (p.Gln2715=) c.6353A= (p.Gln2118=) c.5903A= (p.Gln1968=) c.5111A= (p.Gln1704=) c.8273A= (p.Gln2758=) | |
8 | g.60865215A>C | CA371308061 | CHD7 | n.1452A>C n.383A>C c.*1335A>C (n.*1335A>C) c.8276A>C (p.Gln2759Pro) c.2129A>C (p.Gln710Pro) n.322A>C c.8366A>C (p.Gln2789Pro) c.8363A>C (p.Gln2788Pro) c.8144A>C (p.Gln2715Pro) c.6353A>C (p.Gln2118Pro) c.5903A>C (p.Gln1968Pro) c.5111A>C (p.Gln1704Pro) c.8273A>C (p.Gln2758Pro) | dbSNP |
8 | g.60865215A>G | CA371308062 | CHD7 | n.1452A>G n.383A>G c.*1335A>G (n.*1335A>G) c.8276A>G (p.Gln2759Arg) c.2129A>G (p.Gln710Arg) n.322A>G c.8366A>G (p.Gln2789Arg) c.8363A>G (p.Gln2788Arg) c.8144A>G (p.Gln2715Arg) c.6353A>G (p.Gln2118Arg) c.5903A>G (p.Gln1968Arg) c.5111A>G (p.Gln1704Arg) c.8273A>G (p.Gln2758Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.60865215A>T | CA371308063 | CHD7 | n.1452A>T n.383A>T c.*1335A>T (n.*1335A>T) c.8276A>T (p.Gln2759Leu) c.2129A>T (p.Gln710Leu) n.322A>T c.8366A>T (p.Gln2789Leu) c.8363A>T (p.Gln2788Leu) c.8144A>T (p.Gln2715Leu) c.6353A>T (p.Gln2118Leu) c.5903A>T (p.Gln1968Leu) c.5111A>T (p.Gln1704Leu) c.8273A>T (p.Gln2758Leu) |