| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60841886_60841891del | CA2515211869 | CHD7 | c.4684_4689del (p.Thr1562_Arg1563del) c.1717-20343_1717-20338del (n.1717-20343_1717-20338del) c.2671_2676del (p.Thr891_Arg892del) c.2221_2226del (p.Thr741_Arg742del) c.1429_1434del (p.Thr477_Arg478del) | |
| 8 | g.60841889A>C | CA460848149 | CHD7 | c.4687A>C (p.Arg1563=) c.1717-20340A>C (n.1717-20340A>C) c.2674A>C (p.Arg892=) c.2224A>C (p.Arg742=) c.1432A>C (p.Arg478=) | |
| 8 | g.60841889A>G | CA371319031 | CHD7 | c.4687A>G (p.Arg1563Gly) c.1717-20340A>G (n.1717-20340A>G) c.2674A>G (p.Arg892Gly) c.2224A>G (p.Arg742Gly) c.1432A>G (p.Arg478Gly) | |
| 8 | g.60841889A>T | CA371319033 | CHD7 | c.4687A>T (p.Arg1563Trp) c.1717-20340A>T (n.1717-20340A>T) c.2674A>T (p.Arg892Trp) c.2224A>T (p.Arg742Trp) c.1432A>T (p.Arg478Trp) | |
| 8 | g.60841890G>A | CA371319035 | CHD7 | c.4688G>A (p.Arg1563Lys) c.1717-20339G>A (n.1717-20339G>A) c.2675G>A (p.Arg892Lys) c.2225G>A (p.Arg742Lys) c.1433G>A (p.Arg478Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841890G>C | CA371319036 | CHD7 | c.4688G>C (p.Arg1563Thr) c.1717-20339G>C (n.1717-20339G>C) c.2675G>C (p.Arg892Thr) c.2225G>C (p.Arg742Thr) c.1433G>C (p.Arg478Thr) | |
| 8 | g.60841890G= | CA1788122879 | CHD7 | c.4688G= (p.Arg1563=) c.1717-20339G= (n.1717-20339G=) c.2675G= (p.Arg892=) c.2225G= (p.Arg742=) c.1433G= (p.Arg478=) | |
| 8 | g.60841890G>T | CA371319037 | CHD7 | c.4688G>T (p.Arg1563Met) c.1717-20339G>T (n.1717-20339G>T) c.2675G>T (p.Arg892Met) c.2225G>T (p.Arg742Met) c.1433G>T (p.Arg478Met) | |
| 8 | g.60841891G>A | CA460848152 | CHD7 | c.4689G>A (p.Arg1563=) c.1717-20338G>A (n.1717-20338G>A) c.2676G>A (p.Arg892=) c.2226G>A (p.Arg742=) c.1434G>A (p.Arg478=) | |
| 8 | g.60841891G>C | CA371319039 | CHD7 | c.4689G>C (p.Arg1563Ser) c.1717-20338G>C (n.1717-20338G>C) c.2676G>C (p.Arg892Ser) c.2226G>C (p.Arg742Ser) c.1434G>C (p.Arg478Ser) | |
| 8 | g.60841891G= | CA1788122884 | CHD7 | c.4689G= (p.Arg1563=) c.1717-20338G= (n.1717-20338G=) c.2676G= (p.Arg892=) c.2226G= (p.Arg742=) c.1434G= (p.Arg478=) | |
| 8 | g.60841891G>T | CA371319041 | CHD7 | c.4689G>T (p.Arg1563Ser) c.1717-20338G>T (n.1717-20338G>T) c.2676G>T (p.Arg892Ser) c.2226G>T (p.Arg742Ser) c.1434G>T (p.Arg478Ser) | |
| 8 | g.60841892C>A | CA371319042 | CHD7 | c.4690C>A (p.Leu1564Ile) c.1717-20337C>A (n.1717-20337C>A) c.2677C>A (p.Leu893Ile) c.2227C>A (p.Leu743Ile) c.1435C>A (p.Leu479Ile) | |
| 8 | g.60841892C= | CA1788122891 | CHD7 | c.4690C= (p.Leu1564=) c.1717-20337C= (n.1717-20337C=) c.2677C= (p.Leu893=) c.2227C= (p.Leu743=) c.1435C= (p.Leu479=) | |
| 8 | g.60841892C>G | CA371319045 | CHD7 | c.4690C>G (p.Leu1564Val) c.1717-20337C>G (n.1717-20337C>G) c.2677C>G (p.Leu893Val) c.2227C>G (p.Leu743Val) c.1435C>G (p.Leu479Val) | |
| 8 | g.60841892C>T | CA371319044 | CHD7 | c.4690C>T (p.Leu1564Phe) c.1717-20337C>T (n.1717-20337C>T) c.2677C>T (p.Leu893Phe) c.2227C>T (p.Leu743Phe) c.1435C>T (p.Leu479Phe) | dbSNP gnomAD v2 |
| 8 | g.60841892_60841894dup | CA1114429822 | CHD7 | c.4690_4692dup (p.Leu1564_Tyr1565insLeu) c.1717-20337_1717-20335dup (n.1717-20337_1717-20335dup) c.2677_2679dup (p.Leu893_Tyr894insLeu) c.2227_2229dup (p.Leu743_Tyr744insLeu) c.1435_1437dup (p.Leu479_Tyr480insLeu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841893T>A | CA371319047 | CHD7 | c.4691T>A (p.Leu1564His) c.1717-20336T>A (n.1717-20336T>A) c.2678T>A (p.Leu893His) c.2228T>A (p.Leu743His) c.1436T>A (p.Leu479His) | |
| 8 | g.60841893T>C | CA371319048 | CHD7 | c.4691T>C (p.Leu1564Pro) c.1717-20336T>C (n.1717-20336T>C) c.2678T>C (p.Leu893Pro) c.2228T>C (p.Leu743Pro) c.1436T>C (p.Leu479Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841893T>G | CA371319050 | CHD7 | c.4691T>G (p.Leu1564Arg) c.1717-20336T>G (n.1717-20336T>G) c.2678T>G (p.Leu893Arg) c.2228T>G (p.Leu743Arg) c.1436T>G (p.Leu479Arg) | |
| 8 | g.60841893T= | CA1788122899 | CHD7 | c.4691T= (p.Leu1564=) c.1717-20336T= (n.1717-20336T=) c.2678T= (p.Leu893=) c.2228T= (p.Leu743=) c.1436T= (p.Leu479=) | |
| 8 | g.60841894C>A | CA460848156 | CHD7 | c.4692C>A (p.Leu1564=) c.1717-20335C>A (n.1717-20335C>A) c.2679C>A (p.Leu893=) c.2229C>A (p.Leu743=) c.1437C>A (p.Leu479=) | |
| 8 | g.60841894C= | CA1788122903 | CHD7 | c.4692C= (p.Leu1564=) c.1717-20335C= (n.1717-20335C=) c.2679C= (p.Leu893=) c.2229C= (p.Leu743=) c.1437C= (p.Leu479=) | |
| 8 | g.60841894C>G | CA4760180 | CHD7 | c.4692C>G (p.Leu1564=) c.1717-20335C>G (n.1717-20335C>G) c.2679C>G (p.Leu893=) c.2229C>G (p.Leu743=) c.1437C>G (p.Leu479=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841894C>T | CA460848154 | CHD7 | c.4692C>T (p.Leu1564=) c.1717-20335C>T (n.1717-20335C>T) c.2679C>T (p.Leu893=) c.2229C>T (p.Leu743=) c.1437C>T (p.Leu479=) | gnomAD v4 |
| 8 | g.60841895T>A | CA371319051 | CHD7 | c.4693T>A (p.Tyr1565Asn) c.1717-20334T>A (n.1717-20334T>A) c.2680T>A (p.Tyr894Asn) c.2230T>A (p.Tyr744Asn) c.1438T>A (p.Tyr480Asn) | |
| 8 | g.60841895T>C | CA371319052 | CHD7 | c.4693T>C (p.Tyr1565His) c.1717-20334T>C (n.1717-20334T>C) c.2680T>C (p.Tyr894His) c.2230T>C (p.Tyr744His) c.1438T>C (p.Tyr480His) | gnomAD v4 |
| 8 | g.60841895T>G | CA371319054 | CHD7 | c.4693T>G (p.Tyr1565Asp) c.1717-20334T>G (n.1717-20334T>G) c.2680T>G (p.Tyr894Asp) c.2230T>G (p.Tyr744Asp) c.1438T>G (p.Tyr480Asp) | |
| 8 | g.60841896A>C | CA371319056 | CHD7 | c.4694A>C (p.Tyr1565Ser) c.1717-20333A>C (n.1717-20333A>C) c.2681A>C (p.Tyr894Ser) c.2231A>C (p.Tyr744Ser) c.1439A>C (p.Tyr480Ser) | |
| 8 | g.60841896A>G | CA371319057 | CHD7 | c.4694A>G (p.Tyr1565Cys) c.1717-20333A>G (n.1717-20333A>G) c.2681A>G (p.Tyr894Cys) c.2231A>G (p.Tyr744Cys) c.1439A>G (p.Tyr480Cys) | |
| 8 | g.60841896A>T | CA371319059 | CHD7 | c.4694A>T (p.Tyr1565Phe) c.1717-20333A>T (n.1717-20333A>T) c.2681A>T (p.Tyr894Phe) c.2231A>T (p.Tyr744Phe) c.1439A>T (p.Tyr480Phe) | |
| 8 | g.60841897C>A | CA371319060 | CHD7 | c.4695C>A (p.Tyr1565Ter) c.1717-20332C>A (n.1717-20332C>A) c.2682C>A (p.Tyr894Ter) c.2232C>A (p.Tyr744Ter) c.1440C>A (p.Tyr480Ter) | |
| 8 | g.60841897C>G | CA371319062 | CHD7 | c.4695C>G (p.Tyr1565Ter) c.1717-20332C>G (n.1717-20332C>G) c.2682C>G (p.Tyr894Ter) c.2232C>G (p.Tyr744Ter) c.1440C>G (p.Tyr480Ter) | |
| 8 | g.60841897C>T | CA460848157 | CHD7 | c.4695C>T (p.Tyr1565=) c.1717-20332C>T (n.1717-20332C>T) c.2682C>T (p.Tyr894=) c.2232C>T (p.Tyr744=) c.1440C>T (p.Tyr480=) | |
| 8 | g.60841898A>C | CA371319065 | CHD7 | c.4696A>C (p.Ser1566Arg) c.1717-20331A>C (n.1717-20331A>C) c.2683A>C (p.Ser895Arg) c.2233A>C (p.Ser745Arg) c.1441A>C (p.Ser481Arg) | |
| 8 | g.60841898A>G | CA371319066 | CHD7 | c.4696A>G (p.Ser1566Gly) c.1717-20331A>G (n.1717-20331A>G) c.2683A>G (p.Ser895Gly) c.2233A>G (p.Ser745Gly) c.1441A>G (p.Ser481Gly) | |
| 8 | g.60841898A>T | CA371319064 | CHD7 | c.4696A>T (p.Ser1566Cys) c.1717-20331A>T (n.1717-20331A>T) c.2683A>T (p.Ser895Cys) c.2233A>T (p.Ser745Cys) c.1441A>T (p.Ser481Cys) | |
| 8 | g.60841899G>A | CA371319068 | CHD7 | c.4697G>A (p.Ser1566Asn) c.1717-20330G>A (n.1717-20330G>A) c.2684G>A (p.Ser895Asn) c.2234G>A (p.Ser745Asn) c.1442G>A (p.Ser481Asn) | dbSNP gnomAD v2 |
| 8 | g.60841899G>C | CA371319071 | CHD7 | c.4697G>C (p.Ser1566Thr) c.1717-20330G>C (n.1717-20330G>C) c.2684G>C (p.Ser895Thr) c.2234G>C (p.Ser745Thr) c.1442G>C (p.Ser481Thr) | |
| 8 | g.60841899G= | CA1788122910 | CHD7 | c.4697G= (p.Ser1566=) c.1717-20330G= (n.1717-20330G=) c.2684G= (p.Ser895=) c.2234G= (p.Ser745=) c.1442G= (p.Ser481=) | |
| 8 | g.60841899G>T | CA371319070 | CHD7 | c.4697G>T (p.Ser1566Ile) c.1717-20330G>T (n.1717-20330G>T) c.2684G>T (p.Ser895Ile) c.2234G>T (p.Ser745Ile) c.1442G>T (p.Ser481Ile) | |
| 8 | g.60841900T>A | CA371319073 | CHD7 | c.4698T>A (p.Ser1566Arg) c.1717-20329T>A (n.1717-20329T>A) c.2685T>A (p.Ser895Arg) c.2235T>A (p.Ser745Arg) c.1443T>A (p.Ser481Arg) | |
| 8 | g.60841900T>C | CA177349986 | CHD7 | c.4698T>C (p.Ser1566=) c.1717-20329T>C (n.1717-20329T>C) c.2685T>C (p.Ser895=) c.2235T>C (p.Ser745=) c.1443T>C (p.Ser481=) | dbSNP gnomAD v4 |
| 8 | g.60841900T>G | CA4760181 | CHD7 | c.4698T>G (p.Ser1566Arg) c.1717-20329T>G (n.1717-20329T>G) c.2685T>G (p.Ser895Arg) c.2235T>G (p.Ser745Arg) c.1443T>G (p.Ser481Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841900T= | CA1788122913 | CHD7 | c.4698T= (p.Ser1566=) c.1717-20329T= (n.1717-20329T=) c.2685T= (p.Ser895=) c.2235T= (p.Ser745=) c.1443T= (p.Ser481=) | |
| 8 | g.60841901G>A | CA371319074 | CHD7 | c.4699G>A (p.Ala1567Thr) c.1717-20328G>A (n.1717-20328G>A) c.2686G>A (p.Ala896Thr) c.2236G>A (p.Ala746Thr) c.1444G>A (p.Ala482Thr) | |
| 8 | g.60841901G>C | CA371319076 | CHD7 | c.4699G>C (p.Ala1567Pro) c.1717-20328G>C (n.1717-20328G>C) c.2686G>C (p.Ala896Pro) c.2236G>C (p.Ala746Pro) c.1444G>C (p.Ala482Pro) | |
| 8 | g.60841901G>T | CA371319078 | CHD7 | c.4699G>T (p.Ala1567Ser) c.1717-20328G>T (n.1717-20328G>T) c.2686G>T (p.Ala896Ser) c.2236G>T (p.Ala746Ser) c.1444G>T (p.Ala482Ser) | |
| 8 | g.60841902C>A | CA371319079 | CHD7 | c.4700C>A (p.Ala1567Glu) c.1717-20327C>A (n.1717-20327C>A) c.2687C>A (p.Ala896Glu) c.2237C>A (p.Ala746Glu) c.1445C>A (p.Ala482Glu) | dbSNP gnomAD v2 |
| 8 | g.60841902C= | CA1788122921 | CHD7 | c.4700C= (p.Ala1567=) c.1717-20327C= (n.1717-20327C=) c.2687C= (p.Ala896=) c.2237C= (p.Ala746=) c.1445C= (p.Ala482=) | |
| 8 | g.60841902C>G | CA371319080 | CHD7 | c.4700C>G (p.Ala1567Gly) c.1717-20327C>G (n.1717-20327C>G) c.2687C>G (p.Ala896Gly) c.2237C>G (p.Ala746Gly) c.1445C>G (p.Ala482Gly) | |
| 8 | g.60841902C>T | CA371319081 | CHD7 | c.4700C>T (p.Ala1567Val) c.1717-20327C>T (n.1717-20327C>T) c.2687C>T (p.Ala896Val) c.2237C>T (p.Ala746Val) c.1445C>T (p.Ala482Val) | |
| 8 | g.60841903A= | CA1788122939 | CHD7 | c.4701A= (p.Ala1567=) c.1717-20326A= (n.1717-20326A=) c.2688A= (p.Ala896=) c.2238A= (p.Ala746=) c.1446A= (p.Ala482=) | |
| 8 | g.60841903A>C | CA460848161 | CHD7 | c.4701A>C (p.Ala1567=) c.1717-20326A>C (n.1717-20326A>C) c.2688A>C (p.Ala896=) c.2238A>C (p.Ala746=) c.1446A>C (p.Ala482=) | |
| 8 | g.60841903A>G | CA460848162 | CHD7 | c.4701A>G (p.Ala1567=) c.1717-20326A>G (n.1717-20326A>G) c.2688A>G (p.Ala896=) c.2238A>G (p.Ala746=) c.1446A>G (p.Ala482=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841903A>T | CA460848163 | CHD7 | c.4701A>T (p.Ala1567=) c.1717-20326A>T (n.1717-20326A>T) c.2688A>T (p.Ala896=) c.2238A>T (p.Ala746=) c.1446A>T (p.Ala482=) | |
| 8 | g.60841904del | CA2825001591 | CHD7 | c.4702del (p.Val1568Ter) c.1717-20325del (n.1717-20325del) c.2689del (p.Val897Ter) c.2239del (p.Val747Ter) c.1447del (p.Val483Ter) | ClinVar |
| 8 | g.60841904G>A | CA371319083 | CHD7 | c.4702G>A (p.Val1568Met) c.1717-20325G>A (n.1717-20325G>A) c.2689G>A (p.Val897Met) c.2239G>A (p.Val747Met) c.1447G>A (p.Val483Met) | |
| 8 | g.60841904G>C | CA371319084 | CHD7 | c.4702G>C (p.Val1568Leu) c.1717-20325G>C (n.1717-20325G>C) c.2689G>C (p.Val897Leu) c.2239G>C (p.Val747Leu) c.1447G>C (p.Val483Leu) | |
| 8 | g.60841904G>T | CA371319085 | CHD7 | c.4702G>T (p.Val1568Leu) c.1717-20325G>T (n.1717-20325G>T) c.2689G>T (p.Val897Leu) c.2239G>T (p.Val747Leu) c.1447G>T (p.Val483Leu) | gnomAD v4 |
| 8 | g.60841905T>A | CA371319089 | CHD7 | c.4703T>A (p.Val1568Glu) c.1717-20324T>A (n.1717-20324T>A) c.2690T>A (p.Val897Glu) c.2240T>A (p.Val747Glu) c.1448T>A (p.Val483Glu) | |
| 8 | g.60841905T>C | CA371319087 | CHD7 | c.4703T>C (p.Val1568Ala) c.1717-20324T>C (n.1717-20324T>C) c.2690T>C (p.Val897Ala) c.2240T>C (p.Val747Ala) c.1448T>C (p.Val483Ala) | |
| 8 | g.60841905T>G | CA371319088 | CHD7 | c.4703T>G (p.Val1568Gly) c.1717-20324T>G (n.1717-20324T>G) c.2690T>G (p.Val897Gly) c.2240T>G (p.Val747Gly) c.1448T>G (p.Val483Gly) | |
| 8 | g.60841906G>A | CA460848165 | CHD7 | c.4704G>A (p.Val1568=) c.1717-20323G>A (n.1717-20323G>A) c.2691G>A (p.Val897=) c.2241G>A (p.Val747=) c.1449G>A (p.Val483=) | gnomAD v4 |
| 8 | g.60841906G>C | CA460848166 | CHD7 | c.4704G>C (p.Val1568=) c.1717-20323G>C (n.1717-20323G>C) c.2691G>C (p.Val897=) c.2241G>C (p.Val747=) c.1449G>C (p.Val483=) | |
| 8 | g.60841906G>T | CA460848167 | CHD7 | c.4704G>T (p.Val1568=) c.1717-20323G>T (n.1717-20323G>T) c.2691G>T (p.Val897=) c.2241G>T (p.Val747=) c.1449G>T (p.Val483=) | |
| 8 | g.60841907A= | CA1788122942 | CHD7 | c.4705A= (p.Lys1569=) c.1717-20322A= (n.1717-20322A=) c.2692A= (p.Lys898=) c.2242A= (p.Lys748=) c.1450A= (p.Lys484=) | |
| 8 | g.60841907A>C | CA371319091 | CHD7 | c.4705A>C (p.Lys1569Gln) c.1717-20322A>C (n.1717-20322A>C) c.2692A>C (p.Lys898Gln) c.2242A>C (p.Lys748Gln) c.1450A>C (p.Lys484Gln) | |
| 8 | g.60841907A>G | CA371319093 | CHD7 | c.4705A>G (p.Lys1569Glu) c.1717-20322A>G (n.1717-20322A>G) c.2692A>G (p.Lys898Glu) c.2242A>G (p.Lys748Glu) c.1450A>G (p.Lys484Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841907A>T | CA371319094 | CHD7 | c.4705A>T (p.Lys1569Ter) c.1717-20322A>T (n.1717-20322A>T) c.2692A>T (p.Lys898Ter) c.2242A>T (p.Lys748Ter) c.1450A>T (p.Lys484Ter) | |
| 8 | g.60841908A>C | CA371319095 | CHD7 | c.4706A>C (p.Lys1569Thr) c.1717-20321A>C (n.1717-20321A>C) c.2693A>C (p.Lys898Thr) c.2243A>C (p.Lys748Thr) c.1451A>C (p.Lys484Thr) | |
| 8 | g.60841908A>G | CA371319096 | CHD7 | c.4706A>G (p.Lys1569Arg) c.1717-20321A>G (n.1717-20321A>G) c.2693A>G (p.Lys898Arg) c.2243A>G (p.Lys748Arg) c.1451A>G (p.Lys484Arg) | |
| 8 | g.60841908A>T | CA371319098 | CHD7 | c.4706A>T (p.Lys1569Met) c.1717-20321A>T (n.1717-20321A>T) c.2693A>T (p.Lys898Met) c.2243A>T (p.Lys748Met) c.1451A>T (p.Lys484Met) | |
| 8 | g.60841909G>A | CA460848171 | CHD7 | c.4707G>A (p.Lys1569=) c.1717-20320G>A (n.1717-20320G>A) c.2694G>A (p.Lys898=) c.2244G>A (p.Lys748=) c.1452G>A (p.Lys484=) | ClinVar |
| 8 | g.60841909G>C | CA371319102 | CHD7 | c.4707G>C (p.Lys1569Asn) c.1717-20320G>C (n.1717-20320G>C) c.2694G>C (p.Lys898Asn) c.2244G>C (p.Lys748Asn) c.1452G>C (p.Lys484Asn) | gnomAD v4 |
| 8 | g.60841909G>T | CA371319105 | CHD7 | c.4707G>T (p.Lys1569Asn) c.1717-20320G>T (n.1717-20320G>T) c.2694G>T (p.Lys898Asn) c.2244G>T (p.Lys748Asn) c.1452G>T (p.Lys484Asn) | |
| 8 | g.60841910G>A | CA4760182 | CHD7 | c.4708G>A (p.Glu1570Lys) c.1717-20319G>A (n.1717-20319G>A) c.2695G>A (p.Glu899Lys) c.2245G>A (p.Glu749Lys) c.1453G>A (p.Glu485Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841910G>C | CA371319109 | CHD7 | c.4708G>C (p.Glu1570Gln) c.1717-20319G>C (n.1717-20319G>C) c.2695G>C (p.Glu899Gln) c.2245G>C (p.Glu749Gln) c.1453G>C (p.Glu485Gln) | |
| 8 | g.60841910G= | CA1788122946 | CHD7 | c.4708G= (p.Glu1570=) c.1717-20319G= (n.1717-20319G=) c.2695G= (p.Glu899=) c.2245G= (p.Glu749=) c.1453G= (p.Glu485=) | |
| 8 | g.60841910G>T | CA371319110 | CHD7 | c.4708G>T (p.Glu1570Ter) c.1717-20319G>T (n.1717-20319G>T) c.2695G>T (p.Glu899Ter) c.2245G>T (p.Glu749Ter) c.1453G>T (p.Glu485Ter) | |
| 8 | g.60841911A>C | CA371319114 | CHD7 | c.4709A>C (p.Glu1570Ala) c.1717-20318A>C (n.1717-20318A>C) c.2696A>C (p.Glu899Ala) c.2246A>C (p.Glu749Ala) c.1454A>C (p.Glu485Ala) | |
| 8 | g.60841911A>G | CA371319115 | CHD7 | c.4709A>G (p.Glu1570Gly) c.1717-20318A>G (n.1717-20318A>G) c.2696A>G (p.Glu899Gly) c.2246A>G (p.Glu749Gly) c.1454A>G (p.Glu485Gly) | |
| 8 | g.60841911A>T | CA371319113 | CHD7 | c.4709A>T (p.Glu1570Val) c.1717-20318A>T (n.1717-20318A>T) c.2696A>T (p.Glu899Val) c.2246A>T (p.Glu749Val) c.1454A>T (p.Glu485Val) | |
| 8 | g.60841912A= | CA1788122948 | CHD7 | c.4710A= (p.Glu1570=) c.1717-20317A= (n.1717-20317A=) c.2697A= (p.Glu899=) c.2247A= (p.Glu749=) c.1455A= (p.Glu485=) | |
| 8 | g.60841912A>C | CA371319118 | CHD7 | c.4710A>C (p.Glu1570Asp) c.1717-20317A>C (n.1717-20317A>C) c.2697A>C (p.Glu899Asp) c.2247A>C (p.Glu749Asp) c.1455A>C (p.Glu485Asp) | |
| 8 | g.60841912A>G | CA460848173 | CHD7 | c.4710A>G (p.Glu1570=) c.1717-20317A>G (n.1717-20317A>G) c.2697A>G (p.Glu899=) c.2247A>G (p.Glu749=) c.1455A>G (p.Glu485=) | dbSNP |
| 8 | g.60841912A>T | CA371319120 | CHD7 | c.4710A>T (p.Glu1570Asp) c.1717-20317A>T (n.1717-20317A>T) c.2697A>T (p.Glu899Asp) c.2247A>T (p.Glu749Asp) c.1455A>T (p.Glu485Asp) | |
| 8 | g.60841913G>A | CA371319123 | CHD7 | c.4711G>A (p.Asp1571Asn) c.1717-20316G>A (n.1717-20316G>A) c.2698G>A (p.Asp900Asn) c.2248G>A (p.Asp750Asn) c.1456G>A (p.Asp486Asn) | gnomAD v4 |
| 8 | g.60841913G>C | CA371319124 | CHD7 | c.4711G>C (p.Asp1571His) c.1717-20316G>C (n.1717-20316G>C) c.2698G>C (p.Asp900His) c.2248G>C (p.Asp750His) c.1456G>C (p.Asp486His) | |
| 8 | g.60841913G>T | CA371319125 | CHD7 | c.4711G>T (p.Asp1571Tyr) c.1717-20316G>T (n.1717-20316G>T) c.2698G>T (p.Asp900Tyr) c.2248G>T (p.Asp750Tyr) c.1456G>T (p.Asp486Tyr) | |
| 8 | g.60841914A>C | CA371319127 | CHD7 | c.4712A>C (p.Asp1571Ala) c.1717-20315A>C (n.1717-20315A>C) c.2699A>C (p.Asp900Ala) c.2249A>C (p.Asp750Ala) c.1457A>C (p.Asp486Ala) | |
| 8 | g.60841914A>G | CA371319129 | CHD7 | c.4712A>G (p.Asp1571Gly) c.1717-20315A>G (n.1717-20315A>G) c.2699A>G (p.Asp900Gly) c.2249A>G (p.Asp750Gly) c.1457A>G (p.Asp486Gly) | |
| 8 | g.60841914A>T | CA371319132 | CHD7 | c.4712A>T (p.Asp1571Val) c.1717-20315A>T (n.1717-20315A>T) c.2699A>T (p.Asp900Val) c.2249A>T (p.Asp750Val) c.1457A>T (p.Asp486Val) | |
| 8 | g.60841915T>A | CA371319134 | CHD7 | c.4713T>A (p.Asp1571Glu) c.1717-20314T>A (n.1717-20314T>A) c.2700T>A (p.Asp900Glu) c.2250T>A (p.Asp750Glu) c.1458T>A (p.Asp486Glu) | |
| 8 | g.60841915T>C | CA460848174 | CHD7 | c.4713T>C (p.Asp1571=) c.1717-20314T>C (n.1717-20314T>C) c.2700T>C (p.Asp900=) c.2250T>C (p.Asp750=) c.1458T>C (p.Asp486=) | gnomAD v4 |
| 8 | g.60841915T>G | CA371319135 | CHD7 | c.4713T>G (p.Asp1571Glu) c.1717-20314T>G (n.1717-20314T>G) c.2700T>G (p.Asp900Glu) c.2250T>G (p.Asp750Glu) c.1458T>G (p.Asp486Glu) | |
| 8 | g.60841916G>A | CA371319138 | CHD7 | c.4714G>A (p.Glu1572Lys) c.1717-20313G>A (n.1717-20313G>A) c.2701G>A (p.Glu901Lys) c.2251G>A (p.Glu751Lys) c.1459G>A (p.Glu487Lys) | dbSNP gnomAD v2 |
| 8 | g.60841916G>C | CA371319140 | CHD7 | c.4714G>C (p.Glu1572Gln) c.1717-20313G>C (n.1717-20313G>C) c.2701G>C (p.Glu901Gln) c.2251G>C (p.Glu751Gln) c.1459G>C (p.Glu487Gln) | |
| 8 | g.60841916G= | CA1788122954 | CHD7 | c.4714G= (p.Glu1572=) c.1717-20313G= (n.1717-20313G=) c.2701G= (p.Glu901=) c.2251G= (p.Glu751=) c.1459G= (p.Glu487=) | |
| 8 | g.60841916G>T | CA371319142 | CHD7 | c.4714G>T (p.Glu1572Ter) c.1717-20313G>T (n.1717-20313G>T) c.2701G>T (p.Glu901Ter) c.2251G>T (p.Glu751Ter) c.1459G>T (p.Glu487Ter) | gnomAD v4 |
| 8 | g.60841917A>C | CA371319147 | CHD7 | c.4715A>C (p.Glu1572Ala) c.1717-20312A>C (n.1717-20312A>C) c.2702A>C (p.Glu901Ala) c.2252A>C (p.Glu751Ala) c.1460A>C (p.Glu487Ala) | |
| 8 | g.60841917A>G | CA371319145 | CHD7 | c.4715A>G (p.Glu1572Gly) c.1717-20312A>G (n.1717-20312A>G) c.2702A>G (p.Glu901Gly) c.2252A>G (p.Glu751Gly) c.1460A>G (p.Glu487Gly) | |
| 8 | g.60841917A>T | CA371319143 | CHD7 | c.4715A>T (p.Glu1572Val) c.1717-20312A>T (n.1717-20312A>T) c.2702A>T (p.Glu901Val) c.2252A>T (p.Glu751Val) c.1460A>T (p.Glu487Val) | |
| 8 | g.60841918G>A | CA460848183 | CHD7 | c.4716G>A (p.Glu1572=) c.1717-20311G>A (n.1717-20311G>A) c.2703G>A (p.Glu901=) c.2253G>A (p.Glu751=) c.1461G>A (p.Glu487=) | |
| 8 | g.60841918G>C | CA371319149 | CHD7 | c.4716G>C (p.Glu1572Asp) c.1717-20311G>C (n.1717-20311G>C) c.2703G>C (p.Glu901Asp) c.2253G>C (p.Glu751Asp) c.1461G>C (p.Glu487Asp) | |
| 8 | g.60841918G>T | CA371319151 | CHD7 | c.4716G>T (p.Glu1572Asp) c.1717-20311G>T (n.1717-20311G>T) c.2703G>T (p.Glu901Asp) c.2253G>T (p.Glu751Asp) c.1461G>T (p.Glu487Asp) | |
| 8 | g.60841919C>A | CA371319153 | CHD7 | c.4717C>A (p.Leu1573Met) c.1717-20310C>A (n.1717-20310C>A) c.2704C>A (p.Leu902Met) c.2254C>A (p.Leu752Met) c.1462C>A (p.Leu488Met) | |
| 8 | g.60841919C= | CA1788122965 | CHD7 | c.4717C= (p.Leu1573=) c.1717-20310C= (n.1717-20310C=) c.2704C= (p.Leu902=) c.2254C= (p.Leu752=) c.1462C= (p.Leu488=) | |
| 8 | g.60841919C>G | CA4760183 | CHD7 | c.4717C>G (p.Leu1573Val) c.1717-20310C>G (n.1717-20310C>G) c.2704C>G (p.Leu902Val) c.2254C>G (p.Leu752Val) c.1462C>G (p.Leu488Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841919C>T | CA460848184 | CHD7 | c.4717C>T (p.Leu1573=) c.1717-20310C>T (n.1717-20310C>T) c.2704C>T (p.Leu902=) c.2254C>T (p.Leu752=) c.1462C>T (p.Leu488=) | gnomAD v4 |
| 8 | g.60841920T>A | CA371319156 | CHD7 | c.4718T>A (p.Leu1573Gln) c.1717-20309T>A (n.1717-20309T>A) c.2705T>A (p.Leu902Gln) c.2255T>A (p.Leu752Gln) c.1463T>A (p.Leu488Gln) | |
| 8 | g.60841920T>C | CA371319157 | CHD7 | c.4718T>C (p.Leu1573Pro) c.1717-20309T>C (n.1717-20309T>C) c.2705T>C (p.Leu902Pro) c.2255T>C (p.Leu752Pro) c.1463T>C (p.Leu488Pro) | |
| 8 | g.60841920T>G | CA371319160 | CHD7 | c.4718T>G (p.Leu1573Arg) c.1717-20309T>G (n.1717-20309T>G) c.2705T>G (p.Leu902Arg) c.2255T>G (p.Leu752Arg) c.1463T>G (p.Leu488Arg) | |
| 8 | g.60841921G>A | CA460848185 | CHD7 | c.4719G>A (p.Leu1573=) c.1717-20308G>A (n.1717-20308G>A) c.2706G>A (p.Leu902=) c.2256G>A (p.Leu752=) c.1464G>A (p.Leu488=) | |
| 8 | g.60841921G>C | CA460848186 | CHD7 | c.4719G>C (p.Leu1573=) c.1717-20308G>C (n.1717-20308G>C) c.2706G>C (p.Leu902=) c.2256G>C (p.Leu752=) c.1464G>C (p.Leu488=) | |
| 8 | g.60841921G>T | CA460848187 | CHD7 | c.4719G>T (p.Leu1573=) c.1717-20308G>T (n.1717-20308G>T) c.2706G>T (p.Leu902=) c.2256G>T (p.Leu752=) c.1464G>T (p.Leu488=) | |
| 8 | g.60841922A= | CA1788122976 | CHD7 | c.4720A= (p.Met1574=) c.1717-20307A= (n.1717-20307A=) c.2707A= (p.Met903=) c.2257A= (p.Met753=) c.1465A= (p.Met489=) | |
| 8 | g.60841922A>C | CA371319162 | CHD7 | c.4720A>C (p.Met1574Leu) c.1717-20307A>C (n.1717-20307A>C) c.2707A>C (p.Met903Leu) c.2257A>C (p.Met753Leu) c.1465A>C (p.Met489Leu) | |
| 8 | g.60841922A>G | CA371319164 | CHD7 | c.4720A>G (p.Met1574Val) c.1717-20307A>G (n.1717-20307A>G) c.2707A>G (p.Met903Val) c.2257A>G (p.Met753Val) c.1465A>G (p.Met489Val) | |
| 8 | g.60841922A>T | CA177349994 | CHD7 | c.4720A>T (p.Met1574Leu) c.1717-20307A>T (n.1717-20307A>T) c.2707A>T (p.Met903Leu) c.2257A>T (p.Met753Leu) c.1465A>T (p.Met489Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841923T>A | CA371319166 | CHD7 | c.4721T>A (p.Met1574Lys) c.1717-20306T>A (n.1717-20306T>A) c.2708T>A (p.Met903Lys) c.2258T>A (p.Met753Lys) c.1466T>A (p.Met489Lys) | |
| 8 | g.60841923T>C | CA371319167 | CHD7 | c.4721T>C (p.Met1574Thr) c.1717-20306T>C (n.1717-20306T>C) c.2708T>C (p.Met903Thr) c.2258T>C (p.Met753Thr) c.1466T>C (p.Met489Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841923T>G | CA371319170 | CHD7 | c.4721T>G (p.Met1574Arg) c.1717-20306T>G (n.1717-20306T>G) c.2708T>G (p.Met903Arg) c.2258T>G (p.Met753Arg) c.1466T>G (p.Met489Arg) | |
| 8 | g.60841923T= | CA1788122983 | CHD7 | c.4721T= (p.Met1574=) c.1717-20306T= (n.1717-20306T=) c.2708T= (p.Met903=) c.2258T= (p.Met753=) c.1466T= (p.Met489=) | |
| 8 | g.60841924G>A | CA371319176 | CHD7 | c.4722G>A (p.Met1574Ile) c.1717-20305G>A (n.1717-20305G>A) c.2709G>A (p.Met903Ile) c.2259G>A (p.Met753Ile) c.1467G>A (p.Met489Ile) | |
| 8 | g.60841924G>C | CA371319173 | CHD7 | c.4722G>C (p.Met1574Ile) c.1717-20305G>C (n.1717-20305G>C) c.2709G>C (p.Met903Ile) c.2259G>C (p.Met753Ile) c.1467G>C (p.Met489Ile) | |
| 8 | g.60841924G>T | CA371319172 | CHD7 | c.4722G>T (p.Met1574Ile) c.1717-20305G>T (n.1717-20305G>T) c.2709G>T (p.Met903Ile) c.2259G>T (p.Met753Ile) c.1467G>T (p.Met489Ile) | |
| 8 | g.60841925dup | CA2695209736 | CHD7 | c.4723dup (p.Glu1575GlyfsTer8) c.1717-20304dup (n.1717-20304dup) c.2710dup (p.Glu904GlyfsTer8) c.2260dup (p.Glu754GlyfsTer8) c.1468dup (p.Glu490GlyfsTer8) | |
| 8 | g.60841925G>A | CA371319179 | CHD7 | c.4723G>A (p.Glu1575Lys) c.1717-20304G>A (n.1717-20304G>A) c.2710G>A (p.Glu904Lys) c.2260G>A (p.Glu754Lys) c.1468G>A (p.Glu490Lys) | |
| 8 | g.60841925G>C | CA371319178 | CHD7 | c.4723G>C (p.Glu1575Gln) c.1717-20304G>C (n.1717-20304G>C) c.2710G>C (p.Glu904Gln) c.2260G>C (p.Glu754Gln) c.1468G>C (p.Glu490Gln) | |
| 8 | g.60841925G>T | CA371319181 | CHD7 | c.4723G>T (p.Glu1575Ter) c.1717-20304G>T (n.1717-20304G>T) c.2710G>T (p.Glu904Ter) c.2260G>T (p.Glu754Ter) c.1468G>T (p.Glu490Ter) | |
| 8 | g.60841926A= | CA1788122990 | CHD7 | c.4724A= (p.Glu1575=) c.1717-20303A= (n.1717-20303A=) c.2711A= (p.Glu904=) c.2261A= (p.Glu754=) c.1469A= (p.Glu490=) | |
| 8 | g.60841926A>C | CA371319183 | CHD7 | c.4724A>C (p.Glu1575Ala) c.1717-20303A>C (n.1717-20303A>C) c.2711A>C (p.Glu904Ala) c.2261A>C (p.Glu754Ala) c.1469A>C (p.Glu490Ala) | |
| 8 | g.60841926A>G | CA371319187 | CHD7 | c.4724A>G (p.Glu1575Gly) c.1717-20303A>G (n.1717-20303A>G) c.2711A>G (p.Glu904Gly) c.2261A>G (p.Glu754Gly) c.1469A>G (p.Glu490Gly) | dbSNP gnomAD v4 |
| 8 | g.60841926A>T | CA371319185 | CHD7 | c.4724A>T (p.Glu1575Val) c.1717-20303A>T (n.1717-20303A>T) c.2711A>T (p.Glu904Val) c.2261A>T (p.Glu754Val) c.1469A>T (p.Glu490Val) | |
| 8 | g.60841927G>A | CA460848188 | CHD7 | c.4725G>A (p.Glu1575=) c.1717-20302G>A (n.1717-20302G>A) c.2712G>A (p.Glu904=) c.2262G>A (p.Glu754=) c.1470G>A (p.Glu490=) | |
| 8 | g.60841927G>C | CA371319189 | CHD7 | c.4725G>C (p.Glu1575Asp) c.1717-20302G>C (n.1717-20302G>C) c.2712G>C (p.Glu904Asp) c.2262G>C (p.Glu754Asp) c.1470G>C (p.Glu490Asp) | |
| 8 | g.60841927G>T | CA371319191 | CHD7 | c.4725G>T (p.Glu1575Asp) c.1717-20302G>T (n.1717-20302G>T) c.2712G>T (p.Glu904Asp) c.2262G>T (p.Glu754Asp) c.1470G>T (p.Glu490Asp) | |
| 8 | g.60841928T>A | CA371319192 | CHD7 | c.4726T>A (p.Phe1576Ile) c.1717-20301T>A (n.1717-20301T>A) c.2713T>A (p.Phe905Ile) c.2263T>A (p.Phe755Ile) c.1471T>A (p.Phe491Ile) | |
| 8 | g.60841928T>C | CA371319194 | CHD7 | c.4726T>C (p.Phe1576Leu) c.1717-20301T>C (n.1717-20301T>C) c.2713T>C (p.Phe905Leu) c.2263T>C (p.Phe755Leu) c.1471T>C (p.Phe491Leu) | |
| 8 | g.60841928T>G | CA371319196 | CHD7 | c.4726T>G (p.Phe1576Val) c.1717-20301T>G (n.1717-20301T>G) c.2713T>G (p.Phe905Val) c.2263T>G (p.Phe755Val) c.1471T>G (p.Phe491Val) | |
| 8 | g.60841929T>A | CA371319198 | CHD7 | c.4727T>A (p.Phe1576Tyr) c.1717-20300T>A (n.1717-20300T>A) c.2714T>A (p.Phe905Tyr) c.2264T>A (p.Phe755Tyr) c.1472T>A (p.Phe491Tyr) | |
| 8 | g.60841929T>C | CA371319199 | CHD7 | c.4727T>C (p.Phe1576Ser) c.1717-20300T>C (n.1717-20300T>C) c.2714T>C (p.Phe905Ser) c.2264T>C (p.Phe755Ser) c.1472T>C (p.Phe491Ser) | |
| 8 | g.60841929T>G | CA371319201 | CHD7 | c.4727T>G (p.Phe1576Cys) c.1717-20300T>G (n.1717-20300T>G) c.2714T>G (p.Phe905Cys) c.2264T>G (p.Phe755Cys) c.1472T>G (p.Phe491Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841929T= | CA1788122997 | CHD7 | c.4727T= (p.Phe1576=) c.1717-20300T= (n.1717-20300T=) c.2714T= (p.Phe905=) c.2264T= (p.Phe755=) c.1472T= (p.Phe491=) | |
| 8 | g.60841930C>A | CA371319202 | CHD7 | c.4728C>A (p.Phe1576Leu) c.1717-20299C>A (n.1717-20299C>A) c.2715C>A (p.Phe905Leu) c.2265C>A (p.Phe755Leu) c.1473C>A (p.Phe491Leu) | |
| 8 | g.60841930C>G | CA371319205 | CHD7 | c.4728C>G (p.Phe1576Leu) c.1717-20299C>G (n.1717-20299C>G) c.2715C>G (p.Phe905Leu) c.2265C>G (p.Phe755Leu) c.1473C>G (p.Phe491Leu) | |
| 8 | g.60841930C>T | CA460848189 | CHD7 | c.4728C>T (p.Phe1576=) c.1717-20299C>T (n.1717-20299C>T) c.2715C>T (p.Phe905=) c.2265C>T (p.Phe755=) c.1473C>T (p.Phe491=) | |
| 8 | g.60841931T>A | CA371319207 | CHD7 | c.4729T>A (p.Ser1577Thr) c.1717-20298T>A (n.1717-20298T>A) c.2716T>A (p.Ser906Thr) c.2266T>A (p.Ser756Thr) c.1474T>A (p.Ser492Thr) | |
| 8 | g.60841931T>C | CA371319209 | CHD7 | c.4729T>C (p.Ser1577Pro) c.1717-20298T>C (n.1717-20298T>C) c.2716T>C (p.Ser906Pro) c.2266T>C (p.Ser756Pro) c.1474T>C (p.Ser492Pro) | |
| 8 | g.60841931T>G | CA371319211 | CHD7 | c.4729T>G (p.Ser1577Ala) c.1717-20298T>G (n.1717-20298T>G) c.2716T>G (p.Ser906Ala) c.2266T>G (p.Ser756Ala) c.1474T>G (p.Ser492Ala) | gnomAD v4 |
| 8 | g.60841931_60841932insTACTCACCCTC | CA2531895190 | CHD7 | c.4729_4730insTACTCACCCTC (p.Ser1577LeufsTer?) c.1717-20298_1717-20297insTACTCACCCTC (n.1717-20298_1717-20297insTACTCACCCTC) c.2716_2717insTACTCACCCTC (p.Ser906LeufsTer?) c.2266_2267insTACTCACCCTC (p.Ser756LeufsTer?) c.1474_1475insTACTCACCCTC (p.Ser492LeufsTer?) | |
| 8 | g.60841932C>A | CA371319213 | CHD7 | c.4730C>A (p.Ser1577Ter) c.1717-20297C>A (n.1717-20297C>A) c.2717C>A (p.Ser906Ter) c.2267C>A (p.Ser756Ter) c.1475C>A (p.Ser492Ter) | |
| 8 | g.60841932C>G | CA371319216 | CHD7 | c.4730C>G (p.Ser1577Ter) c.1717-20297C>G (n.1717-20297C>G) c.2717C>G (p.Ser906Ter) c.2267C>G (p.Ser756Ter) c.1475C>G (p.Ser492Ter) | |
| 8 | g.60841932C>T | CA371319214 | CHD7 | c.4730C>T (p.Ser1577Leu) c.1717-20297C>T (n.1717-20297C>T) c.2717C>T (p.Ser906Leu) c.2267C>T (p.Ser756Leu) c.1475C>T (p.Ser492Leu) | |
| 8 | g.60841933del | CA2695209737 | CHD7 | c.4731del (p.Asp1578ThrfsTer?) c.1717-20296del (n.1717-20296del) c.2718del (p.Asp907ThrfsTer?) c.2268del (p.Asp757ThrfsTer?) c.1476del (p.Asp493ThrfsTer?) | |
| 8 | g.60841933A>C | CA460848190 | CHD7 | c.4731A>C (p.Ser1577=) c.1717-20296A>C (n.1717-20296A>C) c.2718A>C (p.Ser906=) c.2268A>C (p.Ser756=) c.1476A>C (p.Ser492=) | |
| 8 | g.60841933A>G | CA460848191 | CHD7 | c.4731A>G (p.Ser1577=) c.1717-20296A>G (n.1717-20296A>G) c.2718A>G (p.Ser906=) c.2268A>G (p.Ser756=) c.1476A>G (p.Ser492=) | |
| 8 | g.60841933A>T | CA460848192 | CHD7 | c.4731A>T (p.Ser1577=) c.1717-20296A>T (n.1717-20296A>T) c.2718A>T (p.Ser906=) c.2268A>T (p.Ser756=) c.1476A>T (p.Ser492=) | |
| 8 | g.60841934G>A | CA371319219 | CHD7 | c.4732G>A (p.Asp1578Asn) c.1717-20295G>A (n.1717-20295G>A) c.2719G>A (p.Asp907Asn) c.2269G>A (p.Asp757Asn) c.1477G>A (p.Asp493Asn) | COSMIC |
| 8 | g.60841934G>C | CA371319222 | CHD7 | c.4732G>C (p.Asp1578His) c.1717-20295G>C (n.1717-20295G>C) c.2719G>C (p.Asp907His) c.2269G>C (p.Asp757His) c.1477G>C (p.Asp493His) | |
| 8 | g.60841934G>T | CA371319223 | CHD7 | c.4732G>T (p.Asp1578Tyr) c.1717-20295G>T (n.1717-20295G>T) c.2719G>T (p.Asp907Tyr) c.2269G>T (p.Asp757Tyr) c.1477G>T (p.Asp493Tyr) | |
| 8 | g.60841935A= | CA1788123001 | CHD7 | c.4733A= (p.Asp1578=) c.1717-20294A= (n.1717-20294A=) c.2720A= (p.Asp907=) c.2270A= (p.Asp757=) c.1478A= (p.Asp493=) | |
| 8 | g.60841935A>C | CA371319225 | CHD7 | c.4733A>C (p.Asp1578Ala) c.1717-20294A>C (n.1717-20294A>C) c.2720A>C (p.Asp907Ala) c.2270A>C (p.Asp757Ala) c.1478A>C (p.Asp493Ala) | |
| 8 | g.60841935A>G | CA371319228 | CHD7 | c.4733A>G (p.Asp1578Gly) c.1717-20294A>G (n.1717-20294A>G) c.2720A>G (p.Asp907Gly) c.2270A>G (p.Asp757Gly) c.1478A>G (p.Asp493Gly) | |
| 8 | g.60841935A>T | CA371319229 | CHD7 | c.4733A>T (p.Asp1578Val) c.1717-20294A>T (n.1717-20294A>T) c.2720A>T (p.Asp907Val) c.2270A>T (p.Asp757Val) c.1478A>T (p.Asp493Val) | dbSNP |
| 8 | g.60841936C>A | CA371319231 | CHD7 | c.4734C>A (p.Asp1578Glu) c.1717-20293C>A (n.1717-20293C>A) c.2721C>A (p.Asp907Glu) c.2271C>A (p.Asp757Glu) c.1479C>A (p.Asp493Glu) | |
| 8 | g.60841936C= | CA1788123006 | CHD7 | c.4734C= (p.Asp1578=) c.1717-20293C= (n.1717-20293C=) c.2721C= (p.Asp907=) c.2271C= (p.Asp757=) c.1479C= (p.Asp493=) | |
| 8 | g.60841936C>G | CA371319232 | CHD7 | c.4734C>G (p.Asp1578Glu) c.1717-20293C>G (n.1717-20293C>G) c.2721C>G (p.Asp907Glu) c.2271C>G (p.Asp757Glu) c.1479C>G (p.Asp493Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841936C>T | CA460848193 | CHD7 | c.4734C>T (p.Asp1578=) c.1717-20293C>T (n.1717-20293C>T) c.2721C>T (p.Asp907=) c.2271C>T (p.Asp757=) c.1479C>T (p.Asp493=) | |
| 8 | g.60841937T>A | CA371319235 | CHD7 | c.4735T>A (p.Leu1579Met) c.1717-20292T>A (n.1717-20292T>A) c.2722T>A (p.Leu908Met) c.2272T>A (p.Leu758Met) c.1480T>A (p.Leu494Met) | |
| 8 | g.60841937T>C | CA460848194 | CHD7 | c.4735T>C (p.Leu1579=) c.1717-20292T>C (n.1717-20292T>C) c.2722T>C (p.Leu908=) c.2272T>C (p.Leu758=) c.1480T>C (p.Leu494=) | |
| 8 | g.60841937T>G | CA371319236 | CHD7 | c.4735T>G (p.Leu1579Val) c.1717-20292T>G (n.1717-20292T>G) c.2722T>G (p.Leu908Val) c.2272T>G (p.Leu758Val) c.1480T>G (p.Leu494Val) | |
| 8 | g.60841938T>A | CA371319241 | CHD7 | c.4736T>A (p.Leu1579Ter) c.1717-20291T>A (n.1717-20291T>A) c.2723T>A (p.Leu908Ter) c.2273T>A (p.Leu758Ter) c.1481T>A (p.Leu494Ter) | |
| 8 | g.60841938T>C | CA177349997 | CHD7 | c.4736T>C (p.Leu1579Ser) c.1717-20291T>C (n.1717-20291T>C) c.2723T>C (p.Leu908Ser) c.2273T>C (p.Leu758Ser) c.1481T>C (p.Leu494Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841938T>G | CA371319237 | CHD7 | c.4736T>G (p.Leu1579Trp) c.1717-20291T>G (n.1717-20291T>G) c.2723T>G (p.Leu908Trp) c.2273T>G (p.Leu758Trp) c.1481T>G (p.Leu494Trp) | |
| 8 | g.60841938T= | CA1788123012 | CHD7 | c.4736T= (p.Leu1579=) c.1717-20291T= (n.1717-20291T=) c.2723T= (p.Leu908=) c.2273T= (p.Leu758=) c.1481T= (p.Leu494=) | |
| 8 | g.60841939G>A | CA460848195 | CHD7 | c.4737G>A (p.Leu1579=) c.1717-20290G>A (n.1717-20290G>A) c.2724G>A (p.Leu908=) c.2274G>A (p.Leu758=) c.1482G>A (p.Leu494=) | |
| 8 | g.60841939G>C | CA177350000 | CHD7 | c.4737G>C (p.Leu1579Phe) c.1717-20290G>C (n.1717-20290G>C) c.2724G>C (p.Leu908Phe) c.2274G>C (p.Leu758Phe) c.1482G>C (p.Leu494Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841939G= | CA1788123015 | CHD7 | c.4737G= (p.Leu1579=) c.1717-20290G= (n.1717-20290G=) c.2724G= (p.Leu908=) c.2274G= (p.Leu758=) c.1482G= (p.Leu494=) | |
| 8 | g.60841939G>T | CA371319243 | CHD7 | c.4737G>T (p.Leu1579Phe) c.1717-20290G>T (n.1717-20290G>T) c.2724G>T (p.Leu908Phe) c.2274G>T (p.Leu758Phe) c.1482G>T (p.Leu494Phe) | |
| 8 | g.60841940G>A | CA371319246 | CHD7 | c.4738G>A (p.Glu1580Lys) c.1717-20289G>A (n.1717-20289G>A) c.2725G>A (p.Glu909Lys) c.2275G>A (p.Glu759Lys) c.1483G>A (p.Glu495Lys) | |
| 8 | g.60841940G>C | CA371319249 | CHD7 | c.4738G>C (p.Glu1580Gln) c.1717-20289G>C (n.1717-20289G>C) c.2725G>C (p.Glu909Gln) c.2275G>C (p.Glu759Gln) c.1483G>C (p.Glu495Gln) | |
| 8 | g.60841940G= | CA1788123019 | CHD7 | c.4738G= (p.Glu1580=) c.1717-20289G= (n.1717-20289G=) c.2725G= (p.Glu909=) c.2275G= (p.Glu759=) c.1483G= (p.Glu495=) | |
| 8 | g.60841940G>T | CA371319250 | CHD7 | c.4738G>T (p.Glu1580Ter) c.1717-20289G>T (n.1717-20289G>T) c.2725G>T (p.Glu909Ter) c.2275G>T (p.Glu759Ter) c.1483G>T (p.Glu495Ter) | ClinVar dbSNP |
| 8 | g.60841941A>C | CA371319254 | CHD7 | c.4739A>C (p.Glu1580Ala) c.1717-20288A>C (n.1717-20288A>C) c.2726A>C (p.Glu909Ala) c.2276A>C (p.Glu759Ala) c.1484A>C (p.Glu495Ala) | |
| 8 | g.60841941A>G | CA371319255 | CHD7 | c.4739A>G (p.Glu1580Gly) c.1717-20288A>G (n.1717-20288A>G) c.2726A>G (p.Glu909Gly) c.2276A>G (p.Glu759Gly) c.1484A>G (p.Glu495Gly) | |
| 8 | g.60841941A>T | CA371319258 | CHD7 | c.4739A>T (p.Glu1580Val) c.1717-20288A>T (n.1717-20288A>T) c.2726A>T (p.Glu909Val) c.2276A>T (p.Glu759Val) c.1484A>T (p.Glu495Val) | |
| 8 | g.60841942A>C | CA371319261 | CHD7 | c.4740A>C (p.Glu1580Asp) c.1717-20287A>C (n.1717-20287A>C) c.2727A>C (p.Glu909Asp) c.2277A>C (p.Glu759Asp) c.1485A>C (p.Glu495Asp) | |
| 8 | g.60841942A>G | CA460848196 | CHD7 | c.4740A>G (p.Glu1580=) c.1717-20287A>G (n.1717-20287A>G) c.2727A>G (p.Glu909=) c.2277A>G (p.Glu759=) c.1485A>G (p.Glu495=) | |
| 8 | g.60841942A>T | CA371319263 | CHD7 | c.4740A>T (p.Glu1580Asp) c.1717-20287A>T (n.1717-20287A>T) c.2727A>T (p.Glu909Asp) c.2277A>T (p.Glu759Asp) c.1485A>T (p.Glu495Asp) | |
| 8 | g.60841943A= | CA1788123021 | CHD7 | c.4741A= (p.Ser1581=) c.1717-20286A= (n.1717-20286A=) c.2728A= (p.Ser910=) c.2278A= (p.Ser760=) c.1486A= (p.Ser496=) | |
| 8 | g.60841943A>C | CA371319265 | CHD7 | c.4741A>C (p.Ser1581Arg) c.1717-20286A>C (n.1717-20286A>C) c.2728A>C (p.Ser910Arg) c.2278A>C (p.Ser760Arg) c.1486A>C (p.Ser496Arg) | |
| 8 | g.60841943A>G | CA4760184 | CHD7 | c.4741A>G (p.Ser1581Gly) c.1717-20286A>G (n.1717-20286A>G) c.2728A>G (p.Ser910Gly) c.2278A>G (p.Ser760Gly) c.1486A>G (p.Ser496Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841943A>T | CA371319268 | CHD7 | c.4741A>T (p.Ser1581Cys) c.1717-20286A>T (n.1717-20286A>T) c.2728A>T (p.Ser910Cys) c.2278A>T (p.Ser760Cys) c.1486A>T (p.Ser496Cys) | |
| 8 | g.60841944G>A | CA371319275 | CHD7 | c.4742G>A (p.Ser1581Asn) c.1717-20285G>A (n.1717-20285G>A) c.2729G>A (p.Ser910Asn) c.2279G>A (p.Ser760Asn) c.1487G>A (p.Ser496Asn) | |
| 8 | g.60841944G>C | CA371319278 | CHD7 | c.4742G>C (p.Ser1581Thr) c.1717-20285G>C (n.1717-20285G>C) c.2729G>C (p.Ser910Thr) c.2279G>C (p.Ser760Thr) c.1487G>C (p.Ser496Thr) | |
| 8 | g.60841944G>T | CA371319273 | CHD7 | c.4742G>T (p.Ser1581Ile) c.1717-20285G>T (n.1717-20285G>T) c.2729G>T (p.Ser910Ile) c.2279G>T (p.Ser760Ile) c.1487G>T (p.Ser496Ile) | |
| 8 | g.60841945T>A | CA371319280 | CHD7 | c.4743T>A (p.Ser1581Arg) c.1717-20284T>A (n.1717-20284T>A) c.2730T>A (p.Ser910Arg) c.2280T>A (p.Ser760Arg) c.1488T>A (p.Ser496Arg) | |
| 8 | g.60841945T>C | CA460848197 | CHD7 | c.4743T>C (p.Ser1581=) c.1717-20284T>C (n.1717-20284T>C) c.2730T>C (p.Ser910=) c.2280T>C (p.Ser760=) c.1488T>C (p.Ser496=) | |
| 8 | g.60841945T>G | CA371319282 | CHD7 | c.4743T>G (p.Ser1581Arg) c.1717-20284T>G (n.1717-20284T>G) c.2730T>G (p.Ser910Arg) c.2280T>G (p.Ser760Arg) c.1488T>G (p.Ser496Arg) | |
| 8 | g.60841946G>A | CA371319286 | CHD7 | c.4744G>A (p.Asp1582Asn) c.1717-20283G>A (n.1717-20283G>A) c.2731G>A (p.Asp911Asn) c.2281G>A (p.Asp761Asn) c.1489G>A (p.Asp497Asn) | |
| 8 | g.60841946G>C | CA371319287 | CHD7 | c.4744G>C (p.Asp1582His) c.1717-20283G>C (n.1717-20283G>C) c.2731G>C (p.Asp911His) c.2281G>C (p.Asp761His) c.1489G>C (p.Asp497His) | |
| 8 | g.60841946G>T | CA371319288 | CHD7 | c.4744G>T (p.Asp1582Tyr) c.1717-20283G>T (n.1717-20283G>T) c.2731G>T (p.Asp911Tyr) c.2281G>T (p.Asp761Tyr) c.1489G>T (p.Asp497Tyr) | |
| 8 | g.60841947A= | CA1788123023 | CHD7 | c.4745A= (p.Asp1582=) c.1717-20282A= (n.1717-20282A=) c.2732A= (p.Asp911=) c.2282A= (p.Asp761=) c.1490A= (p.Asp497=) | |
| 8 | g.60841947A>C | CA371319299 | CHD7 | c.4745A>C (p.Asp1582Ala) c.1717-20282A>C (n.1717-20282A>C) c.2732A>C (p.Asp911Ala) c.2282A>C (p.Asp761Ala) c.1490A>C (p.Asp497Ala) | |
| 8 | g.60841947A>G | CA371319290 | CHD7 | c.4745A>G (p.Asp1582Gly) c.1717-20282A>G (n.1717-20282A>G) c.2732A>G (p.Asp911Gly) c.2282A>G (p.Asp761Gly) c.1490A>G (p.Asp497Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841947A>T | CA371319293 | CHD7 | c.4745A>T (p.Asp1582Val) c.1717-20282A>T (n.1717-20282A>T) c.2732A>T (p.Asp911Val) c.2282A>T (p.Asp761Val) c.1490A>T (p.Asp497Val) | |
| 8 | g.60841948T>A | CA371319304 | CHD7 | c.4746T>A (p.Asp1582Glu) c.1717-20281T>A (n.1717-20281T>A) c.2733T>A (p.Asp911Glu) c.2283T>A (p.Asp761Glu) c.1491T>A (p.Asp497Glu) | |
| 8 | g.60841948T>C | CA4760185 | CHD7 | c.4746T>C (p.Asp1582=) c.1717-20281T>C (n.1717-20281T>C) c.2733T>C (p.Asp911=) c.2283T>C (p.Asp761=) c.1491T>C (p.Asp497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841948T>G | CA371319305 | CHD7 | c.4746T>G (p.Asp1582Glu) c.1717-20281T>G (n.1717-20281T>G) c.2733T>G (p.Asp911Glu) c.2283T>G (p.Asp761Glu) c.1491T>G (p.Asp497Glu) | ClinVar |
| 8 | g.60841948T= | CA1788123027 | CHD7 | c.4746T= (p.Asp1582=) c.1717-20281T= (n.1717-20281T=) c.2733T= (p.Asp911=) c.2283T= (p.Asp761=) c.1491T= (p.Asp497=) | |
| 8 | g.60841949del | CA2580078433 | CHD7 | c.4747del (p.Ser1583LeufsTer?) c.1717-20280del (n.1717-20280del) c.2734del (p.Ser912LeufsTer?) c.2284del (p.Ser762LeufsTer?) c.1492del (p.Ser498LeufsTer?) | ClinVar |
| 8 | g.60841949T>A | CA371319307 | CHD7 | c.4747T>A (p.Ser1583Thr) c.1717-20280T>A (n.1717-20280T>A) c.2734T>A (p.Ser912Thr) c.2284T>A (p.Ser762Thr) c.1492T>A (p.Ser498Thr) | |
| 8 | g.60841949T>C | CA371319309 | CHD7 | c.4747T>C (p.Ser1583Pro) c.1717-20280T>C (n.1717-20280T>C) c.2734T>C (p.Ser912Pro) c.2284T>C (p.Ser762Pro) c.1492T>C (p.Ser498Pro) | gnomAD v4 |
| 8 | g.60841949T>G | CA371319312 | CHD7 | c.4747T>G (p.Ser1583Ala) c.1717-20280T>G (n.1717-20280T>G) c.2734T>G (p.Ser912Ala) c.2284T>G (p.Ser762Ala) c.1492T>G (p.Ser498Ala) | |
| 8 | g.60841950C>A | CA371319320 | CHD7 | c.4748C>A (p.Ser1583Tyr) c.1717-20279C>A (n.1717-20279C>A) c.2735C>A (p.Ser912Tyr) c.2285C>A (p.Ser762Tyr) c.1493C>A (p.Ser498Tyr) | |
| 8 | g.60841950C= | CA1788123029 | CHD7 | c.4748C= (p.Ser1583=) c.1717-20279C= (n.1717-20279C=) c.2735C= (p.Ser912=) c.2285C= (p.Ser762=) c.1493C= (p.Ser498=) | |
| 8 | g.60841950C>G | CA371319318 | CHD7 | c.4748C>G (p.Ser1583Cys) c.1717-20279C>G (n.1717-20279C>G) c.2735C>G (p.Ser912Cys) c.2285C>G (p.Ser762Cys) c.1493C>G (p.Ser498Cys) | gnomAD v4 |
| 8 | g.60841950C>T | CA371319316 | CHD7 | c.4748C>T (p.Ser1583Phe) c.1717-20279C>T (n.1717-20279C>T) c.2735C>T (p.Ser912Phe) c.2285C>T (p.Ser762Phe) c.1493C>T (p.Ser498Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841951T>A | CA460848198 | CHD7 | c.4749T>A (p.Ser1583=) c.1717-20278T>A (n.1717-20278T>A) c.2736T>A (p.Ser912=) c.2286T>A (p.Ser762=) c.1494T>A (p.Ser498=) | |
| 8 | g.60841951T>C | CA460848199 | CHD7 | c.4749T>C (p.Ser1583=) c.1717-20278T>C (n.1717-20278T>C) c.2736T>C (p.Ser912=) c.2286T>C (p.Ser762=) c.1494T>C (p.Ser498=) | |
| 8 | g.60841951T>G | CA460848200 | CHD7 | c.4749T>G (p.Ser1583=) c.1717-20278T>G (n.1717-20278T>G) c.2736T>G (p.Ser912=) c.2286T>G (p.Ser762=) c.1494T>G (p.Ser498=) | |
| 8 | g.60841952G>A | CA371319322 | CHD7 | c.4750G>A (p.Glu1584Lys) c.1717-20277G>A (n.1717-20277G>A) c.2737G>A (p.Glu913Lys) c.2287G>A (p.Glu763Lys) c.1495G>A (p.Glu499Lys) | |
| 8 | g.60841952G>C | CA371319326 | CHD7 | c.4750G>C (p.Glu1584Gln) c.1717-20277G>C (n.1717-20277G>C) c.2737G>C (p.Glu913Gln) c.2287G>C (p.Glu763Gln) c.1495G>C (p.Glu499Gln) | |
| 8 | g.60841952G>T | CA371319324 | CHD7 | c.4750G>T (p.Glu1584Ter) c.1717-20277G>T (n.1717-20277G>T) c.2737G>T (p.Glu913Ter) c.2287G>T (p.Glu763Ter) c.1495G>T (p.Glu499Ter) | |
| 8 | g.60841953A>C | CA371319329 | CHD7 | c.4751A>C (p.Glu1584Ala) c.1717-20276A>C (n.1717-20276A>C) c.2738A>C (p.Glu913Ala) c.2288A>C (p.Glu763Ala) c.1496A>C (p.Glu499Ala) | |
| 8 | g.60841953A>G | CA371319331 | CHD7 | c.4751A>G (p.Glu1584Gly) c.1717-20276A>G (n.1717-20276A>G) c.2738A>G (p.Glu913Gly) c.2288A>G (p.Glu763Gly) c.1496A>G (p.Glu499Gly) | |
| 8 | g.60841953A>T | CA371319334 | CHD7 | c.4751A>T (p.Glu1584Val) c.1717-20276A>T (n.1717-20276A>T) c.2738A>T (p.Glu913Val) c.2288A>T (p.Glu763Val) c.1496A>T (p.Glu499Val) | |
| 8 | g.60841954A= | CA1788123032 | CHD7 | c.4752A= (p.Glu1584=) c.1717-20275A= (n.1717-20275A=) c.2739A= (p.Glu913=) c.2289A= (p.Glu763=) c.1497A= (p.Glu499=) | |
| 8 | g.60841954A>C | CA371319335 | CHD7 | c.4752A>C (p.Glu1584Asp) c.1717-20275A>C (n.1717-20275A>C) c.2739A>C (p.Glu913Asp) c.2289A>C (p.Glu763Asp) c.1497A>C (p.Glu499Asp) | |
| 8 | g.60841954A>G | CA4760186 | CHD7 | c.4752A>G (p.Glu1584=) c.1717-20275A>G (n.1717-20275A>G) c.2739A>G (p.Glu913=) c.2289A>G (p.Glu763=) c.1497A>G (p.Glu499=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841954A>T | CA371319338 | CHD7 | c.4752A>T (p.Glu1584Asp) c.1717-20275A>T (n.1717-20275A>T) c.2739A>T (p.Glu913Asp) c.2289A>T (p.Glu763Asp) c.1497A>T (p.Glu499Asp) | |
| 8 | g.60841955G>A | CA371319341 | CHD7 | c.4753G>A (p.Glu1585Lys) c.1717-20274G>A (n.1717-20274G>A) c.2740G>A (p.Glu914Lys) c.2290G>A (p.Glu764Lys) c.1498G>A (p.Glu500Lys) | |
| 8 | g.60841955G>C | CA371319343 | CHD7 | c.4753G>C (p.Glu1585Gln) c.1717-20274G>C (n.1717-20274G>C) c.2740G>C (p.Glu914Gln) c.2290G>C (p.Glu764Gln) c.1498G>C (p.Glu500Gln) | gnomAD v4 |
| 8 | g.60841955G>T | CA371319345 | CHD7 | c.4753G>T (p.Glu1585Ter) c.1717-20274G>T (n.1717-20274G>T) c.2740G>T (p.Glu914Ter) c.2290G>T (p.Glu764Ter) c.1498G>T (p.Glu500Ter) | |
| 8 | g.60841956A>C | CA371319349 | CHD7 | c.4754A>C (p.Glu1585Ala) c.1717-20273A>C (n.1717-20273A>C) c.2741A>C (p.Glu914Ala) c.2291A>C (p.Glu764Ala) c.1499A>C (p.Glu500Ala) | |
| 8 | g.60841956A>G | CA371319352 | CHD7 | c.4754A>G (p.Glu1585Gly) c.1717-20273A>G (n.1717-20273A>G) c.2741A>G (p.Glu914Gly) c.2291A>G (p.Glu764Gly) c.1499A>G (p.Glu500Gly) | |
| 8 | g.60841956A>T | CA371319355 | CHD7 | c.4754A>T (p.Glu1585Val) c.1717-20273A>T (n.1717-20273A>T) c.2741A>T (p.Glu914Val) c.2291A>T (p.Glu764Val) c.1499A>T (p.Glu500Val) | |
| 8 | g.60841959del | CA2739268817 | CHD7 | c.4757del (p.Lys1586SerfsTer?) c.1717-20270del (n.1717-20270del) c.2744del (p.Lys915SerfsTer?) c.2294del (p.Lys765SerfsTer?) c.1502del (p.Lys501SerfsTer?) | ClinVar |
| 8 | g.60841958_60841959del | CA2695209738 | CHD7 | c.4756_4757del (p.Lys1586AlafsTer11) c.1717-20271_1717-20270del (n.1717-20271_1717-20270del) c.2743_2744del (p.Lys915AlafsTer11) c.2293_2294del (p.Lys765AlafsTer11) c.1501_1502del (p.Lys501AlafsTer11) | |
| 8 | g.60841957A>C | CA371319359 | CHD7 | c.4755A>C (p.Glu1585Asp) c.1717-20272A>C (n.1717-20272A>C) c.2742A>C (p.Glu914Asp) c.2292A>C (p.Glu764Asp) c.1500A>C (p.Glu500Asp) | gnomAD v4 |
| 8 | g.60841957A>G | CA460848201 | CHD7 | c.4755A>G (p.Glu1585=) c.1717-20272A>G (n.1717-20272A>G) c.2742A>G (p.Glu914=) c.2292A>G (p.Glu764=) c.1500A>G (p.Glu500=) | |
| 8 | g.60841957A>T | CA371319357 | CHD7 | c.4755A>T (p.Glu1585Asp) c.1717-20272A>T (n.1717-20272A>T) c.2742A>T (p.Glu914Asp) c.2292A>T (p.Glu764Asp) c.1500A>T (p.Glu500Asp) | |
| 8 | g.60841958A>C | CA371319363 | CHD7 | c.4756A>C (p.Lys1586Gln) c.1717-20271A>C (n.1717-20271A>C) c.2743A>C (p.Lys915Gln) c.2293A>C (p.Lys765Gln) c.1501A>C (p.Lys501Gln) | |
| 8 | g.60841958A>G | CA371319364 | CHD7 | c.4756A>G (p.Lys1586Glu) c.1717-20271A>G (n.1717-20271A>G) c.2743A>G (p.Lys915Glu) c.2293A>G (p.Lys765Glu) c.1501A>G (p.Lys501Glu) | |
| 8 | g.60841958A>T | CA371319366 | CHD7 | c.4756A>T (p.Lys1586Ter) c.1717-20271A>T (n.1717-20271A>T) c.2743A>T (p.Lys915Ter) c.2293A>T (p.Lys765Ter) c.1501A>T (p.Lys501Ter) | |
| 8 | g.60841959A>C | CA371319369 | CHD7 | c.4757A>C (p.Lys1586Thr) c.1717-20270A>C (n.1717-20270A>C) c.2744A>C (p.Lys915Thr) c.2294A>C (p.Lys765Thr) c.1502A>C (p.Lys501Thr) | |
| 8 | g.60841959A>G | CA371319371 | CHD7 | c.4757A>G (p.Lys1586Arg) c.1717-20270A>G (n.1717-20270A>G) c.2744A>G (p.Lys915Arg) c.2294A>G (p.Lys765Arg) c.1502A>G (p.Lys501Arg) | |
| 8 | g.60841959A>T | CA371319373 | CHD7 | c.4757A>T (p.Lys1586Met) c.1717-20270A>T (n.1717-20270A>T) c.2744A>T (p.Lys915Met) c.2294A>T (p.Lys765Met) c.1502A>T (p.Lys501Met) | |
| 8 | g.60841960G>A | CA460848203 | CHD7 | c.4758G>A (p.Lys1586=) c.1717-20269G>A (n.1717-20269G>A) c.2745G>A (p.Lys915=) c.2295G>A (p.Lys765=) c.1503G>A (p.Lys501=) | |
| 8 | g.60841960G>C | CA371319377 | CHD7 | c.4758G>C (p.Lys1586Asn) c.1717-20269G>C (n.1717-20269G>C) c.2745G>C (p.Lys915Asn) c.2295G>C (p.Lys765Asn) c.1503G>C (p.Lys501Asn) | |
| 8 | g.60841960G= | CA1788123036 | CHD7 | c.4758G= (p.Lys1586=) c.1717-20269G= (n.1717-20269G=) c.2745G= (p.Lys915=) c.2295G= (p.Lys765=) c.1503G= (p.Lys501=) | |
| 8 | g.60841960G>T | CA371319374 | CHD7 | c.4758G>T (p.Lys1586Asn) c.1717-20269G>T (n.1717-20269G>T) c.2745G>T (p.Lys915Asn) c.2295G>T (p.Lys765Asn) c.1503G>T (p.Lys501Asn) | |
| 8 | g.60841960_60841961insAGGAGATACATTTGA | CA1788123040 | CHD7 | c.4758_4759insAGGAGATACATTTGA c.1717-20269_1717-20268insAGGAGATACATTTGA (n.1717-20269_1717-20268insAGGAGATACATTTGA) c.2745_2746insAGGAGATACATTTGA c.2295_2296insAGGAGATACATTTGA c.1503_1504insAGGAGATACATTTGA | dbSNP |
| 8 | g.60841961C>A | CA371319379 | CHD7 | c.4759C>A (p.Pro1587Thr) c.1717-20268C>A (n.1717-20268C>A) c.2746C>A (p.Pro916Thr) c.2296C>A (p.Pro766Thr) c.1504C>A (p.Pro502Thr) | |
| 8 | g.60841961C= | CA1788123045 | CHD7 | c.4759C= (p.Pro1587=) c.1717-20268C= (n.1717-20268C=) c.2746C= (p.Pro916=) c.2296C= (p.Pro766=) c.1504C= (p.Pro502=) | |
| 8 | g.60841961C>G | CA371319381 | CHD7 | c.4759C>G (p.Pro1587Ala) c.1717-20268C>G (n.1717-20268C>G) c.2746C>G (p.Pro916Ala) c.2296C>G (p.Pro766Ala) c.1504C>G (p.Pro502Ala) | |
| 8 | g.60841961C>T | CA177350007 | CHD7 | c.4759C>T (p.Pro1587Ser) c.1717-20268C>T (n.1717-20268C>T) c.2746C>T (p.Pro916Ser) c.2296C>T (p.Pro766Ser) c.1504C>T (p.Pro502Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841963del | CA2687399538 | CHD7 | c.4761del (p.Cys1588ValfsTer?) c.1717-20266del (n.1717-20266del) c.2748del (p.Cys917ValfsTer?) c.2298del (p.Cys767ValfsTer?) c.1506del (p.Cys503ValfsTer?) | gnomAD v4 |
| 8 | g.60841962C>A | CA371319384 | CHD7 | c.4760C>A (p.Pro1587His) c.1717-20267C>A (n.1717-20267C>A) c.2747C>A (p.Pro916His) c.2297C>A (p.Pro766His) c.1505C>A (p.Pro502His) | |
| 8 | g.60841962C= | CA1788123053 | CHD7 | c.4760C= (p.Pro1587=) c.1717-20267C= (n.1717-20267C=) c.2747C= (p.Pro916=) c.2297C= (p.Pro766=) c.1505C= (p.Pro502=) | |
| 8 | g.60841962C>G | CA371319386 | CHD7 | c.4760C>G (p.Pro1587Arg) c.1717-20267C>G (n.1717-20267C>G) c.2747C>G (p.Pro916Arg) c.2297C>G (p.Pro766Arg) c.1505C>G (p.Pro502Arg) | |
| 8 | g.60841962C>T | CA271306 | CHD7 | c.4760C>T (p.Pro1587Leu) c.1717-20267C>T (n.1717-20267C>T) c.2747C>T (p.Pro916Leu) c.2297C>T (p.Pro766Leu) c.1505C>T (p.Pro502Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.60841963C>A | CA460848206 | CHD7 | c.4761C>A (p.Pro1587=) c.1717-20266C>A (n.1717-20266C>A) c.2748C>A (p.Pro916=) c.2298C>A (p.Pro766=) c.1506C>A (p.Pro502=) | |
| 8 | g.60841963C>G | CA460848205 | CHD7 | c.4761C>G (p.Pro1587=) c.1717-20266C>G (n.1717-20266C>G) c.2748C>G (p.Pro916=) c.2298C>G (p.Pro766=) c.1506C>G (p.Pro502=) | |
| 8 | g.60841963C>T | CA460848204 | CHD7 | c.4761C>T (p.Pro1587=) c.1717-20266C>T (n.1717-20266C>T) c.2748C>T (p.Pro916=) c.2298C>T (p.Pro766=) c.1506C>T (p.Pro502=) | |
| 8 | g.60841964T>A | CA4760187 | CHD7 | c.4762T>A (p.Cys1588Ser) c.1717-20265T>A (n.1717-20265T>A) c.2749T>A (p.Cys917Ser) c.2299T>A (p.Cys767Ser) c.1507T>A (p.Cys503Ser) | dbSNP ExAC gnomAD v2 |
| 8 | g.60841964T>C | CA371319392 | CHD7 | c.4762T>C (p.Cys1588Arg) c.1717-20265T>C (n.1717-20265T>C) c.2749T>C (p.Cys917Arg) c.2299T>C (p.Cys767Arg) c.1507T>C (p.Cys503Arg) | gnomAD v4 |
| 8 | g.60841964T>G | CA371319390 | CHD7 | c.4762T>G (p.Cys1588Gly) c.1717-20265T>G (n.1717-20265T>G) c.2749T>G (p.Cys917Gly) c.2299T>G (p.Cys767Gly) c.1507T>G (p.Cys503Gly) | |
| 8 | g.60841964T= | CA1788123064 | CHD7 | c.4762T= (p.Cys1588=) c.1717-20265T= (n.1717-20265T=) c.2749T= (p.Cys917=) c.2299T= (p.Cys767=) c.1507T= (p.Cys503=) | |
| 8 | g.60841965G>A | CA371319394 | CHD7 | c.4763G>A (p.Cys1588Tyr) c.1717-20264G>A (n.1717-20264G>A) c.2750G>A (p.Cys917Tyr) c.2300G>A (p.Cys767Tyr) c.1508G>A (p.Cys503Tyr) | gnomAD v4 |
| 8 | g.60841965G>C | CA371319396 | CHD7 | c.4763G>C (p.Cys1588Ser) c.1717-20264G>C (n.1717-20264G>C) c.2750G>C (p.Cys917Ser) c.2300G>C (p.Cys767Ser) c.1508G>C (p.Cys503Ser) | |
| 8 | g.60841965G= | CA1788123082 | CHD7 | c.4763G= (p.Cys1588=) c.1717-20264G= (n.1717-20264G=) c.2750G= (p.Cys917=) c.2300G= (p.Cys767=) c.1508G= (p.Cys503=) | |
| 8 | g.60841965G>T | CA177350014 | CHD7 | c.4763G>T (p.Cys1588Phe) c.1717-20264G>T (n.1717-20264G>T) c.2750G>T (p.Cys917Phe) c.2300G>T (p.Cys767Phe) c.1508G>T (p.Cys503Phe) | dbSNP gnomAD v4 |
| 8 | g.60841966T>A | CA371319400 | CHD7 | c.4764T>A (p.Cys1588Ter) c.1717-20263T>A (n.1717-20263T>A) c.2751T>A (p.Cys917Ter) c.2301T>A (p.Cys767Ter) c.1509T>A (p.Cys503Ter) | |
| 8 | g.60841966T>C | CA460848207 | CHD7 | c.4764T>C (p.Cys1588=) c.1717-20263T>C (n.1717-20263T>C) c.2751T>C (p.Cys917=) c.2301T>C (p.Cys767=) c.1509T>C (p.Cys503=) | |
| 8 | g.60841966T>G | CA4760188 | CHD7 | c.4764T>G (p.Cys1588Trp) c.1717-20263T>G (n.1717-20263T>G) c.2751T>G (p.Cys917Trp) c.2301T>G (p.Cys767Trp) c.1509T>G (p.Cys503Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841966T= | CA1788123086 | CHD7 | c.4764T= (p.Cys1588=) c.1717-20263T= (n.1717-20263T=) c.2751T= (p.Cys917=) c.2301T= (p.Cys767=) c.1509T= (p.Cys503=) | |
| 8 | g.60841967G>A | CA371319410 | CHD7 | c.4765G>A (p.Ala1589Thr) c.1717-20262G>A (n.1717-20262G>A) c.2752G>A (p.Ala918Thr) c.2302G>A (p.Ala768Thr) c.1510G>A (p.Ala504Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841967G>C | CA371319408 | CHD7 | c.4765G>C (p.Ala1589Pro) c.1717-20262G>C (n.1717-20262G>C) c.2752G>C (p.Ala918Pro) c.2302G>C (p.Ala768Pro) c.1510G>C (p.Ala504Pro) | |
| 8 | g.60841967G= | CA1788123090 | CHD7 | c.4765G= (p.Ala1589=) c.1717-20262G= (n.1717-20262G=) c.2752G= (p.Ala918=) c.2302G= (p.Ala768=) c.1510G= (p.Ala504=) | |
| 8 | g.60841967G>T | CA371319405 | CHD7 | c.4765G>T (p.Ala1589Ser) c.1717-20262G>T (n.1717-20262G>T) c.2752G>T (p.Ala918Ser) c.2302G>T (p.Ala768Ser) c.1510G>T (p.Ala504Ser) | |
| 8 | g.60841967_60841968insACTTATCCTGGGGA | CA2780535378 | CHD7 | c.4765_4766insACTTATCCTGGGGA (p.Ala1589AspfsTer?) c.1717-20262_1717-20261insACTTATCCTGGGGA (n.1717-20262_1717-20261insACTTATCCTGGGGA) c.2752_2753insACTTATCCTGGGGA (p.Ala918AspfsTer?) c.2302_2303insACTTATCCTGGGGA (p.Ala768AspfsTer?) c.1510_1511insACTTATCCTGGGGA (p.Ala504AspfsTer?) c.4765_4766insACTTATCCTGGGGA (p.Ala1589AspfsTer35) | |
| 8 | g.60841968C>A | CA371319411 | CHD7 | c.4766C>A (p.Ala1589Glu) c.1717-20261C>A (n.1717-20261C>A) c.2753C>A (p.Ala918Glu) c.2303C>A (p.Ala768Glu) c.1511C>A (p.Ala504Glu) | |
| 8 | g.60841968C>G | CA371319414 | CHD7 | c.4766C>G (p.Ala1589Gly) c.1717-20261C>G (n.1717-20261C>G) c.2753C>G (p.Ala918Gly) c.2303C>G (p.Ala768Gly) c.1511C>G (p.Ala504Gly) | |
| 8 | g.60841968C>T | CA371319416 | CHD7 | c.4766C>T (p.Ala1589Val) c.1717-20261C>T (n.1717-20261C>T) c.2753C>T (p.Ala918Val) c.2303C>T (p.Ala768Val) c.1511C>T (p.Ala504Val) | gnomAD v4 |
| 8 | g.60841969A>C | CA460848208 | CHD7 | c.4767A>C (p.Ala1589=) c.1717-20260A>C (n.1717-20260A>C) c.2754A>C (p.Ala918=) c.2304A>C (p.Ala768=) c.1512A>C (p.Ala504=) | |
| 8 | g.60841969A>G | CA460848209 | CHD7 | c.4767A>G (p.Ala1589=) c.1717-20260A>G (n.1717-20260A>G) c.2754A>G (p.Ala918=) c.2304A>G (p.Ala768=) c.1512A>G (p.Ala504=) | |
| 8 | g.60841969A>T | CA460848210 | CHD7 | c.4767A>T (p.Ala1589=) c.1717-20260A>T (n.1717-20260A>T) c.2754A>T (p.Ala918=) c.2304A>T (p.Ala768=) c.1512A>T (p.Ala504=) | |
| 8 | g.60841970A>C | CA371319419 | CHD7 | c.4768A>C (p.Lys1590Gln) c.1717-20259A>C (n.1717-20259A>C) c.2755A>C (p.Lys919Gln) c.2305A>C (p.Lys769Gln) c.1513A>C (p.Lys505Gln) | gnomAD v4 |
| 8 | g.60841970A>G | CA371319421 | CHD7 | c.4768A>G (p.Lys1590Glu) c.1717-20259A>G (n.1717-20259A>G) c.2755A>G (p.Lys919Glu) c.2305A>G (p.Lys769Glu) c.1513A>G (p.Lys505Glu) | |
| 8 | g.60841970A>T | CA371319422 | CHD7 | c.4768A>T (p.Lys1590Ter) c.1717-20259A>T (n.1717-20259A>T) c.2755A>T (p.Lys919Ter) c.2305A>T (p.Lys769Ter) c.1513A>T (p.Lys505Ter) | |
| 8 | g.60841971A>C | CA371319425 | CHD7 | c.4769A>C (p.Lys1590Thr) c.1717-20258A>C (n.1717-20258A>C) c.2756A>C (p.Lys919Thr) c.2306A>C (p.Lys769Thr) c.1514A>C (p.Lys505Thr) | |
| 8 | g.60841971A>G | CA371319430 | CHD7 | c.4769A>G (p.Lys1590Arg) c.1717-20258A>G (n.1717-20258A>G) c.2756A>G (p.Lys919Arg) c.2306A>G (p.Lys769Arg) c.1514A>G (p.Lys505Arg) | |
| 8 | g.60841971A>T | CA371319427 | CHD7 | c.4769A>T (p.Lys1590Met) c.1717-20258A>T (n.1717-20258A>T) c.2756A>T (p.Lys919Met) c.2306A>T (p.Lys769Met) c.1514A>T (p.Lys505Met) | |
| 8 | g.60841972G>A | CA460848211 | CHD7 | c.4770G>A (p.Lys1590=) c.1717-20257G>A (n.1717-20257G>A) c.2757G>A (p.Lys919=) c.2307G>A (p.Lys769=) c.1515G>A (p.Lys505=) | |
| 8 | g.60841972G>C | CA371319432 | CHD7 | c.4770G>C (p.Lys1590Asn) c.1717-20257G>C (n.1717-20257G>C) c.2757G>C (p.Lys919Asn) c.2307G>C (p.Lys769Asn) c.1515G>C (p.Lys505Asn) | |
| 8 | g.60841972G>T | CA371319435 | CHD7 | c.4770G>T (p.Lys1590Asn) c.1717-20257G>T (n.1717-20257G>T) c.2757G>T (p.Lys919Asn) c.2307G>T (p.Lys769Asn) c.1515G>T (p.Lys505Asn) | |
| 8 | g.60841973C>A | CA371319437 | CHD7 | c.4771C>A (p.Pro1591Thr) c.1717-20256C>A (n.1717-20256C>A) c.2758C>A (p.Pro920Thr) c.2308C>A (p.Pro770Thr) c.1516C>A (p.Pro506Thr) | |
| 8 | g.60841973C>G | CA371319439 | CHD7 | c.4771C>G (p.Pro1591Ala) c.1717-20256C>G (n.1717-20256C>G) c.2758C>G (p.Pro920Ala) c.2308C>G (p.Pro770Ala) c.1516C>G (p.Pro506Ala) | gnomAD v4 |
| 8 | g.60841973C>T | CA371319440 | CHD7 | c.4771C>T (p.Pro1591Ser) c.1717-20256C>T (n.1717-20256C>T) c.2758C>T (p.Pro920Ser) c.2308C>T (p.Pro770Ser) c.1516C>T (p.Pro506Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60841974C>A | CA371319442 | CHD7 | c.4772C>A (p.Pro1591Gln) c.1717-20255C>A (n.1717-20255C>A) c.2759C>A (p.Pro920Gln) c.2309C>A (p.Pro770Gln) c.1517C>A (p.Pro506Gln) | |
| 8 | g.60841974C>G | CA371319444 | CHD7 | c.4772C>G (p.Pro1591Arg) c.1717-20255C>G (n.1717-20255C>G) c.2759C>G (p.Pro920Arg) c.2309C>G (p.Pro770Arg) c.1517C>G (p.Pro506Arg) | |
| 8 | g.60841974C>T | CA371319445 | CHD7 | c.4772C>T (p.Pro1591Leu) c.1717-20255C>T (n.1717-20255C>T) c.2759C>T (p.Pro920Leu) c.2309C>T (p.Pro770Leu) c.1517C>T (p.Pro506Leu) | |
| 8 | g.60841975A>C | CA460848212 | CHD7 | c.4773A>C (p.Pro1591=) c.1717-20254A>C (n.1717-20254A>C) c.2760A>C (p.Pro920=) c.2310A>C (p.Pro770=) c.1518A>C (p.Pro506=) | |
| 8 | g.60841975A>G | CA460848213 | CHD7 | c.4773A>G (p.Pro1591=) c.1717-20254A>G (n.1717-20254A>G) c.2760A>G (p.Pro920=) c.2310A>G (p.Pro770=) c.1518A>G (p.Pro506=) | |
| 8 | g.60841975A>T | CA460848214 | CHD7 | c.4773A>T (p.Pro1591=) c.1717-20254A>T (n.1717-20254A>T) c.2760A>T (p.Pro920=) c.2310A>T (p.Pro770=) c.1518A>T (p.Pro506=) | |
| 8 | g.60841976C>A | CA460848215 | CHD7 | c.4774C>A (p.Arg1592=) c.1717-20253C>A (n.1717-20253C>A) c.2761C>A (p.Arg921=) c.2311C>A (p.Arg771=) c.1519C>A (p.Arg507=) | |
| 8 | g.60841976C= | CA1788123092 | CHD7 | c.4774C= (p.Arg1592=) c.1717-20253C= (n.1717-20253C=) c.2761C= (p.Arg921=) c.2311C= (p.Arg771=) c.1519C= (p.Arg507=) | |
| 8 | g.60841976C>G | CA371319446 | CHD7 | c.4774C>G (p.Arg1592Gly) c.1717-20253C>G (n.1717-20253C>G) c.2761C>G (p.Arg921Gly) c.2311C>G (p.Arg771Gly) c.1519C>G (p.Arg507Gly) | |
| 8 | g.60841976C>T | CA4760189 | CHD7 | c.4774C>T (p.Arg1592Trp) c.1717-20253C>T (n.1717-20253C>T) c.2761C>T (p.Arg921Trp) c.2311C>T (p.Arg771Trp) c.1519C>T (p.Arg507Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841977G>A | CA371319449 | CHD7 | c.4775G>A (p.Arg1592Gln) c.1717-20252G>A (n.1717-20252G>A) c.2762G>A (p.Arg921Gln) c.2312G>A (p.Arg771Gln) c.1520G>A (p.Arg507Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.60841977G>C | CA371319453 | CHD7 | c.4775G>C (p.Arg1592Pro) c.1717-20252G>C (n.1717-20252G>C) c.2762G>C (p.Arg921Pro) c.2312G>C (p.Arg771Pro) c.1520G>C (p.Arg507Pro) | |
| 8 | g.60841977G= | CA1788123096 | CHD7 | c.4775G= (p.Arg1592=) c.1717-20252G= (n.1717-20252G=) c.2762G= (p.Arg921=) c.2312G= (p.Arg771=) c.1520G= (p.Arg507=) | |
| 8 | g.60841977G>T | CA371319451 | CHD7 | c.4775G>T (p.Arg1592Leu) c.1717-20252G>T (n.1717-20252G>T) c.2762G>T (p.Arg921Leu) c.2312G>T (p.Arg771Leu) c.1520G>T (p.Arg507Leu) | |
| 8 | g.60841978G>A | CA460848216 | CHD7 | c.4776G>A (p.Arg1592=) c.1717-20251G>A (n.1717-20251G>A) c.2763G>A (p.Arg921=) c.2313G>A (p.Arg771=) c.1521G>A (p.Arg507=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841978G>C | CA460848217 | CHD7 | c.4776G>C (p.Arg1592=) c.1717-20251G>C (n.1717-20251G>C) c.2763G>C (p.Arg921=) c.2313G>C (p.Arg771=) c.1521G>C (p.Arg507=) | |
| 8 | g.60841978G= | CA1788123104 | CHD7 | c.4776G= (p.Arg1592=) c.1717-20251G= (n.1717-20251G=) c.2763G= (p.Arg921=) c.2313G= (p.Arg771=) c.1521G= (p.Arg507=) | |
| 8 | g.60841978G>T | CA460848218 | CHD7 | c.4776G>T (p.Arg1592=) c.1717-20251G>T (n.1717-20251G>T) c.2763G>T (p.Arg921=) c.2313G>T (p.Arg771=) c.1521G>T (p.Arg507=) | |
| 8 | g.60841979C>A | CA371319454 | CHD7 | c.4777C>A (p.Arg1593Ser) c.1717-20250C>A (n.1717-20250C>A) c.2764C>A (p.Arg922Ser) c.2314C>A (p.Arg772Ser) c.1522C>A (p.Arg508Ser) | |
| 8 | g.60841979C= | CA1788123109 | CHD7 | c.4777C= (p.Arg1593=) c.1717-20250C= (n.1717-20250C=) c.2764C= (p.Arg922=) c.2314C= (p.Arg772=) c.1522C= (p.Arg508=) | |
| 8 | g.60841979C>G | CA371319457 | CHD7 | c.4777C>G (p.Arg1593Gly) c.1717-20250C>G (n.1717-20250C>G) c.2764C>G (p.Arg922Gly) c.2314C>G (p.Arg772Gly) c.1522C>G (p.Arg508Gly) | |
| 8 | g.60841979C>T | CA4760190 | CHD7 | c.4777C>T (p.Arg1593Cys) c.1717-20250C>T (n.1717-20250C>T) c.2764C>T (p.Arg922Cys) c.2314C>T (p.Arg772Cys) c.1522C>T (p.Arg508Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.60841980G>A | CA4760191 | CHD7 | c.4778G>A (p.Arg1593His) c.1717-20249G>A (n.1717-20249G>A) c.2765G>A (p.Arg922His) c.2315G>A (p.Arg772His) c.1523G>A (p.Arg508His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60841980G>C | CA371319461 | CHD7 | c.4778G>C (p.Arg1593Pro) c.1717-20249G>C (n.1717-20249G>C) c.2765G>C (p.Arg922Pro) c.2315G>C (p.Arg772Pro) c.1523G>C (p.Arg508Pro) | |
| 8 | g.60841980G= | CA1788123122 | CHD7 | c.4778G= (p.Arg1593=) c.1717-20249G= (n.1717-20249G=) c.2765G= (p.Arg922=) c.2315G= (p.Arg772=) c.1523G= (p.Arg508=) | |
| 8 | g.60841980G>T | CA371319462 | CHD7 | c.4778G>T (p.Arg1593Leu) c.1717-20249G>T (n.1717-20249G>T) c.2765G>T (p.Arg922Leu) c.2315G>T (p.Arg772Leu) c.1523G>T (p.Arg508Leu) | COSMIC |
| 8 | g.60841981T>A | CA460848219 | CHD7 | c.4779T>A (p.Arg1593=) c.1717-20248T>A (n.1717-20248T>A) c.2766T>A (p.Arg922=) c.2316T>A (p.Arg772=) c.1524T>A (p.Arg508=) | |
| 8 | g.60841981T>C | CA460848220 | CHD7 | c.4779T>C (p.Arg1593=) c.1717-20248T>C (n.1717-20248T>C) c.2766T>C (p.Arg922=) c.2316T>C (p.Arg772=) c.1524T>C (p.Arg508=) | ClinVar dbSNP |
| 8 | g.60841981T>G | CA460848221 | CHD7 | c.4779T>G (p.Arg1593=) c.1717-20248T>G (n.1717-20248T>G) c.2766T>G (p.Arg922=) c.2316T>G (p.Arg772=) c.1524T>G (p.Arg508=) | ClinVar |
| 8 | g.60841981T= | CA1788123136 | CHD7 | c.4779T= (p.Arg1593=) c.1717-20248T= (n.1717-20248T=) c.2766T= (p.Arg922=) c.2316T= (p.Arg772=) c.1524T= (p.Arg508=) | |
| 8 | g.60841982C>A | CA371319464 | CHD7 | c.4780C>A (p.Pro1594Thr) c.1717-20247C>A (n.1717-20247C>A) c.2767C>A (p.Pro923Thr) c.2317C>A (p.Pro773Thr) c.1525C>A (p.Pro509Thr) | |
| 8 | g.60841982C>G | CA371319465 | CHD7 | c.4780C>G (p.Pro1594Ala) c.1717-20247C>G (n.1717-20247C>G) c.2767C>G (p.Pro923Ala) c.2317C>G (p.Pro773Ala) c.1525C>G (p.Pro509Ala) | |
| 8 | g.60841982C>T | CA371319467 | CHD7 | c.4780C>T (p.Pro1594Ser) c.1717-20247C>T (n.1717-20247C>T) c.2767C>T (p.Pro923Ser) c.2317C>T (p.Pro773Ser) c.1525C>T (p.Pro509Ser) | |
| 8 | g.60841983C>A | CA371319469 | CHD7 | c.4781C>A (p.Pro1594His) c.1717-20246C>A (n.1717-20246C>A) c.2768C>A (p.Pro923His) c.2318C>A (p.Pro773His) c.1526C>A (p.Pro509His) | |
| 8 | g.60841983C>G | CA371319471 | CHD7 | c.4781C>G (p.Pro1594Arg) c.1717-20246C>G (n.1717-20246C>G) c.2768C>G (p.Pro923Arg) c.2318C>G (p.Pro773Arg) c.1526C>G (p.Pro509Arg) | |
| 8 | g.60841983C>T | CA371319472 | CHD7 | c.4781C>T (p.Pro1594Leu) c.1717-20246C>T (n.1717-20246C>T) c.2768C>T (p.Pro923Leu) c.2318C>T (p.Pro773Leu) c.1526C>T (p.Pro509Leu) | |
| 8 | g.60841984C>A | CA460848223 | CHD7 | c.4782C>A (p.Pro1594=) c.1717-20245C>A (n.1717-20245C>A) c.2769C>A (p.Pro923=) c.2319C>A (p.Pro773=) c.1527C>A (p.Pro509=) | |
| 8 | g.60841984C= | CA1788123141 | CHD7 | c.4782C= (p.Pro1594=) c.1717-20245C= (n.1717-20245C=) c.2769C= (p.Pro923=) c.2319C= (p.Pro773=) c.1527C= (p.Pro509=) | |
| 8 | g.60841984C>G | CA4760192 | CHD7 | c.4782C>G (p.Pro1594=) c.1717-20245C>G (n.1717-20245C>G) c.2769C>G (p.Pro923=) c.2319C>G (p.Pro773=) c.1527C>G (p.Pro509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841984C>T | CA460848222 | CHD7 | c.4782C>T (p.Pro1594=) c.1717-20245C>T (n.1717-20245C>T) c.2769C>T (p.Pro923=) c.2319C>T (p.Pro773=) c.1527C>T (p.Pro509=) | |
| 8 | g.60841985C>A | CA371319474 | CHD7 | c.4783C>A (p.Gln1595Lys) c.1717-20244C>A (n.1717-20244C>A) c.2770C>A (p.Gln924Lys) c.2320C>A (p.Gln774Lys) c.1528C>A (p.Gln510Lys) | dbSNP |
| 8 | g.60841985C= | CA1788123145 | CHD7 | c.4783C= (p.Gln1595=) c.1717-20244C= (n.1717-20244C=) c.2770C= (p.Gln924=) c.2320C= (p.Gln774=) c.1528C= (p.Gln510=) | |
| 8 | g.60841985C>G | CA371319475 | CHD7 | c.4783C>G (p.Gln1595Glu) c.1717-20244C>G (n.1717-20244C>G) c.2770C>G (p.Gln924Glu) c.2320C>G (p.Gln774Glu) c.1528C>G (p.Gln510Glu) | |
| 8 | g.60841985C>T | CA371319476 | CHD7 | c.4783C>T (p.Gln1595Ter) c.1717-20244C>T (n.1717-20244C>T) c.2770C>T (p.Gln924Ter) c.2320C>T (p.Gln774Ter) c.1528C>T (p.Gln510Ter) | ClinVar |
| 8 | g.60841986A= | CA1788123149 | CHD7 | c.4784A= (p.Gln1595=) c.1717-20243A= (n.1717-20243A=) c.2771A= (p.Gln924=) c.2321A= (p.Gln774=) c.1529A= (p.Gln510=) | |
| 8 | g.60841986A>C | CA371319478 | CHD7 | c.4784A>C (p.Gln1595Pro) c.1717-20243A>C (n.1717-20243A>C) c.2771A>C (p.Gln924Pro) c.2321A>C (p.Gln774Pro) c.1529A>C (p.Gln510Pro) | |
| 8 | g.60841986A>G | CA371319483 | CHD7 | c.4784A>G (p.Gln1595Arg) c.1717-20243A>G (n.1717-20243A>G) c.2771A>G (p.Gln924Arg) c.2321A>G (p.Gln774Arg) c.1529A>G (p.Gln510Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841986A>T | CA371319481 | CHD7 | c.4784A>T (p.Gln1595Leu) c.1717-20243A>T (n.1717-20243A>T) c.2771A>T (p.Gln924Leu) c.2321A>T (p.Gln774Leu) c.1529A>T (p.Gln510Leu) | |
| 8 | g.60841987G>A | CA460848224 | CHD7 | c.4785G>A (p.Gln1595=) c.1717-20242G>A (n.1717-20242G>A) c.2772G>A (p.Gln924=) c.2322G>A (p.Gln774=) c.1530G>A (p.Gln510=) | dbSNP |
| 8 | g.60841987G>C | CA371319486 | CHD7 | c.4785G>C (p.Gln1595His) c.1717-20242G>C (n.1717-20242G>C) c.2772G>C (p.Gln924His) c.2322G>C (p.Gln774His) c.1530G>C (p.Gln510His) | |
| 8 | g.60841987G= | CA1788123154 | CHD7 | c.4785G= (p.Gln1595=) c.1717-20242G= (n.1717-20242G=) c.2772G= (p.Gln924=) c.2322G= (p.Gln774=) c.1530G= (p.Gln510=) | |
| 8 | g.60841987G>T | CA371319487 | CHD7 | c.4785G>T (p.Gln1595His) c.1717-20242G>T (n.1717-20242G>T) c.2772G>T (p.Gln924His) c.2322G>T (p.Gln774His) c.1530G>T (p.Gln510His) | |
| 8 | g.60841988G>A | CA371319489 | CHD7 | c.4786G>A (p.Asp1596Asn) c.1717-20241G>A (n.1717-20241G>A) c.2773G>A (p.Asp925Asn) c.2323G>A (p.Asp775Asn) c.1531G>A (p.Asp511Asn) | |
| 8 | g.60841988G>C | CA371319490 | CHD7 | c.4786G>C (p.Asp1596His) c.1717-20241G>C (n.1717-20241G>C) c.2773G>C (p.Asp925His) c.2323G>C (p.Asp775His) c.1531G>C (p.Asp511His) | |
| 8 | g.60841988G= | CA1788123158 | CHD7 | c.4786G= (p.Asp1596=) c.1717-20241G= (n.1717-20241G=) c.2773G= (p.Asp925=) c.2323G= (p.Asp775=) c.1531G= (p.Asp511=) | |
| 8 | g.60841988G>T | CA371319492 | CHD7 | c.4786G>T (p.Asp1596Tyr) c.1717-20241G>T (n.1717-20241G>T) c.2773G>T (p.Asp925Tyr) c.2323G>T (p.Asp775Tyr) c.1531G>T (p.Asp511Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841989A= | CA1788123169 | CHD7 | c.4787A= (p.Asp1596=) c.1717-20240A= (n.1717-20240A=) c.2774A= (p.Asp925=) c.2324A= (p.Asp775=) c.1532A= (p.Asp511=) | |
| 8 | g.60841989A>C | CA371319494 | CHD7 | c.4787A>C (p.Asp1596Ala) c.1717-20240A>C (n.1717-20240A>C) c.2774A>C (p.Asp925Ala) c.2324A>C (p.Asp775Ala) c.1532A>C (p.Asp511Ala) | |
| 8 | g.60841989A>G | CA16605404 | CHD7 | c.4787A>G (p.Asp1596Gly) c.1717-20240A>G (n.1717-20240A>G) c.2774A>G (p.Asp925Gly) c.2324A>G (p.Asp775Gly) c.1532A>G (p.Asp511Gly) | ClinVar dbSNP |
| 8 | g.60841989A>T | CA371319496 | CHD7 | c.4787A>T (p.Asp1596Val) c.1717-20240A>T (n.1717-20240A>T) c.2774A>T (p.Asp925Val) c.2324A>T (p.Asp775Val) c.1532A>T (p.Asp511Val) | ClinVar dbSNP |