| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60743031T>A | CA371303622 | CHD7 | n.2112T>A c.1599T>A (p.His533Gln) c.243T>A | |
| 8 | g.60743031T>C | CA461104019 | CHD7 | n.2112T>C c.1599T>C (p.His533=) c.243T>C | |
| 8 | g.60743031T>G | CA371303624 | CHD7 | n.2112T>G c.1599T>G (p.His533Gln) c.243T>G | |
| 8 | g.60743032C>A | CA371303626 | CHD7 | n.2113C>A c.1600C>A (p.His534Asn) c.244C>A c.1C>A (p.His1Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60743032C= | CA1788085512 | CHD7 | n.2113C= c.1600C= (p.His534=) c.244C= c.1C= (p.His1=) | |
| 8 | g.60743032C>G | CA371303628 | CHD7 | n.2113C>G c.1600C>G (p.His534Asp) c.244C>G c.1C>G (p.His1Asp) | |
| 8 | g.60743032C>T | CA371303630 | CHD7 | n.2113C>T c.1600C>T (p.His534Tyr) c.244C>T c.1C>T (p.His1Tyr) | gnomAD v4 |
| 8 | g.60743033A>C | CA371303635 | CHD7 | n.2114A>C c.1601A>C (p.His534Pro) c.245A>C c.2A>C (p.His1Pro) | |
| 8 | g.60743033A>G | CA371303634 | CHD7 | n.2114A>G c.1601A>G (p.His534Arg) c.245A>G c.2A>G (p.His1Arg) | gnomAD v4 |
| 8 | g.60743033A>T | CA371303632 | CHD7 | n.2114A>T c.1601A>T (p.His534Leu) c.245A>T c.2A>T (p.His1Leu) | |
| 8 | g.60743034C>A | CA371303638 | CHD7 | n.2115C>A c.1602C>A (p.His534Gln) c.246C>A c.3C>A (p.His1Gln) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60743034C= | CA1788085520 | CHD7 | n.2115C= c.1602C= (p.His534=) c.246C= c.3C= (p.His1=) | |
| 8 | g.60743034C>G | CA371303640 | CHD7 | n.2115C>G c.1602C>G (p.His534Gln) c.246C>G c.3C>G (p.His1Gln) | gnomAD v4 |
| 8 | g.60743034C>T | CA461104023 | CHD7 | n.2115C>T c.1602C>T (p.His534=) c.246C>T c.3C>T (p.His1=) | dbSNP |
| 8 | g.60743035C>A | CA4759519 | CHD7 | n.2116C>A c.1603C>A (p.Gln535Lys) c.247C>A c.4C>A (p.Gln2Lys) | dbSNP ExAC |
| 8 | g.60743035C= | CA1788085526 | CHD7 | n.2116C= c.1603C= (p.Gln535=) c.247C= c.4C= (p.Gln2=) | |
| 8 | g.60743035C>G | CA371303644 | CHD7 | n.2116C>G c.1603C>G (p.Gln535Glu) c.247C>G c.4C>G (p.Gln2Glu) | |
| 8 | g.60743035C>T | CA371303646 | CHD7 | n.2116C>T c.1603C>T (p.Gln535Ter) c.247C>T c.4C>T (p.Gln2Ter) | ClinVar dbSNP |
| 8 | g.60743036A= | CA1788085534 | CHD7 | n.2117A= c.1604A= (p.Gln535=) c.248A= c.5A= (p.Gln2=) | |
| 8 | g.60743036A>C | CA371303648 | CHD7 | n.2117A>C c.1604A>C (p.Gln535Pro) c.248A>C c.5A>C (p.Gln2Pro) | |
| 8 | g.60743036A>G | CA371303650 | CHD7 | n.2117A>G c.1604A>G (p.Gln535Arg) c.248A>G c.5A>G (p.Gln2Arg) | |
| 8 | g.60743036A>T | CA371303652 | CHD7 | n.2117A>T c.1604A>T (p.Gln535Leu) c.248A>T c.5A>T (p.Gln2Leu) | ClinVar dbSNP |
| 8 | g.60743037G>A | CA461104025 | CHD7 | n.2118G>A c.1605G>A (p.Gln535=) c.249G>A c.6G>A (p.Gln2=) | |
| 8 | g.60743037G>C | CA371303654 | CHD7 | n.2118G>C c.1605G>C (p.Gln535His) c.249G>C c.6G>C (p.Gln2His) | |
| 8 | g.60743037G>T | CA371303656 | CHD7 | n.2118G>T c.1605G>T (p.Gln535His) c.249G>T c.6G>T (p.Gln2His) | |
| 8 | g.60743038C>A | CA371303658 | CHD7 | n.2119C>A c.1606C>A (p.Pro536Thr) c.250C>A c.7C>A (p.Pro3Thr) | |
| 8 | g.60743038C>G | CA371303660 | CHD7 | n.2119C>G c.1606C>G (p.Pro536Ala) c.250C>G c.7C>G (p.Pro3Ala) | |
| 8 | g.60743038C>T | CA371303662 | CHD7 | n.2119C>T c.1606C>T (p.Pro536Ser) c.250C>T c.7C>T (p.Pro3Ser) | |
| 8 | g.60743039C>A | CA371303666 | CHD7 | n.2120C>A c.1607C>A (p.Pro536His) c.251C>A c.8C>A (p.Pro3His) | |
| 8 | g.60743039C>G | CA371303668 | CHD7 | n.2120C>G c.1607C>G (p.Pro536Arg) c.251C>G c.8C>G (p.Pro3Arg) | |
| 8 | g.60743039C>T | CA371303664 | CHD7 | n.2120C>T c.1607C>T (p.Pro536Leu) c.251C>T c.8C>T (p.Pro3Leu) | |
| 8 | g.60743040T>A | CA461104029 | CHD7 | n.2121T>A c.1608T>A (p.Pro536=) c.252T>A c.9T>A (p.Pro3=) | |
| 8 | g.60743040T>C | CA461104030 | CHD7 | n.2121T>C c.1608T>C (p.Pro536=) c.252T>C c.9T>C (p.Pro3=) | |
| 8 | g.60743040T>G | CA461104031 | CHD7 | n.2121T>G c.1608T>G (p.Pro536=) c.252T>G c.9T>G (p.Pro3=) | |
| 8 | g.60743041T>A | CA371303674 | CHD7 | n.2122T>A c.1609T>A (p.Trp537Arg) c.253T>A c.10T>A (p.Trp4Arg) | |
| 8 | g.60743041T>C | CA371303670 | CHD7 | n.2122T>C c.1609T>C (p.Trp537Arg) c.253T>C c.10T>C (p.Trp4Arg) | |
| 8 | g.60743041T>G | CA371303672 | CHD7 | n.2122T>G c.1609T>G (p.Trp537Gly) c.253T>G c.10T>G (p.Trp4Gly) | |
| 8 | g.60743042G>A | CA371303676 | CHD7 | n.2123G>A c.1610G>A (p.Trp537Ter) c.254G>A c.11G>A (p.Trp4Ter) | |
| 8 | g.60743042G>C | CA371303678 | CHD7 | n.2123G>C c.1610G>C (p.Trp537Ser) c.254G>C c.11G>C (p.Trp4Ser) | |
| 8 | g.60743042G>T | CA371303679 | CHD7 | n.2123G>T c.1610G>T (p.Trp537Leu) c.254G>T c.11G>T (p.Trp4Leu) | |
| 8 | g.60743042_60743043insA | CA2695209582 | CHD7 | n.2123_2124insA c.1610_1611insA (p.Trp537Ter) c.254_255insA c.11_12insA (p.Trp4Ter) | |
| 8 | g.60743043G>A | CA371303685 | CHD7 | n.2124G>A c.1611G>A (p.Trp537Ter) c.255G>A c.12G>A (p.Trp4Ter) | |
| 8 | g.60743043G>C | CA371303683 | CHD7 | n.2124G>C c.1611G>C (p.Trp537Cys) c.255G>C c.12G>C (p.Trp4Cys) | |
| 8 | g.60743043G>T | CA371303681 | CHD7 | n.2124G>T c.1611G>T (p.Trp537Cys) c.255G>T c.12G>T (p.Trp4Cys) | |
| 8 | g.60743044G>A | CA371303687 | CHD7 | n.2125G>A c.1612G>A (p.Ala538Thr) c.256G>A c.13G>A (p.Ala5Thr) | |
| 8 | g.60743044G>C | CA371303689 | CHD7 | n.2125G>C c.1612G>C (p.Ala538Pro) c.256G>C c.13G>C (p.Ala5Pro) | |
| 8 | g.60743044G>T | CA371303691 | CHD7 | n.2125G>T c.1612G>T (p.Ala538Ser) c.256G>T c.13G>T (p.Ala5Ser) | |
| 8 | g.60743045C>A | CA371303693 | CHD7 | n.2126C>A c.1613C>A (p.Ala538Glu) c.257C>A c.14C>A (p.Ala5Glu) | dbSNP |
| 8 | g.60743045C= | CA1788085554 | CHD7 | n.2126C= c.1613C= (p.Ala538=) c.257C= c.14C= (p.Ala5=) | |
| 8 | g.60743045C>G | CA371303694 | CHD7 | n.2126C>G c.1613C>G (p.Ala538Gly) c.257C>G c.14C>G (p.Ala5Gly) |