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) | |
8 | g.60743045C>T | CA371303696 | CHD7 | n.2126C>T c.1613C>T (p.Ala538Val) c.257C>T c.14C>T (p.Ala5Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743046A>C | CA461104036 | CHD7 | n.2127A>C c.1614A>C (p.Ala538=) c.258A>C c.15A>C (p.Ala5=) | |
8 | g.60743046A>G | CA461104037 | CHD7 | n.2127A>G c.1614A>G (p.Ala538=) c.258A>G c.15A>G (p.Ala5=) | |
8 | g.60743046A>T | CA461104038 | CHD7 | n.2127A>T c.1614A>T (p.Ala538=) c.258A>T c.15A>T (p.Ala5=) | COSMIC |
8 | g.60743047C>A | CA371303698 | CHD7 | n.2128C>A c.1615C>A (p.Gln539Lys) c.259C>A c.16C>A (p.Gln6Lys) | |
8 | g.60743047C>G | CA371303702 | CHD7 | n.2128C>G c.1615C>G (p.Gln539Glu) c.259C>G c.16C>G (p.Gln6Glu) | gnomAD v4 |
8 | g.60743047C>T | CA371303700 | CHD7 | n.2128C>T c.1615C>T (p.Gln539Ter) c.259C>T c.16C>T (p.Gln6Ter) | |
8 | g.60743048A>C | CA371303704 | CHD7 | n.2129A>C c.1616A>C (p.Gln539Pro) c.260A>C c.17A>C (p.Gln6Pro) | gnomAD v4 |
8 | g.60743048A>G | CA371303706 | CHD7 | n.2129A>G c.1616A>G (p.Gln539Arg) c.260A>G c.17A>G (p.Gln6Arg) | |
8 | g.60743048A>T | CA371303707 | CHD7 | n.2129A>T c.1616A>T (p.Gln539Leu) c.260A>T c.17A>T (p.Gln6Leu) | |
8 | g.60743049G>A | CA461104041 | CHD7 | n.2130G>A c.1617G>A (p.Gln539=) c.261G>A c.18G>A (p.Gln6=) | |
8 | g.60743049G>C | CA371303710 | CHD7 | n.2130G>C c.1617G>C (p.Gln539His) c.261G>C c.18G>C (p.Gln6His) | gnomAD v4 |
8 | g.60743049G>T | CA371303711 | CHD7 | n.2130G>T c.1617G>T (p.Gln539His) c.261G>T c.18G>T (p.Gln6His) | |
8 | g.60743050C>A | CA371303713 | CHD7 | n.2131C>A c.1618C>A (p.Leu540Ile) c.262C>A c.19C>A (p.Leu7Ile) | |
8 | g.60743050C= | CA1788085562 | CHD7 | n.2131C= c.1618C= (p.Leu540=) c.262C= c.19C= (p.Leu7=) | |
8 | g.60743050C>G | CA371303715 | CHD7 | n.2131C>G c.1618C>G (p.Leu540Val) c.262C>G c.19C>G (p.Leu7Val) | |
8 | g.60743050C>T | CA371303717 | CHD7 | n.2131C>T c.1618C>T (p.Leu540Phe) c.262C>T c.19C>T (p.Leu7Phe) | dbSNP gnomAD v4 |
8 | g.60743051T>A | CA371303720 | CHD7 | n.2132T>A c.1619T>A (p.Leu540His) c.263T>A c.20T>A (p.Leu7His) | |
8 | g.60743051T>C | CA371303722 | CHD7 | n.2132T>C c.1619T>C (p.Leu540Pro) c.263T>C c.20T>C (p.Leu7Pro) | |
8 | g.60743051T>G | CA371303723 | CHD7 | n.2132T>G c.1619T>G (p.Leu540Arg) c.263T>G c.20T>G (p.Leu7Arg) | |
8 | g.60743052C>A | CA461104043 | CHD7 | n.2133C>A c.1620C>A (p.Leu540=) c.264C>A c.21C>A (p.Leu7=) | |
8 | g.60743052C>G | CA461104045 | CHD7 | n.2133C>G c.1620C>G (p.Leu540=) c.264C>G c.21C>G (p.Leu7=) | |
8 | g.60743052C>T | CA461104046 | CHD7 | n.2133C>T c.1620C>T (p.Leu540=) c.264C>T c.21C>T (p.Leu7=) | |
8 | g.60743053C>A | CA371303728 | CHD7 | n.2134C>A c.1621C>A (p.His541Asn) c.265C>A c.22C>A (p.His8Asn) | |
8 | g.60743053C>G | CA371303727 | CHD7 | n.2134C>G c.1621C>G (p.His541Asp) c.265C>G c.22C>G (p.His8Asp) | |
8 | g.60743053C>T | CA371303725 | CHD7 | n.2134C>T c.1621C>T (p.His541Tyr) c.265C>T c.22C>T (p.His8Tyr) | gnomAD v4 |
8 | g.60743054A= | CA1788085570 | CHD7 | n.2135A= c.1622A= (p.His541=) c.266A= c.23A= (p.His8=) | |
8 | g.60743054A>C | CA371303731 | CHD7 | n.2135A>C c.1622A>C (p.His541Pro) c.266A>C c.23A>C (p.His8Pro) | |
8 | g.60743054A>G | CA371303732 | CHD7 | n.2135A>G c.1622A>G (p.His541Arg) c.266A>G c.23A>G (p.His8Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60743054A>T | CA371303734 | CHD7 | n.2135A>T c.1622A>T (p.His541Leu) c.266A>T c.23A>T (p.His8Leu) | |
8 | g.60743055C>A | CA371303736 | CHD7 | n.2136C>A c.1623C>A (p.His541Gln) c.267C>A c.24C>A (p.His8Gln) | ClinVar |
8 | g.60743055C= | CA1788085584 | CHD7 | n.2136C= c.1623C= (p.His541=) c.267C= c.24C= (p.His8=) | |
8 | g.60743055C>G | CA371303738 | CHD7 | n.2136C>G c.1623C>G (p.His541Gln) c.267C>G c.24C>G (p.His8Gln) | |
8 | g.60743055C>T | CA177313652 | CHD7 | n.2136C>T c.1623C>T (p.His541=) c.267C>T c.24C>T (p.His8=) | dbSNP |
8 | g.60743056C>A | CA371303741 | CHD7 | n.2137C>A c.1624C>A (p.Pro542Thr) c.268C>A c.25C>A (p.Pro9Thr) | |
8 | g.60743056C= | CA1788085589 | CHD7 | n.2137C= c.1624C= (p.Pro542=) c.268C= c.25C= (p.Pro9=) | |
8 | g.60743056C>G | CA371303743 | CHD7 | n.2137C>G c.1624C>G (p.Pro542Ala) c.268C>G c.25C>G (p.Pro9Ala) | |
8 | g.60743056C>T | CA371303745 | CHD7 | n.2137C>T c.1624C>T (p.Pro542Ser) c.268C>T c.25C>T (p.Pro9Ser) | dbSNP gnomAD v4 |
8 | g.60743057C>A | CA371303747 | CHD7 | n.2138C>A c.1625C>A (p.Pro542Gln) c.269C>A c.26C>A (p.Pro9Gln) | |
8 | g.60743057C>G | CA371303749 | CHD7 | n.2138C>G c.1625C>G (p.Pro542Arg) c.269C>G c.26C>G (p.Pro9Arg) | |
8 | g.60743057C>T | CA371303751 | CHD7 | n.2138C>T c.1625C>T (p.Pro542Leu) c.269C>T c.26C>T (p.Pro9Leu) | |
8 | g.60743058A= | CA1788085593 | CHD7 | n.2139A= c.1626A= (p.Pro542=) c.270A= c.27A= (p.Pro9=) | |
8 | g.60743058A>C | CA461104050 | CHD7 | n.2139A>C c.1626A>C (p.Pro542=) c.270A>C c.27A>C (p.Pro9=) | |
8 | g.60743058A>G | CA4759520 | CHD7 | n.2139A>G c.1626A>G (p.Pro542=) c.270A>G c.27A>G (p.Pro9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743058A>T | CA461104052 | CHD7 | n.2139A>T c.1626A>T (p.Pro542=) c.270A>T c.27A>T (p.Pro9=) | |
8 | g.60743059T>A | CA371303757 | CHD7 | n.2140T>A c.1627T>A (p.Ser543Thr) c.271T>A c.28T>A (p.Ser10Thr) | |
8 | g.60743059T>C | CA371303759 | CHD7 | n.2140T>C c.1627T>C (p.Ser543Pro) c.271T>C c.28T>C (p.Ser10Pro) | |
8 | g.60743059T>G | CA371303755 | CHD7 | n.2140T>G c.1627T>G (p.Ser543Ala) c.271T>G c.28T>G (p.Ser10Ala) | |
8 | g.60743060C>A | CA371303761 | CHD7 | n.2141C>A c.1628C>A (p.Ser543Ter) c.272C>A c.29C>A (p.Ser10Ter) | |
8 | g.60743060C>G | CA371303762 | CHD7 | n.2141C>G c.1628C>G (p.Ser543Ter) c.272C>G c.29C>G (p.Ser10Ter) | |
8 | g.60743060C>T | CA371303763 | CHD7 | n.2141C>T c.1628C>T (p.Ser543Leu) c.272C>T c.29C>T (p.Ser10Leu) | gnomAD v4 |
8 | g.60743061A>C | CA461104055 | CHD7 | n.2142A>C c.1629A>C (p.Ser543=) c.273A>C c.30A>C (p.Ser10=) | |
8 | g.60743061A>G | CA461104056 | CHD7 | n.2142A>G c.1629A>G (p.Ser543=) c.273A>G c.30A>G (p.Ser10=) | |
8 | g.60743061A>T | CA461104057 | CHD7 | n.2142A>T c.1629A>T (p.Ser543=) c.273A>T c.30A>T (p.Ser10=) | |
8 | g.60743062C>A | CA371303764 | CHD7 | n.2143C>A c.1630C>A (p.Pro544Thr) c.274C>A c.31C>A (p.Pro11Thr) | |
8 | g.60743062C= | CA1788085600 | CHD7 | n.2143C= c.1630C= (p.Pro544=) c.274C= c.31C= (p.Pro11=) | |
8 | g.60743062C>G | CA371303765 | CHD7 | n.2143C>G c.1630C>G (p.Pro544Ala) c.274C>G c.31C>G (p.Pro11Ala) | gnomAD v4 |
8 | g.60743062C>T | CA371303766 | CHD7 | n.2143C>T c.1630C>T (p.Pro544Ser) c.274C>T c.31C>T (p.Pro11Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60743065dup | CA2573053029 | CHD7 | n.2146dup c.1633dup (p.Gln545ProfsTer30) c.1633dup (p.Gln545ProfsTer?) c.277dup c.34dup (p.Gln12ProfsTer?) | ClinVar dbSNP |
8 | g.60743063C>A | CA371303767 | CHD7 | n.2144C>A c.1631C>A (p.Pro544His) c.275C>A c.32C>A (p.Pro11His) | |
8 | g.60743063C>G | CA371303769 | CHD7 | n.2144C>G c.1631C>G (p.Pro544Arg) c.275C>G c.32C>G (p.Pro11Arg) | |
8 | g.60743063C>T | CA371303768 | CHD7 | n.2144C>T c.1631C>T (p.Pro544Leu) c.275C>T c.32C>T (p.Pro11Leu) | |
8 | g.60743064C>A | CA461104061 | CHD7 | n.2145C>A c.1632C>A (p.Pro544=) c.276C>A c.33C>A (p.Pro11=) | |
8 | g.60743064C= | CA1788085602 | CHD7 | n.2145C= c.1632C= (p.Pro544=) c.276C= c.33C= (p.Pro11=) | |
8 | g.60743064C>G | CA177313656 | CHD7 | n.2145C>G c.1632C>G (p.Pro544=) c.276C>G c.33C>G (p.Pro11=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743064C>T | CA4759521 | CHD7 | n.2145C>T c.1632C>T (p.Pro544=) c.276C>T c.33C>T (p.Pro11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743065C>A | CA371303770 | CHD7 | n.2146C>A c.1633C>A (p.Gln545Lys) c.277C>A c.34C>A (p.Gln12Lys) | |
8 | g.60743065C>G | CA371303771 | CHD7 | n.2146C>G c.1633C>G (p.Gln545Glu) c.277C>G c.34C>G (p.Gln12Glu) | |
8 | g.60743065C>T | CA371303772 | CHD7 | n.2146C>T c.1633C>T (p.Gln545Ter) c.277C>T c.34C>T (p.Gln12Ter) | ClinVar |
8 | g.60743066A= | CA1788085609 | CHD7 | n.2147A= c.1634A= (p.Gln545=) c.278A= c.35A= (p.Gln12=) | |
8 | g.60743066A>C | CA371303774 | CHD7 | n.2147A>C c.1634A>C (p.Gln545Pro) c.278A>C c.35A>C (p.Gln12Pro) | |
8 | g.60743066A>G | CA4759522 | CHD7 | n.2147A>G c.1634A>G (p.Gln545Arg) c.278A>G c.35A>G (p.Gln12Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743066A>T | CA371303773 | CHD7 | n.2147A>T c.1634A>T (p.Gln545Leu) c.278A>T c.35A>T (p.Gln12Leu) | |
8 | g.60743067G>A | CA461104063 | CHD7 | n.2148G>A c.1635G>A (p.Gln545=) c.279G>A c.36G>A (p.Gln12=) | |
8 | g.60743067G>C | CA371303776 | CHD7 | n.2148G>C c.1635G>C (p.Gln545His) c.279G>C c.36G>C (p.Gln12His) | |
8 | g.60743067G>T | CA371303775 | CHD7 | n.2148G>T c.1635G>T (p.Gln545His) c.279G>T c.36G>T (p.Gln12His) | |
8 | g.60743068A>C | CA371303778 | CHD7 | n.2149A>C c.1636A>C (p.Asn546His) c.280A>C c.37A>C (p.Asn13His) | |
8 | g.60743068A>G | CA371303777 | CHD7 | n.2149A>G c.1636A>G (p.Asn546Asp) c.280A>G c.37A>G (p.Asn13Asp) | |
8 | g.60743068A>T | CA371303779 | CHD7 | n.2149A>T c.1636A>T (p.Asn546Tyr) c.280A>T c.37A>T (p.Asn13Tyr) | |
8 | g.60743069A>C | CA371303780 | CHD7 | n.2150A>C c.1637A>C (p.Asn546Thr) c.281A>C c.38A>C (p.Asn13Thr) | |
8 | g.60743069A>G | CA371303782 | CHD7 | n.2150A>G c.1637A>G (p.Asn546Ser) c.281A>G c.38A>G (p.Asn13Ser) | |
8 | g.60743069A>T | CA371303781 | CHD7 | n.2150A>T c.1637A>T (p.Asn546Ile) c.281A>T c.38A>T (p.Asn13Ile) | |
8 | g.60743070C>A | CA371303783 | CHD7 | n.2151C>A c.1638C>A (p.Asn546Lys) c.282C>A c.39C>A (p.Asn13Lys) | |
8 | g.60743070C>G | CA371303784 | CHD7 | n.2151C>G c.1638C>G (p.Asn546Lys) c.282C>G c.39C>G (p.Asn13Lys) | |
8 | g.60743070C>T | CA461104065 | CHD7 | n.2151C>T c.1638C>T (p.Asn546=) c.282C>T c.39C>T (p.Asn13=) | |
8 | g.60743071A= | CA1788085613 | CHD7 | n.2152A= c.1639A= (p.Thr547=) c.283A= c.40A= (p.Thr14=) | |
8 | g.60743071A>C | CA371303785 | CHD7 | n.2152A>C c.1639A>C (p.Thr547Pro) c.283A>C c.40A>C (p.Thr14Pro) | ClinVar dbSNP |
8 | g.60743071A>G | CA371303787 | CHD7 | n.2152A>G c.1639A>G (p.Thr547Ala) c.283A>G c.40A>G (p.Thr14Ala) | |
8 | g.60743071A>T | CA371303786 | CHD7 | n.2152A>T c.1639A>T (p.Thr547Ser) c.283A>T c.40A>T (p.Thr14Ser) | |
8 | g.60743072C>A | CA371303788 | CHD7 | n.2153C>A c.1640C>A (p.Thr547Asn) c.284C>A c.41C>A (p.Thr14Asn) | |
8 | g.60743072C>G | CA371303789 | CHD7 | n.2153C>G c.1640C>G (p.Thr547Ser) c.284C>G c.41C>G (p.Thr14Ser) | |
8 | g.60743072C>T | CA371303790 | CHD7 | n.2153C>T c.1640C>T (p.Thr547Ile) c.284C>T c.41C>T (p.Thr14Ile) | |
8 | g.60743073C>A | CA461104067 | CHD7 | n.2154C>A c.1641C>A (p.Thr547=) c.285C>A c.42C>A (p.Thr14=) | dbSNP |
8 | g.60743073C= | CA1788085618 | CHD7 | n.2154C= c.1641C= (p.Thr547=) c.285C= c.42C= (p.Thr14=) | |
8 | g.60743073C>G | CA461104068 | CHD7 | n.2154C>G c.1641C>G (p.Thr547=) c.285C>G c.42C>G (p.Thr14=) | |
8 | g.60743073C>T | CA461104069 | CHD7 | n.2154C>T c.1641C>T (p.Thr547=) c.285C>T c.42C>T (p.Thr14=) | |
8 | g.60743074C>A | CA371303791 | CHD7 | n.2155C>A c.1642C>A (p.Pro548Thr) c.286C>A c.43C>A (p.Pro15Thr) | |
8 | g.60743074C= | CA1788085622 | CHD7 | n.2155C= c.1642C= (p.Pro548=) c.286C= c.43C= (p.Pro15=) | |
8 | g.60743074C>G | CA371303792 | CHD7 | n.2155C>G c.1642C>G (p.Pro548Ala) c.286C>G c.43C>G (p.Pro15Ala) | gnomAD v4 |
8 | g.60743074C>T | CA4759523 | CHD7 | n.2155C>T c.1642C>T (p.Pro548Ser) c.286C>T c.43C>T (p.Pro15Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60743075C>A | CA371303793 | CHD7 | n.2156C>A c.1643C>A (p.Pro548Gln) c.287C>A c.44C>A (p.Pro15Gln) | |
8 | g.60743075C= | CA1788085625 | CHD7 | n.2156C= c.1643C= (p.Pro548=) c.287C= c.44C= (p.Pro15=) | |
8 | g.60743075C>G | CA371303794 | CHD7 | n.2156C>G c.1643C>G (p.Pro548Arg) c.287C>G c.44C>G (p.Pro15Arg) | |
8 | g.60743075C>T | CA4759524 | CHD7 | n.2156C>T c.1643C>T (p.Pro548Leu) c.287C>T c.44C>T (p.Pro15Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743076G>A | CA241726 | CHD7 | n.2157G>A c.1644G>A (p.Pro548=) c.288G>A c.45G>A (p.Pro15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743076G>C | CA461104072 | CHD7 | n.2157G>C c.1644G>C (p.Pro548=) c.288G>C c.45G>C (p.Pro15=) | gnomAD v4 |
8 | g.60743076G= | CA1788085635 | CHD7 | n.2157G= c.1644G= (p.Pro548=) c.288G= c.45G= (p.Pro15=) | |
8 | g.60743076G>T | CA4759525 | CHD7 | n.2157G>T c.1644G>T (p.Pro548=) c.288G>T c.45G>T (p.Pro15=) | dbSNP ExAC gnomAD v4 |
8 | g.60743077C>A | CA371303797 | CHD7 | n.2158C>A c.1645C>A (p.Gln549Lys) c.289C>A c.46C>A (p.Gln16Lys) | |
8 | g.60743077C>G | CA371303795 | CHD7 | n.2158C>G c.1645C>G (p.Gln549Glu) c.289C>G c.46C>G (p.Gln16Glu) | |
8 | g.60743077C>T | CA371303796 | CHD7 | n.2158C>T c.1645C>T (p.Gln549Ter) c.289C>T c.46C>T (p.Gln16Ter) | |
8 | g.60743078A>C | CA371303798 | CHD7 | n.2159A>C c.1646A>C (p.Gln549Pro) c.290A>C c.47A>C (p.Gln16Pro) | |
8 | g.60743078A>G | CA371303799 | CHD7 | n.2159A>G c.1646A>G (p.Gln549Arg) c.290A>G c.47A>G (p.Gln16Arg) | ClinVar dbSNP |
8 | g.60743078A>T | CA371303800 | CHD7 | n.2159A>T c.1646A>T (p.Gln549Leu) c.290A>T c.47A>T (p.Gln16Leu) | |
8 | g.60743079G>A | CA461104073 | CHD7 | n.2160G>A c.1647G>A (p.Gln549=) c.291G>A c.48G>A (p.Gln16=) | |
8 | g.60743079G>C | CA371303801 | CHD7 | n.2160G>C c.1647G>C (p.Gln549His) c.291G>C c.48G>C (p.Gln16His) | |
8 | g.60743079G>T | CA371303802 | CHD7 | n.2160G>T c.1647G>T (p.Gln549His) c.291G>T c.48G>T (p.Gln16His) | |
8 | g.60743080A>C | CA371303803 | CHD7 | n.2161A>C c.1648A>C (p.Lys550Gln) c.292A>C c.49A>C (p.Lys17Gln) | |
8 | g.60743080A>G | CA371303804 | CHD7 | n.2161A>G c.1648A>G (p.Lys550Glu) c.292A>G c.49A>G (p.Lys17Glu) | |
8 | g.60743080A>T | CA371303805 | CHD7 | n.2161A>T c.1648A>T (p.Lys550Ter) c.292A>T c.49A>T (p.Lys17Ter) | |
8 | g.60743081A>C | CA371303806 | CHD7 | n.2162A>C c.1649A>C (p.Lys550Thr) c.293A>C c.50A>C (p.Lys17Thr) | |
8 | g.60743081A>G | CA371303807 | CHD7 | n.2162A>G c.1649A>G (p.Lys550Arg) c.293A>G c.50A>G (p.Lys17Arg) | |
8 | g.60743081A>T | CA371303808 | CHD7 | n.2162A>T c.1649A>T (p.Lys550Ile) c.293A>T c.50A>T (p.Lys17Ile) | |
8 | g.60743082A>C | CA371303809 | CHD7 | n.2163A>C c.1650A>C (p.Lys550Asn) c.294A>C c.51A>C (p.Lys17Asn) | |
8 | g.60743082A>G | CA461104078 | CHD7 | n.2163A>G c.1650A>G (p.Lys550=) c.294A>G c.51A>G (p.Lys17=) | |
8 | g.60743082A>T | CA371303810 | CHD7 | n.2163A>T c.1650A>T (p.Lys550Asn) c.294A>T c.51A>T (p.Lys17Asn) | |
8 | g.60743083G>A | CA371303811 | CHD7 | n.2164G>A c.1651G>A (p.Val551Met) c.295G>A c.52G>A (p.Val18Met) | |
8 | g.60743083G>C | CA371303812 | CHD7 | n.2164G>C c.1651G>C (p.Val551Leu) c.295G>C c.52G>C (p.Val18Leu) | |
8 | g.60743083G>T | CA371303813 | CHD7 | n.2164G>T c.1651G>T (p.Val551Leu) c.295G>T c.52G>T (p.Val18Leu) | gnomAD v4 |
8 | g.60743084T>A | CA371303814 | CHD7 | n.2165T>A c.1652T>A (p.Val551Glu) c.296T>A c.53T>A (p.Val18Glu) | |
8 | g.60743084T>C | CA371303815 | CHD7 | n.2165T>C c.1652T>C (p.Val551Ala) c.296T>C c.53T>C (p.Val18Ala) | |
8 | g.60743084T>G | CA371303816 | CHD7 | n.2165T>G c.1652T>G (p.Val551Gly) c.296T>G c.53T>G (p.Val18Gly) | |
8 | g.60743085G>A | CA4759526 | CHD7 | n.2166G>A c.1653G>A (p.Val551=) c.297G>A c.54G>A (p.Val18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60743085G>C | CA461104081 | CHD7 | n.2166G>C c.1653G>C (p.Val551=) c.297G>C c.54G>C (p.Val18=) | |
8 | g.60743085G= | CA1788085643 | CHD7 | n.2166G= c.1653G= (p.Val551=) c.297G= c.54G= (p.Val18=) | |
8 | g.60743085G>T | CA461104082 | CHD7 | n.2166G>T c.1653G>T (p.Val551=) c.297G>T c.54G>T (p.Val18=) | COSMIC |
8 | g.60743086C>A | CA371303817 | CHD7 | n.2167C>A c.1654C>A (p.Pro552Thr) c.298C>A c.55C>A (p.Pro19Thr) | |
8 | g.60743086C>G | CA371303818 | CHD7 | n.2167C>G c.1654C>G (p.Pro552Ala) c.298C>G c.55C>G (p.Pro19Ala) | |
8 | g.60743086C>T | CA371303819 | CHD7 | n.2167C>T c.1654C>T (p.Pro552Ser) c.298C>T c.55C>T (p.Pro19Ser) | ClinVar gnomAD v4 |
8 | g.60743087C>A | CA371303820 | CHD7 | n.2168C>A c.1655C>A (p.Pro552His) c.299C>A c.56C>A (p.Pro19His) | |
8 | g.60743087C>G | CA371303821 | CHD7 | n.2168C>G c.1655C>G (p.Pro552Arg) c.299C>G c.56C>G (p.Pro19Arg) | |
8 | g.60743087C>T | CA371303822 | CHD7 | n.2168C>T c.1655C>T (p.Pro552Leu) c.299C>T c.56C>T (p.Pro19Leu) | |
8 | g.60743088T>A | CA461104083 | CHD7 | n.2169T>A c.1656T>A (p.Pro552=) c.300T>A c.57T>A (p.Pro19=) | |
8 | g.60743088T>C | CA461104084 | CHD7 | n.2169T>C c.1656T>C (p.Pro552=) c.300T>C c.57T>C (p.Pro19=) | |
8 | g.60743088T>G | CA461104085 | CHD7 | n.2169T>G c.1656T>G (p.Pro552=) c.300T>G c.57T>G (p.Pro19=) | |
8 | g.60743089G>A | CA371303823 | CHD7 | n.2170G>A c.1657G>A (p.Val553Met) c.301G>A c.58G>A (p.Val20Met) | |
8 | g.60743089G>C | CA371303824 | CHD7 | n.2170G>C c.1657G>C (p.Val553Leu) c.301G>C c.58G>C (p.Val20Leu) | gnomAD v4 |
8 | g.60743089G= | CA1788085655 | CHD7 | n.2170G= c.1657G= (p.Val553=) c.301G= c.58G= (p.Val20=) | |
8 | g.60743089G>T | CA4759527 | CHD7 | n.2170G>T c.1657G>T (p.Val553Leu) c.301G>T c.58G>T (p.Val20Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60743090T>A | CA371303825 | CHD7 | n.2171T>A c.1658T>A (p.Val553Glu) c.302T>A c.59T>A (p.Val20Glu) | |
8 | g.60743090T>C | CA371303826 | CHD7 | n.2171T>C c.1658T>C (p.Val553Ala) c.302T>C c.59T>C (p.Val20Ala) | |
8 | g.60743090T>G | CA371303827 | CHD7 | n.2171T>G c.1658T>G (p.Val553Gly) c.302T>G c.59T>G (p.Val20Gly) | |
8 | g.60743091G>A | CA461104089 | CHD7 | n.2172G>A c.1659G>A (p.Val553=) c.303G>A c.60G>A (p.Val20=) | |
8 | g.60743091G>C | CA461104088 | CHD7 | n.2172G>C c.1659G>C (p.Val553=) c.303G>C c.60G>C (p.Val20=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743091G= | CA1788085663 | CHD7 | n.2172G= c.1659G= (p.Val553=) c.303G= c.60G= (p.Val20=) | |
8 | g.60743091G>T | CA461104087 | CHD7 | n.2172G>T c.1659G>T (p.Val553=) c.303G>T c.60G>T (p.Val20=) | gnomAD v4 |
8 | g.60743092C>A | CA371303828 | CHD7 | n.2173C>A c.1660C>A (p.His554Asn) c.304C>A c.61C>A (p.His21Asn) | |
8 | g.60743092C>G | CA371303829 | CHD7 | n.2173C>G c.1660C>G (p.His554Asp) c.304C>G c.61C>G (p.His21Asp) | |
8 | g.60743092C>T | CA371303830 | CHD7 | n.2173C>T c.1660C>T (p.His554Tyr) c.304C>T c.61C>T (p.His21Tyr) | |
8 | g.60743093A= | CA1788085670 | CHD7 | n.2174A= c.1661A= (p.His554=) c.305A= c.62A= (p.His21=) | |
8 | g.60743093A>C | CA371303831 | CHD7 | n.2174A>C c.1661A>C (p.His554Pro) c.305A>C c.62A>C (p.His21Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743093A>G | CA371303832 | CHD7 | n.2174A>G c.1661A>G (p.His554Arg) c.305A>G c.62A>G (p.His21Arg) | |
8 | g.60743093A>T | CA371303833 | CHD7 | n.2174A>T c.1661A>T (p.His554Leu) c.305A>T c.62A>T (p.His21Leu) | |
8 | g.60743094T>A | CA371303834 | CHD7 | n.2175T>A c.1662T>A (p.His554Gln) c.306T>A c.63T>A (p.His21Gln) | |
8 | g.60743094T>C | CA461104090 | CHD7 | n.2175T>C c.1662T>C (p.His554=) c.306T>C c.63T>C (p.His21=) | |
8 | g.60743094T>G | CA371303835 | CHD7 | n.2175T>G c.1662T>G (p.His554Gln) c.306T>G c.63T>G (p.His21Gln) | |
8 | g.60743095C>A | CA4759528 | CHD7 | n.2176C>A c.1663C>A (p.Gln555Lys) c.307C>A c.64C>A (p.Gln22Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743095C= | CA1788085678 | CHD7 | n.2176C= c.1663C= (p.Gln555=) c.307C= c.64C= (p.Gln22=) | |
8 | g.60743095C>G | CA371303837 | CHD7 | n.2176C>G c.1663C>G (p.Gln555Glu) c.307C>G c.64C>G (p.Gln22Glu) | |
8 | g.60743095C>T | CA371303836 | CHD7 | n.2176C>T c.1663C>T (p.Gln555Ter) c.307C>T c.64C>T (p.Gln22Ter) | ClinVar COSMIC |
8 | g.60743096A>C | CA371303840 | CHD7 | n.2177A>C c.1664A>C (p.Gln555Pro) c.308A>C c.65A>C (p.Gln22Pro) | |
8 | g.60743096A>G | CA371303838 | CHD7 | n.2177A>G c.1664A>G (p.Gln555Arg) c.308A>G c.65A>G (p.Gln22Arg) | gnomAD v4 |
8 | g.60743096A>T | CA371303839 | CHD7 | n.2177A>T c.1664A>T (p.Gln555Leu) c.308A>T c.65A>T (p.Gln22Leu) | |
8 | g.60743096_60743097insAG | CA2695209585 | CHD7 | n.2177_2178insAG c.1664_1665insAG (p.His556GlyfsTer9) c.308_309insAG c.65_66insAG (p.His23GlyfsTer9) | |
8 | g.60743097G>A | CA461104094 | CHD7 | n.2178G>A c.1665G>A (p.Gln555=) c.309G>A c.66G>A (p.Gln22=) | |
8 | g.60743097G>C | CA371303841 | CHD7 | n.2178G>C c.1665G>C (p.Gln555His) c.309G>C c.66G>C (p.Gln22His) | |
8 | g.60743097G>T | CA371303842 | CHD7 | n.2178G>T c.1665G>T (p.Gln555His) c.309G>T c.66G>T (p.Gln22His) | |
8 | g.60743098G>A | CA371303843 | CHD7 | n.2178+1G>A c.1665+1G>A (n.1665+1G>A) c.309+1G>A c.66+1G>A (n.66+1G>A) | |
8 | g.60743098G>C | CA371303844 | CHD7 | n.2178+1G>C c.1665+1G>C (n.1665+1G>C) c.309+1G>C c.66+1G>C (n.66+1G>C) | |
8 | g.60743098G>T | CA371303845 | CHD7 | n.2178+1G>T c.1665+1G>T (n.1665+1G>T) c.309+1G>T c.66+1G>T (n.66+1G>T) | |
8 | g.60743099T>A | CA371303846 | CHD7 | n.2178+2T>A c.1665+2T>A (n.1665+2T>A) c.309+2T>A c.66+2T>A (n.66+2T>A) | |
8 | g.60743099T>C | CA371303847 | CHD7 | n.2178+2T>C c.1665+2T>C (n.1665+2T>C) c.309+2T>C c.66+2T>C (n.66+2T>C) | |
8 | g.60743099T>G | CA371303848 | CHD7 | n.2178+2T>G c.1665+2T>G (n.1665+2T>G) c.309+2T>G c.66+2T>G (n.66+2T>G) | |
8 | g.60743101A>G | CA2687395203 | CHD7 | n.2178+4A>G c.1665+4A>G (n.1665+4A>G) c.309+4A>G c.66+4A>G (n.66+4A>G) | gnomAD v4 |
8 | g.60743101A>T | CA2687395204 | CHD7 | n.2178+4A>T c.1665+4A>T (n.1665+4A>T) c.309+4A>T c.66+4A>T (n.66+4A>T) | gnomAD v4 |
8 | g.60743102G>T | CA2687395206 | CHD7 | n.2178+5G>T c.1665+5G>T (n.1665+5G>T) c.309+5G>T c.66+5G>T (n.66+5G>T) | gnomAD v4 |
8 | g.60743105del | CA2687395205 | CHD7 | n.2178+8del c.1665+8del (n.1665+8del) c.309+8del c.66+8del (n.66+8del) | gnomAD v4 |
8 | g.60743103G>T | CA2687395207 | CHD7 | n.2178+6G>T c.1665+6G>T (n.1665+6G>T) c.309+6G>T c.66+6G>T (n.66+6G>T) | gnomAD v4 |
8 | g.60743104G>A | CA581967069 | CHD7 | n.2178+7G>A c.1665+7G>A (n.1665+7G>A) c.309+7G>A c.66+7G>A (n.66+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743104G= | CA1788085685 | CHD7 | n.2178+7G= c.1665+7G= (n.1665+7G=) c.309+7G= c.66+7G= (n.66+7G=) | |
8 | g.60743104G>T | CA2687395208 | CHD7 | n.2178+7G>T c.1665+7G>T (n.1665+7G>T) c.309+7G>T c.66+7G>T (n.66+7G>T) | gnomAD v4 |
8 | g.60743105G= | CA1788085687 | CHD7 | n.2178+8G= c.1665+8G= (n.1665+8G=) c.309+8G= c.66+8G= (n.66+8G=) | |
8 | g.60743105G>T | CA177313709 | CHD7 | n.2178+8G>T c.1665+8G>T (n.1665+8G>T) c.309+8G>T c.66+8G>T (n.66+8G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743107C>A | CA2687395210 | CHD7 | n.2178+10C>A c.1665+10C>A (n.1665+10C>A) c.309+10C>A c.66+10C>A (n.66+10C>A) | gnomAD v4 |
8 | g.60743107C= | CA1788085692 | CHD7 | n.2178+10C= c.1665+10C= (n.1665+10C=) c.309+10C= c.66+10C= (n.66+10C=) | |
8 | g.60743107C>G | CA1788085694 | CHD7 | n.2178+10C>G c.1665+10C>G (n.1665+10C>G) c.309+10C>G c.66+10C>G (n.66+10C>G) | ClinVar dbSNP gnomAD v4 |
8 | g.60743107C>T | CA2687395209 | CHD7 | n.2178+10C>T c.1665+10C>T (n.1665+10C>T) c.309+10C>T c.66+10C>T (n.66+10C>T) | gnomAD v4 |
8 | g.60743109C>A | CA2687395211 | CHD7 | n.2178+12C>A c.1665+12C>A (n.1665+12C>A) c.309+12C>A c.66+12C>A (n.66+12C>A) | gnomAD v4 |
8 | g.60743109C= | CA1788085695 | CHD7 | n.2178+12C= c.1665+12C= (n.1665+12C=) c.309+12C= c.66+12C= (n.66+12C=) | |
8 | g.60743109C>T | CA1788085697 | CHD7 | n.2178+12C>T c.1665+12C>T (n.1665+12C>T) c.309+12C>T c.66+12C>T (n.66+12C>T) | dbSNP |
8 | g.60743110A>G | CA2687395212 | CHD7 | n.2178+13A>G c.1665+13A>G (n.1665+13A>G) c.309+13A>G c.66+13A>G (n.66+13A>G) | gnomAD v4 |
8 | g.60743111G>C | CA4759529 | CHD7 | n.2178+14G>C c.1665+14G>C (n.1665+14G>C) c.309+14G>C c.66+14G>C (n.66+14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743111G= | CA1788085700 | CHD7 | n.2178+14G= c.1665+14G= (n.1665+14G=) c.309+14G= c.66+14G= (n.66+14G=) | |
8 | g.60743111G>T | CA2687395213 | CHD7 | n.2178+14G>T c.1665+14G>T (n.1665+14G>T) c.309+14G>T c.66+14G>T (n.66+14G>T) | gnomAD v4 |
8 | g.60743113G>A | CA2573143247 | CHD7 | n.2178+16G>A c.1665+16G>A (n.1665+16G>A) c.309+16G>A c.66+16G>A (n.66+16G>A) | ClinVar dbSNP |
8 | g.60743113G>C | CA2780519630 | CHD7 | n.2178+16G>C c.1665+16G>C (n.1665+16G>C) c.309+16G>C c.66+16G>C (n.66+16G>C) | |
8 | g.60743114C>A | CA2687395214 | CHD7 | n.2178+17C>A c.1665+17C>A (n.1665+17C>A) c.309+17C>A c.66+17C>A (n.66+17C>A) | gnomAD v4 |
8 | g.60743114C= | CA1788085703 | CHD7 | n.2178+17C= c.1665+17C= (n.1665+17C=) c.309+17C= c.66+17C= (n.66+17C=) | |
8 | g.60743114C>T | CA4759530 | CHD7 | n.2178+17C>T c.1665+17C>T (n.1665+17C>T) c.309+17C>T c.66+17C>T (n.66+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743115C>A | CA2579173294 | CHD7 | n.2178+18C>A c.1665+18C>A (n.1665+18C>A) c.309+18C>A c.66+18C>A (n.66+18C>A) | gnomAD v4 |
8 | g.60743115C= | CA1788085708 | CHD7 | n.2178+18C= c.1665+18C= (n.1665+18C=) c.309+18C= c.66+18C= (n.66+18C=) | |
8 | g.60743115C>G | CA853921157 | CHD7 | n.2178+18C>G c.1665+18C>G (n.1665+18C>G) c.309+18C>G c.66+18C>G (n.66+18C>G) | dbSNP |
8 | g.60743116T>C | CA1788085716 | CHD7 | n.2178+19T>C c.1665+19T>C (n.1665+19T>C) c.309+19T>C c.66+19T>C (n.66+19T>C) | dbSNP gnomAD v4 |
8 | g.60743116T= | CA1788085713 | CHD7 | n.2178+19T= c.1665+19T= (n.1665+19T=) c.309+19T= c.66+19T= (n.66+19T=) | |
8 | g.60743117A= | CA1788085720 | CHD7 | n.2178+20A= c.1665+20A= (n.1665+20A=) c.309+20A= c.66+20A= (n.66+20A=) | |
8 | g.60743117A>C | CA4759531 | CHD7 | n.2178+20A>C c.1665+20A>C (n.1665+20A>C) c.309+20A>C c.66+20A>C (n.66+20A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743117A>G | CA581967072 | CHD7 | n.2178+20A>G c.1665+20A>G (n.1665+20A>G) c.309+20A>G c.66+20A>G (n.66+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743118C>A | CA2579173295 | CHD7 | n.2178+21C>A c.1665+21C>A (n.1665+21C>A) c.309+21C>A c.66+21C>A (n.66+21C>A) | gnomAD v4 |
8 | g.60743118C= | CA1788085722 | CHD7 | n.2178+21C= c.1665+21C= (n.1665+21C=) c.309+21C= c.66+21C= (n.66+21C=) | |
8 | g.60743118C>T | CA581967074 | CHD7 | n.2178+21C>T c.1665+21C>T (n.1665+21C>T) c.309+21C>T c.66+21C>T (n.66+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60743119C>A | CA2687395215 | CHD7 | n.2178+22C>A c.1665+22C>A (n.1665+22C>A) c.309+22C>A c.66+22C>A (n.66+22C>A) | gnomAD v4 |
8 | g.60743119C= | CA1788085724 | CHD7 | n.2178+22C= c.1665+22C= (n.1665+22C=) c.309+22C= c.66+22C= (n.66+22C=) | |
8 | g.60743119C>T | CA4759532 | CHD7 | n.2178+22C>T c.1665+22C>T (n.1665+22C>T) c.309+22C>T c.66+22C>T (n.66+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743120T>A | CA2687395216 | CHD7 | n.2178+23T>A c.1665+23T>A (n.1665+23T>A) c.309+23T>A c.66+23T>A (n.66+23T>A) | gnomAD v4 |
8 | g.60743120T>C | CA2687395217 | CHD7 | n.2178+23T>C c.1665+23T>C (n.1665+23T>C) c.309+23T>C c.66+23T>C (n.66+23T>C) | gnomAD v4 |
8 | g.60743121C>A | CA2687395218 | CHD7 | n.2178+24C>A c.1665+24C>A (n.1665+24C>A) c.309+24C>A c.66+24C>A (n.66+24C>A) | gnomAD v4 |
8 | g.60743121C= | CA1788085742 | CHD7 | n.2178+24C= c.1665+24C= (n.1665+24C=) c.309+24C= c.66+24C= (n.66+24C=) | |
8 | g.60743121C>G | CA2687395219 | CHD7 | n.2178+24C>G c.1665+24C>G (n.1665+24C>G) c.309+24C>G c.66+24C>G (n.66+24C>G) | gnomAD v4 |
8 | g.60743121C>T | CA4759533 | CHD7 | n.2178+24C>T c.1665+24C>T (n.1665+24C>T) c.309+24C>T c.66+24C>T (n.66+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743123G= | CA1788085753 | CHD7 | n.2178+26G= c.1665+26G= (n.1665+26G=) c.309+26G= c.66+26G= (n.66+26G=) | |
8 | g.60743123G>T | CA4759534 | CHD7 | n.2178+26G>T c.1665+26G>T (n.1665+26G>T) c.309+26G>T c.66+26G>T (n.66+26G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60743124C>A | CA2687395221 | CHD7 | n.2178+27C>A c.1665+27C>A (n.1665+27C>A) c.309+27C>A c.66+27C>A (n.66+27C>A) | gnomAD v4 |
8 | g.60743124C= | CA1788085762 | CHD7 | n.2178+27C= c.1665+27C= (n.1665+27C=) c.309+27C= c.66+27C= (n.66+27C=) | |
8 | g.60743124C>T | CA4759535 | CHD7 | n.2178+27C>T c.1665+27C>T (n.1665+27C>T) c.309+27C>T c.66+27C>T (n.66+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60743129_60743130insCATGTTGAATTTCACATTGC | CA2687395220 | CHD7 | n.2178+32_2178+33insCATGTTGAATTTCACATTGC c.1665+32_1665+33insCATGTTGAATTTCACATTGC (n.1665+32_1665+33insCATGTTGAATTTCACATTGC) c.309+32_309+33insCATGTTGAATTTCACATTGC c.66+32_66+33insCATGTTGAATTTCACATTGC (n.66+32_66+33insCATGTTGAATTTCACATTGC) | gnomAD v4 |
8 | g.60743125A= | CA1788085768 | CHD7 | n.2178+28A= c.1665+28A= (n.1665+28A=) c.309+28A= c.66+28A= (n.66+28A=) | |
8 | g.60743125A>G | CA1788085769 | CHD7 | n.2178+28A>G c.1665+28A>G (n.1665+28A>G) c.309+28A>G c.66+28A>G (n.66+28A>G) | dbSNP gnomAD v4 |
8 | g.60743126T>C | CA4759536 | CHD7 | n.2178+29T>C c.1665+29T>C (n.1665+29T>C) c.309+29T>C c.66+29T>C (n.66+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743126T= | CA1788085771 | CHD7 | n.2178+29T= c.1665+29T= (n.1665+29T=) c.309+29T= c.66+29T= (n.66+29T=) | |
8 | g.60743129C>A | CA2579173296 | CHD7 | n.2178+32C>A c.1665+32C>A (n.1665+32C>A) c.309+32C>A c.66+32C>A (n.66+32C>A) | gnomAD v4 |
8 | g.60743129C>T | CA2687395222 | CHD7 | n.2178+32C>T c.1665+32C>T (n.1665+32C>T) c.309+32C>T c.66+32C>T (n.66+32C>T) | gnomAD v4 |
8 | g.60743130A>C | CA2687395223 | CHD7 | n.2178+33A>C c.1665+33A>C (n.1665+33A>C) c.309+33A>C c.66+33A>C (n.66+33A>C) | gnomAD v4 |
8 | g.60743130A>G | CA2687395224 | CHD7 | n.2178+33A>G c.1665+33A>G (n.1665+33A>G) c.309+33A>G c.66+33A>G (n.66+33A>G) | gnomAD v4 |
8 | g.60743130_60743131insAT | CA2687395226 | CHD7 | n.2178+33_2178+34insAT c.1665+33_1665+34insAT (n.1665+33_1665+34insAT) c.309+33_309+34insAT c.66+33_66+34insAT (n.66+33_66+34insAT) | gnomAD v4 |
8 | g.60743131G>A | CA171773 | CHD7 | n.2178+34G>A c.1665+34G>A (n.1665+34G>A) c.309+34G>A c.66+34G>A (n.66+34G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60743131G>C | CA853921188 | CHD7 | n.2178+34G>C c.1665+34G>C (n.1665+34G>C) c.309+34G>C c.66+34G>C (n.66+34G>C) | dbSNP gnomAD v4 |
8 | g.60743131G= | CA1788085778 | CHD7 | n.2178+34G= c.1665+34G= (n.1665+34G=) c.309+34G= c.66+34G= (n.66+34G=) | |
8 | g.60743131G>T | CA2580823413 | CHD7 | n.2178+34G>T c.1665+34G>T (n.1665+34G>T) c.309+34G>T c.66+34G>T (n.66+34G>T) | gnomAD v4 |
8 | g.60743134_60743135del | CA2687395225 | CHD7 | n.2178+37_2178+38del c.1665+37_1665+38del (n.1665+37_1665+38del) c.309+37_309+38del c.66+37_66+38del (n.66+37_66+38del) | gnomAD v4 |