| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60853017del | CA16609837 | CHD7 | c.6292del (p.Arg2098GlufsTer?) c.1717-9212del (n.1717-9212del) c.6382del (p.Arg2128GlufsTer?) c.4369del (p.Arg1457GlufsTer?) c.3919del (p.Arg1307GlufsTer?) c.3127del (p.Arg1043GlufsTer?) | ClinVar dbSNP |
| 8 | g.60853017C>A | CA461105179 | CHD7 | c.6292C>A (p.Arg2098=) c.1717-9212C>A (n.1717-9212C>A) c.6382C>A (p.Arg2128=) c.4369C>A (p.Arg1457=) c.3919C>A (p.Arg1307=) c.3127C>A (p.Arg1043=) | |
| 8 | g.60853017C= | CA1788103334 | CHD7 | c.6292C= (p.Arg2098=) c.1717-9212C= (n.1717-9212C=) c.6382C= (p.Arg2128=) c.4369C= (p.Arg1457=) c.3919C= (p.Arg1307=) c.3127C= (p.Arg1043=) | |
| 8 | g.60853017C>G | CA371324695 | CHD7 | c.6292C>G (p.Arg2098Gly) c.1717-9212C>G (n.1717-9212C>G) c.6382C>G (p.Arg2128Gly) c.4369C>G (p.Arg1457Gly) c.3919C>G (p.Arg1307Gly) c.3127C>G (p.Arg1043Gly) | |
| 8 | g.60853017C>T | CA10576249 | CHD7 | c.6292C>T (p.Arg2098Ter) c.1717-9212C>T (n.1717-9212C>T) c.6382C>T (p.Arg2128Ter) c.4369C>T (p.Arg1457Ter) c.3919C>T (p.Arg1307Ter) c.3127C>T (p.Arg1043Ter) | ClinVar dbSNP |
| 8 | g.60853018G>A | CA4760567 | CHD7 | c.6293G>A (p.Arg2098Gln) c.1717-9211G>A (n.1717-9211G>A) c.6383G>A (p.Arg2128Gln) c.4370G>A (p.Arg1457Gln) c.3920G>A (p.Arg1307Gln) c.3128G>A (p.Arg1043Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853018G>C | CA371324699 | CHD7 | c.6293G>C (p.Arg2098Pro) c.1717-9211G>C (n.1717-9211G>C) c.6383G>C (p.Arg2128Pro) c.4370G>C (p.Arg1457Pro) c.3920G>C (p.Arg1307Pro) c.3128G>C (p.Arg1043Pro) | |
| 8 | g.60853018G= | CA1788103343 | CHD7 | c.6293G= (p.Arg2098=) c.1717-9211G= (n.1717-9211G=) c.6383G= (p.Arg2128=) c.4370G= (p.Arg1457=) c.3920G= (p.Arg1307=) c.3128G= (p.Arg1043=) | |
| 8 | g.60853018G>T | CA371324698 | CHD7 | c.6293G>T (p.Arg2098Leu) c.1717-9211G>T (n.1717-9211G>T) c.6383G>T (p.Arg2128Leu) c.4370G>T (p.Arg1457Leu) c.3920G>T (p.Arg1307Leu) c.3128G>T (p.Arg1043Leu) | |
| 8 | g.60853019A>C | CA461105182 | CHD7 | c.6294A>C (p.Arg2098=) c.1717-9210A>C (n.1717-9210A>C) c.6384A>C (p.Arg2128=) c.4371A>C (p.Arg1457=) c.3921A>C (p.Arg1307=) c.3129A>C (p.Arg1043=) | gnomAD v4 |
| 8 | g.60853019A>G | CA461105183 | CHD7 | c.6294A>G (p.Arg2098=) c.1717-9210A>G (n.1717-9210A>G) c.6384A>G (p.Arg2128=) c.4371A>G (p.Arg1457=) c.3921A>G (p.Arg1307=) c.3129A>G (p.Arg1043=) | |
| 8 | g.60853019A>T | CA461105184 | CHD7 | c.6294A>T (p.Arg2098=) c.1717-9210A>T (n.1717-9210A>T) c.6384A>T (p.Arg2128=) c.4371A>T (p.Arg1457=) c.3921A>T (p.Arg1307=) c.3129A>T (p.Arg1043=) | |
| 8 | g.60853020G>A | CA371324705 | CHD7 | c.6295G>A (p.Asp2099Asn) c.1717-9209G>A (n.1717-9209G>A) c.6385G>A (p.Asp2129Asn) c.4372G>A (p.Asp1458Asn) c.3922G>A (p.Asp1308Asn) c.3130G>A (p.Asp1044Asn) | |
| 8 | g.60853020G>C | CA371324702 | CHD7 | c.6295G>C (p.Asp2099His) c.1717-9209G>C (n.1717-9209G>C) c.6385G>C (p.Asp2129His) c.4372G>C (p.Asp1458His) c.3922G>C (p.Asp1308His) c.3130G>C (p.Asp1044His) | |
| 8 | g.60853020G>T | CA371324704 | CHD7 | c.6295G>T (p.Asp2099Tyr) c.1717-9209G>T (n.1717-9209G>T) c.6385G>T (p.Asp2129Tyr) c.4372G>T (p.Asp1458Tyr) c.3922G>T (p.Asp1308Tyr) c.3130G>T (p.Asp1044Tyr) | |
| 8 | g.60853021A= | CA1788103354 | CHD7 | c.6296A= (p.Asp2099=) c.1717-9208A= (n.1717-9208A=) c.6386A= (p.Asp2129=) c.4373A= (p.Asp1458=) c.3923A= (p.Asp1308=) c.3131A= (p.Asp1044=) | |
| 8 | g.60853021A>C | CA371324706 | CHD7 | c.6296A>C (p.Asp2099Ala) c.1717-9208A>C (n.1717-9208A>C) c.6386A>C (p.Asp2129Ala) c.4373A>C (p.Asp1458Ala) c.3923A>C (p.Asp1308Ala) c.3131A>C (p.Asp1044Ala) | |
| 8 | g.60853021A>G | CA4760568 | CHD7 | c.6296A>G (p.Asp2099Gly) c.1717-9208A>G (n.1717-9208A>G) c.6386A>G (p.Asp2129Gly) c.4373A>G (p.Asp1458Gly) c.3923A>G (p.Asp1308Gly) c.3131A>G (p.Asp1044Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853021A>T | CA371324709 | CHD7 | c.6296A>T (p.Asp2099Val) c.1717-9208A>T (n.1717-9208A>T) c.6386A>T (p.Asp2129Val) c.4373A>T (p.Asp1458Val) c.3923A>T (p.Asp1308Val) c.3131A>T (p.Asp1044Val) | |
| 8 | g.60853022C>A | CA371324710 | CHD7 | c.6297C>A (p.Asp2099Glu) c.1717-9207C>A (n.1717-9207C>A) c.6387C>A (p.Asp2129Glu) c.4374C>A (p.Asp1458Glu) c.3924C>A (p.Asp1308Glu) c.3132C>A (p.Asp1044Glu) | |
| 8 | g.60853022C>G | CA371324712 | CHD7 | c.6297C>G (p.Asp2099Glu) c.1717-9207C>G (n.1717-9207C>G) c.6387C>G (p.Asp2129Glu) c.4374C>G (p.Asp1458Glu) c.3924C>G (p.Asp1308Glu) c.3132C>G (p.Asp1044Glu) | |
| 8 | g.60853022C>T | CA461105187 | CHD7 | c.6297C>T (p.Asp2099=) c.1717-9207C>T (n.1717-9207C>T) c.6387C>T (p.Asp2129=) c.4374C>T (p.Asp1458=) c.3924C>T (p.Asp1308=) c.3132C>T (p.Asp1044=) | |
| 8 | g.60853023T>A | CA371324713 | CHD7 | c.6298T>A (p.Leu2100Met) c.1717-9206T>A (n.1717-9206T>A) c.6388T>A (p.Leu2130Met) c.4375T>A (p.Leu1459Met) c.3925T>A (p.Leu1309Met) c.3133T>A (p.Leu1045Met) | |
| 8 | g.60853023T>C | CA461105189 | CHD7 | c.6298T>C (p.Leu2100=) c.1717-9206T>C (n.1717-9206T>C) c.6388T>C (p.Leu2130=) c.4375T>C (p.Leu1459=) c.3925T>C (p.Leu1309=) c.3133T>C (p.Leu1045=) | |
| 8 | g.60853023T>G | CA371324715 | CHD7 | c.6298T>G (p.Leu2100Val) c.1717-9206T>G (n.1717-9206T>G) c.6388T>G (p.Leu2130Val) c.4375T>G (p.Leu1459Val) c.3925T>G (p.Leu1309Val) c.3133T>G (p.Leu1045Val) | |
| 8 | g.60853024T>A | CA371324716 | CHD7 | c.6299T>A (p.Leu2100Ter) c.1717-9205T>A (n.1717-9205T>A) c.6389T>A (p.Leu2130Ter) c.4376T>A (p.Leu1459Ter) c.3926T>A (p.Leu1309Ter) c.3134T>A (p.Leu1045Ter) | |
| 8 | g.60853024T>C | CA371324718 | CHD7 | c.6299T>C (p.Leu2100Ser) c.1717-9205T>C (n.1717-9205T>C) c.6389T>C (p.Leu2130Ser) c.4376T>C (p.Leu1459Ser) c.3926T>C (p.Leu1309Ser) c.3134T>C (p.Leu1045Ser) | |
| 8 | g.60853024T>G | CA371324719 | CHD7 | c.6299T>G (p.Leu2100Trp) c.1717-9205T>G (n.1717-9205T>G) c.6389T>G (p.Leu2130Trp) c.4376T>G (p.Leu1459Trp) c.3926T>G (p.Leu1309Trp) c.3134T>G (p.Leu1045Trp) | |
| 8 | g.60853025G>A | CA461105190 | CHD7 | c.6300G>A (p.Leu2100=) c.1717-9204G>A (n.1717-9204G>A) c.6390G>A (p.Leu2130=) c.4377G>A (p.Leu1459=) c.3927G>A (p.Leu1309=) c.3135G>A (p.Leu1045=) | |
| 8 | g.60853025G>C | CA371324721 | CHD7 | c.6300G>C (p.Leu2100Phe) c.1717-9204G>C (n.1717-9204G>C) c.6390G>C (p.Leu2130Phe) c.4377G>C (p.Leu1459Phe) c.3927G>C (p.Leu1309Phe) c.3135G>C (p.Leu1045Phe) | |
| 8 | g.60853025G>T | CA371324722 | CHD7 | c.6300G>T (p.Leu2100Phe) c.1717-9204G>T (n.1717-9204G>T) c.6390G>T (p.Leu2130Phe) c.4377G>T (p.Leu1459Phe) c.3927G>T (p.Leu1309Phe) c.3135G>T (p.Leu1045Phe) | |
| 8 | g.60853026C>A | CA371324724 | CHD7 | c.6301C>A (p.Leu2101Met) c.1717-9203C>A (n.1717-9203C>A) c.6391C>A (p.Leu2131Met) c.4378C>A (p.Leu1460Met) c.3928C>A (p.Leu1310Met) c.3136C>A (p.Leu1046Met) | |
| 8 | g.60853026C>G | CA371324725 | CHD7 | c.6301C>G (p.Leu2101Val) c.1717-9203C>G (n.1717-9203C>G) c.6391C>G (p.Leu2131Val) c.4378C>G (p.Leu1460Val) c.3928C>G (p.Leu1310Val) c.3136C>G (p.Leu1046Val) | gnomAD v4 |
| 8 | g.60853026C>T | CA461105193 | CHD7 | c.6301C>T (p.Leu2101=) c.1717-9203C>T (n.1717-9203C>T) c.6391C>T (p.Leu2131=) c.4378C>T (p.Leu1460=) c.3928C>T (p.Leu1310=) c.3136C>T (p.Leu1046=) | |
| 8 | g.60853027T>A | CA371324727 | CHD7 | c.6302T>A (p.Leu2101Gln) c.1717-9202T>A (n.1717-9202T>A) c.6392T>A (p.Leu2131Gln) c.4379T>A (p.Leu1460Gln) c.3929T>A (p.Leu1310Gln) c.3137T>A (p.Leu1046Gln) | |
| 8 | g.60853027T>C | CA371324728 | CHD7 | c.6302T>C (p.Leu2101Pro) c.1717-9202T>C (n.1717-9202T>C) c.6392T>C (p.Leu2131Pro) c.4379T>C (p.Leu1460Pro) c.3929T>C (p.Leu1310Pro) c.3137T>C (p.Leu1046Pro) | ClinVar dbSNP |
| 8 | g.60853027T>G | CA371324730 | CHD7 | c.6302T>G (p.Leu2101Arg) c.1717-9202T>G (n.1717-9202T>G) c.6392T>G (p.Leu2131Arg) c.4379T>G (p.Leu1460Arg) c.3929T>G (p.Leu1310Arg) c.3137T>G (p.Leu1046Arg) | |
| 8 | g.60853027T= | CA1788103367 | CHD7 | c.6302T= (p.Leu2101=) c.1717-9202T= (n.1717-9202T=) c.6392T= (p.Leu2131=) c.4379T= (p.Leu1460=) c.3929T= (p.Leu1310=) c.3137T= (p.Leu1046=) | |
| 8 | g.60853028G>A | CA461105194 | CHD7 | c.6303G>A (p.Leu2101=) c.1717-9201G>A (n.1717-9201G>A) c.6393G>A (p.Leu2131=) c.4380G>A (p.Leu1460=) c.3930G>A (p.Leu1310=) c.3138G>A (p.Leu1046=) | gnomAD v4 |
| 8 | g.60853028G>C | CA461105195 | CHD7 | c.6303G>C (p.Leu2101=) c.1717-9201G>C (n.1717-9201G>C) c.6393G>C (p.Leu2131=) c.4380G>C (p.Leu1460=) c.3930G>C (p.Leu1310=) c.3138G>C (p.Leu1046=) | |
| 8 | g.60853028G>T | CA461105197 | CHD7 | c.6303G>T (p.Leu2101=) c.1717-9201G>T (n.1717-9201G>T) c.6393G>T (p.Leu2131=) c.4380G>T (p.Leu1460=) c.3930G>T (p.Leu1310=) c.3138G>T (p.Leu1046=) | gnomAD v4 |
| 8 | g.60853029del | CA2695209415 | CHD7 | c.6304del (p.Val2102LeufsTer?) c.1717-9200del (n.1717-9200del) c.6394del (p.Val2132LeufsTer?) c.4381del (p.Val1461LeufsTer?) c.3931del (p.Val1311LeufsTer?) c.3139del (p.Val1047LeufsTer?) | |
| 8 | g.60853029G>A | CA371324731 | CHD7 | c.6304G>A (p.Val2102Ile) c.1717-9200G>A (n.1717-9200G>A) c.6394G>A (p.Val2132Ile) c.4381G>A (p.Val1461Ile) c.3931G>A (p.Val1311Ile) c.3139G>A (p.Val1047Ile) | |
| 8 | g.60853029G>C | CA371324733 | CHD7 | c.6304G>C (p.Val2102Leu) c.1717-9200G>C (n.1717-9200G>C) c.6394G>C (p.Val2132Leu) c.4381G>C (p.Val1461Leu) c.3931G>C (p.Val1311Leu) c.3139G>C (p.Val1047Leu) | |
| 8 | g.60853029G= | CA1788103390 | CHD7 | c.6304G= (p.Val2102=) c.1717-9200G= (n.1717-9200G=) c.6394G= (p.Val2132=) c.4381G= (p.Val1461=) c.3931G= (p.Val1311=) c.3139G= (p.Val1047=) | |
| 8 | g.60853029G>T | CA4760569 | CHD7 | c.6304G>T (p.Val2102Phe) c.1717-9200G>T (n.1717-9200G>T) c.6394G>T (p.Val2132Phe) c.4381G>T (p.Val1461Phe) c.3931G>T (p.Val1311Phe) c.3139G>T (p.Val1047Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853030T>A | CA371324735 | CHD7 | c.6305T>A (p.Val2102Asp) c.1717-9199T>A (n.1717-9199T>A) c.6395T>A (p.Val2132Asp) c.4382T>A (p.Val1461Asp) c.3932T>A (p.Val1311Asp) c.3140T>A (p.Val1047Asp) | |
| 8 | g.60853030T>C | CA371324737 | CHD7 | c.6305T>C (p.Val2102Ala) c.1717-9199T>C (n.1717-9199T>C) c.6395T>C (p.Val2132Ala) c.4382T>C (p.Val1461Ala) c.3932T>C (p.Val1311Ala) c.3140T>C (p.Val1047Ala) | |
| 8 | g.60853030T>G | CA177354076 | CHD7 | c.6305T>G (p.Val2102Gly) c.1717-9199T>G (n.1717-9199T>G) c.6395T>G (p.Val2132Gly) c.4382T>G (p.Val1461Gly) c.3932T>G (p.Val1311Gly) c.3140T>G (p.Val1047Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853030T= | CA1788103397 | CHD7 | c.6305T= (p.Val2102=) c.1717-9199T= (n.1717-9199T=) c.6395T= (p.Val2132=) c.4382T= (p.Val1461=) c.3932T= (p.Val1311=) c.3140T= (p.Val1047=) |