UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.60853028_60853030dup | CA2780535036 | CHD7 | c.6303_6305dup (p.Val2102_Gly2103insVal) c.1717-9201_1717-9199dup (n.1717-9201_1717-9199dup) c.6393_6395dup (p.Val2132_Gly2133insVal) c.4380_4382dup (p.Val1461_Gly1462insVal) c.3930_3932dup (p.Val1311_Gly1312insVal) c.3138_3140dup (p.Val1047_Gly1048insVal) | |
| 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=) | |
| 8 | g.60853031T>A | CA461105201 | CHD7 | c.6306T>A (p.Val2102=) c.1717-9198T>A (n.1717-9198T>A) c.6396T>A (p.Val2132=) c.4383T>A (p.Val1461=) c.3933T>A (p.Val1311=) c.3141T>A (p.Val1047=) | |
| 8 | g.60853031T>C | CA461105199 | CHD7 | c.6306T>C (p.Val2102=) c.1717-9198T>C (n.1717-9198T>C) c.6396T>C (p.Val2132=) c.4383T>C (p.Val1461=) c.3933T>C (p.Val1311=) c.3141T>C (p.Val1047=) | |
| 8 | g.60853031T>G | CA461105198 | CHD7 | c.6306T>G (p.Val2102=) c.1717-9198T>G (n.1717-9198T>G) c.6396T>G (p.Val2132=) c.4383T>G (p.Val1461=) c.3933T>G (p.Val1311=) c.3141T>G (p.Val1047=) | |
| 8 | g.60853032G>A | CA371324739 | CHD7 | c.6307G>A (p.Gly2103Ser) c.1717-9197G>A (n.1717-9197G>A) c.6397G>A (p.Gly2133Ser) c.4384G>A (p.Gly1462Ser) c.3934G>A (p.Gly1312Ser) c.3142G>A (p.Gly1048Ser) | |
| 8 | g.60853032G>C | CA371324740 | CHD7 | c.6307G>C (p.Gly2103Arg) c.1717-9197G>C (n.1717-9197G>C) c.6397G>C (p.Gly2133Arg) c.4384G>C (p.Gly1462Arg) c.3934G>C (p.Gly1312Arg) c.3142G>C (p.Gly1048Arg) | |
| 8 | g.60853032G>T | CA371324742 | CHD7 | c.6307G>T (p.Gly2103Cys) c.1717-9197G>T (n.1717-9197G>T) c.6397G>T (p.Gly2133Cys) c.4384G>T (p.Gly1462Cys) c.3934G>T (p.Gly1312Cys) c.3142G>T (p.Gly1048Cys) | |
| 8 | g.60853033G>A | CA243786 | CHD7 | c.6308G>A (p.Gly2103Asp) c.1717-9196G>A (n.1717-9196G>A) c.6398G>A (p.Gly2133Asp) c.4385G>A (p.Gly1462Asp) c.3935G>A (p.Gly1312Asp) c.3143G>A (p.Gly1048Asp) | ClinVar dbSNP |
| 8 | g.60853033G>C | CA371324745 | CHD7 | c.6308G>C (p.Gly2103Ala) c.1717-9196G>C (n.1717-9196G>C) c.6398G>C (p.Gly2133Ala) c.4385G>C (p.Gly1462Ala) c.3935G>C (p.Gly1312Ala) c.3143G>C (p.Gly1048Ala) | |
| 8 | g.60853033G= | CA1788103405 | CHD7 | c.6308G= (p.Gly2103=) c.1717-9196G= (n.1717-9196G=) c.6398G= (p.Gly2133=) c.4385G= (p.Gly1462=) c.3935G= (p.Gly1312=) c.3143G= (p.Gly1048=) | |
| 8 | g.60853033G>T | CA371324744 | CHD7 | c.6308G>T (p.Gly2103Val) c.1717-9196G>T (n.1717-9196G>T) c.6398G>T (p.Gly2133Val) c.4385G>T (p.Gly1462Val) c.3935G>T (p.Gly1312Val) c.3143G>T (p.Gly1048Val) | |
| 8 | g.60853034T>A | CA461105202 | CHD7 | c.6309T>A (p.Gly2103=) c.1717-9195T>A (n.1717-9195T>A) c.6399T>A (p.Gly2133=) c.4386T>A (p.Gly1462=) c.3936T>A (p.Gly1312=) c.3144T>A (p.Gly1048=) | |
| 8 | g.60853034T>C | CA461105204 | CHD7 | c.6309T>C (p.Gly2103=) c.1717-9195T>C (n.1717-9195T>C) c.6399T>C (p.Gly2133=) c.4386T>C (p.Gly1462=) c.3936T>C (p.Gly1312=) c.3144T>C (p.Gly1048=) | |
| 8 | g.60853034T>G | CA461105206 | CHD7 | c.6309T>G (p.Gly2103=) c.1717-9195T>G (n.1717-9195T>G) c.6399T>G (p.Gly2133=) c.4386T>G (p.Gly1462=) c.3936T>G (p.Gly1312=) c.3144T>G (p.Gly1048=) | dbSNP |
| 8 | g.60853034T= | CA1788103408 | CHD7 | c.6309T= (p.Gly2103=) c.1717-9195T= (n.1717-9195T=) c.6399T= (p.Gly2133=) c.4386T= (p.Gly1462=) c.3936T= (p.Gly1312=) c.3144T= (p.Gly1048=) | |
| 8 | g.60853035G>A | CA371324748 | CHD7 | c.6310G>A (p.Ala2104Thr) c.1717-9194G>A (n.1717-9194G>A) c.6400G>A (p.Ala2134Thr) c.4387G>A (p.Ala1463Thr) c.3937G>A (p.Ala1313Thr) c.3145G>A (p.Ala1049Thr) | gnomAD v4 |
| 8 | g.60853035G>C | CA371324749 | CHD7 | c.6310G>C (p.Ala2104Pro) c.1717-9194G>C (n.1717-9194G>C) c.6400G>C (p.Ala2134Pro) c.4387G>C (p.Ala1463Pro) c.3937G>C (p.Ala1313Pro) c.3145G>C (p.Ala1049Pro) | |
| 8 | g.60853035G>T | CA371324751 | CHD7 | c.6310G>T (p.Ala2104Ser) c.1717-9194G>T (n.1717-9194G>T) c.6400G>T (p.Ala2134Ser) c.4387G>T (p.Ala1463Ser) c.3937G>T (p.Ala1313Ser) c.3145G>T (p.Ala1049Ser) | |
| 8 | g.60853036C>A | CA371324753 | CHD7 | c.6311C>A (p.Ala2104Asp) c.1717-9193C>A (n.1717-9193C>A) c.6401C>A (p.Ala2134Asp) c.4388C>A (p.Ala1463Asp) c.3938C>A (p.Ala1313Asp) c.3146C>A (p.Ala1049Asp) | |
| 8 | g.60853036C>G | CA371324754 | CHD7 | c.6311C>G (p.Ala2104Gly) c.1717-9193C>G (n.1717-9193C>G) c.6401C>G (p.Ala2134Gly) c.4388C>G (p.Ala1463Gly) c.3938C>G (p.Ala1313Gly) c.3146C>G (p.Ala1049Gly) | |
| 8 | g.60853036C>T | CA371324756 | CHD7 | c.6311C>T (p.Ala2104Val) c.1717-9193C>T (n.1717-9193C>T) c.6401C>T (p.Ala2134Val) c.4388C>T (p.Ala1463Val) c.3938C>T (p.Ala1313Val) c.3146C>T (p.Ala1049Val) | gnomAD v4 COSMIC |
| 8 | g.60853037T>A | CA461105208 | CHD7 | c.6312T>A (p.Ala2104=) c.1717-9192T>A (n.1717-9192T>A) c.6402T>A (p.Ala2134=) c.4389T>A (p.Ala1463=) c.3939T>A (p.Ala1313=) c.3147T>A (p.Ala1049=) | |
| 8 | g.60853037T>C | CA461105210 | CHD7 | c.6312T>C (p.Ala2104=) c.1717-9192T>C (n.1717-9192T>C) c.6402T>C (p.Ala2134=) c.4389T>C (p.Ala1463=) c.3939T>C (p.Ala1313=) c.3147T>C (p.Ala1049=) | dbSNP |
| 8 | g.60853037T>G | CA461105212 | CHD7 | c.6312T>G (p.Ala2104=) c.1717-9192T>G (n.1717-9192T>G) c.6402T>G (p.Ala2134=) c.4389T>G (p.Ala1463=) c.3939T>G (p.Ala1313=) c.3147T>G (p.Ala1049=) | |
| 8 | g.60853037T= | CA1788103413 | CHD7 | c.6312T= (p.Ala2104=) c.1717-9192T= (n.1717-9192T=) c.6402T= (p.Ala2134=) c.4389T= (p.Ala1463=) c.3939T= (p.Ala1313=) c.3147T= (p.Ala1049=) | |
| 8 | g.60853038G>A | CA371324757 | CHD7 | c.6313G>A (p.Ala2105Thr) c.1717-9191G>A (n.1717-9191G>A) c.6403G>A (p.Ala2135Thr) c.4390G>A (p.Ala1464Thr) c.3940G>A (p.Ala1314Thr) c.3148G>A (p.Ala1050Thr) | |
| 8 | g.60853038G>C | CA371324758 | CHD7 | c.6313G>C (p.Ala2105Pro) c.1717-9191G>C (n.1717-9191G>C) c.6403G>C (p.Ala2135Pro) c.4390G>C (p.Ala1464Pro) c.3940G>C (p.Ala1314Pro) c.3148G>C (p.Ala1050Pro) | |
| 8 | g.60853038G>T | CA371324760 | CHD7 | c.6313G>T (p.Ala2105Ser) c.1717-9191G>T (n.1717-9191G>T) c.6403G>T (p.Ala2135Ser) c.4390G>T (p.Ala1464Ser) c.3940G>T (p.Ala1314Ser) c.3148G>T (p.Ala1050Ser) | |
| 8 | g.60853039C>A | CA371324762 | CHD7 | c.6314C>A (p.Ala2105Asp) c.1717-9190C>A (n.1717-9190C>A) c.6404C>A (p.Ala2135Asp) c.4391C>A (p.Ala1464Asp) c.3941C>A (p.Ala1314Asp) c.3149C>A (p.Ala1050Asp) | |
| 8 | g.60853039C= | CA1788103414 | CHD7 | c.6314C= (p.Ala2105=) c.1717-9190C= (n.1717-9190C=) c.6404C= (p.Ala2135=) c.4391C= (p.Ala1464=) c.3941C= (p.Ala1314=) c.3149C= (p.Ala1050=) | |
| 8 | g.60853039C>G | CA371324763 | CHD7 | c.6314C>G (p.Ala2105Gly) c.1717-9190C>G (n.1717-9190C>G) c.6404C>G (p.Ala2135Gly) c.4391C>G (p.Ala1464Gly) c.3941C>G (p.Ala1314Gly) c.3149C>G (p.Ala1050Gly) | |
| 8 | g.60853039C>T | CA4760570 | CHD7 | c.6314C>T (p.Ala2105Val) c.1717-9190C>T (n.1717-9190C>T) c.6404C>T (p.Ala2135Val) c.4391C>T (p.Ala1464Val) c.3941C>T (p.Ala1314Val) c.3149C>T (p.Ala1050Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853040T>A | CA461105215 | CHD7 | c.6315T>A (p.Ala2105=) c.1717-9189T>A (n.1717-9189T>A) c.6405T>A (p.Ala2135=) c.4392T>A (p.Ala1464=) c.3942T>A (p.Ala1314=) c.3150T>A (p.Ala1050=) | dbSNP |
| 8 | g.60853040T>C | CA461105216 | CHD7 | c.6315T>C (p.Ala2105=) c.1717-9189T>C (n.1717-9189T>C) c.6405T>C (p.Ala2135=) c.4392T>C (p.Ala1464=) c.3942T>C (p.Ala1314=) c.3150T>C (p.Ala1050=) | |
| 8 | g.60853040T>G | CA461105217 | CHD7 | c.6315T>G (p.Ala2105=) c.1717-9189T>G (n.1717-9189T>G) c.6405T>G (p.Ala2135=) c.4392T>G (p.Ala1464=) c.3942T>G (p.Ala1314=) c.3150T>G (p.Ala1050=) | |
| 8 | g.60853040T= | CA1788103416 | CHD7 | c.6315T= (p.Ala2105=) c.1717-9189T= (n.1717-9189T=) c.6405T= (p.Ala2135=) c.4392T= (p.Ala1464=) c.3942T= (p.Ala1314=) c.3150T= (p.Ala1050=) | |
| 8 | g.60853041A= | CA1788103420 | CHD7 | c.6316A= (p.Lys2106=) c.1717-9188A= (n.1717-9188A=) c.6406A= (p.Lys2136=) c.4393A= (p.Lys1465=) c.3943A= (p.Lys1315=) c.3151A= (p.Lys1051=) | |
| 8 | g.60853041A>C | CA177354080 | CHD7 | c.6316A>C (p.Lys2106Gln) c.1717-9188A>C (n.1717-9188A>C) c.6406A>C (p.Lys2136Gln) c.4393A>C (p.Lys1465Gln) c.3943A>C (p.Lys1315Gln) c.3151A>C (p.Lys1051Gln) | dbSNP gnomAD v4 |
| 8 | g.60853041A>G | CA371324766 | CHD7 | c.6316A>G (p.Lys2106Glu) c.1717-9188A>G (n.1717-9188A>G) c.6406A>G (p.Lys2136Glu) c.4393A>G (p.Lys1465Glu) c.3943A>G (p.Lys1315Glu) c.3151A>G (p.Lys1051Glu) | |
| 8 | g.60853041A>T | CA371324764 | CHD7 | c.6316A>T (p.Lys2106Ter) c.1717-9188A>T (n.1717-9188A>T) c.6406A>T (p.Lys2136Ter) c.4393A>T (p.Lys1465Ter) c.3943A>T (p.Lys1315Ter) c.3151A>T (p.Lys1051Ter) | |
| 8 | g.60853042A>C | CA371324768 | CHD7 | c.6317A>C (p.Lys2106Thr) c.1717-9187A>C (n.1717-9187A>C) c.6407A>C (p.Lys2136Thr) c.4394A>C (p.Lys1465Thr) c.3944A>C (p.Lys1315Thr) c.3152A>C (p.Lys1051Thr) | |
| 8 | g.60853042A>G | CA371324769 | CHD7 | c.6317A>G (p.Lys2106Arg) c.1717-9187A>G (n.1717-9187A>G) c.6407A>G (p.Lys2136Arg) c.4394A>G (p.Lys1465Arg) c.3944A>G (p.Lys1315Arg) c.3152A>G (p.Lys1051Arg) | gnomAD v4 |
| 8 | g.60853042A>T | CA371324770 | CHD7 | c.6317A>T (p.Lys2106Ile) c.1717-9187A>T (n.1717-9187A>T) c.6407A>T (p.Lys2136Ile) c.4394A>T (p.Lys1465Ile) c.3944A>T (p.Lys1315Ile) c.3152A>T (p.Lys1051Ile) | |
| 8 | g.60853043A>C | CA371324771 | CHD7 | c.6318A>C (p.Lys2106Asn) c.1717-9186A>C (n.1717-9186A>C) c.6408A>C (p.Lys2136Asn) c.4395A>C (p.Lys1465Asn) c.3945A>C (p.Lys1315Asn) c.3153A>C (p.Lys1051Asn) | |
| 8 | g.60853043A>G | CA461105219 | CHD7 | c.6318A>G (p.Lys2106=) c.1717-9186A>G (n.1717-9186A>G) c.6408A>G (p.Lys2136=) c.4395A>G (p.Lys1465=) c.3945A>G (p.Lys1315=) c.3153A>G (p.Lys1051=) | |
| 8 | g.60853043A>T | CA371324772 | CHD7 | c.6318A>T (p.Lys2106Asn) c.1717-9186A>T (n.1717-9186A>T) c.6408A>T (p.Lys2136Asn) c.4395A>T (p.Lys1465Asn) c.3945A>T (p.Lys1315Asn) c.3153A>T (p.Lys1051Asn) | |
| 8 | g.60853045_60853046del | CA2695209417 | CHD7 | c.6320_6321del (p.His2107ArgfsTer12) c.1717-9184_1717-9183del (n.1717-9184_1717-9183del) c.6410_6411del (p.His2137ArgfsTer12) c.4397_4398del (p.His1466ArgfsTer12) c.3947_3948del (p.His1316ArgfsTer12) c.3155_3156del (p.His1052ArgfsTer12) | |
| 8 | g.60853044C>A | CA371324777 | CHD7 | c.6319C>A (p.His2107Asn) c.1717-9185C>A (n.1717-9185C>A) c.6409C>A (p.His2137Asn) c.4396C>A (p.His1466Asn) c.3946C>A (p.His1316Asn) c.3154C>A (p.His1052Asn) | |
| 8 | g.60853044C>G | CA371324774 | CHD7 | c.6319C>G (p.His2107Asp) c.1717-9185C>G (n.1717-9185C>G) c.6409C>G (p.His2137Asp) c.4396C>G (p.His1466Asp) c.3946C>G (p.His1316Asp) c.3154C>G (p.His1052Asp) | |
| 8 | g.60853044C>T | CA371324776 | CHD7 | c.6319C>T (p.His2107Tyr) c.1717-9185C>T (n.1717-9185C>T) c.6409C>T (p.His2137Tyr) c.4396C>T (p.His1466Tyr) c.3946C>T (p.His1316Tyr) c.3154C>T (p.His1052Tyr) | |
| 8 | g.60853045A>C | CA371324779 | CHD7 | c.6320A>C (p.His2107Pro) c.1717-9184A>C (n.1717-9184A>C) c.6410A>C (p.His2137Pro) c.4397A>C (p.His1466Pro) c.3947A>C (p.His1316Pro) c.3155A>C (p.His1052Pro) | |
| 8 | g.60853045A>G | CA371324780 | CHD7 | c.6320A>G (p.His2107Arg) c.1717-9184A>G (n.1717-9184A>G) c.6410A>G (p.His2137Arg) c.4397A>G (p.His1466Arg) c.3947A>G (p.His1316Arg) c.3155A>G (p.His1052Arg) | |
| 8 | g.60853045A>T | CA371324781 | CHD7 | c.6320A>T (p.His2107Leu) c.1717-9184A>T (n.1717-9184A>T) c.6410A>T (p.His2137Leu) c.4397A>T (p.His1466Leu) c.3947A>T (p.His1316Leu) c.3155A>T (p.His1052Leu) | |
| 8 | g.60853046C>A | CA371324783 | CHD7 | c.6321C>A (p.His2107Gln) c.1717-9183C>A (n.1717-9183C>A) c.6411C>A (p.His2137Gln) c.4398C>A (p.His1466Gln) c.3948C>A (p.His1316Gln) c.3156C>A (p.His1052Gln) | ClinVar |
| 8 | g.60853046C= | CA1788103449 | CHD7 | c.6321C= (p.His2107=) c.1717-9183C= (n.1717-9183C=) c.6411C= (p.His2137=) c.4398C= (p.His1466=) c.3948C= (p.His1316=) c.3156C= (p.His1052=) | |
| 8 | g.60853046C>G | CA371324784 | CHD7 | c.6321C>G (p.His2107Gln) c.1717-9183C>G (n.1717-9183C>G) c.6411C>G (p.His2137Gln) c.4398C>G (p.His1466Gln) c.3948C>G (p.His1316Gln) c.3156C>G (p.His1052Gln) | |
| 8 | g.60853046C>T | CA4760571 | CHD7 | c.6321C>T (p.His2107=) c.1717-9183C>T (n.1717-9183C>T) c.6411C>T (p.His2137=) c.4398C>T (p.His1466=) c.3948C>T (p.His1316=) c.3156C>T (p.His1052=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853047G>A | CA252062 | CHD7 | c.6322G>A (p.Gly2108Arg) c.1717-9182G>A (n.1717-9182G>A) c.6412G>A (p.Gly2138Arg) c.4399G>A (p.Gly1467Arg) c.3949G>A (p.Gly1317Arg) c.3157G>A (p.Gly1053Arg) | ClinVar dbSNP |
| 8 | g.60853047G>C | CA371324788 | CHD7 | c.6322G>C (p.Gly2108Arg) c.1717-9182G>C (n.1717-9182G>C) c.6412G>C (p.Gly2138Arg) c.4399G>C (p.Gly1467Arg) c.3949G>C (p.Gly1317Arg) c.3157G>C (p.Gly1053Arg) | |
| 8 | g.60853047G= | CA1788103472 | CHD7 | c.6322G= (p.Gly2108=) c.1717-9182G= (n.1717-9182G=) c.6412G= (p.Gly2138=) c.4399G= (p.Gly1467=) c.3949G= (p.Gly1317=) c.3157G= (p.Gly1053=) | |
| 8 | g.60853047G>T | CA371324787 | CHD7 | c.6322G>T (p.Gly2108Trp) c.1717-9182G>T (n.1717-9182G>T) c.6412G>T (p.Gly2138Trp) c.4399G>T (p.Gly1467Trp) c.3949G>T (p.Gly1317Trp) c.3157G>T (p.Gly1053Trp) | |
| 8 | g.60853048G>A | CA371324790 | CHD7 | c.6323G>A (p.Gly2108Glu) c.1717-9181G>A (n.1717-9181G>A) c.6413G>A (p.Gly2138Glu) c.4400G>A (p.Gly1467Glu) c.3950G>A (p.Gly1317Glu) c.3158G>A (p.Gly1053Glu) | ClinVar |
| 8 | g.60853048G>C | CA371324789 | CHD7 | c.6323G>C (p.Gly2108Ala) c.1717-9181G>C (n.1717-9181G>C) c.6413G>C (p.Gly2138Ala) c.4400G>C (p.Gly1467Ala) c.3950G>C (p.Gly1317Ala) c.3158G>C (p.Gly1053Ala) | |
| 8 | g.60853048G>T | CA371324791 | CHD7 | c.6323G>T (p.Gly2108Val) c.1717-9181G>T (n.1717-9181G>T) c.6413G>T (p.Gly2138Val) c.4400G>T (p.Gly1467Val) c.3950G>T (p.Gly1317Val) c.3158G>T (p.Gly1053Val) | |
| 8 | g.60853049G>A | CA461105227 | CHD7 | c.6324G>A (p.Gly2108=) c.1717-9180G>A (n.1717-9180G>A) c.6414G>A (p.Gly2138=) c.4401G>A (p.Gly1467=) c.3951G>A (p.Gly1317=) c.3159G>A (p.Gly1053=) | |
| 8 | g.60853049G>C | CA461105228 | CHD7 | c.6324G>C (p.Gly2108=) c.1717-9180G>C (n.1717-9180G>C) c.6414G>C (p.Gly2138=) c.4401G>C (p.Gly1467=) c.3951G>C (p.Gly1317=) c.3159G>C (p.Gly1053=) | |
| 8 | g.60853049G= | CA1788103479 | CHD7 | c.6324G= (p.Gly2108=) c.1717-9180G= (n.1717-9180G=) c.6414G= (p.Gly2138=) c.4401G= (p.Gly1467=) c.3951G= (p.Gly1317=) c.3159G= (p.Gly1053=) | |
| 8 | g.60853049G>T | CA4760572 | CHD7 | c.6324G>T (p.Gly2108=) c.1717-9180G>T (n.1717-9180G>T) c.6414G>T (p.Gly2138=) c.4401G>T (p.Gly1467=) c.3951G>T (p.Gly1317=) c.3159G>T (p.Gly1053=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853050G>A | CA371324794 | CHD7 | c.6325G>A (p.Val2109Ile) c.1717-9179G>A (n.1717-9179G>A) c.6415G>A (p.Val2139Ile) c.4402G>A (p.Val1468Ile) c.3952G>A (p.Val1318Ile) c.3160G>A (p.Val1054Ile) | dbSNP |
| 8 | g.60853050G>C | CA371324795 | CHD7 | c.6325G>C (p.Val2109Leu) c.1717-9179G>C (n.1717-9179G>C) c.6415G>C (p.Val2139Leu) c.4402G>C (p.Val1468Leu) c.3952G>C (p.Val1318Leu) c.3160G>C (p.Val1054Leu) | |
| 8 | g.60853050G= | CA1788103488 | CHD7 | c.6325G= (p.Val2109=) c.1717-9179G= (n.1717-9179G=) c.6415G= (p.Val2139=) c.4402G= (p.Val1468=) c.3952G= (p.Val1318=) c.3160G= (p.Val1054=) | |
| 8 | g.60853050G>T | CA371324797 | CHD7 | c.6325G>T (p.Val2109Phe) c.1717-9179G>T (n.1717-9179G>T) c.6415G>T (p.Val2139Phe) c.4402G>T (p.Val1468Phe) c.3952G>T (p.Val1318Phe) c.3160G>T (p.Val1054Phe) | ClinVar |
| 8 | g.60853051del | CA2695209418 | CHD7 | c.6326del (p.Val2109AlafsTer?) c.1717-9178del (n.1717-9178del) c.6416del (p.Val2139AlafsTer?) c.4403del (p.Val1468AlafsTer?) c.3953del (p.Val1318AlafsTer?) c.3161del (p.Val1054AlafsTer?) | |
| 8 | g.60853051T>A | CA371324798 | CHD7 | c.6326T>A (p.Val2109Asp) c.1717-9178T>A (n.1717-9178T>A) c.6416T>A (p.Val2139Asp) c.4403T>A (p.Val1468Asp) c.3953T>A (p.Val1318Asp) c.3161T>A (p.Val1054Asp) | |
| 8 | g.60853051T>C | CA371324799 | CHD7 | c.6326T>C (p.Val2109Ala) c.1717-9178T>C (n.1717-9178T>C) c.6416T>C (p.Val2139Ala) c.4403T>C (p.Val1468Ala) c.3953T>C (p.Val1318Ala) c.3161T>C (p.Val1054Ala) | |
| 8 | g.60853051T>G | CA371324800 | CHD7 | c.6326T>G (p.Val2109Gly) c.1717-9178T>G (n.1717-9178T>G) c.6416T>G (p.Val2139Gly) c.4403T>G (p.Val1468Gly) c.3953T>G (p.Val1318Gly) c.3161T>G (p.Val1054Gly) | dbSNP |
| 8 | g.60853051T= | CA1788103492 | CHD7 | c.6326T= (p.Val2109=) c.1717-9178T= (n.1717-9178T=) c.6416T= (p.Val2139=) c.4403T= (p.Val1468=) c.3953T= (p.Val1318=) c.3161T= (p.Val1054=) | |
| 8 | g.60853051_60853052insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA | CA2780535048 | CHD7 | c.6326_6327insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val2109_Ser2110insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.1717-9178_1717-9177insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (n.1717-9178_1717-9177insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA) c.6416_6417insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val2139_Ser2140insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.4403_4404insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val1468_Ser1469insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.3953_3954insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val1318_Ser1319insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.3161_3162insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val1054_Ser1055insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) | |
| 8 | g.60853052C>A | CA461105230 | CHD7 | c.6327C>A (p.Val2109=) c.1717-9177C>A (n.1717-9177C>A) c.6417C>A (p.Val2139=) c.4404C>A (p.Val1468=) c.3954C>A (p.Val1318=) c.3162C>A (p.Val1054=) | |
| 8 | g.60853052C>G | CA461105232 | CHD7 | c.6327C>G (p.Val2109=) c.1717-9177C>G (n.1717-9177C>G) c.6417C>G (p.Val2139=) c.4404C>G (p.Val1468=) c.3954C>G (p.Val1318=) c.3162C>G (p.Val1054=) | gnomAD v4 |
| 8 | g.60853052C>T | CA461105231 | CHD7 | c.6327C>T (p.Val2109=) c.1717-9177C>T (n.1717-9177C>T) c.6417C>T (p.Val2139=) c.4404C>T (p.Val1468=) c.3954C>T (p.Val1318=) c.3162C>T (p.Val1054=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853053A>C | CA371324802 | CHD7 | c.6328A>C (p.Ser2110Arg) c.1717-9176A>C (n.1717-9176A>C) c.6418A>C (p.Ser2140Arg) c.4405A>C (p.Ser1469Arg) c.3955A>C (p.Ser1319Arg) c.3163A>C (p.Ser1055Arg) | |
| 8 | g.60853053A>G | CA371324803 | CHD7 | c.6328A>G (p.Ser2110Gly) c.1717-9176A>G (n.1717-9176A>G) c.6418A>G (p.Ser2140Gly) c.4405A>G (p.Ser1469Gly) c.3955A>G (p.Ser1319Gly) c.3163A>G (p.Ser1055Gly) | |
| 8 | g.60853053A>T | CA371324805 | CHD7 | c.6328A>T (p.Ser2110Cys) c.1717-9176A>T (n.1717-9176A>T) c.6418A>T (p.Ser2140Cys) c.4405A>T (p.Ser1469Cys) c.3955A>T (p.Ser1319Cys) c.3163A>T (p.Ser1055Cys) | |
| 8 | g.60853054G>A | CA371324806 | CHD7 | c.6329G>A (p.Ser2110Asn) c.1717-9175G>A (n.1717-9175G>A) c.6419G>A (p.Ser2140Asn) c.4406G>A (p.Ser1469Asn) c.3956G>A (p.Ser1319Asn) c.3164G>A (p.Ser1055Asn) | |
| 8 | g.60853054G>C | CA371324807 | CHD7 | c.6329G>C (p.Ser2110Thr) c.1717-9175G>C (n.1717-9175G>C) c.6419G>C (p.Ser2140Thr) c.4406G>C (p.Ser1469Thr) c.3956G>C (p.Ser1319Thr) c.3164G>C (p.Ser1055Thr) | |
| 8 | g.60853054G>T | CA371324809 | CHD7 | c.6329G>T (p.Ser2110Ile) c.1717-9175G>T (n.1717-9175G>T) c.6419G>T (p.Ser2140Ile) c.4406G>T (p.Ser1469Ile) c.3956G>T (p.Ser1319Ile) c.3164G>T (p.Ser1055Ile) | gnomAD v4 |
| 8 | g.60853055T>A | CA371324812 | CHD7 | c.6330T>A (p.Ser2110Arg) c.1717-9174T>A (n.1717-9174T>A) c.6420T>A (p.Ser2140Arg) c.4407T>A (p.Ser1469Arg) c.3957T>A (p.Ser1319Arg) c.3165T>A (p.Ser1055Arg) | |
| 8 | g.60853055T>C | CA461105234 | CHD7 | c.6330T>C (p.Ser2110=) c.1717-9174T>C (n.1717-9174T>C) c.6420T>C (p.Ser2140=) c.4407T>C (p.Ser1469=) c.3957T>C (p.Ser1319=) c.3165T>C (p.Ser1055=) | |
| 8 | g.60853055T>G | CA371324810 | CHD7 | c.6330T>G (p.Ser2110Arg) c.1717-9174T>G (n.1717-9174T>G) c.6420T>G (p.Ser2140Arg) c.4407T>G (p.Ser1469Arg) c.3957T>G (p.Ser1319Arg) c.3165T>G (p.Ser1055Arg) | |
| 8 | g.60853056C>A | CA461105235 | CHD7 | c.6331C>A (p.Arg2111=) c.1717-9173C>A (n.1717-9173C>A) c.6421C>A (p.Arg2141=) c.4408C>A (p.Arg1470=) c.3958C>A (p.Arg1320=) c.3166C>A (p.Arg1056=) | |
| 8 | g.60853056C>G | CA371324813 | CHD7 | c.6331C>G (p.Arg2111Gly) c.1717-9173C>G (n.1717-9173C>G) c.6421C>G (p.Arg2141Gly) c.4408C>G (p.Arg1470Gly) c.3958C>G (p.Arg1320Gly) c.3166C>G (p.Arg1056Gly) | |
| 8 | g.60853056C>T | CA371324814 | CHD7 | c.6331C>T (p.Arg2111Trp) c.1717-9173C>T (n.1717-9173C>T) c.6421C>T (p.Arg2141Trp) c.4408C>T (p.Arg1470Trp) c.3958C>T (p.Arg1320Trp) c.3166C>T (p.Arg1056Trp) | ClinVar gnomAD v4 |
| 8 | g.60853057G>A | CA371324815 | CHD7 | c.6332G>A (p.Arg2111Gln) c.1717-9172G>A (n.1717-9172G>A) c.6422G>A (p.Arg2141Gln) c.4409G>A (p.Arg1470Gln) c.3959G>A (p.Arg1320Gln) c.3167G>A (p.Arg1056Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853057G>C | CA371324816 | CHD7 | c.6332G>C (p.Arg2111Pro) c.1717-9172G>C (n.1717-9172G>C) c.6422G>C (p.Arg2141Pro) c.4409G>C (p.Arg1470Pro) c.3959G>C (p.Arg1320Pro) c.3167G>C (p.Arg1056Pro) | |
| 8 | g.60853057G= | CA1788103498 | CHD7 | c.6332G= (p.Arg2111=) c.1717-9172G= (n.1717-9172G=) c.6422G= (p.Arg2141=) c.4409G= (p.Arg1470=) c.3959G= (p.Arg1320=) c.3167G= (p.Arg1056=) | |
| 8 | g.60853057G>T | CA371324817 | CHD7 | c.6332G>T (p.Arg2111Leu) c.1717-9172G>T (n.1717-9172G>T) c.6422G>T (p.Arg2141Leu) c.4409G>T (p.Arg1470Leu) c.3959G>T (p.Arg1320Leu) c.3167G>T (p.Arg1056Leu) | |
| 8 | g.60853058G>A | CA461105239 | CHD7 | c.6333G>A (p.Arg2111=) c.1717-9171G>A (n.1717-9171G>A) c.6423G>A (p.Arg2141=) c.4410G>A (p.Arg1470=) c.3960G>A (p.Arg1320=) c.3168G>A (p.Arg1056=) | ClinVar dbSNP |
| 8 | g.60853058G>C | CA461105240 | CHD7 | c.6333G>C (p.Arg2111=) c.1717-9171G>C (n.1717-9171G>C) c.6423G>C (p.Arg2141=) c.4410G>C (p.Arg1470=) c.3960G>C (p.Arg1320=) c.3168G>C (p.Arg1056=) | |
| 8 | g.60853058G= | CA1788103508 | CHD7 | c.6333G= (p.Arg2111=) c.1717-9171G= (n.1717-9171G=) c.6423G= (p.Arg2141=) c.4410G= (p.Arg1470=) c.3960G= (p.Arg1320=) c.3168G= (p.Arg1056=) | |
| 8 | g.60853058G>T | CA461105241 | CHD7 | c.6333G>T (p.Arg2111=) c.1717-9171G>T (n.1717-9171G>T) c.6423G>T (p.Arg2141=) c.4410G>T (p.Arg1470=) c.3960G>T (p.Arg1320=) c.3168G>T (p.Arg1056=) | |
| 8 | g.60853059A>C | CA371324819 | CHD7 | c.6334A>C (p.Thr2112Pro) c.1717-9170A>C (n.1717-9170A>C) c.6424A>C (p.Thr2142Pro) c.4411A>C (p.Thr1471Pro) c.3961A>C (p.Thr1321Pro) c.3169A>C (p.Thr1057Pro) | |
| 8 | g.60853059A>G | CA371324821 | CHD7 | c.6334A>G (p.Thr2112Ala) c.1717-9170A>G (n.1717-9170A>G) c.6424A>G (p.Thr2142Ala) c.4411A>G (p.Thr1471Ala) c.3961A>G (p.Thr1321Ala) c.3169A>G (p.Thr1057Ala) | |
| 8 | g.60853059A>T | CA371324822 | CHD7 | c.6334A>T (p.Thr2112Ser) c.1717-9170A>T (n.1717-9170A>T) c.6424A>T (p.Thr2142Ser) c.4411A>T (p.Thr1471Ser) c.3961A>T (p.Thr1321Ser) c.3169A>T (p.Thr1057Ser) | |
| 8 | g.60853060C>A | CA371324824 | CHD7 | c.6335C>A (p.Thr2112Lys) c.1717-9169C>A (n.1717-9169C>A) c.6425C>A (p.Thr2142Lys) c.4412C>A (p.Thr1471Lys) c.3962C>A (p.Thr1321Lys) c.3170C>A (p.Thr1057Lys) | |
| 8 | g.60853060C= | CA1788103513 | CHD7 | c.6335C= (p.Thr2112=) c.1717-9169C= (n.1717-9169C=) c.6425C= (p.Thr2142=) c.4412C= (p.Thr1471=) c.3962C= (p.Thr1321=) c.3170C= (p.Thr1057=) | |
| 8 | g.60853060C>G | CA371324826 | CHD7 | c.6335C>G (p.Thr2112Arg) c.1717-9169C>G (n.1717-9169C>G) c.6425C>G (p.Thr2142Arg) c.4412C>G (p.Thr1471Arg) c.3962C>G (p.Thr1321Arg) c.3170C>G (p.Thr1057Arg) | |
| 8 | g.60853060C>T | CA4760573 | CHD7 | c.6335C>T (p.Thr2112Met) c.1717-9169C>T (n.1717-9169C>T) c.6425C>T (p.Thr2142Met) c.4412C>T (p.Thr1471Met) c.3962C>T (p.Thr1321Met) c.3170C>T (p.Thr1057Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60853061G>A | CA461105246 | CHD7 | c.6336G>A (p.Thr2112=) c.1717-9168G>A (n.1717-9168G>A) c.6426G>A (p.Thr2142=) c.4413G>A (p.Thr1471=) c.3963G>A (p.Thr1321=) c.3171G>A (p.Thr1057=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853061G>C | CA4760574 | CHD7 | c.6336G>C (p.Thr2112=) c.1717-9168G>C (n.1717-9168G>C) c.6426G>C (p.Thr2142=) c.4413G>C (p.Thr1471=) c.3963G>C (p.Thr1321=) c.3171G>C (p.Thr1057=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853061G= | CA1788103543 | CHD7 | c.6336G= (p.Thr2112=) c.1717-9168G= (n.1717-9168G=) c.6426G= (p.Thr2142=) c.4413G= (p.Thr1471=) c.3963G= (p.Thr1321=) c.3171G= (p.Thr1057=) | |
| 8 | g.60853061G>T | CA461105247 | CHD7 | c.6336G>T (p.Thr2112=) c.1717-9168G>T (n.1717-9168G>T) c.6426G>T (p.Thr2142=) c.4413G>T (p.Thr1471=) c.3963G>T (p.Thr1321=) c.3171G>T (p.Thr1057=) | gnomAD v4 |
| 8 | g.60853062G>A | CA371324828 | CHD7 | c.6337G>A (p.Asp2113Asn) c.1717-9167G>A (n.1717-9167G>A) c.6427G>A (p.Asp2143Asn) c.4414G>A (p.Asp1472Asn) c.3964G>A (p.Asp1322Asn) c.3172G>A (p.Asp1058Asn) | |
| 8 | g.60853062G>C | CA371324829 | CHD7 | c.6337G>C (p.Asp2113His) c.1717-9167G>C (n.1717-9167G>C) c.6427G>C (p.Asp2143His) c.4414G>C (p.Asp1472His) c.3964G>C (p.Asp1322His) c.3172G>C (p.Asp1058His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853062G= | CA1788103549 | CHD7 | c.6337G= (p.Asp2113=) c.1717-9167G= (n.1717-9167G=) c.6427G= (p.Asp2143=) c.4414G= (p.Asp1472=) c.3964G= (p.Asp1322=) c.3172G= (p.Asp1058=) | |
| 8 | g.60853062G>T | CA371324830 | CHD7 | c.6337G>T (p.Asp2113Tyr) c.1717-9167G>T (n.1717-9167G>T) c.6427G>T (p.Asp2143Tyr) c.4414G>T (p.Asp1472Tyr) c.3964G>T (p.Asp1322Tyr) c.3172G>T (p.Asp1058Tyr) | gnomAD v4 |
| 8 | g.60853063A>C | CA371324831 | CHD7 | c.6338A>C (p.Asp2113Ala) c.1717-9166A>C (n.1717-9166A>C) c.6428A>C (p.Asp2143Ala) c.4415A>C (p.Asp1472Ala) c.3965A>C (p.Asp1322Ala) c.3173A>C (p.Asp1058Ala) | |
| 8 | g.60853063A>G | CA371324834 | CHD7 | c.6338A>G (p.Asp2113Gly) c.1717-9166A>G (n.1717-9166A>G) c.6428A>G (p.Asp2143Gly) c.4415A>G (p.Asp1472Gly) c.3965A>G (p.Asp1322Gly) c.3173A>G (p.Asp1058Gly) | |
| 8 | g.60853063A>T | CA371324832 | CHD7 | c.6338A>T (p.Asp2113Val) c.1717-9166A>T (n.1717-9166A>T) c.6428A>T (p.Asp2143Val) c.4415A>T (p.Asp1472Val) c.3965A>T (p.Asp1322Val) c.3173A>T (p.Asp1058Val) | |
| 8 | g.60853064T>A | CA371324836 | CHD7 | c.6339T>A (p.Asp2113Glu) c.1717-9165T>A (n.1717-9165T>A) c.6429T>A (p.Asp2143Glu) c.4416T>A (p.Asp1472Glu) c.3966T>A (p.Asp1322Glu) c.3174T>A (p.Asp1058Glu) | |
| 8 | g.60853064T>C | CA461105250 | CHD7 | c.6339T>C (p.Asp2113=) c.1717-9165T>C (n.1717-9165T>C) c.6429T>C (p.Asp2143=) c.4416T>C (p.Asp1472=) c.3966T>C (p.Asp1322=) c.3174T>C (p.Asp1058=) | |
| 8 | g.60853064T>G | CA371324838 | CHD7 | c.6339T>G (p.Asp2113Glu) c.1717-9165T>G (n.1717-9165T>G) c.6429T>G (p.Asp2143Glu) c.4416T>G (p.Asp1472Glu) c.3966T>G (p.Asp1322Glu) c.3174T>G (p.Asp1058Glu) | |
| 8 | g.60853065T>A | CA371324839 | CHD7 | c.6340T>A (p.Tyr2114Asn) c.1717-9164T>A (n.1717-9164T>A) c.6430T>A (p.Tyr2144Asn) c.4417T>A (p.Tyr1473Asn) c.3967T>A (p.Tyr1323Asn) c.3175T>A (p.Tyr1059Asn) | |
| 8 | g.60853065T>C | CA371324840 | CHD7 | c.6340T>C (p.Tyr2114His) c.1717-9164T>C (n.1717-9164T>C) c.6430T>C (p.Tyr2144His) c.4417T>C (p.Tyr1473His) c.3967T>C (p.Tyr1323His) c.3175T>C (p.Tyr1059His) | |
| 8 | g.60853065T>G | CA371324841 | CHD7 | c.6340T>G (p.Tyr2114Asp) c.1717-9164T>G (n.1717-9164T>G) c.6430T>G (p.Tyr2144Asp) c.4417T>G (p.Tyr1473Asp) c.3967T>G (p.Tyr1323Asp) c.3175T>G (p.Tyr1059Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853065T= | CA1788103561 | CHD7 | c.6340T= (p.Tyr2114=) c.1717-9164T= (n.1717-9164T=) c.6430T= (p.Tyr2144=) c.4417T= (p.Tyr1473=) c.3967T= (p.Tyr1323=) c.3175T= (p.Tyr1059=) | |
| 8 | g.60853066A>C | CA371324842 | CHD7 | c.6341A>C (p.Tyr2114Ser) c.1717-9163A>C (n.1717-9163A>C) c.6431A>C (p.Tyr2144Ser) c.4418A>C (p.Tyr1473Ser) c.3968A>C (p.Tyr1323Ser) c.3176A>C (p.Tyr1059Ser) | |
| 8 | g.60853066A>G | CA371324843 | CHD7 | c.6341A>G (p.Tyr2114Cys) c.1717-9163A>G (n.1717-9163A>G) c.6431A>G (p.Tyr2144Cys) c.4418A>G (p.Tyr1473Cys) c.3968A>G (p.Tyr1323Cys) c.3176A>G (p.Tyr1059Cys) | ClinVar gnomAD v4 |
| 8 | g.60853066A>T | CA371324844 | CHD7 | c.6341A>T (p.Tyr2114Phe) c.1717-9163A>T (n.1717-9163A>T) c.6431A>T (p.Tyr2144Phe) c.4418A>T (p.Tyr1473Phe) c.3968A>T (p.Tyr1323Phe) c.3176A>T (p.Tyr1059Phe) | |
| 8 | g.60853066_60853083dup | CA1788103564 | CHD7 | c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp) c.1717-9163_1717-9146dup (n.1717-9163_1717-9146dup) c.6431_6448dup (p.Asp2149_Pro2150insHisHisIleLeuAsnAsp) c.4418_4435dup (p.Asp1478_Pro1479insHisHisIleLeuAsnAsp) c.3968_3985dup (p.Asp1328_Pro1329insHisHisIleLeuAsnAsp) c.3176_3193dup (p.Asp1064_Pro1065insHisHisIleLeuAsnAsp) | ClinVar dbSNP |
| 8 | g.60853067T>A | CA371324845 | CHD7 | c.6342T>A (p.Tyr2114Ter) c.1717-9162T>A (n.1717-9162T>A) c.6432T>A (p.Tyr2144Ter) c.4419T>A (p.Tyr1473Ter) c.3969T>A (p.Tyr1323Ter) c.3177T>A (p.Tyr1059Ter) | |
| 8 | g.60853067T>C | CA461105255 | CHD7 | c.6342T>C (p.Tyr2114=) c.1717-9162T>C (n.1717-9162T>C) c.6432T>C (p.Tyr2144=) c.4419T>C (p.Tyr1473=) c.3969T>C (p.Tyr1323=) c.3177T>C (p.Tyr1059=) | |
| 8 | g.60853067T>G | CA371324847 | CHD7 | c.6342T>G (p.Tyr2114Ter) c.1717-9162T>G (n.1717-9162T>G) c.6432T>G (p.Tyr2144Ter) c.4419T>G (p.Tyr1473Ter) c.3969T>G (p.Tyr1323Ter) c.3177T>G (p.Tyr1059Ter) | |
| 8 | g.60853068C>A | CA371324848 | CHD7 | c.6343C>A (p.His2115Asn) c.1717-9161C>A (n.1717-9161C>A) c.6433C>A (p.His2145Asn) c.4420C>A (p.His1474Asn) c.3970C>A (p.His1324Asn) c.3178C>A (p.His1060Asn) | |
| 8 | g.60853068C= | CA1788103567 | CHD7 | c.6343C= (p.His2115=) c.1717-9161C= (n.1717-9161C=) c.6433C= (p.His2145=) c.4420C= (p.His1474=) c.3970C= (p.His1324=) c.3178C= (p.His1060=) | |
| 8 | g.60853068C>G | CA371324850 | CHD7 | c.6343C>G (p.His2115Asp) c.1717-9161C>G (n.1717-9161C>G) c.6433C>G (p.His2145Asp) c.4420C>G (p.His1474Asp) c.3970C>G (p.His1324Asp) c.3178C>G (p.His1060Asp) | |
| 8 | g.60853068C>T | CA177354088 | CHD7 | c.6343C>T (p.His2115Tyr) c.1717-9161C>T (n.1717-9161C>T) c.6433C>T (p.His2145Tyr) c.4420C>T (p.His1474Tyr) c.3970C>T (p.His1324Tyr) c.3178C>T (p.His1060Tyr) | dbSNP |
| 8 | g.60853069A>C | CA371324853 | CHD7 | c.6344A>C (p.His2115Pro) c.1717-9160A>C (n.1717-9160A>C) c.6434A>C (p.His2145Pro) c.4421A>C (p.His1474Pro) c.3971A>C (p.His1324Pro) c.3179A>C (p.His1060Pro) | |
| 8 | g.60853069A>G | CA371324851 | CHD7 | c.6344A>G (p.His2115Arg) c.1717-9160A>G (n.1717-9160A>G) c.6434A>G (p.His2145Arg) c.4421A>G (p.His1474Arg) c.3971A>G (p.His1324Arg) c.3179A>G (p.His1060Arg) | gnomAD v4 |
| 8 | g.60853069A>T | CA371324852 | CHD7 | c.6344A>T (p.His2115Leu) c.1717-9160A>T (n.1717-9160A>T) c.6434A>T (p.His2145Leu) c.4421A>T (p.His1474Leu) c.3971A>T (p.His1324Leu) c.3179A>T (p.His1060Leu) | gnomAD v4 |
| 8 | g.60853070C>A | CA371324854 | CHD7 | c.6345C>A (p.His2115Gln) c.1717-9159C>A (n.1717-9159C>A) c.6435C>A (p.His2145Gln) c.4422C>A (p.His1474Gln) c.3972C>A (p.His1324Gln) c.3180C>A (p.His1060Gln) | |
| 8 | g.60853070C= | CA1788103572 | CHD7 | c.6345C= (p.His2115=) c.1717-9159C= (n.1717-9159C=) c.6435C= (p.His2145=) c.4422C= (p.His1474=) c.3972C= (p.His1324=) c.3180C= (p.His1060=) | |
| 8 | g.60853070C>G | CA371324855 | CHD7 | c.6345C>G (p.His2115Gln) c.1717-9159C>G (n.1717-9159C>G) c.6435C>G (p.His2145Gln) c.4422C>G (p.His1474Gln) c.3972C>G (p.His1324Gln) c.3180C>G (p.His1060Gln) | |
| 8 | g.60853070C>T | CA461105260 | CHD7 | c.6345C>T (p.His2115=) c.1717-9159C>T (n.1717-9159C>T) c.6435C>T (p.His2145=) c.4422C>T (p.His1474=) c.3972C>T (p.His1324=) c.3180C>T (p.His1060=) | dbSNP |
| 8 | g.60853071A= | CA1788103576 | CHD7 | c.6346A= (p.Ile2116=) c.1717-9158A= (n.1717-9158A=) c.6436A= (p.Ile2146=) c.4423A= (p.Ile1475=) c.3973A= (p.Ile1325=) c.3181A= (p.Ile1061=) | |
| 8 | g.60853071A>C | CA371324856 | CHD7 | c.6346A>C (p.Ile2116Leu) c.1717-9158A>C (n.1717-9158A>C) c.6436A>C (p.Ile2146Leu) c.4423A>C (p.Ile1475Leu) c.3973A>C (p.Ile1325Leu) c.3181A>C (p.Ile1061Leu) | |
| 8 | g.60853071A>G | CA371324857 | CHD7 | c.6346A>G (p.Ile2116Val) c.1717-9158A>G (n.1717-9158A>G) c.6436A>G (p.Ile2146Val) c.4423A>G (p.Ile1475Val) c.3973A>G (p.Ile1325Val) c.3181A>G (p.Ile1061Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853071A>T | CA371324858 | CHD7 | c.6346A>T (p.Ile2116Phe) c.1717-9158A>T (n.1717-9158A>T) c.6436A>T (p.Ile2146Phe) c.4423A>T (p.Ile1475Phe) c.3973A>T (p.Ile1325Phe) c.3181A>T (p.Ile1061Phe) | |
| 8 | g.60853072T>A | CA371324859 | CHD7 | c.6347T>A (p.Ile2116Asn) c.1717-9157T>A (n.1717-9157T>A) c.6437T>A (p.Ile2146Asn) c.4424T>A (p.Ile1475Asn) c.3974T>A (p.Ile1325Asn) c.3182T>A (p.Ile1061Asn) | |
| 8 | g.60853072T>C | CA371324860 | CHD7 | c.6347T>C (p.Ile2116Thr) c.1717-9157T>C (n.1717-9157T>C) c.6437T>C (p.Ile2146Thr) c.4424T>C (p.Ile1475Thr) c.3974T>C (p.Ile1325Thr) c.3182T>C (p.Ile1061Thr) | |
| 8 | g.60853072T>G | CA371324861 | CHD7 | c.6347T>G (p.Ile2116Ser) c.1717-9157T>G (n.1717-9157T>G) c.6437T>G (p.Ile2146Ser) c.4424T>G (p.Ile1475Ser) c.3974T>G (p.Ile1325Ser) c.3182T>G (p.Ile1061Ser) | |
| 8 | g.60853073C>A | CA461105266 | CHD7 | c.6348C>A (p.Ile2116=) c.1717-9156C>A (n.1717-9156C>A) c.6438C>A (p.Ile2146=) c.4425C>A (p.Ile1475=) c.3975C>A (p.Ile1325=) c.3183C>A (p.Ile1061=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853073C= | CA1788103585 | CHD7 | c.6348C= (p.Ile2116=) c.1717-9156C= (n.1717-9156C=) c.6438C= (p.Ile2146=) c.4425C= (p.Ile1475=) c.3975C= (p.Ile1325=) c.3183C= (p.Ile1061=) | |
| 8 | g.60853073C>G | CA371324863 | CHD7 | c.6348C>G (p.Ile2116Met) c.1717-9156C>G (n.1717-9156C>G) c.6438C>G (p.Ile2146Met) c.4425C>G (p.Ile1475Met) c.3975C>G (p.Ile1325Met) c.3183C>G (p.Ile1061Met) | ClinVar gnomAD v4 |
| 8 | g.60853073C>T | CA461105267 | CHD7 | c.6348C>T (p.Ile2116=) c.1717-9156C>T (n.1717-9156C>T) c.6438C>T (p.Ile2146=) c.4425C>T (p.Ile1475=) c.3975C>T (p.Ile1325=) c.3183C>T (p.Ile1061=) | COSMIC |
| 8 | g.60853074C>A | CA371324864 | CHD7 | c.6349C>A (p.Leu2117Ile) c.1717-9155C>A (n.1717-9155C>A) c.6439C>A (p.Leu2147Ile) c.4426C>A (p.Leu1476Ile) c.3976C>A (p.Leu1326Ile) c.3184C>A (p.Leu1062Ile) | |
| 8 | g.60853074C= | CA1788103597 | CHD7 | c.6349C= (p.Leu2117=) c.1717-9155C= (n.1717-9155C=) c.6439C= (p.Leu2147=) c.4426C= (p.Leu1476=) c.3976C= (p.Leu1326=) c.3184C= (p.Leu1062=) | |
| 8 | g.60853074C>G | CA371324866 | CHD7 | c.6349C>G (p.Leu2117Val) c.1717-9155C>G (n.1717-9155C>G) c.6439C>G (p.Leu2147Val) c.4426C>G (p.Leu1476Val) c.3976C>G (p.Leu1326Val) c.3184C>G (p.Leu1062Val) | ClinVar |
| 8 | g.60853074C>T | CA4760575 | CHD7 | c.6349C>T (p.Leu2117Phe) c.1717-9155C>T (n.1717-9155C>T) c.6439C>T (p.Leu2147Phe) c.4426C>T (p.Leu1476Phe) c.3976C>T (p.Leu1326Phe) c.3184C>T (p.Leu1062Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853075T>A | CA371324867 | CHD7 | c.6350T>A (p.Leu2117His) c.1717-9154T>A (n.1717-9154T>A) c.6440T>A (p.Leu2147His) c.4427T>A (p.Leu1476His) c.3977T>A (p.Leu1326His) c.3185T>A (p.Leu1062His) | |
| 8 | g.60853075T>C | CA371324870 | CHD7 | c.6350T>C (p.Leu2117Pro) c.1717-9154T>C (n.1717-9154T>C) c.6440T>C (p.Leu2147Pro) c.4427T>C (p.Leu1476Pro) c.3977T>C (p.Leu1326Pro) c.3185T>C (p.Leu1062Pro) | |
| 8 | g.60853075T>G | CA371324869 | CHD7 | c.6350T>G (p.Leu2117Arg) c.1717-9154T>G (n.1717-9154T>G) c.6440T>G (p.Leu2147Arg) c.4427T>G (p.Leu1476Arg) c.3977T>G (p.Leu1326Arg) c.3185T>G (p.Leu1062Arg) | |
| 8 | g.60853076C>A | CA461105270 | CHD7 | c.6351C>A (p.Leu2117=) c.1717-9153C>A (n.1717-9153C>A) c.6441C>A (p.Leu2147=) c.4428C>A (p.Leu1476=) c.3978C>A (p.Leu1326=) c.3186C>A (p.Leu1062=) | gnomAD v4 |
| 8 | g.60853076C>G | CA461105272 | CHD7 | c.6351C>G (p.Leu2117=) c.1717-9153C>G (n.1717-9153C>G) c.6441C>G (p.Leu2147=) c.4428C>G (p.Leu1476=) c.3978C>G (p.Leu1326=) c.3186C>G (p.Leu1062=) | |
| 8 | g.60853076C>T | CA461105271 | CHD7 | c.6351C>T (p.Leu2117=) c.1717-9153C>T (n.1717-9153C>T) c.6441C>T (p.Leu2147=) c.4428C>T (p.Leu1476=) c.3978C>T (p.Leu1326=) c.3186C>T (p.Leu1062=) | |
| 8 | g.60853077A>C | CA371324872 | CHD7 | c.6352A>C (p.Asn2118His) c.1717-9152A>C (n.1717-9152A>C) c.6442A>C (p.Asn2148His) c.4429A>C (p.Asn1477His) c.3979A>C (p.Asn1327His) c.3187A>C (p.Asn1063His) | |
| 8 | g.60853077A>G | CA371324875 | CHD7 | c.6352A>G (p.Asn2118Asp) c.1717-9152A>G (n.1717-9152A>G) c.6442A>G (p.Asn2148Asp) c.4429A>G (p.Asn1477Asp) c.3979A>G (p.Asn1327Asp) c.3187A>G (p.Asn1063Asp) | COSMIC |
| 8 | g.60853077A>T | CA371324874 | CHD7 | c.6352A>T (p.Asn2118Tyr) c.1717-9152A>T (n.1717-9152A>T) c.6442A>T (p.Asn2148Tyr) c.4429A>T (p.Asn1477Tyr) c.3979A>T (p.Asn1327Tyr) c.3187A>T (p.Asn1063Tyr) | |
| 8 | g.60853078A= | CA1788103615 | CHD7 | c.6353A= (p.Asn2118=) c.1717-9151A= (n.1717-9151A=) c.6443A= (p.Asn2148=) c.4430A= (p.Asn1477=) c.3980A= (p.Asn1327=) c.3188A= (p.Asn1063=) | |
| 8 | g.60853078A>C | CA371324876 | CHD7 | c.6353A>C (p.Asn2118Thr) c.1717-9151A>C (n.1717-9151A>C) c.6443A>C (p.Asn2148Thr) c.4430A>C (p.Asn1477Thr) c.3980A>C (p.Asn1327Thr) c.3188A>C (p.Asn1063Thr) | |
| 8 | g.60853078A>G | CA4760576 | CHD7 | c.6353A>G (p.Asn2118Ser) c.1717-9151A>G (n.1717-9151A>G) c.6443A>G (p.Asn2148Ser) c.4430A>G (p.Asn1477Ser) c.3980A>G (p.Asn1327Ser) c.3188A>G (p.Asn1063Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853078A>T | CA371324879 | CHD7 | c.6353A>T (p.Asn2118Ile) c.1717-9151A>T (n.1717-9151A>T) c.6443A>T (p.Asn2148Ile) c.4430A>T (p.Asn1477Ile) c.3980A>T (p.Asn1327Ile) c.3188A>T (p.Asn1063Ile) | |
| 8 | g.60853079T>A | CA177354092 | CHD7 | c.6354T>A (p.Asn2118Lys) c.1717-9150T>A (n.1717-9150T>A) c.6444T>A (p.Asn2148Lys) c.4431T>A (p.Asn1477Lys) c.3981T>A (p.Asn1327Lys) c.3189T>A (p.Asn1063Lys) | dbSNP |
| 8 | g.60853079T>C | CA461105275 | CHD7 | c.6354T>C (p.Asn2118=) c.1717-9150T>C (n.1717-9150T>C) c.6444T>C (p.Asn2148=) c.4431T>C (p.Asn1477=) c.3981T>C (p.Asn1327=) c.3189T>C (p.Asn1063=) | |
| 8 | g.60853079T>G | CA371324881 | CHD7 | c.6354T>G (p.Asn2118Lys) c.1717-9150T>G (n.1717-9150T>G) c.6444T>G (p.Asn2148Lys) c.4431T>G (p.Asn1477Lys) c.3981T>G (p.Asn1327Lys) c.3189T>G (p.Asn1063Lys) | |
| 8 | g.60853079T= | CA1788103624 | CHD7 | c.6354T= (p.Asn2118=) c.1717-9150T= (n.1717-9150T=) c.6444T= (p.Asn2148=) c.4431T= (p.Asn1477=) c.3981T= (p.Asn1327=) c.3189T= (p.Asn1063=) | |
| 8 | g.60853080G>A | CA371324883 | CHD7 | c.6355G>A (p.Asp2119Asn) c.1717-9149G>A (n.1717-9149G>A) c.6445G>A (p.Asp2149Asn) c.4432G>A (p.Asp1478Asn) c.3982G>A (p.Asp1328Asn) c.3190G>A (p.Asp1064Asn) | |
| 8 | g.60853080G>C | CA371324884 | CHD7 | c.6355G>C (p.Asp2119His) c.1717-9149G>C (n.1717-9149G>C) c.6445G>C (p.Asp2149His) c.4432G>C (p.Asp1478His) c.3982G>C (p.Asp1328His) c.3190G>C (p.Asp1064His) | |
| 8 | g.60853080G>T | CA371324885 | CHD7 | c.6355G>T (p.Asp2119Tyr) c.1717-9149G>T (n.1717-9149G>T) c.6445G>T (p.Asp2149Tyr) c.4432G>T (p.Asp1478Tyr) c.3982G>T (p.Asp1328Tyr) c.3190G>T (p.Asp1064Tyr) | |
| 8 | g.60853081A= | CA1788103630 | CHD7 | c.6356A= (p.Asp2119=) c.1717-9148A= (n.1717-9148A=) c.6446A= (p.Asp2149=) c.4433A= (p.Asp1478=) c.3983A= (p.Asp1328=) c.3191A= (p.Asp1064=) | |
| 8 | g.60853081A>C | CA371324886 | CHD7 | c.6356A>C (p.Asp2119Ala) c.1717-9148A>C (n.1717-9148A>C) c.6446A>C (p.Asp2149Ala) c.4433A>C (p.Asp1478Ala) c.3983A>C (p.Asp1328Ala) c.3191A>C (p.Asp1064Ala) | |
| 8 | g.60853081A>G | CA271330 | CHD7 | c.6356A>G (p.Asp2119Gly) c.1717-9148A>G (n.1717-9148A>G) c.6446A>G (p.Asp2149Gly) c.4433A>G (p.Asp1478Gly) c.3983A>G (p.Asp1328Gly) c.3191A>G (p.Asp1064Gly) | ClinVar dbSNP |
| 8 | g.60853081A>T | CA371324888 | CHD7 | c.6356A>T (p.Asp2119Val) c.1717-9148A>T (n.1717-9148A>T) c.6446A>T (p.Asp2149Val) c.4433A>T (p.Asp1478Val) c.3983A>T (p.Asp1328Val) c.3191A>T (p.Asp1064Val) | |
| 8 | g.60853082C>A | CA371324889 | CHD7 | c.6357C>A (p.Asp2119Glu) c.1717-9147C>A (n.1717-9147C>A) c.6447C>A (p.Asp2149Glu) c.4434C>A (p.Asp1478Glu) c.3984C>A (p.Asp1328Glu) c.3192C>A (p.Asp1064Glu) | |
| 8 | g.60853082C>G | CA371324890 | CHD7 | c.6357C>G (p.Asp2119Glu) c.1717-9147C>G (n.1717-9147C>G) c.6447C>G (p.Asp2149Glu) c.4434C>G (p.Asp1478Glu) c.3984C>G (p.Asp1328Glu) c.3192C>G (p.Asp1064Glu) | |
| 8 | g.60853082C>T | CA461105279 | CHD7 | c.6357C>T (p.Asp2119=) c.1717-9147C>T (n.1717-9147C>T) c.6447C>T (p.Asp2149=) c.4434C>T (p.Asp1478=) c.3984C>T (p.Asp1328=) c.3192C>T (p.Asp1064=) | |
| 8 | g.60853083C>A | CA371324892 | CHD7 | c.6358C>A (p.Pro2120Thr) c.1717-9146C>A (n.1717-9146C>A) c.6448C>A (p.Pro2150Thr) c.4435C>A (p.Pro1479Thr) c.3985C>A (p.Pro1329Thr) c.3193C>A (p.Pro1065Thr) | |
| 8 | g.60853083C= | CA1788103639 | CHD7 | c.6358C= (p.Pro2120=) c.1717-9146C= (n.1717-9146C=) c.6448C= (p.Pro2150=) c.4435C= (p.Pro1479=) c.3985C= (p.Pro1329=) c.3193C= (p.Pro1065=) | |
| 8 | g.60853083C>G | CA4760577 | CHD7 | c.6358C>G (p.Pro2120Ala) c.1717-9146C>G (n.1717-9146C>G) c.6448C>G (p.Pro2150Ala) c.4435C>G (p.Pro1479Ala) c.3985C>G (p.Pro1329Ala) c.3193C>G (p.Pro1065Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853083C>T | CA371324894 | CHD7 | c.6358C>T (p.Pro2120Ser) c.1717-9146C>T (n.1717-9146C>T) c.6448C>T (p.Pro2150Ser) c.4435C>T (p.Pro1479Ser) c.3985C>T (p.Pro1329Ser) c.3193C>T (p.Pro1065Ser) | |
| 8 | g.60853084C>A | CA371324895 | CHD7 | c.6359C>A (p.Pro2120His) c.1717-9145C>A (n.1717-9145C>A) c.6449C>A (p.Pro2150His) c.4436C>A (p.Pro1479His) c.3986C>A (p.Pro1329His) c.3194C>A (p.Pro1065His) | |
| 8 | g.60853084C>G | CA371324896 | CHD7 | c.6359C>G (p.Pro2120Arg) c.1717-9145C>G (n.1717-9145C>G) c.6449C>G (p.Pro2150Arg) c.4436C>G (p.Pro1479Arg) c.3986C>G (p.Pro1329Arg) c.3194C>G (p.Pro1065Arg) | |
| 8 | g.60853084C>T | CA371324898 | CHD7 | c.6359C>T (p.Pro2120Leu) c.1717-9145C>T (n.1717-9145C>T) c.6449C>T (p.Pro2150Leu) c.4436C>T (p.Pro1479Leu) c.3986C>T (p.Pro1329Leu) c.3194C>T (p.Pro1065Leu) | |
| 8 | g.60853085T>A | CA4760578 | CHD7 | c.6360T>A (p.Pro2120=) c.1717-9144T>A (n.1717-9144T>A) c.6450T>A (p.Pro2150=) c.4437T>A (p.Pro1479=) c.3987T>A (p.Pro1329=) c.3195T>A (p.Pro1065=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853085T>C | CA461105284 | CHD7 | c.6360T>C (p.Pro2120=) c.1717-9144T>C (n.1717-9144T>C) c.6450T>C (p.Pro2150=) c.4437T>C (p.Pro1479=) c.3987T>C (p.Pro1329=) c.3195T>C (p.Pro1065=) | |
| 8 | g.60853085T>G | CA461105286 | CHD7 | c.6360T>G (p.Pro2120=) c.1717-9144T>G (n.1717-9144T>G) c.6450T>G (p.Pro2150=) c.4437T>G (p.Pro1479=) c.3987T>G (p.Pro1329=) c.3195T>G (p.Pro1065=) | |
| 8 | g.60853085T= | CA1788103644 | CHD7 | c.6360T= (p.Pro2120=) c.1717-9144T= (n.1717-9144T=) c.6450T= (p.Pro2150=) c.4437T= (p.Pro1479=) c.3987T= (p.Pro1329=) c.3195T= (p.Pro1065=) | |
| 8 | g.60853086G>A | CA371324900 | CHD7 | c.6361G>A (p.Glu2121Lys) c.1717-9143G>A (n.1717-9143G>A) c.6451G>A (p.Glu2151Lys) c.4438G>A (p.Glu1480Lys) c.3988G>A (p.Glu1330Lys) c.3196G>A (p.Glu1066Lys) | |
| 8 | g.60853086G>C | CA371324902 | CHD7 | c.6361G>C (p.Glu2121Gln) c.1717-9143G>C (n.1717-9143G>C) c.6451G>C (p.Glu2151Gln) c.4438G>C (p.Glu1480Gln) c.3988G>C (p.Glu1330Gln) c.3196G>C (p.Glu1066Gln) | |
| 8 | g.60853086G>T | CA371324903 | CHD7 | c.6361G>T (p.Glu2121Ter) c.1717-9143G>T (n.1717-9143G>T) c.6451G>T (p.Glu2151Ter) c.4438G>T (p.Glu1480Ter) c.3988G>T (p.Glu1330Ter) c.3196G>T (p.Glu1066Ter) | |
| 8 | g.60853087A>C | CA371324904 | CHD7 | c.6362A>C (p.Glu2121Ala) c.1717-9142A>C (n.1717-9142A>C) c.6452A>C (p.Glu2151Ala) c.4439A>C (p.Glu1480Ala) c.3989A>C (p.Glu1330Ala) c.3197A>C (p.Glu1066Ala) | |
| 8 | g.60853087A>G | CA371324905 | CHD7 | c.6362A>G (p.Glu2121Gly) c.1717-9142A>G (n.1717-9142A>G) c.6452A>G (p.Glu2151Gly) c.4439A>G (p.Glu1480Gly) c.3989A>G (p.Glu1330Gly) c.3197A>G (p.Glu1066Gly) | |
| 8 | g.60853087A>T | CA371324907 | CHD7 | c.6362A>T (p.Glu2121Val) c.1717-9142A>T (n.1717-9142A>T) c.6452A>T (p.Glu2151Val) c.4439A>T (p.Glu1480Val) c.3989A>T (p.Glu1330Val) c.3197A>T (p.Glu1066Val) | |
| 8 | g.60853088G>A | CA461105293 | CHD7 | c.6363G>A (p.Glu2121=) c.1717-9141G>A (n.1717-9141G>A) c.6453G>A (p.Glu2151=) c.4440G>A (p.Glu1480=) c.3990G>A (p.Glu1330=) c.3198G>A (p.Glu1066=) | |
| 8 | g.60853088G>C | CA371324910 | CHD7 | c.6363G>C (p.Glu2121Asp) c.1717-9141G>C (n.1717-9141G>C) c.6453G>C (p.Glu2151Asp) c.4440G>C (p.Glu1480Asp) c.3990G>C (p.Glu1330Asp) c.3198G>C (p.Glu1066Asp) | |
| 8 | g.60853088G>T | CA371324908 | CHD7 | c.6363G>T (p.Glu2121Asp) c.1717-9141G>T (n.1717-9141G>T) c.6453G>T (p.Glu2151Asp) c.4440G>T (p.Glu1480Asp) c.3990G>T (p.Glu1330Asp) c.3198G>T (p.Glu1066Asp) | |
| 8 | g.60853089T>A | CA371324912 | CHD7 | c.6364T>A (p.Leu2122Ile) c.1717-9140T>A (n.1717-9140T>A) c.6454T>A (p.Leu2152Ile) c.4441T>A (p.Leu1481Ile) c.3991T>A (p.Leu1331Ile) c.3199T>A (p.Leu1067Ile) | |
| 8 | g.60853089T>C | CA461105295 | CHD7 | c.6364T>C (p.Leu2122=) c.1717-9140T>C (n.1717-9140T>C) c.6454T>C (p.Leu2152=) c.4441T>C (p.Leu1481=) c.3991T>C (p.Leu1331=) c.3199T>C (p.Leu1067=) | |
| 8 | g.60853089T>G | CA371324913 | CHD7 | c.6364T>G (p.Leu2122Val) c.1717-9140T>G (n.1717-9140T>G) c.6454T>G (p.Leu2152Val) c.4441T>G (p.Leu1481Val) c.3991T>G (p.Leu1331Val) c.3199T>G (p.Leu1067Val) | |
| 8 | g.60853090T>A | CA371324914 | CHD7 | c.6365T>A (p.Leu2122Ter) c.1717-9139T>A (n.1717-9139T>A) c.6455T>A (p.Leu2152Ter) c.4442T>A (p.Leu1481Ter) c.3992T>A (p.Leu1331Ter) c.3200T>A (p.Leu1067Ter) | |
| 8 | g.60853090T>C | CA371324916 | CHD7 | c.6365T>C (p.Leu2122Ser) c.1717-9139T>C (n.1717-9139T>C) c.6455T>C (p.Leu2152Ser) c.4442T>C (p.Leu1481Ser) c.3992T>C (p.Leu1331Ser) c.3200T>C (p.Leu1067Ser) | |
| 8 | g.60853090T>G | CA371324917 | CHD7 | c.6365T>G (p.Leu2122Ter) c.1717-9139T>G (n.1717-9139T>G) c.6455T>G (p.Leu2152Ter) c.4442T>G (p.Leu1481Ter) c.3992T>G (p.Leu1331Ter) c.3200T>G (p.Leu1067Ter) | |
| 8 | g.60853091A>C | CA371324919 | CHD7 | c.6366A>C (p.Leu2122Phe) c.1717-9138A>C (n.1717-9138A>C) c.6456A>C (p.Leu2152Phe) c.4443A>C (p.Leu1481Phe) c.3993A>C (p.Leu1331Phe) c.3201A>C (p.Leu1067Phe) | |
| 8 | g.60853091A>G | CA461105302 | CHD7 | c.6366A>G (p.Leu2122=) c.1717-9138A>G (n.1717-9138A>G) c.6456A>G (p.Leu2152=) c.4443A>G (p.Leu1481=) c.3993A>G (p.Leu1331=) c.3201A>G (p.Leu1067=) | gnomAD v4 COSMIC |
| 8 | g.60853091A>T | CA371324920 | CHD7 | c.6366A>T (p.Leu2122Phe) c.1717-9138A>T (n.1717-9138A>T) c.6456A>T (p.Leu2152Phe) c.4443A>T (p.Leu1481Phe) c.3993A>T (p.Leu1331Phe) c.3201A>T (p.Leu1067Phe) | |
| 8 | g.60853092T>A | CA371324921 | CHD7 | c.6367T>A (p.Ser2123Thr) c.1717-9137T>A (n.1717-9137T>A) c.6457T>A (p.Ser2153Thr) c.4444T>A (p.Ser1482Thr) c.3994T>A (p.Ser1332Thr) c.3202T>A (p.Ser1068Thr) | gnomAD v4 |
| 8 | g.60853092T>C | CA371324923 | CHD7 | c.6367T>C (p.Ser2123Pro) c.1717-9137T>C (n.1717-9137T>C) c.6457T>C (p.Ser2153Pro) c.4444T>C (p.Ser1482Pro) c.3994T>C (p.Ser1332Pro) c.3202T>C (p.Ser1068Pro) | |
| 8 | g.60853092T>G | CA371324924 | CHD7 | c.6367T>G (p.Ser2123Ala) c.1717-9137T>G (n.1717-9137T>G) c.6457T>G (p.Ser2153Ala) c.4444T>G (p.Ser1482Ala) c.3994T>G (p.Ser1332Ala) c.3202T>G (p.Ser1068Ala) | |
| 8 | g.60853093C>A | CA371324927 | CHD7 | c.6368C>A (p.Ser2123Tyr) c.1717-9136C>A (n.1717-9136C>A) c.6458C>A (p.Ser2153Tyr) c.4445C>A (p.Ser1482Tyr) c.3995C>A (p.Ser1332Tyr) c.3203C>A (p.Ser1068Tyr) | |
| 8 | g.60853093C>G | CA371324929 | CHD7 | c.6368C>G (p.Ser2123Cys) c.1717-9136C>G (n.1717-9136C>G) c.6458C>G (p.Ser2153Cys) c.4445C>G (p.Ser1482Cys) c.3995C>G (p.Ser1332Cys) c.3203C>G (p.Ser1068Cys) | |
| 8 | g.60853093C>T | CA371324930 | CHD7 | c.6368C>T (p.Ser2123Phe) c.1717-9136C>T (n.1717-9136C>T) c.6458C>T (p.Ser2153Phe) c.4445C>T (p.Ser1482Phe) c.3995C>T (p.Ser1332Phe) c.3203C>T (p.Ser1068Phe) | COSMIC |
| 8 | g.60853094C>A | CA461105307 | CHD7 | c.6369C>A (p.Ser2123=) c.1717-9135C>A (n.1717-9135C>A) c.6459C>A (p.Ser2153=) c.4446C>A (p.Ser1482=) c.3996C>A (p.Ser1332=) c.3204C>A (p.Ser1068=) | |
| 8 | g.60853094C= | CA1788103650 | CHD7 | c.6369C= (p.Ser2123=) c.1717-9135C= (n.1717-9135C=) c.6459C= (p.Ser2153=) c.4446C= (p.Ser1482=) c.3996C= (p.Ser1332=) c.3204C= (p.Ser1068=) | |
| 8 | g.60853094C>G | CA461105308 | CHD7 | c.6369C>G (p.Ser2123=) c.1717-9135C>G (n.1717-9135C>G) c.6459C>G (p.Ser2153=) c.4446C>G (p.Ser1482=) c.3996C>G (p.Ser1332=) c.3204C>G (p.Ser1068=) | |
| 8 | g.60853094C>T | CA461105310 | CHD7 | c.6369C>T (p.Ser2123=) c.1717-9135C>T (n.1717-9135C>T) c.6459C>T (p.Ser2153=) c.4446C>T (p.Ser1482=) c.3996C>T (p.Ser1332=) c.3204C>T (p.Ser1068=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853097_60853099del | CA2697549948 | CHD7 | c.6372_6374del (p.Phe2124del) c.1717-9132_1717-9130del (n.1717-9132_1717-9130del) c.6462_6464del (p.Phe2154del) c.4449_4451del (p.Phe1483del) c.3999_4001del (p.Phe1333del) c.3207_3209del (p.Phe1069del) | ClinVar |
| 8 | g.60853095T>A | CA371324933 | CHD7 | c.6370T>A (p.Phe2124Ile) c.1717-9134T>A (n.1717-9134T>A) c.6460T>A (p.Phe2154Ile) c.4447T>A (p.Phe1483Ile) c.3997T>A (p.Phe1333Ile) c.3205T>A (p.Phe1069Ile) | |
| 8 | g.60853095T>C | CA371324934 | CHD7 | c.6370T>C (p.Phe2124Leu) c.1717-9134T>C (n.1717-9134T>C) c.6460T>C (p.Phe2154Leu) c.4447T>C (p.Phe1483Leu) c.3997T>C (p.Phe1333Leu) c.3205T>C (p.Phe1069Leu) | gnomAD v4 |
| 8 | g.60853095T>G | CA371324931 | CHD7 | c.6370T>G (p.Phe2124Val) c.1717-9134T>G (n.1717-9134T>G) c.6460T>G (p.Phe2154Val) c.4447T>G (p.Phe1483Val) c.3997T>G (p.Phe1333Val) c.3205T>G (p.Phe1069Val) | |
| 8 | g.60853096T>A | CA371324936 | CHD7 | c.6371T>A (p.Phe2124Tyr) c.1717-9133T>A (n.1717-9133T>A) c.6461T>A (p.Phe2154Tyr) c.4448T>A (p.Phe1483Tyr) c.3998T>A (p.Phe1333Tyr) c.3206T>A (p.Phe1069Tyr) | |
| 8 | g.60853096T>C | CA371324937 | CHD7 | c.6371T>C (p.Phe2124Ser) c.1717-9133T>C (n.1717-9133T>C) c.6461T>C (p.Phe2154Ser) c.4448T>C (p.Phe1483Ser) c.3998T>C (p.Phe1333Ser) c.3206T>C (p.Phe1069Ser) | ClinVar |
| 8 | g.60853096T>G | CA371324938 | CHD7 | c.6371T>G (p.Phe2124Cys) c.1717-9133T>G (n.1717-9133T>G) c.6461T>G (p.Phe2154Cys) c.4448T>G (p.Phe1483Cys) c.3998T>G (p.Phe1333Cys) c.3206T>G (p.Phe1069Cys) | |
| 8 | g.60853097C>A | CA371324940 | CHD7 | c.6372C>A (p.Phe2124Leu) c.1717-9132C>A (n.1717-9132C>A) c.6462C>A (p.Phe2154Leu) c.4449C>A (p.Phe1483Leu) c.3999C>A (p.Phe1333Leu) c.3207C>A (p.Phe1069Leu) | |
| 8 | g.60853097C>G | CA371324941 | CHD7 | c.6372C>G (p.Phe2124Leu) c.1717-9132C>G (n.1717-9132C>G) c.6462C>G (p.Phe2154Leu) c.4449C>G (p.Phe1483Leu) c.3999C>G (p.Phe1333Leu) c.3207C>G (p.Phe1069Leu) | ClinVar |
| 8 | g.60853097C>T | CA461105316 | CHD7 | c.6372C>T (p.Phe2124=) c.1717-9132C>T (n.1717-9132C>T) c.6462C>T (p.Phe2154=) c.4449C>T (p.Phe1483=) c.3999C>T (p.Phe1333=) c.3207C>T (p.Phe1069=) | |
| 8 | g.60853098T>A | CA371324945 | CHD7 | c.6373T>A (p.Leu2125Met) c.1717-9131T>A (n.1717-9131T>A) c.6463T>A (p.Leu2155Met) c.4450T>A (p.Leu1484Met) c.4000T>A (p.Leu1334Met) c.3208T>A (p.Leu1070Met) | |
| 8 | g.60853098T>C | CA4760579 | CHD7 | c.6373T>C (p.Leu2125=) c.1717-9131T>C (n.1717-9131T>C) c.6463T>C (p.Leu2155=) c.4450T>C (p.Leu1484=) c.4000T>C (p.Leu1334=) c.3208T>C (p.Leu1070=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853098T>G | CA371324944 | CHD7 | c.6373T>G (p.Leu2125Val) c.1717-9131T>G (n.1717-9131T>G) c.6463T>G (p.Leu2155Val) c.4450T>G (p.Leu1484Val) c.4000T>G (p.Leu1334Val) c.3208T>G (p.Leu1070Val) | |
| 8 | g.60853098T= | CA1788103657 | CHD7 | c.6373T= (p.Leu2125=) c.1717-9131T= (n.1717-9131T=) c.6463T= (p.Leu2155=) c.4450T= (p.Leu1484=) c.4000T= (p.Leu1334=) c.3208T= (p.Leu1070=) | |
| 8 | g.60853099T>A | CA371324947 | CHD7 | c.6374T>A (p.Leu2125Ter) c.1717-9130T>A (n.1717-9130T>A) c.6464T>A (p.Leu2155Ter) c.4451T>A (p.Leu1484Ter) c.4001T>A (p.Leu1334Ter) c.3209T>A (p.Leu1070Ter) | |
| 8 | g.60853099T>C | CA371324950 | CHD7 | c.6374T>C (p.Leu2125Ser) c.1717-9130T>C (n.1717-9130T>C) c.6464T>C (p.Leu2155Ser) c.4451T>C (p.Leu1484Ser) c.4001T>C (p.Leu1334Ser) c.3209T>C (p.Leu1070Ser) | |
| 8 | g.60853099T>G | CA371324952 | CHD7 | c.6374T>G (p.Leu2125Trp) c.1717-9130T>G (n.1717-9130T>G) c.6464T>G (p.Leu2155Trp) c.4451T>G (p.Leu1484Trp) c.4001T>G (p.Leu1334Trp) c.3209T>G (p.Leu1070Trp) | |
| 8 | g.60853100G>A | CA461105319 | CHD7 | c.6375G>A (p.Leu2125=) c.1717-9129G>A (n.1717-9129G>A) c.6465G>A (p.Leu2155=) c.4452G>A (p.Leu1484=) c.4002G>A (p.Leu1334=) c.3210G>A (p.Leu1070=) | |
| 8 | g.60853100G>C | CA371324954 | CHD7 | c.6375G>C (p.Leu2125Phe) c.1717-9129G>C (n.1717-9129G>C) c.6465G>C (p.Leu2155Phe) c.4452G>C (p.Leu1484Phe) c.4002G>C (p.Leu1334Phe) c.3210G>C (p.Leu1070Phe) | |
| 8 | g.60853100G>T | CA371324955 | CHD7 | c.6375G>T (p.Leu2125Phe) c.1717-9129G>T (n.1717-9129G>T) c.6465G>T (p.Leu2155Phe) c.4452G>T (p.Leu1484Phe) c.4002G>T (p.Leu1334Phe) c.3210G>T (p.Leu1070Phe) | |
| 8 | g.60853101G>A | CA371324960 | CHD7 | c.6376G>A (p.Asp2126Asn) c.1717-9128G>A (n.1717-9128G>A) c.6466G>A (p.Asp2156Asn) c.4453G>A (p.Asp1485Asn) c.4003G>A (p.Asp1335Asn) c.3211G>A (p.Asp1071Asn) | gnomAD v4 |
| 8 | g.60853101G>C | CA371324957 | CHD7 | c.6376G>C (p.Asp2126His) c.1717-9128G>C (n.1717-9128G>C) c.6466G>C (p.Asp2156His) c.4453G>C (p.Asp1485His) c.4003G>C (p.Asp1335His) c.3211G>C (p.Asp1071His) | dbSNP gnomAD v4 |
| 8 | g.60853101G= | CA1788103667 | CHD7 | c.6376G= (p.Asp2126=) c.1717-9128G= (n.1717-9128G=) c.6466G= (p.Asp2156=) c.4453G= (p.Asp1485=) c.4003G= (p.Asp1335=) c.3211G= (p.Asp1071=) | |
| 8 | g.60853101G>T | CA371324959 | CHD7 | c.6376G>T (p.Asp2126Tyr) c.1717-9128G>T (n.1717-9128G>T) c.6466G>T (p.Asp2156Tyr) c.4453G>T (p.Asp1485Tyr) c.4003G>T (p.Asp1335Tyr) c.3211G>T (p.Asp1071Tyr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853102A= | CA1788103677 | CHD7 | c.6377A= (p.Asp2126=) c.1717-9127A= (n.1717-9127A=) c.6467A= (p.Asp2156=) c.4454A= (p.Asp1485=) c.4004A= (p.Asp1335=) c.3212A= (p.Asp1071=) | |
| 8 | g.60853102A>C | CA371324962 | CHD7 | c.6377A>C (p.Asp2126Ala) c.1717-9127A>C (n.1717-9127A>C) c.6467A>C (p.Asp2156Ala) c.4454A>C (p.Asp1485Ala) c.4004A>C (p.Asp1335Ala) c.3212A>C (p.Asp1071Ala) | |
| 8 | g.60853102A>G | CA371324964 | CHD7 | c.6377A>G (p.Asp2126Gly) c.1717-9127A>G (n.1717-9127A>G) c.6467A>G (p.Asp2156Gly) c.4454A>G (p.Asp1485Gly) c.4004A>G (p.Asp1335Gly) c.3212A>G (p.Asp1071Gly) | |
| 8 | g.60853102A>T | CA16618677 | CHD7 | c.6377A>T (p.Asp2126Val) c.1717-9127A>T (n.1717-9127A>T) c.6467A>T (p.Asp2156Val) c.4454A>T (p.Asp1485Val) c.4004A>T (p.Asp1335Val) c.3212A>T (p.Asp1071Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60853103T>A | CA371324965 | CHD7 | c.6378T>A (p.Asp2126Glu) c.1717-9126T>A (n.1717-9126T>A) c.6468T>A (p.Asp2156Glu) c.4455T>A (p.Asp1485Glu) c.4005T>A (p.Asp1335Glu) c.3213T>A (p.Asp1071Glu) | |
| 8 | g.60853103T>C | CA461105322 | CHD7 | c.6378T>C (p.Asp2126=) c.1717-9126T>C (n.1717-9126T>C) c.6468T>C (p.Asp2156=) c.4455T>C (p.Asp1485=) c.4005T>C (p.Asp1335=) c.3213T>C (p.Asp1071=) | ClinVar |
| 8 | g.60853103T>G | CA371324967 | CHD7 | c.6378T>G (p.Asp2126Glu) c.1717-9126T>G (n.1717-9126T>G) c.6468T>G (p.Asp2156Glu) c.4455T>G (p.Asp1485Glu) c.4005T>G (p.Asp1335Glu) c.3213T>G (p.Asp1071Glu) | |
| 8 | g.60853104G>A | CA4760580 | CHD7 | c.6379G>A (p.Ala2127Thr) c.1717-9125G>A (n.1717-9125G>A) c.6469G>A (p.Ala2157Thr) c.4456G>A (p.Ala1486Thr) c.4006G>A (p.Ala1336Thr) c.3214G>A (p.Ala1072Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853104G>C | CA371324971 | CHD7 | c.6379G>C (p.Ala2127Pro) c.1717-9125G>C (n.1717-9125G>C) c.6469G>C (p.Ala2157Pro) c.4456G>C (p.Ala1486Pro) c.4006G>C (p.Ala1336Pro) c.3214G>C (p.Ala1072Pro) | |
| 8 | g.60853104G= | CA1788103684 | CHD7 | c.6379G= (p.Ala2127=) c.1717-9125G= (n.1717-9125G=) c.6469G= (p.Ala2157=) c.4456G= (p.Ala1486=) c.4006G= (p.Ala1336=) c.3214G= (p.Ala1072=) | |
| 8 | g.60853104G>T | CA371324969 | CHD7 | c.6379G>T (p.Ala2127Ser) c.1717-9125G>T (n.1717-9125G>T) c.6469G>T (p.Ala2157Ser) c.4456G>T (p.Ala1486Ser) c.4006G>T (p.Ala1336Ser) c.3214G>T (p.Ala1072Ser) | |
| 8 | g.60853105C>A | CA371324974 | CHD7 | c.6380C>A (p.Ala2127Glu) c.1717-9124C>A (n.1717-9124C>A) c.6470C>A (p.Ala2157Glu) c.4457C>A (p.Ala1486Glu) c.4007C>A (p.Ala1336Glu) c.3215C>A (p.Ala1072Glu) | |
| 8 | g.60853105C>G | CA371324975 | CHD7 | c.6380C>G (p.Ala2127Gly) c.1717-9124C>G (n.1717-9124C>G) c.6470C>G (p.Ala2157Gly) c.4457C>G (p.Ala1486Gly) c.4007C>G (p.Ala1336Gly) c.3215C>G (p.Ala1072Gly) | |
| 8 | g.60853105C>T | CA371324977 | CHD7 | c.6380C>T (p.Ala2127Val) c.1717-9124C>T (n.1717-9124C>T) c.6470C>T (p.Ala2157Val) c.4457C>T (p.Ala1486Val) c.4007C>T (p.Ala1336Val) c.3215C>T (p.Ala1072Val) | |
| 8 | g.60853106A= | CA1788103688 | CHD7 | c.6381A= (p.Ala2127=) c.1717-9123A= (n.1717-9123A=) c.6471A= (p.Ala2157=) c.4458A= (p.Ala1486=) c.4008A= (p.Ala1336=) c.3216A= (p.Ala1072=) | |
| 8 | g.60853106A>C | CA461105327 | CHD7 | c.6381A>C (p.Ala2127=) c.1717-9123A>C (n.1717-9123A>C) c.6471A>C (p.Ala2157=) c.4458A>C (p.Ala1486=) c.4008A>C (p.Ala1336=) c.3216A>C (p.Ala1072=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853106A>G | CA461105328 | CHD7 | c.6381A>G (p.Ala2127=) c.1717-9123A>G (n.1717-9123A>G) c.6471A>G (p.Ala2157=) c.4458A>G (p.Ala1486=) c.4008A>G (p.Ala1336=) c.3216A>G (p.Ala1072=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60853106A>T | CA461105326 | CHD7 | c.6381A>T (p.Ala2127=) c.1717-9123A>T (n.1717-9123A>T) c.6471A>T (p.Ala2157=) c.4458A>T (p.Ala1486=) c.4008A>T (p.Ala1336=) c.3216A>T (p.Ala1072=) | |
| 8 | g.60853107C>A | CA371324978 | CHD7 | c.6382C>A (p.His2128Asn) c.1717-9122C>A (n.1717-9122C>A) c.6472C>A (p.His2158Asn) c.4459C>A (p.His1487Asn) c.4009C>A (p.His1337Asn) c.3217C>A (p.His1073Asn) | |
| 8 | g.60853107C>G | CA371324980 | CHD7 | c.6382C>G (p.His2128Asp) c.1717-9122C>G (n.1717-9122C>G) c.6472C>G (p.His2158Asp) c.4459C>G (p.His1487Asp) c.4009C>G (p.His1337Asp) c.3217C>G (p.His1073Asp) | |
| 8 | g.60853107C>T | CA371324981 | CHD7 | c.6382C>T (p.His2128Tyr) c.1717-9122C>T (n.1717-9122C>T) c.6472C>T (p.His2158Tyr) c.4459C>T (p.His1487Tyr) c.4009C>T (p.His1337Tyr) c.3217C>T (p.His1073Tyr) | gnomAD v4 |
| 8 | g.60853108A= | CA1788103694 | CHD7 | c.6383A= (p.His2128=) c.1717-9121A= (n.1717-9121A=) c.6473A= (p.His2158=) c.4460A= (p.His1487=) c.4010A= (p.His1337=) c.3218A= (p.His1073=) | |
| 8 | g.60853108A>C | CA371324985 | CHD7 | c.6383A>C (p.His2128Pro) c.1717-9121A>C (n.1717-9121A>C) c.6473A>C (p.His2158Pro) c.4460A>C (p.His1487Pro) c.4010A>C (p.His1337Pro) c.3218A>C (p.His1073Pro) | |
| 8 | g.60853108A>G | CA4760581 | CHD7 | c.6383A>G (p.His2128Arg) c.1717-9121A>G (n.1717-9121A>G) c.6473A>G (p.His2158Arg) c.4460A>G (p.His1487Arg) c.4010A>G (p.His1337Arg) c.3218A>G (p.His1073Arg) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.60853108A>T | CA371324984 | CHD7 | c.6383A>T (p.His2128Leu) c.1717-9121A>T (n.1717-9121A>T) c.6473A>T (p.His2158Leu) c.4460A>T (p.His1487Leu) c.4010A>T (p.His1337Leu) c.3218A>T (p.His1073Leu) | |
| 8 | g.60853109T>A | CA371324986 | CHD7 | c.6384T>A (p.His2128Gln) c.1717-9120T>A (n.1717-9120T>A) c.6474T>A (p.His2158Gln) c.4461T>A (p.His1487Gln) c.4011T>A (p.His1337Gln) c.3219T>A (p.His1073Gln) | |
| 8 | g.60853109T>C | CA461105332 | CHD7 | c.6384T>C (p.His2128=) c.1717-9120T>C (n.1717-9120T>C) c.6474T>C (p.His2158=) c.4461T>C (p.His1487=) c.4011T>C (p.His1337=) c.3219T>C (p.His1073=) | |
| 8 | g.60853109T>G | CA371324987 | CHD7 | c.6384T>G (p.His2128Gln) c.1717-9120T>G (n.1717-9120T>G) c.6474T>G (p.His2158Gln) c.4461T>G (p.His1487Gln) c.4011T>G (p.His1337Gln) c.3219T>G (p.His1073Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853109T= | CA1788103701 | CHD7 | c.6384T= (p.His2128=) c.1717-9120T= (n.1717-9120T=) c.6474T= (p.His2158=) c.4461T= (p.His1487=) c.4011T= (p.His1337=) c.3219T= (p.His1073=) | |
| 8 | g.60853110A>C | CA371324988 | CHD7 | c.6385A>C (p.Lys2129Gln) c.1717-9119A>C (n.1717-9119A>C) c.6475A>C (p.Lys2159Gln) c.4462A>C (p.Lys1488Gln) c.4012A>C (p.Lys1338Gln) c.3220A>C (p.Lys1074Gln) | |
| 8 | g.60853110A>G | CA371324989 | CHD7 | c.6385A>G (p.Lys2129Glu) c.1717-9119A>G (n.1717-9119A>G) c.6475A>G (p.Lys2159Glu) c.4462A>G (p.Lys1488Glu) c.4012A>G (p.Lys1338Glu) c.3220A>G (p.Lys1074Glu) | |
| 8 | g.60853110A>T | CA371324990 | CHD7 | c.6385A>T (p.Lys2129Ter) c.1717-9119A>T (n.1717-9119A>T) c.6475A>T (p.Lys2159Ter) c.4462A>T (p.Lys1488Ter) c.4012A>T (p.Lys1338Ter) c.3220A>T (p.Lys1074Ter) | |
| 8 | g.60853111A>C | CA371324992 | CHD7 | c.6386A>C (p.Lys2129Thr) c.1717-9118A>C (n.1717-9118A>C) c.6476A>C (p.Lys2159Thr) c.4463A>C (p.Lys1488Thr) c.4013A>C (p.Lys1338Thr) c.3221A>C (p.Lys1074Thr) | |
| 8 | g.60853111A>G | CA371324994 | CHD7 | c.6386A>G (p.Lys2129Arg) c.1717-9118A>G (n.1717-9118A>G) c.6476A>G (p.Lys2159Arg) c.4463A>G (p.Lys1488Arg) c.4013A>G (p.Lys1338Arg) c.3221A>G (p.Lys1074Arg) | |
| 8 | g.60853111A>T | CA371324995 | CHD7 | c.6386A>T (p.Lys2129Ile) c.1717-9118A>T (n.1717-9118A>T) c.6476A>T (p.Lys2159Ile) c.4463A>T (p.Lys1488Ile) c.4013A>T (p.Lys1338Ile) c.3221A>T (p.Lys1074Ile) | |
| 8 | g.60853112A>C | CA371325000 | CHD7 | c.6387A>C (p.Lys2129Asn) c.1717-9117A>C (n.1717-9117A>C) c.6477A>C (p.Lys2159Asn) c.4464A>C (p.Lys1488Asn) c.4014A>C (p.Lys1338Asn) c.3222A>C (p.Lys1074Asn) | |
| 8 | g.60853112A>G | CA461105336 | CHD7 | c.6387A>G (p.Lys2129=) c.1717-9117A>G (n.1717-9117A>G) c.6477A>G (p.Lys2159=) c.4464A>G (p.Lys1488=) c.4014A>G (p.Lys1338=) c.3222A>G (p.Lys1074=) | gnomAD v4 |
| 8 | g.60853112A>T | CA371325001 | CHD7 | c.6387A>T (p.Lys2129Asn) c.1717-9117A>T (n.1717-9117A>T) c.6477A>T (p.Lys2159Asn) c.4464A>T (p.Lys1488Asn) c.4014A>T (p.Lys1338Asn) c.3222A>T (p.Lys1074Asn) | |
| 8 | g.60853112_60853113insCCAAACACACCCAACAC | CA2780535063 | CHD7 | c.6387_6388insCCAAACACACCCAACAC (p.Asn2130ProfsTer20) c.1717-9117_1717-9116insCCAAACACACCCAACAC (n.1717-9117_1717-9116insCCAAACACACCCAACAC) c.6477_6478insCCAAACACACCCAACAC (p.Asn2160ProfsTer20) c.4464_4465insCCAAACACACCCAACAC (p.Asn1489ProfsTer20) c.4014_4015insCCAAACACACCCAACAC (p.Asn1339ProfsTer20) c.3222_3223insCCAAACACACCCAACAC (p.Asn1075ProfsTer20) | |
| 8 | g.60853113A>C | CA371325003 | CHD7 | c.6388A>C (p.Asn2130His) c.1717-9116A>C (n.1717-9116A>C) c.6478A>C (p.Asn2160His) c.4465A>C (p.Asn1489His) c.4015A>C (p.Asn1339His) c.3223A>C (p.Asn1075His) | |
| 8 | g.60853113A>G | CA371325004 | CHD7 | c.6388A>G (p.Asn2130Asp) c.1717-9116A>G (n.1717-9116A>G) c.6478A>G (p.Asn2160Asp) c.4465A>G (p.Asn1489Asp) c.4015A>G (p.Asn1339Asp) c.3223A>G (p.Asn1075Asp) | |
| 8 | g.60853113A>T | CA371325006 | CHD7 | c.6388A>T (p.Asn2130Tyr) c.1717-9116A>T (n.1717-9116A>T) c.6478A>T (p.Asn2160Tyr) c.4465A>T (p.Asn1489Tyr) c.4015A>T (p.Asn1339Tyr) c.3223A>T (p.Asn1075Tyr) | |
| 8 | g.60853114A= | CA1788103705 | CHD7 | c.6389A= (p.Asn2130=) c.1717-9115A= (n.1717-9115A=) c.6479A= (p.Asn2160=) c.4466A= (p.Asn1489=) c.4016A= (p.Asn1339=) c.3224A= (p.Asn1075=) | |
| 8 | g.60853114A>C | CA371325010 | CHD7 | c.6389A>C (p.Asn2130Thr) c.1717-9115A>C (n.1717-9115A>C) c.6479A>C (p.Asn2160Thr) c.4466A>C (p.Asn1489Thr) c.4016A>C (p.Asn1339Thr) c.3224A>C (p.Asn1075Thr) | |
| 8 | g.60853114A>G | CA371325008 | CHD7 | c.6389A>G (p.Asn2130Ser) c.1717-9115A>G (n.1717-9115A>G) c.6479A>G (p.Asn2160Ser) c.4466A>G (p.Asn1489Ser) c.4016A>G (p.Asn1339Ser) c.3224A>G (p.Asn1075Ser) | |
| 8 | g.60853114A>T | CA4760582 | CHD7 | c.6389A>T (p.Asn2130Ile) c.1717-9115A>T (n.1717-9115A>T) c.6479A>T (p.Asn2160Ile) c.4466A>T (p.Asn1489Ile) c.4016A>T (p.Asn1339Ile) c.3224A>T (p.Asn1075Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853115C>A | CA371325011 | CHD7 | c.6390C>A (p.Asn2130Lys) c.1717-9114C>A (n.1717-9114C>A) c.6480C>A (p.Asn2160Lys) c.4467C>A (p.Asn1489Lys) c.4017C>A (p.Asn1339Lys) c.3225C>A (p.Asn1075Lys) | |
| 8 | g.60853115C>G | CA371325013 | CHD7 | c.6390C>G (p.Asn2130Lys) c.1717-9114C>G (n.1717-9114C>G) c.6480C>G (p.Asn2160Lys) c.4467C>G (p.Asn1489Lys) c.4017C>G (p.Asn1339Lys) c.3225C>G (p.Asn1075Lys) | |
| 8 | g.60853115C>T | CA461105340 | CHD7 | c.6390C>T (p.Asn2130=) c.1717-9114C>T (n.1717-9114C>T) c.6480C>T (p.Asn2160=) c.4467C>T (p.Asn1489=) c.4017C>T (p.Asn1339=) c.3225C>T (p.Asn1075=) | |
| 8 | g.60853116T>A | CA371325015 | CHD7 | c.6391T>A (p.Phe2131Ile) c.1717-9113T>A (n.1717-9113T>A) c.6481T>A (p.Phe2161Ile) c.4468T>A (p.Phe1490Ile) c.4018T>A (p.Phe1340Ile) c.3226T>A (p.Phe1076Ile) | |
| 8 | g.60853116T>C | CA371325017 | CHD7 | c.6391T>C (p.Phe2131Leu) c.1717-9113T>C (n.1717-9113T>C) c.6481T>C (p.Phe2161Leu) c.4468T>C (p.Phe1490Leu) c.4018T>C (p.Phe1340Leu) c.3226T>C (p.Phe1076Leu) | |
| 8 | g.60853116T>G | CA371325019 | CHD7 | c.6391T>G (p.Phe2131Val) c.1717-9113T>G (n.1717-9113T>G) c.6481T>G (p.Phe2161Val) c.4468T>G (p.Phe1490Val) c.4018T>G (p.Phe1340Val) c.3226T>G (p.Phe1076Val) | |
| 8 | g.60853118del | CA2695209419 | CHD7 | c.6393del (p.Phe2131LeufsTer13) c.1717-9111del (n.1717-9111del) c.6483del (p.Phe2161LeufsTer13) c.4470del (p.Phe1490LeufsTer13) c.4020del (p.Phe1340LeufsTer13) c.3228del (p.Phe1076LeufsTer13) | |
| 8 | g.60853117T>A | CA371325020 | CHD7 | c.6392T>A (p.Phe2131Tyr) c.1717-9112T>A (n.1717-9112T>A) c.6482T>A (p.Phe2161Tyr) c.4469T>A (p.Phe1490Tyr) c.4019T>A (p.Phe1340Tyr) c.3227T>A (p.Phe1076Tyr) | |
| 8 | g.60853117T>C | CA371325021 | CHD7 | c.6392T>C (p.Phe2131Ser) c.1717-9112T>C (n.1717-9112T>C) c.6482T>C (p.Phe2161Ser) c.4469T>C (p.Phe1490Ser) c.4019T>C (p.Phe1340Ser) c.3227T>C (p.Phe1076Ser) | |
| 8 | g.60853117T>G | CA4760583 | CHD7 | c.6392T>G (p.Phe2131Cys) c.1717-9112T>G (n.1717-9112T>G) c.6482T>G (p.Phe2161Cys) c.4469T>G (p.Phe1490Cys) c.4019T>G (p.Phe1340Cys) c.3227T>G (p.Phe1076Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853117T= | CA1788103722 | CHD7 | c.6392T= (p.Phe2131=) c.1717-9112T= (n.1717-9112T=) c.6482T= (p.Phe2161=) c.4469T= (p.Phe1490=) c.4019T= (p.Phe1340=) c.3227T= (p.Phe1076=) |