| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60848509_60848528delinsCTCCAGGGTCCTGCTGCGTG | CA1788133542 | CHD7 | c.5211-6_5224delinsCTCCAGGGTCCTGCTGCGTG c.1717-13720_1717-13701delinsCTCCAGGGTCCTGCTGCGTG (n.1717-13720_1717-13701delinsCTCCAGGGTCCTGCTGCGTG) c.5301-6_5314delinsCTCCAGGGTCCTGCTGCGTG c.3288-6_3301delinsCTCCAGGGTCCTGCTGCGTG c.2838-6_2851delinsCTCCAGGGTCCTGCTGCGTG c.2046-6_2059delinsCTCCAGGGTCCTGCTGCGTG | |
| 8 | g.60848513_60848531del | CA1139660563 | CHD7 | c.5211-2_5227del c.1717-13716_1717-13698del (n.1717-13716_1717-13698del) c.5301-2_5317del c.3288-2_3304del c.2838-2_2854del c.2046-2_2062del | ClinVar dbSNP |
| 8 | g.60848514G>A | CA371320757 | CHD7 | c.5211-1G>A (n.5211-1G>A) c.1717-13715G>A (n.1717-13715G>A) c.5301-1G>A (n.5301-1G>A) c.3288-1G>A (n.3288-1G>A) c.2838-1G>A (n.2838-1G>A) c.2046-1G>A (n.2046-1G>A) | |
| 8 | g.60848514G>C | CA16612520 | CHD7 | c.5211-1G>C (n.5211-1G>C) c.1717-13715G>C (n.1717-13715G>C) c.5301-1G>C (n.5301-1G>C) c.3288-1G>C (n.3288-1G>C) c.2838-1G>C (n.2838-1G>C) c.2046-1G>C (n.2046-1G>C) | ClinVar dbSNP |
| 8 | g.60848514G= | CA1788133579 | CHD7 | c.5211-1G= (n.5211-1G=) c.1717-13715G= (n.1717-13715G=) c.5301-1G= (n.5301-1G=) c.3288-1G= (n.3288-1G=) c.2838-1G= (n.2838-1G=) c.2046-1G= (n.2046-1G=) | |
| 8 | g.60848514G>T | CA371320758 | CHD7 | c.5211-1G>T (n.5211-1G>T) c.1717-13715G>T (n.1717-13715G>T) c.5301-1G>T (n.5301-1G>T) c.3288-1G>T (n.3288-1G>T) c.2838-1G>T (n.2838-1G>T) c.2046-1G>T (n.2046-1G>T) | COSMIC |
| 8 | g.60848515G>A | CA460848364 | CHD7 | c.5211G>A (p.Lys1737=) c.1717-13714G>A (n.1717-13714G>A) c.5301G>A (p.Trp1767Ter) c.3288G>A (p.Trp1096Ter) c.2838G>A (p.Trp946Ter) c.2046G>A (p.Trp682Ter) | gnomAD v4 |
| 8 | g.60848515G>C | CA371320759 | CHD7 | c.5211G>C (p.Lys1737Asn) c.1717-13714G>C (n.1717-13714G>C) c.5301G>C (p.Trp1767Cys) c.3288G>C (p.Trp1096Cys) c.2838G>C (p.Trp946Cys) c.2046G>C (p.Trp682Cys) | |
| 8 | g.60848515G>T | CA371320760 | CHD7 | c.5211G>T (p.Lys1737Asn) c.1717-13714G>T (n.1717-13714G>T) c.5301G>T (p.Trp1767Cys) c.3288G>T (p.Trp1096Cys) c.2838G>T (p.Trp946Cys) c.2046G>T (p.Trp682Cys) | |
| 8 | g.60848516G>A | CA371320763 | CHD7 | c.5212G>A (p.Val1738Ile) c.1717-13713G>A (n.1717-13713G>A) c.5302G>A (p.Val1768Ile) c.3289G>A (p.Val1097Ile) c.2839G>A (p.Val947Ile) c.2047G>A (p.Val683Ile) | |
| 8 | g.60848516G>C | CA371320762 | CHD7 | c.5212G>C (p.Val1738Leu) c.1717-13713G>C (n.1717-13713G>C) c.5302G>C (p.Val1768Leu) c.3289G>C (p.Val1097Leu) c.2839G>C (p.Val947Leu) c.2047G>C (p.Val683Leu) | |
| 8 | g.60848516G>T | CA371320761 | CHD7 | c.5212G>T (p.Val1738Phe) c.1717-13713G>T (n.1717-13713G>T) c.5302G>T (p.Val1768Phe) c.3289G>T (p.Val1097Phe) c.2839G>T (p.Val947Phe) c.2047G>T (p.Val683Phe) | |
| 8 | g.60848517T>A | CA371320764 | CHD7 | c.5213T>A (p.Val1738Asp) c.1717-13712T>A (n.1717-13712T>A) c.5303T>A (p.Val1768Asp) c.3290T>A (p.Val1097Asp) c.2840T>A (p.Val947Asp) c.2048T>A (p.Val683Asp) | |
| 8 | g.60848517T>C | CA371320765 | CHD7 | c.5213T>C (p.Val1738Ala) c.1717-13712T>C (n.1717-13712T>C) c.5303T>C (p.Val1768Ala) c.3290T>C (p.Val1097Ala) c.2840T>C (p.Val947Ala) c.2048T>C (p.Val683Ala) | |
| 8 | g.60848517T>G | CA371320766 | CHD7 | c.5213T>G (p.Val1738Gly) c.1717-13712T>G (n.1717-13712T>G) c.5303T>G (p.Val1768Gly) c.3290T>G (p.Val1097Gly) c.2840T>G (p.Val947Gly) c.2048T>G (p.Val683Gly) | |
| 8 | g.60848518C>A | CA460848366 | CHD7 | c.5214C>A (p.Val1738=) c.1717-13711C>A (n.1717-13711C>A) c.5304C>A (p.Val1768=) c.3291C>A (p.Val1097=) c.2841C>A (p.Val947=) c.2049C>A (p.Val683=) | |
| 8 | g.60848518C= | CA1788133590 | CHD7 | c.5214C= (p.Val1738=) c.1717-13711C= (n.1717-13711C=) c.5304C= (p.Val1768=) c.3291C= (p.Val1097=) c.2841C= (p.Val947=) c.2049C= (p.Val683=) | |
| 8 | g.60848518C>G | CA460848365 | CHD7 | c.5214C>G (p.Val1738=) c.1717-13711C>G (n.1717-13711C>G) c.5304C>G (p.Val1768=) c.3291C>G (p.Val1097=) c.2841C>G (p.Val947=) c.2049C>G (p.Val683=) | |
| 8 | g.60848518C>T | CA4760307 | CHD7 | c.5214C>T (p.Val1738=) c.1717-13711C>T (n.1717-13711C>T) c.5304C>T (p.Val1768=) c.3291C>T (p.Val1097=) c.2841C>T (p.Val947=) c.2049C>T (p.Val683=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60848519C>A | CA371320767 | CHD7 | c.5215C>A (p.Leu1739Met) c.1717-13710C>A (n.1717-13710C>A) c.5305C>A (p.Leu1769Met) c.3292C>A (p.Leu1098Met) c.2842C>A (p.Leu948Met) c.2050C>A (p.Leu684Met) | |
| 8 | g.60848519C= | CA1788133594 | CHD7 | c.5215C= (p.Leu1739=) c.1717-13710C= (n.1717-13710C=) c.5305C= (p.Leu1769=) c.3292C= (p.Leu1098=) c.2842C= (p.Leu948=) c.2050C= (p.Leu684=) | |
| 8 | g.60848519C>G | CA371320768 | CHD7 | c.5215C>G (p.Leu1739Val) c.1717-13710C>G (n.1717-13710C>G) c.5305C>G (p.Leu1769Val) c.3292C>G (p.Leu1098Val) c.2842C>G (p.Leu948Val) c.2050C>G (p.Leu684Val) | |
| 8 | g.60848519C>T | CA4760308 | CHD7 | c.5215C>T (p.Leu1739=) c.1717-13710C>T (n.1717-13710C>T) c.5305C>T (p.Leu1769=) c.3292C>T (p.Leu1098=) c.2842C>T (p.Leu948=) c.2050C>T (p.Leu684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60848520T>A | CA371320769 | CHD7 | c.5216T>A (p.Leu1739Gln) c.1717-13709T>A (n.1717-13709T>A) c.5306T>A (p.Leu1769Gln) c.3293T>A (p.Leu1098Gln) c.2843T>A (p.Leu948Gln) c.2051T>A (p.Leu684Gln) | |
| 8 | g.60848520T>C | CA371320770 | CHD7 | c.5216T>C (p.Leu1739Pro) c.1717-13709T>C (n.1717-13709T>C) c.5306T>C (p.Leu1769Pro) c.3293T>C (p.Leu1098Pro) c.2843T>C (p.Leu948Pro) c.2051T>C (p.Leu684Pro) | |
| 8 | g.60848520T>G | CA371320771 | CHD7 | c.5216T>G (p.Leu1739Arg) c.1717-13709T>G (n.1717-13709T>G) c.5306T>G (p.Leu1769Arg) c.3293T>G (p.Leu1098Arg) c.2843T>G (p.Leu948Arg) c.2051T>G (p.Leu684Arg) | |
| 8 | g.60848521G>A | CA460848367 | CHD7 | c.5217G>A (p.Leu1739=) c.1717-13708G>A (n.1717-13708G>A) c.5307G>A (p.Leu1769=) c.3294G>A (p.Leu1098=) c.2844G>A (p.Leu948=) c.2052G>A (p.Leu684=) | |
| 8 | g.60848521G>C | CA460848368 | CHD7 | c.5217G>C (p.Leu1739=) c.1717-13708G>C (n.1717-13708G>C) c.5307G>C (p.Leu1769=) c.3294G>C (p.Leu1098=) c.2844G>C (p.Leu948=) c.2052G>C (p.Leu684=) | |
| 8 | g.60848521G>T | CA460848369 | CHD7 | c.5217G>T (p.Leu1739=) c.1717-13708G>T (n.1717-13708G>T) c.5307G>T (p.Leu1769=) c.3294G>T (p.Leu1098=) c.2844G>T (p.Leu948=) c.2052G>T (p.Leu684=) | |
| 8 | g.60848522C>A | CA371320772 | CHD7 | c.5218C>A (p.Leu1740Met) c.1717-13707C>A (n.1717-13707C>A) c.5308C>A (p.Leu1770Met) c.3295C>A (p.Leu1099Met) c.2845C>A (p.Leu949Met) c.2053C>A (p.Leu685Met) | |
| 8 | g.60848522C= | CA1788133599 | CHD7 | c.5218C= (p.Leu1740=) c.1717-13707C= (n.1717-13707C=) c.5308C= (p.Leu1770=) c.3295C= (p.Leu1099=) c.2845C= (p.Leu949=) c.2053C= (p.Leu685=) | |
| 8 | g.60848522C>G | CA371320773 | CHD7 | c.5218C>G (p.Leu1740Val) c.1717-13707C>G (n.1717-13707C>G) c.5308C>G (p.Leu1770Val) c.3295C>G (p.Leu1099Val) c.2845C>G (p.Leu949Val) c.2053C>G (p.Leu685Val) | |
| 8 | g.60848522C>T | CA460848370 | CHD7 | c.5218C>T (p.Leu1740=) c.1717-13707C>T (n.1717-13707C>T) c.5308C>T (p.Leu1770=) c.3295C>T (p.Leu1099=) c.2845C>T (p.Leu949=) c.2053C>T (p.Leu685=) | ClinVar dbSNP |
| 8 | g.60848523T>A | CA371320776 | CHD7 | c.5219T>A (p.Leu1740Gln) c.1717-13706T>A (n.1717-13706T>A) c.5309T>A (p.Leu1770Gln) c.3296T>A (p.Leu1099Gln) c.2846T>A (p.Leu949Gln) c.2054T>A (p.Leu685Gln) | |
| 8 | g.60848523T>C | CA371320774 | CHD7 | c.5219T>C (p.Leu1740Pro) c.1717-13706T>C (n.1717-13706T>C) c.5309T>C (p.Leu1770Pro) c.3296T>C (p.Leu1099Pro) c.2846T>C (p.Leu949Pro) c.2054T>C (p.Leu685Pro) | |
| 8 | g.60848523T>G | CA371320775 | CHD7 | c.5219T>G (p.Leu1740Arg) c.1717-13706T>G (n.1717-13706T>G) c.5309T>G (p.Leu1770Arg) c.3296T>G (p.Leu1099Arg) c.2846T>G (p.Leu949Arg) c.2054T>G (p.Leu685Arg) | |
| 8 | g.60848524G>A | CA460848371 | CHD7 | c.5220G>A (p.Leu1740=) c.1717-13705G>A (n.1717-13705G>A) c.5310G>A (p.Leu1770=) c.3297G>A (p.Leu1099=) c.2847G>A (p.Leu949=) c.2055G>A (p.Leu685=) | |
| 8 | g.60848524G>C | CA460848372 | CHD7 | c.5220G>C (p.Leu1740=) c.1717-13705G>C (n.1717-13705G>C) c.5310G>C (p.Leu1770=) c.3297G>C (p.Leu1099=) c.2847G>C (p.Leu949=) c.2055G>C (p.Leu685=) | |
| 8 | g.60848524G>T | CA460848373 | CHD7 | c.5220G>T (p.Leu1740=) c.1717-13705G>T (n.1717-13705G>T) c.5310G>T (p.Leu1770=) c.3297G>T (p.Leu1099=) c.2847G>T (p.Leu949=) c.2055G>T (p.Leu685=) | |
| 8 | g.60848525C>A | CA371320777 | CHD7 | c.5221C>A (p.Arg1741Ser) c.1717-13704C>A (n.1717-13704C>A) c.5311C>A (p.Arg1771Ser) c.3298C>A (p.Arg1100Ser) c.2848C>A (p.Arg950Ser) c.2056C>A (p.Arg686Ser) | |
| 8 | g.60848525C>G | CA371320778 | CHD7 | c.5221C>G (p.Arg1741Gly) c.1717-13704C>G (n.1717-13704C>G) c.5311C>G (p.Arg1771Gly) c.3298C>G (p.Arg1100Gly) c.2848C>G (p.Arg950Gly) c.2056C>G (p.Arg686Gly) | COSMIC |
| 8 | g.60848525C>T | CA371320779 | CHD7 | c.5221C>T (p.Arg1741Cys) c.1717-13704C>T (n.1717-13704C>T) c.5311C>T (p.Arg1771Cys) c.3298C>T (p.Arg1100Cys) c.2848C>T (p.Arg950Cys) c.2056C>T (p.Arg686Cys) | ClinVar gnomAD v4 |
| 8 | g.60848526G>A | CA371320780 | CHD7 | c.5222G>A (p.Arg1741His) c.1717-13703G>A (n.1717-13703G>A) c.5312G>A (p.Arg1771His) c.3299G>A (p.Arg1100His) c.2849G>A (p.Arg950His) c.2057G>A (p.Arg686His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60848526G>C | CA371320781 | CHD7 | c.5222G>C (p.Arg1741Pro) c.1717-13703G>C (n.1717-13703G>C) c.5312G>C (p.Arg1771Pro) c.3299G>C (p.Arg1100Pro) c.2849G>C (p.Arg950Pro) c.2057G>C (p.Arg686Pro) | |
| 8 | g.60848526G= | CA1788133603 | CHD7 | c.5222G= (p.Arg1741=) c.1717-13703G= (n.1717-13703G=) c.5312G= (p.Arg1771=) c.3299G= (p.Arg1100=) c.2849G= (p.Arg950=) c.2057G= (p.Arg686=) | |
| 8 | g.60848526G>T | CA371320782 | CHD7 | c.5222G>T (p.Arg1741Leu) c.1717-13703G>T (n.1717-13703G>T) c.5312G>T (p.Arg1771Leu) c.3299G>T (p.Arg1100Leu) c.2849G>T (p.Arg950Leu) c.2057G>T (p.Arg686Leu) | |
| 8 | g.60848527T>A | CA460848374 | CHD7 | c.5223T>A (p.Arg1741=) c.1717-13702T>A (n.1717-13702T>A) c.5313T>A (p.Arg1771=) c.3300T>A (p.Arg1100=) c.2850T>A (p.Arg950=) c.2058T>A (p.Arg686=) | dbSNP gnomAD v4 |
| 8 | g.60848527T>C | CA460848375 | CHD7 | c.5223T>C (p.Arg1741=) c.1717-13702T>C (n.1717-13702T>C) c.5313T>C (p.Arg1771=) c.3300T>C (p.Arg1100=) c.2850T>C (p.Arg950=) c.2058T>C (p.Arg686=) | |
| 8 | g.60848527T>G | CA460848376 | CHD7 | c.5223T>G (p.Arg1741=) c.1717-13702T>G (n.1717-13702T>G) c.5313T>G (p.Arg1771=) c.3300T>G (p.Arg1100=) c.2850T>G (p.Arg950=) c.2058T>G (p.Arg686=) | |
| 8 | g.60848527T= | CA1788133609 | CHD7 | c.5223T= (p.Arg1741=) c.1717-13702T= (n.1717-13702T=) c.5313T= (p.Arg1771=) c.3300T= (p.Arg1100=) c.2850T= (p.Arg950=) c.2058T= (p.Arg686=) |