| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60836100_60836105delinsA | CA2695209681 | CHD7 | c.3806_3811delinsA (p.Phe1269Ter) c.1717-26129_1717-26124delinsA (n.1717-26129_1717-26124delinsA) c.1793_1798delinsA (p.Phe598Ter) c.1343_1348delinsA (p.Phe448Ter) c.551_556delinsA (p.Phe184Ter) | |
| 8 | g.60836101_60836105delinsTAAAG | CA1788112331 | CHD7 | c.3807_3811delinsTAAAG (p.Phe1269=) c.1717-26128_1717-26124delinsTAAAG (n.1717-26128_1717-26124delinsTAAAG) c.1794_1798delinsTAAAG (p.Phe598=) c.1344_1348delinsTAAAG (p.Phe448=) c.552_556delinsTAAAG (p.Phe184=) | |
| 8 | g.60836105_60836108del | CA10602496 | CHD7 | c.3811_3814del (p.Glu1271HisfsTer14) c.1717-26124_1717-26121del (n.1717-26124_1717-26121del) c.1798_1801del (p.Glu600HisfsTer14) c.1348_1351del (p.Glu450HisfsTer14) c.556_559del (p.Glu186HisfsTer14) | ClinVar dbSNP |
| 8 | g.60836105G>A | CA371316159 | CHD7 | c.3811G>A (p.Glu1271Lys) c.1717-26124G>A (n.1717-26124G>A) c.1798G>A (p.Glu600Lys) c.1348G>A (p.Glu450Lys) c.556G>A (p.Glu186Lys) | gnomAD v4 |
| 8 | g.60836105G>C | CA371316158 | CHD7 | c.3811G>C (p.Glu1271Gln) c.1717-26124G>C (n.1717-26124G>C) c.1798G>C (p.Glu600Gln) c.1348G>C (p.Glu450Gln) c.556G>C (p.Glu186Gln) | |
| 8 | g.60836105G= | CA1788112347 | CHD7 | c.3811G= (p.Glu1271=) c.1717-26124G= (n.1717-26124G=) c.1798G= (p.Glu600=) c.1348G= (p.Glu450=) c.556G= (p.Glu186=) | |
| 8 | g.60836105G>T | CA252058 | CHD7 | c.3811G>T (p.Glu1271Ter) c.1717-26124G>T (n.1717-26124G>T) c.1798G>T (p.Glu600Ter) c.1348G>T (p.Glu450Ter) c.556G>T (p.Glu186Ter) | ClinVar dbSNP |
| 8 | g.60836106A>C | CA371316160 | CHD7 | c.3812A>C (p.Glu1271Ala) c.1717-26123A>C (n.1717-26123A>C) c.1799A>C (p.Glu600Ala) c.1349A>C (p.Glu450Ala) c.557A>C (p.Glu186Ala) | |
| 8 | g.60836106A>G | CA371316162 | CHD7 | c.3812A>G (p.Glu1271Gly) c.1717-26123A>G (n.1717-26123A>G) c.1799A>G (p.Glu600Gly) c.1349A>G (p.Glu450Gly) c.557A>G (p.Glu186Gly) | |
| 8 | g.60836106A>T | CA371316161 | CHD7 | c.3812A>T (p.Glu1271Val) c.1717-26123A>T (n.1717-26123A>T) c.1799A>T (p.Glu600Val) c.1349A>T (p.Glu450Val) c.557A>T (p.Glu186Val) | |
| 8 | g.60836107A>C | CA371316163 | CHD7 | c.3813A>C (p.Glu1271Asp) c.1717-26122A>C (n.1717-26122A>C) c.1800A>C (p.Glu600Asp) c.1350A>C (p.Glu450Asp) c.558A>C (p.Glu186Asp) | |
| 8 | g.60836107A>G | CA460846680 | CHD7 | c.3813A>G (p.Glu1271=) c.1717-26122A>G (n.1717-26122A>G) c.1800A>G (p.Glu600=) c.1350A>G (p.Glu450=) c.558A>G (p.Glu186=) | |
| 8 | g.60836107A>T | CA371316164 | CHD7 | c.3813A>T (p.Glu1271Asp) c.1717-26122A>T (n.1717-26122A>T) c.1800A>T (p.Glu600Asp) c.1350A>T (p.Glu450Asp) c.558A>T (p.Glu186Asp) | |
| 8 | g.60836108A= | CA1788112354 | CHD7 | c.3814A= (p.Thr1272=) c.1717-26121A= (n.1717-26121A=) c.1801A= (p.Thr601=) c.1351A= (p.Thr451=) c.559A= (p.Thr187=) | |
| 8 | g.60836108A>C | CA371316165 | CHD7 | c.3814A>C (p.Thr1272Pro) c.1717-26121A>C (n.1717-26121A>C) c.1801A>C (p.Thr601Pro) c.1351A>C (p.Thr451Pro) c.559A>C (p.Thr187Pro) | |
| 8 | g.60836108A>G | CA371316167 | CHD7 | c.3814A>G (p.Thr1272Ala) c.1717-26121A>G (n.1717-26121A>G) c.1801A>G (p.Thr601Ala) c.1351A>G (p.Thr451Ala) c.559A>G (p.Thr187Ala) | dbSNP |
| 8 | g.60836108A>T | CA371316166 | CHD7 | c.3814A>T (p.Thr1272Ser) c.1717-26121A>T (n.1717-26121A>T) c.1801A>T (p.Thr601Ser) c.1351A>T (p.Thr451Ser) c.559A>T (p.Thr187Ser) | |
| 8 | g.60836113_60836114del | CA2695201477 | CHD7 | c.3819_3820del (p.His1273GlnfsTer23) c.1717-26116_1717-26115del (n.1717-26116_1717-26115del) c.1806_1807del (p.His602GlnfsTer23) c.1356_1357del (p.His452GlnfsTer23) c.564_565del (p.His188GlnfsTer23) | ClinVar |
| 8 | g.60836109C>A | CA371316168 | CHD7 | c.3815C>A (p.Thr1272Lys) c.1717-26120C>A (n.1717-26120C>A) c.1802C>A (p.Thr601Lys) c.1352C>A (p.Thr451Lys) c.560C>A (p.Thr187Lys) | |
| 8 | g.60836109C>G | CA371316169 | CHD7 | c.3815C>G (p.Thr1272Arg) c.1717-26120C>G (n.1717-26120C>G) c.1802C>G (p.Thr601Arg) c.1352C>G (p.Thr451Arg) c.560C>G (p.Thr187Arg) | |
| 8 | g.60836109C>T | CA371316170 | CHD7 | c.3815C>T (p.Thr1272Ile) c.1717-26120C>T (n.1717-26120C>T) c.1802C>T (p.Thr601Ile) c.1352C>T (p.Thr451Ile) c.560C>T (p.Thr187Ile) | |
| 8 | g.60836110A>C | CA460846683 | CHD7 | c.3816A>C (p.Thr1272=) c.1717-26119A>C (n.1717-26119A>C) c.1803A>C (p.Thr601=) c.1353A>C (p.Thr451=) c.561A>C (p.Thr187=) | |
| 8 | g.60836110A>G | CA460846684 | CHD7 | c.3816A>G (p.Thr1272=) c.1717-26119A>G (n.1717-26119A>G) c.1803A>G (p.Thr601=) c.1353A>G (p.Thr451=) c.561A>G (p.Thr187=) | gnomAD v4 |
| 8 | g.60836110A>T | CA460846685 | CHD7 | c.3816A>T (p.Thr1272=) c.1717-26119A>T (n.1717-26119A>T) c.1803A>T (p.Thr601=) c.1353A>T (p.Thr451=) c.561A>T (p.Thr187=) | |
| 8 | g.60836111C>A | CA371316171 | CHD7 | c.3817C>A (p.His1273Asn) c.1717-26118C>A (n.1717-26118C>A) c.1804C>A (p.His602Asn) c.1354C>A (p.His452Asn) c.562C>A (p.His188Asn) | |
| 8 | g.60836111C>G | CA371316172 | CHD7 | c.3817C>G (p.His1273Asp) c.1717-26118C>G (n.1717-26118C>G) c.1804C>G (p.His602Asp) c.1354C>G (p.His452Asp) c.562C>G (p.His188Asp) | |
| 8 | g.60836111C>T | CA371316173 | CHD7 | c.3817C>T (p.His1273Tyr) c.1717-26118C>T (n.1717-26118C>T) c.1804C>T (p.His602Tyr) c.1354C>T (p.His452Tyr) c.562C>T (p.His188Tyr) | |
| 8 | g.60836112del | CA2740095053 | CHD7 | c.3818del (p.His1273ProfsTer13) c.1717-26117del (n.1717-26117del) c.1805del (p.His602ProfsTer13) c.1355del (p.His452ProfsTer13) c.563del (p.His188ProfsTer13) | ClinVar |
| 8 | g.60836112A>C | CA371316176 | CHD7 | c.3818A>C (p.His1273Pro) c.1717-26117A>C (n.1717-26117A>C) c.1805A>C (p.His602Pro) c.1355A>C (p.His452Pro) c.563A>C (p.His188Pro) | |
| 8 | g.60836112A>G | CA371316174 | CHD7 | c.3818A>G (p.His1273Arg) c.1717-26117A>G (n.1717-26117A>G) c.1805A>G (p.His602Arg) c.1355A>G (p.His452Arg) c.563A>G (p.His188Arg) | |
| 8 | g.60836112A>T | CA371316175 | CHD7 | c.3818A>T (p.His1273Leu) c.1717-26117A>T (n.1717-26117A>T) c.1805A>T (p.His602Leu) c.1355A>T (p.His452Leu) c.563A>T (p.His188Leu) | |
| 8 | g.60836113C>A | CA371316177 | CHD7 | c.3819C>A (p.His1273Gln) c.1717-26116C>A (n.1717-26116C>A) c.1806C>A (p.His602Gln) c.1356C>A (p.His452Gln) c.564C>A (p.His188Gln) | |
| 8 | g.60836113C>G | CA371316178 | CHD7 | c.3819C>G (p.His1273Gln) c.1717-26116C>G (n.1717-26116C>G) c.1806C>G (p.His602Gln) c.1356C>G (p.His452Gln) c.564C>G (p.His188Gln) | |
| 8 | g.60836113C>T | CA460846687 | CHD7 | c.3819C>T (p.His1273=) c.1717-26116C>T (n.1717-26116C>T) c.1806C>T (p.His602=) c.1356C>T (p.His452=) c.564C>T (p.His188=) | gnomAD v4 |
| 8 | g.60836114A= | CA1788112358 | CHD7 | c.3820A= (p.Asn1274=) c.1717-26115A= (n.1717-26115A=) c.1807A= (p.Asn603=) c.1357A= (p.Asn453=) c.565A= (p.Asn189=) | |
| 8 | g.60836114A>C | CA371316179 | CHD7 | c.3820A>C (p.Asn1274His) c.1717-26115A>C (n.1717-26115A>C) c.1807A>C (p.Asn603His) c.1357A>C (p.Asn453His) c.565A>C (p.Asn189His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60836114A>G | CA371316180 | CHD7 | c.3820A>G (p.Asn1274Asp) c.1717-26115A>G (n.1717-26115A>G) c.1807A>G (p.Asn603Asp) c.1357A>G (p.Asn453Asp) c.565A>G (p.Asn189Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836114A>T | CA371316181 | CHD7 | c.3820A>T (p.Asn1274Tyr) c.1717-26115A>T (n.1717-26115A>T) c.1807A>T (p.Asn603Tyr) c.1357A>T (p.Asn453Tyr) c.565A>T (p.Asn189Tyr) | |
| 8 | g.60836115A= | CA1788112361 | CHD7 | c.3821A= (p.Asn1274=) c.1717-26114A= (n.1717-26114A=) c.1808A= (p.Asn603=) c.1358A= (p.Asn453=) c.566A= (p.Asn189=) | |
| 8 | g.60836115A>C | CA371316182 | CHD7 | c.3821A>C (p.Asn1274Thr) c.1717-26114A>C (n.1717-26114A>C) c.1808A>C (p.Asn603Thr) c.1358A>C (p.Asn453Thr) c.566A>C (p.Asn189Thr) | |
| 8 | g.60836115A>G | CA371316184 | CHD7 | c.3821A>G (p.Asn1274Ser) c.1717-26114A>G (n.1717-26114A>G) c.1808A>G (p.Asn603Ser) c.1358A>G (p.Asn453Ser) c.566A>G (p.Asn189Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60836115A>T | CA371316183 | CHD7 | c.3821A>T (p.Asn1274Ile) c.1717-26114A>T (n.1717-26114A>T) c.1808A>T (p.Asn603Ile) c.1358A>T (p.Asn453Ile) c.566A>T (p.Asn189Ile) | |
| 8 | g.60836116T>A | CA371316185 | CHD7 | c.3822T>A (p.Asn1274Lys) c.1717-26113T>A (n.1717-26113T>A) c.1809T>A (p.Asn603Lys) c.1359T>A (p.Asn453Lys) c.567T>A (p.Asn189Lys) | |
| 8 | g.60836116T>C | CA460846689 | CHD7 | c.3822T>C (p.Asn1274=) c.1717-26113T>C (n.1717-26113T>C) c.1809T>C (p.Asn603=) c.1359T>C (p.Asn453=) c.567T>C (p.Asn189=) | gnomAD v4 |
| 8 | g.60836116T>G | CA4760032 | CHD7 | c.3822T>G (p.Asn1274Lys) c.1717-26113T>G (n.1717-26113T>G) c.1809T>G (p.Asn603Lys) c.1359T>G (p.Asn453Lys) c.567T>G (p.Asn189Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60836116T= | CA1788112363 | CHD7 | c.3822T= (p.Asn1274=) c.1717-26113T= (n.1717-26113T=) c.1809T= (p.Asn603=) c.1359T= (p.Asn453=) c.567T= (p.Asn189=) | |
| 8 | g.60836117G>A | CA371316186 | CHD7 | c.3823G>A (p.Ala1275Thr) c.1717-26112G>A (n.1717-26112G>A) c.1810G>A (p.Ala604Thr) c.1360G>A (p.Ala454Thr) c.568G>A (p.Ala190Thr) | |
| 8 | g.60836117G>C | CA371316187 | CHD7 | c.3823G>C (p.Ala1275Pro) c.1717-26112G>C (n.1717-26112G>C) c.1810G>C (p.Ala604Pro) c.1360G>C (p.Ala454Pro) c.568G>C (p.Ala190Pro) | |
| 8 | g.60836117G>T | CA371316188 | CHD7 | c.3823G>T (p.Ala1275Ser) c.1717-26112G>T (n.1717-26112G>T) c.1810G>T (p.Ala604Ser) c.1360G>T (p.Ala454Ser) c.568G>T (p.Ala190Ser) | |
| 8 | g.60836118C>A | CA4760033 | CHD7 | c.3824C>A (p.Ala1275Glu) c.1717-26111C>A (n.1717-26111C>A) c.1811C>A (p.Ala604Glu) c.1361C>A (p.Ala454Glu) c.569C>A (p.Ala190Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |