| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60848820_60849136delinsATCCAAACACACCATGT | CA2739268791 | CHD7 | c.5300+216_5386delinsATCCAAACACACCATGT c.1717-13409_1717-13093delinsATCCAAACACACCATGT (n.1717-13409_1717-13093delinsATCCAAACACACCATGT) c.5390+216_5476delinsATCCAAACACACCATGT c.3377+216_3463delinsATCCAAACACACCATGT c.2927+216_3013delinsATCCAAACACACCATGT c.2135+216_2221delinsATCCAAACACACCATGT | ClinVar |
| 8 | g.60849105G>A | CA371321178 | CHD7 | c.5355G>A (p.Trp1785Ter) c.1717-13124G>A (n.1717-13124G>A) c.5445G>A (p.Trp1815Ter) c.3432G>A (p.Trp1144Ter) c.2982G>A (p.Trp994Ter) c.2190G>A (p.Trp730Ter) | ClinVar dbSNP |
| 8 | g.60849105G>C | CA371321176 | CHD7 | c.5355G>C (p.Trp1785Cys) c.1717-13124G>C (n.1717-13124G>C) c.5445G>C (p.Trp1815Cys) c.3432G>C (p.Trp1144Cys) c.2982G>C (p.Trp994Cys) c.2190G>C (p.Trp730Cys) | |
| 8 | g.60849105G= | CA1788134772 | CHD7 | c.5355G= (p.Trp1785=) c.1717-13124G= (n.1717-13124G=) c.5445G= (p.Trp1815=) c.3432G= (p.Trp1144=) c.2982G= (p.Trp994=) c.2190G= (p.Trp730=) | |
| 8 | g.60849105G>T | CA371321174 | CHD7 | c.5355G>T (p.Trp1785Cys) c.1717-13124G>T (n.1717-13124G>T) c.5445G>T (p.Trp1815Cys) c.3432G>T (p.Trp1144Cys) c.2982G>T (p.Trp994Cys) c.2190G>T (p.Trp730Cys) | |
| 8 | g.60849106T>A | CA371321179 | CHD7 | c.5356T>A (p.Trp1786Arg) c.1717-13123T>A (n.1717-13123T>A) c.5446T>A (p.Trp1816Arg) c.3433T>A (p.Trp1145Arg) c.2983T>A (p.Trp995Arg) c.2191T>A (p.Trp731Arg) | |
| 8 | g.60849106T>C | CA371321180 | CHD7 | c.5356T>C (p.Trp1786Arg) c.1717-13123T>C (n.1717-13123T>C) c.5446T>C (p.Trp1816Arg) c.3433T>C (p.Trp1145Arg) c.2983T>C (p.Trp995Arg) c.2191T>C (p.Trp731Arg) | ClinVar dbSNP |
| 8 | g.60849106T>G | CA371321182 | CHD7 | c.5356T>G (p.Trp1786Gly) c.1717-13123T>G (n.1717-13123T>G) c.5446T>G (p.Trp1816Gly) c.3433T>G (p.Trp1145Gly) c.2983T>G (p.Trp995Gly) c.2191T>G (p.Trp731Gly) | |
| 8 | g.60849107G>A | CA371321184 | CHD7 | c.5357G>A (p.Trp1786Ter) c.1717-13122G>A (n.1717-13122G>A) c.5447G>A (p.Trp1816Ter) c.3434G>A (p.Trp1145Ter) c.2984G>A (p.Trp995Ter) c.2192G>A (p.Trp731Ter) | ClinVar dbSNP |
| 8 | g.60849107G>C | CA371321185 | CHD7 | c.5357G>C (p.Trp1786Ser) c.1717-13122G>C (n.1717-13122G>C) c.5447G>C (p.Trp1816Ser) c.3434G>C (p.Trp1145Ser) c.2984G>C (p.Trp995Ser) c.2192G>C (p.Trp731Ser) | |
| 8 | g.60849107G= | CA1788134780 | CHD7 | c.5357G= (p.Trp1786=) c.1717-13122G= (n.1717-13122G=) c.5447G= (p.Trp1816=) c.3434G= (p.Trp1145=) c.2984G= (p.Trp995=) c.2192G= (p.Trp731=) | |
| 8 | g.60849107G>T | CA371321186 | CHD7 | c.5357G>T (p.Trp1786Leu) c.1717-13122G>T (n.1717-13122G>T) c.5447G>T (p.Trp1816Leu) c.3434G>T (p.Trp1145Leu) c.2984G>T (p.Trp995Leu) c.2192G>T (p.Trp731Leu) | |
| 8 | g.60849108G>A | CA371321188 | CHD7 | c.5358G>A (p.Trp1786Ter) c.1717-13121G>A (n.1717-13121G>A) c.5448G>A (p.Trp1816Ter) c.3435G>A (p.Trp1145Ter) c.2985G>A (p.Trp995Ter) c.2193G>A (p.Trp731Ter) | |
| 8 | g.60849108G>C | CA371321191 | CHD7 | c.5358G>C (p.Trp1786Cys) c.1717-13121G>C (n.1717-13121G>C) c.5448G>C (p.Trp1816Cys) c.3435G>C (p.Trp1145Cys) c.2985G>C (p.Trp995Cys) c.2193G>C (p.Trp731Cys) | |
| 8 | g.60849108G>T | CA371321189 | CHD7 | c.5358G>T (p.Trp1786Cys) c.1717-13121G>T (n.1717-13121G>T) c.5448G>T (p.Trp1816Cys) c.3435G>T (p.Trp1145Cys) c.2985G>T (p.Trp995Cys) c.2193G>T (p.Trp731Cys) | |
| 8 | g.60849109G>A | CA371321193 | CHD7 | c.5359G>A (p.Asp1787Asn) c.1717-13120G>A (n.1717-13120G>A) c.5449G>A (p.Asp1817Asn) c.3436G>A (p.Asp1146Asn) c.2986G>A (p.Asp996Asn) c.2194G>A (p.Asp732Asn) | COSMIC |
| 8 | g.60849109G>C | CA371321194 | CHD7 | c.5359G>C (p.Asp1787His) c.1717-13120G>C (n.1717-13120G>C) c.5449G>C (p.Asp1817His) c.3436G>C (p.Asp1146His) c.2986G>C (p.Asp996His) c.2194G>C (p.Asp732His) | |
| 8 | g.60849109G>T | CA371321195 | CHD7 | c.5359G>T (p.Asp1787Tyr) c.1717-13120G>T (n.1717-13120G>T) c.5449G>T (p.Asp1817Tyr) c.3436G>T (p.Asp1146Tyr) c.2986G>T (p.Asp996Tyr) c.2194G>T (p.Asp732Tyr) | |
| 8 | g.60849110A= | CA1788134787 | CHD7 | c.5360A= (p.Asp1787=) c.1717-13119A= (n.1717-13119A=) c.5450A= (p.Asp1817=) c.3437A= (p.Asp1146=) c.2987A= (p.Asp996=) c.2195A= (p.Asp732=) | |
| 8 | g.60849110A>C | CA371321197 | CHD7 | c.5360A>C (p.Asp1787Ala) c.1717-13119A>C (n.1717-13119A>C) c.5450A>C (p.Asp1817Ala) c.3437A>C (p.Asp1146Ala) c.2987A>C (p.Asp996Ala) c.2195A>C (p.Asp732Ala) | ClinVar dbSNP |
| 8 | g.60849110A>G | CA371321199 | CHD7 | c.5360A>G (p.Asp1787Gly) c.1717-13119A>G (n.1717-13119A>G) c.5450A>G (p.Asp1817Gly) c.3437A>G (p.Asp1146Gly) c.2987A>G (p.Asp996Gly) c.2195A>G (p.Asp732Gly) | |
| 8 | g.60849110A>T | CA371321200 | CHD7 | c.5360A>T (p.Asp1787Val) c.1717-13119A>T (n.1717-13119A>T) c.5450A>T (p.Asp1817Val) c.3437A>T (p.Asp1146Val) c.2987A>T (p.Asp996Val) c.2195A>T (p.Asp732Val) | gnomAD v4 |
| 8 | g.60849111T>A | CA371321202 | CHD7 | c.5361T>A (p.Asp1787Glu) c.1717-13118T>A (n.1717-13118T>A) c.5451T>A (p.Asp1817Glu) c.3438T>A (p.Asp1146Glu) c.2988T>A (p.Asp996Glu) c.2196T>A (p.Asp732Glu) | gnomAD v4 |
| 8 | g.60849111T>C | CA460848458 | CHD7 | c.5361T>C (p.Asp1787=) c.1717-13118T>C (n.1717-13118T>C) c.5451T>C (p.Asp1817=) c.3438T>C (p.Asp1146=) c.2988T>C (p.Asp996=) c.2196T>C (p.Asp732=) | |
| 8 | g.60849111T>G | CA371321203 | CHD7 | c.5361T>G (p.Asp1787Glu) c.1717-13118T>G (n.1717-13118T>G) c.5451T>G (p.Asp1817Glu) c.3438T>G (p.Asp1146Glu) c.2988T>G (p.Asp996Glu) c.2196T>G (p.Asp732Glu) | |
| 8 | g.60849112A>C | CA371321205 | CHD7 | c.5362A>C (p.Lys1788Gln) c.1717-13117A>C (n.1717-13117A>C) c.5452A>C (p.Lys1818Gln) c.3439A>C (p.Lys1147Gln) c.2989A>C (p.Lys997Gln) c.2197A>C (p.Lys733Gln) | |
| 8 | g.60849112A>G | CA371321206 | CHD7 | c.5362A>G (p.Lys1788Glu) c.1717-13117A>G (n.1717-13117A>G) c.5452A>G (p.Lys1818Glu) c.3439A>G (p.Lys1147Glu) c.2989A>G (p.Lys997Glu) c.2197A>G (p.Lys733Glu) | |
| 8 | g.60849112A>T | CA371321208 | CHD7 | c.5362A>T (p.Lys1788Ter) c.1717-13117A>T (n.1717-13117A>T) c.5452A>T (p.Lys1818Ter) c.3439A>T (p.Lys1147Ter) c.2989A>T (p.Lys997Ter) c.2197A>T (p.Lys733Ter) | |
| 8 | g.60849113A>C | CA371321209 | CHD7 | c.5363A>C (p.Lys1788Thr) c.1717-13116A>C (n.1717-13116A>C) c.5453A>C (p.Lys1818Thr) c.3440A>C (p.Lys1147Thr) c.2990A>C (p.Lys997Thr) c.2198A>C (p.Lys733Thr) | |
| 8 | g.60849113A>G | CA371321212 | CHD7 | c.5363A>G (p.Lys1788Arg) c.1717-13116A>G (n.1717-13116A>G) c.5453A>G (p.Lys1818Arg) c.3440A>G (p.Lys1147Arg) c.2990A>G (p.Lys997Arg) c.2198A>G (p.Lys733Arg) | |
| 8 | g.60849113A>T | CA371321211 | CHD7 | c.5363A>T (p.Lys1788Met) c.1717-13116A>T (n.1717-13116A>T) c.5453A>T (p.Lys1818Met) c.3440A>T (p.Lys1147Met) c.2990A>T (p.Lys997Met) c.2198A>T (p.Lys733Met) | |
| 8 | g.60849114G>A | CA460848459 | CHD7 | c.5364G>A (p.Lys1788=) c.1717-13115G>A (n.1717-13115G>A) c.5454G>A (p.Lys1818=) c.3441G>A (p.Lys1147=) c.2991G>A (p.Lys997=) c.2199G>A (p.Lys733=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60849114G>C | CA371321214 | CHD7 | c.5364G>C (p.Lys1788Asn) c.1717-13115G>C (n.1717-13115G>C) c.5454G>C (p.Lys1818Asn) c.3441G>C (p.Lys1147Asn) c.2991G>C (p.Lys997Asn) c.2199G>C (p.Lys733Asn) | |
| 8 | g.60849114G= | CA1788134792 | CHD7 | c.5364G= (p.Lys1788=) c.1717-13115G= (n.1717-13115G=) c.5454G= (p.Lys1818=) c.3441G= (p.Lys1147=) c.2991G= (p.Lys997=) c.2199G= (p.Lys733=) | |
| 8 | g.60849114G>T | CA371321215 | CHD7 | c.5364G>T (p.Lys1788Asn) c.1717-13115G>T (n.1717-13115G>T) c.5454G>T (p.Lys1818Asn) c.3441G>T (p.Lys1147Asn) c.2991G>T (p.Lys997Asn) c.2199G>T (p.Lys733Asn) | |
| 8 | g.60849115G>A | CA371321216 | CHD7 | c.5365G>A (p.Glu1789Lys) c.1717-13114G>A (n.1717-13114G>A) c.5455G>A (p.Glu1819Lys) c.3442G>A (p.Glu1148Lys) c.2992G>A (p.Glu998Lys) c.2200G>A (p.Glu734Lys) | |
| 8 | g.60849115G>C | CA371321218 | CHD7 | c.5365G>C (p.Glu1789Gln) c.1717-13114G>C (n.1717-13114G>C) c.5455G>C (p.Glu1819Gln) c.3442G>C (p.Glu1148Gln) c.2992G>C (p.Glu998Gln) c.2200G>C (p.Glu734Gln) | |
| 8 | g.60849115G>T | CA371321219 | CHD7 | c.5365G>T (p.Glu1789Ter) c.1717-13114G>T (n.1717-13114G>T) c.5455G>T (p.Glu1819Ter) c.3442G>T (p.Glu1148Ter) c.2992G>T (p.Glu998Ter) c.2200G>T (p.Glu734Ter) | |
| 8 | g.60849116A= | CA1788134797 | CHD7 | c.5366A= (p.Glu1789=) c.1717-13113A= (n.1717-13113A=) c.5456A= (p.Glu1819=) c.3443A= (p.Glu1148=) c.2993A= (p.Glu998=) c.2201A= (p.Glu734=) | |
| 8 | g.60849116A>C | CA371321221 | CHD7 | c.5366A>C (p.Glu1789Ala) c.1717-13113A>C (n.1717-13113A>C) c.5456A>C (p.Glu1819Ala) c.3443A>C (p.Glu1148Ala) c.2993A>C (p.Glu998Ala) c.2201A>C (p.Glu734Ala) | |
| 8 | g.60849116A>G | CA4760344 | CHD7 | c.5366A>G (p.Glu1789Gly) c.1717-13113A>G (n.1717-13113A>G) c.5456A>G (p.Glu1819Gly) c.3443A>G (p.Glu1148Gly) c.2993A>G (p.Glu998Gly) c.2201A>G (p.Glu734Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60849116A>T | CA371321223 | CHD7 | c.5366A>T (p.Glu1789Val) c.1717-13113A>T (n.1717-13113A>T) c.5456A>T (p.Glu1819Val) c.3443A>T (p.Glu1148Val) c.2993A>T (p.Glu998Val) c.2201A>T (p.Glu734Val) | |
| 8 | g.60849117A= | CA1788134804 | CHD7 | c.5367A= (p.Glu1789=) c.1717-13112A= (n.1717-13112A=) c.5457A= (p.Glu1819=) c.3444A= (p.Glu1148=) c.2994A= (p.Glu998=) c.2202A= (p.Glu734=) | |
| 8 | g.60849117A>C | CA371321225 | CHD7 | c.5367A>C (p.Glu1789Asp) c.1717-13112A>C (n.1717-13112A>C) c.5457A>C (p.Glu1819Asp) c.3444A>C (p.Glu1148Asp) c.2994A>C (p.Glu998Asp) c.2202A>C (p.Glu734Asp) | |
| 8 | g.60849117A>G | CA460848460 | CHD7 | c.5367A>G (p.Glu1789=) c.1717-13112A>G (n.1717-13112A>G) c.5457A>G (p.Glu1819=) c.3444A>G (p.Glu1148=) c.2994A>G (p.Glu998=) c.2202A>G (p.Glu734=) | gnomAD v4 |
| 8 | g.60849117A>T | CA371321226 | CHD7 | c.5367A>T (p.Glu1789Asp) c.1717-13112A>T (n.1717-13112A>T) c.5457A>T (p.Glu1819Asp) c.3444A>T (p.Glu1148Asp) c.2994A>T (p.Glu998Asp) c.2202A>T (p.Glu734Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60849118G>A | CA4760345 | CHD7 | c.5368G>A (p.Ala1790Thr) c.1717-13111G>A (n.1717-13111G>A) c.5458G>A (p.Ala1820Thr) c.3445G>A (p.Ala1149Thr) c.2995G>A (p.Ala999Thr) c.2203G>A (p.Ala735Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60849118G>C | CA371321229 | CHD7 | c.5368G>C (p.Ala1790Pro) c.1717-13111G>C (n.1717-13111G>C) c.5458G>C (p.Ala1820Pro) c.3445G>C (p.Ala1149Pro) c.2995G>C (p.Ala999Pro) c.2203G>C (p.Ala735Pro) | |
| 8 | g.60849118G= | CA1788134809 | CHD7 | c.5368G= (p.Ala1790=) c.1717-13111G= (n.1717-13111G=) c.5458G= (p.Ala1820=) c.3445G= (p.Ala1149=) c.2995G= (p.Ala999=) c.2203G= (p.Ala735=) | |
| 8 | g.60849118G>T | CA371321230 | CHD7 | c.5368G>T (p.Ala1790Ser) c.1717-13111G>T (n.1717-13111G>T) c.5458G>T (p.Ala1820Ser) c.3445G>T (p.Ala1149Ser) c.2995G>T (p.Ala999Ser) c.2203G>T (p.Ala735Ser) |