| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94060699_94062639del | CA2580101943 | ABCA4 | c.1876_1999del c.-65+536_-65+2476del (n.-65+536_-65+2476del) | ClinVar |
| 1 | g.94062605_94062643del | CA2580063558 | ABCA4 | c.1874_1912del (p.Gln625_Met637del) c.-65+534_-65+572del (n.-65+534_-65+572del) | ClinVar |
| 1 | g.94062608G>A | CA10588302 | ABCA4 | c.1906C>T (p.Gln636Ter) c.-65+566C>T (n.-65+566C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062608G>C | CA341279280 | ABCA4 | c.1906C>G (p.Gln636Glu) c.-65+566C>G (n.-65+566C>G) | |
| 1 | g.94062608G= | CA1142086186 | ABCA4 | c.1906C= (p.Gln636=) c.-65+566C= (n.-65+566C=) | |
| 1 | g.94062608G>T | CA341279281 | ABCA4 | c.1906C>A (p.Gln636Lys) c.-65+566C>A (n.-65+566C>A) | ClinVar gnomAD v4 |
| 1 | g.94062609C>A | CA341279282 | ABCA4 | c.1905G>T (p.Gln635His) c.-65+565G>T (n.-65+565G>T) | gnomAD v4 |
| 1 | g.94062609C= | CA1181418809 | ABCA4 | c.1905G= (p.Gln635=) c.-65+565G= (n.-65+565G=) | |
| 1 | g.94062609C>G | CA341279283 | ABCA4 | c.1905G>C (p.Gln635His) c.-65+565G>C (n.-65+565G>C) | |
| 1 | g.94062609C>T | CA958402 | ABCA4 | c.1905G>A (p.Gln635=) c.-65+565G>A (n.-65+565G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062610T>A | CA341279284 | ABCA4 | c.1904A>T (p.Gln635Leu) c.-65+564A>T (n.-65+564A>T) | |
| 1 | g.94062610T>C | CA341279285 | ABCA4 | c.1904A>G (p.Gln635Arg) c.-65+564A>G (n.-65+564A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062610T>G | CA341279286 | ABCA4 | c.1904A>C (p.Gln635Pro) c.-65+564A>C (n.-65+564A>C) | |
| 1 | g.94062610T= | CA1181418810 | ABCA4 | c.1904A= (p.Gln635=) c.-65+564A= (n.-65+564A=) | |
| 1 | g.94062611G>A | CA226949 | ABCA4 | c.1903C>T (p.Gln635Ter) c.-65+563C>T (n.-65+563C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062611G>C | CA341279287 | ABCA4 | c.1903C>G (p.Gln635Glu) c.-65+563C>G (n.-65+563C>G) | |
| 1 | g.94062611G= | CA1140726063 | ABCA4 | c.1903C= (p.Gln635=) c.-65+563C= (n.-65+563C=) | |
| 1 | g.94062611G>T | CA226948 | ABCA4 | c.1903C>A (p.Gln635Lys) c.-65+563C>A (n.-65+563C>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062612G>A | CA418822028 | ABCA4 | c.1902C>T (p.Leu634=) c.-65+562C>T (n.-65+562C>T) | |
| 1 | g.94062612G>C | CA418822030 | ABCA4 | c.1902C>G (p.Leu634=) c.-65+562C>G (n.-65+562C>G) | ClinVar |
| 1 | g.94062612G>T | CA418822031 | ABCA4 | c.1902C>A (p.Leu634=) c.-65+562C>A (n.-65+562C>A) | |
| 1 | g.94062613A= | CA1181418811 | ABCA4 | c.1901T= (p.Leu634=) c.-65+561T= (n.-65+561T=) | |
| 1 | g.94062613A>C | CA341279289 | ABCA4 | c.1901T>G (p.Leu634Arg) c.-65+561T>G (n.-65+561T>G) | |
| 1 | g.94062613A>G | CA341279288 | ABCA4 | c.1901T>C (p.Leu634Pro) c.-65+561T>C (n.-65+561T>C) | ClinVar |
| 1 | g.94062613A>T | CA26848027 | ABCA4 | c.1901T>A (p.Leu634His) c.-65+561T>A (n.-65+561T>A) | dbSNP |
| 1 | g.94062614G>A | CA341279290 | ABCA4 | c.1900C>T (p.Leu634Phe) c.-65+560C>T (n.-65+560C>T) | gnomAD v4 |
| 1 | g.94062614G>C | CA341279292 | ABCA4 | c.1900C>G (p.Leu634Val) c.-65+560C>G (n.-65+560C>G) | |
| 1 | g.94062614G>T | CA341279291 | ABCA4 | c.1900C>A (p.Leu634Ile) c.-65+560C>A (n.-65+560C>A) | |
| 1 | g.94062615G>A | CA418822035 | ABCA4 | c.1899C>T (p.Tyr633=) c.-65+559C>T (n.-65+559C>T) | |
| 1 | g.94062615G>C | CA341279293 | ABCA4 | c.1899C>G (p.Tyr633Ter) c.-65+559C>G (n.-65+559C>G) | |
| 1 | g.94062615G>T | CA341279294 | ABCA4 | c.1899C>A (p.Tyr633Ter) c.-65+559C>A (n.-65+559C>A) | |
| 1 | g.94062615_94062620del | CA2574438639 | ABCA4 | c.1894_1899del (p.Ile632_Tyr633del) c.-65+554_-65+559del (n.-65+554_-65+559del) | |
| 1 | g.94062616T>A | CA341279295 | ABCA4 | c.1898A>T (p.Tyr633Phe) c.-65+558A>T (n.-65+558A>T) | |
| 1 | g.94062616T>C | CA341279296 | ABCA4 | c.1898A>G (p.Tyr633Cys) c.-65+558A>G (n.-65+558A>G) | |
| 1 | g.94062616T>G | CA341279297 | ABCA4 | c.1898A>C (p.Tyr633Ser) c.-65+558A>C (n.-65+558A>C) | dbSNP |
| 1 | g.94062616T= | CA1181418812 | ABCA4 | c.1898A= (p.Tyr633=) c.-65+558A= (n.-65+558A=) | |
| 1 | g.94062617A>C | CA341279298 | ABCA4 | c.1897T>G (p.Tyr633Asp) c.-65+557T>G (n.-65+557T>G) | |
| 1 | g.94062617A>G | CA341279299 | ABCA4 | c.1897T>C (p.Tyr633His) c.-65+557T>C (n.-65+557T>C) | |
| 1 | g.94062617A>T | CA341279300 | ABCA4 | c.1897T>A (p.Tyr633Asn) c.-65+557T>A (n.-65+557T>A) | COSMIC COSMIC |
| 1 | g.94062618G>A | CA418822037 | ABCA4 | c.1896C>T (p.Ile632=) c.-65+556C>T (n.-65+556C>T) | |
| 1 | g.94062618G>C | CA341279301 | ABCA4 | c.1896C>G (p.Ile632Met) c.-65+556C>G (n.-65+556C>G) | |
| 1 | g.94062618G>T | CA418822038 | ABCA4 | c.1896C>A (p.Ile632=) c.-65+556C>A (n.-65+556C>A) | |
| 1 | g.94062619A>C | CA341279302 | ABCA4 | c.1895T>G (p.Ile632Ser) c.-65+555T>G (n.-65+555T>G) | |
| 1 | g.94062619A>G | CA341279304 | ABCA4 | c.1895T>C (p.Ile632Thr) c.-65+555T>C (n.-65+555T>C) | |
| 1 | g.94062619A>T | CA341279303 | ABCA4 | c.1895T>A (p.Ile632Asn) c.-65+555T>A (n.-65+555T>A) | |
| 1 | g.94062619_94062620delinsAT | CA1181418813 | ABCA4 | c.1894_1895delinsAT (p.Ile632=) c.-65+554_-65+555delinsAT (n.-65+554_-65+555delinsAT) | |
| 1 | g.94062620T>A | CA341279305 | ABCA4 | c.1894A>T (p.Ile632Phe) c.-65+554A>T (n.-65+554A>T) | gnomAD v4 |
| 1 | g.94062620T>C | CA341279306 | ABCA4 | c.1894A>G (p.Ile632Val) c.-65+554A>G (n.-65+554A>G) | |
| 1 | g.94062620T>G | CA341279307 | ABCA4 | c.1894A>C (p.Ile632Leu) c.-65+554A>C (n.-65+554A>C) | |
| 1 | g.94062620_94062621delinsTT | CA1140726066 | ABCA4 | c.1893_1894delinsAA (p.Gly631=) c.-65+553_-65+554delinsAA (n.-65+553_-65+554delinsAA) |