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 |
|---|---|---|---|---|---|
| 1 | g.94060699_94062639del | CA2580101943 | ABCA4 | c.1876_1999del c.-65+536_-65+2476del (n.-65+536_-65+2476del) | ClinVar |
| 1 | g.94062580_94062590dup | CA2646651743 | ABCA4 | c.1930_1937+3dup c.-65+590_-65+600dup (n.-65+590_-65+600dup) | gnomAD v4 |
| 1 | g.94062581C>A | CA958397 | ABCA4 | c.1933G>T (p.Asp645Tyr) c.-65+593G>T (n.-65+593G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062581C= | CA1140726044 | ABCA4 | c.1933G= (p.Asp645=) c.-65+593G= (n.-65+593G=) | |
| 1 | g.94062581C>G | CA341279133 | ABCA4 | c.1933G>C (p.Asp645His) c.-65+593G>C (n.-65+593G>C) | |
| 1 | g.94062581C>T | CA226960 | ABCA4 | c.1933G>A (p.Asp645Asn) c.-65+593G>A (n.-65+593G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062582_94062585del | CA645521474 | ABCA4 | c.1930_1933del (p.Asp644IlefsTer4) c.-65+590_-65+593del (n.-65+590_-65+593del) | COSMIC COSMIC |
| 1 | g.94062582del | CA2696611702 | ABCA4 | c.1932del (p.Asp644GlufsTer5) c.-65+592del (n.-65+592del) | dbSNP |
| 1 | g.94062582G>A | CA958398 | ABCA4 | c.1932C>T (p.Asp644=) c.-65+592C>T (n.-65+592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062582G>C | CA341279137 | ABCA4 | c.1932C>G (p.Asp644Glu) c.-65+592C>G (n.-65+592C>G) | |
| 1 | g.94062582G= | CA1141565955 | ABCA4 | c.1932C= (p.Asp644=) c.-65+592C= (n.-65+592C=) | |
| 1 | g.94062582G>T | CA341279139 | ABCA4 | c.1932C>A (p.Asp644Glu) c.-65+592C>A (n.-65+592C>A) | ClinVar |
| 1 | g.94062583T>A | CA341279142 | ABCA4 | c.1931A>T (p.Asp644Val) c.-65+591A>T (n.-65+591A>T) | |
| 1 | g.94062583T>C | CA341279145 | ABCA4 | c.1931A>G (p.Asp644Gly) c.-65+591A>G (n.-65+591A>G) | |
| 1 | g.94062583T>G | CA341279144 | ABCA4 | c.1931A>C (p.Asp644Ala) c.-65+591A>C (n.-65+591A>C) | |
| 1 | g.94062584C>A | CA341279146 | ABCA4 | c.1930G>T (p.Asp644Tyr) c.-65+590G>T (n.-65+590G>T) | |
| 1 | g.94062584C>G | CA341279148 | ABCA4 | c.1930G>C (p.Asp644His) c.-65+590G>C (n.-65+590G>C) | |
| 1 | g.94062584C>T | CA341279150 | ABCA4 | c.1930G>A (p.Asp644Asn) c.-65+590G>A (n.-65+590G>A) | gnomAD v4 |
| 1 | g.94062585C>A | CA418821785 | ABCA4 | c.1929G>T (p.Val643=) c.-65+589G>T (n.-65+589G>T) | |
| 1 | g.94062585C>G | CA418821786 | ABCA4 | c.1929G>C (p.Val643=) c.-65+589G>C (n.-65+589G>C) | |
| 1 | g.94062585C>T | CA418821788 | ABCA4 | c.1929G>A (p.Val643=) c.-65+589G>A (n.-65+589G>A) | gnomAD v4 |
| 1 | g.94062586A= | CA1140726049 | ABCA4 | c.1928T= (p.Val643=) c.-65+588T= (n.-65+588T=) | |
| 1 | g.94062586A>C | CA226958 | ABCA4 | c.1928T>G (p.Val643Gly) c.-65+588T>G (n.-65+588T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062586A>G | CA341279152 | ABCA4 | c.1928T>C (p.Val643Ala) c.-65+588T>C (n.-65+588T>C) | dbSNP |
| 1 | g.94062586A>T | CA341279154 | ABCA4 | c.1928T>A (p.Val643Glu) c.-65+588T>A (n.-65+588T>A) | |
| 1 | g.94062587C>A | CA341279156 | ABCA4 | c.1927G>T (p.Val643Leu) c.-65+587G>T (n.-65+587G>T) | |
| 1 | g.94062587C= | CA1140726051 | ABCA4 | c.1927G= (p.Val643=) c.-65+587G= (n.-65+587G=) | |
| 1 | g.94062587C>G | CA341279158 | ABCA4 | c.1927G>C (p.Val643Leu) c.-65+587G>C (n.-65+587G>C) | ClinVar dbSNP |
| 1 | g.94062587C>T | CA201008 | ABCA4 | c.1927G>A (p.Val643Met) c.-65+587G>A (n.-65+587G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062588G>A | CA418821793 | ABCA4 | c.1926C>T (p.Phe642=) c.-65+586C>T (n.-65+586C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062588G>C | CA341279161 | ABCA4 | c.1926C>G (p.Phe642Leu) c.-65+586C>G (n.-65+586C>G) | |
| 1 | g.94062588G= | CA1181418800 | ABCA4 | c.1926C= (p.Phe642=) c.-65+586C= (n.-65+586C=) | |
| 1 | g.94062588G>T | CA341279163 | ABCA4 | c.1926C>A (p.Phe642Leu) c.-65+586C>A (n.-65+586C>A) | |
| 1 | g.94062589A>C | CA341279165 | ABCA4 | c.1925T>G (p.Phe642Cys) c.-65+585T>G (n.-65+585T>G) | |
| 1 | g.94062589A>G | CA341279169 | ABCA4 | c.1925T>C (p.Phe642Ser) c.-65+585T>C (n.-65+585T>C) | |
| 1 | g.94062589A>T | CA341279167 | ABCA4 | c.1925T>A (p.Phe642Tyr) c.-65+585T>A (n.-65+585T>A) | |
| 1 | g.94062590A>C | CA341279172 | ABCA4 | c.1924T>G (p.Phe642Val) c.-65+584T>G (n.-65+584T>G) | |
| 1 | g.94062590A>G | CA341279174 | ABCA4 | c.1924T>C (p.Phe642Leu) c.-65+584T>C (n.-65+584T>C) | |
| 1 | g.94062590A>T | CA341279176 | ABCA4 | c.1924T>A (p.Phe642Ile) c.-65+584T>A (n.-65+584T>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062591G>A | CA418821797 | ABCA4 | c.1923C>T (p.Cys641=) c.-65+583C>T (n.-65+583C>T) | |
| 1 | g.94062591G>C | CA341279178 | ABCA4 | c.1923C>G (p.Cys641Trp) c.-65+583C>G (n.-65+583C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062591G= | CA1181418801 | ABCA4 | c.1923C= (p.Cys641=) c.-65+583C= (n.-65+583C=) | |
| 1 | g.94062591G>T | CA341279180 | ABCA4 | c.1923C>A (p.Cys641Ter) c.-65+583C>A (n.-65+583C>A) | |
| 1 | g.94062592C>A | CA341279185 | ABCA4 | c.1922G>T (p.Cys641Phe) c.-65+582G>T (n.-65+582G>T) | |
| 1 | g.94062592C= | CA1140726053 | ABCA4 | c.1922G= (p.Cys641=) c.-65+582G= (n.-65+582G=) | |
| 1 | g.94062592C>G | CA226956 | ABCA4 | c.1922G>C (p.Cys641Ser) c.-65+582G>C (n.-65+582G>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062592C>T | CA341279182 | ABCA4 | c.1922G>A (p.Cys641Tyr) c.-65+582G>A (n.-65+582G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062592dup | CA524386476 | ABCA4 | c.1922dup (p.Cys641TrpfsTer?) c.-65+582dup (n.-65+582dup) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062593A= | CA1181418802 | ABCA4 | c.1921T= (p.Cys641=) c.-65+581T= (n.-65+581T=) | |
| 1 | g.94062593A>C | CA341279250 | ABCA4 | c.1921T>G (p.Cys641Gly) c.-65+581T>G (n.-65+581T>G) | ClinVar dbSNP |
| 1 | g.94062593A>G | CA341279251 | ABCA4 | c.1921T>C (p.Cys641Arg) c.-65+581T>C (n.-65+581T>C) | ClinVar dbSNP |
| 1 | g.94062593A>T | CA341279252 | ABCA4 | c.1921T>A (p.Cys641Ser) c.-65+581T>A (n.-65+581T>A) | gnomAD v4 |
| 1 | g.94062594G>A | CA418822005 | ABCA4 | c.1920C>T (p.Pro640=) c.-65+580C>T (n.-65+580C>T) | |
| 1 | g.94062594G>C | CA418822008 | ABCA4 | c.1920C>G (p.Pro640=) c.-65+580C>G (n.-65+580C>G) | gnomAD v4 |
| 1 | g.94062594G>T | CA418822009 | ABCA4 | c.1920C>A (p.Pro640=) c.-65+580C>A (n.-65+580C>A) | |
| 1 | g.94062597del | CA2574438614 | ABCA4 | c.1920del (p.Cys641AlafsTer8) c.-65+580del (n.-65+580del) | |
| 1 | g.94062595G>A | CA16603707 | ABCA4 | c.1919C>T (p.Pro640Leu) c.-65+579C>T (n.-65+579C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062595G>C | CA341279253 | ABCA4 | c.1919C>G (p.Pro640Arg) c.-65+579C>G (n.-65+579C>G) | ClinVar |
| 1 | g.94062595G= | CA1181418803 | ABCA4 | c.1919C= (p.Pro640=) c.-65+579C= (n.-65+579C=) | |
| 1 | g.94062595G>T | CA958399 | ABCA4 | c.1919C>A (p.Pro640His) c.-65+579C>A (n.-65+579C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062596G>A | CA341279254 | ABCA4 | c.1918C>T (p.Pro640Ser) c.-65+578C>T (n.-65+578C>T) | ClinVar gnomAD v4 |
| 1 | g.94062596G>C | CA10602444 | ABCA4 | c.1918C>G (p.Pro640Ala) c.-65+578C>G (n.-65+578C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062596G= | CA1181418804 | ABCA4 | c.1918C= (p.Pro640=) c.-65+578C= (n.-65+578C=) | |
| 1 | g.94062596G>T | CA958400 | ABCA4 | c.1918C>A (p.Pro640Thr) c.-65+578C>A (n.-65+578C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062597G>A | CA226954 | ABCA4 | c.1917C>T (p.Tyr639=) c.-65+577C>T (n.-65+577C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062597G>C | CA341279255 | ABCA4 | c.1917C>G (p.Tyr639Ter) c.-65+577C>G (n.-65+577C>G) | |
| 1 | g.94062597G= | CA1140726056 | ABCA4 | c.1917C= (p.Tyr639=) c.-65+577C= (n.-65+577C=) | |
| 1 | g.94062597G>T | CA226952 | ABCA4 | c.1917C>A (p.Tyr639Ter) c.-65+577C>A (n.-65+577C>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062598T>A | CA341279256 | ABCA4 | c.1916A>T (p.Tyr639Phe) c.-65+576A>T (n.-65+576A>T) | |
| 1 | g.94062598T>C | CA341279257 | ABCA4 | c.1916A>G (p.Tyr639Cys) c.-65+576A>G (n.-65+576A>G) | ClinVar dbSNP |
| 1 | g.94062598T>G | CA341279258 | ABCA4 | c.1916A>C (p.Tyr639Ser) c.-65+576A>C (n.-65+576A>C) | dbSNP gnomAD v4 |
| 1 | g.94062598T= | CA1181418805 | ABCA4 | c.1916A= (p.Tyr639=) c.-65+576A= (n.-65+576A=) | |
| 1 | g.94062599A>C | CA341279259 | ABCA4 | c.1915T>G (p.Tyr639Asp) c.-65+575T>G (n.-65+575T>G) | |
| 1 | g.94062599A>G | CA341279260 | ABCA4 | c.1915T>C (p.Tyr639His) c.-65+575T>C (n.-65+575T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062599A>T | CA341279261 | ABCA4 | c.1915T>A (p.Tyr639Asn) c.-65+575T>A (n.-65+575T>A) | |
| 1 | g.94062600G>A | CA418822015 | ABCA4 | c.1914C>T (p.Pro638=) c.-65+574C>T (n.-65+574C>T) | |
| 1 | g.94062600G>C | CA418822017 | ABCA4 | c.1914C>G (p.Pro638=) c.-65+574C>G (n.-65+574C>G) | |
| 1 | g.94062600G>T | CA418822016 | ABCA4 | c.1914C>A (p.Pro638=) c.-65+574C>A (n.-65+574C>A) | |
| 1 | g.94062601G>A | CA341279262 | ABCA4 | c.1913C>T (p.Pro638Leu) c.-65+573C>T (n.-65+573C>T) | ClinVar dbSNP |
| 1 | g.94062601G>C | CA341279263 | ABCA4 | c.1913C>G (p.Pro638Arg) c.-65+573C>G (n.-65+573C>G) | |
| 1 | g.94062601G= | CA1181418806 | ABCA4 | c.1913C= (p.Pro638=) c.-65+573C= (n.-65+573C=) | |
| 1 | g.94062601G>T | CA341279264 | ABCA4 | c.1913C>A (p.Pro638His) c.-65+573C>A (n.-65+573C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062602G>A | CA958401 | ABCA4 | c.1912C>T (p.Pro638Ser) c.-65+572C>T (n.-65+572C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.94062602G>C | CA341279266 | ABCA4 | c.1912C>G (p.Pro638Ala) c.-65+572C>G (n.-65+572C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062602G= | CA1181418807 | ABCA4 | c.1912C= (p.Pro638=) c.-65+572C= (n.-65+572C=) | |
| 1 | g.94062602G>T | CA341279265 | ABCA4 | c.1912C>A (p.Pro638Thr) c.-65+572C>A (n.-65+572C>A) | |
| 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.94062603C>A | CA341279267 | ABCA4 | c.1911G>T (p.Met637Ile) c.-65+571G>T (n.-65+571G>T) | |
| 1 | g.94062603C>G | CA341279268 | ABCA4 | c.1911G>C (p.Met637Ile) c.-65+571G>C (n.-65+571G>C) | |
| 1 | g.94062603C>T | CA341279269 | ABCA4 | c.1911G>A (p.Met637Ile) c.-65+571G>A (n.-65+571G>A) | |
| 1 | g.94062604A>C | CA341279270 | ABCA4 | c.1910T>G (p.Met637Arg) c.-65+570T>G (n.-65+570T>G) | |
| 1 | g.94062604A>G | CA341279271 | ABCA4 | c.1910T>C (p.Met637Thr) c.-65+570T>C (n.-65+570T>C) | gnomAD v4 |
| 1 | g.94062604A>T | CA341279272 | ABCA4 | c.1910T>A (p.Met637Lys) c.-65+570T>A (n.-65+570T>A) | |
| 1 | g.94062605T>A | CA341279273 | ABCA4 | c.1909A>T (p.Met637Leu) c.-65+569A>T (n.-65+569A>T) | |
| 1 | g.94062605T>C | CA341279274 | ABCA4 | c.1909A>G (p.Met637Val) c.-65+569A>G (n.-65+569A>G) | dbSNP |
| 1 | g.94062605T>G | CA341279275 | ABCA4 | c.1909A>C (p.Met637Leu) c.-65+569A>C (n.-65+569A>C) | |
| 1 | g.94062605T= | CA1181418808 | ABCA4 | c.1909A= (p.Met637=) c.-65+569A= (n.-65+569A=) | |
| 1 | g.94062606C>A | CA226951 | ABCA4 | c.1908G>T (p.Gln636His) c.-65+568G>T (n.-65+568G>T) | ClinVar dbSNP |
| 1 | g.94062606C= | CA1140726059 | ABCA4 | c.1908G= (p.Gln636=) c.-65+568G= (n.-65+568G=) | |
| 1 | g.94062606C>G | CA341279276 | ABCA4 | c.1908G>C (p.Gln636His) c.-65+568G>C (n.-65+568G>C) | |
| 1 | g.94062606C>T | CA418822021 | ABCA4 | c.1908G>A (p.Gln636=) c.-65+568G>A (n.-65+568G>A) | |
| 1 | g.94062607T>A | CA341279279 | ABCA4 | c.1907A>T (p.Gln636Leu) c.-65+567A>T (n.-65+567A>T) | |
| 1 | g.94062607T>C | CA341279278 | ABCA4 | c.1907A>G (p.Gln636Arg) c.-65+567A>G (n.-65+567A>G) | |
| 1 | g.94062607T>G | CA341279277 | ABCA4 | c.1907A>C (p.Gln636Pro) c.-65+567A>C (n.-65+567A>C) | |
| 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) | |
| 1 | g.94062621del | CA226947 | ABCA4 | c.1894del (p.Ile632SerfsTer17) c.-65+554del (n.-65+554del) | ClinVar dbSNP |
| 1 | g.94062621T>A | CA418822042 | ABCA4 | c.1893A>T (p.Gly631=) c.-65+553A>T (n.-65+553A>T) | |
| 1 | g.94062621T>C | CA418822043 | ABCA4 | c.1893A>G (p.Gly631=) c.-65+553A>G (n.-65+553A>G) | |
| 1 | g.94062621T>G | CA418822044 | ABCA4 | c.1893A>C (p.Gly631=) c.-65+553A>C (n.-65+553A>C) | |
| 1 | g.94062622C>A | CA341279310 | ABCA4 | c.1892G>T (p.Gly631Val) c.-65+552G>T (n.-65+552G>T) | ClinVar dbSNP gnomAD v2 |
| 1 | g.94062622C= | CA1181418814 | ABCA4 | c.1892G= (p.Gly631=) c.-65+552G= (n.-65+552G=) | |
| 1 | g.94062622C>G | CA341279308 | ABCA4 | c.1892G>C (p.Gly631Ala) c.-65+552G>C (n.-65+552G>C) | |
| 1 | g.94062622C>T | CA341279309 | ABCA4 | c.1892G>A (p.Gly631Glu) c.-65+552G>A (n.-65+552G>A) | ClinVar gnomAD v4 |
| 1 | g.94062623C>A | CA341279311 | ABCA4 | c.1891G>T (p.Gly631Ter) c.-65+551G>T (n.-65+551G>T) | |
| 1 | g.94062623C= | CA1181418815 | ABCA4 | c.1891G= (p.Gly631=) c.-65+551G= (n.-65+551G=) | |
| 1 | g.94062623C>G | CA341279312 | ABCA4 | c.1891G>C (p.Gly631Arg) c.-65+551G>C (n.-65+551G>C) | |
| 1 | g.94062623C>T | CA10602445 | ABCA4 | c.1891G>A (p.Gly631Arg) c.-65+551G>A (n.-65+551G>A) | ClinVar dbSNP |
| 1 | g.94062624A>C | CA418822046 | ABCA4 | c.1890T>G (p.Val630=) c.-65+550T>G (n.-65+550T>G) | |
| 1 | g.94062624A>G | CA418822048 | ABCA4 | c.1890T>C (p.Val630=) c.-65+550T>C (n.-65+550T>C) | |
| 1 | g.94062624A>T | CA418822050 | ABCA4 | c.1890T>A (p.Val630=) c.-65+550T>A (n.-65+550T>A) | |
| 1 | g.94062625A>C | CA341279313 | ABCA4 | c.1889T>G (p.Val630Gly) c.-65+549T>G (n.-65+549T>G) | |
| 1 | g.94062625A>G | CA341279314 | ABCA4 | c.1889T>C (p.Val630Ala) c.-65+549T>C (n.-65+549T>C) | |
| 1 | g.94062625A>T | CA341279315 | ABCA4 | c.1889T>A (p.Val630Asp) c.-65+549T>A (n.-65+549T>A) | gnomAD v4 |
| 1 | g.94062626del | CA2739272683 | ABCA4 | c.1888del (p.Val630LeufsTer19) c.-65+548del (n.-65+548del) | ClinVar |
| 1 | g.94062626C>A | CA341279316 | ABCA4 | c.1888G>T (p.Val630Phe) c.-65+548G>T (n.-65+548G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062626C= | CA1181418816 | ABCA4 | c.1888G= (p.Val630=) c.-65+548G= (n.-65+548G=) | |
| 1 | g.94062626C>G | CA341279317 | ABCA4 | c.1888G>C (p.Val630Leu) c.-65+548G>C (n.-65+548G>C) | |
| 1 | g.94062626C>T | CA341279318 | ABCA4 | c.1888G>A (p.Val630Ile) c.-65+548G>A (n.-65+548G>A) | |
| 1 | g.94062627T>A | CA418822052 | ABCA4 | c.1887A>T (p.Pro629=) c.-65+547A>T (n.-65+547A>T) | gnomAD v4 |
| 1 | g.94062627T>C | CA418822053 | ABCA4 | c.1887A>G (p.Pro629=) c.-65+547A>G (n.-65+547A>G) | gnomAD v4 |
| 1 | g.94062627T>G | CA418822054 | ABCA4 | c.1887A>C (p.Pro629=) c.-65+547A>C (n.-65+547A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062627T= | CA1181418817 | ABCA4 | c.1887A= (p.Pro629=) c.-65+547A= (n.-65+547A=) | |
| 1 | g.94062628G>A | CA958403 | ABCA4 | c.1886C>T (p.Pro629Leu) c.-65+546C>T (n.-65+546C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062628G>C | CA341279319 | ABCA4 | c.1886C>G (p.Pro629Arg) c.-65+546C>G (n.-65+546C>G) | |
| 1 | g.94062628G= | CA1181418818 | ABCA4 | c.1886C= (p.Pro629=) c.-65+546C= (n.-65+546C=) | |
| 1 | g.94062628G>T | CA341279320 | ABCA4 | c.1886C>A (p.Pro629Gln) c.-65+546C>A (n.-65+546C>A) | |
| 1 | g.94062629G>A | CA341279321 | ABCA4 | c.1885C>T (p.Pro629Ser) c.-65+545C>T (n.-65+545C>T) | |
| 1 | g.94062629G>C | CA341279323 | ABCA4 | c.1885C>G (p.Pro629Ala) c.-65+545C>G (n.-65+545C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062629G= | CA1181418819 | ABCA4 | c.1885C= (p.Pro629=) c.-65+545C= (n.-65+545C=) | |
| 1 | g.94062629G>T | CA341279322 | ABCA4 | c.1885C>A (p.Pro629Thr) c.-65+545C>A (n.-65+545C>A) | |
| 1 | g.94062630A>C | CA418822058 | ABCA4 | c.1884T>G (p.Ala628=) c.-65+544T>G (n.-65+544T>G) | |
| 1 | g.94062630A>G | CA418822059 | ABCA4 | c.1884T>C (p.Ala628=) c.-65+544T>C (n.-65+544T>C) | |
| 1 | g.94062630A>T | CA418822060 | ABCA4 | c.1884T>A (p.Ala628=) c.-65+544T>A (n.-65+544T>A) | COSMIC COSMIC |
| 1 | g.94062631G>A | CA26848044 | ABCA4 | c.1883C>T (p.Ala628Val) c.-65+543C>T (n.-65+543C>T) | dbSNP gnomAD v4 |
| 1 | g.94062631G>C | CA341279324 | ABCA4 | c.1883C>G (p.Ala628Gly) c.-65+543C>G (n.-65+543C>G) | |
| 1 | g.94062631G= | CA1181418820 | ABCA4 | c.1883C= (p.Ala628=) c.-65+543C= (n.-65+543C=) | |
| 1 | g.94062631G>T | CA341279325 | ABCA4 | c.1883C>A (p.Ala628Asp) c.-65+543C>A (n.-65+543C>A) | |
| 1 | g.94062632C>A | CA341279326 | ABCA4 | c.1882G>T (p.Ala628Ser) c.-65+542G>T (n.-65+542G>T) | |
| 1 | g.94062632C= | CA1181418821 | ABCA4 | c.1882G= (p.Ala628=) c.-65+542G= (n.-65+542G=) | |
| 1 | g.94062632C>G | CA341279327 | ABCA4 | c.1882G>C (p.Ala628Pro) c.-65+542G>C (n.-65+542G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062632C>T | CA958404 | ABCA4 | c.1882G>A (p.Ala628Thr) c.-65+542G>A (n.-65+542G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062633C>A | CA341279330 | ABCA4 | c.1881G>T (p.Glu627Asp) c.-65+541G>T (n.-65+541G>T) | |
| 1 | g.94062633C= | CA1181418822 | ABCA4 | c.1881G= (p.Glu627=) c.-65+541G= (n.-65+541G=) | |
| 1 | g.94062633C>G | CA341279332 | ABCA4 | c.1881G>C (p.Glu627Asp) c.-65+541G>C (n.-65+541G>C) | |
| 1 | g.94062633C>T | CA418822062 | ABCA4 | c.1881G>A (p.Glu627=) c.-65+541G>A (n.-65+541G>A) | dbSNP gnomAD v4 |
| 1 | g.94062634T>A | CA341279333 | ABCA4 | c.1880A>T (p.Glu627Val) c.-65+540A>T (n.-65+540A>T) | |
| 1 | g.94062634T>C | CA341279335 | ABCA4 | c.1880A>G (p.Glu627Gly) c.-65+540A>G (n.-65+540A>G) | |
| 1 | g.94062634T>G | CA341279337 | ABCA4 | c.1880A>C (p.Glu627Ala) c.-65+540A>C (n.-65+540A>C) | |
| 1 | g.94062635C>A | CA341279343 | ABCA4 | c.1879G>T (p.Glu627Ter) c.-65+539G>T (n.-65+539G>T) | |
| 1 | g.94062635C>G | CA341279341 | ABCA4 | c.1879G>C (p.Glu627Gln) c.-65+539G>C (n.-65+539G>C) | |
| 1 | g.94062635C>T | CA341279339 | ABCA4 | c.1879G>A (p.Glu627Lys) c.-65+539G>A (n.-65+539G>A) | |
| 1 | g.94062636C>A | CA418822069 | ABCA4 | c.1878G>T (p.Ala626=) c.-65+538G>T (n.-65+538G>T) | |
| 1 | g.94062636C= | CA1140726070 | ABCA4 | c.1878G= (p.Ala626=) c.-65+538G= (n.-65+538G=) | |
| 1 | g.94062636C>G | CA418822067 | ABCA4 | c.1878G>C (p.Ala626=) c.-65+538G>C (n.-65+538G>C) | dbSNP |
| 1 | g.94062636C>T | CA226945 | ABCA4 | c.1878G>A (p.Ala626=) c.-65+538G>A (n.-65+538G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062637G>A | CA958405 | ABCA4 | c.1877C>T (p.Ala626Val) c.-65+537C>T (n.-65+537C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94062637G>C | CA341279347 | ABCA4 | c.1877C>G (p.Ala626Gly) c.-65+537C>G (n.-65+537C>G) | |
| 1 | g.94062637G= | CA1181418823 | ABCA4 | c.1877C= (p.Ala626=) c.-65+537C= (n.-65+537C=) | |
| 1 | g.94062637G>T | CA341279349 | ABCA4 | c.1877C>A (p.Ala626Glu) c.-65+537C>A (n.-65+537C>A) | gnomAD v4 COSMIC COSMIC |
| 1 | g.94062638C>A | CA341279351 | ABCA4 | c.1876G>T (p.Ala626Ser) c.-65+536G>T (n.-65+536G>T) | |
| 1 | g.94062638C= | CA1181418824 | ABCA4 | c.1876G= (p.Ala626=) c.-65+536G= (n.-65+536G=) | |
| 1 | g.94062638C>G | CA341279353 | ABCA4 | c.1876G>C (p.Ala626Pro) c.-65+536G>C (n.-65+536G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062638C>T | CA341279355 | ABCA4 | c.1876G>A (p.Ala626Thr) c.-65+536G>A (n.-65+536G>A) | gnomAD v4 |
| 1 | g.94062639C>A | CA341279357 | ABCA4 | c.1875G>T (p.Gln625His) c.-65+535G>T (n.-65+535G>T) | |
| 1 | g.94062639C>G | CA341279359 | ABCA4 | c.1875G>C (p.Gln625His) c.-65+535G>C (n.-65+535G>C) | |
| 1 | g.94062639C>T | CA418822072 | ABCA4 | c.1875G>A (p.Gln625=) c.-65+535G>A (n.-65+535G>A) | |
| 1 | g.94062640T>A | CA341279362 | ABCA4 | c.1874A>T (p.Gln625Leu) c.-65+534A>T (n.-65+534A>T) | |
| 1 | g.94062640T>C | CA341279363 | ABCA4 | c.1874A>G (p.Gln625Arg) c.-65+534A>G (n.-65+534A>G) | |
| 1 | g.94062640T>G | CA341279364 | ABCA4 | c.1874A>C (p.Gln625Pro) c.-65+534A>C (n.-65+534A>C) | |
| 1 | g.94062641G>A | CA10581652 | ABCA4 | c.1873C>T (p.Gln625Ter) c.-65+533C>T (n.-65+533C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062641G>C | CA341279369 | ABCA4 | c.1873C>G (p.Gln625Glu) c.-65+533C>G (n.-65+533C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062641G= | CA1181418825 | ABCA4 | c.1873C= (p.Gln625=) c.-65+533C= (n.-65+533C=) | |
| 1 | g.94062641G>T | CA341279367 | ABCA4 | c.1873C>A (p.Gln625Lys) c.-65+533C>A (n.-65+533C>A) | gnomAD v4 |
| 1 | g.94062642C>A | CA418822077 | ABCA4 | c.1872G>T (p.Val624=) c.-65+532G>T (n.-65+532G>T) | |
| 1 | g.94062642C= | CA1181418826 | ABCA4 | c.1872G= (p.Val624=) c.-65+532G= (n.-65+532G=) | |
| 1 | g.94062642C>G | CA418822080 | ABCA4 | c.1872G>C (p.Val624=) c.-65+532G>C (n.-65+532G>C) | |
| 1 | g.94062642C>T | CA418822079 | ABCA4 | c.1872G>A (p.Val624=) c.-65+532G>A (n.-65+532G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062643A= | CA1181418827 | ABCA4 | c.1871T= (p.Val624=) c.-65+531T= (n.-65+531T=) | |
| 1 | g.94062643A>C | CA341279372 | ABCA4 | c.1871T>G (p.Val624Gly) c.-65+531T>G (n.-65+531T>G) | dbSNP |
| 1 | g.94062643A>G | CA341279374 | ABCA4 | c.1871T>C (p.Val624Ala) c.-65+531T>C (n.-65+531T>C) | |
| 1 | g.94062643A>T | CA341279373 | ABCA4 | c.1871T>A (p.Val624Glu) c.-65+531T>A (n.-65+531T>A) | |
| 1 | g.94062644C>A | CA341279377 | ABCA4 | c.1870G>T (p.Val624Leu) c.-65+530G>T (n.-65+530G>T) | |
| 1 | g.94062644C>G | CA341279379 | ABCA4 | c.1870G>C (p.Val624Leu) c.-65+530G>C (n.-65+530G>C) | |
| 1 | g.94062644C>T | CA341279381 | ABCA4 | c.1870G>A (p.Val624Met) c.-65+530G>A (n.-65+530G>A) | |
| 1 | g.94062645C>A | CA341279383 | ABCA4 | c.1869G>T (p.Gln623His) c.-65+529G>T (n.-65+529G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062645C= | CA1181418828 | ABCA4 | c.1869G= (p.Gln623=) c.-65+529G= (n.-65+529G=) | |
| 1 | g.94062645C>G | CA341279385 | ABCA4 | c.1869G>C (p.Gln623His) c.-65+529G>C (n.-65+529G>C) | |
| 1 | g.94062645C>T | CA418822084 | ABCA4 | c.1869G>A (p.Gln623=) c.-65+529G>A (n.-65+529G>A) | |
| 1 | g.94062646T>A | CA341279387 | ABCA4 | c.1868A>T (p.Gln623Leu) c.-65+528A>T (n.-65+528A>T) | |
| 1 | g.94062646T>C | CA341279389 | ABCA4 | c.1868A>G (p.Gln623Arg) c.-65+528A>G (n.-65+528A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062646T>G | CA341279391 | ABCA4 | c.1868A>C (p.Gln623Pro) c.-65+528A>C (n.-65+528A>C) | |
| 1 | g.94062646T= | CA1181418829 | ABCA4 | c.1868A= (p.Gln623=) c.-65+528A= (n.-65+528A=) | |
| 1 | g.94062647G>A | CA341279393 | ABCA4 | c.1867C>T (p.Gln623Ter) c.-65+527C>T (n.-65+527C>T) | |
| 1 | g.94062647G>C | CA341279395 | ABCA4 | c.1867C>G (p.Gln623Glu) c.-65+527C>G (n.-65+527C>G) | dbSNP gnomAD v4 |
| 1 | g.94062647G= | CA1181418830 | ABCA4 | c.1867C= (p.Gln623=) c.-65+527C= (n.-65+527C=) | |
| 1 | g.94062647G>T | CA341279396 | ABCA4 | c.1867C>A (p.Gln623Lys) c.-65+527C>A (n.-65+527C>A) | |
| 1 | g.94062648G>A | CA418822092 | ABCA4 | c.1866C>T (p.Ser622=) c.-65+526C>T (n.-65+526C>T) | |
| 1 | g.94062648G>C | CA341279397 | ABCA4 | c.1866C>G (p.Ser622Arg) c.-65+526C>G (n.-65+526C>G) | |
| 1 | g.94062648G>T | CA341279398 | ABCA4 | c.1866C>A (p.Ser622Arg) c.-65+526C>A (n.-65+526C>A) | |
| 1 | g.94062649del | CA645372171 | ABCA4 | c.1865del (p.Ser622ThrfsTer27) c.-65+525del (n.-65+525del) | |
| 1 | g.94062649C>A | CA341279401 | ABCA4 | c.1865G>T (p.Ser622Ile) c.-65+525G>T (n.-65+525G>T) | ClinVar dbSNP |
| 1 | g.94062649C= | CA1181418831 | ABCA4 | c.1865G= (p.Ser622=) c.-65+525G= (n.-65+525G=) | |
| 1 | g.94062649C>G | CA341279405 | ABCA4 | c.1865G>C (p.Ser622Thr) c.-65+525G>C (n.-65+525G>C) | dbSNP |
| 1 | g.94062649C>T | CA341279403 | ABCA4 | c.1865G>A (p.Ser622Asn) c.-65+525G>A (n.-65+525G>A) | gnomAD v4 |
| 1 | g.94062650T>A | CA341279407 | ABCA4 | c.1864A>T (p.Ser622Cys) c.-65+524A>T (n.-65+524A>T) | |
| 1 | g.94062650T>C | CA341279409 | ABCA4 | c.1864A>G (p.Ser622Gly) c.-65+524A>G (n.-65+524A>G) | gnomAD v4 |
| 1 | g.94062650T>G | CA341279411 | ABCA4 | c.1864A>C (p.Ser622Arg) c.-65+524A>C (n.-65+524A>C) | |
| 1 | g.94062651C>A | CA341279413 | ABCA4 | c.1863G>T (p.Arg621Ser) c.-65+523G>T (n.-65+523G>T) | |
| 1 | g.94062651C= | CA1181418832 | ABCA4 | c.1863G= (p.Arg621=) c.-65+523G= (n.-65+523G=) | |
| 1 | g.94062651C>G | CA341279415 | ABCA4 | c.1863G>C (p.Arg621Ser) c.-65+523G>C (n.-65+523G>C) | |
| 1 | g.94062651C>T | CA418822094 | ABCA4 | c.1863G>A (p.Arg621=) c.-65+523G>A (n.-65+523G>A) | dbSNP gnomAD v4 |
| 1 | g.94062652C>A | CA341279417 | ABCA4 | c.1862G>T (p.Arg621Met) c.-65+522G>T (n.-65+522G>T) | COSMIC COSMIC |
| 1 | g.94062652C= | CA1181418833 | ABCA4 | c.1862G= (p.Arg621=) c.-65+522G= (n.-65+522G=) | |
| 1 | g.94062652C>G | CA341279419 | ABCA4 | c.1862G>C (p.Arg621Thr) c.-65+522G>C (n.-65+522G>C) | ClinVar |
| 1 | g.94062652C>T | CA958406 | ABCA4 | c.1862G>A (p.Arg621Lys) c.-65+522G>A (n.-65+522G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062653T>A | CA341279422 | ABCA4 | c.1861A>T (p.Arg621Trp) c.-65+521A>T (n.-65+521A>T) | |
| 1 | g.94062653T>C | CA958407 | ABCA4 | c.1861A>G (p.Arg621Gly) c.-65+521A>G (n.-65+521A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062653T>G | CA418822096 | ABCA4 | c.1861A>C (p.Arg621=) c.-65+521A>C (n.-65+521A>C) | |
| 1 | g.94062653T= | CA1141785386 | ABCA4 | c.1861A= (p.Arg621=) c.-65+521A= (n.-65+521A=) | |
| 1 | g.94062653_94062663delinsTTGTGATCCCC | CA1181418834 | ABCA4 | c.1851_1861delinsGGGGATCACAA (p.Gln617=) c.-65+511_-65+521delinsGGGGATCACAA (n.-65+511_-65+521delinsGGGGATCACAA) | |
| 1 | g.94062654T>A | CA418822098 | ABCA4 | c.1860A>T (p.Thr620=) c.-65+520A>T (n.-65+520A>T) | |
| 1 | g.94062654T>C | CA418822099 | ABCA4 | c.1860A>G (p.Thr620=) c.-65+520A>G (n.-65+520A>G) | |
| 1 | g.94062654T>G | CA418822100 | ABCA4 | c.1860A>C (p.Thr620=) c.-65+520A>C (n.-65+520A>C) | |
| 1 | g.94062657_94062666del | CA916082070 | ABCA4 | c.1851_1860del (p.Ile619AlafsTer27) c.-65+511_-65+520del (n.-65+511_-65+520del) | ClinVar dbSNP |
| 1 | g.94062655G>A | CA958408 | ABCA4 | c.1859C>T (p.Thr620Ile) c.-65+519C>T (n.-65+519C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062655G>C | CA341279427 | ABCA4 | c.1859C>G (p.Thr620Arg) c.-65+519C>G (n.-65+519C>G) | |
| 1 | g.94062655G= | CA1181418835 | ABCA4 | c.1859C= (p.Thr620=) c.-65+519C= (n.-65+519C=) | |
| 1 | g.94062655G>T | CA341279425 | ABCA4 | c.1859C>A (p.Thr620Lys) c.-65+519C>A (n.-65+519C>A) | |
| 1 | g.94062656T>A | CA341279430 | ABCA4 | c.1858A>T (p.Thr620Ser) c.-65+518A>T (n.-65+518A>T) | |
| 1 | g.94062656T>C | CA341279432 | ABCA4 | c.1858A>G (p.Thr620Ala) c.-65+518A>G (n.-65+518A>G) | |
| 1 | g.94062656T>G | CA341279434 | ABCA4 | c.1858A>C (p.Thr620Pro) c.-65+518A>C (n.-65+518A>C) | |
| 1 | g.94062657G>A | CA418822104 | ABCA4 | c.1857C>T (p.Ile619=) c.-65+517C>T (n.-65+517C>T) | gnomAD v4 |
| 1 | g.94062657G>C | CA341279436 | ABCA4 | c.1857C>G (p.Ile619Met) c.-65+517C>G (n.-65+517C>G) | |
| 1 | g.94062657G>T | CA418822106 | ABCA4 | c.1857C>A (p.Ile619=) c.-65+517C>A (n.-65+517C>A) | |
| 1 | g.94062658A>C | CA341279438 | ABCA4 | c.1856T>G (p.Ile619Ser) c.-65+516T>G (n.-65+516T>G) | |
| 1 | g.94062658A>G | CA341279440 | ABCA4 | c.1856T>C (p.Ile619Thr) c.-65+516T>C (n.-65+516T>C) | |
| 1 | g.94062658A>T | CA341279442 | ABCA4 | c.1856T>A (p.Ile619Asn) c.-65+516T>A (n.-65+516T>A) | gnomAD v4 |
| 1 | g.94062659T>A | CA341279443 | ABCA4 | c.1855A>T (p.Ile619Phe) c.-65+515A>T (n.-65+515A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062659T>C | CA341279445 | ABCA4 | c.1855A>G (p.Ile619Val) c.-65+515A>G (n.-65+515A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062659T>G | CA341279447 | ABCA4 | c.1855A>C (p.Ile619Leu) c.-65+515A>C (n.-65+515A>C) | |
| 1 | g.94062659T= | CA1181418836 | ABCA4 | c.1855A= (p.Ile619=) c.-65+515A= (n.-65+515A=) | |
| 1 | g.94062660C>A | CA418822109 | ABCA4 | c.1854G>T (p.Gly618=) c.-65+514G>T (n.-65+514G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062660C= | CA1181418837 | ABCA4 | c.1854G= (p.Gly618=) c.-65+514G= (n.-65+514G=) | |
| 1 | g.94062660C>G | CA418822110 | ABCA4 | c.1854G>C (p.Gly618=) c.-65+514G>C (n.-65+514G>C) | |
| 1 | g.94062660C>T | CA418822111 | ABCA4 | c.1854G>A (p.Gly618=) c.-65+514G>A (n.-65+514G>A) | ClinVar gnomAD v4 |
| 1 | g.94062661C>A | CA341279449 | ABCA4 | c.1853G>T (p.Gly618Val) c.-65+513G>T (n.-65+513G>T) | |
| 1 | g.94062661C= | CA1140726074 | ABCA4 | c.1853G= (p.Gly618=) c.-65+513G= (n.-65+513G=) | |
| 1 | g.94062661C>G | CA341279451 | ABCA4 | c.1853G>C (p.Gly618Ala) c.-65+513G>C (n.-65+513G>C) | dbSNP gnomAD v4 |
| 1 | g.94062661C>T | CA226943 | ABCA4 | c.1853G>A (p.Gly618Glu) c.-65+513G>A (n.-65+513G>A) | ClinVar dbSNP |
| 1 | g.94062662C>A | CA341279456 | ABCA4 | c.1852G>T (p.Gly618Trp) c.-65+512G>T (n.-65+512G>T) | |
| 1 | g.94062662C= | CA1181418838 | ABCA4 | c.1852G= (p.Gly618=) c.-65+512G= (n.-65+512G=) | |
| 1 | g.94062662C>G | CA341279452 | ABCA4 | c.1852G>C (p.Gly618Arg) c.-65+512G>C (n.-65+512G>C) | |
| 1 | g.94062662C>T | CA341279454 | ABCA4 | c.1852G>A (p.Gly618Arg) c.-65+512G>A (n.-65+512G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062663C>A | CA341279457 | ABCA4 | c.1851G>T (p.Gln617His) c.-65+511G>T (n.-65+511G>T) | |
| 1 | g.94062663C= | CA1148243415 | ABCA4 | c.1851G= (p.Gln617=) c.-65+511G= (n.-65+511G=) | |
| 1 | g.94062663C>G | CA958409 | ABCA4 | c.1851G>C (p.Gln617His) c.-65+511G>C (n.-65+511G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062663C>T | CA418822112 | ABCA4 | c.1851G>A (p.Gln617=) c.-65+511G>A (n.-65+511G>A) | gnomAD v2 gnomAD v4 |
| 1 | g.94062664T>A | CA341279460 | ABCA4 | c.1850A>T (p.Gln617Leu) c.-65+510A>T (n.-65+510A>T) | |
| 1 | g.94062664T>C | CA958410 | ABCA4 | c.1850A>G (p.Gln617Arg) c.-65+510A>G (n.-65+510A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062664T>G | CA341279463 | ABCA4 | c.1850A>C (p.Gln617Pro) c.-65+510A>C (n.-65+510A>C) | ClinVar |
| 1 | g.94062664T= | CA1181418839 | ABCA4 | c.1850A= (p.Gln617=) c.-65+510A= (n.-65+510A=) | |
| 1 | g.94062665G>A | CA341279465 | ABCA4 | c.1849C>T (p.Gln617Ter) c.-65+509C>T (n.-65+509C>T) | |
| 1 | g.94062665G>C | CA341279467 | ABCA4 | c.1849C>G (p.Gln617Glu) c.-65+509C>G (n.-65+509C>G) | dbSNP gnomAD v4 |
| 1 | g.94062665G= | CA1181418841 | ABCA4 | c.1849C= (p.Gln617=) c.-65+509C= (n.-65+509C=) | |
| 1 | g.94062665G>T | CA341279468 | ABCA4 | c.1849C>A (p.Gln617Lys) c.-65+509C>A (n.-65+509C>A) | |
| 1 | g.94062665_94062666delinsGT | CA1181418840 | ABCA4 | c.1848_1849delinsAC (p.Glu616=) c.-65+508_-65+509delinsAC (n.-65+508_-65+509delinsAC) | |
| 1 | g.94062666T>A | CA341279470 | ABCA4 | c.1848A>T (p.Glu616Asp) c.-65+508A>T (n.-65+508A>T) | |
| 1 | g.94062666T>C | CA418822116 | ABCA4 | c.1848A>G (p.Glu616=) c.-65+508A>G (n.-65+508A>G) | |
| 1 | g.94062666T>G | CA341279472 | ABCA4 | c.1848A>C (p.Glu616Asp) c.-65+508A>C (n.-65+508A>C) | |
| 1 | g.94062666_94062667delinsTT | CA1140726077 | ABCA4 | c.1847_1848delinsAA (p.Glu616=) c.-65+507_-65+508delinsAA (n.-65+507_-65+508delinsAA) | |
| 1 | g.94062667del | CA226942 | ABCA4 | c.1848del (p.Glu616AspfsTer?) c.-65+508del (n.-65+508del) | ClinVar dbSNP |
| 1 | g.94062667T>A | CA341279480 | ABCA4 | c.1847A>T (p.Glu616Val) c.-65+507A>T (n.-65+507A>T) | |
| 1 | g.94062667T>C | CA341279478 | ABCA4 | c.1847A>G (p.Glu616Gly) c.-65+507A>G (n.-65+507A>G) | |
| 1 | g.94062667T>G | CA341279477 | ABCA4 | c.1847A>C (p.Glu616Ala) c.-65+507A>C (n.-65+507A>C) | |
| 1 | g.94062668C>A | CA341279482 | ABCA4 | c.1846G>T (p.Glu616Ter) c.-65+506G>T (n.-65+506G>T) | |
| 1 | g.94062668C= | CA1181418842 | ABCA4 | c.1846G= (p.Glu616=) c.-65+506G= (n.-65+506G=) | |
| 1 | g.94062668C>G | CA341279486 | ABCA4 | c.1846G>C (p.Glu616Gln) c.-65+506G>C (n.-65+506G>C) | |
| 1 | g.94062668C>T | CA341279484 | ABCA4 | c.1846G>A (p.Glu616Lys) c.-65+506G>A (n.-65+506G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062669A>C | CA418822120 | ABCA4 | c.1845T>G (p.Val615=) c.-65+505T>G (n.-65+505T>G) | |
| 1 | g.94062669A>G | CA418822123 | ABCA4 | c.1845T>C (p.Val615=) c.-65+505T>C (n.-65+505T>C) | |
| 1 | g.94062669A>T | CA418822121 | ABCA4 | c.1845T>A (p.Val615=) c.-65+505T>A (n.-65+505T>A) | |
| 1 | g.94062670A>C | CA341279489 | ABCA4 | c.1844T>G (p.Val615Gly) c.-65+504T>G (n.-65+504T>G) | |
| 1 | g.94062670A>G | CA341279492 | ABCA4 | c.1844T>C (p.Val615Ala) c.-65+504T>C (n.-65+504T>C) | ClinVar dbSNP |
| 1 | g.94062670A>T | CA341279490 | ABCA4 | c.1844T>A (p.Val615Asp) c.-65+504T>A (n.-65+504T>A) | |
| 1 | g.94062671C>A | CA958411 | ABCA4 | c.1843G>T (p.Val615Phe) c.-65+503G>T (n.-65+503G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062671C= | CA1144027188 | ABCA4 | c.1843G= (p.Val615=) c.-65+503G= (n.-65+503G=) | |
| 1 | g.94062671C>G | CA26848136 | ABCA4 | c.1843G>C (p.Val615Leu) c.-65+503G>C (n.-65+503G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062671C>T | CA341279496 | ABCA4 | c.1843G>A (p.Val615Ile) c.-65+503G>A (n.-65+503G>A) | dbSNP gnomAD v2 |
| 1 | g.94062672C>A | CA341279498 | ABCA4 | c.1842G>T (p.Met614Ile) c.-65+502G>T (n.-65+502G>T) | |
| 1 | g.94062672C>G | CA341279500 | ABCA4 | c.1842G>C (p.Met614Ile) c.-65+502G>C (n.-65+502G>C) | |
| 1 | g.94062672C>T | CA341279502 | ABCA4 | c.1842G>A (p.Met614Ile) c.-65+502G>A (n.-65+502G>A) | |
| 1 | g.94062673A>C | CA341279503 | ABCA4 | c.1841T>G (p.Met614Arg) c.-65+501T>G (n.-65+501T>G) | |
| 1 | g.94062673A>G | CA341279505 | ABCA4 | c.1841T>C (p.Met614Thr) c.-65+501T>C (n.-65+501T>C) | |
| 1 | g.94062673A>T | CA341279507 | ABCA4 | c.1841T>A (p.Met614Lys) c.-65+501T>A (n.-65+501T>A) | |
| 1 | g.94062674T>A | CA341279509 | ABCA4 | c.1840A>T (p.Met614Leu) c.-65+500A>T (n.-65+500A>T) | gnomAD v4 |
| 1 | g.94062674T>C | CA958413 | ABCA4 | c.1840A>G (p.Met614Val) c.-65+500A>G (n.-65+500A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062674T>G | CA958412 | ABCA4 | c.1840A>C (p.Met614Leu) c.-65+500A>C (n.-65+500A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062674T= | CA1149061697 | ABCA4 | c.1840A= (p.Met614=) c.-65+500A= (n.-65+500A=) | |
| 1 | g.94062675G>A | CA418822130 | ABCA4 | c.1839C>T (p.Asp613=) c.-65+499C>T (n.-65+499C>T) | |
| 1 | g.94062675G>C | CA341279515 | ABCA4 | c.1839C>G (p.Asp613Glu) c.-65+499C>G (n.-65+499C>G) | |
| 1 | g.94062675G>T | CA341279513 | ABCA4 | c.1839C>A (p.Asp613Glu) c.-65+499C>A (n.-65+499C>A) | |
| 1 | g.94062676T>A | CA341279518 | ABCA4 | c.1838A>T (p.Asp613Val) c.-65+498A>T (n.-65+498A>T) | ClinVar dbSNP |
| 1 | g.94062676T>C | CA341279519 | ABCA4 | c.1838A>G (p.Asp613Gly) c.-65+498A>G (n.-65+498A>G) | gnomAD v4 |
| 1 | g.94062676T>G | CA341279521 | ABCA4 | c.1838A>C (p.Asp613Ala) c.-65+498A>C (n.-65+498A>C) | |
| 1 | g.94062677C>A | CA341279523 | ABCA4 | c.1837G>T (p.Asp613Tyr) c.-65+497G>T (n.-65+497G>T) | |
| 1 | g.94062677C= | CA1181418843 | ABCA4 | c.1837G= (p.Asp613=) c.-65+497G= (n.-65+497G=) | |
| 1 | g.94062677C>G | CA341279524 | ABCA4 | c.1837G>C (p.Asp613His) c.-65+497G>C (n.-65+497G>C) | |
| 1 | g.94062677C>T | CA341279525 | ABCA4 | c.1837G>A (p.Asp613Asn) c.-65+497G>A (n.-65+497G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062678C>A | CA341279528 | ABCA4 | c.1836G>T (p.Gln612His) c.-65+496G>T (n.-65+496G>T) | |
| 1 | g.94062678C>G | CA341279529 | ABCA4 | c.1836G>C (p.Gln612His) c.-65+496G>C (n.-65+496G>C) | |
| 1 | g.94062678C>T | CA418822136 | ABCA4 | c.1836G>A (p.Gln612=) c.-65+496G>A (n.-65+496G>A) | |
| 1 | g.94062679del | CA2586966940 | ABCA4 | c.1835del (p.Gln612ArgfsTer?) c.-65+495del (n.-65+495del) | |
| 1 | g.94062679T>A | CA341279531 | ABCA4 | c.1835A>T (p.Gln612Leu) c.-65+495A>T (n.-65+495A>T) | |
| 1 | g.94062679T>C | CA341279533 | ABCA4 | c.1835A>G (p.Gln612Arg) c.-65+495A>G (n.-65+495A>G) | |
| 1 | g.94062679T>G | CA341279535 | ABCA4 | c.1835A>C (p.Gln612Pro) c.-65+495A>C (n.-65+495A>C) | |
| 1 | g.94062680G>A | CA16042375 | ABCA4 | c.1834C>T (p.Gln612Ter) c.-65+494C>T (n.-65+494C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062680G>C | CA341279538 | ABCA4 | c.1834C>G (p.Gln612Glu) c.-65+494C>G (n.-65+494C>G) | |
| 1 | g.94062680G= | CA1181418844 | ABCA4 | c.1834C= (p.Gln612=) c.-65+494C= (n.-65+494C=) | |
| 1 | g.94062680G>T | CA341279536 | ABCA4 | c.1834C>A (p.Gln612Lys) c.-65+494C>A (n.-65+494C>A) | |
| 1 | g.94062681C>A | CA958414 | ABCA4 | c.1833G>T (p.Leu611=) c.-65+493G>T (n.-65+493G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062681C= | CA1181418845 | ABCA4 | c.1833G= (p.Leu611=) c.-65+493G= (n.-65+493G=) | |
| 1 | g.94062681C>G | CA418822138 | ABCA4 | c.1833G>C (p.Leu611=) c.-65+493G>C (n.-65+493G>C) | |
| 1 | g.94062681C>T | CA418822140 | ABCA4 | c.1833G>A (p.Leu611=) c.-65+493G>A (n.-65+493G>A) | dbSNP gnomAD v2 |
| 1 | g.94062683_94062721del | CA2573051633 | ABCA4 | c.1795_1833del (p.Glu599_Leu611del) c.-65+455_-65+493del (n.-65+455_-65+493del) | ClinVar dbSNP |