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.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) |