Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.94062682A= | CA1181418846 | ABCA4 | c.1832T= (p.Leu611=) c.-65+492T= (n.-65+492T=) | |
1 | g.94062682A>C | CA341279541 | ABCA4 | c.1832T>G (p.Leu611Arg) c.-65+492T>G (n.-65+492T>G) | |
1 | g.94062682A>G | CA958415 | ABCA4 | c.1832T>C (p.Leu611Pro) c.-65+492T>C (n.-65+492T>C) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.94062682A>T | CA341279544 | ABCA4 | c.1832T>A (p.Leu611Gln) c.-65+492T>A (n.-65+492T>A) | |
1 | g.94062683G>A | CA418822141 | ABCA4 | c.1831C>T (p.Leu611=) c.-65+491C>T (n.-65+491C>T) | |
1 | g.94062683G>C | CA341279546 | ABCA4 | c.1831C>G (p.Leu611Val) c.-65+491C>G (n.-65+491C>G) | |
1 | g.94062683G>T | CA341279547 | ABCA4 | c.1831C>A (p.Leu611Met) c.-65+491C>A (n.-65+491C>A) | |
1 | g.94062684A= | CA1181418847 | ABCA4 | c.1830T= (p.Tyr610=) c.-65+490T= (n.-65+490T=) | |
1 | g.94062684A>C | CA341279549 | ABCA4 | c.1830T>G (p.Tyr610Ter) c.-65+490T>G (n.-65+490T>G) | |
1 | g.94062684A>G | CA418822142 | ABCA4 | c.1830T>C (p.Tyr610=) c.-65+490T>C (n.-65+490T>C) | |
1 | g.94062684A>T | CA958416 | ABCA4 | c.1830T>A (p.Tyr610Ter) c.-65+490T>A (n.-65+490T>A) | dbSNP ExAC gnomAD v2 |
1 | g.94062685T>A | CA341279551 | ABCA4 | c.1829A>T (p.Tyr610Phe) c.-65+489A>T (n.-65+489A>T) | |
1 | g.94062685T>C | CA341279553 | ABCA4 | c.1829A>G (p.Tyr610Cys) c.-65+489A>G (n.-65+489A>G) | |
1 | g.94062685T>G | CA341279555 | ABCA4 | c.1829A>C (p.Tyr610Ser) c.-65+489A>C (n.-65+489A>C) | |
1 | g.94062686A>C | CA341279557 | ABCA4 | c.1828T>G (p.Tyr610Asp) c.-65+488T>G (n.-65+488T>G) | |
1 | g.94062686A>G | CA341279559 | ABCA4 | c.1828T>C (p.Tyr610His) c.-65+488T>C (n.-65+488T>C) | |
1 | g.94062686A>T | CA341279561 | ABCA4 | c.1828T>A (p.Tyr610Asn) c.-65+488T>A (n.-65+488T>A) | |
1 | g.94062687G>A | CA418822144 | ABCA4 | c.1827C>T (p.Ala609=) c.-65+487C>T (n.-65+487C>T) | |
1 | g.94062687G>C | CA418822146 | ABCA4 | c.1827C>G (p.Ala609=) c.-65+487C>G (n.-65+487C>G) | |
1 | g.94062687G>T | CA418822147 | ABCA4 | c.1827C>A (p.Ala609=) c.-65+487C>A (n.-65+487C>A) | |
1 | g.94062688G>A | CA341279564 | ABCA4 | c.1826C>T (p.Ala609Val) c.-65+486C>T (n.-65+486C>T) | |
1 | g.94062688G>C | CA341279567 | ABCA4 | c.1826C>G (p.Ala609Gly) c.-65+486C>G (n.-65+486C>G) | |
1 | g.94062688G>T | CA341279565 | ABCA4 | c.1826C>A (p.Ala609Asp) c.-65+486C>A (n.-65+486C>A) | |
1 | g.94062689C>A | CA341279568 | ABCA4 | c.1825G>T (p.Ala609Ser) c.-65+485G>T (n.-65+485G>T) | gnomAD v4 |
1 | g.94062689C>G | CA341279570 | ABCA4 | c.1825G>C (p.Ala609Pro) c.-65+485G>C (n.-65+485G>C) | ClinVar dbSNP |
1 | g.94062689C>T | CA341279572 | ABCA4 | c.1825G>A (p.Ala609Thr) c.-65+485G>A (n.-65+485G>A) | gnomAD v4 |
1 | g.94062690A>C | CA341279574 | ABCA4 | c.1824T>G (p.Phe608Leu) c.-65+484T>G (n.-65+484T>G) | |
1 | g.94062690A>G | CA418822151 | ABCA4 | c.1824T>C (p.Phe608=) c.-65+484T>C (n.-65+484T>C) | COSMIC COSMIC |
1 | g.94062690A>T | CA341279576 | ABCA4 | c.1824T>A (p.Phe608Leu) c.-65+484T>A (n.-65+484T>A) | |
1 | g.94062691A= | CA1140726079 | ABCA4 | c.1823T= (p.Phe608=) c.-65+483T= (n.-65+483T=) | |
1 | g.94062691A>C | CA341279578 | ABCA4 | c.1823T>G (p.Phe608Cys) c.-65+483T>G (n.-65+483T>G) | |
1 | g.94062691A>G | CA341279580 | ABCA4 | c.1823T>C (p.Phe608Ser) c.-65+483T>C (n.-65+483T>C) | |
1 | g.94062691A>T | CA226940 | ABCA4 | c.1823T>A (p.Phe608Tyr) c.-65+483T>A (n.-65+483T>A) | ClinVar dbSNP |
1 | g.94062692A= | CA1140726083 | ABCA4 | c.1822T= (p.Phe608=) c.-65+482T= (n.-65+482T=) | |
1 | g.94062692A>C | CA341279583 | ABCA4 | c.1822T>G (p.Phe608Val) c.-65+482T>G (n.-65+482T>G) | dbSNP |
1 | g.94062692A>G | CA226938 | ABCA4 | c.1822T>C (p.Phe608Leu) c.-65+482T>C (n.-65+482T>C) | ClinVar dbSNP |
1 | g.94062692A>T | CA958417 | ABCA4 | c.1822T>A (p.Phe608Ile) c.-65+482T>A (n.-65+482T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94062693C>A | CA418822154 | ABCA4 | c.1821G>T (p.Gly607=) c.-65+481G>T (n.-65+481G>T) | |
1 | g.94062693C= | CA1143457611 | ABCA4 | c.1821G= (p.Gly607=) c.-65+481G= (n.-65+481G=) | |
1 | g.94062693C>G | CA418822155 | ABCA4 | c.1821G>C (p.Gly607=) c.-65+481G>C (n.-65+481G>C) | |
1 | g.94062693C>T | CA26848205 | ABCA4 | c.1821G>A (p.Gly607=) c.-65+481G>A (n.-65+481G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |