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.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 |
| 1 | g.94062694C>A | CA341279592 | ABCA4 | c.1820G>T (p.Gly607Val) c.-65+480G>T (n.-65+480G>T) | ClinVar gnomAD v4 |
| 1 | g.94062694C>G | CA341279589 | ABCA4 | c.1820G>C (p.Gly607Ala) c.-65+480G>C (n.-65+480G>C) | |
| 1 | g.94062694C>T | CA341279591 | ABCA4 | c.1820G>A (p.Gly607Glu) c.-65+480G>A (n.-65+480G>A) | |
| 1 | g.94062695C>A | CA226937 | ABCA4 | c.1819G>T (p.Gly607Trp) c.-65+479G>T (n.-65+479G>T) | ClinVar dbSNP |
| 1 | g.94062695C= | CA1140726089 | ABCA4 | c.1819G= (p.Gly607=) c.-65+479G= (n.-65+479G=) | |
| 1 | g.94062695C>G | CA341279593 | ABCA4 | c.1819G>C (p.Gly607Arg) c.-65+479G>C (n.-65+479G>C) | ClinVar dbSNP |
| 1 | g.94062695C>T | CA226936 | ABCA4 | c.1819G>A (p.Gly607Arg) c.-65+479G>A (n.-65+479G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062696G>A | CA958418 | ABCA4 | c.1818C>T (p.Gly606=) c.-65+478C>T (n.-65+478C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062696G>C | CA418822158 | ABCA4 | c.1818C>G (p.Gly606=) c.-65+478C>G (n.-65+478C>G) | |
| 1 | g.94062696G= | CA1144174338 | ABCA4 | c.1818C= (p.Gly606=) c.-65+478C= (n.-65+478C=) | |
| 1 | g.94062696G>T | CA418822159 | ABCA4 | c.1818C>A (p.Gly606=) c.-65+478C>A (n.-65+478C>A) | COSMIC COSMIC |
| 1 | g.94062697C>A | CA341279599 | ABCA4 | c.1817G>T (p.Gly606Val) c.-65+477G>T (n.-65+477G>T) | |
| 1 | g.94062697C= | CA1142209313 | ABCA4 | c.1817G= (p.Gly606=) c.-65+477G= (n.-65+477G=) | |
| 1 | g.94062697C>G | CA341279597 | ABCA4 | c.1817G>C (p.Gly606Ala) c.-65+477G>C (n.-65+477G>C) | |
| 1 | g.94062697C>T | CA958419 | ABCA4 | c.1817G>A (p.Gly606Asp) c.-65+477G>A (n.-65+477G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062698C>A | CA341279601 | ABCA4 | c.1816G>T (p.Gly606Cys) c.-65+476G>T (n.-65+476G>T) | |
| 1 | g.94062698C= | CA1181418848 | ABCA4 | c.1816G= (p.Gly606=) c.-65+476G= (n.-65+476G=) | |
| 1 | g.94062698C>G | CA341279603 | ABCA4 | c.1816G>C (p.Gly606Arg) c.-65+476G>C (n.-65+476G>C) | |
| 1 | g.94062698C>T | CA341279605 | ABCA4 | c.1816G>A (p.Gly606Ser) c.-65+476G>A (n.-65+476G>A) | dbSNP |
| 1 | g.94062699C>A | CA341279608 | ABCA4 | c.1815G>T (p.Trp605Cys) c.-65+475G>T (n.-65+475G>T) | |
| 1 | g.94062699C>G | CA341279609 | ABCA4 | c.1815G>C (p.Trp605Cys) c.-65+475G>C (n.-65+475G>C) | |
| 1 | g.94062699C>T | CA341279611 | ABCA4 | c.1815G>A (p.Trp605Ter) c.-65+475G>A (n.-65+475G>A) | |
| 1 | g.94062700C>A | CA341279613 | ABCA4 | c.1814G>T (p.Trp605Leu) c.-65+474G>T (n.-65+474G>T) | |
| 1 | g.94062700C>G | CA341279616 | ABCA4 | c.1814G>C (p.Trp605Ser) c.-65+474G>C (n.-65+474G>C) | |
| 1 | g.94062700C>T | CA341279614 | ABCA4 | c.1814G>A (p.Trp605Ter) c.-65+474G>A (n.-65+474G>A) | ClinVar dbSNP |
| 1 | g.94062700_94062701delinsCA | CA1181418849 | ABCA4 | c.1813_1814delinsTG (p.Trp605=) c.-65+473_-65+474delinsTG (n.-65+473_-65+474delinsTG) | |
| 1 | g.94062701del | CA1181418850 | ABCA4 | c.1813del (p.Trp605GlyfsTer?) c.-65+473del (n.-65+473del) | ClinVar dbSNP |
| 1 | g.94062701A>C | CA341279619 | ABCA4 | c.1813T>G (p.Trp605Gly) c.-65+473T>G (n.-65+473T>G) | |
| 1 | g.94062701A>G | CA341279621 | ABCA4 | c.1813T>C (p.Trp605Arg) c.-65+473T>C (n.-65+473T>C) | |
| 1 | g.94062701A>T | CA341279625 | ABCA4 | c.1813T>A (p.Trp605Arg) c.-65+473T>A (n.-65+473T>A) | |
| 1 | g.94062702G>A | CA418822164 | ABCA4 | c.1812C>T (p.Ile604=) c.-65+472C>T (n.-65+472C>T) | |
| 1 | g.94062702G>C | CA341279628 | ABCA4 | c.1812C>G (p.Ile604Met) c.-65+472C>G (n.-65+472C>G) | |
| 1 | g.94062702G>T | CA418822165 | ABCA4 | c.1812C>A (p.Ile604=) c.-65+472C>A (n.-65+472C>A) | gnomAD v4 |
| 1 | g.94062703A= | CA1140726093 | ABCA4 | c.1811T= (p.Ile604=) c.-65+471T= (n.-65+471T=) | |
| 1 | g.94062703A>C | CA226934 | ABCA4 | c.1811T>G (p.Ile604Ser) c.-65+471T>G (n.-65+471T>G) | ClinVar dbSNP |
| 1 | g.94062703A>G | CA341279631 | ABCA4 | c.1811T>C (p.Ile604Thr) c.-65+471T>C (n.-65+471T>C) | |
| 1 | g.94062703A>T | CA341279632 | ABCA4 | c.1811T>A (p.Ile604Asn) c.-65+471T>A (n.-65+471T>A) | |
| 1 | g.94062704T>A | CA341279634 | ABCA4 | c.1810A>T (p.Ile604Phe) c.-65+470A>T (n.-65+470A>T) | |
| 1 | g.94062704T>C | CA341279636 | ABCA4 | c.1810A>G (p.Ile604Val) c.-65+470A>G (n.-65+470A>G) | dbSNP gnomAD v4 |
| 1 | g.94062704T>G | CA341279637 | ABCA4 | c.1810A>C (p.Ile604Leu) c.-65+470A>C (n.-65+470A>C) | |
| 1 | g.94062704T= | CA1181418851 | ABCA4 | c.1810A= (p.Ile604=) c.-65+470A= (n.-65+470A=) | |
| 1 | g.94062705del | CA2697552526 | ABCA4 | c.1809del (p.Tyr603Ter) c.-65+469del (n.-65+469del) | ClinVar |
| 1 | g.94062705G>A | CA418822170 | ABCA4 | c.1809C>T (p.Tyr603=) c.-65+469C>T (n.-65+469C>T) | |
| 1 | g.94062705G>C | CA341279640 | ABCA4 | c.1809C>G (p.Tyr603Ter) c.-65+469C>G (n.-65+469C>G) | |
| 1 | g.94062705G>T | CA341279641 | ABCA4 | c.1809C>A (p.Tyr603Ter) c.-65+469C>A (n.-65+469C>A) | |
| 1 | g.94062706T>A | CA341279642 | ABCA4 | c.1808A>T (p.Tyr603Phe) c.-65+468A>T (n.-65+468A>T) | ClinVar dbSNP |
| 1 | g.94062706T>C | CA341279646 | ABCA4 | c.1808A>G (p.Tyr603Cys) c.-65+468A>G (n.-65+468A>G) | ClinVar |
| 1 | g.94062706T>G | CA341279643 | ABCA4 | c.1808A>C (p.Tyr603Ser) c.-65+468A>C (n.-65+468A>C) | |
| 1 | g.94062707A= | CA1181418852 | ABCA4 | c.1807T= (p.Tyr603=) c.-65+467T= (n.-65+467T=) | |
| 1 | g.94062707A>C | CA341279648 | ABCA4 | c.1807T>G (p.Tyr603Asp) c.-65+467T>G (n.-65+467T>G) | |
| 1 | g.94062707A>G | CA16617211 | ABCA4 | c.1807T>C (p.Tyr603His) c.-65+467T>C (n.-65+467T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062707A>T | CA341279651 | ABCA4 | c.1807T>A (p.Tyr603Asn) c.-65+467T>A (n.-65+467T>A) | |
| 1 | g.94062708C>A | CA418822176 | ABCA4 | c.1806G>T (p.Arg602=) c.-65+466G>T (n.-65+466G>T) | gnomAD v4 |
| 1 | g.94062708C>G | CA418822174 | ABCA4 | c.1806G>C (p.Arg602=) c.-65+466G>C (n.-65+466G>C) | gnomAD v4 |
| 1 | g.94062708C>T | CA418822175 | ABCA4 | c.1806G>A (p.Arg602=) c.-65+466G>A (n.-65+466G>A) | |
| 1 | g.94062709C>A | CA341279653 | ABCA4 | c.1805G>T (p.Arg602Leu) c.-65+465G>T (n.-65+465G>T) | |
| 1 | g.94062709C= | CA1140726096 | ABCA4 | c.1805G= (p.Arg602=) c.-65+465G= (n.-65+465G=) | |
| 1 | g.94062709C>G | CA341279655 | ABCA4 | c.1805G>C (p.Arg602Pro) c.-65+465G>C (n.-65+465G>C) | ClinVar gnomAD v4 |
| 1 | g.94062709C>T | CA226933 | ABCA4 | c.1805G>A (p.Arg602Gln) c.-65+465G>A (n.-65+465G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062710G>A | CA226932 | ABCA4 | c.1804C>T (p.Arg602Trp) c.-65+464C>T (n.-65+464C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062710G>C | CA341279659 | ABCA4 | c.1804C>G (p.Arg602Gly) c.-65+464C>G (n.-65+464C>G) | |
| 1 | g.94062710G= | CA1140726099 | ABCA4 | c.1804C= (p.Arg602=) c.-65+464C= (n.-65+464C=) | |
| 1 | g.94062710G>T | CA418822178 | ABCA4 | c.1804C>A (p.Arg602=) c.-65+464C>A (n.-65+464C>A) | |
| 1 | g.94062711G>A | CA958420 | ABCA4 | c.1803C>T (p.Phe601=) c.-65+463C>T (n.-65+463C>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.94062711G>C | CA341279661 | ABCA4 | c.1803C>G (p.Phe601Leu) c.-65+463C>G (n.-65+463C>G) | |
| 1 | g.94062711G= | CA1181418853 | ABCA4 | c.1803C= (p.Phe601=) c.-65+463C= (n.-65+463C=) | |
| 1 | g.94062711G>T | CA341279663 | ABCA4 | c.1803C>A (p.Phe601Leu) c.-65+463C>A (n.-65+463C>A) | |
| 1 | g.94062712A= | CA1181418854 | ABCA4 | c.1802T= (p.Phe601=) c.-65+462T= (n.-65+462T=) | |
| 1 | g.94062712A>C | CA341279668 | ABCA4 | c.1802T>G (p.Phe601Cys) c.-65+462T>G (n.-65+462T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062712A>G | CA341279666 | ABCA4 | c.1802T>C (p.Phe601Ser) c.-65+462T>C (n.-65+462T>C) | |
| 1 | g.94062712A>T | CA341279665 | ABCA4 | c.1802T>A (p.Phe601Tyr) c.-65+462T>A (n.-65+462T>A) | |
| 1 | g.94062713A= | CA1181418855 | ABCA4 | c.1801T= (p.Phe601=) c.-65+461T= (n.-65+461T=) | |
| 1 | g.94062713A>C | CA341279671 | ABCA4 | c.1801T>G (p.Phe601Val) c.-65+461T>G (n.-65+461T>G) | |
| 1 | g.94062713A>G | CA341279673 | ABCA4 | c.1801T>C (p.Phe601Leu) c.-65+461T>C (n.-65+461T>C) | dbSNP |
| 1 | g.94062713A>T | CA341279675 | ABCA4 | c.1801T>A (p.Phe601Ile) c.-65+461T>A (n.-65+461T>A) | |
| 1 | g.94062714A>C | CA341279677 | ABCA4 | c.1800T>G (p.Asp600Glu) c.-65+460T>G (n.-65+460T>G) | |
| 1 | g.94062714A>G | CA418822182 | ABCA4 | c.1800T>C (p.Asp600=) c.-65+460T>C (n.-65+460T>C) | gnomAD v4 |
| 1 | g.94062714A>T | CA341279678 | ABCA4 | c.1800T>A (p.Asp600Glu) c.-65+460T>A (n.-65+460T>A) | |
| 1 | g.94062715T>A | CA341279680 | ABCA4 | c.1799A>T (p.Asp600Val) c.-65+459A>T (n.-65+459A>T) | |
| 1 | g.94062715T>C | CA341279681 | ABCA4 | c.1799A>G (p.Asp600Gly) c.-65+459A>G (n.-65+459A>G) | |
| 1 | g.94062715T>G | CA341279684 | ABCA4 | c.1799A>C (p.Asp600Ala) c.-65+459A>C (n.-65+459A>C) | |
| 1 | g.94062716C>A | CA226929 | ABCA4 | c.1798G>T (p.Asp600Tyr) c.-65+458G>T (n.-65+458G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062716C= | CA1140726106 | ABCA4 | c.1798G= (p.Asp600=) c.-65+458G= (n.-65+458G=) | |
| 1 | g.94062716C>G | CA341279685 | ABCA4 | c.1798G>C (p.Asp600His) c.-65+458G>C (n.-65+458G>C) | COSMIC COSMIC |
| 1 | g.94062716C>T | CA341279687 | ABCA4 | c.1798G>A (p.Asp600Asn) c.-65+458G>A (n.-65+458G>A) | ClinVar dbSNP gnomAD v2 |
| 1 | g.94062717T>A | CA341279689 | ABCA4 | c.1797A>T (p.Glu599Asp) c.-65+457A>T (n.-65+457A>T) | |
| 1 | g.94062717T>C | CA418822186 | ABCA4 | c.1797A>G (p.Glu599=) c.-65+457A>G (n.-65+457A>G) | |
| 1 | g.94062717T>G | CA341279691 | ABCA4 | c.1797A>C (p.Glu599Asp) c.-65+457A>C (n.-65+457A>C) | |
| 1 | g.94062718T>A | CA341279696 | ABCA4 | c.1796A>T (p.Glu599Val) c.-65+456A>T (n.-65+456A>T) | |
| 1 | g.94062718T>C | CA341279698 | ABCA4 | c.1796A>G (p.Glu599Gly) c.-65+456A>G (n.-65+456A>G) | |
| 1 | g.94062718T>G | CA341279694 | ABCA4 | c.1796A>C (p.Glu599Ala) c.-65+456A>C (n.-65+456A>C) | |
| 1 | g.94062719C>A | CA341279701 | ABCA4 | c.1795G>T (p.Glu599Ter) c.-65+455G>T (n.-65+455G>T) | |
| 1 | g.94062719C>G | CA341279699 | ABCA4 | c.1795G>C (p.Glu599Gln) c.-65+455G>C (n.-65+455G>C) | |
| 1 | g.94062719C>T | CA341279702 | ABCA4 | c.1795G>A (p.Glu599Lys) c.-65+455G>A (n.-65+455G>A) | |
| 1 | g.94062720del | CA2586966943 | ABCA4 | c.1795del (p.Glu599LysfsTer?) c.-65+455del (n.-65+455del) | |
| 1 | g.94062720C>A | CA418822187 | ABCA4 | c.1794G>T (p.Val598=) c.-65+454G>T (n.-65+454G>T) | |
| 1 | g.94062720C>G | CA418822189 | ABCA4 | c.1794G>C (p.Val598=) c.-65+454G>C (n.-65+454G>C) | |
| 1 | g.94062720C>T | CA418822191 | ABCA4 | c.1794G>A (p.Val598=) c.-65+454G>A (n.-65+454G>A) | ClinVar |
| 1 | g.94062721A= | CA1181418856 | ABCA4 | c.1793T= (p.Val598=) c.-65+453T= (n.-65+453T=) | |
| 1 | g.94062721A>C | CA10602446 | ABCA4 | c.1793T>G (p.Val598Gly) c.-65+453T>G (n.-65+453T>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062721A>G | CA341279707 | ABCA4 | c.1793T>C (p.Val598Ala) c.-65+453T>C (n.-65+453T>C) | |
| 1 | g.94062721A>T | CA341279705 | ABCA4 | c.1793T>A (p.Val598Glu) c.-65+453T>A (n.-65+453T>A) | |
| 1 | g.94062722C>A | CA341279709 | ABCA4 | c.1792G>T (p.Val598Leu) c.-65+452G>T (n.-65+452G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062722C= | CA1143508600 | ABCA4 | c.1792G= (p.Val598=) c.-65+452G= (n.-65+452G=) | |
| 1 | g.94062722C>G | CA341279710 | ABCA4 | c.1792G>C (p.Val598Leu) c.-65+452G>C (n.-65+452G>C) | gnomAD v4 |
| 1 | g.94062722C>T | CA958421 | ABCA4 | c.1792G>A (p.Val598Met) c.-65+452G>A (n.-65+452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062722_94062723delinsCG | CA1181418857 | ABCA4 | c.1791_1792delinsCG (p.Pro597=) c.-65+451_-65+452delinsCG (n.-65+451_-65+452delinsCG) | |
| 1 | g.94062723G>A | CA958422 | ABCA4 | c.1791C>T (p.Pro597=) c.-65+451C>T (n.-65+451C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062723G>C | CA418822196 | ABCA4 | c.1791C>G (p.Pro597=) c.-65+451C>G (n.-65+451C>G) | |
| 1 | g.94062723G= | CA1149149370 | ABCA4 | c.1791C= (p.Pro597=) c.-65+451C= (n.-65+451C=) | |
| 1 | g.94062723G>T | CA418822198 | ABCA4 | c.1791C>A (p.Pro597=) c.-65+451C>A (n.-65+451C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062725del | CA1139656231 | ABCA4 | c.1791del (p.Val598TrpfsTer?) c.-65+451del (n.-65+451del) | ClinVar dbSNP |
| 1 | g.94062724G>A | CA341279714 | ABCA4 | c.1790C>T (p.Pro597Leu) c.-65+450C>T (n.-65+450C>T) | |
| 1 | g.94062724G>C | CA341279713 | ABCA4 | c.1790C>G (p.Pro597Arg) c.-65+450C>G (n.-65+450C>G) | |
| 1 | g.94062724G>T | CA341279716 | ABCA4 | c.1790C>A (p.Pro597His) c.-65+450C>A (n.-65+450C>A) | |
| 1 | g.94062725G>A | CA226926 | ABCA4 | c.1789C>T (p.Pro597Ser) c.-65+449C>T (n.-65+449C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062725G>C | CA341279720 | ABCA4 | c.1789C>G (p.Pro597Ala) c.-65+449C>G (n.-65+449C>G) | |
| 1 | g.94062725G= | CA1140726112 | ABCA4 | c.1789C= (p.Pro597=) c.-65+449C= (n.-65+449C=) | |
| 1 | g.94062725G>T | CA341279718 | ABCA4 | c.1789C>A (p.Pro597Thr) c.-65+449C>A (n.-65+449C>A) | |
| 1 | g.94062726A>C | CA341279723 | ABCA4 | c.1788T>G (p.Asp596Glu) c.-65+448T>G (n.-65+448T>G) | |
| 1 | g.94062726A>G | CA418822218 | ABCA4 | c.1788T>C (p.Asp596=) c.-65+448T>C (n.-65+448T>C) | |
| 1 | g.94062726A>T | CA341279725 | ABCA4 | c.1788T>A (p.Asp596Glu) c.-65+448T>A (n.-65+448T>A) | |
| 1 | g.94062727T>A | CA341279727 | ABCA4 | c.1787A>T (p.Asp596Val) c.-65+447A>T (n.-65+447A>T) | |
| 1 | g.94062727T>C | CA341279729 | ABCA4 | c.1787A>G (p.Asp596Gly) c.-65+447A>G (n.-65+447A>G) | |
| 1 | g.94062727T>G | CA341279730 | ABCA4 | c.1787A>C (p.Asp596Ala) c.-65+447A>C (n.-65+447A>C) | |
| 1 | g.94062728C>A | CA341279733 | ABCA4 | c.1786G>T (p.Asp596Tyr) c.-65+446G>T (n.-65+446G>T) | ClinVar dbSNP |
| 1 | g.94062728C= | CA1181418858 | ABCA4 | c.1786G= (p.Asp596=) c.-65+446G= (n.-65+446G=) | |
| 1 | g.94062728C>G | CA341279735 | ABCA4 | c.1786G>C (p.Asp596His) c.-65+446G>C (n.-65+446G>C) | |
| 1 | g.94062728C>T | CA341279736 | ABCA4 | c.1786G>A (p.Asp596Asn) c.-65+446G>A (n.-65+446G>A) | dbSNP |
| 1 | g.94062729A= | CA1181418859 | ABCA4 | c.1785T= (p.Ala595=) c.-65+445T= (n.-65+445T=) | |
| 1 | g.94062729A>C | CA418822231 | ABCA4 | c.1785T>G (p.Ala595=) c.-65+445T>G (n.-65+445T>G) | ClinVar dbSNP |
| 1 | g.94062729A>G | CA418822235 | ABCA4 | c.1785T>C (p.Ala595=) c.-65+445T>C (n.-65+445T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062729A>T | CA418822234 | ABCA4 | c.1785T>A (p.Ala595=) c.-65+445T>A (n.-65+445T>A) | |
| 1 | g.94062730G>A | CA341279739 | ABCA4 | c.1784C>T (p.Ala595Val) c.-65+444C>T (n.-65+444C>T) | |
| 1 | g.94062730G>C | CA341279741 | ABCA4 | c.1784C>G (p.Ala595Gly) c.-65+444C>G (n.-65+444C>G) | |
| 1 | g.94062730G>T | CA341279743 | ABCA4 | c.1784C>A (p.Ala595Asp) c.-65+444C>A (n.-65+444C>A) | |
| 1 | g.94062731C>A | CA341279745 | ABCA4 | c.1783G>T (p.Ala595Ser) c.-65+443G>T (n.-65+443G>T) | gnomAD v4 |
| 1 | g.94062731C>G | CA341279747 | ABCA4 | c.1783G>C (p.Ala595Pro) c.-65+443G>C (n.-65+443G>C) | |
| 1 | g.94062731C>T | CA341279749 | ABCA4 | c.1783G>A (p.Ala595Thr) c.-65+443G>A (n.-65+443G>A) | ClinVar dbSNP |
| 1 | g.94062732T>A | CA341279751 | ABCA4 | c.1782A>T (p.Arg594Ser) c.-65+442A>T (n.-65+442A>T) | |
| 1 | g.94062732T>C | CA418822247 | ABCA4 | c.1782A>G (p.Arg594=) c.-65+442A>G (n.-65+442A>G) | gnomAD v4 |
| 1 | g.94062732T>G | CA341279753 | ABCA4 | c.1782A>C (p.Arg594Ser) c.-65+442A>C (n.-65+442A>C) | |
| 1 | g.94062733C>A | CA341279756 | ABCA4 | c.1781G>T (p.Arg594Ile) c.-65+441G>T (n.-65+441G>T) | |
| 1 | g.94062733C= | CA1181418860 | ABCA4 | c.1781G= (p.Arg594=) c.-65+441G= (n.-65+441G=) | |
| 1 | g.94062733C>G | CA341279758 | ABCA4 | c.1781G>C (p.Arg594Thr) c.-65+441G>C (n.-65+441G>C) | dbSNP |
| 1 | g.94062733C>T | CA341279760 | ABCA4 | c.1781G>A (p.Arg594Lys) c.-65+441G>A (n.-65+441G>A) | |
| 1 | g.94062734T>A | CA341279762 | ABCA4 | c.1780A>T (p.Arg594Ter) c.-65+440A>T (n.-65+440A>T) | |
| 1 | g.94062734T>C | CA958423 | ABCA4 | c.1780A>G (p.Arg594Gly) c.-65+440A>G (n.-65+440A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062734T>G | CA418822264 | ABCA4 | c.1780A>C (p.Arg594=) c.-65+440A>C (n.-65+440A>C) | |
| 1 | g.94062734T= | CA1181418861 | ABCA4 | c.1780A= (p.Arg594=) c.-65+440A= (n.-65+440A=) | |
| 1 | g.94062735G>A | CA418822267 | ABCA4 | c.1779C>T (p.Pro593=) c.-65+439C>T (n.-65+439C>T) | |
| 1 | g.94062735G>C | CA418822269 | ABCA4 | c.1779C>G (p.Pro593=) c.-65+439C>G (n.-65+439C>G) | |
| 1 | g.94062735G>T | CA418822271 | ABCA4 | c.1779C>A (p.Pro593=) c.-65+439C>A (n.-65+439C>A) | |
| 1 | g.94062736G>A | CA341279766 | ABCA4 | c.1778C>T (p.Pro593Leu) c.-65+438C>T (n.-65+438C>T) | |
| 1 | g.94062736G>C | CA341279767 | ABCA4 | c.1778C>G (p.Pro593Arg) c.-65+438C>G (n.-65+438C>G) | dbSNP |
| 1 | g.94062736G>T | CA341279768 | ABCA4 | c.1778C>A (p.Pro593His) c.-65+438C>A (n.-65+438C>A) | |
| 1 | g.94062737G>A | CA341279769 | ABCA4 | c.1777C>T (p.Pro593Ser) c.-65+437C>T (n.-65+437C>T) | |
| 1 | g.94062737G>C | CA341279770 | ABCA4 | c.1777C>G (p.Pro593Ala) c.-65+437C>G (n.-65+437C>G) | |
| 1 | g.94062737G>T | CA341279771 | ABCA4 | c.1777C>A (p.Pro593Thr) c.-65+437C>A (n.-65+437C>A) | |
| 1 | g.94062738A>C | CA418822295 | ABCA4 | c.1776T>G (p.Gly592=) c.-65+436T>G (n.-65+436T>G) | |
| 1 | g.94062738A>G | CA418822298 | ABCA4 | c.1776T>C (p.Gly592=) c.-65+436T>C (n.-65+436T>C) | |
| 1 | g.94062738A>T | CA418822293 | ABCA4 | c.1776T>A (p.Gly592=) c.-65+436T>A (n.-65+436T>A) | |
| 1 | g.94062739C>A | CA341279773 | ABCA4 | c.1775G>T (p.Gly592Val) c.-65+435G>T (n.-65+435G>T) | gnomAD v4 |
| 1 | g.94062739C>G | CA341279774 | ABCA4 | c.1775G>C (p.Gly592Ala) c.-65+435G>C (n.-65+435G>C) | |
| 1 | g.94062739C>T | CA341279772 | ABCA4 | c.1775G>A (p.Gly592Asp) c.-65+435G>A (n.-65+435G>A) | |
| 1 | g.94062740C>A | CA341279775 | ABCA4 | c.1774G>T (p.Gly592Cys) c.-65+434G>T (n.-65+434G>T) | |
| 1 | g.94062740C>G | CA341279776 | ABCA4 | c.1774G>C (p.Gly592Arg) c.-65+434G>C (n.-65+434G>C) | |
| 1 | g.94062740C>T | CA341279777 | ABCA4 | c.1774G>A (p.Gly592Ser) c.-65+434G>A (n.-65+434G>A) | |
| 1 | g.94062741A= | CA1181418862 | ABCA4 | c.1773T= (p.Ser591=) c.-65+433T= (n.-65+433T=) | |
| 1 | g.94062741A>C | CA418822316 | ABCA4 | c.1773T>G (p.Ser591=) c.-65+433T>G (n.-65+433T>G) | |
| 1 | g.94062741A>G | CA958425 | ABCA4 | c.1773T>C (p.Ser591=) c.-65+433T>C (n.-65+433T>C) | dbSNP ExAC |
| 1 | g.94062741A>T | CA958424 | ABCA4 | c.1773T>A (p.Ser591=) c.-65+433T>A (n.-65+433T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062742G>A | CA341279780 | ABCA4 | c.1772C>T (p.Ser591Phe) c.-65+432C>T (n.-65+432C>T) | |
| 1 | g.94062742G>C | CA341279778 | ABCA4 | c.1772C>G (p.Ser591Cys) c.-65+432C>G (n.-65+432C>G) | |
| 1 | g.94062742G= | CA1181418863 | ABCA4 | c.1772C= (p.Ser591=) c.-65+432C= (n.-65+432C=) | |
| 1 | g.94062742G>T | CA341279779 | ABCA4 | c.1772C>A (p.Ser591Tyr) c.-65+432C>A (n.-65+432C>A) | dbSNP |
| 1 | g.94062743A>C | CA341279781 | ABCA4 | c.1771T>G (p.Ser591Ala) c.-65+431T>G (n.-65+431T>G) | |
| 1 | g.94062743A>G | CA341279782 | ABCA4 | c.1771T>C (p.Ser591Pro) c.-65+431T>C (n.-65+431T>C) | |
| 1 | g.94062743A>T | CA341279783 | ABCA4 | c.1771T>A (p.Ser591Thr) c.-65+431T>A (n.-65+431T>A) | |
| 1 | g.94062744A>C | CA341279784 | ABCA4 | c.1770T>G (p.Asp590Glu) c.-65+430T>G (n.-65+430T>G) | |
| 1 | g.94062744A>G | CA418822331 | ABCA4 | c.1770T>C (p.Asp590=) c.-65+430T>C (n.-65+430T>C) | |
| 1 | g.94062744A>T | CA341279785 | ABCA4 | c.1770T>A (p.Asp590Glu) c.-65+430T>A (n.-65+430T>A) | |
| 1 | g.94062745T>A | CA341279786 | ABCA4 | c.1769A>T (p.Asp590Val) c.-65+429A>T (n.-65+429A>T) | |
| 1 | g.94062745T>C | CA341279788 | ABCA4 | c.1769A>G (p.Asp590Gly) c.-65+429A>G (n.-65+429A>G) | |
| 1 | g.94062745T>G | CA341279787 | ABCA4 | c.1769A>C (p.Asp590Ala) c.-65+429A>C (n.-65+429A>C) | |
| 1 | g.94062746C>A | CA341279789 | ABCA4 | c.1768G>T (p.Asp590Tyr) c.-65+428G>T (n.-65+428G>T) | |
| 1 | g.94062746C>G | CA341279790 | ABCA4 | c.1768G>C (p.Asp590His) c.-65+428G>C (n.-65+428G>C) | |
| 1 | g.94062746C>T | CA341279791 | ABCA4 | c.1768G>A (p.Asp590Asn) c.-65+428G>A (n.-65+428G>A) | |
| 1 | g.94062747C>A | CA341279792 | ABCA4 | c.1767G>T (p.Trp589Cys) c.-65+427G>T (n.-65+427G>T) | |
| 1 | g.94062747C>G | CA341279793 | ABCA4 | c.1767G>C (p.Trp589Cys) c.-65+427G>C (n.-65+427G>C) | |
| 1 | g.94062747C>T | CA341279794 | ABCA4 | c.1767G>A (p.Trp589Ter) c.-65+427G>A (n.-65+427G>A) | ClinVar |
| 1 | g.94062748C>A | CA341279795 | ABCA4 | c.1766G>T (p.Trp589Leu) c.-65+426G>T (n.-65+426G>T) | |
| 1 | g.94062748C>G | CA341279796 | ABCA4 | c.1766G>C (p.Trp589Ser) c.-65+426G>C (n.-65+426G>C) | |
| 1 | g.94062748C>T | CA341279797 | ABCA4 | c.1766G>A (p.Trp589Ter) c.-65+426G>A (n.-65+426G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062748_94062749delinsCA | CA1181418864 | ABCA4 | c.1765_1766delinsTG (p.Trp589=) c.-65+425_-65+426delinsTG (n.-65+425_-65+426delinsTG) | |
| 1 | g.94062749A>C | CA341279798 | ABCA4 | c.1765T>G (p.Trp589Gly) c.-65+425T>G (n.-65+425T>G) | |
| 1 | g.94062749A>G | CA341279799 | ABCA4 | c.1765T>C (p.Trp589Arg) c.-65+425T>C (n.-65+425T>C) | |
| 1 | g.94062749A>T | CA341279800 | ABCA4 | c.1765T>A (p.Trp589Arg) c.-65+425T>A (n.-65+425T>A) | |
| 1 | g.94062750del | CA913189327 | ABCA4 | c.1765del (p.Trp589GlyfsTer?) c.-65+425del (n.-65+425del) | ClinVar dbSNP |
| 1 | g.94062750A>C | CA341279801 | ABCA4 | c.1764T>G (p.Tyr588Ter) c.-65+424T>G (n.-65+424T>G) | |
| 1 | g.94062750A>G | CA418822363 | ABCA4 | c.1764T>C (p.Tyr588=) c.-65+424T>C (n.-65+424T>C) | ClinVar |
| 1 | g.94062750A>T | CA341279802 | ABCA4 | c.1764T>A (p.Tyr588Ter) c.-65+424T>A (n.-65+424T>A) | |
| 1 | g.94062751T>A | CA26848281 | ABCA4 | c.1763A>T (p.Tyr588Phe) c.-65+423A>T (n.-65+423A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062751T>C | CA341279804 | ABCA4 | c.1763A>G (p.Tyr588Cys) c.-65+423A>G (n.-65+423A>G) | dbSNP |
| 1 | g.94062751T>G | CA341279803 | ABCA4 | c.1763A>C (p.Tyr588Ser) c.-65+423A>C (n.-65+423A>C) | |
| 1 | g.94062751T= | CA1181418865 | ABCA4 | c.1763A= (p.Tyr588=) c.-65+423A= (n.-65+423A=) | |
| 1 | g.94062752A>C | CA341279805 | ABCA4 | c.1762T>G (p.Tyr588Asp) c.-65+422T>G (n.-65+422T>G) | |
| 1 | g.94062752A>G | CA341279806 | ABCA4 | c.1762T>C (p.Tyr588His) c.-65+422T>C (n.-65+422T>C) | |
| 1 | g.94062752A>T | CA341279807 | ABCA4 | c.1762T>A (p.Tyr588Asn) c.-65+422T>A (n.-65+422T>A) | |
| 1 | g.94062753C>A | CA341279808 | ABCA4 | c.1761G>T (p.Arg587Ser) c.-65+421G>T (n.-65+421G>T) | ClinVar dbSNP |
| 1 | g.94062753C= | CA1181418866 | ABCA4 | c.1761G= (p.Arg587=) c.-65+421G= (n.-65+421G=) | |
| 1 | g.94062753C>G | CA341279809 | ABCA4 | c.1761G>C (p.Arg587Ser) c.-65+421G>C (n.-65+421G>C) | |
| 1 | g.94062753C>T | CA418822390 | ABCA4 | c.1761G>A (p.Arg587=) c.-65+421G>A (n.-65+421G>A) | |
| 1 | g.94062753_94062756del | CA2744619256 | ABCA4 | c.1761-3_1761del c.-65+418_-65+421del (n.-65+418_-65+421del) | |
| 1 | g.94062754C>A | CA341279810 | ABCA4 | c.1761-1G>T (n.1761-1G>T) c.-65+420G>T (n.-65+420G>T) | |
| 1 | g.94062754C>G | CA341279811 | ABCA4 | c.1761-1G>C (n.1761-1G>C) c.-65+420G>C (n.-65+420G>C) | |
| 1 | g.94062754C>T | CA341279812 | ABCA4 | c.1761-1G>A (n.1761-1G>A) c.-65+420G>A (n.-65+420G>A) | ClinVar |
| 1 | g.94062755T>A | CA341279814 | ABCA4 | c.1761-2A>T (n.1761-2A>T) c.-65+419A>T (n.-65+419A>T) | |
| 1 | g.94062755T>C | CA958426 | ABCA4 | c.1761-2A>G (n.1761-2A>G) c.-65+419A>G (n.-65+419A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062755T>G | CA341279816 | ABCA4 | c.1761-2A>C (n.1761-2A>C) c.-65+419A>C (n.-65+419A>C) | |
| 1 | g.94062755T= | CA1181418867 | ABCA4 | c.1761-2A= (n.1761-2A=) c.-65+419A= (n.-65+419A=) | |
| 1 | g.94062756_94062758del | CA2574438652 | ABCA4 | c.1761-5_1761-3del (n.1761-5_1761-3del) c.-65+416_-65+418del (n.-65+416_-65+418del) | gnomAD v4 |
| 1 | g.94062758G>C | CA524697615 | ABCA4 | c.1761-5C>G (n.1761-5C>G) c.-65+416C>G (n.-65+416C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062758G= | CA1181418868 | ABCA4 | c.1761-5C= (n.1761-5C=) c.-65+416C= (n.-65+416C=) | |
| 1 | g.94062758G>T | CA2646651744 | ABCA4 | c.1761-5C>A (n.1761-5C>A) c.-65+416C>A (n.-65+416C>A) | gnomAD v4 |
| 1 | g.94062761G>A | CA2646651745 | ABCA4 | c.1761-8C>T (n.1761-8C>T) c.-65+413C>T (n.-65+413C>T) | gnomAD v4 |
| 1 | g.94062761_94062763delinsGAC | CA1181418869 | ABCA4 | c.1761-10_1761-8delinsGTC (n.1761-10_1761-8delinsGTC) c.-65+411_-65+413delinsGTC (n.-65+411_-65+413delinsGTC) | |
| 1 | g.94062762A= | CA1181418870 | ABCA4 | c.1761-9T= (n.1761-9T=) c.-65+412T= (n.-65+412T=) | |
| 1 | g.94062762A>G | CA740456702 | ABCA4 | c.1761-9T>C (n.1761-9T>C) c.-65+412T>C (n.-65+412T>C) | ClinVar dbSNP |
| 1 | g.94062765_94062766del | CA740456696 | ABCA4 | c.1761-10_1761-9del (n.1761-10_1761-9del) c.-65+411_-65+412del (n.-65+411_-65+412del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062763C>G | CA2697552527 | ABCA4 | c.1761-10G>C (n.1761-10G>C) c.-65+411G>C (n.-65+411G>C) | ClinVar |
| 1 | g.94062766A>G | CA2646651746 | ABCA4 | c.1761-13T>C (n.1761-13T>C) c.-65+408T>C (n.-65+408T>C) | gnomAD v4 |
| 1 | g.94062767G>A | CA2697552528 | ABCA4 | c.1761-14C>T (n.1761-14C>T) c.-65+407C>T (n.-65+407C>T) | ClinVar |
| 1 | g.94062769G>T | CA915940474 | ABCA4 | c.1761-16C>A (n.1761-16C>A) c.-65+405C>A (n.-65+405C>A) | gnomAD v4 |
| 1 | g.94062771G>C | CA2646651747 | ABCA4 | c.1761-18C>G (n.1761-18C>G) c.-65+403C>G (n.-65+403C>G) | gnomAD v4 |
| 1 | g.94062773C>A | CA2646651748 | ABCA4 | c.1761-20G>T (n.1761-20G>T) c.-65+401G>T (n.-65+401G>T) | gnomAD v4 |
| 1 | g.94062773C>G | CA2574438654 | ABCA4 | c.1761-20G>C (n.1761-20G>C) c.-65+401G>C (n.-65+401G>C) | |
| 1 | g.94062773C>T | CA2696612809 | ABCA4 | c.1761-20G>A (n.1761-20G>A) c.-65+401G>A (n.-65+401G>A) | dbSNP |
| 1 | g.94062775A= | CA1181418871 | ABCA4 | c.1761-22T= (n.1761-22T=) c.-65+399T= (n.-65+399T=) | |
| 1 | g.94062775A>G | CA958427 | ABCA4 | c.1761-22T>C (n.1761-22T>C) c.-65+399T>C (n.-65+399T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062776A= | CA1181418872 | ABCA4 | c.1761-23T= (n.1761-23T=) c.-65+398T= (n.-65+398T=) | |
| 1 | g.94062776A>C | CA1004553083 | ABCA4 | c.1761-23T>G (n.1761-23T>G) c.-65+398T>G (n.-65+398T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062776_94062777delinsAG | CA1181418873 | ABCA4 | c.1761-24_1761-23delinsCT (n.1761-24_1761-23delinsCT) c.-65+397_-65+398delinsCT (n.-65+397_-65+398delinsCT) | |
| 1 | g.94062777G>A | CA2574438656 | ABCA4 | c.1761-24C>T (n.1761-24C>T) c.-65+397C>T (n.-65+397C>T) | |
| 1 | g.94062778del | CA1181418874 | ABCA4 | c.1761-24del (n.1761-24del) c.-65+397del (n.-65+397del) | dbSNP |
| 1 | g.94062778G>A | CA740456707 | ABCA4 | c.1761-25C>T (n.1761-25C>T) c.-65+396C>T (n.-65+396C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062778G= | CA1181418875 | ABCA4 | c.1761-25C= (n.1761-25C=) c.-65+396C= (n.-65+396C=) | |
| 1 | g.94062778G>T | CA2646651749 | ABCA4 | c.1761-25C>A (n.1761-25C>A) c.-65+396C>A (n.-65+396C>A) | gnomAD v4 |
| 1 | g.94062780T>C | CA2646651750 | ABCA4 | c.1761-27A>G (n.1761-27A>G) c.-65+394A>G (n.-65+394A>G) | gnomAD v4 |
| 1 | g.94062781G>A | CA2646651751 | ABCA4 | c.1761-28C>T (n.1761-28C>T) c.-65+393C>T (n.-65+393C>T) | gnomAD v4 |
| 1 | g.94062781G>T | CA2646651752 | ABCA4 | c.1761-28C>A (n.1761-28C>A) c.-65+393C>A (n.-65+393C>A) | gnomAD v4 |