Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153742986G>A | CA278516 | ABCD1 | c.1781-1G>A (n.1781-1G>A) n.2253-1G>A | ClinVar dbSNP |
X | g.153742986G>C | CA415115598 | ABCD1 | c.1781-1G>C (n.1781-1G>C) n.2253-1G>C | |
X | g.153742986G= | CA2466457511 | ABCD1 | c.1781-1G= (n.1781-1G=) n.2253-1G= | |
X | g.153742986G>T | CA415115596 | ABCD1 | c.1781-1G>T (n.1781-1G>T) n.2253-1G>T | ClinVar gnomAD v4 |
X | g.153742987G>A | CA415115602 | ABCD1 | c.1781G>A (p.Gly594Asp) n.2253G>A | |
X | g.153742987G>C | CA415115605 | ABCD1 | c.1781G>C (p.Gly594Ala) n.2253G>C | |
X | g.153742987G>T | CA415115608 | ABCD1 | c.1781G>T (p.Gly594Val) n.2253G>T | gnomAD v4 |
X | g.153742988T>A | CA519229919 | ABCD1 | c.1782T>A (p.Gly594=) n.2254T>A | |
X | g.153742988T>C | CA519229922 | ABCD1 | c.1782T>C (p.Gly594=) n.2254T>C | gnomAD v4 |
X | g.153742988T>G | CA519229926 | ABCD1 | c.1782T>G (p.Gly594=) n.2254T>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.153742988T= | CA2466457512 | ABCD1 | c.1782T= (p.Gly594=) n.2254T= | |
X | g.153742989T>A | CA415115610 | ABCD1 | c.1783T>A (p.Trp595Arg) n.2255T>A | |
X | g.153742989T>C | CA415115612 | ABCD1 | c.1783T>C (p.Trp595Arg) n.2255T>C | |
X | g.153742989T>G | CA415115614 | ABCD1 | c.1783T>G (p.Trp595Gly) n.2255T>G | |
X | g.153742990G>A | CA415115616 | ABCD1 | c.1784G>A (p.Trp595Ter) n.2256G>A | ClinVar dbSNP gnomAD v4 |
X | g.153742990G>C | CA415115617 | ABCD1 | c.1784G>C (p.Trp595Ser) n.2256G>C | |
X | g.153742990G= | CA2466457513 | ABCD1 | c.1784G= (p.Trp595=) n.2256G= | |
X | g.153742990G>T | CA415115618 | ABCD1 | c.1784G>T (p.Trp595Leu) n.2256G>T | gnomAD v4 |
X | g.153742991G>A | CA415115625 | ABCD1 | c.1785G>A (p.Trp595Ter) n.2257G>A | ClinVar dbSNP gnomAD v4 |
X | g.153742991G>C | CA415115622 | ABCD1 | c.1785G>C (p.Trp595Cys) n.2257G>C | |
X | g.153742991G>T | CA415115619 | ABCD1 | c.1785G>T (p.Trp595Cys) n.2257G>T | |
X | g.153742992G>A | CA415115626 | ABCD1 | c.1786G>A (p.Glu596Lys) n.2258G>A | |
X | g.153742992G>C | CA415115630 | ABCD1 | c.1786G>C (p.Glu596Gln) n.2258G>C | |
X | g.153742992G>T | CA415115628 | ABCD1 | c.1786G>T (p.Glu596Ter) n.2258G>T | |
X | g.153742993A>C | CA415115633 | ABCD1 | c.1787A>C (p.Glu596Ala) n.2259A>C | |
X | g.153742993A>G | CA415115636 | ABCD1 | c.1787A>G (p.Glu596Gly) n.2259A>G | gnomAD v4 |
X | g.153742993A>T | CA415115639 | ABCD1 | c.1787A>T (p.Glu596Val) n.2259A>T | |
X | g.153742994G>A | CA519229963 | ABCD1 | c.1788G>A (p.Glu596=) n.2260G>A | ClinVar dbSNP gnomAD v4 |
X | g.153742994G>C | CA415115642 | ABCD1 | c.1788G>C (p.Glu596Asp) n.2260G>C | |
X | g.153742994G= | CA2466457514 | ABCD1 | c.1788G= (p.Glu596=) n.2260G= | |
X | g.153742994G>T | CA415115645 | ABCD1 | c.1788G>T (p.Glu596Asp) n.2260G>T | |
X | g.153742995G>A | CA415115649 | ABCD1 | c.1789G>A (p.Ala597Thr) n.2261G>A | dbSNP gnomAD v2 |
X | g.153742995G>C | CA415115653 | ABCD1 | c.1789G>C (p.Ala597Pro) n.2261G>C | |
X | g.153742995G= | CA2466457515 | ABCD1 | c.1789G= (p.Ala597=) n.2261G= | |
X | g.153742995G>T | CA415115655 | ABCD1 | c.1789G>T (p.Ala597Ser) n.2261G>T | gnomAD v4 |
X | g.153742996C>A | CA415115659 | ABCD1 | c.1790C>A (p.Ala597Asp) n.2262C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.153742996C= | CA2466457516 | ABCD1 | c.1790C= (p.Ala597=) n.2262C= | |
X | g.153742996C>G | CA10550317 | ABCD1 | c.1790C>G (p.Ala597Gly) n.2262C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153742996C>T | CA415115665 | ABCD1 | c.1790C>T (p.Ala597Val) n.2262C>T | |
X | g.153742997T>A | CA519229986 | ABCD1 | c.1791T>A (p.Ala597=) n.2263T>A | gnomAD v4 |
X | g.153742997T>C | CA10550318 | ABCD1 | c.1791T>C (p.Ala597=) n.2263T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153742997T>G | CA519229990 | ABCD1 | c.1791T>G (p.Ala597=) n.2263T>G | |
X | g.153742997T= | CA2466457517 | ABCD1 | c.1791T= (p.Ala597=) n.2263T= | |
X | g.153742998_153742999del | CA2499226455 | ABCD1 | c.1792_1793del (p.Met598ValfsTer2) n.2264_2265del | ClinVar dbSNP |
X | g.153742998A= | CA2466457518 | ABCD1 | c.1792A= (p.Met598=) n.2264A= | |
X | g.153742998A>C | CA415115670 | ABCD1 | c.1792A>C (p.Met598Leu) n.2264A>C | |
X | g.153742998A>G | CA247488 | ABCD1 | c.1792A>G (p.Met598Val) n.2264A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153742998A>T | CA415115673 | ABCD1 | c.1792A>T (p.Met598Leu) n.2264A>T | |
X | g.153742999T>A | CA415115677 | ABCD1 | c.1793T>A (p.Met598Lys) n.2265T>A | |
X | g.153742999T>C | CA415115679 | ABCD1 | c.1793T>C (p.Met598Thr) n.2265T>C | dbSNP |