Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138734135C>A | CA369379570 | ATP6V0A4 | c.1691+1G>T (n.1691+1G>T) c.917+1G>T (n.917+1G>T) c.584+1G>T (n.584+1G>T) | |
7 | g.138734135C= | CA1746777466 | ATP6V0A4 | c.1691+1G= (n.1691+1G=) c.917+1G= (n.917+1G=) c.584+1G= (n.584+1G=) | |
7 | g.138734135C>G | CA369379572 | ATP6V0A4 | c.1691+1G>C (n.1691+1G>C) c.917+1G>C (n.917+1G>C) c.584+1G>C (n.584+1G>C) | |
7 | g.138734135C>T | CA117291 | ATP6V0A4 | c.1691+1G>A (n.1691+1G>A) c.917+1G>A (n.917+1G>A) c.584+1G>A (n.584+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138734136A= | CA1746777467 | ATP6V0A4 | c.1691T= (p.Ile564=) c.917T= (p.Ile306=) c.584T= (p.Ile195=) | |
7 | g.138734136A>C | CA369379575 | ATP6V0A4 | c.1691T>G (p.Ile564Arg) c.917T>G (p.Ile306Arg) c.584T>G (p.Ile195Arg) | gnomAD v4 |
7 | g.138734136A>G | CA167133981 | ATP6V0A4 | c.1691T>C (p.Ile564Thr) c.917T>C (p.Ile306Thr) c.584T>C (p.Ile195Thr) | dbSNP gnomAD v4 |
7 | g.138734136A>T | CA369379576 | ATP6V0A4 | c.1691T>A (p.Ile564Lys) c.917T>A (p.Ile306Lys) c.584T>A (p.Ile195Lys) | |
7 | g.138734136_138734142delinsATGTGAT | CA1746777468 | ATP6V0A4 | c.1685_1691delinsATCACAT (p.Asn562=) c.911_917delinsATCACAT (p.Asn304=) c.578_584delinsATCACAT (p.Asn193=) | |
7 | g.138734137T>A | CA369379579 | ATP6V0A4 | c.1690A>T (p.Ile564Leu) c.916A>T (p.Ile306Leu) c.583A>T (p.Ile195Leu) | |
7 | g.138734137T>C | CA369379580 | ATP6V0A4 | c.1690A>G (p.Ile564Val) c.916A>G (p.Ile306Val) c.583A>G (p.Ile195Val) | gnomAD v4 |
7 | g.138734137T>G | CA369379582 | ATP6V0A4 | c.1690A>C (p.Ile564Leu) c.916A>C (p.Ile306Leu) c.583A>C (p.Ile195Leu) | |
7 | g.138734139_138734144del | CA918143650 | ATP6V0A4 | c.1685_1690del (p.Asn562_His563del) c.911_916del (p.Asn304_His305del) c.578_583del (p.Asn193_His194del) | dbSNP |
7 | g.138734138G>A | CA4504687 | ATP6V0A4 | c.1689C>T (p.His563=) c.915C>T (p.His305=) c.582C>T (p.His194=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.138734138G>C | CA369379585 | ATP6V0A4 | c.1689C>G (p.His563Gln) c.915C>G (p.His305Gln) c.582C>G (p.His194Gln) | |
7 | g.138734138G= | CA1746777469 | ATP6V0A4 | c.1689C= (p.His563=) c.915C= (p.His305=) c.582C= (p.His194=) | |
7 | g.138734138G>T | CA4504686 | ATP6V0A4 | c.1689C>A (p.His563Gln) c.915C>A (p.His305Gln) c.582C>A (p.His194Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138734139T>A | CA4504688 | ATP6V0A4 | c.1688A>T (p.His563Leu) c.914A>T (p.His305Leu) c.581A>T (p.His194Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138734139T>C | CA369379591 | ATP6V0A4 | c.1688A>G (p.His563Arg) c.914A>G (p.His305Arg) c.581A>G (p.His194Arg) | |
7 | g.138734139T>G | CA369379593 | ATP6V0A4 | c.1688A>C (p.His563Pro) c.914A>C (p.His305Pro) c.581A>C (p.His194Pro) | |
7 | g.138734139T= | CA1746777470 | ATP6V0A4 | c.1688A= (p.His563=) c.914A= (p.His305=) c.581A= (p.His194=) | |
7 | g.138734140G>A | CA369379594 | ATP6V0A4 | c.1687C>T (p.His563Tyr) c.913C>T (p.His305Tyr) c.580C>T (p.His194Tyr) | |
7 | g.138734140G>C | CA369379596 | ATP6V0A4 | c.1687C>G (p.His563Asp) c.913C>G (p.His305Asp) c.580C>G (p.His194Asp) | |
7 | g.138734140G>T | CA369379597 | ATP6V0A4 | c.1687C>A (p.His563Asn) c.913C>A (p.His305Asn) c.580C>A (p.His194Asn) | gnomAD v4 |
7 | g.138734141A= | CA1746777471 | ATP6V0A4 | c.1686T= (p.Asn562=) c.912T= (p.Asn304=) c.579T= (p.Asn193=) | |
7 | g.138734141A>C | CA369379598 | ATP6V0A4 | c.1686T>G (p.Asn562Lys) c.912T>G (p.Asn304Lys) c.579T>G (p.Asn193Lys) | dbSNP |
7 | g.138734141A>G | CA457941935 | ATP6V0A4 | c.1686T>C (p.Asn562=) c.912T>C (p.Asn304=) c.579T>C (p.Asn193=) | |
7 | g.138734141A>T | CA369379600 | ATP6V0A4 | c.1686T>A (p.Asn562Lys) c.912T>A (p.Asn304Lys) c.579T>A (p.Asn193Lys) | |
7 | g.138734142T>A | CA369379602 | ATP6V0A4 | c.1685A>T (p.Asn562Ile) c.911A>T (p.Asn304Ile) c.578A>T (p.Asn193Ile) | |
7 | g.138734142T>C | CA369379604 | ATP6V0A4 | c.1685A>G (p.Asn562Ser) c.911A>G (p.Asn304Ser) c.578A>G (p.Asn193Ser) | gnomAD v4 |
7 | g.138734142T>G | CA369379605 | ATP6V0A4 | c.1685A>C (p.Asn562Thr) c.911A>C (p.Asn304Thr) c.578A>C (p.Asn193Thr) | |
7 | g.138734143T>A | CA369379606 | ATP6V0A4 | c.1684A>T (p.Asn562Tyr) c.910A>T (p.Asn304Tyr) c.577A>T (p.Asn193Tyr) | |
7 | g.138734143T>C | CA167134011 | ATP6V0A4 | c.1684A>G (p.Asn562Asp) c.910A>G (p.Asn304Asp) c.577A>G (p.Asn193Asp) | dbSNP |
7 | g.138734143T>G | CA369379607 | ATP6V0A4 | c.1684A>C (p.Asn562His) c.910A>C (p.Asn304His) c.577A>C (p.Asn193His) | |
7 | g.138734143T= | CA1746777472 | ATP6V0A4 | c.1684A= (p.Asn562=) c.910A= (p.Asn304=) c.577A= (p.Asn193=) | |
7 | g.138734144G>A | CA457941938 | ATP6V0A4 | c.1683C>T (p.Phe561=) c.909C>T (p.Phe303=) c.576C>T (p.Phe192=) | |
7 | g.138734144G>C | CA369379609 | ATP6V0A4 | c.1683C>G (p.Phe561Leu) c.909C>G (p.Phe303Leu) c.576C>G (p.Phe192Leu) | |
7 | g.138734144G>T | CA369379608 | ATP6V0A4 | c.1683C>A (p.Phe561Leu) c.909C>A (p.Phe303Leu) c.576C>A (p.Phe192Leu) | gnomAD v4 |
7 | g.138734145A= | CA1746777473 | ATP6V0A4 | c.1682T= (p.Phe561=) c.908T= (p.Phe303=) c.575T= (p.Phe192=) | |
7 | g.138734145A>C | CA4504689 | ATP6V0A4 | c.1682T>G (p.Phe561Cys) c.908T>G (p.Phe303Cys) c.575T>G (p.Phe192Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138734145A>G | CA369379612 | ATP6V0A4 | c.1682T>C (p.Phe561Ser) c.908T>C (p.Phe303Ser) c.575T>C (p.Phe192Ser) | |
7 | g.138734145A>T | CA369379614 | ATP6V0A4 | c.1682T>A (p.Phe561Tyr) c.908T>A (p.Phe303Tyr) c.575T>A (p.Phe192Tyr) | |
7 | g.138734148del | CA2685128057 | ATP6V0A4 | c.1682del (p.Phe561SerfsTer20) c.908del (p.Phe303SerfsTer20) c.575del (p.Phe192SerfsTer20) | gnomAD v4 |
7 | g.138734146A= | CA1746777474 | ATP6V0A4 | c.1681T= (p.Phe561=) c.907T= (p.Phe303=) c.574T= (p.Phe192=) | |
7 | g.138734146A>C | CA369379615 | ATP6V0A4 | c.1681T>G (p.Phe561Val) c.907T>G (p.Phe303Val) c.574T>G (p.Phe192Val) | |
7 | g.138734146A>G | CA369379617 | ATP6V0A4 | c.1681T>C (p.Phe561Leu) c.907T>C (p.Phe303Leu) c.574T>C (p.Phe192Leu) | |
7 | g.138734146A>T | CA4504690 | ATP6V0A4 | c.1681T>A (p.Phe561Ile) c.907T>A (p.Phe303Ile) c.574T>A (p.Phe192Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138734147A>C | CA457941945 | ATP6V0A4 | c.1680T>G (p.Leu560=) c.906T>G (p.Leu302=) c.573T>G (p.Leu191=) | |
7 | g.138734147A>G | CA457941946 | ATP6V0A4 | c.1680T>C (p.Leu560=) c.906T>C (p.Leu302=) c.573T>C (p.Leu191=) | |
7 | g.138734147A>T | CA457941947 | ATP6V0A4 | c.1680T>A (p.Leu560=) c.906T>A (p.Leu302=) c.573T>A (p.Leu191=) |