Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26480761_26480779del | CA531761988 | OTOF | c.1803+14_1803+32del (n.1803+14_1803+32del) c.1848+14_1848+32del (n.1848+14_1848+32del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480779dup | CA1564176 | OTOF | c.1803+10dup (n.1803+10dup) c.1848+10dup (n.1848+10dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480779del | CA2576699681 | OTOF | c.1803+10del (n.1803+10del) c.1848+10del (n.1848+10del) | |
2 | g.26480777G>T | CA2658238256 | OTOF | c.1803+9C>A (n.1803+9C>A) c.1848+9C>A (n.1848+9C>A) | gnomAD v4 |
2 | g.26480778G>A | CA1564178 | OTOF | c.1803+8C>T (n.1803+8C>T) c.1848+8C>T (n.1848+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480778G= | CA1239827686 | OTOF | c.1803+8C= (n.1803+8C=) c.1848+8C= (n.1848+8C=) | |
2 | g.26480779G= | CA1239827687 | OTOF | c.1803+7C= (n.1803+7C=) c.1848+7C= (n.1848+7C=) | |
2 | g.26480779G>T | CA1239827688 | OTOF | c.1803+7C>A (n.1803+7C>A) c.1848+7C>A (n.1848+7C>A) | dbSNP |
2 | g.26480780T= | CA1239827689 | OTOF | c.1803+6A= (n.1803+6A=) c.1848+6A= (n.1848+6A=) | |
2 | g.26480781C= | CA1239827692 | OTOF | c.1803+5G= (n.1803+5G=) c.1848+5G= (n.1848+5G=) | |
2 | g.26480781C>T | CA1239827693 | OTOF | c.1803+5G>A (n.1803+5G>A) c.1848+5G>A (n.1848+5G>A) | dbSNP gnomAD v4 |
2 | g.26480783_26480805dup | CA1239827691 | OTOF | c.1786_1803+5dup c.1831_1848+5dup | dbSNP gnomAD v4 |
2 | g.26480784A>C | CA346132514 | OTOF | c.1803+2T>G (n.1803+2T>G) c.1848+2T>G (n.1848+2T>G) | |
2 | g.26480784A>G | CA346132517 | OTOF | c.1803+2T>C (n.1803+2T>C) c.1848+2T>C (n.1848+2T>C) | |
2 | g.26480784A>T | CA346132519 | OTOF | c.1803+2T>A (n.1803+2T>A) c.1848+2T>A (n.1848+2T>A) | |
2 | g.26480784_26480785delinsAC | CA1239827694 | OTOF | c.1803+1_1803+2delinsGT (n.1803+1_1803+2delinsGT) c.1848+1_1848+2delinsGT (n.1848+1_1848+2delinsGT) | |
2 | g.26480785C>A | CA346132521 | OTOF | c.1803+1G>T (n.1803+1G>T) c.1848+1G>T (n.1848+1G>T) | |
2 | g.26480785C>G | CA346132523 | OTOF | c.1803+1G>C (n.1803+1G>C) c.1848+1G>C (n.1848+1G>C) | |
2 | g.26480785C>T | CA346132526 | OTOF | c.1803+1G>A (n.1803+1G>A) c.1848+1G>A (n.1848+1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.26480786del | CA767288499 | OTOF | c.1803+1del c.1848+1del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480786C>A | CA346132528 | OTOF | c.1803G>T (p.Glu601Asp) c.1848G>T (p.Glu616Asp) | |
2 | g.26480786C>G | CA346132530 | OTOF | c.1803G>C (p.Glu601Asp) c.1848G>C (p.Glu616Asp) | |
2 | g.26480786C>T | CA425205810 | OTOF | c.1803G>A (p.Glu601=) c.1848G>A (p.Glu616=) | gnomAD v4 |
2 | g.26480787T>A | CA346132533 | OTOF | c.1802A>T (p.Glu601Val) c.1847A>T (p.Glu616Val) | |
2 | g.26480787T>C | CA346132535 | OTOF | c.1802A>G (p.Glu601Gly) c.1847A>G (p.Glu616Gly) | |
2 | g.26480787T>G | CA346132536 | OTOF | c.1802A>C (p.Glu601Ala) c.1847A>C (p.Glu616Ala) | |
2 | g.26480788C>A | CA346132538 | OTOF | c.1801G>T (p.Glu601Ter) c.1846G>T (p.Glu616Ter) | ClinVar dbSNP |
2 | g.26480788C= | CA1239827696 | OTOF | c.1801G= (p.Glu601=) c.1846G= (p.Glu616=) | |
2 | g.26480788C>G | CA346132540 | OTOF | c.1801G>C (p.Glu601Gln) c.1846G>C (p.Glu616Gln) | |
2 | g.26480788C>T | CA346132542 | OTOF | c.1801G>A (p.Glu601Lys) c.1846G>A (p.Glu616Lys) | COSMIC |
2 | g.26480789C>A | CA425205818 | OTOF | c.1800G>T (p.Ser600=) c.1845G>T (p.Ser615=) | gnomAD v4 |
2 | g.26480789C= | CA1239827697 | OTOF | c.1800G= (p.Ser600=) c.1845G= (p.Ser615=) | |
2 | g.26480789C>G | CA425205820 | OTOF | c.1800G>C (p.Ser600=) c.1845G>C (p.Ser615=) | |
2 | g.26480789C>T | CA142764 | OTOF | c.1800G>A (p.Ser600=) c.1845G>A (p.Ser615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26480790G>A | CA1564179 | OTOF | c.1799C>T (p.Ser600Leu) c.1844C>T (p.Ser615Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480790G>C | CA346132548 | OTOF | c.1799C>G (p.Ser600Trp) c.1844C>G (p.Ser615Trp) | |
2 | g.26480790G= | CA1239827700 | OTOF | c.1799C= (p.Ser600=) c.1844C= (p.Ser615=) | |
2 | g.26480790G>T | CA346132551 | OTOF | c.1799C>A (p.Ser600Ter) c.1844C>A (p.Ser615Ter) | dbSNP gnomAD v4 |
2 | g.26480791A= | CA1239827702 | OTOF | c.1798T= (p.Ser600=) c.1843T= (p.Ser615=) | |
2 | g.26480791A>C | CA346132554 | OTOF | c.1798T>G (p.Ser600Ala) c.1843T>G (p.Ser615Ala) | |
2 | g.26480791A>G | CA346132556 | OTOF | c.1798T>C (p.Ser600Pro) c.1843T>C (p.Ser615Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480791A>T | CA346132558 | OTOF | c.1798T>A (p.Ser600Thr) c.1843T>A (p.Ser615Thr) | |
2 | g.26480792G>A | CA425205827 | OTOF | c.1797C>T (p.Ile599=) c.1842C>T (p.Ile614=) | |
2 | g.26480792G>C | CA346132560 | OTOF | c.1797C>G (p.Ile599Met) c.1842C>G (p.Ile614Met) | |
2 | g.26480792G>T | CA425205831 | OTOF | c.1797C>A (p.Ile599=) c.1842C>A (p.Ile614=) | |
2 | g.26480793A>C | CA346132568 | OTOF | c.1796T>G (p.Ile599Ser) c.1841T>G (p.Ile614Ser) | |
2 | g.26480793A>G | CA346132564 | OTOF | c.1796T>C (p.Ile599Thr) c.1841T>C (p.Ile614Thr) | |
2 | g.26480793A>T | CA346132567 | OTOF | c.1796T>A (p.Ile599Asn) c.1841T>A (p.Ile614Asn) | |
2 | g.26480794T>A | CA1564180 | OTOF | c.1795A>T (p.Ile599Phe) c.1840A>T (p.Ile614Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480794T>C | CA346132569 | OTOF | c.1795A>G (p.Ile599Val) c.1840A>G (p.Ile614Val) |