Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26480753_26480772delinsCCCTGGGGGACAGCACAGTG | CA1239827663 | OTOF | c.1803+14_1803+33delinsCACTGTGCTGTCCCCCAGGG (n.1803+14_1803+33delinsCACTGTGCTGTCCCCCAGGG) c.1848+14_1848+33delinsCACTGTGCTGTCCCCCAGGG (n.1848+14_1848+33delinsCACTGTGCTGTCCCCCAGGG) | |
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.26480757G>C | CA2576699675 | OTOF | c.1803+29C>G (n.1803+29C>G) c.1848+29C>G (n.1848+29C>G) | |
2 | g.26480757G>T | CA2658238242 | OTOF | c.1803+29C>A (n.1803+29C>A) c.1848+29C>A (n.1848+29C>A) | gnomAD v4 |
2 | g.26480761dup | CA2658238241 | OTOF | c.1803+29dup (n.1803+29dup) c.1848+29dup (n.1848+29dup) | gnomAD v4 |
2 | g.26480761del | CA2576699674 | OTOF | c.1803+29del (n.1803+29del) c.1848+29del (n.1848+29del) | gnomAD v4 |
2 | g.26480758G>A | CA1239827667 | OTOF | c.1803+28C>T (n.1803+28C>T) c.1848+28C>T (n.1848+28C>T) | dbSNP gnomAD v4 |
2 | g.26480758G= | CA1239827666 | OTOF | c.1803+28C= (n.1803+28C=) c.1848+28C= (n.1848+28C=) | |
2 | g.26480758G>T | CA2749240772 | OTOF | c.1803+28C>A (n.1803+28C>A) c.1848+28C>A (n.1848+28C>A) | |
2 | g.26480760G>T | CA2576699676 | OTOF | c.1803+26C>A (n.1803+26C>A) c.1848+26C>A (n.1848+26C>A) | gnomAD v4 |
2 | g.26480761G>A | CA2658238243 | OTOF | c.1803+25C>T (n.1803+25C>T) c.1848+25C>T (n.1848+25C>T) | gnomAD v4 |
2 | g.26480761G>T | CA2658238244 | OTOF | c.1803+25C>A (n.1803+25C>A) c.1848+25C>A (n.1848+25C>A) | gnomAD v4 |
2 | g.26480762A>G | CA2839537020 | OTOF | c.1803+24T>C (n.1803+24T>C) c.1848+24T>C (n.1848+24T>C) | |
2 | g.26480762A>T | CA2658238245 | OTOF | c.1803+24T>A (n.1803+24T>A) c.1848+24T>A (n.1848+24T>A) | gnomAD v4 |
2 | g.26480763C>A | CA531761989 | OTOF | c.1803+23G>T (n.1803+23G>T) c.1848+23G>T (n.1848+23G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480763C= | CA1239827668 | OTOF | c.1803+23G= (n.1803+23G=) c.1848+23G= (n.1848+23G=) | |
2 | g.26480763C>T | CA2576699677 | OTOF | c.1803+23G>A (n.1803+23G>A) c.1848+23G>A (n.1848+23G>A) | gnomAD v4 |
2 | g.26480765G>A | CA767288481 | OTOF | c.1803+21C>T (n.1803+21C>T) c.1848+21C>T (n.1848+21C>T) | dbSNP gnomAD v4 |
2 | g.26480765G= | CA1239827670 | OTOF | c.1803+21C= (n.1803+21C=) c.1848+21C= (n.1848+21C=) | |
2 | g.26480765G>T | CA2658238247 | OTOF | c.1803+21C>A (n.1803+21C>A) c.1848+21C>A (n.1848+21C>A) | gnomAD v4 |
2 | g.26480766C= | CA1239827671 | OTOF | c.1803+20G= (n.1803+20G=) c.1848+20G= (n.1848+20G=) | |
2 | g.26480766C>T | CA1239827672 | OTOF | c.1803+20G>A (n.1803+20G>A) c.1848+20G>A (n.1848+20G>A) | dbSNP gnomAD v4 |
2 | g.26480767A>C | CA2576699678 | OTOF | c.1803+19T>G (n.1803+19T>G) c.1848+19T>G (n.1848+19T>G) | |
2 | g.26480767A>G | CA2658238249 | OTOF | c.1803+19T>C (n.1803+19T>C) c.1848+19T>C (n.1848+19T>C) | gnomAD v4 |
2 | g.26480768C>G | CA2576699679 | OTOF | c.1803+18G>C (n.1803+18G>C) c.1848+18G>C (n.1848+18G>C) | gnomAD v4 |
2 | g.26480769A= | CA1239827673 | OTOF | c.1803+17T= (n.1803+17T=) c.1848+17T= (n.1848+17T=) | |
2 | g.26480769A>G | CA1239827674 | OTOF | c.1803+17T>C (n.1803+17T>C) c.1848+17T>C (n.1848+17T>C) | dbSNP gnomAD v4 |
2 | g.26480770G>A | CA2658238250 | OTOF | c.1803+16C>T (n.1803+16C>T) c.1848+16C>T (n.1848+16C>T) | gnomAD v4 |
2 | g.26480771T>G | CA2576699680 | OTOF | c.1803+15A>C (n.1803+15A>C) c.1848+15A>C (n.1848+15A>C) | |
2 | g.26480772G>A | CA1564175 | OTOF | c.1803+14C>T (n.1803+14C>T) c.1848+14C>T (n.1848+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480772G= | CA1239827676 | OTOF | c.1803+14C= (n.1803+14C=) c.1848+14C= (n.1848+14C=) | |
2 | g.26480772G>T | CA2658238251 | OTOF | c.1803+14C>A (n.1803+14C>A) c.1848+14C>A (n.1848+14C>A) | gnomAD v4 |
2 | g.26480773C= | CA1239827678 | OTOF | c.1803+13G= (n.1803+13G=) c.1848+13G= (n.1848+13G=) | |
2 | g.26480773C>T | CA10615094 | OTOF | c.1803+13G>A (n.1803+13G>A) c.1848+13G>A (n.1848+13G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.26480775T>C | CA44400958 | OTOF | c.1803+11A>G (n.1803+11A>G) c.1848+11A>G (n.1848+11A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.26480775T= | CA1239827680 | OTOF | c.1803+11A= (n.1803+11A=) c.1848+11A= (n.1848+11A=) | |
2 | g.26480776G>A | CA1564177 | OTOF | c.1803+10C>T (n.1803+10C>T) c.1848+10C>T (n.1848+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480776G= | CA1239827683 | OTOF | c.1803+10C= (n.1803+10C=) c.1848+10C= (n.1848+10C=) | |
2 | g.26480776G>T | CA2576699682 | OTOF | c.1803+10C>A (n.1803+10C>A) c.1848+10C>A (n.1848+10C>A) | |
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>A | CA2840285705 | OTOF | c.1803+5G>T (n.1803+5G>T) c.1848+5G>T (n.1848+5G>T) | |
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) | |
2 | g.26480794T>G | CA346132570 | OTOF | c.1795A>C (p.Ile599Leu) c.1840A>C (p.Ile614Leu) | gnomAD v4 |
2 | g.26480794T= | CA1239827703 | OTOF | c.1795A= (p.Ile599=) c.1840A= (p.Ile614=) | |
2 | g.26480795G>A | CA425205834 | OTOF | c.1794C>T (p.Pro598=) c.1839C>T (p.Pro613=) | gnomAD v4 |
2 | g.26480795G>C | CA425205835 | OTOF | c.1794C>G (p.Pro598=) c.1839C>G (p.Pro613=) | gnomAD v4 |
2 | g.26480795G>T | CA425205836 | OTOF | c.1794C>A (p.Pro598=) c.1839C>A (p.Pro613=) | gnomAD v4 |
2 | g.26480796G>A | CA346132573 | OTOF | c.1793C>T (p.Pro598Leu) c.1838C>T (p.Pro613Leu) | |
2 | g.26480796G>C | CA346132575 | OTOF | c.1793C>G (p.Pro598Arg) c.1838C>G (p.Pro613Arg) | |
2 | g.26480796G>T | CA346132577 | OTOF | c.1793C>A (p.Pro598His) c.1838C>A (p.Pro613His) | |
2 | g.26480797G>A | CA346132580 | OTOF | c.1792C>T (p.Pro598Ser) c.1837C>T (p.Pro613Ser) | gnomAD v4 |
2 | g.26480797G>C | CA346132585 | OTOF | c.1792C>G (p.Pro598Ala) c.1837C>G (p.Pro613Ala) | |
2 | g.26480797G= | CA1239827705 | OTOF | c.1792C= (p.Pro598=) c.1837C= (p.Pro613=) | |
2 | g.26480797G>T | CA346132583 | OTOF | c.1792C>A (p.Pro598Thr) c.1837C>A (p.Pro613Thr) | dbSNP |
2 | g.26480798C>A | CA425205845 | OTOF | c.1791G>T (p.Thr597=) c.1836G>T (p.Thr612=) | ClinVar gnomAD v4 |
2 | g.26480798C= | CA1239827707 | OTOF | c.1791G= (p.Thr597=) c.1836G= (p.Thr612=) | |
2 | g.26480798C>G | CA425205846 | OTOF | c.1791G>C (p.Thr597=) c.1836G>C (p.Thr612=) | |
2 | g.26480798C>T | CA1564181 | OTOF | c.1791G>A (p.Thr597=) c.1836G>A (p.Thr612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480799G>A | CA1564182 | OTOF | c.1790C>T (p.Thr597Met) c.1835C>T (p.Thr612Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480799G>C | CA346132596 | OTOF | c.1790C>G (p.Thr597Arg) c.1835C>G (p.Thr612Arg) | |
2 | g.26480799G= | CA1239827709 | OTOF | c.1790C= (p.Thr597=) c.1835C= (p.Thr612=) | |
2 | g.26480799G>T | CA346132602 | OTOF | c.1790C>A (p.Thr597Lys) c.1835C>A (p.Thr612Lys) | |
2 | g.26480800T>A | CA346132606 | OTOF | c.1789A>T (p.Thr597Ser) c.1834A>T (p.Thr612Ser) | |
2 | g.26480800T>C | CA346132613 | OTOF | c.1789A>G (p.Thr597Ala) c.1834A>G (p.Thr612Ala) | dbSNP |
2 | g.26480800T>G | CA346132610 | OTOF | c.1789A>C (p.Thr597Pro) c.1834A>C (p.Thr612Pro) | |
2 | g.26480800T= | CA1239827710 | OTOF | c.1789A= (p.Thr597=) c.1834A= (p.Thr612=) | |
2 | g.26480801G>A | CA1564183 | OTOF | c.1788C>T (p.Ala596=) c.1833C>T (p.Ala611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480801G>C | CA425205853 | OTOF | c.1788C>G (p.Ala596=) c.1833C>G (p.Ala611=) | |
2 | g.26480801G= | CA1239827712 | OTOF | c.1788C= (p.Ala596=) c.1833C= (p.Ala611=) | |
2 | g.26480801G>T | CA425205854 | OTOF | c.1788C>A (p.Ala596=) c.1833C>A (p.Ala611=) | |
2 | g.26480802G>A | CA346132620 | OTOF | c.1787C>T (p.Ala596Val) c.1832C>T (p.Ala611Val) | |
2 | g.26480802G>C | CA346132623 | OTOF | c.1787C>G (p.Ala596Gly) c.1832C>G (p.Ala611Gly) | |
2 | g.26480802G>T | CA346132628 | OTOF | c.1787C>A (p.Ala596Asp) c.1832C>A (p.Ala611Asp) | gnomAD v4 |
2 | g.26480803C>A | CA346132632 | OTOF | c.1786G>T (p.Ala596Ser) c.1831G>T (p.Ala611Ser) | gnomAD v4 |
2 | g.26480803C>G | CA346132636 | OTOF | c.1786G>C (p.Ala596Pro) c.1831G>C (p.Ala611Pro) | |
2 | g.26480803C>T | CA346132641 | OTOF | c.1786G>A (p.Ala596Thr) c.1831G>A (p.Ala611Thr) | gnomAD v4 |
2 | g.26480804C>A | CA346132644 | OTOF | c.1785G>T (p.Gln595His) c.1830G>T (p.Gln610His) | |
2 | g.26480804C>G | CA346132645 | OTOF | c.1785G>C (p.Gln595His) c.1830G>C (p.Gln610His) | |
2 | g.26480804C>T | CA425205858 | OTOF | c.1785G>A (p.Gln595=) c.1830G>A (p.Gln610=) | |
2 | g.26480805T>A | CA346132647 | OTOF | c.1784A>T (p.Gln595Leu) c.1829A>T (p.Gln610Leu) | |
2 | g.26480805T>C | CA346132649 | OTOF | c.1784A>G (p.Gln595Arg) c.1829A>G (p.Gln610Arg) | COSMIC |
2 | g.26480805T>G | CA346132653 | OTOF | c.1784A>C (p.Gln595Pro) c.1829A>C (p.Gln610Pro) | |
2 | g.26480806G>A | CA346132657 | OTOF | c.1783C>T (p.Gln595Ter) c.1828C>T (p.Gln610Ter) | |
2 | g.26480806G>C | CA346132664 | OTOF | c.1783C>G (p.Gln595Glu) c.1828C>G (p.Gln610Glu) | |
2 | g.26480806G>T | CA346132660 | OTOF | c.1783C>A (p.Gln595Lys) c.1828C>A (p.Gln610Lys) | |
2 | g.26480807C>A | CA346132667 | OTOF | c.1782G>T (p.Glu594Asp) c.1827G>T (p.Glu609Asp) | |
2 | g.26480807C>G | CA346132669 | OTOF | c.1782G>C (p.Glu594Asp) c.1827G>C (p.Glu609Asp) | |
2 | g.26480807C>T | CA425205861 | OTOF | c.1782G>A (p.Glu594=) c.1827G>A (p.Glu609=) | ClinVar gnomAD v4 |
2 | g.26480808T>A | CA346132673 | OTOF | c.1781A>T (p.Glu594Val) c.1826A>T (p.Glu609Val) | |
2 | g.26480808T>C | CA346132676 | OTOF | c.1781A>G (p.Glu594Gly) c.1826A>G (p.Glu609Gly) | gnomAD v4 |
2 | g.26480808T>G | CA346132679 | OTOF | c.1781A>C (p.Glu594Ala) c.1826A>C (p.Glu609Ala) | |
2 | g.26480809C>A | CA346132683 | OTOF | c.1780G>T (p.Glu594Ter) c.1825G>T (p.Glu609Ter) | |
2 | g.26480809C= | CA1239827714 | OTOF | c.1780G= (p.Glu594=) c.1825G= (p.Glu609=) | |
2 | g.26480809C>G | CA346132686 | OTOF | c.1780G>C (p.Glu594Gln) c.1825G>C (p.Glu609Gln) | |
2 | g.26480809C>T | CA345096 | OTOF | c.1780G>A (p.Glu594Lys) c.1825G>A (p.Glu609Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.26480810C>A | CA425205866 | OTOF | c.1779G>T (p.Val593=) c.1824G>T (p.Val608=) | |
2 | g.26480810C= | CA1239827717 | OTOF | c.1779G= (p.Val593=) c.1824G= (p.Val608=) | |
2 | g.26480810C>G | CA425205868 | OTOF | c.1779G>C (p.Val593=) c.1824G>C (p.Val608=) | |
2 | g.26480810C>T | CA1564184 | OTOF | c.1779G>A (p.Val593=) c.1824G>A (p.Val608=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480811A= | CA1239827718 | OTOF | c.1778T= (p.Val593=) c.1823T= (p.Val608=) | |
2 | g.26480811A>C | CA346132701 | OTOF | c.1778T>G (p.Val593Gly) c.1823T>G (p.Val608Gly) | |
2 | g.26480811A>G | CA346132707 | OTOF | c.1778T>C (p.Val593Ala) c.1823T>C (p.Val608Ala) | |
2 | g.26480811A>T | CA346132711 | OTOF | c.1778T>A (p.Val593Glu) c.1823T>A (p.Val608Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480812C>A | CA346132724 | OTOF | c.1777G>T (p.Val593Leu) c.1822G>T (p.Val608Leu) | |
2 | g.26480812C>G | CA346132720 | OTOF | c.1777G>C (p.Val593Leu) c.1822G>C (p.Val608Leu) | |
2 | g.26480812C>T | CA346132716 | OTOF | c.1777G>A (p.Val593Met) c.1822G>A (p.Val608Met) | gnomAD v4 |
2 | g.26480813C>A | CA346132729 | OTOF | c.1776G>T (p.Gln592His) c.1821G>T (p.Gln607His) | |
2 | g.26480813C= | CA1239827720 | OTOF | c.1776G= (p.Gln592=) c.1821G= (p.Gln607=) | |
2 | g.26480813C>G | CA346132732 | OTOF | c.1776G>C (p.Gln592His) c.1821G>C (p.Gln607His) | |
2 | g.26480813C>T | CA425205873 | OTOF | c.1776G>A (p.Gln592=) c.1821G>A (p.Gln607=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480814T>A | CA346132738 | OTOF | c.1775A>T (p.Gln592Leu) c.1820A>T (p.Gln607Leu) | |
2 | g.26480814T>C | CA346132755 | OTOF | c.1775A>G (p.Gln592Arg) c.1820A>G (p.Gln607Arg) | |
2 | g.26480814T>G | CA346132759 | OTOF | c.1775A>C (p.Gln592Pro) c.1820A>C (p.Gln607Pro) | |
2 | g.26480815G>A | CA346132762 | OTOF | c.1774C>T (p.Gln592Ter) c.1819C>T (p.Gln607Ter) | gnomAD v4 |
2 | g.26480815G>C | CA346132765 | OTOF | c.1774C>G (p.Gln592Glu) c.1819C>G (p.Gln607Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480815G= | CA1239827721 | OTOF | c.1774C= (p.Gln592=) c.1819C= (p.Gln607=) | |
2 | g.26480815G>T | CA346132766 | OTOF | c.1774C>A (p.Gln592Lys) c.1819C>A (p.Gln607Lys) | |
2 | g.26480816C>A | CA1564185 | OTOF | c.1773G>T (p.Val591=) c.1818G>T (p.Val606=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480816C= | CA1239827723 | OTOF | c.1773G= (p.Val591=) c.1818G= (p.Val606=) | |
2 | g.26480816C>G | CA425205876 | OTOF | c.1773G>C (p.Val591=) c.1818G>C (p.Val606=) | |
2 | g.26480816C>T | CA425205878 | OTOF | c.1773G>A (p.Val591=) c.1818G>A (p.Val606=) | gnomAD v4 |
2 | g.26480817A>C | CA346132770 | OTOF | c.1772T>G (p.Val591Gly) c.1817T>G (p.Val606Gly) | |
2 | g.26480817A>G | CA346132773 | OTOF | c.1772T>C (p.Val591Ala) c.1817T>C (p.Val606Ala) | |
2 | g.26480817A>T | CA346132776 | OTOF | c.1772T>A (p.Val591Glu) c.1817T>A (p.Val606Glu) | gnomAD v4 |
2 | g.26480818C>A | CA346132788 | OTOF | c.1771G>T (p.Val591Leu) c.1816G>T (p.Val606Leu) | dbSNP |
2 | g.26480818C= | CA1239827725 | OTOF | c.1771G= (p.Val591=) c.1816G= (p.Val606=) | |
2 | g.26480818C>G | CA346132782 | OTOF | c.1771G>C (p.Val591Leu) c.1816G>C (p.Val606Leu) | |
2 | g.26480818C>T | CA346132783 | OTOF | c.1771G>A (p.Val591Met) c.1816G>A (p.Val606Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480819C>A | CA346132793 | OTOF | c.1770G>T (p.Glu590Asp) c.1815G>T (p.Glu605Asp) | |
2 | g.26480819C>G | CA346132795 | OTOF | c.1770G>C (p.Glu590Asp) c.1815G>C (p.Glu605Asp) | |
2 | g.26480819C>T | CA425205882 | OTOF | c.1770G>A (p.Glu590=) c.1815G>A (p.Glu605=) | |
2 | g.26480820T>A | CA346132800 | OTOF | c.1769A>T (p.Glu590Val) c.1814A>T (p.Glu605Val) | |
2 | g.26480820T>C | CA346132804 | OTOF | c.1769A>G (p.Glu590Gly) c.1814A>G (p.Glu605Gly) | |
2 | g.26480820T>G | CA346132806 | OTOF | c.1769A>C (p.Glu590Ala) c.1814A>C (p.Glu605Ala) | |
2 | g.26480821C>A | CA346132812 | OTOF | c.1768G>T (p.Glu590Ter) c.1813G>T (p.Glu605Ter) | |
2 | g.26480821C= | CA1239827728 | OTOF | c.1768G= (p.Glu590=) c.1813G= (p.Glu605=) | |
2 | g.26480821C>G | CA346132814 | OTOF | c.1768G>C (p.Glu590Gln) c.1813G>C (p.Glu605Gln) | dbSNP |
2 | g.26480821C>T | CA1564186 | OTOF | c.1768G>A (p.Glu590Lys) c.1813G>A (p.Glu605Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480822T>A | CA425205885 | OTOF | c.1767A>T (p.Thr589=) c.1812A>T (p.Thr604=) | |
2 | g.26480822T>C | CA425205886 | OTOF | c.1767A>G (p.Thr589=) c.1812A>G (p.Thr604=) | |
2 | g.26480822T>G | CA425205887 | OTOF | c.1767A>C (p.Thr589=) c.1812A>C (p.Thr604=) | dbSNP gnomAD v4 |
2 | g.26480822T= | CA1239827729 | OTOF | c.1767A= (p.Thr589=) c.1812A= (p.Thr604=) | |
2 | g.26480823G>A | CA346132827 | OTOF | c.1766C>T (p.Thr589Ile) c.1811C>T (p.Thr604Ile) | |
2 | g.26480823G>C | CA346132831 | OTOF | c.1766C>G (p.Thr589Arg) c.1811C>G (p.Thr604Arg) | |
2 | g.26480823G>T | CA346132835 | OTOF | c.1766C>A (p.Thr589Lys) c.1811C>A (p.Thr604Lys) | |
2 | g.26480824T>A | CA346132843 | OTOF | c.1765A>T (p.Thr589Ser) c.1810A>T (p.Thr604Ser) | |
2 | g.26480824T>C | CA346132846 | OTOF | c.1765A>G (p.Thr589Ala) c.1810A>G (p.Thr604Ala) | dbSNP COSMIC |
2 | g.26480824T>G | CA346132851 | OTOF | c.1765A>C (p.Thr589Pro) c.1810A>C (p.Thr604Pro) | |
2 | g.26480824T= | CA1239827731 | OTOF | c.1765A= (p.Thr589=) c.1810A= (p.Thr604=) | |
2 | g.26480825G>A | CA425205889 | OTOF | c.1764C>T (p.Ser588=) c.1809C>T (p.Ser603=) | |
2 | g.26480825G>C | CA425205892 | OTOF | c.1764C>G (p.Ser588=) c.1809C>G (p.Ser603=) | |
2 | g.26480825G>T | CA425205891 | OTOF | c.1764C>A (p.Ser588=) c.1809C>A (p.Ser603=) | COSMIC |
2 | g.26480826G>A | CA346132865 | OTOF | c.1763C>T (p.Ser588Phe) c.1808C>T (p.Ser603Phe) | dbSNP gnomAD v4 |
2 | g.26480826G>C | CA346132860 | OTOF | c.1763C>G (p.Ser588Cys) c.1808C>G (p.Ser603Cys) | |
2 | g.26480826G= | CA1239827733 | OTOF | c.1763C= (p.Ser588=) c.1808C= (p.Ser603=) | |
2 | g.26480826G>T | CA346132856 | OTOF | c.1763C>A (p.Ser588Tyr) c.1808C>A (p.Ser603Tyr) | |
2 | g.26480827A>C | CA346132870 | OTOF | c.1762T>G (p.Ser588Ala) c.1807T>G (p.Ser603Ala) | |
2 | g.26480827A>G | CA346132872 | OTOF | c.1762T>C (p.Ser588Pro) c.1807T>C (p.Ser603Pro) | |
2 | g.26480827A>T | CA346132875 | OTOF | c.1762T>A (p.Ser588Thr) c.1807T>A (p.Ser603Thr) | gnomAD v4 |
2 | g.26480828G>A | CA425205897 | OTOF | c.1761C>T (p.Ser587=) c.1806C>T (p.Ser602=) | |
2 | g.26480828G>C | CA346132880 | OTOF | c.1761C>G (p.Ser587Arg) c.1806C>G (p.Ser602Arg) | |
2 | g.26480828G= | CA1239827735 | OTOF | c.1761C= (p.Ser587=) c.1806C= (p.Ser602=) | |
2 | g.26480828G>T | CA346132884 | OTOF | c.1761C>A (p.Ser587Arg) c.1806C>A (p.Ser602Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480829C>A | CA346132891 | OTOF | c.1760G>T (p.Ser587Ile) c.1805G>T (p.Ser602Ile) | |
2 | g.26480829C= | CA1239827737 | OTOF | c.1760G= (p.Ser587=) c.1805G= (p.Ser602=) | |
2 | g.26480829C>G | CA346132895 | OTOF | c.1760G>C (p.Ser587Thr) c.1805G>C (p.Ser602Thr) | dbSNP |
2 | g.26480829C>T | CA346132898 | OTOF | c.1760G>A (p.Ser587Asn) c.1805G>A (p.Ser602Asn) | gnomAD v4 |
2 | g.26480830T>A | CA346132906 | OTOF | c.1759A>T (p.Ser587Cys) c.1804A>T (p.Ser602Cys) | dbSNP gnomAD v4 |
2 | g.26480830T>C | CA346132909 | OTOF | c.1759A>G (p.Ser587Gly) c.1804A>G (p.Ser602Gly) | |
2 | g.26480830T>G | CA346132928 | OTOF | c.1759A>C (p.Ser587Arg) c.1804A>C (p.Ser602Arg) | |
2 | g.26480830T= | CA1239827739 | OTOF | c.1759A= (p.Ser587=) c.1804A= (p.Ser602=) | |
2 | g.26480831G>A | CA425205899 | OTOF | c.1758C>T (p.Thr586=) c.1803C>T (p.Thr601=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480831G>C | CA425205900 | OTOF | c.1758C>G (p.Thr586=) c.1803C>G (p.Thr601=) | |
2 | g.26480831G= | CA1239827741 | OTOF | c.1758C= (p.Thr586=) c.1803C= (p.Thr601=) | |
2 | g.26480831G>T | CA425205902 | OTOF | c.1758C>A (p.Thr586=) c.1803C>A (p.Thr601=) | |
2 | g.26480832G>A | CA346132933 | OTOF | c.1757C>T (p.Thr586Ile) c.1802C>T (p.Thr601Ile) | |
2 | g.26480832G>C | CA346132936 | OTOF | c.1757C>G (p.Thr586Ser) c.1802C>G (p.Thr601Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480832G= | CA1239827742 | OTOF | c.1757C= (p.Thr586=) c.1802C= (p.Thr601=) | |
2 | g.26480832G>T | CA346132939 | OTOF | c.1757C>A (p.Thr586Asn) c.1802C>A (p.Thr601Asn) | gnomAD v4 |
2 | g.26480833T>A | CA346132948 | OTOF | c.1756A>T (p.Thr586Ser) c.1801A>T (p.Thr601Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480833T>C | CA346132950 | OTOF | c.1756A>G (p.Thr586Ala) c.1801A>G (p.Thr601Ala) | dbSNP gnomAD v4 |
2 | g.26480833T>G | CA346132944 | OTOF | c.1756A>C (p.Thr586Pro) c.1801A>C (p.Thr601Pro) | gnomAD v4 |
2 | g.26480833T= | CA1239827743 | OTOF | c.1756A= (p.Thr586=) c.1801A= (p.Thr601=) | |
2 | g.26480834G>A | CA425205906 | OTOF | c.1755C>T (p.Leu585=) c.1800C>T (p.Leu600=) | |
2 | g.26480834G>C | CA425205907 | OTOF | c.1755C>G (p.Leu585=) c.1800C>G (p.Leu600=) | |
2 | g.26480834G>T | CA425205909 | OTOF | c.1755C>A (p.Leu585=) c.1800C>A (p.Leu600=) | |
2 | g.26480835A>C | CA346132954 | OTOF | c.1754T>G (p.Leu585Arg) c.1799T>G (p.Leu600Arg) | |
2 | g.26480835A>G | CA346132956 | OTOF | c.1754T>C (p.Leu585Pro) c.1799T>C (p.Leu600Pro) | |
2 | g.26480835A>T | CA346132959 | OTOF | c.1754T>A (p.Leu585His) c.1799T>A (p.Leu600His) | |
2 | g.26480836G>A | CA346132962 | OTOF | c.1753C>T (p.Leu585Phe) c.1798C>T (p.Leu600Phe) | |
2 | g.26480836G>C | CA44400977 | OTOF | c.1753C>G (p.Leu585Val) c.1798C>G (p.Leu600Val) | dbSNP |
2 | g.26480836G= | CA1239827745 | OTOF | c.1753C= (p.Leu585=) c.1798C= (p.Leu600=) | |
2 | g.26480836G>T | CA346132966 | OTOF | c.1753C>A (p.Leu585Ile) c.1798C>A (p.Leu600Ile) | |
2 | g.26480837C>A | CA346132971 | OTOF | c.1752G>T (p.Glu584Asp) c.1797G>T (p.Glu599Asp) | |
2 | g.26480837C>G | CA346132969 | OTOF | c.1752G>C (p.Glu584Asp) c.1797G>C (p.Glu599Asp) | |
2 | g.26480837C>T | CA425205913 | OTOF | c.1752G>A (p.Glu584=) c.1797G>A (p.Glu599=) | |
2 | g.26480838T>A | CA346132981 | OTOF | c.1751A>T (p.Glu584Val) c.1796A>T (p.Glu599Val) | |
2 | g.26480838T>C | CA346132984 | OTOF | c.1751A>G (p.Glu584Gly) c.1796A>G (p.Glu599Gly) | |
2 | g.26480838T>G | CA346132986 | OTOF | c.1751A>C (p.Glu584Ala) c.1796A>C (p.Glu599Ala) | |
2 | g.26480839C>A | CA346132989 | OTOF | c.1750G>T (p.Glu584Ter) c.1795G>T (p.Glu599Ter) | |
2 | g.26480839C= | CA1239827746 | OTOF | c.1750G= (p.Glu584=) c.1795G= (p.Glu599=) | |
2 | g.26480839C>G | CA346132991 | OTOF | c.1750G>C (p.Glu584Gln) c.1795G>C (p.Glu599Gln) | |
2 | g.26480839C>T | CA1564187 | OTOF | c.1750G>A (p.Glu584Lys) c.1795G>A (p.Glu599Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480840A>C | CA425205918 | OTOF | c.1749T>G (p.Pro583=) c.1794T>G (p.Pro598=) | |
2 | g.26480840A>G | CA425205919 | OTOF | c.1749T>C (p.Pro583=) c.1794T>C (p.Pro598=) | gnomAD v4 |
2 | g.26480840A>T | CA425205920 | OTOF | c.1749T>A (p.Pro583=) c.1794T>A (p.Pro598=) | |
2 | g.26480841G>A | CA346132996 | OTOF | c.1748C>T (p.Pro583Leu) c.1793C>T (p.Pro598Leu) | |
2 | g.26480841G>C | CA346133001 | OTOF | c.1748C>G (p.Pro583Arg) c.1793C>G (p.Pro598Arg) | |
2 | g.26480841G>T | CA346132999 | OTOF | c.1748C>A (p.Pro583His) c.1793C>A (p.Pro598His) | gnomAD v4 |
2 | g.26480842G>A | CA346133005 | OTOF | c.1747C>T (p.Pro583Ser) c.1792C>T (p.Pro598Ser) | COSMIC |
2 | g.26480842G>C | CA1564188 | OTOF | c.1747C>G (p.Pro583Ala) c.1792C>G (p.Pro598Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480842G= | CA1239827748 | OTOF | c.1747C= (p.Pro583=) c.1792C= (p.Pro598=) | |
2 | g.26480842G>T | CA346133007 | OTOF | c.1747C>A (p.Pro583Thr) c.1792C>A (p.Pro598Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480843G>A | CA425205924 | OTOF | c.1746C>T (p.Asn582=) c.1791C>T (p.Asn597=) | ClinVar |
2 | g.26480843G>C | CA346133008 | OTOF | c.1746C>G (p.Asn582Lys) c.1791C>G (p.Asn597Lys) | |
2 | g.26480843G>T | CA346133009 | OTOF | c.1746C>A (p.Asn582Lys) c.1791C>A (p.Asn597Lys) | |
2 | g.26480844T>A | CA346133011 | OTOF | c.1745A>T (p.Asn582Ile) c.1790A>T (p.Asn597Ile) | |
2 | g.26480844T>C | CA346133014 | OTOF | c.1745A>G (p.Asn582Ser) c.1790A>G (p.Asn597Ser) | gnomAD v4 |
2 | g.26480844T>G | CA346133016 | OTOF | c.1745A>C (p.Asn582Thr) c.1790A>C (p.Asn597Thr) | |
2 | g.26480845T>A | CA346133020 | OTOF | c.1744A>T (p.Asn582Tyr) c.1789A>T (p.Asn597Tyr) | |
2 | g.26480845T>C | CA346133022 | OTOF | c.1744A>G (p.Asn582Asp) c.1789A>G (p.Asn597Asp) | |
2 | g.26480845T>G | CA346133024 | OTOF | c.1744A>C (p.Asn582His) c.1789A>C (p.Asn597His) | |
2 | g.26480846G>A | CA425205929 | OTOF | c.1743C>T (p.Ser581=) c.1788C>T (p.Ser596=) | |
2 | g.26480846G>C | CA425205930 | OTOF | c.1743C>G (p.Ser581=) c.1788C>G (p.Ser596=) | |
2 | g.26480846G>T | CA425205931 | OTOF | c.1743C>A (p.Ser581=) c.1788C>A (p.Ser596=) | |
2 | g.26480847G>A | CA346133028 | OTOF | c.1742C>T (p.Ser581Phe) c.1787C>T (p.Ser596Phe) | |
2 | g.26480847G>C | CA346133033 | OTOF | c.1742C>G (p.Ser581Cys) c.1787C>G (p.Ser596Cys) | dbSNP gnomAD v4 |
2 | g.26480847G= | CA1239827750 | OTOF | c.1742C= (p.Ser581=) c.1787C= (p.Ser596=) | |
2 | g.26480847G>T | CA346133030 | OTOF | c.1742C>A (p.Ser581Tyr) c.1787C>A (p.Ser596Tyr) | |
2 | g.26480848A>C | CA346133035 | OTOF | c.1741T>G (p.Ser581Ala) c.1786T>G (p.Ser596Ala) | |
2 | g.26480848A>G | CA346133039 | OTOF | c.1741T>C (p.Ser581Pro) c.1786T>C (p.Ser596Pro) | |
2 | g.26480848A>T | CA346133037 | OTOF | c.1741T>A (p.Ser581Thr) c.1786T>A (p.Ser596Thr) | |
2 | g.26480848_26480849delinsAG | CA1239827753 | OTOF | c.1740_1741delinsCT (p.Thr580=) c.1785_1786delinsCT (p.Thr595=) | |
2 | g.26480849G>A | CA425205933 | OTOF | c.1740C>T (p.Thr580=) c.1785C>T (p.Thr595=) | |
2 | g.26480849G>C | CA425205934 | OTOF | c.1740C>G (p.Thr580=) c.1785C>G (p.Thr595=) | ClinVar |
2 | g.26480849G>T | CA425205935 | OTOF | c.1740C>A (p.Thr580=) c.1785C>A (p.Thr595=) | |
2 | g.26480850del | CA345095 | OTOF | c.1740del (p.Ser581ProfsTer?) c.1785del (p.Ser596ProfsTer?) | ClinVar dbSNP |
2 | g.26480850G>A | CA346133043 | OTOF | c.1739C>T (p.Thr580Ile) c.1784C>T (p.Thr595Ile) | |
2 | g.26480850G>C | CA346133045 | OTOF | c.1739C>G (p.Thr580Ser) c.1784C>G (p.Thr595Ser) | gnomAD v4 |
2 | g.26480850G>T | CA346133048 | OTOF | c.1739C>A (p.Thr580Asn) c.1784C>A (p.Thr595Asn) | |
2 | g.26480851T>A | CA346133051 | OTOF | c.1738A>T (p.Thr580Ser) c.1783A>T (p.Thr595Ser) | |
2 | g.26480851T>C | CA346133053 | OTOF | c.1738A>G (p.Thr580Ala) c.1783A>G (p.Thr595Ala) | |
2 | g.26480851T>G | CA346133055 | OTOF | c.1738A>C (p.Thr580Pro) c.1783A>C (p.Thr595Pro) | dbSNP |
2 | g.26480851T= | CA1239827755 | OTOF | c.1738A= (p.Thr580=) c.1783A= (p.Thr595=) | |
2 | g.26480852G>A | CA425205936 | OTOF | c.1737C>T (p.Asp579=) c.1782C>T (p.Asp594=) | |
2 | g.26480852G>C | CA346133058 | OTOF | c.1737C>G (p.Asp579Glu) c.1782C>G (p.Asp594Glu) | |
2 | g.26480852G>T | CA346133060 | OTOF | c.1737C>A (p.Asp579Glu) c.1782C>A (p.Asp594Glu) | |
2 | g.26480853T>A | CA346133065 | OTOF | c.1736A>T (p.Asp579Val) c.1781A>T (p.Asp594Val) | dbSNP |
2 | g.26480853T>C | CA346133067 | OTOF | c.1736A>G (p.Asp579Gly) c.1781A>G (p.Asp594Gly) | |
2 | g.26480853T>G | CA346133070 | OTOF | c.1736A>C (p.Asp579Ala) c.1781A>C (p.Asp594Ala) | |
2 | g.26480853T= | CA1239827756 | OTOF | c.1736A= (p.Asp579=) c.1781A= (p.Asp594=) | |
2 | g.26480854C>A | CA346133072 | OTOF | c.1735G>T (p.Asp579Tyr) c.1780G>T (p.Asp594Tyr) | |
2 | g.26480854C>G | CA346133077 | OTOF | c.1735G>C (p.Asp579His) c.1780G>C (p.Asp594His) | gnomAD v4 |
2 | g.26480854C>T | CA346133074 | OTOF | c.1735G>A (p.Asp579Asn) c.1780G>A (p.Asp594Asn) | |
2 | g.26480855T>A | CA425205941 | OTOF | c.1734A>T (p.Val578=) c.1779A>T (p.Val593=) | |
2 | g.26480855T>C | CA425205942 | OTOF | c.1734A>G (p.Val578=) c.1779A>G (p.Val593=) | |
2 | g.26480855T>G | CA425205943 | OTOF | c.1734A>C (p.Val578=) c.1779A>C (p.Val593=) | |
2 | g.26480856A= | CA1239827757 | OTOF | c.1733T= (p.Val578=) c.1778T= (p.Val593=) | |
2 | g.26480856A>C | CA346133079 | OTOF | c.1733T>G (p.Val578Gly) c.1778T>G (p.Val593Gly) | |
2 | g.26480856A>G | CA346133080 | OTOF | c.1733T>C (p.Val578Ala) c.1778T>C (p.Val593Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480856A>T | CA346133081 | OTOF | c.1733T>A (p.Val578Glu) c.1778T>A (p.Val593Glu) | |
2 | g.26480857C>A | CA346133083 | OTOF | c.1732G>T (p.Val578Leu) c.1777G>T (p.Val593Leu) | |
2 | g.26480857C= | CA1239827759 | OTOF | c.1732G= (p.Val578=) c.1777G= (p.Val593=) | |
2 | g.26480857C>G | CA1564189 | OTOF | c.1732G>C (p.Val578Leu) c.1777G>C (p.Val593Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480857C>T | CA346133086 | OTOF | c.1732G>A (p.Val578Ile) c.1777G>A (p.Val593Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |