Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26480742T>CCA1239827652OTOFc.1803+44A>G (n.1803+44A>G)
c.1848+44A>G (n.1848+44A>G)
 dbSNP gnomAD v4
2g.26480742T=CA1239827651OTOFc.1803+44A= (n.1803+44A=)
c.1848+44A= (n.1848+44A=)
2g.26480743G>ACA1239827653OTOFc.1803+43C>T (n.1803+43C>T)
c.1848+43C>T (n.1848+43C>T)
 dbSNP gnomAD v4
2g.26480743G=CA1239827654OTOFc.1803+43C= (n.1803+43C=)
c.1848+43C= (n.1848+43C=)
2g.26480743G>TCA2576699671OTOFc.1803+43C>A (n.1803+43C>A)
c.1848+43C>A (n.1848+43C>A)
 gnomAD v4
2g.26480744A=CA1239827656OTOFc.1803+42T= (n.1803+42T=)
c.1848+42T= (n.1848+42T=)
2g.26480744A>GCA531761985OTOFc.1803+42T>C (n.1803+42T>C)
c.1848+42T>C (n.1848+42T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480745G>ACA2576699672OTOFc.1803+41C>T (n.1803+41C>T)
c.1848+41C>T (n.1848+41C>T)
 gnomAD v4
2g.26480745G>CCA2658238230OTOFc.1803+41C>G (n.1803+41C>G)
c.1848+41C>G (n.1848+41C>G)
 gnomAD v4
2g.26480745G>TCA2658238231OTOFc.1803+41C>A (n.1803+41C>A)
c.1848+41C>A (n.1848+41C>A)
 gnomAD v4
2g.26480748G>ACA2658238232OTOFc.1803+38C>T (n.1803+38C>T)
c.1848+38C>T (n.1848+38C>T)
 gnomAD v4
2g.26480748G=CA1239827657OTOFc.1803+38C= (n.1803+38C=)
c.1848+38C= (n.1848+38C=)
2g.26480748G>TCA531761986OTOFc.1803+38C>A (n.1803+38C>A)
c.1848+38C>A (n.1848+38C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26480749G=CA1239827659OTOFc.1803+37C= (n.1803+37C=)
c.1848+37C= (n.1848+37C=)
2g.26480749G>TCA531761987OTOFc.1803+37C>A (n.1803+37C>A)
c.1848+37C>A (n.1848+37C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26480750A>CCA2658238234OTOFc.1803+36T>G (n.1803+36T>G)
c.1848+36T>G (n.1848+36T>G)
 gnomAD v4
2g.26480751G>ACA2658238235OTOFc.1803+35C>T (n.1803+35C>T)
c.1848+35C>T (n.1848+35C>T)
 gnomAD v4
2g.26480751G>TCA2576699673OTOFc.1803+35C>A (n.1803+35C>A)
c.1848+35C>A (n.1848+35C>A)
2g.26480752G>ACA2658238237OTOFc.1803+34C>T (n.1803+34C>T)
c.1848+34C>T (n.1848+34C>T)
 gnomAD v4
2g.26480752G=CA1239827660OTOFc.1803+34C= (n.1803+34C=)
c.1848+34C= (n.1848+34C=)
2g.26480752G>TCA44400954OTOFc.1803+34C>A (n.1803+34C>A)
c.1848+34C>A (n.1848+34C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480753C>ACA1239827661OTOFc.1803+33G>T (n.1803+33G>T)
c.1848+33G>T (n.1848+33G>T)
 dbSNP gnomAD v4
2g.26480753C=CA1239827662OTOFc.1803+33G= (n.1803+33G=)
c.1848+33G= (n.1848+33G=)
2g.26480753C>TCA1028609594OTOFc.1803+33G>A (n.1803+33G>A)
c.1848+33G>A (n.1848+33G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.26480753_26480772delinsCCCTGGGGGACAGCACAGTGCA1239827663OTOFc.1803+14_1803+33delinsCACTGTGCTGTCCCCCAGGG (n.1803+14_1803+33delinsCACTGTGCTGTCCCCCAGGG)
c.1848+14_1848+33delinsCACTGTGCTGTCCCCCAGGG (n.1848+14_1848+33delinsCACTGTGCTGTCCCCCAGGG)
2g.26480754C=CA1239827665OTOFc.1803+32G= (n.1803+32G=)
c.1848+32G= (n.1848+32G=)
2g.26480754C>TCA767288464OTOFc.1803+32G>A (n.1803+32G>A)
c.1848+32G>A (n.1848+32G>A)
 dbSNP
2g.26480761_26480779delCA531761988OTOFc.1803+14_1803+32del (n.1803+14_1803+32del)
c.1848+14_1848+32del (n.1848+14_1848+32del)
 dbSNP gnomAD v2 gnomAD v4
2g.26480756T>CCA2658238240OTOFc.1803+30A>G (n.1803+30A>G)
c.1848+30A>G (n.1848+30A>G)
 gnomAD v4
2g.26480757G>CCA2576699675OTOFc.1803+29C>G (n.1803+29C>G)
c.1848+29C>G (n.1848+29C>G)
2g.26480757G>TCA2658238242OTOFc.1803+29C>A (n.1803+29C>A)
c.1848+29C>A (n.1848+29C>A)
 gnomAD v4
2g.26480761dupCA2658238241OTOFc.1803+29dup (n.1803+29dup)
c.1848+29dup (n.1848+29dup)
 gnomAD v4
2g.26480761delCA2576699674OTOFc.1803+29del (n.1803+29del)
c.1848+29del (n.1848+29del)
 gnomAD v4
2g.26480758G>ACA1239827667OTOFc.1803+28C>T (n.1803+28C>T)
c.1848+28C>T (n.1848+28C>T)
 dbSNP gnomAD v4
2g.26480758G=CA1239827666OTOFc.1803+28C= (n.1803+28C=)
c.1848+28C= (n.1848+28C=)
2g.26480758G>TCA2749240772OTOFc.1803+28C>A (n.1803+28C>A)
c.1848+28C>A (n.1848+28C>A)
2g.26480760G>TCA2576699676OTOFc.1803+26C>A (n.1803+26C>A)
c.1848+26C>A (n.1848+26C>A)
 gnomAD v4
2g.26480761G>ACA2658238243OTOFc.1803+25C>T (n.1803+25C>T)
c.1848+25C>T (n.1848+25C>T)
 gnomAD v4
2g.26480761G>TCA2658238244OTOFc.1803+25C>A (n.1803+25C>A)
c.1848+25C>A (n.1848+25C>A)
 gnomAD v4
2g.26480762A>TCA2658238245OTOFc.1803+24T>A (n.1803+24T>A)
c.1848+24T>A (n.1848+24T>A)
 gnomAD v4
2g.26480763C>ACA531761989OTOFc.1803+23G>T (n.1803+23G>T)
c.1848+23G>T (n.1848+23G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480763C=CA1239827668OTOFc.1803+23G= (n.1803+23G=)
c.1848+23G= (n.1848+23G=)
2g.26480763C>TCA2576699677OTOFc.1803+23G>A (n.1803+23G>A)
c.1848+23G>A (n.1848+23G>A)
 gnomAD v4
2g.26480765G>ACA767288481OTOFc.1803+21C>T (n.1803+21C>T)
c.1848+21C>T (n.1848+21C>T)
 dbSNP gnomAD v4
2g.26480765G=CA1239827670OTOFc.1803+21C= (n.1803+21C=)
c.1848+21C= (n.1848+21C=)
2g.26480765G>TCA2658238247OTOFc.1803+21C>A (n.1803+21C>A)
c.1848+21C>A (n.1848+21C>A)
 gnomAD v4
2g.26480766C=CA1239827671OTOFc.1803+20G= (n.1803+20G=)
c.1848+20G= (n.1848+20G=)
2g.26480766C>TCA1239827672OTOFc.1803+20G>A (n.1803+20G>A)
c.1848+20G>A (n.1848+20G>A)
 dbSNP gnomAD v4
2g.26480767A>CCA2576699678OTOFc.1803+19T>G (n.1803+19T>G)
c.1848+19T>G (n.1848+19T>G)
2g.26480767A>GCA2658238249OTOFc.1803+19T>C (n.1803+19T>C)
c.1848+19T>C (n.1848+19T>C)
 gnomAD v4
2g.26480768C>GCA2576699679OTOFc.1803+18G>C (n.1803+18G>C)
c.1848+18G>C (n.1848+18G>C)
 gnomAD v4
2g.26480769A=CA1239827673OTOFc.1803+17T= (n.1803+17T=)
c.1848+17T= (n.1848+17T=)
2g.26480769A>GCA1239827674OTOFc.1803+17T>C (n.1803+17T>C)
c.1848+17T>C (n.1848+17T>C)
 dbSNP gnomAD v4
2g.26480770G>ACA2658238250OTOFc.1803+16C>T (n.1803+16C>T)
c.1848+16C>T (n.1848+16C>T)
 gnomAD v4
2g.26480771T>GCA2576699680OTOFc.1803+15A>C (n.1803+15A>C)
c.1848+15A>C (n.1848+15A>C)
2g.26480772G>ACA1564175OTOFc.1803+14C>T (n.1803+14C>T)
c.1848+14C>T (n.1848+14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480772G=CA1239827676OTOFc.1803+14C= (n.1803+14C=)
c.1848+14C= (n.1848+14C=)
2g.26480772G>TCA2658238251OTOFc.1803+14C>A (n.1803+14C>A)
c.1848+14C>A (n.1848+14C>A)
 gnomAD v4
2g.26480773C=CA1239827678OTOFc.1803+13G= (n.1803+13G=)
c.1848+13G= (n.1848+13G=)
2g.26480773C>TCA10615094OTOFc.1803+13G>A (n.1803+13G>A)
c.1848+13G>A (n.1848+13G>A)
 ClinVar dbSNP gnomAD v4
2g.26480775T>CCA44400958OTOFc.1803+11A>G (n.1803+11A>G)
c.1848+11A>G (n.1848+11A>G)
 ClinVar dbSNP gnomAD v4
2g.26480775T=CA1239827680OTOFc.1803+11A= (n.1803+11A=)
c.1848+11A= (n.1848+11A=)
2g.26480776G>ACA1564177OTOFc.1803+10C>T (n.1803+10C>T)
c.1848+10C>T (n.1848+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480776G=CA1239827683OTOFc.1803+10C= (n.1803+10C=)
c.1848+10C= (n.1848+10C=)
2g.26480776G>TCA2576699682OTOFc.1803+10C>A (n.1803+10C>A)
c.1848+10C>A (n.1848+10C>A)
2g.26480779dupCA1564176OTOFc.1803+10dup (n.1803+10dup)
c.1848+10dup (n.1848+10dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480779delCA2576699681OTOFc.1803+10del (n.1803+10del)
c.1848+10del (n.1848+10del)
2g.26480777G>TCA2658238256OTOFc.1803+9C>A (n.1803+9C>A)
c.1848+9C>A (n.1848+9C>A)
 gnomAD v4
2g.26480778G>ACA1564178OTOFc.1803+8C>T (n.1803+8C>T)
c.1848+8C>T (n.1848+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480778G=CA1239827686OTOFc.1803+8C= (n.1803+8C=)
c.1848+8C= (n.1848+8C=)
2g.26480779G=CA1239827687OTOFc.1803+7C= (n.1803+7C=)
c.1848+7C= (n.1848+7C=)
2g.26480779G>TCA1239827688OTOFc.1803+7C>A (n.1803+7C>A)
c.1848+7C>A (n.1848+7C>A)
 dbSNP
2g.26480780T=CA1239827689OTOFc.1803+6A= (n.1803+6A=)
c.1848+6A= (n.1848+6A=)
2g.26480781C=CA1239827692OTOFc.1803+5G= (n.1803+5G=)
c.1848+5G= (n.1848+5G=)
2g.26480781C>TCA1239827693OTOFc.1803+5G>A (n.1803+5G>A)
c.1848+5G>A (n.1848+5G>A)
 dbSNP gnomAD v4
2g.26480783_26480805dupCA1239827691OTOFc.1786_1803+5dup
c.1831_1848+5dup
 dbSNP gnomAD v4
2g.26480784A>CCA346132514OTOFc.1803+2T>G (n.1803+2T>G)
c.1848+2T>G (n.1848+2T>G)
2g.26480784A>GCA346132517OTOFc.1803+2T>C (n.1803+2T>C)
c.1848+2T>C (n.1848+2T>C)
2g.26480784A>TCA346132519OTOFc.1803+2T>A (n.1803+2T>A)
c.1848+2T>A (n.1848+2T>A)
2g.26480784_26480785delinsACCA1239827694OTOFc.1803+1_1803+2delinsGT (n.1803+1_1803+2delinsGT)
c.1848+1_1848+2delinsGT (n.1848+1_1848+2delinsGT)
2g.26480785C>ACA346132521OTOFc.1803+1G>T (n.1803+1G>T)
c.1848+1G>T (n.1848+1G>T)
2g.26480785C>GCA346132523OTOFc.1803+1G>C (n.1803+1G>C)
c.1848+1G>C (n.1848+1G>C)
2g.26480785C>TCA346132526OTOFc.1803+1G>A (n.1803+1G>A)
c.1848+1G>A (n.1848+1G>A)
 ClinVar dbSNP gnomAD v4
2g.26480786delCA767288499OTOFc.1803+1del
c.1848+1del
 dbSNP gnomAD v3 gnomAD v4
2g.26480786C>ACA346132528OTOFc.1803G>T (p.Glu601Asp)
c.1848G>T (p.Glu616Asp)
2g.26480786C>GCA346132530OTOFc.1803G>C (p.Glu601Asp)
c.1848G>C (p.Glu616Asp)
2g.26480786C>TCA425205810OTOFc.1803G>A (p.Glu601=)
c.1848G>A (p.Glu616=)
 gnomAD v4
2g.26480787T>ACA346132533OTOFc.1802A>T (p.Glu601Val)
c.1847A>T (p.Glu616Val)
2g.26480787T>CCA346132535OTOFc.1802A>G (p.Glu601Gly)
c.1847A>G (p.Glu616Gly)
2g.26480787T>GCA346132536OTOFc.1802A>C (p.Glu601Ala)
c.1847A>C (p.Glu616Ala)
2g.26480788C>ACA346132538OTOFc.1801G>T (p.Glu601Ter)
c.1846G>T (p.Glu616Ter)
 ClinVar dbSNP
2g.26480788C=CA1239827696OTOFc.1801G= (p.Glu601=)
c.1846G= (p.Glu616=)
2g.26480788C>GCA346132540OTOFc.1801G>C (p.Glu601Gln)
c.1846G>C (p.Glu616Gln)
2g.26480788C>TCA346132542OTOFc.1801G>A (p.Glu601Lys)
c.1846G>A (p.Glu616Lys)
 COSMIC
2g.26480789C>ACA425205818OTOFc.1800G>T (p.Ser600=)
c.1845G>T (p.Ser615=)
 gnomAD v4
2g.26480789C=CA1239827697OTOFc.1800G= (p.Ser600=)
c.1845G= (p.Ser615=)
2g.26480789C>GCA425205820OTOFc.1800G>C (p.Ser600=)
c.1845G>C (p.Ser615=)
2g.26480789C>TCA142764OTOFc.1800G>A (p.Ser600=)
c.1845G>A (p.Ser615=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26480790G>ACA1564179OTOFc.1799C>T (p.Ser600Leu)
c.1844C>T (p.Ser615Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480790G>CCA346132548OTOFc.1799C>G (p.Ser600Trp)
c.1844C>G (p.Ser615Trp)
2g.26480790G=CA1239827700OTOFc.1799C= (p.Ser600=)
c.1844C= (p.Ser615=)
2g.26480790G>TCA346132551OTOFc.1799C>A (p.Ser600Ter)
c.1844C>A (p.Ser615Ter)
 dbSNP gnomAD v4
2g.26480791A=CA1239827702OTOFc.1798T= (p.Ser600=)
c.1843T= (p.Ser615=)
2g.26480791A>CCA346132554OTOFc.1798T>G (p.Ser600Ala)
c.1843T>G (p.Ser615Ala)
2g.26480791A>GCA346132556OTOFc.1798T>C (p.Ser600Pro)
c.1843T>C (p.Ser615Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.26480791A>TCA346132558OTOFc.1798T>A (p.Ser600Thr)
c.1843T>A (p.Ser615Thr)
2g.26480792G>ACA425205827OTOFc.1797C>T (p.Ile599=)
c.1842C>T (p.Ile614=)
2g.26480792G>CCA346132560OTOFc.1797C>G (p.Ile599Met)
c.1842C>G (p.Ile614Met)
2g.26480792G>TCA425205831OTOFc.1797C>A (p.Ile599=)
c.1842C>A (p.Ile614=)
2g.26480793A>CCA346132568OTOFc.1796T>G (p.Ile599Ser)
c.1841T>G (p.Ile614Ser)
2g.26480793A>GCA346132564OTOFc.1796T>C (p.Ile599Thr)
c.1841T>C (p.Ile614Thr)
2g.26480793A>TCA346132567OTOFc.1796T>A (p.Ile599Asn)
c.1841T>A (p.Ile614Asn)
2g.26480794T>ACA1564180OTOFc.1795A>T (p.Ile599Phe)
c.1840A>T (p.Ile614Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480794T>CCA346132569OTOFc.1795A>G (p.Ile599Val)
c.1840A>G (p.Ile614Val)
2g.26480794T>GCA346132570OTOFc.1795A>C (p.Ile599Leu)
c.1840A>C (p.Ile614Leu)
 gnomAD v4
2g.26480794T=CA1239827703OTOFc.1795A= (p.Ile599=)
c.1840A= (p.Ile614=)
2g.26480795G>ACA425205834OTOFc.1794C>T (p.Pro598=)
c.1839C>T (p.Pro613=)
 gnomAD v4
2g.26480795G>CCA425205835OTOFc.1794C>G (p.Pro598=)
c.1839C>G (p.Pro613=)
 gnomAD v4
2g.26480795G>TCA425205836OTOFc.1794C>A (p.Pro598=)
c.1839C>A (p.Pro613=)
 gnomAD v4
2g.26480796G>ACA346132573OTOFc.1793C>T (p.Pro598Leu)
c.1838C>T (p.Pro613Leu)
2g.26480796G>CCA346132575OTOFc.1793C>G (p.Pro598Arg)
c.1838C>G (p.Pro613Arg)
2g.26480796G>TCA346132577OTOFc.1793C>A (p.Pro598His)
c.1838C>A (p.Pro613His)
2g.26480797G>ACA346132580OTOFc.1792C>T (p.Pro598Ser)
c.1837C>T (p.Pro613Ser)
 gnomAD v4
2g.26480797G>CCA346132585OTOFc.1792C>G (p.Pro598Ala)
c.1837C>G (p.Pro613Ala)
2g.26480797G=CA1239827705OTOFc.1792C= (p.Pro598=)
c.1837C= (p.Pro613=)
2g.26480797G>TCA346132583OTOFc.1792C>A (p.Pro598Thr)
c.1837C>A (p.Pro613Thr)
 dbSNP
2g.26480798C>ACA425205845OTOFc.1791G>T (p.Thr597=)
c.1836G>T (p.Thr612=)
 ClinVar gnomAD v4
2g.26480798C=CA1239827707OTOFc.1791G= (p.Thr597=)
c.1836G= (p.Thr612=)
2g.26480798C>GCA425205846OTOFc.1791G>C (p.Thr597=)
c.1836G>C (p.Thr612=)
2g.26480798C>TCA1564181OTOFc.1791G>A (p.Thr597=)
c.1836G>A (p.Thr612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480799G>ACA1564182OTOFc.1790C>T (p.Thr597Met)
c.1835C>T (p.Thr612Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480799G>CCA346132596OTOFc.1790C>G (p.Thr597Arg)
c.1835C>G (p.Thr612Arg)
2g.26480799G=CA1239827709OTOFc.1790C= (p.Thr597=)
c.1835C= (p.Thr612=)
2g.26480799G>TCA346132602OTOFc.1790C>A (p.Thr597Lys)
c.1835C>A (p.Thr612Lys)
2g.26480800T>ACA346132606OTOFc.1789A>T (p.Thr597Ser)
c.1834A>T (p.Thr612Ser)
2g.26480800T>CCA346132613OTOFc.1789A>G (p.Thr597Ala)
c.1834A>G (p.Thr612Ala)
 dbSNP
2g.26480800T>GCA346132610OTOFc.1789A>C (p.Thr597Pro)
c.1834A>C (p.Thr612Pro)
2g.26480800T=CA1239827710OTOFc.1789A= (p.Thr597=)
c.1834A= (p.Thr612=)
2g.26480801G>ACA1564183OTOFc.1788C>T (p.Ala596=)
c.1833C>T (p.Ala611=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480801G>CCA425205853OTOFc.1788C>G (p.Ala596=)
c.1833C>G (p.Ala611=)
2g.26480801G=CA1239827712OTOFc.1788C= (p.Ala596=)
c.1833C= (p.Ala611=)
2g.26480801G>TCA425205854OTOFc.1788C>A (p.Ala596=)
c.1833C>A (p.Ala611=)
2g.26480802G>ACA346132620OTOFc.1787C>T (p.Ala596Val)
c.1832C>T (p.Ala611Val)
2g.26480802G>CCA346132623OTOFc.1787C>G (p.Ala596Gly)
c.1832C>G (p.Ala611Gly)
2g.26480802G>TCA346132628OTOFc.1787C>A (p.Ala596Asp)
c.1832C>A (p.Ala611Asp)
 gnomAD v4
2g.26480803C>ACA346132632OTOFc.1786G>T (p.Ala596Ser)
c.1831G>T (p.Ala611Ser)
 gnomAD v4
2g.26480803C>GCA346132636OTOFc.1786G>C (p.Ala596Pro)
c.1831G>C (p.Ala611Pro)
2g.26480803C>TCA346132641OTOFc.1786G>A (p.Ala596Thr)
c.1831G>A (p.Ala611Thr)
 gnomAD v4
2g.26480804C>ACA346132644OTOFc.1785G>T (p.Gln595His)
c.1830G>T (p.Gln610His)
2g.26480804C>GCA346132645OTOFc.1785G>C (p.Gln595His)
c.1830G>C (p.Gln610His)
2g.26480804C>TCA425205858OTOFc.1785G>A (p.Gln595=)
c.1830G>A (p.Gln610=)
2g.26480805T>ACA346132647OTOFc.1784A>T (p.Gln595Leu)
c.1829A>T (p.Gln610Leu)
2g.26480805T>CCA346132649OTOFc.1784A>G (p.Gln595Arg)
c.1829A>G (p.Gln610Arg)
 COSMIC
2g.26480805T>GCA346132653OTOFc.1784A>C (p.Gln595Pro)
c.1829A>C (p.Gln610Pro)
2g.26480806G>ACA346132657OTOFc.1783C>T (p.Gln595Ter)
c.1828C>T (p.Gln610Ter)
2g.26480806G>CCA346132664OTOFc.1783C>G (p.Gln595Glu)
c.1828C>G (p.Gln610Glu)
2g.26480806G>TCA346132660OTOFc.1783C>A (p.Gln595Lys)
c.1828C>A (p.Gln610Lys)
2g.26480807C>ACA346132667OTOFc.1782G>T (p.Glu594Asp)
c.1827G>T (p.Glu609Asp)
2g.26480807C>GCA346132669OTOFc.1782G>C (p.Glu594Asp)
c.1827G>C (p.Glu609Asp)
2g.26480807C>TCA425205861OTOFc.1782G>A (p.Glu594=)
c.1827G>A (p.Glu609=)
 ClinVar gnomAD v4
2g.26480808T>ACA346132673OTOFc.1781A>T (p.Glu594Val)
c.1826A>T (p.Glu609Val)
2g.26480808T>CCA346132676OTOFc.1781A>G (p.Glu594Gly)
c.1826A>G (p.Glu609Gly)
 gnomAD v4
2g.26480808T>GCA346132679OTOFc.1781A>C (p.Glu594Ala)
c.1826A>C (p.Glu609Ala)
2g.26480809C>ACA346132683OTOFc.1780G>T (p.Glu594Ter)
c.1825G>T (p.Glu609Ter)
2g.26480809C=CA1239827714OTOFc.1780G= (p.Glu594=)
c.1825G= (p.Glu609=)
2g.26480809C>GCA346132686OTOFc.1780G>C (p.Glu594Gln)
c.1825G>C (p.Glu609Gln)
2g.26480809C>TCA345096OTOFc.1780G>A (p.Glu594Lys)
c.1825G>A (p.Glu609Lys)
 ClinVar dbSNP gnomAD v4
2g.26480810C>ACA425205866OTOFc.1779G>T (p.Val593=)
c.1824G>T (p.Val608=)
2g.26480810C=CA1239827717OTOFc.1779G= (p.Val593=)
c.1824G= (p.Val608=)
2g.26480810C>GCA425205868OTOFc.1779G>C (p.Val593=)
c.1824G>C (p.Val608=)
2g.26480810C>TCA1564184OTOFc.1779G>A (p.Val593=)
c.1824G>A (p.Val608=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480811A=CA1239827718OTOFc.1778T= (p.Val593=)
c.1823T= (p.Val608=)
2g.26480811A>CCA346132701OTOFc.1778T>G (p.Val593Gly)
c.1823T>G (p.Val608Gly)
2g.26480811A>GCA346132707OTOFc.1778T>C (p.Val593Ala)
c.1823T>C (p.Val608Ala)
2g.26480811A>TCA346132711OTOFc.1778T>A (p.Val593Glu)
c.1823T>A (p.Val608Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26480812C>ACA346132724OTOFc.1777G>T (p.Val593Leu)
c.1822G>T (p.Val608Leu)
2g.26480812C>GCA346132720OTOFc.1777G>C (p.Val593Leu)
c.1822G>C (p.Val608Leu)
2g.26480812C>TCA346132716OTOFc.1777G>A (p.Val593Met)
c.1822G>A (p.Val608Met)
 gnomAD v4
2g.26480813C>ACA346132729OTOFc.1776G>T (p.Gln592His)
c.1821G>T (p.Gln607His)
2g.26480813C=CA1239827720OTOFc.1776G= (p.Gln592=)
c.1821G= (p.Gln607=)
2g.26480813C>GCA346132732OTOFc.1776G>C (p.Gln592His)
c.1821G>C (p.Gln607His)
2g.26480813C>TCA425205873OTOFc.1776G>A (p.Gln592=)
c.1821G>A (p.Gln607=)
 dbSNP gnomAD v2 gnomAD v4
2g.26480814T>ACA346132738OTOFc.1775A>T (p.Gln592Leu)
c.1820A>T (p.Gln607Leu)
2g.26480814T>CCA346132755OTOFc.1775A>G (p.Gln592Arg)
c.1820A>G (p.Gln607Arg)
2g.26480814T>GCA346132759OTOFc.1775A>C (p.Gln592Pro)
c.1820A>C (p.Gln607Pro)
2g.26480815G>ACA346132762OTOFc.1774C>T (p.Gln592Ter)
c.1819C>T (p.Gln607Ter)
 gnomAD v4
2g.26480815G>CCA346132765OTOFc.1774C>G (p.Gln592Glu)
c.1819C>G (p.Gln607Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.26480815G=CA1239827721OTOFc.1774C= (p.Gln592=)
c.1819C= (p.Gln607=)
2g.26480815G>TCA346132766OTOFc.1774C>A (p.Gln592Lys)
c.1819C>A (p.Gln607Lys)
2g.26480816C>ACA1564185OTOFc.1773G>T (p.Val591=)
c.1818G>T (p.Val606=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480816C=CA1239827723OTOFc.1773G= (p.Val591=)
c.1818G= (p.Val606=)
2g.26480816C>GCA425205876OTOFc.1773G>C (p.Val591=)
c.1818G>C (p.Val606=)
2g.26480816C>TCA425205878OTOFc.1773G>A (p.Val591=)
c.1818G>A (p.Val606=)
 gnomAD v4
2g.26480817A>CCA346132770OTOFc.1772T>G (p.Val591Gly)
c.1817T>G (p.Val606Gly)
2g.26480817A>GCA346132773OTOFc.1772T>C (p.Val591Ala)
c.1817T>C (p.Val606Ala)
2g.26480817A>TCA346132776OTOFc.1772T>A (p.Val591Glu)
c.1817T>A (p.Val606Glu)
 gnomAD v4
2g.26480818C>ACA346132788OTOFc.1771G>T (p.Val591Leu)
c.1816G>T (p.Val606Leu)
 dbSNP
2g.26480818C=CA1239827725OTOFc.1771G= (p.Val591=)
c.1816G= (p.Val606=)
2g.26480818C>GCA346132782OTOFc.1771G>C (p.Val591Leu)
c.1816G>C (p.Val606Leu)
2g.26480818C>TCA346132783OTOFc.1771G>A (p.Val591Met)
c.1816G>A (p.Val606Met)
 dbSNP gnomAD v2 gnomAD v4
2g.26480819C>ACA346132793OTOFc.1770G>T (p.Glu590Asp)
c.1815G>T (p.Glu605Asp)
2g.26480819C>GCA346132795OTOFc.1770G>C (p.Glu590Asp)
c.1815G>C (p.Glu605Asp)
2g.26480819C>TCA425205882OTOFc.1770G>A (p.Glu590=)
c.1815G>A (p.Glu605=)
2g.26480820T>ACA346132800OTOFc.1769A>T (p.Glu590Val)
c.1814A>T (p.Glu605Val)
2g.26480820T>CCA346132804OTOFc.1769A>G (p.Glu590Gly)
c.1814A>G (p.Glu605Gly)
2g.26480820T>GCA346132806OTOFc.1769A>C (p.Glu590Ala)
c.1814A>C (p.Glu605Ala)
2g.26480821C>ACA346132812OTOFc.1768G>T (p.Glu590Ter)
c.1813G>T (p.Glu605Ter)
2g.26480821C=CA1239827728OTOFc.1768G= (p.Glu590=)
c.1813G= (p.Glu605=)
2g.26480821C>GCA346132814OTOFc.1768G>C (p.Glu590Gln)
c.1813G>C (p.Glu605Gln)
 dbSNP
2g.26480821C>TCA1564186OTOFc.1768G>A (p.Glu590Lys)
c.1813G>A (p.Glu605Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480822T>ACA425205885OTOFc.1767A>T (p.Thr589=)
c.1812A>T (p.Thr604=)
2g.26480822T>CCA425205886OTOFc.1767A>G (p.Thr589=)
c.1812A>G (p.Thr604=)
2g.26480822T>GCA425205887OTOFc.1767A>C (p.Thr589=)
c.1812A>C (p.Thr604=)
 dbSNP gnomAD v4
2g.26480822T=CA1239827729OTOFc.1767A= (p.Thr589=)
c.1812A= (p.Thr604=)
2g.26480823G>ACA346132827OTOFc.1766C>T (p.Thr589Ile)
c.1811C>T (p.Thr604Ile)
2g.26480823G>CCA346132831OTOFc.1766C>G (p.Thr589Arg)
c.1811C>G (p.Thr604Arg)
2g.26480823G>TCA346132835OTOFc.1766C>A (p.Thr589Lys)
c.1811C>A (p.Thr604Lys)
2g.26480824T>ACA346132843OTOFc.1765A>T (p.Thr589Ser)
c.1810A>T (p.Thr604Ser)
2g.26480824T>CCA346132846OTOFc.1765A>G (p.Thr589Ala)
c.1810A>G (p.Thr604Ala)
 dbSNP COSMIC
2g.26480824T>GCA346132851OTOFc.1765A>C (p.Thr589Pro)
c.1810A>C (p.Thr604Pro)
2g.26480824T=CA1239827731OTOFc.1765A= (p.Thr589=)
c.1810A= (p.Thr604=)
2g.26480825G>ACA425205889OTOFc.1764C>T (p.Ser588=)
c.1809C>T (p.Ser603=)
2g.26480825G>CCA425205892OTOFc.1764C>G (p.Ser588=)
c.1809C>G (p.Ser603=)
2g.26480825G>TCA425205891OTOFc.1764C>A (p.Ser588=)
c.1809C>A (p.Ser603=)
 COSMIC
2g.26480826G>ACA346132865OTOFc.1763C>T (p.Ser588Phe)
c.1808C>T (p.Ser603Phe)
 dbSNP gnomAD v4
2g.26480826G>CCA346132860OTOFc.1763C>G (p.Ser588Cys)
c.1808C>G (p.Ser603Cys)
2g.26480826G=CA1239827733OTOFc.1763C= (p.Ser588=)
c.1808C= (p.Ser603=)
2g.26480826G>TCA346132856OTOFc.1763C>A (p.Ser588Tyr)
c.1808C>A (p.Ser603Tyr)
2g.26480827A>CCA346132870OTOFc.1762T>G (p.Ser588Ala)
c.1807T>G (p.Ser603Ala)
2g.26480827A>GCA346132872OTOFc.1762T>C (p.Ser588Pro)
c.1807T>C (p.Ser603Pro)
2g.26480827A>TCA346132875OTOFc.1762T>A (p.Ser588Thr)
c.1807T>A (p.Ser603Thr)
 gnomAD v4
2g.26480828G>ACA425205897OTOFc.1761C>T (p.Ser587=)
c.1806C>T (p.Ser602=)
2g.26480828G>CCA346132880OTOFc.1761C>G (p.Ser587Arg)
c.1806C>G (p.Ser602Arg)
2g.26480828G=CA1239827735OTOFc.1761C= (p.Ser587=)
c.1806C= (p.Ser602=)
2g.26480828G>TCA346132884OTOFc.1761C>A (p.Ser587Arg)
c.1806C>A (p.Ser602Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26480829C>ACA346132891OTOFc.1760G>T (p.Ser587Ile)
c.1805G>T (p.Ser602Ile)
2g.26480829C=CA1239827737OTOFc.1760G= (p.Ser587=)
c.1805G= (p.Ser602=)
2g.26480829C>GCA346132895OTOFc.1760G>C (p.Ser587Thr)
c.1805G>C (p.Ser602Thr)
 dbSNP
2g.26480829C>TCA346132898OTOFc.1760G>A (p.Ser587Asn)
c.1805G>A (p.Ser602Asn)
 gnomAD v4
2g.26480830T>ACA346132906OTOFc.1759A>T (p.Ser587Cys)
c.1804A>T (p.Ser602Cys)
 dbSNP gnomAD v4
2g.26480830T>CCA346132909OTOFc.1759A>G (p.Ser587Gly)
c.1804A>G (p.Ser602Gly)
2g.26480830T>GCA346132928OTOFc.1759A>C (p.Ser587Arg)
c.1804A>C (p.Ser602Arg)
2g.26480830T=CA1239827739OTOFc.1759A= (p.Ser587=)
c.1804A= (p.Ser602=)
2g.26480831G>ACA425205899OTOFc.1758C>T (p.Thr586=)
c.1803C>T (p.Thr601=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26480831G>CCA425205900OTOFc.1758C>G (p.Thr586=)
c.1803C>G (p.Thr601=)
2g.26480831G=CA1239827741OTOFc.1758C= (p.Thr586=)
c.1803C= (p.Thr601=)
2g.26480831G>TCA425205902OTOFc.1758C>A (p.Thr586=)
c.1803C>A (p.Thr601=)
2g.26480832G>ACA346132933OTOFc.1757C>T (p.Thr586Ile)
c.1802C>T (p.Thr601Ile)
2g.26480832G>CCA346132936OTOFc.1757C>G (p.Thr586Ser)
c.1802C>G (p.Thr601Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26480832G=CA1239827742OTOFc.1757C= (p.Thr586=)
c.1802C= (p.Thr601=)
2g.26480832G>TCA346132939OTOFc.1757C>A (p.Thr586Asn)
c.1802C>A (p.Thr601Asn)
 gnomAD v4
2g.26480833T>ACA346132948OTOFc.1756A>T (p.Thr586Ser)
c.1801A>T (p.Thr601Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26480833T>CCA346132950OTOFc.1756A>G (p.Thr586Ala)
c.1801A>G (p.Thr601Ala)
 dbSNP gnomAD v4
2g.26480833T>GCA346132944OTOFc.1756A>C (p.Thr586Pro)
c.1801A>C (p.Thr601Pro)
 gnomAD v4
2g.26480833T=CA1239827743OTOFc.1756A= (p.Thr586=)
c.1801A= (p.Thr601=)
2g.26480834G>ACA425205906OTOFc.1755C>T (p.Leu585=)
c.1800C>T (p.Leu600=)
2g.26480834G>CCA425205907OTOFc.1755C>G (p.Leu585=)
c.1800C>G (p.Leu600=)
2g.26480834G>TCA425205909OTOFc.1755C>A (p.Leu585=)
c.1800C>A (p.Leu600=)
2g.26480835A>CCA346132954OTOFc.1754T>G (p.Leu585Arg)
c.1799T>G (p.Leu600Arg)
2g.26480835A>GCA346132956OTOFc.1754T>C (p.Leu585Pro)
c.1799T>C (p.Leu600Pro)
2g.26480835A>TCA346132959OTOFc.1754T>A (p.Leu585His)
c.1799T>A (p.Leu600His)
2g.26480836G>ACA346132962OTOFc.1753C>T (p.Leu585Phe)
c.1798C>T (p.Leu600Phe)
2g.26480836G>CCA44400977OTOFc.1753C>G (p.Leu585Val)
c.1798C>G (p.Leu600Val)
 dbSNP
2g.26480836G=CA1239827745OTOFc.1753C= (p.Leu585=)
c.1798C= (p.Leu600=)
2g.26480836G>TCA346132966OTOFc.1753C>A (p.Leu585Ile)
c.1798C>A (p.Leu600Ile)
2g.26480837C>ACA346132971OTOFc.1752G>T (p.Glu584Asp)
c.1797G>T (p.Glu599Asp)
2g.26480837C>GCA346132969OTOFc.1752G>C (p.Glu584Asp)
c.1797G>C (p.Glu599Asp)
2g.26480837C>TCA425205913OTOFc.1752G>A (p.Glu584=)
c.1797G>A (p.Glu599=)
2g.26480838T>ACA346132981OTOFc.1751A>T (p.Glu584Val)
c.1796A>T (p.Glu599Val)
2g.26480838T>CCA346132984OTOFc.1751A>G (p.Glu584Gly)
c.1796A>G (p.Glu599Gly)
2g.26480838T>GCA346132986OTOFc.1751A>C (p.Glu584Ala)
c.1796A>C (p.Glu599Ala)
2g.26480839C>ACA346132989OTOFc.1750G>T (p.Glu584Ter)
c.1795G>T (p.Glu599Ter)
2g.26480839C=CA1239827746OTOFc.1750G= (p.Glu584=)
c.1795G= (p.Glu599=)
2g.26480839C>GCA346132991OTOFc.1750G>C (p.Glu584Gln)
c.1795G>C (p.Glu599Gln)
2g.26480839C>TCA1564187OTOFc.1750G>A (p.Glu584Lys)
c.1795G>A (p.Glu599Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480840A>CCA425205918OTOFc.1749T>G (p.Pro583=)
c.1794T>G (p.Pro598=)
2g.26480840A>GCA425205919OTOFc.1749T>C (p.Pro583=)
c.1794T>C (p.Pro598=)
 gnomAD v4
2g.26480840A>TCA425205920OTOFc.1749T>A (p.Pro583=)
c.1794T>A (p.Pro598=)
2g.26480841G>ACA346132996OTOFc.1748C>T (p.Pro583Leu)
c.1793C>T (p.Pro598Leu)
2g.26480841G>CCA346133001OTOFc.1748C>G (p.Pro583Arg)
c.1793C>G (p.Pro598Arg)
2g.26480841G>TCA346132999OTOFc.1748C>A (p.Pro583His)
c.1793C>A (p.Pro598His)
 gnomAD v4
2g.26480842G>ACA346133005OTOFc.1747C>T (p.Pro583Ser)
c.1792C>T (p.Pro598Ser)
 COSMIC
2g.26480842G>CCA1564188OTOFc.1747C>G (p.Pro583Ala)
c.1792C>G (p.Pro598Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480842G=CA1239827748OTOFc.1747C= (p.Pro583=)
c.1792C= (p.Pro598=)
2g.26480842G>TCA346133007OTOFc.1747C>A (p.Pro583Thr)
c.1792C>A (p.Pro598Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched