Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26461702A>CCA346131254OTOFc.5527T>G (p.Phe1843Val)
c.3226T>G (p.Phe1076Val)
c.3286T>G (p.Phe1096Val)
c.3457T>G (p.Phe1153Val)
c.5512T>G (p.Phe1838Val)
c.5572T>G (p.Phe1858Val)
c.5467T>G (p.Phe1823Val)
2g.26461702A>GCA346131255OTOFc.5527T>C (p.Phe1843Leu)
c.3226T>C (p.Phe1076Leu)
c.3286T>C (p.Phe1096Leu)
c.3457T>C (p.Phe1153Leu)
c.5512T>C (p.Phe1838Leu)
c.5572T>C (p.Phe1858Leu)
c.5467T>C (p.Phe1823Leu)
2g.26461702A>TCA346131256OTOFc.5527T>A (p.Phe1843Ile)
c.3226T>A (p.Phe1076Ile)
c.3286T>A (p.Phe1096Ile)
c.3457T>A (p.Phe1153Ile)
c.5512T>A (p.Phe1838Ile)
c.5572T>A (p.Phe1858Ile)
c.5467T>A (p.Phe1823Ile)
2g.26461702_26461705delinsAGTCCA1239825385OTOFc.5524_5527delinsGACT (p.Asp1842=)
c.3223_3226delinsGACT (p.Asp1075=)
c.3283_3286delinsGACT (p.Asp1095=)
c.3454_3457delinsGACT (p.Asp1152=)
c.5509_5512delinsGACT (p.Asp1837=)
c.5569_5572delinsGACT (p.Asp1857=)
c.5464_5467delinsGACT (p.Asp1822=)
2g.26461703G>ACA425359158OTOFc.5526C>T (p.Asp1842=)
c.3225C>T (p.Asp1075=)
c.3285C>T (p.Asp1095=)
c.3456C>T (p.Asp1152=)
c.5511C>T (p.Asp1837=)
c.5571C>T (p.Asp1857=)
c.5466C>T (p.Asp1822=)
2g.26461703G>CCA346131258OTOFc.5526C>G (p.Asp1842Glu)
c.3225C>G (p.Asp1075Glu)
c.3285C>G (p.Asp1095Glu)
c.3456C>G (p.Asp1152Glu)
c.5511C>G (p.Asp1837Glu)
c.5571C>G (p.Asp1857Glu)
c.5466C>G (p.Asp1822Glu)
2g.26461703G>TCA346131257OTOFc.5526C>A (p.Asp1842Glu)
c.3225C>A (p.Asp1075Glu)
c.3285C>A (p.Asp1095Glu)
c.3456C>A (p.Asp1152Glu)
c.5511C>A (p.Asp1837Glu)
c.5571C>A (p.Asp1857Glu)
c.5466C>A (p.Asp1822Glu)
2g.26461706_26461708delCA1239825386OTOFc.5524_5526del (p.Asp1842del)
c.3223_3225del (p.Asp1075del)
c.3283_3285del (p.Asp1095del)
c.3454_3456del (p.Asp1152del)
c.5509_5511del (p.Asp1837del)
c.5569_5571del (p.Asp1857del)
c.5464_5466del (p.Asp1822del)
 dbSNP gnomAD v4
2g.26461704T>ACA346131259OTOFc.5525A>T (p.Asp1842Val)
c.3224A>T (p.Asp1075Val)
c.3284A>T (p.Asp1095Val)
c.3455A>T (p.Asp1152Val)
c.5510A>T (p.Asp1837Val)
c.5570A>T (p.Asp1857Val)
c.5465A>T (p.Asp1822Val)
2g.26461704T>CCA346131260OTOFc.5525A>G (p.Asp1842Gly)
c.3224A>G (p.Asp1075Gly)
c.3284A>G (p.Asp1095Gly)
c.3455A>G (p.Asp1152Gly)
c.5510A>G (p.Asp1837Gly)
c.5570A>G (p.Asp1857Gly)
c.5465A>G (p.Asp1822Gly)
2g.26461704T>GCA346131261OTOFc.5525A>C (p.Asp1842Ala)
c.3224A>C (p.Asp1075Ala)
c.3284A>C (p.Asp1095Ala)
c.3455A>C (p.Asp1152Ala)
c.5510A>C (p.Asp1837Ala)
c.5570A>C (p.Asp1857Ala)
c.5465A>C (p.Asp1822Ala)
2g.26461705C>ACA346131262OTOFc.5524G>T (p.Asp1842Tyr)
c.3223G>T (p.Asp1075Tyr)
c.3283G>T (p.Asp1095Tyr)
c.3454G>T (p.Asp1152Tyr)
c.5509G>T (p.Asp1837Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5464G>T (p.Asp1822Tyr)
2g.26461705C=CA1239825387OTOFc.5524G= (p.Asp1842=)
c.3223G= (p.Asp1075=)
c.3283G= (p.Asp1095=)
c.3454G= (p.Asp1152=)
c.5509G= (p.Asp1837=)
c.5569G= (p.Asp1857=)
c.5464G= (p.Asp1822=)
2g.26461705C>GCA346131263OTOFc.5524G>C (p.Asp1842His)
c.3223G>C (p.Asp1075His)
c.3283G>C (p.Asp1095His)
c.3454G>C (p.Asp1152His)
c.5509G>C (p.Asp1837His)
c.5569G>C (p.Asp1857His)
c.5464G>C (p.Asp1822His)
2g.26461705C>TCA346131264OTOFc.5524G>A (p.Asp1842Asn)
c.3223G>A (p.Asp1075Asn)
c.3283G>A (p.Asp1095Asn)
c.3454G>A (p.Asp1152Asn)
c.5509G>A (p.Asp1837Asn)
c.5569G>A (p.Asp1857Asn)
c.5464G>A (p.Asp1822Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.26461706G>ACA1562801OTOFc.5523C>T (p.Asp1841=)
c.3222C>T (p.Asp1074=)
c.3282C>T (p.Asp1094=)
c.3453C>T (p.Asp1151=)
c.5508C>T (p.Asp1836=)
c.5568C>T (p.Asp1856=)
c.5463C>T (p.Asp1821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461706G>CCA346131265OTOFc.5523C>G (p.Asp1841Glu)
c.3222C>G (p.Asp1074Glu)
c.3282C>G (p.Asp1094Glu)
c.3453C>G (p.Asp1151Glu)
c.5508C>G (p.Asp1836Glu)
c.5568C>G (p.Asp1856Glu)
c.5463C>G (p.Asp1821Glu)
2g.26461706G=CA1239825388OTOFc.5523C= (p.Asp1841=)
c.3222C= (p.Asp1074=)
c.3282C= (p.Asp1094=)
c.3453C= (p.Asp1151=)
c.5508C= (p.Asp1836=)
c.5568C= (p.Asp1856=)
c.5463C= (p.Asp1821=)
2g.26461706G>TCA346131266OTOFc.5523C>A (p.Asp1841Glu)
c.3222C>A (p.Asp1074Glu)
c.3282C>A (p.Asp1094Glu)
c.3453C>A (p.Asp1151Glu)
c.5508C>A (p.Asp1836Glu)
c.5568C>A (p.Asp1856Glu)
c.5463C>A (p.Asp1821Glu)
2g.26461707T>ACA346131267OTOFc.5522A>T (p.Asp1841Val)
c.3221A>T (p.Asp1074Val)
c.3281A>T (p.Asp1094Val)
c.3452A>T (p.Asp1151Val)
c.5507A>T (p.Asp1836Val)
c.5567A>T (p.Asp1856Val)
c.5462A>T (p.Asp1821Val)
 gnomAD v4
2g.26461707T>CCA346131268OTOFc.5522A>G (p.Asp1841Gly)
c.3221A>G (p.Asp1074Gly)
c.3281A>G (p.Asp1094Gly)
c.3452A>G (p.Asp1151Gly)
c.5507A>G (p.Asp1836Gly)
c.5567A>G (p.Asp1856Gly)
c.5462A>G (p.Asp1821Gly)
2g.26461707T>GCA346131269OTOFc.5522A>C (p.Asp1841Ala)
c.3221A>C (p.Asp1074Ala)
c.3281A>C (p.Asp1094Ala)
c.3452A>C (p.Asp1151Ala)
c.5507A>C (p.Asp1836Ala)
c.5567A>C (p.Asp1856Ala)
c.5462A>C (p.Asp1821Ala)
2g.26461708C>ACA346131271OTOFc.5521G>T (p.Asp1841Tyr)
c.3220G>T (p.Asp1074Tyr)
c.3280G>T (p.Asp1094Tyr)
c.3451G>T (p.Asp1151Tyr)
c.5506G>T (p.Asp1836Tyr)
c.5566G>T (p.Asp1856Tyr)
c.5461G>T (p.Asp1821Tyr)
2g.26461708C>GCA346131272OTOFc.5521G>C (p.Asp1841His)
c.3220G>C (p.Asp1074His)
c.3280G>C (p.Asp1094His)
c.3451G>C (p.Asp1151His)
c.5506G>C (p.Asp1836His)
c.5566G>C (p.Asp1856His)
c.5461G>C (p.Asp1821His)
2g.26461708C>TCA346131270OTOFc.5521G>A (p.Asp1841Asn)
c.3220G>A (p.Asp1074Asn)
c.3280G>A (p.Asp1094Asn)
c.3451G>A (p.Asp1151Asn)
c.5506G>A (p.Asp1836Asn)
c.5566G>A (p.Asp1856Asn)
c.5461G>A (p.Asp1821Asn)
2g.26461708_26461709delinsCACA1239825389OTOFc.5520_5521delinsTG (p.Ala1840=)
c.3219_3220delinsTG (p.Ala1073=)
c.3279_3280delinsTG (p.Ala1093=)
c.3450_3451delinsTG (p.Ala1150=)
c.5505_5506delinsTG (p.Ala1835=)
c.5565_5566delinsTG (p.Ala1855=)
c.5460_5461delinsTG (p.Ala1820=)
2g.26461709delCA1562802OTOFc.5520del (p.Asp1841ThrfsTer11)
c.3219del (p.Asp1074ThrfsTer11)
c.3279del (p.Asp1094ThrfsTer11)
c.3450del (p.Asp1151ThrfsTer11)
c.5505del (p.Asp1836ThrfsTer11)
c.5565del (p.Asp1856ThrfsTer11)
c.5460del (p.Asp1821ThrfsTer11)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461709A=CA1239825390OTOFc.5520T= (p.Ala1840=)
c.3219T= (p.Ala1073=)
c.3279T= (p.Ala1093=)
c.3450T= (p.Ala1150=)
c.5505T= (p.Ala1835=)
c.5565T= (p.Ala1855=)
c.5460T= (p.Ala1820=)
2g.26461709A>CCA425359195OTOFc.5520T>G (p.Ala1840=)
c.3219T>G (p.Ala1073=)
c.3279T>G (p.Ala1093=)
c.3450T>G (p.Ala1150=)
c.5505T>G (p.Ala1835=)
c.5565T>G (p.Ala1855=)
c.5460T>G (p.Ala1820=)
 dbSNP gnomAD v2
2g.26461709A>GCA425359190OTOFc.5520T>C (p.Ala1840=)
c.3219T>C (p.Ala1073=)
c.3279T>C (p.Ala1093=)
c.3450T>C (p.Ala1150=)
c.5505T>C (p.Ala1835=)
c.5565T>C (p.Ala1855=)
c.5460T>C (p.Ala1820=)
2g.26461709A>TCA44409049OTOFc.5520T>A (p.Ala1840=)
c.3219T>A (p.Ala1073=)
c.3279T>A (p.Ala1093=)
c.3450T>A (p.Ala1150=)
c.5505T>A (p.Ala1835=)
c.5565T>A (p.Ala1855=)
c.5460T>A (p.Ala1820=)
 dbSNP gnomAD v4
2g.26461710G>ACA346131273OTOFc.5519C>T (p.Ala1840Val)
c.3218C>T (p.Ala1073Val)
c.3278C>T (p.Ala1093Val)
c.3449C>T (p.Ala1150Val)
c.5504C>T (p.Ala1835Val)
c.5564C>T (p.Ala1855Val)
c.5459C>T (p.Ala1820Val)
2g.26461710G>CCA346131274OTOFc.5519C>G (p.Ala1840Gly)
c.3218C>G (p.Ala1073Gly)
c.3278C>G (p.Ala1093Gly)
c.3449C>G (p.Ala1150Gly)
c.5504C>G (p.Ala1835Gly)
c.5564C>G (p.Ala1855Gly)
c.5459C>G (p.Ala1820Gly)
2g.26461710G>TCA346131275OTOFc.5519C>A (p.Ala1840Asp)
c.3218C>A (p.Ala1073Asp)
c.3278C>A (p.Ala1093Asp)
c.3449C>A (p.Ala1150Asp)
c.5504C>A (p.Ala1835Asp)
c.5564C>A (p.Ala1855Asp)
c.5459C>A (p.Ala1820Asp)
2g.26461711C>ACA346131277OTOFc.5518G>T (p.Ala1840Ser)
c.3217G>T (p.Ala1073Ser)
c.3277G>T (p.Ala1093Ser)
c.3448G>T (p.Ala1150Ser)
c.5503G>T (p.Ala1835Ser)
c.5563G>T (p.Ala1855Ser)
c.5458G>T (p.Ala1820Ser)
2g.26461711C=CA1239825391OTOFc.5518G= (p.Ala1840=)
c.3217G= (p.Ala1073=)
c.3277G= (p.Ala1093=)
c.3448G= (p.Ala1150=)
c.5503G= (p.Ala1835=)
c.5563G= (p.Ala1855=)
c.5458G= (p.Ala1820=)
2g.26461711C>GCA346131276OTOFc.5518G>C (p.Ala1840Pro)
c.3217G>C (p.Ala1073Pro)
c.3277G>C (p.Ala1093Pro)
c.3448G>C (p.Ala1150Pro)
c.5503G>C (p.Ala1835Pro)
c.5563G>C (p.Ala1855Pro)
c.5458G>C (p.Ala1820Pro)
2g.26461711C>TCA1562803OTOFc.5518G>A (p.Ala1840Thr)
c.3217G>A (p.Ala1073Thr)
c.3277G>A (p.Ala1093Thr)
c.3448G>A (p.Ala1150Thr)
c.5503G>A (p.Ala1835Thr)
c.5563G>A (p.Ala1855Thr)
c.5458G>A (p.Ala1820Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461712G>ACA1562804OTOFc.5517C>T (p.Ser1839=)
c.3216C>T (p.Ser1072=)
c.3276C>T (p.Ser1092=)
c.3447C>T (p.Ser1149=)
c.5502C>T (p.Ser1834=)
c.5562C>T (p.Ser1854=)
c.5457C>T (p.Ser1819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461712G>CCA425359203OTOFc.5517C>G (p.Ser1839=)
c.3216C>G (p.Ser1072=)
c.3276C>G (p.Ser1092=)
c.3447C>G (p.Ser1149=)
c.5502C>G (p.Ser1834=)
c.5562C>G (p.Ser1854=)
c.5457C>G (p.Ser1819=)
2g.26461712G=CA1239825392OTOFc.5517C= (p.Ser1839=)
c.3216C= (p.Ser1072=)
c.3276C= (p.Ser1092=)
c.3447C= (p.Ser1149=)
c.5502C= (p.Ser1834=)
c.5562C= (p.Ser1854=)
c.5457C= (p.Ser1819=)
2g.26461712G>TCA425359205OTOFc.5517C>A (p.Ser1839=)
c.3216C>A (p.Ser1072=)
c.3276C>A (p.Ser1092=)
c.3447C>A (p.Ser1149=)
c.5502C>A (p.Ser1834=)
c.5562C>A (p.Ser1854=)
c.5457C>A (p.Ser1819=)
2g.26461713G>ACA346131278OTOFc.5516C>T (p.Ser1839Phe)
c.3215C>T (p.Ser1072Phe)
c.3275C>T (p.Ser1092Phe)
c.3446C>T (p.Ser1149Phe)
c.5501C>T (p.Ser1834Phe)
c.5561C>T (p.Ser1854Phe)
c.5456C>T (p.Ser1819Phe)
2g.26461713G>CCA346131279OTOFc.5516C>G (p.Ser1839Cys)
c.3215C>G (p.Ser1072Cys)
c.3275C>G (p.Ser1092Cys)
c.3446C>G (p.Ser1149Cys)
c.5501C>G (p.Ser1834Cys)
c.5561C>G (p.Ser1854Cys)
c.5456C>G (p.Ser1819Cys)
2g.26461713G>TCA346131280OTOFc.5516C>A (p.Ser1839Tyr)
c.3215C>A (p.Ser1072Tyr)
c.3275C>A (p.Ser1092Tyr)
c.3446C>A (p.Ser1149Tyr)
c.5501C>A (p.Ser1834Tyr)
c.5561C>A (p.Ser1854Tyr)
c.5456C>A (p.Ser1819Tyr)
2g.26461714A>CCA346131281OTOFc.5515T>G (p.Ser1839Ala)
c.3214T>G (p.Ser1072Ala)
c.3274T>G (p.Ser1092Ala)
c.3445T>G (p.Ser1149Ala)
c.5500T>G (p.Ser1834Ala)
c.5560T>G (p.Ser1854Ala)
c.5455T>G (p.Ser1819Ala)
2g.26461714A>GCA346131282OTOFc.5515T>C (p.Ser1839Pro)
c.3214T>C (p.Ser1072Pro)
c.3274T>C (p.Ser1092Pro)
c.3445T>C (p.Ser1149Pro)
c.5500T>C (p.Ser1834Pro)
c.5560T>C (p.Ser1854Pro)
c.5455T>C (p.Ser1819Pro)
2g.26461714A>TCA346131283OTOFc.5515T>A (p.Ser1839Thr)
c.3214T>A (p.Ser1072Thr)
c.3274T>A (p.Ser1092Thr)
c.3445T>A (p.Ser1149Thr)
c.5500T>A (p.Ser1834Thr)
c.5560T>A (p.Ser1854Thr)
c.5455T>A (p.Ser1819Thr)
2g.26461715G>ACA425359209OTOFc.5514C>T (p.Phe1838=)
c.3213C>T (p.Phe1071=)
c.3273C>T (p.Phe1091=)
c.3444C>T (p.Phe1148=)
c.5499C>T (p.Phe1833=)
c.5559C>T (p.Phe1853=)
c.5454C>T (p.Phe1818=)
 gnomAD v4
2g.26461715G>CCA346131285OTOFc.5514C>G (p.Phe1838Leu)
c.3213C>G (p.Phe1071Leu)
c.3273C>G (p.Phe1091Leu)
c.3444C>G (p.Phe1148Leu)
c.5499C>G (p.Phe1833Leu)
c.5559C>G (p.Phe1853Leu)
c.5454C>G (p.Phe1818Leu)
2g.26461715G=CA1239825393OTOFc.5514C= (p.Phe1838=)
c.3213C= (p.Phe1071=)
c.3273C= (p.Phe1091=)
c.3444C= (p.Phe1148=)
c.5499C= (p.Phe1833=)
c.5559C= (p.Phe1853=)
c.5454C= (p.Phe1818=)
2g.26461715G>TCA346131284OTOFc.5514C>A (p.Phe1838Leu)
c.3213C>A (p.Phe1071Leu)
c.3273C>A (p.Phe1091Leu)
c.3444C>A (p.Phe1148Leu)
c.5499C>A (p.Phe1833Leu)
c.5559C>A (p.Phe1853Leu)
c.5454C>A (p.Phe1818Leu)
 dbSNP gnomAD v2
2g.26461716A>CCA346131286OTOFc.5513T>G (p.Phe1838Cys)
c.3212T>G (p.Phe1071Cys)
c.3272T>G (p.Phe1091Cys)
c.3443T>G (p.Phe1148Cys)
c.5498T>G (p.Phe1833Cys)
c.5558T>G (p.Phe1853Cys)
c.5453T>G (p.Phe1818Cys)
2g.26461716A>GCA346131288OTOFc.5513T>C (p.Phe1838Ser)
c.3212T>C (p.Phe1071Ser)
c.3272T>C (p.Phe1091Ser)
c.3443T>C (p.Phe1148Ser)
c.5498T>C (p.Phe1833Ser)
c.5558T>C (p.Phe1853Ser)
c.5453T>C (p.Phe1818Ser)
2g.26461716A>TCA346131287OTOFc.5513T>A (p.Phe1838Tyr)
c.3212T>A (p.Phe1071Tyr)
c.3272T>A (p.Phe1091Tyr)
c.3443T>A (p.Phe1148Tyr)
c.5498T>A (p.Phe1833Tyr)
c.5558T>A (p.Phe1853Tyr)
c.5453T>A (p.Phe1818Tyr)
2g.26461717A>CCA346131289OTOFc.5512T>G (p.Phe1838Val)
c.3211T>G (p.Phe1071Val)
c.3271T>G (p.Phe1091Val)
c.3442T>G (p.Phe1148Val)
c.5497T>G (p.Phe1833Val)
c.5557T>G (p.Phe1853Val)
c.5452T>G (p.Phe1818Val)
2g.26461717A>GCA346131290OTOFc.5512T>C (p.Phe1838Leu)
c.3211T>C (p.Phe1071Leu)
c.3271T>C (p.Phe1091Leu)
c.3442T>C (p.Phe1148Leu)
c.5497T>C (p.Phe1833Leu)
c.5557T>C (p.Phe1853Leu)
c.5452T>C (p.Phe1818Leu)
2g.26461717A>TCA346131291OTOFc.5512T>A (p.Phe1838Ile)
c.3211T>A (p.Phe1071Ile)
c.3271T>A (p.Phe1091Ile)
c.3442T>A (p.Phe1148Ile)
c.5497T>A (p.Phe1833Ile)
c.5557T>A (p.Phe1853Ile)
c.5452T>A (p.Phe1818Ile)
2g.26461718G>ACA425359219OTOFc.5511C>T (p.His1837=)
c.3210C>T (p.His1070=)
c.3270C>T (p.His1090=)
c.3441C>T (p.His1147=)
c.5496C>T (p.His1832=)
c.5556C>T (p.His1852=)
c.5451C>T (p.His1817=)
2g.26461718G>CCA346131292OTOFc.5511C>G (p.His1837Gln)
c.3210C>G (p.His1070Gln)
c.3270C>G (p.His1090Gln)
c.3441C>G (p.His1147Gln)
c.5496C>G (p.His1832Gln)
c.5556C>G (p.His1852Gln)
c.5451C>G (p.His1817Gln)
2g.26461718G>TCA346131293OTOFc.5511C>A (p.His1837Gln)
c.3210C>A (p.His1070Gln)
c.3270C>A (p.His1090Gln)
c.3441C>A (p.His1147Gln)
c.5496C>A (p.His1832Gln)
c.5556C>A (p.His1852Gln)
c.5451C>A (p.His1817Gln)
2g.26461719T>ACA346131294OTOFc.5510A>T (p.His1837Leu)
c.3209A>T (p.His1070Leu)
c.3269A>T (p.His1090Leu)
c.3440A>T (p.His1147Leu)
c.5495A>T (p.His1832Leu)
c.5555A>T (p.His1852Leu)
c.5450A>T (p.His1817Leu)
2g.26461719T>CCA346131295OTOFc.5510A>G (p.His1837Arg)
c.3209A>G (p.His1070Arg)
c.3269A>G (p.His1090Arg)
c.3440A>G (p.His1147Arg)
c.5495A>G (p.His1832Arg)
c.5555A>G (p.His1852Arg)
c.5450A>G (p.His1817Arg)
2g.26461719T>GCA346131296OTOFc.5510A>C (p.His1837Pro)
c.3209A>C (p.His1070Pro)
c.3269A>C (p.His1090Pro)
c.3440A>C (p.His1147Pro)
c.5495A>C (p.His1832Pro)
c.5555A>C (p.His1852Pro)
c.5450A>C (p.His1817Pro)
2g.26461720G>ACA346131297OTOFc.5509C>T (p.His1837Tyr)
c.3208C>T (p.His1070Tyr)
c.3268C>T (p.His1090Tyr)
c.3439C>T (p.His1147Tyr)
c.5494C>T (p.His1832Tyr)
c.5554C>T (p.His1852Tyr)
c.5449C>T (p.His1817Tyr)
2g.26461720G>CCA346131298OTOFc.5509C>G (p.His1837Asp)
c.3208C>G (p.His1070Asp)
c.3268C>G (p.His1090Asp)
c.3439C>G (p.His1147Asp)
c.5494C>G (p.His1832Asp)
c.5554C>G (p.His1852Asp)
c.5449C>G (p.His1817Asp)
2g.26461720G>TCA346131299OTOFc.5509C>A (p.His1837Asn)
c.3208C>A (p.His1070Asn)
c.3268C>A (p.His1090Asn)
c.3439C>A (p.His1147Asn)
c.5494C>A (p.His1832Asn)
c.5554C>A (p.His1852Asn)
c.5449C>A (p.His1817Asn)
2g.26461721G>ACA425359223OTOFc.5508C>T (p.Asp1836=)
c.3207C>T (p.Asp1069=)
c.3267C>T (p.Asp1089=)
c.3438C>T (p.Asp1146=)
c.5493C>T (p.Asp1831=)
c.5553C>T (p.Asp1851=)
c.5448C>T (p.Asp1816=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26461721G>CCA346131300OTOFc.5508C>G (p.Asp1836Glu)
c.3207C>G (p.Asp1069Glu)
c.3267C>G (p.Asp1089Glu)
c.3438C>G (p.Asp1146Glu)
c.5493C>G (p.Asp1831Glu)
c.5553C>G (p.Asp1851Glu)
c.5448C>G (p.Asp1816Glu)
2g.26461721G=CA1239825394OTOFc.5508C= (p.Asp1836=)
c.3207C= (p.Asp1069=)
c.3267C= (p.Asp1089=)
c.3438C= (p.Asp1146=)
c.5493C= (p.Asp1831=)
c.5553C= (p.Asp1851=)
c.5448C= (p.Asp1816=)
2g.26461721G>TCA346131301OTOFc.5508C>A (p.Asp1836Glu)
c.3207C>A (p.Asp1069Glu)
c.3267C>A (p.Asp1089Glu)
c.3438C>A (p.Asp1146Glu)
c.5493C>A (p.Asp1831Glu)
c.5553C>A (p.Asp1851Glu)
c.5448C>A (p.Asp1816Glu)
2g.26461722T>ACA346131302OTOFc.5507A>T (p.Asp1836Val)
c.3206A>T (p.Asp1069Val)
c.3266A>T (p.Asp1089Val)
c.3437A>T (p.Asp1146Val)
c.5492A>T (p.Asp1831Val)
c.5552A>T (p.Asp1851Val)
c.5447A>T (p.Asp1816Val)
2g.26461722T>CCA346131304OTOFc.5507A>G (p.Asp1836Gly)
c.3206A>G (p.Asp1069Gly)
c.3266A>G (p.Asp1089Gly)
c.3437A>G (p.Asp1146Gly)
c.5492A>G (p.Asp1831Gly)
c.5552A>G (p.Asp1851Gly)
c.5447A>G (p.Asp1816Gly)
2g.26461722T>GCA346131303OTOFc.5507A>C (p.Asp1836Ala)
c.3206A>C (p.Asp1069Ala)
c.3266A>C (p.Asp1089Ala)
c.3437A>C (p.Asp1146Ala)
c.5492A>C (p.Asp1831Ala)
c.5552A>C (p.Asp1851Ala)
c.5447A>C (p.Asp1816Ala)
2g.26461723C>ACA346131305OTOFc.5506G>T (p.Asp1836Tyr)
c.3205G>T (p.Asp1069Tyr)
c.3265G>T (p.Asp1089Tyr)
c.3436G>T (p.Asp1146Tyr)
c.5491G>T (p.Asp1831Tyr)
c.5551G>T (p.Asp1851Tyr)
c.5446G>T (p.Asp1816Tyr)
2g.26461723C>GCA346131306OTOFc.5506G>C (p.Asp1836His)
c.3205G>C (p.Asp1069His)
c.3265G>C (p.Asp1089His)
c.3436G>C (p.Asp1146His)
c.5491G>C (p.Asp1831His)
c.5551G>C (p.Asp1851His)
c.5446G>C (p.Asp1816His)
2g.26461723C>TCA346131307OTOFc.5506G>A (p.Asp1836Asn)
c.3205G>A (p.Asp1069Asn)
c.3265G>A (p.Asp1089Asn)
c.3436G>A (p.Asp1146Asn)
c.5491G>A (p.Asp1831Asn)
c.5551G>A (p.Asp1851Asn)
c.5446G>A (p.Asp1816Asn)
2g.26461724C>ACA425359231OTOFc.5505G>T (p.Ala1835=)
c.3204G>T (p.Ala1068=)
c.3264G>T (p.Ala1088=)
c.3435G>T (p.Ala1145=)
c.5490G>T (p.Ala1830=)
c.5550G>T (p.Ala1850=)
c.5445G>T (p.Ala1815=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461724C=CA1239825395OTOFc.5505G= (p.Ala1835=)
c.3204G= (p.Ala1068=)
c.3264G= (p.Ala1088=)
c.3435G= (p.Ala1145=)
c.5490G= (p.Ala1830=)
c.5550G= (p.Ala1850=)
c.5445G= (p.Ala1815=)
2g.26461724C>GCA425359232OTOFc.5505G>C (p.Ala1835=)
c.3204G>C (p.Ala1068=)
c.3264G>C (p.Ala1088=)
c.3435G>C (p.Ala1145=)
c.5490G>C (p.Ala1830=)
c.5550G>C (p.Ala1850=)
c.5445G>C (p.Ala1815=)
2g.26461724C>TCA1562805OTOFc.5505G>A (p.Ala1835=)
c.3204G>A (p.Ala1068=)
c.3264G>A (p.Ala1088=)
c.3435G>A (p.Ala1145=)
c.5490G>A (p.Ala1830=)
c.5550G>A (p.Ala1850=)
c.5445G>A (p.Ala1815=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461725G>ACA1562806OTOFc.5504C>T (p.Ala1835Val)
c.3203C>T (p.Ala1068Val)
c.3263C>T (p.Ala1088Val)
c.3434C>T (p.Ala1145Val)
c.5489C>T (p.Ala1830Val)
c.5549C>T (p.Ala1850Val)
c.5444C>T (p.Ala1815Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.26461725G>CCA346131308OTOFc.5504C>G (p.Ala1835Gly)
c.3203C>G (p.Ala1068Gly)
c.3263C>G (p.Ala1088Gly)
c.3434C>G (p.Ala1145Gly)
c.5489C>G (p.Ala1830Gly)
c.5549C>G (p.Ala1850Gly)
c.5444C>G (p.Ala1815Gly)
2g.26461725G=CA1239825396OTOFc.5504C= (p.Ala1835=)
c.3203C= (p.Ala1068=)
c.3263C= (p.Ala1088=)
c.3434C= (p.Ala1145=)
c.5489C= (p.Ala1830=)
c.5549C= (p.Ala1850=)
c.5444C= (p.Ala1815=)
2g.26461725G>TCA346131309OTOFc.5504C>A (p.Ala1835Glu)
c.3203C>A (p.Ala1068Glu)
c.3263C>A (p.Ala1088Glu)
c.3434C>A (p.Ala1145Glu)
c.5489C>A (p.Ala1830Glu)
c.5549C>A (p.Ala1850Glu)
c.5444C>A (p.Ala1815Glu)
2g.26461726delCA2658232582OTOFc.5503del (p.Ala1835ArgfsTer17)
c.3202del (p.Ala1068ArgfsTer17)
c.3262del (p.Ala1088ArgfsTer17)
c.3433del (p.Ala1145ArgfsTer17)
c.5488del (p.Ala1830ArgfsTer17)
c.5548del (p.Ala1850ArgfsTer17)
c.5443del (p.Ala1815ArgfsTer17)
 gnomAD v4
2g.26461726C>ACA346131310OTOFc.5503G>T (p.Ala1835Ser)
c.3202G>T (p.Ala1068Ser)
c.3262G>T (p.Ala1088Ser)
c.3433G>T (p.Ala1145Ser)
c.5488G>T (p.Ala1830Ser)
c.5548G>T (p.Ala1850Ser)
c.5443G>T (p.Ala1815Ser)
2g.26461726C>GCA346131311OTOFc.5503G>C (p.Ala1835Pro)
c.3202G>C (p.Ala1068Pro)
c.3262G>C (p.Ala1088Pro)
c.3433G>C (p.Ala1145Pro)
c.5488G>C (p.Ala1830Pro)
c.5548G>C (p.Ala1850Pro)
c.5443G>C (p.Ala1815Pro)
2g.26461726C>TCA346131312OTOFc.5503G>A (p.Ala1835Thr)
c.3202G>A (p.Ala1068Thr)
c.3262G>A (p.Ala1088Thr)
c.3433G>A (p.Ala1145Thr)
c.5488G>A (p.Ala1830Thr)
c.5548G>A (p.Ala1850Thr)
c.5443G>A (p.Ala1815Thr)
2g.26461727A=CA1239825397OTOFc.5502T= (p.Asp1834=)
c.3201T= (p.Asp1067=)
c.3261T= (p.Asp1087=)
c.3432T= (p.Asp1144=)
c.5487T= (p.Asp1829=)
c.5547T= (p.Asp1849=)
c.5442T= (p.Asp1814=)
2g.26461727A>CCA346131314OTOFc.5502T>G (p.Asp1834Glu)
c.3201T>G (p.Asp1067Glu)
c.3261T>G (p.Asp1087Glu)
c.3432T>G (p.Asp1144Glu)
c.5487T>G (p.Asp1829Glu)
c.5547T>G (p.Asp1849Glu)
c.5442T>G (p.Asp1814Glu)
2g.26461727A>GCA44409066OTOFc.5502T>C (p.Asp1834=)
c.3201T>C (p.Asp1067=)
c.3261T>C (p.Asp1087=)
c.3432T>C (p.Asp1144=)
c.5487T>C (p.Asp1829=)
c.5547T>C (p.Asp1849=)
c.5442T>C (p.Asp1814=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26461727A>TCA346131313OTOFc.5502T>A (p.Asp1834Glu)
c.3201T>A (p.Asp1067Glu)
c.3261T>A (p.Asp1087Glu)
c.3432T>A (p.Asp1144Glu)
c.5487T>A (p.Asp1829Glu)
c.5547T>A (p.Asp1849Glu)
c.5442T>A (p.Asp1814Glu)
2g.26461728T>ACA346131317OTOFc.5501A>T (p.Asp1834Val)
c.3200A>T (p.Asp1067Val)
c.3260A>T (p.Asp1087Val)
c.3431A>T (p.Asp1144Val)
c.5486A>T (p.Asp1829Val)
c.5546A>T (p.Asp1849Val)
c.5441A>T (p.Asp1814Val)
2g.26461728T>CCA346131315OTOFc.5501A>G (p.Asp1834Gly)
c.3200A>G (p.Asp1067Gly)
c.3260A>G (p.Asp1087Gly)
c.3431A>G (p.Asp1144Gly)
c.5486A>G (p.Asp1829Gly)
c.5546A>G (p.Asp1849Gly)
c.5441A>G (p.Asp1814Gly)
2g.26461728T>GCA346131316OTOFc.5501A>C (p.Asp1834Ala)
c.3200A>C (p.Asp1067Ala)
c.3260A>C (p.Asp1087Ala)
c.3431A>C (p.Asp1144Ala)
c.5486A>C (p.Asp1829Ala)
c.5546A>C (p.Asp1849Ala)
c.5441A>C (p.Asp1814Ala)
2g.26461729C>ACA346131318OTOFc.5500G>T (p.Asp1834Tyr)
c.3199G>T (p.Asp1067Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3430G>T (p.Asp1144Tyr)
c.5485G>T (p.Asp1829Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5440G>T (p.Asp1814Tyr)
2g.26461729C>GCA346131319OTOFc.5500G>C (p.Asp1834His)
c.3199G>C (p.Asp1067His)
c.3259G>C (p.Asp1087His)
c.3430G>C (p.Asp1144His)
c.5485G>C (p.Asp1829His)
c.5545G>C (p.Asp1849His)
c.5440G>C (p.Asp1814His)
2g.26461729C>TCA346131320OTOFc.5500G>A (p.Asp1834Asn)
c.3199G>A (p.Asp1067Asn)
c.3259G>A (p.Asp1087Asn)
c.3430G>A (p.Asp1144Asn)
c.5485G>A (p.Asp1829Asn)
c.5545G>A (p.Asp1849Asn)
c.5440G>A (p.Asp1814Asn)
 gnomAD v4
2g.26461731delCA2586968799OTOFc.5500del (p.Asp1834MetfsTer18)
c.3199del (p.Asp1067MetfsTer18)
c.3259del (p.Asp1087MetfsTer18)
c.3430del (p.Asp1144MetfsTer18)
c.5485del (p.Asp1829MetfsTer18)
c.5545del (p.Asp1849MetfsTer18)
c.5440del (p.Asp1814MetfsTer18)
2g.26461730C>ACA346131321OTOFc.5499G>T (p.Trp1833Cys)
c.3198G>T (p.Trp1066Cys)
c.3258G>T (p.Trp1086Cys)
c.3429G>T (p.Trp1143Cys)
c.5484G>T (p.Trp1828Cys)
c.5544G>T (p.Trp1848Cys)
c.5439G>T (p.Trp1813Cys)
 COSMIC COSMIC COSMIC
2g.26461730C>GCA346131322OTOFc.5499G>C (p.Trp1833Cys)
c.3198G>C (p.Trp1066Cys)
c.3258G>C (p.Trp1086Cys)
c.3429G>C (p.Trp1143Cys)
c.5484G>C (p.Trp1828Cys)
c.5544G>C (p.Trp1848Cys)
c.5439G>C (p.Trp1813Cys)
2g.26461730C>TCA346131323OTOFc.5499G>A (p.Trp1833Ter)
c.3198G>A (p.Trp1066Ter)
c.3258G>A (p.Trp1086Ter)
c.3429G>A (p.Trp1143Ter)
c.5484G>A (p.Trp1828Ter)
c.5544G>A (p.Trp1848Ter)
c.5439G>A (p.Trp1813Ter)
 gnomAD v4
2g.26461731C>ACA346131324OTOFc.5498G>T (p.Trp1833Leu)
c.3197G>T (p.Trp1066Leu)
c.3257G>T (p.Trp1086Leu)
c.3428G>T (p.Trp1143Leu)
c.5483G>T (p.Trp1828Leu)
c.5543G>T (p.Trp1848Leu)
c.5438G>T (p.Trp1813Leu)
 COSMIC COSMIC COSMIC
2g.26461731C>GCA346131325OTOFc.5498G>C (p.Trp1833Ser)
c.3197G>C (p.Trp1066Ser)
c.3257G>C (p.Trp1086Ser)
c.3428G>C (p.Trp1143Ser)
c.5483G>C (p.Trp1828Ser)
c.5543G>C (p.Trp1848Ser)
c.5438G>C (p.Trp1813Ser)
2g.26461731C>TCA346131326OTOFc.5498G>A (p.Trp1833Ter)
c.3197G>A (p.Trp1066Ter)
c.3257G>A (p.Trp1086Ter)
c.3428G>A (p.Trp1143Ter)
c.5483G>A (p.Trp1828Ter)
c.5543G>A (p.Trp1848Ter)
c.5438G>A (p.Trp1813Ter)
2g.26461732A>CCA346131327OTOFc.5497T>G (p.Trp1833Gly)
c.3196T>G (p.Trp1066Gly)
c.3256T>G (p.Trp1086Gly)
c.3427T>G (p.Trp1143Gly)
c.5482T>G (p.Trp1828Gly)
c.5542T>G (p.Trp1848Gly)
c.5437T>G (p.Trp1813Gly)
2g.26461732A>GCA346131328OTOFc.5497T>C (p.Trp1833Arg)
c.3196T>C (p.Trp1066Arg)
c.3256T>C (p.Trp1086Arg)
c.3427T>C (p.Trp1143Arg)
c.5482T>C (p.Trp1828Arg)
c.5542T>C (p.Trp1848Arg)
c.5437T>C (p.Trp1813Arg)
 gnomAD v4
2g.26461732A>TCA346131329OTOFc.5497T>A (p.Trp1833Arg)
c.3196T>A (p.Trp1066Arg)
c.3256T>A (p.Trp1086Arg)
c.3427T>A (p.Trp1143Arg)
c.5482T>A (p.Trp1828Arg)
c.5542T>A (p.Trp1848Arg)
c.5437T>A (p.Trp1813Arg)
2g.26461733G>ACA425359249OTOFc.5496C>T (p.Ile1832=)
c.3195C>T (p.Ile1065=)
c.3255C>T (p.Ile1085=)
c.3426C>T (p.Ile1142=)
c.5481C>T (p.Ile1827=)
c.5541C>T (p.Ile1847=)
c.5436C>T (p.Ile1812=)
 dbSNP
2g.26461733G>CCA346131330OTOFc.5496C>G (p.Ile1832Met)
c.3195C>G (p.Ile1065Met)
c.3255C>G (p.Ile1085Met)
c.3426C>G (p.Ile1142Met)
c.5481C>G (p.Ile1827Met)
c.5541C>G (p.Ile1847Met)
c.5436C>G (p.Ile1812Met)
2g.26461733G=CA1239825398OTOFc.5496C= (p.Ile1832=)
c.3195C= (p.Ile1065=)
c.3255C= (p.Ile1085=)
c.3426C= (p.Ile1142=)
c.5481C= (p.Ile1827=)
c.5541C= (p.Ile1847=)
c.5436C= (p.Ile1812=)
2g.26461733G>TCA425359253OTOFc.5496C>A (p.Ile1832=)
c.3195C>A (p.Ile1065=)
c.3255C>A (p.Ile1085=)
c.3426C>A (p.Ile1142=)
c.5481C>A (p.Ile1827=)
c.5541C>A (p.Ile1847=)
c.5436C>A (p.Ile1812=)
2g.26461734A>CCA346131331OTOFc.5495T>G (p.Ile1832Ser)
c.3194T>G (p.Ile1065Ser)
c.3254T>G (p.Ile1085Ser)
c.3425T>G (p.Ile1142Ser)
c.5480T>G (p.Ile1827Ser)
c.5540T>G (p.Ile1847Ser)
c.5435T>G (p.Ile1812Ser)
2g.26461734A>GCA346131332OTOFc.5495T>C (p.Ile1832Thr)
c.3194T>C (p.Ile1065Thr)
c.3254T>C (p.Ile1085Thr)
c.3425T>C (p.Ile1142Thr)
c.5480T>C (p.Ile1827Thr)
c.5540T>C (p.Ile1847Thr)
c.5435T>C (p.Ile1812Thr)
 gnomAD v4
2g.26461734A>TCA346131333OTOFc.5495T>A (p.Ile1832Asn)
c.3194T>A (p.Ile1065Asn)
c.3254T>A (p.Ile1085Asn)
c.3425T>A (p.Ile1142Asn)
c.5480T>A (p.Ile1827Asn)
c.5540T>A (p.Ile1847Asn)
c.5435T>A (p.Ile1812Asn)
2g.26461735T>ACA346131334OTOFc.5494A>T (p.Ile1832Phe)
c.3193A>T (p.Ile1065Phe)
c.3253A>T (p.Ile1085Phe)
c.3424A>T (p.Ile1142Phe)
c.5479A>T (p.Ile1827Phe)
c.5539A>T (p.Ile1847Phe)
c.5434A>T (p.Ile1812Phe)
2g.26461735T>CCA346131335OTOFc.5494A>G (p.Ile1832Val)
c.3193A>G (p.Ile1065Val)
c.3253A>G (p.Ile1085Val)
c.3424A>G (p.Ile1142Val)
c.5479A>G (p.Ile1827Val)
c.5539A>G (p.Ile1847Val)
c.5434A>G (p.Ile1812Val)
 gnomAD v4
2g.26461735T>GCA346131336OTOFc.5494A>C (p.Ile1832Leu)
c.3193A>C (p.Ile1065Leu)
c.3253A>C (p.Ile1085Leu)
c.3424A>C (p.Ile1142Leu)
c.5479A>C (p.Ile1827Leu)
c.5539A>C (p.Ile1847Leu)
c.5434A>C (p.Ile1812Leu)
2g.26461736C>ACA346131337OTOFc.5493G>T (p.Gln1831His)
c.3192G>T (p.Gln1064His)
c.3252G>T (p.Gln1084His)
c.3423G>T (p.Gln1141His)
c.5478G>T (p.Gln1826His)
c.5538G>T (p.Gln1846His)
c.5433G>T (p.Gln1811His)
2g.26461736C=CA1239825399OTOFc.5493G= (p.Gln1831=)
c.3192G= (p.Gln1064=)
c.3252G= (p.Gln1084=)
c.3423G= (p.Gln1141=)
c.5478G= (p.Gln1826=)
c.5538G= (p.Gln1846=)
c.5433G= (p.Gln1811=)
2g.26461736C>GCA346131338OTOFc.5493G>C (p.Gln1831His)
c.3192G>C (p.Gln1064His)
c.3252G>C (p.Gln1084His)
c.3423G>C (p.Gln1141His)
c.5478G>C (p.Gln1826His)
c.5538G>C (p.Gln1846His)
c.5433G>C (p.Gln1811His)
2g.26461736C>TCA425359255OTOFc.5493G>A (p.Gln1831=)
c.3192G>A (p.Gln1064=)
c.3252G>A (p.Gln1084=)
c.3423G>A (p.Gln1141=)
c.5478G>A (p.Gln1826=)
c.5538G>A (p.Gln1846=)
c.5433G>A (p.Gln1811=)
 dbSNP gnomAD v2
2g.26461737T>ACA346131339OTOFc.5492A>T (p.Gln1831Leu)
c.3191A>T (p.Gln1064Leu)
c.3251A>T (p.Gln1084Leu)
c.3422A>T (p.Gln1141Leu)
c.5477A>T (p.Gln1826Leu)
c.5537A>T (p.Gln1846Leu)
c.5432A>T (p.Gln1811Leu)
2g.26461737T>CCA346131340OTOFc.5492A>G (p.Gln1831Arg)
c.3191A>G (p.Gln1064Arg)
c.3251A>G (p.Gln1084Arg)
c.3422A>G (p.Gln1141Arg)
c.5477A>G (p.Gln1826Arg)
c.5537A>G (p.Gln1846Arg)
c.5432A>G (p.Gln1811Arg)
2g.26461737T>GCA346131341OTOFc.5492A>C (p.Gln1831Pro)
c.3191A>C (p.Gln1064Pro)
c.3251A>C (p.Gln1084Pro)
c.3422A>C (p.Gln1141Pro)
c.5477A>C (p.Gln1826Pro)
c.5537A>C (p.Gln1846Pro)
c.5432A>C (p.Gln1811Pro)
2g.26461738G>ACA346131342OTOFc.5491C>T (p.Gln1831Ter)
c.3190C>T (p.Gln1064Ter)
c.3250C>T (p.Gln1084Ter)
c.3421C>T (p.Gln1141Ter)
c.5476C>T (p.Gln1826Ter)
c.5536C>T (p.Gln1846Ter)
c.5431C>T (p.Gln1811Ter)
2g.26461738G>CCA346131343OTOFc.5491C>G (p.Gln1831Glu)
c.3190C>G (p.Gln1064Glu)
c.3250C>G (p.Gln1084Glu)
c.3421C>G (p.Gln1141Glu)
c.5476C>G (p.Gln1826Glu)
c.5536C>G (p.Gln1846Glu)
c.5431C>G (p.Gln1811Glu)
2g.26461738G>TCA346131344OTOFc.5491C>A (p.Gln1831Lys)
c.3190C>A (p.Gln1064Lys)
c.3250C>A (p.Gln1084Lys)
c.3421C>A (p.Gln1141Lys)
c.5476C>A (p.Gln1826Lys)
c.5536C>A (p.Gln1846Lys)
c.5431C>A (p.Gln1811Lys)
2g.26461739C>ACA425359260OTOFc.5490G>T (p.Leu1830=)
c.3189G>T (p.Leu1063=)
c.3249G>T (p.Leu1083=)
c.3420G>T (p.Leu1140=)
c.5475G>T (p.Leu1825=)
c.5535G>T (p.Leu1845=)
c.5430G>T (p.Leu1810=)
2g.26461739C>GCA425359261OTOFc.5490G>C (p.Leu1830=)
c.3189G>C (p.Leu1063=)
c.3249G>C (p.Leu1083=)
c.3420G>C (p.Leu1140=)
c.5475G>C (p.Leu1825=)
c.5535G>C (p.Leu1845=)
c.5430G>C (p.Leu1810=)
2g.26461739C>TCA425359262OTOFc.5490G>A (p.Leu1830=)
c.3189G>A (p.Leu1063=)
c.3249G>A (p.Leu1083=)
c.3420G>A (p.Leu1140=)
c.5475G>A (p.Leu1825=)
c.5535G>A (p.Leu1845=)
c.5430G>A (p.Leu1810=)
2g.26461740A>CCA346131346OTOFc.5489T>G (p.Leu1830Arg)
c.3188T>G (p.Leu1063Arg)
c.3248T>G (p.Leu1083Arg)
c.3419T>G (p.Leu1140Arg)
c.5474T>G (p.Leu1825Arg)
c.5534T>G (p.Leu1845Arg)
c.5429T>G (p.Leu1810Arg)
2g.26461740A>GCA346131347OTOFc.5489T>C (p.Leu1830Pro)
c.3188T>C (p.Leu1063Pro)
c.3248T>C (p.Leu1083Pro)
c.3419T>C (p.Leu1140Pro)
c.5474T>C (p.Leu1825Pro)
c.5534T>C (p.Leu1845Pro)
c.5429T>C (p.Leu1810Pro)
2g.26461740A>TCA346131345OTOFc.5489T>A (p.Leu1830Gln)
c.3188T>A (p.Leu1063Gln)
c.3248T>A (p.Leu1083Gln)
c.3419T>A (p.Leu1140Gln)
c.5474T>A (p.Leu1825Gln)
c.5534T>A (p.Leu1845Gln)
c.5429T>A (p.Leu1810Gln)
2g.26461741G>ACA425359266OTOFc.5488C>T (p.Leu1830=)
c.3187C>T (p.Leu1063=)
c.3247C>T (p.Leu1083=)
c.3418C>T (p.Leu1140=)
c.5473C>T (p.Leu1825=)
c.5533C>T (p.Leu1845=)
c.5428C>T (p.Leu1810=)
2g.26461741G>CCA346131348OTOFc.5488C>G (p.Leu1830Val)
c.3187C>G (p.Leu1063Val)
c.3247C>G (p.Leu1083Val)
c.3418C>G (p.Leu1140Val)
c.5473C>G (p.Leu1825Val)
c.5533C>G (p.Leu1845Val)
c.5428C>G (p.Leu1810Val)
2g.26461741G>TCA346131349OTOFc.5488C>A (p.Leu1830Met)
c.3187C>A (p.Leu1063Met)
c.3247C>A (p.Leu1083Met)
c.3418C>A (p.Leu1140Met)
c.5473C>A (p.Leu1825Met)
c.5533C>A (p.Leu1845Met)
c.5428C>A (p.Leu1810Met)
 COSMIC COSMIC
2g.26461742G>ACA1562807OTOFc.5487C>T (p.Thr1829=)
c.3186C>T (p.Thr1062=)
c.3246C>T (p.Thr1082=)
c.3417C>T (p.Thr1139=)
c.5472C>T (p.Thr1824=)
c.5532C>T (p.Thr1844=)
c.5427C>T (p.Thr1809=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461742G>CCA425359267OTOFc.5487C>G (p.Thr1829=)
c.3186C>G (p.Thr1062=)
c.3246C>G (p.Thr1082=)
c.3417C>G (p.Thr1139=)
c.5472C>G (p.Thr1824=)
c.5532C>G (p.Thr1844=)
c.5427C>G (p.Thr1809=)
2g.26461742G=CA1239825400OTOFc.5487C= (p.Thr1829=)
c.3186C= (p.Thr1062=)
c.3246C= (p.Thr1082=)
c.3417C= (p.Thr1139=)
c.5472C= (p.Thr1824=)
c.5532C= (p.Thr1844=)
c.5427C= (p.Thr1809=)
2g.26461742G>TCA425359268OTOFc.5487C>A (p.Thr1829=)
c.3186C>A (p.Thr1062=)
c.3246C>A (p.Thr1082=)
c.3417C>A (p.Thr1139=)
c.5472C>A (p.Thr1824=)
c.5532C>A (p.Thr1844=)
c.5427C>A (p.Thr1809=)
2g.26461743G>ACA346131350OTOFc.5486C>T (p.Thr1829Ile)
c.3185C>T (p.Thr1062Ile)
c.3245C>T (p.Thr1082Ile)
c.3416C>T (p.Thr1139Ile)
c.5471C>T (p.Thr1824Ile)
c.5531C>T (p.Thr1844Ile)
c.5426C>T (p.Thr1809Ile)
 dbSNP
2g.26461743G>CCA346131351OTOFc.5486C>G (p.Thr1829Ser)
c.3185C>G (p.Thr1062Ser)
c.3245C>G (p.Thr1082Ser)
c.3416C>G (p.Thr1139Ser)
c.5471C>G (p.Thr1824Ser)
c.5531C>G (p.Thr1844Ser)
c.5426C>G (p.Thr1809Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461743G=CA1239825401OTOFc.5486C= (p.Thr1829=)
c.3185C= (p.Thr1062=)
c.3245C= (p.Thr1082=)
c.3416C= (p.Thr1139=)
c.5471C= (p.Thr1824=)
c.5531C= (p.Thr1844=)
c.5426C= (p.Thr1809=)
2g.26461743G>TCA346131352OTOFc.5486C>A (p.Thr1829Asn)
c.3185C>A (p.Thr1062Asn)
c.3245C>A (p.Thr1082Asn)
c.3416C>A (p.Thr1139Asn)
c.5471C>A (p.Thr1824Asn)
c.5531C>A (p.Thr1844Asn)
c.5426C>A (p.Thr1809Asn)
 gnomAD v4
2g.26461744T>ACA346131353OTOFc.5485A>T (p.Thr1829Ser)
c.3184A>T (p.Thr1062Ser)
c.3244A>T (p.Thr1082Ser)
c.3415A>T (p.Thr1139Ser)
c.5470A>T (p.Thr1824Ser)
c.5530A>T (p.Thr1844Ser)
c.5425A>T (p.Thr1809Ser)
2g.26461744T>CCA346131354OTOFc.5485A>G (p.Thr1829Ala)
c.3184A>G (p.Thr1062Ala)
c.3244A>G (p.Thr1082Ala)
c.3415A>G (p.Thr1139Ala)
c.5470A>G (p.Thr1824Ala)
c.5530A>G (p.Thr1844Ala)
c.5425A>G (p.Thr1809Ala)
 dbSNP
2g.26461744T>GCA346131355OTOFc.5485A>C (p.Thr1829Pro)
c.3184A>C (p.Thr1062Pro)
c.3244A>C (p.Thr1082Pro)
c.3415A>C (p.Thr1139Pro)
c.5470A>C (p.Thr1824Pro)
c.5530A>C (p.Thr1844Pro)
c.5425A>C (p.Thr1809Pro)
2g.26461744T=CA1239825402OTOFc.5485A= (p.Thr1829=)
c.3184A= (p.Thr1062=)
c.3244A= (p.Thr1082=)
c.3415A= (p.Thr1139=)
c.5470A= (p.Thr1824=)
c.5530A= (p.Thr1844=)
c.5425A= (p.Thr1809=)
2g.26461745G>ACA1562808OTOFc.5484C>T (p.Leu1828=)
c.3183C>T (p.Leu1061=)
c.3243C>T (p.Leu1081=)
c.3414C>T (p.Leu1138=)
c.5469C>T (p.Leu1823=)
c.5529C>T (p.Leu1843=)
c.5424C>T (p.Leu1808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461745G>CCA425359280OTOFc.5484C>G (p.Leu1828=)
c.3183C>G (p.Leu1061=)
c.3243C>G (p.Leu1081=)
c.3414C>G (p.Leu1138=)
c.5469C>G (p.Leu1823=)
c.5529C>G (p.Leu1843=)
c.5424C>G (p.Leu1808=)
 COSMIC COSMIC COSMIC
2g.26461745G=CA1239825403OTOFc.5484C= (p.Leu1828=)
c.3183C= (p.Leu1061=)
c.3243C= (p.Leu1081=)
c.3414C= (p.Leu1138=)
c.5469C= (p.Leu1823=)
c.5529C= (p.Leu1843=)
c.5424C= (p.Leu1808=)
2g.26461745G>TCA425359282OTOFc.5484C>A (p.Leu1828=)
c.3183C>A (p.Leu1061=)
c.3243C>A (p.Leu1081=)
c.3414C>A (p.Leu1138=)
c.5469C>A (p.Leu1823=)
c.5529C>A (p.Leu1843=)
c.5424C>A (p.Leu1808=)
2g.26461746A>CCA346131356OTOFc.5483T>G (p.Leu1828Arg)
c.3182T>G (p.Leu1061Arg)
c.3242T>G (p.Leu1081Arg)
c.3413T>G (p.Leu1138Arg)
c.5468T>G (p.Leu1823Arg)
c.5528T>G (p.Leu1843Arg)
c.5423T>G (p.Leu1808Arg)
2g.26461746A>GCA346131357OTOFc.5483T>C (p.Leu1828Pro)
c.3182T>C (p.Leu1061Pro)
c.3242T>C (p.Leu1081Pro)
c.3413T>C (p.Leu1138Pro)
c.5468T>C (p.Leu1823Pro)
c.5528T>C (p.Leu1843Pro)
c.5423T>C (p.Leu1808Pro)
2g.26461746A>TCA346131358OTOFc.5483T>A (p.Leu1828His)
c.3182T>A (p.Leu1061His)
c.3242T>A (p.Leu1081His)
c.3413T>A (p.Leu1138His)
c.5468T>A (p.Leu1823His)
c.5528T>A (p.Leu1843His)
c.5423T>A (p.Leu1808His)
2g.26461747G>ACA346131359OTOFc.5482C>T (p.Leu1828Phe)
c.3181C>T (p.Leu1061Phe)
c.3241C>T (p.Leu1081Phe)
c.3412C>T (p.Leu1138Phe)
c.5467C>T (p.Leu1823Phe)
c.5527C>T (p.Leu1843Phe)
c.5422C>T (p.Leu1808Phe)
2g.26461747G>CCA346131360OTOFc.5482C>G (p.Leu1828Val)
c.3181C>G (p.Leu1061Val)
c.3241C>G (p.Leu1081Val)
c.3412C>G (p.Leu1138Val)
c.5467C>G (p.Leu1823Val)
c.5527C>G (p.Leu1843Val)
c.5422C>G (p.Leu1808Val)
2g.26461747G>TCA346131361OTOFc.5482C>A (p.Leu1828Ile)
c.3181C>A (p.Leu1061Ile)
c.3241C>A (p.Leu1081Ile)
c.3412C>A (p.Leu1138Ile)
c.5467C>A (p.Leu1823Ile)
c.5527C>A (p.Leu1843Ile)
c.5422C>A (p.Leu1808Ile)
2g.26461748C>ACA425359286OTOFc.5481G>T (p.Arg1827=)
c.3180G>T (p.Arg1060=)
c.3240G>T (p.Arg1080=)
c.3411G>T (p.Arg1137=)
c.5466G>T (p.Arg1822=)
c.5526G>T (p.Arg1842=)
c.5421G>T (p.Arg1807=)
2g.26461748C>GCA425359287OTOFc.5481G>C (p.Arg1827=)
c.3180G>C (p.Arg1060=)
c.3240G>C (p.Arg1080=)
c.3411G>C (p.Arg1137=)
c.5466G>C (p.Arg1822=)
c.5526G>C (p.Arg1842=)
c.5421G>C (p.Arg1807=)
2g.26461748C>TCA425359288OTOFc.5481G>A (p.Arg1827=)
c.3180G>A (p.Arg1060=)
c.3240G>A (p.Arg1080=)
c.3411G>A (p.Arg1137=)
c.5466G>A (p.Arg1822=)
c.5526G>A (p.Arg1842=)
c.5421G>A (p.Arg1807=)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461749C>ACA346131362OTOFc.5480G>T (p.Arg1827Leu)
c.3179G>T (p.Arg1060Leu)
c.3239G>T (p.Arg1080Leu)
c.3410G>T (p.Arg1137Leu)
c.5465G>T (p.Arg1822Leu)
c.5525G>T (p.Arg1842Leu)
c.5420G>T (p.Arg1807Leu)
2g.26461749C=CA1239825404OTOFc.5480G= (p.Arg1827=)
c.3179G= (p.Arg1060=)
c.3239G= (p.Arg1080=)
c.3410G= (p.Arg1137=)
c.5465G= (p.Arg1822=)
c.5525G= (p.Arg1842=)
c.5420G= (p.Arg1807=)
2g.26461749C>GCA346131363OTOFc.5480G>C (p.Arg1827Pro)
c.3179G>C (p.Arg1060Pro)
c.3239G>C (p.Arg1080Pro)
c.3410G>C (p.Arg1137Pro)
c.5465G>C (p.Arg1822Pro)
c.5525G>C (p.Arg1842Pro)
c.5420G>C (p.Arg1807Pro)
2g.26461749C>TCA1562809OTOFc.5480G>A (p.Arg1827Gln)
c.3179G>A (p.Arg1060Gln)
c.3239G>A (p.Arg1080Gln)
c.3410G>A (p.Arg1137Gln)
c.5465G>A (p.Arg1822Gln)
c.5525G>A (p.Arg1842Gln)
c.5420G>A (p.Arg1807Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461750G>ACA1562811OTOFc.5479C>T (p.Arg1827Trp)
c.3178C>T (p.Arg1060Trp)
c.3238C>T (p.Arg1080Trp)
c.3409C>T (p.Arg1137Trp)
c.5464C>T (p.Arg1822Trp)
c.5524C>T (p.Arg1842Trp)
c.5419C>T (p.Arg1807Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461750G>CCA346131364OTOFc.5479C>G (p.Arg1827Gly)
c.3178C>G (p.Arg1060Gly)
c.3238C>G (p.Arg1080Gly)
c.3409C>G (p.Arg1137Gly)
c.5464C>G (p.Arg1822Gly)
c.5524C>G (p.Arg1842Gly)
c.5419C>G (p.Arg1807Gly)
2g.26461750G=CA1239825405OTOFc.5479C= (p.Arg1827=)
c.3178C= (p.Arg1060=)
c.3238C= (p.Arg1080=)
c.3409C= (p.Arg1137=)
c.5464C= (p.Arg1822=)
c.5524C= (p.Arg1842=)
c.5419C= (p.Arg1807=)
2g.26461750G>TCA1562810OTOFc.5479C>A (p.Arg1827=)
c.3178C>A (p.Arg1060=)
c.3238C>A (p.Arg1080=)
c.3409C>A (p.Arg1137=)
c.5464C>A (p.Arg1822=)
c.5524C>A (p.Arg1842=)
c.5419C>A (p.Arg1807=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461751C>ACA425359294OTOFc.5478G>T (p.Ala1826=)
c.3177G>T (p.Ala1059=)
c.3237G>T (p.Ala1079=)
c.3408G>T (p.Ala1136=)
c.5463G>T (p.Ala1821=)
c.5523G>T (p.Ala1841=)
c.5418G>T (p.Ala1806=)
2g.26461751C=CA1239825407OTOFc.5478G= (p.Ala1826=)
c.3177G= (p.Ala1059=)
c.3237G= (p.Ala1079=)
c.3408G= (p.Ala1136=)
c.5463G= (p.Ala1821=)
c.5523G= (p.Ala1841=)
c.5418G= (p.Ala1806=)
2g.26461751C>GCA425359293OTOFc.5478G>C (p.Ala1826=)
c.3177G>C (p.Ala1059=)
c.3237G>C (p.Ala1079=)
c.3408G>C (p.Ala1136=)
c.5463G>C (p.Ala1821=)
c.5523G>C (p.Ala1841=)
c.5418G>C (p.Ala1806=)
2g.26461751C>TCA425359292OTOFc.5478G>A (p.Ala1826=)
c.3177G>A (p.Ala1059=)
c.3237G>A (p.Ala1079=)
c.3408G>A (p.Ala1136=)
c.5463G>A (p.Ala1821=)
c.5523G>A (p.Ala1841=)
c.5418G>A (p.Ala1806=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461751_26461752delinsCGCA1239825406OTOFc.5477_5478delinsCG (p.Ala1826=)
c.3176_3177delinsCG (p.Ala1059=)
c.3236_3237delinsCG (p.Ala1079=)
c.3407_3408delinsCG (p.Ala1136=)
c.5462_5463delinsCG (p.Ala1821=)
c.5522_5523delinsCG (p.Ala1841=)
c.5417_5418delinsCG (p.Ala1806=)
2g.26461752delCA1239825408OTOFc.5477del (p.Ala1826GlyfsTer26)
c.3176del (p.Ala1059GlyfsTer26)
c.3236del (p.Ala1079GlyfsTer26)
c.3407del (p.Ala1136GlyfsTer26)
c.5462del (p.Ala1821GlyfsTer26)
c.5522del (p.Ala1841GlyfsTer26)
c.5417del (p.Ala1806GlyfsTer26)
 dbSNP
2g.26461752G>ACA1562812OTOFc.5477C>T (p.Ala1826Val)
c.3176C>T (p.Ala1059Val)
c.3236C>T (p.Ala1079Val)
c.3407C>T (p.Ala1136Val)
c.5462C>T (p.Ala1821Val)
c.5522C>T (p.Ala1841Val)
c.5417C>T (p.Ala1806Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461752G>CCA346131365OTOFc.5477C>G (p.Ala1826Gly)
c.3176C>G (p.Ala1059Gly)
c.3236C>G (p.Ala1079Gly)
c.3407C>G (p.Ala1136Gly)
c.5462C>G (p.Ala1821Gly)
c.5522C>G (p.Ala1841Gly)
c.5417C>G (p.Ala1806Gly)
2g.26461752G=CA1239825409OTOFc.5477C= (p.Ala1826=)
c.3176C= (p.Ala1059=)
c.3236C= (p.Ala1079=)
c.3407C= (p.Ala1136=)
c.5462C= (p.Ala1821=)
c.5522C= (p.Ala1841=)
c.5417C= (p.Ala1806=)
2g.26461752G>TCA346131366OTOFc.5477C>A (p.Ala1826Glu)
c.3176C>A (p.Ala1059Glu)
c.3236C>A (p.Ala1079Glu)
c.3407C>A (p.Ala1136Glu)
c.5462C>A (p.Ala1821Glu)
c.5522C>A (p.Ala1841Glu)
c.5417C>A (p.Ala1806Glu)
2g.26461753C>ACA346131367OTOFc.5476G>T (p.Ala1826Ser)
c.3175G>T (p.Ala1059Ser)
c.3235G>T (p.Ala1079Ser)
c.3406G>T (p.Ala1136Ser)
c.5461G>T (p.Ala1821Ser)
c.5521G>T (p.Ala1841Ser)
c.5416G>T (p.Ala1806Ser)
 dbSNP gnomAD v4
2g.26461753C=CA1239825410OTOFc.5476G= (p.Ala1826=)
c.3175G= (p.Ala1059=)
c.3235G= (p.Ala1079=)
c.3406G= (p.Ala1136=)
c.5461G= (p.Ala1821=)
c.5521G= (p.Ala1841=)
c.5416G= (p.Ala1806=)
2g.26461753C>GCA346131368OTOFc.5476G>C (p.Ala1826Pro)
c.3175G>C (p.Ala1059Pro)
c.3235G>C (p.Ala1079Pro)
c.3406G>C (p.Ala1136Pro)
c.5461G>C (p.Ala1821Pro)
c.5521G>C (p.Ala1841Pro)
c.5416G>C (p.Ala1806Pro)
2g.26461753C>TCA1562813OTOFc.5476G>A (p.Ala1826Thr)
c.3175G>A (p.Ala1059Thr)
c.3235G>A (p.Ala1079Thr)
c.3406G>A (p.Ala1136Thr)
c.5461G>A (p.Ala1821Thr)
c.5521G>A (p.Ala1841Thr)
c.5416G>A (p.Ala1806Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461754G>ACA425359300OTOFc.5475C>T (p.Pro1825=)
c.3174C>T (p.Pro1058=)
c.3234C>T (p.Pro1078=)
c.3405C>T (p.Pro1135=)
c.5460C>T (p.Pro1820=)
c.5520C>T (p.Pro1840=)
c.5415C>T (p.Pro1805=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461754G>CCA425359298OTOFc.5475C>G (p.Pro1825=)
c.3174C>G (p.Pro1058=)
c.3234C>G (p.Pro1078=)
c.3405C>G (p.Pro1135=)
c.5460C>G (p.Pro1820=)
c.5520C>G (p.Pro1840=)
c.5415C>G (p.Pro1805=)
 gnomAD v4
2g.26461754G=CA1239825411OTOFc.5475C= (p.Pro1825=)
c.3174C= (p.Pro1058=)
c.3234C= (p.Pro1078=)
c.3405C= (p.Pro1135=)
c.5460C= (p.Pro1820=)
c.5520C= (p.Pro1840=)
c.5415C= (p.Pro1805=)
2g.26461754G>TCA1562814OTOFc.5475C>A (p.Pro1825=)
c.3174C>A (p.Pro1058=)
c.3234C>A (p.Pro1078=)
c.3405C>A (p.Pro1135=)
c.5460C>A (p.Pro1820=)
c.5520C>A (p.Pro1840=)
c.5415C>A (p.Pro1805=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461755G>ACA346131371OTOFc.5474C>T (p.Pro1825Leu)
c.3173C>T (p.Pro1058Leu)
c.3233C>T (p.Pro1078Leu)
c.3404C>T (p.Pro1135Leu)
c.5459C>T (p.Pro1820Leu)
c.5519C>T (p.Pro1840Leu)
c.5414C>T (p.Pro1805Leu)
2g.26461755G>CCA346131370OTOFc.5474C>G (p.Pro1825Arg)
c.3173C>G (p.Pro1058Arg)
c.3233C>G (p.Pro1078Arg)
c.3404C>G (p.Pro1135Arg)
c.5459C>G (p.Pro1820Arg)
c.5519C>G (p.Pro1840Arg)
c.5414C>G (p.Pro1805Arg)
2g.26461755G>TCA346131369OTOFc.5474C>A (p.Pro1825His)
c.3173C>A (p.Pro1058His)
c.3233C>A (p.Pro1078His)
c.3404C>A (p.Pro1135His)
c.5459C>A (p.Pro1820His)
c.5519C>A (p.Pro1840His)
c.5414C>A (p.Pro1805His)
2g.26461756G>ACA346131372OTOFc.5473C>T (p.Pro1825Ser)
c.3172C>T (p.Pro1058Ser)
c.3232C>T (p.Pro1078Ser)
c.3403C>T (p.Pro1135Ser)
c.5458C>T (p.Pro1820Ser)
c.5518C>T (p.Pro1840Ser)
c.5413C>T (p.Pro1805Ser)
 gnomAD v4
2g.26461756G>CCA340527OTOFc.5473C>G (p.Pro1825Ala)
c.3172C>G (p.Pro1058Ala)
c.3232C>G (p.Pro1078Ala)
c.3403C>G (p.Pro1135Ala)
c.5458C>G (p.Pro1820Ala)
c.5518C>G (p.Pro1840Ala)
c.5413C>G (p.Pro1805Ala)
 ClinVar dbSNP
2g.26461756G=CA1239825412OTOFc.5473C= (p.Pro1825=)
c.3172C= (p.Pro1058=)
c.3232C= (p.Pro1078=)
c.3403C= (p.Pro1135=)
c.5458C= (p.Pro1820=)
c.5518C= (p.Pro1840=)
c.5413C= (p.Pro1805=)
2g.26461756G>TCA346131373OTOFc.5473C>A (p.Pro1825Thr)
c.3172C>A (p.Pro1058Thr)
c.3232C>A (p.Pro1078Thr)
c.3403C>A (p.Pro1135Thr)
c.5458C>A (p.Pro1820Thr)
c.5518C>A (p.Pro1840Thr)
c.5413C>A (p.Pro1805Thr)
2g.26461757G>ACA1562815OTOFc.5472C>T (p.Ile1824=)
c.3171C>T (p.Ile1057=)
c.3231C>T (p.Ile1077=)
c.3402C>T (p.Ile1134=)
c.5457C>T (p.Ile1819=)
c.5517C>T (p.Ile1839=)
c.5412C>T (p.Ile1804=)
 dbSNP ExAC gnomAD v4
2g.26461757G>CCA346131374OTOFc.5472C>G (p.Ile1824Met)
c.3171C>G (p.Ile1057Met)
c.3231C>G (p.Ile1077Met)
c.3402C>G (p.Ile1134Met)
c.5457C>G (p.Ile1819Met)
c.5517C>G (p.Ile1839Met)
c.5412C>G (p.Ile1804Met)
2g.26461757G=CA1239825413OTOFc.5472C= (p.Ile1824=)
c.3171C= (p.Ile1057=)
c.3231C= (p.Ile1077=)
c.3402C= (p.Ile1134=)
c.5457C= (p.Ile1819=)
c.5517C= (p.Ile1839=)
c.5412C= (p.Ile1804=)
2g.26461757G>TCA425359307OTOFc.5472C>A (p.Ile1824=)
c.3171C>A (p.Ile1057=)
c.3231C>A (p.Ile1077=)
c.3402C>A (p.Ile1134=)
c.5457C>A (p.Ile1819=)
c.5517C>A (p.Ile1839=)
c.5412C>A (p.Ile1804=)
 gnomAD v4
2g.26461758A=CA1239825414OTOFc.5471T= (p.Ile1824=)
c.3170T= (p.Ile1057=)
c.3230T= (p.Ile1077=)
c.3401T= (p.Ile1134=)
c.5456T= (p.Ile1819=)
c.5516T= (p.Ile1839=)
c.5411T= (p.Ile1804=)
2g.26461758A>CCA346131375OTOFc.5471T>G (p.Ile1824Ser)
c.3170T>G (p.Ile1057Ser)
c.3230T>G (p.Ile1077Ser)
c.3401T>G (p.Ile1134Ser)
c.5456T>G (p.Ile1819Ser)
c.5516T>G (p.Ile1839Ser)
c.5411T>G (p.Ile1804Ser)
2g.26461758A>GCA346131376OTOFc.5471T>C (p.Ile1824Thr)
c.3170T>C (p.Ile1057Thr)
c.3230T>C (p.Ile1077Thr)
c.3401T>C (p.Ile1134Thr)
c.5456T>C (p.Ile1819Thr)
c.5516T>C (p.Ile1839Thr)
c.5411T>C (p.Ile1804Thr)
2g.26461758A>TCA1562816OTOFc.5471T>A (p.Ile1824Asn)
c.3170T>A (p.Ile1057Asn)
c.3230T>A (p.Ile1077Asn)
c.3401T>A (p.Ile1134Asn)
c.5456T>A (p.Ile1819Asn)
c.5516T>A (p.Ile1839Asn)
c.5411T>A (p.Ile1804Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461759T>ACA346131377OTOFc.5470A>T (p.Ile1824Phe)
c.3169A>T (p.Ile1057Phe)
c.3229A>T (p.Ile1077Phe)
c.3400A>T (p.Ile1134Phe)
c.5455A>T (p.Ile1819Phe)
c.5515A>T (p.Ile1839Phe)
c.5410A>T (p.Ile1804Phe)
2g.26461759T>CCA346131378OTOFc.5470A>G (p.Ile1824Val)
c.3169A>G (p.Ile1057Val)
c.3229A>G (p.Ile1077Val)
c.3400A>G (p.Ile1134Val)
c.5455A>G (p.Ile1819Val)
c.5515A>G (p.Ile1839Val)
c.5410A>G (p.Ile1804Val)
2g.26461759T>GCA346131379OTOFc.5470A>C (p.Ile1824Leu)
c.3169A>C (p.Ile1057Leu)
c.3229A>C (p.Ile1077Leu)
c.3400A>C (p.Ile1134Leu)
c.5455A>C (p.Ile1819Leu)
c.5515A>C (p.Ile1839Leu)
c.5410A>C (p.Ile1804Leu)
 gnomAD v4
2g.26461760C>ACA346131380OTOFc.5469G>T (p.Lys1823Asn)
c.3168G>T (p.Lys1056Asn)
c.3228G>T (p.Lys1076Asn)
c.3399G>T (p.Lys1133Asn)
c.5454G>T (p.Lys1818Asn)
c.5514G>T (p.Lys1838Asn)
c.5409G>T (p.Lys1803Asn)
2g.26461760C>GCA346131381OTOFc.5469G>C (p.Lys1823Asn)
c.3168G>C (p.Lys1056Asn)
c.3228G>C (p.Lys1076Asn)
c.3399G>C (p.Lys1133Asn)
c.5454G>C (p.Lys1818Asn)
c.5514G>C (p.Lys1838Asn)
c.5409G>C (p.Lys1803Asn)
 gnomAD v4
2g.26461760C>TCA425359314OTOFc.5469G>A (p.Lys1823=)
c.3168G>A (p.Lys1056=)
c.3228G>A (p.Lys1076=)
c.3399G>A (p.Lys1133=)
c.5454G>A (p.Lys1818=)
c.5514G>A (p.Lys1838=)
c.5409G>A (p.Lys1803=)
 ClinVar
2g.26461761T>ACA346131383OTOFc.5468A>T (p.Lys1823Met)
c.3167A>T (p.Lys1056Met)
c.3227A>T (p.Lys1076Met)
c.3398A>T (p.Lys1133Met)
c.5453A>T (p.Lys1818Met)
c.5513A>T (p.Lys1838Met)
c.5408A>T (p.Lys1803Met)
2g.26461761T>CCA1562817OTOFc.5468A>G (p.Lys1823Arg)
c.3167A>G (p.Lys1056Arg)
c.3227A>G (p.Lys1076Arg)
c.3398A>G (p.Lys1133Arg)
c.5453A>G (p.Lys1818Arg)
c.5513A>G (p.Lys1838Arg)
c.5408A>G (p.Lys1803Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461761T>GCA346131382OTOFc.5468A>C (p.Lys1823Thr)
c.3167A>C (p.Lys1056Thr)
c.3227A>C (p.Lys1076Thr)
c.3398A>C (p.Lys1133Thr)
c.5453A>C (p.Lys1818Thr)
c.5513A>C (p.Lys1838Thr)
c.5408A>C (p.Lys1803Thr)
2g.26461761T=CA1239825415OTOFc.5468A= (p.Lys1823=)
c.3167A= (p.Lys1056=)
c.3227A= (p.Lys1076=)
c.3398A= (p.Lys1133=)
c.5453A= (p.Lys1818=)
c.5513A= (p.Lys1838=)
c.5408A= (p.Lys1803=)
2g.26461762T>ACA346131384OTOFc.5467A>T (p.Lys1823Ter)
c.3166A>T (p.Lys1056Ter)
c.3226A>T (p.Lys1076Ter)
c.3397A>T (p.Lys1133Ter)
c.5452A>T (p.Lys1818Ter)
c.5512A>T (p.Lys1838Ter)
c.5407A>T (p.Lys1803Ter)
2g.26461762T>CCA1562818OTOFc.5467A>G (p.Lys1823Glu)
c.3166A>G (p.Lys1056Glu)
c.3226A>G (p.Lys1076Glu)
c.3397A>G (p.Lys1133Glu)
c.5452A>G (p.Lys1818Glu)
c.5512A>G (p.Lys1838Glu)
c.5407A>G (p.Lys1803Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461762T>GCA346131385OTOFc.5467A>C (p.Lys1823Gln)
c.3166A>C (p.Lys1056Gln)
c.3226A>C (p.Lys1076Gln)
c.3397A>C (p.Lys1133Gln)
c.5452A>C (p.Lys1818Gln)
c.5512A>C (p.Lys1838Gln)
c.5407A>C (p.Lys1803Gln)
2g.26461762T=CA1239825416OTOFc.5467A= (p.Lys1823=)
c.3166A= (p.Lys1056=)
c.3226A= (p.Lys1076=)
c.3397A= (p.Lys1133=)
c.5452A= (p.Lys1818=)
c.5512A= (p.Lys1838=)
c.5407A= (p.Lys1803=)
2g.26461763G>ACA1562819OTOFc.5466C>T (p.Tyr1822=)
c.3165C>T (p.Tyr1055=)
c.3225C>T (p.Tyr1075=)
c.3396C>T (p.Tyr1132=)
c.5451C>T (p.Tyr1817=)
c.5511C>T (p.Tyr1837=)
c.5406C>T (p.Tyr1802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461763G>CCA346131386OTOFc.5466C>G (p.Tyr1822Ter)
c.3165C>G (p.Tyr1055Ter)
c.3225C>G (p.Tyr1075Ter)
c.3396C>G (p.Tyr1132Ter)
c.5451C>G (p.Tyr1817Ter)
c.5511C>G (p.Tyr1837Ter)
c.5406C>G (p.Tyr1802Ter)
 ClinVar dbSNP gnomAD v4
2g.26461763G=CA1239825417OTOFc.5466C= (p.Tyr1822=)
c.3165C= (p.Tyr1055=)
c.3225C= (p.Tyr1075=)
c.3396C= (p.Tyr1132=)
c.5451C= (p.Tyr1817=)
c.5511C= (p.Tyr1837=)
c.5406C= (p.Tyr1802=)
2g.26461763G>TCA346131387OTOFc.5466C>A (p.Tyr1822Ter)
c.3165C>A (p.Tyr1055Ter)
c.3225C>A (p.Tyr1075Ter)
c.3396C>A (p.Tyr1132Ter)
c.5451C>A (p.Tyr1817Ter)
c.5511C>A (p.Tyr1837Ter)
c.5406C>A (p.Tyr1802Ter)
2g.26461764T>ACA346131388OTOFc.5465A>T (p.Tyr1822Phe)
c.3164A>T (p.Tyr1055Phe)
c.3224A>T (p.Tyr1075Phe)
c.3395A>T (p.Tyr1132Phe)
c.5450A>T (p.Tyr1817Phe)
c.5510A>T (p.Tyr1837Phe)
c.5405A>T (p.Tyr1802Phe)
2g.26461764T>CCA346131389OTOFc.5465A>G (p.Tyr1822Cys)
c.3164A>G (p.Tyr1055Cys)
c.3224A>G (p.Tyr1075Cys)
c.3395A>G (p.Tyr1132Cys)
c.5450A>G (p.Tyr1817Cys)
c.5510A>G (p.Tyr1837Cys)
c.5405A>G (p.Tyr1802Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.26461764T>GCA346131390OTOFc.5465A>C (p.Tyr1822Ser)
c.3164A>C (p.Tyr1055Ser)
c.3224A>C (p.Tyr1075Ser)
c.3395A>C (p.Tyr1132Ser)
c.5450A>C (p.Tyr1817Ser)
c.5510A>C (p.Tyr1837Ser)
c.5405A>C (p.Tyr1802Ser)
2g.26461764T=CA1239825418OTOFc.5465A= (p.Tyr1822=)
c.3164A= (p.Tyr1055=)
c.3224A= (p.Tyr1075=)
c.3395A= (p.Tyr1132=)
c.5450A= (p.Tyr1817=)
c.5510A= (p.Tyr1837=)
c.5405A= (p.Tyr1802=)
2g.26461765A>CCA346131391OTOFc.5464T>G (p.Tyr1822Asp)
c.3163T>G (p.Tyr1055Asp)
c.3223T>G (p.Tyr1075Asp)
c.3394T>G (p.Tyr1132Asp)
c.5449T>G (p.Tyr1817Asp)
c.5509T>G (p.Tyr1837Asp)
c.5404T>G (p.Tyr1802Asp)
 gnomAD v4
2g.26461765A>GCA346131392OTOFc.5464T>C (p.Tyr1822His)
c.3163T>C (p.Tyr1055His)
c.3223T>C (p.Tyr1075His)
c.3394T>C (p.Tyr1132His)
c.5449T>C (p.Tyr1817His)
c.5509T>C (p.Tyr1837His)
c.5404T>C (p.Tyr1802His)
2g.26461765A>TCA346131393OTOFc.5464T>A (p.Tyr1822Asn)
c.3163T>A (p.Tyr1055Asn)
c.3223T>A (p.Tyr1075Asn)
c.3394T>A (p.Tyr1132Asn)
c.5449T>A (p.Tyr1817Asn)
c.5509T>A (p.Tyr1837Asn)
c.5404T>A (p.Tyr1802Asn)
2g.26461766C>ACA346131394OTOFc.5463G>T (p.Glu1821Asp)
c.3162G>T (p.Glu1054Asp)
c.3222G>T (p.Glu1074Asp)
c.3393G>T (p.Glu1131Asp)
c.5448G>T (p.Glu1816Asp)
c.5508G>T (p.Glu1836Asp)
c.5403G>T (p.Glu1801Asp)
2g.26461766C=CA1239825419OTOFc.5463G= (p.Glu1821=)
c.3162G= (p.Glu1054=)
c.3222G= (p.Glu1074=)
c.3393G= (p.Glu1131=)
c.5448G= (p.Glu1816=)
c.5508G= (p.Glu1836=)
c.5403G= (p.Glu1801=)
2g.26461766C>GCA346131395OTOFc.5463G>C (p.Glu1821Asp)
c.3162G>C (p.Glu1054Asp)
c.3222G>C (p.Glu1074Asp)
c.3393G>C (p.Glu1131Asp)
c.5448G>C (p.Glu1816Asp)
c.5508G>C (p.Glu1836Asp)
c.5403G>C (p.Glu1801Asp)
 gnomAD v4
2g.26461766C>TCA425359322OTOFc.5463G>A (p.Glu1821=)
c.3162G>A (p.Glu1054=)
c.3222G>A (p.Glu1074=)
c.3393G>A (p.Glu1131=)
c.5448G>A (p.Glu1816=)
c.5508G>A (p.Glu1836=)
c.5403G>A (p.Glu1801=)
 dbSNP gnomAD v2 gnomAD v4
2g.26461767delCA2658232620OTOFc.5462del (p.Glu1821GlyfsTer?)
c.3161del (p.Glu1054GlyfsTer?)
c.3221del (p.Glu1074GlyfsTer?)
c.3392del (p.Glu1131GlyfsTer?)
c.5447del (p.Glu1816GlyfsTer?)
c.5507del (p.Glu1836GlyfsTer?)
c.5402del (p.Glu1801GlyfsTer?)
 gnomAD v4
2g.26461767T>ACA346131396OTOFc.5462A>T (p.Glu1821Val)
c.3161A>T (p.Glu1054Val)
c.3221A>T (p.Glu1074Val)
c.3392A>T (p.Glu1131Val)
c.5447A>T (p.Glu1816Val)
c.5507A>T (p.Glu1836Val)
c.5402A>T (p.Glu1801Val)
2g.26461767T>CCA346131398OTOFc.5462A>G (p.Glu1821Gly)
c.3161A>G (p.Glu1054Gly)
c.3221A>G (p.Glu1074Gly)
c.3392A>G (p.Glu1131Gly)
c.5447A>G (p.Glu1816Gly)
c.5507A>G (p.Glu1836Gly)
c.5402A>G (p.Glu1801Gly)
2g.26461767T>GCA346131397OTOFc.5462A>C (p.Glu1821Ala)
c.3161A>C (p.Glu1054Ala)
c.3221A>C (p.Glu1074Ala)
c.3392A>C (p.Glu1131Ala)
c.5447A>C (p.Glu1816Ala)
c.5507A>C (p.Glu1836Ala)
c.5402A>C (p.Glu1801Ala)
2g.26461768C>ACA346131399OTOFc.5461G>T (p.Glu1821Ter)
c.3160G>T (p.Glu1054Ter)
c.3220G>T (p.Glu1074Ter)
c.3391G>T (p.Glu1131Ter)
c.5446G>T (p.Glu1816Ter)
c.5506G>T (p.Glu1836Ter)
c.5401G>T (p.Glu1801Ter)
2g.26461768C=CA1239825420OTOFc.5461G= (p.Glu1821=)
c.3160G= (p.Glu1054=)
c.3220G= (p.Glu1074=)
c.3391G= (p.Glu1131=)
c.5446G= (p.Glu1816=)
c.5506G= (p.Glu1836=)
c.5401G= (p.Glu1801=)
2g.26461768C>GCA346131400OTOFc.5461G>C (p.Glu1821Gln)
c.3160G>C (p.Glu1054Gln)
c.3220G>C (p.Glu1074Gln)
c.3391G>C (p.Glu1131Gln)
c.5446G>C (p.Glu1816Gln)
c.5506G>C (p.Glu1836Gln)
c.5401G>C (p.Glu1801Gln)
2g.26461768C>TCA1562820OTOFc.5461G>A (p.Glu1821Lys)
c.3160G>A (p.Glu1054Lys)
c.3220G>A (p.Glu1074Lys)
c.3391G>A (p.Glu1131Lys)
c.5446G>A (p.Glu1816Lys)
c.5506G>A (p.Glu1836Lys)
c.5401G>A (p.Glu1801Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461769G>ACA1562821OTOFc.5460C>T (p.Thr1820=)
c.3159C>T (p.Thr1053=)
c.3219C>T (p.Thr1073=)
c.3390C>T (p.Thr1130=)
c.5445C>T (p.Thr1815=)
c.5505C>T (p.Thr1835=)
c.5400C>T (p.Thr1800=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461769G>CCA425359324OTOFc.5460C>G (p.Thr1820=)
c.3159C>G (p.Thr1053=)
c.3219C>G (p.Thr1073=)
c.3390C>G (p.Thr1130=)
c.5445C>G (p.Thr1815=)
c.5505C>G (p.Thr1835=)
c.5400C>G (p.Thr1800=)
 ClinVar
2g.26461769G=CA1239825421OTOFc.5460C= (p.Thr1820=)
c.3159C= (p.Thr1053=)
c.3219C= (p.Thr1073=)
c.3390C= (p.Thr1130=)
c.5445C= (p.Thr1815=)
c.5505C= (p.Thr1835=)
c.5400C= (p.Thr1800=)
2g.26461769G>TCA1562822OTOFc.5460C>A (p.Thr1820=)
c.3159C>A (p.Thr1053=)
c.3219C>A (p.Thr1073=)
c.3390C>A (p.Thr1130=)
c.5445C>A (p.Thr1815=)
c.5505C>A (p.Thr1835=)
c.5400C>A (p.Thr1800=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461770G>ACA346131401OTOFc.5459C>T (p.Thr1820Ile)
c.3158C>T (p.Thr1053Ile)
c.3218C>T (p.Thr1073Ile)
c.3389C>T (p.Thr1130Ile)
c.5444C>T (p.Thr1815Ile)
c.5504C>T (p.Thr1835Ile)
c.5399C>T (p.Thr1800Ile)
2g.26461770G>CCA346131402OTOFc.5459C>G (p.Thr1820Ser)
c.3158C>G (p.Thr1053Ser)
c.3218C>G (p.Thr1073Ser)
c.3389C>G (p.Thr1130Ser)
c.5444C>G (p.Thr1815Ser)
c.5504C>G (p.Thr1835Ser)
c.5399C>G (p.Thr1800Ser)
2g.26461770G>TCA346131403OTOFc.5459C>A (p.Thr1820Asn)
c.3158C>A (p.Thr1053Asn)
c.3218C>A (p.Thr1073Asn)
c.3389C>A (p.Thr1130Asn)
c.5444C>A (p.Thr1815Asn)
c.5504C>A (p.Thr1835Asn)
c.5399C>A (p.Thr1800Asn)
2g.26461771T>ACA346131404OTOFc.5458A>T (p.Thr1820Ser)
c.3157A>T (p.Thr1053Ser)
c.3217A>T (p.Thr1073Ser)
c.3388A>T (p.Thr1130Ser)
c.5443A>T (p.Thr1815Ser)
c.5503A>T (p.Thr1835Ser)
c.5398A>T (p.Thr1800Ser)
2g.26461771T>CCA346131405OTOFc.5458A>G (p.Thr1820Ala)
c.3157A>G (p.Thr1053Ala)
c.3217A>G (p.Thr1073Ala)
c.3388A>G (p.Thr1130Ala)
c.5443A>G (p.Thr1815Ala)
c.5503A>G (p.Thr1835Ala)
c.5398A>G (p.Thr1800Ala)
 gnomAD v4
2g.26461771T>GCA346131406OTOFc.5458A>C (p.Thr1820Pro)
c.3157A>C (p.Thr1053Pro)
c.3217A>C (p.Thr1073Pro)
c.3388A>C (p.Thr1130Pro)
c.5443A>C (p.Thr1815Pro)
c.5503A>C (p.Thr1835Pro)
c.5398A>C (p.Thr1800Pro)
2g.26461772C>ACA346131407OTOFc.5457G>T (p.Glu1819Asp)
c.3156G>T (p.Glu1052Asp)
c.3216G>T (p.Glu1072Asp)
c.3387G>T (p.Glu1129Asp)
c.5442G>T (p.Glu1814Asp)
c.5502G>T (p.Glu1834Asp)
c.5397G>T (p.Glu1799Asp)
2g.26461772C=CA1239825422OTOFc.5457G= (p.Glu1819=)
c.3156G= (p.Glu1052=)
c.3216G= (p.Glu1072=)
c.3387G= (p.Glu1129=)
c.5442G= (p.Glu1814=)
c.5502G= (p.Glu1834=)
c.5397G= (p.Glu1799=)
2g.26461772C>GCA44409107OTOFc.5457G>C (p.Glu1819Asp)
c.3156G>C (p.Glu1052Asp)
c.3216G>C (p.Glu1072Asp)
c.3387G>C (p.Glu1129Asp)
c.5442G>C (p.Glu1814Asp)
c.5502G>C (p.Glu1834Asp)
c.5397G>C (p.Glu1799Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.26461772C>TCA425359326OTOFc.5457G>A (p.Glu1819=)
c.3156G>A (p.Glu1052=)
c.3216G>A (p.Glu1072=)
c.3387G>A (p.Glu1129=)
c.5442G>A (p.Glu1814=)
c.5502G>A (p.Glu1834=)
c.5397G>A (p.Glu1799=)
2g.26461773T>ACA346131408OTOFc.5456A>T (p.Glu1819Val)
c.3155A>T (p.Glu1052Val)
c.3215A>T (p.Glu1072Val)
c.3386A>T (p.Glu1129Val)
c.5441A>T (p.Glu1814Val)
c.5501A>T (p.Glu1834Val)
c.5396A>T (p.Glu1799Val)
2g.26461773T>CCA346131409OTOFc.5456A>G (p.Glu1819Gly)
c.3155A>G (p.Glu1052Gly)
c.3215A>G (p.Glu1072Gly)
c.3386A>G (p.Glu1129Gly)
c.5441A>G (p.Glu1814Gly)
c.5501A>G (p.Glu1834Gly)
c.5396A>G (p.Glu1799Gly)
2g.26461773T>GCA346131410OTOFc.5456A>C (p.Glu1819Ala)
c.3155A>C (p.Glu1052Ala)
c.3215A>C (p.Glu1072Ala)
c.3386A>C (p.Glu1129Ala)
c.5441A>C (p.Glu1814Ala)
c.5501A>C (p.Glu1834Ala)
c.5396A>C (p.Glu1799Ala)
2g.26461774C>ACA346131412OTOFc.5455G>T (p.Glu1819Ter)
c.3154G>T (p.Glu1052Ter)
c.3214G>T (p.Glu1072Ter)
c.3385G>T (p.Glu1129Ter)
c.5440G>T (p.Glu1814Ter)
c.5500G>T (p.Glu1834Ter)
c.5395G>T (p.Glu1799Ter)
2g.26461774C=CA1239825423OTOFc.5455G= (p.Glu1819=)
c.3154G= (p.Glu1052=)
c.3214G= (p.Glu1072=)
c.3385G= (p.Glu1129=)
c.5440G= (p.Glu1814=)
c.5500G= (p.Glu1834=)
c.5395G= (p.Glu1799=)
2g.26461774C>GCA346131411OTOFc.5455G>C (p.Glu1819Gln)
c.3154G>C (p.Glu1052Gln)
c.3214G>C (p.Glu1072Gln)
c.3385G>C (p.Glu1129Gln)
c.5440G>C (p.Glu1814Gln)
c.5500G>C (p.Glu1834Gln)
c.5395G>C (p.Glu1799Gln)
2g.26461774C>TCA1562823OTOFc.5455G>A (p.Glu1819Lys)
c.3154G>A (p.Glu1052Lys)
c.3214G>A (p.Glu1072Lys)
c.3385G>A (p.Glu1129Lys)
c.5440G>A (p.Glu1814Lys)
c.5500G>A (p.Glu1834Lys)
c.5395G>A (p.Glu1799Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461775G>ACA44409115OTOFc.5454C>T (p.Asp1818=)
c.3153C>T (p.Asp1051=)
c.3213C>T (p.Asp1071=)
c.3384C>T (p.Asp1128=)
c.5439C>T (p.Asp1813=)
c.5499C>T (p.Asp1833=)
c.5394C>T (p.Asp1798=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461775G>CCA346131413OTOFc.5454C>G (p.Asp1818Glu)
c.3153C>G (p.Asp1051Glu)
c.3213C>G (p.Asp1071Glu)
c.3384C>G (p.Asp1128Glu)
c.5439C>G (p.Asp1813Glu)
c.5499C>G (p.Asp1833Glu)
c.5394C>G (p.Asp1798Glu)
2g.26461775G=CA1239825424OTOFc.5454C= (p.Asp1818=)
c.3153C= (p.Asp1051=)
c.3213C= (p.Asp1071=)
c.3384C= (p.Asp1128=)
c.5439C= (p.Asp1813=)
c.5499C= (p.Asp1833=)
c.5394C= (p.Asp1798=)
2g.26461775G>TCA346131414OTOFc.5454C>A (p.Asp1818Glu)
c.3153C>A (p.Asp1051Glu)
c.3213C>A (p.Asp1071Glu)
c.3384C>A (p.Asp1128Glu)
c.5439C>A (p.Asp1813Glu)
c.5499C>A (p.Asp1833Glu)
c.5394C>A (p.Asp1798Glu)
2g.26461776T>ACA346131415OTOFc.5453A>T (p.Asp1818Val)
c.3152A>T (p.Asp1051Val)
c.3212A>T (p.Asp1071Val)
c.3383A>T (p.Asp1128Val)
c.5438A>T (p.Asp1813Val)
c.5498A>T (p.Asp1833Val)
c.5393A>T (p.Asp1798Val)
2g.26461776T>CCA346131416OTOFc.5453A>G (p.Asp1818Gly)
c.3152A>G (p.Asp1051Gly)
c.3212A>G (p.Asp1071Gly)
c.3383A>G (p.Asp1128Gly)
c.5438A>G (p.Asp1813Gly)
c.5498A>G (p.Asp1833Gly)
c.5393A>G (p.Asp1798Gly)
2g.26461776T>GCA346131417OTOFc.5453A>C (p.Asp1818Ala)
c.3152A>C (p.Asp1051Ala)
c.3212A>C (p.Asp1071Ala)
c.3383A>C (p.Asp1128Ala)
c.5438A>C (p.Asp1813Ala)
c.5498A>C (p.Asp1833Ala)
c.5393A>C (p.Asp1798Ala)
2g.26461777C>ACA346131418OTOFc.5452G>T (p.Asp1818Tyr)
c.3151G>T (p.Asp1051Tyr)
c.3211G>T (p.Asp1071Tyr)
c.3382G>T (p.Asp1128Tyr)
c.5437G>T (p.Asp1813Tyr)
c.5497G>T (p.Asp1833Tyr)
c.5392G>T (p.Asp1798Tyr)
 gnomAD v4
2g.26461777C>GCA346131419OTOFc.5452G>C (p.Asp1818His)
c.3151G>C (p.Asp1051His)
c.3211G>C (p.Asp1071His)
c.3382G>C (p.Asp1128His)
c.5437G>C (p.Asp1813His)
c.5497G>C (p.Asp1833His)
c.5392G>C (p.Asp1798His)
2g.26461777C>TCA346131420OTOFc.5452G>A (p.Asp1818Asn)
c.3151G>A (p.Asp1051Asn)
c.3211G>A (p.Asp1071Asn)
c.3382G>A (p.Asp1128Asn)
c.5437G>A (p.Asp1813Asn)
c.5497G>A (p.Asp1833Asn)
c.5392G>A (p.Asp1798Asn)
2g.26461778C>ACA346131421OTOFc.5451G>T (p.Trp1817Cys)
c.3150G>T (p.Trp1050Cys)
c.3210G>T (p.Trp1070Cys)
c.3381G>T (p.Trp1127Cys)
c.5436G>T (p.Trp1812Cys)
c.5496G>T (p.Trp1832Cys)
c.5391G>T (p.Trp1797Cys)
2g.26461778C>GCA346131422OTOFc.5451G>C (p.Trp1817Cys)
c.3150G>C (p.Trp1050Cys)
c.3210G>C (p.Trp1070Cys)
c.3381G>C (p.Trp1127Cys)
c.5436G>C (p.Trp1812Cys)
c.5496G>C (p.Trp1832Cys)
c.5391G>C (p.Trp1797Cys)
2g.26461778C>TCA346131423OTOFc.5451G>A (p.Trp1817Ter)
c.3150G>A (p.Trp1050Ter)
c.3210G>A (p.Trp1070Ter)
c.3381G>A (p.Trp1127Ter)
c.5436G>A (p.Trp1812Ter)
c.5496G>A (p.Trp1832Ter)
c.5391G>A (p.Trp1797Ter)
2g.26461779C>ACA346131425OTOFc.5450G>T (p.Trp1817Leu)
c.3149G>T (p.Trp1050Leu)
c.3209G>T (p.Trp1070Leu)
c.3380G>T (p.Trp1127Leu)
c.5435G>T (p.Trp1812Leu)
c.5495G>T (p.Trp1832Leu)
c.5390G>T (p.Trp1797Leu)
2g.26461779C=CA1239825425OTOFc.5450G= (p.Trp1817=)
c.3149G= (p.Trp1050=)
c.3209G= (p.Trp1070=)
c.3380G= (p.Trp1127=)
c.5435G= (p.Trp1812=)
c.5495G= (p.Trp1832=)
c.5390G= (p.Trp1797=)
2g.26461779C>GCA346131424OTOFc.5450G>C (p.Trp1817Ser)
c.3149G>C (p.Trp1050Ser)
c.3209G>C (p.Trp1070Ser)
c.3380G>C (p.Trp1127Ser)
c.5435G>C (p.Trp1812Ser)
c.5495G>C (p.Trp1832Ser)
c.5390G>C (p.Trp1797Ser)
2g.26461779C>TCA1562824OTOFc.5450G>A (p.Trp1817Ter)
c.3149G>A (p.Trp1050Ter)
c.3209G>A (p.Trp1070Ter)
c.3380G>A (p.Trp1127Ter)
c.5435G>A (p.Trp1812Ter)
c.5495G>A (p.Trp1832Ter)
c.5390G>A (p.Trp1797Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461780A=CA1239825426OTOFc.5449T= (p.Trp1817=)
c.3148T= (p.Trp1050=)
c.3208T= (p.Trp1070=)
c.3379T= (p.Trp1127=)
c.5434T= (p.Trp1812=)
c.5494T= (p.Trp1832=)
c.5389T= (p.Trp1797=)
2g.26461780A>CCA346131426OTOFc.5449T>G (p.Trp1817Gly)
c.3148T>G (p.Trp1050Gly)
c.3208T>G (p.Trp1070Gly)
c.3379T>G (p.Trp1127Gly)
c.5434T>G (p.Trp1812Gly)
c.5494T>G (p.Trp1832Gly)
c.5389T>G (p.Trp1797Gly)
2g.26461780A>GCA346131427OTOFc.5449T>C (p.Trp1817Arg)
c.3148T>C (p.Trp1050Arg)
c.3208T>C (p.Trp1070Arg)
c.3379T>C (p.Trp1127Arg)
c.5434T>C (p.Trp1812Arg)
c.5494T>C (p.Trp1832Arg)
c.5389T>C (p.Trp1797Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26461780A>TCA346131428OTOFc.5449T>A (p.Trp1817Arg)
c.3148T>A (p.Trp1050Arg)
c.3208T>A (p.Trp1070Arg)
c.3379T>A (p.Trp1127Arg)
c.5434T>A (p.Trp1812Arg)
c.5494T>A (p.Trp1832Arg)
c.5389T>A (p.Trp1797Arg)
2g.26461781G>ACA425359332OTOFc.5448C>T (p.Ser1816=)
c.3147C>T (p.Ser1049=)
c.3207C>T (p.Ser1069=)
c.3378C>T (p.Ser1126=)
c.5433C>T (p.Ser1811=)
c.5493C>T (p.Ser1831=)
c.5388C>T (p.Ser1796=)
2g.26461781G>CCA425359333OTOFc.5448C>G (p.Ser1816=)
c.3147C>G (p.Ser1049=)
c.3207C>G (p.Ser1069=)
c.3378C>G (p.Ser1126=)
c.5433C>G (p.Ser1811=)
c.5493C>G (p.Ser1831=)
c.5388C>G (p.Ser1796=)
2g.26461781G>TCA425359334OTOFc.5448C>A (p.Ser1816=)
c.3147C>A (p.Ser1049=)
c.3207C>A (p.Ser1069=)
c.3378C>A (p.Ser1126=)
c.5433C>A (p.Ser1811=)
c.5493C>A (p.Ser1831=)
c.5388C>A (p.Ser1796=)
2g.26461782G>ACA44409134OTOFc.5447C>T (p.Ser1816Phe)
c.3146C>T (p.Ser1049Phe)
c.3206C>T (p.Ser1069Phe)
c.3377C>T (p.Ser1126Phe)
c.5432C>T (p.Ser1811Phe)
c.5492C>T (p.Ser1831Phe)
c.5387C>T (p.Ser1796Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.26461782G>CCA346131429OTOFc.5447C>G (p.Ser1816Cys)
c.3146C>G (p.Ser1049Cys)
c.3206C>G (p.Ser1069Cys)
c.3377C>G (p.Ser1126Cys)
c.5432C>G (p.Ser1811Cys)
c.5492C>G (p.Ser1831Cys)
c.5387C>G (p.Ser1796Cys)
2g.26461782G=CA1239825427OTOFc.5447C= (p.Ser1816=)
c.3146C= (p.Ser1049=)
c.3206C= (p.Ser1069=)
c.3377C= (p.Ser1126=)
c.5432C= (p.Ser1811=)
c.5492C= (p.Ser1831=)
c.5387C= (p.Ser1796=)
2g.26461782G>TCA346131430OTOFc.5447C>A (p.Ser1816Tyr)
c.3146C>A (p.Ser1049Tyr)
c.3206C>A (p.Ser1069Tyr)
c.3377C>A (p.Ser1126Tyr)
c.5432C>A (p.Ser1811Tyr)
c.5492C>A (p.Ser1831Tyr)
c.5387C>A (p.Ser1796Tyr)
2g.26461783A>CCA346131431OTOFc.5446T>G (p.Ser1816Ala)
c.3145T>G (p.Ser1049Ala)
c.3205T>G (p.Ser1069Ala)
c.3376T>G (p.Ser1126Ala)
c.5431T>G (p.Ser1811Ala)
c.5491T>G (p.Ser1831Ala)
c.5386T>G (p.Ser1796Ala)
2g.26461783A>GCA346131432OTOFc.5446T>C (p.Ser1816Pro)
c.3145T>C (p.Ser1049Pro)
c.3205T>C (p.Ser1069Pro)
c.3376T>C (p.Ser1126Pro)
c.5431T>C (p.Ser1811Pro)
c.5491T>C (p.Ser1831Pro)
c.5386T>C (p.Ser1796Pro)
2g.26461783A>TCA346131433OTOFc.5446T>A (p.Ser1816Thr)
c.3145T>A (p.Ser1049Thr)
c.3205T>A (p.Ser1069Thr)
c.3376T>A (p.Ser1126Thr)
c.5431T>A (p.Ser1811Thr)
c.5491T>A (p.Ser1831Thr)
c.5386T>A (p.Ser1796Thr)
2g.26461784G>ACA1562825OTOFc.5445C>T (p.Phe1815=)
c.3144C>T (p.Phe1048=)
c.3204C>T (p.Phe1068=)
c.3375C>T (p.Phe1125=)
c.5430C>T (p.Phe1810=)
c.5490C>T (p.Phe1830=)
c.5385C>T (p.Phe1795=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461784G>CCA346131434OTOFc.5445C>G (p.Phe1815Leu)
c.3144C>G (p.Phe1048Leu)
c.3204C>G (p.Phe1068Leu)
c.3375C>G (p.Phe1125Leu)
c.5430C>G (p.Phe1810Leu)
c.5490C>G (p.Phe1830Leu)
c.5385C>G (p.Phe1795Leu)
2g.26461784G=CA1239825428OTOFc.5445C= (p.Phe1815=)
c.3144C= (p.Phe1048=)
c.3204C= (p.Phe1068=)
c.3375C= (p.Phe1125=)
c.5430C= (p.Phe1810=)
c.5490C= (p.Phe1830=)
c.5385C= (p.Phe1795=)
2g.26461784G>TCA346131435OTOFc.5445C>A (p.Phe1815Leu)
c.3144C>A (p.Phe1048Leu)
c.3204C>A (p.Phe1068Leu)
c.3375C>A (p.Phe1125Leu)
c.5430C>A (p.Phe1810Leu)
c.5490C>A (p.Phe1830Leu)
c.5385C>A (p.Phe1795Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26461785A>CCA346131438OTOFc.5444T>G (p.Phe1815Cys)
c.3143T>G (p.Phe1048Cys)
c.3203T>G (p.Phe1068Cys)
c.3374T>G (p.Phe1125Cys)
c.5429T>G (p.Phe1810Cys)
c.5489T>G (p.Phe1830Cys)
c.5384T>G (p.Phe1795Cys)
2g.26461785A>GCA346131436OTOFc.5444T>C (p.Phe1815Ser)
c.3143T>C (p.Phe1048Ser)
c.3203T>C (p.Phe1068Ser)
c.3374T>C (p.Phe1125Ser)
c.5429T>C (p.Phe1810Ser)
c.5489T>C (p.Phe1830Ser)
c.5384T>C (p.Phe1795Ser)
2g.26461785A>TCA346131437OTOFc.5444T>A (p.Phe1815Tyr)
c.3143T>A (p.Phe1048Tyr)
c.3203T>A (p.Phe1068Tyr)
c.3374T>A (p.Phe1125Tyr)
c.5429T>A (p.Phe1810Tyr)
c.5489T>A (p.Phe1830Tyr)
c.5384T>A (p.Phe1795Tyr)
2g.26461786A>CCA346131439OTOFc.5443T>G (p.Phe1815Val)
c.3142T>G (p.Phe1048Val)
c.3202T>G (p.Phe1068Val)
c.3373T>G (p.Phe1125Val)
c.5428T>G (p.Phe1810Val)
c.5488T>G (p.Phe1830Val)
c.5383T>G (p.Phe1795Val)
2g.26461786A>GCA501210OTOFc.5443T>C (p.Phe1815Leu)
c.3142T>C (p.Phe1048Leu)
c.3202T>C (p.Phe1068Leu)
c.3373T>C (p.Phe1125Leu)
c.5428T>C (p.Phe1810Leu)
c.5488T>C (p.Phe1830Leu)
c.5383T>C (p.Phe1795Leu)
2g.26461786A>TCA346131440OTOFc.5443T>A (p.Phe1815Ile)
c.3142T>A (p.Phe1048Ile)
c.3202T>A (p.Phe1068Ile)
c.3373T>A (p.Phe1125Ile)
c.5428T>A (p.Phe1810Ile)
c.5488T>A (p.Phe1830Ile)
c.5383T>A (p.Phe1795Ile)
2g.26461787C>ACA346131441OTOFc.5442G>T (p.Met1814Ile)
c.3141G>T (p.Met1047Ile)
c.3201G>T (p.Met1067Ile)
c.3372G>T (p.Met1124Ile)
c.5427G>T (p.Met1809Ile)
c.5487G>T (p.Met1829Ile)
c.5382G>T (p.Met1794Ile)
2g.26461787C>GCA346131442OTOFc.5442G>C (p.Met1814Ile)
c.3141G>C (p.Met1047Ile)
c.3201G>C (p.Met1067Ile)
c.3372G>C (p.Met1124Ile)
c.5427G>C (p.Met1809Ile)
c.5487G>C (p.Met1829Ile)
c.5382G>C (p.Met1794Ile)
2g.26461787C>TCA346131443OTOFc.5442G>A (p.Met1814Ile)
c.3141G>A (p.Met1047Ile)
c.3201G>A (p.Met1067Ile)
c.3372G>A (p.Met1124Ile)
c.5427G>A (p.Met1809Ile)
c.5487G>A (p.Met1829Ile)
c.5382G>A (p.Met1794Ile)
2g.26461788A>CCA346131444OTOFc.5441T>G (p.Met1814Arg)
c.3140T>G (p.Met1047Arg)
c.3200T>G (p.Met1067Arg)
c.3371T>G (p.Met1124Arg)
c.5426T>G (p.Met1809Arg)
c.5486T>G (p.Met1829Arg)
c.5381T>G (p.Met1794Arg)
2g.26461788A>GCA346131445OTOFc.5441T>C (p.Met1814Thr)
c.3140T>C (p.Met1047Thr)
c.3200T>C (p.Met1067Thr)
c.3371T>C (p.Met1124Thr)
c.5426T>C (p.Met1809Thr)
c.5486T>C (p.Met1829Thr)
c.5381T>C (p.Met1794Thr)
 gnomAD v4
2g.26461788A>TCA346131446OTOFc.5441T>A (p.Met1814Lys)
c.3140T>A (p.Met1047Lys)
c.3200T>A (p.Met1067Lys)
c.3371T>A (p.Met1124Lys)
c.5426T>A (p.Met1809Lys)
c.5486T>A (p.Met1829Lys)
c.5381T>A (p.Met1794Lys)
2g.26461789T>ACA346131447OTOFc.5440A>T (p.Met1814Leu)
c.3139A>T (p.Met1047Leu)
c.3199A>T (p.Met1067Leu)
c.3370A>T (p.Met1124Leu)
c.5425A>T (p.Met1809Leu)
c.5485A>T (p.Met1829Leu)
c.5380A>T (p.Met1794Leu)
2g.26461789T>CCA10613397OTOFc.5440A>G (p.Met1814Val)
c.3139A>G (p.Met1047Val)
c.3199A>G (p.Met1067Val)
c.3370A>G (p.Met1124Val)
c.5425A>G (p.Met1809Val)
c.5485A>G (p.Met1829Val)
c.5380A>G (p.Met1794Val)
 ClinVar dbSNP COSMIC COSMIC COSMIC
2g.26461789T>GCA346131448OTOFc.5440A>C (p.Met1814Leu)
c.3139A>C (p.Met1047Leu)
c.3199A>C (p.Met1067Leu)
c.3370A>C (p.Met1124Leu)
c.5425A>C (p.Met1809Leu)
c.5485A>C (p.Met1829Leu)
c.5380A>C (p.Met1794Leu)
2g.26461789T=CA1239825429OTOFc.5440A= (p.Met1814=)
c.3139A= (p.Met1047=)
c.3199A= (p.Met1067=)
c.3370A= (p.Met1124=)
c.5425A= (p.Met1809=)
c.5485A= (p.Met1829=)
c.5380A= (p.Met1794=)
2g.26461790G>ACA425359335OTOFc.5439C>T (p.Ser1813=)
c.3138C>T (p.Ser1046=)
c.3198C>T (p.Ser1066=)
c.3369C>T (p.Ser1123=)
c.5424C>T (p.Ser1808=)
c.5484C>T (p.Ser1828=)
c.5379C>T (p.Ser1793=)
2g.26461790G>CCA425359336OTOFc.5439C>G (p.Ser1813=)
c.3138C>G (p.Ser1046=)
c.3198C>G (p.Ser1066=)
c.3369C>G (p.Ser1123=)
c.5424C>G (p.Ser1808=)
c.5484C>G (p.Ser1828=)
c.5379C>G (p.Ser1793=)
2g.26461790G>TCA425359337OTOFc.5439C>A (p.Ser1813=)
c.3138C>A (p.Ser1046=)
c.3198C>A (p.Ser1066=)
c.3369C>A (p.Ser1123=)
c.5424C>A (p.Ser1808=)
c.5484C>A (p.Ser1828=)
c.5379C>A (p.Ser1793=)
2g.26461791G>ACA346131451OTOFc.5438C>T (p.Ser1813Phe)
c.3137C>T (p.Ser1046Phe)
c.3197C>T (p.Ser1066Phe)
c.3368C>T (p.Ser1123Phe)
c.5423C>T (p.Ser1808Phe)
c.5483C>T (p.Ser1828Phe)
c.5378C>T (p.Ser1793Phe)
 dbSNP gnomAD v2
2g.26461791G>CCA346131450OTOFc.5438C>G (p.Ser1813Cys)
c.3137C>G (p.Ser1046Cys)
c.3197C>G (p.Ser1066Cys)
c.3368C>G (p.Ser1123Cys)
c.5423C>G (p.Ser1808Cys)
c.5483C>G (p.Ser1828Cys)
c.5378C>G (p.Ser1793Cys)
2g.26461791G=CA1239825430OTOFc.5438C= (p.Ser1813=)
c.3137C= (p.Ser1046=)
c.3197C= (p.Ser1066=)
c.3368C= (p.Ser1123=)
c.5423C= (p.Ser1808=)
c.5483C= (p.Ser1828=)
c.5378C= (p.Ser1793=)
2g.26461791G>TCA346131449OTOFc.5438C>A (p.Ser1813Tyr)
c.3137C>A (p.Ser1046Tyr)
c.3197C>A (p.Ser1066Tyr)
c.3368C>A (p.Ser1123Tyr)
c.5423C>A (p.Ser1808Tyr)
c.5483C>A (p.Ser1828Tyr)
c.5378C>A (p.Ser1793Tyr)
 gnomAD v4
2g.26461792A>CCA346131454OTOFc.5437T>G (p.Ser1813Ala)
c.3136T>G (p.Ser1046Ala)
c.3196T>G (p.Ser1066Ala)
c.3367T>G (p.Ser1123Ala)
c.5422T>G (p.Ser1808Ala)
c.5482T>G (p.Ser1828Ala)
c.5377T>G (p.Ser1793Ala)
2g.26461792A>GCA346131452OTOFc.5437T>C (p.Ser1813Pro)
c.3136T>C (p.Ser1046Pro)
c.3196T>C (p.Ser1066Pro)
c.3367T>C (p.Ser1123Pro)
c.5422T>C (p.Ser1808Pro)
c.5482T>C (p.Ser1828Pro)
c.5377T>C (p.Ser1793Pro)
2g.26461792A>TCA346131453OTOFc.5437T>A (p.Ser1813Thr)
c.3136T>A (p.Ser1046Thr)
c.3196T>A (p.Ser1066Thr)
c.3367T>A (p.Ser1123Thr)
c.5422T>A (p.Ser1808Thr)
c.5482T>A (p.Ser1828Thr)
c.5377T>A (p.Ser1793Thr)
2g.26461793C>ACA346131455OTOFc.5436G>T (p.Glu1812Asp)
c.3135G>T (p.Glu1045Asp)
c.3195G>T (p.Glu1065Asp)
c.3366G>T (p.Glu1122Asp)
c.5421G>T (p.Glu1807Asp)
c.5481G>T (p.Glu1827Asp)
c.5376G>T (p.Glu1792Asp)
2g.26461793C>GCA346131456OTOFc.5436G>C (p.Glu1812Asp)
c.3135G>C (p.Glu1045Asp)
c.3195G>C (p.Glu1065Asp)
c.3366G>C (p.Glu1122Asp)
c.5421G>C (p.Glu1807Asp)
c.5481G>C (p.Glu1827Asp)
c.5376G>C (p.Glu1792Asp)
2g.26461793C>TCA425359338OTOFc.5436G>A (p.Glu1812=)
c.3135G>A (p.Glu1045=)
c.3195G>A (p.Glu1065=)
c.3366G>A (p.Glu1122=)
c.5421G>A (p.Glu1807=)
c.5481G>A (p.Glu1827=)
c.5376G>A (p.Glu1792=)
 ClinVar gnomAD v4
2g.26461794T>ACA346131457OTOFc.5435A>T (p.Glu1812Val)
c.3134A>T (p.Glu1045Val)
c.3194A>T (p.Glu1065Val)
c.3365A>T (p.Glu1122Val)
c.5420A>T (p.Glu1807Val)
c.5480A>T (p.Glu1827Val)
c.5375A>T (p.Glu1792Val)
2g.26461794T>CCA346131458OTOFc.5435A>G (p.Glu1812Gly)
c.3134A>G (p.Glu1045Gly)
c.3194A>G (p.Glu1065Gly)
c.3365A>G (p.Glu1122Gly)
c.5420A>G (p.Glu1807Gly)
c.5480A>G (p.Glu1827Gly)
c.5375A>G (p.Glu1792Gly)
 ClinVar gnomAD v4
2g.26461794T>GCA346131459OTOFc.5435A>C (p.Glu1812Ala)
c.3134A>C (p.Glu1045Ala)
c.3194A>C (p.Glu1065Ala)
c.3365A>C (p.Glu1122Ala)
c.5420A>C (p.Glu1807Ala)
c.5480A>C (p.Glu1827Ala)
c.5375A>C (p.Glu1792Ala)
2g.26461795C>ACA346131460OTOFc.5434G>T (p.Glu1812Ter)
c.3133G>T (p.Glu1045Ter)
c.3193G>T (p.Glu1065Ter)
c.3364G>T (p.Glu1122Ter)
c.5419G>T (p.Glu1807Ter)
c.5479G>T (p.Glu1827Ter)
c.5374G>T (p.Glu1792Ter)
2g.26461795C>GCA346131461OTOFc.5434G>C (p.Glu1812Gln)
c.3133G>C (p.Glu1045Gln)
c.3193G>C (p.Glu1065Gln)
c.3364G>C (p.Glu1122Gln)
c.5419G>C (p.Glu1807Gln)
c.5479G>C (p.Glu1827Gln)
c.5374G>C (p.Glu1792Gln)
2g.26461795C>TCA346131462OTOFc.5434G>A (p.Glu1812Lys)
c.3133G>A (p.Glu1045Lys)
c.3193G>A (p.Glu1065Lys)
c.3364G>A (p.Glu1122Lys)
c.5419G>A (p.Glu1807Lys)
c.5479G>A (p.Glu1827Lys)
c.5374G>A (p.Glu1792Lys)
2g.26461795_26461798delinsCCTTCA1239825431OTOFc.5431_5434delinsAAGG (p.Lys1811=)
c.3130_3133delinsAAGG (p.Lys1044=)
c.3190_3193delinsAAGG (p.Lys1064=)
c.3361_3364delinsAAGG (p.Lys1121=)
c.5416_5419delinsAAGG (p.Lys1806=)
c.5476_5479delinsAAGG (p.Lys1826=)
c.5371_5374delinsAAGG (p.Lys1791=)
2g.26461796C>ACA346131463OTOFc.5433G>T (p.Lys1811Asn)
c.3132G>T (p.Lys1044Asn)
c.3192G>T (p.Lys1064Asn)
c.3363G>T (p.Lys1121Asn)
c.5418G>T (p.Lys1806Asn)
c.5478G>T (p.Lys1826Asn)
c.5373G>T (p.Lys1791Asn)
2g.26461796C=CA1239825432OTOFc.5433G= (p.Lys1811=)
c.3132G= (p.Lys1044=)
c.3192G= (p.Lys1064=)
c.3363G= (p.Lys1121=)
c.5418G= (p.Lys1806=)
c.5478G= (p.Lys1826=)
c.5373G= (p.Lys1791=)
2g.26461796C>GCA346131464OTOFc.5433G>C (p.Lys1811Asn)
c.3132G>C (p.Lys1044Asn)
c.3192G>C (p.Lys1064Asn)
c.3363G>C (p.Lys1121Asn)
c.5418G>C (p.Lys1806Asn)
c.5478G>C (p.Lys1826Asn)
c.5373G>C (p.Lys1791Asn)
2g.26461796C>TCA44409140OTOFc.5433G>A (p.Lys1811=)
c.3132G>A (p.Lys1044=)
c.3192G>A (p.Lys1064=)
c.3363G>A (p.Lys1121=)
c.5418G>A (p.Lys1806=)
c.5478G>A (p.Lys1826=)
c.5373G>A (p.Lys1791=)
 dbSNP COSMIC COSMIC COSMIC
2g.26461799_26461801delCA531761650OTOFc.5431_5433del (p.Lys1811del)
c.3130_3132del (p.Lys1044del)
c.3190_3192del (p.Lys1064del)
c.3361_3363del (p.Lys1121del)
c.5416_5418del (p.Lys1806del)
c.5476_5478del (p.Lys1826del)
c.5371_5373del (p.Lys1791del)
 dbSNP gnomAD v2 gnomAD v4
2g.26461797T>ACA346131467OTOFc.5432A>T (p.Lys1811Met)
c.3131A>T (p.Lys1044Met)
c.3191A>T (p.Lys1064Met)
c.3362A>T (p.Lys1121Met)
c.5417A>T (p.Lys1806Met)
c.5477A>T (p.Lys1826Met)
c.5372A>T (p.Lys1791Met)
2g.26461797T>CCA346131466OTOFc.5432A>G (p.Lys1811Arg)
c.3131A>G (p.Lys1044Arg)
c.3191A>G (p.Lys1064Arg)
c.3362A>G (p.Lys1121Arg)
c.5417A>G (p.Lys1806Arg)
c.5477A>G (p.Lys1826Arg)
c.5372A>G (p.Lys1791Arg)
2g.26461797T>GCA346131465OTOFc.5432A>C (p.Lys1811Thr)
c.3131A>C (p.Lys1044Thr)
c.3191A>C (p.Lys1064Thr)
c.3362A>C (p.Lys1121Thr)
c.5417A>C (p.Lys1806Thr)
c.5477A>C (p.Lys1826Thr)
c.5372A>C (p.Lys1791Thr)
2g.26461798T>ACA346131468OTOFc.5431A>T (p.Lys1811Ter)
c.3130A>T (p.Lys1044Ter)
c.3190A>T (p.Lys1064Ter)
c.3361A>T (p.Lys1121Ter)
c.5416A>T (p.Lys1806Ter)
c.5476A>T (p.Lys1826Ter)
c.5371A>T (p.Lys1791Ter)
 ClinVar dbSNP gnomAD v4
2g.26461798T>CCA346131469OTOFc.5431A>G (p.Lys1811Glu)
c.3130A>G (p.Lys1044Glu)
c.3190A>G (p.Lys1064Glu)
c.3361A>G (p.Lys1121Glu)
c.5416A>G (p.Lys1806Glu)
c.5476A>G (p.Lys1826Glu)
c.5371A>G (p.Lys1791Glu)
2g.26461798T>GCA346131470OTOFc.5431A>C (p.Lys1811Gln)
c.3130A>C (p.Lys1044Gln)
c.3190A>C (p.Lys1064Gln)
c.3361A>C (p.Lys1121Gln)
c.5416A>C (p.Lys1806Gln)
c.5476A>C (p.Lys1826Gln)
c.5371A>C (p.Lys1791Gln)
2g.26461798T=CA1239825433OTOFc.5431A= (p.Lys1811=)
c.3130A= (p.Lys1044=)
c.3190A= (p.Lys1064=)
c.3361A= (p.Lys1121=)
c.5416A= (p.Lys1806=)
c.5476A= (p.Lys1826=)
c.5371A= (p.Lys1791=)
2g.26461802_26461816delCA2749240303OTOFc.5417_5431del (p.Ile1806_Lys1810del)
c.3116_3130del (p.Ile1039_Lys1043del)
c.3176_3190del (p.Ile1059_Lys1063del)
c.3347_3361del (p.Ile1116_Lys1120del)
c.5402_5416del (p.Ile1801_Lys1805del)
c.5462_5476del (p.Ile1821_Lys1825del)
c.5357_5371del (p.Ile1786_Lys1790del)
2g.26461799C>ACA346131471OTOFc.5430G>T (p.Lys1810Asn)
c.3129G>T (p.Lys1043Asn)
c.3189G>T (p.Lys1063Asn)
c.3360G>T (p.Lys1120Asn)
c.5415G>T (p.Lys1805Asn)
c.5475G>T (p.Lys1825Asn)
c.5370G>T (p.Lys1790Asn)
2g.26461799C>GCA346131472OTOFc.5430G>C (p.Lys1810Asn)
c.3129G>C (p.Lys1043Asn)
c.3189G>C (p.Lys1063Asn)
c.3360G>C (p.Lys1120Asn)
c.5415G>C (p.Lys1805Asn)
c.5475G>C (p.Lys1825Asn)
c.5370G>C (p.Lys1790Asn)
2g.26461799C>TCA425359339OTOFc.5430G>A (p.Lys1810=)
c.3129G>A (p.Lys1043=)
c.3189G>A (p.Lys1063=)
c.3360G>A (p.Lys1120=)
c.5415G>A (p.Lys1805=)
c.5475G>A (p.Lys1825=)
c.5370G>A (p.Lys1790=)
2g.26461800_26461829delCA2658232651OTOFc.5401_5430del (p.Ala1801_Lys1810del)
c.3100_3129del (p.Ala1034_Lys1043del)
c.3160_3189del (p.Ala1054_Lys1063del)
c.3331_3360del (p.Ala1111_Lys1120del)
c.5386_5415del (p.Ala1796_Lys1805del)
c.5446_5475del (p.Ala1816_Lys1825del)
c.5341_5370del (p.Ala1781_Lys1790del)
 gnomAD v4
2g.26461800T>ACA346131473OTOFc.5429A>T (p.Lys1810Met)
c.3128A>T (p.Lys1043Met)
c.3188A>T (p.Lys1063Met)
c.3359A>T (p.Lys1120Met)
c.5414A>T (p.Lys1805Met)
c.5474A>T (p.Lys1825Met)
c.5369A>T (p.Lys1790Met)
2g.26461800T>CCA346131474OTOFc.5429A>G (p.Lys1810Arg)
c.3128A>G (p.Lys1043Arg)
c.3188A>G (p.Lys1063Arg)
c.3359A>G (p.Lys1120Arg)
c.5414A>G (p.Lys1805Arg)
c.5474A>G (p.Lys1825Arg)
c.5369A>G (p.Lys1790Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26461800T>GCA346131475OTOFc.5429A>C (p.Lys1810Thr)
c.3128A>C (p.Lys1043Thr)
c.3188A>C (p.Lys1063Thr)
c.3359A>C (p.Lys1120Thr)
c.5414A>C (p.Lys1805Thr)
c.5474A>C (p.Lys1825Thr)
c.5369A>C (p.Lys1790Thr)
2g.26461800T=CA1239825434OTOFc.5429A= (p.Lys1810=)
c.3128A= (p.Lys1043=)
c.3188A= (p.Lys1063=)
c.3359A= (p.Lys1120=)
c.5414A= (p.Lys1805=)
c.5474A= (p.Lys1825=)
c.5369A= (p.Lys1790=)
2g.26461801T>ACA346131476OTOFc.5428A>T (p.Lys1810Ter)
c.3127A>T (p.Lys1043Ter)
c.3187A>T (p.Lys1063Ter)
c.3358A>T (p.Lys1120Ter)
c.5413A>T (p.Lys1805Ter)
c.5473A>T (p.Lys1825Ter)
c.5368A>T (p.Lys1790Ter)
2g.26461801T>CCA346131477OTOFc.5428A>G (p.Lys1810Glu)
c.3127A>G (p.Lys1043Glu)
c.3187A>G (p.Lys1063Glu)
c.3358A>G (p.Lys1120Glu)
c.5413A>G (p.Lys1805Glu)
c.5473A>G (p.Lys1825Glu)
c.5368A>G (p.Lys1790Glu)
2g.26461801T>GCA44409144OTOFc.5428A>C (p.Lys1810Gln)
c.3127A>C (p.Lys1043Gln)
c.3187A>C (p.Lys1063Gln)
c.3358A>C (p.Lys1120Gln)
c.5413A>C (p.Lys1805Gln)
c.5473A>C (p.Lys1825Gln)
c.5368A>C (p.Lys1790Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461801T=CA1239825435OTOFc.5428A= (p.Lys1810=)
c.3127A= (p.Lys1043=)
c.3187A= (p.Lys1063=)
c.3358A= (p.Lys1120=)
c.5413A= (p.Lys1805=)
c.5473A= (p.Lys1825=)
c.5368A= (p.Lys1790=)
2g.26461802G>ACA425359340OTOFc.5427C>T (p.Ser1809=)
c.3126C>T (p.Ser1042=)
c.3186C>T (p.Ser1062=)
c.3357C>T (p.Ser1119=)
c.5412C>T (p.Ser1804=)
c.5472C>T (p.Ser1824=)
c.5367C>T (p.Ser1789=)
 COSMIC COSMIC COSMIC
2g.26461802G>CCA425359341OTOFc.5427C>G (p.Ser1809=)
c.3126C>G (p.Ser1042=)
c.3186C>G (p.Ser1062=)
c.3357C>G (p.Ser1119=)
c.5412C>G (p.Ser1804=)
c.5472C>G (p.Ser1824=)
c.5367C>G (p.Ser1789=)
2g.26461802G>TCA425359342OTOFc.5427C>A (p.Ser1809=)
c.3126C>A (p.Ser1042=)
c.3186C>A (p.Ser1062=)
c.3357C>A (p.Ser1119=)
c.5412C>A (p.Ser1804=)
c.5472C>A (p.Ser1824=)
c.5367C>A (p.Ser1789=)

Number of alleles fetched