Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.26461803G>ACA346131478OTOFc.5426C>T (p.Ser1809Phe)
c.3125C>T (p.Ser1042Phe)
c.3185C>T (p.Ser1062Phe)
c.3356C>T (p.Ser1119Phe)
c.5411C>T (p.Ser1804Phe)
c.5471C>T (p.Ser1824Phe)
c.5366C>T (p.Ser1789Phe)
 gnomAD v4
2g.26461803G>CCA346131479OTOFc.5426C>G (p.Ser1809Cys)
c.3125C>G (p.Ser1042Cys)
c.3185C>G (p.Ser1062Cys)
c.3356C>G (p.Ser1119Cys)
c.5411C>G (p.Ser1804Cys)
c.5471C>G (p.Ser1824Cys)
c.5366C>G (p.Ser1789Cys)
2g.26461803G>TCA346131480OTOFc.5426C>A (p.Ser1809Tyr)
c.3125C>A (p.Ser1042Tyr)
c.3185C>A (p.Ser1062Tyr)
c.3356C>A (p.Ser1119Tyr)
c.5411C>A (p.Ser1804Tyr)
c.5471C>A (p.Ser1824Tyr)
c.5366C>A (p.Ser1789Tyr)
2g.26461804A=CA1239825436OTOFc.5425T= (p.Ser1809=)
c.3124T= (p.Ser1042=)
c.3184T= (p.Ser1062=)
c.3355T= (p.Ser1119=)
c.5410T= (p.Ser1804=)
c.5470T= (p.Ser1824=)
c.5365T= (p.Ser1789=)
2g.26461804A>CCA1562826OTOFc.5425T>G (p.Ser1809Ala)
c.3124T>G (p.Ser1042Ala)
c.3184T>G (p.Ser1062Ala)
c.3355T>G (p.Ser1119Ala)
c.5410T>G (p.Ser1804Ala)
c.5470T>G (p.Ser1824Ala)
c.5365T>G (p.Ser1789Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461804A>GCA346131482OTOFc.5425T>C (p.Ser1809Pro)
c.3124T>C (p.Ser1042Pro)
c.3184T>C (p.Ser1062Pro)
c.3355T>C (p.Ser1119Pro)
c.5410T>C (p.Ser1804Pro)
c.5470T>C (p.Ser1824Pro)
c.5365T>C (p.Ser1789Pro)
2g.26461804A>TCA346131481OTOFc.5425T>A (p.Ser1809Thr)
c.3124T>A (p.Ser1042Thr)
c.3184T>A (p.Ser1062Thr)
c.3355T>A (p.Ser1119Thr)
c.5410T>A (p.Ser1804Thr)
c.5470T>A (p.Ser1824Thr)
c.5365T>A (p.Ser1789Thr)
2g.26461805G>ACA425359343OTOFc.5424C>T (p.Ile1808=)
c.3123C>T (p.Ile1041=)
c.3183C>T (p.Ile1061=)
c.3354C>T (p.Ile1118=)
c.5409C>T (p.Ile1803=)
c.5469C>T (p.Ile1823=)
c.5364C>T (p.Ile1788=)
 dbSNP gnomAD v2 gnomAD v4
2g.26461805G>CCA346131483OTOFc.5424C>G (p.Ile1808Met)
c.3123C>G (p.Ile1041Met)
c.3183C>G (p.Ile1061Met)
c.3354C>G (p.Ile1118Met)
c.5409C>G (p.Ile1803Met)
c.5469C>G (p.Ile1823Met)
c.5364C>G (p.Ile1788Met)
2g.26461805G=CA1239825437OTOFc.5424C= (p.Ile1808=)
c.3123C= (p.Ile1041=)
c.3183C= (p.Ile1061=)
c.3354C= (p.Ile1118=)
c.5409C= (p.Ile1803=)
c.5469C= (p.Ile1823=)
c.5364C= (p.Ile1788=)
2g.26461805G>TCA425359344OTOFc.5424C>A (p.Ile1808=)
c.3123C>A (p.Ile1041=)
c.3183C>A (p.Ile1061=)
c.3354C>A (p.Ile1118=)
c.5409C>A (p.Ile1803=)
c.5469C>A (p.Ile1823=)
c.5364C>A (p.Ile1788=)
2g.26461806A=CA1239825438OTOFc.5423T= (p.Ile1808=)
c.3122T= (p.Ile1041=)
c.3182T= (p.Ile1061=)
c.3353T= (p.Ile1118=)
c.5408T= (p.Ile1803=)
c.5468T= (p.Ile1823=)
c.5363T= (p.Ile1788=)
2g.26461806A>CCA346131484OTOFc.5423T>G (p.Ile1808Ser)
c.3122T>G (p.Ile1041Ser)
c.3182T>G (p.Ile1061Ser)
c.3353T>G (p.Ile1118Ser)
c.5408T>G (p.Ile1803Ser)
c.5468T>G (p.Ile1823Ser)
c.5363T>G (p.Ile1788Ser)
2g.26461806A>GCA346131485OTOFc.5423T>C (p.Ile1808Thr)
c.3122T>C (p.Ile1041Thr)
c.3182T>C (p.Ile1061Thr)
c.3353T>C (p.Ile1118Thr)
c.5408T>C (p.Ile1803Thr)
c.5468T>C (p.Ile1823Thr)
c.5363T>C (p.Ile1788Thr)
2g.26461806A>TCA346131486OTOFc.5423T>A (p.Ile1808Asn)
c.3122T>A (p.Ile1041Asn)
c.3182T>A (p.Ile1061Asn)
c.3353T>A (p.Ile1118Asn)
c.5408T>A (p.Ile1803Asn)
c.5468T>A (p.Ile1823Asn)
c.5363T>A (p.Ile1788Asn)
 ClinVar dbSNP gnomAD v4
2g.26461807T>ACA346131487OTOFc.5422A>T (p.Ile1808Phe)
c.3121A>T (p.Ile1041Phe)
c.3181A>T (p.Ile1061Phe)
c.3352A>T (p.Ile1118Phe)
c.5407A>T (p.Ile1803Phe)
c.5467A>T (p.Ile1823Phe)
c.5362A>T (p.Ile1788Phe)
2g.26461807T>CCA346131488OTOFc.5422A>G (p.Ile1808Val)
c.3121A>G (p.Ile1041Val)
c.3181A>G (p.Ile1061Val)
c.3352A>G (p.Ile1118Val)
c.5407A>G (p.Ile1803Val)
c.5467A>G (p.Ile1823Val)
c.5362A>G (p.Ile1788Val)
 dbSNP gnomAD v2 gnomAD v4
2g.26461807T>GCA1562827OTOFc.5422A>C (p.Ile1808Leu)
c.3121A>C (p.Ile1041Leu)
c.3181A>C (p.Ile1061Leu)
c.3352A>C (p.Ile1118Leu)
c.5407A>C (p.Ile1803Leu)
c.5467A>C (p.Ile1823Leu)
c.5362A>C (p.Ile1788Leu)
 dbSNP ExAC gnomAD v2
2g.26461807T=CA1239825439OTOFc.5422A= (p.Ile1808=)
c.3121A= (p.Ile1041=)
c.3181A= (p.Ile1061=)
c.3352A= (p.Ile1118=)
c.5407A= (p.Ile1803=)
c.5467A= (p.Ile1823=)
c.5362A= (p.Ile1788=)
2g.26461808G>ACA425359345OTOFc.5421C>T (p.Val1807=)
c.3120C>T (p.Val1040=)
c.3180C>T (p.Val1060=)
c.3351C>T (p.Val1117=)
c.5406C>T (p.Val1802=)
c.5466C>T (p.Val1822=)
c.5361C>T (p.Val1787=)
2g.26461808G>CCA425359346OTOFc.5421C>G (p.Val1807=)
c.3120C>G (p.Val1040=)
c.3180C>G (p.Val1060=)
c.3351C>G (p.Val1117=)
c.5406C>G (p.Val1802=)
c.5466C>G (p.Val1822=)
c.5361C>G (p.Val1787=)
2g.26461808G>TCA425359347OTOFc.5421C>A (p.Val1807=)
c.3120C>A (p.Val1040=)
c.3180C>A (p.Val1060=)
c.3351C>A (p.Val1117=)
c.5406C>A (p.Val1802=)
c.5466C>A (p.Val1822=)
c.5361C>A (p.Val1787=)
2g.26461810_26461812delCA2576698812OTOFc.5419_5421del (p.Val1807del)
c.3118_3120del (p.Val1040del)
c.3178_3180del (p.Val1060del)
c.3349_3351del (p.Val1117del)
c.5404_5406del (p.Val1802del)
c.5464_5466del (p.Val1822del)
c.5359_5361del (p.Val1787del)
 gnomAD v4
2g.26461809A>CCA346131489OTOFc.5420T>G (p.Val1807Gly)
c.3119T>G (p.Val1040Gly)
c.3179T>G (p.Val1060Gly)
c.3350T>G (p.Val1117Gly)
c.5405T>G (p.Val1802Gly)
c.5465T>G (p.Val1822Gly)
c.5360T>G (p.Val1787Gly)
2g.26461809A>GCA346131490OTOFc.5420T>C (p.Val1807Ala)
c.3119T>C (p.Val1040Ala)
c.3179T>C (p.Val1060Ala)
c.3350T>C (p.Val1117Ala)
c.5405T>C (p.Val1802Ala)
c.5465T>C (p.Val1822Ala)
c.5360T>C (p.Val1787Ala)
2g.26461809A>TCA346131491OTOFc.5420T>A (p.Val1807Asp)
c.3119T>A (p.Val1040Asp)
c.3179T>A (p.Val1060Asp)
c.3350T>A (p.Val1117Asp)
c.5405T>A (p.Val1802Asp)
c.5465T>A (p.Val1822Asp)
c.5360T>A (p.Val1787Asp)
2g.26461810C>ACA346131492OTOFc.5419G>T (p.Val1807Phe)
c.3118G>T (p.Val1040Phe)
c.3178G>T (p.Val1060Phe)
c.3349G>T (p.Val1117Phe)
c.5404G>T (p.Val1802Phe)
c.5464G>T (p.Val1822Phe)
c.5359G>T (p.Val1787Phe)
 dbSNP
2g.26461810C=CA1239825440OTOFc.5419G= (p.Val1807=)
c.3118G= (p.Val1040=)
c.3178G= (p.Val1060=)
c.3349G= (p.Val1117=)
c.5404G= (p.Val1802=)
c.5464G= (p.Val1822=)
c.5359G= (p.Val1787=)
2g.26461810C>GCA346131493OTOFc.5419G>C (p.Val1807Leu)
c.3118G>C (p.Val1040Leu)
c.3178G>C (p.Val1060Leu)
c.3349G>C (p.Val1117Leu)
c.5404G>C (p.Val1802Leu)
c.5464G>C (p.Val1822Leu)
c.5359G>C (p.Val1787Leu)
2g.26461810C>TCA1562828OTOFc.5419G>A (p.Val1807Ile)
c.3118G>A (p.Val1040Ile)
c.3178G>A (p.Val1060Ile)
c.3349G>A (p.Val1117Ile)
c.5404G>A (p.Val1802Ile)
c.5464G>A (p.Val1822Ile)
c.5359G>A (p.Val1787Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461811G>ACA142934OTOFc.5418C>T (p.Ile1806=)
c.3117C>T (p.Ile1039=)
c.3177C>T (p.Ile1059=)
c.3348C>T (p.Ile1116=)
c.5403C>T (p.Ile1801=)
c.5463C>T (p.Ile1821=)
c.5358C>T (p.Ile1786=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461811G>CCA1562829OTOFc.5418C>G (p.Ile1806Met)
c.3117C>G (p.Ile1039Met)
c.3177C>G (p.Ile1059Met)
c.3348C>G (p.Ile1116Met)
c.5403C>G (p.Ile1801Met)
c.5463C>G (p.Ile1821Met)
c.5358C>G (p.Ile1786Met)
 dbSNP ExAC
2g.26461811G=CA1239825441OTOFc.5418C= (p.Ile1806=)
c.3117C= (p.Ile1039=)
c.3177C= (p.Ile1059=)
c.3348C= (p.Ile1116=)
c.5403C= (p.Ile1801=)
c.5463C= (p.Ile1821=)
c.5358C= (p.Ile1786=)
2g.26461811G>TCA1562830OTOFc.5418C>A (p.Ile1806=)
c.3117C>A (p.Ile1039=)
c.3177C>A (p.Ile1059=)
c.3348C>A (p.Ile1116=)
c.5403C>A (p.Ile1801=)
c.5463C>A (p.Ile1821=)
c.5358C>A (p.Ile1786=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.26461812A=CA1239825442OTOFc.5417T= (p.Ile1806=)
c.3116T= (p.Ile1039=)
c.3176T= (p.Ile1059=)
c.3347T= (p.Ile1116=)
c.5402T= (p.Ile1801=)
c.5462T= (p.Ile1821=)
c.5357T= (p.Ile1786=)
2g.26461812A>CCA346131494OTOFc.5417T>G (p.Ile1806Ser)
c.3116T>G (p.Ile1039Ser)
c.3176T>G (p.Ile1059Ser)
c.3347T>G (p.Ile1116Ser)
c.5402T>G (p.Ile1801Ser)
c.5462T>G (p.Ile1821Ser)
c.5357T>G (p.Ile1786Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26461812A>GCA346131495OTOFc.5417T>C (p.Ile1806Thr)
c.3116T>C (p.Ile1039Thr)
c.3176T>C (p.Ile1059Thr)
c.3347T>C (p.Ile1116Thr)
c.5402T>C (p.Ile1801Thr)
c.5462T>C (p.Ile1821Thr)
c.5357T>C (p.Ile1786Thr)
 gnomAD v4
2g.26461812A>TCA346131496OTOFc.5417T>A (p.Ile1806Asn)
c.3116T>A (p.Ile1039Asn)
c.3176T>A (p.Ile1059Asn)
c.3347T>A (p.Ile1116Asn)
c.5402T>A (p.Ile1801Asn)
c.5462T>A (p.Ile1821Asn)
c.5357T>A (p.Ile1786Asn)
2g.26461813T>ACA346131497OTOFc.5416A>T (p.Ile1806Phe)
c.3115A>T (p.Ile1039Phe)
c.3175A>T (p.Ile1059Phe)
c.3346A>T (p.Ile1116Phe)
c.5401A>T (p.Ile1801Phe)
c.5461A>T (p.Ile1821Phe)
c.5356A>T (p.Ile1786Phe)
2g.26461813T>CCA346131498OTOFc.5416A>G (p.Ile1806Val)
c.3115A>G (p.Ile1039Val)
c.3175A>G (p.Ile1059Val)
c.3346A>G (p.Ile1116Val)
c.5401A>G (p.Ile1801Val)
c.5461A>G (p.Ile1821Val)
c.5356A>G (p.Ile1786Val)
2g.26461813T>GCA346131499OTOFc.5416A>C (p.Ile1806Leu)
c.3115A>C (p.Ile1039Leu)
c.3175A>C (p.Ile1059Leu)
c.3346A>C (p.Ile1116Leu)
c.5401A>C (p.Ile1801Leu)
c.5461A>C (p.Ile1821Leu)
c.5356A>C (p.Ile1786Leu)
2g.26461814C>ACA346131500OTOFc.5415G>T (p.Lys1805Asn)
c.3114G>T (p.Lys1038Asn)
c.3174G>T (p.Lys1058Asn)
c.3345G>T (p.Lys1115Asn)
c.5400G>T (p.Lys1800Asn)
c.5460G>T (p.Lys1820Asn)
c.5355G>T (p.Lys1785Asn)
2g.26461814C>GCA346131501OTOFc.5415G>C (p.Lys1805Asn)
c.3114G>C (p.Lys1038Asn)
c.3174G>C (p.Lys1058Asn)
c.3345G>C (p.Lys1115Asn)
c.5400G>C (p.Lys1800Asn)
c.5460G>C (p.Lys1820Asn)
c.5355G>C (p.Lys1785Asn)
2g.26461814C>TCA425359348OTOFc.5415G>A (p.Lys1805=)
c.3114G>A (p.Lys1038=)
c.3174G>A (p.Lys1058=)
c.3345G>A (p.Lys1115=)
c.5400G>A (p.Lys1800=)
c.5460G>A (p.Lys1820=)
c.5355G>A (p.Lys1785=)
2g.26461815T>ACA44409170OTOFc.5414A>T (p.Lys1805Met)
c.3113A>T (p.Lys1038Met)
c.3173A>T (p.Lys1058Met)
c.3344A>T (p.Lys1115Met)
c.5399A>T (p.Lys1800Met)
c.5459A>T (p.Lys1820Met)
c.5354A>T (p.Lys1785Met)
 dbSNP gnomAD v2
2g.26461815T>CCA346131502OTOFc.5414A>G (p.Lys1805Arg)
c.3113A>G (p.Lys1038Arg)
c.3173A>G (p.Lys1058Arg)
c.3344A>G (p.Lys1115Arg)
c.5399A>G (p.Lys1800Arg)
c.5459A>G (p.Lys1820Arg)
c.5354A>G (p.Lys1785Arg)
2g.26461815T>GCA346131503OTOFc.5414A>C (p.Lys1805Thr)
c.3113A>C (p.Lys1038Thr)
c.3173A>C (p.Lys1058Thr)
c.3344A>C (p.Lys1115Thr)
c.5399A>C (p.Lys1800Thr)
c.5459A>C (p.Lys1820Thr)
c.5354A>C (p.Lys1785Thr)
2g.26461815T=CA1239825443OTOFc.5414A= (p.Lys1805=)
c.3113A= (p.Lys1038=)
c.3173A= (p.Lys1058=)
c.3344A= (p.Lys1115=)
c.5399A= (p.Lys1800=)
c.5459A= (p.Lys1820=)
c.5354A= (p.Lys1785=)
2g.26461816T>ACA346131505OTOFc.5413A>T (p.Lys1805Ter)
c.3112A>T (p.Lys1038Ter)
c.3172A>T (p.Lys1058Ter)
c.3343A>T (p.Lys1115Ter)
c.5398A>T (p.Lys1800Ter)
c.5458A>T (p.Lys1820Ter)
c.5353A>T (p.Lys1785Ter)
2g.26461816T>CCA346131506OTOFc.5413A>G (p.Lys1805Glu)
c.3112A>G (p.Lys1038Glu)
c.3172A>G (p.Lys1058Glu)
c.3343A>G (p.Lys1115Glu)
c.5398A>G (p.Lys1800Glu)
c.5458A>G (p.Lys1820Glu)
c.5353A>G (p.Lys1785Glu)
2g.26461816T>GCA346131504OTOFc.5413A>C (p.Lys1805Gln)
c.3112A>C (p.Lys1038Gln)
c.3172A>C (p.Lys1058Gln)
c.3343A>C (p.Lys1115Gln)
c.5398A>C (p.Lys1800Gln)
c.5458A>C (p.Lys1820Gln)
c.5353A>C (p.Lys1785Gln)
2g.26461816_26461819delinsTCTCCA1239825444OTOFc.5410_5413delinsGAGA (p.Glu1804=)
c.3109_3112delinsGAGA (p.Glu1037=)
c.3169_3172delinsGAGA (p.Glu1057=)
c.3340_3343delinsGAGA (p.Glu1114=)
c.5395_5398delinsGAGA (p.Glu1799=)
c.5455_5458delinsGAGA (p.Glu1819=)
c.5350_5353delinsGAGA (p.Glu1784=)
2g.26461817C>ACA346131507OTOFc.5412G>T (p.Glu1804Asp)
c.3111G>T (p.Glu1037Asp)
c.3171G>T (p.Glu1057Asp)
c.3342G>T (p.Glu1114Asp)
c.5397G>T (p.Glu1799Asp)
c.5457G>T (p.Glu1819Asp)
c.5352G>T (p.Glu1784Asp)
2g.26461817C=CA1239825445OTOFc.5412G= (p.Glu1804=)
c.3111G= (p.Glu1037=)
c.3171G= (p.Glu1057=)
c.3342G= (p.Glu1114=)
c.5397G= (p.Glu1799=)
c.5457G= (p.Glu1819=)
c.5352G= (p.Glu1784=)
2g.26461817C>GCA346131508OTOFc.5412G>C (p.Glu1804Asp)
c.3111G>C (p.Glu1037Asp)
c.3171G>C (p.Glu1057Asp)
c.3342G>C (p.Glu1114Asp)
c.5397G>C (p.Glu1799Asp)
c.5457G>C (p.Glu1819Asp)
c.5352G>C (p.Glu1784Asp)
2g.26461817C>TCA44409177OTOFc.5412G>A (p.Glu1804=)
c.3111G>A (p.Glu1037=)
c.3171G>A (p.Glu1057=)
c.3342G>A (p.Glu1114=)
c.5397G>A (p.Glu1799=)
c.5457G>A (p.Glu1819=)
c.5352G>A (p.Glu1784=)
 dbSNP
2g.26461821_26461823delCA345137OTOFc.5410_5412del (p.Glu1804del)
c.3109_3111del (p.Glu1037del)
c.3169_3171del (p.Glu1057del)
c.3340_3342del (p.Glu1114del)
c.5395_5397del (p.Glu1799del)
c.5455_5457del (p.Glu1819del)
c.5350_5352del (p.Glu1784del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26461818T>ACA346131509OTOFc.5411A>T (p.Glu1804Val)
c.3110A>T (p.Glu1037Val)
c.3170A>T (p.Glu1057Val)
c.3341A>T (p.Glu1114Val)
c.5396A>T (p.Glu1799Val)
c.5456A>T (p.Glu1819Val)
c.5351A>T (p.Glu1784Val)
2g.26461818T>CCA346131510OTOFc.5411A>G (p.Glu1804Gly)
c.3110A>G (p.Glu1037Gly)
c.3170A>G (p.Glu1057Gly)
c.3341A>G (p.Glu1114Gly)
c.5396A>G (p.Glu1799Gly)
c.5456A>G (p.Glu1819Gly)
c.5351A>G (p.Glu1784Gly)
2g.26461818T>GCA346131511OTOFc.5411A>C (p.Glu1804Ala)
c.3110A>C (p.Glu1037Ala)
c.3170A>C (p.Glu1057Ala)
c.3341A>C (p.Glu1114Ala)
c.5396A>C (p.Glu1799Ala)
c.5456A>C (p.Glu1819Ala)
c.5351A>C (p.Glu1784Ala)
2g.26461819C>ACA346131512OTOFc.5410G>T (p.Glu1804Ter)
c.3109G>T (p.Glu1037Ter)
c.3169G>T (p.Glu1057Ter)
c.3340G>T (p.Glu1114Ter)
c.5395G>T (p.Glu1799Ter)
c.5455G>T (p.Glu1819Ter)
c.5350G>T (p.Glu1784Ter)
2g.26461819C>GCA346131513OTOFc.5410G>C (p.Glu1804Gln)
c.3109G>C (p.Glu1037Gln)
c.3169G>C (p.Glu1057Gln)
c.3340G>C (p.Glu1114Gln)
c.5395G>C (p.Glu1799Gln)
c.5455G>C (p.Glu1819Gln)
c.5350G>C (p.Glu1784Gln)
2g.26461819C>TCA346131514OTOFc.5410G>A (p.Glu1804Lys)
c.3109G>A (p.Glu1037Lys)
c.3169G>A (p.Glu1057Lys)
c.3340G>A (p.Glu1114Lys)
c.5395G>A (p.Glu1799Lys)
c.5455G>A (p.Glu1819Lys)
c.5350G>A (p.Glu1784Lys)
2g.26461820C>ACA346131515OTOFc.5409G>T (p.Glu1803Asp)
c.3108G>T (p.Glu1036Asp)
c.3168G>T (p.Glu1056Asp)
c.3339G>T (p.Glu1113Asp)
c.5394G>T (p.Glu1798Asp)
c.5454G>T (p.Glu1818Asp)
c.5349G>T (p.Glu1783Asp)
2g.26461820C>GCA346131516OTOFc.5409G>C (p.Glu1803Asp)
c.3108G>C (p.Glu1036Asp)
c.3168G>C (p.Glu1056Asp)
c.3339G>C (p.Glu1113Asp)
c.5394G>C (p.Glu1798Asp)
c.5454G>C (p.Glu1818Asp)
c.5349G>C (p.Glu1783Asp)
2g.26461820C>TCA425359349OTOFc.5409G>A (p.Glu1803=)
c.3108G>A (p.Glu1036=)
c.3168G>A (p.Glu1056=)
c.3339G>A (p.Glu1113=)
c.5394G>A (p.Glu1798=)
c.5454G>A (p.Glu1818=)
c.5349G>A (p.Glu1783=)
 gnomAD v4
2g.26461821T>ACA346131517OTOFc.5408A>T (p.Glu1803Val)
c.3107A>T (p.Glu1036Val)
c.3167A>T (p.Glu1056Val)
c.3338A>T (p.Glu1113Val)
c.5393A>T (p.Glu1798Val)
c.5453A>T (p.Glu1818Val)
c.5348A>T (p.Glu1783Val)
2g.26461821T>CCA346131518OTOFc.5408A>G (p.Glu1803Gly)
c.3107A>G (p.Glu1036Gly)
c.3167A>G (p.Glu1056Gly)
c.3338A>G (p.Glu1113Gly)
c.5393A>G (p.Glu1798Gly)
c.5453A>G (p.Glu1818Gly)
c.5348A>G (p.Glu1783Gly)
2g.26461821T>GCA346131519OTOFc.5408A>C (p.Glu1803Ala)
c.3107A>C (p.Glu1036Ala)
c.3167A>C (p.Glu1056Ala)
c.3338A>C (p.Glu1113Ala)
c.5393A>C (p.Glu1798Ala)
c.5453A>C (p.Glu1818Ala)
c.5348A>C (p.Glu1783Ala)
 dbSNP gnomAD v4
2g.26461821T=CA1239825446OTOFc.5408A= (p.Glu1803=)
c.3107A= (p.Glu1036=)
c.3167A= (p.Glu1056=)
c.3338A= (p.Glu1113=)
c.5393A= (p.Glu1798=)
c.5453A= (p.Glu1818=)
c.5348A= (p.Glu1783=)
2g.26461822C>ACA346131520OTOFc.5407G>T (p.Glu1803Ter)
c.3106G>T (p.Glu1036Ter)
c.3166G>T (p.Glu1056Ter)
c.3337G>T (p.Glu1113Ter)
c.5392G>T (p.Glu1798Ter)
c.5452G>T (p.Glu1818Ter)
c.5347G>T (p.Glu1783Ter)
2g.26461822C>GCA346131521OTOFc.5407G>C (p.Glu1803Gln)
c.3106G>C (p.Glu1036Gln)
c.3166G>C (p.Glu1056Gln)
c.3337G>C (p.Glu1113Gln)
c.5392G>C (p.Glu1798Gln)
c.5452G>C (p.Glu1818Gln)
c.5347G>C (p.Glu1783Gln)
2g.26461822C>TCA346131522OTOFc.5407G>A (p.Glu1803Lys)
c.3106G>A (p.Glu1036Lys)
c.3166G>A (p.Glu1056Lys)
c.3337G>A (p.Glu1113Lys)
c.5392G>A (p.Glu1798Lys)
c.5452G>A (p.Glu1818Lys)
c.5347G>A (p.Glu1783Lys)
2g.26461823C>ACA425359350OTOFc.5406G>T (p.Ala1802=)
c.3105G>T (p.Ala1035=)
c.3165G>T (p.Ala1055=)
c.3336G>T (p.Ala1112=)
c.5391G>T (p.Ala1797=)
c.5451G>T (p.Ala1817=)
c.5346G>T (p.Ala1782=)
2g.26461823C=CA1239825447OTOFc.5406G= (p.Ala1802=)
c.3105G= (p.Ala1035=)
c.3165G= (p.Ala1055=)
c.3336G= (p.Ala1112=)
c.5391G= (p.Ala1797=)
c.5451G= (p.Ala1817=)
c.5346G= (p.Ala1782=)
2g.26461823C>GCA425359351OTOFc.5406G>C (p.Ala1802=)
c.3105G>C (p.Ala1035=)
c.3165G>C (p.Ala1055=)
c.3336G>C (p.Ala1112=)
c.5391G>C (p.Ala1797=)
c.5451G>C (p.Ala1817=)
c.5346G>C (p.Ala1782=)
2g.26461823C>TCA1562831OTOFc.5406G>A (p.Ala1802=)
c.3105G>A (p.Ala1035=)
c.3165G>A (p.Ala1055=)
c.3336G>A (p.Ala1112=)
c.5391G>A (p.Ala1797=)
c.5451G>A (p.Ala1817=)
c.5346G>A (p.Ala1782=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461824G>ACA1562832OTOFc.5405C>T (p.Ala1802Val)
c.3104C>T (p.Ala1035Val)
c.3164C>T (p.Ala1055Val)
c.3335C>T (p.Ala1112Val)
c.5390C>T (p.Ala1797Val)
c.5450C>T (p.Ala1817Val)
c.5345C>T (p.Ala1782Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461824G>CCA346131523OTOFc.5405C>G (p.Ala1802Gly)
c.3104C>G (p.Ala1035Gly)
c.3164C>G (p.Ala1055Gly)
c.3335C>G (p.Ala1112Gly)
c.5390C>G (p.Ala1797Gly)
c.5450C>G (p.Ala1817Gly)
c.5345C>G (p.Ala1782Gly)
2g.26461824G=CA1239825448OTOFc.5405C= (p.Ala1802=)
c.3104C= (p.Ala1035=)
c.3164C= (p.Ala1055=)
c.3335C= (p.Ala1112=)
c.5390C= (p.Ala1797=)
c.5450C= (p.Ala1817=)
c.5345C= (p.Ala1782=)
2g.26461824G>TCA346131524OTOFc.5405C>A (p.Ala1802Glu)
c.3104C>A (p.Ala1035Glu)
c.3164C>A (p.Ala1055Glu)
c.3335C>A (p.Ala1112Glu)
c.5390C>A (p.Ala1797Glu)
c.5450C>A (p.Ala1817Glu)
c.5345C>A (p.Ala1782Glu)
 COSMIC COSMIC COSMIC
2g.26461825C>ACA346131525OTOFc.5404G>T (p.Ala1802Ser)
c.3103G>T (p.Ala1035Ser)
c.3163G>T (p.Ala1055Ser)
c.3334G>T (p.Ala1112Ser)
c.5389G>T (p.Ala1797Ser)
c.5449G>T (p.Ala1817Ser)
c.5344G>T (p.Ala1782Ser)
2g.26461825C>GCA346131526OTOFc.5404G>C (p.Ala1802Pro)
c.3103G>C (p.Ala1035Pro)
c.3163G>C (p.Ala1055Pro)
c.3334G>C (p.Ala1112Pro)
c.5389G>C (p.Ala1797Pro)
c.5449G>C (p.Ala1817Pro)
c.5344G>C (p.Ala1782Pro)
2g.26461825C>TCA346131527OTOFc.5404G>A (p.Ala1802Thr)
c.3103G>A (p.Ala1035Thr)
c.3163G>A (p.Ala1055Thr)
c.3334G>A (p.Ala1112Thr)
c.5389G>A (p.Ala1797Thr)
c.5449G>A (p.Ala1817Thr)
c.5344G>A (p.Ala1782Thr)
 gnomAD v4
2g.26461826C>ACA425359352OTOFc.5403G>T (p.Ala1801=)
c.3102G>T (p.Ala1034=)
c.3162G>T (p.Ala1054=)
c.3333G>T (p.Ala1111=)
c.5388G>T (p.Ala1796=)
c.5448G>T (p.Ala1816=)
c.5343G>T (p.Ala1781=)
2g.26461826C=CA1239825449OTOFc.5403G= (p.Ala1801=)
c.3102G= (p.Ala1034=)
c.3162G= (p.Ala1054=)
c.3333G= (p.Ala1111=)
c.5388G= (p.Ala1796=)
c.5448G= (p.Ala1816=)
c.5343G= (p.Ala1781=)
2g.26461826C>GCA425359353OTOFc.5403G>C (p.Ala1801=)
c.3102G>C (p.Ala1034=)
c.3162G>C (p.Ala1054=)
c.3333G>C (p.Ala1111=)
c.5388G>C (p.Ala1796=)
c.5448G>C (p.Ala1816=)
c.5343G>C (p.Ala1781=)
2g.26461826C>TCA1562833OTOFc.5403G>A (p.Ala1801=)
c.3102G>A (p.Ala1034=)
c.3162G>A (p.Ala1054=)
c.3333G>A (p.Ala1111=)
c.5388G>A (p.Ala1796=)
c.5448G>A (p.Ala1816=)
c.5343G>A (p.Ala1781=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461827G>ACA1562834OTOFc.5402C>T (p.Ala1801Val)
c.3101C>T (p.Ala1034Val)
c.3161C>T (p.Ala1054Val)
c.3332C>T (p.Ala1111Val)
c.5387C>T (p.Ala1796Val)
c.5447C>T (p.Ala1816Val)
c.5342C>T (p.Ala1781Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461827G>CCA346131528OTOFc.5402C>G (p.Ala1801Gly)
c.3101C>G (p.Ala1034Gly)
c.3161C>G (p.Ala1054Gly)
c.3332C>G (p.Ala1111Gly)
c.5387C>G (p.Ala1796Gly)
c.5447C>G (p.Ala1816Gly)
c.5342C>G (p.Ala1781Gly)
 gnomAD v4
2g.26461827G=CA1239825450OTOFc.5402C= (p.Ala1801=)
c.3101C= (p.Ala1034=)
c.3161C= (p.Ala1054=)
c.3332C= (p.Ala1111=)
c.5387C= (p.Ala1796=)
c.5447C= (p.Ala1816=)
c.5342C= (p.Ala1781=)
2g.26461827G>TCA346131529OTOFc.5402C>A (p.Ala1801Glu)
c.3101C>A (p.Ala1034Glu)
c.3161C>A (p.Ala1054Glu)
c.3332C>A (p.Ala1111Glu)
c.5387C>A (p.Ala1796Glu)
c.5447C>A (p.Ala1816Glu)
c.5342C>A (p.Ala1781Glu)
2g.26461828C>ACA346131530OTOFc.5401G>T (p.Ala1801Ser)
c.3100G>T (p.Ala1034Ser)
c.3160G>T (p.Ala1054Ser)
c.3331G>T (p.Ala1111Ser)
c.5386G>T (p.Ala1796Ser)
c.5446G>T (p.Ala1816Ser)
c.5341G>T (p.Ala1781Ser)
2g.26461828C=CA1239825451OTOFc.5401G= (p.Ala1801=)
c.3100G= (p.Ala1034=)
c.3160G= (p.Ala1054=)
c.3331G= (p.Ala1111=)
c.5386G= (p.Ala1796=)
c.5446G= (p.Ala1816=)
c.5341G= (p.Ala1781=)
2g.26461828C>GCA346131531OTOFc.5401G>C (p.Ala1801Pro)
c.3100G>C (p.Ala1034Pro)
c.3160G>C (p.Ala1054Pro)
c.3331G>C (p.Ala1111Pro)
c.5386G>C (p.Ala1796Pro)
c.5446G>C (p.Ala1816Pro)
c.5341G>C (p.Ala1781Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.26461828C>TCA346131532OTOFc.5401G>A (p.Ala1801Thr)
c.3100G>A (p.Ala1034Thr)
c.3160G>A (p.Ala1054Thr)
c.3331G>A (p.Ala1111Thr)
c.5386G>A (p.Ala1796Thr)
c.5446G>A (p.Ala1816Thr)
c.5341G>A (p.Ala1781Thr)
 dbSNP gnomAD v2
2g.26461829C>ACA425359354OTOFc.5400G>T (p.Leu1800=)
c.3099G>T (p.Leu1033=)
c.3159G>T (p.Leu1053=)
c.3330G>T (p.Leu1110=)
c.5385G>T (p.Leu1795=)
c.5445G>T (p.Leu1815=)
c.5340G>T (p.Leu1780=)
2g.26461829C>GCA425359355OTOFc.5400G>C (p.Leu1800=)
c.3099G>C (p.Leu1033=)
c.3159G>C (p.Leu1053=)
c.3330G>C (p.Leu1110=)
c.5385G>C (p.Leu1795=)
c.5445G>C (p.Leu1815=)
c.5340G>C (p.Leu1780=)
2g.26461829C>TCA425359356OTOFc.5400G>A (p.Leu1800=)
c.3099G>A (p.Leu1033=)
c.3159G>A (p.Leu1053=)
c.3330G>A (p.Leu1110=)
c.5385G>A (p.Leu1795=)
c.5445G>A (p.Leu1815=)
c.5340G>A (p.Leu1780=)
2g.26461830A>CCA346131533OTOFc.5399T>G (p.Leu1800Arg)
c.3098T>G (p.Leu1033Arg)
c.3158T>G (p.Leu1053Arg)
c.3329T>G (p.Leu1110Arg)
c.5384T>G (p.Leu1795Arg)
c.5444T>G (p.Leu1815Arg)
c.5339T>G (p.Leu1780Arg)
2g.26461830A>GCA346131535OTOFc.5399T>C (p.Leu1800Pro)
c.3098T>C (p.Leu1033Pro)
c.3158T>C (p.Leu1053Pro)
c.3329T>C (p.Leu1110Pro)
c.5384T>C (p.Leu1795Pro)
c.5444T>C (p.Leu1815Pro)
c.5339T>C (p.Leu1780Pro)
2g.26461830A>TCA346131534OTOFc.5399T>A (p.Leu1800Gln)
c.3098T>A (p.Leu1033Gln)
c.3158T>A (p.Leu1053Gln)
c.3329T>A (p.Leu1110Gln)
c.5384T>A (p.Leu1795Gln)
c.5444T>A (p.Leu1815Gln)
c.5339T>A (p.Leu1780Gln)
2g.26461831G>ACA425359357OTOFc.5398C>T (p.Leu1800=)
c.3097C>T (p.Leu1033=)
c.3157C>T (p.Leu1053=)
c.3328C>T (p.Leu1110=)
c.5383C>T (p.Leu1795=)
c.5443C>T (p.Leu1815=)
c.5338C>T (p.Leu1780=)
 gnomAD v4
2g.26461831G>CCA346131536OTOFc.5398C>G (p.Leu1800Val)
c.3097C>G (p.Leu1033Val)
c.3157C>G (p.Leu1053Val)
c.3328C>G (p.Leu1110Val)
c.5383C>G (p.Leu1795Val)
c.5443C>G (p.Leu1815Val)
c.5338C>G (p.Leu1780Val)
2g.26461831G>TCA346131537OTOFc.5398C>A (p.Leu1800Met)
c.3097C>A (p.Leu1033Met)
c.3157C>A (p.Leu1053Met)
c.3328C>A (p.Leu1110Met)
c.5383C>A (p.Leu1795Met)
c.5443C>A (p.Leu1815Met)
c.5338C>A (p.Leu1780Met)
2g.26461832G>ACA425359358OTOFc.5397C>T (p.Tyr1799=)
c.3096C>T (p.Tyr1032=)
c.3156C>T (p.Tyr1052=)
c.3327C>T (p.Tyr1109=)
c.5382C>T (p.Tyr1794=)
c.5442C>T (p.Tyr1814=)
c.5337C>T (p.Tyr1779=)
 dbSNP gnomAD v2 gnomAD v4
2g.26461832G>CCA346131538OTOFc.5397C>G (p.Tyr1799Ter)
c.3096C>G (p.Tyr1032Ter)
c.3156C>G (p.Tyr1052Ter)
c.3327C>G (p.Tyr1109Ter)
c.5382C>G (p.Tyr1794Ter)
c.5442C>G (p.Tyr1814Ter)
c.5337C>G (p.Tyr1779Ter)
2g.26461832G=CA1239825452OTOFc.5397C= (p.Tyr1799=)
c.3096C= (p.Tyr1032=)
c.3156C= (p.Tyr1052=)
c.3327C= (p.Tyr1109=)
c.5382C= (p.Tyr1794=)
c.5442C= (p.Tyr1814=)
c.5337C= (p.Tyr1779=)
2g.26461832G>TCA346131539OTOFc.5397C>A (p.Tyr1799Ter)
c.3096C>A (p.Tyr1032Ter)
c.3156C>A (p.Tyr1052Ter)
c.3327C>A (p.Tyr1109Ter)
c.5382C>A (p.Tyr1794Ter)
c.5442C>A (p.Tyr1814Ter)
c.5337C>A (p.Tyr1779Ter)
2g.26461833T>ACA1562835OTOFc.5396A>T (p.Tyr1799Phe)
c.3095A>T (p.Tyr1032Phe)
c.3155A>T (p.Tyr1052Phe)
c.3326A>T (p.Tyr1109Phe)
c.5381A>T (p.Tyr1794Phe)
c.5441A>T (p.Tyr1814Phe)
c.5336A>T (p.Tyr1779Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461833T>CCA346131540OTOFc.5396A>G (p.Tyr1799Cys)
c.3095A>G (p.Tyr1032Cys)
c.3155A>G (p.Tyr1052Cys)
c.3326A>G (p.Tyr1109Cys)
c.5381A>G (p.Tyr1794Cys)
c.5441A>G (p.Tyr1814Cys)
c.5336A>G (p.Tyr1779Cys)
2g.26461833T>GCA346131541OTOFc.5396A>C (p.Tyr1799Ser)
c.3095A>C (p.Tyr1032Ser)
c.3155A>C (p.Tyr1052Ser)
c.3326A>C (p.Tyr1109Ser)
c.5381A>C (p.Tyr1794Ser)
c.5441A>C (p.Tyr1814Ser)
c.5336A>C (p.Tyr1779Ser)
2g.26461833T=CA1239825453OTOFc.5396A= (p.Tyr1799=)
c.3095A= (p.Tyr1032=)
c.3155A= (p.Tyr1052=)
c.3326A= (p.Tyr1109=)
c.5381A= (p.Tyr1794=)
c.5441A= (p.Tyr1814=)
c.5336A= (p.Tyr1779=)
2g.26461834A=CA1239825454OTOFc.5395T= (p.Tyr1799=)
c.3094T= (p.Tyr1032=)
c.3154T= (p.Tyr1052=)
c.3325T= (p.Tyr1109=)
c.5380T= (p.Tyr1794=)
c.5440T= (p.Tyr1814=)
c.5335T= (p.Tyr1779=)
2g.26461834A>CCA346131542OTOFc.5395T>G (p.Tyr1799Asp)
c.3094T>G (p.Tyr1032Asp)
c.3154T>G (p.Tyr1052Asp)
c.3325T>G (p.Tyr1109Asp)
c.5380T>G (p.Tyr1794Asp)
c.5440T>G (p.Tyr1814Asp)
c.5335T>G (p.Tyr1779Asp)
2g.26461834A>GCA1562836OTOFc.5395T>C (p.Tyr1799His)
c.3094T>C (p.Tyr1032His)
c.3154T>C (p.Tyr1052His)
c.3325T>C (p.Tyr1109His)
c.5380T>C (p.Tyr1794His)
c.5440T>C (p.Tyr1814His)
c.5335T>C (p.Tyr1779His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461834A>TCA346131543OTOFc.5395T>A (p.Tyr1799Asn)
c.3094T>A (p.Tyr1032Asn)
c.3154T>A (p.Tyr1052Asn)
c.3325T>A (p.Tyr1109Asn)
c.5380T>A (p.Tyr1794Asn)
c.5440T>A (p.Tyr1814Asn)
c.5335T>A (p.Tyr1779Asn)
2g.26461835G>ACA142932OTOFc.5394C>T (p.Asp1798=)
c.3093C>T (p.Asp1031=)
c.3153C>T (p.Asp1051=)
c.3324C>T (p.Asp1108=)
c.5379C>T (p.Asp1793=)
c.5439C>T (p.Asp1813=)
c.5334C>T (p.Asp1778=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461835G>CCA346131545OTOFc.5394C>G (p.Asp1798Glu)
c.3093C>G (p.Asp1031Glu)
c.3153C>G (p.Asp1051Glu)
c.3324C>G (p.Asp1108Glu)
c.5379C>G (p.Asp1793Glu)
c.5439C>G (p.Asp1813Glu)
c.5334C>G (p.Asp1778Glu)
2g.26461835G=CA1239825455OTOFc.5394C= (p.Asp1798=)
c.3093C= (p.Asp1031=)
c.3153C= (p.Asp1051=)
c.3324C= (p.Asp1108=)
c.5379C= (p.Asp1793=)
c.5439C= (p.Asp1813=)
c.5334C= (p.Asp1778=)
2g.26461835G>TCA346131544OTOFc.5394C>A (p.Asp1798Glu)
c.3093C>A (p.Asp1031Glu)
c.3153C>A (p.Asp1051Glu)
c.3324C>A (p.Asp1108Glu)
c.5379C>A (p.Asp1793Glu)
c.5439C>A (p.Asp1813Glu)
c.5334C>A (p.Asp1778Glu)
2g.26461836T>ACA346131546OTOFc.5393A>T (p.Asp1798Val)
c.3092A>T (p.Asp1031Val)
c.3152A>T (p.Asp1051Val)
c.3323A>T (p.Asp1108Val)
c.5378A>T (p.Asp1793Val)
c.5438A>T (p.Asp1813Val)
c.5333A>T (p.Asp1778Val)
2g.26461836T>CCA346131547OTOFc.5393A>G (p.Asp1798Gly)
c.3092A>G (p.Asp1031Gly)
c.3152A>G (p.Asp1051Gly)
c.3323A>G (p.Asp1108Gly)
c.5378A>G (p.Asp1793Gly)
c.5438A>G (p.Asp1813Gly)
c.5333A>G (p.Asp1778Gly)
2g.26461836T>GCA346131548OTOFc.5393A>C (p.Asp1798Ala)
c.3092A>C (p.Asp1031Ala)
c.3152A>C (p.Asp1051Ala)
c.3323A>C (p.Asp1108Ala)
c.5378A>C (p.Asp1793Ala)
c.5438A>C (p.Asp1813Ala)
c.5333A>C (p.Asp1778Ala)
2g.26461837C>ACA346131549OTOFc.5392G>T (p.Asp1798Tyr)
c.3091G>T (p.Asp1031Tyr)
c.3151G>T (p.Asp1051Tyr)
c.3322G>T (p.Asp1108Tyr)
c.5377G>T (p.Asp1793Tyr)
c.5437G>T (p.Asp1813Tyr)
c.5332G>T (p.Asp1778Tyr)
2g.26461837C=CA1239825456OTOFc.5392G= (p.Asp1798=)
c.3091G= (p.Asp1031=)
c.3151G= (p.Asp1051=)
c.3322G= (p.Asp1108=)
c.5377G= (p.Asp1793=)
c.5437G= (p.Asp1813=)
c.5332G= (p.Asp1778=)
2g.26461837C>GCA346131550OTOFc.5392G>C (p.Asp1798His)
c.3091G>C (p.Asp1031His)
c.3151G>C (p.Asp1051His)
c.3322G>C (p.Asp1108His)
c.5377G>C (p.Asp1793His)
c.5437G>C (p.Asp1813His)
c.5332G>C (p.Asp1778His)
2g.26461837C>TCA44409187OTOFc.5392G>A (p.Asp1798Asn)
c.3091G>A (p.Asp1031Asn)
c.3151G>A (p.Asp1051Asn)
c.3322G>A (p.Asp1108Asn)
c.5377G>A (p.Asp1793Asn)
c.5437G>A (p.Asp1813Asn)
c.5332G>A (p.Asp1778Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461838G>ACA142930OTOFc.5391C>T (p.Phe1797=)
c.3090C>T (p.Phe1030=)
c.3150C>T (p.Phe1050=)
c.3321C>T (p.Phe1107=)
c.5376C>T (p.Phe1792=)
c.5436C>T (p.Phe1812=)
c.5331C>T (p.Phe1777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461838G>CCA346131551OTOFc.5391C>G (p.Phe1797Leu)
c.3090C>G (p.Phe1030Leu)
c.3150C>G (p.Phe1050Leu)
c.3321C>G (p.Phe1107Leu)
c.5376C>G (p.Phe1792Leu)
c.5436C>G (p.Phe1812Leu)
c.5331C>G (p.Phe1777Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26461838G=CA1239825457OTOFc.5391C= (p.Phe1797=)
c.3090C= (p.Phe1030=)
c.3150C= (p.Phe1050=)
c.3321C= (p.Phe1107=)
c.5376C= (p.Phe1792=)
c.5436C= (p.Phe1812=)
c.5331C= (p.Phe1777=)
2g.26461838G>TCA346131552OTOFc.5391C>A (p.Phe1797Leu)
c.3090C>A (p.Phe1030Leu)
c.3150C>A (p.Phe1050Leu)
c.3321C>A (p.Phe1107Leu)
c.5376C>A (p.Phe1792Leu)
c.5436C>A (p.Phe1812Leu)
c.5331C>A (p.Phe1777Leu)
 gnomAD v4
2g.26461839A=CA1239825458OTOFc.5390T= (p.Phe1797=)
c.3089T= (p.Phe1030=)
c.3149T= (p.Phe1050=)
c.3320T= (p.Phe1107=)
c.5375T= (p.Phe1792=)
c.5435T= (p.Phe1812=)
c.5330T= (p.Phe1777=)
2g.26461839A>CCA346131553OTOFc.5390T>G (p.Phe1797Cys)
c.3089T>G (p.Phe1030Cys)
c.3149T>G (p.Phe1050Cys)
c.3320T>G (p.Phe1107Cys)
c.5375T>G (p.Phe1792Cys)
c.5435T>G (p.Phe1812Cys)
c.5330T>G (p.Phe1777Cys)
 dbSNP gnomAD v4
2g.26461839A>GCA346131554OTOFc.5390T>C (p.Phe1797Ser)
c.3089T>C (p.Phe1030Ser)
c.3149T>C (p.Phe1050Ser)
c.3320T>C (p.Phe1107Ser)
c.5375T>C (p.Phe1792Ser)
c.5435T>C (p.Phe1812Ser)
c.5330T>C (p.Phe1777Ser)
2g.26461839A>TCA346131555OTOFc.5390T>A (p.Phe1797Tyr)
c.3089T>A (p.Phe1030Tyr)
c.3149T>A (p.Phe1050Tyr)
c.3320T>A (p.Phe1107Tyr)
c.5375T>A (p.Phe1792Tyr)
c.5435T>A (p.Phe1812Tyr)
c.5330T>A (p.Phe1777Tyr)
2g.26461840A>CCA346131557OTOFc.5389T>G (p.Phe1797Val)
c.3088T>G (p.Phe1030Val)
c.3148T>G (p.Phe1050Val)
c.3319T>G (p.Phe1107Val)
c.5374T>G (p.Phe1792Val)
c.5434T>G (p.Phe1812Val)
c.5329T>G (p.Phe1777Val)
2g.26461840A>GCA346131558OTOFc.5389T>C (p.Phe1797Leu)
c.3088T>C (p.Phe1030Leu)
c.3148T>C (p.Phe1050Leu)
c.3319T>C (p.Phe1107Leu)
c.5374T>C (p.Phe1792Leu)
c.5434T>C (p.Phe1812Leu)
c.5329T>C (p.Phe1777Leu)
2g.26461840A>TCA346131556OTOFc.5389T>A (p.Phe1797Ile)
c.3088T>A (p.Phe1030Ile)
c.3148T>A (p.Phe1050Ile)
c.3319T>A (p.Phe1107Ile)
c.5374T>A (p.Phe1792Ile)
c.5434T>A (p.Phe1812Ile)
c.5329T>A (p.Phe1777Ile)
2g.26461841G>ACA1562837OTOFc.5388C>T (p.Pro1796=)
c.3087C>T (p.Pro1029=)
c.3147C>T (p.Pro1049=)
c.3318C>T (p.Pro1106=)
c.5373C>T (p.Pro1791=)
c.5433C>T (p.Pro1811=)
c.5328C>T (p.Pro1776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26461841G>CCA425359359OTOFc.5388C>G (p.Pro1796=)
c.3087C>G (p.Pro1029=)
c.3147C>G (p.Pro1049=)
c.3318C>G (p.Pro1106=)
c.5373C>G (p.Pro1791=)
c.5433C>G (p.Pro1811=)
c.5328C>G (p.Pro1776=)
2g.26461841G=CA1239825459OTOFc.5388C= (p.Pro1796=)
c.3087C= (p.Pro1029=)
c.3147C= (p.Pro1049=)
c.3318C= (p.Pro1106=)
c.5373C= (p.Pro1791=)
c.5433C= (p.Pro1811=)
c.5328C= (p.Pro1776=)
2g.26461841G>TCA425359360OTOFc.5388C>A (p.Pro1796=)
c.3087C>A (p.Pro1029=)
c.3147C>A (p.Pro1049=)
c.3318C>A (p.Pro1106=)
c.5373C>A (p.Pro1791=)
c.5433C>A (p.Pro1811=)
c.5328C>A (p.Pro1776=)
2g.26461842G>ACA346131559OTOFc.5387C>T (p.Pro1796Leu)
c.3086C>T (p.Pro1029Leu)
c.3146C>T (p.Pro1049Leu)
c.3317C>T (p.Pro1106Leu)
c.5372C>T (p.Pro1791Leu)
c.5432C>T (p.Pro1811Leu)
c.5327C>T (p.Pro1776Leu)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461842G>CCA346131560OTOFc.5387C>G (p.Pro1796Arg)
c.3086C>G (p.Pro1029Arg)
c.3146C>G (p.Pro1049Arg)
c.3317C>G (p.Pro1106Arg)
c.5372C>G (p.Pro1791Arg)
c.5432C>G (p.Pro1811Arg)
c.5327C>G (p.Pro1776Arg)
2g.26461842G>TCA346131561OTOFc.5387C>A (p.Pro1796His)
c.3086C>A (p.Pro1029His)
c.3146C>A (p.Pro1049His)
c.3317C>A (p.Pro1106His)
c.5372C>A (p.Pro1791His)
c.5432C>A (p.Pro1811His)
c.5327C>A (p.Pro1776His)
2g.26461843G>ACA44409193OTOFc.5386C>T (p.Pro1796Ser)
c.3085C>T (p.Pro1029Ser)
c.3145C>T (p.Pro1049Ser)
c.3316C>T (p.Pro1106Ser)
c.5371C>T (p.Pro1791Ser)
c.5431C>T (p.Pro1811Ser)
c.5326C>T (p.Pro1776Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26461843G>CCA346131562OTOFc.5386C>G (p.Pro1796Ala)
c.3085C>G (p.Pro1029Ala)
c.3145C>G (p.Pro1049Ala)
c.3316C>G (p.Pro1106Ala)
c.5371C>G (p.Pro1791Ala)
c.5431C>G (p.Pro1811Ala)
c.5326C>G (p.Pro1776Ala)
2g.26461843G=CA1239825460OTOFc.5386C= (p.Pro1796=)
c.3085C= (p.Pro1029=)
c.3145C= (p.Pro1049=)
c.3316C= (p.Pro1106=)
c.5371C= (p.Pro1791=)
c.5431C= (p.Pro1811=)
c.5326C= (p.Pro1776=)
2g.26461843G>TCA346131563OTOFc.5386C>A (p.Pro1796Thr)
c.3085C>A (p.Pro1029Thr)
c.3145C>A (p.Pro1049Thr)
c.3316C>A (p.Pro1106Thr)
c.5371C>A (p.Pro1791Thr)
c.5431C>A (p.Pro1811Thr)
c.5326C>A (p.Pro1776Thr)
2g.26461844G>ACA425359361OTOFc.5385C>T (p.Phe1795=)
c.3084C>T (p.Phe1028=)
c.3144C>T (p.Phe1048=)
c.3315C>T (p.Phe1105=)
c.5370C>T (p.Phe1790=)
c.5430C>T (p.Phe1810=)
c.5325C>T (p.Phe1775=)
 dbSNP
2g.26461844G>CCA346131564OTOFc.5385C>G (p.Phe1795Leu)
c.3084C>G (p.Phe1028Leu)
c.3144C>G (p.Phe1048Leu)
c.3315C>G (p.Phe1105Leu)
c.5370C>G (p.Phe1790Leu)
c.5430C>G (p.Phe1810Leu)
c.5325C>G (p.Phe1775Leu)
2g.26461844G=CA1239825461OTOFc.5385C= (p.Phe1795=)
c.3084C= (p.Phe1028=)
c.3144C= (p.Phe1048=)
c.3315C= (p.Phe1105=)
c.5370C= (p.Phe1790=)
c.5430C= (p.Phe1810=)
c.5325C= (p.Phe1775=)
2g.26461844G>TCA346131565OTOFc.5385C>A (p.Phe1795Leu)
c.3084C>A (p.Phe1028Leu)
c.3144C>A (p.Phe1048Leu)
c.3315C>A (p.Phe1105Leu)
c.5370C>A (p.Phe1790Leu)
c.5430C>A (p.Phe1810Leu)
c.5325C>A (p.Phe1775Leu)
2g.26461845A=CA1239825462OTOFc.5384T= (p.Phe1795=)
c.3083T= (p.Phe1028=)
c.3143T= (p.Phe1048=)
c.3314T= (p.Phe1105=)
c.5369T= (p.Phe1790=)
c.5429T= (p.Phe1810=)
c.5324T= (p.Phe1775=)
2g.26461845A>CCA345136OTOFc.5384T>G (p.Phe1795Cys)
c.3083T>G (p.Phe1028Cys)
c.3143T>G (p.Phe1048Cys)
c.3314T>G (p.Phe1105Cys)
c.5369T>G (p.Phe1790Cys)
c.5429T>G (p.Phe1810Cys)
c.5324T>G (p.Phe1775Cys)
 ClinVar dbSNP
2g.26461845A>GCA346131566OTOFc.5384T>C (p.Phe1795Ser)
c.3083T>C (p.Phe1028Ser)
c.3143T>C (p.Phe1048Ser)
c.3314T>C (p.Phe1105Ser)
c.5369T>C (p.Phe1790Ser)
c.5429T>C (p.Phe1810Ser)
c.5324T>C (p.Phe1775Ser)
2g.26461845A>TCA346131567OTOFc.5384T>A (p.Phe1795Tyr)
c.3083T>A (p.Phe1028Tyr)
c.3143T>A (p.Phe1048Tyr)
c.3314T>A (p.Phe1105Tyr)
c.5369T>A (p.Phe1790Tyr)
c.5429T>A (p.Phe1810Tyr)
c.5324T>A (p.Phe1775Tyr)
2g.26461846dupCA2658232655OTOFc.5384dup (p.Phe1797LeufsTer?)
c.3083dup (p.Phe1030LeufsTer?)
c.3143dup (p.Phe1050LeufsTer?)
c.3314dup (p.Phe1107LeufsTer?)
c.5369dup (p.Phe1792LeufsTer?)
c.5429dup (p.Phe1812LeufsTer?)
c.5324dup (p.Phe1777LeufsTer?)
 gnomAD v4
2g.26461846A>CCA346131570OTOFc.5383T>G (p.Phe1795Val)
c.3082T>G (p.Phe1028Val)
c.3142T>G (p.Phe1048Val)
c.3313T>G (p.Phe1105Val)
c.5368T>G (p.Phe1790Val)
c.5428T>G (p.Phe1810Val)
c.5323T>G (p.Phe1775Val)
2g.26461846A>GCA346131569OTOFc.5383T>C (p.Phe1795Leu)
c.3082T>C (p.Phe1028Leu)
c.3142T>C (p.Phe1048Leu)
c.3313T>C (p.Phe1105Leu)
c.5368T>C (p.Phe1790Leu)
c.5428T>C (p.Phe1810Leu)
c.5323T>C (p.Phe1775Leu)
2g.26461846A>TCA346131568OTOFc.5383T>A (p.Phe1795Ile)
c.3082T>A (p.Phe1028Ile)
c.3142T>A (p.Phe1048Ile)
c.3313T>A (p.Phe1105Ile)
c.5368T>A (p.Phe1790Ile)
c.5428T>A (p.Phe1810Ile)
c.5323T>A (p.Phe1775Ile)
2g.26461847C>ACA425359362OTOFc.5382G>T (p.Leu1794=)
c.3081G>T (p.Leu1027=)
c.3141G>T (p.Leu1047=)
c.3312G>T (p.Leu1104=)
c.5367G>T (p.Leu1789=)
c.5427G>T (p.Leu1809=)
c.5322G>T (p.Leu1774=)
2g.26461847C>GCA425359363OTOFc.5382G>C (p.Leu1794=)
c.3081G>C (p.Leu1027=)
c.3141G>C (p.Leu1047=)
c.3312G>C (p.Leu1104=)
c.5367G>C (p.Leu1789=)
c.5427G>C (p.Leu1809=)
c.5322G>C (p.Leu1774=)
2g.26461847C>TCA425359364OTOFc.5382G>A (p.Leu1794=)
c.3081G>A (p.Leu1027=)
c.3141G>A (p.Leu1047=)
c.3312G>A (p.Leu1104=)
c.5367G>A (p.Leu1789=)
c.5427G>A (p.Leu1809=)
c.5322G>A (p.Leu1774=)
2g.26461848A>CCA346131571OTOFc.5381T>G (p.Leu1794Arg)
c.3080T>G (p.Leu1027Arg)
c.3140T>G (p.Leu1047Arg)
c.3311T>G (p.Leu1104Arg)
c.5366T>G (p.Leu1789Arg)
c.5426T>G (p.Leu1809Arg)
c.5321T>G (p.Leu1774Arg)
2g.26461848A>GCA346131572OTOFc.5381T>C (p.Leu1794Pro)
c.3080T>C (p.Leu1027Pro)
c.3140T>C (p.Leu1047Pro)
c.3311T>C (p.Leu1104Pro)
c.5366T>C (p.Leu1789Pro)
c.5426T>C (p.Leu1809Pro)
c.5321T>C (p.Leu1774Pro)
2g.26461848A>TCA346131573OTOFc.5381T>A (p.Leu1794Gln)
c.3080T>A (p.Leu1027Gln)
c.3140T>A (p.Leu1047Gln)
c.3311T>A (p.Leu1104Gln)
c.5366T>A (p.Leu1789Gln)
c.5426T>A (p.Leu1809Gln)
c.5321T>A (p.Leu1774Gln)
2g.26461848_26461849insTCA2749240304OTOFc.5380_5381insA (p.Leu1794HisfsTer?)
c.3079_3080insA (p.Leu1027HisfsTer?)
c.3139_3140insA (p.Leu1047HisfsTer?)
c.3310_3311insA (p.Leu1104HisfsTer?)
c.5365_5366insA (p.Leu1789HisfsTer?)
c.5425_5426insA (p.Leu1809HisfsTer?)
c.5320_5321insA (p.Leu1774HisfsTer?)
2g.26461849G>ACA425359365OTOFc.5380C>T (p.Leu1794=)
c.3079C>T (p.Leu1027=)
c.3139C>T (p.Leu1047=)
c.3310C>T (p.Leu1104=)
c.5365C>T (p.Leu1789=)
c.5425C>T (p.Leu1809=)
c.5320C>T (p.Leu1774=)
2g.26461849G>CCA346131574OTOFc.5380C>G (p.Leu1794Val)
c.3079C>G (p.Leu1027Val)
c.3139C>G (p.Leu1047Val)
c.3310C>G (p.Leu1104Val)
c.5365C>G (p.Leu1789Val)
c.5425C>G (p.Leu1809Val)
c.5320C>G (p.Leu1774Val)
 dbSNP gnomAD v2 gnomAD v4
2g.26461849G=CA1239825463OTOFc.5380C= (p.Leu1794=)
c.3079C= (p.Leu1027=)
c.3139C= (p.Leu1047=)
c.3310C= (p.Leu1104=)
c.5365C= (p.Leu1789=)
c.5425C= (p.Leu1809=)
c.5320C= (p.Leu1774=)
2g.26461849G>TCA346131575OTOFc.5380C>A (p.Leu1794Met)
c.3079C>A (p.Leu1027Met)
c.3139C>A (p.Leu1047Met)
c.3310C>A (p.Leu1104Met)
c.5365C>A (p.Leu1789Met)
c.5425C>A (p.Leu1809Met)
c.5320C>A (p.Leu1774Met)
2g.26461850delCA2658232656OTOFc.5380del (p.Leu1794CysfsTer?)
c.3079del (p.Leu1027CysfsTer?)
c.3139del (p.Leu1047CysfsTer?)
c.3310del (p.Leu1104CysfsTer?)
c.5365del (p.Leu1789CysfsTer?)
c.5425del (p.Leu1809CysfsTer?)
c.5320del (p.Leu1774CysfsTer?)
 gnomAD v4
2g.26461850G>ACA425359366OTOFc.5379C>T (p.Tyr1793=)
c.3078C>T (p.Tyr1026=)
c.3138C>T (p.Tyr1046=)
c.3309C>T (p.Tyr1103=)
c.5364C>T (p.Tyr1788=)
c.5424C>T (p.Tyr1808=)
c.5319C>T (p.Tyr1773=)
 ClinVar
2g.26461850G>CCA346131576OTOFc.5379C>G (p.Tyr1793Ter)
c.3078C>G (p.Tyr1026Ter)
c.3138C>G (p.Tyr1046Ter)
c.3309C>G (p.Tyr1103Ter)
c.5364C>G (p.Tyr1788Ter)
c.5424C>G (p.Tyr1808Ter)
c.5319C>G (p.Tyr1773Ter)
 ClinVar dbSNP
2g.26461850G=CA1239825464OTOFc.5379C= (p.Tyr1793=)
c.3078C= (p.Tyr1026=)
c.3138C= (p.Tyr1046=)
c.3309C= (p.Tyr1103=)
c.5364C= (p.Tyr1788=)
c.5424C= (p.Tyr1808=)
c.5319C= (p.Tyr1773=)
2g.26461850G>TCA346131577OTOFc.5379C>A (p.Tyr1793Ter)
c.3078C>A (p.Tyr1026Ter)
c.3138C>A (p.Tyr1046Ter)
c.3309C>A (p.Tyr1103Ter)
c.5364C>A (p.Tyr1788Ter)
c.5424C>A (p.Tyr1808Ter)
c.5319C>A (p.Tyr1773Ter)
2g.26461851T>ACA346131578OTOFc.5378A>T (p.Tyr1793Phe)
c.3077A>T (p.Tyr1026Phe)
c.3137A>T (p.Tyr1046Phe)
c.3308A>T (p.Tyr1103Phe)
c.5363A>T (p.Tyr1788Phe)
c.5423A>T (p.Tyr1808Phe)
c.5318A>T (p.Tyr1773Phe)
2g.26461851T>CCA346131579OTOFc.5378A>G (p.Tyr1793Cys)
c.3077A>G (p.Tyr1026Cys)
c.3137A>G (p.Tyr1046Cys)
c.3308A>G (p.Tyr1103Cys)
c.5363A>G (p.Tyr1788Cys)
c.5423A>G (p.Tyr1808Cys)
c.5318A>G (p.Tyr1773Cys)
2g.26461851T>GCA346131580OTOFc.5378A>C (p.Tyr1793Ser)
c.3077A>C (p.Tyr1026Ser)
c.3137A>C (p.Tyr1046Ser)
c.3308A>C (p.Tyr1103Ser)
c.5363A>C (p.Tyr1788Ser)
c.5423A>C (p.Tyr1808Ser)
c.5318A>C (p.Tyr1773Ser)
2g.26461852A>CCA346131581OTOFc.5377T>G (p.Tyr1793Asp)
c.3076T>G (p.Tyr1026Asp)
c.3136T>G (p.Tyr1046Asp)
c.3307T>G (p.Tyr1103Asp)
c.5362T>G (p.Tyr1788Asp)
c.5422T>G (p.Tyr1808Asp)
c.5317T>G (p.Tyr1773Asp)
2g.26461852A>GCA346131582OTOFc.5377T>C (p.Tyr1793His)
c.3076T>C (p.Tyr1026His)
c.3136T>C (p.Tyr1046His)
c.3307T>C (p.Tyr1103His)
c.5362T>C (p.Tyr1788His)
c.5422T>C (p.Tyr1808His)
c.5317T>C (p.Tyr1773His)
2g.26461852A>TCA346131583OTOFc.5377T>A (p.Tyr1793Asn)
c.3076T>A (p.Tyr1026Asn)
c.3136T>A (p.Tyr1046Asn)
c.3307T>A (p.Tyr1103Asn)
c.5362T>A (p.Tyr1788Asn)
c.5422T>A (p.Tyr1808Asn)
c.5317T>A (p.Tyr1773Asn)
2g.26461853G>ACA425359367OTOFc.5376C>T (p.Arg1792=)
c.3075C>T (p.Arg1025=)
c.3135C>T (p.Arg1045=)
c.3306C>T (p.Arg1102=)
c.5361C>T (p.Arg1787=)
c.5421C>T (p.Arg1807=)
c.5316C>T (p.Arg1772=)
2g.26461853G>CCA425359368OTOFc.5376C>G (p.Arg1792=)
c.3075C>G (p.Arg1025=)
c.3135C>G (p.Arg1045=)
c.3306C>G (p.Arg1102=)
c.5361C>G (p.Arg1787=)
c.5421C>G (p.Arg1807=)
c.5316C>G (p.Arg1772=)
 gnomAD v4
2g.26461853G>TCA425359369OTOFc.5376C>A (p.Arg1792=)
c.3075C>A (p.Arg1025=)
c.3135C>A (p.Arg1045=)
c.3306C>A (p.Arg1102=)
c.5361C>A (p.Arg1787=)
c.5421C>A (p.Arg1807=)
c.5316C>A (p.Arg1772=)
2g.26461854C>ACA346131584OTOFc.5375G>T (p.Arg1792Leu)
c.3074G>T (p.Arg1025Leu)
c.3134G>T (p.Arg1045Leu)
c.3305G>T (p.Arg1102Leu)
c.5360G>T (p.Arg1787Leu)
c.5420G>T (p.Arg1807Leu)
c.5315G>T (p.Arg1772Leu)
2g.26461854C=CA1239825465OTOFc.5375G= (p.Arg1792=)
c.3074G= (p.Arg1025=)
c.3134G= (p.Arg1045=)
c.3305G= (p.Arg1102=)
c.5360G= (p.Arg1787=)
c.5420G= (p.Arg1807=)
c.5315G= (p.Arg1772=)
2g.26461854C>GCA346131585OTOFc.5375G>C (p.Arg1792Pro)
c.3074G>C (p.Arg1025Pro)
c.3134G>C (p.Arg1045Pro)
c.3305G>C (p.Arg1102Pro)
c.5360G>C (p.Arg1787Pro)
c.5420G>C (p.Arg1807Pro)
c.5315G>C (p.Arg1772Pro)
2g.26461854C>TCA236032OTOFc.5375G>A (p.Arg1792His)
c.3074G>A (p.Arg1025His)
c.3134G>A (p.Arg1045His)
c.3305G>A (p.Arg1102His)
c.5360G>A (p.Arg1787His)
c.5420G>A (p.Arg1807His)
c.5315G>A (p.Arg1772His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461855G>ACA182451OTOFc.5374C>T (p.Arg1792Cys)
c.3073C>T (p.Arg1025Cys)
c.3133C>T (p.Arg1045Cys)
c.3304C>T (p.Arg1102Cys)
c.5359C>T (p.Arg1787Cys)
c.5419C>T (p.Arg1807Cys)
c.5314C>T (p.Arg1772Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26461855G>CCA346131586OTOFc.5374C>G (p.Arg1792Gly)
c.3073C>G (p.Arg1025Gly)
c.3133C>G (p.Arg1045Gly)
c.3304C>G (p.Arg1102Gly)
c.5359C>G (p.Arg1787Gly)
c.5419C>G (p.Arg1807Gly)
c.5314C>G (p.Arg1772Gly)
2g.26461855G=CA1239825466OTOFc.5374C= (p.Arg1792=)
c.3073C= (p.Arg1025=)
c.3133C= (p.Arg1045=)
c.3304C= (p.Arg1102=)
c.5359C= (p.Arg1787=)
c.5419C= (p.Arg1807=)
c.5314C= (p.Arg1772=)
2g.26461855G>TCA346131587OTOFc.5374C>A (p.Arg1792Ser)
c.3073C>A (p.Arg1025Ser)
c.3133C>A (p.Arg1045Ser)
c.3304C>A (p.Arg1102Ser)
c.5359C>A (p.Arg1787Ser)
c.5419C>A (p.Arg1807Ser)
c.5314C>A (p.Arg1772Ser)
2g.26461856C>ACA346131588OTOFc.5373G>T (p.Trp1791Cys)
c.3072G>T (p.Trp1024Cys)
c.3132G>T (p.Trp1044Cys)
c.3303G>T (p.Trp1101Cys)
c.5358G>T (p.Trp1786Cys)
c.5418G>T (p.Trp1806Cys)
c.5313G>T (p.Trp1771Cys)
2g.26461856C>GCA346131589OTOFc.5373G>C (p.Trp1791Cys)
c.3072G>C (p.Trp1024Cys)
c.3132G>C (p.Trp1044Cys)
c.3303G>C (p.Trp1101Cys)
c.5358G>C (p.Trp1786Cys)
c.5418G>C (p.Trp1806Cys)
c.5313G>C (p.Trp1771Cys)
2g.26461856C>TCA346131590OTOFc.5373G>A (p.Trp1791Ter)
c.3072G>A (p.Trp1024Ter)
c.3132G>A (p.Trp1044Ter)
c.3303G>A (p.Trp1101Ter)
c.5358G>A (p.Trp1786Ter)
c.5418G>A (p.Trp1806Ter)
c.5313G>A (p.Trp1771Ter)
 COSMIC COSMIC COSMIC
2g.26461857C>ACA346131593OTOFc.5372G>T (p.Trp1791Leu)
c.3071G>T (p.Trp1024Leu)
c.3131G>T (p.Trp1044Leu)
c.3302G>T (p.Trp1101Leu)
c.5357G>T (p.Trp1786Leu)
c.5417G>T (p.Trp1806Leu)
c.5312G>T (p.Trp1771Leu)
2g.26461857C>GCA346131591OTOFc.5372G>C (p.Trp1791Ser)
c.3071G>C (p.Trp1024Ser)
c.3131G>C (p.Trp1044Ser)
c.3302G>C (p.Trp1101Ser)
c.5357G>C (p.Trp1786Ser)
c.5417G>C (p.Trp1806Ser)
c.5312G>C (p.Trp1771Ser)
 gnomAD v4
2g.26461857C>TCA346131592OTOFc.5372G>A (p.Trp1791Ter)
c.3071G>A (p.Trp1024Ter)
c.3131G>A (p.Trp1044Ter)
c.3302G>A (p.Trp1101Ter)
c.5357G>A (p.Trp1786Ter)
c.5417G>A (p.Trp1806Ter)
c.5312G>A (p.Trp1771Ter)
2g.26461858delCA2576698813OTOFc.5371del (p.Trp1791GlyfsTer?)
c.3070del (p.Trp1024GlyfsTer?)
c.3130del (p.Trp1044GlyfsTer?)
c.3301del (p.Trp1101GlyfsTer?)
c.5356del (p.Trp1786GlyfsTer?)
c.5416del (p.Trp1806GlyfsTer?)
c.5311del (p.Trp1771GlyfsTer?)
 gnomAD v4
2g.26461858A>CCA346131594OTOFc.5371T>G (p.Trp1791Gly)
c.3070T>G (p.Trp1024Gly)
c.3130T>G (p.Trp1044Gly)
c.3301T>G (p.Trp1101Gly)
c.5356T>G (p.Trp1786Gly)
c.5416T>G (p.Trp1806Gly)
c.5311T>G (p.Trp1771Gly)
2g.26461858A>GCA346131595OTOFc.5371T>C (p.Trp1791Arg)
c.3070T>C (p.Trp1024Arg)
c.3130T>C (p.Trp1044Arg)
c.3301T>C (p.Trp1101Arg)
c.5356T>C (p.Trp1786Arg)
c.5416T>C (p.Trp1806Arg)
c.5311T>C (p.Trp1771Arg)
2g.26461858A>TCA346131596OTOFc.5371T>A (p.Trp1791Arg)
c.3070T>A (p.Trp1024Arg)
c.3130T>A (p.Trp1044Arg)
c.3301T>A (p.Trp1101Arg)
c.5356T>A (p.Trp1786Arg)
c.5416T>A (p.Trp1806Arg)
c.5311T>A (p.Trp1771Arg)
2g.26461859G>ACA425359370OTOFc.5370C>T (p.Asn1790=)
c.3069C>T (p.Asn1023=)
c.3129C>T (p.Asn1043=)
c.3300C>T (p.Asn1100=)
c.5355C>T (p.Asn1785=)
c.5415C>T (p.Asn1805=)
c.5310C>T (p.Asn1770=)
2g.26461859G>CCA346131597OTOFc.5370C>G (p.Asn1790Lys)
c.3069C>G (p.Asn1023Lys)
c.3129C>G (p.Asn1043Lys)
c.3300C>G (p.Asn1100Lys)
c.5355C>G (p.Asn1785Lys)
c.5415C>G (p.Asn1805Lys)
c.5310C>G (p.Asn1770Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.26461859G=CA1239825467OTOFc.5370C= (p.Asn1790=)
c.3069C= (p.Asn1023=)
c.3129C= (p.Asn1043=)
c.3300C= (p.Asn1100=)
c.5355C= (p.Asn1785=)
c.5415C= (p.Asn1805=)
c.5310C= (p.Asn1770=)
2g.26461859G>TCA346131598OTOFc.5370C>A (p.Asn1790Lys)
c.3069C>A (p.Asn1023Lys)
c.3129C>A (p.Asn1043Lys)
c.3300C>A (p.Asn1100Lys)
c.5355C>A (p.Asn1785Lys)
c.5415C>A (p.Asn1805Lys)
c.5310C>A (p.Asn1770Lys)
2g.26461860T>ACA346131599OTOFc.5369A>T (p.Asn1790Ile)
c.3068A>T (p.Asn1023Ile)
c.3128A>T (p.Asn1043Ile)
c.3299A>T (p.Asn1100Ile)
c.5354A>T (p.Asn1785Ile)
c.5414A>T (p.Asn1805Ile)
c.5309A>T (p.Asn1770Ile)
 gnomAD v4
2g.26461860T>CCA346131600OTOFc.5369A>G (p.Asn1790Ser)
c.3068A>G (p.Asn1023Ser)
c.3128A>G (p.Asn1043Ser)
c.3299A>G (p.Asn1100Ser)
c.5354A>G (p.Asn1785Ser)
c.5414A>G (p.Asn1805Ser)
c.5309A>G (p.Asn1770Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26461860T>GCA44409194OTOFc.5369A>C (p.Asn1790Thr)
c.3068A>C (p.Asn1023Thr)
c.3128A>C (p.Asn1043Thr)
c.3299A>C (p.Asn1100Thr)
c.5354A>C (p.Asn1785Thr)
c.5414A>C (p.Asn1805Thr)
c.5309A>C (p.Asn1770Thr)
 dbSNP gnomAD v4
2g.26461860T=CA1239825468OTOFc.5369A= (p.Asn1790=)
c.3068A= (p.Asn1023=)
c.3128A= (p.Asn1043=)
c.3299A= (p.Asn1100=)
c.5354A= (p.Asn1785=)
c.5414A= (p.Asn1805=)
c.5309A= (p.Asn1770=)
2g.26461861T>ACA346131601OTOFc.5368A>T (p.Asn1790Tyr)
c.3067A>T (p.Asn1023Tyr)
c.3127A>T (p.Asn1043Tyr)
c.3298A>T (p.Asn1100Tyr)
c.5353A>T (p.Asn1785Tyr)
c.5413A>T (p.Asn1805Tyr)
c.5308A>T (p.Asn1770Tyr)
2g.26461861T>CCA346131602OTOFc.5368A>G (p.Asn1790Asp)
c.3067A>G (p.Asn1023Asp)
c.3127A>G (p.Asn1043Asp)
c.3298A>G (p.Asn1100Asp)
c.5353A>G (p.Asn1785Asp)
c.5413A>G (p.Asn1805Asp)
c.5308A>G (p.Asn1770Asp)
2g.26461861T>GCA346131603OTOFc.5368A>C (p.Asn1790His)
c.3067A>C (p.Asn1023His)
c.3127A>C (p.Asn1043His)
c.3298A>C (p.Asn1100His)
c.5353A>C (p.Asn1785His)
c.5413A>C (p.Asn1805His)
c.5308A>C (p.Asn1770His)
2g.26461862G>ACA1562838OTOFc.5367C>T (p.Phe1789=)
c.3066C>T (p.Phe1022=)
c.3126C>T (p.Phe1042=)
c.3297C>T (p.Phe1099=)
c.5352C>T (p.Phe1784=)
c.5412C>T (p.Phe1804=)
c.5307C>T (p.Phe1769=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26461862G>CCA346131606OTOFc.5367C>G (p.Phe1789Leu)
c.3066C>G (p.Phe1022Leu)
c.3126C>G (p.Phe1042Leu)
c.3297C>G (p.Phe1099Leu)
c.5352C>G (p.Phe1784Leu)
c.5412C>G (p.Phe1804Leu)
c.5307C>G (p.Phe1769Leu)
2g.26461862G=CA1239825469OTOFc.5367C= (p.Phe1789=)
c.3066C= (p.Phe1022=)
c.3126C= (p.Phe1042=)
c.3297C= (p.Phe1099=)
c.5352C= (p.Phe1784=)
c.5412C= (p.Phe1804=)
c.5307C= (p.Phe1769=)
2g.26461862G>TCA346131607OTOFc.5367C>A (p.Phe1789Leu)
c.3066C>A (p.Phe1022Leu)
c.3126C>A (p.Phe1042Leu)
c.3297C>A (p.Phe1099Leu)
c.5352C>A (p.Phe1784Leu)
c.5412C>A (p.Phe1804Leu)
c.5307C>A (p.Phe1769Leu)
2g.26461863A>CCA346131609OTOFc.5366T>G (p.Phe1789Cys)
c.3065T>G (p.Phe1022Cys)
c.3125T>G (p.Phe1042Cys)
c.3296T>G (p.Phe1099Cys)
c.5351T>G (p.Phe1784Cys)
c.5411T>G (p.Phe1804Cys)
c.5306T>G (p.Phe1769Cys)
2g.26461863A>GCA346131610OTOFc.5366T>C (p.Phe1789Ser)
c.3065T>C (p.Phe1022Ser)
c.3125T>C (p.Phe1042Ser)
c.3296T>C (p.Phe1099Ser)
c.5351T>C (p.Phe1784Ser)
c.5411T>C (p.Phe1804Ser)
c.5306T>C (p.Phe1769Ser)
2g.26461863A>TCA346131612OTOFc.5366T>A (p.Phe1789Tyr)
c.3065T>A (p.Phe1022Tyr)
c.3125T>A (p.Phe1042Tyr)
c.3296T>A (p.Phe1099Tyr)
c.5351T>A (p.Phe1784Tyr)
c.5411T>A (p.Phe1804Tyr)
c.5306T>A (p.Phe1769Tyr)
2g.26461864A>CCA346131613OTOFc.5365T>G (p.Phe1789Val)
c.3064T>G (p.Phe1022Val)
c.3124T>G (p.Phe1042Val)
c.3295T>G (p.Phe1099Val)
c.5350T>G (p.Phe1784Val)
c.5410T>G (p.Phe1804Val)
c.5305T>G (p.Phe1769Val)
2g.26461864A>GCA346131615OTOFc.5365T>C (p.Phe1789Leu)
c.3064T>C (p.Phe1022Leu)
c.3124T>C (p.Phe1042Leu)
c.3295T>C (p.Phe1099Leu)
c.5350T>C (p.Phe1784Leu)
c.5410T>C (p.Phe1804Leu)
c.5305T>C (p.Phe1769Leu)
2g.26461864A>TCA346131616OTOFc.5365T>A (p.Phe1789Ile)
c.3064T>A (p.Phe1022Ile)
c.3124T>A (p.Phe1042Ile)
c.3295T>A (p.Phe1099Ile)
c.5350T>A (p.Phe1784Ile)
c.5410T>A (p.Phe1804Ile)
c.5305T>A (p.Phe1769Ile)
2g.26461865G>ACA44409203OTOFc.5364C>T (p.Asn1788=)
c.3063C>T (p.Asn1021=)
c.3123C>T (p.Asn1041=)
c.3294C>T (p.Asn1098=)
c.5349C>T (p.Asn1783=)
c.5409C>T (p.Asn1803=)
c.5304C>T (p.Asn1768=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26461865G>CCA346131619OTOFc.5364C>G (p.Asn1788Lys)
c.3063C>G (p.Asn1021Lys)
c.3123C>G (p.Asn1041Lys)
c.3294C>G (p.Asn1098Lys)
c.5349C>G (p.Asn1783Lys)
c.5409C>G (p.Asn1803Lys)
c.5304C>G (p.Asn1768Lys)
2g.26461865G=CA1239825470OTOFc.5364C= (p.Asn1788=)
c.3063C= (p.Asn1021=)
c.3123C= (p.Asn1041=)
c.3294C= (p.Asn1098=)
c.5349C= (p.Asn1783=)
c.5409C= (p.Asn1803=)
c.5304C= (p.Asn1768=)
2g.26461865G>TCA346131618OTOFc.5364C>A (p.Asn1788Lys)
c.3063C>A (p.Asn1021Lys)
c.3123C>A (p.Asn1041Lys)
c.3294C>A (p.Asn1098Lys)
c.5349C>A (p.Asn1783Lys)
c.5409C>A (p.Asn1803Lys)
c.5304C>A (p.Asn1768Lys)

Number of alleles fetched