Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154904812_154905024delCA2695238084F8c.5378_5586+4del
c.5273_5481+4del
Xg.154904839G>ACA255174F8c.5558C>T (p.Ala1853Val)
c.5453C>T (p.Ala1818Val)
 ClinVar dbSNP
Xg.154904839G>CCA414908482F8c.5558C>G (p.Ala1853Gly)
c.5453C>G (p.Ala1818Gly)
Xg.154904839G=CA2466828423F8c.5558C= (p.Ala1853=)
c.5453C= (p.Ala1818=)
Xg.154904839G>TCA414908483F8c.5558C>A (p.Ala1853Asp)
c.5453C>A (p.Ala1818Asp)
 dbSNP
Xg.154904840C>ACA414908489F8c.5557G>T (p.Ala1853Ser)
c.5452G>T (p.Ala1818Ser)
Xg.154904840C=CA2466828424F8c.5557G= (p.Ala1853=)
c.5452G= (p.Ala1818=)
Xg.154904840C>GCA414908485F8c.5557G>C (p.Ala1853Pro)
c.5452G>C (p.Ala1818Pro)
Xg.154904840C>TCA414908488F8c.5557G>A (p.Ala1853Thr)
c.5452G>A (p.Ala1818Thr)
 dbSNP
Xg.154904841T>ACA414908491F8c.5556A>T (p.Lys1852Asn)
c.5451A>T (p.Lys1817Asn)
 dbSNP
Xg.154904841T>CCA519356939F8c.5556A>G (p.Lys1852=)
c.5451A>G (p.Lys1817=)
Xg.154904841T>GCA414908493F8c.5556A>C (p.Lys1852Asn)
c.5451A>C (p.Lys1817Asn)
Xg.154904841T=CA2466828425F8c.5556A= (p.Lys1852=)
c.5451A= (p.Lys1817=)
Xg.154904842T>ACA414908495F8c.5555A>T (p.Lys1852Ile)
c.5450A>T (p.Lys1817Ile)
Xg.154904842T>CCA414908497F8c.5555A>G (p.Lys1852Arg)
c.5450A>G (p.Lys1817Arg)
Xg.154904842T>GCA414908498F8c.5555A>C (p.Lys1852Thr)
c.5450A>C (p.Lys1817Thr)
Xg.154904843T>ACA414908500F8c.5554A>T (p.Lys1852Ter)
c.5449A>T (p.Lys1817Ter)
Xg.154904843T>CCA414908502F8c.5554A>G (p.Lys1852Glu)
c.5449A>G (p.Lys1817Glu)
Xg.154904843T>GCA414908503F8c.5554A>C (p.Lys1852Gln)
c.5449A>C (p.Lys1817Gln)
Xg.154904844G>ACA519356959F8c.5553C>T (p.Cys1851=)
c.5448C>T (p.Cys1816=)
Xg.154904844G>CCA414908506F8c.5553C>G (p.Cys1851Trp)
c.5448C>G (p.Cys1816Trp)
Xg.154904844G>TCA414908508F8c.5553C>A (p.Cys1851Ter)
c.5448C>A (p.Cys1816Ter)
Xg.154904844_154904854delinsGCAGTCAAACTCA2466828426F8c.5543_5553delinsAGTTTGACTGC (p.Glu1848=)
c.5438_5448delinsAGTTTGACTGC (p.Glu1813=)
Xg.154904845C>ACA414908509F8c.5552G>T (p.Cys1851Phe)
c.5447G>T (p.Cys1816Phe)
Xg.154904845C>GCA414908511F8c.5552G>C (p.Cys1851Ser)
c.5447G>C (p.Cys1816Ser)
Xg.154904845C>TCA414908513F8c.5552G>A (p.Cys1851Tyr)
c.5447G>A (p.Cys1816Tyr)
Xg.154904847_154904856delCA2466828427F8c.5543_5552del (p.Glu1848AlafsTer20)
c.5438_5447del (p.Glu1813AlafsTer20)
 dbSNP
Xg.154904846A>CCA414908515F8c.5551T>G (p.Cys1851Gly)
c.5446T>G (p.Cys1816Gly)
Xg.154904846A>GCA414908519F8c.5551T>C (p.Cys1851Arg)
c.5446T>C (p.Cys1816Arg)
Xg.154904846A>TCA414908517F8c.5551T>A (p.Cys1851Ser)
c.5446T>A (p.Cys1816Ser)
Xg.154904847G>ACA519356966F8c.5550C>T (p.Asp1850=)
c.5445C>T (p.Asp1815=)
Xg.154904847G>CCA414908521F8c.5550C>G (p.Asp1850Glu)
c.5445C>G (p.Asp1815Glu)
 COSMIC COSMIC
Xg.154904847G>TCA414908523F8c.5550C>A (p.Asp1850Glu)
c.5445C>A (p.Asp1815Glu)
Xg.154904848T>ACA414908526F8c.5549A>T (p.Asp1850Val)
c.5444A>T (p.Asp1815Val)
Xg.154904848T>CCA414908528F8c.5549A>G (p.Asp1850Gly)
c.5444A>G (p.Asp1815Gly)
Xg.154904848T>GCA414908530F8c.5549A>C (p.Asp1850Ala)
c.5444A>C (p.Asp1815Ala)
Xg.154904849C>ACA414908532F8c.5548G>T (p.Asp1850Tyr)
c.5443G>T (p.Asp1815Tyr)
Xg.154904849C>GCA414908534F8c.5548G>C (p.Asp1850His)
c.5443G>C (p.Asp1815His)
 COSMIC COSMIC
Xg.154904849C>TCA414908536F8c.5548G>A (p.Asp1850Asn)
c.5443G>A (p.Asp1815Asn)
Xg.154904850A>CCA414908538F8c.5547T>G (p.Phe1849Leu)
c.5442T>G (p.Phe1814Leu)
Xg.154904850A>GCA519356982F8c.5547T>C (p.Phe1849=)
c.5442T>C (p.Phe1814=)
Xg.154904850A>TCA414908540F8c.5547T>A (p.Phe1849Leu)
c.5442T>A (p.Phe1814Leu)
Xg.154904851A>CCA414908544F8c.5546T>G (p.Phe1849Cys)
c.5441T>G (p.Phe1814Cys)
Xg.154904851A>GCA414908545F8c.5546T>C (p.Phe1849Ser)
c.5441T>C (p.Phe1814Ser)
 gnomAD v4
Xg.154904851A>TCA414908547F8c.5546T>A (p.Phe1849Tyr)
c.5441T>A (p.Phe1814Tyr)
Xg.154904852A>CCA414908550F8c.5545T>G (p.Phe1849Val)
c.5440T>G (p.Phe1814Val)
Xg.154904852A>GCA414908553F8c.5545T>C (p.Phe1849Leu)
c.5440T>C (p.Phe1814Leu)
Xg.154904852A>TCA414908552F8c.5545T>A (p.Phe1849Ile)
c.5440T>A (p.Phe1814Ile)
 ClinVar
Xg.154904853C>ACA414908554F8c.5544G>T (p.Glu1848Asp)
c.5439G>T (p.Glu1813Asp)
Xg.154904853C=CA2466828428F8c.5544G= (p.Glu1848=)
c.5439G= (p.Glu1813=)
Xg.154904853C>GCA414908556F8c.5544G>C (p.Glu1848Asp)
c.5439G>C (p.Glu1813Asp)
 dbSNP
Xg.154904853C>TCA519357001F8c.5544G>A (p.Glu1848=)
c.5439G>A (p.Glu1813=)
Xg.154904854T>ACA414908557F8c.5543A>T (p.Glu1848Val)
c.5438A>T (p.Glu1813Val)
Xg.154904854T>CCA414908558F8c.5543A>G (p.Glu1848Gly)
c.5438A>G (p.Glu1813Gly)
 dbSNP
Xg.154904854T>GCA414908560F8c.5543A>C (p.Glu1848Ala)
c.5438A>C (p.Glu1813Ala)
Xg.154904854T=CA2466828429F8c.5543A= (p.Glu1848=)
c.5438A= (p.Glu1813=)
Xg.154904855delCA2695238114F8c.5542del (p.Glu1848SerfsTer23)
c.5437del (p.Glu1813SerfsTer23)
Xg.154904855C>ACA414908561F8c.5542G>T (p.Glu1848Ter)
c.5437G>T (p.Glu1813Ter)
Xg.154904855C>GCA414908563F8c.5542G>C (p.Glu1848Gln)
c.5437G>C (p.Glu1813Gln)
Xg.154904855C>TCA414908565F8c.5542G>A (p.Glu1848Lys)
c.5437G>A (p.Glu1813Lys)
Xg.154904856A>CCA414908570F8c.5541T>G (p.Asp1847Glu)
c.5436T>G (p.Asp1812Glu)
Xg.154904856A>GCA519357018F8c.5541T>C (p.Asp1847=)
c.5436T>C (p.Asp1812=)
 gnomAD v4
Xg.154904856A>TCA414908571F8c.5541T>A (p.Asp1847Glu)
c.5436T>A (p.Asp1812Glu)
Xg.154904857T>ACA414908575F8c.5540A>T (p.Asp1847Val)
c.5435A>T (p.Asp1812Val)
Xg.154904857T>CCA414908580F8c.5540A>G (p.Asp1847Gly)
c.5435A>G (p.Asp1812Gly)
Xg.154904857T>GCA414908577F8c.5540A>C (p.Asp1847Ala)
c.5435A>C (p.Asp1812Ala)
Xg.154904858C>ACA414908582F8c.5539G>T (p.Asp1847Tyr)
c.5434G>T (p.Asp1812Tyr)
Xg.154904858C>GCA414908586F8c.5539G>C (p.Asp1847His)
c.5434G>C (p.Asp1812His)
Xg.154904858C>TCA414908584F8c.5539G>A (p.Asp1847Asn)
c.5434G>A (p.Asp1812Asn)
Xg.154904859T>ACA414908587F8c.5538A>T (p.Lys1846Asn)
c.5433A>T (p.Lys1811Asn)
Xg.154904859T>CCA519357034F8c.5538A>G (p.Lys1846=)
c.5433A>G (p.Lys1811=)
Xg.154904859T>GCA414908589F8c.5538A>C (p.Lys1846Asn)
c.5433A>C (p.Lys1811Asn)
 gnomAD v4
Xg.154904860T>ACA414908591F8c.5537A>T (p.Lys1846Ile)
c.5432A>T (p.Lys1811Ile)
Xg.154904860T>CCA414908593F8c.5537A>G (p.Lys1846Arg)
c.5432A>G (p.Lys1811Arg)
Xg.154904860T>GCA414908595F8c.5537A>C (p.Lys1846Thr)
c.5432A>C (p.Lys1811Thr)
Xg.154904861T>ACA337318658F8c.5536A>T (p.Lys1846Ter)
c.5431A>T (p.Lys1811Ter)
 dbSNP
Xg.154904861T>CCA414908600F8c.5536A>G (p.Lys1846Glu)
c.5431A>G (p.Lys1811Glu)
 gnomAD v4
Xg.154904861T>GCA414908601F8c.5536A>C (p.Lys1846Gln)
c.5431A>C (p.Lys1811Gln)
Xg.154904861T=CA2466828430F8c.5536A= (p.Lys1846=)
c.5431A= (p.Lys1811=)
Xg.154904862A>CCA519357043F8c.5535T>G (p.Thr1845=)
c.5430T>G (p.Thr1810=)
Xg.154904862A>GCA519357045F8c.5535T>C (p.Thr1845=)
c.5430T>C (p.Thr1810=)
Xg.154904862A>TCA519357048F8c.5535T>A (p.Thr1845=)
c.5430T>A (p.Thr1810=)
Xg.154904863G>ACA414908602F8c.5534C>T (p.Thr1845Ile)
c.5429C>T (p.Thr1810Ile)
Xg.154904863G>CCA414908603F8c.5534C>G (p.Thr1845Ser)
c.5429C>G (p.Thr1810Ser)
Xg.154904863G>TCA414908604F8c.5534C>A (p.Thr1845Asn)
c.5429C>A (p.Thr1810Asn)
Xg.154904864T>ACA414908605F8c.5533A>T (p.Thr1845Ser)
c.5428A>T (p.Thr1810Ser)
Xg.154904864T>CCA414908606F8c.5533A>G (p.Thr1845Ala)
c.5428A>G (p.Thr1810Ala)
Xg.154904864T>GCA255171F8c.5533A>C (p.Thr1845Pro)
c.5428A>C (p.Thr1810Pro)
 ClinVar dbSNP
Xg.154904864T=CA2466828431F8c.5533A= (p.Thr1845=)
c.5428A= (p.Thr1810=)
Xg.154904865G>ACA519357063F8c.5532C>T (p.Pro1844=)
c.5427C>T (p.Pro1809=)
Xg.154904865G>CCA519357066F8c.5532C>G (p.Pro1844=)
c.5427C>G (p.Pro1809=)
Xg.154904865G>TCA519357068F8c.5532C>A (p.Pro1844=)
c.5427C>A (p.Pro1809=)
Xg.154904866G>ACA414908607F8c.5531C>T (p.Pro1844Leu)
c.5426C>T (p.Pro1809Leu)
 dbSNP
Xg.154904866G>CCA414908608F8c.5531C>G (p.Pro1844Arg)
c.5426C>G (p.Pro1809Arg)
Xg.154904866G=CA2466828432F8c.5531C= (p.Pro1844=)
c.5426C= (p.Pro1809=)
Xg.154904866G>TCA414908609F8c.5531C>A (p.Pro1844His)
c.5426C>A (p.Pro1809His)
Xg.154904867G>ACA255170F8c.5530C>T (p.Pro1844Ser)
c.5425C>T (p.Pro1809Ser)
 ClinVar dbSNP
Xg.154904867G>CCA414908610F8c.5530C>G (p.Pro1844Ala)
c.5425C>G (p.Pro1809Ala)
Xg.154904867G=CA2466828433F8c.5530C= (p.Pro1844=)
c.5425C= (p.Pro1809=)
Xg.154904867G>TCA414908611F8c.5530C>A (p.Pro1844Thr)
c.5425C>A (p.Pro1809Thr)
Xg.154904868T>ACA519357081F8c.5529A>T (p.Ala1843=)
c.5424A>T (p.Ala1808=)
Xg.154904868T>CCA519357088F8c.5529A>G (p.Ala1843=)
c.5424A>G (p.Ala1808=)
Xg.154904868T>GCA519357085F8c.5529A>C (p.Ala1843=)
c.5424A>C (p.Ala1808=)
Xg.154904869G>ACA414908612F8c.5528C>T (p.Ala1843Val)
c.5423C>T (p.Ala1808Val)
Xg.154904869G>CCA414908613F8c.5528C>G (p.Ala1843Gly)
c.5423C>G (p.Ala1808Gly)
Xg.154904869G>TCA414908614F8c.5528C>A (p.Ala1843Glu)
c.5423C>A (p.Ala1808Glu)
Xg.154904870C>ACA414908616F8c.5527G>T (p.Ala1843Ser)
c.5422G>T (p.Ala1808Ser)
Xg.154904870C=CA2466828434F8c.5527G= (p.Ala1843=)
c.5422G= (p.Ala1808=)
Xg.154904870C>GCA414908617F8c.5527G>C (p.Ala1843Pro)
c.5422G>C (p.Ala1808Pro)
Xg.154904870C>TCA414908615F8c.5527G>A (p.Ala1843Thr)
c.5422G>A (p.Ala1808Thr)
 ClinVar dbSNP
Xg.154904871C>ACA414908618F8c.5526G>T (p.Met1842Ile)
c.5421G>T (p.Met1807Ile)
Xg.154904871C=CA2466828435F8c.5526G= (p.Met1842=)
c.5421G= (p.Met1807=)
Xg.154904871C>GCA414908619F8c.5526G>C (p.Met1842Ile)
c.5421G>C (p.Met1807Ile)
Xg.154904871C>TCA255169F8c.5526G>A (p.Met1842Ile)
c.5421G>A (p.Met1807Ile)
 ClinVar dbSNP
Xg.154904872A>CCA414908620F8c.5525T>G (p.Met1842Arg)
c.5420T>G (p.Met1807Arg)
Xg.154904872A>GCA414908621F8c.5525T>C (p.Met1842Thr)
c.5420T>C (p.Met1807Thr)
Xg.154904872A>TCA414908622F8c.5525T>A (p.Met1842Lys)
c.5420T>A (p.Met1807Lys)
Xg.154904873T>ACA414908623F8c.5524A>T (p.Met1842Leu)
c.5419A>T (p.Met1807Leu)
Xg.154904873T>CCA414908624F8c.5524A>G (p.Met1842Val)
c.5419A>G (p.Met1807Val)
 COSMIC COSMIC
Xg.154904873T>GCA414908625F8c.5524A>C (p.Met1842Leu)
c.5419A>C (p.Met1807Leu)
Xg.154904874A>CCA414908626F8c.5523T>G (p.His1841Gln)
c.5418T>G (p.His1806Gln)
Xg.154904874A>GCA519357116F8c.5523T>C (p.His1841=)
c.5418T>C (p.His1806=)
Xg.154904874A>TCA414908627F8c.5523T>A (p.His1841Gln)
c.5418T>A (p.His1806Gln)
Xg.154904877_154904879delCA2695238118F8c.5521_5523del (p.His1841del)
c.5416_5418del (p.His1806del)
Xg.154904875T>ACA414908629F8c.5522A>T (p.His1841Leu)
c.5417A>T (p.His1806Leu)
Xg.154904875T>CCA414908630F8c.5522A>G (p.His1841Arg)
c.5417A>G (p.His1806Arg)
Xg.154904875T>GCA414908628F8c.5522A>C (p.His1841Pro)
c.5417A>C (p.His1806Pro)
Xg.154904876G>ACA414908631F8c.5521C>T (p.His1841Tyr)
c.5416C>T (p.His1806Tyr)
Xg.154904876G>CCA414908632F8c.5521C>G (p.His1841Asp)
c.5416C>G (p.His1806Asp)
Xg.154904876G>TCA414908633F8c.5521C>A (p.His1841Asn)
c.5416C>A (p.His1806Asn)
Xg.154904876_154904889delCA1139532049F8c.5508_5521del (p.Trp1836Ter)
c.5403_5416del (p.Trp1801Ter)
Xg.154904877A>CCA414908634F8c.5520T>G (p.His1840Gln)
c.5415T>G (p.His1805Gln)
Xg.154904877A>GCA519357129F8c.5520T>C (p.His1840=)
c.5415T>C (p.His1805=)
Xg.154904877A>TCA414908635F8c.5520T>A (p.His1840Gln)
c.5415T>A (p.His1805Gln)
Xg.154904878T>ACA414908638F8c.5519A>T (p.His1840Leu)
c.5414A>T (p.His1805Leu)
Xg.154904878T>CCA414908636F8c.5519A>G (p.His1840Arg)
c.5414A>G (p.His1805Arg)
Xg.154904878T>GCA414908637F8c.5519A>C (p.His1840Pro)
c.5414A>C (p.His1805Pro)
Xg.154904879G>ACA414908639F8c.5518C>T (p.His1840Tyr)
c.5413C>T (p.His1805Tyr)
 gnomAD v4
Xg.154904879G>CCA414908640F8c.5518C>G (p.His1840Asp)
c.5413C>G (p.His1805Asp)
Xg.154904879G>TCA414908641F8c.5518C>A (p.His1840Asn)
c.5413C>A (p.His1805Asn)
Xg.154904880T>ACA414908642F8c.5517A>T (p.Gln1839His)
c.5412A>T (p.Gln1804His)
Xg.154904880T>CCA519357149F8c.5517A>G (p.Gln1839=)
c.5412A>G (p.Gln1804=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154904880T>GCA414908643F8c.5517A>C (p.Gln1839His)
c.5412A>C (p.Gln1804His)
Xg.154904880T=CA2466828436F8c.5517A= (p.Gln1839=)
c.5412A= (p.Gln1804=)
Xg.154904881T>ACA414908644F8c.5516A>T (p.Gln1839Leu)
c.5411A>T (p.Gln1804Leu)
Xg.154904881T>CCA414908646F8c.5516A>G (p.Gln1839Arg)
c.5411A>G (p.Gln1804Arg)
 COSMIC COSMIC
Xg.154904881T>GCA414908645F8c.5516A>C (p.Gln1839Pro)
c.5411A>C (p.Gln1804Pro)
Xg.154904882G>ACA414908647F8c.5515C>T (p.Gln1839Ter)
c.5410C>T (p.Gln1804Ter)
Xg.154904882G>CCA414908649F8c.5515C>G (p.Gln1839Glu)
c.5410C>G (p.Gln1804Glu)
Xg.154904882G>TCA414908648F8c.5515C>A (p.Gln1839Lys)
c.5410C>A (p.Gln1804Lys)
Xg.154904883C>ACA519357160F8c.5514G>T (p.Val1838=)
c.5409G>T (p.Val1803=)
Xg.154904883C=CA2466828437F8c.5514G= (p.Val1838=)
c.5409G= (p.Val1803=)
Xg.154904883C>GCA519357162F8c.5514G>C (p.Val1838=)
c.5409G>C (p.Val1803=)
Xg.154904883C>TCA519357164F8c.5514G>A (p.Val1838=)
c.5409G>A (p.Val1803=)
 dbSNP gnomAD v4
Xg.154904884A>CCA414908650F8c.5513T>G (p.Val1838Gly)
c.5408T>G (p.Val1803Gly)
Xg.154904884A>GCA414908652F8c.5513T>C (p.Val1838Ala)
c.5408T>C (p.Val1803Ala)
Xg.154904884A>TCA414908651F8c.5513T>A (p.Val1838Glu)
c.5408T>A (p.Val1803Glu)
Xg.154904885C>ACA414908653F8c.5512G>T (p.Val1838Leu)
c.5407G>T (p.Val1803Leu)
 gnomAD v4 COSMIC COSMIC
Xg.154904885C>GCA414908654F8c.5512G>C (p.Val1838Leu)
c.5407G>C (p.Val1803Leu)
Xg.154904885C>TCA414908655F8c.5512G>A (p.Val1838Met)
c.5407G>A (p.Val1803Met)
 gnomAD v4
Xg.154904886T>ACA414908656F8c.5511A>T (p.Lys1837Asn)
c.5406A>T (p.Lys1802Asn)
Xg.154904886T>CCA519357179F8c.5511A>G (p.Lys1837=)
c.5406A>G (p.Lys1802=)
Xg.154904886T>GCA414908657F8c.5511A>C (p.Lys1837Asn)
c.5406A>C (p.Lys1802Asn)
Xg.154904887T>ACA414908658F8c.5510A>T (p.Lys1837Ile)
c.5405A>T (p.Lys1802Ile)
Xg.154904887T>CCA414908659F8c.5510A>G (p.Lys1837Arg)
c.5405A>G (p.Lys1802Arg)
Xg.154904887T>GCA414908660F8c.5510A>C (p.Lys1837Thr)
c.5405A>C (p.Lys1802Thr)
Xg.154904888T>ACA414908661F8c.5509A>T (p.Lys1837Ter)
c.5404A>T (p.Lys1802Ter)
Xg.154904888T>CCA414908662F8c.5509A>G (p.Lys1837Glu)
c.5404A>G (p.Lys1802Glu)
Xg.154904888T>GCA414908663F8c.5509A>C (p.Lys1837Gln)
c.5404A>C (p.Lys1802Gln)
Xg.154904889C>ACA414908664F8c.5508G>T (p.Trp1836Cys)
c.5403G>T (p.Trp1801Cys)
Xg.154904889C>GCA414908666F8c.5508G>C (p.Trp1836Cys)
c.5403G>C (p.Trp1801Cys)
Xg.154904889C>TCA414908665F8c.5508G>A (p.Trp1836Ter)
c.5403G>A (p.Trp1801Ter)
Xg.154904890dupCA2695238122F8c.5508dup (p.Lys1837GlufsTer10)
c.5403dup (p.Lys1802GlufsTer10)
Xg.154904890C>ACA414908667F8c.5507G>T (p.Trp1836Leu)
c.5402G>T (p.Trp1801Leu)
Xg.154904890C=CA2466828439F8c.5507G= (p.Trp1836=)
c.5402G= (p.Trp1801=)
Xg.154904890C>GCA414908668F8c.5507G>C (p.Trp1836Ser)
c.5402G>C (p.Trp1801Ser)
Xg.154904890C>TCA414908669F8c.5507G>A (p.Trp1836Ter)
c.5402G>A (p.Trp1801Ter)
 dbSNP
Xg.154904890_154904891delinsCACA2466828438F8c.5506_5507delinsTG (p.Trp1836=)
c.5401_5402delinsTG (p.Trp1801=)
Xg.154904891A=CA2466828440F8c.5506T= (p.Trp1836=)
c.5401T= (p.Trp1801=)
Xg.154904891A>CCA414908670F8c.5506T>G (p.Trp1836Gly)
c.5401T>G (p.Trp1801Gly)
Xg.154904891A>GCA414908671F8c.5506T>C (p.Trp1836Arg)
c.5401T>C (p.Trp1801Arg)
 ClinVar dbSNP
Xg.154904891A>TCA414908672F8c.5506T>A (p.Trp1836Arg)
c.5401T>A (p.Trp1801Arg)
Xg.154904894delCA873341329F8c.5506del (p.Trp1836GlyfsTer?)
c.5401del (p.Trp1801GlyfsTer?)
 dbSNP
Xg.154904892A>CCA414908673F8c.5505T>G (p.Phe1835Leu)
c.5400T>G (p.Phe1800Leu)
Xg.154904892A>GCA519357212F8c.5505T>C (p.Phe1835=)
c.5400T>C (p.Phe1800=)
Xg.154904892A>TCA414908674F8c.5505T>A (p.Phe1835Leu)
c.5400T>A (p.Phe1800Leu)
Xg.154904893A>CCA414908676F8c.5504T>G (p.Phe1835Cys)
c.5399T>G (p.Phe1800Cys)
Xg.154904893A>GCA414908677F8c.5504T>C (p.Phe1835Ser)
c.5399T>C (p.Phe1800Ser)
 gnomAD v4
Xg.154904893A>TCA414908675F8c.5504T>A (p.Phe1835Tyr)
c.5399T>A (p.Phe1800Tyr)
Xg.154904894A>CCA414908678F8c.5503T>G (p.Phe1835Val)
c.5398T>G (p.Phe1800Val)
Xg.154904894A>GCA414908679F8c.5503T>C (p.Phe1835Leu)
c.5398T>C (p.Phe1800Leu)
Xg.154904894A>TCA414908680F8c.5503T>A (p.Phe1835Ile)
c.5398T>A (p.Phe1800Ile)
Xg.154904894_154904895delinsAGCA2466828441F8c.5502_5503delinsCT (p.Tyr1834=)
c.5397_5398delinsCT (p.Tyr1799=)
Xg.154904895delCA2466828442F8c.5502del (p.Trp1836GlyfsTer?)
c.5397del (p.Trp1801GlyfsTer?)
 dbSNP
Xg.154904895G>ACA519357228F8c.5502C>T (p.Tyr1834=)
c.5397C>T (p.Tyr1799=)
 dbSNP
Xg.154904895G>CCA414908681F8c.5502C>G (p.Tyr1834Ter)
c.5397C>G (p.Tyr1799Ter)
Xg.154904895G=CA2466828443F8c.5502C= (p.Tyr1834=)
c.5397C= (p.Tyr1799=)
Xg.154904895G>TCA414908682F8c.5502C>A (p.Tyr1834Ter)
c.5397C>A (p.Tyr1799Ter)
Xg.154904896T>ACA414908683F8c.5501A>T (p.Tyr1834Phe)
c.5396A>T (p.Tyr1799Phe)
Xg.154904896T>CCA414908684F8c.5501A>G (p.Tyr1834Cys)
c.5396A>G (p.Tyr1799Cys)
 dbSNP
Xg.154904896T>GCA414908685F8c.5501A>C (p.Tyr1834Ser)
c.5396A>C (p.Tyr1799Ser)
Xg.154904896T=CA2466828444F8c.5501A= (p.Tyr1834=)
c.5396A= (p.Tyr1799=)
Xg.154904896dupCA2573055178F8c.5501dup (p.Tyr1834Ter)
c.5396dup (p.Tyr1799Ter)
 ClinVar dbSNP
Xg.154904897A=CA2466828445F8c.5500T= (p.Tyr1834=)
c.5395T= (p.Tyr1799=)
Xg.154904897A>CCA414908686F8c.5500T>G (p.Tyr1834Asp)
c.5395T>G (p.Tyr1799Asp)
 dbSNP
Xg.154904897A>GCA414908687F8c.5500T>C (p.Tyr1834His)
c.5395T>C (p.Tyr1799His)
 gnomAD v4
Xg.154904897A>TCA414908688F8c.5500T>A (p.Tyr1834Asn)
c.5395T>A (p.Tyr1799Asn)
Xg.154904898A>CCA519357247F8c.5499T>G (p.Thr1833=)
c.5394T>G (p.Thr1798=)
Xg.154904898A>GCA519357244F8c.5499T>C (p.Thr1833=)
c.5394T>C (p.Thr1798=)
Xg.154904898A>TCA519357240F8c.5499T>A (p.Thr1833=)
c.5394T>A (p.Thr1798=)
Xg.154904899G>ACA414908691F8c.5498C>T (p.Thr1833Ile)
c.5393C>T (p.Thr1798Ile)
Xg.154904899G>CCA414908689F8c.5498C>G (p.Thr1833Ser)
c.5393C>G (p.Thr1798Ser)
Xg.154904899G>TCA414908690F8c.5498C>A (p.Thr1833Asn)
c.5393C>A (p.Thr1798Asn)
Xg.154904900T>ACA414908692F8c.5497A>T (p.Thr1833Ser)
c.5392A>T (p.Thr1798Ser)
Xg.154904900T>CCA414908693F8c.5497A>G (p.Thr1833Ala)
c.5392A>G (p.Thr1798Ala)
Xg.154904900T>GCA414908694F8c.5497A>C (p.Thr1833Pro)
c.5392A>C (p.Thr1798Pro)
Xg.154904901T>ACA414908695F8c.5496A>T (p.Lys1832Asn)
c.5391A>T (p.Lys1797Asn)
Xg.154904901T>CCA519357263F8c.5496A>G (p.Lys1832=)
c.5391A>G (p.Lys1797=)
Xg.154904901T>GCA414908696F8c.5496A>C (p.Lys1832Asn)
c.5391A>C (p.Lys1797Asn)
Xg.154904902T>ACA414908697F8c.5495A>T (p.Lys1832Ile)
c.5390A>T (p.Lys1797Ile)
Xg.154904902T>CCA414908698F8c.5495A>G (p.Lys1832Arg)
c.5390A>G (p.Lys1797Arg)
Xg.154904902T>GCA414908699F8c.5495A>C (p.Lys1832Thr)
c.5390A>C (p.Lys1797Thr)
Xg.154904903T>ACA414908700F8c.5494A>T (p.Lys1832Ter)
c.5389A>T (p.Lys1797Ter)
Xg.154904903T>CCA414908701F8c.5494A>G (p.Lys1832Glu)
c.5389A>G (p.Lys1797Glu)
Xg.154904903T>GCA414908702F8c.5494A>C (p.Lys1832Gln)
c.5389A>C (p.Lys1797Gln)
Xg.154904904G>ACA519357273F8c.5493C>T (p.Thr1831=)
c.5388C>T (p.Thr1796=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904904G>CCA519357276F8c.5493C>G (p.Thr1831=)
c.5388C>G (p.Thr1796=)
 ClinVar dbSNP
Xg.154904904G=CA2466828446F8c.5493C= (p.Thr1831=)
c.5388C= (p.Thr1796=)
Xg.154904904G>TCA519357277F8c.5493C>A (p.Thr1831=)
c.5388C>A (p.Thr1796=)
 gnomAD v4
Xg.154904905G>ACA414908705F8c.5492C>T (p.Thr1831Ile)
c.5387C>T (p.Thr1796Ile)
Xg.154904905G>CCA414908704F8c.5492C>G (p.Thr1831Ser)
c.5387C>G (p.Thr1796Ser)
Xg.154904905G>TCA414908703F8c.5492C>A (p.Thr1831Asn)
c.5387C>A (p.Thr1796Asn)
Xg.154904906T>ACA414908706F8c.5491A>T (p.Thr1831Ser)
c.5386A>T (p.Thr1796Ser)
Xg.154904906T>CCA414908707F8c.5491A>G (p.Thr1831Ala)
c.5386A>G (p.Thr1796Ala)
Xg.154904906T>GCA414908708F8c.5491A>C (p.Thr1831Pro)
c.5386A>C (p.Thr1796Pro)
Xg.154904907T>ACA414908709F8c.5490A>T (p.Glu1830Asp)
c.5385A>T (p.Glu1795Asp)
Xg.154904907T>CCA10567966F8c.5490A>G (p.Glu1830=)
c.5385A>G (p.Glu1795=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904907T>GCA414908710F8c.5490A>C (p.Glu1830Asp)
c.5385A>C (p.Glu1795Asp)
Xg.154904907T=CA2466828447F8c.5490A= (p.Glu1830=)
c.5385A= (p.Glu1795=)
Xg.154904908T>ACA414908713F8c.5489A>T (p.Glu1830Val)
c.5384A>T (p.Glu1795Val)
Xg.154904908T>CCA414908711F8c.5489A>G (p.Glu1830Gly)
c.5384A>G (p.Glu1795Gly)
Xg.154904908T>GCA414908712F8c.5489A>C (p.Glu1830Ala)
c.5384A>C (p.Glu1795Ala)
Xg.154904909C>ACA414908714F8c.5488G>T (p.Glu1830Ter)
c.5383G>T (p.Glu1795Ter)
 ClinVar
Xg.154904909C>GCA414908715F8c.5488G>C (p.Glu1830Gln)
c.5383G>C (p.Glu1795Gln)
 gnomAD v4
Xg.154904909C>TCA414908716F8c.5488G>A (p.Glu1830Lys)
c.5383G>A (p.Glu1795Lys)
 COSMIC COSMIC
Xg.154904910A=CA2466828448F8c.5487T= (p.Asn1829=)
c.5382T= (p.Asn1794=)
Xg.154904910A>CCA10567967F8c.5487T>G (p.Asn1829Lys)
c.5382T>G (p.Asn1794Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904910A>GCA519357302F8c.5487T>C (p.Asn1829=)
c.5382T>C (p.Asn1794=)
 gnomAD v4
Xg.154904910A>TCA414908717F8c.5487T>A (p.Asn1829Lys)
c.5382T>A (p.Asn1794Lys)
Xg.154904911T>ACA414908718F8c.5486A>T (p.Asn1829Ile)
c.5381A>T (p.Asn1794Ile)
Xg.154904911T>CCA414908720F8c.5486A>G (p.Asn1829Ser)
c.5381A>G (p.Asn1794Ser)
Xg.154904911T>GCA414908719F8c.5486A>C (p.Asn1829Thr)
c.5381A>C (p.Asn1794Thr)
Xg.154904912delCA2695238128F8c.5486del (p.Asn1829MetfsTer?)
c.5381del (p.Asn1794MetfsTer?)
Xg.154904912T>ACA414908721F8c.5485A>T (p.Asn1829Tyr)
c.5380A>T (p.Asn1794Tyr)
Xg.154904912T>CCA414908722F8c.5485A>G (p.Asn1829Asp)
c.5380A>G (p.Asn1794Asp)
 gnomAD v4
Xg.154904912T>GCA414908723F8c.5485A>C (p.Asn1829His)
c.5380A>C (p.Asn1794His)
Xg.154904913A>CCA519357312F8c.5484T>G (p.Pro1828=)
c.5379T>G (p.Pro1793=)
Xg.154904913A>GCA519357314F8c.5484T>C (p.Pro1828=)
c.5379T>C (p.Pro1793=)
Xg.154904913A>TCA519357320F8c.5484T>A (p.Pro1828=)
c.5379T>A (p.Pro1793=)
Xg.154904913_154904914delinsAGCA2466828449F8c.5483_5484delinsCT (p.Pro1828=)
c.5378_5379delinsCT (p.Pro1793=)
Xg.154904914G>ACA414908724F8c.5483C>T (p.Pro1828Leu)
c.5378C>T (p.Pro1793Leu)
Xg.154904914G>CCA414908725F8c.5483C>G (p.Pro1828Arg)
c.5378C>G (p.Pro1793Arg)
Xg.154904914G>TCA414908726F8c.5483C>A (p.Pro1828His)
c.5378C>A (p.Pro1793His)
Xg.154904915delCA1139667916F8c.5483del (p.Pro1828LeufsTer?)
c.5378del (p.Pro1793LeufsTer?)
 ClinVar dbSNP
Xg.154904915G>ACA414908727F8c.5482C>T (p.Pro1828Ser)
c.5377C>T (p.Pro1793Ser)
Xg.154904915G>CCA414908728F8c.5482C>G (p.Pro1828Ala)
c.5377C>G (p.Pro1793Ala)
Xg.154904915G>TCA414908729F8c.5482C>A (p.Pro1828Thr)
c.5377C>A (p.Pro1793Thr)
 gnomAD v4
Xg.154904916C>ACA414908730F8c.5481G>T (p.Lys1827Asn)
c.5376G>T (p.Lys1792Asn)
Xg.154904916C>GCA414908731F8c.5481G>C (p.Lys1827Asn)
c.5376G>C (p.Lys1792Asn)
Xg.154904916C>TCA519357337F8c.5481G>A (p.Lys1827=)
c.5376G>A (p.Lys1792=)
Xg.154904917T>ACA414908732F8c.5480A>T (p.Lys1827Met)
c.5375A>T (p.Lys1792Met)
Xg.154904917T>CCA414908734F8c.5480A>G (p.Lys1827Arg)
c.5375A>G (p.Lys1792Arg)
Xg.154904917T>GCA414908733F8c.5480A>C (p.Lys1827Thr)
c.5375A>C (p.Lys1792Thr)
Xg.154904918delCA2695238130F8c.5480del (p.Lys1827SerfsTer?)
c.5375del (p.Lys1792SerfsTer?)
Xg.154904918T>ACA255172F8c.5479A>T (p.Lys1827Ter)
c.5374A>T (p.Lys1792Ter)
 ClinVar dbSNP
Xg.154904918T>CCA414908735F8c.5479A>G (p.Lys1827Glu)
c.5374A>G (p.Lys1792Glu)
Xg.154904918T>GCA414908736F8c.5479A>C (p.Lys1827Gln)
c.5374A>C (p.Lys1792Gln)
Xg.154904918T=CA2466828450F8c.5479A= (p.Lys1827=)
c.5374A= (p.Lys1792=)
Xg.154904919G>ACA519357355F8c.5478C>T (p.Val1826=)
c.5373C>T (p.Val1791=)
Xg.154904919G>CCA519357353F8c.5478C>G (p.Val1826=)
c.5373C>G (p.Val1791=)
Xg.154904919G>TCA519357350F8c.5478C>A (p.Val1826=)
c.5373C>A (p.Val1791=)
 gnomAD v4
Xg.154904920_154904925delCA2695238132F8c.5473_5478del (p.Phe1825_Val1826del)
c.5368_5373del (p.Phe1790_Val1791del)
Xg.154904920A>CCA414908737F8c.5477T>G (p.Val1826Gly)
c.5372T>G (p.Val1791Gly)
Xg.154904920A>GCA414908738F8c.5477T>C (p.Val1826Ala)
c.5372T>C (p.Val1791Ala)
Xg.154904920A>TCA414908739F8c.5477T>A (p.Val1826Asp)
c.5372T>A (p.Val1791Asp)
Xg.154904921C>ACA414908740F8c.5476G>T (p.Val1826Phe)
c.5371G>T (p.Val1791Phe)
 dbSNP
Xg.154904921C=CA2466828451F8c.5476G= (p.Val1826=)
c.5371G= (p.Val1791=)
Xg.154904921C>GCA414908741F8c.5476G>C (p.Val1826Leu)
c.5371G>C (p.Val1791Leu)
Xg.154904921C>TCA414908742F8c.5476G>A (p.Val1826Ile)
c.5371G>A (p.Val1791Ile)
Xg.154904922A=CA2466828452F8c.5475T= (p.Phe1825=)
c.5370T= (p.Phe1790=)
Xg.154904922A>CCA414908743F8c.5475T>G (p.Phe1825Leu)
c.5370T>G (p.Phe1790Leu)
Xg.154904922A>GCA519357372F8c.5475T>C (p.Phe1825=)
c.5370T>C (p.Phe1790=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904922A>TCA414908744F8c.5475T>A (p.Phe1825Leu)
c.5370T>A (p.Phe1790Leu)
Xg.154904924dupCA2695238134F8c.5475dup (p.Val1826CysfsTer4)
c.5370dup (p.Val1791CysfsTer4)
Xg.154904923_154904924delCA2695238133F8c.5474_5475del (p.Phe1825CysfsTer4)
c.5369_5370del (p.Phe1790CysfsTer4)
Xg.154904923A>CCA414908747F8c.5474T>G (p.Phe1825Cys)
c.5369T>G (p.Phe1790Cys)
 COSMIC COSMIC
Xg.154904923A>GCA414908745F8c.5474T>C (p.Phe1825Ser)
c.5369T>C (p.Phe1790Ser)
Xg.154904923A>TCA414908746F8c.5474T>A (p.Phe1825Tyr)
c.5369T>A (p.Phe1790Tyr)
Xg.154904924A>CCA414908748F8c.5473T>G (p.Phe1825Val)
c.5368T>G (p.Phe1790Val)
 gnomAD v4
Xg.154904924A>GCA414908749F8c.5473T>C (p.Phe1825Leu)
c.5368T>C (p.Phe1790Leu)
Xg.154904924A>TCA414908750F8c.5473T>A (p.Phe1825Ile)
c.5368T>A (p.Phe1790Ile)
Xg.154904925G>ACA519357387F8c.5472C>T (p.Asn1824=)
c.5367C>T (p.Asn1789=)
 gnomAD v4
Xg.154904925G>CCA414908751F8c.5472C>G (p.Asn1824Lys)
c.5367C>G (p.Asn1789Lys)
Xg.154904925G=CA2466828453F8c.5472C= (p.Asn1824=)
c.5367C= (p.Asn1789=)
Xg.154904925G>TCA414908752F8c.5472C>A (p.Asn1824Lys)
c.5367C>A (p.Asn1789Lys)
Xg.154904926T>ACA414908753F8c.5471A>T (p.Asn1824Ile)
c.5366A>T (p.Asn1789Ile)
 COSMIC COSMIC
Xg.154904926T>CCA414908754F8c.5471A>G (p.Asn1824Ser)
c.5366A>G (p.Asn1789Ser)
Xg.154904926T>GCA10567968F8c.5471A>C (p.Asn1824Thr)
c.5366A>C (p.Asn1789Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904926T=CA2466828454F8c.5471A= (p.Asn1824=)
c.5366A= (p.Asn1789=)
Xg.154904931dupCA645614554F8c.5471dup (p.Asn1824LysfsTer6)
c.5366dup (p.Asn1789LysfsTer6)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.154904931delCA2695238135F8c.5471del (p.Asn1824ThrfsTer?)
c.5366del (p.Asn1789ThrfsTer?)
Xg.154904927T>ACA414908755F8c.5470A>T (p.Asn1824Tyr)
c.5365A>T (p.Asn1789Tyr)
Xg.154904927T>CCA414908756F8c.5470A>G (p.Asn1824Asp)
c.5365A>G (p.Asn1789Asp)
Xg.154904927T>GCA414908757F8c.5470A>C (p.Asn1824His)
c.5365A>C (p.Asn1789His)
 dbSNP gnomAD v4
Xg.154904927T=CA2466828455F8c.5470A= (p.Asn1824=)
c.5365A= (p.Asn1789=)
Xg.154904928T>ACA414908759F8c.5469A>T (p.Lys1823Asn)
c.5364A>T (p.Lys1788Asn)
Xg.154904928T>CCA519357403F8c.5469A>G (p.Lys1823=)
c.5364A>G (p.Lys1788=)
Xg.154904928T>GCA414908758F8c.5469A>C (p.Lys1823Asn)
c.5364A>C (p.Lys1788Asn)
Xg.154904929T>ACA414908760F8c.5468A>T (p.Lys1823Ile)
c.5363A>T (p.Lys1788Ile)
Xg.154904929T>CCA414908762F8c.5468A>G (p.Lys1823Arg)
c.5363A>G (p.Lys1788Arg)
Xg.154904929T>GCA414908761F8c.5468A>C (p.Lys1823Thr)
c.5363A>C (p.Lys1788Thr)
Xg.154904930T>ACA414908763F8c.5467A>T (p.Lys1823Ter)
c.5362A>T (p.Lys1788Ter)
Xg.154904930T>CCA10567969F8c.5467A>G (p.Lys1823Glu)
c.5362A>G (p.Lys1788Glu)
 dbSNP ExAC gnomAD v4
Xg.154904930T>GCA414908764F8c.5467A>C (p.Lys1823Gln)
c.5362A>C (p.Lys1788Gln)
Xg.154904930T=CA2466828456F8c.5467A= (p.Lys1823=)
c.5362A= (p.Lys1788=)
Xg.154904931T>ACA414908765F8c.5466A>T (p.Arg1822Ser)
c.5361A>T (p.Arg1787Ser)
Xg.154904931T>CCA519357417F8c.5466A>G (p.Arg1822=)
c.5361A>G (p.Arg1787=)
 dbSNP gnomAD v4
Xg.154904931T>GCA414908766F8c.5466A>C (p.Arg1822Ser)
c.5361A>C (p.Arg1787Ser)
Xg.154904931T=CA2466828457F8c.5466A= (p.Arg1822=)
c.5361A= (p.Arg1787=)
Xg.154904932C>ACA414908767F8c.5465G>T (p.Arg1822Ile)
c.5360G>T (p.Arg1787Ile)
Xg.154904932C>GCA414908768F8c.5465G>C (p.Arg1822Thr)
c.5360G>C (p.Arg1787Thr)
Xg.154904932C>TCA414908769F8c.5465G>A (p.Arg1822Lys)
c.5360G>A (p.Arg1787Lys)
Xg.154904932_154904933insACA519357427F8c.5464_5465insT (p.Arg1822MetfsTer8)
c.5359_5360insT (p.Arg1787MetfsTer8)
Xg.154904933delCA2695238138F8c.5464del (p.Arg1822GlufsTer?)
c.5359del (p.Arg1787GlufsTer?)
Xg.154904933T>ACA414908770F8c.5464A>T (p.Arg1822Ter)
c.5359A>T (p.Arg1787Ter)
Xg.154904933T>CCA414908771F8c.5464A>G (p.Arg1822Gly)
c.5359A>G (p.Arg1787Gly)
Xg.154904933T>GCA519357433F8c.5464A>C (p.Arg1822=)
c.5359A>C (p.Arg1787=)
Xg.154904934A=CA2466828458F8c.5463T= (p.Pro1821=)
c.5358T= (p.Pro1786=)
Xg.154904934A>CCA519357444F8c.5463T>G (p.Pro1821=)
c.5358T>G (p.Pro1786=)
Xg.154904934A>GCA519357441F8c.5463T>C (p.Pro1821=)
c.5358T>C (p.Pro1786=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904934A>TCA519357438F8c.5463T>A (p.Pro1821=)
c.5358T>A (p.Pro1786=)
Xg.154904935G>ACA10567970F8c.5462C>T (p.Pro1821Leu)
c.5357C>T (p.Pro1786Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904935G>CCA414908772F8c.5462C>G (p.Pro1821Arg)
c.5357C>G (p.Pro1786Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904935G=CA2466828459F8c.5462C= (p.Pro1821=)
c.5357C= (p.Pro1786=)
Xg.154904935G>TCA414908773F8c.5462C>A (p.Pro1821His)
c.5357C>A (p.Pro1786His)
Xg.154904936G>ACA414908774F8c.5461C>T (p.Pro1821Ser)
c.5356C>T (p.Pro1786Ser)
Xg.154904936G>CCA414908775F8c.5461C>G (p.Pro1821Ala)
c.5356C>G (p.Pro1786Ala)
Xg.154904936G>TCA414908776F8c.5461C>A (p.Pro1821Thr)
c.5356C>A (p.Pro1786Thr)
 gnomAD v4 COSMIC COSMIC
Xg.154904937T>ACA414908777F8c.5460A>T (p.Glu1820Asp)
c.5355A>T (p.Glu1785Asp)
Xg.154904937T>CCA519357454F8c.5460A>G (p.Glu1820=)
c.5355A>G (p.Glu1785=)
Xg.154904937T>GCA414908778F8c.5460A>C (p.Glu1820Asp)
c.5355A>C (p.Glu1785Asp)
Xg.154904938delCA2695238139F8c.5460del (p.Glu1820AspfsTer?)
c.5355del (p.Glu1785AspfsTer?)
Xg.154904938T>ACA414908779F8c.5459A>T (p.Glu1820Val)
c.5354A>T (p.Glu1785Val)
Xg.154904938T>CCA414908781F8c.5459A>G (p.Glu1820Gly)
c.5354A>G (p.Glu1785Gly)
Xg.154904938T>GCA414908780F8c.5459A>C (p.Glu1820Ala)
c.5354A>C (p.Glu1785Ala)
Xg.154904939C>ACA414908782F8c.5458G>T (p.Glu1820Ter)
c.5353G>T (p.Glu1785Ter)
Xg.154904939C>GCA414908783F8c.5458G>C (p.Glu1820Gln)
c.5353G>C (p.Glu1785Gln)
Xg.154904939C>TCA414908784F8c.5458G>A (p.Glu1820Lys)
c.5353G>A (p.Glu1785Lys)

Number of alleles fetched