Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806968G>ACA384886665SCN8Ac.5482G>A (p.Glu1828Lys)
c.3546G>A
c.5359G>A (p.Glu1787Lys)
c.5515G>A (p.Glu1839Lys)
12g.51806968G>CCA384886669SCN8Ac.5482G>C (p.Glu1828Gln)
c.3546G>C
c.5359G>C (p.Glu1787Gln)
c.5515G>C (p.Glu1839Gln)
 gnomAD v4
12g.51806968G=CA2036194181SCN8Ac.5482G= (p.Glu1828=)
c.3546G=
c.5359G= (p.Glu1787=)
c.5515G= (p.Glu1839=)
12g.51806968G>TCA384886672SCN8Ac.5482G>T (p.Glu1828Ter)
c.3546G>T
c.5359G>T (p.Glu1787Ter)
c.5515G>T (p.Glu1839Ter)
 dbSNP
12g.51806969A>CCA384886690SCN8Ac.5483A>C (p.Glu1828Ala)
c.3547A>C
c.5360A>C (p.Glu1787Ala)
c.5516A>C (p.Glu1839Ala)
12g.51806969A>GCA384886691SCN8Ac.5483A>G (p.Glu1828Gly)
c.3547A>G
c.5360A>G (p.Glu1787Gly)
c.5516A>G (p.Glu1839Gly)
12g.51806969A>TCA384886696SCN8Ac.5483A>T (p.Glu1828Val)
c.3547A>T
c.5360A>T (p.Glu1787Val)
c.5516A>T (p.Glu1839Val)
12g.51806970G>ACA480061866SCN8Ac.5484G>A (p.Glu1828=)
c.3548G>A
c.5361G>A (p.Glu1787=)
c.5517G>A (p.Glu1839=)
 gnomAD v4
12g.51806970G>CCA384886702SCN8Ac.5484G>C (p.Glu1828Asp)
c.3548G>C
c.5361G>C (p.Glu1787Asp)
c.5517G>C (p.Glu1839Asp)
12g.51806970G>TCA384886714SCN8Ac.5484G>T (p.Glu1828Asp)
c.3548G>T
c.5361G>T (p.Glu1787Asp)
c.5517G>T (p.Glu1839Asp)
 gnomAD v4
12g.51806971C>ACA384886726SCN8Ac.5485C>A (p.Leu1829Ile)
c.3549C>A
c.5362C>A (p.Leu1788Ile)
c.5518C>A (p.Leu1840Ile)
12g.51806971C=CA2036194183SCN8Ac.5485C= (p.Leu1829=)
c.3549C=
c.5362C= (p.Leu1788=)
c.5518C= (p.Leu1840=)
12g.51806971C>GCA384886745SCN8Ac.5485C>G (p.Leu1829Val)
c.3549C>G
c.5362C>G (p.Leu1788Val)
c.5518C>G (p.Leu1840Val)
12g.51806971C>TCA6571923SCN8Ac.5485C>T (p.Leu1829Phe)
c.3549C>T
c.5362C>T (p.Leu1788Phe)
c.5518C>T (p.Leu1840Phe)
 dbSNP ExAC
12g.51806972T>ACA384886786SCN8Ac.5486T>A (p.Leu1829His)
c.3550T>A
c.5363T>A (p.Leu1788His)
c.5519T>A (p.Leu1840His)
12g.51806972T>CCA384886761SCN8Ac.5486T>C (p.Leu1829Pro)
c.3550T>C
c.5363T>C (p.Leu1788Pro)
c.5519T>C (p.Leu1840Pro)
12g.51806972T>GCA384886780SCN8Ac.5486T>G (p.Leu1829Arg)
c.3550T>G
c.5363T>G (p.Leu1788Arg)
c.5519T>G (p.Leu1840Arg)
12g.51806973C>ACA480061869SCN8Ac.5487C>A (p.Leu1829=)
c.3551C>A
c.5364C>A (p.Leu1788=)
c.5520C>A (p.Leu1840=)
12g.51806973C=CA2036194186SCN8Ac.5487C= (p.Leu1829=)
c.3551C=
c.5364C= (p.Leu1788=)
c.5520C= (p.Leu1840=)
12g.51806973C>GCA480061870SCN8Ac.5487C>G (p.Leu1829=)
c.3551C>G
c.5364C>G (p.Leu1788=)
c.5520C>G (p.Leu1840=)
 dbSNP
12g.51806973C>TCA480061873SCN8Ac.5487C>T (p.Leu1829=)
c.3551C>T
c.5364C>T (p.Leu1788=)
c.5520C>T (p.Leu1840=)
 dbSNP COSMIC COSMIC
12g.51806974A>CCA384886801SCN8Ac.5488A>C (p.Ile1830Leu)
c.3552A>C
c.5365A>C (p.Ile1789Leu)
c.5521A>C (p.Ile1841Leu)
12g.51806974A>GCA384886804SCN8Ac.5488A>G (p.Ile1830Val)
c.3552A>G
c.5365A>G (p.Ile1789Val)
c.5521A>G (p.Ile1841Val)
12g.51806974A>TCA384886815SCN8Ac.5488A>T (p.Ile1830Phe)
c.3552A>T
c.5365A>T (p.Ile1789Phe)
c.5521A>T (p.Ile1841Phe)
 gnomAD v4
12g.51806975T>ACA384886818SCN8Ac.5489T>A (p.Ile1830Asn)
c.3553T>A
c.5366T>A (p.Ile1789Asn)
c.5522T>A (p.Ile1841Asn)
12g.51806975T>CCA384886819SCN8Ac.5489T>C (p.Ile1830Thr)
c.3553T>C
c.5366T>C (p.Ile1789Thr)
c.5522T>C (p.Ile1841Thr)
12g.51806975T>GCA384886820SCN8Ac.5489T>G (p.Ile1830Ser)
c.3553T>G
c.5366T>G (p.Ile1789Ser)
c.5522T>G (p.Ile1841Ser)
12g.51806976C>ACA480061875SCN8Ac.5490C>A (p.Ile1830=)
c.3554C>A
c.5367C>A (p.Ile1789=)
c.5523C>A (p.Ile1841=)
12g.51806976C=CA2036194189SCN8Ac.5490C= (p.Ile1830=)
c.3554C=
c.5367C= (p.Ile1789=)
c.5523C= (p.Ile1841=)
12g.51806976C>GCA384886824SCN8Ac.5490C>G (p.Ile1830Met)
c.3554C>G
c.5367C>G (p.Ile1789Met)
c.5523C>G (p.Ile1841Met)
12g.51806976C>TCA6571924SCN8Ac.5490C>T (p.Ile1830=)
c.3554C>T
c.5367C>T (p.Ile1789=)
c.5523C>T (p.Ile1841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806977G>ACA6571925SCN8Ac.5491G>A (p.Ala1831Thr)
c.3555G>A
c.5368G>A (p.Ala1790Thr)
c.5524G>A (p.Ala1842Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806977G>CCA384886847SCN8Ac.5491G>C (p.Ala1831Pro)
c.3555G>C
c.5368G>C (p.Ala1790Pro)
c.5524G>C (p.Ala1842Pro)
12g.51806977G=CA2036194203SCN8Ac.5491G= (p.Ala1831=)
c.3555G=
c.5368G= (p.Ala1790=)
c.5524G= (p.Ala1842=)
12g.51806977G>TCA384886850SCN8Ac.5491G>T (p.Ala1831Ser)
c.3555G>T
c.5368G>T (p.Ala1790Ser)
c.5524G>T (p.Ala1842Ser)
12g.51806978C>ACA384886852SCN8Ac.5492C>A (p.Ala1831Asp)
c.3556C>A
c.5369C>A (p.Ala1790Asp)
c.5525C>A (p.Ala1842Asp)
12g.51806978C>GCA384886860SCN8Ac.5492C>G (p.Ala1831Gly)
c.3556C>G
c.5369C>G (p.Ala1790Gly)
c.5525C>G (p.Ala1842Gly)
 gnomAD v4
12g.51806978C>TCA384886856SCN8Ac.5492C>T (p.Ala1831Val)
c.3556C>T
c.5369C>T (p.Ala1790Val)
c.5525C>T (p.Ala1842Val)
12g.51806979T>ACA480061882SCN8Ac.5493T>A (p.Ala1831=)
c.3557T>A
c.5370T>A (p.Ala1790=)
c.5526T>A (p.Ala1842=)
12g.51806979T>CCA480061883SCN8Ac.5493T>C (p.Ala1831=)
c.3557T>C
c.5370T>C (p.Ala1790=)
c.5526T>C (p.Ala1842=)
12g.51806979T>GCA480061884SCN8Ac.5493T>G (p.Ala1831=)
c.3557T>G
c.5370T>G (p.Ala1790=)
c.5526T>G (p.Ala1842=)
12g.51806980A>CCA384886865SCN8Ac.5494A>C (p.Met1832Leu)
c.3558A>C
c.5371A>C (p.Met1791Leu)
c.5527A>C (p.Met1843Leu)
12g.51806980A>GCA384886876SCN8Ac.5494A>G (p.Met1832Val)
c.3558A>G
c.5371A>G (p.Met1791Val)
c.5527A>G (p.Met1843Val)
12g.51806980A>TCA384886873SCN8Ac.5494A>T (p.Met1832Leu)
c.3558A>T
c.5371A>T (p.Met1791Leu)
c.5527A>T (p.Met1843Leu)
12g.51806981T>ACA384886877SCN8Ac.5495T>A (p.Met1832Lys)
c.3559T>A
c.5372T>A (p.Met1791Lys)
c.5528T>A (p.Met1843Lys)
12g.51806981T>CCA384886880SCN8Ac.5495T>C (p.Met1832Thr)
c.3559T>C
c.5372T>C (p.Met1791Thr)
c.5528T>C (p.Met1843Thr)
12g.51806981T>GCA384886882SCN8Ac.5495T>G (p.Met1832Arg)
c.3559T>G
c.5372T>G (p.Met1791Arg)
c.5528T>G (p.Met1843Arg)
12g.51806982G>ACA384886885SCN8Ac.5496G>A (p.Met1832Ile)
c.3560G>A
c.5373G>A (p.Met1791Ile)
c.5529G>A (p.Met1843Ile)
 COSMIC COSMIC
12g.51806982G>CCA384886887SCN8Ac.5496G>C (p.Met1832Ile)
c.3560G>C
c.5373G>C (p.Met1791Ile)
c.5529G>C (p.Met1843Ile)
12g.51806982G>TCA384886890SCN8Ac.5496G>T (p.Met1832Ile)
c.3560G>T
c.5373G>T (p.Met1791Ile)
c.5529G>T (p.Met1843Ile)
12g.51806983G>ACA384886910SCN8Ac.5497G>A (p.Asp1833Asn)
c.3561G>A
c.5374G>A (p.Asp1792Asn)
c.5530G>A (p.Asp1844Asn)
12g.51806983G>CCA384886914SCN8Ac.5497G>C (p.Asp1833His)
c.3561G>C
c.5374G>C (p.Asp1792His)
c.5530G>C (p.Asp1844His)
12g.51806983G>TCA384886918SCN8Ac.5497G>T (p.Asp1833Tyr)
c.3561G>T
c.5374G>T (p.Asp1792Tyr)
c.5530G>T (p.Asp1844Tyr)
12g.51806984A>CCA384886921SCN8Ac.5498A>C (p.Asp1833Ala)
c.3562A>C
c.5375A>C (p.Asp1792Ala)
c.5531A>C (p.Asp1844Ala)
12g.51806984A>GCA384886922SCN8Ac.5498A>G (p.Asp1833Gly)
c.3562A>G
c.5375A>G (p.Asp1792Gly)
c.5531A>G (p.Asp1844Gly)
 ClinVar
12g.51806984A>TCA384886923SCN8Ac.5498A>T (p.Asp1833Val)
c.3562A>T
c.5375A>T (p.Asp1792Val)
c.5531A>T (p.Asp1844Val)
12g.51806985T>ACA384886937SCN8Ac.5499T>A (p.Asp1833Glu)
c.3563T>A
c.5376T>A (p.Asp1792Glu)
c.5532T>A (p.Asp1844Glu)
 ClinVar dbSNP
12g.51806985T>CCA480061890SCN8Ac.5499T>C (p.Asp1833=)
c.3563T>C
c.5376T>C (p.Asp1792=)
c.5532T>C (p.Asp1844=)
 dbSNP gnomAD v2 gnomAD v4
12g.51806985T>GCA384886933SCN8Ac.5499T>G (p.Asp1833Glu)
c.3563T>G
c.5376T>G (p.Asp1792Glu)
c.5532T>G (p.Asp1844Glu)
12g.51806985T=CA2036194213SCN8Ac.5499T= (p.Asp1833=)
c.3563T=
c.5376T= (p.Asp1792=)
c.5532T= (p.Asp1844=)
12g.51806986C>ACA384886941SCN8Ac.5500C>A (p.Leu1834Met)
c.3564C>A
c.5377C>A (p.Leu1793Met)
c.5533C>A (p.Leu1845Met)
12g.51806986C>GCA384886945SCN8Ac.5500C>G (p.Leu1834Val)
c.3564C>G
c.5377C>G (p.Leu1793Val)
c.5533C>G (p.Leu1845Val)
12g.51806986C>TCA480061892SCN8Ac.5500C>T (p.Leu1834=)
c.3564C>T
c.5377C>T (p.Leu1793=)
c.5533C>T (p.Leu1845=)
 gnomAD v4
12g.51806987T>ACA384886949SCN8Ac.5501T>A (p.Leu1834Gln)
c.3565T>A
c.5378T>A (p.Leu1793Gln)
c.5534T>A (p.Leu1845Gln)
12g.51806987T>CCA384886953SCN8Ac.5501T>C (p.Leu1834Pro)
c.3565T>C
c.5378T>C (p.Leu1793Pro)
c.5534T>C (p.Leu1845Pro)
12g.51806987T>GCA384886959SCN8Ac.5501T>G (p.Leu1834Arg)
c.3565T>G
c.5378T>G (p.Leu1793Arg)
c.5534T>G (p.Leu1845Arg)
12g.51806988G>ACA480061895SCN8Ac.5502G>A (p.Leu1834=)
c.3566G>A
c.5379G>A (p.Leu1793=)
c.5535G>A (p.Leu1845=)
12g.51806988G>CCA480061896SCN8Ac.5502G>C (p.Leu1834=)
c.3566G>C
c.5379G>C (p.Leu1793=)
c.5535G>C (p.Leu1845=)
12g.51806988G>TCA480061898SCN8Ac.5502G>T (p.Leu1834=)
c.3566G>T
c.5379G>T (p.Leu1793=)
c.5535G>T (p.Leu1845=)
12g.51806989C>ACA384886984SCN8Ac.5503C>A (p.Pro1835Thr)
c.3567C>A
c.5380C>A (p.Pro1794Thr)
c.5536C>A (p.Pro1846Thr)
12g.51806989C>GCA384886973SCN8Ac.5503C>G (p.Pro1835Ala)
c.3567C>G
c.5380C>G (p.Pro1794Ala)
c.5536C>G (p.Pro1846Ala)
12g.51806989C>TCA384886969SCN8Ac.5503C>T (p.Pro1835Ser)
c.3567C>T
c.5380C>T (p.Pro1794Ser)
c.5536C>T (p.Pro1846Ser)
12g.51806990C>ACA384886989SCN8Ac.5504C>A (p.Pro1835Gln)
c.3568C>A
c.5381C>A (p.Pro1794Gln)
c.5537C>A (p.Pro1846Gln)
12g.51806990C>GCA384886990SCN8Ac.5504C>G (p.Pro1835Arg)
c.3568C>G
c.5381C>G (p.Pro1794Arg)
c.5537C>G (p.Pro1846Arg)
12g.51806990C>TCA384886991SCN8Ac.5504C>T (p.Pro1835Leu)
c.3568C>T
c.5381C>T (p.Pro1794Leu)
c.5537C>T (p.Pro1846Leu)
12g.51806991A=CA2036194217SCN8Ac.5505A= (p.Pro1835=)
c.3569A=
c.5382A= (p.Pro1794=)
c.5538A= (p.Pro1846=)
12g.51806991A>CCA480061901SCN8Ac.5505A>C (p.Pro1835=)
c.3569A>C
c.5382A>C (p.Pro1794=)
c.5538A>C (p.Pro1846=)
 gnomAD v4
12g.51806991A>GCA480061902SCN8Ac.5505A>G (p.Pro1835=)
c.3569A>G
c.5382A>G (p.Pro1794=)
c.5538A>G (p.Pro1846=)
 dbSNP gnomAD v4 COSMIC
12g.51806991A>TCA480061903SCN8Ac.5505A>T (p.Pro1835=)
c.3569A>T
c.5382A>T (p.Pro1794=)
c.5538A>T (p.Pro1846=)
12g.51806992A=CA2036194227SCN8Ac.5506A= (p.Met1836=)
c.3570A=
c.5383A= (p.Met1795=)
c.5539A= (p.Met1847=)
12g.51806992A>CCA384886994SCN8Ac.5506A>C (p.Met1836Leu)
c.3570A>C
c.5383A>C (p.Met1795Leu)
c.5539A>C (p.Met1847Leu)
12g.51806992A>GCA6571926SCN8Ac.5506A>G (p.Met1836Val)
c.3570A>G
c.5383A>G (p.Met1795Val)
c.5539A>G (p.Met1847Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806992A>TCA236327668SCN8Ac.5506A>T (p.Met1836Leu)
c.3570A>T
c.5383A>T (p.Met1795Leu)
c.5539A>T (p.Met1847Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806993T>ACA384887002SCN8Ac.5507T>A (p.Met1836Lys)
c.3571T>A
c.5384T>A (p.Met1795Lys)
c.5540T>A (p.Met1847Lys)
12g.51806993T>CCA384887004SCN8Ac.5507T>C (p.Met1836Thr)
c.3571T>C
c.5384T>C (p.Met1795Thr)
c.5540T>C (p.Met1847Thr)
 dbSNP gnomAD v4
12g.51806993T>GCA384887003SCN8Ac.5507T>G (p.Met1836Arg)
c.3571T>G
c.5384T>G (p.Met1795Arg)
c.5540T>G (p.Met1847Arg)
12g.51806993T=CA2036194231SCN8Ac.5507T= (p.Met1836=)
c.3571T=
c.5384T= (p.Met1795=)
c.5540T= (p.Met1847=)
12g.51806994G>ACA384887008SCN8Ac.5508G>A (p.Met1836Ile)
c.3572G>A
c.5385G>A (p.Met1795Ile)
c.5541G>A (p.Met1847Ile)
12g.51806994G>CCA384887019SCN8Ac.5508G>C (p.Met1836Ile)
c.3572G>C
c.5385G>C (p.Met1795Ile)
c.5541G>C (p.Met1847Ile)
12g.51806994G>TCA384887026SCN8Ac.5508G>T (p.Met1836Ile)
c.3572G>T
c.5385G>T (p.Met1795Ile)
c.5541G>T (p.Met1847Ile)
12g.51806995G>ACA384887030SCN8Ac.5509G>A (p.Val1837Met)
c.3573G>A
c.5386G>A (p.Val1796Met)
c.5542G>A (p.Val1848Met)
12g.51806995G>CCA384887031SCN8Ac.5509G>C (p.Val1837Leu)
c.3573G>C
c.5386G>C (p.Val1796Leu)
c.5542G>C (p.Val1848Leu)
12g.51806995G>TCA384887033SCN8Ac.5509G>T (p.Val1837Leu)
c.3573G>T
c.5386G>T (p.Val1796Leu)
c.5542G>T (p.Val1848Leu)
12g.51806996T>ACA384887038SCN8Ac.5510T>A (p.Val1837Glu)
c.3574T>A
c.5387T>A (p.Val1796Glu)
c.5543T>A (p.Val1848Glu)
12g.51806996T>CCA384887052SCN8Ac.5510T>C (p.Val1837Ala)
c.3574T>C
c.5387T>C (p.Val1796Ala)
c.5543T>C (p.Val1848Ala)
12g.51806996T>GCA384887056SCN8Ac.5510T>G (p.Val1837Gly)
c.3574T>G
c.5387T>G (p.Val1796Gly)
c.5543T>G (p.Val1848Gly)
12g.51806997G>ACA480061912SCN8Ac.5511G>A (p.Val1837=)
c.3575G>A
c.5388G>A (p.Val1796=)
c.5544G>A (p.Val1848=)
12g.51806997G>CCA480061911SCN8Ac.5511G>C (p.Val1837=)
c.3575G>C
c.5388G>C (p.Val1796=)
c.5544G>C (p.Val1848=)
12g.51806997G>TCA480061910SCN8Ac.5511G>T (p.Val1837=)
c.3575G>T
c.5388G>T (p.Val1796=)
c.5544G>T (p.Val1848=)
12g.51806998A>CCA384887060SCN8Ac.5512A>C (p.Ser1838Arg)
c.3576A>C
c.5389A>C (p.Ser1797Arg)
c.5545A>C (p.Ser1849Arg)
12g.51806998A>GCA384887061SCN8Ac.5512A>G (p.Ser1838Gly)
c.3576A>G
c.5389A>G (p.Ser1797Gly)
c.5545A>G (p.Ser1849Gly)
12g.51806998A>TCA384887062SCN8Ac.5512A>T (p.Ser1838Cys)
c.3576A>T
c.5389A>T (p.Ser1797Cys)
c.5545A>T (p.Ser1849Cys)
12g.51806999G>ACA384887073SCN8Ac.5513G>A (p.Ser1838Asn)
c.3577G>A
c.5390G>A (p.Ser1797Asn)
c.5546G>A (p.Ser1849Asn)
12g.51806999G>CCA384887067SCN8Ac.5513G>C (p.Ser1838Thr)
c.3577G>C
c.5390G>C (p.Ser1797Thr)
c.5546G>C (p.Ser1849Thr)
12g.51806999G>TCA384887066SCN8Ac.5513G>T (p.Ser1838Ile)
c.3577G>T
c.5390G>T (p.Ser1797Ile)
c.5546G>T (p.Ser1849Ile)
12g.51807000C>ACA384887074SCN8Ac.5514C>A (p.Ser1838Arg)
c.3578C>A
c.5391C>A (p.Ser1797Arg)
c.5547C>A (p.Ser1849Arg)
12g.51807000C=CA2036194235SCN8Ac.5514C= (p.Ser1838=)
c.3578C=
c.5391C= (p.Ser1797=)
c.5547C= (p.Ser1849=)
12g.51807000C>GCA384887077SCN8Ac.5514C>G (p.Ser1838Arg)
c.3578C>G
c.5391C>G (p.Ser1797Arg)
c.5547C>G (p.Ser1849Arg)
12g.51807000C>TCA6571927SCN8Ac.5514C>T (p.Ser1838=)
c.3578C>T
c.5391C>T (p.Ser1797=)
c.5547C>T (p.Ser1849=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807001G>ACA384887082SCN8Ac.5515G>A (p.Gly1839Arg)
c.5392G>A (p.Gly1798Arg)
c.5548G>A (p.Gly1850Arg)
 ClinVar dbSNP gnomAD v4
12g.51807001G>CCA384887084SCN8Ac.5515G>C (p.Gly1839Arg)
c.5392G>C (p.Gly1798Arg)
c.5548G>C (p.Gly1850Arg)
 gnomAD v4
12g.51807001G=CA2036194241SCN8Ac.5515G= (p.Gly1839=)
c.5392G= (p.Gly1798=)
c.5548G= (p.Gly1850=)
12g.51807001G>TCA384887088SCN8Ac.5515G>T (p.Gly1839Trp)
c.5392G>T (p.Gly1798Trp)
c.5548G>T (p.Gly1850Trp)
12g.51807002G>ACA384887089SCN8Ac.5516G>A (p.Gly1839Glu)
c.5393G>A (p.Gly1798Glu)
c.5549G>A (p.Gly1850Glu)
12g.51807002G>CCA384887090SCN8Ac.5516G>C (p.Gly1839Ala)
c.5393G>C (p.Gly1798Ala)
c.5549G>C (p.Gly1850Ala)
12g.51807002G>TCA384887091SCN8Ac.5516G>T (p.Gly1839Val)
c.5393G>T (p.Gly1798Val)
c.5549G>T (p.Gly1850Val)
 gnomAD v4
12g.51807003G>ACA480061918SCN8Ac.5517G>A (p.Gly1839=)
c.5394G>A (p.Gly1798=)
c.5550G>A (p.Gly1850=)
12g.51807003G>CCA480061919SCN8Ac.5517G>C (p.Gly1839=)
c.5394G>C (p.Gly1798=)
c.5550G>C (p.Gly1850=)
12g.51807003G>TCA480061920SCN8Ac.5517G>T (p.Gly1839=)
c.5394G>T (p.Gly1798=)
c.5550G>T (p.Gly1850=)
12g.51807003_51807004insTACA2618841927SCN8Ac.5517_5518insTA (p.Asp1840Ter)
c.5394_5395insTA (p.Asp1799Ter)
c.5550_5551insTA (p.Asp1851Ter)
 gnomAD v4
12g.51807004G>ACA384887096SCN8Ac.5518G>A (p.Asp1840Asn)
c.5395G>A (p.Asp1799Asn)
c.5551G>A (p.Asp1851Asn)
12g.51807004G>CCA384887099SCN8Ac.5518G>C (p.Asp1840His)
c.5395G>C (p.Asp1799His)
c.5551G>C (p.Asp1851His)
12g.51807004G>TCA384887101SCN8Ac.5518G>T (p.Asp1840Tyr)
c.5395G>T (p.Asp1799Tyr)
c.5551G>T (p.Asp1851Tyr)
12g.51807005A>CCA384887108SCN8Ac.5519A>C (p.Asp1840Ala)
c.5396A>C (p.Asp1799Ala)
c.5552A>C (p.Asp1851Ala)
12g.51807005A>GCA384887123SCN8Ac.5519A>G (p.Asp1840Gly)
c.5396A>G (p.Asp1799Gly)
c.5552A>G (p.Asp1851Gly)
12g.51807005A>TCA384887120SCN8Ac.5519A>T (p.Asp1840Val)
c.5396A>T (p.Asp1799Val)
c.5552A>T (p.Asp1851Val)
12g.51807006T>ACA384887126SCN8Ac.5520T>A (p.Asp1840Glu)
c.5397T>A (p.Asp1799Glu)
c.5553T>A (p.Asp1851Glu)
12g.51807006T>CCA480061924SCN8Ac.5520T>C (p.Asp1840=)
c.5397T>C (p.Asp1799=)
c.5553T>C (p.Asp1851=)
12g.51807006T>GCA384887131SCN8Ac.5520T>G (p.Asp1840Glu)
c.5397T>G (p.Asp1799Glu)
c.5553T>G (p.Asp1851Glu)
12g.51807007C>ACA384887134SCN8Ac.5521C>A (p.Arg1841Ser)
c.5398C>A (p.Arg1800Ser)
c.5554C>A (p.Arg1852Ser)
12g.51807007C=CA2036194249SCN8Ac.5521C= (p.Arg1841=)
c.5398C= (p.Arg1800=)
c.5554C= (p.Arg1852=)
12g.51807007C>GCA384887137SCN8Ac.5521C>G (p.Arg1841Gly)
c.5398C>G (p.Arg1800Gly)
c.5554C>G (p.Arg1852Gly)
12g.51807007C>TCA6571928SCN8Ac.5521C>T (p.Arg1841Cys)
c.5398C>T (p.Arg1800Cys)
c.5554C>T (p.Arg1852Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51807008G>ACA384887139SCN8Ac.5522G>A (p.Arg1841His)
c.5399G>A (p.Arg1800His)
c.5555G>A (p.Arg1852His)
 ClinVar gnomAD v4 COSMIC COSMIC
12g.51807008G>CCA384887140SCN8Ac.5522G>C (p.Arg1841Pro)
c.5399G>C (p.Arg1800Pro)
c.5555G>C (p.Arg1852Pro)
 ClinVar dbSNP
12g.51807008G=CA2036194260SCN8Ac.5522G= (p.Arg1841=)
c.5399G= (p.Arg1800=)
c.5555G= (p.Arg1852=)
12g.51807008G>TCA384887145SCN8Ac.5522G>T (p.Arg1841Leu)
c.5399G>T (p.Arg1800Leu)
c.5555G>T (p.Arg1852Leu)
12g.51807009C>ACA480061926SCN8Ac.5523C>A (p.Arg1841=)
c.5400C>A (p.Arg1800=)
c.5556C>A (p.Arg1852=)
12g.51807009C>GCA480061927SCN8Ac.5523C>G (p.Arg1841=)
c.5400C>G (p.Arg1800=)
c.5556C>G (p.Arg1852=)
12g.51807009C>TCA480061928SCN8Ac.5523C>T (p.Arg1841=)
c.5400C>T (p.Arg1800=)
c.5556C>T (p.Arg1852=)
12g.51807010A>CCA384887166SCN8Ac.5524A>C (p.Ile1842Leu)
c.5401A>C (p.Ile1801Leu)
c.5557A>C (p.Ile1853Leu)
12g.51807010A>GCA384887170SCN8Ac.5524A>G (p.Ile1842Val)
c.5401A>G (p.Ile1801Val)
c.5557A>G (p.Ile1853Val)
12g.51807010A>TCA384887174SCN8Ac.5524A>T (p.Ile1842Phe)
c.5401A>T (p.Ile1801Phe)
c.5557A>T (p.Ile1853Phe)
12g.51807011T>ACA384887181SCN8Ac.5525T>A (p.Ile1842Asn)
c.5402T>A (p.Ile1801Asn)
c.5558T>A (p.Ile1853Asn)
12g.51807011T>CCA384887184SCN8Ac.5525T>C (p.Ile1842Thr)
c.5402T>C (p.Ile1801Thr)
c.5558T>C (p.Ile1853Thr)
12g.51807011T>GCA384887186SCN8Ac.5525T>G (p.Ile1842Ser)
c.5402T>G (p.Ile1801Ser)
c.5558T>G (p.Ile1853Ser)
12g.51807011dupCA2618841944SCN8Ac.5525dup (p.His1843ProfsTer17)
c.5402dup (p.His1802ProfsTer17)
c.5558dup (p.His1854ProfsTer17)
 gnomAD v4
12g.51807012C>ACA480061932SCN8Ac.5526C>A (p.Ile1842=)
c.5403C>A (p.Ile1801=)
c.5559C>A (p.Ile1853=)
12g.51807012C>GCA384887195SCN8Ac.5526C>G (p.Ile1842Met)
c.5403C>G (p.Ile1801Met)
c.5559C>G (p.Ile1853Met)
12g.51807012C>TCA480061933SCN8Ac.5526C>T (p.Ile1842=)
c.5403C>T (p.Ile1801=)
c.5559C>T (p.Ile1853=)
12g.51807013C>ACA384887199SCN8Ac.5527C>A (p.His1843Asn)
c.5404C>A (p.His1802Asn)
c.5560C>A (p.His1854Asn)
12g.51807013C>GCA384887201SCN8Ac.5527C>G (p.His1843Asp)
c.5404C>G (p.His1802Asp)
c.5560C>G (p.His1854Asp)
12g.51807013C>TCA384887200SCN8Ac.5527C>T (p.His1843Tyr)
c.5404C>T (p.His1802Tyr)
c.5560C>T (p.His1854Tyr)
 gnomAD v4
12g.51807014A>CCA384887206SCN8Ac.5528A>C (p.His1843Pro)
c.5405A>C (p.His1802Pro)
c.5561A>C (p.His1854Pro)
 ClinVar
12g.51807014A>GCA384887213SCN8Ac.5528A>G (p.His1843Arg)
c.5405A>G (p.His1802Arg)
c.5561A>G (p.His1854Arg)
12g.51807014A>TCA384887223SCN8Ac.5528A>T (p.His1843Leu)
c.5405A>T (p.His1802Leu)
c.5561A>T (p.His1854Leu)
12g.51807015C>ACA384887227SCN8Ac.5529C>A (p.His1843Gln)
c.5406C>A (p.His1802Gln)
c.5562C>A (p.His1854Gln)
12g.51807015C>GCA384887230SCN8Ac.5529C>G (p.His1843Gln)
c.5406C>G (p.His1802Gln)
c.5562C>G (p.His1854Gln)
12g.51807015C>TCA480061935SCN8Ac.5529C>T (p.His1843=)
c.5406C>T (p.His1802=)
c.5562C>T (p.His1854=)
12g.51807016T>ACA384887237SCN8Ac.5530T>A (p.Cys1844Ser)
c.5407T>A (p.Cys1803Ser)
c.5563T>A (p.Cys1855Ser)
12g.51807016T>CCA384887240SCN8Ac.5530T>C (p.Cys1844Arg)
c.5407T>C (p.Cys1803Arg)
c.5563T>C (p.Cys1855Arg)
12g.51807016T>GCA384887241SCN8Ac.5530T>G (p.Cys1844Gly)
c.5407T>G (p.Cys1803Gly)
c.5563T>G (p.Cys1855Gly)
12g.51807017G>ACA384887242SCN8Ac.5531G>A (p.Cys1844Tyr)
c.5408G>A (p.Cys1803Tyr)
c.5564G>A (p.Cys1855Tyr)
12g.51807017G>CCA384887245SCN8Ac.5531G>C (p.Cys1844Ser)
c.5408G>C (p.Cys1803Ser)
c.5564G>C (p.Cys1855Ser)
 ClinVar
12g.51807017G>TCA384887246SCN8Ac.5531G>T (p.Cys1844Phe)
c.5408G>T (p.Cys1803Phe)
c.5564G>T (p.Cys1855Phe)
12g.51807018C>ACA384887253SCN8Ac.5532C>A (p.Cys1844Ter)
c.5409C>A (p.Cys1803Ter)
c.5565C>A (p.Cys1855Ter)
 dbSNP
12g.51807018C=CA2036194264SCN8Ac.5532C= (p.Cys1844=)
c.5409C= (p.Cys1803=)
c.5565C= (p.Cys1855=)
12g.51807018C>GCA384887258SCN8Ac.5532C>G (p.Cys1844Trp)
c.5409C>G (p.Cys1803Trp)
c.5565C>G (p.Cys1855Trp)
12g.51807018C>TCA480061938SCN8Ac.5532C>T (p.Cys1844=)
c.5409C>T (p.Cys1803=)
c.5565C>T (p.Cys1855=)
12g.51807019T>ACA384887264SCN8Ac.5533T>A (p.Leu1845Met)
c.5410T>A (p.Leu1804Met)
c.5566T>A (p.Leu1856Met)
12g.51807019T>CCA480061939SCN8Ac.5533T>C (p.Leu1845=)
c.5410T>C (p.Leu1804=)
c.5566T>C (p.Leu1856=)
12g.51807019T>GCA384887267SCN8Ac.5533T>G (p.Leu1845Val)
c.5410T>G (p.Leu1804Val)
c.5566T>G (p.Leu1856Val)
12g.51807020T>ACA384887272SCN8Ac.5534T>A (p.Leu1845Ter)
c.5411T>A (p.Leu1804Ter)
c.5567T>A (p.Leu1856Ter)
 dbSNP
12g.51807020T>CCA384887278SCN8Ac.5534T>C (p.Leu1845Ser)
c.5411T>C (p.Leu1804Ser)
c.5567T>C (p.Leu1856Ser)
 ClinVar dbSNP
12g.51807020T>GCA384887281SCN8Ac.5534T>G (p.Leu1845Trp)
c.5411T>G (p.Leu1804Trp)
c.5567T>G (p.Leu1856Trp)
12g.51807020T=CA2036194268SCN8Ac.5534T= (p.Leu1845=)
c.5411T= (p.Leu1804=)
c.5567T= (p.Leu1856=)
12g.51807021G>ACA480061940SCN8Ac.5535G>A (p.Leu1845=)
c.5412G>A (p.Leu1804=)
c.5568G>A (p.Leu1856=)
 COSMIC
12g.51807021G>CCA384887284SCN8Ac.5535G>C (p.Leu1845Phe)
c.5412G>C (p.Leu1804Phe)
c.5568G>C (p.Leu1856Phe)
12g.51807021G>TCA384887289SCN8Ac.5535G>T (p.Leu1845Phe)
c.5412G>T (p.Leu1804Phe)
c.5568G>T (p.Leu1856Phe)
12g.51807022G>ACA384887294SCN8Ac.5536G>A (p.Asp1846Asn)
c.5413G>A (p.Asp1805Asn)
c.5569G>A (p.Asp1857Asn)
12g.51807022G>CCA384887298SCN8Ac.5536G>C (p.Asp1846His)
c.5413G>C (p.Asp1805His)
c.5569G>C (p.Asp1857His)
12g.51807022G>TCA384887301SCN8Ac.5536G>T (p.Asp1846Tyr)
c.5413G>T (p.Asp1805Tyr)
c.5569G>T (p.Asp1857Tyr)
12g.51807023A>CCA384887302SCN8Ac.5537A>C (p.Asp1846Ala)
c.5414A>C (p.Asp1805Ala)
c.5570A>C (p.Asp1857Ala)
12g.51807023A>GCA384887303SCN8Ac.5537A>G (p.Asp1846Gly)
c.5414A>G (p.Asp1805Gly)
c.5570A>G (p.Asp1857Gly)
12g.51807023A>TCA384887308SCN8Ac.5537A>T (p.Asp1846Val)
c.5414A>T (p.Asp1805Val)
c.5570A>T (p.Asp1857Val)
12g.51807024C>ACA384887325SCN8Ac.5538C>A (p.Asp1846Glu)
c.5415C>A (p.Asp1805Glu)
c.5571C>A (p.Asp1857Glu)
 ClinVar dbSNP
12g.51807024C=CA2036194269SCN8Ac.5538C= (p.Asp1846=)
c.5415C= (p.Asp1805=)
c.5571C= (p.Asp1857=)
12g.51807024C>GCA384887312SCN8Ac.5538C>G (p.Asp1846Glu)
c.5415C>G (p.Asp1805Glu)
c.5571C>G (p.Asp1857Glu)
12g.51807024C>TCA480061943SCN8Ac.5538C>T (p.Asp1846=)
c.5415C>T (p.Asp1805=)
c.5571C>T (p.Asp1857=)
 dbSNP
12g.51807025A>CCA384887332SCN8Ac.5539A>C (p.Ile1847Leu)
c.5416A>C (p.Ile1806Leu)
c.5572A>C (p.Ile1858Leu)
12g.51807025A>GCA384887336SCN8Ac.5539A>G (p.Ile1847Val)
c.5416A>G (p.Ile1806Val)
c.5572A>G (p.Ile1858Val)
12g.51807025A>TCA384887340SCN8Ac.5539A>T (p.Ile1847Phe)
c.5416A>T (p.Ile1806Phe)
c.5572A>T (p.Ile1858Phe)
12g.51807026T>ACA384887345SCN8Ac.5540T>A (p.Ile1847Asn)
c.5417T>A (p.Ile1806Asn)
c.5573T>A (p.Ile1858Asn)
12g.51807026T>CCA384887349SCN8Ac.5540T>C (p.Ile1847Thr)
c.5417T>C (p.Ile1806Thr)
c.5573T>C (p.Ile1858Thr)
12g.51807026T>GCA384887354SCN8Ac.5540T>G (p.Ile1847Ser)
c.5417T>G (p.Ile1806Ser)
c.5573T>G (p.Ile1858Ser)
12g.51807027C>ACA480061947SCN8Ac.5541C>A (p.Ile1847=)
c.5418C>A (p.Ile1806=)
c.5574C>A (p.Ile1858=)
12g.51807027C>GCA384887357SCN8Ac.5541C>G (p.Ile1847Met)
c.5418C>G (p.Ile1806Met)
c.5574C>G (p.Ile1858Met)
12g.51807027C>TCA480061949SCN8Ac.5541C>T (p.Ile1847=)
c.5418C>T (p.Ile1806=)
c.5574C>T (p.Ile1858=)
12g.51807028C>ACA384887361SCN8Ac.5542C>A (p.Leu1848Ile)
c.5419C>A (p.Leu1807Ile)
c.5575C>A (p.Leu1859Ile)
12g.51807028C>GCA384887362SCN8Ac.5542C>G (p.Leu1848Val)
c.5419C>G (p.Leu1807Val)
c.5575C>G (p.Leu1859Val)
12g.51807028C>TCA384887363SCN8Ac.5542C>T (p.Leu1848Phe)
c.5419C>T (p.Leu1807Phe)
c.5575C>T (p.Leu1859Phe)
12g.51807029T>ACA384887369SCN8Ac.5543T>A (p.Leu1848His)
c.5420T>A (p.Leu1807His)
c.5576T>A (p.Leu1859His)
12g.51807029T>CCA384887372SCN8Ac.5543T>C (p.Leu1848Pro)
c.5420T>C (p.Leu1807Pro)
c.5576T>C (p.Leu1859Pro)
12g.51807029T>GCA384887376SCN8Ac.5543T>G (p.Leu1848Arg)
c.5420T>G (p.Leu1807Arg)
c.5576T>G (p.Leu1859Arg)
12g.51807030T>ACA480061953SCN8Ac.5544T>A (p.Leu1848=)
c.5421T>A (p.Leu1807=)
c.5577T>A (p.Leu1859=)
12g.51807030T>CCA236327674SCN8Ac.5544T>C (p.Leu1848=)
c.5421T>C (p.Leu1807=)
c.5577T>C (p.Leu1859=)
 dbSNP gnomAD v4
12g.51807030T>GCA480061952SCN8Ac.5544T>G (p.Leu1848=)
c.5421T>G (p.Leu1807=)
c.5577T>G (p.Leu1859=)
12g.51807030T=CA2036194272SCN8Ac.5544T= (p.Leu1848=)
c.5421T= (p.Leu1807=)
c.5577T= (p.Leu1859=)
12g.51807031T>ACA384887385SCN8Ac.5545T>A (p.Phe1849Ile)
c.5422T>A (p.Phe1808Ile)
c.5578T>A (p.Phe1860Ile)
12g.51807031T>CCA384887389SCN8Ac.5545T>C (p.Phe1849Leu)
c.5422T>C (p.Phe1808Leu)
c.5578T>C (p.Phe1860Leu)
12g.51807031T>GCA384887382SCN8Ac.5545T>G (p.Phe1849Val)
c.5422T>G (p.Phe1808Val)
c.5578T>G (p.Phe1860Val)
12g.51807032T>ACA384887398SCN8Ac.5546T>A (p.Phe1849Tyr)
c.5423T>A (p.Phe1808Tyr)
c.5579T>A (p.Phe1860Tyr)
12g.51807032T>CCA384887394SCN8Ac.5546T>C (p.Phe1849Ser)
c.5423T>C (p.Phe1808Ser)
c.5579T>C (p.Phe1860Ser)
12g.51807032T>GCA384887399SCN8Ac.5546T>G (p.Phe1849Cys)
c.5423T>G (p.Phe1808Cys)
c.5579T>G (p.Phe1860Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.51807032T=CA2036194277SCN8Ac.5546T= (p.Phe1849=)
c.5423T= (p.Phe1808=)
c.5579T= (p.Phe1860=)
12g.51807033T>ACA384887400SCN8Ac.5547T>A (p.Phe1849Leu)
c.5424T>A (p.Phe1808Leu)
c.5580T>A (p.Phe1860Leu)
12g.51807033T>CCA480061957SCN8Ac.5547T>C (p.Phe1849=)
c.5424T>C (p.Phe1808=)
c.5580T>C (p.Phe1860=)
12g.51807033T>GCA384887401SCN8Ac.5547T>G (p.Phe1849Leu)
c.5424T>G (p.Phe1808Leu)
c.5580T>G (p.Phe1860Leu)
 ClinVar dbSNP
12g.51807034G>ACA384887404SCN8Ac.5548G>A (p.Ala1850Thr)
c.5425G>A (p.Ala1809Thr)
c.5581G>A (p.Ala1861Thr)
12g.51807034G>CCA384887406SCN8Ac.5548G>C (p.Ala1850Pro)
c.5425G>C (p.Ala1809Pro)
c.5581G>C (p.Ala1861Pro)
12g.51807034G>TCA384887405SCN8Ac.5548G>T (p.Ala1850Ser)
c.5425G>T (p.Ala1809Ser)
c.5581G>T (p.Ala1861Ser)
12g.51807035C>ACA384887409SCN8Ac.5549C>A (p.Ala1850Asp)
c.5426C>A (p.Ala1809Asp)
c.5582C>A (p.Ala1861Asp)
12g.51807035C=CA2036194286SCN8Ac.5549C= (p.Ala1850=)
c.5426C= (p.Ala1809=)
c.5582C= (p.Ala1861=)
12g.51807035C>GCA384887417SCN8Ac.5549C>G (p.Ala1850Gly)
c.5426C>G (p.Ala1809Gly)
c.5582C>G (p.Ala1861Gly)
12g.51807035C>TCA384887413SCN8Ac.5549C>T (p.Ala1850Val)
c.5426C>T (p.Ala1809Val)
c.5582C>T (p.Ala1861Val)
 ClinVar dbSNP
12g.51807036C>ACA480061960SCN8Ac.5550C>A (p.Ala1850=)
c.5427C>A (p.Ala1809=)
c.5583C>A (p.Ala1861=)
12g.51807036C>GCA480061959SCN8Ac.5550C>G (p.Ala1850=)
c.5427C>G (p.Ala1809=)
c.5583C>G (p.Ala1861=)
12g.51807036C>TCA480061961SCN8Ac.5550C>T (p.Ala1850=)
c.5427C>T (p.Ala1809=)
c.5583C>T (p.Ala1861=)
12g.51807037T>ACA384887426SCN8Ac.5551T>A (p.Phe1851Ile)
c.5428T>A (p.Phe1810Ile)
c.5584T>A (p.Phe1862Ile)
12g.51807037T>CCA384887437SCN8Ac.5551T>C (p.Phe1851Leu)
c.5428T>C (p.Phe1810Leu)
c.5584T>C (p.Phe1862Leu)
12g.51807037T>GCA384887431SCN8Ac.5551T>G (p.Phe1851Val)
c.5428T>G (p.Phe1810Val)
c.5584T>G (p.Phe1862Val)
 COSMIC COSMIC
12g.51807038T>ACA384887441SCN8Ac.5552T>A (p.Phe1851Tyr)
c.5429T>A (p.Phe1810Tyr)
c.5585T>A (p.Phe1862Tyr)
12g.51807038T>CCA384887448SCN8Ac.5552T>C (p.Phe1851Ser)
c.5429T>C (p.Phe1810Ser)
c.5585T>C (p.Phe1862Ser)
12g.51807038T>GCA384887444SCN8Ac.5552T>G (p.Phe1851Cys)
c.5429T>G (p.Phe1810Cys)
c.5585T>G (p.Phe1862Cys)
12g.51807039C>ACA384887453SCN8Ac.5553C>A (p.Phe1851Leu)
c.5430C>A (p.Phe1810Leu)
c.5586C>A (p.Phe1862Leu)
12g.51807039C>GCA384887460SCN8Ac.5553C>G (p.Phe1851Leu)
c.5430C>G (p.Phe1810Leu)
c.5586C>G (p.Phe1862Leu)
12g.51807039C>TCA480061966SCN8Ac.5553C>T (p.Phe1851=)
c.5430C>T (p.Phe1810=)
c.5586C>T (p.Phe1862=)
12g.51807040A>CCA384887465SCN8Ac.5554A>C (p.Thr1852Pro)
c.5431A>C (p.Thr1811Pro)
c.5587A>C (p.Thr1863Pro)
12g.51807040A>GCA384887468SCN8Ac.5554A>G (p.Thr1852Ala)
c.5431A>G (p.Thr1811Ala)
c.5587A>G (p.Thr1863Ala)
12g.51807040A>TCA384887473SCN8Ac.5554A>T (p.Thr1852Ser)
c.5431A>T (p.Thr1811Ser)
c.5587A>T (p.Thr1863Ser)
12g.51807041C>ACA384887478SCN8Ac.5555C>A (p.Thr1852Asn)
c.5432C>A (p.Thr1811Asn)
c.5588C>A (p.Thr1863Asn)
12g.51807041C=CA2036194289SCN8Ac.5555C= (p.Thr1852=)
c.5432C= (p.Thr1811=)
c.5588C= (p.Thr1863=)
12g.51807041C>GCA384887503SCN8Ac.5555C>G (p.Thr1852Ser)
c.5432C>G (p.Thr1811Ser)
c.5588C>G (p.Thr1863Ser)
12g.51807041C>TCA318298SCN8Ac.5555C>T (p.Thr1852Ile)
c.5432C>T (p.Thr1811Ile)
c.5588C>T (p.Thr1863Ile)
 ClinVar dbSNP
12g.51807042C>ACA480061971SCN8Ac.5556C>A (p.Thr1852=)
c.5433C>A (p.Thr1811=)
c.5589C>A (p.Thr1863=)
12g.51807042C>GCA480061973SCN8Ac.5556C>G (p.Thr1852=)
c.5433C>G (p.Thr1811=)
c.5589C>G (p.Thr1863=)
12g.51807042C>TCA480061974SCN8Ac.5556C>T (p.Thr1852=)
c.5433C>T (p.Thr1811=)
c.5589C>T (p.Thr1863=)
12g.51807043A=CA2036194295SCN8Ac.5557A= (p.Lys1853=)
c.5434A= (p.Lys1812=)
c.5590A= (p.Lys1864=)
12g.51807043A>CCA384887519SCN8Ac.5557A>C (p.Lys1853Gln)
c.5434A>C (p.Lys1812Gln)
c.5590A>C (p.Lys1864Gln)
12g.51807043A>GCA384887524SCN8Ac.5557A>G (p.Lys1853Glu)
c.5434A>G (p.Lys1812Glu)
c.5590A>G (p.Lys1864Glu)
12g.51807043A>TCA384887530SCN8Ac.5557A>T (p.Lys1853Ter)
c.5434A>T (p.Lys1812Ter)
c.5590A>T (p.Lys1864Ter)
 dbSNP
12g.51807044A=CA2036194305SCN8Ac.5558A= (p.Lys1853=)
c.5435A= (p.Lys1812=)
c.5591A= (p.Lys1864=)
12g.51807044A>CCA384887546SCN8Ac.5558A>C (p.Lys1853Thr)
c.5435A>C (p.Lys1812Thr)
c.5591A>C (p.Lys1864Thr)
 ClinVar dbSNP
12g.51807044A>GCA384887536SCN8Ac.5558A>G (p.Lys1853Arg)
c.5435A>G (p.Lys1812Arg)
c.5591A>G (p.Lys1864Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807044A>TCA384887537SCN8Ac.5558A>T (p.Lys1853Met)
c.5435A>T (p.Lys1812Met)
c.5591A>T (p.Lys1864Met)
12g.51807045G>ACA6571929SCN8Ac.5559G>A (p.Lys1853=)
c.5436G>A (p.Lys1812=)
c.5592G>A (p.Lys1864=)
 dbSNP ExAC gnomAD v2
12g.51807045G>CCA384887552SCN8Ac.5559G>C (p.Lys1853Asn)
c.5436G>C (p.Lys1812Asn)
c.5592G>C (p.Lys1864Asn)
 ClinVar
12g.51807045G=CA2036194320SCN8Ac.5559G= (p.Lys1853=)
c.5436G= (p.Lys1812=)
c.5592G= (p.Lys1864=)
12g.51807045G>TCA384887555SCN8Ac.5559G>T (p.Lys1853Asn)
c.5436G>T (p.Lys1812Asn)
c.5592G>T (p.Lys1864Asn)
12g.51807046C>ACA480061977SCN8Ac.5560C>A (p.Arg1854=)
c.5437C>A (p.Arg1813=)
c.5593C>A (p.Arg1865=)
12g.51807046C>GCA384887560SCN8Ac.5560C>G (p.Arg1854Gly)
c.5437C>G (p.Arg1813Gly)
c.5593C>G (p.Arg1865Gly)
12g.51807046C>TCA384887561SCN8Ac.5560C>T (p.Arg1854Trp)
c.5437C>T (p.Arg1813Trp)
c.5593C>T (p.Arg1865Trp)
 COSMIC COSMIC
12g.51807047G>ACA236327685SCN8Ac.5561G>A (p.Arg1854Gln)
c.5438G>A (p.Arg1813Gln)
c.5594G>A (p.Arg1865Gln)
 ClinVar dbSNP gnomAD v4
12g.51807047G>CCA384887565SCN8Ac.5561G>C (p.Arg1854Pro)
c.5438G>C (p.Arg1813Pro)
c.5594G>C (p.Arg1865Pro)
12g.51807047G=CA2036194326SCN8Ac.5561G= (p.Arg1854=)
c.5438G= (p.Arg1813=)
c.5594G= (p.Arg1865=)
12g.51807047G>TCA384887566SCN8Ac.5561G>T (p.Arg1854Leu)
c.5438G>T (p.Arg1813Leu)
c.5594G>T (p.Arg1865Leu)
12g.51807048G>ACA480061982SCN8Ac.5562G>A (p.Arg1854=)
c.5439G>A (p.Arg1813=)
c.5595G>A (p.Arg1865=)
 dbSNP gnomAD v2 gnomAD v4
12g.51807048G>CCA480061983SCN8Ac.5562G>C (p.Arg1854=)
c.5439G>C (p.Arg1813=)
c.5595G>C (p.Arg1865=)
12g.51807048G=CA2036194330SCN8Ac.5562G= (p.Arg1854=)
c.5439G= (p.Arg1813=)
c.5595G= (p.Arg1865=)
12g.51807048G>TCA480061984SCN8Ac.5562G>T (p.Arg1854=)
c.5439G>T (p.Arg1813=)
c.5595G>T (p.Arg1865=)
 gnomAD v4
12g.51807049G>ACA384887567SCN8Ac.5563G>A (p.Val1855Ile)
c.5440G>A (p.Val1814Ile)
c.5596G>A (p.Val1866Ile)
12g.51807049G>CCA384887569SCN8Ac.5563G>C (p.Val1855Leu)
c.5440G>C (p.Val1814Leu)
c.5596G>C (p.Val1866Leu)
12g.51807049G>TCA384887570SCN8Ac.5563G>T (p.Val1855Phe)
c.5440G>T (p.Val1814Phe)
c.5596G>T (p.Val1866Phe)
12g.51807050T>ACA384887577SCN8Ac.5564T>A (p.Val1855Asp)
c.5441T>A (p.Val1814Asp)
c.5597T>A (p.Val1866Asp)
 ClinVar dbSNP
12g.51807050T>CCA384887576SCN8Ac.5564T>C (p.Val1855Ala)
c.5441T>C (p.Val1814Ala)
c.5597T>C (p.Val1866Ala)
12g.51807050T>GCA384887575SCN8Ac.5564T>G (p.Val1855Gly)
c.5441T>G (p.Val1814Gly)
c.5597T>G (p.Val1866Gly)
12g.51807051C>ACA480061989SCN8Ac.5565C>A (p.Val1855=)
c.5442C>A (p.Val1814=)
c.5598C>A (p.Val1866=)
12g.51807051C=CA2036194335SCN8Ac.5565C= (p.Val1855=)
c.5442C= (p.Val1814=)
c.5598C= (p.Val1866=)
12g.51807051C>GCA480061988SCN8Ac.5565C>G (p.Val1855=)
c.5442C>G (p.Val1814=)
c.5598C>G (p.Val1866=)
 gnomAD v4
12g.51807051C>TCA480061986SCN8Ac.5565C>T (p.Val1855=)
c.5442C>T (p.Val1814=)
c.5598C>T (p.Val1866=)
 dbSNP
12g.51807052C>ACA384887582SCN8Ac.5566C>A (p.Leu1856Met)
c.5443C>A (p.Leu1815Met)
c.5599C>A (p.Leu1867Met)
12g.51807052C>GCA384887578SCN8Ac.5566C>G (p.Leu1856Val)
c.5443C>G (p.Leu1815Val)
c.5599C>G (p.Leu1867Val)
12g.51807052C>TCA480061990SCN8Ac.5566C>T (p.Leu1856=)
c.5443C>T (p.Leu1815=)
c.5599C>T (p.Leu1867=)
 gnomAD v4
12g.51807053T>ACA384887588SCN8Ac.5567T>A (p.Leu1856Gln)
c.5444T>A (p.Leu1815Gln)
c.5600T>A (p.Leu1867Gln)
12g.51807053T>CCA384887594SCN8Ac.5567T>C (p.Leu1856Pro)
c.5444T>C (p.Leu1815Pro)
c.5600T>C (p.Leu1867Pro)
12g.51807053T>GCA384887597SCN8Ac.5567T>G (p.Leu1856Arg)
c.5444T>G (p.Leu1815Arg)
c.5600T>G (p.Leu1867Arg)
12g.51807054G>ACA480061991SCN8Ac.5568G>A (p.Leu1856=)
c.5445G>A (p.Leu1815=)
c.5601G>A (p.Leu1867=)
12g.51807054G>CCA480061992SCN8Ac.5568G>C (p.Leu1856=)
c.5445G>C (p.Leu1815=)
c.5601G>C (p.Leu1867=)
12g.51807054G>TCA480061993SCN8Ac.5568G>T (p.Leu1856=)
c.5445G>T (p.Leu1815=)
c.5601G>T (p.Leu1867=)
 gnomAD v4
12g.51807056delCA2580086587SCN8Ac.5570del (p.Gly1857GlufsTer?)
c.5447del (p.Gly1816GlufsTer?)
c.5603del (p.Gly1868GlufsTer?)
 ClinVar
12g.51807055G>ACA384887601SCN8Ac.5569G>A (p.Gly1857Arg)
c.5446G>A (p.Gly1816Arg)
c.5602G>A (p.Gly1868Arg)
 COSMIC COSMIC
12g.51807055G>CCA384887602SCN8Ac.5569G>C (p.Gly1857Arg)
c.5446G>C (p.Gly1816Arg)
c.5602G>C (p.Gly1868Arg)
12g.51807055G=CA2036194339SCN8Ac.5569G= (p.Gly1857=)
c.5446G= (p.Gly1816=)
c.5602G= (p.Gly1868=)
12g.51807055G>TCA384887603SCN8Ac.5569G>T (p.Gly1857Ter)
c.5446G>T (p.Gly1816Ter)
c.5602G>T (p.Gly1868Ter)
 dbSNP
12g.51807056G>ACA384887605SCN8Ac.5570G>A (p.Gly1857Glu)
c.5447G>A (p.Gly1816Glu)
c.5603G>A (p.Gly1868Glu)
12g.51807056G>CCA384887606SCN8Ac.5570G>C (p.Gly1857Ala)
c.5447G>C (p.Gly1816Ala)
c.5603G>C (p.Gly1868Ala)
12g.51807056G>TCA384887608SCN8Ac.5570G>T (p.Gly1857Val)
c.5447G>T (p.Gly1816Val)
c.5603G>T (p.Gly1868Val)
12g.51807057A>CCA480061998SCN8Ac.5571A>C (p.Gly1857=)
c.5448A>C (p.Gly1816=)
c.5604A>C (p.Gly1868=)
12g.51807057A>GCA480061999SCN8Ac.5571A>G (p.Gly1857=)
c.5448A>G (p.Gly1816=)
c.5604A>G (p.Gly1868=)
12g.51807057A>TCA480062000SCN8Ac.5571A>T (p.Gly1857=)
c.5448A>T (p.Gly1816=)
c.5604A>T (p.Gly1868=)
12g.51807058G>ACA384887615SCN8Ac.5572G>A (p.Asp1858Asn)
c.5449G>A (p.Asp1817Asn)
c.5605G>A (p.Asp1869Asn)
 COSMIC COSMIC
12g.51807058G>CCA384887618SCN8Ac.5572G>C (p.Asp1858His)
c.5449G>C (p.Asp1817His)
c.5605G>C (p.Asp1869His)
 gnomAD v4
12g.51807058G>TCA384887623SCN8Ac.5572G>T (p.Asp1858Tyr)
c.5449G>T (p.Asp1817Tyr)
c.5605G>T (p.Asp1869Tyr)
12g.51807059A>CCA384887631SCN8Ac.5573A>C (p.Asp1858Ala)
c.5450A>C (p.Asp1817Ala)
c.5606A>C (p.Asp1869Ala)
12g.51807059A>GCA384887639SCN8Ac.5573A>G (p.Asp1858Gly)
c.5450A>G (p.Asp1817Gly)
c.5606A>G (p.Asp1869Gly)
12g.51807059A>TCA384887634SCN8Ac.5573A>T (p.Asp1858Val)
c.5450A>T (p.Asp1817Val)
c.5606A>T (p.Asp1869Val)
12g.51807060T>ACA384887647SCN8Ac.5574T>A (p.Asp1858Glu)
c.5451T>A (p.Asp1817Glu)
c.5607T>A (p.Asp1869Glu)
12g.51807060T>CCA480062004SCN8Ac.5574T>C (p.Asp1858=)
c.5451T>C (p.Asp1817=)
c.5607T>C (p.Asp1869=)
 gnomAD v4
12g.51807060T>GCA384887675SCN8Ac.5574T>G (p.Asp1858Glu)
c.5451T>G (p.Asp1817Glu)
c.5607T>G (p.Asp1869Glu)
12g.51807061A=CA2036194346SCN8Ac.5575A= (p.Ser1859=)
c.5452A= (p.Ser1818=)
c.5608A= (p.Ser1870=)
12g.51807061A>CCA384887683SCN8Ac.5575A>C (p.Ser1859Arg)
c.5452A>C (p.Ser1818Arg)
c.5608A>C (p.Ser1870Arg)
12g.51807061A>GCA384887687SCN8Ac.5575A>G (p.Ser1859Gly)
c.5452A>G (p.Ser1818Gly)
c.5608A>G (p.Ser1870Gly)
 ClinVar dbSNP
12g.51807061A>TCA384887697SCN8Ac.5575A>T (p.Ser1859Cys)
c.5452A>T (p.Ser1818Cys)
c.5608A>T (p.Ser1870Cys)
12g.51807062G>ACA384887701SCN8Ac.5576G>A (p.Ser1859Asn)
c.5453G>A (p.Ser1818Asn)
c.5609G>A (p.Ser1870Asn)
12g.51807062G>CCA384887705SCN8Ac.5576G>C (p.Ser1859Thr)
c.5453G>C (p.Ser1818Thr)
c.5609G>C (p.Ser1870Thr)
 gnomAD v4
12g.51807062G>TCA384887709SCN8Ac.5576G>T (p.Ser1859Ile)
c.5453G>T (p.Ser1818Ile)
c.5609G>T (p.Ser1870Ile)
12g.51807063C>ACA384887714SCN8Ac.5577C>A (p.Ser1859Arg)
c.5454C>A (p.Ser1818Arg)
c.5610C>A (p.Ser1870Arg)
12g.51807063C=CA2036194355SCN8Ac.5577C= (p.Ser1859=)
c.5454C= (p.Ser1818=)
c.5610C= (p.Ser1870=)
12g.51807063C>GCA384887719SCN8Ac.5577C>G (p.Ser1859Arg)
c.5454C>G (p.Ser1818Arg)
c.5610C>G (p.Ser1870Arg)
12g.51807063C>TCA6571930SCN8Ac.5577C>T (p.Ser1859=)
c.5454C>T (p.Ser1818=)
c.5610C>T (p.Ser1870=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807064G>ACA384887740SCN8Ac.5578G>A (p.Gly1860Arg)
c.5455G>A (p.Gly1819Arg)
c.5611G>A (p.Gly1871Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.51807064G>CCA384887741SCN8Ac.5578G>C (p.Gly1860Arg)
c.5455G>C (p.Gly1819Arg)
c.5611G>C (p.Gly1871Arg)
12g.51807064G=CA2036194364SCN8Ac.5578G= (p.Gly1860=)
c.5455G= (p.Gly1819=)
c.5611G= (p.Gly1871=)
12g.51807064G>TCA384887733SCN8Ac.5578G>T (p.Gly1860Trp)
c.5455G>T (p.Gly1819Trp)
c.5611G>T (p.Gly1871Trp)
12g.51807065G>ACA384887747SCN8Ac.5579G>A (p.Gly1860Glu)
c.5456G>A (p.Gly1819Glu)
c.5612G>A (p.Gly1871Glu)
12g.51807065G>CCA384887754SCN8Ac.5579G>C (p.Gly1860Ala)
c.5456G>C (p.Gly1819Ala)
c.5612G>C (p.Gly1871Ala)
12g.51807065G>TCA384887750SCN8Ac.5579G>T (p.Gly1860Val)
c.5456G>T (p.Gly1819Val)
c.5612G>T (p.Gly1871Val)
12g.51807065_51807085dupCA2499221741SCN8Ac.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg)
c.5456_5476dup (p.Arg1825_Gln1826insArgGluLeuAspIleLeuArg)
c.5612_5632dup (p.Arg1877_Gln1878insArgGluLeuAspIleLeuArg)
 ClinVar dbSNP
12g.51807066G>ACA6571931SCN8Ac.5580G>A (p.Gly1860=)
c.5457G>A (p.Gly1819=)
c.5613G>A (p.Gly1871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807066G>CCA480062007SCN8Ac.5580G>C (p.Gly1860=)
c.5457G>C (p.Gly1819=)
c.5613G>C (p.Gly1871=)
12g.51807066G=CA2036194374SCN8Ac.5580G= (p.Gly1860=)
c.5457G= (p.Gly1819=)
c.5613G= (p.Gly1871=)
12g.51807066G>TCA480062008SCN8Ac.5580G>T (p.Gly1860=)
c.5457G>T (p.Gly1819=)
c.5613G>T (p.Gly1871=)
12g.51807067G>ACA384887757SCN8Ac.5581G>A (p.Glu1861Lys)
c.5458G>A (p.Glu1820Lys)
c.5614G>A (p.Glu1872Lys)
12g.51807067G>CCA384887759SCN8Ac.5581G>C (p.Glu1861Gln)
c.5458G>C (p.Glu1820Gln)
c.5614G>C (p.Glu1872Gln)
12g.51807067G=CA2036194377SCN8Ac.5581G= (p.Glu1861=)
c.5458G= (p.Glu1820=)
c.5614G= (p.Glu1872=)
12g.51807067G>TCA384887764SCN8Ac.5581G>T (p.Glu1861Ter)
c.5458G>T (p.Glu1820Ter)
c.5614G>T (p.Glu1872Ter)
 dbSNP
12g.51807068A>CCA384887767SCN8Ac.5582A>C (p.Glu1861Ala)
c.5459A>C (p.Glu1820Ala)
c.5615A>C (p.Glu1872Ala)
12g.51807068A>GCA384887768SCN8Ac.5582A>G (p.Glu1861Gly)
c.5459A>G (p.Glu1820Gly)
c.5615A>G (p.Glu1872Gly)
 ClinVar dbSNP
12g.51807068A>TCA384887769SCN8Ac.5582A>T (p.Glu1861Val)
c.5459A>T (p.Glu1820Val)
c.5615A>T (p.Glu1872Val)

Number of alleles fetched