Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154904786delCA2579744560F8c.5586+26del (n.5586+26del)
c.5481+26del (n.5481+26del)
Xg.154904786G>ACA2579744561F8c.5586+25C>T (n.5586+25C>T)
c.5481+25C>T (n.5481+25C>T)
Xg.154904786G>TCA2695168142F8c.5586+25C>A (n.5586+25C>A)
c.5481+25C>A (n.5481+25C>A)
 gnomAD v4
Xg.154904789A>GCA2695168143F8c.5586+22T>C (n.5586+22T>C)
c.5481+22T>C (n.5481+22T>C)
 gnomAD v4
Xg.154904790G>ACA2695168144F8c.5586+21C>T (n.5586+21C>T)
c.5481+21C>T (n.5481+21C>T)
 gnomAD v4
Xg.154904790G>TCA2579744562F8c.5586+21C>A (n.5586+21C>A)
c.5481+21C>A (n.5481+21C>A)
 gnomAD v4
Xg.154904791C=CA2466828406F8c.5586+20G= (n.5586+20G=)
c.5481+20G= (n.5481+20G=)
Xg.154904791C>TCA645292784F8c.5586+20G>A (n.5586+20G>A)
c.5481+20G>A (n.5481+20G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904793C=CA2466828407F8c.5586+18G= (n.5586+18G=)
c.5481+18G= (n.5481+18G=)
Xg.154904793C>GCA337318614F8c.5586+18G>C (n.5586+18G>C)
c.5481+18G>C (n.5481+18G>C)
 dbSNP
Xg.154904794A=CA2466828408F8c.5586+17T= (n.5586+17T=)
c.5481+17T= (n.5481+17T=)
Xg.154904794A>TCA337318621F8c.5586+17T>A (n.5586+17T>A)
c.5481+17T>A (n.5481+17T>A)
 dbSNP
Xg.154904795delCA2579744563F8c.5586+17del (n.5586+17del)
c.5481+17del (n.5481+17del)
Xg.154904795A>TCA2695238082F8c.5586+16T>A (n.5586+16T>A)
c.5481+16T>A (n.5481+16T>A)
Xg.154904796T>CCA645292785F8c.5586+15A>G (n.5586+15A>G)
c.5481+15A>G (n.5481+15A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904796T=CA2466828409F8c.5586+15A= (n.5586+15A=)
c.5481+15A= (n.5481+15A=)
Xg.154904798_154904799delCA2579744564F8c.5586+13_5586+14del (n.5586+13_5586+14del)
c.5481+13_5481+14del (n.5481+13_5481+14del)
Xg.154904798G>TCA2695168145F8c.5586+13C>A (n.5586+13C>A)
c.5481+13C>A (n.5481+13C>A)
 gnomAD v4
Xg.154904799A>GCA2695168146F8c.5586+12T>C (n.5586+12T>C)
c.5481+12T>C (n.5481+12T>C)
 gnomAD v4
Xg.154904800C=CA2466828410F8c.5586+11G= (n.5586+11G=)
c.5481+11G= (n.5481+11G=)
Xg.154904800C>TCA645292786F8c.5586+11G>A (n.5586+11G>A)
c.5481+11G>A (n.5481+11G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904802C>ACA2466828412F8c.5586+9G>T (n.5586+9G>T)
c.5481+9G>T (n.5481+9G>T)
 dbSNP
Xg.154904802C=CA2466828411F8c.5586+9G= (n.5586+9G=)
c.5481+9G= (n.5481+9G=)
Xg.154904803C>GCA2695168147F8c.5586+8G>C (n.5586+8G>C)
c.5481+8G>C (n.5481+8G>C)
 gnomAD v4
Xg.154904804T>CCA10567963F8c.5586+7A>G (n.5586+7A>G)
c.5481+7A>G (n.5481+7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904804T=CA2466828413F8c.5586+7A= (n.5586+7A=)
c.5481+7A= (n.5481+7A=)
Xg.154904805G>ACA1138596839F8c.5586+6C>T (n.5586+6C>T)
c.5481+6C>T (n.5481+6C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904805G=CA2466828414F8c.5586+6C= (n.5586+6C=)
c.5481+6C= (n.5481+6C=)
Xg.154904805G>TCA2824314879F8c.5586+6C>A (n.5586+6C>A)
c.5481+6C>A (n.5481+6C>A)
Xg.154904806C>TCA2695238083F8c.5586+5G>A (n.5586+5G>A)
c.5481+5G>A (n.5481+5G>A)
Xg.154904812_154905024delCA2695238084F8c.5378_5586+4del
c.5273_5481+4del
Xg.154904808T>ACA2695238086F8c.5586+3A>T (n.5586+3A>T)
c.5481+3A>T (n.5481+3A>T)
Xg.154904809A>CCA414908350F8c.5586+2T>G (n.5586+2T>G)
c.5481+2T>G (n.5481+2T>G)
Xg.154904809A>GCA414908349F8c.5586+2T>C (n.5586+2T>C)
c.5481+2T>C (n.5481+2T>C)
 ClinVar
Xg.154904809A>TCA414908347F8c.5586+2T>A (n.5586+2T>A)
c.5481+2T>A (n.5481+2T>A)
Xg.154904810C>ACA414908353F8c.5586+1G>T (n.5586+1G>T)
c.5481+1G>T (n.5481+1G>T)
Xg.154904810C=CA2466828415F8c.5586+1G= (n.5586+1G=)
c.5481+1G= (n.5481+1G=)
Xg.154904810C>GCA414908355F8c.5586+1G>C (n.5586+1G>C)
c.5481+1G>C (n.5481+1G>C)
 dbSNP
Xg.154904810C>TCA414908357F8c.5586+1G>A (n.5586+1G>A)
c.5481+1G>A (n.5481+1G>A)
Xg.154904811C>ACA519356725F8c.5586G>T (p.Leu1862=)
c.5481G>T (p.Leu1827=)
 COSMIC COSMIC
Xg.154904811C>GCA519356729F8c.5586G>C (p.Leu1862=)
c.5481G>C (p.Leu1827=)
Xg.154904811C>TCA519356732F8c.5586G>A (p.Leu1862=)
c.5481G>A (p.Leu1827=)
 ClinVar dbSNP
Xg.154904812delCA2695238091F8c.5585del (p.Leu1862ArgfsTer9)
c.5480del (p.Leu1827ArgfsTer9)
Xg.154904812A>CCA414908360F8c.5585T>G (p.Leu1862Arg)
c.5480T>G (p.Leu1827Arg)
Xg.154904812A>GCA414908361F8c.5585T>C (p.Leu1862Pro)
c.5480T>C (p.Leu1827Pro)
Xg.154904812A>TCA414908363F8c.5585T>A (p.Leu1862Gln)
c.5480T>A (p.Leu1827Gln)
Xg.154904813G>ACA519356740F8c.5584C>T (p.Leu1862=)
c.5479C>T (p.Leu1827=)
Xg.154904813G>CCA414908366F8c.5584C>G (p.Leu1862Val)
c.5479C>G (p.Leu1827Val)
Xg.154904813G>TCA414908367F8c.5584C>A (p.Leu1862Met)
c.5479C>A (p.Leu1827Met)
Xg.154904814G>ACA519356751F8c.5583C>T (p.Asp1861=)
c.5478C>T (p.Asp1826=)
Xg.154904814G>CCA414908368F8c.5583C>G (p.Asp1861Glu)
c.5478C>G (p.Asp1826Glu)
Xg.154904814G>TCA414908369F8c.5583C>A (p.Asp1861Glu)
c.5478C>A (p.Asp1826Glu)
Xg.154904814_154904816delCA2695238092F8c.5581_5583del (p.Asp1861del)
c.5476_5478del (p.Asp1826del)
Xg.154904815T>ACA414908372F8c.5582A>T (p.Asp1861Val)
c.5477A>T (p.Asp1826Val)
Xg.154904815T>CCA414908373F8c.5582A>G (p.Asp1861Gly)
c.5477A>G (p.Asp1826Gly)
 ClinVar dbSNP
Xg.154904815T>GCA414908375F8c.5582A>C (p.Asp1861Ala)
c.5477A>C (p.Asp1826Ala)
Xg.154904816C>ACA414908381F8c.5581G>T (p.Asp1861Tyr)
c.5476G>T (p.Asp1826Tyr)
 dbSNP
Xg.154904816C=CA2466828416F8c.5581G= (p.Asp1861=)
c.5476G= (p.Asp1826=)
Xg.154904816C>GCA414908378F8c.5581G>C (p.Asp1861His)
c.5476G>C (p.Asp1826His)
Xg.154904816C>TCA414908379F8c.5581G>A (p.Asp1861Asn)
c.5476G>A (p.Asp1826Asn)
Xg.154904818_154904820delCA2579744565F8c.5579_5581del (p.Val1860del)
c.5474_5476del (p.Val1825del)
Xg.154904817A>CCA519356763F8c.5580T>G (p.Val1860=)
c.5475T>G (p.Val1825=)
Xg.154904817A>GCA519356765F8c.5580T>C (p.Val1860=)
c.5475T>C (p.Val1825=)
Xg.154904817A>TCA519356768F8c.5580T>A (p.Val1860=)
c.5475T>A (p.Val1825=)
Xg.154904818A=CA2466828417F8c.5579T= (p.Val1860=)
c.5474T= (p.Val1825=)
Xg.154904818A>CCA414908384F8c.5579T>G (p.Val1860Gly)
c.5474T>G (p.Val1825Gly)
Xg.154904818A>GCA414908386F8c.5579T>C (p.Val1860Ala)
c.5474T>C (p.Val1825Ala)
 ClinVar dbSNP
Xg.154904818A>TCA414908388F8c.5579T>A (p.Val1860Asp)
c.5474T>A (p.Val1825Asp)
Xg.154904819C>ACA414908390F8c.5578G>T (p.Val1860Phe)
c.5473G>T (p.Val1825Phe)
Xg.154904819C=CA2466828418F8c.5578G= (p.Val1860=)
c.5473G= (p.Val1825=)
Xg.154904819C>GCA414908392F8c.5578G>C (p.Val1860Leu)
c.5473G>C (p.Val1825Leu)
Xg.154904819C>TCA10567964F8c.5578G>A (p.Val1860Ile)
c.5473G>A (p.Val1825Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904820A>CCA414908394F8c.5577T>G (p.Asp1859Glu)
c.5472T>G (p.Asp1824Glu)
Xg.154904820A>GCA519356781F8c.5577T>C (p.Asp1859=)
c.5472T>C (p.Asp1824=)
Xg.154904820A>TCA414908396F8c.5577T>A (p.Asp1859Glu)
c.5472T>A (p.Asp1824Glu)
Xg.154904821T>ACA414908399F8c.5576A>T (p.Asp1859Val)
c.5471A>T (p.Asp1824Val)
 ClinVar dbSNP
Xg.154904821T>CCA414908400F8c.5576A>G (p.Asp1859Gly)
c.5471A>G (p.Asp1824Gly)
Xg.154904821T>GCA414908401F8c.5576A>C (p.Asp1859Ala)
c.5471A>C (p.Asp1824Ala)
Xg.154904822delCA2695238094F8c.5575del (p.Asp1859MetfsTer12)
c.5470del (p.Asp1824MetfsTer12)
Xg.154904822C>ACA414908403F8c.5575G>T (p.Asp1859Tyr)
c.5470G>T (p.Asp1824Tyr)
Xg.154904822C>GCA414908407F8c.5575G>C (p.Asp1859His)
c.5470G>C (p.Asp1824His)
Xg.154904822C>TCA414908405F8c.5575G>A (p.Asp1859Asn)
c.5470G>A (p.Asp1824Asn)
 COSMIC COSMIC
Xg.154904823delCA2695238096F8c.5574del (p.Asp1859MetfsTer12)
c.5469del (p.Asp1824MetfsTer12)
Xg.154904823A>CCA519356806F8c.5574T>G (p.Ser1858=)
c.5469T>G (p.Ser1823=)
Xg.154904823A>GCA519356808F8c.5574T>C (p.Ser1858=)
c.5469T>C (p.Ser1823=)
 gnomAD v4
Xg.154904823A>TCA519356810F8c.5574T>A (p.Ser1858=)
c.5469T>A (p.Ser1823=)
Xg.154904823dupCA2695238098F8c.5574dup (p.Asp1859Ter)
c.5469dup (p.Asp1824Ter)
Xg.154904826_154904827delCA2695238097F8c.5573_5574del (p.Ser1858Ter)
c.5468_5469del (p.Ser1823Ter)
Xg.154904824G>ACA414908409F8c.5573C>T (p.Ser1858Phe)
c.5468C>T (p.Ser1823Phe)
Xg.154904824G>CCA414908411F8c.5573C>G (p.Ser1858Cys)
c.5468C>G (p.Ser1823Cys)
 gnomAD v4
Xg.154904824G>TCA414908413F8c.5573C>A (p.Ser1858Tyr)
c.5468C>A (p.Ser1823Tyr)
Xg.154904825A>CCA414908416F8c.5572T>G (p.Ser1858Ala)
c.5467T>G (p.Ser1823Ala)
Xg.154904825A>GCA414908417F8c.5572T>C (p.Ser1858Pro)
c.5467T>C (p.Ser1823Pro)
Xg.154904825A>TCA414908419F8c.5572T>A (p.Ser1858Thr)
c.5467T>A (p.Ser1823Thr)
Xg.154904826G>ACA519356829F8c.5571C>T (p.Phe1857=)
c.5466C>T (p.Phe1822=)
 gnomAD v4
Xg.154904826G>CCA414908422F8c.5571C>G (p.Phe1857Leu)
c.5466C>G (p.Phe1822Leu)
Xg.154904826G>TCA414908423F8c.5571C>A (p.Phe1857Leu)
c.5466C>A (p.Phe1822Leu)
 COSMIC COSMIC
Xg.154904827A>CCA414908426F8c.5570T>G (p.Phe1857Cys)
c.5465T>G (p.Phe1822Cys)
Xg.154904827A>GCA414908427F8c.5570T>C (p.Phe1857Ser)
c.5465T>C (p.Phe1822Ser)
Xg.154904827A>TCA414908429F8c.5570T>A (p.Phe1857Tyr)
c.5465T>A (p.Phe1822Tyr)
Xg.154904829_154904832delCA2695238100F8c.5567_5570del (p.Tyr1856SerfsTer14)
c.5462_5465del (p.Tyr1821SerfsTer14)
Xg.154904828A>CCA414908435F8c.5569T>G (p.Phe1857Val)
c.5464T>G (p.Phe1822Val)
 gnomAD v4
Xg.154904828A>GCA414908431F8c.5569T>C (p.Phe1857Leu)
c.5464T>C (p.Phe1822Leu)
Xg.154904828A>TCA414908433F8c.5569T>A (p.Phe1857Ile)
c.5464T>A (p.Phe1822Ile)
Xg.154904829A>CCA414908438F8c.5568T>G (p.Tyr1856Ter)
c.5463T>G (p.Tyr1821Ter)
 COSMIC COSMIC
Xg.154904829A>GCA519356852F8c.5568T>C (p.Tyr1856=)
c.5463T>C (p.Tyr1821=)
Xg.154904829A>TCA414908439F8c.5568T>A (p.Tyr1856Ter)
c.5463T>A (p.Tyr1821Ter)
Xg.154904830T>ACA414908440F8c.5567A>T (p.Tyr1856Phe)
c.5462A>T (p.Tyr1821Phe)
Xg.154904830T>CCA414908442F8c.5567A>G (p.Tyr1856Cys)
c.5462A>G (p.Tyr1821Cys)
Xg.154904830T>GCA414908443F8c.5567A>C (p.Tyr1856Ser)
c.5462A>C (p.Tyr1821Ser)
Xg.154904830_154904833delCA2695238103F8c.5564_5567del (p.Ala1855ValfsTer15)
c.5459_5462del (p.Ala1820ValfsTer15)
Xg.154904831A>CCA414908445F8c.5566T>G (p.Tyr1856Asp)
c.5461T>G (p.Tyr1821Asp)
Xg.154904831A>GCA414908447F8c.5566T>C (p.Tyr1856His)
c.5461T>C (p.Tyr1821His)
Xg.154904831A>TCA414908448F8c.5566T>A (p.Tyr1856Asn)
c.5461T>A (p.Tyr1821Asn)
Xg.154904832A=CA2466828419F8c.5565T= (p.Ala1855=)
c.5460T= (p.Ala1820=)
Xg.154904832A>CCA519356871F8c.5565T>G (p.Ala1855=)
c.5460T>G (p.Ala1820=)
 gnomAD v4 COSMIC COSMIC
Xg.154904832A>GCA519356878F8c.5565T>C (p.Ala1855=)
c.5460T>C (p.Ala1820=)
Xg.154904832A>TCA519356881F8c.5565T>A (p.Ala1855=)
c.5460T>A (p.Ala1820=)
 dbSNP gnomAD v2
Xg.154904833G>ACA414908451F8c.5564C>T (p.Ala1855Val)
c.5459C>T (p.Ala1820Val)
Xg.154904833G>CCA414908453F8c.5564C>G (p.Ala1855Gly)
c.5459C>G (p.Ala1820Gly)
Xg.154904833G>TCA414908455F8c.5564C>A (p.Ala1855Asp)
c.5459C>A (p.Ala1820Asp)
Xg.154904834C>ACA414908458F8c.5563G>T (p.Ala1855Ser)
c.5458G>T (p.Ala1820Ser)
Xg.154904834C>GCA414908461F8c.5563G>C (p.Ala1855Pro)
c.5458G>C (p.Ala1820Pro)
Xg.154904834C>TCA414908457F8c.5563G>A (p.Ala1855Thr)
c.5458G>A (p.Ala1820Thr)
Xg.154904836delCA2579744566F8c.5563del (p.Ala1855LeufsTer16)
c.5458del (p.Ala1820LeufsTer16)
Xg.154904835C>ACA414908463F8c.5562G>T (p.Trp1854Cys)
c.5457G>T (p.Trp1819Cys)
 ClinVar
Xg.154904835C=CA2466828420F8c.5562G= (p.Trp1854=)
c.5457G= (p.Trp1819=)
Xg.154904835C>GCA414908465F8c.5562G>C (p.Trp1854Cys)
c.5457G>C (p.Trp1819Cys)
Xg.154904835C>TCA414908466F8c.5562G>A (p.Trp1854Ter)
c.5457G>A (p.Trp1819Ter)
 dbSNP
Xg.154904836C>ACA414908469F8c.5561G>T (p.Trp1854Leu)
c.5456G>T (p.Trp1819Leu)
 dbSNP
Xg.154904836C=CA2466828421F8c.5561G= (p.Trp1854=)
c.5456G= (p.Trp1819=)
Xg.154904836C>GCA414908470F8c.5561G>C (p.Trp1854Ser)
c.5456G>C (p.Trp1819Ser)
 dbSNP
Xg.154904836C>TCA414908472F8c.5561G>A (p.Trp1854Ter)
c.5456G>A (p.Trp1819Ter)
 ClinVar
Xg.154904837A>CCA414908474F8c.5560T>G (p.Trp1854Gly)
c.5455T>G (p.Trp1819Gly)
Xg.154904837A>GCA414908478F8c.5560T>C (p.Trp1854Arg)
c.5455T>C (p.Trp1819Arg)
Xg.154904837A>TCA414908476F8c.5560T>A (p.Trp1854Arg)
c.5455T>A (p.Trp1819Arg)
Xg.154904838G>ACA10567965F8c.5559C>T (p.Ala1853=)
c.5454C>T (p.Ala1818=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904838G>CCA519356919F8c.5559C>G (p.Ala1853=)
c.5454C>G (p.Ala1818=)
Xg.154904838G=CA2466828422F8c.5559C= (p.Ala1853=)
c.5454C= (p.Ala1818=)
Xg.154904838G>TCA519356918F8c.5559C>A (p.Ala1853=)
c.5454C>A (p.Ala1818=)
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)

Number of alleles fetched