Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154904739T>ACA1138596820F8c.5586+72A>T (n.5586+72A>T)
c.5481+72A>T (n.5481+72A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904739T>CCA2824314875F8c.5586+72A>G (n.5586+72A>G)
c.5481+72A>G (n.5481+72A>G)
Xg.154904739T=CA2466828391F8c.5586+72A= (n.5586+72A=)
c.5481+72A= (n.5481+72A=)
Xg.154904740C>ACA2695168128F8c.5586+71G>T (n.5586+71G>T)
c.5481+71G>T (n.5481+71G>T)
 gnomAD v4
Xg.154904740C=CA2466828392F8c.5586+71G= (n.5586+71G=)
c.5481+71G= (n.5481+71G=)
Xg.154904740C>TCA2466828393F8c.5586+71G>A (n.5586+71G>A)
c.5481+71G>A (n.5481+71G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904742A>TCA2695168129F8c.5586+69T>A (n.5586+69T>A)
c.5481+69T>A (n.5481+69T>A)
 gnomAD v4
Xg.154904743A>CCA658481110F8c.5586+68T>G (n.5586+68T>G)
c.5481+68T>G (n.5481+68T>G)
 COSMIC
Xg.154904745T>ACA2695168130F8c.5586+66A>T (n.5586+66A>T)
c.5481+66A>T (n.5481+66A>T)
 gnomAD v4
Xg.154904747C>TCA2547421765F8c.5586+64G>A (n.5586+64G>A)
c.5481+64G>A (n.5481+64G>A)
Xg.154904749T>ACA2579744553F8c.5586+62A>T (n.5586+62A>T)
c.5481+62A>T (n.5481+62A>T)
Xg.154904750A>GCA2824314876F8c.5586+61T>C (n.5586+61T>C)
c.5481+61T>C (n.5481+61T>C)
Xg.154904750A>TCA2579744554F8c.5586+61T>A (n.5586+61T>A)
c.5481+61T>A (n.5481+61T>A)
Xg.154904750_154904751delinsAGCA2466828394F8c.5586+60_5586+61delinsCT (n.5586+60_5586+61delinsCT)
c.5481+60_5481+61delinsCT (n.5481+60_5481+61delinsCT)
Xg.154904751delCA873341270F8c.5586+60del (n.5586+60del)
c.5481+60del (n.5481+60del)
 dbSNP gnomAD v4
Xg.154904751G>TCA2695168131F8c.5586+60C>A (n.5586+60C>A)
c.5481+60C>A (n.5481+60C>A)
 gnomAD v4
Xg.154904752T>CCA2695168132F8c.5586+59A>G (n.5586+59A>G)
c.5481+59A>G (n.5481+59A>G)
 gnomAD v4
Xg.154904754C>ACA2695168133F8c.5586+57G>T (n.5586+57G>T)
c.5481+57G>T (n.5481+57G>T)
 gnomAD v4
Xg.154904754C=CA2466828395F8c.5586+57G= (n.5586+57G=)
c.5481+57G= (n.5481+57G=)
Xg.154904754C>TCA873341271F8c.5586+57G>A (n.5586+57G>A)
c.5481+57G>A (n.5481+57G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904756C>ACA2695168134F8c.5586+55G>T (n.5586+55G>T)
c.5481+55G>T (n.5481+55G>T)
 gnomAD v4
Xg.154904756C=CA2466828396F8c.5586+55G= (n.5586+55G=)
c.5481+55G= (n.5481+55G=)
Xg.154904756C>TCA873341272F8c.5586+55G>A (n.5586+55G>A)
c.5481+55G>A (n.5481+55G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904757A>CCA2824314877F8c.5586+54T>G (n.5586+54T>G)
c.5481+54T>G (n.5481+54T>G)
Xg.154904758A>CCA2695168135F8c.5586+53T>G (n.5586+53T>G)
c.5481+53T>G (n.5481+53T>G)
 gnomAD v4
Xg.154904758A>GCA2695168136F8c.5586+53T>C (n.5586+53T>C)
c.5481+53T>C (n.5481+53T>C)
 gnomAD v4
Xg.154904760G=CA2466828397F8c.5586+51C= (n.5586+51C=)
c.5481+51C= (n.5481+51C=)
Xg.154904760G>TCA645292782F8c.5586+51C>A (n.5586+51C>A)
c.5481+51C>A (n.5481+51C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904761A=CA2466828398F8c.5586+50T= (n.5586+50T=)
c.5481+50T= (n.5481+50T=)
Xg.154904761A>GCA10567961F8c.5586+50T>C (n.5586+50T>C)
c.5481+50T>C (n.5481+50T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904762C>ACA2824314878F8c.5586+49G>T (n.5586+49G>T)
c.5481+49G>T (n.5481+49G>T)
Xg.154904763delCA1138596828F8c.5586+49del (n.5586+49del)
c.5481+49del (n.5481+49del)
 gnomAD v3 gnomAD v4
Xg.154904764A=CA2466828399F8c.5586+47T= (n.5586+47T=)
c.5481+47T= (n.5481+47T=)
Xg.154904764A>TCA873341273F8c.5586+47T>A (n.5586+47T>A)
c.5481+47T>A (n.5481+47T>A)
 dbSNP
Xg.154904766T>CCA873341274F8c.5586+45A>G (n.5586+45A>G)
c.5481+45A>G (n.5481+45A>G)
 dbSNP gnomAD v4
Xg.154904766T=CA2466828400F8c.5586+45A= (n.5586+45A=)
c.5481+45A= (n.5481+45A=)
Xg.154904769T>CCA2552677669F8c.5586+42A>G (n.5586+42A>G)
c.5481+42A>G (n.5481+42A>G)
Xg.154904772dupCA2579744555F8c.5586+42dup (n.5586+42dup)
c.5481+42dup (n.5481+42dup)
Xg.154904772delCA2695168137F8c.5586+42del (n.5586+42del)
c.5481+42del (n.5481+42del)
 gnomAD v4
Xg.154904771T>CCA2695168138F8c.5586+40A>G (n.5586+40A>G)
c.5481+40A>G (n.5481+40A>G)
 gnomAD v4
Xg.154904772T>CCA1138596834F8c.5586+39A>G (n.5586+39A>G)
c.5481+39A>G (n.5481+39A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904772T=CA2466828401F8c.5586+39A= (n.5586+39A=)
c.5481+39A= (n.5481+39A=)
Xg.154904772_154904773insTACGGCAATATAGAAGGTCGTGATATTACGGAAGGTATTGTGGATGTAGTTGTCTGTGACGGATTCGTAGGAAATGTTATTTTGAAATTCGGCGAGGGTATCGCACTCTTTATCATGCAACTGGTTAAAGCA2530963070F8c.5586+38_5586+39insCTTTAACCAGTTGCATGATAAAGAGTGCGATACCCTCGCCGAATTTCAAAATAACATTTCCTACGAATCCGTCACAGACAACTACATCCACAATACCTTCCGTAATATCACGACCTTCTATATTGCCGTA (n.5586+38_5586+39insCTTTAACCAGTTGCATGATAAAGAGTGCGATACCCTCGCCGAATTTCAAAATAACATTTCCTACGAATCCGTCACAGACAACTACATCCACAATACCTTCCGTAATATCACGACCTTCTATATTGCCGTA)
c.5481+38_5481+39insCTTTAACCAGTTGCATGATAAAGAGTGCGATACCCTCGCCGAATTTCAAAATAACATTTCCTACGAATCCGTCACAGACAACTACATCCACAATACCTTCCGTAATATCACGACCTTCTATATTGCCGTA (n.5481+38_5481+39insCTTTAACCAGTTGCATGATAAAGAGTGCGATACCCTCGCCGAATTTCAAAATAACATTTCCTACGAATCCGTCACAGACAACTACATCCACAATACCTTCCGTAATATCACGACCTTCTATATTGCCGTA)
Xg.154904773A>GCA2579744556F8c.5586+38T>C (n.5586+38T>C)
c.5481+38T>C (n.5481+38T>C)
Xg.154904773A>TCA2579744557F8c.5586+38T>A (n.5586+38T>A)
c.5481+38T>A (n.5481+38T>A)
Xg.154904776C=CA2466828402F8c.5586+35G= (n.5586+35G=)
c.5481+35G= (n.5481+35G=)
Xg.154904776C>TCA10567962F8c.5586+35G>A (n.5586+35G>A)
c.5481+35G>A (n.5481+35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904777C>ACA2695168139F8c.5586+34G>T (n.5586+34G>T)
c.5481+34G>T (n.5481+34G>T)
 gnomAD v4
Xg.154904778A>GCA2695168140F8c.5586+33T>C (n.5586+33T>C)
c.5481+33T>C (n.5481+33T>C)
 gnomAD v4
Xg.154904782delCA2579744558F8c.5586+33del (n.5586+33del)
c.5481+33del (n.5481+33del)
 gnomAD v4
Xg.154904782A=CA2466828403F8c.5586+29T= (n.5586+29T=)
c.5481+29T= (n.5481+29T=)
Xg.154904782A>GCA645292783F8c.5586+29T>C (n.5586+29T>C)
c.5481+29T>C (n.5481+29T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904783G>ACA2695168141F8c.5586+28C>T (n.5586+28C>T)
c.5481+28C>T (n.5481+28C>T)
 gnomAD v4
Xg.154904783G>TCA2579744559F8c.5586+28C>A (n.5586+28C>A)
c.5481+28C>A (n.5481+28C>A)
 gnomAD v4
Xg.154904784T>GCA916079880F8c.5586+27A>C (n.5586+27A>C)
c.5481+27A>C (n.5481+27A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.154904784T=CA2466828404F8c.5586+27A= (n.5586+27A=)
c.5481+27A= (n.5481+27A=)
Xg.154904785G=CA2466828405F8c.5586+26C= (n.5586+26C=)
c.5481+26C= (n.5481+26C=)
Xg.154904785G>TCA337318606F8c.5586+26C>A (n.5586+26C>A)
c.5481+26C>A (n.5481+26C>A)
 dbSNP gnomAD v3 gnomAD v4
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

Number of alleles fetched