Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7119377_7119390delCA2587921194INSRc.3794+59_3794+72del (n.3794+59_3794+72del)
c.3758+59_3758+72del (n.3758+59_3758+72del)
c.3869+59_3869+72del (n.3869+59_3869+72del)
c.3833+59_3833+72del (n.3833+59_3833+72del)
c.3791+59_3791+72del (n.3791+59_3791+72del)
c.3755+59_3755+72del (n.3755+59_3755+72del)
gnomAD v4
19g.7119382_7119389delCA993115415INSRc.3794+61_3794+68del (n.3794+61_3794+68del)
c.3758+61_3758+68del (n.3758+61_3758+68del)
c.3869+61_3869+68del (n.3869+61_3869+68del)
c.3833+61_3833+68del (n.3833+61_3833+68del)
c.3791+61_3791+68del (n.3791+61_3791+68del)
c.3755+61_3755+68del (n.3755+61_3755+68del)
gnomAD v3 gnomAD v4
19g.7119387_7119396delCA2813449897INSRc.3794+53_3794+62del (n.3794+53_3794+62del)
c.3758+53_3758+62del (n.3758+53_3758+62del)
c.3869+53_3869+62del (n.3869+53_3869+62del)
c.3833+53_3833+62del (n.3833+53_3833+62del)
c.3791+53_3791+62del (n.3791+53_3791+62del)
c.3755+53_3755+62del (n.3755+53_3755+62del)
19g.7119389G>TCA2587921199INSRc.3794+60C>A (n.3794+60C>A)
c.3758+60C>A (n.3758+60C>A)
c.3869+60C>A (n.3869+60C>A)
c.3833+60C>A (n.3833+60C>A)
c.3791+60C>A (n.3791+60C>A)
c.3755+60C>A (n.3755+60C>A)
gnomAD v4
19g.7119390_7119391delinsTACA2320764796INSRc.3794+58_3794+59delinsTA (n.3794+58_3794+59delinsTA)
c.3758+58_3758+59delinsTA (n.3758+58_3758+59delinsTA)
c.3869+58_3869+59delinsTA (n.3869+58_3869+59delinsTA)
c.3833+58_3833+59delinsTA (n.3833+58_3833+59delinsTA)
c.3791+58_3791+59delinsTA (n.3791+58_3791+59delinsTA)
c.3755+58_3755+59delinsTA (n.3755+58_3755+59delinsTA)
19g.7119393delCA2320764797INSRc.3794+58del (n.3794+58del)
c.3758+58del (n.3758+58del)
c.3869+58del (n.3869+58del)
c.3833+58del (n.3833+58del)
c.3791+58del (n.3791+58del)
c.3755+58del (n.3755+58del)
dbSNP gnomAD v4
19g.7119393A>CCA2587921200INSRc.3794+56T>G (n.3794+56T>G)
c.3758+56T>G (n.3758+56T>G)
c.3869+56T>G (n.3869+56T>G)
c.3833+56T>G (n.3833+56T>G)
c.3791+56T>G (n.3791+56T>G)
c.3755+56T>G (n.3755+56T>G)
gnomAD v4
19g.7119393A>GCA2587921201INSRc.3794+56T>C (n.3794+56T>C)
c.3758+56T>C (n.3758+56T>C)
c.3869+56T>C (n.3869+56T>C)
c.3833+56T>C (n.3833+56T>C)
c.3791+56T>C (n.3791+56T>C)
c.3755+56T>C (n.3755+56T>C)
gnomAD v4
19g.7119396G>ACA884176711INSRc.3794+53C>T (n.3794+53C>T)
c.3758+53C>T (n.3758+53C>T)
c.3869+53C>T (n.3869+53C>T)
c.3833+53C>T (n.3833+53C>T)
c.3791+53C>T (n.3791+53C>T)
c.3755+53C>T (n.3755+53C>T)
dbSNP
19g.7119396G=CA2320764798INSRc.3794+53C= (n.3794+53C=)
c.3758+53C= (n.3758+53C=)
c.3869+53C= (n.3869+53C=)
c.3833+53C= (n.3833+53C=)
c.3791+53C= (n.3791+53C=)
c.3755+53C= (n.3755+53C=)
19g.7119397C>ACA631692588INSRc.3794+52G>T (n.3794+52G>T)
c.3758+52G>T (n.3758+52G>T)
c.3869+52G>T (n.3869+52G>T)
c.3833+52G>T (n.3833+52G>T)
c.3791+52G>T (n.3791+52G>T)
c.3755+52G>T (n.3755+52G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7119397C=CA2320764799INSRc.3794+52G= (n.3794+52G=)
c.3758+52G= (n.3758+52G=)
c.3869+52G= (n.3869+52G=)
c.3833+52G= (n.3833+52G=)
c.3791+52G= (n.3791+52G=)
c.3755+52G= (n.3755+52G=)
19g.7119397C>TCA631692587INSRc.3794+52G>A (n.3794+52G>A)
c.3758+52G>A (n.3758+52G>A)
c.3869+52G>A (n.3869+52G>A)
c.3833+52G>A (n.3833+52G>A)
c.3791+52G>A (n.3791+52G>A)
c.3755+52G>A (n.3755+52G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7119398A=CA2320764801INSRc.3794+51T= (n.3794+51T=)
c.3758+51T= (n.3758+51T=)
c.3869+51T= (n.3869+51T=)
c.3833+51T= (n.3833+51T=)
c.3791+51T= (n.3791+51T=)
c.3755+51T= (n.3755+51T=)
19g.7119398A>GCA2320764800INSRc.3794+51T>C (n.3794+51T>C)
c.3758+51T>C (n.3758+51T>C)
c.3869+51T>C (n.3869+51T>C)
c.3833+51T>C (n.3833+51T>C)
c.3791+51T>C (n.3791+51T>C)
c.3755+51T>C (n.3755+51T>C)
dbSNP gnomAD v4
19g.7119399A>CCA2587921202INSRc.3794+50T>G (n.3794+50T>G)
c.3758+50T>G (n.3758+50T>G)
c.3869+50T>G (n.3869+50T>G)
c.3833+50T>G (n.3833+50T>G)
c.3791+50T>G (n.3791+50T>G)
c.3755+50T>G (n.3755+50T>G)
gnomAD v4
19g.7119399A>TCA2576594927INSRc.3794+50T>A (n.3794+50T>A)
c.3758+50T>A (n.3758+50T>A)
c.3869+50T>A (n.3869+50T>A)
c.3833+50T>A (n.3833+50T>A)
c.3791+50T>A (n.3791+50T>A)
c.3755+50T>A (n.3755+50T>A)
19g.7119401A>GCA2576594928INSRc.3794+48T>C (n.3794+48T>C)
c.3758+48T>C (n.3758+48T>C)
c.3869+48T>C (n.3869+48T>C)
c.3833+48T>C (n.3833+48T>C)
c.3791+48T>C (n.3791+48T>C)
c.3755+48T>C (n.3755+48T>C)
19g.7119401_7119402delinsACCA2320764802INSRc.3794+47_3794+48delinsGT (n.3794+47_3794+48delinsGT)
c.3758+47_3758+48delinsGT (n.3758+47_3758+48delinsGT)
c.3869+47_3869+48delinsGT (n.3869+47_3869+48delinsGT)
c.3833+47_3833+48delinsGT (n.3833+47_3833+48delinsGT)
c.3791+47_3791+48delinsGT (n.3791+47_3791+48delinsGT)
c.3755+47_3755+48delinsGT (n.3755+47_3755+48delinsGT)
19g.7119402C>ACA9135148INSRc.3794+47G>T (n.3794+47G>T)
c.3758+47G>T (n.3758+47G>T)
c.3869+47G>T (n.3869+47G>T)
c.3833+47G>T (n.3833+47G>T)
c.3791+47G>T (n.3791+47G>T)
c.3755+47G>T (n.3755+47G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7119402C=CA2320764803INSRc.3794+47G= (n.3794+47G=)
c.3758+47G= (n.3758+47G=)
c.3869+47G= (n.3869+47G=)
c.3833+47G= (n.3833+47G=)
c.3791+47G= (n.3791+47G=)
c.3755+47G= (n.3755+47G=)
19g.7119402C>TCA2320764804INSRc.3794+47G>A (n.3794+47G>A)
c.3758+47G>A (n.3758+47G>A)
c.3869+47G>A (n.3869+47G>A)
c.3833+47G>A (n.3833+47G>A)
c.3791+47G>A (n.3791+47G>A)
c.3755+47G>A (n.3755+47G>A)
dbSNP
19g.7119404delCA9135147INSRc.3794+47del (n.3794+47del)
c.3758+47del (n.3758+47del)
c.3869+47del (n.3869+47del)
c.3833+47del (n.3833+47del)
c.3791+47del (n.3791+47del)
c.3755+47del (n.3755+47del)
dbSNP ExAC gnomAD v2
19g.7119405T>CCA2576594929INSRc.3794+44A>G (n.3794+44A>G)
c.3758+44A>G (n.3758+44A>G)
c.3869+44A>G (n.3869+44A>G)
c.3833+44A>G (n.3833+44A>G)
c.3791+44A>G (n.3791+44A>G)
c.3755+44A>G (n.3755+44A>G)
19g.7119407T>CCA2735472094INSRc.3794+42A>G (n.3794+42A>G)
c.3758+42A>G (n.3758+42A>G)
c.3869+42A>G (n.3869+42A>G)
c.3833+42A>G (n.3833+42A>G)
c.3791+42A>G (n.3791+42A>G)
c.3755+42A>G (n.3755+42A>G)
dbSNP
19g.7119409A>GCA2735472096INSRc.3794+40T>C (n.3794+40T>C)
c.3758+40T>C (n.3758+40T>C)
c.3869+40T>C (n.3869+40T>C)
c.3833+40T>C (n.3833+40T>C)
c.3791+40T>C (n.3791+40T>C)
c.3755+40T>C (n.3755+40T>C)
dbSNP
19g.7119410A>GCA2576594930INSRc.3794+39T>C (n.3794+39T>C)
c.3758+39T>C (n.3758+39T>C)
c.3869+39T>C (n.3869+39T>C)
c.3833+39T>C (n.3833+39T>C)
c.3791+39T>C (n.3791+39T>C)
c.3755+39T>C (n.3755+39T>C)
19g.7119411C=CA2320764805INSRc.3794+38G= (n.3794+38G=)
c.3758+38G= (n.3758+38G=)
c.3869+38G= (n.3869+38G=)
c.3833+38G= (n.3833+38G=)
c.3791+38G= (n.3791+38G=)
c.3755+38G= (n.3755+38G=)
19g.7119411C>TCA9135149INSRc.3794+38G>A (n.3794+38G>A)
c.3758+38G>A (n.3758+38G>A)
c.3869+38G>A (n.3869+38G>A)
c.3833+38G>A (n.3833+38G>A)
c.3791+38G>A (n.3791+38G>A)
c.3755+38G>A (n.3755+38G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7119412G>ACA631692589INSRc.3794+37C>T (n.3794+37C>T)
c.3758+37C>T (n.3758+37C>T)
c.3869+37C>T (n.3869+37C>T)
c.3833+37C>T (n.3833+37C>T)
c.3791+37C>T (n.3791+37C>T)
c.3755+37C>T (n.3755+37C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7119412G=CA2320764806INSRc.3794+37C= (n.3794+37C=)
c.3758+37C= (n.3758+37C=)
c.3869+37C= (n.3869+37C=)
c.3833+37C= (n.3833+37C=)
c.3791+37C= (n.3791+37C=)
c.3755+37C= (n.3755+37C=)
19g.7119412G>TCA2587921203INSRc.3794+37C>A (n.3794+37C>A)
c.3758+37C>A (n.3758+37C>A)
c.3869+37C>A (n.3869+37C>A)
c.3833+37C>A (n.3833+37C>A)
c.3791+37C>A (n.3791+37C>A)
c.3755+37C>A (n.3755+37C>A)
gnomAD v4
19g.7119413A=CA2320764807INSRc.3794+36T= (n.3794+36T=)
c.3758+36T= (n.3758+36T=)
c.3869+36T= (n.3869+36T=)
c.3833+36T= (n.3833+36T=)
c.3791+36T= (n.3791+36T=)
c.3755+36T= (n.3755+36T=)
19g.7119413A>CCA9135150INSRc.3794+36T>G (n.3794+36T>G)
c.3758+36T>G (n.3758+36T>G)
c.3869+36T>G (n.3869+36T>G)
c.3833+36T>G (n.3833+36T>G)
c.3791+36T>G (n.3791+36T>G)
c.3755+36T>G (n.3755+36T>G)
dbSNP ExAC gnomAD v2
19g.7119414A>TCA2587921204INSRc.3794+35T>A (n.3794+35T>A)
c.3758+35T>A (n.3758+35T>A)
c.3869+35T>A (n.3869+35T>A)
c.3833+35T>A (n.3833+35T>A)
c.3791+35T>A (n.3791+35T>A)
c.3755+35T>A (n.3755+35T>A)
gnomAD v4
19g.7119415C>ACA2576594931INSRc.3794+34G>T (n.3794+34G>T)
c.3758+34G>T (n.3758+34G>T)
c.3869+34G>T (n.3869+34G>T)
c.3833+34G>T (n.3833+34G>T)
c.3791+34G>T (n.3791+34G>T)
c.3755+34G>T (n.3755+34G>T)
gnomAD v4
19g.7119417C=CA2320764808INSRc.3794+32G= (n.3794+32G=)
c.3758+32G= (n.3758+32G=)
c.3869+32G= (n.3869+32G=)
c.3833+32G= (n.3833+32G=)
c.3791+32G= (n.3791+32G=)
c.3755+32G= (n.3755+32G=)
19g.7119417C>TCA993115437INSRc.3794+32G>A (n.3794+32G>A)
c.3758+32G>A (n.3758+32G>A)
c.3869+32G>A (n.3869+32G>A)
c.3833+32G>A (n.3833+32G>A)
c.3791+32G>A (n.3791+32G>A)
c.3755+32G>A (n.3755+32G>A)
dbSNP gnomAD v3 gnomAD v4
19g.7119418C>ACA2587921205INSRc.3794+31G>T (n.3794+31G>T)
c.3758+31G>T (n.3758+31G>T)
c.3869+31G>T (n.3869+31G>T)
c.3833+31G>T (n.3833+31G>T)
c.3791+31G>T (n.3791+31G>T)
c.3755+31G>T (n.3755+31G>T)
gnomAD v4
19g.7119418C=CA2320764809INSRc.3794+31G= (n.3794+31G=)
c.3758+31G= (n.3758+31G=)
c.3869+31G= (n.3869+31G=)
c.3833+31G= (n.3833+31G=)
c.3791+31G= (n.3791+31G=)
c.3755+31G= (n.3755+31G=)
19g.7119418C>GCA2576594932INSRc.3794+31G>C (n.3794+31G>C)
c.3758+31G>C (n.3758+31G>C)
c.3869+31G>C (n.3869+31G>C)
c.3833+31G>C (n.3833+31G>C)
c.3791+31G>C (n.3791+31G>C)
c.3755+31G>C (n.3755+31G>C)
19g.7119418C>TCA304868026INSRc.3794+31G>A (n.3794+31G>A)
c.3758+31G>A (n.3758+31G>A)
c.3869+31G>A (n.3869+31G>A)
c.3833+31G>A (n.3833+31G>A)
c.3791+31G>A (n.3791+31G>A)
c.3755+31G>A (n.3755+31G>A)
dbSNP
19g.7119419T>GCA304868035INSRc.3794+30A>C (n.3794+30A>C)
c.3758+30A>C (n.3758+30A>C)
c.3869+30A>C (n.3869+30A>C)
c.3833+30A>C (n.3833+30A>C)
c.3791+30A>C (n.3791+30A>C)
c.3755+30A>C (n.3755+30A>C)
dbSNP gnomAD v3 gnomAD v4
19g.7119419T=CA2320764810INSRc.3794+30A= (n.3794+30A=)
c.3758+30A= (n.3758+30A=)
c.3869+30A= (n.3869+30A=)
c.3833+30A= (n.3833+30A=)
c.3791+30A= (n.3791+30A=)
c.3755+30A= (n.3755+30A=)
19g.7119420C>TCA2587921206INSRc.3794+29G>A (n.3794+29G>A)
c.3758+29G>A (n.3758+29G>A)
c.3869+29G>A (n.3869+29G>A)
c.3833+29G>A (n.3833+29G>A)
c.3791+29G>A (n.3791+29G>A)
c.3755+29G>A (n.3755+29G>A)
gnomAD v4
19g.7119424C>ACA2587921207INSRc.3794+25G>T (n.3794+25G>T)
c.3758+25G>T (n.3758+25G>T)
c.3869+25G>T (n.3869+25G>T)
c.3833+25G>T (n.3833+25G>T)
c.3791+25G>T (n.3791+25G>T)
c.3755+25G>T (n.3755+25G>T)
gnomAD v4
19g.7119424C=CA2320764811INSRc.3794+25G= (n.3794+25G=)
c.3758+25G= (n.3758+25G=)
c.3869+25G= (n.3869+25G=)
c.3833+25G= (n.3833+25G=)
c.3791+25G= (n.3791+25G=)
c.3755+25G= (n.3755+25G=)
19g.7119424C>TCA884171798INSRc.3794+25G>A (n.3794+25G>A)
c.3758+25G>A (n.3758+25G>A)
c.3869+25G>A (n.3869+25G>A)
c.3833+25G>A (n.3833+25G>A)
c.3791+25G>A (n.3791+25G>A)
c.3755+25G>A (n.3755+25G>A)
dbSNP gnomAD v3 gnomAD v4
19g.7119426C>ACA304868045INSRc.3794+23G>T (n.3794+23G>T)
c.3758+23G>T (n.3758+23G>T)
c.3869+23G>T (n.3869+23G>T)
c.3833+23G>T (n.3833+23G>T)
c.3791+23G>T (n.3791+23G>T)
c.3755+23G>T (n.3755+23G>T)
dbSNP
19g.7119426C=CA2320764812INSRc.3794+23G= (n.3794+23G=)
c.3758+23G= (n.3758+23G=)
c.3869+23G= (n.3869+23G=)
c.3833+23G= (n.3833+23G=)
c.3791+23G= (n.3791+23G=)
c.3755+23G= (n.3755+23G=)
19g.7119426C>TCA2587921208INSRc.3794+23G>A (n.3794+23G>A)
c.3758+23G>A (n.3758+23G>A)
c.3869+23G>A (n.3869+23G>A)
c.3833+23G>A (n.3833+23G>A)
c.3791+23G>A (n.3791+23G>A)
c.3755+23G>A (n.3755+23G>A)
gnomAD v4
19g.7119427C=CA2320764813INSRc.3794+22G= (n.3794+22G=)
c.3758+22G= (n.3758+22G=)
c.3869+22G= (n.3869+22G=)
c.3833+22G= (n.3833+22G=)
c.3791+22G= (n.3791+22G=)
c.3755+22G= (n.3755+22G=)
19g.7119427C>TCA631692590INSRc.3794+22G>A (n.3794+22G>A)
c.3758+22G>A (n.3758+22G>A)
c.3869+22G>A (n.3869+22G>A)
c.3833+22G>A (n.3833+22G>A)
c.3791+22G>A (n.3791+22G>A)
c.3755+22G>A (n.3755+22G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7119432delCA2587921209INSRc.3794+19del (n.3794+19del)
c.3758+19del (n.3758+19del)
c.3869+19del (n.3869+19del)
c.3833+19del (n.3833+19del)
c.3791+19del (n.3791+19del)
c.3755+19del (n.3755+19del)
gnomAD v4
19g.7119433C>ACA631692591INSRc.3794+16G>T (n.3794+16G>T)
c.3758+16G>T (n.3758+16G>T)
c.3869+16G>T (n.3869+16G>T)
c.3833+16G>T (n.3833+16G>T)
c.3791+16G>T (n.3791+16G>T)
c.3755+16G>T (n.3755+16G>T)
dbSNP gnomAD v2 gnomAD v4
19g.7119433C=CA2320764814INSRc.3794+16G= (n.3794+16G=)
c.3758+16G= (n.3758+16G=)
c.3869+16G= (n.3869+16G=)
c.3833+16G= (n.3833+16G=)
c.3791+16G= (n.3791+16G=)
c.3755+16G= (n.3755+16G=)
19g.7119433C>GCA2813449899INSRc.3794+16G>C (n.3794+16G>C)
c.3758+16G>C (n.3758+16G>C)
c.3869+16G>C (n.3869+16G>C)
c.3833+16G>C (n.3833+16G>C)
c.3791+16G>C (n.3791+16G>C)
c.3755+16G>C (n.3755+16G>C)
19g.7119434C>ACA2587921210INSRc.3794+15G>T (n.3794+15G>T)
c.3758+15G>T (n.3758+15G>T)
c.3869+15G>T (n.3869+15G>T)
c.3833+15G>T (n.3833+15G>T)
c.3791+15G>T (n.3791+15G>T)
c.3755+15G>T (n.3755+15G>T)
gnomAD v4
19g.7119434C=CA2320764815INSRc.3794+15G= (n.3794+15G=)
c.3758+15G= (n.3758+15G=)
c.3869+15G= (n.3869+15G=)
c.3833+15G= (n.3833+15G=)
c.3791+15G= (n.3791+15G=)
c.3755+15G= (n.3755+15G=)
19g.7119434C>GCA9135151INSRc.3794+15G>C (n.3794+15G>C)
c.3758+15G>C (n.3758+15G>C)
c.3869+15G>C (n.3869+15G>C)
c.3833+15G>C (n.3833+15G>C)
c.3791+15G>C (n.3791+15G>C)
c.3755+15G>C (n.3755+15G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7119435C>ACA2531164564INSRc.3794+14G>T (n.3794+14G>T)
c.3758+14G>T (n.3758+14G>T)
c.3869+14G>T (n.3869+14G>T)
c.3833+14G>T (n.3833+14G>T)
c.3791+14G>T (n.3791+14G>T)
c.3755+14G>T (n.3755+14G>T)
19g.7119435C=CA2320764816INSRc.3794+14G= (n.3794+14G=)
c.3758+14G= (n.3758+14G=)
c.3869+14G= (n.3869+14G=)
c.3833+14G= (n.3833+14G=)
c.3791+14G= (n.3791+14G=)
c.3755+14G= (n.3755+14G=)
19g.7119435C>GCA2582314100INSRc.3794+14G>C (n.3794+14G>C)
c.3758+14G>C (n.3758+14G>C)
c.3869+14G>C (n.3869+14G>C)
c.3833+14G>C (n.3833+14G>C)
c.3791+14G>C (n.3791+14G>C)
c.3755+14G>C (n.3755+14G>C)
gnomAD v3 gnomAD v4
19g.7119435C>TCA2320764817INSRc.3794+14G>A (n.3794+14G>A)
c.3758+14G>A (n.3758+14G>A)
c.3869+14G>A (n.3869+14G>A)
c.3833+14G>A (n.3833+14G>A)
c.3791+14G>A (n.3791+14G>A)
c.3755+14G>A (n.3755+14G>A)
dbSNP
19g.7119436T>ACA884171806INSRc.3794+13A>T (n.3794+13A>T)
c.3758+13A>T (n.3758+13A>T)
c.3869+13A>T (n.3869+13A>T)
c.3833+13A>T (n.3833+13A>T)
c.3791+13A>T (n.3791+13A>T)
c.3755+13A>T (n.3755+13A>T)
dbSNP gnomAD v3 gnomAD v4
19g.7119436T>CCA9135152INSRc.3794+13A>G (n.3794+13A>G)
c.3758+13A>G (n.3758+13A>G)
c.3869+13A>G (n.3869+13A>G)
c.3833+13A>G (n.3833+13A>G)
c.3791+13A>G (n.3791+13A>G)
c.3755+13A>G (n.3755+13A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7119436T=CA2320764818INSRc.3794+13A= (n.3794+13A=)
c.3758+13A= (n.3758+13A=)
c.3869+13A= (n.3869+13A=)
c.3833+13A= (n.3833+13A=)
c.3791+13A= (n.3791+13A=)
c.3755+13A= (n.3755+13A=)
19g.7119439C=CA2320764819INSRc.3794+10G= (n.3794+10G=)
c.3758+10G= (n.3758+10G=)
c.3869+10G= (n.3869+10G=)
c.3833+10G= (n.3833+10G=)
c.3791+10G= (n.3791+10G=)
c.3755+10G= (n.3755+10G=)
19g.7119439_7119440insACA631692592INSRc.3794+9_3794+10insT (n.3794+9_3794+10insT)
c.3758+9_3758+10insT (n.3758+9_3758+10insT)
c.3869+9_3869+10insT (n.3869+9_3869+10insT)
c.3833+9_3833+10insT (n.3833+9_3833+10insT)
c.3791+9_3791+10insT (n.3791+9_3791+10insT)
c.3755+9_3755+10insT (n.3755+9_3755+10insT)
dbSNP gnomAD v2 gnomAD v4
19g.7119440T>ACA631692593INSRc.3794+9A>T (n.3794+9A>T)
c.3758+9A>T (n.3758+9A>T)
c.3869+9A>T (n.3869+9A>T)
c.3833+9A>T (n.3833+9A>T)
c.3791+9A>T (n.3791+9A>T)
c.3755+9A>T (n.3755+9A>T)
dbSNP gnomAD v2 gnomAD v4
19g.7119440T>CCA2587921211INSRc.3794+9A>G (n.3794+9A>G)
c.3758+9A>G (n.3758+9A>G)
c.3869+9A>G (n.3869+9A>G)
c.3833+9A>G (n.3833+9A>G)
c.3791+9A>G (n.3791+9A>G)
c.3755+9A>G (n.3755+9A>G)
gnomAD v4
19g.7119440T=CA2320764820INSRc.3794+9A= (n.3794+9A=)
c.3758+9A= (n.3758+9A=)
c.3869+9A= (n.3869+9A=)
c.3833+9A= (n.3833+9A=)
c.3791+9A= (n.3791+9A=)
c.3755+9A= (n.3755+9A=)
19g.7119441A=CA2320764821INSRc.3794+8T= (n.3794+8T=)
c.3758+8T= (n.3758+8T=)
c.3869+8T= (n.3869+8T=)
c.3833+8T= (n.3833+8T=)
c.3791+8T= (n.3791+8T=)
c.3755+8T= (n.3755+8T=)
19g.7119441A>GCA9135153INSRc.3794+8T>C (n.3794+8T>C)
c.3758+8T>C (n.3758+8T>C)
c.3869+8T>C (n.3869+8T>C)
c.3833+8T>C (n.3833+8T>C)
c.3791+8T>C (n.3791+8T>C)
c.3755+8T>C (n.3755+8T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7119442C=CA2320764822INSRc.3794+7G= (n.3794+7G=)
c.3758+7G= (n.3758+7G=)
c.3869+7G= (n.3869+7G=)
c.3833+7G= (n.3833+7G=)
c.3791+7G= (n.3791+7G=)
c.3755+7G= (n.3755+7G=)
19g.7119442C>TCA9135154INSRc.3794+7G>A (n.3794+7G>A)
c.3758+7G>A (n.3758+7G>A)
c.3869+7G>A (n.3869+7G>A)
c.3833+7G>A (n.3833+7G>A)
c.3791+7G>A (n.3791+7G>A)
c.3755+7G>A (n.3755+7G>A)
dbSNP ExAC gnomAD v4
19g.7119443A>GCA2587921212INSRc.3794+6T>C (n.3794+6T>C)
c.3758+6T>C (n.3758+6T>C)
c.3869+6T>C (n.3869+6T>C)
c.3833+6T>C (n.3833+6T>C)
c.3791+6T>C (n.3791+6T>C)
c.3755+6T>C (n.3755+6T>C)
gnomAD v4
19g.7119447A>CCA403668987INSRc.3794+2T>G (n.3794+2T>G)
c.3758+2T>G (n.3758+2T>G)
c.3869+2T>G (n.3869+2T>G)
c.3833+2T>G (n.3833+2T>G)
c.3791+2T>G (n.3791+2T>G)
c.3755+2T>G (n.3755+2T>G)
19g.7119447A>GCA403668988INSRc.3794+2T>C (n.3794+2T>C)
c.3758+2T>C (n.3758+2T>C)
c.3869+2T>C (n.3869+2T>C)
c.3833+2T>C (n.3833+2T>C)
c.3791+2T>C (n.3791+2T>C)
c.3755+2T>C (n.3755+2T>C)
19g.7119447A>TCA403668989INSRc.3794+2T>A (n.3794+2T>A)
c.3758+2T>A (n.3758+2T>A)
c.3869+2T>A (n.3869+2T>A)
c.3833+2T>A (n.3833+2T>A)
c.3791+2T>A (n.3791+2T>A)
c.3755+2T>A (n.3755+2T>A)
19g.7119447dupCA2587921213INSRc.3794+2dup (n.3794+2dup)
c.3758+2dup (n.3758+2dup)
c.3869+2dup (n.3869+2dup)
c.3833+2dup (n.3833+2dup)
c.3791+2dup (n.3791+2dup)
c.3755+2dup (n.3755+2dup)
gnomAD v4
19g.7119448C>ACA403668990INSRc.3794+1G>T (n.3794+1G>T)
c.3758+1G>T (n.3758+1G>T)
c.3869+1G>T (n.3869+1G>T)
c.3833+1G>T (n.3833+1G>T)
c.3791+1G>T (n.3791+1G>T)
c.3755+1G>T (n.3755+1G>T)
19g.7119448C>GCA403668991INSRc.3794+1G>C (n.3794+1G>C)
c.3758+1G>C (n.3758+1G>C)
c.3869+1G>C (n.3869+1G>C)
c.3833+1G>C (n.3833+1G>C)
c.3791+1G>C (n.3791+1G>C)
c.3755+1G>C (n.3755+1G>C)
19g.7119448C>TCA403668992INSRc.3794+1G>A (n.3794+1G>A)
c.3758+1G>A (n.3758+1G>A)
c.3869+1G>A (n.3869+1G>A)
c.3833+1G>A (n.3833+1G>A)
c.3791+1G>A (n.3791+1G>A)
c.3755+1G>A (n.3755+1G>A)
19g.7119449A>CCA403668995INSRc.3794T>G (p.Val1265Gly)
c.3758T>G (p.Val1253Gly)
c.3869T>G (p.Val1290Gly)
c.3833T>G (p.Val1278Gly)
c.3791T>G (p.Val1264Gly)
c.3755T>G (p.Val1252Gly)
19g.7119449A>GCA403668993INSRc.3794T>C (p.Val1265Ala)
c.3758T>C (p.Val1253Ala)
c.3869T>C (p.Val1290Ala)
c.3833T>C (p.Val1278Ala)
c.3791T>C (p.Val1264Ala)
c.3755T>C (p.Val1252Ala)
19g.7119449A>TCA403668994INSRc.3794T>A (p.Val1265Asp)
c.3758T>A (p.Val1253Asp)
c.3869T>A (p.Val1290Asp)
c.3833T>A (p.Val1278Asp)
c.3791T>A (p.Val1264Asp)
c.3755T>A (p.Val1252Asp)
19g.7119450C>ACA403668996INSRc.3793G>T (p.Val1265Phe)
c.3757G>T (p.Val1253Phe)
c.3868G>T (p.Val1290Phe)
c.3832G>T (p.Val1278Phe)
c.3790G>T (p.Val1264Phe)
c.3754G>T (p.Val1252Phe)
gnomAD v4
19g.7119450C>GCA403668997INSRc.3793G>C (p.Val1265Leu)
c.3757G>C (p.Val1253Leu)
c.3868G>C (p.Val1290Leu)
c.3832G>C (p.Val1278Leu)
c.3790G>C (p.Val1264Leu)
c.3754G>C (p.Val1252Leu)
19g.7119450C>TCA403668998INSRc.3793G>A (p.Val1265Ile)
c.3757G>A (p.Val1253Ile)
c.3868G>A (p.Val1290Ile)
c.3832G>A (p.Val1278Ile)
c.3790G>A (p.Val1264Ile)
c.3754G>A (p.Val1252Ile)
19g.7119451T>ACA403668999INSRc.3792A>T (p.Arg1264Ser)
c.3756A>T (p.Arg1252Ser)
c.3867A>T (p.Arg1289Ser)
c.3831A>T (p.Arg1277Ser)
c.3789A>T (p.Arg1263Ser)
c.3753A>T (p.Arg1251Ser)
19g.7119451T>CCA505216407INSRc.3792A>G (p.Arg1264=)
c.3756A>G (p.Arg1252=)
c.3867A>G (p.Arg1289=)
c.3831A>G (p.Arg1277=)
c.3789A>G (p.Arg1263=)
c.3753A>G (p.Arg1251=)
19g.7119451T>GCA403669000INSRc.3792A>C (p.Arg1264Ser)
c.3756A>C (p.Arg1252Ser)
c.3867A>C (p.Arg1289Ser)
c.3831A>C (p.Arg1277Ser)
c.3789A>C (p.Arg1263Ser)
c.3753A>C (p.Arg1251Ser)
gnomAD v4
19g.7119452C>ACA403669001INSRc.3791G>T (p.Arg1264Ile)
c.3755G>T (p.Arg1252Ile)
c.3866G>T (p.Arg1289Ile)
c.3830G>T (p.Arg1277Ile)
c.3788G>T (p.Arg1263Ile)
c.3752G>T (p.Arg1251Ile)
19g.7119452C=CA2320764823INSRc.3791G= (p.Arg1264=)
c.3755G= (p.Arg1252=)
c.3866G= (p.Arg1289=)
c.3830G= (p.Arg1277=)
c.3788G= (p.Arg1263=)
c.3752G= (p.Arg1251=)
19g.7119452C>GCA403669002INSRc.3791G>C (p.Arg1264Thr)
c.3755G>C (p.Arg1252Thr)
c.3866G>C (p.Arg1289Thr)
c.3830G>C (p.Arg1277Thr)
c.3788G>C (p.Arg1263Thr)
c.3752G>C (p.Arg1251Thr)
dbSNP
19g.7119452C>TCA403669003INSRc.3791G>A (p.Arg1264Lys)
c.3755G>A (p.Arg1252Lys)
c.3866G>A (p.Arg1289Lys)
c.3830G>A (p.Arg1277Lys)
c.3788G>A (p.Arg1263Lys)
c.3752G>A (p.Arg1251Lys)
gnomAD v4
19g.7119453T>ACA403669004INSRc.3790A>T (p.Arg1264Ter)
c.3754A>T (p.Arg1252Ter)
c.3865A>T (p.Arg1289Ter)
c.3829A>T (p.Arg1277Ter)
c.3787A>T (p.Arg1263Ter)
c.3751A>T (p.Arg1251Ter)
19g.7119453T>CCA403669005INSRc.3790A>G (p.Arg1264Gly)
c.3754A>G (p.Arg1252Gly)
c.3865A>G (p.Arg1289Gly)
c.3829A>G (p.Arg1277Gly)
c.3787A>G (p.Arg1263Gly)
c.3751A>G (p.Arg1251Gly)
19g.7119453T>GCA505216411INSRc.3790A>C (p.Arg1264=)
c.3754A>C (p.Arg1252=)
c.3865A>C (p.Arg1289=)
c.3829A>C (p.Arg1277=)
c.3787A>C (p.Arg1263=)
c.3751A>C (p.Arg1251=)
19g.7119454C>ACA403669006INSRc.3789G>T (p.Glu1263Asp)
c.3753G>T (p.Glu1251Asp)
c.3864G>T (p.Glu1288Asp)
c.3828G>T (p.Glu1276Asp)
c.3786G>T (p.Glu1262Asp)
c.3750G>T (p.Glu1250Asp)
19g.7119454C>GCA403669007INSRc.3789G>C (p.Glu1263Asp)
c.3753G>C (p.Glu1251Asp)
c.3864G>C (p.Glu1288Asp)
c.3828G>C (p.Glu1276Asp)
c.3786G>C (p.Glu1262Asp)
c.3750G>C (p.Glu1250Asp)
gnomAD v4
19g.7119454C>TCA505216415INSRc.3789G>A (p.Glu1263=)
c.3753G>A (p.Glu1251=)
c.3864G>A (p.Glu1288=)
c.3828G>A (p.Glu1276=)
c.3786G>A (p.Glu1262=)
c.3750G>A (p.Glu1250=)
19g.7119455T>ACA403669008INSRc.3788A>T (p.Glu1263Val)
c.3752A>T (p.Glu1251Val)
c.3863A>T (p.Glu1288Val)
c.3827A>T (p.Glu1276Val)
c.3785A>T (p.Glu1262Val)
c.3749A>T (p.Glu1250Val)
19g.7119455T>CCA403669010INSRc.3788A>G (p.Glu1263Gly)
c.3752A>G (p.Glu1251Gly)
c.3863A>G (p.Glu1288Gly)
c.3827A>G (p.Glu1276Gly)
c.3785A>G (p.Glu1262Gly)
c.3749A>G (p.Glu1250Gly)
19g.7119455T>GCA403669009INSRc.3788A>C (p.Glu1263Ala)
c.3752A>C (p.Glu1251Ala)
c.3863A>C (p.Glu1288Ala)
c.3827A>C (p.Glu1276Ala)
c.3785A>C (p.Glu1262Ala)
c.3749A>C (p.Glu1250Ala)
19g.7119456C>ACA403669011INSRc.3787G>T (p.Glu1263Ter)
c.3751G>T (p.Glu1251Ter)
c.3862G>T (p.Glu1288Ter)
c.3826G>T (p.Glu1276Ter)
c.3784G>T (p.Glu1262Ter)
c.3748G>T (p.Glu1250Ter)
19g.7119456C>GCA403669012INSRc.3787G>C (p.Glu1263Gln)
c.3751G>C (p.Glu1251Gln)
c.3862G>C (p.Glu1288Gln)
c.3826G>C (p.Glu1276Gln)
c.3784G>C (p.Glu1262Gln)
c.3748G>C (p.Glu1250Gln)
19g.7119456C>TCA403669013INSRc.3787G>A (p.Glu1263Lys)
c.3751G>A (p.Glu1251Lys)
c.3862G>A (p.Glu1288Lys)
c.3826G>A (p.Glu1276Lys)
c.3784G>A (p.Glu1262Lys)
c.3748G>A (p.Glu1250Lys)
19g.7119457T>ACA505216420INSRc.3786A>T (p.Pro1262=)
c.3750A>T (p.Pro1250=)
c.3861A>T (p.Pro1287=)
c.3825A>T (p.Pro1275=)
c.3783A>T (p.Pro1261=)
c.3747A>T (p.Pro1249=)
19g.7119457T>CCA505216419INSRc.3786A>G (p.Pro1262=)
c.3750A>G (p.Pro1250=)
c.3861A>G (p.Pro1287=)
c.3825A>G (p.Pro1275=)
c.3783A>G (p.Pro1261=)
c.3747A>G (p.Pro1249=)
19g.7119457T>GCA505216418INSRc.3786A>C (p.Pro1262=)
c.3750A>C (p.Pro1250=)
c.3861A>C (p.Pro1287=)
c.3825A>C (p.Pro1275=)
c.3783A>C (p.Pro1261=)
c.3747A>C (p.Pro1249=)
19g.7119458G>ACA403669014INSRc.3785C>T (p.Pro1262Leu)
c.3749C>T (p.Pro1250Leu)
c.3860C>T (p.Pro1287Leu)
c.3824C>T (p.Pro1275Leu)
c.3782C>T (p.Pro1261Leu)
c.3746C>T (p.Pro1249Leu)
19g.7119458G>CCA403669015INSRc.3785C>G (p.Pro1262Arg)
c.3749C>G (p.Pro1250Arg)
c.3860C>G (p.Pro1287Arg)
c.3824C>G (p.Pro1275Arg)
c.3782C>G (p.Pro1261Arg)
c.3746C>G (p.Pro1249Arg)
19g.7119458G>TCA403669016INSRc.3785C>A (p.Pro1262Gln)
c.3749C>A (p.Pro1250Gln)
c.3860C>A (p.Pro1287Gln)
c.3824C>A (p.Pro1275Gln)
c.3782C>A (p.Pro1261Gln)
c.3746C>A (p.Pro1249Gln)
19g.7119459G>ACA403669017INSRc.3784C>T (p.Pro1262Ser)
c.3748C>T (p.Pro1250Ser)
c.3859C>T (p.Pro1287Ser)
c.3823C>T (p.Pro1275Ser)
c.3781C>T (p.Pro1261Ser)
c.3745C>T (p.Pro1249Ser)
19g.7119459G>CCA403669018INSRc.3784C>G (p.Pro1262Ala)
c.3748C>G (p.Pro1250Ala)
c.3859C>G (p.Pro1287Ala)
c.3823C>G (p.Pro1275Ala)
c.3781C>G (p.Pro1261Ala)
c.3745C>G (p.Pro1249Ala)
19g.7119459G>TCA403669019INSRc.3784C>A (p.Pro1262Thr)
c.3748C>A (p.Pro1250Thr)
c.3859C>A (p.Pro1287Thr)
c.3823C>A (p.Pro1275Thr)
c.3781C>A (p.Pro1261Thr)
c.3745C>A (p.Pro1249Thr)
19g.7119460A>CCA403669020INSRc.3783T>G (p.Cys1261Trp)
c.3747T>G (p.Cys1249Trp)
c.3858T>G (p.Cys1286Trp)
c.3822T>G (p.Cys1274Trp)
c.3780T>G (p.Cys1260Trp)
c.3744T>G (p.Cys1248Trp)
19g.7119460A>GCA505216421INSRc.3783T>C (p.Cys1261=)
c.3747T>C (p.Cys1249=)
c.3858T>C (p.Cys1286=)
c.3822T>C (p.Cys1274=)
c.3780T>C (p.Cys1260=)
c.3744T>C (p.Cys1248=)
19g.7119460A>TCA403669021INSRc.3783T>A (p.Cys1261Ter)
c.3747T>A (p.Cys1249Ter)
c.3858T>A (p.Cys1286Ter)
c.3822T>A (p.Cys1274Ter)
c.3780T>A (p.Cys1260Ter)
c.3744T>A (p.Cys1248Ter)
19g.7119461C>ACA403669024INSRc.3782G>T (p.Cys1261Phe)
c.3746G>T (p.Cys1249Phe)
c.3857G>T (p.Cys1286Phe)
c.3821G>T (p.Cys1274Phe)
c.3779G>T (p.Cys1260Phe)
c.3743G>T (p.Cys1248Phe)
19g.7119461C>GCA403669023INSRc.3782G>C (p.Cys1261Ser)
c.3746G>C (p.Cys1249Ser)
c.3857G>C (p.Cys1286Ser)
c.3821G>C (p.Cys1274Ser)
c.3779G>C (p.Cys1260Ser)
c.3743G>C (p.Cys1248Ser)
19g.7119461C>TCA403669022INSRc.3782G>A (p.Cys1261Tyr)
c.3746G>A (p.Cys1249Tyr)
c.3857G>A (p.Cys1286Tyr)
c.3821G>A (p.Cys1274Tyr)
c.3779G>A (p.Cys1260Tyr)
c.3743G>A (p.Cys1248Tyr)
19g.7119462A>CCA403669025INSRc.3781T>G (p.Cys1261Gly)
c.3745T>G (p.Cys1249Gly)
c.3856T>G (p.Cys1286Gly)
c.3820T>G (p.Cys1274Gly)
c.3778T>G (p.Cys1260Gly)
c.3742T>G (p.Cys1248Gly)
19g.7119462A>GCA403669026INSRc.3781T>C (p.Cys1261Arg)
c.3745T>C (p.Cys1249Arg)
c.3856T>C (p.Cys1286Arg)
c.3820T>C (p.Cys1274Arg)
c.3778T>C (p.Cys1260Arg)
c.3742T>C (p.Cys1248Arg)
19g.7119462A>TCA403669027INSRc.3781T>A (p.Cys1261Ser)
c.3745T>A (p.Cys1249Ser)
c.3856T>A (p.Cys1286Ser)
c.3820T>A (p.Cys1274Ser)
c.3778T>A (p.Cys1260Ser)
c.3742T>A (p.Cys1248Ser)
19g.7119463G>ACA505216422INSRc.3780C>T (p.Asn1260=)
c.3744C>T (p.Asn1248=)
c.3855C>T (p.Asn1285=)
c.3819C>T (p.Asn1273=)
c.3777C>T (p.Asn1259=)
c.3741C>T (p.Asn1247=)
19g.7119463G>CCA403669028INSRc.3780C>G (p.Asn1260Lys)
c.3744C>G (p.Asn1248Lys)
c.3855C>G (p.Asn1285Lys)
c.3819C>G (p.Asn1273Lys)
c.3777C>G (p.Asn1259Lys)
c.3741C>G (p.Asn1247Lys)
19g.7119463G>TCA403669029INSRc.3780C>A (p.Asn1260Lys)
c.3744C>A (p.Asn1248Lys)
c.3855C>A (p.Asn1285Lys)
c.3819C>A (p.Asn1273Lys)
c.3777C>A (p.Asn1259Lys)
c.3741C>A (p.Asn1247Lys)
19g.7119464T>ACA403669030INSRc.3779A>T (p.Asn1260Ile)
c.3743A>T (p.Asn1248Ile)
c.3854A>T (p.Asn1285Ile)
c.3818A>T (p.Asn1273Ile)
c.3776A>T (p.Asn1259Ile)
c.3740A>T (p.Asn1247Ile)
19g.7119464T>CCA403669031INSRc.3779A>G (p.Asn1260Ser)
c.3743A>G (p.Asn1248Ser)
c.3854A>G (p.Asn1285Ser)
c.3818A>G (p.Asn1273Ser)
c.3776A>G (p.Asn1259Ser)
c.3740A>G (p.Asn1247Ser)
19g.7119464T>GCA403669032INSRc.3779A>C (p.Asn1260Thr)
c.3743A>C (p.Asn1248Thr)
c.3854A>C (p.Asn1285Thr)
c.3818A>C (p.Asn1273Thr)
c.3776A>C (p.Asn1259Thr)
c.3740A>C (p.Asn1247Thr)
19g.7119465T>ACA403669033INSRc.3778A>T (p.Asn1260Tyr)
c.3742A>T (p.Asn1248Tyr)
c.3853A>T (p.Asn1285Tyr)
c.3817A>T (p.Asn1273Tyr)
c.3775A>T (p.Asn1259Tyr)
c.3739A>T (p.Asn1247Tyr)
19g.7119465T>CCA403669034INSRc.3778A>G (p.Asn1260Asp)
c.3742A>G (p.Asn1248Asp)
c.3853A>G (p.Asn1285Asp)
c.3817A>G (p.Asn1273Asp)
c.3775A>G (p.Asn1259Asp)
c.3739A>G (p.Asn1247Asp)
19g.7119465T>GCA403669035INSRc.3778A>C (p.Asn1260His)
c.3742A>C (p.Asn1248His)
c.3853A>C (p.Asn1285His)
c.3817A>C (p.Asn1273His)
c.3775A>C (p.Asn1259His)
c.3739A>C (p.Asn1247His)
19g.7119466G>ACA505216424INSRc.3777C>T (p.Asp1259=)
c.3741C>T (p.Asp1247=)
c.3852C>T (p.Asp1284=)
c.3816C>T (p.Asp1272=)
c.3774C>T (p.Asp1258=)
c.3738C>T (p.Asp1246=)
19g.7119466G>CCA403669036INSRc.3777C>G (p.Asp1259Glu)
c.3741C>G (p.Asp1247Glu)
c.3852C>G (p.Asp1284Glu)
c.3816C>G (p.Asp1272Glu)
c.3774C>G (p.Asp1258Glu)
c.3738C>G (p.Asp1246Glu)
19g.7119466G>TCA403669037INSRc.3777C>A (p.Asp1259Glu)
c.3741C>A (p.Asp1247Glu)
c.3852C>A (p.Asp1284Glu)
c.3816C>A (p.Asp1272Glu)
c.3774C>A (p.Asp1258Glu)
c.3738C>A (p.Asp1246Glu)
19g.7119467T>ACA403669039INSRc.3776A>T (p.Asp1259Val)
c.3740A>T (p.Asp1247Val)
c.3851A>T (p.Asp1284Val)
c.3815A>T (p.Asp1272Val)
c.3773A>T (p.Asp1258Val)
c.3737A>T (p.Asp1246Val)
19g.7119467T>CCA403669040INSRc.3776A>G (p.Asp1259Gly)
c.3740A>G (p.Asp1247Gly)
c.3851A>G (p.Asp1284Gly)
c.3815A>G (p.Asp1272Gly)
c.3773A>G (p.Asp1258Gly)
c.3737A>G (p.Asp1246Gly)
19g.7119467T>GCA403669038INSRc.3776A>C (p.Asp1259Ala)
c.3740A>C (p.Asp1247Ala)
c.3851A>C (p.Asp1284Ala)
c.3815A>C (p.Asp1272Ala)
c.3773A>C (p.Asp1258Ala)
c.3737A>C (p.Asp1246Ala)
19g.7119468C>ACA403669042INSRc.3775G>T (p.Asp1259Tyr)
c.3739G>T (p.Asp1247Tyr)
c.3850G>T (p.Asp1284Tyr)
c.3814G>T (p.Asp1272Tyr)
c.3772G>T (p.Asp1258Tyr)
c.3736G>T (p.Asp1246Tyr)
19g.7119468C=CA2320764824INSRc.3775G= (p.Asp1259=)
c.3739G= (p.Asp1247=)
c.3850G= (p.Asp1284=)
c.3814G= (p.Asp1272=)
c.3772G= (p.Asp1258=)
c.3736G= (p.Asp1246=)
19g.7119468C>GCA403669041INSRc.3775G>C (p.Asp1259His)
c.3739G>C (p.Asp1247His)
c.3850G>C (p.Asp1284His)
c.3814G>C (p.Asp1272His)
c.3772G>C (p.Asp1258His)
c.3736G>C (p.Asp1246His)
19g.7119468C>TCA9135155INSRc.3775G>A (p.Asp1259Asn)
c.3739G>A (p.Asp1247Asn)
c.3850G>A (p.Asp1284Asn)
c.3814G>A (p.Asp1272Asn)
c.3772G>A (p.Asp1258Asn)
c.3736G>A (p.Asp1246Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7119469G>ACA505216428INSRc.3774C>T (p.Pro1258=)
c.3738C>T (p.Pro1246=)
c.3849C>T (p.Pro1283=)
c.3813C>T (p.Pro1271=)
c.3771C>T (p.Pro1257=)
c.3735C>T (p.Pro1245=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7119469G>CCA505216427INSRc.3774C>G (p.Pro1258=)
c.3738C>G (p.Pro1246=)
c.3849C>G (p.Pro1283=)
c.3813C>G (p.Pro1271=)
c.3771C>G (p.Pro1257=)
c.3735C>G (p.Pro1245=)
19g.7119469G=CA2320764825INSRc.3774C= (p.Pro1258=)
c.3738C= (p.Pro1246=)
c.3849C= (p.Pro1283=)
c.3813C= (p.Pro1271=)
c.3771C= (p.Pro1257=)
c.3735C= (p.Pro1245=)
19g.7119469G>TCA505216426INSRc.3774C>A (p.Pro1258=)
c.3738C>A (p.Pro1246=)
c.3849C>A (p.Pro1283=)
c.3813C>A (p.Pro1271=)
c.3771C>A (p.Pro1257=)
c.3735C>A (p.Pro1245=)
gnomAD v4
19g.7119470G>ACA403669043INSRc.3773C>T (p.Pro1258Leu)
c.3737C>T (p.Pro1246Leu)
c.3848C>T (p.Pro1283Leu)
c.3812C>T (p.Pro1271Leu)
c.3770C>T (p.Pro1257Leu)
c.3734C>T (p.Pro1245Leu)
19g.7119470G>CCA403669044INSRc.3773C>G (p.Pro1258Arg)
c.3737C>G (p.Pro1246Arg)
c.3848C>G (p.Pro1283Arg)
c.3812C>G (p.Pro1271Arg)
c.3770C>G (p.Pro1257Arg)
c.3734C>G (p.Pro1245Arg)
19g.7119470G=CA2320764826INSRc.3773C= (p.Pro1258=)
c.3737C= (p.Pro1246=)
c.3848C= (p.Pro1283=)
c.3812C= (p.Pro1271=)
c.3770C= (p.Pro1257=)
c.3734C= (p.Pro1245=)
19g.7119470G>TCA9135156INSRc.3773C>A (p.Pro1258His)
c.3737C>A (p.Pro1246His)
c.3848C>A (p.Pro1283His)
c.3812C>A (p.Pro1271His)
c.3770C>A (p.Pro1257His)
c.3734C>A (p.Pro1245His)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7119471G>ACA403669045INSRc.3772C>T (p.Pro1258Ser)
c.3736C>T (p.Pro1246Ser)
c.3847C>T (p.Pro1283Ser)
c.3811C>T (p.Pro1271Ser)
c.3769C>T (p.Pro1257Ser)
c.3733C>T (p.Pro1245Ser)
gnomAD v4
19g.7119471G>CCA403669046INSRc.3772C>G (p.Pro1258Ala)
c.3736C>G (p.Pro1246Ala)
c.3847C>G (p.Pro1283Ala)
c.3811C>G (p.Pro1271Ala)
c.3769C>G (p.Pro1257Ala)
c.3733C>G (p.Pro1245Ala)
19g.7119471G>TCA403669047INSRc.3772C>A (p.Pro1258Thr)
c.3736C>A (p.Pro1246Thr)
c.3847C>A (p.Pro1283Thr)
c.3811C>A (p.Pro1271Thr)
c.3769C>A (p.Pro1257Thr)
c.3733C>A (p.Pro1245Thr)
19g.7119472T>ACA403669048INSRc.3771A>T (p.Gln1257His)
c.3735A>T (p.Gln1245His)
c.3846A>T (p.Gln1282His)
c.3810A>T (p.Gln1270His)
c.3768A>T (p.Gln1256His)
c.3732A>T (p.Gln1244His)
19g.7119472T>CCA505216430INSRc.3771A>G (p.Gln1257=)
c.3735A>G (p.Gln1245=)
c.3846A>G (p.Gln1282=)
c.3810A>G (p.Gln1270=)
c.3768A>G (p.Gln1256=)
c.3732A>G (p.Gln1244=)
COSMIC COSMIC
19g.7119472T>GCA403669049INSRc.3771A>C (p.Gln1257His)
c.3735A>C (p.Gln1245His)
c.3846A>C (p.Gln1282His)
c.3810A>C (p.Gln1270His)
c.3768A>C (p.Gln1256His)
c.3732A>C (p.Gln1244His)
19g.7119473T>ACA403669050INSRc.3770A>T (p.Gln1257Leu)
c.3734A>T (p.Gln1245Leu)
c.3845A>T (p.Gln1282Leu)
c.3809A>T (p.Gln1270Leu)
c.3767A>T (p.Gln1256Leu)
c.3731A>T (p.Gln1244Leu)
19g.7119473T>CCA403669051INSRc.3770A>G (p.Gln1257Arg)
c.3734A>G (p.Gln1245Arg)
c.3845A>G (p.Gln1282Arg)
c.3809A>G (p.Gln1270Arg)
c.3767A>G (p.Gln1256Arg)
c.3731A>G (p.Gln1244Arg)
19g.7119473T>GCA403669052INSRc.3770A>C (p.Gln1257Pro)
c.3734A>C (p.Gln1245Pro)
c.3845A>C (p.Gln1282Pro)
c.3809A>C (p.Gln1270Pro)
c.3767A>C (p.Gln1256Pro)
c.3731A>C (p.Gln1244Pro)
19g.7119474G>ACA403669055INSRc.3769C>T (p.Gln1257Ter)
c.3733C>T (p.Gln1245Ter)
c.3844C>T (p.Gln1282Ter)
c.3808C>T (p.Gln1270Ter)
c.3766C>T (p.Gln1256Ter)
c.3730C>T (p.Gln1244Ter)
19g.7119474G>CCA403669054INSRc.3769C>G (p.Gln1257Glu)
c.3733C>G (p.Gln1245Glu)
c.3844C>G (p.Gln1282Glu)
c.3808C>G (p.Gln1270Glu)
c.3766C>G (p.Gln1256Glu)
c.3730C>G (p.Gln1244Glu)
COSMIC COSMIC
19g.7119474G>TCA403669053INSRc.3769C>A (p.Gln1257Lys)
c.3733C>A (p.Gln1245Lys)
c.3844C>A (p.Gln1282Lys)
c.3808C>A (p.Gln1270Lys)
c.3766C>A (p.Gln1256Lys)
c.3730C>A (p.Gln1244Lys)
19g.7119475A>CCA403669056INSRc.3768T>G (p.Asp1256Glu)
c.3732T>G (p.Asp1244Glu)
c.3843T>G (p.Asp1281Glu)
c.3807T>G (p.Asp1269Glu)
c.3765T>G (p.Asp1255Glu)
c.3729T>G (p.Asp1243Glu)
19g.7119475A>GCA505216435INSRc.3768T>C (p.Asp1256=)
c.3732T>C (p.Asp1244=)
c.3843T>C (p.Asp1281=)
c.3807T>C (p.Asp1269=)
c.3765T>C (p.Asp1255=)
c.3729T>C (p.Asp1243=)
19g.7119475A>TCA403669057INSRc.3768T>A (p.Asp1256Glu)
c.3732T>A (p.Asp1244Glu)
c.3843T>A (p.Asp1281Glu)
c.3807T>A (p.Asp1269Glu)
c.3765T>A (p.Asp1255Glu)
c.3729T>A (p.Asp1243Glu)
19g.7119476T>ACA403669058INSRc.3767A>T (p.Asp1256Val)
c.3731A>T (p.Asp1244Val)
c.3842A>T (p.Asp1281Val)
c.3806A>T (p.Asp1269Val)
c.3764A>T (p.Asp1255Val)
c.3728A>T (p.Asp1243Val)
19g.7119476T>CCA403669059INSRc.3767A>G (p.Asp1256Gly)
c.3731A>G (p.Asp1244Gly)
c.3842A>G (p.Asp1281Gly)
c.3806A>G (p.Asp1269Gly)
c.3764A>G (p.Asp1255Gly)
c.3728A>G (p.Asp1243Gly)
19g.7119476T>GCA403669060INSRc.3767A>C (p.Asp1256Ala)
c.3731A>C (p.Asp1244Ala)
c.3842A>C (p.Asp1281Ala)
c.3806A>C (p.Asp1269Ala)
c.3764A>C (p.Asp1255Ala)
c.3728A>C (p.Asp1243Ala)
19g.7119477C>ACA403669061INSRc.3766G>T (p.Asp1256Tyr)
c.3730G>T (p.Asp1244Tyr)
c.3841G>T (p.Asp1281Tyr)
c.3805G>T (p.Asp1269Tyr)
c.3763G>T (p.Asp1255Tyr)
c.3727G>T (p.Asp1243Tyr)
19g.7119477C>GCA403669062INSRc.3766G>C (p.Asp1256His)
c.3730G>C (p.Asp1244His)
c.3841G>C (p.Asp1281His)
c.3805G>C (p.Asp1269His)
c.3763G>C (p.Asp1255His)
c.3727G>C (p.Asp1243His)
gnomAD v4
19g.7119477C>TCA403669063INSRc.3766G>A (p.Asp1256Asn)
c.3730G>A (p.Asp1244Asn)
c.3841G>A (p.Asp1281Asn)
c.3805G>A (p.Asp1269Asn)
c.3763G>A (p.Asp1255Asn)
c.3727G>A (p.Asp1243Asn)
19g.7119478C>ACA505216437INSRc.3765G>T (p.Leu1255=)
c.3729G>T (p.Leu1243=)
c.3840G>T (p.Leu1280=)
c.3804G>T (p.Leu1268=)
c.3762G>T (p.Leu1254=)
c.3726G>T (p.Leu1242=)
19g.7119478C=CA2320764827INSRc.3765G= (p.Leu1255=)
c.3729G= (p.Leu1243=)
c.3840G= (p.Leu1280=)
c.3804G= (p.Leu1268=)
c.3762G= (p.Leu1254=)
c.3726G= (p.Leu1242=)
19g.7119478C>GCA505216436INSRc.3765G>C (p.Leu1255=)
c.3729G>C (p.Leu1243=)
c.3840G>C (p.Leu1280=)
c.3804G>C (p.Leu1268=)
c.3762G>C (p.Leu1254=)
c.3726G>C (p.Leu1242=)
19g.7119478C>TCA9135157INSRc.3765G>A (p.Leu1255=)
c.3729G>A (p.Leu1243=)
c.3840G>A (p.Leu1280=)
c.3804G>A (p.Leu1268=)
c.3762G>A (p.Leu1254=)
c.3726G>A (p.Leu1242=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7119479A>CCA403669064INSRc.3764T>G (p.Leu1255Arg)
c.3728T>G (p.Leu1243Arg)
c.3839T>G (p.Leu1280Arg)
c.3803T>G (p.Leu1268Arg)
c.3761T>G (p.Leu1254Arg)
c.3725T>G (p.Leu1242Arg)
19g.7119479A>GCA403669065INSRc.3764T>C (p.Leu1255Pro)
c.3728T>C (p.Leu1243Pro)
c.3839T>C (p.Leu1280Pro)
c.3803T>C (p.Leu1268Pro)
c.3761T>C (p.Leu1254Pro)
c.3725T>C (p.Leu1242Pro)
19g.7119479A>TCA403669066INSRc.3764T>A (p.Leu1255Gln)
c.3728T>A (p.Leu1243Gln)
c.3839T>A (p.Leu1280Gln)
c.3803T>A (p.Leu1268Gln)
c.3761T>A (p.Leu1254Gln)
c.3725T>A (p.Leu1242Gln)
19g.7119480G>ACA505216438INSRc.3763C>T (p.Leu1255=)
c.3727C>T (p.Leu1243=)
c.3838C>T (p.Leu1280=)
c.3802C>T (p.Leu1268=)
c.3760C>T (p.Leu1254=)
c.3724C>T (p.Leu1242=)
19g.7119480G>CCA403669068INSRc.3763C>G (p.Leu1255Val)
c.3727C>G (p.Leu1243Val)
c.3838C>G (p.Leu1280Val)
c.3802C>G (p.Leu1268Val)
c.3760C>G (p.Leu1254Val)
c.3724C>G (p.Leu1242Val)
19g.7119480G>TCA403669067INSRc.3763C>A (p.Leu1255Met)
c.3727C>A (p.Leu1243Met)
c.3838C>A (p.Leu1280Met)
c.3802C>A (p.Leu1268Met)
c.3760C>A (p.Leu1254Met)
c.3724C>A (p.Leu1242Met)
gnomAD v4
19g.7119481A>CCA403669069INSRc.3762T>G (p.Tyr1254Ter)
c.3726T>G (p.Tyr1242Ter)
c.3837T>G (p.Tyr1279Ter)
c.3801T>G (p.Tyr1267Ter)
c.3759T>G (p.Tyr1253Ter)
c.3723T>G (p.Tyr1241Ter)
19g.7119481A>GCA505216439INSRc.3762T>C (p.Tyr1254=)
c.3726T>C (p.Tyr1242=)
c.3837T>C (p.Tyr1279=)
c.3801T>C (p.Tyr1267=)
c.3759T>C (p.Tyr1253=)
c.3723T>C (p.Tyr1241=)
19g.7119481A>TCA403669070INSRc.3762T>A (p.Tyr1254Ter)
c.3726T>A (p.Tyr1242Ter)
c.3837T>A (p.Tyr1279Ter)
c.3801T>A (p.Tyr1267Ter)
c.3759T>A (p.Tyr1253Ter)
c.3723T>A (p.Tyr1241Ter)
19g.7119482T>ACA403669071INSRc.3761A>T (p.Tyr1254Phe)
c.3725A>T (p.Tyr1242Phe)
c.3836A>T (p.Tyr1279Phe)
c.3800A>T (p.Tyr1267Phe)
c.3758A>T (p.Tyr1253Phe)
c.3722A>T (p.Tyr1241Phe)
19g.7119482T>CCA403669072INSRc.3761A>G (p.Tyr1254Cys)
c.3725A>G (p.Tyr1242Cys)
c.3836A>G (p.Tyr1279Cys)
c.3800A>G (p.Tyr1267Cys)
c.3758A>G (p.Tyr1253Cys)
c.3722A>G (p.Tyr1241Cys)
gnomAD v4
19g.7119482T>GCA403669073INSRc.3761A>C (p.Tyr1254Ser)
c.3725A>C (p.Tyr1242Ser)
c.3836A>C (p.Tyr1279Ser)
c.3800A>C (p.Tyr1267Ser)
c.3758A>C (p.Tyr1253Ser)
c.3722A>C (p.Tyr1241Ser)
19g.7119483A=CA2320764828INSRc.3760T= (p.Tyr1254=)
c.3724T= (p.Tyr1242=)
c.3835T= (p.Tyr1279=)
c.3799T= (p.Tyr1267=)
c.3757T= (p.Tyr1253=)
c.3721T= (p.Tyr1241=)
19g.7119483A>CCA403669076INSRc.3760T>G (p.Tyr1254Asp)
c.3724T>G (p.Tyr1242Asp)
c.3835T>G (p.Tyr1279Asp)
c.3799T>G (p.Tyr1267Asp)
c.3757T>G (p.Tyr1253Asp)
c.3721T>G (p.Tyr1241Asp)
dbSNP gnomAD v4
19g.7119483A>GCA403669075INSRc.3760T>C (p.Tyr1254His)
c.3724T>C (p.Tyr1242His)
c.3835T>C (p.Tyr1279His)
c.3799T>C (p.Tyr1267His)
c.3757T>C (p.Tyr1253His)
c.3721T>C (p.Tyr1241His)
19g.7119483A>TCA403669074INSRc.3760T>A (p.Tyr1254Asn)
c.3724T>A (p.Tyr1242Asn)
c.3835T>A (p.Tyr1279Asn)
c.3799T>A (p.Tyr1267Asn)
c.3757T>A (p.Tyr1253Asn)
c.3721T>A (p.Tyr1241Asn)
19g.7119484C>ACA505216443INSRc.3759G>T (p.Gly1253=)
c.3723G>T (p.Gly1241=)
c.3834G>T (p.Gly1278=)
c.3798G>T (p.Gly1266=)
c.3756G>T (p.Gly1252=)
c.3720G>T (p.Gly1240=)
19g.7119484C=CA2320764829INSRc.3759G= (p.Gly1253=)
c.3723G= (p.Gly1241=)
c.3834G= (p.Gly1278=)
c.3798G= (p.Gly1266=)
c.3756G= (p.Gly1252=)
c.3720G= (p.Gly1240=)
19g.7119484C>GCA505216442INSRc.3759G>C (p.Gly1253=)
c.3723G>C (p.Gly1241=)
c.3834G>C (p.Gly1278=)
c.3798G>C (p.Gly1266=)
c.3756G>C (p.Gly1252=)
c.3720G>C (p.Gly1240=)
19g.7119484C>TCA505216441INSRc.3759G>A (p.Gly1253=)
c.3723G>A (p.Gly1241=)
c.3834G>A (p.Gly1278=)
c.3798G>A (p.Gly1266=)
c.3756G>A (p.Gly1252=)
c.3720G>A (p.Gly1240=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7119485C>ACA403669077INSRc.3758G>T (p.Gly1253Val)
c.3722G>T (p.Gly1241Val)
c.3833G>T (p.Gly1278Val)
c.3797G>T (p.Gly1266Val)
c.3755G>T (p.Gly1252Val)
c.3719G>T (p.Gly1240Val)
19g.7119485C>GCA403669078INSRc.3758G>C (p.Gly1253Ala)
c.3722G>C (p.Gly1241Ala)
c.3833G>C (p.Gly1278Ala)
c.3797G>C (p.Gly1266Ala)
c.3755G>C (p.Gly1252Ala)
c.3719G>C (p.Gly1240Ala)
19g.7119485C>TCA403669079INSRc.3758G>A (p.Gly1253Glu)
c.3722G>A (p.Gly1241Glu)
c.3833G>A (p.Gly1278Glu)
c.3797G>A (p.Gly1266Glu)
c.3755G>A (p.Gly1252Glu)
c.3719G>A (p.Gly1240Glu)
19g.7119486C>ACA403669080INSRc.3757G>T (p.Gly1253Trp)
c.3721G>T (p.Gly1241Trp)
c.3832G>T (p.Gly1278Trp)
c.3796G>T (p.Gly1266Trp)
c.3754G>T (p.Gly1252Trp)
c.3718G>T (p.Gly1240Trp)
19g.7119486C>GCA403669081INSRc.3757G>C (p.Gly1253Arg)
c.3721G>C (p.Gly1241Arg)
c.3832G>C (p.Gly1278Arg)
c.3796G>C (p.Gly1266Arg)
c.3754G>C (p.Gly1252Arg)
c.3718G>C (p.Gly1240Arg)
19g.7119486C>TCA403669082INSRc.3757G>A (p.Gly1253Arg)
c.3721G>A (p.Gly1241Arg)
c.3832G>A (p.Gly1278Arg)
c.3796G>A (p.Gly1266Arg)
c.3754G>A (p.Gly1252Arg)
c.3718G>A (p.Gly1240Arg)
19g.7119487T>ACA505216447INSRc.3756A>T (p.Gly1252=)
c.3720A>T (p.Gly1240=)
c.3831A>T (p.Gly1277=)
c.3795A>T (p.Gly1265=)
c.3753A>T (p.Gly1251=)
c.3717A>T (p.Gly1239=)
19g.7119487T>CCA505216445INSRc.3756A>G (p.Gly1252=)
c.3720A>G (p.Gly1240=)
c.3831A>G (p.Gly1277=)
c.3795A>G (p.Gly1265=)
c.3753A>G (p.Gly1251=)
c.3717A>G (p.Gly1239=)
19g.7119487T>GCA505216444INSRc.3756A>C (p.Gly1252=)
c.3720A>C (p.Gly1240=)
c.3831A>C (p.Gly1277=)
c.3795A>C (p.Gly1265=)
c.3753A>C (p.Gly1251=)
c.3717A>C (p.Gly1239=)
19g.7119488C>ACA403669083INSRc.3755G>T (p.Gly1252Val)
c.3719G>T (p.Gly1240Val)
c.3830G>T (p.Gly1277Val)
c.3794G>T (p.Gly1265Val)
c.3752G>T (p.Gly1251Val)
c.3716G>T (p.Gly1239Val)
19g.7119488C>GCA403669085INSRc.3755G>C (p.Gly1252Ala)
c.3719G>C (p.Gly1240Ala)
c.3830G>C (p.Gly1277Ala)
c.3794G>C (p.Gly1265Ala)
c.3752G>C (p.Gly1251Ala)
c.3716G>C (p.Gly1239Ala)
19g.7119488C>TCA403669084INSRc.3755G>A (p.Gly1252Glu)
c.3719G>A (p.Gly1240Glu)
c.3830G>A (p.Gly1277Glu)
c.3794G>A (p.Gly1265Glu)
c.3752G>A (p.Gly1251Glu)
c.3716G>A (p.Gly1239Glu)
19g.7119489C>ACA403669086INSRc.3754G>T (p.Gly1252Ter)
c.3718G>T (p.Gly1240Ter)
c.3829G>T (p.Gly1277Ter)
c.3793G>T (p.Gly1265Ter)
c.3751G>T (p.Gly1251Ter)
c.3715G>T (p.Gly1239Ter)
gnomAD v4
19g.7119489C>GCA403669087INSRc.3754G>C (p.Gly1252Arg)
c.3718G>C (p.Gly1240Arg)
c.3829G>C (p.Gly1277Arg)
c.3793G>C (p.Gly1265Arg)
c.3751G>C (p.Gly1251Arg)
c.3715G>C (p.Gly1239Arg)
19g.7119489C>TCA403669088INSRc.3754G>A (p.Gly1252Arg)
c.3718G>A (p.Gly1240Arg)
c.3829G>A (p.Gly1277Arg)
c.3793G>A (p.Gly1265Arg)
c.3751G>A (p.Gly1251Arg)
c.3715G>A (p.Gly1239Arg)

Number of alleles fetched