Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7184286C=CA2320796081INSRc.974+30G= (n.974+30G=)
n.949+30G=
c.1052+30G= (n.1052+30G=)
19g.7184286C>TCA9135970INSRc.974+30G>A (n.974+30G>A)
n.949+30G>A
c.1052+30G>A (n.1052+30G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7184288G>ACA2587926195INSRc.974+28C>T (n.974+28C>T)
n.949+28C>T
c.1052+28C>T (n.1052+28C>T)
gnomAD v4
19g.7184288G>TCA2587926196INSRc.974+28C>A (n.974+28C>A)
n.949+28C>A
c.1052+28C>A (n.1052+28C>A)
gnomAD v4
19g.7184288_7184289delinsGCCA2320796082INSRc.974+27_974+28delinsGC (n.974+27_974+28delinsGC)
n.949+27_949+28delinsGC
c.1052+27_1052+28delinsGC (n.1052+27_1052+28delinsGC)
19g.7184289C>ACA2587926197INSRc.974+27G>T (n.974+27G>T)
n.949+27G>T
c.1052+27G>T (n.1052+27G>T)
gnomAD v4
19g.7184289C>TCA2587926198INSRc.974+27G>A (n.974+27G>A)
n.949+27G>A
c.1052+27G>A (n.1052+27G>A)
gnomAD v4
19g.7184294dupCA9135971INSRc.974+27dup (n.974+27dup)
n.949+27dup
c.1052+27dup (n.1052+27dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184294delCA631723677INSRc.974+27del (n.974+27del)
n.949+27del
c.1052+27del (n.1052+27del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7184290C>ACA2587926199INSRc.974+26G>T (n.974+26G>T)
n.949+26G>T
c.1052+26G>T (n.1052+26G>T)
gnomAD v4
19g.7184290C=CA2320796083INSRc.974+26G= (n.974+26G=)
n.949+26G=
c.1052+26G= (n.1052+26G=)
19g.7184290C>TCA631723678INSRc.974+26G>A (n.974+26G>A)
n.949+26G>A
c.1052+26G>A (n.1052+26G>A)
dbSNP gnomAD v2
19g.7184291C=CA2320796084INSRc.974+25G= (n.974+25G=)
n.949+25G=
c.1052+25G= (n.1052+25G=)
19g.7184291C>GCA2587926200INSRc.974+25G>C (n.974+25G>C)
n.949+25G>C
c.1052+25G>C (n.1052+25G>C)
gnomAD v4
19g.7184291C>TCA9135972INSRc.974+25G>A (n.974+25G>A)
n.949+25G>A
c.1052+25G>A (n.1052+25G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184292C>TCA2587926201INSRc.974+24G>A (n.974+24G>A)
n.949+24G>A
c.1052+24G>A (n.1052+24G>A)
gnomAD v4
19g.7184293C=CA2320796085INSRc.974+23G= (n.974+23G=)
n.949+23G=
c.1052+23G= (n.1052+23G=)
19g.7184293C>GCA9135973INSRc.974+23G>C (n.974+23G>C)
n.949+23G>C
c.1052+23G>C (n.1052+23G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7184294C>ACA9135975INSRc.974+22G>T (n.974+22G>T)
n.949+22G>T
c.1052+22G>T (n.1052+22G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184294C=CA2320796086INSRc.974+22G= (n.974+22G=)
n.949+22G=
c.1052+22G= (n.1052+22G=)
19g.7184294C>GCA631723679INSRc.974+22G>C (n.974+22G>C)
n.949+22G>C
c.1052+22G>C (n.1052+22G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7184294C>TCA9135974INSRc.974+22G>A (n.974+22G>A)
n.949+22G>A
c.1052+22G>A (n.1052+22G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7184296G>CCA2587926202INSRc.974+20C>G (n.974+20C>G)
n.949+20C>G
c.1052+20C>G (n.1052+20C>G)
gnomAD v4
19g.7184296G>TCA2542587420INSRc.974+20C>A (n.974+20C>A)
n.949+20C>A
c.1052+20C>A (n.1052+20C>A)
gnomAD v4
19g.7184300delCA2587926203INSRc.974+18del (n.974+18del)
n.949+18del
c.1052+18del (n.1052+18del)
gnomAD v4
19g.7184299C>ACA2320796088INSRc.974+17G>T (n.974+17G>T)
n.949+17G>T
c.1052+17G>T (n.1052+17G>T)
dbSNP gnomAD v4
19g.7184299C=CA2320796087INSRc.974+17G= (n.974+17G=)
n.949+17G=
c.1052+17G= (n.1052+17G=)
19g.7184301A=CA2320796089INSRc.974+15T= (n.974+15T=)
n.949+15T=
c.1052+15T= (n.1052+15T=)
19g.7184301A>CCA993124576INSRc.974+15T>G (n.974+15T>G)
n.949+15T>G
c.1052+15T>G (n.1052+15T>G)
dbSNP gnomAD v3 gnomAD v4
19g.7184302C>GCA2576595392INSRc.974+14G>C (n.974+14G>C)
n.949+14G>C
c.1052+14G>C (n.1052+14G>C)
19g.7184304T>ACA2735508783INSRc.974+12A>T (n.974+12A>T)
n.949+12A>T
c.1052+12A>T (n.1052+12A>T)
dbSNP
19g.7184308G>ACA2587926204INSRc.974+8C>T (n.974+8C>T)
n.949+8C>T
c.1052+8C>T (n.1052+8C>T)
gnomAD v4
19g.7184313C>ACA2587926205INSRc.974+3G>T (n.974+3G>T)
n.949+3G>T
c.1052+3G>T (n.1052+3G>T)
gnomAD v4
19g.7184314A>CCA403669581INSRc.974+2T>G (n.974+2T>G)
n.949+2T>G
c.1052+2T>G (n.1052+2T>G)
19g.7184314A>GCA403669583INSRc.974+2T>C (n.974+2T>C)
n.949+2T>C
c.1052+2T>C (n.1052+2T>C)
19g.7184314A>TCA403669586INSRc.974+2T>A (n.974+2T>A)
n.949+2T>A
c.1052+2T>A (n.1052+2T>A)
19g.7184315C>ACA403669589INSRc.974+1G>T (n.974+1G>T)
n.949+1G>T
c.1052+1G>T (n.1052+1G>T)
19g.7184315C>GCA403669591INSRc.974+1G>C (n.974+1G>C)
n.949+1G>C
c.1052+1G>C (n.1052+1G>C)
19g.7184315C>TCA403669593INSRc.974+1G>A (n.974+1G>A)
n.949+1G>A
c.1052+1G>A (n.1052+1G>A)
19g.7184316T>ACA403669597INSRc.974A>T (p.Asn325Ile)
n.949A>T
c.1052A>T (p.Asn351Ile)
gnomAD v4
19g.7184316T>CCA403669600INSRc.974A>G (p.Asn325Ser)
n.949A>G
c.1052A>G (p.Asn351Ser)
19g.7184316T>GCA403669602INSRc.974A>C (p.Asn325Thr)
n.949A>C
c.1052A>C (p.Asn351Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7184316T=CA2320796090INSRc.974A= (p.Asn325=)
n.949A=
c.1052A= (p.Asn351=)
19g.7184317T>ACA403669608INSRc.973A>T (p.Asn325Tyr)
n.948A>T
c.1051A>T (p.Asn351Tyr)
19g.7184317T>CCA403669610INSRc.973A>G (p.Asn325Asp)
n.948A>G
c.1051A>G (p.Asn351Asp)
19g.7184317T>GCA403669605INSRc.973A>C (p.Asn325His)
n.948A>C
c.1051A>C (p.Asn351His)
19g.7184318G>ACA505400307INSRc.972C>T (p.Ser324=)
n.947C>T
c.1050C>T (p.Ser350=)
19g.7184318G>CCA403669613INSRc.972C>G (p.Ser324Arg)
n.947C>G
c.1050C>G (p.Ser350Arg)
19g.7184318G>TCA403669615INSRc.972C>A (p.Ser324Arg)
n.947C>A
c.1050C>A (p.Ser350Arg)
19g.7184319C>ACA403669618INSRc.971G>T (p.Ser324Ile)
n.946G>T
c.1049G>T (p.Ser350Ile)
19g.7184319C=CA2320796091INSRc.971G= (p.Ser324=)
n.946G=
c.1049G= (p.Ser350=)
19g.7184319C>GCA403669620INSRc.971G>C (p.Ser324Thr)
n.946G>C
c.1049G>C (p.Ser350Thr)
19g.7184319C>TCA403669622INSRc.971G>A (p.Ser324Asn)
n.946G>A
c.1049G>A (p.Ser350Asn)
dbSNP gnomAD v4
19g.7184320T>ACA403669626INSRc.970A>T (p.Ser324Cys)
n.945A>T
c.1048A>T (p.Ser350Cys)
19g.7184320T>CCA304866404INSRc.970A>G (p.Ser324Gly)
n.945A>G
c.1048A>G (p.Ser350Gly)
dbSNP gnomAD v4
19g.7184320T>GCA403669627INSRc.970A>C (p.Ser324Arg)
n.945A>C
c.1048A>C (p.Ser350Arg)
19g.7184320T=CA2320796094INSRc.970A= (p.Ser324=)
n.945A=
c.1048A= (p.Ser350=)
19g.7184321G>ACA9135976INSRc.969C>T (p.Ser323=)
n.944C>T
c.1047C>T (p.Ser349=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7184321G>CCA505400308INSRc.969C>G (p.Ser323=)
n.944C>G
c.1047C>G (p.Ser349=)
19g.7184321G=CA2320796096INSRc.969C= (p.Ser323=)
n.944C=
c.1047C= (p.Ser349=)
19g.7184321G>TCA505400309INSRc.969C>A (p.Ser323=)
n.944C>A
c.1047C>A (p.Ser349=)
19g.7184322G>ACA403669628INSRc.968C>T (p.Ser323Phe)
n.943C>T
c.1046C>T (p.Ser349Phe)
dbSNP
19g.7184322G>CCA403669629INSRc.968C>G (p.Ser323Cys)
n.943C>G
c.1046C>G (p.Ser349Cys)
19g.7184322G=CA2320796100INSRc.968C= (p.Ser323=)
n.943C=
c.1046C= (p.Ser349=)
19g.7184322G>TCA403669630INSRc.968C>A (p.Ser323Tyr)
n.943C>A
c.1046C>A (p.Ser349Tyr)
19g.7184323A>CCA403669632INSRc.967T>G (p.Ser323Ala)
n.942T>G
c.1045T>G (p.Ser349Ala)
19g.7184323A>GCA403669633INSRc.967T>C (p.Ser323Pro)
n.942T>C
c.1045T>C (p.Ser349Pro)
19g.7184323A>TCA403669631INSRc.967T>A (p.Ser323Thr)
n.942T>A
c.1045T>A (p.Ser349Thr)
19g.7184324A>CCA403669634INSRc.966T>G (p.Asn322Lys)
n.941T>G
c.1044T>G (p.Asn348Lys)
19g.7184324A>GCA505400310INSRc.966T>C (p.Asn322=)
n.941T>C
c.1044T>C (p.Asn348=)
19g.7184324A>TCA403669635INSRc.966T>A (p.Asn322Lys)
n.941T>A
c.1044T>A (p.Asn348Lys)
gnomAD v4
19g.7184325T>ACA403669636INSRc.965A>T (p.Asn322Ile)
n.940A>T
c.1043A>T (p.Asn348Ile)
dbSNP gnomAD v2 gnomAD v4
19g.7184325T>CCA403669637INSRc.965A>G (p.Asn322Ser)
n.940A>G
c.1043A>G (p.Asn348Ser)
19g.7184325T>GCA403669638INSRc.965A>C (p.Asn322Thr)
n.940A>C
c.1043A>C (p.Asn348Thr)
19g.7184325T=CA2320796101INSRc.965A= (p.Asn322=)
n.940A=
c.1043A= (p.Asn348=)
19g.7184326T>ACA403669641INSRc.964A>T (p.Asn322Tyr)
n.939A>T
c.1042A>T (p.Asn348Tyr)
19g.7184326T>CCA403669640INSRc.964A>G (p.Asn322Asp)
n.939A>G
c.1042A>G (p.Asn348Asp)
19g.7184326T>GCA403669639INSRc.964A>C (p.Asn322His)
n.939A>C
c.1042A>C (p.Asn348His)
19g.7184327C>ACA403669642INSRc.963G>T (p.Met321Ile)
n.938G>T
c.1041G>T (p.Met347Ile)
19g.7184327C>GCA403669643INSRc.963G>C (p.Met321Ile)
n.938G>C
c.1041G>C (p.Met347Ile)
19g.7184327C>TCA403669644INSRc.963G>A (p.Met321Ile)
n.938G>A
c.1041G>A (p.Met347Ile)
19g.7184328A>CCA403669645INSRc.962T>G (p.Met321Arg)
n.937T>G
c.1040T>G (p.Met347Arg)
19g.7184328A>GCA403669646INSRc.962T>C (p.Met321Thr)
n.937T>C
c.1040T>C (p.Met347Thr)
19g.7184328A>TCA403669647INSRc.962T>A (p.Met321Lys)
n.937T>A
c.1040T>A (p.Met347Lys)
gnomAD v4
19g.7184329T>ACA403669648INSRc.961A>T (p.Met321Leu)
n.936A>T
c.1039A>T (p.Met347Leu)
19g.7184329T>CCA403669650INSRc.961A>G (p.Met321Val)
n.936A>G
c.1039A>G (p.Met347Val)
19g.7184329T>GCA403669649INSRc.961A>C (p.Met321Leu)
n.936A>C
c.1039A>C (p.Met347Leu)
19g.7184330C>ACA505400311INSRc.960G>T (p.Thr320=)
n.935G>T
c.1038G>T (p.Thr346=)
19g.7184330C=CA2320796102INSRc.960G= (p.Thr320=)
n.935G=
c.1038G= (p.Thr346=)
19g.7184330C>GCA505400312INSRc.960G>C (p.Thr320=)
n.935G>C
c.1038G>C (p.Thr346=)
19g.7184330C>TCA9135977INSRc.960G>A (p.Thr320=)
n.935G>A
c.1038G>A (p.Thr346=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184331G>ACA206180INSRc.959C>T (p.Thr320Met)
n.934C>T
c.1037C>T (p.Thr346Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7184331G>CCA403669651INSRc.959C>G (p.Thr320Arg)
n.934C>G
c.1037C>G (p.Thr346Arg)
19g.7184331G=CA2320796103INSRc.959C= (p.Thr320=)
n.934C=
c.1037C= (p.Thr346=)
19g.7184331G>TCA403669652INSRc.959C>A (p.Thr320Lys)
n.934C>A
c.1037C>A (p.Thr346Lys)
COSMIC COSMIC
19g.7184332T>ACA403669653INSRc.958A>T (p.Thr320Ser)
n.933A>T
c.1036A>T (p.Thr346Ser)
19g.7184332T>CCA403669654INSRc.958A>G (p.Thr320Ala)
n.933A>G
c.1036A>G (p.Thr346Ala)
19g.7184332T>GCA403669655INSRc.958A>C (p.Thr320Pro)
n.933A>C
c.1036A>C (p.Thr346Pro)
19g.7184333G>ACA505400313INSRc.957C>T (p.Tyr319=)
n.932C>T
c.1035C>T (p.Tyr345=)
gnomAD v4
19g.7184333G>CCA403669657INSRc.957C>G (p.Tyr319Ter)
n.932C>G
c.1035C>G (p.Tyr345Ter)
19g.7184333G>TCA403669656INSRc.957C>A (p.Tyr319Ter)
n.932C>A
c.1035C>A (p.Tyr345Ter)
19g.7184334T>ACA403669658INSRc.956A>T (p.Tyr319Phe)
n.931A>T
c.1034A>T (p.Tyr345Phe)
19g.7184334T>CCA403669659INSRc.956A>G (p.Tyr319Cys)
n.931A>G
c.1034A>G (p.Tyr345Cys)
dbSNP gnomAD v3 gnomAD v4
19g.7184334T>GCA403669660INSRc.956A>C (p.Tyr319Ser)
n.931A>C
c.1034A>C (p.Tyr345Ser)
19g.7184334T=CA2320796104INSRc.956A= (p.Tyr319=)
n.931A=
c.1034A= (p.Tyr345=)
19g.7184335A>CCA403669661INSRc.955T>G (p.Tyr319Asp)
n.930T>G
c.1033T>G (p.Tyr345Asp)
19g.7184335A>GCA403669662INSRc.955T>C (p.Tyr319His)
n.930T>C
c.1033T>C (p.Tyr345His)
gnomAD v4
19g.7184335A>TCA403669663INSRc.955T>A (p.Tyr319Asn)
n.930T>A
c.1033T>A (p.Tyr345Asn)
19g.7184336C>ACA505400314INSRc.954G>T (p.Gly318=)
n.929G>T
c.1032G>T (p.Gly344=)
19g.7184336C>GCA505400315INSRc.954G>C (p.Gly318=)
n.929G>C
c.1032G>C (p.Gly344=)
19g.7184336C>TCA505400316INSRc.954G>A (p.Gly318=)
n.929G>A
c.1032G>A (p.Gly344=)
19g.7184337C>ACA403669666INSRc.953G>T (p.Gly318Val)
n.928G>T
c.1031G>T (p.Gly344Val)
19g.7184337C>GCA403669664INSRc.953G>C (p.Gly318Ala)
n.928G>C
c.1031G>C (p.Gly344Ala)
19g.7184337C>TCA403669665INSRc.953G>A (p.Gly318Glu)
n.928G>A
c.1031G>A (p.Gly344Glu)
19g.7184338C>ACA403669667INSRc.952G>T (p.Gly318Trp)
n.927G>T
c.1030G>T (p.Gly344Trp)
19g.7184338C=CA2320796105INSRc.952G= (p.Gly318=)
n.927G=
c.1030G= (p.Gly344=)
19g.7184338C>GCA403669668INSRc.952G>C (p.Gly318Arg)
n.927G>C
c.1030G>C (p.Gly344Arg)
19g.7184338C>TCA9135978INSRc.952G>A (p.Gly318Arg)
n.927G>A
c.1030G>A (p.Gly344Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7184339G>ACA9135979INSRc.951C>T (p.Ser317=)
n.926C>T
c.1029C>T (p.Ser343=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184339G>CCA505400317INSRc.951C>G (p.Ser317=)
n.926C>G
c.1029C>G (p.Ser343=)
19g.7184339G=CA2320796106INSRc.951C= (p.Ser317=)
n.926C=
c.1029C= (p.Ser343=)
19g.7184339G>TCA505400318INSRc.951C>A (p.Ser317=)
n.926C>A
c.1029C>A (p.Ser343=)
19g.7184340G>ACA403669669INSRc.950C>T (p.Ser317Phe)
n.925C>T
c.1028C>T (p.Ser343Phe)
gnomAD v4
19g.7184340G>CCA403669670INSRc.950C>G (p.Ser317Cys)
n.925C>G
c.1028C>G (p.Ser343Cys)
19g.7184340G>TCA403669671INSRc.950C>A (p.Ser317Tyr)
n.925C>A
c.1028C>A (p.Ser343Tyr)
19g.7184341A=CA2320796107INSRc.949T= (p.Ser317=)
n.924T=
c.1027T= (p.Ser343=)
19g.7184341A>CCA403669672INSRc.949T>G (p.Ser317Ala)
n.924T>G
c.1027T>G (p.Ser343Ala)
19g.7184341A>GCA403669673INSRc.949T>C (p.Ser317Pro)
n.924T>C
c.1027T>C (p.Ser343Pro)
dbSNP gnomAD v3 gnomAD v4
19g.7184341A>TCA403669674INSRc.949T>A (p.Ser317Thr)
n.924T>A
c.1027T>A (p.Ser343Thr)
19g.7184342G>ACA505400321INSRc.948C>T (p.Pro316=)
n.923C>T
c.1026C>T (p.Pro342=)
19g.7184342G>CCA505400320INSRc.948C>G (p.Pro316=)
n.923C>G
c.1026C>G (p.Pro342=)
19g.7184342G>TCA505400319INSRc.948C>A (p.Pro316=)
n.923C>A
c.1026C>A (p.Pro342=)
19g.7184343G>ACA403669675INSRc.947C>T (p.Pro316Leu)
n.922C>T
c.1025C>T (p.Pro342Leu)
gnomAD v4
19g.7184343G>CCA403669676INSRc.947C>G (p.Pro316Arg)
n.922C>G
c.1025C>G (p.Pro342Arg)
19g.7184343G>TCA403669677INSRc.947C>A (p.Pro316His)
n.922C>A
c.1025C>A (p.Pro342His)
19g.7184344G>ACA403669678INSRc.946C>T (p.Pro316Ser)
n.921C>T
c.1024C>T (p.Pro342Ser)
19g.7184344G>CCA403669680INSRc.946C>G (p.Pro316Ala)
n.921C>G
c.1024C>G (p.Pro342Ala)
dbSNP gnomAD v2 gnomAD v4
19g.7184344G=CA2320796110INSRc.946C= (p.Pro316=)
n.921C=
c.1024C= (p.Pro342=)
19g.7184344G>TCA403669679INSRc.946C>A (p.Pro316Thr)
n.921C>A
c.1024C>A (p.Pro342Thr)
19g.7184345A>CCA403669681INSRc.945T>G (p.Cys315Trp)
n.920T>G
c.1023T>G (p.Cys341Trp)
19g.7184345A>GCA505400322INSRc.945T>C (p.Cys315=)
n.920T>C
c.1023T>C (p.Cys341=)
19g.7184345A>TCA403669682INSRc.945T>A (p.Cys315Ter)
n.920T>A
c.1023T>A (p.Cys341Ter)
19g.7184346C>ACA403669683INSRc.944G>T (p.Cys315Phe)
n.919G>T
c.1022G>T (p.Cys341Phe)
19g.7184346C>GCA403669684INSRc.944G>C (p.Cys315Ser)
n.919G>C
c.1022G>C (p.Cys341Ser)
19g.7184346C>TCA403669685INSRc.944G>A (p.Cys315Tyr)
n.919G>A
c.1022G>A (p.Cys341Tyr)
19g.7184347A>CCA403669686INSRc.943T>G (p.Cys315Gly)
n.918T>G
c.1021T>G (p.Cys341Gly)
19g.7184347A>GCA403669687INSRc.943T>C (p.Cys315Arg)
n.918T>C
c.1021T>C (p.Cys341Arg)
19g.7184347A>TCA403669688INSRc.943T>A (p.Cys315Ser)
n.918T>A
c.1021T>A (p.Cys341Ser)
gnomAD v4
19g.7184348C>ACA403669689INSRc.942G>T (p.Glu314Asp)
n.917G>T
c.1020G>T (p.Glu340Asp)
19g.7184348C>GCA403669690INSRc.942G>C (p.Glu314Asp)
n.917G>C
c.1020G>C (p.Glu340Asp)
19g.7184348C>TCA505400323INSRc.942G>A (p.Glu314=)
n.917G>A
c.1020G>A (p.Glu340=)
19g.7184349T>ACA403669691INSRc.941A>T (p.Glu314Val)
n.916A>T
c.1019A>T (p.Glu340Val)
19g.7184349T>CCA403669692INSRc.941A>G (p.Glu314Gly)
n.916A>G
c.1019A>G (p.Glu340Gly)
19g.7184349T>GCA403669693INSRc.941A>C (p.Glu314Ala)
n.916A>C
c.1019A>C (p.Glu340Ala)
19g.7184350C>ACA403669696INSRc.940G>T (p.Glu314Ter)
n.915G>T
c.1018G>T (p.Glu340Ter)
19g.7184350C>GCA403669694INSRc.940G>C (p.Glu314Gln)
n.915G>C
c.1018G>C (p.Glu340Gln)
19g.7184350C>TCA403669695INSRc.940G>A (p.Glu314Lys)
n.915G>A
c.1018G>A (p.Glu340Lys)
19g.7184351A>CCA505400324INSRc.939T>G (p.Pro313=)
n.914T>G
c.1017T>G (p.Pro339=)
19g.7184351A>GCA505400325INSRc.939T>C (p.Pro313=)
n.914T>C
c.1017T>C (p.Pro339=)
19g.7184351A>TCA505400326INSRc.939T>A (p.Pro313=)
n.914T>A
c.1017T>A (p.Pro339=)
19g.7184352G>ACA403669697INSRc.938C>T (p.Pro313Leu)
n.913C>T
c.1016C>T (p.Pro339Leu)
19g.7184352G>CCA403669698INSRc.938C>G (p.Pro313Arg)
n.913C>G
c.1016C>G (p.Pro339Arg)
gnomAD v4
19g.7184352G>TCA403669699INSRc.938C>A (p.Pro313His)
n.913C>A
c.1016C>A (p.Pro339His)
COSMIC COSMIC
19g.7184353G>ACA403669700INSRc.937C>T (p.Pro313Ser)
n.912C>T
c.1015C>T (p.Pro339Ser)
19g.7184353G>CCA403669701INSRc.937C>G (p.Pro313Ala)
n.912C>G
c.1015C>G (p.Pro339Ala)
19g.7184353G>TCA403669702INSRc.937C>A (p.Pro313Thr)
n.912C>A
c.1015C>A (p.Pro339Thr)
19g.7184354G>ACA505400327INSRc.936C>T (p.Ile312=)
n.911C>T
c.1014C>T (p.Ile338=)
ClinVar dbSNP COSMIC COSMIC
19g.7184354G>CCA403669703INSRc.936C>G (p.Ile312Met)
n.911C>G
c.1014C>G (p.Ile338Met)
19g.7184354G=CA2320796112INSRc.936C= (p.Ile312=)
n.911C=
c.1014C= (p.Ile338=)
19g.7184354G>TCA9135980INSRc.936C>A (p.Ile312=)
n.911C>A
c.1014C>A (p.Ile338=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184355A>CCA403669704INSRc.935T>G (p.Ile312Ser)
n.910T>G
c.1013T>G (p.Ile338Ser)
19g.7184355A>GCA403669705INSRc.935T>C (p.Ile312Thr)
n.910T>C
c.1013T>C (p.Ile338Thr)
19g.7184355A>TCA403669706INSRc.935T>A (p.Ile312Asn)
n.910T>A
c.1013T>A (p.Ile338Asn)
19g.7184356T>ACA403669707INSRc.934A>T (p.Ile312Phe)
n.909A>T
c.1012A>T (p.Ile338Phe)
19g.7184356T>CCA403669709INSRc.934A>G (p.Ile312Val)
n.909A>G
c.1012A>G (p.Ile338Val)
19g.7184356T>GCA403669708INSRc.934A>C (p.Ile312Leu)
n.909A>C
c.1012A>C (p.Ile338Leu)
dbSNP gnomAD v2 gnomAD v4
19g.7184356T=CA2320796113INSRc.934A= (p.Ile312=)
n.909A=
c.1012A= (p.Ile338=)
19g.7184357G>ACA505400328INSRc.933C>T (p.Cys311=)
n.908C>T
c.1011C>T (p.Cys337=)
dbSNP gnomAD v4
19g.7184357G>CCA403669710INSRc.933C>G (p.Cys311Trp)
n.908C>G
c.1011C>G (p.Cys337Trp)
19g.7184357G=CA2320796114INSRc.933C= (p.Cys311=)
n.908C=
c.1011C= (p.Cys337=)
19g.7184357G>TCA403669711INSRc.933C>A (p.Cys311Ter)
n.908C>A
c.1011C>A (p.Cys337Ter)
gnomAD v4
19g.7184358C>ACA403669712INSRc.932G>T (p.Cys311Phe)
n.907G>T
c.1010G>T (p.Cys337Phe)
19g.7184358C>GCA403669713INSRc.932G>C (p.Cys311Ser)
n.907G>C
c.1010G>C (p.Cys337Ser)
19g.7184358C>TCA403669714INSRc.932G>A (p.Cys311Tyr)
n.907G>A
c.1010G>A (p.Cys337Tyr)
19g.7184359A=CA2320796115INSRc.931T= (p.Cys311=)
n.906T=
c.1009T= (p.Cys337=)
19g.7184359A>CCA403669715INSRc.931T>G (p.Cys311Gly)
n.906T>G
c.1009T>G (p.Cys337Gly)
19g.7184359A>GCA403669716INSRc.931T>C (p.Cys311Arg)
n.906T>C
c.1009T>C (p.Cys337Arg)
dbSNP gnomAD v4
19g.7184359A>TCA403669717INSRc.931T>A (p.Cys311Ser)
n.906T>A
c.1009T>A (p.Cys337Ser)
19g.7184360C>ACA403669718INSRc.930G>T (p.Lys310Asn)
n.905G>T
c.1008G>T (p.Lys336Asn)
19g.7184360C>GCA403669719INSRc.930G>C (p.Lys310Asn)
n.905G>C
c.1008G>C (p.Lys336Asn)
19g.7184360C>TCA505400329INSRc.930G>A (p.Lys310=)
n.905G>A
c.1008G>A (p.Lys336=)
19g.7184360_7184363delinsCTTGCA2320796116INSRc.927_930delinsCAAG (p.Asn309=)
n.902_905delinsCAAG
c.1005_1008delinsCAAG (p.Asn335=)
19g.7184361T>ACA403669720INSRc.929A>T (p.Lys310Met)
n.904A>T
c.1007A>T (p.Lys336Met)
19g.7184361T>CCA403669721INSRc.929A>G (p.Lys310Arg)
n.904A>G
c.1007A>G (p.Lys336Arg)
gnomAD v4
19g.7184361T>GCA403669722INSRc.929A>C (p.Lys310Thr)
n.904A>C
c.1007A>C (p.Lys336Thr)
19g.7184368_7184370delCA9135981INSRc.927_929del (p.Asn309del)
n.902_904del
c.1005_1007del (p.Asn335del)
ClinVar dbSNP ExAC gnomAD v4
19g.7184362T>ACA403669725INSRc.928A>T (p.Lys310Ter)
n.903A>T
c.1006A>T (p.Lys336Ter)
19g.7184362T>CCA403669723INSRc.928A>G (p.Lys310Glu)
n.903A>G
c.1006A>G (p.Lys336Glu)
19g.7184362T>GCA403669724INSRc.928A>C (p.Lys310Gln)
n.903A>C
c.1006A>C (p.Lys336Gln)
19g.7184363G>ACA9135982INSRc.927C>T (p.Asn309=)
n.902C>T
c.1005C>T (p.Asn335=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184363G>CCA403669726INSRc.927C>G (p.Asn309Lys)
n.902C>G
c.1005C>G (p.Asn335Lys)
19g.7184363G=CA2320796117INSRc.927C= (p.Asn309=)
n.902C=
c.1005C= (p.Asn335=)
19g.7184363G>TCA403669727INSRc.927C>A (p.Asn309Lys)
n.902C>A
c.1005C>A (p.Asn335Lys)
19g.7184364T>ACA403669728INSRc.926A>T (p.Asn309Ile)
n.901A>T
c.1004A>T (p.Asn335Ile)
19g.7184364T>CCA403669729INSRc.926A>G (p.Asn309Ser)
n.901A>G
c.1004A>G (p.Asn335Ser)
gnomAD v4
19g.7184364T>GCA403669730INSRc.926A>C (p.Asn309Thr)
n.901A>C
c.1004A>C (p.Asn335Thr)
19g.7184365T>ACA403669731INSRc.925A>T (p.Asn309Tyr)
n.900A>T
c.1003A>T (p.Asn335Tyr)
19g.7184365T>CCA403669732INSRc.925A>G (p.Asn309Asp)
n.900A>G
c.1003A>G (p.Asn335Asp)
19g.7184365T>GCA403669733INSRc.925A>C (p.Asn309His)
n.900A>C
c.1003A>C (p.Asn335His)
19g.7184366G>ACA505400330INSRc.924C>T (p.Asn308=)
n.899C>T
c.1002C>T (p.Asn334=)
dbSNP gnomAD v3 gnomAD v4
19g.7184366G>CCA403669734INSRc.924C>G (p.Asn308Lys)
n.899C>G
c.1002C>G (p.Asn334Lys)
19g.7184366G=CA2320796118INSRc.924C= (p.Asn308=)
n.899C=
c.1002C= (p.Asn334=)
19g.7184366G>TCA403669735INSRc.924C>A (p.Asn308Lys)
n.899C>A
c.1002C>A (p.Asn334Lys)
19g.7184367T>ACA403669738INSRc.923A>T (p.Asn308Ile)
n.898A>T
c.1001A>T (p.Asn334Ile)
19g.7184367T>CCA403669737INSRc.923A>G (p.Asn308Ser)
n.898A>G
c.1001A>G (p.Asn334Ser)
19g.7184367T>GCA403669736INSRc.923A>C (p.Asn308Thr)
n.898A>C
c.1001A>C (p.Asn334Thr)
19g.7184367_7184369delinsTTGCA2320796119INSRc.921_923delinsCAA (p.His307=)
n.896_898delinsCAA
c.999_1001delinsCAA (p.His333=)
19g.7184368T>ACA403669739INSRc.922A>T (p.Asn308Tyr)
n.897A>T
c.1000A>T (p.Asn334Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7184368T>CCA403669740INSRc.922A>G (p.Asn308Asp)
n.897A>G
c.1000A>G (p.Asn334Asp)
19g.7184368T>GCA403669741INSRc.922A>C (p.Asn308His)
n.897A>C
c.1000A>C (p.Asn334His)
19g.7184368T=CA2320796122INSRc.922A= (p.Asn308=)
n.897A=
c.1000A= (p.Asn334=)
19g.7184370_7184371delCA631723680INSRc.921_922del (p.His307GlnfsTer7)
n.896_897del
c.999_1000del (p.His333GlnfsTer7)
dbSNP gnomAD v2
19g.7184369G>ACA505400331INSRc.921C>T (p.His307=)
n.896C>T
c.999C>T (p.His333=)
dbSNP
19g.7184369G>CCA403669742INSRc.921C>G (p.His307Gln)
n.896C>G
c.999C>G (p.His333Gln)
19g.7184369G=CA2320796124INSRc.921C= (p.His307=)
n.896C=
c.999C= (p.His333=)
19g.7184369G>TCA403669743INSRc.921C>A (p.His307Gln)
n.896C>A
c.999C>A (p.His333Gln)
19g.7184370T>ACA403669744INSRc.920A>T (p.His307Leu)
n.895A>T
c.998A>T (p.His333Leu)
19g.7184370T>CCA403669745INSRc.920A>G (p.His307Arg)
n.895A>G
c.998A>G (p.His333Arg)
19g.7184370T>GCA403669746INSRc.920A>C (p.His307Pro)
n.895A>C
c.998A>C (p.His333Pro)
19g.7184371G>ACA403669747INSRc.919C>T (p.His307Tyr)
n.894C>T
c.997C>T (p.His333Tyr)
19g.7184371G>CCA403669748INSRc.919C>G (p.His307Asp)
n.894C>G
c.997C>G (p.His333Asp)
19g.7184371G=CA2320796126INSRc.919C= (p.His307=)
n.894C=
c.997C= (p.His333=)
19g.7184371G>TCA403669749INSRc.919C>A (p.His307Asn)
n.894C>A
c.997C>A (p.His333Asn)
dbSNP
19g.7184372A>CCA403669750INSRc.918T>G (p.Ile306Met)
n.893T>G
c.996T>G (p.Ile332Met)
19g.7184372A>GCA505400332INSRc.918T>C (p.Ile306=)
n.893T>C
c.996T>C (p.Ile332=)
19g.7184372A>TCA505400333INSRc.918T>A (p.Ile306=)
n.893T>A
c.996T>A (p.Ile332=)
19g.7184373A>CCA403669753INSRc.917T>G (p.Ile306Ser)
n.892T>G
c.995T>G (p.Ile332Ser)
19g.7184373A>GCA403669752INSRc.917T>C (p.Ile306Thr)
n.892T>C
c.995T>C (p.Ile332Thr)
19g.7184373A>TCA403669751INSRc.917T>A (p.Ile306Asn)
n.892T>A
c.995T>A (p.Ile332Asn)
19g.7184374T>ACA403669754INSRc.916A>T (p.Ile306Phe)
n.891A>T
c.994A>T (p.Ile332Phe)
19g.7184374T>CCA403669755INSRc.916A>G (p.Ile306Val)
n.891A>G
c.994A>G (p.Ile332Val)
19g.7184374T>GCA403669756INSRc.916A>C (p.Ile306Leu)
n.891A>C
c.994A>C (p.Ile332Leu)
19g.7184375G>ACA505400334INSRc.915C>T (p.Val305=)
n.890C>T
c.993C>T (p.Val331=)
19g.7184375G>CCA9135983INSRc.915C>G (p.Val305=)
n.890C>G
c.993C>G (p.Val331=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7184375G=CA2320796127INSRc.915C= (p.Val305=)
n.890C=
c.993C= (p.Val331=)
19g.7184375G>TCA505400335INSRc.915C>A (p.Val305=)
n.890C>A
c.993C>A (p.Val331=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7184376A>CCA403669757INSRc.914T>G (p.Val305Gly)
n.889T>G
c.992T>G (p.Val331Gly)
19g.7184376A>GCA403669758INSRc.914T>C (p.Val305Ala)
n.889T>C
c.992T>C (p.Val331Ala)
19g.7184376A>TCA403669759INSRc.914T>A (p.Val305Asp)
n.889T>A
c.992T>A (p.Val331Asp)
19g.7184377C>ACA403669760INSRc.913G>T (p.Val305Phe)
n.888G>T
c.991G>T (p.Val331Phe)
19g.7184377C=CA2320796128INSRc.913G= (p.Val305=)
n.888G=
c.991G= (p.Val331=)
19g.7184377C>GCA403669761INSRc.913G>C (p.Val305Leu)
n.888G>C
c.991G>C (p.Val331Leu)
19g.7184377C>TCA304866454INSRc.913G>A (p.Val305Ile)
n.888G>A
c.991G>A (p.Val331Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7184378G>ACA304866459INSRc.912C>T (p.Tyr304=)
n.887C>T
c.990C>T (p.Tyr330=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7184378G>CCA403669762INSRc.912C>G (p.Tyr304Ter)
n.887C>G
c.990C>G (p.Tyr330Ter)
dbSNP gnomAD v2 gnomAD v4
19g.7184378G=CA2320796132INSRc.912C= (p.Tyr304=)
n.887C=
c.990C= (p.Tyr330=)
19g.7184378G>TCA403669763INSRc.912C>A (p.Tyr304Ter)
n.887C>A
c.990C>A (p.Tyr330Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7184379T>ACA403669765INSRc.911A>T (p.Tyr304Phe)
n.886A>T
c.989A>T (p.Tyr330Phe)
19g.7184379T>CCA9135984INSRc.911A>G (p.Tyr304Cys)
n.886A>G
c.989A>G (p.Tyr330Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184379T>GCA403669764INSRc.911A>C (p.Tyr304Ser)
n.886A>C
c.989A>C (p.Tyr330Ser)
19g.7184379T=CA2320796133INSRc.911A= (p.Tyr304=)
n.886A=
c.989A= (p.Tyr330=)
19g.7184380A>CCA403669766INSRc.910T>G (p.Tyr304Asp)
n.885T>G
c.988T>G (p.Tyr330Asp)
19g.7184380A>GCA403669768INSRc.910T>C (p.Tyr304His)
n.885T>C
c.988T>C (p.Tyr330His)
19g.7184380A>TCA403669767INSRc.910T>A (p.Tyr304Asn)
n.885T>A
c.988T>A (p.Tyr330Asn)
19g.7184381C>ACA9135986INSRc.909G>T (p.Gln303His)
n.884G>T
c.987G>T (p.Gln329His)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7184381C=CA2320796136INSRc.909G= (p.Gln303=)
n.884G=
c.987G= (p.Gln329=)
19g.7184381C>GCA403669769INSRc.909G>C (p.Gln303His)
n.884G>C
c.987G>C (p.Gln329His)
19g.7184381C>TCA9135985INSRc.909G>A (p.Gln303=)
n.884G>A
c.987G>A (p.Gln329=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7184382T>ACA403669770INSRc.908A>T (p.Gln303Leu)
n.883A>T
c.986A>T (p.Gln329Leu)
19g.7184382T>CCA403669771INSRc.908A>G (p.Gln303Arg)
n.883A>G
c.986A>G (p.Gln329Arg)
19g.7184382T>GCA403669772INSRc.908A>C (p.Gln303Pro)
n.883A>C
c.986A>C (p.Gln329Pro)
19g.7184383G>ACA403669773INSRc.907C>T (p.Gln303Ter)
n.882C>T
c.985C>T (p.Gln329Ter)
19g.7184383G>CCA403669774INSRc.907C>G (p.Gln303Glu)
n.882C>G
c.985C>G (p.Gln329Glu)
19g.7184383G=CA2320796137INSRc.907C= (p.Gln303=)
n.882C=
c.985C= (p.Gln329=)
19g.7184383G>TCA403669775INSRc.907C>A (p.Gln303Lys)
n.882C>A
c.985C>A (p.Gln329Lys)
dbSNP gnomAD v4
19g.7184384G>ACA505400336INSRc.906C>T (p.His302=)
n.881C>T
c.984C>T (p.His328=)
19g.7184384G>CCA403669776INSRc.906C>G (p.His302Gln)
n.881C>G
c.984C>G (p.His328Gln)
19g.7184384G>TCA403669777INSRc.906C>A (p.His302Gln)
n.881C>A
c.984C>A (p.His328Gln)
19g.7184385T>ACA403669778INSRc.905A>T (p.His302Leu)
n.880A>T
c.983A>T (p.His328Leu)
19g.7184385T>CCA403669779INSRc.905A>G (p.His302Arg)
n.880A>G
c.983A>G (p.His328Arg)
19g.7184385T>GCA403669780INSRc.905A>C (p.His302Pro)
n.880A>C
c.983A>C (p.His328Pro)
19g.7184386G>ACA403669781INSRc.904C>T (p.His302Tyr)
n.879C>T
c.982C>T (p.His328Tyr)
19g.7184386G>CCA403669782INSRc.904C>G (p.His302Asp)
n.879C>G
c.982C>G (p.His328Asp)
19g.7184386G>TCA403669783INSRc.904C>A (p.His302Asn)
n.879C>A
c.982C>A (p.His328Asn)

Number of alleles fetched