Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67940197_67940246delinsGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCA2229563255LCATc.981_1030delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC (p.Gly327=)
c.156-172_156-123delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC
c.719_768delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC (n.719_768delinsACTCCCAGCACCTGGTGTGGAAGTATACTGTCTTTACGGCGTGGGCCTGC)
16g.67940199_67940247delCA723097333LCATc.981_1029del (p.Leu328ProfsTer?)
c.156-172_156-124del
c.719_767del (n.719_767del)
dbSNP gnomAD v3 gnomAD v4
16g.67940210_67940233delCA2633850898LCATc.996_1019del (p.Val333_Gly340del)
c.156-157_156-134del
c.734_757del (n.734_757del)
gnomAD v4
16g.67940229A>CCA396375896LCATc.998T>G (p.Val333Gly)
c.156-155T>G
c.736T>G (n.736T>G)
16g.67940229A>GCA396375897LCATc.998T>C (p.Val333Ala)
c.156-155T>C
c.736T>C (n.736T>C)
16g.67940229A>TCA396375898LCATc.998T>A (p.Val333Glu)
c.156-155T>A
c.736T>A (n.736T>A)
16g.67940230C>ACA396375899LCATc.997G>T (p.Val333Leu)
c.156-156G>T
c.735G>T (n.735G>T)
16g.67940230C=CA2229563271LCATc.997G= (p.Val333=)
c.156-156G=
c.735G= (n.735G=)
16g.67940230C>GCA396375900LCATc.997G>C (p.Val333Leu)
c.156-156G>C
c.735G>C (n.735G>C)
16g.67940230C>TCA8120920LCATc.997G>A (p.Val333Met)
c.156-156G>A
c.735G>A (n.735G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940231A>CCA496384080LCATc.996T>G (p.Gly332=)
c.156-157T>G
c.734T>G (n.734T>G)
16g.67940231A>GCA496384082LCATc.996T>C (p.Gly332=)
c.156-157T>C
c.734T>C (n.734T>C)
16g.67940231A>TCA496384081LCATc.996T>A (p.Gly332=)
c.156-157T>A
c.734T>A (n.734T>A)
16g.67940232C>ACA396375901LCATc.995G>T (p.Gly332Val)
c.156-158G>T
c.733G>T (n.733G>T)
16g.67940232C>GCA396375902LCATc.995G>C (p.Gly332Ala)
c.156-158G>C
c.733G>C (n.733G>C)
16g.67940232C>TCA396375903LCATc.995G>A (p.Gly332Asp)
c.156-158G>A
c.733G>A (n.733G>A)
16g.67940233C>ACA396375905LCATc.994G>T (p.Gly332Cys)
c.156-159G>T
c.732G>T (n.732G>T)
16g.67940233C=CA2229563272LCATc.994G= (p.Gly332=)
c.156-159G=
c.732G= (n.732G=)
16g.67940233C>GCA396375904LCATc.994G>C (p.Gly332Arg)
c.156-159G>C
c.732G>C (n.732G>C)
gnomAD v4
16g.67940233C>TCA283160801LCATc.994G>A (p.Gly332Ser)
c.156-159G>A
c.732G>A (n.732G>A)
dbSNP
16g.67940234A>CCA496384083LCATc.993T>G (p.Pro331=)
c.156-160T>G
c.731T>G (n.731T>G)
gnomAD v4
16g.67940234A>GCA496384084LCATc.993T>C (p.Pro331=)
c.156-160T>C
c.731T>C (n.731T>C)
gnomAD v4
16g.67940234A>TCA496384085LCATc.993T>A (p.Pro331=)
c.156-160T>A
c.731T>A (n.731T>A)
16g.67940235G>ACA396375906LCATc.992C>T (p.Pro331Leu)
c.156-161C>T
c.730C>T (n.730C>T)
dbSNP gnomAD v4
16g.67940235G>CCA396375908LCATc.992C>G (p.Pro331Arg)
c.156-161C>G
c.730C>G (n.730C>G)
16g.67940235G=CA2229563273LCATc.992C= (p.Pro331=)
c.156-161C=
c.730C= (n.730C=)
16g.67940235G>TCA396375907LCATc.992C>A (p.Pro331His)
c.156-161C>A
c.730C>A (n.730C>A)
16g.67940236G>ACA396375909LCATc.991C>T (p.Pro331Ser)
c.156-162C>T
c.729C>T (n.729C>T)
16g.67940236G>CCA396375910LCATc.991C>G (p.Pro331Ala)
c.156-162C>G
c.729C>G (n.729C>G)
16g.67940236G>TCA396375911LCATc.991C>A (p.Pro331Thr)
c.156-162C>A
c.729C>A (n.729C>A)
16g.67940236_67940247dupCA723097401LCATc.980_991dup (p.Ala330_Pro331insArgLeuProAla)
c.156-173_156-162dup
c.718_729dup (n.718_729dup)
dbSNP gnomAD v3 gnomAD v4
16g.67940237T>ACA496384086LCATc.990A>T (p.Ala330=)
c.156-163A>T
c.728A>T (n.728A>T)
16g.67940237T>CCA496384088LCATc.990A>G (p.Ala330=)
c.156-163A>G
c.728A>G (n.728A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.67940237T>GCA496384087LCATc.990A>C (p.Ala330=)
c.156-163A>C
c.728A>C (n.728A>C)
16g.67940237T=CA2229563274LCATc.990A= (p.Ala330=)
c.156-163A=
c.728A= (n.728A=)
16g.67940238G>ACA396375912LCATc.989C>T (p.Ala330Val)
c.156-164C>T
c.727C>T (n.727C>T)
COSMIC
16g.67940238G>CCA396375913LCATc.989C>G (p.Ala330Gly)
c.156-164C>G
c.727C>G (n.727C>G)
16g.67940238G>TCA396375914LCATc.989C>A (p.Ala330Glu)
c.156-164C>A
c.727C>A (n.727C>A)
gnomAD v4
16g.67940239C>ACA396375915LCATc.988G>T (p.Ala330Ser)
c.156-165G>T
c.726G>T (n.726G>T)
16g.67940239C=CA2229563275LCATc.988G= (p.Ala330=)
c.156-165G=
c.726G= (n.726G=)
16g.67940239C>GCA396375916LCATc.988G>C (p.Ala330Pro)
c.156-165G>C
c.726G>C (n.726G>C)
gnomAD v4
16g.67940239C>TCA8120921LCATc.988G>A (p.Ala330Thr)
c.156-165G>A
c.726G>A (n.726G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940240T>ACA496384089LCATc.987A>T (p.Pro329=)
c.156-166A>T
c.725A>T (n.725A>T)
16g.67940240T>CCA496384090LCATc.987A>G (p.Pro329=)
c.156-166A>G
c.725A>G (n.725A>G)
16g.67940240T>GCA496384091LCATc.987A>C (p.Pro329=)
c.156-166A>C
c.725A>C (n.725A>C)
16g.67940241G>ACA396375917LCATc.986C>T (p.Pro329Leu)
c.156-167C>T
c.724C>T (n.724C>T)
dbSNP gnomAD v4
16g.67940241G>CCA396375918LCATc.986C>G (p.Pro329Arg)
c.156-167C>G
c.724C>G (n.724C>G)
16g.67940241G=CA2229563276LCATc.986C= (p.Pro329=)
c.156-167C=
c.724C= (n.724C=)
16g.67940241G>TCA396375919LCATc.986C>A (p.Pro329Gln)
c.156-167C>A
c.724C>A (n.724C>A)
16g.67940242G>ACA396375920LCATc.985C>T (p.Pro329Ser)
c.156-168C>T
c.723C>T (n.723C>T)
16g.67940242G>CCA396375922LCATc.985C>G (p.Pro329Ala)
c.156-168C>G
c.723C>G (n.723C>G)
16g.67940242G>TCA396375921LCATc.985C>A (p.Pro329Thr)
c.156-168C>A
c.723C>A (n.723C>A)
16g.67940243G>ACA283160815LCATc.984C>T (p.Leu328=)
c.156-169C>T
c.722C>T (n.722C>T)
dbSNP
16g.67940243G>CCA496384092LCATc.984C>G (p.Leu328=)
c.156-169C>G
c.722C>G (n.722C>G)
dbSNP
16g.67940243G=CA2229563277LCATc.984C= (p.Leu328=)
c.156-169C=
c.722C= (n.722C=)
16g.67940243G>TCA496384093LCATc.984C>A (p.Leu328=)
c.156-169C>A
c.722C>A (n.722C>A)
16g.67940244A>CCA396375923LCATc.983T>G (p.Leu328Arg)
c.156-170T>G
c.721T>G (n.721T>G)
16g.67940244A>GCA396375924LCATc.983T>C (p.Leu328Pro)
c.156-170T>C
c.721T>C (n.721T>C)
16g.67940244A>TCA396375925LCATc.983T>A (p.Leu328His)
c.156-170T>A
c.721T>A (n.721T>A)
16g.67940245G>ACA396375926LCATc.982C>T (p.Leu328Phe)
c.156-171C>T
c.720C>T (n.720C>T)
dbSNP gnomAD v4
16g.67940245G>CCA396375927LCATc.982C>G (p.Leu328Val)
c.156-171C>G
c.720C>G (n.720C>G)
16g.67940245G=CA2229563278LCATc.982C= (p.Leu328=)
c.156-171C=
c.720C= (n.720C=)
16g.67940245G>TCA396375928LCATc.982C>A (p.Leu328Ile)
c.156-171C>A
c.720C>A (n.720C>A)
16g.67940246T>ACA496384095LCATc.981A>T (p.Gly327=)
c.156-172A>T
c.765A>T (p.Gly255=)
c.719A>T (n.719A>T)
16g.67940246T>CCA496384094LCATc.981A>G (p.Gly327=)
c.156-172A>G
c.765A>G (p.Gly255=)
c.719A>G (n.719A>G)
16g.67940246T>GCA8120922LCATc.981A>C (p.Gly327=)
c.156-172A>C
c.765A>C (p.Gly255=)
c.719A>C (n.719A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940246T=CA2229563279LCATc.981A= (p.Gly327=)
c.156-172A=
c.765A= (p.Gly255=)
c.719A= (n.719A=)
16g.67940247C>ACA8120923LCATc.980G>T (p.Gly327Val)
c.156-173G>T
c.764G>T (p.Gly255Val)
c.718G>T (n.718G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940247C=CA2229563280LCATc.980G= (p.Gly327=)
c.156-173G=
c.764G= (p.Gly255=)
c.718G= (n.718G=)
16g.67940247C>GCA396375929LCATc.980G>C (p.Gly327Ala)
c.156-173G>C
c.764G>C (p.Gly255Ala)
c.718G>C (n.718G>C)
16g.67940247C>TCA396375930LCATc.980G>A (p.Gly327Glu)
c.156-173G>A
c.764G>A (p.Gly255Glu)
c.718G>A (n.718G>A)
16g.67940248C>ACA396375933LCATc.979G>T (p.Gly327Ter)
c.156-174G>T
c.763G>T (p.Gly255Ter)
c.717G>T (n.717G>T)
16g.67940248C=CA2229563281LCATc.979G= (p.Gly327=)
c.156-174G=
c.763G= (p.Gly255=)
c.717G= (n.717G=)
16g.67940248C>GCA396375932LCATc.979G>C (p.Gly327Arg)
c.156-174G>C
c.763G>C (p.Gly255Arg)
c.717G>C (n.717G>C)
dbSNP gnomAD v3 gnomAD v4
16g.67940248C>TCA396375931LCATc.979G>A (p.Gly327Arg)
c.156-174G>A
c.763G>A (p.Gly255Arg)
c.717G>A (n.717G>A)
gnomAD v4
16g.67940249T>ACA496384096LCATc.978A>T (p.Ala326=)
c.156-175A>T
c.762A>T (p.Ala254=)
c.716A>T (n.716A>T)
16g.67940249T>CCA496384097LCATc.978A>G (p.Ala326=)
c.156-175A>G
c.762A>G (p.Ala254=)
c.716A>G (n.716A>G)
dbSNP
16g.67940249T>GCA496384098LCATc.978A>C (p.Ala326=)
c.156-175A>C
c.762A>C (p.Ala254=)
c.716A>C (n.716A>C)
gnomAD v4
16g.67940249T=CA2229563282LCATc.978A= (p.Ala326=)
c.156-175A=
c.762A= (p.Ala254=)
c.716A= (n.716A=)
16g.67940250G>ACA396375936LCATc.977C>T (p.Ala326Val)
c.156-176C>T
c.761C>T (p.Ala254Val)
c.715C>T (n.715C>T)
16g.67940250G>CCA396375934LCATc.977C>G (p.Ala326Gly)
c.156-176C>G
c.761C>G (p.Ala254Gly)
c.715C>G (n.715C>G)
16g.67940250G>TCA396375935LCATc.977C>A (p.Ala326Glu)
c.156-176C>A
c.761C>A (p.Ala254Glu)
c.715C>A (n.715C>A)
16g.67940251_67940263delCA2633850947LCATc.965_977del (p.Arg322GlnfsTer?)
c.156-188_156-176del
c.749_761del (p.Arg250GlnfsTer?)
c.703_715del (n.703_715del)
gnomAD v4
16g.67940251C>ACA396375937LCATc.976G>T (p.Ala326Ser)
c.156-177G>T
c.760G>T (p.Ala254Ser)
c.714G>T (n.714G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940251C=CA2229563283LCATc.976G= (p.Ala326=)
c.156-177G=
c.760G= (p.Ala254=)
c.714G= (n.714G=)
16g.67940251C>GCA396375938LCATc.976G>C (p.Ala326Pro)
c.156-177G>C
c.760G>C (p.Ala254Pro)
c.714G>C (n.714G>C)
16g.67940251C>TCA8120924LCATc.976G>A (p.Ala326Thr)
c.156-177G>A
c.760G>A (p.Ala254Thr)
c.714G>A (n.714G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940252C>ACA496384099LCATc.975G>T (p.Leu325=)
c.156-178G>T
c.759G>T (p.Leu253=)
c.713G>T (n.713G>T)
16g.67940252C>GCA496384101LCATc.975G>C (p.Leu325=)
c.156-178G>C
c.759G>C (p.Leu253=)
c.713G>C (n.713G>C)
16g.67940252C>TCA496384100LCATc.975G>A (p.Leu325=)
c.156-178G>A
c.759G>A (p.Leu253=)
c.713G>A (n.713G>A)
gnomAD v4
16g.67940252_67940255delinsCAGGCA2229563284LCATc.972_975delinsCCTG (p.Leu324=)
c.156-181_156-178delinsCCTG
c.756_759delinsCCTG (p.Leu252=)
c.710_713delinsCCTG (n.710_713delinsCCTG)
16g.67940253A=CA2229563285LCATc.974T= (p.Leu325=)
c.156-179T=
c.758T= (p.Leu253=)
c.712T= (n.712T=)
16g.67940253A>CCA396375941LCATc.974T>G (p.Leu325Arg)
c.156-179T>G
c.758T>G (p.Leu253Arg)
c.712T>G (n.712T>G)
16g.67940253A>GCA396375940LCATc.974T>C (p.Leu325Pro)
c.156-179T>C
c.758T>C (p.Leu253Pro)
c.712T>C (n.712T>C)
dbSNP gnomAD v2
16g.67940253A>TCA396375939LCATc.974T>A (p.Leu325Gln)
c.156-179T>A
c.758T>A (p.Leu253Gln)
c.712T>A (n.712T>A)
16g.67940256_67940258delCA116428LCATc.972_974del (p.Leu325del)
c.156-181_156-179del
c.756_758del (p.Leu253del)
c.710_712del (n.710_712del)
ClinVar dbSNP gnomAD v4
16g.67940254G>ACA496384102LCATc.973C>T (p.Leu325=)
c.156-180C>T
c.757C>T (p.Leu253=)
c.711C>T (n.711C>T)
COSMIC
16g.67940254G>CCA396375942LCATc.973C>G (p.Leu325Val)
c.156-180C>G
c.757C>G (p.Leu253Val)
c.711C>G (n.711C>G)
16g.67940254G>TCA396375943LCATc.973C>A (p.Leu325Met)
c.156-180C>A
c.757C>A (p.Leu253Met)
c.711C>A (n.711C>A)
16g.67940255G>ACA283160834LCATc.972C>T (p.Leu324=)
c.156-181C>T
c.756C>T (p.Leu252=)
c.710C>T (n.710C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.67940255G>CCA496384103LCATc.972C>G (p.Leu324=)
c.156-181C>G
c.756C>G (p.Leu252=)
c.710C>G (n.710C>G)
16g.67940255G=CA2229563286LCATc.972C= (p.Leu324=)
c.156-181C=
c.756C= (p.Leu252=)
c.710C= (n.710C=)
16g.67940255G>TCA496384104LCATc.972C>A (p.Leu324=)
c.156-181C>A
c.756C>A (p.Leu252=)
c.710C>A (n.710C>A)
16g.67940256A>CCA396375944LCATc.971T>G (p.Leu324Arg)
c.156-182T>G
c.755T>G (p.Leu252Arg)
c.709T>G (n.709T>G)
16g.67940256A>GCA396375945LCATc.971T>C (p.Leu324Pro)
c.156-182T>C
c.755T>C (p.Leu252Pro)
c.709T>C (n.709T>C)
16g.67940256A>TCA396375946LCATc.971T>A (p.Leu324His)
c.156-182T>A
c.755T>A (p.Leu252His)
c.709T>A (n.709T>A)
dbSNP
16g.67940257G>ACA396375947LCATc.970C>T (p.Leu324Phe)
c.156-183C>T
c.754C>T (p.Leu252Phe)
c.708C>T (n.708C>T)
gnomAD v4
16g.67940257G>CCA396375949LCATc.970C>G (p.Leu324Val)
c.156-183C>G
c.754C>G (p.Leu252Val)
c.708C>G (n.708C>G)
dbSNP gnomAD v4
16g.67940257G>TCA396375948LCATc.970C>A (p.Leu324Ile)
c.156-183C>A
c.754C>A (p.Leu252Ile)
c.708C>A (n.708C>A)
COSMIC
16g.67940258G>ACA496384105LCATc.969C>T (p.Asp323=)
c.156-184C>T
c.753C>T (p.Asp251=)
c.707C>T (n.707C>T)
gnomAD v4
16g.67940258G>CCA396375950LCATc.969C>G (p.Asp323Glu)
c.156-184C>G
c.753C>G (p.Asp251Glu)
c.707C>G (n.707C>G)
16g.67940258G=CA2229563287LCATc.969C= (p.Asp323=)
c.156-184C=
c.753C= (p.Asp251=)
c.707C= (n.707C=)
16g.67940258G>TCA396375951LCATc.969C>A (p.Asp323Glu)
c.156-184C>A
c.753C>A (p.Asp251Glu)
c.707C>A (n.707C>A)
dbSNP
16g.67940259T>ACA396375952LCATc.968A>T (p.Asp323Val)
c.156-185A>T
c.752A>T (p.Asp251Val)
c.706A>T (n.706A>T)
16g.67940259T>CCA8120925LCATc.968A>G (p.Asp323Gly)
c.156-185A>G
c.752A>G (p.Asp251Gly)
c.706A>G (n.706A>G)
dbSNP ExAC
16g.67940259T>GCA396375953LCATc.968A>C (p.Asp323Ala)
c.156-185A>C
c.752A>C (p.Asp251Ala)
c.706A>C (n.706A>C)
16g.67940259T=CA2229563288LCATc.968A= (p.Asp323=)
c.156-185A=
c.752A= (p.Asp251=)
c.706A= (n.706A=)
16g.67940260C>ACA396375954LCATc.967G>T (p.Asp323Tyr)
c.156-186G>T
c.751G>T (p.Asp251Tyr)
c.705G>T (n.705G>T)
16g.67940260C>GCA396375955LCATc.967G>C (p.Asp323His)
c.156-186G>C
c.751G>C (p.Asp251His)
c.705G>C (n.705G>C)
16g.67940260C>TCA396375956LCATc.967G>A (p.Asp323Asn)
c.156-186G>A
c.751G>A (p.Asp251Asn)
c.705G>A (n.705G>A)
16g.67940261A>CCA496384108LCATc.966T>G (p.Arg322=)
c.156-187T>G
c.750T>G (p.Arg250=)
c.704T>G (n.704T>G)
16g.67940261A>GCA496384107LCATc.966T>C (p.Arg322=)
c.156-187T>C
c.750T>C (p.Arg250=)
c.704T>C (n.704T>C)
16g.67940261A>TCA496384106LCATc.966T>A (p.Arg322=)
c.156-187T>A
c.750T>A (p.Arg250=)
c.704T>A (n.704T>A)
16g.67940262C>ACA396375957LCATc.965G>T (p.Arg322Leu)
c.156-188G>T
c.749G>T (p.Arg250Leu)
c.703G>T (n.703G>T)
16g.67940262C=CA2229563289LCATc.965G= (p.Arg322=)
c.156-188G=
c.749G= (p.Arg250=)
c.703G= (n.703G=)
16g.67940262C>GCA396375958LCATc.965G>C (p.Arg322Pro)
c.156-188G>C
c.749G>C (p.Arg250Pro)
c.703G>C (n.703G>C)
16g.67940262C>TCA8120926LCATc.965G>A (p.Arg322His)
c.156-188G>A
c.749G>A (p.Arg250His)
c.703G>A (n.703G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940263G>ACA396375960LCATc.964C>T (p.Arg322Cys)
c.156-189C>T
c.748C>T (p.Arg250Cys)
c.702C>T (n.702C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940263G>CCA396375961LCATc.964C>G (p.Arg322Gly)
c.156-189C>G
c.748C>G (p.Arg250Gly)
c.702C>G (n.702C>G)
16g.67940263G=CA2229563290LCATc.964C= (p.Arg322=)
c.156-189C=
c.748C= (p.Arg250=)
c.702C= (n.702C=)
16g.67940263G>TCA396375959LCATc.964C>A (p.Arg322Ser)
c.156-189C>A
c.748C>A (p.Arg250Ser)
c.702C>A (n.702C>A)
16g.67940264T>ACA496384109LCATc.963A>T (p.Ser321=)
c.156-190A>T
c.747A>T (p.Ser249=)
c.701A>T (n.701A>T)
16g.67940264T>CCA496384110LCATc.963A>G (p.Ser321=)
c.156-190A>G
c.747A>G (p.Ser249=)
c.701A>G (n.701A>G)
16g.67940264T>GCA496384111LCATc.963A>C (p.Ser321=)
c.156-190A>C
c.747A>C (p.Ser249=)
c.701A>C (n.701A>C)
16g.67940264_67940266delCA2576033448LCATc.961_963del (p.Ser321del)
c.156-192_156-190del
c.745_747del (p.Ser249del)
c.699_701del (n.699_701del)
16g.67940265G>ACA396375962LCATc.962C>T (p.Ser321Leu)
c.156-191C>T
c.746C>T (p.Ser249Leu)
c.700C>T (n.700C>T)
COSMIC
16g.67940265G>CCA396375963LCATc.962C>G (p.Ser321Ter)
c.156-191C>G
c.746C>G (p.Ser249Ter)
c.700C>G (n.700C>G)
16g.67940265G>TCA396375964LCATc.962C>A (p.Ser321Ter)
c.156-191C>A
c.746C>A (p.Ser249Ter)
c.700C>A (n.700C>A)
16g.67940266A>CCA396375965LCATc.961T>G (p.Ser321Ala)
c.156-192T>G
c.745T>G (p.Ser249Ala)
c.699T>G (n.699T>G)
16g.67940266A>GCA396375966LCATc.961T>C (p.Ser321Pro)
c.156-192T>C
c.745T>C (p.Ser249Pro)
c.699T>C (n.699T>C)
16g.67940266A>TCA396375967LCATc.961T>A (p.Ser321Thr)
c.156-192T>A
c.745T>A (p.Ser249Thr)
c.699T>A (n.699T>A)
16g.67940267C>ACA396375968LCATc.960G>T (p.Gln320His)
c.156-193G>T
c.744G>T (p.Gln248His)
c.698G>T (n.698G>T)
16g.67940267C>GCA396375969LCATc.960G>C (p.Gln320His)
c.156-193G>C
c.744G>C (p.Gln248His)
c.698G>C (n.698G>C)
16g.67940267C>TCA496384112LCATc.960G>A (p.Gln320=)
c.156-193G>A
c.744G>A (p.Gln248=)
c.698G>A (n.698G>A)
16g.67940268T>ACA396375970LCATc.959A>T (p.Gln320Leu)
c.156-194A>T
c.743A>T (p.Gln248Leu)
c.697A>T (n.697A>T)
16g.67940268T>CCA396375971LCATc.959A>G (p.Gln320Arg)
c.156-194A>G
c.743A>G (p.Gln248Arg)
c.697A>G (n.697A>G)
16g.67940268T>GCA396375972LCATc.959A>C (p.Gln320Pro)
c.156-194A>C
c.743A>C (p.Gln248Pro)
c.697A>C (n.697A>C)
16g.67940269G>ACA396375973LCATc.958C>T (p.Gln320Ter)
c.156-195C>T
c.742C>T (p.Gln248Ter)
c.696C>T (n.696C>T)
gnomAD v4
16g.67940269G>CCA396375974LCATc.958C>G (p.Gln320Glu)
c.156-195C>G
c.742C>G (p.Gln248Glu)
c.696C>G (n.696C>G)
16g.67940269G>TCA396375975LCATc.958C>A (p.Gln320Lys)
c.156-195C>A
c.742C>A (p.Gln248Lys)
c.696C>A (n.696C>A)
16g.67940270C>ACA496384113LCATc.957G>T (p.Leu319=)
c.156-196G>T
c.741G>T (p.Leu247=)
c.695G>T (n.695G>T)
16g.67940270C>GCA496384114LCATc.957G>C (p.Leu319=)
c.156-196G>C
c.741G>C (p.Leu247=)
c.695G>C (n.695G>C)
16g.67940270C>TCA496384115LCATc.957G>A (p.Leu319=)
c.156-196G>A
c.741G>A (p.Leu247=)
c.695G>A (n.695G>A)
gnomAD v4
16g.67940271A>CCA396375978LCATc.956T>G (p.Leu319Arg)
c.156-197T>G
c.740T>G (p.Leu247Arg)
c.694T>G (n.694T>G)
16g.67940271A>GCA396375977LCATc.956T>C (p.Leu319Pro)
c.156-197T>C
c.740T>C (p.Leu247Pro)
c.694T>C (n.694T>C)
dbSNP
16g.67940271A>TCA396375976LCATc.956T>A (p.Leu319Gln)
c.156-197T>A
c.740T>A (p.Leu247Gln)
c.694T>A (n.694T>A)
16g.67940272G>ACA496384116LCATc.955C>T (p.Leu319=)
c.156-198C>T
c.739C>T (p.Leu247=)
c.693C>T (n.693C>T)
16g.67940272G>CCA396375979LCATc.955C>G (p.Leu319Val)
c.156-198C>G
c.739C>G (p.Leu247Val)
c.693C>G (n.693C>G)
16g.67940272G>TCA396375980LCATc.955C>A (p.Leu319Met)
c.156-198C>A
c.739C>A (p.Leu247Met)
c.693C>A (n.693C>A)
16g.67940273C>ACA396375981LCATc.954G>T (p.Trp318Cys)
c.156-199G>T
c.738G>T (p.Trp246Cys)
c.692G>T (n.692G>T)
16g.67940273C>GCA396375982LCATc.954G>C (p.Trp318Cys)
c.156-199G>C
c.738G>C (p.Trp246Cys)
c.692G>C (n.692G>C)
16g.67940273C>TCA396375983LCATc.954G>A (p.Trp318Ter)
c.156-199G>A
c.738G>A (p.Trp246Ter)
c.692G>A (n.692G>A)
16g.67940274C>ACA396375984LCATc.953G>T (p.Trp318Leu)
c.156-200G>T
c.737G>T (p.Trp246Leu)
c.691G>T (n.691G>T)
16g.67940274C>GCA396375985LCATc.953G>C (p.Trp318Ser)
c.156-200G>C
c.737G>C (p.Trp246Ser)
c.691G>C (n.691G>C)
16g.67940274C>TCA396375986LCATc.953G>A (p.Trp318Ter)
c.156-200G>A
c.737G>A (p.Trp246Ter)
c.691G>A (n.691G>A)
16g.67940275A>CCA396375987LCATc.952T>G (p.Trp318Gly)
c.156-201T>G
c.736T>G (p.Trp246Gly)
c.690T>G (n.690T>G)
16g.67940275A>GCA396375988LCATc.952T>C (p.Trp318Arg)
c.156-201T>C
c.736T>C (p.Trp246Arg)
c.690T>C (n.690T>C)
16g.67940275A>TCA396375989LCATc.952T>A (p.Trp318Arg)
c.156-201T>A
c.736T>A (p.Trp246Arg)
c.690T>A (n.690T>A)
16g.67940276C>ACA396375990LCATc.951G>T (p.Met317Ile)
c.156-202G>T
c.735G>T (p.Met245Ile)
c.689G>T (n.689G>T)
16g.67940276C=CA2229563291LCATc.951G= (p.Met317=)
c.156-202G=
c.735G= (p.Met245=)
c.689G= (n.689G=)
16g.67940276C>GCA396375991LCATc.951G>C (p.Met317Ile)
c.156-202G>C
c.735G>C (p.Met245Ile)
c.689G>C (n.689G>C)
16g.67940276C>TCA116414LCATc.951G>A (p.Met317Ile)
c.156-202G>A
c.735G>A (p.Met245Ile)
c.689G>A (n.689G>A)
ClinVar dbSNP gnomAD v4
16g.67940277A=CA2229563292LCATc.950T= (p.Met317=)
c.156-203T=
c.734T= (p.Met245=)
c.688T= (n.688T=)
16g.67940277A>CCA8120927LCATc.950T>G (p.Met317Arg)
c.156-203T>G
c.734T>G (p.Met245Arg)
c.688T>G (n.688T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940277A>GCA396375993LCATc.950T>C (p.Met317Thr)
c.156-203T>C
c.734T>C (p.Met245Thr)
c.688T>C (n.688T>C)
gnomAD v4
16g.67940277A>TCA396375992LCATc.950T>A (p.Met317Lys)
c.156-203T>A
c.734T>A (p.Met245Lys)
c.688T>A (n.688T>A)
16g.67940278T>ACA396375994LCATc.949A>T (p.Met317Leu)
c.156-204A>T
c.733A>T (p.Met245Leu)
c.687A>T (n.687A>T)
16g.67940278T>CCA396375995LCATc.949A>G (p.Met317Val)
c.156-204A>G
c.733A>G (p.Met245Val)
c.687A>G (n.687A>G)
gnomAD v4
16g.67940278T>GCA8120928LCATc.949A>C (p.Met317Leu)
c.156-204A>C
c.733A>C (p.Met245Leu)
c.687A>C (n.687A>C)
dbSNP ExAC gnomAD v2
16g.67940278T=CA2229563293LCATc.949A= (p.Met317=)
c.156-204A=
c.733A= (p.Met245=)
c.687A= (n.687A=)
16g.67940279G>ACA496384117LCATc.948C>T (p.Tyr316=)
c.156-205C>T
c.732C>T (p.Tyr244=)
c.686C>T (n.686C>T)
gnomAD v4
16g.67940279G>CCA396375996LCATc.948C>G (p.Tyr316Ter)
c.156-205C>G
c.732C>G (p.Tyr244Ter)
c.686C>G (n.686C>G)
16g.67940279G>TCA396375997LCATc.948C>A (p.Tyr316Ter)
c.156-205C>A
c.732C>A (p.Tyr244Ter)
c.686C>A (n.686C>A)
16g.67940280T>ACA396376000LCATc.947A>T (p.Tyr316Phe)
c.156-206A>T
c.731A>T (p.Tyr244Phe)
c.685A>T (n.685A>T)
16g.67940280T>CCA396375999LCATc.947A>G (p.Tyr316Cys)
c.156-206A>G
c.731A>G (p.Tyr244Cys)
c.685A>G (n.685A>G)
16g.67940280T>GCA396375998LCATc.947A>C (p.Tyr316Ser)
c.156-206A>C
c.731A>C (p.Tyr244Ser)
c.685A>C (n.685A>C)
16g.67940281A>CCA396376001LCATc.946T>G (p.Tyr316Asp)
c.156-207T>G
c.730T>G (p.Tyr244Asp)
c.684T>G (n.684T>G)
16g.67940281A>GCA396376002LCATc.946T>C (p.Tyr316His)
c.156-207T>C
c.730T>C (p.Tyr244His)
c.684T>C (n.684T>C)
dbSNP gnomAD v3 gnomAD v4
16g.67940281A>TCA396376003LCATc.946T>A (p.Tyr316Asn)
c.156-207T>A
c.730T>A (p.Tyr244Asn)
c.684T>A (n.684T>A)
16g.67940282C>ACA396376004LCATc.945G>T (p.Trp315Cys)
c.156-208G>T
c.729G>T (p.Trp243Cys)
c.683G>T (n.683G>T)
16g.67940282C>GCA396376005LCATc.945G>C (p.Trp315Cys)
c.156-208G>C
c.729G>C (p.Trp243Cys)
c.683G>C (n.683G>C)
16g.67940282C>TCA396376006LCATc.945G>A (p.Trp315Ter)
c.156-208G>A
c.729G>A (p.Trp243Ter)
c.683G>A (n.683G>A)
16g.67940283C>ACA396376007LCATc.944G>T (p.Trp315Leu)
c.156-209G>T
c.728G>T (p.Trp243Leu)
c.682G>T (n.682G>T)
16g.67940283C=CA2229563294LCATc.944G= (p.Trp315=)
c.156-209G=
c.728G= (p.Trp243=)
c.682G= (n.682G=)
16g.67940283C>GCA396376009LCATc.944G>C (p.Trp315Ser)
c.156-209G>C
c.728G>C (p.Trp243Ser)
c.682G>C (n.682G>C)
dbSNP
16g.67940283C>TCA396376008LCATc.944G>A (p.Trp315Ter)
c.156-209G>A
c.728G>A (p.Trp243Ter)
c.682G>A (n.682G>A)
16g.67940284A>CCA396376010LCATc.943T>G (p.Trp315Gly)
c.156-210T>G
c.727T>G (p.Trp243Gly)
c.681T>G (n.681T>G)
16g.67940284A>GCA396376011LCATc.943T>C (p.Trp315Arg)
c.156-210T>C
c.727T>C (p.Trp243Arg)
c.681T>C (n.681T>C)
ClinVar gnomAD v4
16g.67940284A>TCA396376012LCATc.943T>A (p.Trp315Arg)
c.156-210T>A
c.727T>A (p.Trp243Arg)
c.681T>A (n.681T>A)
16g.67940285G>ACA496384118LCATc.942C>T (p.Gly314=)
c.156-211C>T
c.726C>T (p.Gly242=)
c.680C>T (n.680C>T)
dbSNP
16g.67940285G>CCA496384119LCATc.942C>G (p.Gly314=)
c.156-211C>G
c.726C>G (p.Gly242=)
c.680C>G (n.680C>G)
16g.67940285G=CA2229563295LCATc.942C= (p.Gly314=)
c.156-211C=
c.726C= (p.Gly242=)
c.680C= (n.680C=)
16g.67940285G>TCA496384120LCATc.942C>A (p.Gly314=)
c.156-211C>A
c.726C>A (p.Gly242=)
c.680C>A (n.680C>A)
16g.67940286C>ACA396376013LCATc.941G>T (p.Gly314Val)
c.156-212G>T
c.725G>T (p.Gly242Val)
c.679G>T (n.679G>T)
16g.67940286C>GCA396376014LCATc.941G>C (p.Gly314Ala)
c.156-212G>C
c.725G>C (p.Gly242Ala)
c.679G>C (n.679G>C)
16g.67940286C>TCA396376015LCATc.941G>A (p.Gly314Asp)
c.156-212G>A
c.725G>A (p.Gly242Asp)
c.679G>A (n.679G>A)
gnomAD v4
16g.67940287C>ACA396376016LCATc.940G>T (p.Gly314Cys)
c.156-213G>T
c.724G>T (p.Gly242Cys)
c.678G>T (n.678G>T)
16g.67940287C>GCA396376017LCATc.940G>C (p.Gly314Arg)
c.156-213G>C
c.724G>C (p.Gly242Arg)
c.678G>C (n.678G>C)
16g.67940287C>TCA396376018LCATc.940G>A (p.Gly314Ser)
c.156-213G>A
c.724G>A (p.Gly242Ser)
c.678G>A (n.678G>A)
16g.67940288T>ACA396376019LCATc.939A>T (p.Glu313Asp)
c.156-214A>T
c.723A>T (p.Glu241Asp)
c.677A>T (n.677A>T)
16g.67940288T>CCA496384121LCATc.939A>G (p.Glu313=)
c.156-214A>G
c.723A>G (p.Glu241=)
c.677A>G (n.677A>G)
COSMIC
16g.67940288T>GCA396376020LCATc.939A>C (p.Glu313Asp)
c.156-214A>C
c.723A>C (p.Glu241Asp)
c.677A>C (n.677A>C)
16g.67940289T>ACA396376023LCATc.938A>T (p.Glu313Val)
c.156-215A>T
c.722A>T (p.Glu241Val)
c.676A>T (n.676A>T)
16g.67940289T>CCA396376021LCATc.938A>G (p.Glu313Gly)
c.156-215A>G
c.722A>G (p.Glu241Gly)
c.676A>G (n.676A>G)
16g.67940289T>GCA396376022LCATc.938A>C (p.Glu313Ala)
c.156-215A>C
c.722A>C (p.Glu241Ala)
c.676A>C (n.676A>C)
16g.67940290C>ACA396376024LCATc.937G>T (p.Glu313Ter)
c.156-216G>T
c.721G>T (p.Glu241Ter)
c.675G>T (n.675G>T)
16g.67940290C=CA2229563296LCATc.937G= (p.Glu313=)
c.156-216G=
c.721G= (p.Glu241=)
c.675G= (n.675G=)
16g.67940290C>GCA396376025LCATc.937G>C (p.Glu313Gln)
c.156-216G>C
c.721G>C (p.Glu241Gln)
c.675G>C (n.675G>C)
16g.67940290C>TCA8120929LCATc.937G>A (p.Glu313Lys)
c.156-216G>A
c.721G>A (p.Glu241Lys)
c.675G>A (n.675G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940291C>ACA396376026LCATc.936G>T (p.Glu312Asp)
c.156-217G>T
c.720G>T (p.Glu240Asp)
c.674G>T (n.674G>T)
16g.67940291C=CA2229563297LCATc.936G= (p.Glu312=)
c.156-217G=
c.720G= (p.Glu240=)
c.674G= (n.674G=)
16g.67940291C>GCA396376027LCATc.936G>C (p.Glu312Asp)
c.156-217G>C
c.720G>C (p.Glu240Asp)
c.674G>C (n.674G>C)
16g.67940291C>TCA8120930LCATc.936G>A (p.Glu312=)
c.156-217G>A
c.720G>A (p.Glu240=)
c.674G>A (n.674G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940292T>ACA396376028LCATc.935A>T (p.Glu312Val)
c.156-218A>T
c.719A>T (p.Glu240Val)
c.673A>T (n.673A>T)
16g.67940292T>CCA396376029LCATc.935A>G (p.Glu312Gly)
c.156-218A>G
c.719A>G (p.Glu240Gly)
c.673A>G (n.673A>G)
gnomAD v4
16g.67940292T>GCA396376030LCATc.935A>C (p.Glu312Ala)
c.156-218A>C
c.719A>C (p.Glu240Ala)
c.673A>C (n.673A>C)
16g.67940293C>ACA396376031LCATc.934G>T (p.Glu312Ter)
c.156-219G>T
c.718G>T (p.Glu240Ter)
c.672G>T (n.672G>T)
16g.67940293C=CA2229563298LCATc.934G= (p.Glu312=)
c.156-219G=
c.718G= (p.Glu240=)
c.672G= (n.672G=)
16g.67940293C>GCA8120931LCATc.934G>C (p.Glu312Gln)
c.156-219G>C
c.718G>C (p.Glu240Gln)
c.672G>C (n.672G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940293C>TCA396376032LCATc.934G>A (p.Glu312Lys)
c.156-219G>A
c.718G>A (p.Glu240Lys)
c.672G>A (n.672G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940293_67940294delinsCACA2229563299LCATc.933_934delinsTG (p.Phe311=)
c.156-220_156-219delinsTG
c.717_718delinsTG (p.Phe239=)
c.671_672delinsTG (n.671_672delinsTG)
16g.67940294A>CCA396376033LCATc.933T>G (p.Phe311Leu)
c.156-220T>G
c.717T>G (p.Phe239Leu)
c.671T>G (n.671T>G)
16g.67940294A>GCA496384122LCATc.933T>C (p.Phe311=)
c.156-220T>C
c.717T>C (p.Phe239=)
c.671T>C (n.671T>C)
16g.67940294A>TCA396376034LCATc.933T>A (p.Phe311Leu)
c.156-220T>A
c.717T>A (p.Phe239Leu)
c.671T>A (n.671T>A)
16g.67940296delCA723097531LCATc.933del (p.Phe311LeufsTer?)
c.156-220del
c.717del (p.Phe239LeufsTer?)
c.671del (n.671del)
dbSNP
16g.67940295A>CCA396376037LCATc.932T>G (p.Phe311Cys)
c.156-221T>G
c.716T>G (p.Phe239Cys)
c.670T>G (n.670T>G)
16g.67940295A>GCA396376036LCATc.932T>C (p.Phe311Ser)
c.156-221T>C
c.716T>C (p.Phe239Ser)
c.670T>C (n.670T>C)
16g.67940295A>TCA396376035LCATc.932T>A (p.Phe311Tyr)
c.156-221T>A
c.716T>A (p.Phe239Tyr)
c.670T>A (n.670T>A)
16g.67940296A>CCA396376038LCATc.931T>G (p.Phe311Val)
c.156-222T>G
c.715T>G (p.Phe239Val)
c.669T>G (n.669T>G)
16g.67940296A>GCA396376039LCATc.931T>C (p.Phe311Leu)
c.156-222T>C
c.715T>C (p.Phe239Leu)
c.669T>C (n.669T>C)
16g.67940296A>TCA396376040LCATc.931T>A (p.Phe311Ile)
c.156-222T>A
c.715T>A (p.Phe239Ile)
c.669T>A (n.669T>A)
16g.67940297G>ACA496384123LCATc.930C>T (p.His310=)
c.156-223C>T
c.714C>T (p.His238=)
c.668C>T (n.668C>T)
COSMIC
16g.67940297G>CCA396376041LCATc.930C>G (p.His310Gln)
c.156-223C>G
c.714C>G (p.His238Gln)
c.668C>G (n.668C>G)
16g.67940297G>TCA396376042LCATc.930C>A (p.His310Gln)
c.156-223C>A
c.714C>A (p.His238Gln)
c.668C>A (n.668C>A)
16g.67940298T>ACA396376043LCATc.929A>T (p.His310Leu)
c.156-224A>T
c.713A>T (p.His238Leu)
c.667A>T (n.667A>T)
gnomAD v4
16g.67940298T>CCA396376044LCATc.929A>G (p.His310Arg)
c.156-224A>G
c.713A>G (p.His238Arg)
c.667A>G (n.667A>G)
gnomAD v4
16g.67940298T>GCA396376045LCATc.929A>C (p.His310Pro)
c.156-224A>C
c.713A>C (p.His238Pro)
c.667A>C (n.667A>C)
dbSNP gnomAD v2 gnomAD v4
16g.67940298T=CA2229563300LCATc.929A= (p.His310=)
c.156-224A=
c.713A= (p.His238=)
c.667A= (n.667A=)
16g.67940299G>ACA396376046LCATc.928C>T (p.His310Tyr)
c.156-225C>T
c.712C>T (p.His238Tyr)
c.666C>T (n.666C>T)
gnomAD v4
16g.67940299G>CCA396376047LCATc.928C>G (p.His310Asp)
c.156-225C>G
c.712C>G (p.His238Asp)
c.666C>G (n.666C>G)
16g.67940299G>TCA396376048LCATc.928C>A (p.His310Asn)
c.156-225C>A
c.712C>A (p.His238Asn)
c.666C>A (n.666C>A)
16g.67940300C>ACA496384124LCATc.927G>T (p.Leu309=)
c.156-226G>T
c.711G>T (p.Leu237=)
c.665G>T (n.665G>T)
16g.67940300C=CA2229563301LCATc.927G= (p.Leu309=)
c.156-226G=
c.711G= (p.Leu237=)
c.665G= (n.665G=)
16g.67940300C>GCA283160899LCATc.927G>C (p.Leu309=)
c.156-226G>C
c.711G>C (p.Leu237=)
c.665G>C (n.665G>C)
dbSNP
16g.67940300C>TCA496384125LCATc.927G>A (p.Leu309=)
c.156-226G>A
c.711G>A (p.Leu237=)
c.665G>A (n.665G>A)
gnomAD v4
16g.67940301A>CCA396376049LCATc.926T>G (p.Leu309Arg)
c.156-227T>G
c.710T>G (p.Leu237Arg)
c.664T>G (n.664T>G)
16g.67940301A>GCA396376050LCATc.926T>C (p.Leu309Pro)
c.156-227T>C
c.710T>C (p.Leu237Pro)
c.664T>C (n.664T>C)
gnomAD v4
16g.67940301A>TCA396376051LCATc.926T>A (p.Leu309Gln)
c.156-227T>A
c.710T>A (p.Leu237Gln)
c.664T>A (n.664T>A)
16g.67940302G>ACA8120933LCATc.925C>T (p.Leu309=)
c.156-228C>T
c.709C>T (p.Leu237=)
c.663C>T (n.663C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940302G>CCA8120932LCATc.925C>G (p.Leu309Val)
c.156-228C>G
c.709C>G (p.Leu237Val)
c.663C>G (n.663C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940302G=CA2229563302LCATc.925C= (p.Leu309=)
c.156-228C=
c.709C= (p.Leu237=)
c.663C= (n.663C=)
16g.67940302G>TCA396376052LCATc.925C>A (p.Leu309Met)
c.156-228C>A
c.709C>A (p.Leu237Met)
c.663C>A (n.663C>A)
16g.67940303G>ACA496384126LCATc.924C>T (p.Asp308=)
c.156-229C>T
c.708C>T (p.Asp236=)
c.662C>T (n.662C>T)
16g.67940303G>CCA396376053LCATc.924C>G (p.Asp308Glu)
c.156-229C>G
c.708C>G (p.Asp236Glu)
c.662C>G (n.662C>G)
16g.67940303G>TCA396376054LCATc.924C>A (p.Asp308Glu)
c.156-229C>A
c.708C>A (p.Asp236Glu)
c.662C>A (n.662C>A)
gnomAD v4
16g.67940304T>ACA396376055LCATc.923A>T (p.Asp308Val)
c.156-230A>T
c.707A>T (p.Asp236Val)
c.661A>T (n.661A>T)
16g.67940304T>CCA396376056LCATc.923A>G (p.Asp308Gly)
c.156-230A>G
c.707A>G (p.Asp236Gly)
c.661A>G (n.661A>G)
16g.67940304T>GCA396376057LCATc.923A>C (p.Asp308Ala)
c.156-230A>C
c.707A>C (p.Asp236Ala)
c.661A>C (n.661A>C)
16g.67940305C>ACA396376058LCATc.922G>T (p.Asp308Tyr)
c.156-231G>T
c.706G>T (p.Asp236Tyr)
c.660G>T (n.660G>T)
16g.67940305C>GCA396376059LCATc.922G>C (p.Asp308His)
c.156-231G>C
c.706G>C (p.Asp236His)
c.660G>C (n.660G>C)
16g.67940305C>TCA396376060LCATc.922G>A (p.Asp308Asn)
c.156-231G>A
c.706G>A (p.Asp236Asn)
c.660G>A (n.660G>A)
16g.67940306T>ACA496384127LCATc.921A>T (p.Ala307=)
c.156-232A>T
c.705A>T (p.Ala235=)
c.659A>T (n.659A>T)
16g.67940306T>CCA496384128LCATc.921A>G (p.Ala307=)
c.156-232A>G
c.705A>G (p.Ala235=)
c.659A>G (n.659A>G)
16g.67940306T>GCA496384129LCATc.921A>C (p.Ala307=)
c.156-232A>C
c.705A>C (p.Ala235=)
c.659A>C (n.659A>C)
16g.67940307G>ACA396376061LCATc.920C>T (p.Ala307Val)
c.156-233C>T
c.704C>T (p.Ala235Val)
c.658C>T (n.658C>T)
16g.67940307G>CCA396376062LCATc.920C>G (p.Ala307Gly)
c.156-233C>G
c.704C>G (p.Ala235Gly)
c.658C>G (n.658C>G)
16g.67940307G>TCA396376063LCATc.920C>A (p.Ala307Glu)
c.156-233C>A
c.704C>A (p.Ala235Glu)
c.658C>A (n.658C>A)
16g.67940308C>ACA396376064LCATc.919G>T (p.Ala307Ser)
c.156-234G>T
c.703G>T (p.Ala235Ser)
c.657G>T (n.657G>T)
16g.67940308C>GCA396376065LCATc.919G>C (p.Ala307Pro)
c.156-234G>C
c.703G>C (p.Ala235Pro)
c.657G>C (n.657G>C)
16g.67940308C>TCA396376066LCATc.919G>A (p.Ala307Thr)
c.156-234G>A
c.703G>A (p.Ala235Thr)
c.657G>A (n.657G>A)
16g.67940309A=CA2229563303LCATc.918T= (p.Phe306=)
c.156-235T=
c.702T= (p.Phe234=)
c.656T= (n.656T=)
16g.67940309A>CCA396376067LCATc.918T>G (p.Phe306Leu)
c.156-235T>G
c.702T>G (p.Phe234Leu)
c.656T>G (n.656T>G)
16g.67940309A>GCA496384130LCATc.918T>C (p.Phe306=)
c.156-235T>C
c.702T>C (p.Phe234=)
c.656T>C (n.656T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.67940309A>TCA396376068LCATc.918T>A (p.Phe306Leu)
c.156-235T>A
c.702T>A (p.Phe234Leu)
c.656T>A (n.656T>A)
16g.67940310A>CCA396376069LCATc.917T>G (p.Phe306Cys)
c.156-236T>G
c.701T>G (p.Phe234Cys)
c.655T>G (n.655T>G)
16g.67940310A>GCA396376070LCATc.917T>C (p.Phe306Ser)
c.156-236T>C
c.701T>C (p.Phe234Ser)
c.655T>C (n.655T>C)
16g.67940310A>TCA396376071LCATc.917T>A (p.Phe306Tyr)
c.156-236T>A
c.701T>A (p.Phe234Tyr)
c.655T>A (n.655T>A)
16g.67940311A>CCA396376072LCATc.916T>G (p.Phe306Val)
c.156-237T>G
c.700T>G (p.Phe234Val)
c.654T>G (n.654T>G)
16g.67940311A>GCA396376073LCATc.916T>C (p.Phe306Leu)
c.156-237T>C
c.700T>C (p.Phe234Leu)
c.654T>C (n.654T>C)
gnomAD v4
16g.67940311A>TCA396376074LCATc.916T>A (p.Phe306Ile)
c.156-237T>A
c.700T>A (p.Phe234Ile)
c.654T>A (n.654T>A)
16g.67940312G>ACA496384131LCATc.915C>T (p.Phe305=)
c.156-238C>T
c.699C>T (p.Phe233=)
c.653C>T (n.653C>T)
16g.67940312G>CCA396376075LCATc.915C>G (p.Phe305Leu)
c.156-238C>G
c.699C>G (p.Phe233Leu)
c.653C>G (n.653C>G)
16g.67940312G>TCA396376076LCATc.915C>A (p.Phe305Leu)
c.156-238C>A
c.699C>A (p.Phe233Leu)
c.653C>A (n.653C>A)
16g.67940313A>CCA396376077LCATc.914T>G (p.Phe305Cys)
c.156-239T>G
c.698T>G (p.Phe233Cys)
c.652T>G (n.652T>G)
16g.67940313A>GCA396376078LCATc.914T>C (p.Phe305Ser)
c.156-239T>C
c.698T>C (p.Phe233Ser)
c.652T>C (n.652T>C)
16g.67940313A>TCA396376079LCATc.914T>A (p.Phe305Tyr)
c.156-239T>A
c.698T>A (p.Phe233Tyr)
c.652T>A (n.652T>A)
gnomAD v4
16g.67940314A>CCA396376080LCATc.913T>G (p.Phe305Val)
c.156-240T>G
c.697T>G (p.Phe233Val)
c.651T>G (n.651T>G)
16g.67940314A>GCA396376082LCATc.913T>C (p.Phe305Leu)
c.156-240T>C
c.697T>C (p.Phe233Leu)
c.651T>C (n.651T>C)
16g.67940314A>TCA396376081LCATc.913T>A (p.Phe305Ile)
c.156-240T>A
c.697T>A (p.Phe233Ile)
c.651T>A (n.651T>A)
16g.67940315G>ACA496384132LCATc.912C>T (p.Arg304=)
c.156-241C>T
c.696C>T (p.Arg232=)
c.650C>T (n.650C>T)
gnomAD v4
16g.67940315G>CCA496384134LCATc.912C>G (p.Arg304=)
c.156-241C>G
c.696C>G (p.Arg232=)
c.650C>G (n.650C>G)
16g.67940315G>TCA496384133LCATc.912C>A (p.Arg304=)
c.156-241C>A
c.696C>A (p.Arg232=)
c.650C>A (n.650C>A)
16g.67940316C>ACA396376083LCATc.911G>T (p.Arg304Leu)
c.156-242G>T
c.695G>T (p.Arg232Leu)
c.649G>T (n.649G>T)
16g.67940316C=CA2229563304LCATc.911G= (p.Arg304=)
c.156-242G=
c.695G= (p.Arg232=)
c.649G= (n.649G=)
16g.67940316C>GCA396376085LCATc.911G>C (p.Arg304Pro)
c.156-242G>C
c.695G>C (p.Arg232Pro)
c.649G>C (n.649G>C)
16g.67940316C>TCA396376084LCATc.911G>A (p.Arg304His)
c.156-242G>A
c.695G>A (p.Arg232His)
c.649G>A (n.649G>A)
dbSNP gnomAD v3 gnomAD v4
16g.67940317G>ACA396376086LCATc.910C>T (p.Arg304Cys)
c.156-243C>T
c.694C>T (p.Arg232Cys)
c.648C>T (n.648C>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.67940317G>CCA396376087LCATc.910C>G (p.Arg304Gly)
c.156-243C>G
c.694C>G (p.Arg232Gly)
c.648C>G (n.648C>G)
16g.67940317G=CA2229563305LCATc.910C= (p.Arg304=)
c.156-243C=
c.694C= (p.Arg232=)
c.648C= (n.648C=)
16g.67940317G>TCA396376088LCATc.910C>A (p.Arg304Ser)
c.156-243C>A
c.694C>A (p.Arg232Ser)
c.648C>A (n.648C>A)
16g.67940318T>ACA396376089LCATc.909A>T (p.Gln303His)
c.156-244A>T
c.693A>T (p.Gln231His)
c.647A>T (n.647A>T)
16g.67940318T>CCA496384135LCATc.909A>G (p.Gln303=)
c.156-244A>G
c.693A>G (p.Gln231=)
c.647A>G (n.647A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940318T>GCA396376090LCATc.909A>C (p.Gln303His)
c.156-244A>C
c.693A>C (p.Gln231His)
c.647A>C (n.647A>C)
16g.67940318T=CA2229563306LCATc.909A= (p.Gln303=)
c.156-244A=
c.693A= (p.Gln231=)
c.647A= (n.647A=)
16g.67940319T>ACA396376091LCATc.908A>T (p.Gln303Leu)
c.156-245A>T
c.692A>T (p.Gln231Leu)
c.646A>T (n.646A>T)
16g.67940319T>CCA396376092LCATc.908A>G (p.Gln303Arg)
c.156-245A>G
c.692A>G (p.Gln231Arg)
c.646A>G (n.646A>G)
16g.67940319T>GCA396376093LCATc.908A>C (p.Gln303Pro)
c.156-245A>C
c.692A>C (p.Gln231Pro)
c.646A>C (n.646A>C)
16g.67940320G>ACA396376094LCATc.907C>T (p.Gln303Ter)
c.156-246C>T
c.691C>T (p.Gln231Ter)
c.645C>T (n.645C>T)
16g.67940320G>CCA396376095LCATc.907C>G (p.Gln303Glu)
c.156-246C>G
c.691C>G (p.Gln231Glu)
c.645C>G (n.645C>G)
16g.67940320G>TCA396376096LCATc.907C>A (p.Gln303Lys)
c.156-246C>A
c.691C>A (p.Gln231Lys)
c.645C>A (n.645C>A)
16g.67940321G>ACA496384136LCATc.906C>T (p.Phe302=)
c.156-247C>T
c.690C>T (p.Phe230=)
c.644C>T (n.644C>T)
16g.67940321G>CCA396376097LCATc.906C>G (p.Phe302Leu)
c.156-247C>G
c.690C>G (p.Phe230Leu)
c.644C>G (n.644C>G)
16g.67940321G>TCA396376098LCATc.906C>A (p.Phe302Leu)
c.156-247C>A
c.690C>A (p.Phe230Leu)
c.644C>A (n.644C>A)
16g.67940322A>CCA396376101LCATc.905T>G (p.Phe302Cys)
c.156-248T>G
c.689T>G (p.Phe230Cys)
c.643T>G (n.643T>G)
16g.67940322A>GCA396376100LCATc.905T>C (p.Phe302Ser)
c.156-248T>C
c.689T>C (p.Phe230Ser)
c.643T>C (n.643T>C)
16g.67940322A>TCA396376099LCATc.905T>A (p.Phe302Tyr)
c.156-248T>A
c.689T>A (p.Phe230Tyr)
c.643T>A (n.643T>A)
16g.67940323A>CCA396376102LCATc.904T>G (p.Phe302Val)
c.156-249T>G
c.688T>G (p.Phe230Val)
c.642T>G (n.642T>G)
gnomAD v4
16g.67940323A>GCA396376103LCATc.904T>C (p.Phe302Leu)
c.156-249T>C
c.688T>C (p.Phe230Leu)
c.642T>C (n.642T>C)
16g.67940323A>TCA396376104LCATc.904T>A (p.Phe302Ile)
c.156-249T>A
c.688T>A (p.Phe230Ile)
c.642T>A (n.642T>A)
16g.67940324G>ACA8120934LCATc.903C>T (p.Asp301=)
c.156-250C>T
c.687C>T (p.Asp229=)
c.641C>T (n.641C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940324G>CCA396376105LCATc.903C>G (p.Asp301Glu)
c.156-250C>G
c.687C>G (p.Asp229Glu)
c.641C>G (n.641C>G)
16g.67940324G=CA2229563307LCATc.903C= (p.Asp301=)
c.156-250C=
c.687C= (p.Asp229=)
c.641C= (n.641C=)
16g.67940324G>TCA8120935LCATc.903C>A (p.Asp301Glu)
c.156-250C>A
c.687C>A (p.Asp229Glu)
c.641C>A (n.641C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940325T>ACA396376106LCATc.902A>T (p.Asp301Val)
c.156-251A>T
c.686A>T (p.Asp229Val)
c.640A>T (n.640A>T)
16g.67940325T>CCA396376107LCATc.902A>G (p.Asp301Gly)
c.156-251A>G
c.686A>G (p.Asp229Gly)
c.640A>G (n.640A>G)
gnomAD v4
16g.67940325T>GCA396376108LCATc.902A>C (p.Asp301Ala)
c.156-251A>C
c.686A>C (p.Asp229Ala)
c.640A>C (n.640A>C)
16g.67940326C>ACA396376109LCATc.901G>T (p.Asp301Tyr)
c.156-252G>T
c.685G>T (p.Asp229Tyr)
c.639G>T (n.639G>T)
16g.67940326C=CA2229563308LCATc.901G= (p.Asp301=)
c.156-252G=
c.685G= (p.Asp229=)
c.639G= (n.639G=)
16g.67940326C>GCA396376110LCATc.901G>C (p.Asp301His)
c.156-252G>C
c.685G>C (p.Asp229His)
c.639G>C (n.639G>C)
16g.67940326C>TCA283160905LCATc.901G>A (p.Asp301Asn)
c.156-252G>A
c.685G>A (p.Asp229Asn)
c.639G>A (n.639G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940327A=CA2229563309LCATc.900T= (p.Arg300=)
c.156-253T=
c.684T= (p.Arg228=)
c.638T= (n.638T=)
16g.67940327A>CCA496384137LCATc.900T>G (p.Arg300=)
c.156-253T>G
c.684T>G (p.Arg228=)
c.638T>G (n.638T>G)
gnomAD v4
16g.67940327A>GCA283160910LCATc.900T>C (p.Arg300=)
c.156-253T>C
c.684T>C (p.Arg228=)
c.638T>C (n.638T>C)
dbSNP gnomAD v3 gnomAD v4
16g.67940327A>TCA496384138LCATc.900T>A (p.Arg300=)
c.156-253T>A
c.684T>A (p.Arg228=)
c.638T>A (n.638T>A)
16g.67940328C>ACA396376111LCATc.899G>T (p.Arg300Leu)
c.156-254G>T
c.683G>T (p.Arg228Leu)
c.637G>T (n.637G>T)
16g.67940328C=CA2229563310LCATc.899G= (p.Arg300=)
c.156-254G=
c.683G= (p.Arg228=)
c.637G= (n.637G=)
16g.67940328C>GCA396376112LCATc.899G>C (p.Arg300Pro)
c.156-254G>C
c.683G>C (p.Arg228Pro)
c.637G>C (n.637G>C)
16g.67940328C>TCA8120936LCATc.899G>A (p.Arg300His)
c.156-254G>A
c.683G>A (p.Arg228His)
c.637G>A (n.637G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940329G>ACA8120937LCATc.898C>T (p.Arg300Cys)
c.156-255C>T
c.682C>T (p.Arg228Cys)
c.636C>T (n.636C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940329G>CCA396376113LCATc.898C>G (p.Arg300Gly)
c.156-255C>G
c.682C>G (p.Arg228Gly)
c.636C>G (n.636C>G)
16g.67940329G=CA2229563311LCATc.898C= (p.Arg300=)
c.156-255C=
c.682C= (p.Arg228=)
c.636C= (n.636C=)
16g.67940329G>TCA396376114LCATc.898C>A (p.Arg300Ser)
c.156-255C>A
c.682C>A (p.Arg228Ser)
c.636C>A (n.636C>A)

Number of alleles fetched