Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.209776017A>CCA430986407UNC80c.270A>C (p.Ala90=)
n.350A>C
c.-85A>C (n.-85A>C)
2g.209776017A>GCA430986409UNC80c.270A>G (p.Ala90=)
n.350A>G
c.-85A>G (n.-85A>G)
2g.209776017A>TCA430986408UNC80c.270A>T (p.Ala90=)
n.350A>T
c.-85A>T (n.-85A>T)
 gnomAD v4
2g.209776018A>CCA350130819UNC80c.271A>C (p.Thr91Pro)
n.351A>C
c.-84A>C (n.-84A>C)
2g.209776018A>GCA350130820UNC80c.271A>G (p.Thr91Ala)
n.351A>G
c.-84A>G (n.-84A>G)
2g.209776018A>TCA350130821UNC80c.271A>T (p.Thr91Ser)
n.351A>T
c.-84A>T (n.-84A>T)
2g.209776019C>ACA350130822UNC80c.272C>A (p.Thr91Asn)
n.352C>A
c.-83C>A (n.-83C>A)
 dbSNP gnomAD v2
2g.209776019C=CA1324702556UNC80c.272C= (p.Thr91=)
n.352C=
c.-83C= (n.-83C=)
2g.209776019C>GCA350130823UNC80c.272C>G (p.Thr91Ser)
n.352C>G
c.-83C>G (n.-83C>G)
2g.209776019C>TCA350130824UNC80c.272C>T (p.Thr91Ile)
n.352C>T
c.-83C>T (n.-83C>T)
2g.209776020C>ACA430986410UNC80c.273C>A (p.Thr91=)
n.353C>A
c.-82C>A (n.-82C>A)
2g.209776020C>GCA430986411UNC80c.273C>G (p.Thr91=)
n.353C>G
c.-82C>G (n.-82C>G)
2g.209776020C>TCA430986412UNC80c.273C>T (p.Thr91=)
n.353C>T
c.-82C>T (n.-82C>T)
2g.209776021C>ACA350130826UNC80c.274C>A (p.Leu92Met)
n.354C>A
c.-81C>A (n.-81C>A)
2g.209776021C>GCA350130825UNC80c.274C>G (p.Leu92Val)
n.354C>G
c.-81C>G (n.-81C>G)
2g.209776021C>TCA430986413UNC80c.274C>T (p.Leu92=)
n.354C>T
c.-81C>T (n.-81C>T)
2g.209776022T>ACA350130827UNC80c.275T>A (p.Leu92Gln)
n.355T>A
c.-80T>A (n.-80T>A)
2g.209776022T>CCA350130828UNC80c.275T>C (p.Leu92Pro)
n.355T>C
c.-80T>C (n.-80T>C)
 gnomAD v4
2g.209776022T>GCA350130829UNC80c.275T>G (p.Leu92Arg)
n.355T>G
c.-80T>G (n.-80T>G)
2g.209776023G>ACA430986414UNC80c.276G>A (p.Leu92=)
n.356G>A
c.-79G>A (n.-79G>A)
2g.209776023G>CCA430986415UNC80c.276G>C (p.Leu92=)
n.356G>C
c.-79G>C (n.-79G>C)
2g.209776023G>TCA430986416UNC80c.276G>T (p.Leu92=)
n.356G>T
c.-79G>T (n.-79G>T)
2g.209776024C>ACA2082700UNC80c.277C>A (p.Leu93Ile)
n.357C>A
c.-78C>A (n.-78C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776024C=CA1324702557UNC80c.277C= (p.Leu93=)
n.357C=
c.-78C= (n.-78C=)
2g.209776024C>GCA350130830UNC80c.277C>G (p.Leu93Val)
n.357C>G
c.-78C>G (n.-78C>G)
2g.209776024C>TCA350130831UNC80c.277C>T (p.Leu93Phe)
n.357C>T
c.-78C>T (n.-78C>T)
 gnomAD v4
2g.209776025T>ACA350130832UNC80c.278T>A (p.Leu93His)
n.358T>A
c.-77T>A (n.-77T>A)
2g.209776025T>CCA350130833UNC80c.278T>C (p.Leu93Pro)
n.358T>C
c.-77T>C (n.-77T>C)
2g.209776025T>GCA350130834UNC80c.278T>G (p.Leu93Arg)
n.358T>G
c.-77T>G (n.-77T>G)
2g.209776026T>ACA430986419UNC80c.279T>A (p.Leu93=)
n.359T>A
c.-76T>A (n.-76T>A)
2g.209776026T>CCA430986417UNC80c.279T>C (p.Leu93=)
n.359T>C
c.-76T>C (n.-76T>C)
2g.209776026T>GCA430986418UNC80c.279T>G (p.Leu93=)
n.359T>G
c.-76T>G (n.-76T>G)
 gnomAD v4
2g.209776026_209776027insGTTTCGGTTTGAAAGCAGGGTTGCAGTGCAGCA2830544238UNC80c.279_280insGTTTCGGTTTGAAAGCAGGGTTGCAGTGCAG (p.Ser94ValfsTer4)
n.359_360insGTTTCGGTTTGAAAGCAGGGTTGCAGTGCAG
c.-76_-75insGTTTCGGTTTGAAAGCAGGGTTGCAGTGCAG (n.-76_-75insGTTTCGGTTTGAAAGCAGGGTTGCAGTGCAG)
2g.209776027T>ACA350130835UNC80c.280T>A (p.Ser94Thr)
n.360T>A
c.-75T>A (n.-75T>A)
2g.209776027T>CCA350130836UNC80c.280T>C (p.Ser94Pro)
n.360T>C
c.-75T>C (n.-75T>C)
2g.209776027T>GCA350130837UNC80c.280T>G (p.Ser94Ala)
n.360T>G
c.-75T>G (n.-75T>G)
2g.209776028C>ACA350130839UNC80c.281C>A (p.Ser94Ter)
n.361C>A
c.-74C>A (n.-74C>A)
 gnomAD v4
2g.209776028C>GCA350130840UNC80c.281C>G (p.Ser94Ter)
n.361C>G
c.-74C>G (n.-74C>G)
2g.209776028C>TCA350130838UNC80c.281C>T (p.Ser94Leu)
n.361C>T
c.-74C>T (n.-74C>T)
2g.209776029A>CCA430986420UNC80c.282A>C (p.Ser94=)
n.362A>C
c.-73A>C (n.-73A>C)
 gnomAD v4
2g.209776029A>GCA430986421UNC80c.282A>G (p.Ser94=)
n.362A>G
c.-73A>G (n.-73A>G)
2g.209776029A>TCA430986422UNC80c.282A>T (p.Ser94=)
n.362A>T
c.-73A>T (n.-73A>T)
2g.209776030A>CCA350130843UNC80c.283A>C (p.Asn95His)
n.363A>C
c.-72A>C (n.-72A>C)
2g.209776030A>GCA350130841UNC80c.283A>G (p.Asn95Asp)
n.363A>G
c.-72A>G (n.-72A>G)
2g.209776030A>TCA350130842UNC80c.283A>T (p.Asn95Tyr)
n.363A>T
c.-72A>T (n.-72A>T)
2g.209776031A>CCA350130844UNC80c.284A>C (p.Asn95Thr)
n.364A>C
c.-71A>C (n.-71A>C)
2g.209776031A>GCA350130845UNC80c.284A>G (p.Asn95Ser)
n.364A>G
c.-71A>G (n.-71A>G)
2g.209776031A>TCA350130846UNC80c.284A>T (p.Asn95Ile)
n.364A>T
c.-71A>T (n.-71A>T)
2g.209776032C>ACA2082701UNC80c.285C>A (p.Asn95Lys)
n.365C>A
c.-70C>A (n.-70C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776032C=CA1324702558UNC80c.285C= (p.Asn95=)
n.365C=
c.-70C= (n.-70C=)
2g.209776032C>GCA350130847UNC80c.285C>G (p.Asn95Lys)
n.365C>G
c.-70C>G (n.-70C>G)
2g.209776032C>TCA430986423UNC80c.285C>T (p.Asn95=)
n.365C>T
c.-70C>T (n.-70C>T)
 COSMIC COSMIC
2g.209776033C>ACA430986424UNC80c.286C>A (p.Arg96=)
n.366C>A
c.-69C>A (n.-69C>A)
 dbSNP
2g.209776033C=CA1324702559UNC80c.286C= (p.Arg96=)
n.366C=
c.-69C= (n.-69C=)
2g.209776033C>GCA350130848UNC80c.286C>G (p.Arg96Gly)
n.366C>G
c.-69C>G (n.-69C>G)
2g.209776033C>TCA2082702UNC80c.286C>T (p.Arg96Ter)
n.366C>T
c.-69C>T (n.-69C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.209776034G>ACA2082703UNC80c.287G>A (p.Arg96Gln)
n.367G>A
c.-68G>A (n.-68G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.209776034G>CCA350130849UNC80c.287G>C (p.Arg96Pro)
n.367G>C
c.-68G>C (n.-68G>C)
2g.209776034G=CA1324702560UNC80c.287G= (p.Arg96=)
n.367G=
c.-68G= (n.-68G=)
2g.209776034G>TCA350130850UNC80c.287G>T (p.Arg96Leu)
n.367G>T
c.-68G>T (n.-68G>T)
 dbSNP
2g.209776035A=CA1324702561UNC80c.288A= (p.Arg96=)
n.368A=
c.-67A= (n.-67A=)
2g.209776035A>CCA430986425UNC80c.288A>C (p.Arg96=)
n.368A>C
c.-67A>C (n.-67A>C)
 dbSNP gnomAD v4
2g.209776035A>GCA430986426UNC80c.288A>G (p.Arg96=)
n.368A>G
c.-67A>G (n.-67A>G)
2g.209776035A>TCA430986427UNC80c.288A>T (p.Arg96=)
n.368A>T
c.-67A>T (n.-67A>T)
2g.209776036A>CCA350130851UNC80c.289A>C (p.Asn97His)
n.369A>C
c.-66A>C (n.-66A>C)
2g.209776036A>GCA350130852UNC80c.289A>G (p.Asn97Asp)
n.369A>G
c.-66A>G (n.-66A>G)
 gnomAD v4
2g.209776036A>TCA350130853UNC80c.289A>T (p.Asn97Tyr)
n.369A>T
c.-66A>T (n.-66A>T)
2g.209776037A>CCA350130854UNC80c.290A>C (p.Asn97Thr)
n.370A>C
c.-65A>C (n.-65A>C)
2g.209776037A>GCA350130856UNC80c.290A>G (p.Asn97Ser)
n.370A>G
c.-65A>G (n.-65A>G)
2g.209776037A>TCA350130855UNC80c.290A>T (p.Asn97Ile)
n.370A>T
c.-65A>T (n.-65A>T)
2g.209776038C>ACA350130857UNC80c.291C>A (p.Asn97Lys)
n.371C>A
c.-64C>A (n.-64C>A)
2g.209776038C>GCA350130858UNC80c.291C>G (p.Asn97Lys)
n.371C>G
c.-64C>G (n.-64C>G)
2g.209776038C>TCA430986428UNC80c.291C>T (p.Asn97=)
n.371C>T
c.-64C>T (n.-64C>T)
2g.209776039A>CCA350130859UNC80c.292A>C (p.Lys98Gln)
n.372A>C
c.-63A>C (n.-63A>C)
2g.209776039A>GCA350130860UNC80c.292A>G (p.Lys98Glu)
n.372A>G
c.-63A>G (n.-63A>G)
2g.209776039A>TCA350130861UNC80c.292A>T (p.Lys98Ter)
n.372A>T
c.-63A>T (n.-63A>T)
2g.209776040A>CCA350130862UNC80c.293A>C (p.Lys98Thr)
n.373A>C
c.-62A>C (n.-62A>C)
2g.209776040A>GCA350130863UNC80c.293A>G (p.Lys98Arg)
n.373A>G
c.-62A>G (n.-62A>G)
2g.209776040A>TCA350130864UNC80c.293A>T (p.Lys98Met)
n.373A>T
c.-62A>T (n.-62A>T)
2g.209776041G>ACA430986429UNC80c.294G>A (p.Lys98=)
n.374G>A
c.-61G>A (n.-61G>A)
 gnomAD v4
2g.209776041G>CCA350130865UNC80c.294G>C (p.Lys98Asn)
n.374G>C
c.-61G>C (n.-61G>C)
2g.209776041G>TCA350130866UNC80c.294G>T (p.Lys98Asn)
n.374G>T
c.-61G>T (n.-61G>T)
2g.209776042C>ACA350130867UNC80c.295C>A (p.Leu99Ile)
n.375C>A
c.-60C>A (n.-60C>A)
2g.209776042C=CA1324702562UNC80c.295C= (p.Leu99=)
n.375C=
c.-60C= (n.-60C=)
2g.209776042C>GCA350130868UNC80c.295C>G (p.Leu99Val)
n.375C>G
c.-60C>G (n.-60C>G)
2g.209776042C>TCA430986430UNC80c.295C>T (p.Leu99=)
n.375C>T
c.-60C>T (n.-60C>T)
 dbSNP gnomAD v4
2g.209776043T>ACA350130869UNC80c.296T>A (p.Leu99Gln)
n.376T>A
c.-59T>A (n.-59T>A)
2g.209776043T>CCA350130871UNC80c.296T>C (p.Leu99Pro)
n.376T>C
c.-59T>C (n.-59T>C)
2g.209776043T>GCA350130870UNC80c.296T>G (p.Leu99Arg)
n.376T>G
c.-59T>G (n.-59T>G)
2g.209776044A>CCA430986431UNC80c.297A>C (p.Leu99=)
n.377A>C
c.-58A>C (n.-58A>C)
2g.209776044A>GCA430986432UNC80c.297A>G (p.Leu99=)
n.377A>G
c.-58A>G (n.-58A>G)
 ClinVar dbSNP
2g.209776044A>TCA430986433UNC80c.297A>T (p.Leu99=)
n.377A>T
c.-58A>T (n.-58A>T)
2g.209776045G>ACA350130872UNC80c.298G>A (p.Gly100Ser)
n.378G>A
c.-57G>A (n.-57G>A)
2g.209776045G>CCA350130873UNC80c.298G>C (p.Gly100Arg)
n.378G>C
c.-57G>C (n.-57G>C)
 gnomAD v4
2g.209776045G>TCA350130874UNC80c.298G>T (p.Gly100Cys)
n.378G>T
c.-57G>T (n.-57G>T)
2g.209776046G>ACA350130875UNC80c.298+1G>A (n.298+1G>A)
n.378+1G>A
c.-57+1G>A (n.-57+1G>A)
2g.209776046G>CCA350130876UNC80c.298+1G>C (n.298+1G>C)
n.378+1G>C
c.-57+1G>C (n.-57+1G>C)
2g.209776046G>TCA350130877UNC80c.298+1G>T (n.298+1G>T)
n.378+1G>T
c.-57+1G>T (n.-57+1G>T)
2g.209776047T>ACA350130878UNC80c.298+2T>A (n.298+2T>A)
n.378+2T>A
c.-57+2T>A (n.-57+2T>A)
2g.209776047T>CCA2082704UNC80c.298+2T>C (n.298+2T>C)
n.378+2T>C
c.-57+2T>C (n.-57+2T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776047T>GCA350130879UNC80c.298+2T>G (n.298+2T>G)
n.378+2T>G
c.-57+2T>G (n.-57+2T>G)
2g.209776047T=CA1324702563UNC80c.298+2T= (n.298+2T=)
n.378+2T=
c.-57+2T= (n.-57+2T=)
2g.209776048T>ACA539101109UNC80c.298+3T>A (n.298+3T>A)
n.378+3T>A
c.-57+3T>A (n.-57+3T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.209776048T>CCA2580065489UNC80c.298+3T>C (n.298+3T>C)
n.378+3T>C
c.-57+3T>C (n.-57+3T>C)
 ClinVar
2g.209776048T=CA1324702564UNC80c.298+3T= (n.298+3T=)
n.378+3T=
c.-57+3T= (n.-57+3T=)
2g.209776051T>CCA2662896444UNC80c.298+6T>C (n.298+6T>C)
n.378+6T>C
c.-57+6T>C (n.-57+6T>C)
 gnomAD v4
2g.209776052G>ACA539101110UNC80c.298+7G>A (n.298+7G>A)
n.378+7G>A
c.-57+7G>A (n.-57+7G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.209776052G=CA1324702565UNC80c.298+7G= (n.298+7G=)
n.378+7G=
c.-57+7G= (n.-57+7G=)
2g.209776052G>TCA64645142UNC80c.298+7G>T (n.298+7G>T)
n.378+7G>T
c.-57+7G>T (n.-57+7G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.209776053C>TCA2754087547UNC80c.298+8C>T (n.298+8C>T)
n.378+8C>T
c.-57+8C>T (n.-57+8C>T)
2g.209776054C=CA1324702566UNC80c.298+9C= (n.298+9C=)
n.378+9C=
c.-57+9C= (n.-57+9C=)
2g.209776054C>GCA2082705UNC80c.298+9C>G (n.298+9C>G)
n.378+9C>G
c.-57+9C>G (n.-57+9C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776056C=CA1324702567UNC80c.298+11C= (n.298+11C=)
n.378+11C=
c.-57+11C= (n.-57+11C=)
2g.209776056C>GCA2082707UNC80c.298+11C>G (n.298+11C>G)
n.378+11C>G
c.-57+11C>G (n.-57+11C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776056C>TCA2082706UNC80c.298+11C>T (n.298+11C>T)
n.378+11C>T
c.-57+11C>T (n.-57+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776057G>ACA2082708UNC80c.298+12G>A (n.298+12G>A)
n.378+12G>A
c.-57+12G>A (n.-57+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776057G=CA1324702568UNC80c.298+12G= (n.298+12G=)
n.378+12G=
c.-57+12G= (n.-57+12G=)
2g.209776058C=CA1324702569UNC80c.298+13C= (n.298+13C=)
n.378+13C=
c.-57+13C= (n.-57+13C=)
2g.209776058C>TCA64645176UNC80c.298+13C>T (n.298+13C>T)
n.378+13C>T
c.-57+13C>T (n.-57+13C>T)
 dbSNP
2g.209776059A=CA1324702570UNC80c.298+14A= (n.298+14A=)
n.378+14A=
c.-57+14A= (n.-57+14A=)
2g.209776059A>GCA2082709UNC80c.298+14A>G (n.298+14A>G)
n.378+14A>G
c.-57+14A>G (n.-57+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776062A>GCA2662896461UNC80c.298+17A>G (n.298+17A>G)
n.378+17A>G
c.-57+17A>G (n.-57+17A>G)
 gnomAD v4
2g.209776063C>GCA2662896463UNC80c.298+18C>G (n.298+18C>G)
n.378+18C>G
c.-57+18C>G (n.-57+18C>G)
 gnomAD v4
2g.209776063C>TCA2577228187UNC80c.298+18C>T (n.298+18C>T)
n.378+18C>T
c.-57+18C>T (n.-57+18C>T)
2g.209776065T>CCA1324702572UNC80c.298+20T>C (n.298+20T>C)
n.378+20T>C
c.-57+20T>C (n.-57+20T>C)
 dbSNP
2g.209776065T=CA1324702571UNC80c.298+20T= (n.298+20T=)
n.378+20T=
c.-57+20T= (n.-57+20T=)
2g.209776066C=CA1324702573UNC80c.298+21C= (n.298+21C=)
n.378+21C=
c.-57+21C= (n.-57+21C=)
2g.209776067T>CCA64645186UNC80c.298+22T>C (n.298+22T>C)
n.378+22T>C
c.-57+22T>C (n.-57+22T>C)
 dbSNP
2g.209776067T=CA1324702574UNC80c.298+22T= (n.298+22T=)
n.378+22T=
c.-57+22T= (n.-57+22T=)
2g.209776069_209776070insTTTTTCA539101123UNC80c.298+24_298+25insTTTTT (n.298+24_298+25insTTTTT)
n.378+24_378+25insTTTTT
c.-57+24_-57+25insTTTTT (n.-57+24_-57+25insTTTTT)
 gnomAD v2 gnomAD v4
2g.209776069_209776070insTTTTTTCA2082710UNC80c.298+24_298+25insTTTTTT (n.298+24_298+25insTTTTTT)
n.378+24_378+25insTTTTTT
c.-57+24_-57+25insTTTTTT (n.-57+24_-57+25insTTTTTT)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776069_209776070insTTTTTTTCA539101127UNC80c.298+24_298+25insTTTTTTT (n.298+24_298+25insTTTTTTT)
n.378+24_378+25insTTTTTTT
c.-57+24_-57+25insTTTTTTT (n.-57+24_-57+25insTTTTTTT)
 gnomAD v2 gnomAD v4
2g.209776069_209776070insTTTTTTTTTCA2082711UNC80c.298+24_298+25insTTTTTTTTT (n.298+24_298+25insTTTTTTTTT)
n.378+24_378+25insTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTT)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTCA539101129UNC80c.298+24_298+25insTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTT)
 gnomAD v2 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTCA2082712UNC80c.298+24_298+25insTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTT)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTCA2662896479UNC80c.298+24_298+25insTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTT)
 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTCA2530951839UNC80c.298+24_298+25insTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTT)
 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTCA2662896477UNC80c.298+24_298+25insTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTT)
 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTTTTCA1041851270UNC80c.298+24_298+25insTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTCA2662896476UNC80c.298+24_298+25insTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTCA539101132UNC80c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTTCA2662896474UNC80c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1041851285UNC80c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2607330027UNC80c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
2g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA539101134UNC80c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
2g.209776069T>CCA539101137UNC80c.298+24T>C (n.298+24T>C)
n.378+24T>C
c.-57+24T>C (n.-57+24T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.209776069T=CA1324702575UNC80c.298+24T= (n.298+24T=)
n.378+24T=
c.-57+24T= (n.-57+24T=)
2g.209776070A=CA1324702576UNC80c.298+25A= (n.298+25A=)
n.378+25A=
c.-57+25A= (n.-57+25A=)
2g.209776070A>TCA2082713UNC80c.298+25A>T (n.298+25A>T)
n.378+25A>T
c.-57+25A>T (n.-57+25A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776072T=CA1324702577UNC80c.298+27T= (n.298+27T=)
n.378+27T=
c.-57+27T= (n.-57+27T=)
2g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCA2662896485UNC80c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCT (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCT)
n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCT
c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCT (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCT)
 gnomAD v4
2g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCTCA2662896486UNC80c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT)
n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT
c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT)
 gnomAD v4
2g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTCA2662896487UNC80c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT)
n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT
c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT)
 gnomAD v4
2g.209776072_209776086delinsTGCATGTGATTGCCCCA1324702578UNC80c.298+27_298+41delinsTGCATGTGATTGCCC (n.298+27_298+41delinsTGCATGTGATTGCCC)
n.378+27_378+41delinsTGCATGTGATTGCCC
c.-57+27_-57+41delinsTGCATGTGATTGCCC (n.-57+27_-57+41delinsTGCATGTGATTGCCC)
2g.209776072_209776073insTTTTTTTTTTGAGACGCA2082715UNC80c.298+27_298+28insTTTTTTTTTTGAGACG (n.298+27_298+28insTTTTTTTTTTGAGACG)
n.378+27_378+28insTTTTTTTTTTGAGACG
c.-57+27_-57+28insTTTTTTTTTTGAGACG (n.-57+27_-57+28insTTTTTTTTTTGAGACG)
 dbSNP ExAC
2g.209776072_209776073insTTTTTTTTTTTGAGACCA2662896488UNC80c.298+27_298+28insTTTTTTTTTTTGAGAC (n.298+27_298+28insTTTTTTTTTTTGAGAC)
n.378+27_378+28insTTTTTTTTTTTGAGAC
c.-57+27_-57+28insTTTTTTTTTTTGAGAC (n.-57+27_-57+28insTTTTTTTTTTTGAGAC)
 gnomAD v4
2g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCCA2662896490UNC80c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTC (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTC)
n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTC
c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTC (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTC)
 gnomAD v4
2g.209776072_209776073insTTTTTTTTTTTTTTTTTTTTTTTTGACGGCA2754087548UNC80c.298+27_298+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG (n.298+27_298+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG)
n.378+27_378+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG
c.-57+27_-57+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG (n.-57+27_-57+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG)
2g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCCA2082716UNC80c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC)
n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC
c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC)
 dbSNP ExAC
2g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCA2662896489UNC80c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC)
n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC
c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC)
 gnomAD v4
2g.209776073G=CA1324702579UNC80c.298+28G= (n.298+28G=)
n.378+28G=
c.-57+28G= (n.-57+28G=)
2g.209776073G>TCA2082717UNC80c.298+28G>T (n.298+28G>T)
n.378+28G>T
c.-57+28G>T (n.-57+28G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776073_209776086delCA2082714UNC80c.298+28_298+41del (n.298+28_298+41del)
n.378+28_378+41del
c.-57+28_-57+41del (n.-57+28_-57+41del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.209776073_209776074insAGACGGAGTCTCGCTCTGTCGCCCA539101143UNC80c.298+28_298+29insAGACGGAGTCTCGCTCTGTCGCC (n.298+28_298+29insAGACGGAGTCTCGCTCTGTCGCC)
n.378+28_378+29insAGACGGAGTCTCGCTCTGTCGCC
c.-57+28_-57+29insAGACGGAGTCTCGCTCTGTCGCC (n.-57+28_-57+29insAGACGGAGTCTCGCTCTGTCGCC)
 gnomAD v2
2g.209776074C>ACA2662896491UNC80c.298+29C>A (n.298+29C>A)
n.378+29C>A
c.-57+29C>A (n.-57+29C>A)
 gnomAD v4
2g.209776074C=CA1324702580UNC80c.298+29C= (n.298+29C=)
n.378+29C=
c.-57+29C= (n.-57+29C=)
2g.209776074C>GCA2662896492UNC80c.298+29C>G (n.298+29C>G)
n.378+29C>G
c.-57+29C>G (n.-57+29C>G)
 gnomAD v4
2g.209776074C>TCA2082718UNC80c.298+29C>T (n.298+29C>T)
n.378+29C>T
c.-57+29C>T (n.-57+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776075A=CA1324702581UNC80c.298+30A= (n.298+30A=)
n.378+30A=
c.-57+30A= (n.-57+30A=)
2g.209776075A>TCA2082719UNC80c.298+30A>T (n.298+30A>T)
n.378+30A>T
c.-57+30A>T (n.-57+30A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776076T>GCA2082720UNC80c.298+31T>G (n.298+31T>G)
n.378+31T>G
c.-57+31T>G (n.-57+31T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776076T=CA1324702582UNC80c.298+31T= (n.298+31T=)
n.378+31T=
c.-57+31T= (n.-57+31T=)
2g.209776077G>ACA64645262UNC80c.298+32G>A (n.298+32G>A)
n.378+32G>A
c.-57+32G>A (n.-57+32G>A)
 dbSNP
2g.209776077G=CA1324702583UNC80c.298+32G= (n.298+32G=)
n.378+32G=
c.-57+32G= (n.-57+32G=)
2g.209776078T>CCA539101145UNC80c.298+33T>C (n.298+33T>C)
n.378+33T>C
c.-57+33T>C (n.-57+33T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.209776078T>GCA2662896496UNC80c.298+33T>G (n.298+33T>G)
n.378+33T>G
c.-57+33T>G (n.-57+33T>G)
 gnomAD v4
2g.209776078T=CA1324702584UNC80c.298+33T= (n.298+33T=)
n.378+33T=
c.-57+33T= (n.-57+33T=)
2g.209776080A>GCA2662896498UNC80c.298+35A>G (n.298+35A>G)
n.378+35A>G
c.-57+35A>G (n.-57+35A>G)
 dbSNP gnomAD v4
2g.209776080A>TCA2662896497UNC80c.298+35A>T (n.298+35A>T)
n.378+35A>T
c.-57+35A>T (n.-57+35A>T)
 gnomAD v4
2g.209776083_209776084delinsGCCA1324702585UNC80c.298+38_298+39delinsGC (n.298+38_298+39delinsGC)
n.378+38_378+39delinsGC
c.-57+38_-57+39delinsGC (n.-57+38_-57+39delinsGC)
2g.209776084C>ACA2662896499UNC80c.298+39C>A (n.298+39C>A)
n.378+39C>A
c.-57+39C>A (n.-57+39C>A)
 gnomAD v4
2g.209776084C>TCA2662896500UNC80c.298+39C>T (n.298+39C>T)
n.378+39C>T
c.-57+39C>T (n.-57+39C>T)
 gnomAD v4
2g.209776086delCA2082721UNC80c.298+41del (n.298+41del)
n.378+41del
c.-57+41del (n.-57+41del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.209776085C=CA1324702586UNC80c.298+40C= (n.298+40C=)
n.378+40C=
c.-57+40C= (n.-57+40C=)
2g.209776085C>TCA539101148UNC80c.298+40C>T (n.298+40C>T)
n.378+40C>T
c.-57+40C>T (n.-57+40C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.209776089T>CCA2082722UNC80c.298+44T>C (n.298+44T>C)
n.378+44T>C
c.-57+44T>C (n.-57+44T>C)
 dbSNP ExAC gnomAD v2
2g.209776089T=CA1324702587UNC80c.298+44T= (n.298+44T=)
n.378+44T=
c.-57+44T= (n.-57+44T=)
2g.209776090G>ACA2662896501UNC80c.298+45G>A (n.298+45G>A)
n.378+45G>A
c.-57+45G>A (n.-57+45G>A)
 gnomAD v4
2g.209776090G=CA1324702588UNC80c.298+45G= (n.298+45G=)
n.378+45G=
c.-57+45G= (n.-57+45G=)
2g.209776090G>TCA539101150UNC80c.298+45G>T (n.298+45G>T)
n.378+45G>T
c.-57+45G>T (n.-57+45G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.209776091T>CCA539101152UNC80c.298+46T>C (n.298+46T>C)
n.378+46T>C
c.-57+46T>C (n.-57+46T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.209776091T=CA1324702589UNC80c.298+46T= (n.298+46T=)
n.378+46T=
c.-57+46T= (n.-57+46T=)
2g.209776092G>ACA64645273UNC80c.298+47G>A (n.298+47G>A)
n.378+47G>A
c.-57+47G>A (n.-57+47G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.209776092G=CA1324702590UNC80c.298+47G= (n.298+47G=)
n.378+47G=
c.-57+47G= (n.-57+47G=)
2g.209776092G>TCA539101154UNC80c.298+47G>T (n.298+47G>T)
n.378+47G>T
c.-57+47G>T (n.-57+47G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.209776095C>ACA2662896502UNC80c.298+50C>A (n.298+50C>A)
n.378+50C>A
c.-57+50C>A (n.-57+50C>A)
 gnomAD v4
2g.209776095C=CA1324702591UNC80c.298+50C= (n.298+50C=)
n.378+50C=
c.-57+50C= (n.-57+50C=)
2g.209776095C>GCA539101156UNC80c.298+50C>G (n.298+50C>G)
n.378+50C>G
c.-57+50C>G (n.-57+50C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.209776098C=CA1324702592UNC80c.298+53C= (n.298+53C=)
n.378+53C=
c.-57+53C= (n.-57+53C=)
2g.209776098C>TCA64645278UNC80c.298+53C>T (n.298+53C>T)
n.378+53C>T
c.-57+53C>T (n.-57+53C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.209776100C=CA1324702593UNC80c.298+55C= (n.298+55C=)
n.378+55C=
c.-57+55C= (n.-57+55C=)
2g.209776100C>TCA1324702594UNC80c.298+55C>T (n.298+55C>T)
n.378+55C>T
c.-57+55C>T (n.-57+55C>T)
 dbSNP gnomAD v4
2g.209776102C=CA1324702595UNC80c.298+57C= (n.298+57C=)
n.378+57C=
c.-57+57C= (n.-57+57C=)
2g.209776102C>TCA539101158UNC80c.298+57C>T (n.298+57C>T)
n.378+57C>T
c.-57+57C>T (n.-57+57C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.209776103A>TCA2662896503UNC80c.298+58A>T (n.298+58A>T)
n.378+58A>T
c.-57+58A>T (n.-57+58A>T)
 gnomAD v4
2g.209776104T>ACA2577228190UNC80c.298+59T>A (n.298+59T>A)
n.378+59T>A
c.-57+59T>A (n.-57+59T>A)
2g.209776105C>ACA2577228191UNC80c.298+60C>A (n.298+60C>A)
n.378+60C>A
c.-57+60C>A (n.-57+60C>A)
2g.209776105C>TCA2662896504UNC80c.298+60C>T (n.298+60C>T)
n.378+60C>T
c.-57+60C>T (n.-57+60C>T)
 gnomAD v4
2g.209776106A=CA1324702596UNC80c.298+61A= (n.298+61A=)
n.378+61A=
c.-57+61A= (n.-57+61A=)
2g.209776106A>CCA1041851301UNC80c.298+61A>C (n.298+61A>C)
n.378+61A>C
c.-57+61A>C (n.-57+61A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.209776106A>GCA64645290UNC80c.298+61A>G (n.298+61A>G)
n.378+61A>G
c.-57+61A>G (n.-57+61A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.209776107T>ACA764096488UNC80c.298+62T>A (n.298+62T>A)
n.378+62T>A
c.-57+62T>A (n.-57+62T>A)
 dbSNP gnomAD v4
2g.209776107T>CCA2577228192UNC80c.298+62T>C (n.298+62T>C)
n.378+62T>C
c.-57+62T>C (n.-57+62T>C)
 gnomAD v4
2g.209776107T=CA1324702597UNC80c.298+62T= (n.298+62T=)
n.378+62T=
c.-57+62T= (n.-57+62T=)
2g.209776108A>GCA2662896505UNC80c.298+63A>G (n.298+63A>G)
n.378+63A>G
c.-57+63A>G (n.-57+63A>G)
 gnomAD v4
2g.209776112A>GCA2662896506UNC80c.298+67A>G (n.298+67A>G)
n.378+67A>G
c.-57+67A>G (n.-57+67A>G)
 gnomAD v4
2g.209776113C>ACA2662896507UNC80c.298+68C>A (n.298+68C>A)
n.378+68C>A
c.-57+68C>A (n.-57+68C>A)
 gnomAD v4
2g.209776113C>TCA2662896508UNC80c.298+68C>T (n.298+68C>T)
n.378+68C>T
c.-57+68C>T (n.-57+68C>T)
 gnomAD v4
2g.209776114C>TCA2662896509UNC80c.298+69C>T (n.298+69C>T)
n.378+69C>T
c.-57+69C>T (n.-57+69C>T)
 gnomAD v4
2g.209776115T>CCA2662896510UNC80c.298+70T>C (n.298+70T>C)
n.378+70T>C
c.-57+70T>C (n.-57+70T>C)
 gnomAD v4
2g.209776115T>GCA2662896511UNC80c.298+70T>G (n.298+70T>G)
n.378+70T>G
c.-57+70T>G (n.-57+70T>G)
 gnomAD v4
2g.209776116G>ACA539101161UNC80c.298+71G>A (n.298+71G>A)
n.378+71G>A
c.-57+71G>A (n.-57+71G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.209776116G>CCA2662896512UNC80c.298+71G>C (n.298+71G>C)
n.378+71G>C
c.-57+71G>C (n.-57+71G>C)
 gnomAD v4
2g.209776116G=CA1324702598UNC80c.298+71G= (n.298+71G=)
n.378+71G=
c.-57+71G= (n.-57+71G=)
2g.209776117T>GCA2662896513UNC80c.298+72T>G (n.298+72T>G)
n.378+72T>G
c.-57+72T>G (n.-57+72T>G)
 gnomAD v4

Number of alleles fetched