Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.209776118A>GCA2662896514UNC80c.298+73A>G (n.298+73A>G)
n.378+73A>G
c.-57+73A>G (n.-57+73A>G)
 gnomAD v4
2g.209776119C>ACA2662896515UNC80c.298+74C>A (n.298+74C>A)
n.378+74C>A
c.-57+74C>A (n.-57+74C>A)
 gnomAD v4
2g.209776119C=CA1324702599UNC80c.298+74C= (n.298+74C=)
n.378+74C=
c.-57+74C= (n.-57+74C=)
2g.209776119C>GCA64645296UNC80c.298+74C>G (n.298+74C>G)
n.378+74C>G
c.-57+74C>G (n.-57+74C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.209776119C>TCA2577228193UNC80c.298+74C>T (n.298+74C>T)
n.378+74C>T
c.-57+74C>T (n.-57+74C>T)
 gnomAD v4
2g.209776121G>ACA2662896516UNC80c.298+76G>A (n.298+76G>A)
n.378+76G>A
c.-57+76G>A (n.-57+76G>A)
 gnomAD v4
2g.209776121G>TCA2662896517UNC80c.298+76G>T (n.298+76G>T)
n.378+76G>T
c.-57+76G>T (n.-57+76G>T)
 gnomAD v4
2g.209776123G>ACA2577228194UNC80c.298+78G>A (n.298+78G>A)
n.378+78G>A
c.-57+78G>A (n.-57+78G>A)
2g.209776123G>CCA2662896518UNC80c.298+78G>C (n.298+78G>C)
n.378+78G>C
c.-57+78G>C (n.-57+78G>C)
 gnomAD v4
2g.209776125A>CCA2701605006UNC80c.298+80A>C (n.298+80A>C)
n.378+80A>C
c.-57+80A>C (n.-57+80A>C)
 dbSNP
2g.209776125A>TCA647797391UNC80c.298+80A>T (n.298+80A>T)
n.378+80A>T
c.-57+80A>T (n.-57+80A>T)
 COSMIC
2g.209776126G>TCA2662896519UNC80c.298+81G>T (n.298+81G>T)
n.378+81G>T
c.-57+81G>T (n.-57+81G>T)
 gnomAD v4
2g.209776127T>ACA2577228195UNC80c.298+82T>A (n.298+82T>A)
n.378+82T>A
c.-57+82T>A (n.-57+82T>A)
 gnomAD v4
2g.209776128T>CCA2662896520UNC80c.298+83T>C (n.298+83T>C)
n.378+83T>C
c.-57+83T>C (n.-57+83T>C)
 gnomAD v4
2g.209776129T>ACA2662896522UNC80c.298+84T>A (n.298+84T>A)
n.378+84T>A
c.-57+84T>A (n.-57+84T>A)
 gnomAD v4
2g.209776130_209776131delCA2662896521UNC80c.298+85_298+86del (n.298+85_298+86del)
n.378+85_378+86del
c.-57+85_-57+86del (n.-57+85_-57+86del)
 gnomAD v4
2g.209776132G>ACA2662896523UNC80c.298+87G>A (n.298+87G>A)
n.378+87G>A
c.-57+87G>A (n.-57+87G>A)
 gnomAD v4
2g.209776132G>CCA2539759451UNC80c.298+87G>C (n.298+87G>C)
n.378+87G>C
c.-57+87G>C (n.-57+87G>C)

Number of alleles fetched