Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.36954762_36954824dupCA1087927663PI16c.2_64dup (p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeuLeuLeuProLeuLeuLeuLeuLeuValAlaThr)
dbSNP gnomAD v3 gnomAD v4
6g.36954808_36954813dupCA3781907PI16c.48_53dup (p.Leu18_Val19insLeuLeu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36954808A=CA1621569599PI16c.48A= (p.Leu16=)
6g.36954808A>CCA449982064PI16c.48A>C (p.Leu16=)
6g.36954808A>GCA449982065PI16c.48A>G (p.Leu16=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.36954808A>TCA449982066PI16c.48A>T (p.Leu16=)
6g.36954809C>ACA363849332PI16c.49C>A (p.Leu17Met)
6g.36954809C=CA1621569600PI16c.49C= (p.Leu17=)
6g.36954809C>GCA363849333PI16c.49C>G (p.Leu17Val)
6g.36954809C>TCA449982067PI16c.49C>T (p.Leu17=)
dbSNP gnomAD v3 gnomAD v4
6g.36954810T>ACA363849334PI16c.50T>A (p.Leu17Gln)
6g.36954810T>CCA363849335PI16c.50T>C (p.Leu17Pro)
6g.36954810T>GCA363849336PI16c.50T>G (p.Leu17Arg)
6g.36954811G>ACA449982068PI16c.51G>A (p.Leu17=)
6g.36954811G>CCA449982069PI16c.51G>C (p.Leu17=)
6g.36954811G>TCA449982070PI16c.51G>T (p.Leu17=)
6g.36954812C>ACA363849337PI16c.52C>A (p.Leu18Met)
6g.36954812C>GCA363849338PI16c.52C>G (p.Leu18Val)
6g.36954812C>TCA449982071PI16c.52C>T (p.Leu18=)
gnomAD v4
6g.36954813T>ACA363849339PI16c.53T>A (p.Leu18Gln)
6g.36954813T>CCA363849340PI16c.53T>C (p.Leu18Pro)
COSMIC
6g.36954813T>GCA363849341PI16c.53T>G (p.Leu18Arg)
6g.36954814G>ACA449982075PI16c.54G>A (p.Leu18=)
6g.36954814G>CCA449982072PI16c.54G>C (p.Leu18=)
6g.36954814G>TCA449982073PI16c.54G>T (p.Leu18=)
6g.36954815G>ACA363849342PI16c.55G>A (p.Val19Met)
dbSNP gnomAD v2 gnomAD v4
6g.36954815G>CCA363849344PI16c.55G>C (p.Val19Leu)
6g.36954815G=CA1621569601PI16c.55G= (p.Val19=)
6g.36954815G>TCA363849343PI16c.55G>T (p.Val19Leu)
6g.36954816T>ACA363849345PI16c.56T>A (p.Val19Glu)
6g.36954816T>CCA3781909PI16c.56T>C (p.Val19Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36954816T>GCA363849346PI16c.56T>G (p.Val19Gly)
6g.36954816T=CA1621569602PI16c.56T= (p.Val19=)
6g.36954817G>ACA449982076PI16c.57G>A (p.Val19=)
gnomAD v4
6g.36954817G>CCA449982077PI16c.57G>C (p.Val19=)
6g.36954817G=CA1621569603PI16c.57G= (p.Val19=)
6g.36954817G>TCA449982078PI16c.57G>T (p.Val19=)
6g.36954818G>ACA363849347PI16c.58G>A (p.Ala20Thr)
gnomAD v4
6g.36954818G>CCA363849348PI16c.58G>C (p.Ala20Pro)
6g.36954818G>TCA363849349PI16c.58G>T (p.Ala20Ser)
6g.36954818_36954820dupCA566704775PI16c.58_60dup (p.Ala20_Thr21insAla)
dbSNP gnomAD v2 gnomAD v4
6g.36954819C>ACA363849350PI16c.59C>A (p.Ala20Asp)
6g.36954819C=CA1621569604PI16c.59C= (p.Ala20=)
6g.36954819C>GCA363849351PI16c.59C>G (p.Ala20Gly)
6g.36954819C>TCA3781910PI16c.59C>T (p.Ala20Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36954820C>ACA449982081PI16c.60C>A (p.Ala20=)
6g.36954820C>GCA449982079PI16c.60C>G (p.Ala20=)
6g.36954820C>TCA449982080PI16c.60C>T (p.Ala20=)
gnomAD v4
6g.36954821A>CCA363849352PI16c.61A>C (p.Thr21Pro)
6g.36954821A>GCA363849353PI16c.61A>G (p.Thr21Ala)

Number of alleles fetched