Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.52771486A=CA1910259324MBL2c.150T= (p.Asp50=)
10g.52771486A>CCA376540027MBL2c.150T>G (p.Asp50Glu)
10g.52771486A>GCA5504425MBL2c.150T>C (p.Asp50=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.52771486A>TCA376540028MBL2c.150T>A (p.Asp50Glu)
10g.52771487T>ACA376540029MBL2c.149A>T (p.Asp50Val)
gnomAD v4
10g.52771487T>CCA376540030MBL2c.149A>G (p.Asp50Gly)
10g.52771487T>GCA376540031MBL2c.149A>C (p.Asp50Ala)
10g.52771488C>ACA376540034MBL2c.148G>T (p.Asp50Tyr)
10g.52771488C>GCA376540033MBL2c.148G>C (p.Asp50His)
10g.52771488C>TCA376540032MBL2c.148G>A (p.Asp50Asn)
10g.52771489T>ACA376540035MBL2c.147A>T (p.Lys49Asn)
10g.52771489T>CCA469520604MBL2c.147A>G (p.Lys49=)
gnomAD v4
10g.52771489T>GCA376540036MBL2c.147A>C (p.Lys49Asn)
10g.52771490T>ACA376540037MBL2c.146A>T (p.Lys49Ile)
10g.52771490T>CCA376540038MBL2c.146A>G (p.Lys49Arg)
10g.52771490T>GCA376540039MBL2c.146A>C (p.Lys49Thr)
10g.52771491T>ACA376540042MBL2c.145A>T (p.Lys49Ter)
10g.52771491T>CCA376540041MBL2c.145A>G (p.Lys49Glu)
10g.52771491T>GCA376540040MBL2c.145A>C (p.Lys49Gln)
10g.52771491_52771492insACCCGGTTCGCCCTGCGGCA2527131312MBL2c.144_145insCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGly)
10g.52771491_52771492insACCCGGTTCGCCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGGCCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCGCCCTGCGGCA2564684123MBL2c.144_145insCCGCAGGGCGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGCCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly)
10g.52771491_52771492insACCCGGTTCACCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGACCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCACCCTGCGGCA2537735057MBL2c.144_145insCCGCAGGGTGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGTCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGTGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly)
10g.52771492G>ACA469520605MBL2c.144C>T (p.Gly48=)
dbSNP gnomAD v2 gnomAD v4
10g.52771492G>CCA469520606MBL2c.144C>G (p.Gly48=)
10g.52771492G=CA1910259325MBL2c.144C= (p.Gly48=)
10g.52771492G>TCA469520607MBL2c.144C>A (p.Gly48=)
COSMIC
10g.52771492_52771493delinsGCCA1910259326MBL2c.143_144delinsGC (p.Gly48=)
10g.52771493C>ACA376540043MBL2c.143G>T (p.Gly48Val)
10g.52771493C=CA1910259327MBL2c.143G= (p.Gly48=)
10g.52771493C>GCA376540044MBL2c.143G>C (p.Gly48Ala)
10g.52771493C>TCA376540045MBL2c.143G>A (p.Gly48Asp)
dbSNP
10g.52771494delCA666360510MBL2c.143del (p.Gly48AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
10g.52771494C>ACA376540046MBL2c.142G>T (p.Gly48Cys)
10g.52771494C>GCA376540047MBL2c.142G>C (p.Gly48Arg)
10g.52771494C>TCA376540048MBL2c.142G>A (p.Gly48Ser)
10g.52771495delCA2520754033MBL2c.141del (p.Gly48AlafsTer?)
10g.52771495T>ACA469520608MBL2c.141A>T (p.Pro47=)
10g.52771495T>CCA469520609MBL2c.141A>G (p.Pro47=)
10g.52771495T>GCA469520610MBL2c.141A>C (p.Pro47=)
10g.52771496G>ACA376540049MBL2c.140C>T (p.Pro47Leu)
10g.52771496G>CCA376540051MBL2c.140C>G (p.Pro47Arg)
dbSNP gnomAD v3 gnomAD v4
10g.52771496G=CA1910259328MBL2c.140C= (p.Pro47=)
10g.52771496G>TCA376540050MBL2c.140C>A (p.Pro47Gln)
dbSNP gnomAD v4
10g.52771497G>ACA376540052MBL2c.139C>T (p.Pro47Ser)
10g.52771497G>CCA376540053MBL2c.139C>G (p.Pro47Ala)
10g.52771497G>TCA376540054MBL2c.139C>A (p.Pro47Thr)
COSMIC
10g.52771498G>ACA5504426MBL2c.138C>T (p.Phe46=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.52771498G>CCA376540055MBL2c.138C>G (p.Phe46Leu)
10g.52771498G=CA1910259329MBL2c.138C= (p.Phe46=)
10g.52771498G>TCA376540056MBL2c.138C>A (p.Phe46Leu)

Number of alleles fetched