Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.20189471_20189473delCA1139663003GJB2c.111_113del (p.Val38del)
ClinVar dbSNP
13g.20189473C>ACA273605GJB2c.109G>T (p.Val37Phe)
ClinVar dbSNP
13g.20189473C=CA2077140354GJB2c.109G= (p.Val37=)
13g.20189473C>GCA387461942GJB2c.109G>C (p.Val37Leu)
13g.20189473C>TCA172210GJB2c.109G>A (p.Val37Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189473dupCA2695217725GJB2c.109dup (p.Val37GlyfsTer11)
13g.20189474G>ACA6904318GJB2c.108C>T (p.Leu36=)
ClinVar dbSNP ExAC gnomAD v4
13g.20189474G>CCA246460895GJB2c.108C>G (p.Leu36=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189474G=CA2077140363GJB2c.108C= (p.Leu36=)
13g.20189474G>TCA483153905GJB2c.108C>A (p.Leu36=)
gnomAD v4
13g.20189475A=CA2077140370GJB2c.107T= (p.Leu36=)
13g.20189475A>CCA387461945GJB2c.107T>G (p.Leu36Arg)
13g.20189475A>GCA172208GJB2c.107T>C (p.Leu36Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189475A>TCA387461947GJB2c.107T>A (p.Leu36His)
13g.20189476G>ACA387461950GJB2c.106C>T (p.Leu36Phe)
COSMIC
13g.20189476G>CCA387461952GJB2c.106C>G (p.Leu36Val)
13g.20189476G>TCA387461953GJB2c.106C>A (p.Leu36Ile)
13g.20189476_20189505dupCA222248GJB2c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle)
ClinVar dbSNP
13g.20189477G>ACA483153910GJB2c.105C>T (p.Ile35=)
13g.20189477G>CCA387461955GJB2c.105C>G (p.Ile35Met)
13g.20189477G>TCA483153911GJB2c.105C>A (p.Ile35=)
13g.20189477_20189483delinsGATCATACA2077140383GJB2c.99_105delinsTATGATC (p.Ile33=)
13g.20189478A=CA2077140387GJB2c.104T= (p.Ile35=)
13g.20189478A>CCA6904320GJB2c.104T>G (p.Ile35Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189478A>GCA387461957GJB2c.104T>C (p.Ile35Thr)
13g.20189478A>TCA387461959GJB2c.104T>A (p.Ile35Asn)
13g.20189480_20189485delCA6904319GJB2c.99_104del (p.Met34_Ile35del)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189479T>ACA387461961GJB2c.103A>T (p.Ile35Phe)
13g.20189479T>CCA387461963GJB2c.103A>G (p.Ile35Val)
13g.20189479T>GCA387461964GJB2c.103A>C (p.Ile35Leu)
13g.20189480C>ACA387461966GJB2c.102G>T (p.Met34Ile)
13g.20189480C>GCA387461968GJB2c.102G>C (p.Met34Ile)
13g.20189480C>TCA387461969GJB2c.102G>A (p.Met34Ile)
13g.20189481A=CA2077140396GJB2c.101T= (p.Met34=)
13g.20189481A>CCA261633GJB2c.101T>G (p.Met34Arg)
ClinVar dbSNP
13g.20189481A>GCA172206GJB2c.101T>C (p.Met34Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189481A>TCA387461971GJB2c.101T>A (p.Met34Lys)
13g.20189482T>ACA6904321GJB2c.100A>T (p.Met34Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189482T>CCA387461975GJB2c.100A>G (p.Met34Val)
13g.20189482T>GCA387461977GJB2c.100A>C (p.Met34Leu)
13g.20189482T=CA2077140404GJB2c.100A= (p.Met34=)
13g.20189482_20189483delinsTACA2077140405GJB2c.99_100delinsTA (p.Ile33=)
13g.20189483A>CCA387461978GJB2c.99T>G (p.Ile33Met)
13g.20189483A>GCA483153918GJB2c.99T>C (p.Ile33=)
13g.20189483A>TCA483153919GJB2c.99T>A (p.Ile33=)
gnomAD v4
13g.20189484delCA608984158GJB2c.99del (p.Met34Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189484A=CA2077140410GJB2c.98T= (p.Ile33=)
13g.20189484A>CCA387461981GJB2c.98T>G (p.Ile33Ser)
13g.20189484A>GCA246460935GJB2c.98T>C (p.Ile33Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.20189484A>TCA387461986GJB2c.98T>A (p.Ile33Asn)

Number of alleles fetched