Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCA2077140484GJB2c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=)
13g.20189514_20189551delCA261644GJB2c.31_68del (p.Gly11LeufsTer24)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189520_20189530delCA2499221956GJB2c.53_63del (p.Thr18LysfsTer26)
ClinVar dbSNP
13g.20189519_20189531delinsTCCAATGCTGGTGCA2077140504GJB2c.51_63delinsCACCAGCATTGGA (p.Ser17=)
13g.20189520C>ACA387462123GJB2c.62G>T (p.Gly21Val)
13g.20189520C=CA2077140512GJB2c.62G= (p.Gly21=)
13g.20189520C>GCA387462119GJB2c.62G>C (p.Gly21Ala)
13g.20189520C>TCA387462122GJB2c.62G>A (p.Gly21Glu)
dbSNP COSMIC
13g.20189520_20189523delCA2622252307GJB2c.59_62del (p.Ile20LysfsTer14)
gnomAD v4
13g.20189520_20189531delinsTCA10575530GJB2c.51_62delinsA (p.Thr18LysfsTer26)
ClinVar dbSNP
13g.20189521C>ACA387462125GJB2c.61G>T (p.Gly21Ter)
13g.20189521C>GCA387462127GJB2c.61G>C (p.Gly21Arg)
13g.20189521C>TCA387462128GJB2c.61G>A (p.Gly21Arg)
dbSNP
13g.20189522A=CA2077140514GJB2c.60T= (p.Ile20=)
13g.20189522A>CCA6904326GJB2c.60T>G (p.Ile20Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189522A>GCA483154027GJB2c.60T>C (p.Ile20=)
13g.20189522A>TCA483154028GJB2c.60T>A (p.Ile20=)
13g.20189523A=CA2077140519GJB2c.59T= (p.Ile20=)
13g.20189523A>CCA387462131GJB2c.59T>G (p.Ile20Ser)
13g.20189523A>GCA16041595GJB2c.59T>C (p.Ile20Thr)
ClinVar dbSNP gnomAD v4
13g.20189523A>TCA387462132GJB2c.59T>A (p.Ile20Asn)
13g.20189524T>ACA387462133GJB2c.58A>T (p.Ile20Phe)
13g.20189524T>CCA387462135GJB2c.58A>G (p.Ile20Val)
13g.20189524T>GCA387462136GJB2c.58A>C (p.Ile20Leu)
13g.20189525G>ACA483154029GJB2c.57C>T (p.Ser19=)
dbSNP
13g.20189525G>CCA387462138GJB2c.57C>G (p.Ser19Arg)
13g.20189525G=CA2077140521GJB2c.57C= (p.Ser19=)
13g.20189525G>TCA387462140GJB2c.57C>A (p.Ser19Arg)
13g.20189526_20189532delCA2622252308GJB2c.51_57del (p.Thr18LeufsTer15)
gnomAD v4
13g.20189526C>ACA6904327GJB2c.56G>T (p.Ser19Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189526C=CA2077140524GJB2c.56G= (p.Ser19=)
13g.20189526C>GCA342005GJB2c.56G>C (p.Ser19Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.20189526C>TCA387462144GJB2c.56G>A (p.Ser19Asn)
13g.20189527T>ACA387462145GJB2c.55A>T (p.Ser19Cys)
13g.20189527T>CCA387462146GJB2c.55A>G (p.Ser19Gly)
13g.20189527T>GCA387462147GJB2c.55A>C (p.Ser19Arg)
13g.20189528G>ACA483154032GJB2c.54C>T (p.Thr18=)
13g.20189528G>CCA483154031GJB2c.54C>G (p.Thr18=)
gnomAD v4
13g.20189528G>TCA483154030GJB2c.54C>A (p.Thr18=)
13g.20189529G>ACA387462151GJB2c.53C>T (p.Thr18Ile)
13g.20189529G>CCA387462150GJB2c.53C>G (p.Thr18Ser)
ClinVar dbSNP
13g.20189529G=CA2077140530GJB2c.53C= (p.Thr18=)
13g.20189529G>TCA387462149GJB2c.53C>A (p.Thr18Asn)
13g.20189530T>ACA387462153GJB2c.52A>T (p.Thr18Ser)
13g.20189530T>CCA387462155GJB2c.52A>G (p.Thr18Ala)
13g.20189530T>GCA387462157GJB2c.52A>C (p.Thr18Pro)
13g.20189531G>ACA483154033GJB2c.51C>T (p.Ser17=)
ClinVar dbSNP
13g.20189531G>CCA483154034GJB2c.51C>G (p.Ser17=)
13g.20189531G=CA2077140533GJB2c.51C= (p.Ser17=)
13g.20189531G>TCA483154035GJB2c.51C>A (p.Ser17=)
ClinVar dbSNP

Number of alleles fetched