Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.20189476_20189505dupCA222248GJB2c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle)
ClinVar dbSNP
13g.20189500_20189503delinsTCTCA2499221955GJB2c.79_82delinsAGA (p.Val27ArgfsTer8)
ClinVar dbSNP
13g.20189503C>ACA387462051GJB2c.79G>T (p.Val27Phe)
13g.20189503C=CA2077140448GJB2c.79G= (p.Val27=)
13g.20189503C>GCA387462053GJB2c.79G>C (p.Val27Leu)
13g.20189503C>TCA134997GJB2c.79G>A (p.Val27Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.20189504G>ACA6904324GJB2c.78C>T (p.Thr26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189504G>CCA483153940GJB2c.78C>G (p.Thr26=)
13g.20189504G=CA2077140457GJB2c.78C= (p.Thr26=)
13g.20189504G>TCA483153941GJB2c.78C>A (p.Thr26=)
13g.20189505G>ACA387462056GJB2c.77C>T (p.Thr26Ile)
dbSNP gnomAD v3 gnomAD v4
13g.20189505G>CCA387462055GJB2c.77C>G (p.Thr26Ser)
13g.20189505G=CA2077140461GJB2c.77C= (p.Thr26=)
13g.20189505G>TCA387462057GJB2c.77C>A (p.Thr26Asn)
13g.20189506delCA2573149179GJB2c.76del (p.Thr26ProfsTer9)
ClinVar dbSNP
13g.20189506T>ACA387462059GJB2c.76A>T (p.Thr26Ser)
13g.20189506T>CCA387462061GJB2c.76A>G (p.Thr26Ala)
dbSNP gnomAD v4
13g.20189506T>GCA387462063GJB2c.76A>C (p.Thr26Pro)
13g.20189507G>ACA483154018GJB2c.75C>T (p.Leu25=)
13g.20189507G>CCA483154019GJB2c.75C>G (p.Leu25=)
13g.20189507G>TCA483154020GJB2c.75C>A (p.Leu25=)
13g.20189508A>CCA387462065GJB2c.74T>G (p.Leu25Arg)
13g.20189508A>GCA387462066GJB2c.74T>C (p.Leu25Pro)
13g.20189508A>TCA387462068GJB2c.74T>A (p.Leu25His)
13g.20189509G>ACA387462069GJB2c.73C>T (p.Leu25Phe)
ClinVar dbSNP
13g.20189509G>CCA387462070GJB2c.73C>G (p.Leu25Val)
13g.20189509G=CA2077140465GJB2c.73C= (p.Leu25=)
13g.20189509G>TCA387462072GJB2c.73C>A (p.Leu25Ile)
13g.20189510C>ACA387462073GJB2c.72G>T (p.Trp24Cys)
13g.20189510C=CA2077140470GJB2c.72G= (p.Trp24=)
13g.20189510C>GCA6904325GJB2c.72G>C (p.Trp24Cys)
dbSNP ExAC
13g.20189510C>TCA387462076GJB2c.72G>A (p.Trp24Ter)
ClinVar dbSNP
13g.20189511C>ACA387462081GJB2c.71G>T (p.Trp24Leu)
13g.20189511C=CA2077140478GJB2c.71G= (p.Trp24=)
13g.20189511C>GCA387462079GJB2c.71G>C (p.Trp24Ser)
gnomAD v4
13g.20189511C>TCA172240GJB2c.71G>A (p.Trp24Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189512A>CCA387462083GJB2c.70T>G (p.Trp24Gly)
13g.20189512A>GCA387462085GJB2c.70T>C (p.Trp24Arg)
13g.20189512A>TCA387462087GJB2c.70T>A (p.Trp24Arg)
13g.20189513G>ACA483154022GJB2c.69C>T (p.Ile23=)
ClinVar
13g.20189513G>CCA387462089GJB2c.69C>G (p.Ile23Met)
dbSNP gnomAD v2 gnomAD v4
13g.20189513G=CA2077140486GJB2c.69C= (p.Ile23=)
13g.20189513G>TCA483154021GJB2c.69C>A (p.Ile23=)
13g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCCCA2077140484GJB2c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=)
13g.20189514A>CCA387462091GJB2c.68T>G (p.Ile23Ser)
13g.20189514A>GCA387462092GJB2c.68T>C (p.Ile23Thr)
13g.20189514A>TCA387462093GJB2c.68T>A (p.Ile23Asn)
13g.20189514_20189551delCA261644GJB2c.31_68del (p.Gly11LeufsTer24)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189515T>ACA387462096GJB2c.67A>T (p.Ile23Phe)
13g.20189515T>CCA387462098GJB2c.67A>G (p.Ile23Val)
13g.20189515T>GCA387462099GJB2c.67A>C (p.Ile23Leu)
13g.20189516C>ACA10584002GJB2c.66G>T (p.Lys22Asn)
ClinVar dbSNP
13g.20189516C=CA2077140498GJB2c.66G= (p.Lys22=)
13g.20189516C>GCA387462101GJB2c.66G>C (p.Lys22Asn)
13g.20189516C>TCA483154023GJB2c.66G>A (p.Lys22=)
ClinVar dbSNP gnomAD v4
13g.20189517T>ACA387462104GJB2c.65A>T (p.Lys22Met)
13g.20189517T>CCA387462105GJB2c.65A>G (p.Lys22Arg)
13g.20189517T>GCA387462107GJB2c.65A>C (p.Lys22Thr)
13g.20189519delCA2575364825GJB2c.65del (p.Lys22ArgfsTer13)
13g.20189518T>ACA387462113GJB2c.64A>T (p.Lys22Ter)
13g.20189518T>CCA387462115GJB2c.64A>G (p.Lys22Glu)
13g.20189518T>GCA387462117GJB2c.64A>C (p.Lys22Gln)
13g.20189519T>ACA483154024GJB2c.63A>T (p.Gly21=)
13g.20189519T>CCA483154026GJB2c.63A>G (p.Gly21=)
13g.20189519T>GCA483154025GJB2c.63A>C (p.Gly21=)
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.20189525_20189526delinsAACA2825002101GJB2c.56_57delinsTT (p.Ser19Ile)
ClinVar
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
13g.20189531_20189533delinsGGACA2077140535GJB2c.49_51delinsTCC (p.Ser17=)
13g.20189532_20189534delCA912980100GJB2c.49_51del (p.Ser17del)
13g.20189532G>ACA127029GJB2c.50C>T (p.Ser17Phe)
ClinVar dbSNP
13g.20189532G>CCA185218GJB2c.50C>G (p.Ser17Cys)
ClinVar dbSNP
13g.20189532G=CA2077140543GJB2c.50C= (p.Ser17=)
13g.20189532G>TCA387462161GJB2c.50C>A (p.Ser17Tyr)
13g.20189533_20189534delCA658823500GJB2c.49_50del (p.Ser17HisfsTer30)
ClinVar dbSNP
13g.20189533_20189536delCA2622252310GJB2c.47_50del (p.His16ProfsTer18)
gnomAD v4
13g.20189533A>CCA387462167GJB2c.49T>G (p.Ser17Ala)
13g.20189533A>GCA387462163GJB2c.49T>C (p.Ser17Pro)
13g.20189533A>TCA387462165GJB2c.49T>A (p.Ser17Thr)
13g.20189534G>ACA483154036GJB2c.48C>T (p.His16=)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.20189534G>CCA387462169GJB2c.48C>G (p.His16Gln)
13g.20189534G=CA2077140549GJB2c.48C= (p.His16=)
13g.20189534G>TCA387462170GJB2c.48C>A (p.His16Gln)
13g.20189535T>ACA387462172GJB2c.47A>T (p.His16Leu)
13g.20189535T>CCA387462174GJB2c.47A>G (p.His16Arg)
13g.20189535T>GCA387462175GJB2c.47A>C (p.His16Pro)
gnomAD v4
13g.20189536G>ACA6904328GJB2c.46C>T (p.His16Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189536G>CCA387462176GJB2c.46C>G (p.His16Asp)
13g.20189536G=CA2077140554GJB2c.46C= (p.His16=)
13g.20189536G>TCA387462178GJB2c.46C>A (p.His16Asn)
COSMIC
13g.20189536_20189550delinsGTTTGTTCACACCCCCA2077140555GJB2c.32_46delinsGGGGTGTGAACAAAC (p.Gly11=)
13g.20189537T>ACA387462181GJB2c.45A>T (p.Lys15Asn)
13g.20189537T>CCA483154037GJB2c.45A>G (p.Lys15=)
dbSNP
13g.20189537T>GCA387462182GJB2c.45A>C (p.Lys15Asn)
13g.20189537T=CA2077140561GJB2c.45A= (p.Lys15=)
13g.20189537_20189550delCA608984146GJB2c.32_45del (p.Gly11AlafsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189538T>ACA387462185GJB2c.44A>T (p.Lys15Ile)
13g.20189538T>CCA387462187GJB2c.44A>G (p.Lys15Arg)
13g.20189538T>GCA261649GJB2c.44A>C (p.Lys15Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189538T=CA2077109877GJB2c.44A= (p.Lys15=)
13g.20189538_20189551delCA2695217727GJB2c.31_44del (p.Gly11ThrfsTer?)
13g.20189539T>ACA387462189GJB2c.43A>T (p.Lys15Ter)
13g.20189539T>CCA387462191GJB2c.43A>G (p.Lys15Glu)
13g.20189539T>GCA387462192GJB2c.43A>C (p.Lys15Gln)
13g.20189540G>ACA483154038GJB2c.42C>T (p.Asn14=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189540G>CCA387462194GJB2c.42C>G (p.Asn14Lys)
13g.20189540G=CA2077109907GJB2c.42C= (p.Asn14=)
13g.20189540G>TCA387462196GJB2c.42C>A (p.Asn14Lys)
13g.20189541T>ACA387462198GJB2c.41A>T (p.Asn14Ile)
13g.20189541T>CCA387462199GJB2c.41A>G (p.Asn14Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.20189541T>GCA387462201GJB2c.41A>C (p.Asn14Thr)
13g.20189542dupCA696363988GJB2c.41dup (p.Asn14LysfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.20189542T>ACA387462203GJB2c.40A>T (p.Asn14Tyr)
13g.20189542T>CCA387462206GJB2c.40A>G (p.Asn14Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.20189542T>GCA387462205GJB2c.40A>C (p.Asn14His)
13g.20189542T=CA2077109926GJB2c.40A= (p.Asn14=)
13g.20189543C>ACA483154039GJB2c.39G>T (p.Val13=)
13g.20189543C=CA2077109935GJB2c.39G= (p.Val13=)
13g.20189543C>GCA483154040GJB2c.39G>C (p.Val13=)
13g.20189543C>TCA483154041GJB2c.39G>A (p.Val13=)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.20189544A=CA2077109938GJB2c.38T= (p.Val13=)
13g.20189544A>CCA387462207GJB2c.38T>G (p.Val13Gly)
ClinVar dbSNP
13g.20189544A>GCA387462209GJB2c.38T>C (p.Val13Ala)
13g.20189544A>TCA387462211GJB2c.38T>A (p.Val13Glu)
13g.20189544_20189545delinsACCA2077109941GJB2c.37_38delinsGT (p.Val13=)
13g.20189545delCA919221233GJB2c.37del (p.Val13Ter)
dbSNP
13g.20189545C>ACA387462213GJB2c.37G>T (p.Val13Leu)
13g.20189545C=CA2077109952GJB2c.37G= (p.Val13=)
13g.20189545C>GCA387462214GJB2c.37G>C (p.Val13Leu)
13g.20189545C>TCA6904329GJB2c.37G>A (p.Val13Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189546A>CCA483154042GJB2c.36T>G (p.Gly12=)
ClinVar dbSNP gnomAD v4
13g.20189546A>GCA483154043GJB2c.36T>C (p.Gly12=)
gnomAD v4
13g.20189546A>TCA483154044GJB2c.36T>A (p.Gly12=)
13g.20189546dupCA2695217728GJB2c.36dup (p.Val13CysfsTer?)
13g.20189546_20189547delinsACCA2077109957GJB2c.35_36delinsGT (p.Gly12=)
13g.20189547C>ACA172228GJB2c.35G>T (p.Gly12Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189547C=CA2018046961GJB2c.35G= (p.Gly12=)
13g.20189547C>GCA387462219GJB2c.35G>C (p.Gly12Ala)
13g.20189547C>TCA6904330GJB2c.35G>A (p.Gly12Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189552dupCA222247GJB2c.35dup (p.Val13CysfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.20189552delCA127023GJB2c.35del (p.Gly12ValfsTer2)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189548C>ACA172224GJB2c.34G>T (p.Gly12Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189548C=CA2077109991GJB2c.34G= (p.Gly12=)
13g.20189548C>GCA127028GJB2c.34G>C (p.Gly12Arg)
ClinVar dbSNP
13g.20189548C>TCA387462222GJB2c.34G>A (p.Gly12Ser)
13g.20189549C>ACA6904331GJB2c.33G>T (p.Gly11=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189549C=CA2077110002GJB2c.33G= (p.Gly11=)
13g.20189549C>GCA483154045GJB2c.33G>C (p.Gly11=)
13g.20189549C>TCA483154046GJB2c.33G>A (p.Gly11=)
13g.20189550C>ACA387462224GJB2c.32G>T (p.Gly11Val)
13g.20189550C>GCA387462225GJB2c.32G>C (p.Gly11Ala)
13g.20189550C>TCA387462226GJB2c.32G>A (p.Gly11Glu)
13g.20189551C>ACA387462228GJB2c.31G>T (p.Gly11Trp)
13g.20189551C>GCA387462229GJB2c.31G>C (p.Gly11Arg)
13g.20189551C>TCA387462231GJB2c.31G>A (p.Gly11Arg)
COSMIC
13g.20189552C>ACA483154047GJB2c.30G>T (p.Leu10=)
13g.20189552C=CA2077110008GJB2c.30G= (p.Leu10=)
13g.20189552C>GCA483154048GJB2c.30G>C (p.Leu10=)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.20189552C>TCA483154049GJB2c.30G>A (p.Leu10=)
dbSNP
13g.20189553delCA645587649GJB2c.29del (p.Leu10ArgfsTer4)
COSMIC
13g.20189553A=CA2077110012GJB2c.29T= (p.Leu10=)
13g.20189553A>CCA387462232GJB2c.29T>G (p.Leu10Arg)
13g.20189553A>GCA387462233GJB2c.29T>C (p.Leu10Pro)
ClinVar dbSNP
13g.20189553A>TCA387462234GJB2c.29T>A (p.Leu10Gln)
13g.20189553_20189554delinsAGCA2077110011GJB2c.28_29delinsCT (p.Leu10=)
13g.20189553_20189554delinsCACA1139532488GJB2c.28_29delinsTG (p.Leu10Trp)
13g.20189554G>ACA483154050GJB2c.28C>T (p.Leu10=)
13g.20189554G>CCA387462235GJB2c.28C>G (p.Leu10Val)
13g.20189554G>TCA387462236GJB2c.28C>A (p.Leu10Met)
COSMIC
13g.20189555delCA608984147GJB2c.28del (p.Leu10TrpfsTer4)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189555G>ACA483154051GJB2c.27C>T (p.Ile9=)
13g.20189555G>CCA387462238GJB2c.27C>G (p.Ile9Met)
13g.20189555G=CA2077110015GJB2c.27C= (p.Ile9=)
13g.20189555G>TCA483154052GJB2c.27C>A (p.Ile9=)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.20189556A>CCA387462245GJB2c.26T>G (p.Ile9Ser)
13g.20189556A>GCA387462241GJB2c.26T>C (p.Ile9Thr)
gnomAD v4
13g.20189556A>TCA387462247GJB2c.26T>A (p.Ile9Asn)
gnomAD v4
13g.20189557T>ACA387462249GJB2c.25A>T (p.Ile9Phe)
13g.20189557T>CCA387462251GJB2c.25A>G (p.Ile9Val)
gnomAD v4
13g.20189557T>GCA387462250GJB2c.25A>C (p.Ile9Leu)
13g.20189558C>ACA483154053GJB2c.24G>T (p.Thr8=)
gnomAD v4
13g.20189558C=CA2077110018GJB2c.24G= (p.Thr8=)
13g.20189558C>GCA483154054GJB2c.24G>C (p.Thr8=)
ClinVar dbSNP gnomAD v4
13g.20189558C>TCA274828GJB2c.24G>A (p.Thr8=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.20189558_20189559insTCA2695217729GJB2c.23_24insA (p.Ile9AspfsTer?)
13g.20189559G>ACA6904332GJB2c.23C>T (p.Thr8Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.20189559G>CCA387462252GJB2c.23C>G (p.Thr8Arg)
13g.20189559G=CA2077110028GJB2c.23C= (p.Thr8=)
13g.20189559G>TCA387462253GJB2c.23C>A (p.Thr8Lys)
13g.20189560T>ACA387462254GJB2c.22A>T (p.Thr8Ser)
13g.20189560T>CCA387462255GJB2c.22A>G (p.Thr8Ala)
13g.20189560T>GCA387462256GJB2c.22A>C (p.Thr8Pro)
13g.20189561C>ACA387462257GJB2c.21G>T (p.Gln7His)
13g.20189561C=CA2077110035GJB2c.21G= (p.Gln7=)
13g.20189561C>GCA387462258GJB2c.21G>C (p.Gln7His)
13g.20189561C>TCA182152GJB2c.21G>A (p.Gln7=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189562T>ACA387462259GJB2c.20A>T (p.Gln7Leu)
13g.20189562T>CCA387462260GJB2c.20A>G (p.Gln7Arg)
13g.20189562T>GCA387462261GJB2c.20A>C (p.Gln7Pro)
gnomAD v4
13g.20189563G>ACA261641GJB2c.19C>T (p.Gln7Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.20189563G>CCA387462262GJB2c.19C>G (p.Gln7Glu)
13g.20189563G=CA2077110044GJB2c.19C= (p.Gln7=)
13g.20189563G>TCA387462263GJB2c.19C>A (p.Gln7Lys)
13g.20189564C>ACA483154055GJB2c.18G>T (p.Leu6=)
gnomAD v4
13g.20189564C>GCA483154057GJB2c.18G>C (p.Leu6=)
13g.20189564C>TCA483154056GJB2c.18G>A (p.Leu6=)
13g.20189565A>CCA387462264GJB2c.17T>G (p.Leu6Arg)
13g.20189565A>GCA387462265GJB2c.17T>C (p.Leu6Pro)
13g.20189565A>TCA387462266GJB2c.17T>A (p.Leu6Gln)
13g.20189566G>ACA483154058GJB2c.16C>T (p.Leu6=)
13g.20189566G>CCA387462267GJB2c.16C>G (p.Leu6Val)
13g.20189566G>TCA387462268GJB2c.16C>A (p.Leu6Met)
13g.20189567C>ACA483154059GJB2c.15G>T (p.Thr5=)
13g.20189567C=CA2077110051GJB2c.15G= (p.Thr5=)
13g.20189567C>GCA483154060GJB2c.15G>C (p.Thr5=)
ClinVar dbSNP gnomAD v4
13g.20189567C>TCA6904333GJB2c.15G>A (p.Thr5=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189568G>ACA6904334GJB2c.14C>T (p.Thr5Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189568G>CCA387462269GJB2c.14C>G (p.Thr5Arg)
13g.20189568G=CA2077110061GJB2c.14C= (p.Thr5=)
13g.20189568G>TCA387462270GJB2c.14C>A (p.Thr5Lys)
13g.20189569T>ACA387462271GJB2c.13A>T (p.Thr5Ser)
13g.20189569T>CCA387462272GJB2c.13A>G (p.Thr5Ala)
13g.20189569T>GCA387462273GJB2c.13A>C (p.Thr5Pro)
13g.20189570G>ACA483154061GJB2c.12C>T (p.Gly4=)
COSMIC
13g.20189570G>CCA483154062GJB2c.12C>G (p.Gly4=)
13g.20189570G>TCA483154063GJB2c.12C>A (p.Gly4=)
13g.20189570_20189571delinsGCCA2077110069GJB2c.11_12delinsGC (p.Gly4=)
13g.20189571C>ACA6904335GJB2c.11G>T (p.Gly4Val)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189571C=CA2077110082GJB2c.11G= (p.Gly4=)
13g.20189571C>GCA387462274GJB2c.11G>C (p.Gly4Ala)
13g.20189571C>TCA134947GJB2c.11G>A (p.Gly4Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189574delCA483154064GJB2c.11del (p.Gly4AlafsTer10)
ClinVar dbSNP gnomAD v4
13g.20189572C>ACA387462275GJB2c.10G>T (p.Gly4Cys)
13g.20189572C=CA2077110089GJB2c.10G= (p.Gly4=)
13g.20189572C>GCA387462276GJB2c.10G>C (p.Gly4Arg)
13g.20189572C>TCA387462277GJB2c.10G>A (p.Gly4Ser)
dbSNP gnomAD v3 gnomAD v4
13g.20189573C>ACA387462278GJB2c.9G>T (p.Trp3Cys)
ClinVar dbSNP
13g.20189573C=CA2077110092GJB2c.9G= (p.Trp3=)
13g.20189573C>GCA387462279GJB2c.9G>C (p.Trp3Cys)
13g.20189573C>TCA261655GJB2c.9G>A (p.Trp3Ter)
ClinVar dbSNP
13g.20189574C>ACA387462280GJB2c.8G>T (p.Trp3Leu)
13g.20189574C>GCA387462281GJB2c.8G>C (p.Trp3Ser)
ClinVar
13g.20189574C>TCA387462282GJB2c.8G>A (p.Trp3Ter)
13g.20189575A>CCA387462283GJB2c.7T>G (p.Trp3Gly)
13g.20189575A>GCA387462284GJB2c.7T>C (p.Trp3Arg)
13g.20189575A>TCA387462285GJB2c.7T>A (p.Trp3Arg)
13g.20189576dupCA2695217730GJB2c.7dup (p.Trp3LeufsTer?)
13g.20189576A=CA2077110104GJB2c.6T= (p.Asp2=)
13g.20189576A>CCA387462287GJB2c.6T>G (p.Asp2Glu)
13g.20189576A>GCA483154065GJB2c.6T>C (p.Asp2=)
ClinVar dbSNP
13g.20189576A>TCA387462286GJB2c.6T>A (p.Asp2Glu)
13g.20189577T>ACA387462288GJB2c.5A>T (p.Asp2Val)
13g.20189577T>CCA387462289GJB2c.5A>G (p.Asp2Gly)
13g.20189577T>GCA387462291GJB2c.5A>C (p.Asp2Ala)
13g.20189578C>ACA387462294GJB2c.4G>T (p.Asp2Tyr)
13g.20189578C>GCA387462295GJB2c.4G>C (p.Asp2His)
13g.20189578C>TCA387462296GJB2c.4G>A (p.Asp2Asn)
gnomAD v4
13g.20189579C>ACA387462298GJB2c.3G>T (p.Met1Ile)
13g.20189579C>GCA387462300GJB2c.3G>C (p.Met1Ile)
13g.20189579C>TCA387462302GJB2c.3G>A (p.Met1Ile)
ClinVar
13g.20189580A=CA2077110108GJB2c.2T= (p.Met1=)
13g.20189580A>CCA387462304GJB2c.2T>G (p.Met1Arg)
ClinVar dbSNP
13g.20189580A>GCA6904336GJB2c.2T>C (p.Met1Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189580A>TCA387462307GJB2c.2T>A (p.Met1Lys)
13g.20189581T>ACA387462311GJB2c.1A>T (p.Met1Leu)
ClinVar dbSNP gnomAD v4
13g.20189581T>CCA198806GJB2c.1A>G (p.Met1Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189581T>GCA387462309GJB2c.1A>C (p.Met1Leu)
13g.20189581T=CA2077110115GJB2c.1A= (p.Met1=)
13g.20189582C>ACA2077110121GJB2c.-1G>T (n.-1G>T)
dbSNP
13g.20189582C=CA2077110118GJB2c.-1G= (n.-1G=)
13g.20189582C>TCA6904337GJB2c.-1G>A (n.-1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189584T>CCA6904338GJB2c.-3A>G (n.-3A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189584T=CA2077110126GJB2c.-3A= (n.-3A=)
13g.20189586T>CCA2798416347GJB2c.-5A>G (n.-5A>G)
13g.20189587A=CA2077110130GJB2c.-6T= (n.-6T=)
13g.20189587A>TCA134946GJB2c.-6T>A (n.-6T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189588C=CA2077110138GJB2c.-7G= (n.-7G=)
13g.20189588C>GCA6904339GJB2c.-7G>C (n.-7G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189588C>TCA222243GJB2c.-7G>A (n.-7G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189589T>CCA6904340GJB2c.-8A>G (n.-8A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189589T=CA2077110154GJB2c.-8A= (n.-8A=)
13g.20189595_20189676delCA2622252312GJB2c.-89_-8del (n.-89_-8del)
c.-22-67_-8del
gnomAD v4
13g.20189591T>CCA246461148GJB2c.-10A>G (n.-10A>G)
dbSNP gnomAD v3 gnomAD v4
13g.20189591T=CA2077110158GJB2c.-10A= (n.-10A=)
13g.20189591_20189592delinsTGCA2077110161GJB2c.-11_-10delinsCA (n.-11_-10delinsCA)
13g.20189592G>ACA2622252313GJB2c.-11C>T (n.-11C>T)
gnomAD v4
13g.20189594delCA6904341GJB2c.-11del (n.-11del)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189593G>ACA2077110164GJB2c.-12C>T (n.-12C>T)
ClinVar dbSNP
13g.20189593G=CA2077110167GJB2c.-12C= (n.-12C=)
13g.20189594G>ACA696364163GJB2c.-13C>T (n.-13C>T)
dbSNP
13g.20189594G=CA2077110174GJB2c.-13C= (n.-13C=)
13g.20189594G>TCA953782246GJB2c.-13C>A (n.-13C>A)
dbSNP gnomAD v3 gnomAD v4
13g.20189595C=CA2077110177GJB2c.-14G= (n.-14G=)
13g.20189595C>TCA6904342GJB2c.-14G>A (n.-14G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189595_20189596delinsCGCA2077110181GJB2c.-15_-14delinsCG (n.-15_-14delinsCG)
13g.20189596G>ACA147793GJB2c.-15C>T (n.-15C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189596G>CCA2575364826GJB2c.-15C>G (n.-15C>G)
13g.20189596G=CA2077110187GJB2c.-15C= (n.-15C=)
13g.20189597delCA608984149GJB2c.-15del (n.-15del)
dbSNP gnomAD v2 gnomAD v4
13g.20189597G>ACA6904344GJB2c.-16C>T (n.-16C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189597G>CCA6904343GJB2c.-16C>G (n.-16C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189597G=CA2077110194GJB2c.-16C= (n.-16C=)
13g.20189601G>CCA2622252314GJB2c.-20C>G (n.-20C>G)
gnomAD v4
13g.20189601G>TCA2622252315GJB2c.-20C>A (n.-20C>A)
gnomAD v4
13g.20189602C>TCA2622252316GJB2c.-21G>A (n.-21G>A)
gnomAD v4

Number of alleles fetched