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.20189536_20189550delinsGTTTGTTCACACCCCCA2077140555GJB2c.32_46delinsGGGGTGTGAACAAAC (p.Gly11=)
13g.20189537_20189550delCA608984146GJB2c.32_45del (p.Gly11AlafsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189538_20189551delCA2695217727GJB2c.31_44del (p.Gly11ThrfsTer?)
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
13g.20189604C>ACA2622252317GJB2c.-23G>T (n.-23G>T)
c.-22-1G>T (n.-22-1G>T)
gnomAD v4
13g.20189604C=CA2077110204GJB2c.-23G= (n.-23G=)
c.-22-1G= (n.-22-1G=)
13g.20189604C>TCA6904345GJB2c.-23G>A (n.-23G>A)
c.-22-1G>A (n.-22-1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189605_20189629delCA2798416348GJB2c.-47_-23del (n.-47_-23del)
c.-22-25_-22-1del (n.-22-25_-22-1del)
13g.20189605T>CCA246461181GJB2c.-24A>G (n.-24A>G)
c.-22-2A>G (n.-22-2A>G)
ClinVar dbSNP gnomAD v4
13g.20189605T>GCA6904346GJB2c.-24A>C (n.-24A>C)
c.-22-2A>C (n.-22-2A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189605T=CA2077110211GJB2c.-24A= (n.-24A=)
c.-22-2A= (n.-22-2A=)
13g.20189606G>ACA2622252318GJB2c.-25C>T (n.-25C>T)
c.-22-3C>T (n.-22-3C>T)
gnomAD v4
13g.20189607G>CCA246461184GJB2c.-26C>G (n.-26C>G)
c.-22-4C>G (n.-22-4C>G)
dbSNP gnomAD v4
13g.20189607G=CA2077110220GJB2c.-26C= (n.-26C=)
c.-22-4C= (n.-22-4C=)
13g.20189607G>TCA608984150GJB2c.-26C>A (n.-26C>A)
c.-22-4C>A (n.-22-4C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189608A=CA2077110224GJB2c.-27T= (n.-27T=)
c.-22-5T= (n.-22-5T=)
13g.20189608A>GCA696364174GJB2c.-27T>C (n.-27T>C)
c.-22-5T>C (n.-22-5T>C)
dbSNP
13g.20189611delCA2622252319GJB2c.-27del (n.-27del)
c.-22-5del (n.-22-5del)
gnomAD v4
13g.20189609A=CA2077110228GJB2c.-28T= (n.-28T=)
c.-22-6T= (n.-22-6T=)
13g.20189609A>GCA6904347GJB2c.-28T>C (n.-28T>C)
c.-22-6T>C (n.-22-6T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189610A=CA2077110234GJB2c.-29T= (n.-29T=)
c.-22-7T= (n.-22-7T=)
13g.20189610A>CCA2622252320GJB2c.-29T>G (n.-29T>G)
c.-22-7T>G (n.-22-7T>G)
gnomAD v4
13g.20189610A>GCA6904348GJB2c.-29T>C (n.-29T>C)
c.-22-7T>C (n.-22-7T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189612G>ACA608984151GJB2c.-31C>T (n.-31C>T)
c.-22-9C>T (n.-22-9C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189612G>CCA608984152GJB2c.-31C>G (n.-31C>G)
c.-22-9C>G (n.-22-9C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189612G=CA2077110238GJB2c.-31C= (n.-31C=)
c.-22-9C= (n.-22-9C=)
13g.20189613A=CA2077110245GJB2c.-32T= (n.-32T=)
c.-22-10T= (n.-22-10T=)
13g.20189613A>CCA2077110248GJB2c.-32T>G (n.-32T>G)
c.-22-10T>G (n.-22-10T>G)
dbSNP
13g.20189614C=CA2077110251GJB2c.-33G= (n.-33G=)
c.-22-11G= (n.-22-11G=)
13g.20189614C>GCA2622252321GJB2c.-33G>C (n.-33G>C)
c.-22-11G>C (n.-22-11G>C)
gnomAD v4
13g.20189614C>TCA6904349GJB2c.-33G>A (n.-33G>A)
c.-22-11G>A (n.-22-11G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189615G>ACA134942GJB2c.-34C>T (n.-34C>T)
c.-22-12C>T (n.-22-12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189615G>CCA658797994GJB2c.-34C>G (n.-34C>G)
c.-22-12C>G (n.-22-12C>G)
ClinVar dbSNP
13g.20189615G=CA2077110261GJB2c.-34C= (n.-34C=)
c.-22-12C= (n.-22-12C=)
13g.20189615G>TCA2622252322GJB2c.-34C>A (n.-34C>A)
c.-22-12C>A (n.-22-12C>A)
gnomAD v4
13g.20189615_20189616delinsGACA2077110269GJB2c.-35_-34delinsTC (n.-35_-34delinsTC)
c.-22-13_-22-12delinsTC (n.-22-13_-22-12delinsTC)
13g.20189617delCA608984153GJB2c.-35del (n.-35del)
c.-22-13del (n.-22-13del)
dbSNP gnomAD v2
13g.20189617A>GCA2575364827GJB2c.-36T>C (n.-36T>C)
c.-22-14T>C (n.-22-14T>C)
13g.20189619G>ACA608984154GJB2c.-38C>T (n.-38C>T)
c.-22-16C>T (n.-22-16C>T)
dbSNP gnomAD v2
13g.20189619G=CA2077110277GJB2c.-38C= (n.-38C=)
c.-22-16C= (n.-22-16C=)
13g.20189619G>TCA2622252323GJB2c.-38C>A (n.-38C>A)
c.-22-16C>A (n.-22-16C>A)
gnomAD v4
13g.20189620C=CA2077110284GJB2c.-39G= (n.-39G=)
c.-22-17G= (n.-22-17G=)
13g.20189620C>GCA6904350GJB2c.-39G>C (n.-39G>C)
c.-22-17G>C (n.-22-17G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189620C>TCA6904351GJB2c.-39G>A (n.-39G>A)
c.-22-17G>A (n.-22-17G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189621A=CA2077110288GJB2c.-40T= (n.-40T=)
c.-22-18T= (n.-22-18T=)
13g.20189621A>TCA6904352GJB2c.-40T>A (n.-40T>A)
c.-22-18T>A (n.-22-18T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189622C>TCA2575364828GJB2c.-41G>A (n.-41G>A)
c.-22-19G>A (n.-22-19G>A)
gnomAD v4
13g.20189623A>TCA2622252324GJB2c.-42T>A (n.-42T>A)
c.-22-20T>A (n.-22-20T>A)
gnomAD v4
13g.20189624C=CA2077110292GJB2c.-43G= (n.-43G=)
c.-22-21G= (n.-22-21G=)
13g.20189624C>TCA2077110294GJB2c.-43G>A (n.-43G>A)
c.-22-21G>A (n.-22-21G>A)
dbSNP gnomAD v4
13g.20189626A>GCA2798416349GJB2c.-45T>C (n.-45T>C)
c.-22-23T>C (n.-22-23T>C)
13g.20189626A>TCA2622252325GJB2c.-45T>A (n.-45T>A)
c.-22-23T>A (n.-22-23T>A)
gnomAD v4
13g.20189627C=CA2077110300GJB2c.-46G= (n.-46G=)
c.-22-24G= (n.-22-24G=)
13g.20189627C>TCA246461241GJB2c.-46G>A (n.-46G>A)
c.-22-24G>A (n.-22-24G>A)
dbSNP gnomAD v4
13g.20189628A=CA2077110306GJB2c.-47T= (n.-47T=)
c.-22-25T= (n.-22-25T=)
13g.20189628A>CCA2077110307GJB2c.-47T>G (n.-47T>G)
c.-22-25T>G (n.-22-25T>G)
dbSNP gnomAD v4
13g.20189630A>TCA2622252326GJB2c.-49T>A (n.-49T>A)
c.-22-27T>A (n.-22-27T>A)
gnomAD v4
13g.20189631_20189634delinsGGAACA2077110309GJB2c.-53_-50delinsTTCC (n.-53_-50delinsTTCC)
c.-22-31_-22-28delinsTTCC (n.-22-31_-22-28delinsTTCC)
13g.20189632G>ACA2622252327GJB2c.-51C>T (n.-51C>T)
c.-22-29C>T (n.-22-29C>T)
gnomAD v4
13g.20189632G>TCA2622252328GJB2c.-51C>A (n.-51C>A)
c.-22-29C>A (n.-22-29C>A)
gnomAD v4
13g.20189632_20189634delCA608984155GJB2c.-53_-51del (n.-53_-51del)
c.-22-31_-22-29del (n.-22-31_-22-29del)
dbSNP gnomAD v2
13g.20189634A>GCA2622252329GJB2c.-53T>C (n.-53T>C)
c.-22-31T>C (n.-22-31T>C)
gnomAD v4
13g.20189635T>CCA246461244GJB2c.-54A>G (n.-54A>G)
c.-22-32A>G (n.-22-32A>G)
dbSNP gnomAD v3 gnomAD v4
13g.20189635T=CA2077110316GJB2c.-54A= (n.-54A=)
c.-22-32A= (n.-22-32A=)
13g.20189635_20189656delCA2798416350GJB2c.-75_-54del (n.-75_-54del)
c.-22-53_-22-32del (n.-22-53_-22-32del)
13g.20189636C>ACA2622252330GJB2c.-55G>T (n.-55G>T)
c.-22-33G>T (n.-22-33G>T)
gnomAD v4
13g.20189637A=CA2077110326GJB2c.-56T= (n.-56T=)
c.-22-34T= (n.-22-34T=)
13g.20189637A>CCA696364220GJB2c.-56T>G (n.-56T>G)
c.-22-34T>G (n.-22-34T>G)
dbSNP gnomAD v3 gnomAD v4
13g.20189637A>GCA246461253GJB2c.-56T>C (n.-56T>C)
c.-22-34T>C (n.-22-34T>C)
dbSNP gnomAD v4
13g.20189638C>ACA10587166GJB2c.-57G>T (n.-57G>T)
c.-22-35G>T (n.-22-35G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189638C=CA2077110332GJB2c.-57G= (n.-57G=)
c.-22-35G= (n.-22-35G=)
13g.20189638C>TCA2622252331GJB2c.-57G>A (n.-57G>A)
c.-22-35G>A (n.-22-35G>A)
gnomAD v4
13g.20189639T>ACA2622252332GJB2c.-58A>T (n.-58A>T)
c.-22-36A>T (n.-22-36A>T)
gnomAD v4
13g.20189639T>CCA2077110345GJB2c.-58A>G (n.-58A>G)
c.-22-36A>G (n.-22-36A>G)
dbSNP gnomAD v4
13g.20189639T=CA2077110344GJB2c.-58A= (n.-58A=)
c.-22-36A= (n.-22-36A=)
13g.20189641G>ACA2622252333GJB2c.-60C>T (n.-60C>T)
c.-22-38C>T (n.-22-38C>T)
gnomAD v4
13g.20189641G>TCA2575364829GJB2c.-60C>A (n.-60C>A)
c.-22-38C>A (n.-22-38C>A)
gnomAD v4
13g.20189642delCA2575364830GJB2c.-61del (n.-61del)
c.-22-39del (n.-22-39del)
13g.20189642C=CA2077110347GJB2c.-61G= (n.-61G=)
c.-22-39G= (n.-22-39G=)
13g.20189642C>GCA2077110348GJB2c.-61G>C (n.-61G>C)
c.-22-39G>C (n.-22-39G>C)
dbSNP

Number of alleles fetched