Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.121446919G>ACA452133965GJA1c.72G>A (p.Val24=)
6g.121446919G>CCA452133968GJA1c.72G>C (p.Val24=)
6g.121446919G>TCA452133966GJA1c.72G>T (p.Val24=)
6g.121446920T>ACA365557856GJA1c.73T>A (p.Trp25Arg)
6g.121446920T>CCA365557857GJA1c.73T>C (p.Trp25Arg)
6g.121446920T>GCA365557858GJA1c.73T>G (p.Trp25Gly)
6g.121446921G>ACA365557859GJA1c.74G>A (p.Trp25Ter)
6g.121446921G>CCA365557860GJA1c.74G>C (p.Trp25Ser)
6g.121446921G>TCA365557861GJA1c.74G>T (p.Trp25Leu)
6g.121446922G>ACA365557863GJA1c.75G>A (p.Trp25Ter)
6g.121446922G>CCA365557864GJA1c.75G>C (p.Trp25Cys)
ClinVar dbSNP
6g.121446922G=CA1659501478GJA1c.75G= (p.Trp25=)
6g.121446922G>TCA365557862GJA1c.75G>T (p.Trp25Cys)
6g.121446923C>ACA365557865GJA1c.76C>A (p.Leu26Met)
6g.121446923C>GCA365557866GJA1c.76C>G (p.Leu26Val)
6g.121446923C>TCA452133974GJA1c.76C>T (p.Leu26=)
6g.121446924T>ACA365557867GJA1c.77T>A (p.Leu26Gln)
6g.121446924T>CCA365557868GJA1c.77T>C (p.Leu26Pro)
6g.121446924T>GCA365557869GJA1c.77T>G (p.Leu26Arg)
6g.121446925G>ACA452133977GJA1c.78G>A (p.Leu26=)
6g.121446925G>CCA452133978GJA1c.78G>C (p.Leu26=)
6g.121446925G>TCA452133979GJA1c.78G>T (p.Leu26=)
6g.121446926T>ACA365557870GJA1c.79T>A (p.Ser27Thr)
6g.121446926T>CCA365557871GJA1c.79T>C (p.Ser27Pro)
6g.121446926T>GCA365557872GJA1c.79T>G (p.Ser27Ala)
dbSNP
6g.121446926T=CA1659501479GJA1c.79T= (p.Ser27=)
6g.121446927C>ACA365557873GJA1c.80C>A (p.Ser27Ter)
6g.121446927C>GCA365557874GJA1c.80C>G (p.Ser27Ter)
6g.121446927C>TCA365557875GJA1c.80C>T (p.Ser27Leu)
6g.121446928A=CA1659501480GJA1c.81A= (p.Ser27=)
6g.121446928A>CCA452133983GJA1c.81A>C (p.Ser27=)
6g.121446928A>GCA452133982GJA1c.81A>G (p.Ser27=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.121446928A>TCA452133981GJA1c.81A>T (p.Ser27=)
gnomAD v4
6g.121446929G>ACA365557878GJA1c.82G>A (p.Val28Ile)
gnomAD v4
6g.121446929G>CCA365557877GJA1c.82G>C (p.Val28Leu)
6g.121446929G>TCA365557876GJA1c.82G>T (p.Val28Leu)
6g.121446930T>ACA365557879GJA1c.83T>A (p.Val28Glu)
6g.121446930T>CCA365557880GJA1c.83T>C (p.Val28Ala)
6g.121446930T>GCA365557881GJA1c.83T>G (p.Val28Gly)
6g.121446931A>CCA452133986GJA1c.84A>C (p.Val28=)
6g.121446931A>GCA452133987GJA1c.84A>G (p.Val28=)
6g.121446931A>TCA452133988GJA1c.84A>T (p.Val28=)
6g.121446932C>ACA365557882GJA1c.85C>A (p.Leu29Ile)
6g.121446932C>GCA365557883GJA1c.85C>G (p.Leu29Val)
6g.121446932C>TCA365557884GJA1c.85C>T (p.Leu29Phe)
6g.121446933T>ACA365557885GJA1c.86T>A (p.Leu29His)
6g.121446933T>CCA365557886GJA1c.86T>C (p.Leu29Pro)
6g.121446933T>GCA365557887GJA1c.86T>G (p.Leu29Arg)
6g.121446934T>ACA452133991GJA1c.87T>A (p.Leu29=)
6g.121446934T>CCA452133992GJA1c.87T>C (p.Leu29=)
6g.121446934T>GCA452133993GJA1c.87T>G (p.Leu29=)
6g.121446935T>ACA365557888GJA1c.88T>A (p.Phe30Ile)
6g.121446935T>CCA365557889GJA1c.88T>C (p.Phe30Leu)
gnomAD v4
6g.121446935T>GCA365557890GJA1c.88T>G (p.Phe30Val)
6g.121446936T>ACA365557891GJA1c.89T>A (p.Phe30Tyr)
6g.121446936T>CCA365557893GJA1c.89T>C (p.Phe30Ser)
6g.121446936T>GCA365557892GJA1c.89T>G (p.Phe30Cys)
gnomAD v4
6g.121446937C>ACA365557894GJA1c.90C>A (p.Phe30Leu)
6g.121446937C>GCA365557895GJA1c.90C>G (p.Phe30Leu)
6g.121446937C>TCA452133998GJA1c.90C>T (p.Phe30=)
6g.121446938A=CA1659501481GJA1c.91A= (p.Ile31=)
6g.121446938A>CCA365557896GJA1c.91A>C (p.Ile31Leu)
6g.121446938A>GCA365557898GJA1c.91A>G (p.Ile31Val)
dbSNP
6g.121446938A>TCA365557897GJA1c.91A>T (p.Ile31Phe)
6g.121446939T>ACA365557899GJA1c.92T>A (p.Ile31Asn)
6g.121446939T>CCA365557900GJA1c.92T>C (p.Ile31Thr)
6g.121446939T>GCA365557901GJA1c.92T>G (p.Ile31Ser)
6g.121446940T>ACA452134000GJA1c.93T>A (p.Ile31=)
dbSNP
6g.121446940T>CCA452134001GJA1c.93T>C (p.Ile31=)
6g.121446940T>GCA365557902GJA1c.93T>G (p.Ile31Met)
ClinVar dbSNP
6g.121446940T=CA1659501482GJA1c.93T= (p.Ile31=)
6g.121446941T>ACA365557903GJA1c.94T>A (p.Phe32Ile)
6g.121446941T>CCA365557904GJA1c.94T>C (p.Phe32Leu)
6g.121446941T>GCA365557905GJA1c.94T>G (p.Phe32Val)
6g.121446942T>ACA365557906GJA1c.95T>A (p.Phe32Tyr)
6g.121446942T>CCA365557907GJA1c.95T>C (p.Phe32Ser)
6g.121446942T>GCA365557908GJA1c.95T>G (p.Phe32Cys)
6g.121446943C>ACA365557909GJA1c.96C>A (p.Phe32Leu)
6g.121446943C>GCA365557910GJA1c.96C>G (p.Phe32Leu)
6g.121446943C>TCA452134003GJA1c.96C>T (p.Phe32=)
6g.121446944C>ACA452134004GJA1c.97C>A (p.Arg33=)
6g.121446944C=CA1659501483GJA1c.97C= (p.Arg33=)
6g.121446944C>GCA365557911GJA1c.97C>G (p.Arg33Gly)
6g.121446944C>TCA127017GJA1c.97C>T (p.Arg33Ter)
ClinVar dbSNP ExAC gnomAD v4
6g.121446946_121446967dupCA2680195051GJA1c.99_120dup (p.Val41AsnfsTer9)
gnomAD v4
6g.121446945G>ACA146810020GJA1c.98G>A (p.Arg33Gln)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.121446945G>CCA365557912GJA1c.98G>C (p.Arg33Pro)
gnomAD v4
6g.121446945G=CA1659501484GJA1c.98G= (p.Arg33=)
6g.121446945G>TCA365557913GJA1c.98G>T (p.Arg33Leu)
6g.121446946_121446959dupCA2680195052GJA1c.99_112dup (p.Gly38GlufsTer?)
gnomAD v4
6g.121446946A=CA1659501485GJA1c.99A= (p.Arg33=)
6g.121446946A>CCA452134005GJA1c.99A>C (p.Arg33=)
6g.121446946A>GCA3981655GJA1c.99A>G (p.Arg33=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.121446946A>TCA452134006GJA1c.99A>T (p.Arg33=)
6g.121446947A>CCA365557914GJA1c.100A>C (p.Ile34Leu)
6g.121446947A>GCA365557915GJA1c.100A>G (p.Ile34Val)
6g.121446947A>TCA365557916GJA1c.100A>T (p.Ile34Phe)
6g.121446948_121446964dupCA570510544GJA1c.101_117dup (p.Ala40SerfsTer?)
dbSNP gnomAD v2 gnomAD v4
6g.121446948T>ACA365557917GJA1c.101T>A (p.Ile34Asn)
6g.121446948T>CCA365557918GJA1c.101T>C (p.Ile34Thr)
6g.121446948T>GCA365557919GJA1c.101T>G (p.Ile34Ser)
6g.121446949C>ACA452134007GJA1c.102C>A (p.Ile34=)
6g.121446949C=CA1659501486GJA1c.102C= (p.Ile34=)
6g.121446949C>GCA365557920GJA1c.102C>G (p.Ile34Met)
6g.121446949C>TCA452134008GJA1c.102C>T (p.Ile34=)
dbSNP gnomAD v3 gnomAD v4
6g.121446950C>ACA365557922GJA1c.103C>A (p.Leu35Met)
6g.121446950C=CA1659501487GJA1c.103C= (p.Leu35=)
6g.121446950C>GCA365557921GJA1c.103C>G (p.Leu35Val)
6g.121446950C>TCA3981656GJA1c.103C>T (p.Leu35=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.121446951T>ACA365557923GJA1c.104T>A (p.Leu35Gln)
6g.121446951T>CCA365557924GJA1c.104T>C (p.Leu35Pro)
6g.121446951T>GCA365557925GJA1c.104T>G (p.Leu35Arg)
6g.121446952G>ACA452134009GJA1c.105G>A (p.Leu35=)
6g.121446952G>CCA146810021GJA1c.105G>C (p.Leu35=)
dbSNP gnomAD v2 gnomAD v4
6g.121446952G=CA1659501488GJA1c.105G= (p.Leu35=)
6g.121446952G>TCA452134010GJA1c.105G>T (p.Leu35=)
gnomAD v4
6g.121446953C>ACA365557926GJA1c.106C>A (p.Leu36Met)
6g.121446953C=CA1659501489GJA1c.106C= (p.Leu36=)
6g.121446953C>GCA365557927GJA1c.106C>G (p.Leu36Val)
gnomAD v4
6g.121446953C>TCA452134011GJA1c.106C>T (p.Leu36=)
dbSNP gnomAD v2 gnomAD v4
6g.121446954T>ACA365557930GJA1c.107T>A (p.Leu36Gln)
6g.121446954T>CCA365557928GJA1c.107T>C (p.Leu36Pro)
6g.121446954T>GCA365557929GJA1c.107T>G (p.Leu36Arg)
6g.121446955G>ACA452134012GJA1c.108G>A (p.Leu36=)
gnomAD v4
6g.121446955G>CCA452134013GJA1c.108G>C (p.Leu36=)
gnomAD v4
6g.121446955G>TCA452134015GJA1c.108G>T (p.Leu36=)
6g.121446956C>ACA365557931GJA1c.109C>A (p.Leu37Met)
6g.121446956C=CA1659501490GJA1c.109C= (p.Leu37=)
6g.121446956C>GCA365557932GJA1c.109C>G (p.Leu37Val)
6g.121446956C>TCA452134016GJA1c.109C>T (p.Leu37=)
dbSNP gnomAD v4
6g.121446957T>ACA365557933GJA1c.110T>A (p.Leu37Gln)
6g.121446957T>CCA365557934GJA1c.110T>C (p.Leu37Pro)
COSMIC
6g.121446957T>GCA365557935GJA1c.110T>G (p.Leu37Arg)
6g.121446957dupCA2680195053GJA1c.110dup (p.Thr39AspfsTer4)
gnomAD v4
6g.121446958G>ACA452134018GJA1c.111G>A (p.Leu37=)
6g.121446958G>CCA452134019GJA1c.111G>C (p.Leu37=)
6g.121446958G>TCA452134020GJA1c.111G>T (p.Leu37=)
6g.121446959G>ACA365557936GJA1c.112G>A (p.Gly38Arg)
6g.121446959G>CCA365557938GJA1c.112G>C (p.Gly38Arg)
6g.121446959G>TCA365557937GJA1c.112G>T (p.Gly38Trp)
6g.121446960G>ACA365557939GJA1c.113G>A (p.Gly38Glu)
ClinVar
6g.121446960G>CCA365557940GJA1c.113G>C (p.Gly38Ala)
ClinVar dbSNP
6g.121446960G=CA1659501491GJA1c.113G= (p.Gly38=)
6g.121446960G>TCA365557941GJA1c.113G>T (p.Gly38Val)
6g.121446961G>ACA452134021GJA1c.114G>A (p.Gly38=)
COSMIC
6g.121446961G>CCA452134023GJA1c.114G>C (p.Gly38=)
6g.121446961G>TCA452134022GJA1c.114G>T (p.Gly38=)
6g.121446962A>CCA365557942GJA1c.115A>C (p.Thr39Pro)
6g.121446962A>GCA365557943GJA1c.115A>G (p.Thr39Ala)
6g.121446962A>TCA365557944GJA1c.115A>T (p.Thr39Ser)
6g.121446962_121446974delinsACAGCGGTTGAGTCA1659501492GJA1c.115_127delinsACAGCGGTTGAGT (p.Thr39=)
6g.121446963C>ACA365557945GJA1c.116C>A (p.Thr39Lys)
6g.121446963C>GCA365557946GJA1c.116C>G (p.Thr39Arg)
6g.121446963C>TCA365557947GJA1c.116C>T (p.Thr39Ile)
6g.121446966_121446967insCCAGCCA2680195054GJA1c.119_120insCCAGC (p.Val41GlnfsTer?)
gnomAD v4
6g.121446967_121446978delCA891842804GJA1c.120_131del (p.Val41_Ala44del)
ClinVar dbSNP
6g.121446964A=CA1659501493GJA1c.117A= (p.Thr39=)
6g.121446964A>CCA452134031GJA1c.117A>C (p.Thr39=)
6g.121446964A>GCA3981657GJA1c.117A>G (p.Thr39=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.121446964A>TCA452134035GJA1c.117A>T (p.Thr39=)
COSMIC
6g.121446965G>ACA365557950GJA1c.118G>A (p.Ala40Thr)
6g.121446965G>CCA365557949GJA1c.118G>C (p.Ala40Pro)
6g.121446965G>TCA365557948GJA1c.118G>T (p.Ala40Ser)
6g.121446966_121446968delCA2573140512GJA1c.119_121del (p.Ala40del)
ClinVar dbSNP
6g.121446966C>ACA365557951GJA1c.119C>A (p.Ala40Glu)
6g.121446966C=CA1659501494GJA1c.119C= (p.Ala40=)
6g.121446966C>GCA365557953GJA1c.119C>G (p.Ala40Gly)
6g.121446966C>TCA365557952GJA1c.119C>T (p.Ala40Val)
ClinVar dbSNP gnomAD v4
6g.121446967G>ACA452134041GJA1c.120G>A (p.Ala40=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.121446967G>CCA452134044GJA1c.120G>C (p.Ala40=)
6g.121446967G=CA1659501495GJA1c.120G= (p.Ala40=)
6g.121446967G>TCA452134042GJA1c.120G>T (p.Ala40=)
dbSNP gnomAD v2 gnomAD v4
6g.121446968G>ACA365557954GJA1c.121G>A (p.Val41Ile)
6g.121446968G>CCA365557955GJA1c.121G>C (p.Val41Leu)
ClinVar
6g.121446968G>TCA365557956GJA1c.121G>T (p.Val41Phe)
6g.121446969T>ACA365557957GJA1c.122T>A (p.Val41Asp)
6g.121446969T>CCA365557958GJA1c.122T>C (p.Val41Ala)
6g.121446969T>GCA365557959GJA1c.122T>G (p.Val41Gly)
6g.121446970T>ACA452134047GJA1c.123T>A (p.Val41=)
6g.121446970T>CCA452134048GJA1c.123T>C (p.Val41=)
6g.121446970T>GCA452134050GJA1c.123T>G (p.Val41=)
6g.121446971G>ACA365557960GJA1c.124G>A (p.Glu42Lys)
6g.121446971G>CCA365557961GJA1c.124G>C (p.Glu42Gln)
6g.121446971G>TCA365557962GJA1c.124G>T (p.Glu42Ter)
COSMIC
6g.121446972A>CCA365557963GJA1c.125A>C (p.Glu42Ala)
6g.121446972A>GCA365557964GJA1c.125A>G (p.Glu42Gly)
6g.121446972A>TCA365557965GJA1c.125A>T (p.Glu42Val)
6g.121446973G>ACA452134052GJA1c.126G>A (p.Glu42=)
6g.121446973G>CCA365557967GJA1c.126G>C (p.Glu42Asp)
6g.121446973G>TCA365557966GJA1c.126G>T (p.Glu42Asp)
6g.121446974T>ACA365557968GJA1c.127T>A (p.Ser43Thr)
6g.121446974T>CCA365557969GJA1c.127T>C (p.Ser43Pro)
6g.121446974T>GCA365557970GJA1c.127T>G (p.Ser43Ala)
6g.121446975C>ACA365557971GJA1c.128C>A (p.Ser43Ter)
6g.121446975C>GCA365557972GJA1c.128C>G (p.Ser43Ter)
6g.121446975C>TCA365557973GJA1c.128C>T (p.Ser43Leu)
6g.121446976A=CA1659501496GJA1c.129A= (p.Ser43=)
6g.121446976A>CCA452134057GJA1c.129A>C (p.Ser43=)
6g.121446976A>GCA3981658GJA1c.129A>G (p.Ser43=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.121446976A>TCA452134056GJA1c.129A>T (p.Ser43=)
6g.121446977G>ACA365557974GJA1c.130G>A (p.Ala44Thr)
6g.121446977G>CCA365557975GJA1c.130G>C (p.Ala44Pro)
6g.121446977G>TCA365557976GJA1c.130G>T (p.Ala44Ser)
6g.121446977_121446978delCA2680195055GJA1c.130_131del (p.Ala44LeufsTer4)
gnomAD v4
6g.121446978C>ACA365557977GJA1c.131C>A (p.Ala44Asp)
6g.121446978C=CA1659501497GJA1c.131C= (p.Ala44=)
6g.121446978C>GCA365557978GJA1c.131C>G (p.Ala44Gly)
6g.121446978C>TCA203901GJA1c.131C>T (p.Ala44Val)
ClinVar dbSNP
6g.121446979C>ACA452134061GJA1c.132C>A (p.Ala44=)
6g.121446979C=CA1659501498GJA1c.132C= (p.Ala44=)
6g.121446979C>GCA452134062GJA1c.132C>G (p.Ala44=)
6g.121446979C>TCA3981659GJA1c.132C>T (p.Ala44=)
dbSNP ExAC gnomAD v3 gnomAD v4
6g.121446980T>ACA365557981GJA1c.133T>A (p.Trp45Arg)
6g.121446980T>CCA365557979GJA1c.133T>C (p.Trp45Arg)
6g.121446980T>GCA365557980GJA1c.133T>G (p.Trp45Gly)
6g.121446981G>ACA365557982GJA1c.134G>A (p.Trp45Ter)
6g.121446981G>CCA365557983GJA1c.134G>C (p.Trp45Ser)
6g.121446981G>TCA365557984GJA1c.134G>T (p.Trp45Leu)
6g.121446982G>ACA365557987GJA1c.135G>A (p.Trp45Ter)
6g.121446982G>CCA365557986GJA1c.135G>C (p.Trp45Cys)
6g.121446982G=CA1659501499GJA1c.135G= (p.Trp45=)
6g.121446982G>TCA365557985GJA1c.135G>T (p.Trp45Cys)
6g.121446983G>ACA365557988GJA1c.136G>A (p.Gly46Arg)
6g.121446983G>CCA365557989GJA1c.136G>C (p.Gly46Arg)
6g.121446983G>TCA365557990GJA1c.136G>T (p.Gly46Ter)
6g.121446984_121446991dupCA818131504GJA1c.137_144dup (p.Gln49GlufsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.121446984G>ACA365557991GJA1c.137G>A (p.Gly46Glu)
6g.121446984G>CCA3981660GJA1c.137G>C (p.Gly46Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.121446984G=CA1659501500GJA1c.137G= (p.Gly46=)
6g.121446984G>TCA365557992GJA1c.137G>T (p.Gly46Val)
dbSNP
6g.121446985A>CCA452134068GJA1c.138A>C (p.Gly46=)
6g.121446985A>GCA452134069GJA1c.138A>G (p.Gly46=)
COSMIC
6g.121446985A>TCA452134070GJA1c.138A>T (p.Gly46=)
6g.121446986G>ACA365557993GJA1c.139G>A (p.Asp47Asn)
6g.121446986G>CCA365557995GJA1c.139G>C (p.Asp47His)
6g.121446986G>TCA365557994GJA1c.139G>T (p.Asp47Tyr)
6g.121446987A=CA1659501501GJA1c.140A= (p.Asp47=)
6g.121446987A>CCA365557996GJA1c.140A>C (p.Asp47Ala)
6g.121446987A>GCA365557997GJA1c.140A>G (p.Asp47Gly)
6g.121446987A>TCA365557998GJA1c.140A>T (p.Asp47Val)
ClinVar dbSNP
6g.121446988T>ACA365557999GJA1c.141T>A (p.Asp47Glu)
6g.121446988T>CCA452134076GJA1c.141T>C (p.Asp47=)
COSMIC
6g.121446988T>GCA365558000GJA1c.141T>G (p.Asp47Glu)
6g.121446989G>ACA365558001GJA1c.142G>A (p.Glu48Lys)
ClinVar dbSNP
6g.121446989G>CCA365558002GJA1c.142G>C (p.Glu48Gln)
6g.121446989G=CA1659501502GJA1c.142G= (p.Glu48=)
6g.121446989G>TCA365558003GJA1c.142G>T (p.Glu48Ter)
6g.121446990A>CCA365558004GJA1c.143A>C (p.Glu48Ala)
6g.121446990A>GCA365558005GJA1c.143A>G (p.Glu48Gly)
6g.121446990A>TCA365558006GJA1c.143A>T (p.Glu48Val)
6g.121446992_121446994dupCA2695206908GJA1c.145_147dup (p.Gln49_Ser50insGln)
6g.121446991G>ACA452134079GJA1c.144G>A (p.Glu48=)
gnomAD v4
6g.121446991G>CCA365558008GJA1c.144G>C (p.Glu48Asp)
6g.121446991G>TCA365558007GJA1c.144G>T (p.Glu48Asp)
6g.121446992C>ACA365558009GJA1c.145C>A (p.Gln49Lys)
COSMIC
6g.121446992C>GCA365558011GJA1c.145C>G (p.Gln49Glu)
6g.121446992C>TCA365558010GJA1c.145C>T (p.Gln49Ter)
6g.121446993A>CCA365558012GJA1c.146A>C (p.Gln49Pro)
6g.121446993A>GCA365558014GJA1c.146A>G (p.Gln49Arg)
6g.121446993A>TCA365558013GJA1c.146A>T (p.Gln49Leu)
gnomAD v4
6g.121446994G>ACA452134086GJA1c.147G>A (p.Gln49=)
6g.121446994G>CCA3981661GJA1c.147G>C (p.Gln49His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.121446994G=CA1659501503GJA1c.147G= (p.Gln49=)
6g.121446994G>TCA365558015GJA1c.147G>T (p.Gln49His)
6g.121446995T>ACA365558016GJA1c.148T>A (p.Ser50Thr)
6g.121446995T>CCA365558017GJA1c.148T>C (p.Ser50Pro)
6g.121446995T>GCA365558018GJA1c.148T>G (p.Ser50Ala)
6g.121446996C>ACA365558021GJA1c.149C>A (p.Ser50Tyr)
6g.121446996C>GCA365558020GJA1c.149C>G (p.Ser50Cys)
6g.121446996C>TCA365558019GJA1c.149C>T (p.Ser50Phe)
6g.121446997T>ACA452134093GJA1c.150T>A (p.Ser50=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.121446997T>CCA452134091GJA1c.150T>C (p.Ser50=)
gnomAD v4
6g.121446997T>GCA452134092GJA1c.150T>G (p.Ser50=)
6g.121446997T=CA1659501504GJA1c.150T= (p.Ser50=)
6g.121446998G>ACA365558022GJA1c.151G>A (p.Ala51Thr)
6g.121446998G>CCA365558023GJA1c.151G>C (p.Ala51Pro)
6g.121446998G>TCA365558024GJA1c.151G>T (p.Ala51Ser)
6g.121446999C>ACA365558025GJA1c.152C>A (p.Ala51Asp)
6g.121446999C>GCA365558026GJA1c.152C>G (p.Ala51Gly)
ClinVar
6g.121446999C>TCA365558027GJA1c.152C>T (p.Ala51Val)
6g.121447000C>ACA452134095GJA1c.153C>A (p.Ala51=)
6g.121447000C=CA1659501505GJA1c.153C= (p.Ala51=)
6g.121447000C>GCA452134096GJA1c.153C>G (p.Ala51=)
dbSNP
6g.121447000C>TCA452134098GJA1c.153C>T (p.Ala51=)
dbSNP
6g.121447001T>ACA365558028GJA1c.154T>A (p.Phe52Ile)
6g.121447001T>CCA365558030GJA1c.154T>C (p.Phe52Leu)
6g.121447001T>GCA365558029GJA1c.154T>G (p.Phe52Val)
6g.121447001_121447003dupCA913184965GJA1c.154_156dup (p.Phe52_Arg53insPhe)
ClinVar dbSNP
6g.121447002T>ACA365558031GJA1c.155T>A (p.Phe52Tyr)
6g.121447002T>CCA365558032GJA1c.155T>C (p.Phe52Ser)
6g.121447002T>GCA365558033GJA1c.155T>G (p.Phe52Cys)
6g.121447003T>ACA365558034GJA1c.156T>A (p.Phe52Leu)
6g.121447003T>CCA452134101GJA1c.156T>C (p.Phe52=)
6g.121447003T>GCA365558035GJA1c.156T>G (p.Phe52Leu)
6g.121447004C>ACA365558036GJA1c.157C>A (p.Arg53Ser)
6g.121447004C=CA1659501506GJA1c.157C= (p.Arg53=)
6g.121447004C>GCA365558037GJA1c.157C>G (p.Arg53Gly)
dbSNP gnomAD v4 COSMIC
6g.121447004C>TCA365558038GJA1c.157C>T (p.Arg53Cys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.121447005G>ACA365558039GJA1c.158G>A (p.Arg53His)
ClinVar gnomAD v4
6g.121447005G>CCA365558040GJA1c.158G>C (p.Arg53Pro)
6g.121447005G>TCA365558041GJA1c.158G>T (p.Arg53Leu)
COSMIC
6g.121447006T>ACA452134110GJA1c.159T>A (p.Arg53=)
6g.121447006T>CCA452134111GJA1c.159T>C (p.Arg53=)
6g.121447006T>GCA452134112GJA1c.159T>G (p.Arg53=)
6g.121447007T>ACA365558042GJA1c.160T>A (p.Cys54Ser)
6g.121447007T>CCA365558044GJA1c.160T>C (p.Cys54Arg)
6g.121447007T>GCA365558043GJA1c.160T>G (p.Cys54Gly)
6g.121447008G>ACA365558045GJA1c.161G>A (p.Cys54Tyr)
6g.121447008G>CCA365558046GJA1c.161G>C (p.Cys54Ser)
gnomAD v4
6g.121447008G>TCA365558047GJA1c.161G>T (p.Cys54Phe)
6g.121447009T>ACA365558049GJA1c.162T>A (p.Cys54Ter)
6g.121447009T>CCA452134120GJA1c.162T>C (p.Cys54=)
6g.121447009T>GCA365558051GJA1c.162T>G (p.Cys54Trp)
6g.121447009dupCA2499218051GJA1c.162dup (p.Asn55Ter)
ClinVar dbSNP
6g.121447010A>CCA365558053GJA1c.163A>C (p.Asn55His)
6g.121447010A>GCA365558054GJA1c.163A>G (p.Asn55Asp)
6g.121447010A>TCA365558055GJA1c.163A>T (p.Asn55Tyr)
6g.121447011A=CA1659501507GJA1c.164A= (p.Asn55=)
6g.121447011A>CCA365558056GJA1c.164A>C (p.Asn55Thr)
6g.121447011A>GCA365558057GJA1c.164A>G (p.Asn55Ser)
ClinVar dbSNP
6g.121447011A>TCA365558058GJA1c.164A>T (p.Asn55Ile)
6g.121447012C>ACA365558060GJA1c.165C>A (p.Asn55Lys)
6g.121447012C=CA1659501508GJA1c.165C= (p.Asn55=)
6g.121447012C>GCA365558062GJA1c.165C>G (p.Asn55Lys)
6g.121447012C>TCA452134125GJA1c.165C>T (p.Asn55=)
dbSNP gnomAD v2 gnomAD v4
6g.121447013A>CCA365558064GJA1c.166A>C (p.Thr56Pro)
6g.121447013A>GCA365558067GJA1c.166A>G (p.Thr56Ala)
6g.121447013A>TCA365558065GJA1c.166A>T (p.Thr56Ser)
6g.121447014C>ACA365558070GJA1c.167C>A (p.Thr56Asn)
6g.121447014C>GCA365558074GJA1c.167C>G (p.Thr56Ser)
6g.121447014C>TCA365558076GJA1c.167C>T (p.Thr56Ile)
6g.121447015T>ACA452134130GJA1c.168T>A (p.Thr56=)
6g.121447015T>CCA452134131GJA1c.168T>C (p.Thr56=)
dbSNP gnomAD v3 gnomAD v4
6g.121447015T>GCA3981662GJA1c.168T>G (p.Thr56=)
dbSNP ExAC gnomAD v2
6g.121447015T=CA1659501509GJA1c.168T= (p.Thr56=)
6g.121447015dupCA2695206909GJA1c.168dup (p.Gln57SerfsTer6)
6g.121447016C>ACA365558080GJA1c.169C>A (p.Gln57Lys)
6g.121447016C=CA1659501510GJA1c.169C= (p.Gln57=)
6g.121447016C>GCA365558082GJA1c.169C>G (p.Gln57Glu)
6g.121447016C>TCA365558084GJA1c.169C>T (p.Gln57Ter)
dbSNP gnomAD v2 gnomAD v4
6g.121447017A>CCA365558086GJA1c.170A>C (p.Gln57Pro)
6g.121447017A>GCA365558088GJA1c.170A>G (p.Gln57Arg)
6g.121447017A>TCA365558089GJA1c.170A>T (p.Gln57Leu)
6g.121447018G>ACA3981663GJA1c.171G>A (p.Gln57=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.121447018G>CCA365558094GJA1c.171G>C (p.Gln57His)
6g.121447018G=CA1659501511GJA1c.171G= (p.Gln57=)
6g.121447018G>TCA365558092GJA1c.171G>T (p.Gln57His)
6g.121447019C>ACA365558100GJA1c.172C>A (p.Gln58Lys)
6g.121447019C>GCA365558096GJA1c.172C>G (p.Gln58Glu)
6g.121447019C>TCA365558098GJA1c.172C>T (p.Gln58Ter)

Number of alleles fetched