Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.73977959G>ACA6181196UCP2c.264C>T (p.Arg88=)
c.183C>T (p.Arg61=)
c.267C>T (p.Arg89=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977959G>CCA475655734UCP2c.264C>G (p.Arg88=)
c.183C>G (p.Arg61=)
c.267C>G (p.Arg89=)
11g.73977959G=CA1982686254UCP2c.264C= (p.Arg88=)
c.183C= (p.Arg61=)
c.267C= (p.Arg89=)
11g.73977959G>TCA475655735UCP2c.264C>A (p.Arg88=)
c.183C>A (p.Arg61=)
c.267C>A (p.Arg89=)
11g.73977960C>ACA381811743UCP2c.263G>T (p.Arg88Leu)
c.182G>T (p.Arg61Leu)
c.266G>T (p.Arg89Leu)
11g.73977960C=CA1982686255UCP2c.263G= (p.Arg88=)
c.182G= (p.Arg61=)
c.266G= (p.Arg89=)
11g.73977960C>GCA381811744UCP2c.263G>C (p.Arg88Pro)
c.182G>C (p.Arg61Pro)
c.266G>C (p.Arg89Pro)
11g.73977960C>TCA6181197UCP2c.263G>A (p.Arg88His)
c.182G>A (p.Arg61His)
c.266G>A (p.Arg89His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977961G>ACA6181198UCP2c.262C>T (p.Arg88Cys)
c.181C>T (p.Arg61Cys)
c.265C>T (p.Arg89Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73977961G>CCA381811745UCP2c.262C>G (p.Arg88Gly)
c.181C>G (p.Arg61Gly)
c.265C>G (p.Arg89Gly)
11g.73977961G=CA1982686256UCP2c.262C= (p.Arg88=)
c.181C= (p.Arg61=)
c.265C= (p.Arg89=)
11g.73977961G>TCA381811746UCP2c.262C>A (p.Arg88Ser)
c.181C>A (p.Arg61Ser)
c.265C>A (p.Arg89Ser)
11g.73977962C>ACA381811747UCP2c.261G>T (p.Gln87His)
c.180G>T (p.Gln60His)
c.264G>T (p.Gln88His)
11g.73977962C>GCA381811748UCP2c.261G>C (p.Gln87His)
c.180G>C (p.Gln60His)
c.264G>C (p.Gln88His)
11g.73977962C>TCA475655739UCP2c.261G>A (p.Gln87=)
c.180G>A (p.Gln60=)
c.264G>A (p.Gln88=)
11g.73977963T>ACA381811749UCP2c.260A>T (p.Gln87Leu)
c.179A>T (p.Gln60Leu)
c.263A>T (p.Gln88Leu)
11g.73977963T>CCA224505689UCP2c.260A>G (p.Gln87Arg)
c.179A>G (p.Gln60Arg)
c.263A>G (p.Gln88Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.73977963T>GCA381811750UCP2c.260A>C (p.Gln87Pro)
c.179A>C (p.Gln60Pro)
c.263A>C (p.Gln88Pro)
 dbSNP gnomAD v4
11g.73977963T=CA1982686257UCP2c.260A= (p.Gln87=)
c.179A= (p.Gln60=)
c.263A= (p.Gln88=)
11g.73977964G>ACA6181199UCP2c.259C>T (p.Gln87Ter)
c.178C>T (p.Gln60Ter)
c.262C>T (p.Gln88Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977964G>CCA381811751UCP2c.259C>G (p.Gln87Glu)
c.178C>G (p.Gln60Glu)
c.262C>G (p.Gln88Glu)
11g.73977964G=CA1982686258UCP2c.259C= (p.Gln87=)
c.178C= (p.Gln60=)
c.262C= (p.Gln88=)
11g.73977964G>TCA381811752UCP2c.259C>A (p.Gln87Lys)
c.178C>A (p.Gln60Lys)
c.262C>A (p.Gln88Lys)
11g.73977965C>ACA475655741UCP2c.258G>T (p.Leu86=)
c.177G>T (p.Leu59=)
c.261G>T (p.Leu87=)
11g.73977965C=CA1982686259UCP2c.258G= (p.Leu86=)
c.177G= (p.Leu59=)
c.261G= (p.Leu87=)
11g.73977965C>GCA475655742UCP2c.258G>C (p.Leu86=)
c.177G>C (p.Leu59=)
c.261G>C (p.Leu87=)
11g.73977965C>TCA475655743UCP2c.258G>A (p.Leu86=)
c.177G>A (p.Leu59=)
c.261G>A (p.Leu87=)
 dbSNP gnomAD v3 gnomAD v4
11g.73977966A>CCA381811753UCP2c.257T>G (p.Leu86Arg)
c.176T>G (p.Leu59Arg)
c.260T>G (p.Leu87Arg)
11g.73977966A>GCA381811754UCP2c.257T>C (p.Leu86Pro)
c.176T>C (p.Leu59Pro)
c.260T>C (p.Leu87Pro)
11g.73977966A>TCA381811755UCP2c.257T>A (p.Leu86Gln)
c.176T>A (p.Leu59Gln)
c.260T>A (p.Leu87Gln)
 gnomAD v4
11g.73977967G>ACA475655744UCP2c.256C>T (p.Leu86=)
c.175C>T (p.Leu59=)
c.259C>T (p.Leu87=)
11g.73977967G>CCA381811757UCP2c.256C>G (p.Leu86Val)
c.175C>G (p.Leu59Val)
c.259C>G (p.Leu87Val)
11g.73977967G>TCA381811756UCP2c.256C>A (p.Leu86Met)
c.175C>A (p.Leu59Met)
c.259C>A (p.Leu87Met)
11g.73977968G>ACA6181200UCP2c.255C>T (p.Gly85=)
c.174C>T (p.Gly58=)
c.258C>T (p.Gly86=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977968G>CCA475655745UCP2c.255C>G (p.Gly85=)
c.174C>G (p.Gly58=)
c.258C>G (p.Gly86=)
11g.73977968G=CA1982686260UCP2c.255C= (p.Gly85=)
c.174C= (p.Gly58=)
c.258C= (p.Gly86=)
11g.73977968G>TCA475655746UCP2c.255C>A (p.Gly85=)
c.174C>A (p.Gly58=)
c.258C>A (p.Gly86=)
11g.73977969C>ACA6181201UCP2c.254G>T (p.Gly85Val)
c.173G>T (p.Gly58Val)
c.257G>T (p.Gly86Val)
 dbSNP ExAC gnomAD v2
11g.73977969C=CA1982686261UCP2c.254G= (p.Gly85=)
c.173G= (p.Gly58=)
c.257G= (p.Gly86=)
11g.73977969C>GCA381811758UCP2c.254G>C (p.Gly85Ala)
c.173G>C (p.Gly58Ala)
c.257G>C (p.Gly86Ala)
11g.73977969C>TCA381811759UCP2c.254G>A (p.Gly85Asp)
c.173G>A (p.Gly58Asp)
c.257G>A (p.Gly86Asp)
 gnomAD v4
11g.73977970C>ACA381811760UCP2c.253G>T (p.Gly85Cys)
c.172G>T (p.Gly58Cys)
c.256G>T (p.Gly86Cys)
11g.73977970C=CA1982686262UCP2c.253G= (p.Gly85=)
c.172G= (p.Gly58=)
c.256G= (p.Gly86=)
11g.73977970C>GCA381811761UCP2c.253G>C (p.Gly85Arg)
c.172G>C (p.Gly58Arg)
c.256G>C (p.Gly86Arg)
11g.73977970C>TCA6181202UCP2c.253G>A (p.Gly85Ser)
c.172G>A (p.Gly58Ser)
c.256G>A (p.Gly86Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977971G>ACA6181204UCP2c.252C>T (p.Ala84=)
c.171C>T (p.Ala57=)
c.255C>T (p.Ala85=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73977971G>CCA475655747UCP2c.252C>G (p.Ala84=)
c.171C>G (p.Ala57=)
c.255C>G (p.Ala85=)
11g.73977971G=CA1982686263UCP2c.252C= (p.Ala84=)
c.171C= (p.Ala57=)
c.255C= (p.Ala85=)
11g.73977971G>TCA6181203UCP2c.252C>A (p.Ala84=)
c.171C>A (p.Ala57=)
c.255C>A (p.Ala85=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977972G>ACA381811762UCP2c.251C>T (p.Ala84Val)
c.170C>T (p.Ala57Val)
c.254C>T (p.Ala85Val)
11g.73977972G>CCA381811763UCP2c.251C>G (p.Ala84Gly)
c.170C>G (p.Ala57Gly)
c.254C>G (p.Ala85Gly)
11g.73977972G>TCA381811764UCP2c.251C>A (p.Ala84Asp)
c.170C>A (p.Ala57Asp)
c.254C>A (p.Ala85Asp)
11g.73977973C>ACA381811766UCP2c.250G>T (p.Ala84Ser)
c.169G>T (p.Ala57Ser)
c.253G>T (p.Ala85Ser)
11g.73977973C>GCA381811767UCP2c.250G>C (p.Ala84Pro)
c.169G>C (p.Ala57Pro)
c.253G>C (p.Ala85Pro)
11g.73977973C>TCA381811765UCP2c.250G>A (p.Ala84Thr)
c.169G>A (p.Ala57Thr)
c.253G>A (p.Ala85Thr)
11g.73977974A>CCA475655750UCP2c.249T>G (p.Val83=)
c.168T>G (p.Val56=)
c.252T>G (p.Val84=)
11g.73977974A>GCA475655748UCP2c.249T>C (p.Val83=)
c.168T>C (p.Val56=)
c.252T>C (p.Val84=)
11g.73977974A>TCA475655749UCP2c.249T>A (p.Val83=)
c.168T>A (p.Val56=)
c.252T>A (p.Val84=)
11g.73977975A>CCA381811768UCP2c.248T>G (p.Val83Gly)
c.167T>G (p.Val56Gly)
c.251T>G (p.Val84Gly)
11g.73977975A>GCA381811769UCP2c.248T>C (p.Val83Ala)
c.167T>C (p.Val56Ala)
c.251T>C (p.Val84Ala)
11g.73977975A>TCA381811770UCP2c.248T>A (p.Val83Asp)
c.167T>A (p.Val56Asp)
c.251T>A (p.Val84Asp)
11g.73977975_73977976delinsACCA1982686264UCP2c.247_248delinsGT (p.Val83=)
c.166_167delinsGT (p.Val56=)
c.250_251delinsGT (p.Val84=)
11g.73977976C>ACA381811771UCP2c.247G>T (p.Val83Phe)
c.166G>T (p.Val56Phe)
c.250G>T (p.Val84Phe)
11g.73977976C=CA1982686265UCP2c.247G= (p.Val83=)
c.166G= (p.Val56=)
c.250G= (p.Val84=)
11g.73977976C>GCA381811772UCP2c.247G>C (p.Val83Leu)
c.166G>C (p.Val56Leu)
c.250G>C (p.Val84Leu)
 dbSNP gnomAD v4
11g.73977976C>TCA381811773UCP2c.247G>A (p.Val83Ile)
c.166G>A (p.Val56Ile)
c.250G>A (p.Val84Ile)
 dbSNP
11g.73977977delCA600245083UCP2c.247del (p.Val83LeufsTer8)
c.166del (p.Val56LeufsTer8)
c.250del (p.Val84LeufsTer8)
 dbSNP gnomAD v2 gnomAD v4
11g.73977977C>ACA475655751UCP2c.246G>T (p.Leu82=)
c.165G>T (p.Leu55=)
c.249G>T (p.Leu83=)
11g.73977977C>GCA475655753UCP2c.246G>C (p.Leu82=)
c.165G>C (p.Leu55=)
c.249G>C (p.Leu83=)
11g.73977977C>TCA475655752UCP2c.246G>A (p.Leu82=)
c.165G>A (p.Leu55=)
c.249G>A (p.Leu83=)
11g.73977978A>CCA381811774UCP2c.245T>G (p.Leu82Arg)
c.164T>G (p.Leu55Arg)
c.248T>G (p.Leu83Arg)
11g.73977978A>GCA381811776UCP2c.245T>C (p.Leu82Pro)
c.164T>C (p.Leu55Pro)
c.248T>C (p.Leu83Pro)
11g.73977978A>TCA381811775UCP2c.245T>A (p.Leu82Gln)
c.164T>A (p.Leu55Gln)
c.248T>A (p.Leu83Gln)
11g.73977979G>ACA475655754UCP2c.244C>T (p.Leu82=)
c.163C>T (p.Leu55=)
c.247C>T (p.Leu83=)
11g.73977979G>CCA381811777UCP2c.244C>G (p.Leu82Val)
c.163C>G (p.Leu55Val)
c.247C>G (p.Leu83Val)
11g.73977979G>TCA381811778UCP2c.244C>A (p.Leu82Met)
c.163C>A (p.Leu55Met)
c.247C>A (p.Leu83Met)
11g.73977980C>ACA475655755UCP2c.243G>T (p.Gly81=)
c.162G>T (p.Gly54=)
c.246G>T (p.Gly82=)
 dbSNP gnomAD v4
11g.73977980C=CA1982686266UCP2c.243G= (p.Gly81=)
c.162G= (p.Gly54=)
c.246G= (p.Gly82=)
11g.73977980C>GCA475655756UCP2c.243G>C (p.Gly81=)
c.162G>C (p.Gly54=)
c.246G>C (p.Gly82=)
11g.73977980C>TCA475655757UCP2c.243G>A (p.Gly81=)
c.162G>A (p.Gly54=)
c.246G>A (p.Gly82=)
11g.73977982delCA645594376UCP2c.243del (p.Leu82TrpfsTer9)
c.162del (p.Leu55TrpfsTer9)
c.246del (p.Leu83TrpfsTer9)
 COSMIC
11g.73977981C>ACA381811779UCP2c.242G>T (p.Gly81Val)
c.161G>T (p.Gly54Val)
c.245G>T (p.Gly82Val)
 gnomAD v4
11g.73977981C>GCA381811780UCP2c.242G>C (p.Gly81Ala)
c.161G>C (p.Gly54Ala)
c.245G>C (p.Gly82Ala)
11g.73977981C>TCA381811781UCP2c.242G>A (p.Gly81Glu)
c.161G>A (p.Gly54Glu)
c.245G>A (p.Gly82Glu)
 gnomAD v4
11g.73977982C>ACA381811783UCP2c.241G>T (p.Gly81Trp)
c.160G>T (p.Gly54Trp)
c.244G>T (p.Gly82Trp)
11g.73977982C>GCA381811784UCP2c.241G>C (p.Gly81Arg)
c.160G>C (p.Gly54Arg)
c.244G>C (p.Gly82Arg)
11g.73977982C>TCA381811782UCP2c.241G>A (p.Gly81Arg)
c.160G>A (p.Gly54Arg)
c.244G>A (p.Gly82Arg)
11g.73977983A=CA1982686267UCP2c.240T= (p.Asn80=)
c.159T= (p.Asn53=)
c.243T= (p.Asn81=)
11g.73977983A>CCA381811786UCP2c.240T>G (p.Asn80Lys)
c.159T>G (p.Asn53Lys)
c.243T>G (p.Asn81Lys)
11g.73977983A>GCA6181205UCP2c.240T>C (p.Asn80=)
c.159T>C (p.Asn53=)
c.243T>C (p.Asn81=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977983A>TCA381811785UCP2c.240T>A (p.Asn80Lys)
c.159T>A (p.Asn53Lys)
c.243T>A (p.Asn81Lys)
11g.73977984T>ACA381811787UCP2c.239A>T (p.Asn80Ile)
c.158A>T (p.Asn53Ile)
c.242A>T (p.Asn81Ile)
11g.73977984T>CCA381811788UCP2c.239A>G (p.Asn80Ser)
c.158A>G (p.Asn53Ser)
c.242A>G (p.Asn81Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.73977984T>GCA381811789UCP2c.239A>C (p.Asn80Thr)
c.158A>C (p.Asn53Thr)
c.242A>C (p.Asn81Thr)
11g.73977984T=CA1982686268UCP2c.239A= (p.Asn80=)
c.158A= (p.Asn53=)
c.242A= (p.Asn81=)
11g.73977985T>ACA381811790UCP2c.238A>T (p.Asn80Tyr)
c.157A>T (p.Asn53Tyr)
c.241A>T (p.Asn81Tyr)
11g.73977985T>CCA381811791UCP2c.238A>G (p.Asn80Asp)
c.157A>G (p.Asn53Asp)
c.241A>G (p.Asn81Asp)
 COSMIC
11g.73977985T>GCA381811792UCP2c.238A>C (p.Asn80His)
c.157A>C (p.Asn53His)
c.241A>C (p.Asn81His)
11g.73977986G>ACA475655758UCP2c.237C>T (p.Tyr79=)
c.156C>T (p.Tyr52=)
c.240C>T (p.Tyr80=)
 dbSNP
11g.73977986G>CCA381811793UCP2c.237C>G (p.Tyr79Ter)
c.156C>G (p.Tyr52Ter)
c.240C>G (p.Tyr80Ter)
11g.73977986G=CA1982686269UCP2c.237C= (p.Tyr79=)
c.156C= (p.Tyr52=)
c.240C= (p.Tyr80=)
11g.73977986G>TCA381811794UCP2c.237C>A (p.Tyr79Ter)
c.156C>A (p.Tyr52Ter)
c.240C>A (p.Tyr80Ter)
11g.73977987T>ACA381811795UCP2c.236A>T (p.Tyr79Phe)
c.155A>T (p.Tyr52Phe)
c.239A>T (p.Tyr80Phe)
11g.73977987T>CCA6181206UCP2c.236A>G (p.Tyr79Cys)
c.155A>G (p.Tyr52Cys)
c.239A>G (p.Tyr80Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977987T>GCA381811796UCP2c.236A>C (p.Tyr79Ser)
c.155A>C (p.Tyr52Ser)
c.239A>C (p.Tyr80Ser)
 gnomAD v4
11g.73977987T=CA1982686270UCP2c.236A= (p.Tyr79=)
c.155A= (p.Tyr52=)
c.239A= (p.Tyr80=)
11g.73977988A>CCA381811799UCP2c.235T>G (p.Tyr79Asp)
c.154T>G (p.Tyr52Asp)
c.238T>G (p.Tyr80Asp)
11g.73977988A>GCA381811798UCP2c.235T>C (p.Tyr79His)
c.154T>C (p.Tyr52His)
c.238T>C (p.Tyr80His)
11g.73977988A>TCA381811797UCP2c.235T>A (p.Tyr79Asn)
c.154T>A (p.Tyr52Asn)
c.238T>A (p.Tyr80Asn)
11g.73977989G>ACA475655759UCP2c.234C>T (p.Leu78=)
c.153C>T (p.Leu51=)
c.237C>T (p.Leu79=)
11g.73977989G>CCA475655760UCP2c.234C>G (p.Leu78=)
c.153C>G (p.Leu51=)
c.237C>G (p.Leu79=)
11g.73977989G>TCA475655761UCP2c.234C>A (p.Leu78=)
c.153C>A (p.Leu51=)
c.237C>A (p.Leu79=)
11g.73977990A>CCA381811800UCP2c.233T>G (p.Leu78Arg)
c.152T>G (p.Leu51Arg)
c.236T>G (p.Leu79Arg)
11g.73977990A>GCA381811801UCP2c.233T>C (p.Leu78Pro)
c.152T>C (p.Leu51Pro)
c.236T>C (p.Leu79Pro)
11g.73977990A>TCA381811802UCP2c.233T>A (p.Leu78His)
c.152T>A (p.Leu51His)
c.236T>A (p.Leu79His)
11g.73977991G>ACA6181207UCP2c.232C>T (p.Leu78Phe)
c.151C>T (p.Leu51Phe)
c.235C>T (p.Leu79Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73977991G>CCA381811803UCP2c.232C>G (p.Leu78Val)
c.151C>G (p.Leu51Val)
c.235C>G (p.Leu79Val)
 dbSNP
11g.73977991G=CA1982686271UCP2c.232C= (p.Leu78=)
c.151C= (p.Leu51=)
c.235C= (p.Leu79=)
11g.73977991G>TCA381811804UCP2c.232C>A (p.Leu78Ile)
c.151C>A (p.Leu51Ile)
c.235C>A (p.Leu79Ile)
11g.73977992G>ACA475655762UCP2c.231C>T (p.Ser77=)
c.150C>T (p.Ser50=)
c.234C>T (p.Ser78=)
11g.73977992G>CCA381811805UCP2c.231C>G (p.Ser77Arg)
c.150C>G (p.Ser50Arg)
c.234C>G (p.Ser78Arg)
11g.73977992G=CA1982686272UCP2c.231C= (p.Ser77=)
c.150C= (p.Ser50=)
c.234C= (p.Ser78=)
11g.73977992G>TCA381811806UCP2c.231C>A (p.Ser77Arg)
c.150C>A (p.Ser50Arg)
c.234C>A (p.Ser78Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73977993C>ACA381811807UCP2c.230G>T (p.Ser77Ile)
c.149G>T (p.Ser50Ile)
c.233G>T (p.Ser78Ile)
11g.73977993C=CA1982686273UCP2c.230G= (p.Ser77=)
c.149G= (p.Ser50=)
c.233G= (p.Ser78=)
11g.73977993C>GCA381811808UCP2c.230G>C (p.Ser77Thr)
c.149G>C (p.Ser50Thr)
c.233G>C (p.Ser78Thr)
11g.73977993C>TCA6181208UCP2c.230G>A (p.Ser77Asn)
c.149G>A (p.Ser50Asn)
c.233G>A (p.Ser78Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977994T>ACA381811809UCP2c.229A>T (p.Ser77Cys)
c.148A>T (p.Ser50Cys)
c.232A>T (p.Ser78Cys)
11g.73977994T>CCA381811810UCP2c.229A>G (p.Ser77Gly)
c.148A>G (p.Ser50Gly)
c.232A>G (p.Ser78Gly)
11g.73977994T>GCA381811811UCP2c.229A>C (p.Ser77Arg)
c.148A>C (p.Ser50Arg)
c.232A>C (p.Ser78Arg)
11g.73977995T>ACA475655763UCP2c.228A>T (p.Arg76=)
c.147A>T (p.Arg49=)
c.231A>T (p.Arg77=)
11g.73977995T>CCA475655764UCP2c.228A>G (p.Arg76=)
c.147A>G (p.Arg49=)
c.231A>G (p.Arg77=)
11g.73977995T>GCA475655765UCP2c.228A>C (p.Arg76=)
c.147A>C (p.Arg49=)
c.231A>C (p.Arg77=)
11g.73977996C>ACA381811813UCP2c.227G>T (p.Arg76Leu)
c.146G>T (p.Arg49Leu)
c.230G>T (p.Arg77Leu)
11g.73977996C=CA1982686274UCP2c.227G= (p.Arg76=)
c.146G= (p.Arg49=)
c.230G= (p.Arg77=)
11g.73977996C>GCA381811812UCP2c.227G>C (p.Arg76Pro)
c.146G>C (p.Arg49Pro)
c.230G>C (p.Arg77Pro)
11g.73977996C>TCA6181209UCP2c.227G>A (p.Arg76Gln)
c.146G>A (p.Arg49Gln)
c.230G>A (p.Arg77Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977996_73977997delinsCGCA1982686275UCP2c.226_227delinsCG (p.Arg76=)
c.145_146delinsCG (p.Arg49=)
c.229_230delinsCG (p.Arg77=)
11g.73977997G>ACA6181210UCP2c.226C>T (p.Arg76Ter)
c.145C>T (p.Arg49Ter)
c.229C>T (p.Arg77Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73977997G>CCA381811814UCP2c.226C>G (p.Arg76Gly)
c.145C>G (p.Arg49Gly)
c.229C>G (p.Arg77Gly)
11g.73977997G=CA1982686276UCP2c.226C= (p.Arg76=)
c.145C= (p.Arg49=)
c.229C= (p.Arg77=)
11g.73977997G>TCA475655766UCP2c.226C>A (p.Arg76=)
c.145C>A (p.Arg49=)
c.229C>A (p.Arg77=)
11g.73978001delCA600245084UCP2c.226del (p.Arg76GlufsTer15)
c.145del (p.Arg49GlufsTer15)
c.229del (p.Arg77GlufsTer15)
 dbSNP gnomAD v2 gnomAD v4
11g.73977998G>ACA475655767UCP2c.225C>T (p.Pro75=)
c.144C>T (p.Pro48=)
c.228C>T (p.Pro76=)
 gnomAD v4
11g.73977998G>CCA475655768UCP2c.225C>G (p.Pro75=)
c.144C>G (p.Pro48=)
c.228C>G (p.Pro76=)
11g.73977998G>TCA475655769UCP2c.225C>A (p.Pro75=)
c.144C>A (p.Pro48=)
c.228C>A (p.Pro76=)
11g.73977999G>ACA381811815UCP2c.224C>T (p.Pro75Leu)
c.143C>T (p.Pro48Leu)
c.227C>T (p.Pro76Leu)
11g.73977999G>CCA381811816UCP2c.224C>G (p.Pro75Arg)
c.143C>G (p.Pro48Arg)
c.227C>G (p.Pro76Arg)
11g.73977999G>TCA381811817UCP2c.224C>A (p.Pro75His)
c.143C>A (p.Pro48His)
c.227C>A (p.Pro76His)
11g.73978000G>ACA6181211UCP2c.223C>T (p.Pro75Ser)
c.142C>T (p.Pro48Ser)
c.226C>T (p.Pro76Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978000G>CCA381811818UCP2c.223C>G (p.Pro75Ala)
c.142C>G (p.Pro48Ala)
c.226C>G (p.Pro76Ala)
11g.73978000G=CA1982686277UCP2c.223C= (p.Pro75=)
c.142C= (p.Pro48=)
c.226C= (p.Pro76=)
11g.73978000G>TCA381811819UCP2c.223C>A (p.Pro75Thr)
c.142C>A (p.Pro48Thr)
c.226C>A (p.Pro76Thr)
11g.73978001G>ACA475655770UCP2c.222C>T (p.Gly74=)
c.141C>T (p.Gly47=)
c.225C>T (p.Gly75=)
 gnomAD v4
11g.73978001G>CCA475655771UCP2c.222C>G (p.Gly74=)
c.141C>G (p.Gly47=)
c.225C>G (p.Gly75=)
 dbSNP gnomAD v2 gnomAD v4
11g.73978001G=CA1982686278UCP2c.222C= (p.Gly74=)
c.141C= (p.Gly47=)
c.225C= (p.Gly75=)
11g.73978001G>TCA475655772UCP2c.222C>A (p.Gly74=)
c.141C>A (p.Gly47=)
c.225C>A (p.Gly75=)
11g.73978002C>ACA381811820UCP2c.221G>T (p.Gly74Val)
c.140G>T (p.Gly47Val)
c.224G>T (p.Gly75Val)
11g.73978002C=CA1982686279UCP2c.221G= (p.Gly74=)
c.140G= (p.Gly47=)
c.224G= (p.Gly75=)
11g.73978002C>GCA381811821UCP2c.221G>C (p.Gly74Ala)
c.140G>C (p.Gly47Ala)
c.224G>C (p.Gly75Ala)
 dbSNP
11g.73978002C>TCA381811822UCP2c.221G>A (p.Gly74Asp)
c.140G>A (p.Gly47Asp)
c.224G>A (p.Gly75Asp)
11g.73978003C>ACA381811823UCP2c.220G>T (p.Gly74Cys)
c.139G>T (p.Gly47Cys)
c.223G>T (p.Gly75Cys)
11g.73978003C=CA1982686280UCP2c.220G= (p.Gly74=)
c.139G= (p.Gly47=)
c.223G= (p.Gly75=)
11g.73978003C>GCA381811824UCP2c.220G>C (p.Gly74Arg)
c.139G>C (p.Gly47Arg)
c.223G>C (p.Gly75Arg)
 dbSNP
11g.73978003C>TCA381811825UCP2c.220G>A (p.Gly74Ser)
c.139G>A (p.Gly47Ser)
c.223G>A (p.Gly75Ser)
11g.73978004C>ACA381811826UCP2c.219G>T (p.Glu73Asp)
c.138G>T (p.Glu46Asp)
c.222G>T (p.Glu74Asp)
11g.73978004C>GCA381811827UCP2c.219G>C (p.Glu73Asp)
c.138G>C (p.Glu46Asp)
c.222G>C (p.Glu74Asp)
11g.73978004C>TCA475655773UCP2c.219G>A (p.Glu73=)
c.138G>A (p.Glu46=)
c.222G>A (p.Glu74=)
 gnomAD v4
11g.73978005T>ACA381811828UCP2c.218A>T (p.Glu73Val)
c.137A>T (p.Glu46Val)
c.221A>T (p.Glu74Val)
11g.73978005T>CCA381811829UCP2c.218A>G (p.Glu73Gly)
c.137A>G (p.Glu46Gly)
c.221A>G (p.Glu74Gly)
11g.73978005T>GCA381811830UCP2c.218A>C (p.Glu73Ala)
c.137A>C (p.Glu46Ala)
c.221A>C (p.Glu74Ala)
11g.73978006C>ACA381811831UCP2c.217G>T (p.Glu73Ter)
c.136G>T (p.Glu46Ter)
c.220G>T (p.Glu74Ter)
11g.73978006C=CA1982686281UCP2c.217G= (p.Glu73=)
c.136G= (p.Glu46=)
c.220G= (p.Glu74=)
11g.73978006C>GCA224505713UCP2c.217G>C (p.Glu73Gln)
c.136G>C (p.Glu46Gln)
c.220G>C (p.Glu74Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978006C>TCA6181212UCP2c.217G>A (p.Glu73Lys)
c.136G>A (p.Glu46Lys)
c.220G>A (p.Glu74Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978007A>CCA475655774UCP2c.216T>G (p.Thr72=)
c.135T>G (p.Thr45=)
c.219T>G (p.Thr73=)
11g.73978007A>GCA475655775UCP2c.216T>C (p.Thr72=)
c.135T>C (p.Thr45=)
c.219T>C (p.Thr73=)
 gnomAD v4
11g.73978007A>TCA475655776UCP2c.216T>A (p.Thr72=)
c.135T>A (p.Thr45=)
c.219T>A (p.Thr73=)
11g.73978008G>ACA381811832UCP2c.215C>T (p.Thr72Ile)
c.134C>T (p.Thr45Ile)
c.218C>T (p.Thr73Ile)
 gnomAD v4
11g.73978008G>CCA381811833UCP2c.215C>G (p.Thr72Ser)
c.134C>G (p.Thr45Ser)
c.218C>G (p.Thr73Ser)
 dbSNP gnomAD v4
11g.73978008G=CA1982686282UCP2c.215C= (p.Thr72=)
c.134C= (p.Thr45=)
c.218C= (p.Thr73=)
11g.73978008G>TCA381811834UCP2c.215C>A (p.Thr72Asn)
c.134C>A (p.Thr45Asn)
c.218C>A (p.Thr73Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.73978009T>ACA381811835UCP2c.214A>T (p.Thr72Ser)
c.133A>T (p.Thr45Ser)
c.217A>T (p.Thr73Ser)
11g.73978009T>CCA381811836UCP2c.214A>G (p.Thr72Ala)
c.133A>G (p.Thr45Ala)
c.217A>G (p.Thr73Ala)
11g.73978009T>GCA381811837UCP2c.214A>C (p.Thr72Pro)
c.133A>C (p.Thr45Pro)
c.217A>C (p.Thr73Pro)
11g.73978010A>CCA475655777UCP2c.213T>G (p.Arg71=)
c.132T>G (p.Arg44=)
c.216T>G (p.Arg72=)
11g.73978010A>GCA475655778UCP2c.213T>C (p.Arg71=)
c.132T>C (p.Arg44=)
c.216T>C (p.Arg72=)
11g.73978010A>TCA475655779UCP2c.213T>A (p.Arg71=)
c.132T>A (p.Arg44=)
c.216T>A (p.Arg72=)
11g.73978011delCA2615057209UCP2c.212del (p.Arg71LeufsTer20)
c.131del (p.Arg44LeufsTer20)
c.215del (p.Arg72LeufsTer20)
 gnomAD v4
11g.73978011C>ACA381811838UCP2c.212G>T (p.Arg71Leu)
c.131G>T (p.Arg44Leu)
c.215G>T (p.Arg72Leu)
 gnomAD v4 COSMIC
11g.73978011C=CA1982686283UCP2c.212G= (p.Arg71=)
c.131G= (p.Arg44=)
c.215G= (p.Arg72=)
11g.73978011C>GCA381811839UCP2c.212G>C (p.Arg71Pro)
c.131G>C (p.Arg44Pro)
c.215G>C (p.Arg72Pro)
11g.73978011C>TCA6181213UCP2c.212G>A (p.Arg71His)
c.131G>A (p.Arg44His)
c.215G>A (p.Arg72His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73978012G>ACA381811840UCP2c.211C>T (p.Arg71Cys)
c.130C>T (p.Arg44Cys)
c.214C>T (p.Arg72Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.73978012G>CCA381811842UCP2c.211C>G (p.Arg71Gly)
c.130C>G (p.Arg44Gly)
c.214C>G (p.Arg72Gly)
11g.73978012G=CA1982686284UCP2c.211C= (p.Arg71=)
c.130C= (p.Arg44=)
c.214C= (p.Arg72=)
11g.73978012G>TCA381811841UCP2c.211C>A (p.Arg71Ser)
c.130C>A (p.Arg44Ser)
c.214C>A (p.Arg72Ser)
11g.73978013C>ACA475655780UCP2c.210G>T (p.Val70=)
c.129G>T (p.Val43=)
c.213G>T (p.Val71=)
11g.73978013C=CA1982686286UCP2c.210G= (p.Val70=)
c.129G= (p.Val43=)
c.213G= (p.Val71=)
11g.73978013C>GCA475655781UCP2c.210G>C (p.Val70=)
c.129G>C (p.Val43=)
c.213G>C (p.Val71=)
11g.73978013C>TCA475655782UCP2c.210G>A (p.Val70=)
c.129G>A (p.Val43=)
c.213G>A (p.Val71=)
 dbSNP
11g.73978013_73978021delinsCACCATGGTCA1982686285UCP2c.202_210delinsACCATGGTG (p.Thr68=)
c.121_129delinsACCATGGTG (p.Thr41=)
c.205_213delinsACCATGGTG (p.Thr69=)
11g.73978014A>CCA381811843UCP2c.209T>G (p.Val70Gly)
c.128T>G (p.Val43Gly)
c.212T>G (p.Val71Gly)
11g.73978014A>GCA381811844UCP2c.209T>C (p.Val70Ala)
c.128T>C (p.Val43Ala)
c.212T>C (p.Val71Ala)
11g.73978014A>TCA381811845UCP2c.209T>A (p.Val70Glu)
c.128T>A (p.Val43Glu)
c.212T>A (p.Val71Glu)
11g.73978014_73978021delCA6181214UCP2c.202_209del (p.Thr68AlafsTer3)
c.121_128del (p.Thr41AlafsTer3)
c.205_212del (p.Thr69AlafsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978015C>ACA381811846UCP2c.208G>T (p.Val70Leu)
c.127G>T (p.Val43Leu)
c.211G>T (p.Val71Leu)
 gnomAD v4 COSMIC
11g.73978015C>GCA381811847UCP2c.208G>C (p.Val70Leu)
c.127G>C (p.Val43Leu)
c.211G>C (p.Val71Leu)
11g.73978015C>TCA381811848UCP2c.208G>A (p.Val70Met)
c.127G>A (p.Val43Met)
c.211G>A (p.Val71Met)
11g.73978016dupCA2615057215UCP2c.208dup (p.Val70GlyfsTer4)
c.127dup (p.Val43GlyfsTer4)
c.211dup (p.Val71GlyfsTer4)
 gnomAD v4
11g.73978016C>ACA381811849UCP2c.207G>T (p.Met69Ile)
c.126G>T (p.Met42Ile)
c.210G>T (p.Met70Ile)
11g.73978016C>GCA381811850UCP2c.207G>C (p.Met69Ile)
c.126G>C (p.Met42Ile)
c.210G>C (p.Met70Ile)
11g.73978016C>TCA381811851UCP2c.207G>A (p.Met69Ile)
c.126G>A (p.Met42Ile)
c.210G>A (p.Met70Ile)
11g.73978017A>CCA381811854UCP2c.206T>G (p.Met69Arg)
c.125T>G (p.Met42Arg)
c.209T>G (p.Met70Arg)
11g.73978017A>GCA381811853UCP2c.206T>C (p.Met69Thr)
c.125T>C (p.Met42Thr)
c.209T>C (p.Met70Thr)
11g.73978017A>TCA381811852UCP2c.206T>A (p.Met69Lys)
c.125T>A (p.Met42Lys)
c.209T>A (p.Met70Lys)
11g.73978018T>ACA381811855UCP2c.205A>T (p.Met69Leu)
c.124A>T (p.Met42Leu)
c.208A>T (p.Met70Leu)
11g.73978018T>CCA381811856UCP2c.205A>G (p.Met69Val)
c.124A>G (p.Met42Val)
c.208A>G (p.Met70Val)
 gnomAD v4 COSMIC
11g.73978018T>GCA381811857UCP2c.205A>C (p.Met69Leu)
c.124A>C (p.Met42Leu)
c.208A>C (p.Met70Leu)
11g.73978019G>ACA475655783UCP2c.204C>T (p.Thr68=)
c.123C>T (p.Thr41=)
c.207C>T (p.Thr69=)
11g.73978019G>CCA475655784UCP2c.204C>G (p.Thr68=)
c.123C>G (p.Thr41=)
c.207C>G (p.Thr69=)
11g.73978019G>TCA475655785UCP2c.204C>A (p.Thr68=)
c.123C>A (p.Thr41=)
c.207C>A (p.Thr69=)
11g.73978020G>ACA381811858UCP2c.203C>T (p.Thr68Ile)
c.122C>T (p.Thr41Ile)
c.206C>T (p.Thr69Ile)
11g.73978020G>CCA381811859UCP2c.203C>G (p.Thr68Ser)
c.122C>G (p.Thr41Ser)
c.206C>G (p.Thr69Ser)
11g.73978020G=CA1982686287UCP2c.203C= (p.Thr68=)
c.122C= (p.Thr41=)
c.206C= (p.Thr69=)
11g.73978020G>TCA224505730UCP2c.203C>A (p.Thr68Asn)
c.122C>A (p.Thr41Asn)
c.206C>A (p.Thr69Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978021T>ACA381811860UCP2c.202A>T (p.Thr68Ser)
c.121A>T (p.Thr41Ser)
c.205A>T (p.Thr69Ser)
11g.73978021T>CCA381811861UCP2c.202A>G (p.Thr68Ala)
c.121A>G (p.Thr41Ala)
c.205A>G (p.Thr69Ala)
11g.73978021T>GCA381811862UCP2c.202A>C (p.Thr68Pro)
c.121A>C (p.Thr41Pro)
c.205A>C (p.Thr69Pro)
11g.73978022C>ACA475655786UCP2c.201G>T (p.Leu67=)
c.120G>T (p.Leu40=)
c.204G>T (p.Leu68=)
11g.73978022C=CA1982686288UCP2c.201G= (p.Leu67=)
c.120G= (p.Leu40=)
c.204G= (p.Leu68=)
11g.73978022C>GCA475655787UCP2c.201G>C (p.Leu67=)
c.120G>C (p.Leu40=)
c.204G>C (p.Leu68=)
11g.73978022C>TCA475655788UCP2c.201G>A (p.Leu67=)
c.120G>A (p.Leu40=)
c.204G>A (p.Leu68=)
 dbSNP gnomAD v3 gnomAD v4
11g.73978023A>CCA381811863UCP2c.200T>G (p.Leu67Arg)
c.119T>G (p.Leu40Arg)
c.203T>G (p.Leu68Arg)
11g.73978023A>GCA381811864UCP2c.200T>C (p.Leu67Pro)
c.119T>C (p.Leu40Pro)
c.203T>C (p.Leu68Pro)
11g.73978023A>TCA381811865UCP2c.200T>A (p.Leu67Gln)
c.119T>A (p.Leu40Gln)
c.203T>A (p.Leu68Gln)
11g.73978024G>ACA475655789UCP2c.199C>T (p.Leu67=)
c.118C>T (p.Leu40=)
c.202C>T (p.Leu68=)
 dbSNP gnomAD v2 gnomAD v4
11g.73978024G>CCA381811867UCP2c.199C>G (p.Leu67Val)
c.118C>G (p.Leu40Val)
c.202C>G (p.Leu68Val)
11g.73978024G=CA1982686289UCP2c.199C= (p.Leu67=)
c.118C= (p.Leu40=)
c.202C= (p.Leu68=)
11g.73978024G>TCA381811866UCP2c.199C>A (p.Leu67Met)
c.118C>A (p.Leu40Met)
c.202C>A (p.Leu68Met)
11g.73978025A>CCA381811868UCP2c.198T>G (p.Ile66Met)
c.117T>G (p.Ile39Met)
c.201T>G (p.Ile67Met)
11g.73978025A>GCA475655791UCP2c.198T>C (p.Ile66=)
c.117T>C (p.Ile39=)
c.201T>C (p.Ile67=)
11g.73978025A>TCA475655790UCP2c.198T>A (p.Ile66=)
c.117T>A (p.Ile39=)
c.201T>A (p.Ile67=)
11g.73978026A=CA1982686290UCP2c.197T= (p.Ile66=)
c.116T= (p.Ile39=)
c.200T= (p.Ile67=)
11g.73978026A>CCA381811869UCP2c.197T>G (p.Ile66Ser)
c.116T>G (p.Ile39Ser)
c.200T>G (p.Ile67Ser)
11g.73978026A>GCA381811870UCP2c.197T>C (p.Ile66Thr)
c.116T>C (p.Ile39Thr)
c.200T>C (p.Ile67Thr)
 gnomAD v4
11g.73978026A>TCA381811871UCP2c.197T>A (p.Ile66Asn)
c.116T>A (p.Ile39Asn)
c.200T>A (p.Ile67Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.73978027T>ACA381811872UCP2c.196A>T (p.Ile66Phe)
c.115A>T (p.Ile39Phe)
c.199A>T (p.Ile67Phe)
11g.73978027T>CCA6181215UCP2c.196A>G (p.Ile66Val)
c.115A>G (p.Ile39Val)
c.199A>G (p.Ile67Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978027T>GCA381811873UCP2c.196A>C (p.Ile66Leu)
c.115A>C (p.Ile39Leu)
c.199A>C (p.Ile67Leu)
11g.73978027T=CA1982686291UCP2c.196A= (p.Ile66=)
c.115A= (p.Ile39=)
c.199A= (p.Ile67=)
11g.73978028G>ACA475655792UCP2c.195C>T (p.Thr65=)
c.114C>T (p.Thr38=)
c.198C>T (p.Thr66=)
 dbSNP
11g.73978028G>CCA475655793UCP2c.195C>G (p.Thr65=)
c.114C>G (p.Thr38=)
c.198C>G (p.Thr66=)
11g.73978028G=CA1982686292UCP2c.195C= (p.Thr65=)
c.114C= (p.Thr38=)
c.198C= (p.Thr66=)
11g.73978028G>TCA475655794UCP2c.195C>A (p.Thr65=)
c.114C>A (p.Thr38=)
c.198C>A (p.Thr66=)
11g.73978029G>ACA6181216UCP2c.194C>T (p.Thr65Ile)
c.113C>T (p.Thr38Ile)
c.197C>T (p.Thr66Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978029G>CCA381811875UCP2c.194C>G (p.Thr65Ser)
c.113C>G (p.Thr38Ser)
c.197C>G (p.Thr66Ser)
11g.73978029G=CA1982686293UCP2c.194C= (p.Thr65=)
c.113C= (p.Thr38=)
c.197C= (p.Thr66=)
11g.73978029G>TCA381811874UCP2c.194C>A (p.Thr65Asn)
c.113C>A (p.Thr38Asn)
c.197C>A (p.Thr66Asn)
11g.73978030T>ACA381811876UCP2c.193A>T (p.Thr65Ser)
c.112A>T (p.Thr38Ser)
c.196A>T (p.Thr66Ser)
11g.73978030T>CCA381811877UCP2c.193A>G (p.Thr65Ala)
c.112A>G (p.Thr38Ala)
c.196A>G (p.Thr66Ala)
11g.73978030T>GCA381811878UCP2c.193A>C (p.Thr65Pro)
c.112A>C (p.Thr38Pro)
c.196A>C (p.Thr66Pro)
11g.73978031G>ACA6181217UCP2c.192C>T (p.Gly64=)
c.111C>T (p.Gly37=)
c.195C>T (p.Gly65=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978031G>CCA475655795UCP2c.192C>G (p.Gly64=)
c.111C>G (p.Gly37=)
c.195C>G (p.Gly65=)
11g.73978031G=CA1982686294UCP2c.192C= (p.Gly64=)
c.111C= (p.Gly37=)
c.195C= (p.Gly65=)
11g.73978031G>TCA475655796UCP2c.192C>A (p.Gly64=)
c.111C>A (p.Gly37=)
c.195C>A (p.Gly65=)
11g.73978032C>ACA381811879UCP2c.191G>T (p.Gly64Val)
c.110G>T (p.Gly37Val)
c.194G>T (p.Gly65Val)
11g.73978032C>GCA381811881UCP2c.191G>C (p.Gly64Ala)
c.110G>C (p.Gly37Ala)
c.194G>C (p.Gly65Ala)
 gnomAD v4
11g.73978032C>TCA381811880UCP2c.191G>A (p.Gly64Asp)
c.110G>A (p.Gly37Asp)
c.194G>A (p.Gly65Asp)
11g.73978033C>ACA381811882UCP2c.190G>T (p.Gly64Cys)
c.109G>T (p.Gly37Cys)
c.193G>T (p.Gly65Cys)
11g.73978033C>GCA381811883UCP2c.190G>C (p.Gly64Arg)
c.109G>C (p.Gly37Arg)
c.193G>C (p.Gly65Arg)
 gnomAD v4
11g.73978033C>TCA381811884UCP2c.190G>A (p.Gly64Ser)
c.109G>A (p.Gly37Ser)
c.193G>A (p.Gly65Ser)
11g.73978034C>ACA381811885UCP2c.189G>T (p.Met63Ile)
c.108G>T (p.Met36Ile)
c.192G>T (p.Met64Ile)
11g.73978034C>GCA381811886UCP2c.189G>C (p.Met63Ile)
c.108G>C (p.Met36Ile)
c.192G>C (p.Met64Ile)
11g.73978034C>TCA381811887UCP2c.189G>A (p.Met63Ile)
c.108G>A (p.Met36Ile)
c.192G>A (p.Met64Ile)
 dbSNP
11g.73978035A>CCA381811888UCP2c.188T>G (p.Met63Arg)
c.107T>G (p.Met36Arg)
c.191T>G (p.Met64Arg)
11g.73978035A>GCA381811889UCP2c.188T>C (p.Met63Thr)
c.107T>C (p.Met36Thr)
c.191T>C (p.Met64Thr)
11g.73978035A>TCA381811890UCP2c.188T>A (p.Met63Lys)
c.107T>A (p.Met36Lys)
c.191T>A (p.Met64Lys)
11g.73978036T>ACA381811891UCP2c.187A>T (p.Met63Leu)
c.106A>T (p.Met36Leu)
c.190A>T (p.Met64Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.73978036T>CCA381811892UCP2c.187A>G (p.Met63Val)
c.106A>G (p.Met36Val)
c.190A>G (p.Met64Val)
11g.73978036T>GCA381811893UCP2c.187A>C (p.Met63Leu)
c.106A>C (p.Met36Leu)
c.190A>C (p.Met64Leu)
11g.73978036T=CA1982686295UCP2c.187A= (p.Met63=)
c.106A= (p.Met36=)
c.190A= (p.Met64=)
11g.73978037C>ACA475655797UCP2c.186G>T (p.Val62=)
c.105G>T (p.Val35=)
c.189G>T (p.Val63=)
11g.73978037C>GCA475655798UCP2c.186G>C (p.Val62=)
c.105G>C (p.Val35=)
c.189G>C (p.Val63=)
11g.73978037C>TCA475655799UCP2c.186G>A (p.Val62=)
c.105G>A (p.Val35=)
c.189G>A (p.Val63=)
11g.73978038A>CCA381811896UCP2c.185T>G (p.Val62Gly)
c.104T>G (p.Val35Gly)
c.188T>G (p.Val63Gly)
11g.73978038A>GCA381811895UCP2c.185T>C (p.Val62Ala)
c.104T>C (p.Val35Ala)
c.188T>C (p.Val63Ala)
11g.73978038A>TCA381811894UCP2c.185T>A (p.Val62Glu)
c.104T>A (p.Val35Glu)
c.188T>A (p.Val63Glu)
11g.73978039C>ACA381811898UCP2c.184G>T (p.Val62Leu)
c.103G>T (p.Val35Leu)
c.187G>T (p.Val63Leu)
11g.73978039C>GCA381811897UCP2c.184G>C (p.Val62Leu)
c.103G>C (p.Val35Leu)
c.187G>C (p.Val63Leu)
11g.73978039C>TCA381811899UCP2c.184G>A (p.Val62Met)
c.103G>A (p.Val35Met)
c.187G>A (p.Val63Met)
11g.73978040A=CA1982686296UCP2c.183T= (p.Gly61=)
c.102T= (p.Gly34=)
c.186T= (p.Gly62=)
11g.73978040A>CCA475655800UCP2c.183T>G (p.Gly61=)
c.102T>G (p.Gly34=)
c.186T>G (p.Gly62=)
 dbSNP gnomAD v4
11g.73978040A>GCA475655801UCP2c.183T>C (p.Gly61=)
c.102T>C (p.Gly34=)
c.186T>C (p.Gly62=)
11g.73978040A>TCA475655802UCP2c.183T>A (p.Gly61=)
c.102T>A (p.Gly34=)
c.186T>A (p.Gly62=)
11g.73978041C>ACA381811900UCP2c.182G>T (p.Gly61Val)
c.101G>T (p.Gly34Val)
c.185G>T (p.Gly62Val)
11g.73978041C>GCA381811901UCP2c.182G>C (p.Gly61Ala)
c.101G>C (p.Gly34Ala)
c.185G>C (p.Gly62Ala)
11g.73978041C>TCA381811902UCP2c.182G>A (p.Gly61Asp)
c.101G>A (p.Gly34Asp)
c.185G>A (p.Gly62Asp)
 COSMIC
11g.73978042C>ACA381811903UCP2c.181G>T (p.Gly61Cys)
c.100G>T (p.Gly34Cys)
c.184G>T (p.Gly62Cys)
11g.73978042C=CA1982686297UCP2c.181G= (p.Gly61=)
c.100G= (p.Gly34=)
c.184G= (p.Gly62=)
11g.73978042C>GCA381811904UCP2c.181G>C (p.Gly61Arg)
c.100G>C (p.Gly34Arg)
c.184G>C (p.Gly62Arg)
11g.73978042C>TCA6181218UCP2c.181G>A (p.Gly61Ser)
c.100G>A (p.Gly34Ser)
c.184G>A (p.Gly62Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978043G>ACA6181219UCP2c.180C>T (p.Arg60=)
c.99C>T (p.Arg33=)
c.183C>T (p.Arg61=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978043G>CCA475655803UCP2c.180C>G (p.Arg60=)
c.99C>G (p.Arg33=)
c.183C>G (p.Arg61=)
11g.73978043G=CA1982686298UCP2c.180C= (p.Arg60=)
c.99C= (p.Arg33=)
c.183C= (p.Arg61=)
11g.73978043G>TCA475655804UCP2c.180C>A (p.Arg60=)
c.99C>A (p.Arg33=)
c.183C>A (p.Arg61=)
11g.73978044C>ACA381811906UCP2c.179G>T (p.Arg60Leu)
c.98G>T (p.Arg33Leu)
c.182G>T (p.Arg61Leu)
11g.73978044C=CA1982686299UCP2c.179G= (p.Arg60=)
c.98G= (p.Arg33=)
c.182G= (p.Arg61=)
11g.73978044C>GCA381811905UCP2c.179G>C (p.Arg60Pro)
c.98G>C (p.Arg33Pro)
c.182G>C (p.Arg61Pro)
11g.73978044C>TCA6181220UCP2c.179G>A (p.Arg60His)
c.98G>A (p.Arg33His)
c.182G>A (p.Arg61His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978045G>ACA6181221UCP2c.178C>T (p.Arg60Cys)
c.97C>T (p.Arg33Cys)
c.181C>T (p.Arg61Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978045G>CCA381811907UCP2c.178C>G (p.Arg60Gly)
c.97C>G (p.Arg33Gly)
c.181C>G (p.Arg61Gly)
 gnomAD v4
11g.73978045G=CA1982686300UCP2c.178C= (p.Arg60=)
c.97C= (p.Arg33=)
c.181C= (p.Arg61=)
11g.73978045G>TCA381811908UCP2c.178C>A (p.Arg60Ser)
c.97C>A (p.Arg33Ser)
c.181C>A (p.Arg61Ser)
11g.73978046G>ACA475655805UCP2c.177C>T (p.Tyr59=)
c.96C>T (p.Tyr32=)
c.180C>T (p.Tyr60=)
11g.73978046G>CCA381811909UCP2c.177C>G (p.Tyr59Ter)
c.96C>G (p.Tyr32Ter)
c.180C>G (p.Tyr60Ter)
11g.73978046G>TCA381811910UCP2c.177C>A (p.Tyr59Ter)
c.96C>A (p.Tyr32Ter)
c.180C>A (p.Tyr60Ter)
11g.73978047T>ACA381811911UCP2c.176A>T (p.Tyr59Phe)
c.95A>T (p.Tyr32Phe)
c.179A>T (p.Tyr60Phe)
11g.73978047T>CCA381811913UCP2c.176A>G (p.Tyr59Cys)
c.95A>G (p.Tyr32Cys)
c.179A>G (p.Tyr60Cys)
11g.73978047T>GCA381811912UCP2c.176A>C (p.Tyr59Ser)
c.95A>C (p.Tyr32Ser)
c.179A>C (p.Tyr60Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.73978047T=CA1982686301UCP2c.176A= (p.Tyr59=)
c.95A= (p.Tyr32=)
c.179A= (p.Tyr60=)
11g.73978048A=CA1982686302UCP2c.175T= (p.Tyr59=)
c.94T= (p.Tyr32=)
c.178T= (p.Tyr60=)
11g.73978048A>CCA381811914UCP2c.175T>G (p.Tyr59Asp)
c.94T>G (p.Tyr32Asp)
c.178T>G (p.Tyr60Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.73978048A>GCA381811915UCP2c.175T>C (p.Tyr59His)
c.94T>C (p.Tyr32His)
c.178T>C (p.Tyr60His)
11g.73978048A>TCA381811916UCP2c.175T>A (p.Tyr59Asn)
c.94T>A (p.Tyr32Asn)
c.178T>A (p.Tyr60Asn)
11g.73978049C>ACA381811917UCP2c.174G>T (p.Gln58His)
c.93G>T (p.Gln31His)
c.177G>T (p.Gln59His)
11g.73978049C>GCA381811918UCP2c.174G>C (p.Gln58His)
c.93G>C (p.Gln31His)
c.177G>C (p.Gln59His)
11g.73978049C>TCA475655806UCP2c.174G>A (p.Gln58=)
c.93G>A (p.Gln31=)
c.177G>A (p.Gln59=)
11g.73978050T>ACA381811919UCP2c.173A>T (p.Gln58Leu)
c.92A>T (p.Gln31Leu)
c.176A>T (p.Gln59Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.73978050T>CCA381811920UCP2c.173A>G (p.Gln58Arg)
c.92A>G (p.Gln31Arg)
c.176A>G (p.Gln59Arg)
11g.73978050T>GCA381811921UCP2c.173A>C (p.Gln58Pro)
c.92A>C (p.Gln31Pro)
c.176A>C (p.Gln59Pro)
 gnomAD v4
11g.73978050T=CA1982686303UCP2c.173A= (p.Gln58=)
c.92A= (p.Gln31=)
c.176A= (p.Gln59=)
11g.73978051G>ACA381811922UCP2c.172C>T (p.Gln58Ter)
c.91C>T (p.Gln31Ter)
c.175C>T (p.Gln59Ter)
11g.73978051G>CCA381811923UCP2c.172C>G (p.Gln58Glu)
c.91C>G (p.Gln31Glu)
c.175C>G (p.Gln59Glu)
11g.73978051G>TCA381811924UCP2c.172C>A (p.Gln58Lys)
c.91C>A (p.Gln31Lys)
c.175C>A (p.Gln59Lys)
 gnomAD v4
11g.73978052G>ACA475655808UCP2c.171C>T (p.Ala57=)
c.90C>T (p.Ala30=)
c.174C>T (p.Ala58=)
11g.73978052G>CCA475655809UCP2c.171C>G (p.Ala57=)
c.90C>G (p.Ala30=)
c.174C>G (p.Ala58=)
11g.73978052G>TCA475655810UCP2c.171C>A (p.Ala57=)
c.90C>A (p.Ala30=)
c.174C>A (p.Ala58=)
11g.73978053G>ACA381811925UCP2c.170C>T (p.Ala57Val)
c.89C>T (p.Ala30Val)
c.173C>T (p.Ala58Val)
 dbSNP
11g.73978053G>CCA381811927UCP2c.170C>G (p.Ala57Gly)
c.89C>G (p.Ala30Gly)
c.173C>G (p.Ala58Gly)
11g.73978053G=CA1982686305UCP2c.170C= (p.Ala57=)
c.89C= (p.Ala30=)
c.173C= (p.Ala58=)
11g.73978053G>TCA381811926UCP2c.170C>A (p.Ala57Asp)
c.89C>A (p.Ala30Asp)
c.173C>A (p.Ala58Asp)
 gnomAD v4
11g.73978053_73978088delinsGCGCTGGCTGTAGCGCGCACTGGCCCCTGACTTTCTCA1982686304UCP2c.135_170delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly45=)
c.54_89delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly18=)
c.138_173delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly46=)
11g.73978054C>ACA381811928UCP2c.169G>T (p.Ala57Ser)
c.88G>T (p.Ala30Ser)
c.172G>T (p.Ala58Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.73978054C=CA1982686306UCP2c.169G= (p.Ala57=)
c.88G= (p.Ala30=)
c.172G= (p.Ala58=)
11g.73978054C>GCA381811929UCP2c.169G>C (p.Ala57Pro)
c.88G>C (p.Ala30Pro)
c.172G>C (p.Ala58Pro)
11g.73978054C>TCA6181222UCP2c.169G>A (p.Ala57Thr)
c.88G>A (p.Ala30Thr)
c.172G>A (p.Ala58Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978055_73978089delCA600245085UCP2c.135_169del (p.Glu46ProfsTer16)
c.54_88del (p.Glu19ProfsTer16)
c.138_172del (p.Glu47ProfsTer16)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978055G>ACA475655811UCP2c.168C>T (p.Ser56=)
c.87C>T (p.Ser29=)
c.171C>T (p.Ser57=)
 dbSNP gnomAD v3 gnomAD v4
11g.73978055G>CCA381811930UCP2c.168C>G (p.Ser56Arg)
c.87C>G (p.Ser29Arg)
c.171C>G (p.Ser57Arg)
11g.73978055G=CA1982686307UCP2c.168C= (p.Ser56=)
c.87C= (p.Ser29=)
c.171C= (p.Ser57=)
11g.73978055G>TCA381811931UCP2c.168C>A (p.Ser56Arg)
c.87C>A (p.Ser29Arg)
c.171C>A (p.Ser57Arg)
11g.73978056C>ACA381811932UCP2c.167G>T (p.Ser56Ile)
c.86G>T (p.Ser29Ile)
c.170G>T (p.Ser57Ile)
11g.73978056C=CA1982686308UCP2c.167G= (p.Ser56=)
c.86G= (p.Ser29=)
c.170G= (p.Ser57=)
11g.73978056C>GCA381811933UCP2c.167G>C (p.Ser56Thr)
c.86G>C (p.Ser29Thr)
c.170G>C (p.Ser57Thr)
11g.73978056C>TCA6181223UCP2c.167G>A (p.Ser56Asn)
c.86G>A (p.Ser29Asn)
c.170G>A (p.Ser57Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.73978057T>ACA381811934UCP2c.166A>T (p.Ser56Cys)
c.85A>T (p.Ser29Cys)
c.169A>T (p.Ser57Cys)
11g.73978057T>CCA381811935UCP2c.166A>G (p.Ser56Gly)
c.85A>G (p.Ser29Gly)
c.169A>G (p.Ser57Gly)
11g.73978057T>GCA224505762UCP2c.166A>C (p.Ser56Arg)
c.85A>C (p.Ser29Arg)
c.169A>C (p.Ser57Arg)
 dbSNP
11g.73978057T=CA1982686309UCP2c.166A= (p.Ser56=)
c.85A= (p.Ser29=)
c.169A= (p.Ser57=)
11g.73978058G>ACA475655812UCP2c.165C>T (p.Ala55=)
c.84C>T (p.Ala28=)
c.168C>T (p.Ala56=)
 dbSNP
11g.73978058G>CCA224505765UCP2c.165C>G (p.Ala55=)
c.84C>G (p.Ala28=)
c.168C>G (p.Ala56=)
 dbSNP gnomAD v2 gnomAD v4
11g.73978058G=CA1982686310UCP2c.165C= (p.Ala55=)
c.84C= (p.Ala28=)
c.168C= (p.Ala56=)
11g.73978058G>TCA475655813UCP2c.165C>A (p.Ala55=)
c.84C>A (p.Ala28=)
c.168C>A (p.Ala56=)
11g.73978059G>ACA155899UCP2c.164C>T (p.Ala55Val)
c.83C>T (p.Ala28Val)
c.167C>T (p.Ala56Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978059G>CCA381811937UCP2c.164C>G (p.Ala55Gly)
c.83C>G (p.Ala28Gly)
c.167C>G (p.Ala56Gly)
 gnomAD v4
11g.73978059G=CA1982686311UCP2c.164C= (p.Ala55=)
c.83C= (p.Ala28=)
c.167C= (p.Ala56=)
11g.73978059G>TCA381811936UCP2c.164C>A (p.Ala55Asp)
c.83C>A (p.Ala28Asp)
c.167C>A (p.Ala56Asp)

Number of alleles fetched