Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.139379682delCA2675524431SLC23A1c.924del (p.Cys309ValfsTer8)
c.936del (p.Cys313ValfsTer8)
c.164+277del
n.535del
c.1044del (p.Cys349ValfsTer8)
c.1032del (p.Cys345ValfsTer8)
c.825del (p.Cys276ValfsTer8)
c.729del (p.Cys244ValfsTer8)
c.609del (p.Cys204ValfsTer8)
c.219del (p.Cys74ValfsTer8)
 gnomAD v4
5g.139379680G>ACA361139414SLC23A1c.923C>T (p.Pro308Leu)
c.935C>T (p.Pro312Leu)
c.164+276C>T
n.534C>T
c.1043C>T (p.Pro348Leu)
c.1031C>T (p.Pro344Leu)
c.824C>T (p.Pro275Leu)
c.728C>T (p.Pro243Leu)
c.608C>T (p.Pro203Leu)
c.218C>T (p.Pro73Leu)
 gnomAD v4
5g.139379680G>CCA361139415SLC23A1c.923C>G (p.Pro308Arg)
c.935C>G (p.Pro312Arg)
c.164+276C>G
n.534C>G
c.1043C>G (p.Pro348Arg)
c.1031C>G (p.Pro344Arg)
c.824C>G (p.Pro275Arg)
c.728C>G (p.Pro243Arg)
c.608C>G (p.Pro203Arg)
c.218C>G (p.Pro73Arg)
5g.139379680G=CA1586303579SLC23A1c.923C= (p.Pro308=)
c.935C= (p.Pro312=)
c.164+276C=
n.534C=
c.1043C= (p.Pro348=)
c.1031C= (p.Pro344=)
c.824C= (p.Pro275=)
c.728C= (p.Pro243=)
c.608C= (p.Pro203=)
c.218C= (p.Pro73=)
5g.139379680G>TCA361139416SLC23A1c.923C>A (p.Pro308His)
c.935C>A (p.Pro312His)
c.164+276C>A
n.534C>A
c.1043C>A (p.Pro348His)
c.1031C>A (p.Pro344His)
c.824C>A (p.Pro275His)
c.728C>A (p.Pro243His)
c.608C>A (p.Pro203His)
c.218C>A (p.Pro73His)
 dbSNP gnomAD v2 gnomAD v4
5g.139379681G>ACA3434022SLC23A1c.922C>T (p.Pro308Ser)
c.934C>T (p.Pro312Ser)
c.164+275C>T
n.533C>T
c.1042C>T (p.Pro348Ser)
c.1030C>T (p.Pro344Ser)
c.823C>T (p.Pro275Ser)
c.727C>T (p.Pro243Ser)
c.607C>T (p.Pro203Ser)
c.217C>T (p.Pro73Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379681G>CCA361139417SLC23A1c.922C>G (p.Pro308Ala)
c.934C>G (p.Pro312Ala)
c.164+275C>G
n.533C>G
c.1042C>G (p.Pro348Ala)
c.1030C>G (p.Pro344Ala)
c.823C>G (p.Pro275Ala)
c.727C>G (p.Pro243Ala)
c.607C>G (p.Pro203Ala)
c.217C>G (p.Pro73Ala)
 gnomAD v4
5g.139379681G=CA1586303582SLC23A1c.922C= (p.Pro308=)
c.934C= (p.Pro312=)
c.164+275C=
n.533C=
c.1042C= (p.Pro348=)
c.1030C= (p.Pro344=)
c.823C= (p.Pro275=)
c.727C= (p.Pro243=)
c.607C= (p.Pro203=)
c.217C= (p.Pro73=)
5g.139379681G>TCA361139418SLC23A1c.922C>A (p.Pro308Thr)
c.934C>A (p.Pro312Thr)
c.164+275C>A
n.533C>A
c.1042C>A (p.Pro348Thr)
c.1030C>A (p.Pro344Thr)
c.823C>A (p.Pro275Thr)
c.727C>A (p.Pro243Thr)
c.607C>A (p.Pro203Thr)
c.217C>A (p.Pro73Thr)
5g.139379682G>ACA446793876SLC23A1c.921C>T (p.Tyr307=)
c.933C>T (p.Tyr311=)
c.164+274C>T
n.532C>T
c.1041C>T (p.Tyr347=)
c.1029C>T (p.Tyr343=)
c.822C>T (p.Tyr274=)
c.726C>T (p.Tyr242=)
c.606C>T (p.Tyr202=)
c.216C>T (p.Tyr72=)
 dbSNP gnomAD v2 gnomAD v4
5g.139379682G>CCA361139419SLC23A1c.921C>G (p.Tyr307Ter)
c.933C>G (p.Tyr311Ter)
c.164+274C>G
n.532C>G
c.1041C>G (p.Tyr347Ter)
c.1029C>G (p.Tyr343Ter)
c.822C>G (p.Tyr274Ter)
c.726C>G (p.Tyr242Ter)
c.606C>G (p.Tyr202Ter)
c.216C>G (p.Tyr72Ter)
5g.139379682G=CA1586303585SLC23A1c.921C= (p.Tyr307=)
c.933C= (p.Tyr311=)
c.164+274C=
n.532C=
c.1041C= (p.Tyr347=)
c.1029C= (p.Tyr343=)
c.822C= (p.Tyr274=)
c.726C= (p.Tyr242=)
c.606C= (p.Tyr202=)
c.216C= (p.Tyr72=)
5g.139379682G>TCA361139420SLC23A1c.921C>A (p.Tyr307Ter)
c.933C>A (p.Tyr311Ter)
c.164+274C>A
n.532C>A
c.1041C>A (p.Tyr347Ter)
c.1029C>A (p.Tyr343Ter)
c.822C>A (p.Tyr274Ter)
c.726C>A (p.Tyr242Ter)
c.606C>A (p.Tyr202Ter)
c.216C>A (p.Tyr72Ter)
 gnomAD v4
5g.139379683T>ACA361139421SLC23A1c.920A>T (p.Tyr307Phe)
c.932A>T (p.Tyr311Phe)
c.164+273A>T
n.531A>T
c.1040A>T (p.Tyr347Phe)
c.1028A>T (p.Tyr343Phe)
c.821A>T (p.Tyr274Phe)
c.725A>T (p.Tyr242Phe)
c.605A>T (p.Tyr202Phe)
c.215A>T (p.Tyr72Phe)
5g.139379683T>CCA361139422SLC23A1c.920A>G (p.Tyr307Cys)
c.932A>G (p.Tyr311Cys)
c.164+273A>G
n.531A>G
c.1040A>G (p.Tyr347Cys)
c.1028A>G (p.Tyr343Cys)
c.821A>G (p.Tyr274Cys)
c.725A>G (p.Tyr242Cys)
c.605A>G (p.Tyr202Cys)
c.215A>G (p.Tyr72Cys)
 dbSNP gnomAD v3 gnomAD v4
5g.139379683T>GCA361139423SLC23A1c.920A>C (p.Tyr307Ser)
c.932A>C (p.Tyr311Ser)
c.164+273A>C
n.531A>C
c.1040A>C (p.Tyr347Ser)
c.1028A>C (p.Tyr343Ser)
c.821A>C (p.Tyr274Ser)
c.725A>C (p.Tyr242Ser)
c.605A>C (p.Tyr202Ser)
c.215A>C (p.Tyr72Ser)
5g.139379683T=CA1586303587SLC23A1c.920A= (p.Tyr307=)
c.932A= (p.Tyr311=)
c.164+273A=
n.531A=
c.1040A= (p.Tyr347=)
c.1028A= (p.Tyr343=)
c.821A= (p.Tyr274=)
c.725A= (p.Tyr242=)
c.605A= (p.Tyr202=)
c.215A= (p.Tyr72=)
5g.139379684A>CCA361139424SLC23A1c.919T>G (p.Tyr307Asp)
c.931T>G (p.Tyr311Asp)
c.164+272T>G
n.530T>G
c.1039T>G (p.Tyr347Asp)
c.1027T>G (p.Tyr343Asp)
c.820T>G (p.Tyr274Asp)
c.724T>G (p.Tyr242Asp)
c.604T>G (p.Tyr202Asp)
c.214T>G (p.Tyr72Asp)
5g.139379684A>GCA361139425SLC23A1c.919T>C (p.Tyr307His)
c.931T>C (p.Tyr311His)
c.164+272T>C
n.530T>C
c.1039T>C (p.Tyr347His)
c.1027T>C (p.Tyr343His)
c.820T>C (p.Tyr274His)
c.724T>C (p.Tyr242His)
c.604T>C (p.Tyr202His)
c.214T>C (p.Tyr72His)
5g.139379684A>TCA361139426SLC23A1c.919T>A (p.Tyr307Asn)
c.931T>A (p.Tyr311Asn)
c.164+272T>A
n.530T>A
c.1039T>A (p.Tyr347Asn)
c.1027T>A (p.Tyr343Asn)
c.820T>A (p.Tyr274Asn)
c.724T>A (p.Tyr242Asn)
c.604T>A (p.Tyr202Asn)
c.214T>A (p.Tyr72Asn)
5g.139379685G>ACA128242258SLC23A1c.918C>T (p.Pro306=)
c.930C>T (p.Pro310=)
c.164+271C>T
n.529C>T
c.1038C>T (p.Pro346=)
c.1026C>T (p.Pro342=)
c.819C>T (p.Pro273=)
c.723C>T (p.Pro241=)
c.603C>T (p.Pro201=)
c.213C>T (p.Pro71=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379685G>CCA446793883SLC23A1c.918C>G (p.Pro306=)
c.930C>G (p.Pro310=)
c.164+271C>G
n.529C>G
c.1038C>G (p.Pro346=)
c.1026C>G (p.Pro342=)
c.819C>G (p.Pro273=)
c.723C>G (p.Pro241=)
c.603C>G (p.Pro201=)
c.213C>G (p.Pro71=)
5g.139379685G=CA1586303589SLC23A1c.918C= (p.Pro306=)
c.930C= (p.Pro310=)
c.164+271C=
n.529C=
c.1038C= (p.Pro346=)
c.1026C= (p.Pro342=)
c.819C= (p.Pro273=)
c.723C= (p.Pro241=)
c.603C= (p.Pro201=)
c.213C= (p.Pro71=)
5g.139379685G>TCA446793880SLC23A1c.918C>A (p.Pro306=)
c.930C>A (p.Pro310=)
c.164+271C>A
n.529C>A
c.1038C>A (p.Pro346=)
c.1026C>A (p.Pro342=)
c.819C>A (p.Pro273=)
c.723C>A (p.Pro241=)
c.603C>A (p.Pro201=)
c.213C>A (p.Pro71=)
5g.139379686G>ACA361139427SLC23A1c.917C>T (p.Pro306Leu)
c.929C>T (p.Pro310Leu)
c.164+270C>T
n.528C>T
c.1037C>T (p.Pro346Leu)
c.1025C>T (p.Pro342Leu)
c.818C>T (p.Pro273Leu)
c.722C>T (p.Pro241Leu)
c.602C>T (p.Pro201Leu)
c.212C>T (p.Pro71Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.139379686G>CCA361139428SLC23A1c.917C>G (p.Pro306Arg)
c.929C>G (p.Pro310Arg)
c.164+270C>G
n.528C>G
c.1037C>G (p.Pro346Arg)
c.1025C>G (p.Pro342Arg)
c.818C>G (p.Pro273Arg)
c.722C>G (p.Pro241Arg)
c.602C>G (p.Pro201Arg)
c.212C>G (p.Pro71Arg)
5g.139379686G=CA1586303594SLC23A1c.917C= (p.Pro306=)
c.929C= (p.Pro310=)
c.164+270C=
n.528C=
c.1037C= (p.Pro346=)
c.1025C= (p.Pro342=)
c.818C= (p.Pro273=)
c.722C= (p.Pro241=)
c.602C= (p.Pro201=)
c.212C= (p.Pro71=)
5g.139379686G>TCA361139429SLC23A1c.917C>A (p.Pro306His)
c.929C>A (p.Pro310His)
c.164+270C>A
n.528C>A
c.1037C>A (p.Pro346His)
c.1025C>A (p.Pro342His)
c.818C>A (p.Pro273His)
c.722C>A (p.Pro241His)
c.602C>A (p.Pro201His)
c.212C>A (p.Pro71His)
5g.139379687G>ACA3434023SLC23A1c.916C>T (p.Pro306Ser)
c.928C>T (p.Pro310Ser)
c.164+269C>T
n.527C>T
c.1036C>T (p.Pro346Ser)
c.1024C>T (p.Pro342Ser)
c.817C>T (p.Pro273Ser)
c.721C>T (p.Pro241Ser)
c.601C>T (p.Pro201Ser)
c.211C>T (p.Pro71Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379687G>CCA361139430SLC23A1c.916C>G (p.Pro306Ala)
c.928C>G (p.Pro310Ala)
c.164+269C>G
n.527C>G
c.1036C>G (p.Pro346Ala)
c.1024C>G (p.Pro342Ala)
c.817C>G (p.Pro273Ala)
c.721C>G (p.Pro241Ala)
c.601C>G (p.Pro201Ala)
c.211C>G (p.Pro71Ala)
5g.139379687G=CA1586303596SLC23A1c.916C= (p.Pro306=)
c.928C= (p.Pro310=)
c.164+269C=
n.527C=
c.1036C= (p.Pro346=)
c.1024C= (p.Pro342=)
c.817C= (p.Pro273=)
c.721C= (p.Pro241=)
c.601C= (p.Pro201=)
c.211C= (p.Pro71=)
5g.139379687G>TCA361139431SLC23A1c.916C>A (p.Pro306Thr)
c.928C>A (p.Pro310Thr)
c.164+269C>A
n.527C>A
c.1036C>A (p.Pro346Thr)
c.1024C>A (p.Pro342Thr)
c.817C>A (p.Pro273Thr)
c.721C>A (p.Pro241Thr)
c.601C>A (p.Pro201Thr)
c.211C>A (p.Pro71Thr)
5g.139379688G>ACA446793889SLC23A1c.915C>T (p.Ile305=)
c.927C>T (p.Ile309=)
c.164+268C>T
n.526C>T
c.1035C>T (p.Ile345=)
c.1023C>T (p.Ile341=)
c.816C>T (p.Ile272=)
c.720C>T (p.Ile240=)
c.600C>T (p.Ile200=)
c.210C>T (p.Ile70=)
5g.139379688G>CCA361139432SLC23A1c.915C>G (p.Ile305Met)
c.927C>G (p.Ile309Met)
c.164+268C>G
n.526C>G
c.1035C>G (p.Ile345Met)
c.1023C>G (p.Ile341Met)
c.816C>G (p.Ile272Met)
c.720C>G (p.Ile240Met)
c.600C>G (p.Ile200Met)
c.210C>G (p.Ile70Met)
 dbSNP gnomAD v3 gnomAD v4
5g.139379688G=CA1586303598SLC23A1c.915C= (p.Ile305=)
c.927C= (p.Ile309=)
c.164+268C=
n.526C=
c.1035C= (p.Ile345=)
c.1023C= (p.Ile341=)
c.816C= (p.Ile272=)
c.720C= (p.Ile240=)
c.600C= (p.Ile200=)
c.210C= (p.Ile70=)
5g.139379688G>TCA446793890SLC23A1c.915C>A (p.Ile305=)
c.927C>A (p.Ile309=)
c.164+268C>A
n.526C>A
c.1035C>A (p.Ile345=)
c.1023C>A (p.Ile341=)
c.816C>A (p.Ile272=)
c.720C>A (p.Ile240=)
c.600C>A (p.Ile200=)
c.210C>A (p.Ile70=)
5g.139379689A=CA1586303600SLC23A1c.914T= (p.Ile305=)
c.926T= (p.Ile309=)
c.164+267T=
n.525T=
c.1034T= (p.Ile345=)
c.1022T= (p.Ile341=)
c.815T= (p.Ile272=)
c.719T= (p.Ile240=)
c.599T= (p.Ile200=)
c.209T= (p.Ile70=)
5g.139379689A>CCA361139433SLC23A1c.914T>G (p.Ile305Ser)
c.926T>G (p.Ile309Ser)
c.164+267T>G
n.525T>G
c.1034T>G (p.Ile345Ser)
c.1022T>G (p.Ile341Ser)
c.815T>G (p.Ile272Ser)
c.719T>G (p.Ile240Ser)
c.599T>G (p.Ile200Ser)
c.209T>G (p.Ile70Ser)
5g.139379689A>GCA3434024SLC23A1c.914T>C (p.Ile305Thr)
c.926T>C (p.Ile309Thr)
c.164+267T>C
n.525T>C
c.1034T>C (p.Ile345Thr)
c.1022T>C (p.Ile341Thr)
c.815T>C (p.Ile272Thr)
c.719T>C (p.Ile240Thr)
c.599T>C (p.Ile200Thr)
c.209T>C (p.Ile70Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379689A>TCA361139434SLC23A1c.914T>A (p.Ile305Asn)
c.926T>A (p.Ile309Asn)
c.164+267T>A
n.525T>A
c.1034T>A (p.Ile345Asn)
c.1022T>A (p.Ile341Asn)
c.815T>A (p.Ile272Asn)
c.719T>A (p.Ile240Asn)
c.599T>A (p.Ile200Asn)
c.209T>A (p.Ile70Asn)
5g.139379690T>ACA361139435SLC23A1c.913A>T (p.Ile305Phe)
c.925A>T (p.Ile309Phe)
c.164+266A>T
n.524A>T
c.1033A>T (p.Ile345Phe)
c.1021A>T (p.Ile341Phe)
c.814A>T (p.Ile272Phe)
c.718A>T (p.Ile240Phe)
c.598A>T (p.Ile200Phe)
c.208A>T (p.Ile70Phe)
5g.139379690T>CCA361139436SLC23A1c.913A>G (p.Ile305Val)
c.925A>G (p.Ile309Val)
c.164+266A>G
n.524A>G
c.1033A>G (p.Ile345Val)
c.1021A>G (p.Ile341Val)
c.814A>G (p.Ile272Val)
c.718A>G (p.Ile240Val)
c.598A>G (p.Ile200Val)
c.208A>G (p.Ile70Val)
5g.139379690T>GCA361139438SLC23A1c.913A>C (p.Ile305Leu)
c.925A>C (p.Ile309Leu)
c.164+266A>C
n.524A>C
c.1033A>C (p.Ile345Leu)
c.1021A>C (p.Ile341Leu)
c.814A>C (p.Ile272Leu)
c.718A>C (p.Ile240Leu)
c.598A>C (p.Ile200Leu)
c.208A>C (p.Ile70Leu)
5g.139379691G>ACA446793893SLC23A1c.912C>T (p.Arg304=)
c.924C>T (p.Arg308=)
c.164+265C>T
n.523C>T
c.1032C>T (p.Arg344=)
c.1020C>T (p.Arg340=)
c.813C>T (p.Arg271=)
c.717C>T (p.Arg239=)
c.597C>T (p.Arg199=)
c.207C>T (p.Arg69=)
 gnomAD v4
5g.139379691G>CCA446793894SLC23A1c.912C>G (p.Arg304=)
c.924C>G (p.Arg308=)
c.164+265C>G
n.523C>G
c.1032C>G (p.Arg344=)
c.1020C>G (p.Arg340=)
c.813C>G (p.Arg271=)
c.717C>G (p.Arg239=)
c.597C>G (p.Arg199=)
c.207C>G (p.Arg69=)
5g.139379691G>TCA446793895SLC23A1c.912C>A (p.Arg304=)
c.924C>A (p.Arg308=)
c.164+265C>A
n.523C>A
c.1032C>A (p.Arg344=)
c.1020C>A (p.Arg340=)
c.813C>A (p.Arg271=)
c.717C>A (p.Arg239=)
c.597C>A (p.Arg199=)
c.207C>A (p.Arg69=)
5g.139379692C>ACA361139439SLC23A1c.911G>T (p.Arg304Leu)
c.923G>T (p.Arg308Leu)
c.164+264G>T
n.522G>T
c.1031G>T (p.Arg344Leu)
c.1019G>T (p.Arg340Leu)
c.812G>T (p.Arg271Leu)
c.716G>T (p.Arg239Leu)
c.596G>T (p.Arg199Leu)
c.206G>T (p.Arg69Leu)
5g.139379692C=CA1586303602SLC23A1c.911G= (p.Arg304=)
c.923G= (p.Arg308=)
c.164+264G=
n.522G=
c.1031G= (p.Arg344=)
c.1019G= (p.Arg340=)
c.812G= (p.Arg271=)
c.716G= (p.Arg239=)
c.596G= (p.Arg199=)
c.206G= (p.Arg69=)
5g.139379692C>GCA361139440SLC23A1c.911G>C (p.Arg304Pro)
c.923G>C (p.Arg308Pro)
c.164+264G>C
n.522G>C
c.1031G>C (p.Arg344Pro)
c.1019G>C (p.Arg340Pro)
c.812G>C (p.Arg271Pro)
c.716G>C (p.Arg239Pro)
c.596G>C (p.Arg199Pro)
c.206G>C (p.Arg69Pro)
5g.139379692C>TCA128242281SLC23A1c.911G>A (p.Arg304His)
c.923G>A (p.Arg308His)
c.164+264G>A
n.522G>A
c.1031G>A (p.Arg344His)
c.1019G>A (p.Arg340His)
c.812G>A (p.Arg271His)
c.716G>A (p.Arg239His)
c.596G>A (p.Arg199His)
c.206G>A (p.Arg69His)
 dbSNP gnomAD v2 gnomAD v4
5g.139379693G>ACA361139441SLC23A1c.910C>T (p.Arg304Cys)
c.922C>T (p.Arg308Cys)
c.164+263C>T
n.521C>T
c.1030C>T (p.Arg344Cys)
c.1018C>T (p.Arg340Cys)
c.811C>T (p.Arg271Cys)
c.715C>T (p.Arg239Cys)
c.595C>T (p.Arg199Cys)
c.205C>T (p.Arg69Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379693G>CCA361139442SLC23A1c.910C>G (p.Arg304Gly)
c.922C>G (p.Arg308Gly)
c.164+263C>G
n.521C>G
c.1030C>G (p.Arg344Gly)
c.1018C>G (p.Arg340Gly)
c.811C>G (p.Arg271Gly)
c.715C>G (p.Arg239Gly)
c.595C>G (p.Arg199Gly)
c.205C>G (p.Arg69Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.139379693G=CA1586303606SLC23A1c.910C= (p.Arg304=)
c.922C= (p.Arg308=)
c.164+263C=
n.521C=
c.1030C= (p.Arg344=)
c.1018C= (p.Arg340=)
c.811C= (p.Arg271=)
c.715C= (p.Arg239=)
c.595C= (p.Arg199=)
c.205C= (p.Arg69=)
5g.139379693G>TCA361139443SLC23A1c.910C>A (p.Arg304Ser)
c.922C>A (p.Arg308Ser)
c.164+263C>A
n.521C>A
c.1030C>A (p.Arg344Ser)
c.1018C>A (p.Arg340Ser)
c.811C>A (p.Arg271Ser)
c.715C>A (p.Arg239Ser)
c.595C>A (p.Arg199Ser)
c.205C>A (p.Arg69Ser)
5g.139379694G>ACA446793899SLC23A1c.909C>T (p.Ile303=)
c.921C>T (p.Ile307=)
c.164+262C>T
n.520C>T
c.1029C>T (p.Ile343=)
c.1017C>T (p.Ile339=)
c.810C>T (p.Ile270=)
c.714C>T (p.Ile238=)
c.594C>T (p.Ile198=)
c.204C>T (p.Ile68=)
 dbSNP gnomAD v2 gnomAD v4
5g.139379694G>CCA361139444SLC23A1c.909C>G (p.Ile303Met)
c.921C>G (p.Ile307Met)
c.164+262C>G
n.520C>G
c.1029C>G (p.Ile343Met)
c.1017C>G (p.Ile339Met)
c.810C>G (p.Ile270Met)
c.714C>G (p.Ile238Met)
c.594C>G (p.Ile198Met)
c.204C>G (p.Ile68Met)
5g.139379694G=CA1586303610SLC23A1c.909C= (p.Ile303=)
c.921C= (p.Ile307=)
c.164+262C=
n.520C=
c.1029C= (p.Ile343=)
c.1017C= (p.Ile339=)
c.810C= (p.Ile270=)
c.714C= (p.Ile238=)
c.594C= (p.Ile198=)
c.204C= (p.Ile68=)
5g.139379694G>TCA446793901SLC23A1c.909C>A (p.Ile303=)
c.921C>A (p.Ile307=)
c.164+262C>A
n.520C>A
c.1029C>A (p.Ile343=)
c.1017C>A (p.Ile339=)
c.810C>A (p.Ile270=)
c.714C>A (p.Ile238=)
c.594C>A (p.Ile198=)
c.204C>A (p.Ile68=)
5g.139379695A=CA1586303612SLC23A1c.908T= (p.Ile303=)
c.920T= (p.Ile307=)
c.164+261T=
n.519T=
c.1028T= (p.Ile343=)
c.1016T= (p.Ile339=)
c.809T= (p.Ile270=)
c.713T= (p.Ile238=)
c.593T= (p.Ile198=)
c.203T= (p.Ile68=)
5g.139379695A>CCA361139445SLC23A1c.908T>G (p.Ile303Ser)
c.920T>G (p.Ile307Ser)
c.164+261T>G
n.519T>G
c.1028T>G (p.Ile343Ser)
c.1016T>G (p.Ile339Ser)
c.809T>G (p.Ile270Ser)
c.713T>G (p.Ile238Ser)
c.593T>G (p.Ile198Ser)
c.203T>G (p.Ile68Ser)
5g.139379695A>GCA361139446SLC23A1c.908T>C (p.Ile303Thr)
c.920T>C (p.Ile307Thr)
c.164+261T>C
n.519T>C
c.1028T>C (p.Ile343Thr)
c.1016T>C (p.Ile339Thr)
c.809T>C (p.Ile270Thr)
c.713T>C (p.Ile238Thr)
c.593T>C (p.Ile198Thr)
c.203T>C (p.Ile68Thr)
5g.139379695A>TCA3434025SLC23A1c.908T>A (p.Ile303Asn)
c.920T>A (p.Ile307Asn)
c.164+261T>A
n.519T>A
c.1028T>A (p.Ile343Asn)
c.1016T>A (p.Ile339Asn)
c.809T>A (p.Ile270Asn)
c.713T>A (p.Ile238Asn)
c.593T>A (p.Ile198Asn)
c.203T>A (p.Ile68Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379696T>ACA361139454SLC23A1c.907A>T (p.Ile303Phe)
c.919A>T (p.Ile307Phe)
c.164+260A>T
n.518A>T
c.1027A>T (p.Ile343Phe)
c.1015A>T (p.Ile339Phe)
c.808A>T (p.Ile270Phe)
c.712A>T (p.Ile238Phe)
c.592A>T (p.Ile198Phe)
c.202A>T (p.Ile68Phe)
5g.139379696T>CCA361139450SLC23A1c.907A>G (p.Ile303Val)
c.919A>G (p.Ile307Val)
c.164+260A>G
n.518A>G
c.1027A>G (p.Ile343Val)
c.1015A>G (p.Ile339Val)
c.808A>G (p.Ile270Val)
c.712A>G (p.Ile238Val)
c.592A>G (p.Ile198Val)
c.202A>G (p.Ile68Val)
5g.139379696T>GCA361139452SLC23A1c.907A>C (p.Ile303Leu)
c.919A>C (p.Ile307Leu)
c.164+260A>C
n.518A>C
c.1027A>C (p.Ile343Leu)
c.1015A>C (p.Ile339Leu)
c.808A>C (p.Ile270Leu)
c.712A>C (p.Ile238Leu)
c.592A>C (p.Ile198Leu)
c.202A>C (p.Ile68Leu)
5g.139379697C>ACA361139458SLC23A1c.906G>T (p.Trp302Cys)
c.918G>T (p.Trp306Cys)
c.164+259G>T
n.517G>T
c.1026G>T (p.Trp342Cys)
c.1014G>T (p.Trp338Cys)
c.807G>T (p.Trp269Cys)
c.711G>T (p.Trp237Cys)
c.591G>T (p.Trp197Cys)
c.201G>T (p.Trp67Cys)
 COSMIC
5g.139379697C>GCA361139460SLC23A1c.906G>C (p.Trp302Cys)
c.918G>C (p.Trp306Cys)
c.164+259G>C
n.517G>C
c.1026G>C (p.Trp342Cys)
c.1014G>C (p.Trp338Cys)
c.807G>C (p.Trp269Cys)
c.711G>C (p.Trp237Cys)
c.591G>C (p.Trp197Cys)
c.201G>C (p.Trp67Cys)
5g.139379697C>TCA361139461SLC23A1c.906G>A (p.Trp302Ter)
c.918G>A (p.Trp306Ter)
c.164+259G>A
n.517G>A
c.1026G>A (p.Trp342Ter)
c.1014G>A (p.Trp338Ter)
c.807G>A (p.Trp269Ter)
c.711G>A (p.Trp237Ter)
c.591G>A (p.Trp197Ter)
c.201G>A (p.Trp67Ter)
5g.139379698C>ACA361139468SLC23A1c.905G>T (p.Trp302Leu)
c.917G>T (p.Trp306Leu)
c.164+258G>T
n.516G>T
c.1025G>T (p.Trp342Leu)
c.1013G>T (p.Trp338Leu)
c.806G>T (p.Trp269Leu)
c.710G>T (p.Trp237Leu)
c.590G>T (p.Trp197Leu)
c.200G>T (p.Trp67Leu)
5g.139379698C>GCA361139466SLC23A1c.905G>C (p.Trp302Ser)
c.917G>C (p.Trp306Ser)
c.164+258G>C
n.516G>C
c.1025G>C (p.Trp342Ser)
c.1013G>C (p.Trp338Ser)
c.806G>C (p.Trp269Ser)
c.710G>C (p.Trp237Ser)
c.590G>C (p.Trp197Ser)
c.200G>C (p.Trp67Ser)
5g.139379698C>TCA361139464SLC23A1c.905G>A (p.Trp302Ter)
c.917G>A (p.Trp306Ter)
c.164+258G>A
n.516G>A
c.1025G>A (p.Trp342Ter)
c.1013G>A (p.Trp338Ter)
c.806G>A (p.Trp269Ter)
c.710G>A (p.Trp237Ter)
c.590G>A (p.Trp197Ter)
c.200G>A (p.Trp67Ter)
5g.139379699A=CA1586303615SLC23A1c.904T= (p.Trp302=)
c.916T= (p.Trp306=)
c.164+257T=
n.515T=
c.1024T= (p.Trp342=)
c.1012T= (p.Trp338=)
c.805T= (p.Trp269=)
c.709T= (p.Trp237=)
c.589T= (p.Trp197=)
c.199T= (p.Trp67=)
5g.139379699A>CCA361139471SLC23A1c.904T>G (p.Trp302Gly)
c.916T>G (p.Trp306Gly)
c.164+257T>G
n.515T>G
c.1024T>G (p.Trp342Gly)
c.1012T>G (p.Trp338Gly)
c.805T>G (p.Trp269Gly)
c.709T>G (p.Trp237Gly)
c.589T>G (p.Trp197Gly)
c.199T>G (p.Trp67Gly)
5g.139379699A>GCA361139473SLC23A1c.904T>C (p.Trp302Arg)
c.916T>C (p.Trp306Arg)
c.164+257T>C
n.515T>C
c.1024T>C (p.Trp342Arg)
c.1012T>C (p.Trp338Arg)
c.805T>C (p.Trp269Arg)
c.709T>C (p.Trp237Arg)
c.589T>C (p.Trp197Arg)
c.199T>C (p.Trp67Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.139379699A>TCA361139475SLC23A1c.904T>A (p.Trp302Arg)
c.916T>A (p.Trp306Arg)
c.164+257T>A
n.515T>A
c.1024T>A (p.Trp342Arg)
c.1012T>A (p.Trp338Arg)
c.805T>A (p.Trp269Arg)
c.709T>A (p.Trp237Arg)
c.589T>A (p.Trp197Arg)
c.199T>A (p.Trp67Arg)
5g.139379700G>ACA446793907SLC23A1c.903C>T (p.Pro301=)
c.915C>T (p.Pro305=)
c.164+256C>T
n.514C>T
c.1023C>T (p.Pro341=)
c.1011C>T (p.Pro337=)
c.804C>T (p.Pro268=)
c.708C>T (p.Pro236=)
c.588C>T (p.Pro196=)
c.198C>T (p.Pro66=)
5g.139379700G>CCA446793909SLC23A1c.903C>G (p.Pro301=)
c.915C>G (p.Pro305=)
c.164+256C>G
n.514C>G
c.1023C>G (p.Pro341=)
c.1011C>G (p.Pro337=)
c.804C>G (p.Pro268=)
c.708C>G (p.Pro236=)
c.588C>G (p.Pro196=)
c.198C>G (p.Pro66=)
5g.139379700G>TCA446793911SLC23A1c.903C>A (p.Pro301=)
c.915C>A (p.Pro305=)
c.164+256C>A
n.514C>A
c.1023C>A (p.Pro341=)
c.1011C>A (p.Pro337=)
c.804C>A (p.Pro268=)
c.708C>A (p.Pro236=)
c.588C>A (p.Pro196=)
c.198C>A (p.Pro66=)
5g.139379701G>ACA361139478SLC23A1c.902C>T (p.Pro301Leu)
c.914C>T (p.Pro305Leu)
c.164+255C>T
n.513C>T
c.1022C>T (p.Pro341Leu)
c.1010C>T (p.Pro337Leu)
c.803C>T (p.Pro268Leu)
c.707C>T (p.Pro236Leu)
c.587C>T (p.Pro196Leu)
c.197C>T (p.Pro66Leu)
5g.139379701G>CCA361139479SLC23A1c.902C>G (p.Pro301Arg)
c.914C>G (p.Pro305Arg)
c.164+255C>G
n.513C>G
c.1022C>G (p.Pro341Arg)
c.1010C>G (p.Pro337Arg)
c.803C>G (p.Pro268Arg)
c.707C>G (p.Pro236Arg)
c.587C>G (p.Pro196Arg)
c.197C>G (p.Pro66Arg)
5g.139379701G>TCA361139482SLC23A1c.902C>A (p.Pro301His)
c.914C>A (p.Pro305His)
c.164+255C>A
n.513C>A
c.1022C>A (p.Pro341His)
c.1010C>A (p.Pro337His)
c.803C>A (p.Pro268His)
c.707C>A (p.Pro236His)
c.587C>A (p.Pro196His)
c.197C>A (p.Pro66His)
5g.139379702G>ACA361139485SLC23A1c.901C>T (p.Pro301Ser)
c.913C>T (p.Pro305Ser)
c.164+254C>T
n.512C>T
c.1021C>T (p.Pro341Ser)
c.1009C>T (p.Pro337Ser)
c.802C>T (p.Pro268Ser)
c.706C>T (p.Pro236Ser)
c.586C>T (p.Pro196Ser)
c.196C>T (p.Pro66Ser)
5g.139379702G>CCA361139489SLC23A1c.901C>G (p.Pro301Ala)
c.913C>G (p.Pro305Ala)
c.164+254C>G
n.512C>G
c.1021C>G (p.Pro341Ala)
c.1009C>G (p.Pro337Ala)
c.802C>G (p.Pro268Ala)
c.706C>G (p.Pro236Ala)
c.586C>G (p.Pro196Ala)
c.196C>G (p.Pro66Ala)
5g.139379702G>TCA361139486SLC23A1c.901C>A (p.Pro301Thr)
c.913C>A (p.Pro305Thr)
c.164+254C>A
n.512C>A
c.1021C>A (p.Pro341Thr)
c.1009C>A (p.Pro337Thr)
c.802C>A (p.Pro268Thr)
c.706C>A (p.Pro236Thr)
c.586C>A (p.Pro196Thr)
c.196C>A (p.Pro66Thr)
5g.139379703T>ACA446793913SLC23A1c.900A>T (p.Ala300=)
c.912A>T (p.Ala304=)
c.164+253A>T
n.511A>T
c.1020A>T (p.Ala340=)
c.1008A>T (p.Ala336=)
c.801A>T (p.Ala267=)
c.705A>T (p.Ala235=)
c.585A>T (p.Ala195=)
c.195A>T (p.Ala65=)
5g.139379703T>CCA446793915SLC23A1c.900A>G (p.Ala300=)
c.912A>G (p.Ala304=)
c.164+253A>G
n.511A>G
c.1020A>G (p.Ala340=)
c.1008A>G (p.Ala336=)
c.801A>G (p.Ala267=)
c.705A>G (p.Ala235=)
c.585A>G (p.Ala195=)
c.195A>G (p.Ala65=)
5g.139379703T>GCA446793916SLC23A1c.900A>C (p.Ala300=)
c.912A>C (p.Ala304=)
c.164+253A>C
n.511A>C
c.1020A>C (p.Ala340=)
c.1008A>C (p.Ala336=)
c.801A>C (p.Ala267=)
c.705A>C (p.Ala235=)
c.585A>C (p.Ala195=)
c.195A>C (p.Ala65=)
5g.139379704G>ACA3434026SLC23A1c.899C>T (p.Ala300Val)
c.911C>T (p.Ala304Val)
c.164+252C>T
n.510C>T
c.1019C>T (p.Ala340Val)
c.1007C>T (p.Ala336Val)
c.800C>T (p.Ala267Val)
c.704C>T (p.Ala235Val)
c.584C>T (p.Ala195Val)
c.194C>T (p.Ala65Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139379704G>CCA361139493SLC23A1c.899C>G (p.Ala300Gly)
c.911C>G (p.Ala304Gly)
c.164+252C>G
n.510C>G
c.1019C>G (p.Ala340Gly)
c.1007C>G (p.Ala336Gly)
c.800C>G (p.Ala267Gly)
c.704C>G (p.Ala235Gly)
c.584C>G (p.Ala195Gly)
c.194C>G (p.Ala65Gly)
5g.139379704G=CA1586303618SLC23A1c.899C= (p.Ala300=)
c.911C= (p.Ala304=)
c.164+252C=
n.510C=
c.1019C= (p.Ala340=)
c.1007C= (p.Ala336=)
c.800C= (p.Ala267=)
c.704C= (p.Ala235=)
c.584C= (p.Ala195=)
c.194C= (p.Ala65=)
5g.139379704G>TCA361139495SLC23A1c.899C>A (p.Ala300Glu)
c.911C>A (p.Ala304Glu)
c.164+252C>A
n.510C>A
c.1019C>A (p.Ala340Glu)
c.1007C>A (p.Ala336Glu)
c.800C>A (p.Ala267Glu)
c.704C>A (p.Ala235Glu)
c.584C>A (p.Ala195Glu)
c.194C>A (p.Ala65Glu)
 dbSNP gnomAD v4
5g.139379705C>ACA361139498SLC23A1c.898G>T (p.Ala300Ser)
c.910G>T (p.Ala304Ser)
c.164+251G>T
n.509G>T
c.1018G>T (p.Ala340Ser)
c.1006G>T (p.Ala336Ser)
c.799G>T (p.Ala267Ser)
c.703G>T (p.Ala235Ser)
c.583G>T (p.Ala195Ser)
c.193G>T (p.Ala65Ser)
5g.139379705C=CA1586303626SLC23A1c.898G= (p.Ala300=)
c.910G= (p.Ala304=)
c.164+251G=
n.509G=
c.1018G= (p.Ala340=)
c.1006G= (p.Ala336=)
c.799G= (p.Ala267=)
c.703G= (p.Ala235=)
c.583G= (p.Ala195=)
c.193G= (p.Ala65=)
5g.139379705C>GCA361139500SLC23A1c.898G>C (p.Ala300Pro)
c.910G>C (p.Ala304Pro)
c.164+251G>C
n.509G>C
c.1018G>C (p.Ala340Pro)
c.1006G>C (p.Ala336Pro)
c.799G>C (p.Ala267Pro)
c.703G>C (p.Ala235Pro)
c.583G>C (p.Ala195Pro)
c.193G>C (p.Ala65Pro)
5g.139379705C>TCA3434027SLC23A1c.898G>A (p.Ala300Thr)
c.910G>A (p.Ala304Thr)
c.164+251G>A
n.509G>A
c.1018G>A (p.Ala340Thr)
c.1006G>A (p.Ala336Thr)
c.799G>A (p.Ala267Thr)
c.703G>A (p.Ala235Thr)
c.583G>A (p.Ala195Thr)
c.193G>A (p.Ala65Thr)
 dbSNP ExAC gnomAD v2
5g.139379706A>CCA361139504SLC23A1c.897T>G (p.Ile299Met)
c.909T>G (p.Ile303Met)
c.164+250T>G
n.508T>G
c.1017T>G (p.Ile339Met)
c.1005T>G (p.Ile335Met)
c.798T>G (p.Ile266Met)
c.702T>G (p.Ile234Met)
c.582T>G (p.Ile194Met)
c.192T>G (p.Ile64Met)
5g.139379706A>GCA446793918SLC23A1c.897T>C (p.Ile299=)
c.909T>C (p.Ile303=)
c.164+250T>C
n.508T>C
c.1017T>C (p.Ile339=)
c.1005T>C (p.Ile335=)
c.798T>C (p.Ile266=)
c.702T>C (p.Ile234=)
c.582T>C (p.Ile194=)
c.192T>C (p.Ile64=)
5g.139379706A>TCA446793920SLC23A1c.897T>A (p.Ile299=)
c.909T>A (p.Ile303=)
c.164+250T>A
n.508T>A
c.1017T>A (p.Ile339=)
c.1005T>A (p.Ile335=)
c.798T>A (p.Ile266=)
c.702T>A (p.Ile234=)
c.582T>A (p.Ile194=)
c.192T>A (p.Ile64=)
5g.139379707A=CA1586303629SLC23A1c.896T= (p.Ile299=)
c.908T= (p.Ile303=)
c.164+249T=
n.507T=
c.1016T= (p.Ile339=)
c.1004T= (p.Ile335=)
c.797T= (p.Ile266=)
c.701T= (p.Ile234=)
c.581T= (p.Ile194=)
c.191T= (p.Ile64=)
5g.139379707A>CCA361139507SLC23A1c.896T>G (p.Ile299Ser)
c.908T>G (p.Ile303Ser)
c.164+249T>G
n.507T>G
c.1016T>G (p.Ile339Ser)
c.1004T>G (p.Ile335Ser)
c.797T>G (p.Ile266Ser)
c.701T>G (p.Ile234Ser)
c.581T>G (p.Ile194Ser)
c.191T>G (p.Ile64Ser)
5g.139379707A>GCA361139509SLC23A1c.896T>C (p.Ile299Thr)
c.908T>C (p.Ile303Thr)
c.164+249T>C
n.507T>C
c.1016T>C (p.Ile339Thr)
c.1004T>C (p.Ile335Thr)
c.797T>C (p.Ile266Thr)
c.701T>C (p.Ile234Thr)
c.581T>C (p.Ile194Thr)
c.191T>C (p.Ile64Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379707A>TCA361139511SLC23A1c.896T>A (p.Ile299Asn)
c.908T>A (p.Ile303Asn)
c.164+249T>A
n.507T>A
c.1016T>A (p.Ile339Asn)
c.1004T>A (p.Ile335Asn)
c.797T>A (p.Ile266Asn)
c.701T>A (p.Ile234Asn)
c.581T>A (p.Ile194Asn)
c.191T>A (p.Ile64Asn)
5g.139379708T>ACA361139518SLC23A1c.895A>T (p.Ile299Phe)
c.907A>T (p.Ile303Phe)
c.164+248A>T
n.506A>T
c.1015A>T (p.Ile339Phe)
c.1003A>T (p.Ile335Phe)
c.796A>T (p.Ile266Phe)
c.700A>T (p.Ile234Phe)
c.580A>T (p.Ile194Phe)
c.190A>T (p.Ile64Phe)
5g.139379708T>CCA361139516SLC23A1c.895A>G (p.Ile299Val)
c.907A>G (p.Ile303Val)
c.164+248A>G
n.506A>G
c.1015A>G (p.Ile339Val)
c.1003A>G (p.Ile335Val)
c.796A>G (p.Ile266Val)
c.700A>G (p.Ile234Val)
c.580A>G (p.Ile194Val)
c.190A>G (p.Ile64Val)
5g.139379708T>GCA361139514SLC23A1c.895A>C (p.Ile299Leu)
c.907A>C (p.Ile303Leu)
c.164+248A>C
n.506A>C
c.1015A>C (p.Ile339Leu)
c.1003A>C (p.Ile335Leu)
c.796A>C (p.Ile266Leu)
c.700A>C (p.Ile234Leu)
c.580A>C (p.Ile194Leu)
c.190A>C (p.Ile64Leu)
5g.139379709A>CCA446793922SLC23A1c.894T>G (p.Ala298=)
c.906T>G (p.Ala302=)
c.164+247T>G
n.505T>G
c.1014T>G (p.Ala338=)
c.1002T>G (p.Ala334=)
c.795T>G (p.Ala265=)
c.699T>G (p.Ala233=)
c.579T>G (p.Ala193=)
c.189T>G (p.Ala63=)
5g.139379709A>GCA446793923SLC23A1c.894T>C (p.Ala298=)
c.906T>C (p.Ala302=)
c.164+247T>C
n.505T>C
c.1014T>C (p.Ala338=)
c.1002T>C (p.Ala334=)
c.795T>C (p.Ala265=)
c.699T>C (p.Ala233=)
c.579T>C (p.Ala193=)
c.189T>C (p.Ala63=)
5g.139379709A>TCA446793924SLC23A1c.894T>A (p.Ala298=)
c.906T>A (p.Ala302=)
c.164+247T>A
n.505T>A
c.1014T>A (p.Ala338=)
c.1002T>A (p.Ala334=)
c.795T>A (p.Ala265=)
c.699T>A (p.Ala233=)
c.579T>A (p.Ala193=)
c.189T>A (p.Ala63=)
5g.139379710G>ACA361139521SLC23A1c.893C>T (p.Ala298Val)
c.905C>T (p.Ala302Val)
c.164+246C>T
n.504C>T
c.1013C>T (p.Ala338Val)
c.1001C>T (p.Ala334Val)
c.794C>T (p.Ala265Val)
c.698C>T (p.Ala233Val)
c.578C>T (p.Ala193Val)
c.188C>T (p.Ala63Val)
5g.139379710G>CCA361139523SLC23A1c.893C>G (p.Ala298Gly)
c.905C>G (p.Ala302Gly)
c.164+246C>G
n.504C>G
c.1013C>G (p.Ala338Gly)
c.1001C>G (p.Ala334Gly)
c.794C>G (p.Ala265Gly)
c.698C>G (p.Ala233Gly)
c.578C>G (p.Ala193Gly)
c.188C>G (p.Ala63Gly)
 dbSNP
5g.139379710G=CA1586303631SLC23A1c.893C= (p.Ala298=)
c.905C= (p.Ala302=)
c.164+246C=
n.504C=
c.1013C= (p.Ala338=)
c.1001C= (p.Ala334=)
c.794C= (p.Ala265=)
c.698C= (p.Ala233=)
c.578C= (p.Ala193=)
c.188C= (p.Ala63=)
5g.139379710G>TCA361139525SLC23A1c.893C>A (p.Ala298Asp)
c.905C>A (p.Ala302Asp)
c.164+246C>A
n.504C>A
c.1013C>A (p.Ala338Asp)
c.1001C>A (p.Ala334Asp)
c.794C>A (p.Ala265Asp)
c.698C>A (p.Ala233Asp)
c.578C>A (p.Ala193Asp)
c.188C>A (p.Ala63Asp)
 dbSNP gnomAD v2
5g.139379711C>ACA361139528SLC23A1c.892G>T (p.Ala298Ser)
c.904G>T (p.Ala302Ser)
c.164+245G>T
n.503G>T
c.1012G>T (p.Ala338Ser)
c.1000G>T (p.Ala334Ser)
c.793G>T (p.Ala265Ser)
c.697G>T (p.Ala233Ser)
c.577G>T (p.Ala193Ser)
c.187G>T (p.Ala63Ser)
5g.139379711C=CA1586303633SLC23A1c.892G= (p.Ala298=)
c.904G= (p.Ala302=)
c.164+245G=
n.503G=
c.1012G= (p.Ala338=)
c.1000G= (p.Ala334=)
c.793G= (p.Ala265=)
c.697G= (p.Ala233=)
c.577G= (p.Ala193=)
c.187G= (p.Ala63=)
5g.139379711C>GCA361139530SLC23A1c.892G>C (p.Ala298Pro)
c.904G>C (p.Ala302Pro)
c.164+245G>C
n.503G>C
c.1012G>C (p.Ala338Pro)
c.1000G>C (p.Ala334Pro)
c.793G>C (p.Ala265Pro)
c.697G>C (p.Ala233Pro)
c.577G>C (p.Ala193Pro)
c.187G>C (p.Ala63Pro)
5g.139379711C>TCA128242319SLC23A1c.892G>A (p.Ala298Thr)
c.904G>A (p.Ala302Thr)
c.164+245G>A
n.503G>A
c.1012G>A (p.Ala338Thr)
c.1000G>A (p.Ala334Thr)
c.793G>A (p.Ala265Thr)
c.697G>A (p.Ala233Thr)
c.577G>A (p.Ala193Thr)
c.187G>A (p.Ala63Thr)
 dbSNP gnomAD v4
5g.139379712C>ACA361139535SLC23A1c.891G>T (p.Met297Ile)
c.903G>T (p.Met301Ile)
c.164+244G>T
n.502G>T
c.1011G>T (p.Met337Ile)
c.999G>T (p.Met333Ile)
c.792G>T (p.Met264Ile)
c.696G>T (p.Met232Ile)
c.576G>T (p.Met192Ile)
c.186G>T (p.Met62Ile)
5g.139379712C=CA1586303637SLC23A1c.891G= (p.Met297=)
c.903G= (p.Met301=)
c.164+244G=
n.502G=
c.1011G= (p.Met337=)
c.999G= (p.Met333=)
c.792G= (p.Met264=)
c.696G= (p.Met232=)
c.576G= (p.Met192=)
c.186G= (p.Met62=)
5g.139379712C>GCA361139537SLC23A1c.891G>C (p.Met297Ile)
c.903G>C (p.Met301Ile)
c.164+244G>C
n.502G>C
c.1011G>C (p.Met337Ile)
c.999G>C (p.Met333Ile)
c.792G>C (p.Met264Ile)
c.696G>C (p.Met232Ile)
c.576G>C (p.Met192Ile)
c.186G>C (p.Met62Ile)
 dbSNP
5g.139379712C>TCA361139539SLC23A1c.891G>A (p.Met297Ile)
c.903G>A (p.Met301Ile)
c.164+244G>A
n.502G>A
c.1011G>A (p.Met337Ile)
c.999G>A (p.Met333Ile)
c.792G>A (p.Met264Ile)
c.696G>A (p.Met232Ile)
c.576G>A (p.Met192Ile)
c.186G>A (p.Met62Ile)
5g.139379713A=CA1586303639SLC23A1c.890T= (p.Met297=)
c.902T= (p.Met301=)
c.164+243T=
n.501T=
c.1010T= (p.Met337=)
c.998T= (p.Met333=)
c.791T= (p.Met264=)
c.695T= (p.Met232=)
c.575T= (p.Met192=)
c.185T= (p.Met62=)
5g.139379713A>CCA361139542SLC23A1c.890T>G (p.Met297Arg)
c.902T>G (p.Met301Arg)
c.164+243T>G
n.501T>G
c.1010T>G (p.Met337Arg)
c.998T>G (p.Met333Arg)
c.791T>G (p.Met264Arg)
c.695T>G (p.Met232Arg)
c.575T>G (p.Met192Arg)
c.185T>G (p.Met62Arg)
5g.139379713A>GCA361139544SLC23A1c.890T>C (p.Met297Thr)
c.902T>C (p.Met301Thr)
c.164+243T>C
n.501T>C
c.1010T>C (p.Met337Thr)
c.998T>C (p.Met333Thr)
c.791T>C (p.Met264Thr)
c.695T>C (p.Met232Thr)
c.575T>C (p.Met192Thr)
c.185T>C (p.Met62Thr)
 dbSNP gnomAD v4
5g.139379713A>TCA361139545SLC23A1c.890T>A (p.Met297Lys)
c.902T>A (p.Met301Lys)
c.164+243T>A
n.501T>A
c.1010T>A (p.Met337Lys)
c.998T>A (p.Met333Lys)
c.791T>A (p.Met264Lys)
c.695T>A (p.Met232Lys)
c.575T>A (p.Met192Lys)
c.185T>A (p.Met62Lys)
5g.139379714T>ACA361139553SLC23A1c.889A>T (p.Met297Leu)
c.901A>T (p.Met301Leu)
c.164+242A>T
n.500A>T
c.1009A>T (p.Met337Leu)
c.997A>T (p.Met333Leu)
c.790A>T (p.Met264Leu)
c.694A>T (p.Met232Leu)
c.574A>T (p.Met192Leu)
c.184A>T (p.Met62Leu)
5g.139379714T>CCA361139550SLC23A1c.889A>G (p.Met297Val)
c.901A>G (p.Met301Val)
c.164+242A>G
n.500A>G
c.1009A>G (p.Met337Val)
c.997A>G (p.Met333Val)
c.790A>G (p.Met264Val)
c.694A>G (p.Met232Val)
c.574A>G (p.Met192Val)
c.184A>G (p.Met62Val)
 gnomAD v4
5g.139379714T>GCA361139549SLC23A1c.889A>C (p.Met297Leu)
c.901A>C (p.Met301Leu)
c.164+242A>C
n.500A>C
c.1009A>C (p.Met337Leu)
c.997A>C (p.Met333Leu)
c.790A>C (p.Met264Leu)
c.694A>C (p.Met232Leu)
c.574A>C (p.Met192Leu)
c.184A>C (p.Met62Leu)
5g.139379715G>ACA3434028SLC23A1c.888C>T (p.Ile296=)
c.900C>T (p.Ile300=)
c.164+241C>T
n.499C>T
c.1008C>T (p.Ile336=)
c.996C>T (p.Ile332=)
c.789C>T (p.Ile263=)
c.693C>T (p.Ile231=)
c.573C>T (p.Ile191=)
c.183C>T (p.Ile61=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.139379715G>CCA361139557SLC23A1c.888C>G (p.Ile296Met)
c.900C>G (p.Ile300Met)
c.164+241C>G
n.499C>G
c.1008C>G (p.Ile336Met)
c.996C>G (p.Ile332Met)
c.789C>G (p.Ile263Met)
c.693C>G (p.Ile231Met)
c.573C>G (p.Ile191Met)
c.183C>G (p.Ile61Met)
5g.139379715G=CA1586303643SLC23A1c.888C= (p.Ile296=)
c.900C= (p.Ile300=)
c.164+241C=
n.499C=
c.1008C= (p.Ile336=)
c.996C= (p.Ile332=)
c.789C= (p.Ile263=)
c.693C= (p.Ile231=)
c.573C= (p.Ile191=)
c.183C= (p.Ile61=)
5g.139379715G>TCA446793929SLC23A1c.888C>A (p.Ile296=)
c.900C>A (p.Ile300=)
c.164+241C>A
n.499C>A
c.1008C>A (p.Ile336=)
c.996C>A (p.Ile332=)
c.789C>A (p.Ile263=)
c.693C>A (p.Ile231=)
c.573C>A (p.Ile191=)
c.183C>A (p.Ile61=)
5g.139379716A=CA1586303648SLC23A1c.887T= (p.Ile296=)
c.899T= (p.Ile300=)
c.164+240T=
n.498T=
c.1007T= (p.Ile336=)
c.995T= (p.Ile332=)
c.788T= (p.Ile263=)
c.692T= (p.Ile231=)
c.572T= (p.Ile191=)
c.182T= (p.Ile61=)
5g.139379716A>CCA361139560SLC23A1c.887T>G (p.Ile296Ser)
c.899T>G (p.Ile300Ser)
c.164+240T>G
n.498T>G
c.1007T>G (p.Ile336Ser)
c.995T>G (p.Ile332Ser)
c.788T>G (p.Ile263Ser)
c.692T>G (p.Ile231Ser)
c.572T>G (p.Ile191Ser)
c.182T>G (p.Ile61Ser)
5g.139379716A>GCA361139562SLC23A1c.887T>C (p.Ile296Thr)
c.899T>C (p.Ile300Thr)
c.164+240T>C
n.498T>C
c.1007T>C (p.Ile336Thr)
c.995T>C (p.Ile332Thr)
c.788T>C (p.Ile263Thr)
c.692T>C (p.Ile231Thr)
c.572T>C (p.Ile191Thr)
c.182T>C (p.Ile61Thr)
5g.139379716A>TCA361139564SLC23A1c.887T>A (p.Ile296Asn)
c.899T>A (p.Ile300Asn)
c.164+240T>A
n.498T>A
c.1007T>A (p.Ile336Asn)
c.995T>A (p.Ile332Asn)
c.788T>A (p.Ile263Asn)
c.692T>A (p.Ile231Asn)
c.572T>A (p.Ile191Asn)
c.182T>A (p.Ile61Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.139379717T>ACA361139568SLC23A1c.886A>T (p.Ile296Phe)
c.898A>T (p.Ile300Phe)
c.164+239A>T
n.497A>T
c.1006A>T (p.Ile336Phe)
c.994A>T (p.Ile332Phe)
c.787A>T (p.Ile263Phe)
c.691A>T (p.Ile231Phe)
c.571A>T (p.Ile191Phe)
c.181A>T (p.Ile61Phe)
5g.139379717T>CCA361139570SLC23A1c.886A>G (p.Ile296Val)
c.898A>G (p.Ile300Val)
c.164+239A>G
n.497A>G
c.1006A>G (p.Ile336Val)
c.994A>G (p.Ile332Val)
c.787A>G (p.Ile263Val)
c.691A>G (p.Ile231Val)
c.571A>G (p.Ile191Val)
c.181A>G (p.Ile61Val)
5g.139379717T>GCA361139572SLC23A1c.886A>C (p.Ile296Leu)
c.898A>C (p.Ile300Leu)
c.164+239A>C
n.497A>C
c.1006A>C (p.Ile336Leu)
c.994A>C (p.Ile332Leu)
c.787A>C (p.Ile263Leu)
c.691A>C (p.Ile231Leu)
c.571A>C (p.Ile191Leu)
c.181A>C (p.Ile61Leu)
5g.139379718G>ACA446793930SLC23A1c.885C>T (p.Asp295=)
c.897C>T (p.Asp299=)
c.164+238C>T
n.496C>T
c.1005C>T (p.Asp335=)
c.993C>T (p.Asp331=)
c.786C>T (p.Asp262=)
c.690C>T (p.Asp230=)
c.570C>T (p.Asp190=)
c.180C>T (p.Asp60=)
5g.139379718G>CCA361139575SLC23A1c.885C>G (p.Asp295Glu)
c.897C>G (p.Asp299Glu)
c.164+238C>G
n.496C>G
c.1005C>G (p.Asp335Glu)
c.993C>G (p.Asp331Glu)
c.786C>G (p.Asp262Glu)
c.690C>G (p.Asp230Glu)
c.570C>G (p.Asp190Glu)
c.180C>G (p.Asp60Glu)
5g.139379718G>TCA361139576SLC23A1c.885C>A (p.Asp295Glu)
c.897C>A (p.Asp299Glu)
c.164+238C>A
n.496C>A
c.1005C>A (p.Asp335Glu)
c.993C>A (p.Asp331Glu)
c.786C>A (p.Asp262Glu)
c.690C>A (p.Asp230Glu)
c.570C>A (p.Asp190Glu)
c.180C>A (p.Asp60Glu)
5g.139379719T>ACA361139579SLC23A1c.884A>T (p.Asp295Val)
c.896A>T (p.Asp299Val)
c.164+237A>T
n.495A>T
c.1004A>T (p.Asp335Val)
c.992A>T (p.Asp331Val)
c.785A>T (p.Asp262Val)
c.689A>T (p.Asp230Val)
c.569A>T (p.Asp190Val)
c.179A>T (p.Asp60Val)
5g.139379719T>CCA361139581SLC23A1c.884A>G (p.Asp295Gly)
c.896A>G (p.Asp299Gly)
c.164+237A>G
n.495A>G
c.1004A>G (p.Asp335Gly)
c.992A>G (p.Asp331Gly)
c.785A>G (p.Asp262Gly)
c.689A>G (p.Asp230Gly)
c.569A>G (p.Asp190Gly)
c.179A>G (p.Asp60Gly)
5g.139379719T>GCA361139583SLC23A1c.884A>C (p.Asp295Ala)
c.896A>C (p.Asp299Ala)
c.164+237A>C
n.495A>C
c.1004A>C (p.Asp335Ala)
c.992A>C (p.Asp331Ala)
c.785A>C (p.Asp262Ala)
c.689A>C (p.Asp230Ala)
c.569A>C (p.Asp190Ala)
c.179A>C (p.Asp60Ala)
5g.139379719_139379721delinsTCACA1586303652SLC23A1c.882_884delinsTGA (p.Gly294=)
c.894_896delinsTGA (p.Gly298=)
c.164+235_164+237delinsTGA
n.493_495delinsTGA
c.1002_1004delinsTGA (p.Gly334=)
c.990_992delinsTGA (p.Gly330=)
c.783_785delinsTGA (p.Gly261=)
c.687_689delinsTGA (p.Gly229=)
c.567_569delinsTGA (p.Gly189=)
c.177_179delinsTGA (p.Gly59=)
5g.139379720C>ACA361139587SLC23A1c.883G>T (p.Asp295Tyr)
c.895G>T (p.Asp299Tyr)
c.164+236G>T
n.494G>T
c.1003G>T (p.Asp335Tyr)
c.991G>T (p.Asp331Tyr)
c.784G>T (p.Asp262Tyr)
c.688G>T (p.Asp230Tyr)
c.568G>T (p.Asp190Tyr)
c.178G>T (p.Asp60Tyr)
5g.139379720C=CA1586303657SLC23A1c.883G= (p.Asp295=)
c.895G= (p.Asp299=)
c.164+236G=
n.494G=
c.1003G= (p.Asp335=)
c.991G= (p.Asp331=)
c.784G= (p.Asp262=)
c.688G= (p.Asp230=)
c.568G= (p.Asp190=)
c.178G= (p.Asp60=)
5g.139379720C>GCA361139590SLC23A1c.883G>C (p.Asp295His)
c.895G>C (p.Asp299His)
c.164+236G>C
n.494G>C
c.1003G>C (p.Asp335His)
c.991G>C (p.Asp331His)
c.784G>C (p.Asp262His)
c.688G>C (p.Asp230His)
c.568G>C (p.Asp190His)
c.178G>C (p.Asp60His)
5g.139379720C>TCA361139585SLC23A1c.883G>A (p.Asp295Asn)
c.895G>A (p.Asp299Asn)
c.164+236G>A
n.494G>A
c.1003G>A (p.Asp335Asn)
c.991G>A (p.Asp331Asn)
c.784G>A (p.Asp262Asn)
c.688G>A (p.Asp230Asn)
c.568G>A (p.Asp190Asn)
c.178G>A (p.Asp60Asn)
 dbSNP
5g.139379721_139379722delCA804618528SLC23A1c.882_883del (p.Asp295HisfsTer?)
c.894_895del (p.Asp299HisfsTer?)
c.164+235_164+236del
n.493_494del
c.1002_1003del (p.Asp335HisfsTer?)
c.990_991del (p.Asp331HisfsTer?)
c.783_784del (p.Asp262HisfsTer?)
c.687_688del (p.Asp230HisfsTer?)
c.567_568del (p.Asp190HisfsTer?)
c.177_178del (p.Asp60HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
5g.139379721A=CA1586303659SLC23A1c.882T= (p.Gly294=)
c.894T= (p.Gly298=)
c.164+235T=
n.493T=
c.1002T= (p.Gly334=)
c.990T= (p.Gly330=)
c.783T= (p.Gly261=)
c.687T= (p.Gly229=)
c.567T= (p.Gly189=)
c.177T= (p.Gly59=)
5g.139379721A>CCA446793935SLC23A1c.882T>G (p.Gly294=)
c.894T>G (p.Gly298=)
c.164+235T>G
n.493T>G
c.1002T>G (p.Gly334=)
c.990T>G (p.Gly330=)
c.783T>G (p.Gly261=)
c.687T>G (p.Gly229=)
c.567T>G (p.Gly189=)
c.177T>G (p.Gly59=)
 dbSNP
5g.139379721A>GCA446793937SLC23A1c.882T>C (p.Gly294=)
c.894T>C (p.Gly298=)
c.164+235T>C
n.493T>C
c.1002T>C (p.Gly334=)
c.990T>C (p.Gly330=)
c.783T>C (p.Gly261=)
c.687T>C (p.Gly229=)
c.567T>C (p.Gly189=)
c.177T>C (p.Gly59=)
5g.139379721A>TCA446793938SLC23A1c.882T>A (p.Gly294=)
c.894T>A (p.Gly298=)
c.164+235T>A
n.493T>A
c.1002T>A (p.Gly334=)
c.990T>A (p.Gly330=)
c.783T>A (p.Gly261=)
c.687T>A (p.Gly229=)
c.567T>A (p.Gly189=)
c.177T>A (p.Gly59=)
5g.139379722C>ACA361139595SLC23A1c.881G>T (p.Gly294Val)
c.893G>T (p.Gly298Val)
c.164+234G>T
n.492G>T
c.1001G>T (p.Gly334Val)
c.989G>T (p.Gly330Val)
c.782G>T (p.Gly261Val)
c.686G>T (p.Gly229Val)
c.566G>T (p.Gly189Val)
c.176G>T (p.Gly59Val)
5g.139379722C>GCA361139593SLC23A1c.881G>C (p.Gly294Ala)
c.893G>C (p.Gly298Ala)
c.164+234G>C
n.492G>C
c.1001G>C (p.Gly334Ala)
c.989G>C (p.Gly330Ala)
c.782G>C (p.Gly261Ala)
c.686G>C (p.Gly229Ala)
c.566G>C (p.Gly189Ala)
c.176G>C (p.Gly59Ala)
5g.139379722C>TCA361139597SLC23A1c.881G>A (p.Gly294Asp)
c.893G>A (p.Gly298Asp)
c.164+234G>A
n.492G>A
c.1001G>A (p.Gly334Asp)
c.989G>A (p.Gly330Asp)
c.782G>A (p.Gly261Asp)
c.686G>A (p.Gly229Asp)
c.566G>A (p.Gly189Asp)
c.176G>A (p.Gly59Asp)
5g.139379723C>ACA361139599SLC23A1c.880G>T (p.Gly294Cys)
c.892G>T (p.Gly298Cys)
c.164+233G>T
n.491G>T
c.1000G>T (p.Gly334Cys)
c.988G>T (p.Gly330Cys)
c.781G>T (p.Gly261Cys)
c.685G>T (p.Gly229Cys)
c.565G>T (p.Gly189Cys)
c.175G>T (p.Gly59Cys)
5g.139379723C=CA1586303661SLC23A1c.880G= (p.Gly294=)
c.892G= (p.Gly298=)
c.164+233G=
n.491G=
c.1000G= (p.Gly334=)
c.988G= (p.Gly330=)
c.781G= (p.Gly261=)
c.685G= (p.Gly229=)
c.565G= (p.Gly189=)
c.175G= (p.Gly59=)
5g.139379723C>GCA361139602SLC23A1c.880G>C (p.Gly294Arg)
c.892G>C (p.Gly298Arg)
c.164+233G>C
n.491G>C
c.1000G>C (p.Gly334Arg)
c.988G>C (p.Gly330Arg)
c.781G>C (p.Gly261Arg)
c.685G>C (p.Gly229Arg)
c.565G>C (p.Gly189Arg)
c.175G>C (p.Gly59Arg)
5g.139379723C>TCA128242337SLC23A1c.880G>A (p.Gly294Ser)
c.892G>A (p.Gly298Ser)
c.164+233G>A
n.491G>A
c.1000G>A (p.Gly334Ser)
c.988G>A (p.Gly330Ser)
c.781G>A (p.Gly261Ser)
c.685G>A (p.Gly229Ser)
c.565G>A (p.Gly189Ser)
c.175G>A (p.Gly59Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.139379724A>CCA446793942SLC23A1c.879T>G (p.Arg293=)
c.891T>G (p.Arg297=)
c.164+232T>G
n.490T>G
c.999T>G (p.Arg333=)
c.987T>G (p.Arg329=)
c.780T>G (p.Arg260=)
c.684T>G (p.Arg228=)
c.564T>G (p.Arg188=)
c.174T>G (p.Arg58=)
5g.139379724A>GCA446793943SLC23A1c.879T>C (p.Arg293=)
c.891T>C (p.Arg297=)
c.164+232T>C
n.490T>C
c.999T>C (p.Arg333=)
c.987T>C (p.Arg329=)
c.780T>C (p.Arg260=)
c.684T>C (p.Arg228=)
c.564T>C (p.Arg188=)
c.174T>C (p.Arg58=)
5g.139379724A>TCA446793944SLC23A1c.879T>A (p.Arg293=)
c.891T>A (p.Arg297=)
c.164+232T>A
n.490T>A
c.999T>A (p.Arg333=)
c.987T>A (p.Arg329=)
c.780T>A (p.Arg260=)
c.684T>A (p.Arg228=)
c.564T>A (p.Arg188=)
c.174T>A (p.Arg58=)
5g.139379725C>ACA361139606SLC23A1c.878G>T (p.Arg293Leu)
c.890G>T (p.Arg297Leu)
c.164+231G>T
n.489G>T
c.998G>T (p.Arg333Leu)
c.986G>T (p.Arg329Leu)
c.779G>T (p.Arg260Leu)
c.683G>T (p.Arg228Leu)
c.563G>T (p.Arg188Leu)
c.173G>T (p.Arg58Leu)
 dbSNP
5g.139379725C=CA1586303664SLC23A1c.878G= (p.Arg293=)
c.890G= (p.Arg297=)
c.164+231G=
n.489G=
c.998G= (p.Arg333=)
c.986G= (p.Arg329=)
c.779G= (p.Arg260=)
c.683G= (p.Arg228=)
c.563G= (p.Arg188=)
c.173G= (p.Arg58=)
5g.139379725C>GCA361139608SLC23A1c.878G>C (p.Arg293Pro)
c.890G>C (p.Arg297Pro)
c.164+231G>C
n.489G>C
c.998G>C (p.Arg333Pro)
c.986G>C (p.Arg329Pro)
c.779G>C (p.Arg260Pro)
c.683G>C (p.Arg228Pro)
c.563G>C (p.Arg188Pro)
c.173G>C (p.Arg58Pro)
5g.139379725C>TCA3434029SLC23A1c.878G>A (p.Arg293His)
c.890G>A (p.Arg297His)
c.164+231G>A
n.489G>A
c.998G>A (p.Arg333His)
c.986G>A (p.Arg329His)
c.779G>A (p.Arg260His)
c.683G>A (p.Arg228His)
c.563G>A (p.Arg188His)
c.173G>A (p.Arg58His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379726G>ACA3434030SLC23A1c.877C>T (p.Arg293Cys)
c.889C>T (p.Arg297Cys)
c.164+230C>T
n.488C>T
c.997C>T (p.Arg333Cys)
c.985C>T (p.Arg329Cys)
c.778C>T (p.Arg260Cys)
c.682C>T (p.Arg228Cys)
c.562C>T (p.Arg188Cys)
c.172C>T (p.Arg58Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.139379726G>CCA361139613SLC23A1c.877C>G (p.Arg293Gly)
c.889C>G (p.Arg297Gly)
c.164+230C>G
n.488C>G
c.997C>G (p.Arg333Gly)
c.985C>G (p.Arg329Gly)
c.778C>G (p.Arg260Gly)
c.682C>G (p.Arg228Gly)
c.562C>G (p.Arg188Gly)
c.172C>G (p.Arg58Gly)
5g.139379726G=CA1586303667SLC23A1c.877C= (p.Arg293=)
c.889C= (p.Arg297=)
c.164+230C=
n.488C=
c.997C= (p.Arg333=)
c.985C= (p.Arg329=)
c.778C= (p.Arg260=)
c.682C= (p.Arg228=)
c.562C= (p.Arg188=)
c.172C= (p.Arg58=)
5g.139379726G>TCA361139615SLC23A1c.877C>A (p.Arg293Ser)
c.889C>A (p.Arg297Ser)
c.164+230C>A
n.488C>A
c.997C>A (p.Arg333Ser)
c.985C>A (p.Arg329Ser)
c.778C>A (p.Arg260Ser)
c.682C>A (p.Arg228Ser)
c.562C>A (p.Arg188Ser)
c.172C>A (p.Arg58Ser)
5g.139379727G>ACA446793948SLC23A1c.876C>T (p.Ala292=)
c.888C>T (p.Ala296=)
c.164+229C>T
n.487C>T
c.996C>T (p.Ala332=)
c.984C>T (p.Ala328=)
c.777C>T (p.Ala259=)
c.681C>T (p.Ala227=)
c.561C>T (p.Ala187=)
c.171C>T (p.Ala57=)
5g.139379727G>CCA446793950SLC23A1c.876C>G (p.Ala292=)
c.888C>G (p.Ala296=)
c.164+229C>G
n.487C>G
c.996C>G (p.Ala332=)
c.984C>G (p.Ala328=)
c.777C>G (p.Ala259=)
c.681C>G (p.Ala227=)
c.561C>G (p.Ala187=)
c.171C>G (p.Ala57=)
5g.139379727G>TCA446793951SLC23A1c.876C>A (p.Ala292=)
c.888C>A (p.Ala296=)
c.164+229C>A
n.487C>A
c.996C>A (p.Ala332=)
c.984C>A (p.Ala328=)
c.777C>A (p.Ala259=)
c.681C>A (p.Ala227=)
c.561C>A (p.Ala187=)
c.171C>A (p.Ala57=)
5g.139379728G>ACA361139618SLC23A1c.875C>T (p.Ala292Val)
c.887C>T (p.Ala296Val)
c.164+228C>T
n.486C>T
c.995C>T (p.Ala332Val)
c.983C>T (p.Ala328Val)
c.776C>T (p.Ala259Val)
c.680C>T (p.Ala227Val)
c.560C>T (p.Ala187Val)
c.170C>T (p.Ala57Val)
 dbSNP gnomAD v4
5g.139379728G>CCA361139620SLC23A1c.875C>G (p.Ala292Gly)
c.887C>G (p.Ala296Gly)
c.164+228C>G
n.486C>G
c.995C>G (p.Ala332Gly)
c.983C>G (p.Ala328Gly)
c.776C>G (p.Ala259Gly)
c.680C>G (p.Ala227Gly)
c.560C>G (p.Ala187Gly)
c.170C>G (p.Ala57Gly)
5g.139379728G=CA1586303670SLC23A1c.875C= (p.Ala292=)
c.887C= (p.Ala296=)
c.164+228C=
n.486C=
c.995C= (p.Ala332=)
c.983C= (p.Ala328=)
c.776C= (p.Ala259=)
c.680C= (p.Ala227=)
c.560C= (p.Ala187=)
c.170C= (p.Ala57=)
5g.139379728G>TCA361139622SLC23A1c.875C>A (p.Ala292Asp)
c.887C>A (p.Ala296Asp)
c.164+228C>A
n.486C>A
c.995C>A (p.Ala332Asp)
c.983C>A (p.Ala328Asp)
c.776C>A (p.Ala259Asp)
c.680C>A (p.Ala227Asp)
c.560C>A (p.Ala187Asp)
c.170C>A (p.Ala57Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.139379729C>ACA361139624SLC23A1c.874G>T (p.Ala292Ser)
c.886G>T (p.Ala296Ser)
c.164+227G>T
n.485G>T
c.994G>T (p.Ala332Ser)
c.982G>T (p.Ala328Ser)
c.775G>T (p.Ala259Ser)
c.679G>T (p.Ala227Ser)
c.559G>T (p.Ala187Ser)
c.169G>T (p.Ala57Ser)
5g.139379729C=CA1586303674SLC23A1c.874G= (p.Ala292=)
c.886G= (p.Ala296=)
c.164+227G=
n.485G=
c.994G= (p.Ala332=)
c.982G= (p.Ala328=)
c.775G= (p.Ala259=)
c.679G= (p.Ala227=)
c.559G= (p.Ala187=)
c.169G= (p.Ala57=)
5g.139379729C>GCA361139623SLC23A1c.874G>C (p.Ala292Pro)
c.886G>C (p.Ala296Pro)
c.164+227G>C
n.485G>C
c.994G>C (p.Ala332Pro)
c.982G>C (p.Ala328Pro)
c.775G>C (p.Ala259Pro)
c.679G>C (p.Ala227Pro)
c.559G>C (p.Ala187Pro)
c.169G>C (p.Ala57Pro)
5g.139379729C>TCA3434031SLC23A1c.874G>A (p.Ala292Thr)
c.886G>A (p.Ala296Thr)
c.164+227G>A
n.485G>A
c.994G>A (p.Ala332Thr)
c.982G>A (p.Ala328Thr)
c.775G>A (p.Ala259Thr)
c.679G>A (p.Ala227Thr)
c.559G>A (p.Ala187Thr)
c.169G>A (p.Ala57Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379730A=CA1586303679SLC23A1c.873T= (p.Asp291=)
c.885T= (p.Asp295=)
c.164+226T=
n.484T=
c.993T= (p.Asp331=)
c.981T= (p.Asp327=)
c.774T= (p.Asp258=)
c.678T= (p.Asp226=)
c.558T= (p.Asp186=)
c.168T= (p.Asp56=)
5g.139379730A>CCA361139625SLC23A1c.873T>G (p.Asp291Glu)
c.885T>G (p.Asp295Glu)
c.164+226T>G
n.484T>G
c.993T>G (p.Asp331Glu)
c.981T>G (p.Asp327Glu)
c.774T>G (p.Asp258Glu)
c.678T>G (p.Asp226Glu)
c.558T>G (p.Asp186Glu)
c.168T>G (p.Asp56Glu)
5g.139379730A>GCA3434032SLC23A1c.873T>C (p.Asp291=)
c.885T>C (p.Asp295=)
c.164+226T>C
n.484T>C
c.993T>C (p.Asp331=)
c.981T>C (p.Asp327=)
c.774T>C (p.Asp258=)
c.678T>C (p.Asp226=)
c.558T>C (p.Asp186=)
c.168T>C (p.Asp56=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379730A>TCA361139626SLC23A1c.873T>A (p.Asp291Glu)
c.885T>A (p.Asp295Glu)
c.164+226T>A
n.484T>A
c.993T>A (p.Asp331Glu)
c.981T>A (p.Asp327Glu)
c.774T>A (p.Asp258Glu)
c.678T>A (p.Asp226Glu)
c.558T>A (p.Asp186Glu)
c.168T>A (p.Asp56Glu)
 gnomAD v4
5g.139379731T>ACA361139627SLC23A1c.872A>T (p.Asp291Val)
c.884A>T (p.Asp295Val)
c.164+225A>T
n.483A>T
c.992A>T (p.Asp331Val)
c.980A>T (p.Asp327Val)
c.773A>T (p.Asp258Val)
c.677A>T (p.Asp226Val)
c.557A>T (p.Asp186Val)
c.167A>T (p.Asp56Val)
5g.139379731T>CCA361139628SLC23A1c.872A>G (p.Asp291Gly)
c.884A>G (p.Asp295Gly)
c.164+225A>G
n.483A>G
c.992A>G (p.Asp331Gly)
c.980A>G (p.Asp327Gly)
c.773A>G (p.Asp258Gly)
c.677A>G (p.Asp226Gly)
c.557A>G (p.Asp186Gly)
c.167A>G (p.Asp56Gly)
5g.139379731T>GCA361139629SLC23A1c.872A>C (p.Asp291Ala)
c.884A>C (p.Asp295Ala)
c.164+225A>C
n.483A>C
c.992A>C (p.Asp331Ala)
c.980A>C (p.Asp327Ala)
c.773A>C (p.Asp258Ala)
c.677A>C (p.Asp226Ala)
c.557A>C (p.Asp186Ala)
c.167A>C (p.Asp56Ala)
5g.139379732C>ACA361139631SLC23A1c.871G>T (p.Asp291Tyr)
c.883G>T (p.Asp295Tyr)
c.164+224G>T
n.482G>T
c.991G>T (p.Asp331Tyr)
c.979G>T (p.Asp327Tyr)
c.772G>T (p.Asp258Tyr)
c.676G>T (p.Asp226Tyr)
c.556G>T (p.Asp186Tyr)
c.166G>T (p.Asp56Tyr)
5g.139379732C=CA1586303684SLC23A1c.871G= (p.Asp291=)
c.883G= (p.Asp295=)
c.164+224G=
n.482G=
c.991G= (p.Asp331=)
c.979G= (p.Asp327=)
c.772G= (p.Asp258=)
c.676G= (p.Asp226=)
c.556G= (p.Asp186=)
c.166G= (p.Asp56=)
5g.139379732C>GCA361139634SLC23A1c.871G>C (p.Asp291His)
c.883G>C (p.Asp295His)
c.164+224G>C
n.482G>C
c.991G>C (p.Asp331His)
c.979G>C (p.Asp327His)
c.772G>C (p.Asp258His)
c.676G>C (p.Asp226His)
c.556G>C (p.Asp186His)
c.166G>C (p.Asp56His)
5g.139379732C>TCA3434033SLC23A1c.871G>A (p.Asp291Asn)
c.883G>A (p.Asp295Asn)
c.164+224G>A
n.482G>A
c.991G>A (p.Asp331Asn)
c.979G>A (p.Asp327Asn)
c.772G>A (p.Asp258Asn)
c.676G>A (p.Asp226Asn)
c.556G>A (p.Asp186Asn)
c.166G>A (p.Asp56Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379733G>ACA128242352SLC23A1c.870C>T (p.Thr290=)
c.882C>T (p.Thr294=)
c.164+223C>T
n.481C>T
c.990C>T (p.Thr330=)
c.978C>T (p.Thr326=)
c.771C>T (p.Thr257=)
c.675C>T (p.Thr225=)
c.555C>T (p.Thr185=)
c.165C>T (p.Thr55=)
 dbSNP gnomAD v3 gnomAD v4
5g.139379733G>CCA446793957SLC23A1c.870C>G (p.Thr290=)
c.882C>G (p.Thr294=)
c.164+223C>G
n.481C>G
c.990C>G (p.Thr330=)
c.978C>G (p.Thr326=)
c.771C>G (p.Thr257=)
c.675C>G (p.Thr225=)
c.555C>G (p.Thr185=)
c.165C>G (p.Thr55=)
5g.139379733G=CA1586303687SLC23A1c.870C= (p.Thr290=)
c.882C= (p.Thr294=)
c.164+223C=
n.481C=
c.990C= (p.Thr330=)
c.978C= (p.Thr326=)
c.771C= (p.Thr257=)
c.675C= (p.Thr225=)
c.555C= (p.Thr185=)
c.165C= (p.Thr55=)
5g.139379733G>TCA3434034SLC23A1c.870C>A (p.Thr290=)
c.882C>A (p.Thr294=)
c.164+223C>A
n.481C>A
c.990C>A (p.Thr330=)
c.978C>A (p.Thr326=)
c.771C>A (p.Thr257=)
c.675C>A (p.Thr225=)
c.555C>A (p.Thr185=)
c.165C>A (p.Thr55=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379734G>ACA361139644SLC23A1c.869C>T (p.Thr290Ile)
c.881C>T (p.Thr294Ile)
c.164+222C>T
n.480C>T
c.989C>T (p.Thr330Ile)
c.977C>T (p.Thr326Ile)
c.770C>T (p.Thr257Ile)
c.674C>T (p.Thr225Ile)
c.554C>T (p.Thr185Ile)
c.164C>T (p.Thr55Ile)
5g.139379734G>CCA361139643SLC23A1c.869C>G (p.Thr290Ser)
c.881C>G (p.Thr294Ser)
c.164+222C>G
n.480C>G
c.989C>G (p.Thr330Ser)
c.977C>G (p.Thr326Ser)
c.770C>G (p.Thr257Ser)
c.674C>G (p.Thr225Ser)
c.554C>G (p.Thr185Ser)
c.164C>G (p.Thr55Ser)
 gnomAD v4
5g.139379734G>TCA361139641SLC23A1c.869C>A (p.Thr290Asn)
c.881C>A (p.Thr294Asn)
c.164+222C>A
n.480C>A
c.989C>A (p.Thr330Asn)
c.977C>A (p.Thr326Asn)
c.770C>A (p.Thr257Asn)
c.674C>A (p.Thr225Asn)
c.554C>A (p.Thr185Asn)
c.164C>A (p.Thr55Asn)
5g.139379735T>ACA361139646SLC23A1c.868A>T (p.Thr290Ser)
c.880A>T (p.Thr294Ser)
c.164+221A>T
n.479A>T
c.988A>T (p.Thr330Ser)
c.976A>T (p.Thr326Ser)
c.769A>T (p.Thr257Ser)
c.673A>T (p.Thr225Ser)
c.553A>T (p.Thr185Ser)
c.163A>T (p.Thr55Ser)
5g.139379735T>CCA361139648SLC23A1c.868A>G (p.Thr290Ala)
c.880A>G (p.Thr294Ala)
c.164+221A>G
n.479A>G
c.988A>G (p.Thr330Ala)
c.976A>G (p.Thr326Ala)
c.769A>G (p.Thr257Ala)
c.673A>G (p.Thr225Ala)
c.553A>G (p.Thr185Ala)
c.163A>G (p.Thr55Ala)
5g.139379735T>GCA361139651SLC23A1c.868A>C (p.Thr290Pro)
c.880A>C (p.Thr294Pro)
c.164+221A>C
n.479A>C
c.988A>C (p.Thr330Pro)
c.976A>C (p.Thr326Pro)
c.769A>C (p.Thr257Pro)
c.673A>C (p.Thr225Pro)
c.553A>C (p.Thr185Pro)
c.163A>C (p.Thr55Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379735T=CA1586303691SLC23A1c.868A= (p.Thr290=)
c.880A= (p.Thr294=)
c.164+221A=
n.479A=
c.988A= (p.Thr330=)
c.976A= (p.Thr326=)
c.769A= (p.Thr257=)
c.673A= (p.Thr225=)
c.553A= (p.Thr185=)
c.163A= (p.Thr55=)
5g.139379736T>ACA446793961SLC23A1c.867A>T (p.Arg289=)
c.879A>T (p.Arg293=)
c.164+220A>T
n.478A>T
c.987A>T (p.Arg329=)
c.975A>T (p.Arg325=)
c.768A>T (p.Arg256=)
c.672A>T (p.Arg224=)
c.552A>T (p.Arg184=)
c.162A>T (p.Arg54=)
5g.139379736T>CCA446793963SLC23A1c.867A>G (p.Arg289=)
c.879A>G (p.Arg293=)
c.164+220A>G
n.478A>G
c.987A>G (p.Arg329=)
c.975A>G (p.Arg325=)
c.768A>G (p.Arg256=)
c.672A>G (p.Arg224=)
c.552A>G (p.Arg184=)
c.162A>G (p.Arg54=)
5g.139379736T>GCA446793962SLC23A1c.867A>C (p.Arg289=)
c.879A>C (p.Arg293=)
c.164+220A>C
n.478A>C
c.987A>C (p.Arg329=)
c.975A>C (p.Arg325=)
c.768A>C (p.Arg256=)
c.672A>C (p.Arg224=)
c.552A>C (p.Arg184=)
c.162A>C (p.Arg54=)
5g.139379737C>ACA361139654SLC23A1c.866G>T (p.Arg289Leu)
c.878G>T (p.Arg293Leu)
c.164+219G>T
n.477G>T
c.986G>T (p.Arg329Leu)
c.974G>T (p.Arg325Leu)
c.767G>T (p.Arg256Leu)
c.671G>T (p.Arg224Leu)
c.551G>T (p.Arg184Leu)
c.161G>T (p.Arg54Leu)
5g.139379737C=CA1586303696SLC23A1c.866G= (p.Arg289=)
c.878G= (p.Arg293=)
c.164+219G=
n.477G=
c.986G= (p.Arg329=)
c.974G= (p.Arg325=)
c.767G= (p.Arg256=)
c.671G= (p.Arg224=)
c.551G= (p.Arg184=)
c.161G= (p.Arg54=)
5g.139379737C>GCA361139656SLC23A1c.866G>C (p.Arg289Pro)
c.878G>C (p.Arg293Pro)
c.164+219G>C
n.477G>C
c.986G>C (p.Arg329Pro)
c.974G>C (p.Arg325Pro)
c.767G>C (p.Arg256Pro)
c.671G>C (p.Arg224Pro)
c.551G>C (p.Arg184Pro)
c.161G>C (p.Arg54Pro)
5g.139379737C>TCA361139659SLC23A1c.866G>A (p.Arg289Gln)
c.878G>A (p.Arg293Gln)
c.164+219G>A
n.477G>A
c.986G>A (p.Arg329Gln)
c.974G>A (p.Arg325Gln)
c.767G>A (p.Arg256Gln)
c.671G>A (p.Arg224Gln)
c.551G>A (p.Arg184Gln)
c.161G>A (p.Arg54Gln)
 dbSNP gnomAD v4
5g.139379738G>ACA3434035SLC23A1c.865C>T (p.Arg289Ter)
c.877C>T (p.Arg293Ter)
c.164+218C>T
n.476C>T
c.985C>T (p.Arg329Ter)
c.973C>T (p.Arg325Ter)
c.766C>T (p.Arg256Ter)
c.670C>T (p.Arg224Ter)
c.550C>T (p.Arg184Ter)
c.160C>T (p.Arg54Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379738G>CCA128242421SLC23A1c.865C>G (p.Arg289Gly)
c.877C>G (p.Arg293Gly)
c.164+218C>G
n.476C>G
c.985C>G (p.Arg329Gly)
c.973C>G (p.Arg325Gly)
c.766C>G (p.Arg256Gly)
c.670C>G (p.Arg224Gly)
c.550C>G (p.Arg184Gly)
c.160C>G (p.Arg54Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.139379738G=CA1586303700SLC23A1c.865C= (p.Arg289=)
c.877C= (p.Arg293=)
c.164+218C=
n.476C=
c.985C= (p.Arg329=)
c.973C= (p.Arg325=)
c.766C= (p.Arg256=)
c.670C= (p.Arg224=)
c.550C= (p.Arg184=)
c.160C= (p.Arg54=)
5g.139379738G>TCA446793964SLC23A1c.865C>A (p.Arg289=)
c.877C>A (p.Arg293=)
c.164+218C>A
n.476C>A
c.985C>A (p.Arg329=)
c.973C>A (p.Arg325=)
c.766C>A (p.Arg256=)
c.670C>A (p.Arg224=)
c.550C>A (p.Arg184=)
c.160C>A (p.Arg54=)
 dbSNP gnomAD v2 gnomAD v4
5g.139379739T>ACA446793965SLC23A1c.864A>T (p.Ala288=)
c.876A>T (p.Ala292=)
c.164+217A>T
n.475A>T
c.984A>T (p.Ala328=)
c.972A>T (p.Ala324=)
c.765A>T (p.Ala255=)
c.669A>T (p.Ala223=)
c.549A>T (p.Ala183=)
c.159A>T (p.Ala53=)
5g.139379739T>CCA446793967SLC23A1c.864A>G (p.Ala288=)
c.876A>G (p.Ala292=)
c.164+217A>G
n.475A>G
c.984A>G (p.Ala328=)
c.972A>G (p.Ala324=)
c.765A>G (p.Ala255=)
c.669A>G (p.Ala223=)
c.549A>G (p.Ala183=)
c.159A>G (p.Ala53=)
5g.139379739T>GCA446793968SLC23A1c.864A>C (p.Ala288=)
c.876A>C (p.Ala292=)
c.164+217A>C
n.475A>C
c.984A>C (p.Ala328=)
c.972A>C (p.Ala324=)
c.765A>C (p.Ala255=)
c.669A>C (p.Ala223=)
c.549A>C (p.Ala183=)
c.159A>C (p.Ala53=)
5g.139379740G>ACA361139662SLC23A1c.863C>T (p.Ala288Val)
c.875C>T (p.Ala292Val)
c.164+216C>T
n.474C>T
c.983C>T (p.Ala328Val)
c.971C>T (p.Ala324Val)
c.764C>T (p.Ala255Val)
c.668C>T (p.Ala223Val)
c.548C>T (p.Ala183Val)
c.158C>T (p.Ala53Val)
5g.139379740G>CCA361139663SLC23A1c.863C>G (p.Ala288Gly)
c.875C>G (p.Ala292Gly)
c.164+216C>G
n.474C>G
c.983C>G (p.Ala328Gly)
c.971C>G (p.Ala324Gly)
c.764C>G (p.Ala255Gly)
c.668C>G (p.Ala223Gly)
c.548C>G (p.Ala183Gly)
c.158C>G (p.Ala53Gly)
5g.139379740G>TCA361139664SLC23A1c.863C>A (p.Ala288Glu)
c.875C>A (p.Ala292Glu)
c.164+216C>A
n.474C>A
c.983C>A (p.Ala328Glu)
c.971C>A (p.Ala324Glu)
c.764C>A (p.Ala255Glu)
c.668C>A (p.Ala223Glu)
c.548C>A (p.Ala183Glu)
c.158C>A (p.Ala53Glu)
 gnomAD v4
5g.139379741C>ACA361139667SLC23A1c.862G>T (p.Ala288Ser)
c.874G>T (p.Ala292Ser)
c.164+215G>T
n.473G>T
c.982G>T (p.Ala328Ser)
c.970G>T (p.Ala324Ser)
c.763G>T (p.Ala255Ser)
c.667G>T (p.Ala223Ser)
c.547G>T (p.Ala183Ser)
c.157G>T (p.Ala53Ser)
 gnomAD v4
5g.139379741C>GCA361139666SLC23A1c.862G>C (p.Ala288Pro)
c.874G>C (p.Ala292Pro)
c.164+215G>C
n.473G>C
c.982G>C (p.Ala328Pro)
c.970G>C (p.Ala324Pro)
c.763G>C (p.Ala255Pro)
c.667G>C (p.Ala223Pro)
c.547G>C (p.Ala183Pro)
c.157G>C (p.Ala53Pro)
5g.139379741C>TCA361139665SLC23A1c.862G>A (p.Ala288Thr)
c.874G>A (p.Ala292Thr)
c.164+215G>A
n.473G>A
c.982G>A (p.Ala328Thr)
c.970G>A (p.Ala324Thr)
c.763G>A (p.Ala255Thr)
c.667G>A (p.Ala223Thr)
c.547G>A (p.Ala183Thr)
c.157G>A (p.Ala53Thr)
5g.139379742C>ACA361139668SLC23A1c.861G>T (p.Gln287His)
c.873G>T (p.Gln291His)
c.164+214G>T
n.472G>T
c.981G>T (p.Gln327His)
c.969G>T (p.Gln323His)
c.762G>T (p.Gln254His)
c.666G>T (p.Gln222His)
c.546G>T (p.Gln182His)
c.156G>T (p.Gln52His)
5g.139379742C>GCA361139669SLC23A1c.861G>C (p.Gln287His)
c.873G>C (p.Gln291His)
c.164+214G>C
n.472G>C
c.981G>C (p.Gln327His)
c.969G>C (p.Gln323His)
c.762G>C (p.Gln254His)
c.666G>C (p.Gln222His)
c.546G>C (p.Gln182His)
c.156G>C (p.Gln52His)
5g.139379742C>TCA446793970SLC23A1c.861G>A (p.Gln287=)
c.873G>A (p.Gln291=)
c.164+214G>A
n.472G>A
c.981G>A (p.Gln327=)
c.969G>A (p.Gln323=)
c.762G>A (p.Gln254=)
c.666G>A (p.Gln222=)
c.546G>A (p.Gln182=)
c.156G>A (p.Gln52=)
5g.139379743T>ACA361139670SLC23A1c.860A>T (p.Gln287Leu)
c.872A>T (p.Gln291Leu)
c.164+213A>T
n.471A>T
c.980A>T (p.Gln327Leu)
c.968A>T (p.Gln323Leu)
c.761A>T (p.Gln254Leu)
c.665A>T (p.Gln222Leu)
c.545A>T (p.Gln182Leu)
c.155A>T (p.Gln52Leu)
5g.139379743T>CCA361139671SLC23A1c.860A>G (p.Gln287Arg)
c.872A>G (p.Gln291Arg)
c.164+213A>G
n.471A>G
c.980A>G (p.Gln327Arg)
c.968A>G (p.Gln323Arg)
c.761A>G (p.Gln254Arg)
c.665A>G (p.Gln222Arg)
c.545A>G (p.Gln182Arg)
c.155A>G (p.Gln52Arg)
 dbSNP gnomAD v4
5g.139379743T>GCA361139672SLC23A1c.860A>C (p.Gln287Pro)
c.872A>C (p.Gln291Pro)
c.164+213A>C
n.471A>C
c.980A>C (p.Gln327Pro)
c.968A>C (p.Gln323Pro)
c.761A>C (p.Gln254Pro)
c.665A>C (p.Gln222Pro)
c.545A>C (p.Gln182Pro)
c.155A>C (p.Gln52Pro)
5g.139379743T=CA1586303704SLC23A1c.860A= (p.Gln287=)
c.872A= (p.Gln291=)
c.164+213A=
n.471A=
c.980A= (p.Gln327=)
c.968A= (p.Gln323=)
c.761A= (p.Gln254=)
c.665A= (p.Gln222=)
c.545A= (p.Gln182=)
c.155A= (p.Gln52=)
5g.139379744G>ACA361139673SLC23A1c.859C>T (p.Gln287Ter)
c.871C>T (p.Gln291Ter)
c.164+212C>T
n.470C>T
c.979C>T (p.Gln327Ter)
c.967C>T (p.Gln323Ter)
c.760C>T (p.Gln254Ter)
c.664C>T (p.Gln222Ter)
c.544C>T (p.Gln182Ter)
c.154C>T (p.Gln52Ter)
 gnomAD v4
5g.139379744G>CCA361139674SLC23A1c.859C>G (p.Gln287Glu)
c.871C>G (p.Gln291Glu)
c.164+212C>G
n.470C>G
c.979C>G (p.Gln327Glu)
c.967C>G (p.Gln323Glu)
c.760C>G (p.Gln254Glu)
c.664C>G (p.Gln222Glu)
c.544C>G (p.Gln182Glu)
c.154C>G (p.Gln52Glu)
5g.139379744G>TCA361139675SLC23A1c.859C>A (p.Gln287Lys)
c.871C>A (p.Gln291Lys)
c.164+212C>A
n.470C>A
c.979C>A (p.Gln327Lys)
c.967C>A (p.Gln323Lys)
c.760C>A (p.Gln254Lys)
c.664C>A (p.Gln222Lys)
c.544C>A (p.Gln182Lys)
c.154C>A (p.Gln52Lys)
5g.139379745G>ACA446793973SLC23A1c.858C>T (p.Phe286=)
c.870C>T (p.Phe290=)
c.164+211C>T
n.469C>T
c.978C>T (p.Phe326=)
c.966C>T (p.Phe322=)
c.759C>T (p.Phe253=)
c.663C>T (p.Phe221=)
c.543C>T (p.Phe181=)
c.153C>T (p.Phe51=)
5g.139379745G>CCA361139676SLC23A1c.858C>G (p.Phe286Leu)
c.870C>G (p.Phe290Leu)
c.164+211C>G
n.469C>G
c.978C>G (p.Phe326Leu)
c.966C>G (p.Phe322Leu)
c.759C>G (p.Phe253Leu)
c.663C>G (p.Phe221Leu)
c.543C>G (p.Phe181Leu)
c.153C>G (p.Phe51Leu)
5g.139379745G=CA1586303708SLC23A1c.858C= (p.Phe286=)
c.870C= (p.Phe290=)
c.164+211C=
n.469C=
c.978C= (p.Phe326=)
c.966C= (p.Phe322=)
c.759C= (p.Phe253=)
c.663C= (p.Phe221=)
c.543C= (p.Phe181=)
c.153C= (p.Phe51=)
5g.139379745G>TCA128242423SLC23A1c.858C>A (p.Phe286Leu)
c.870C>A (p.Phe290Leu)
c.164+211C>A
n.469C>A
c.978C>A (p.Phe326Leu)
c.966C>A (p.Phe322Leu)
c.759C>A (p.Phe253Leu)
c.663C>A (p.Phe221Leu)
c.543C>A (p.Phe181Leu)
c.153C>A (p.Phe51Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.139379746A>CCA361139677SLC23A1c.857T>G (p.Phe286Cys)
c.869T>G (p.Phe290Cys)
c.164+210T>G
n.468T>G
c.977T>G (p.Phe326Cys)
c.965T>G (p.Phe322Cys)
c.758T>G (p.Phe253Cys)
c.662T>G (p.Phe221Cys)
c.542T>G (p.Phe181Cys)
c.152T>G (p.Phe51Cys)
5g.139379746A>GCA361139678SLC23A1c.857T>C (p.Phe286Ser)
c.869T>C (p.Phe290Ser)
c.164+210T>C
n.468T>C
c.977T>C (p.Phe326Ser)
c.965T>C (p.Phe322Ser)
c.758T>C (p.Phe253Ser)
c.662T>C (p.Phe221Ser)
c.542T>C (p.Phe181Ser)
c.152T>C (p.Phe51Ser)
5g.139379746A>TCA361139679SLC23A1c.857T>A (p.Phe286Tyr)
c.869T>A (p.Phe290Tyr)
c.164+210T>A
n.468T>A
c.977T>A (p.Phe326Tyr)
c.965T>A (p.Phe322Tyr)
c.758T>A (p.Phe253Tyr)
c.662T>A (p.Phe221Tyr)
c.542T>A (p.Phe181Tyr)
c.152T>A (p.Phe51Tyr)
5g.139379747A>CCA361139681SLC23A1c.856T>G (p.Phe286Val)
c.868T>G (p.Phe290Val)
c.164+209T>G
n.467T>G
c.976T>G (p.Phe326Val)
c.964T>G (p.Phe322Val)
c.757T>G (p.Phe253Val)
c.661T>G (p.Phe221Val)
c.541T>G (p.Phe181Val)
c.151T>G (p.Phe51Val)
5g.139379747A>GCA361139682SLC23A1c.856T>C (p.Phe286Leu)
c.868T>C (p.Phe290Leu)
c.164+209T>C
n.467T>C
c.976T>C (p.Phe326Leu)
c.964T>C (p.Phe322Leu)
c.757T>C (p.Phe253Leu)
c.661T>C (p.Phe221Leu)
c.541T>C (p.Phe181Leu)
c.151T>C (p.Phe51Leu)
5g.139379747A>TCA361139680SLC23A1c.856T>A (p.Phe286Ile)
c.868T>A (p.Phe290Ile)
c.164+209T>A
n.467T>A
c.976T>A (p.Phe326Ile)
c.964T>A (p.Phe322Ile)
c.757T>A (p.Phe253Ile)
c.661T>A (p.Phe221Ile)
c.541T>A (p.Phe181Ile)
c.151T>A (p.Phe51Ile)
5g.139379748G>ACA446793978SLC23A1c.855C>T (p.Gly285=)
c.867C>T (p.Gly289=)
c.164+208C>T
n.466C>T
c.975C>T (p.Gly325=)
c.963C>T (p.Gly321=)
c.756C>T (p.Gly252=)
c.660C>T (p.Gly220=)
c.540C>T (p.Gly180=)
c.150C>T (p.Gly50=)
 gnomAD v4
5g.139379748G>CCA446793979SLC23A1c.855C>G (p.Gly285=)
c.867C>G (p.Gly289=)
c.164+208C>G
n.466C>G
c.975C>G (p.Gly325=)
c.963C>G (p.Gly321=)
c.756C>G (p.Gly252=)
c.660C>G (p.Gly220=)
c.540C>G (p.Gly180=)
c.150C>G (p.Gly50=)
5g.139379748G>TCA446793980SLC23A1c.855C>A (p.Gly285=)
c.867C>A (p.Gly289=)
c.164+208C>A
n.466C>A
c.975C>A (p.Gly325=)
c.963C>A (p.Gly321=)
c.756C>A (p.Gly252=)
c.660C>A (p.Gly220=)
c.540C>A (p.Gly180=)
c.150C>A (p.Gly50=)
5g.139379749C>ACA361139685SLC23A1c.854G>T (p.Gly285Val)
c.866G>T (p.Gly289Val)
c.164+207G>T
n.465G>T
c.974G>T (p.Gly325Val)
c.962G>T (p.Gly321Val)
c.755G>T (p.Gly252Val)
c.659G>T (p.Gly220Val)
c.539G>T (p.Gly180Val)
c.149G>T (p.Gly50Val)
5g.139379749C>GCA361139683SLC23A1c.854G>C (p.Gly285Ala)
c.866G>C (p.Gly289Ala)
c.164+207G>C
n.465G>C
c.974G>C (p.Gly325Ala)
c.962G>C (p.Gly321Ala)
c.755G>C (p.Gly252Ala)
c.659G>C (p.Gly220Ala)
c.539G>C (p.Gly180Ala)
c.149G>C (p.Gly50Ala)
 gnomAD v4
5g.139379749C>TCA361139684SLC23A1c.854G>A (p.Gly285Asp)
c.866G>A (p.Gly289Asp)
c.164+207G>A
n.465G>A
c.974G>A (p.Gly325Asp)
c.962G>A (p.Gly321Asp)
c.755G>A (p.Gly252Asp)
c.659G>A (p.Gly220Asp)
c.539G>A (p.Gly180Asp)
c.149G>A (p.Gly50Asp)
 gnomAD v4
5g.139379750C>ACA361139686SLC23A1c.853G>T (p.Gly285Cys)
c.865G>T (p.Gly289Cys)
c.164+206G>T
n.464G>T
c.973G>T (p.Gly325Cys)
c.961G>T (p.Gly321Cys)
c.754G>T (p.Gly252Cys)
c.658G>T (p.Gly220Cys)
c.538G>T (p.Gly180Cys)
c.148G>T (p.Gly50Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.139379750C=CA1586303712SLC23A1c.853G= (p.Gly285=)
c.865G= (p.Gly289=)
c.164+206G=
n.464G=
c.973G= (p.Gly325=)
c.961G= (p.Gly321=)
c.754G= (p.Gly252=)
c.658G= (p.Gly220=)
c.538G= (p.Gly180=)
c.148G= (p.Gly50=)
5g.139379750C>GCA361139687SLC23A1c.853G>C (p.Gly285Arg)
c.865G>C (p.Gly289Arg)
c.164+206G>C
n.464G>C
c.973G>C (p.Gly325Arg)
c.961G>C (p.Gly321Arg)
c.754G>C (p.Gly252Arg)
c.658G>C (p.Gly220Arg)
c.538G>C (p.Gly180Arg)
c.148G>C (p.Gly50Arg)
5g.139379750C>TCA361139688SLC23A1c.853G>A (p.Gly285Ser)
c.865G>A (p.Gly289Ser)
c.164+206G>A
n.464G>A
c.973G>A (p.Gly325Ser)
c.961G>A (p.Gly321Ser)
c.754G>A (p.Gly252Ser)
c.658G>A (p.Gly220Ser)
c.538G>A (p.Gly180Ser)
c.148G>A (p.Gly50Ser)
 gnomAD v4
5g.139379751A=CA1586303715SLC23A1c.852T= (p.Tyr284=)
c.864T= (p.Tyr288=)
c.164+205T=
n.463T=
c.972T= (p.Tyr324=)
c.960T= (p.Tyr320=)
c.753T= (p.Tyr251=)
c.657T= (p.Tyr219=)
c.537T= (p.Tyr179=)
c.147T= (p.Tyr49=)
5g.139379751A>CCA361139690SLC23A1c.852T>G (p.Tyr284Ter)
c.864T>G (p.Tyr288Ter)
c.164+205T>G
n.463T>G
c.972T>G (p.Tyr324Ter)
c.960T>G (p.Tyr320Ter)
c.753T>G (p.Tyr251Ter)
c.657T>G (p.Tyr219Ter)
c.537T>G (p.Tyr179Ter)
c.147T>G (p.Tyr49Ter)
 gnomAD v4
5g.139379751A>GCA128242427SLC23A1c.852T>C (p.Tyr284=)
c.864T>C (p.Tyr288=)
c.164+205T>C
n.463T>C
c.972T>C (p.Tyr324=)
c.960T>C (p.Tyr320=)
c.753T>C (p.Tyr251=)
c.657T>C (p.Tyr219=)
c.537T>C (p.Tyr179=)
c.147T>C (p.Tyr49=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379751A>TCA361139689SLC23A1c.852T>A (p.Tyr284Ter)
c.864T>A (p.Tyr288Ter)
c.164+205T>A
n.463T>A
c.972T>A (p.Tyr324Ter)
c.960T>A (p.Tyr320Ter)
c.753T>A (p.Tyr251Ter)
c.657T>A (p.Tyr219Ter)
c.537T>A (p.Tyr179Ter)
c.147T>A (p.Tyr49Ter)
5g.139379752T>ACA361139691SLC23A1c.851A>T (p.Tyr284Phe)
c.863A>T (p.Tyr288Phe)
c.164+204A>T
n.462A>T
c.971A>T (p.Tyr324Phe)
c.959A>T (p.Tyr320Phe)
c.752A>T (p.Tyr251Phe)
c.656A>T (p.Tyr219Phe)
c.536A>T (p.Tyr179Phe)
c.146A>T (p.Tyr49Phe)
5g.139379752T>CCA361139692SLC23A1c.851A>G (p.Tyr284Cys)
c.863A>G (p.Tyr288Cys)
c.164+204A>G
n.462A>G
c.971A>G (p.Tyr324Cys)
c.959A>G (p.Tyr320Cys)
c.752A>G (p.Tyr251Cys)
c.656A>G (p.Tyr219Cys)
c.536A>G (p.Tyr179Cys)
c.146A>G (p.Tyr49Cys)
 gnomAD v4
5g.139379752T>GCA361139693SLC23A1c.851A>C (p.Tyr284Ser)
c.863A>C (p.Tyr288Ser)
c.164+204A>C
n.462A>C
c.971A>C (p.Tyr324Ser)
c.959A>C (p.Tyr320Ser)
c.752A>C (p.Tyr251Ser)
c.656A>C (p.Tyr219Ser)
c.536A>C (p.Tyr179Ser)
c.146A>C (p.Tyr49Ser)
 dbSNP gnomAD v4
5g.139379752T=CA1586303718SLC23A1c.851A= (p.Tyr284=)
c.863A= (p.Tyr288=)
c.164+204A=
n.462A=
c.971A= (p.Tyr324=)
c.959A= (p.Tyr320=)
c.752A= (p.Tyr251=)
c.656A= (p.Tyr219=)
c.536A= (p.Tyr179=)
c.146A= (p.Tyr49=)
5g.139379753A>CCA361139694SLC23A1c.850T>G (p.Tyr284Asp)
c.862T>G (p.Tyr288Asp)
c.164+203T>G
n.461T>G
c.970T>G (p.Tyr324Asp)
c.958T>G (p.Tyr320Asp)
c.751T>G (p.Tyr251Asp)
c.655T>G (p.Tyr219Asp)
c.535T>G (p.Tyr179Asp)
c.145T>G (p.Tyr49Asp)
5g.139379753A>GCA361139695SLC23A1c.850T>C (p.Tyr284His)
c.862T>C (p.Tyr288His)
c.164+203T>C
n.461T>C
c.970T>C (p.Tyr324His)
c.958T>C (p.Tyr320His)
c.751T>C (p.Tyr251His)
c.655T>C (p.Tyr219His)
c.535T>C (p.Tyr179His)
c.145T>C (p.Tyr49His)
5g.139379753A>TCA361139696SLC23A1c.850T>A (p.Tyr284Asn)
c.862T>A (p.Tyr288Asn)
c.164+203T>A
n.461T>A
c.970T>A (p.Tyr324Asn)
c.958T>A (p.Tyr320Asn)
c.751T>A (p.Tyr251Asn)
c.655T>A (p.Tyr219Asn)
c.535T>A (p.Tyr179Asn)
c.145T>A (p.Tyr49Asn)
5g.139379754G>ACA446793982SLC23A1c.849C>T (p.Ala283=)
c.861C>T (p.Ala287=)
c.164+202C>T
n.460C>T
c.969C>T (p.Ala323=)
c.957C>T (p.Ala319=)
c.750C>T (p.Ala250=)
c.654C>T (p.Ala218=)
c.534C>T (p.Ala178=)
c.144C>T (p.Ala48=)
5g.139379754G>CCA446793983SLC23A1c.849C>G (p.Ala283=)
c.861C>G (p.Ala287=)
c.164+202C>G
n.460C>G
c.969C>G (p.Ala323=)
c.957C>G (p.Ala319=)
c.750C>G (p.Ala250=)
c.654C>G (p.Ala218=)
c.534C>G (p.Ala178=)
c.144C>G (p.Ala48=)
5g.139379754G>TCA446793985SLC23A1c.849C>A (p.Ala283=)
c.861C>A (p.Ala287=)
c.164+202C>A
n.460C>A
c.969C>A (p.Ala323=)
c.957C>A (p.Ala319=)
c.750C>A (p.Ala250=)
c.654C>A (p.Ala218=)
c.534C>A (p.Ala178=)
c.144C>A (p.Ala48=)
5g.139379755G>ACA361139697SLC23A1c.848C>T (p.Ala283Val)
c.860C>T (p.Ala287Val)
c.164+201C>T
n.459C>T
c.968C>T (p.Ala323Val)
c.956C>T (p.Ala319Val)
c.749C>T (p.Ala250Val)
c.653C>T (p.Ala218Val)
c.533C>T (p.Ala178Val)
c.143C>T (p.Ala48Val)
5g.139379755G>CCA361139699SLC23A1c.848C>G (p.Ala283Gly)
c.860C>G (p.Ala287Gly)
c.164+201C>G
n.459C>G
c.968C>G (p.Ala323Gly)
c.956C>G (p.Ala319Gly)
c.749C>G (p.Ala250Gly)
c.653C>G (p.Ala218Gly)
c.533C>G (p.Ala178Gly)
c.143C>G (p.Ala48Gly)
5g.139379755G>TCA361139698SLC23A1c.848C>A (p.Ala283Asp)
c.860C>A (p.Ala287Asp)
c.164+201C>A
n.459C>A
c.968C>A (p.Ala323Asp)
c.956C>A (p.Ala319Asp)
c.749C>A (p.Ala250Asp)
c.653C>A (p.Ala218Asp)
c.533C>A (p.Ala178Asp)
c.143C>A (p.Ala48Asp)
 gnomAD v4
5g.139379756C>ACA361139700SLC23A1c.847G>T (p.Ala283Ser)
c.859G>T (p.Ala287Ser)
c.164+200G>T
n.458G>T
c.967G>T (p.Ala323Ser)
c.955G>T (p.Ala319Ser)
c.748G>T (p.Ala250Ser)
c.652G>T (p.Ala218Ser)
c.532G>T (p.Ala178Ser)
c.142G>T (p.Ala48Ser)
5g.139379756C>GCA361139701SLC23A1c.847G>C (p.Ala283Pro)
c.859G>C (p.Ala287Pro)
c.164+200G>C
n.458G>C
c.967G>C (p.Ala323Pro)
c.955G>C (p.Ala319Pro)
c.748G>C (p.Ala250Pro)
c.652G>C (p.Ala218Pro)
c.532G>C (p.Ala178Pro)
c.142G>C (p.Ala48Pro)
5g.139379756C>TCA361139702SLC23A1c.847G>A (p.Ala283Thr)
c.859G>A (p.Ala287Thr)
c.164+200G>A
n.458G>A
c.967G>A (p.Ala323Thr)
c.955G>A (p.Ala319Thr)
c.748G>A (p.Ala250Thr)
c.652G>A (p.Ala218Thr)
c.532G>A (p.Ala178Thr)
c.142G>A (p.Ala48Thr)
5g.139379757T>ACA361139703SLC23A1c.846A>T (p.Lys282Asn)
c.858A>T (p.Lys286Asn)
c.164+199A>T
n.457A>T
c.966A>T (p.Lys322Asn)
c.954A>T (p.Lys318Asn)
c.747A>T (p.Lys249Asn)
c.651A>T (p.Lys217Asn)
c.531A>T (p.Lys177Asn)
c.141A>T (p.Lys47Asn)
5g.139379757T>CCA446793988SLC23A1c.846A>G (p.Lys282=)
c.858A>G (p.Lys286=)
c.164+199A>G
n.457A>G
c.966A>G (p.Lys322=)
c.954A>G (p.Lys318=)
c.747A>G (p.Lys249=)
c.651A>G (p.Lys217=)
c.531A>G (p.Lys177=)
c.141A>G (p.Lys47=)
5g.139379757T>GCA361139704SLC23A1c.846A>C (p.Lys282Asn)
c.858A>C (p.Lys286Asn)
c.164+199A>C
n.457A>C
c.966A>C (p.Lys322Asn)
c.954A>C (p.Lys318Asn)
c.747A>C (p.Lys249Asn)
c.651A>C (p.Lys217Asn)
c.531A>C (p.Lys177Asn)
c.141A>C (p.Lys47Asn)
5g.139379758T>ACA361139705SLC23A1c.845A>T (p.Lys282Ile)
c.857A>T (p.Lys286Ile)
c.164+198A>T
n.456A>T
c.965A>T (p.Lys322Ile)
c.953A>T (p.Lys318Ile)
c.746A>T (p.Lys249Ile)
c.650A>T (p.Lys217Ile)
c.530A>T (p.Lys177Ile)
c.140A>T (p.Lys47Ile)
5g.139379758T>CCA361139706SLC23A1c.845A>G (p.Lys282Arg)
c.857A>G (p.Lys286Arg)
c.164+198A>G
n.456A>G
c.965A>G (p.Lys322Arg)
c.953A>G (p.Lys318Arg)
c.746A>G (p.Lys249Arg)
c.650A>G (p.Lys217Arg)
c.530A>G (p.Lys177Arg)
c.140A>G (p.Lys47Arg)
5g.139379758T>GCA361139707SLC23A1c.845A>C (p.Lys282Thr)
c.857A>C (p.Lys286Thr)
c.164+198A>C
n.456A>C
c.965A>C (p.Lys322Thr)
c.953A>C (p.Lys318Thr)
c.746A>C (p.Lys249Thr)
c.650A>C (p.Lys217Thr)
c.530A>C (p.Lys177Thr)
c.140A>C (p.Lys47Thr)
5g.139379759T>ACA361139708SLC23A1c.844A>T (p.Lys282Ter)
c.856A>T (p.Lys286Ter)
c.164+197A>T
n.455A>T
c.964A>T (p.Lys322Ter)
c.952A>T (p.Lys318Ter)
c.745A>T (p.Lys249Ter)
c.649A>T (p.Lys217Ter)
c.529A>T (p.Lys177Ter)
c.139A>T (p.Lys47Ter)
5g.139379759T>CCA361139709SLC23A1c.844A>G (p.Lys282Glu)
c.856A>G (p.Lys286Glu)
c.164+197A>G
n.455A>G
c.964A>G (p.Lys322Glu)
c.952A>G (p.Lys318Glu)
c.745A>G (p.Lys249Glu)
c.649A>G (p.Lys217Glu)
c.529A>G (p.Lys177Glu)
c.139A>G (p.Lys47Glu)
5g.139379759T>GCA361139710SLC23A1c.844A>C (p.Lys282Gln)
c.856A>C (p.Lys286Gln)
c.164+197A>C
n.455A>C
c.964A>C (p.Lys322Gln)
c.952A>C (p.Lys318Gln)
c.745A>C (p.Lys249Gln)
c.649A>C (p.Lys217Gln)
c.529A>C (p.Lys177Gln)
c.139A>C (p.Lys47Gln)
5g.139379760T>ACA446793991SLC23A1c.843A>T (p.Pro281=)
c.855A>T (p.Pro285=)
c.164+196A>T
n.454A>T
c.963A>T (p.Pro321=)
c.951A>T (p.Pro317=)
c.744A>T (p.Pro248=)
c.648A>T (p.Pro216=)
c.528A>T (p.Pro176=)
c.138A>T (p.Pro46=)
5g.139379760T>CCA446793993SLC23A1c.843A>G (p.Pro281=)
c.855A>G (p.Pro285=)
c.164+196A>G
n.454A>G
c.963A>G (p.Pro321=)
c.951A>G (p.Pro317=)
c.744A>G (p.Pro248=)
c.648A>G (p.Pro216=)
c.528A>G (p.Pro176=)
c.138A>G (p.Pro46=)
5g.139379760T>GCA446793995SLC23A1c.843A>C (p.Pro281=)
c.855A>C (p.Pro285=)
c.164+196A>C
n.454A>C
c.963A>C (p.Pro321=)
c.951A>C (p.Pro317=)
c.744A>C (p.Pro248=)
c.648A>C (p.Pro216=)
c.528A>C (p.Pro176=)
c.138A>C (p.Pro46=)
5g.139379761G>ACA361139718SLC23A1c.842C>T (p.Pro281Leu)
c.854C>T (p.Pro285Leu)
c.164+195C>T
n.453C>T
c.962C>T (p.Pro321Leu)
c.950C>T (p.Pro317Leu)
c.743C>T (p.Pro248Leu)
c.647C>T (p.Pro216Leu)
c.527C>T (p.Pro176Leu)
c.137C>T (p.Pro46Leu)
5g.139379761G>CCA361139716SLC23A1c.842C>G (p.Pro281Arg)
c.854C>G (p.Pro285Arg)
c.164+195C>G
n.453C>G
c.962C>G (p.Pro321Arg)
c.950C>G (p.Pro317Arg)
c.743C>G (p.Pro248Arg)
c.647C>G (p.Pro216Arg)
c.527C>G (p.Pro176Arg)
c.137C>G (p.Pro46Arg)
5g.139379761G>TCA361139713SLC23A1c.842C>A (p.Pro281Gln)
c.854C>A (p.Pro285Gln)
c.164+195C>A
n.453C>A
c.962C>A (p.Pro321Gln)
c.950C>A (p.Pro317Gln)
c.743C>A (p.Pro248Gln)
c.647C>A (p.Pro216Gln)
c.527C>A (p.Pro176Gln)
c.137C>A (p.Pro46Gln)
5g.139379762G>ACA361139722SLC23A1c.841C>T (p.Pro281Ser)
c.853C>T (p.Pro285Ser)
c.164+194C>T
n.452C>T
c.961C>T (p.Pro321Ser)
c.949C>T (p.Pro317Ser)
c.742C>T (p.Pro248Ser)
c.646C>T (p.Pro216Ser)
c.526C>T (p.Pro176Ser)
c.136C>T (p.Pro46Ser)
 dbSNP gnomAD v4
5g.139379762G>CCA361139724SLC23A1c.841C>G (p.Pro281Ala)
c.853C>G (p.Pro285Ala)
c.164+194C>G
n.452C>G
c.961C>G (p.Pro321Ala)
c.949C>G (p.Pro317Ala)
c.742C>G (p.Pro248Ala)
c.646C>G (p.Pro216Ala)
c.526C>G (p.Pro176Ala)
c.136C>G (p.Pro46Ala)
5g.139379762G=CA1586303722SLC23A1c.841C= (p.Pro281=)
c.853C= (p.Pro285=)
c.164+194C=
n.452C=
c.961C= (p.Pro321=)
c.949C= (p.Pro317=)
c.742C= (p.Pro248=)
c.646C= (p.Pro216=)
c.526C= (p.Pro176=)
c.136C= (p.Pro46=)
5g.139379762G>TCA361139726SLC23A1c.841C>A (p.Pro281Thr)
c.853C>A (p.Pro285Thr)
c.164+194C>A
n.452C>A
c.961C>A (p.Pro321Thr)
c.949C>A (p.Pro317Thr)
c.742C>A (p.Pro248Thr)
c.646C>A (p.Pro216Thr)
c.526C>A (p.Pro176Thr)
c.136C>A (p.Pro46Thr)
5g.139379763G>ACA3434036SLC23A1c.840C>T (p.Asp280=)
c.852C>T (p.Asp284=)
c.164+193C>T
n.451C>T
c.960C>T (p.Asp320=)
c.948C>T (p.Asp316=)
c.741C>T (p.Asp247=)
c.645C>T (p.Asp215=)
c.525C>T (p.Asp175=)
c.135C>T (p.Asp45=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139379763G>CCA361139730SLC23A1c.840C>G (p.Asp280Glu)
c.852C>G (p.Asp284Glu)
c.164+193C>G
n.451C>G
c.960C>G (p.Asp320Glu)
c.948C>G (p.Asp316Glu)
c.741C>G (p.Asp247Glu)
c.645C>G (p.Asp215Glu)
c.525C>G (p.Asp175Glu)
c.135C>G (p.Asp45Glu)
5g.139379763G=CA1586303725SLC23A1c.840C= (p.Asp280=)
c.852C= (p.Asp284=)
c.164+193C=
n.451C=
c.960C= (p.Asp320=)
c.948C= (p.Asp316=)
c.741C= (p.Asp247=)
c.645C= (p.Asp215=)
c.525C= (p.Asp175=)
c.135C= (p.Asp45=)
5g.139379763G>TCA361139732SLC23A1c.840C>A (p.Asp280Glu)
c.852C>A (p.Asp284Glu)
c.164+193C>A
n.451C>A
c.960C>A (p.Asp320Glu)
c.948C>A (p.Asp316Glu)
c.741C>A (p.Asp247Glu)
c.645C>A (p.Asp215Glu)
c.525C>A (p.Asp175Glu)
c.135C>A (p.Asp45Glu)
5g.139379764T>ACA361139740SLC23A1c.839A>T (p.Asp280Val)
c.851A>T (p.Asp284Val)
c.164+192A>T
n.450A>T
c.959A>T (p.Asp320Val)
c.947A>T (p.Asp316Val)
c.740A>T (p.Asp247Val)
c.644A>T (p.Asp215Val)
c.524A>T (p.Asp175Val)
c.134A>T (p.Asp45Val)
5g.139379764T>CCA361139737SLC23A1c.839A>G (p.Asp280Gly)
c.851A>G (p.Asp284Gly)
c.164+192A>G
n.450A>G
c.959A>G (p.Asp320Gly)
c.947A>G (p.Asp316Gly)
c.740A>G (p.Asp247Gly)
c.644A>G (p.Asp215Gly)
c.524A>G (p.Asp175Gly)
c.134A>G (p.Asp45Gly)
5g.139379764T>GCA361139736SLC23A1c.839A>C (p.Asp280Ala)
c.851A>C (p.Asp284Ala)
c.164+192A>C
n.450A>C
c.959A>C (p.Asp320Ala)
c.947A>C (p.Asp316Ala)
c.740A>C (p.Asp247Ala)
c.644A>C (p.Asp215Ala)
c.524A>C (p.Asp175Ala)
c.134A>C (p.Asp45Ala)
5g.139379765C>ACA361139743SLC23A1c.838G>T (p.Asp280Tyr)
c.850G>T (p.Asp284Tyr)
c.164+191G>T
n.449G>T
c.958G>T (p.Asp320Tyr)
c.946G>T (p.Asp316Tyr)
c.739G>T (p.Asp247Tyr)
c.643G>T (p.Asp215Tyr)
c.523G>T (p.Asp175Tyr)
c.133G>T (p.Asp45Tyr)
5g.139379765C>GCA361139745SLC23A1c.838G>C (p.Asp280His)
c.850G>C (p.Asp284His)
c.164+191G>C
n.449G>C
c.958G>C (p.Asp320His)
c.946G>C (p.Asp316His)
c.739G>C (p.Asp247His)
c.643G>C (p.Asp215His)
c.523G>C (p.Asp175His)
c.133G>C (p.Asp45His)
5g.139379765C>TCA361139747SLC23A1c.838G>A (p.Asp280Asn)
c.850G>A (p.Asp284Asn)
c.164+191G>A
n.449G>A
c.958G>A (p.Asp320Asn)
c.946G>A (p.Asp316Asn)
c.739G>A (p.Asp247Asn)
c.643G>A (p.Asp215Asn)
c.523G>A (p.Asp175Asn)
c.133G>A (p.Asp45Asn)
 COSMIC
5g.139379766T>ACA446793999SLC23A1c.837A>T (p.Thr279=)
c.849A>T (p.Thr283=)
c.164+190A>T
n.448A>T
c.957A>T (p.Thr319=)
c.945A>T (p.Thr315=)
c.738A>T (p.Thr246=)
c.642A>T (p.Thr214=)
c.522A>T (p.Thr174=)
c.132A>T (p.Thr44=)
5g.139379766T>CCA446794001SLC23A1c.837A>G (p.Thr279=)
c.849A>G (p.Thr283=)
c.164+190A>G
n.448A>G
c.957A>G (p.Thr319=)
c.945A>G (p.Thr315=)
c.738A>G (p.Thr246=)
c.642A>G (p.Thr214=)
c.522A>G (p.Thr174=)
c.132A>G (p.Thr44=)
5g.139379766T>GCA446793998SLC23A1c.837A>C (p.Thr279=)
c.849A>C (p.Thr283=)
c.164+190A>C
n.448A>C
c.957A>C (p.Thr319=)
c.945A>C (p.Thr315=)
c.738A>C (p.Thr246=)
c.642A>C (p.Thr214=)
c.522A>C (p.Thr174=)
c.132A>C (p.Thr44=)
5g.139379767G>ACA361139749SLC23A1c.836C>T (p.Thr279Ile)
c.848C>T (p.Thr283Ile)
c.164+189C>T
n.447C>T
c.956C>T (p.Thr319Ile)
c.944C>T (p.Thr315Ile)
c.737C>T (p.Thr246Ile)
c.641C>T (p.Thr214Ile)
c.521C>T (p.Thr174Ile)
c.131C>T (p.Thr44Ile)
 gnomAD v4
5g.139379767G>CCA361139756SLC23A1c.836C>G (p.Thr279Arg)
c.848C>G (p.Thr283Arg)
c.164+189C>G
n.447C>G
c.956C>G (p.Thr319Arg)
c.944C>G (p.Thr315Arg)
c.737C>G (p.Thr246Arg)
c.641C>G (p.Thr214Arg)
c.521C>G (p.Thr174Arg)
c.131C>G (p.Thr44Arg)
5g.139379767G>TCA361139758SLC23A1c.836C>A (p.Thr279Lys)
c.848C>A (p.Thr283Lys)
c.164+189C>A
n.447C>A
c.956C>A (p.Thr319Lys)
c.944C>A (p.Thr315Lys)
c.737C>A (p.Thr246Lys)
c.641C>A (p.Thr214Lys)
c.521C>A (p.Thr174Lys)
c.131C>A (p.Thr44Lys)
5g.139379768T>ACA361139762SLC23A1c.835A>T (p.Thr279Ser)
c.847A>T (p.Thr283Ser)
c.164+188A>T
n.446A>T
c.955A>T (p.Thr319Ser)
c.943A>T (p.Thr315Ser)
c.736A>T (p.Thr246Ser)
c.640A>T (p.Thr214Ser)
c.520A>T (p.Thr174Ser)
c.130A>T (p.Thr44Ser)
5g.139379768T>CCA361139766SLC23A1c.835A>G (p.Thr279Ala)
c.847A>G (p.Thr283Ala)
c.164+188A>G
n.446A>G
c.955A>G (p.Thr319Ala)
c.943A>G (p.Thr315Ala)
c.736A>G (p.Thr246Ala)
c.640A>G (p.Thr214Ala)
c.520A>G (p.Thr174Ala)
c.130A>G (p.Thr44Ala)
5g.139379768T>GCA361139764SLC23A1c.835A>C (p.Thr279Pro)
c.847A>C (p.Thr283Pro)
c.164+188A>C
n.446A>C
c.955A>C (p.Thr319Pro)
c.943A>C (p.Thr315Pro)
c.736A>C (p.Thr246Pro)
c.640A>C (p.Thr214Pro)
c.520A>C (p.Thr174Pro)
c.130A>C (p.Thr44Pro)
5g.139379769G>ACA446794005SLC23A1c.834C>T (p.Pro278=)
c.846C>T (p.Pro282=)
c.164+187C>T
n.445C>T
c.954C>T (p.Pro318=)
c.942C>T (p.Pro314=)
c.735C>T (p.Pro245=)
c.639C>T (p.Pro213=)
c.519C>T (p.Pro173=)
c.129C>T (p.Pro43=)
5g.139379769G>CCA446794006SLC23A1c.834C>G (p.Pro278=)
c.846C>G (p.Pro282=)
c.164+187C>G
n.445C>G
c.954C>G (p.Pro318=)
c.942C>G (p.Pro314=)
c.735C>G (p.Pro245=)
c.639C>G (p.Pro213=)
c.519C>G (p.Pro173=)
c.129C>G (p.Pro43=)
5g.139379769G>TCA446794007SLC23A1c.834C>A (p.Pro278=)
c.846C>A (p.Pro282=)
c.164+187C>A
n.445C>A
c.954C>A (p.Pro318=)
c.942C>A (p.Pro314=)
c.735C>A (p.Pro245=)
c.639C>A (p.Pro213=)
c.519C>A (p.Pro173=)
c.129C>A (p.Pro43=)
5g.139379770G>ACA361139769SLC23A1c.833C>T (p.Pro278Leu)
c.845C>T (p.Pro282Leu)
c.164+186C>T
n.444C>T
c.953C>T (p.Pro318Leu)
c.941C>T (p.Pro314Leu)
c.734C>T (p.Pro245Leu)
c.638C>T (p.Pro213Leu)
c.518C>T (p.Pro173Leu)
c.128C>T (p.Pro43Leu)
 COSMIC
5g.139379770G>CCA361139771SLC23A1c.833C>G (p.Pro278Arg)
c.845C>G (p.Pro282Arg)
c.164+186C>G
n.444C>G
c.953C>G (p.Pro318Arg)
c.941C>G (p.Pro314Arg)
c.734C>G (p.Pro245Arg)
c.638C>G (p.Pro213Arg)
c.518C>G (p.Pro173Arg)
c.128C>G (p.Pro43Arg)
5g.139379770G>TCA361139773SLC23A1c.833C>A (p.Pro278His)
c.845C>A (p.Pro282His)
c.164+186C>A
n.444C>A
c.953C>A (p.Pro318His)
c.941C>A (p.Pro314His)
c.734C>A (p.Pro245His)
c.638C>A (p.Pro213His)
c.518C>A (p.Pro173His)
c.128C>A (p.Pro43His)
 COSMIC
5g.139379771G>ACA361139777SLC23A1c.832C>T (p.Pro278Ser)
c.844C>T (p.Pro282Ser)
c.164+185C>T
n.443C>T
c.952C>T (p.Pro318Ser)
c.940C>T (p.Pro314Ser)
c.733C>T (p.Pro245Ser)
c.637C>T (p.Pro213Ser)
c.517C>T (p.Pro173Ser)
c.127C>T (p.Pro43Ser)
5g.139379771G>CCA361139779SLC23A1c.832C>G (p.Pro278Ala)
c.844C>G (p.Pro282Ala)
c.164+185C>G
n.443C>G
c.952C>G (p.Pro318Ala)
c.940C>G (p.Pro314Ala)
c.733C>G (p.Pro245Ala)
c.637C>G (p.Pro213Ala)
c.517C>G (p.Pro173Ala)
c.127C>G (p.Pro43Ala)
5g.139379771G>TCA361139781SLC23A1c.832C>A (p.Pro278Thr)
c.844C>A (p.Pro282Thr)
c.164+185C>A
n.443C>A
c.952C>A (p.Pro318Thr)
c.940C>A (p.Pro314Thr)
c.733C>A (p.Pro245Thr)
c.637C>A (p.Pro213Thr)
c.517C>A (p.Pro173Thr)
c.127C>A (p.Pro43Thr)
5g.139379772C>ACA446794012SLC23A1c.831G>T (p.Leu277=)
c.843G>T (p.Leu281=)
c.164+184G>T
n.442G>T
c.951G>T (p.Leu317=)
c.939G>T (p.Leu313=)
c.732G>T (p.Leu244=)
c.636G>T (p.Leu212=)
c.516G>T (p.Leu172=)
c.126G>T (p.Leu42=)
5g.139379772C=CA1586303729SLC23A1c.831G= (p.Leu277=)
c.843G= (p.Leu281=)
c.164+184G=
n.442G=
c.951G= (p.Leu317=)
c.939G= (p.Leu313=)
c.732G= (p.Leu244=)
c.636G= (p.Leu212=)
c.516G= (p.Leu172=)
c.126G= (p.Leu42=)
5g.139379772C>GCA446794013SLC23A1c.831G>C (p.Leu277=)
c.843G>C (p.Leu281=)
c.164+184G>C
n.442G>C
c.951G>C (p.Leu317=)
c.939G>C (p.Leu313=)
c.732G>C (p.Leu244=)
c.636G>C (p.Leu212=)
c.516G>C (p.Leu172=)
c.126G>C (p.Leu42=)
5g.139379772C>TCA128242452SLC23A1c.831G>A (p.Leu277=)
c.843G>A (p.Leu281=)
c.164+184G>A
n.442G>A
c.951G>A (p.Leu317=)
c.939G>A (p.Leu313=)
c.732G>A (p.Leu244=)
c.636G>A (p.Leu212=)
c.516G>A (p.Leu172=)
c.126G>A (p.Leu42=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139379773A>CCA361139787SLC23A1c.830T>G (p.Leu277Arg)
c.842T>G (p.Leu281Arg)
c.164+183T>G
n.441T>G
c.950T>G (p.Leu317Arg)
c.938T>G (p.Leu313Arg)
c.731T>G (p.Leu244Arg)
c.635T>G (p.Leu212Arg)
c.515T>G (p.Leu172Arg)
c.125T>G (p.Leu42Arg)
5g.139379773A>GCA361139789SLC23A1c.830T>C (p.Leu277Pro)
c.842T>C (p.Leu281Pro)
c.164+183T>C
n.441T>C
c.950T>C (p.Leu317Pro)
c.938T>C (p.Leu313Pro)
c.731T>C (p.Leu244Pro)
c.635T>C (p.Leu212Pro)
c.515T>C (p.Leu172Pro)
c.125T>C (p.Leu42Pro)
5g.139379773A>TCA361139791SLC23A1c.830T>A (p.Leu277Gln)
c.842T>A (p.Leu281Gln)
c.164+183T>A
n.441T>A
c.950T>A (p.Leu317Gln)
c.938T>A (p.Leu313Gln)
c.731T>A (p.Leu244Gln)
c.635T>A (p.Leu212Gln)
c.515T>A (p.Leu172Gln)
c.125T>A (p.Leu42Gln)
5g.139379774G>ACA446794014SLC23A1c.829C>T (p.Leu277=)
c.841C>T (p.Leu281=)
c.164+182C>T
n.440C>T
c.949C>T (p.Leu317=)
c.937C>T (p.Leu313=)
c.730C>T (p.Leu244=)
c.634C>T (p.Leu212=)
c.514C>T (p.Leu172=)
c.124C>T (p.Leu42=)
5g.139379774G>CCA361139793SLC23A1c.829C>G (p.Leu277Val)
c.841C>G (p.Leu281Val)
c.164+182C>G
n.440C>G
c.949C>G (p.Leu317Val)
c.937C>G (p.Leu313Val)
c.730C>G (p.Leu244Val)
c.634C>G (p.Leu212Val)
c.514C>G (p.Leu172Val)
c.124C>G (p.Leu42Val)
5g.139379774G>TCA361139795SLC23A1c.829C>A (p.Leu277Met)
c.841C>A (p.Leu281Met)
c.164+182C>A
n.440C>A
c.949C>A (p.Leu317Met)
c.937C>A (p.Leu313Met)
c.730C>A (p.Leu244Met)
c.634C>A (p.Leu212Met)
c.514C>A (p.Leu172Met)
c.124C>A (p.Leu42Met)
5g.139379775C>ACA446794017SLC23A1c.828G>T (p.Val276=)
c.840G>T (p.Val280=)
c.164+181G>T
n.439G>T
c.948G>T (p.Val316=)
c.936G>T (p.Val312=)
c.729G>T (p.Val243=)
c.633G>T (p.Val211=)
c.513G>T (p.Val171=)
c.123G>T (p.Val41=)
5g.139379775C>GCA446794018SLC23A1c.828G>C (p.Val276=)
c.840G>C (p.Val280=)
c.164+181G>C
n.439G>C
c.948G>C (p.Val316=)
c.936G>C (p.Val312=)
c.729G>C (p.Val243=)
c.633G>C (p.Val211=)
c.513G>C (p.Val171=)
c.123G>C (p.Val41=)
5g.139379775C>TCA446794019SLC23A1c.828G>A (p.Val276=)
c.840G>A (p.Val280=)
c.164+181G>A
n.439G>A
c.948G>A (p.Val316=)
c.936G>A (p.Val312=)
c.729G>A (p.Val243=)
c.633G>A (p.Val211=)
c.513G>A (p.Val171=)
c.123G>A (p.Val41=)
5g.139379776A>CCA361139799SLC23A1c.827T>G (p.Val276Gly)
c.839T>G (p.Val280Gly)
c.164+180T>G
n.438T>G
c.947T>G (p.Val316Gly)
c.935T>G (p.Val312Gly)
c.728T>G (p.Val243Gly)
c.632T>G (p.Val211Gly)
c.512T>G (p.Val171Gly)
c.122T>G (p.Val41Gly)
5g.139379776A>GCA361139801SLC23A1c.827T>C (p.Val276Ala)
c.839T>C (p.Val280Ala)
c.164+180T>C
n.438T>C
c.947T>C (p.Val316Ala)
c.935T>C (p.Val312Ala)
c.728T>C (p.Val243Ala)
c.632T>C (p.Val211Ala)
c.512T>C (p.Val171Ala)
c.122T>C (p.Val41Ala)
5g.139379776A>TCA361139798SLC23A1c.827T>A (p.Val276Glu)
c.839T>A (p.Val280Glu)
c.164+180T>A
n.438T>A
c.947T>A (p.Val316Glu)
c.935T>A (p.Val312Glu)
c.728T>A (p.Val243Glu)
c.632T>A (p.Val211Glu)
c.512T>A (p.Val171Glu)
c.122T>A (p.Val41Glu)
5g.139379777C>ACA361139806SLC23A1c.826G>T (p.Val276Leu)
c.838G>T (p.Val280Leu)
c.164+179G>T
n.437G>T
c.946G>T (p.Val316Leu)
c.934G>T (p.Val312Leu)
c.727G>T (p.Val243Leu)
c.631G>T (p.Val211Leu)
c.511G>T (p.Val171Leu)
c.121G>T (p.Val41Leu)
5g.139379777C=CA1586303731SLC23A1c.826G= (p.Val276=)
c.838G= (p.Val280=)
c.164+179G=
n.437G=
c.946G= (p.Val316=)
c.934G= (p.Val312=)
c.727G= (p.Val243=)
c.631G= (p.Val211=)
c.511G= (p.Val171=)
c.121G= (p.Val41=)
5g.139379777C>GCA361139803SLC23A1c.826G>C (p.Val276Leu)
c.838G>C (p.Val280Leu)
c.164+179G>C
n.437G>C
c.946G>C (p.Val316Leu)
c.934G>C (p.Val312Leu)
c.727G>C (p.Val243Leu)
c.631G>C (p.Val211Leu)
c.511G>C (p.Val171Leu)
c.121G>C (p.Val41Leu)
5g.139379777C>TCA3434037SLC23A1c.826G>A (p.Val276Met)
c.838G>A (p.Val280Met)
c.164+179G>A
n.437G>A
c.946G>A (p.Val316Met)
c.934G>A (p.Val312Met)
c.727G>A (p.Val243Met)
c.631G>A (p.Val211Met)
c.511G>A (p.Val171Met)
c.121G>A (p.Val41Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.139379777_139379778insCCCTTGCA2554083802SLC23A1c.825_826insCAAGGG (p.Asp275_Val276insGlnGly)
c.837_838insCAAGGG (p.Asp279_Val280insGlnGly)
c.164+178_164+179insCAAGGG
n.436_437insCAAGGG
c.945_946insCAAGGG (p.Asp315_Val316insGlnGly)
c.933_934insCAAGGG (p.Asp311_Val312insGlnGly)
c.726_727insCAAGGG (p.Asp242_Val243insGlnGly)
c.630_631insCAAGGG (p.Asp210_Val211insGlnGly)
c.510_511insCAAGGG (p.Asp170_Val171insGlnGly)
c.120_121insCAAGGG (p.Asp40_Val41insGlnGly)
5g.139379778G>ACA3434038SLC23A1c.825C>T (p.Asp275=)
c.837C>T (p.Asp279=)
c.164+178C>T
n.436C>T
c.945C>T (p.Asp315=)
c.933C>T (p.Asp311=)
c.726C>T (p.Asp242=)
c.630C>T (p.Asp210=)
c.510C>T (p.Asp170=)
c.120C>T (p.Asp40=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.139379778G>CCA361139813SLC23A1c.825C>G (p.Asp275Glu)
c.837C>G (p.Asp279Glu)
c.164+178C>G
n.436C>G
c.945C>G (p.Asp315Glu)
c.933C>G (p.Asp311Glu)
c.726C>G (p.Asp242Glu)
c.630C>G (p.Asp210Glu)
c.510C>G (p.Asp170Glu)
c.120C>G (p.Asp40Glu)
5g.139379778G=CA1586303735SLC23A1c.825C= (p.Asp275=)
c.837C= (p.Asp279=)
c.164+178C=
n.436C=
c.945C= (p.Asp315=)
c.933C= (p.Asp311=)
c.726C= (p.Asp242=)
c.630C= (p.Asp210=)
c.510C= (p.Asp170=)
c.120C= (p.Asp40=)
5g.139379778G>TCA361139811SLC23A1c.825C>A (p.Asp275Glu)
c.837C>A (p.Asp279Glu)
c.164+178C>A
n.436C>A
c.945C>A (p.Asp315Glu)
c.933C>A (p.Asp311Glu)
c.726C>A (p.Asp242Glu)
c.630C>A (p.Asp210Glu)
c.510C>A (p.Asp170Glu)
c.120C>A (p.Asp40Glu)
5g.139379779T>ACA361139815SLC23A1c.824A>T (p.Asp275Val)
c.836A>T (p.Asp279Val)
c.164+177A>T
n.435A>T
c.944A>T (p.Asp315Val)
c.932A>T (p.Asp311Val)
c.725A>T (p.Asp242Val)
c.629A>T (p.Asp210Val)
c.509A>T (p.Asp170Val)
c.119A>T (p.Asp40Val)
 gnomAD v4
5g.139379779T>CCA361139816SLC23A1c.824A>G (p.Asp275Gly)
c.836A>G (p.Asp279Gly)
c.164+177A>G
n.435A>G
c.944A>G (p.Asp315Gly)
c.932A>G (p.Asp311Gly)
c.725A>G (p.Asp242Gly)
c.629A>G (p.Asp210Gly)
c.509A>G (p.Asp170Gly)
c.119A>G (p.Asp40Gly)
 gnomAD v4
5g.139379779T>GCA361139817SLC23A1c.824A>C (p.Asp275Ala)
c.836A>C (p.Asp279Ala)
c.164+177A>C
n.435A>C
c.944A>C (p.Asp315Ala)
c.932A>C (p.Asp311Ala)
c.725A>C (p.Asp242Ala)
c.629A>C (p.Asp210Ala)
c.509A>C (p.Asp170Ala)
c.119A>C (p.Asp40Ala)
5g.139379780C>ACA361139818SLC23A1c.823G>T (p.Asp275Tyr)
c.835G>T (p.Asp279Tyr)
c.164+176G>T
n.434G>T
c.943G>T (p.Asp315Tyr)
c.931G>T (p.Asp311Tyr)
c.724G>T (p.Asp242Tyr)
c.628G>T (p.Asp210Tyr)
c.508G>T (p.Asp170Tyr)
c.118G>T (p.Asp40Tyr)
5g.139379780C>GCA361139819SLC23A1c.823G>C (p.Asp275His)
c.835G>C (p.Asp279His)
c.164+176G>C
n.434G>C
c.943G>C (p.Asp315His)
c.931G>C (p.Asp311His)
c.724G>C (p.Asp242His)
c.628G>C (p.Asp210His)
c.508G>C (p.Asp170His)
c.118G>C (p.Asp40His)
5g.139379780C>TCA361139820SLC23A1c.823G>A (p.Asp275Asn)
c.835G>A (p.Asp279Asn)
c.164+176G>A
n.434G>A
c.943G>A (p.Asp315Asn)
c.931G>A (p.Asp311Asn)
c.724G>A (p.Asp242Asn)
c.628G>A (p.Asp210Asn)
c.508G>A (p.Asp170Asn)
c.118G>A (p.Asp40Asn)

Number of alleles fetched