Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132340641C>ACA360813225MIR3936HG,SLC22A4c.1521C>A (p.Phe507Leu)
n.561-5715G>T
c.993C>A (p.Phe331Leu)
c.1245C>A (p.Phe415Leu)
5g.132340641C>GCA360813226MIR3936HG,SLC22A4c.1521C>G (p.Phe507Leu)
n.561-5715G>C
c.993C>G (p.Phe331Leu)
c.1245C>G (p.Phe415Leu)
5g.132340641C>TCA446340408MIR3936HG,SLC22A4c.1521C>T (p.Phe507=)
n.561-5715G>A
c.993C>T (p.Phe331=)
c.1245C>T (p.Phe415=)
5g.132340643dupCA2768422476MIR3936HG,SLC22A4c.1523dup (p.Glu509Ter)
n.561-5715dup
c.995dup (p.Glu333Ter)
c.1247dup (p.Glu417Ter)
5g.132340643delCA2675193389MIR3936HG,SLC22A4c.1523del (p.Pro508LeufsTer6)
n.561-5715del
c.995del (p.Pro332LeufsTer6)
c.1247del (p.Pro416LeufsTer6)
gnomAD v4
5g.132340641_132340649delCA2768422477MIR3936HG,SLC22A4c.1521_1529del (p.Pro508_Ser510del)
n.561-5723_561-5715del
c.993_1001del (p.Pro332_Ser334del)
c.1245_1253del (p.Pro416_Ser418del)
5g.132340642C>ACA360813228MIR3936HG,SLC22A4c.1522C>A (p.Pro508Thr)
n.561-5716G>T
c.994C>A (p.Pro332Thr)
c.1246C>A (p.Pro416Thr)
5g.132340642C=CA1583125037MIR3936HG,SLC22A4c.1522C= (p.Pro508=)
n.561-5716G=
c.994C= (p.Pro332=)
c.1246C= (p.Pro416=)
5g.132340642C>GCA360813230MIR3936HG,SLC22A4c.1522C>G (p.Pro508Ala)
n.561-5716G>C
c.994C>G (p.Pro332Ala)
c.1246C>G (p.Pro416Ala)
5g.132340642C>TCA360813231MIR3936HG,SLC22A4c.1522C>T (p.Pro508Ser)
n.561-5716G>A
c.994C>T (p.Pro332Ser)
c.1246C>T (p.Pro416Ser)
dbSNP gnomAD v2 gnomAD v4
5g.132340643C>ACA360813232MIR3936HG,SLC22A4c.1523C>A (p.Pro508His)
n.561-5717G>T
c.995C>A (p.Pro332His)
c.1247C>A (p.Pro416His)
gnomAD v4
5g.132340643C>GCA360813237MIR3936HG,SLC22A4c.1523C>G (p.Pro508Arg)
n.561-5717G>C
c.995C>G (p.Pro332Arg)
c.1247C>G (p.Pro416Arg)
5g.132340643C>TCA360813241MIR3936HG,SLC22A4c.1523C>T (p.Pro508Leu)
n.561-5717G>A
c.995C>T (p.Pro332Leu)
c.1247C>T (p.Pro416Leu)
5g.132340644delCA2675193390MIR3936HG,SLC22A4c.1524del (p.Glu509LysfsTer5)
n.561-5718del
c.996del (p.Glu333LysfsTer5)
c.1248del (p.Glu417LysfsTer5)
gnomAD v4
5g.132340644T>ACA446340417MIR3936HG,SLC22A4c.1524T>A (p.Pro508=)
n.561-5718A>T
c.996T>A (p.Pro332=)
c.1248T>A (p.Pro416=)
5g.132340644T>CCA446340428MIR3936HG,SLC22A4c.1524T>C (p.Pro508=)
n.561-5718A>G
c.996T>C (p.Pro332=)
c.1248T>C (p.Pro416=)
5g.132340644T>GCA446340431MIR3936HG,SLC22A4c.1524T>G (p.Pro508=)
n.561-5718A>C
c.996T>G (p.Pro332=)
c.1248T>G (p.Pro416=)
5g.132340645delCA2578401906MIR3936HG,SLC22A4c.1525del (p.Glu509LysfsTer5)
n.561-5719del
c.997del (p.Glu333LysfsTer5)
c.1249del (p.Glu417LysfsTer5)
5g.132340645G>ACA360813244MIR3936HG,SLC22A4c.1525G>A (p.Glu509Lys)
n.561-5719C>T
c.997G>A (p.Glu333Lys)
c.1249G>A (p.Glu417Lys)
5g.132340645G>CCA360813247MIR3936HG,SLC22A4c.1525G>C (p.Glu509Gln)
n.561-5719C>G
c.997G>C (p.Glu333Gln)
c.1249G>C (p.Glu417Gln)
gnomAD v4
5g.132340645G>TCA360813250MIR3936HG,SLC22A4c.1525G>T (p.Glu509Ter)
n.561-5719C>A
c.997G>T (p.Glu333Ter)
c.1249G>T (p.Glu417Ter)
5g.132340646A=CA1583125038MIR3936HG,SLC22A4c.1526A= (p.Glu509=)
n.561-5720T=
c.998A= (p.Glu333=)
c.1250A= (p.Glu417=)
5g.132340646A>CCA360813253MIR3936HG,SLC22A4c.1526A>C (p.Glu509Ala)
n.561-5720T>G
c.998A>C (p.Glu333Ala)
c.1250A>C (p.Glu417Ala)
5g.132340646A>GCA360813261MIR3936HG,SLC22A4c.1526A>G (p.Glu509Gly)
n.561-5720T>C
c.998A>G (p.Glu333Gly)
c.1250A>G (p.Glu417Gly)
5g.132340646A>TCA3403715MIR3936HG,SLC22A4c.1526A>T (p.Glu509Val)
n.561-5720T>A
c.998A>T (p.Glu333Val)
c.1250A>T (p.Glu417Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132340647A>CCA360813269MIR3936HG,SLC22A4c.1527A>C (p.Glu509Asp)
n.561-5721T>G
c.999A>C (p.Glu333Asp)
c.1251A>C (p.Glu417Asp)
5g.132340647A>GCA446340456MIR3936HG,SLC22A4c.1527A>G (p.Glu509=)
n.561-5721T>C
c.999A>G (p.Glu333=)
c.1251A>G (p.Glu417=)
5g.132340647A>TCA360813268MIR3936HG,SLC22A4c.1527A>T (p.Glu509Asp)
n.561-5721T>A
c.999A>T (p.Glu333Asp)
c.1251A>T (p.Glu417Asp)
5g.132340648A>CCA360813270MIR3936HG,SLC22A4c.1528A>C (p.Ser510Arg)
n.561-5722T>G
c.1000A>C (p.Ser334Arg)
c.1252A>C (p.Ser418Arg)
5g.132340648A>GCA360813271MIR3936HG,SLC22A4c.1528A>G (p.Ser510Gly)
n.561-5722T>C
c.1000A>G (p.Ser334Gly)
c.1252A>G (p.Ser418Gly)
5g.132340648A>TCA360813274MIR3936HG,SLC22A4c.1528A>T (p.Ser510Cys)
n.561-5722T>A
c.1000A>T (p.Ser334Cys)
c.1252A>T (p.Ser418Cys)
5g.132340649G>ACA360813276MIR3936HG,SLC22A4c.1529G>A (p.Ser510Asn)
n.561-5723C>T
c.1001G>A (p.Ser334Asn)
c.1253G>A (p.Ser418Asn)
5g.132340649G>CCA360813281MIR3936HG,SLC22A4c.1529G>C (p.Ser510Thr)
n.561-5723C>G
c.1001G>C (p.Ser334Thr)
c.1253G>C (p.Ser418Thr)
5g.132340649G=CA1583125039MIR3936HG,SLC22A4c.1529G= (p.Ser510=)
n.561-5723C=
c.1001G= (p.Ser334=)
c.1253G= (p.Ser418=)
5g.132340649G>TCA360813283MIR3936HG,SLC22A4c.1529G>T (p.Ser510Ile)
n.561-5723C>A
c.1001G>T (p.Ser334Ile)
c.1253G>T (p.Ser418Ile)
5g.132340650T>ACA360813284MIR3936HG,SLC22A4c.1530T>A (p.Ser510Arg)
n.561-5724A>T
c.1002T>A (p.Ser334Arg)
c.1254T>A (p.Ser418Arg)
5g.132340650T>CCA446340475MIR3936HG,SLC22A4c.1530T>C (p.Ser510=)
n.561-5724A>G
c.1002T>C (p.Ser334=)
c.1254T>C (p.Ser418=)
5g.132340650T>GCA360813285MIR3936HG,SLC22A4c.1530T>G (p.Ser510Arg)
n.561-5724A>C
c.1002T>G (p.Ser334Arg)
c.1254T>G (p.Ser418Arg)
5g.132340652_132340653insTTTTTCA2768422480MIR3936HG,SLC22A4c.1532_1533insTTTTT (p.Leu511PhefsTer5)
n.561-5724_561-5723insAAAAA
c.1004_1005insTTTTT (p.Leu335PhefsTer5)
c.1256_1257insTTTTT (p.Leu419PhefsTer5)
5g.132340652_132340653insTTTTTTTTCA2768422481MIR3936HG,SLC22A4c.1532_1533insTTTTTTTT (p.Leu511PhefsTer6)
n.561-5724_561-5723insAAAAAAAA
c.1004_1005insTTTTTTTT (p.Leu335PhefsTer6)
c.1256_1257insTTTTTTTT (p.Leu419PhefsTer6)
5g.132340652_132340653insTTTTTTTTTCA562764491MIR3936HG,SLC22A4c.1532_1533insTTTTTTTTT (p.Ser510_Leu511insPhePhePhe)
n.561-5724_561-5723insAAAAAAAAA
c.1004_1005insTTTTTTTTT (p.Ser334_Leu335insPhePhePhe)
c.1256_1257insTTTTTTTTT (p.Ser418_Leu419insPhePhePhe)
dbSNP gnomAD v2
5g.132340651T>ACA360813286MIR3936HG,SLC22A4c.1531T>A (p.Leu511Met)
n.561-5725A>T
c.1003T>A (p.Leu335Met)
c.1255T>A (p.Leu419Met)
5g.132340651T>CCA446340479MIR3936HG,SLC22A4c.1531T>C (p.Leu511=)
n.561-5725A>G
c.1003T>C (p.Leu335=)
c.1255T>C (p.Leu419=)
5g.132340651T>GCA360813287MIR3936HG,SLC22A4c.1531T>G (p.Leu511Val)
n.561-5725A>C
c.1003T>G (p.Leu335Val)
c.1255T>G (p.Leu419Val)
5g.132340652T>ACA360813290MIR3936HG,SLC22A4c.1532T>A (p.Leu511Ter)
n.561-5726A>T
c.1004T>A (p.Leu335Ter)
c.1256T>A (p.Leu419Ter)
5g.132340652T>CCA360813291MIR3936HG,SLC22A4c.1532T>C (p.Leu511Ser)
n.561-5726A>G
c.1004T>C (p.Leu335Ser)
c.1256T>C (p.Leu419Ser)
5g.132340652T>GCA360813296MIR3936HG,SLC22A4c.1532T>G (p.Leu511Trp)
n.561-5726A>C
c.1004T>G (p.Leu335Trp)
c.1256T>G (p.Leu419Trp)
5g.132340653G>ACA446340486MIR3936HG,SLC22A4c.1533G>A (p.Leu511=)
n.561-5727C>T
c.1005G>A (p.Leu335=)
c.1257G>A (p.Leu419=)
5g.132340653G>CCA360813299MIR3936HG,SLC22A4c.1533G>C (p.Leu511Phe)
n.561-5727C>G
c.1005G>C (p.Leu335Phe)
c.1257G>C (p.Leu419Phe)
5g.132340653G>TCA360813303MIR3936HG,SLC22A4c.1533G>T (p.Leu511Phe)
n.561-5727C>A
c.1005G>T (p.Leu335Phe)
c.1257G>T (p.Leu419Phe)
5g.132340654G>ACA360813304MIR3936HG,SLC22A4c.1534G>A (p.Gly512Arg)
n.561-5728C>T
c.1006G>A (p.Gly336Arg)
c.1258G>A (p.Gly420Arg)
dbSNP gnomAD v2 gnomAD v4
5g.132340654G>CCA360813309MIR3936HG,SLC22A4c.1534G>C (p.Gly512Arg)
n.561-5728C>G
c.1006G>C (p.Gly336Arg)
c.1258G>C (p.Gly420Arg)
dbSNP
5g.132340654G=CA1583125040MIR3936HG,SLC22A4c.1534G= (p.Gly512=)
n.561-5728C=
c.1006G= (p.Gly336=)
c.1258G= (p.Gly420=)
5g.132340654G>TCA360813306MIR3936HG,SLC22A4c.1534G>T (p.Gly512Ter)
n.561-5728C>A
c.1006G>T (p.Gly336Ter)
c.1258G>T (p.Gly420Ter)
5g.132340655G>ACA360813311MIR3936HG,SLC22A4c.1535G>A (p.Gly512Glu)
n.561-5729C>T
c.1007G>A (p.Gly336Glu)
c.1259G>A (p.Gly420Glu)
5g.132340655G>CCA360813312MIR3936HG,SLC22A4c.1535G>C (p.Gly512Ala)
n.561-5729C>G
c.1007G>C (p.Gly336Ala)
c.1259G>C (p.Gly420Ala)
5g.132340655G>TCA360813313MIR3936HG,SLC22A4c.1535G>T (p.Gly512Val)
n.561-5729C>A
c.1007G>T (p.Gly336Val)
c.1259G>T (p.Gly420Val)
5g.132340656A=CA1583125041MIR3936HG,SLC22A4c.1536A= (p.Gly512=)
n.561-5730T=
c.1008A= (p.Gly336=)
c.1260A= (p.Gly420=)
5g.132340656A>CCA446340507MIR3936HG,SLC22A4c.1536A>C (p.Gly512=)
n.561-5730T>G
c.1008A>C (p.Gly336=)
c.1260A>C (p.Gly420=)
5g.132340656A>GCA446340509MIR3936HG,SLC22A4c.1536A>G (p.Gly512=)
n.561-5730T>C
c.1008A>G (p.Gly336=)
c.1260A>G (p.Gly420=)
5g.132340656A>TCA446340511MIR3936HG,SLC22A4c.1536A>T (p.Gly512=)
n.561-5730T>A
c.1008A>T (p.Gly336=)
c.1260A>T (p.Gly420=)
dbSNP gnomAD v2 gnomAD v4
5g.132340657A>CCA360813315MIR3936HG,SLC22A4c.1537A>C (p.Met513Leu)
n.561-5731T>G
c.1009A>C (p.Met337Leu)
c.1261A>C (p.Met421Leu)
5g.132340657A>GCA360813317MIR3936HG,SLC22A4c.1537A>G (p.Met513Val)
n.561-5731T>C
c.1009A>G (p.Met337Val)
c.1261A>G (p.Met421Val)
5g.132340657A>TCA360813321MIR3936HG,SLC22A4c.1537A>T (p.Met513Leu)
n.561-5731T>A
c.1009A>T (p.Met337Leu)
c.1261A>T (p.Met421Leu)
5g.132340658T>ACA360813327MIR3936HG,SLC22A4c.1538T>A (p.Met513Lys)
n.561-5732A>T
c.1010T>A (p.Met337Lys)
c.1262T>A (p.Met421Lys)
5g.132340658T>CCA360813332MIR3936HG,SLC22A4c.1538T>C (p.Met513Thr)
n.561-5732A>G
c.1010T>C (p.Met337Thr)
c.1262T>C (p.Met421Thr)
5g.132340658T>GCA360813335MIR3936HG,SLC22A4c.1538T>G (p.Met513Arg)
n.561-5732A>C
c.1010T>G (p.Met337Arg)
c.1262T>G (p.Met421Arg)
5g.132340659delCA2675193391MIR3936HG,SLC22A4c.1539del (p.Met513IlefsTer7)
n.561-5733del
c.1011del (p.Met337IlefsTer7)
c.1263del (p.Met421IlefsTer7)
gnomAD v4
5g.132340659G>ACA360813343MIR3936HG,SLC22A4c.1539G>A (p.Met513Ile)
n.561-5733C>T
c.1011G>A (p.Met337Ile)
c.1263G>A (p.Met421Ile)
5g.132340659G>CCA360813344MIR3936HG,SLC22A4c.1539G>C (p.Met513Ile)
n.561-5733C>G
c.1011G>C (p.Met337Ile)
c.1263G>C (p.Met421Ile)
5g.132340659G>TCA360813345MIR3936HG,SLC22A4c.1539G>T (p.Met513Ile)
n.561-5733C>A
c.1011G>T (p.Met337Ile)
c.1263G>T (p.Met421Ile)
dbSNP gnomAD v4
5g.132340660A>CCA360813353MIR3936HG,SLC22A4c.1540A>C (p.Thr514Pro)
n.561-5734T>G
c.1012A>C (p.Thr338Pro)
c.1264A>C (p.Thr422Pro)
5g.132340660A>GCA360813350MIR3936HG,SLC22A4c.1540A>G (p.Thr514Ala)
n.561-5734T>C
c.1012A>G (p.Thr338Ala)
c.1264A>G (p.Thr422Ala)
5g.132340660A>TCA360813348MIR3936HG,SLC22A4c.1540A>T (p.Thr514Ser)
n.561-5734T>A
c.1012A>T (p.Thr338Ser)
c.1264A>T (p.Thr422Ser)
5g.132340661C>ACA360813356MIR3936HG,SLC22A4c.1541C>A (p.Thr514Asn)
n.561-5735G>T
c.1013C>A (p.Thr338Asn)
c.1265C>A (p.Thr422Asn)
5g.132340661C>GCA360813360MIR3936HG,SLC22A4c.1541C>G (p.Thr514Ser)
n.561-5735G>C
c.1013C>G (p.Thr338Ser)
c.1265C>G (p.Thr422Ser)
5g.132340661C>TCA360813359MIR3936HG,SLC22A4c.1541C>T (p.Thr514Ile)
n.561-5735G>A
c.1013C>T (p.Thr338Ile)
c.1265C>T (p.Thr422Ile)
5g.132340662T>ACA446340558MIR3936HG,SLC22A4c.1542T>A (p.Thr514=)
n.561-5736A>T
c.1014T>A (p.Thr338=)
c.1266T>A (p.Thr422=)
5g.132340662T>CCA127207320MIR3936HG,SLC22A4c.1542T>C (p.Thr514=)
n.561-5736A>G
c.1014T>C (p.Thr338=)
c.1266T>C (p.Thr422=)
dbSNP gnomAD v3 gnomAD v4
5g.132340662T>GCA446340568MIR3936HG,SLC22A4c.1542T>G (p.Thr514=)
n.561-5736A>C
c.1014T>G (p.Thr338=)
c.1266T>G (p.Thr422=)
gnomAD v4
5g.132340662T=CA1583125042MIR3936HG,SLC22A4c.1542T= (p.Thr514=)
n.561-5736A=
c.1014T= (p.Thr338=)
c.1266T= (p.Thr422=)
5g.132340663C>ACA127207340MIR3936HG,SLC22A4c.1543C>A (p.Leu515Ile)
n.561-5737G>T
c.1015C>A (p.Leu339Ile)
c.1267C>A (p.Leu423Ile)
dbSNP gnomAD v3 gnomAD v4
5g.132340663C=CA1583125043MIR3936HG,SLC22A4c.1543C= (p.Leu515=)
n.561-5737G=
c.1015C= (p.Leu339=)
c.1267C= (p.Leu423=)
5g.132340663C>GCA360813363MIR3936HG,SLC22A4c.1543C>G (p.Leu515Val)
n.561-5737G>C
c.1015C>G (p.Leu339Val)
c.1267C>G (p.Leu423Val)
gnomAD v4
5g.132340663C>TCA3403716MIR3936HG,SLC22A4c.1543C>T (p.Leu515Phe)
n.561-5737G>A
c.1015C>T (p.Leu339Phe)
c.1267C>T (p.Leu423Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340664T>ACA360813366MIR3936HG,SLC22A4c.1544T>A (p.Leu515His)
n.561-5738A>T
c.1016T>A (p.Leu339His)
c.1268T>A (p.Leu423His)
5g.132340664T>CCA360813369MIR3936HG,SLC22A4c.1544T>C (p.Leu515Pro)
n.561-5738A>G
c.1016T>C (p.Leu339Pro)
c.1268T>C (p.Leu423Pro)
gnomAD v4
5g.132340664T>GCA360813371MIR3936HG,SLC22A4c.1544T>G (p.Leu515Arg)
n.561-5738A>C
c.1016T>G (p.Leu339Arg)
c.1268T>G (p.Leu423Arg)
5g.132340665T>ACA446340584MIR3936HG,SLC22A4c.1545T>A (p.Leu515=)
n.561-5739A>T
c.1017T>A (p.Leu339=)
c.1269T>A (p.Leu423=)
5g.132340665T>CCA446340586MIR3936HG,SLC22A4c.1545T>C (p.Leu515=)
n.561-5739A>G
c.1017T>C (p.Leu339=)
c.1269T>C (p.Leu423=)
5g.132340665T>GCA446340598MIR3936HG,SLC22A4c.1545T>G (p.Leu515=)
n.561-5739A>C
c.1017T>G (p.Leu339=)
c.1269T>G (p.Leu423=)
5g.132340666C>ACA360813374MIR3936HG,SLC22A4c.1546C>A (p.Pro516Thr)
n.561-5740G>T
c.1018C>A (p.Pro340Thr)
c.1270C>A (p.Pro424Thr)
5g.132340666C=CA1583125044MIR3936HG,SLC22A4c.1546C= (p.Pro516=)
n.561-5740G=
c.1018C= (p.Pro340=)
c.1270C= (p.Pro424=)
5g.132340666C>GCA360813375MIR3936HG,SLC22A4c.1546C>G (p.Pro516Ala)
n.561-5740G>C
c.1018C>G (p.Pro340Ala)
c.1270C>G (p.Pro424Ala)
5g.132340666C>TCA360813376MIR3936HG,SLC22A4c.1546C>T (p.Pro516Ser)
n.561-5740G>A
c.1018C>T (p.Pro340Ser)
c.1270C>T (p.Pro424Ser)
dbSNP COSMIC
5g.132340667C>ACA360813379MIR3936HG,SLC22A4c.1547C>A (p.Pro516Gln)
n.561-5741G>T
c.1019C>A (p.Pro340Gln)
c.1271C>A (p.Pro424Gln)
5g.132340667C>GCA360813381MIR3936HG,SLC22A4c.1547C>G (p.Pro516Arg)
n.561-5741G>C
c.1019C>G (p.Pro340Arg)
c.1271C>G (p.Pro424Arg)
5g.132340667C>TCA360813383MIR3936HG,SLC22A4c.1547C>T (p.Pro516Leu)
n.561-5741G>A
c.1019C>T (p.Pro340Leu)
c.1271C>T (p.Pro424Leu)
5g.132340668A>CCA446340617MIR3936HG,SLC22A4c.1548A>C (p.Pro516=)
n.561-5742T>G
c.1020A>C (p.Pro340=)
c.1272A>C (p.Pro424=)
5g.132340668A>GCA446340620MIR3936HG,SLC22A4c.1548A>G (p.Pro516=)
n.561-5742T>C
c.1020A>G (p.Pro340=)
c.1272A>G (p.Pro424=)
5g.132340668A>TCA446340622MIR3936HG,SLC22A4c.1548A>T (p.Pro516=)
n.561-5742T>A
c.1020A>T (p.Pro340=)
c.1272A>T (p.Pro424=)
5g.132340669G>ACA360813389MIR3936HG,SLC22A4c.1549G>A (p.Glu517Lys)
n.561-5743C>T
c.1021G>A (p.Glu341Lys)
c.1273G>A (p.Glu425Lys)
5g.132340669G>CCA360813392MIR3936HG,SLC22A4c.1549G>C (p.Glu517Gln)
n.561-5743C>G
c.1021G>C (p.Glu341Gln)
c.1273G>C (p.Glu425Gln)
5g.132340669G>TCA360813391MIR3936HG,SLC22A4c.1549G>T (p.Glu517Ter)
n.561-5743C>A
c.1021G>T (p.Glu341Ter)
c.1273G>T (p.Glu425Ter)
5g.132340670A>CCA360813395MIR3936HG,SLC22A4c.1550A>C (p.Glu517Ala)
n.561-5744T>G
c.1022A>C (p.Glu341Ala)
c.1274A>C (p.Glu425Ala)
COSMIC
5g.132340670A>GCA360813398MIR3936HG,SLC22A4c.1550A>G (p.Glu517Gly)
n.561-5744T>C
c.1022A>G (p.Glu341Gly)
c.1274A>G (p.Glu425Gly)
5g.132340670A>TCA360813400MIR3936HG,SLC22A4c.1550A>T (p.Glu517Val)
n.561-5744T>A
c.1022A>T (p.Glu341Val)
c.1274A>T (p.Glu425Val)
gnomAD v4
5g.132340671A>CCA360813401MIR3936HG,SLC22A4c.1551A>C (p.Glu517Asp)
n.561-5745T>G
c.1023A>C (p.Glu341Asp)
c.1275A>C (p.Glu425Asp)
5g.132340671A>GCA446340646MIR3936HG,SLC22A4c.1551A>G (p.Glu517=)
n.561-5745T>C
c.1023A>G (p.Glu341=)
c.1275A>G (p.Glu425=)
ClinVar
5g.132340671A>TCA360813402MIR3936HG,SLC22A4c.1551A>T (p.Glu517Asp)
n.561-5745T>A
c.1023A>T (p.Glu341Asp)
c.1275A>T (p.Glu425Asp)
5g.132340672A>CCA360813403MIR3936HG,SLC22A4c.1552A>C (p.Thr518Pro)
n.561-5746T>G
c.1024A>C (p.Thr342Pro)
c.1276A>C (p.Thr426Pro)
5g.132340672A>GCA360813405MIR3936HG,SLC22A4c.1552A>G (p.Thr518Ala)
n.561-5746T>C
c.1024A>G (p.Thr342Ala)
c.1276A>G (p.Thr426Ala)
5g.132340672A>TCA360813408MIR3936HG,SLC22A4c.1552A>T (p.Thr518Ser)
n.561-5746T>A
c.1024A>T (p.Thr342Ser)
c.1276A>T (p.Thr426Ser)
5g.132340673C>ACA360813410MIR3936HG,SLC22A4c.1553C>A (p.Thr518Asn)
n.561-5747G>T
c.1025C>A (p.Thr342Asn)
c.1277C>A (p.Thr426Asn)
5g.132340673C>GCA360813412MIR3936HG,SLC22A4c.1553C>G (p.Thr518Ser)
n.561-5747G>C
c.1025C>G (p.Thr342Ser)
c.1277C>G (p.Thr426Ser)
5g.132340673C>TCA360813414MIR3936HG,SLC22A4c.1553C>T (p.Thr518Ile)
n.561-5747G>A
c.1025C>T (p.Thr342Ile)
c.1277C>T (p.Thr426Ile)
5g.132340674C>ACA446340657MIR3936HG,SLC22A4c.1554C>A (p.Thr518=)
n.561-5748G>T
c.1026C>A (p.Thr342=)
c.1278C>A (p.Thr426=)
5g.132340674C>GCA446340660MIR3936HG,SLC22A4c.1554C>G (p.Thr518=)
n.561-5748G>C
c.1026C>G (p.Thr342=)
c.1278C>G (p.Thr426=)
5g.132340674C>TCA446340662MIR3936HG,SLC22A4c.1554C>T (p.Thr518=)
n.561-5748G>A
c.1026C>T (p.Thr342=)
c.1278C>T (p.Thr426=)
5g.132340675T>ACA360813419MIR3936HG,SLC22A4c.1555T>A (p.Leu519Ile)
n.561-5749A>T
c.1027T>A (p.Leu343Ile)
c.1279T>A (p.Leu427Ile)
5g.132340675T>CCA446340667MIR3936HG,SLC22A4c.1555T>C (p.Leu519=)
n.561-5749A>G
c.1027T>C (p.Leu343=)
c.1279T>C (p.Leu427=)
5g.132340675T>GCA360813416MIR3936HG,SLC22A4c.1555T>G (p.Leu519Val)
n.561-5749A>C
c.1027T>G (p.Leu343Val)
c.1279T>G (p.Leu427Val)
5g.132340676T>ACA360813423MIR3936HG,SLC22A4c.1556T>A (p.Leu519Ter)
n.561-5750A>T
c.1028T>A (p.Leu343Ter)
c.1280T>A (p.Leu427Ter)
5g.132340676T>CCA360813424MIR3936HG,SLC22A4c.1556T>C (p.Leu519Ser)
n.561-5750A>G
c.1028T>C (p.Leu343Ser)
c.1280T>C (p.Leu427Ser)
5g.132340676T>GCA360813426MIR3936HG,SLC22A4c.1556T>G (p.Leu519Ter)
n.561-5750A>C
c.1028T>G (p.Leu343Ter)
c.1280T>G (p.Leu427Ter)
5g.132340677A=CA1583125045MIR3936HG,SLC22A4c.1557A= (p.Leu519=)
n.561-5751T=
c.1029A= (p.Leu343=)
c.1281A= (p.Leu427=)
5g.132340677A>CCA3403717MIR3936HG,SLC22A4c.1557A>C (p.Leu519Phe)
n.561-5751T>G
c.1029A>C (p.Leu343Phe)
c.1281A>C (p.Leu427Phe)
dbSNP ExAC gnomAD v2
5g.132340677A>GCA446340682MIR3936HG,SLC22A4c.1557A>G (p.Leu519=)
n.561-5751T>C
c.1029A>G (p.Leu343=)
c.1281A>G (p.Leu427=)
5g.132340677A>TCA360813427MIR3936HG,SLC22A4c.1557A>T (p.Leu519Phe)
n.561-5751T>A
c.1029A>T (p.Leu343Phe)
c.1281A>T (p.Leu427Phe)
5g.132340678G>ACA360813428MIR3936HG,SLC22A4c.1558G>A (p.Glu520Lys)
n.561-5752C>T
c.1030G>A (p.Glu344Lys)
c.1282G>A (p.Glu428Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.132340678G>CCA3403718MIR3936HG,SLC22A4c.1558G>C (p.Glu520Gln)
n.561-5752C>G
c.1030G>C (p.Glu344Gln)
c.1282G>C (p.Glu428Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.132340678G=CA1583125046MIR3936HG,SLC22A4c.1558G= (p.Glu520=)
n.561-5752C=
c.1030G= (p.Glu344=)
c.1282G= (p.Glu428=)
5g.132340678G>TCA360813429MIR3936HG,SLC22A4c.1558G>T (p.Glu520Ter)
n.561-5752C>A
c.1030G>T (p.Glu344Ter)
c.1282G>T (p.Glu428Ter)
5g.132340679A>CCA360813431MIR3936HG,SLC22A4c.1559A>C (p.Glu520Ala)
n.561-5753T>G
c.1031A>C (p.Glu344Ala)
c.1283A>C (p.Glu428Ala)
5g.132340679A>GCA360813433MIR3936HG,SLC22A4c.1559A>G (p.Glu520Gly)
n.561-5753T>C
c.1031A>G (p.Glu344Gly)
c.1283A>G (p.Glu428Gly)
gnomAD v4
5g.132340679A>TCA360813434MIR3936HG,SLC22A4c.1559A>T (p.Glu520Val)
n.561-5753T>A
c.1031A>T (p.Glu344Val)
c.1283A>T (p.Glu428Val)
5g.132340680G>ACA446340699MIR3936HG,SLC22A4c.1560G>A (p.Glu520=)
n.561-5754C>T
c.1032G>A (p.Glu344=)
c.1284G>A (p.Glu428=)
5g.132340680G>CCA360813436MIR3936HG,SLC22A4c.1560G>C (p.Glu520Asp)
n.561-5754C>G
c.1032G>C (p.Glu344Asp)
c.1284G>C (p.Glu428Asp)
5g.132340680G>TCA360813438MIR3936HG,SLC22A4c.1560G>T (p.Glu520Asp)
n.561-5754C>A
c.1032G>T (p.Glu344Asp)
c.1284G>T (p.Glu428Asp)
5g.132340681C>ACA360813445MIR3936HG,SLC22A4c.1561C>A (p.Gln521Lys)
n.561-5755G>T
c.1033C>A (p.Gln345Lys)
c.1285C>A (p.Gln429Lys)
5g.132340681C>GCA360813443MIR3936HG,SLC22A4c.1561C>G (p.Gln521Glu)
n.561-5755G>C
c.1033C>G (p.Gln345Glu)
c.1285C>G (p.Gln429Glu)
5g.132340681C>TCA360813440MIR3936HG,SLC22A4c.1561C>T (p.Gln521Ter)
n.561-5755G>A
c.1033C>T (p.Gln345Ter)
c.1285C>T (p.Gln429Ter)
5g.132340682A>CCA360813448MIR3936HG,SLC22A4c.1562A>C (p.Gln521Pro)
n.561-5756T>G
c.1034A>C (p.Gln345Pro)
c.1286A>C (p.Gln429Pro)
5g.132340682A>GCA360813450MIR3936HG,SLC22A4c.1562A>G (p.Gln521Arg)
n.561-5756T>C
c.1034A>G (p.Gln345Arg)
c.1286A>G (p.Gln429Arg)
5g.132340682A>TCA360813452MIR3936HG,SLC22A4c.1562A>T (p.Gln521Leu)
n.561-5756T>A
c.1034A>T (p.Gln345Leu)
c.1286A>T (p.Gln429Leu)
5g.132340683delCA2675193392MIR3936HG,SLC22A4c.1563del (p.Met522CysfsTer4)
n.561-5757del
c.1035del (p.Met346CysfsTer4)
c.1287del (p.Met430CysfsTer4)
gnomAD v4
5g.132340683G>ACA446340723MIR3936HG,SLC22A4c.1563G>A (p.Gln521=)
n.561-5757C>T
c.1035G>A (p.Gln345=)
c.1287G>A (p.Gln429=)
5g.132340683G>CCA360813461MIR3936HG,SLC22A4c.1563G>C (p.Gln521His)
n.561-5757C>G
c.1035G>C (p.Gln345His)
c.1287G>C (p.Gln429His)
5g.132340683G>TCA360813464MIR3936HG,SLC22A4c.1563G>T (p.Gln521His)
n.561-5757C>A
c.1035G>T (p.Gln345His)
c.1287G>T (p.Gln429His)
5g.132340684A>CCA360813469MIR3936HG,SLC22A4c.1564A>C (p.Met522Leu)
n.561-5758T>G
c.1036A>C (p.Met346Leu)
c.1288A>C (p.Met430Leu)
5g.132340684A>GCA360813470MIR3936HG,SLC22A4c.1564A>G (p.Met522Val)
n.561-5758T>C
c.1036A>G (p.Met346Val)
c.1288A>G (p.Met430Val)
gnomAD v4
5g.132340684A>TCA360813479MIR3936HG,SLC22A4c.1564A>T (p.Met522Leu)
n.561-5758T>A
c.1036A>T (p.Met346Leu)
c.1288A>T (p.Met430Leu)
5g.132340685T>ACA360813482MIR3936HG,SLC22A4c.1565T>A (p.Met522Lys)
n.561-5759A>T
c.1037T>A (p.Met346Lys)
c.1289T>A (p.Met430Lys)
5g.132340685T>CCA360813484MIR3936HG,SLC22A4c.1565T>C (p.Met522Thr)
n.561-5759A>G
c.1037T>C (p.Met346Thr)
c.1289T>C (p.Met430Thr)
gnomAD v4
5g.132340685T>GCA360813487MIR3936HG,SLC22A4c.1565T>G (p.Met522Arg)
n.561-5759A>C
c.1037T>G (p.Met346Arg)
c.1289T>G (p.Met430Arg)
5g.132340686G>ACA360813490MIR3936HG,SLC22A4c.1566G>A (p.Met522Ile)
n.561-5760C>T
c.1038G>A (p.Met346Ile)
c.1290G>A (p.Met430Ile)
5g.132340686G>CCA360813493MIR3936HG,SLC22A4c.1566G>C (p.Met522Ile)
n.561-5760C>G
c.1038G>C (p.Met346Ile)
c.1290G>C (p.Met430Ile)
5g.132340686G>TCA360813495MIR3936HG,SLC22A4c.1566G>T (p.Met522Ile)
n.561-5760C>A
c.1038G>T (p.Met346Ile)
c.1290G>T (p.Met430Ile)
5g.132340687C>ACA3403719MIR3936HG,SLC22A4c.1567C>A (p.Gln523Lys)
n.561-5761G>T
c.1039C>A (p.Gln347Lys)
c.1291C>A (p.Gln431Lys)
dbSNP ExAC gnomAD v2
5g.132340687C=CA1583125047MIR3936HG,SLC22A4c.1567C= (p.Gln523=)
n.561-5761G=
c.1039C= (p.Gln347=)
c.1291C= (p.Gln431=)
5g.132340687C>GCA360813500MIR3936HG,SLC22A4c.1567C>G (p.Gln523Glu)
n.561-5761G>C
c.1039C>G (p.Gln347Glu)
c.1291C>G (p.Gln431Glu)
5g.132340687C>TCA360813499MIR3936HG,SLC22A4c.1567C>T (p.Gln523Ter)
n.561-5761G>A
c.1039C>T (p.Gln347Ter)
c.1291C>T (p.Gln431Ter)
5g.132340688A=CA1583125048MIR3936HG,SLC22A4c.1568A= (p.Gln523=)
n.561-5762T=
c.1040A= (p.Gln347=)
c.1292A= (p.Gln431=)
5g.132340688A>CCA360813502MIR3936HG,SLC22A4c.1568A>C (p.Gln523Pro)
n.561-5762T>G
c.1040A>C (p.Gln347Pro)
c.1292A>C (p.Gln431Pro)
5g.132340688A>GCA360813506MIR3936HG,SLC22A4c.1568A>G (p.Gln523Arg)
n.561-5762T>C
c.1040A>G (p.Gln347Arg)
c.1292A>G (p.Gln431Arg)
5g.132340688A>TCA360813504MIR3936HG,SLC22A4c.1568A>T (p.Gln523Leu)
n.561-5762T>A
c.1040A>T (p.Gln347Leu)
c.1292A>T (p.Gln431Leu)
dbSNP
5g.132340689G>ACA3403720MIR3936HG,SLC22A4c.1569G>A (p.Gln523=)
n.561-5763C>T
c.1041G>A (p.Gln347=)
c.1293G>A (p.Gln431=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340689G>CCA360813510MIR3936HG,SLC22A4c.1569G>C (p.Gln523His)
n.561-5763C>G
c.1041G>C (p.Gln347His)
c.1293G>C (p.Gln431His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132340689G=CA1583125049MIR3936HG,SLC22A4c.1569G= (p.Gln523=)
n.561-5763C=
c.1041G= (p.Gln347=)
c.1293G= (p.Gln431=)
5g.132340689G>TCA360813514MIR3936HG,SLC22A4c.1569G>T (p.Gln523His)
n.561-5763C>A
c.1041G>T (p.Gln347His)
c.1293G>T (p.Gln431His)
5g.132340690A>CCA360813516MIR3936HG,SLC22A4c.1570A>C (p.Lys524Gln)
n.561-5764T>G
c.1042A>C (p.Lys348Gln)
c.1294A>C (p.Lys432Gln)
5g.132340690A>GCA360813518MIR3936HG,SLC22A4c.1570A>G (p.Lys524Glu)
n.561-5764T>C
c.1042A>G (p.Lys348Glu)
c.1294A>G (p.Lys432Glu)
5g.132340690A>TCA360813520MIR3936HG,SLC22A4c.1570A>T (p.Lys524Ter)
n.561-5764T>A
c.1042A>T (p.Lys348Ter)
c.1294A>T (p.Lys432Ter)
5g.132340691A>CCA360813523MIR3936HG,SLC22A4c.1571A>C (p.Lys524Thr)
n.561-5765T>G
c.1043A>C (p.Lys348Thr)
c.1295A>C (p.Lys432Thr)
5g.132340691A>GCA360813524MIR3936HG,SLC22A4c.1571A>G (p.Lys524Arg)
n.561-5765T>C
c.1043A>G (p.Lys348Arg)
c.1295A>G (p.Lys432Arg)
5g.132340691A>TCA360813525MIR3936HG,SLC22A4c.1571A>T (p.Lys524Ile)
n.561-5765T>A
c.1043A>T (p.Lys348Ile)
c.1295A>T (p.Lys432Ile)
5g.132340692A>CCA360813530MIR3936HG,SLC22A4c.1572A>C (p.Lys524Asn)
n.561-5766T>G
c.1044A>C (p.Lys348Asn)
c.1296A>C (p.Lys432Asn)
5g.132340692A>GCA446340768MIR3936HG,SLC22A4c.1572A>G (p.Lys524=)
n.561-5766T>C
c.1044A>G (p.Lys348=)
c.1296A>G (p.Lys432=)
5g.132340692A>TCA360813531MIR3936HG,SLC22A4c.1572A>T (p.Lys524Asn)
n.561-5766T>A
c.1044A>T (p.Lys348Asn)
c.1296A>T (p.Lys432Asn)
5g.132340693G>ACA360813539MIR3936HG,SLC22A4c.1573G>A (p.Val525Met)
n.561-5767C>T
c.1045G>A (p.Val349Met)
c.1297G>A (p.Val433Met)
5g.132340693G>CCA360813537MIR3936HG,SLC22A4c.1573G>C (p.Val525Leu)
n.561-5767C>G
c.1045G>C (p.Val349Leu)
c.1297G>C (p.Val433Leu)
gnomAD v4
5g.132340693G>TCA360813534MIR3936HG,SLC22A4c.1573G>T (p.Val525Leu)
n.561-5767C>A
c.1045G>T (p.Val349Leu)
c.1297G>T (p.Val433Leu)
5g.132340694T>ACA360813542MIR3936HG,SLC22A4c.1574T>A (p.Val525Glu)
n.561-5768A>T
c.1046T>A (p.Val349Glu)
c.1298T>A (p.Val433Glu)
5g.132340694T>CCA360813543MIR3936HG,SLC22A4c.1574T>C (p.Val525Ala)
n.561-5768A>G
c.1046T>C (p.Val349Ala)
c.1298T>C (p.Val433Ala)
5g.132340694T>GCA360813547MIR3936HG,SLC22A4c.1574T>G (p.Val525Gly)
n.561-5768A>C
c.1046T>G (p.Val349Gly)
c.1298T>G (p.Val433Gly)
5g.132340695G>ACA446340784MIR3936HG,SLC22A4c.1575G>A (p.Val525=)
n.561-5769C>T
c.1047G>A (p.Val349=)
c.1299G>A (p.Val433=)
5g.132340695G>CCA446340787MIR3936HG,SLC22A4c.1575G>C (p.Val525=)
n.561-5769C>G
c.1047G>C (p.Val349=)
c.1299G>C (p.Val433=)
5g.132340695G>TCA446340800MIR3936HG,SLC22A4c.1575G>T (p.Val525=)
n.561-5769C>A
c.1047G>T (p.Val349=)
c.1299G>T (p.Val433=)
5g.132340696A>CCA360813548MIR3936HG,SLC22A4c.1576A>C (p.Lys526Gln)
n.561-5770T>G
c.1048A>C (p.Lys350Gln)
c.1300A>C (p.Lys434Gln)
5g.132340696A>GCA360813551MIR3936HG,SLC22A4c.1576A>G (p.Lys526Glu)
n.561-5770T>C
c.1048A>G (p.Lys350Glu)
c.1300A>G (p.Lys434Glu)
5g.132340696A>TCA360813554MIR3936HG,SLC22A4c.1576A>T (p.Lys526Ter)
n.561-5770T>A
c.1048A>T (p.Lys350Ter)
c.1300A>T (p.Lys434Ter)
5g.132340697A>CCA360813558MIR3936HG,SLC22A4c.1577A>C (p.Lys526Thr)
n.561-5771T>G
c.1049A>C (p.Lys350Thr)
c.1301A>C (p.Lys434Thr)
5g.132340697A>GCA360813559MIR3936HG,SLC22A4c.1577A>G (p.Lys526Arg)
n.561-5771T>C
c.1049A>G (p.Lys350Arg)
c.1301A>G (p.Lys434Arg)
5g.132340697A>TCA360813563MIR3936HG,SLC22A4c.1577A>T (p.Lys526Ile)
n.561-5771T>A
c.1049A>T (p.Lys350Ile)
c.1301A>T (p.Lys434Ile)
5g.132340698A>CCA360813566MIR3936HG,SLC22A4c.1578A>C (p.Lys526Asn)
n.561-5772T>G
c.1050A>C (p.Lys350Asn)
c.1302A>C (p.Lys434Asn)
5g.132340698A>GCA446340815MIR3936HG,SLC22A4c.1578A>G (p.Lys526=)
n.561-5772T>C
c.1050A>G (p.Lys350=)
c.1302A>G (p.Lys434=)
5g.132340698A>TCA360813567MIR3936HG,SLC22A4c.1578A>T (p.Lys526Asn)
n.561-5772T>A
c.1050A>T (p.Lys350Asn)
c.1302A>T (p.Lys434Asn)
5g.132340699T>ACA360813574MIR3936HG,SLC22A4c.1579T>A (p.Trp527Arg)
n.561-5773A>T
c.1051T>A (p.Trp351Arg)
c.1303T>A (p.Trp435Arg)
5g.132340699T>CCA360813572MIR3936HG,SLC22A4c.1579T>C (p.Trp527Arg)
n.561-5773A>G
c.1051T>C (p.Trp351Arg)
c.1303T>C (p.Trp435Arg)
gnomAD v4
5g.132340699T>GCA360813570MIR3936HG,SLC22A4c.1579T>G (p.Trp527Gly)
n.561-5773A>C
c.1051T>G (p.Trp351Gly)
c.1303T>G (p.Trp435Gly)
5g.132340700G>ACA3403721MIR3936HG,SLC22A4c.1580G>A (p.Trp527Ter)
n.561-5774C>T
c.1052G>A (p.Trp351Ter)
c.1304G>A (p.Trp435Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340700G>CCA3403722MIR3936HG,SLC22A4c.1580G>C (p.Trp527Ser)
n.561-5774C>G
c.1052G>C (p.Trp351Ser)
c.1304G>C (p.Trp435Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340700G=CA1583125050MIR3936HG,SLC22A4c.1580G= (p.Trp527=)
n.561-5774C=
c.1052G= (p.Trp351=)
c.1304G= (p.Trp435=)
5g.132340700G>TCA360813579MIR3936HG,SLC22A4c.1580G>T (p.Trp527Leu)
n.561-5774C>A
c.1052G>T (p.Trp351Leu)
c.1304G>T (p.Trp435Leu)
5g.132340701G>ACA360813580MIR3936HG,SLC22A4c.1580+1G>A (n.1580+1G>A)
n.561-5775C>T
c.1052+1G>A (n.1052+1G>A)
c.1304+1G>A (n.1304+1G>A)
5g.132340701G>CCA360813582MIR3936HG,SLC22A4c.1580+1G>C (n.1580+1G>C)
n.561-5775C>G
c.1052+1G>C (n.1052+1G>C)
c.1304+1G>C (n.1304+1G>C)
5g.132340701G>TCA360813584MIR3936HG,SLC22A4c.1580+1G>T (n.1580+1G>T)
n.561-5775C>A
c.1052+1G>T (n.1052+1G>T)
c.1304+1G>T (n.1304+1G>T)
5g.132340702T>ACA360813587MIR3936HG,SLC22A4c.1580+2T>A (n.1580+2T>A)
n.561-5776A>T
c.1052+2T>A (n.1052+2T>A)
c.1304+2T>A (n.1304+2T>A)
5g.132340702T>CCA360813589MIR3936HG,SLC22A4c.1580+2T>C (n.1580+2T>C)
n.561-5776A>G
c.1052+2T>C (n.1052+2T>C)
c.1304+2T>C (n.1304+2T>C)
5g.132340702T>GCA360813592MIR3936HG,SLC22A4c.1580+2T>G (n.1580+2T>G)
n.561-5776A>C
c.1052+2T>G (n.1052+2T>G)
c.1304+2T>G (n.1304+2T>G)
5g.132340703A=CA1583125051MIR3936HG,SLC22A4c.1580+3A= (n.1580+3A=)
n.561-5777T=
c.1052+3A= (n.1052+3A=)
c.1304+3A= (n.1304+3A=)
5g.132340703A>GCA562764496MIR3936HG,SLC22A4c.1580+3A>G (n.1580+3A>G)
n.561-5777T>C
c.1052+3A>G (n.1052+3A>G)
c.1304+3A>G (n.1304+3A>G)
dbSNP gnomAD v2 gnomAD v4
5g.132340704A=CA1583125052MIR3936HG,SLC22A4c.1580+4A= (n.1580+4A=)
n.561-5778T=
c.1052+4A= (n.1052+4A=)
c.1304+4A= (n.1304+4A=)
5g.132340704A>TCA562764498MIR3936HG,SLC22A4c.1580+4A>T (n.1580+4A>T)
n.561-5778T>A
c.1052+4A>T (n.1052+4A>T)
c.1304+4A>T (n.1304+4A>T)
dbSNP gnomAD v2
5g.132340705G>ACA2675193393MIR3936HG,SLC22A4c.1580+5G>A (n.1580+5G>A)
n.561-5779C>T
c.1052+5G>A (n.1052+5G>A)
c.1304+5G>A (n.1304+5G>A)
gnomAD v4
5g.132340705G>TCA2675193394MIR3936HG,SLC22A4c.1580+5G>T (n.1580+5G>T)
n.561-5779C>A
c.1052+5G>T (n.1052+5G>T)
c.1304+5G>T (n.1304+5G>T)
gnomAD v4
5g.132340706T>CCA2675193395MIR3936HG,SLC22A4c.1580+6T>C (n.1580+6T>C)
n.561-5780A>G
c.1052+6T>C (n.1052+6T>C)
c.1304+6T>C (n.1304+6T>C)
gnomAD v4
5g.132340709G>ACA127207353MIR3936HG,SLC22A4c.1580+9G>A (n.1580+9G>A)
n.561-5783C>T
c.1052+9G>A (n.1052+9G>A)
c.1304+9G>A (n.1304+9G>A)
dbSNP gnomAD v3 gnomAD v4
5g.132340709G=CA1583125053MIR3936HG,SLC22A4c.1580+9G= (n.1580+9G=)
n.561-5783C=
c.1052+9G= (n.1052+9G=)
c.1304+9G= (n.1304+9G=)
5g.132340710A=CA1583125054MIR3936HG,SLC22A4c.1580+10A= (n.1580+10A=)
n.561-5784T=
c.1052+10A= (n.1052+10A=)
c.1304+10A= (n.1304+10A=)
5g.132340710A>CCA3403723MIR3936HG,SLC22A4c.1580+10A>C (n.1580+10A>C)
n.561-5784T>G
c.1052+10A>C (n.1052+10A>C)
c.1304+10A>C (n.1304+10A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340710A>GCA2768422485MIR3936HG,SLC22A4c.1580+10A>G (n.1580+10A>G)
n.561-5784T>C
c.1052+10A>G (n.1052+10A>G)
c.1304+10A>G (n.1304+10A>G)
5g.132340711C>GCA2675193396MIR3936HG,SLC22A4c.1580+11C>G (n.1580+11C>G)
n.561-5785G>C
c.1052+11C>G (n.1052+11C>G)
c.1304+11C>G (n.1304+11C>G)
gnomAD v4
5g.132340714T>CCA804012389MIR3936HG,SLC22A4c.1580+14T>C (n.1580+14T>C)
n.561-5788A>G
c.1052+14T>C (n.1052+14T>C)
c.1304+14T>C (n.1304+14T>C)
dbSNP
5g.132340714T=CA1583125055MIR3936HG,SLC22A4c.1580+14T= (n.1580+14T=)
n.561-5788A=
c.1052+14T= (n.1052+14T=)
c.1304+14T= (n.1304+14T=)
5g.132340714_132340724delCA2675193397MIR3936HG,SLC22A4c.1580+14_1580+24del (n.1580+14_1580+24del)
n.561-5798_561-5788del
c.1052+14_1052+24del (n.1052+14_1052+24del)
c.1304+14_1304+24del (n.1304+14_1304+24del)
gnomAD v4
5g.132340715T>CCA2675193398MIR3936HG,SLC22A4c.1580+15T>C (n.1580+15T>C)
n.561-5789A>G
c.1052+15T>C (n.1052+15T>C)
c.1304+15T>C (n.1304+15T>C)
gnomAD v4
5g.132340717delCA2578401907MIR3936HG,SLC22A4c.1580+17del (n.1580+17del)
n.561-5790del
c.1052+17del (n.1052+17del)
c.1304+17del (n.1304+17del)
gnomAD v4
5g.132340718C=CA1583125056MIR3936HG,SLC22A4c.1580+18C= (n.1580+18C=)
n.561-5792G=
c.1052+18C= (n.1052+18C=)
c.1304+18C= (n.1304+18C=)
5g.132340718C>TCA3403724MIR3936HG,SLC22A4c.1580+18C>T (n.1580+18C>T)
n.561-5792G>A
c.1052+18C>T (n.1052+18C>T)
c.1304+18C>T (n.1304+18C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340722A>GCA2675193399MIR3936HG,SLC22A4c.1580+22A>G (n.1580+22A>G)
n.561-5796T>C
c.1052+22A>G (n.1052+22A>G)
c.1304+22A>G (n.1304+22A>G)
gnomAD v4
5g.132340723T>CCA562764500MIR3936HG,SLC22A4c.1580+23T>C (n.1580+23T>C)
n.561-5797A>G
c.1052+23T>C (n.1052+23T>C)
c.1304+23T>C (n.1304+23T>C)
dbSNP gnomAD v2
5g.132340723T=CA1583125057MIR3936HG,SLC22A4c.1580+23T= (n.1580+23T=)
n.561-5797A=
c.1052+23T= (n.1052+23T=)
c.1304+23T= (n.1304+23T=)
5g.132340726T>ACA562764501MIR3936HG,SLC22A4c.1580+26T>A (n.1580+26T>A)
n.561-5800A>T
c.1052+26T>A (n.1052+26T>A)
c.1304+26T>A (n.1304+26T>A)
dbSNP gnomAD v2 gnomAD v4
5g.132340726T>CCA562764502MIR3936HG,SLC22A4c.1580+26T>C (n.1580+26T>C)
n.561-5800A>G
c.1052+26T>C (n.1052+26T>C)
c.1304+26T>C (n.1304+26T>C)
dbSNP gnomAD v2 gnomAD v4
5g.132340726T=CA1583125058MIR3936HG,SLC22A4c.1580+26T= (n.1580+26T=)
n.561-5800A=
c.1052+26T= (n.1052+26T=)
c.1304+26T= (n.1304+26T=)
5g.132340727A=CA1583125059MIR3936HG,SLC22A4c.1580+27A= (n.1580+27A=)
n.561-5801T=
c.1052+27A= (n.1052+27A=)
c.1304+27A= (n.1304+27A=)
5g.132340727A>GCA2675193400MIR3936HG,SLC22A4c.1580+27A>G (n.1580+27A>G)
n.561-5801T>C
c.1052+27A>G (n.1052+27A>G)
c.1304+27A>G (n.1304+27A>G)
gnomAD v4
5g.132340727A>TCA1583125060MIR3936HG,SLC22A4c.1580+27A>T (n.1580+27A>T)
n.561-5801T>A
c.1052+27A>T (n.1052+27A>T)
c.1304+27A>T (n.1304+27A>T)
dbSNP gnomAD v3 gnomAD v4
5g.132340728C>ACA2675193401MIR3936HG,SLC22A4c.1580+28C>A (n.1580+28C>A)
n.561-5802G>T
c.1052+28C>A (n.1052+28C>A)
c.1304+28C>A (n.1304+28C>A)
gnomAD v4
5g.132340729C>ACA2675193402MIR3936HG,SLC22A4c.1580+29C>A (n.1580+29C>A)
n.561-5803G>T
c.1052+29C>A (n.1052+29C>A)
c.1304+29C>A (n.1304+29C>A)
gnomAD v4
5g.132340729C>TCA2675193403MIR3936HG,SLC22A4c.1580+29C>T (n.1580+29C>T)
n.561-5803G>A
c.1052+29C>T (n.1052+29C>T)
c.1304+29C>T (n.1304+29C>T)
gnomAD v4
5g.132340730A=CA1583125061MIR3936HG,SLC22A4c.1580+30A= (n.1580+30A=)
n.561-5804T=
c.1052+30A= (n.1052+30A=)
c.1304+30A= (n.1304+30A=)
5g.132340730A>CCA1583125062MIR3936HG,SLC22A4c.1580+30A>C (n.1580+30A>C)
n.561-5804T>G
c.1052+30A>C (n.1052+30A>C)
c.1304+30A>C (n.1304+30A>C)
dbSNP gnomAD v4
5g.132340733delCA2675193404MIR3936HG,SLC22A4c.1580+33del (n.1580+33del)
n.561-5804del
c.1052+33del (n.1052+33del)
c.1304+33del (n.1304+33del)
gnomAD v4
5g.132340732_132340733insCACACCCAACACCA2768422487MIR3936HG,SLC22A4c.1580+32_1580+33insCACACCCAACAC (n.1580+32_1580+33insCACACCCAACAC)
n.561-5807_561-5806insGTGTTGGGTGTG
c.1052+32_1052+33insCACACCCAACAC (n.1052+32_1052+33insCACACCCAACAC)
c.1304+32_1304+33insCACACCCAACAC (n.1304+32_1304+33insCACACCCAACAC)
5g.132340736C>ACA2675193405MIR3936HG,SLC22A4c.1580+36C>A (n.1580+36C>A)
n.561-5810G>T
c.1052+36C>A (n.1052+36C>A)
c.1304+36C>A (n.1304+36C>A)
gnomAD v4
5g.132340736C=CA1583125063MIR3936HG,SLC22A4c.1580+36C= (n.1580+36C=)
n.561-5810G=
c.1052+36C= (n.1052+36C=)
c.1304+36C= (n.1304+36C=)
5g.132340736C>TCA562764503MIR3936HG,SLC22A4c.1580+36C>T (n.1580+36C>T)
n.561-5810G>A
c.1052+36C>T (n.1052+36C>T)
c.1304+36C>T (n.1304+36C>T)
dbSNP gnomAD v2 gnomAD v4
5g.132340737C>ACA2675193406MIR3936HG,SLC22A4c.1580+37C>A (n.1580+37C>A)
n.561-5811G>T
c.1052+37C>A (n.1052+37C>A)
c.1304+37C>A (n.1304+37C>A)
gnomAD v4
5g.132340737C>GCA2578401908MIR3936HG,SLC22A4c.1580+37C>G (n.1580+37C>G)
n.561-5811G>C
c.1052+37C>G (n.1052+37C>G)
c.1304+37C>G (n.1304+37C>G)
5g.132340738T>CCA2768422489MIR3936HG,SLC22A4c.1580+38T>C (n.1580+38T>C)
n.561-5812A>G
c.1052+38T>C (n.1052+38T>C)
c.1304+38T>C (n.1304+38T>C)
5g.132340739delCA2675193407MIR3936HG,SLC22A4c.1580+39del (n.1580+39del)
n.561-5812del
c.1052+39del (n.1052+39del)
c.1304+39del (n.1304+39del)
gnomAD v4
5g.132340739T>CCA3403725MIR3936HG,SLC22A4c.1580+39T>C (n.1580+39T>C)
n.561-5813A>G
c.1052+39T>C (n.1052+39T>C)
c.1304+39T>C (n.1304+39T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132340739T=CA1583125064MIR3936HG,SLC22A4c.1580+39T= (n.1580+39T=)
n.561-5813A=
c.1052+39T= (n.1052+39T=)
c.1304+39T= (n.1304+39T=)
5g.132340740A=CA1583125066MIR3936HG,SLC22A4c.1580+40A= (n.1580+40A=)
n.561-5814T=
c.1052+40A= (n.1052+40A=)
c.1304+40A= (n.1304+40A=)
5g.132340740A>CCA804012410MIR3936HG,SLC22A4c.1580+40A>C (n.1580+40A>C)
n.561-5814T>G
c.1052+40A>C (n.1052+40A>C)
c.1304+40A>C (n.1304+40A>C)
dbSNP
5g.132340740A>GCA1583125067MIR3936HG,SLC22A4c.1580+40A>G (n.1580+40A>G)
n.561-5814T>C
c.1052+40A>G (n.1052+40A>G)
c.1304+40A>G (n.1304+40A>G)
dbSNP
5g.132340740A>TCA1583125065MIR3936HG,SLC22A4c.1580+40A>T (n.1580+40A>T)
n.561-5814T>A
c.1052+40A>T (n.1052+40A>T)
c.1304+40A>T (n.1304+40A>T)
dbSNP

Number of alleles fetched