Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132340627C>ACA360813144MIR3936HG,SLC22A4c.1507C>A (p.Leu503Ile)
n.561-5701G>T
c.979C>A (p.Leu327Ile)
c.1231C>A (p.Leu411Ile)
5g.132340627C=CA1583125029MIR3936HG,SLC22A4c.1507C= (p.Leu503=)
n.561-5701G=
c.979C= (p.Leu327=)
c.1231C= (p.Leu411=)
5g.132340627C>GCA360813145MIR3936HG,SLC22A4c.1507C>G (p.Leu503Val)
n.561-5701G>C
c.979C>G (p.Leu327Val)
c.1231C>G (p.Leu411Val)
5g.132340627C>TCA117718MIR3936HG,SLC22A4c.1507C>T (p.Leu503Phe)
n.561-5701G>A
c.979C>T (p.Leu327Phe)
c.1231C>T (p.Leu411Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340628T>ACA360813146MIR3936HG,SLC22A4c.1508T>A (p.Leu503His)
n.561-5702A>T
c.980T>A (p.Leu327His)
c.1232T>A (p.Leu411His)
5g.132340628T>CCA360813148MIR3936HG,SLC22A4c.1508T>C (p.Leu503Pro)
n.561-5702A>G
c.980T>C (p.Leu327Pro)
c.1232T>C (p.Leu411Pro)
5g.132340628T>GCA360813147MIR3936HG,SLC22A4c.1508T>G (p.Leu503Arg)
n.561-5702A>C
c.980T>G (p.Leu327Arg)
c.1232T>G (p.Leu411Arg)
5g.132340629C>ACA3403711MIR3936HG,SLC22A4c.1509C>A (p.Leu503=)
n.561-5703G>T
c.981C>A (p.Leu327=)
c.1233C>A (p.Leu411=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.132340629C=CA1583125030MIR3936HG,SLC22A4c.1509C= (p.Leu503=)
n.561-5703G=
c.981C= (p.Leu327=)
c.1233C= (p.Leu411=)
5g.132340629C>GCA446340307MIR3936HG,SLC22A4c.1509C>G (p.Leu503=)
n.561-5703G>C
c.981C>G (p.Leu327=)
c.1233C>G (p.Leu411=)
5g.132340629C>TCA446340315MIR3936HG,SLC22A4c.1509C>T (p.Leu503=)
n.561-5703G>A
c.981C>T (p.Leu327=)
c.1233C>T (p.Leu411=)
gnomAD v4
5g.132340630A>CCA360813150MIR3936HG,SLC22A4c.1510A>C (p.Thr504Pro)
n.561-5704T>G
c.982A>C (p.Thr328Pro)
c.1234A>C (p.Thr412Pro)
5g.132340630A>GCA360813155MIR3936HG,SLC22A4c.1510A>G (p.Thr504Ala)
n.561-5704T>C
c.982A>G (p.Thr328Ala)
c.1234A>G (p.Thr412Ala)
5g.132340630A>TCA360813159MIR3936HG,SLC22A4c.1510A>T (p.Thr504Ser)
n.561-5704T>A
c.982A>T (p.Thr328Ser)
c.1234A>T (p.Thr412Ser)
5g.132340631C>ACA360813162MIR3936HG,SLC22A4c.1511C>A (p.Thr504Asn)
n.561-5705G>T
c.983C>A (p.Thr328Asn)
c.1235C>A (p.Thr412Asn)
5g.132340631C=CA1583125031MIR3936HG,SLC22A4c.1511C= (p.Thr504=)
n.561-5705G=
c.983C= (p.Thr328=)
c.1235C= (p.Thr412=)
5g.132340631C>GCA360813166MIR3936HG,SLC22A4c.1511C>G (p.Thr504Ser)
n.561-5705G>C
c.983C>G (p.Thr328Ser)
c.1235C>G (p.Thr412Ser)
gnomAD v4
5g.132340631C>TCA360813172MIR3936HG,SLC22A4c.1511C>T (p.Thr504Ile)
n.561-5705G>A
c.983C>T (p.Thr328Ile)
c.1235C>T (p.Thr412Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.132340632C>ACA446340332MIR3936HG,SLC22A4c.1512C>A (p.Thr504=)
n.561-5706G>T
c.984C>A (p.Thr328=)
c.1236C>A (p.Thr412=)
5g.132340632C>GCA446340335MIR3936HG,SLC22A4c.1512C>G (p.Thr504=)
n.561-5706G>C
c.984C>G (p.Thr328=)
c.1236C>G (p.Thr412=)
gnomAD v4
5g.132340632C>TCA446340338MIR3936HG,SLC22A4c.1512C>T (p.Thr504=)
n.561-5706G>A
c.984C>T (p.Thr328=)
c.1236C>T (p.Thr412=)
5g.132340633C>ACA360813176MIR3936HG,SLC22A4c.1513C>A (p.Leu505Ile)
n.561-5707G>T
c.985C>A (p.Leu329Ile)
c.1237C>A (p.Leu413Ile)
dbSNP gnomAD v3 gnomAD v4
5g.132340633C=CA1583125033MIR3936HG,SLC22A4c.1513C= (p.Leu505=)
n.561-5707G=
c.985C= (p.Leu329=)
c.1237C= (p.Leu413=)
5g.132340633C>GCA360813179MIR3936HG,SLC22A4c.1513C>G (p.Leu505Val)
n.561-5707G>C
c.985C>G (p.Leu329Val)
c.1237C>G (p.Leu413Val)
5g.132340633C>TCA360813180MIR3936HG,SLC22A4c.1513C>T (p.Leu505Phe)
n.561-5707G>A
c.985C>T (p.Leu329Phe)
c.1237C>T (p.Leu413Phe)
gnomAD v4
5g.132340633_132340634delinsCTCA1583125032MIR3936HG,SLC22A4c.1513_1514delinsCT (p.Leu505=)
n.561-5708_561-5707delinsAG
c.985_986delinsCT (p.Leu329=)
c.1237_1238delinsCT (p.Leu413=)
5g.132340634T>ACA360813188MIR3936HG,SLC22A4c.1514T>A (p.Leu505His)
n.561-5708A>T
c.986T>A (p.Leu329His)
c.1238T>A (p.Leu413His)
5g.132340634T>CCA360813189MIR3936HG,SLC22A4c.1514T>C (p.Leu505Pro)
n.561-5708A>G
c.986T>C (p.Leu329Pro)
c.1238T>C (p.Leu413Pro)
dbSNP gnomAD v3 gnomAD v4
5g.132340634T>GCA360813187MIR3936HG,SLC22A4c.1514T>G (p.Leu505Arg)
n.561-5708A>C
c.986T>G (p.Leu329Arg)
c.1238T>G (p.Leu413Arg)
gnomAD v4
5g.132340634T=CA1583125034MIR3936HG,SLC22A4c.1514T= (p.Leu505=)
n.561-5708A=
c.986T= (p.Leu329=)
c.1238T= (p.Leu413=)
5g.132340640dupCA3403713MIR3936HG,SLC22A4c.1520dup (p.Glu509Ter)
n.561-5708dup
c.992dup (p.Glu333Ter)
c.1244dup (p.Glu417Ter)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.132340640delCA3403712MIR3936HG,SLC22A4c.1520del (p.Phe507SerfsTer7)
n.561-5708del
c.992del (p.Phe331SerfsTer7)
c.1244del (p.Phe415SerfsTer7)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.132340635T>ACA446340363MIR3936HG,SLC22A4c.1515T>A (p.Leu505=)
n.561-5709A>T
c.987T>A (p.Leu329=)
c.1239T>A (p.Leu413=)
5g.132340635T>CCA446340366MIR3936HG,SLC22A4c.1515T>C (p.Leu505=)
n.561-5709A>G
c.987T>C (p.Leu329=)
c.1239T>C (p.Leu413=)
5g.132340635T>GCA446340367MIR3936HG,SLC22A4c.1515T>G (p.Leu505=)
n.561-5709A>C
c.987T>G (p.Leu329=)
c.1239T>G (p.Leu413=)
5g.132340636T>ACA360813193MIR3936HG,SLC22A4c.1516T>A (p.Phe506Ile)
n.561-5710A>T
c.988T>A (p.Phe330Ile)
c.1240T>A (p.Phe414Ile)
5g.132340636T>CCA360813196MIR3936HG,SLC22A4c.1516T>C (p.Phe506Leu)
n.561-5710A>G
c.988T>C (p.Phe330Leu)
c.1240T>C (p.Phe414Leu)
5g.132340636T>GCA360813198MIR3936HG,SLC22A4c.1516T>G (p.Phe506Val)
n.561-5710A>C
c.988T>G (p.Phe330Val)
c.1240T>G (p.Phe414Val)
5g.132340637T>ACA360813200MIR3936HG,SLC22A4c.1517T>A (p.Phe506Tyr)
n.561-5711A>T
c.989T>A (p.Phe330Tyr)
c.1241T>A (p.Phe414Tyr)
5g.132340637T>CCA360813201MIR3936HG,SLC22A4c.1517T>C (p.Phe506Ser)
n.561-5711A>G
c.989T>C (p.Phe330Ser)
c.1241T>C (p.Phe414Ser)
5g.132340637T>GCA360813206MIR3936HG,SLC22A4c.1517T>G (p.Phe506Cys)
n.561-5711A>C
c.989T>G (p.Phe330Cys)
c.1241T>G (p.Phe414Cys)
5g.132340638T>ACA360813207MIR3936HG,SLC22A4c.1518T>A (p.Phe506Leu)
n.561-5712A>T
c.990T>A (p.Phe330Leu)
c.1242T>A (p.Phe414Leu)
dbSNP gnomAD v3 gnomAD v4
5g.132340638T>CCA446340387MIR3936HG,SLC22A4c.1518T>C (p.Phe506=)
n.561-5712A>G
c.990T>C (p.Phe330=)
c.1242T>C (p.Phe414=)
dbSNP gnomAD v2 gnomAD v4
5g.132340638T>GCA360813208MIR3936HG,SLC22A4c.1518T>G (p.Phe506Leu)
n.561-5712A>C
c.990T>G (p.Phe330Leu)
c.1242T>G (p.Phe414Leu)
5g.132340638T=CA1583125035MIR3936HG,SLC22A4c.1518T= (p.Phe506=)
n.561-5712A=
c.990T= (p.Phe330=)
c.1242T= (p.Phe414=)
5g.132340639T>ACA360813210MIR3936HG,SLC22A4c.1519T>A (p.Phe507Ile)
n.561-5713A>T
c.991T>A (p.Phe331Ile)
c.1243T>A (p.Phe415Ile)
5g.132340639T>CCA360813212MIR3936HG,SLC22A4c.1519T>C (p.Phe507Leu)
n.561-5713A>G
c.991T>C (p.Phe331Leu)
c.1243T>C (p.Phe415Leu)
gnomAD v4
5g.132340639T>GCA360813215MIR3936HG,SLC22A4c.1519T>G (p.Phe507Val)
n.561-5713A>C
c.991T>G (p.Phe331Val)
c.1243T>G (p.Phe415Val)
5g.132340640T>ACA360813219MIR3936HG,SLC22A4c.1520T>A (p.Phe507Tyr)
n.561-5714A>T
c.992T>A (p.Phe331Tyr)
c.1244T>A (p.Phe415Tyr)
5g.132340640T>CCA3403714MIR3936HG,SLC22A4c.1520T>C (p.Phe507Ser)
n.561-5714A>G
c.992T>C (p.Phe331Ser)
c.1244T>C (p.Phe415Ser)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched