Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.765613C>ACA9724823SLC52A3c.162G>T (p.Gly54=)
n.213G>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765613C=CA2345350220SLC52A3c.162G= (p.Gly54=)
n.213G=
20g.765613C>GCA509542814SLC52A3c.162G>C (p.Gly54=)
n.213G>C
20g.765613C>TCA509542815SLC52A3c.162G>A (p.Gly54=)
n.213G>A
ClinVar gnomAD v4
20g.765614C>ACA407964411SLC52A3c.161G>T (p.Gly54Val)
n.212G>T
20g.765614C>GCA407964412SLC52A3c.161G>C (p.Gly54Ala)
n.212G>C
20g.765614C>TCA407964413SLC52A3c.161G>A (p.Gly54Glu)
n.212G>A
20g.765615C>ACA407964414SLC52A3c.160G>T (p.Gly54Trp)
n.211G>T
gnomAD v4
20g.765615C=CA2345350221SLC52A3c.160G= (p.Gly54=)
n.211G=
20g.765615C>GCA407964415SLC52A3c.160G>C (p.Gly54Arg)
n.211G>C
20g.765615C>TCA346971SLC52A3c.160G>A (p.Gly54Arg)
n.211G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.765616G>ACA9724824SLC52A3c.159C>T (p.Ile53=)
n.210C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765616G>CCA407964416SLC52A3c.159C>G (p.Ile53Met)
n.210C>G
gnomAD v4
20g.765616G=CA2345350222SLC52A3c.159C= (p.Ile53=)
n.210C=
20g.765616G>TCA509542818SLC52A3c.159C>A (p.Ile53=)
n.210C>A
20g.765620_765634delCA2651547893SLC52A3c.145_159del (p.Gln49_Ile53del)
n.196_210del
gnomAD v4
20g.765617A>CCA407964419SLC52A3c.158T>G (p.Ile53Ser)
n.209T>G
20g.765617A>GCA407964418SLC52A3c.158T>C (p.Ile53Thr)
n.209T>C
20g.765617A>TCA407964417SLC52A3c.158T>A (p.Ile53Asn)
n.209T>A
20g.765618T>ACA407964420SLC52A3c.157A>T (p.Ile53Phe)
n.208A>T
gnomAD v4
20g.765618T>CCA310679387SLC52A3c.157A>G (p.Ile53Val)
n.208A>G
dbSNP gnomAD v3 gnomAD v4
20g.765618T>GCA407964421SLC52A3c.157A>C (p.Ile53Leu)
n.208A>C
gnomAD v4
20g.765618T=CA2345350223SLC52A3c.157A= (p.Ile53=)
n.208A=
20g.765619G>ACA509542821SLC52A3c.156C>T (p.Asn52=)
n.207C>T
20g.765619G>CCA407964422SLC52A3c.156C>G (p.Asn52Lys)
n.207C>G
20g.765619G>TCA407964423SLC52A3c.156C>A (p.Asn52Lys)
n.207C>A
20g.765620T>ACA407964426SLC52A3c.155A>T (p.Asn52Ile)
n.206A>T
20g.765620T>CCA407964425SLC52A3c.155A>G (p.Asn52Ser)
n.206A>G
20g.765620T>GCA407964424SLC52A3c.155A>C (p.Asn52Thr)
n.206A>C
20g.765621T>ACA407964427SLC52A3c.154A>T (p.Asn52Tyr)
n.205A>T
20g.765621T>CCA407964428SLC52A3c.154A>G (p.Asn52Asp)
n.205A>G
20g.765621T>GCA407964429SLC52A3c.154A>C (p.Asn52His)
n.205A>C
20g.765622G>ACA509542825SLC52A3c.153C>T (p.Ala51=)
n.204C>T
20g.765622G>CCA509542826SLC52A3c.153C>G (p.Ala51=)
n.204C>G
20g.765622G>TCA509542827SLC52A3c.153C>A (p.Ala51=)
n.204C>A
20g.765623G>ACA407964430SLC52A3c.152C>T (p.Ala51Val)
n.203C>T
20g.765623G>CCA407964431SLC52A3c.152C>G (p.Ala51Gly)
n.203C>G
20g.765623G>TCA407964432SLC52A3c.152C>A (p.Ala51Asp)
n.203C>A
20g.765624C>ACA407964433SLC52A3c.151G>T (p.Ala51Ser)
n.202G>T
20g.765624C>GCA407964435SLC52A3c.151G>C (p.Ala51Pro)
n.202G>C
20g.765624C>TCA407964434SLC52A3c.151G>A (p.Ala51Thr)
n.202G>A
ClinVar dbSNP gnomAD v4
20g.765625C>ACA509542830SLC52A3c.150G>T (p.Leu50=)
n.201G>T
20g.765625C=CA2345350224SLC52A3c.150G= (p.Leu50=)
n.201G=
20g.765625C>GCA509542832SLC52A3c.150G>C (p.Leu50=)
n.201G>C
gnomAD v4
20g.765625C>TCA509542831SLC52A3c.150G>A (p.Leu50=)
n.201G>A
dbSNP gnomAD v4
20g.765626A>CCA407964436SLC52A3c.149T>G (p.Leu50Arg)
n.200T>G
20g.765626A>GCA407964437SLC52A3c.149T>C (p.Leu50Pro)
n.200T>C
20g.765626A>TCA407964438SLC52A3c.149T>A (p.Leu50Gln)
n.200T>A
20g.765627G>ACA509542833SLC52A3c.148C>T (p.Leu50=)
n.199C>T
gnomAD v4
20g.765627G>CCA407964439SLC52A3c.148C>G (p.Leu50Val)
n.199C>G

Number of alleles fetched