Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51935019G>ACA271180ATP7Bc.*1785C>T (n.*1785C>T)
c.*2879C>T (n.*2879C>T)
c.3514C>T (p.Pro1172Ser)
c.4135C>T (p.Pro1379Ser)
c.3802C>T (p.Pro1268Ser)
c.3883C>T (p.Pro1295Ser)
n.1458C>T
c.3901C>T (p.Pro1301Ser)
n.4274C>T
n.1001C>T
c.3070C>T (p.Pro1024Ser)
c.2845C>T (p.Pro949Ser)
c.3940C>T (p.Pro1314Ser)
c.1913C>T
c.*1236C>T (n.*1236C>T)
n.4879C>T
n.3480C>T
c.3991C>T (p.Pro1331Ser)
c.4039C>T (p.Pro1347Ser)
c.4099C>T (p.Pro1367Ser)
c.3649C>T (p.Pro1217Ser)
c.1951C>T (p.Pro651Ser)
c.1768C>T (p.Pro590Ser)
c.4000C>T (p.Pro1334Ser)
c.3952C>T (p.Pro1318Ser)
c.3721C>T (p.Pro1241Ser)
c.3622C>T (p.Pro1208Ser)
c.2803C>T (p.Pro935Ser)
n.4354C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51935019G=CA2091550598ATP7Bc.*1785C= (n.*1785C=)
c.*2879C= (n.*2879C=)
c.3514C= (p.Pro1172=)
c.4135C= (p.Pro1379=)
c.3802C= (p.Pro1268=)
c.3883C= (p.Pro1295=)
n.1458C=
c.3901C= (p.Pro1301=)
n.4274C=
n.1001C=
c.3070C= (p.Pro1024=)
c.2845C= (p.Pro949=)
c.3940C= (p.Pro1314=)
c.1913C=
c.*1236C= (n.*1236C=)
n.4879C=
n.3480C=
c.3991C= (p.Pro1331=)
c.4039C= (p.Pro1347=)
c.4099C= (p.Pro1367=)
c.3649C= (p.Pro1217=)
c.1951C= (p.Pro651=)
c.1768C= (p.Pro590=)
c.4000C= (p.Pro1334=)
c.3952C= (p.Pro1318=)
c.3721C= (p.Pro1241=)
c.3622C= (p.Pro1208=)
c.2803C= (p.Pro935=)
n.4354C=
 dbSNP

Number of alleles fetched