Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149379300_149379301delinsACCA1671916248TAB2n.1800_1801delinsAC
c.1385_1386delinsAC (p.Tyr462=)
c.533_534delinsAC (p.Tyr178=)
c.1289_1290delinsAC (p.Tyr430=)
6g.149379301delCA10602931TAB2n.1801del
c.1386del (p.Tyr462Ter)
c.534del (p.Tyr178Ter)
c.1290del (p.Tyr430Ter)
ClinVar dbSNP
6g.149379301C>ACA365999307TAB2n.1801C>A
c.1386C>A (p.Tyr462Ter)
c.534C>A (p.Tyr178Ter)
c.1290C>A (p.Tyr430Ter)
6g.149379301C=CA1671916255TAB2n.1801C=
c.1386C= (p.Tyr462=)
c.534C= (p.Tyr178=)
c.1290C= (p.Tyr430=)
6g.149379301C>GCA365999309TAB2n.1801C>G
c.1386C>G (p.Tyr462Ter)
c.534C>G (p.Tyr178Ter)
c.1290C>G (p.Tyr430Ter)
6g.149379301C>TCA452720456TAB2n.1801C>T
c.1386C>T (p.Tyr462=)
c.534C>T (p.Tyr178=)
c.1290C>T (p.Tyr430=)
dbSNP
6g.149379302A>CCA365999312TAB2n.1802A>C
c.1387A>C (p.Thr463Pro)
c.535A>C (p.Thr179Pro)
c.1291A>C (p.Thr431Pro)
6g.149379302A>GCA365999315TAB2n.1802A>G
c.1387A>G (p.Thr463Ala)
c.535A>G (p.Thr179Ala)
c.1291A>G (p.Thr431Ala)
6g.149379302A>TCA365999316TAB2n.1802A>T
c.1387A>T (p.Thr463Ser)
c.535A>T (p.Thr179Ser)
c.1291A>T (p.Thr431Ser)
6g.149379303C>ACA365999319TAB2n.1803C>A
c.1388C>A (p.Thr463Asn)
c.536C>A (p.Thr179Asn)
c.1292C>A (p.Thr431Asn)
6g.149379303C>GCA365999321TAB2n.1803C>G
c.1388C>G (p.Thr463Ser)
c.536C>G (p.Thr179Ser)
c.1292C>G (p.Thr431Ser)
6g.149379303C>TCA365999322TAB2n.1803C>T
c.1388C>T (p.Thr463Ile)
c.536C>T (p.Thr179Ile)
c.1292C>T (p.Thr431Ile)
gnomAD v4 COSMIC
6g.149379304T>ACA452720465TAB2n.1804T>A
c.1389T>A (p.Thr463=)
c.537T>A (p.Thr179=)
c.1293T>A (p.Thr431=)
6g.149379304T>CCA452720467TAB2n.1804T>C
c.1389T>C (p.Thr463=)
c.537T>C (p.Thr179=)
c.1293T>C (p.Thr431=)
6g.149379304T>GCA452720464TAB2n.1804T>G
c.1389T>G (p.Thr463=)
c.537T>G (p.Thr179=)
c.1293T>G (p.Thr431=)
6g.149379305T>ACA365999325TAB2n.1805T>A
c.1390T>A (p.Phe464Ile)
c.538T>A (p.Phe180Ile)
c.1294T>A (p.Phe432Ile)
6g.149379305T>CCA365999328TAB2n.1805T>C
c.1390T>C (p.Phe464Leu)
c.538T>C (p.Phe180Leu)
c.1294T>C (p.Phe432Leu)
gnomAD v4
6g.149379305T>GCA365999326TAB2n.1805T>G
c.1390T>G (p.Phe464Val)
c.538T>G (p.Phe180Val)
c.1294T>G (p.Phe432Val)
6g.149379306T>ACA365999331TAB2n.1806T>A
c.1391T>A (p.Phe464Tyr)
c.539T>A (p.Phe180Tyr)
c.1295T>A (p.Phe432Tyr)
6g.149379306T>CCA365999332TAB2n.1806T>C
c.1391T>C (p.Phe464Ser)
c.539T>C (p.Phe180Ser)
c.1295T>C (p.Phe432Ser)
6g.149379306T>GCA365999335TAB2n.1806T>G
c.1391T>G (p.Phe464Cys)
c.539T>G (p.Phe180Cys)
c.1295T>G (p.Phe432Cys)
6g.149379307C>ACA365999336TAB2n.1807C>A
c.1392C>A (p.Phe464Leu)
c.540C>A (p.Phe180Leu)
c.1296C>A (p.Phe432Leu)
gnomAD v4
6g.149379307C=CA1671916259TAB2n.1807C=
c.1392C= (p.Phe464=)
c.540C= (p.Phe180=)
c.1296C= (p.Phe432=)
6g.149379307C>GCA149917633TAB2n.1807C>G
c.1392C>G (p.Phe464Leu)
c.540C>G (p.Phe180Leu)
c.1296C>G (p.Phe432Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149379307C>TCA452720475TAB2n.1807C>T
c.1392C>T (p.Phe464=)
c.540C>T (p.Phe180=)
c.1296C>T (p.Phe432=)
gnomAD v4
6g.149379308A>CCA365999339TAB2n.1808A>C
c.1393A>C (p.Lys465Gln)
c.541A>C (p.Lys181Gln)
c.1297A>C (p.Lys433Gln)
6g.149379308A>GCA365999341TAB2n.1808A>G
c.1393A>G (p.Lys465Glu)
c.541A>G (p.Lys181Glu)
c.1297A>G (p.Lys433Glu)
gnomAD v4
6g.149379308A>TCA365999343TAB2n.1808A>T
c.1393A>T (p.Lys465Ter)
c.541A>T (p.Lys181Ter)
c.1297A>T (p.Lys433Ter)
6g.149379309A>CCA365999345TAB2n.1809A>C
c.1394A>C (p.Lys465Thr)
c.542A>C (p.Lys181Thr)
c.1298A>C (p.Lys433Thr)
6g.149379309A>GCA365999347TAB2n.1809A>G
c.1394A>G (p.Lys465Arg)
c.542A>G (p.Lys181Arg)
c.1298A>G (p.Lys433Arg)
6g.149379309A>TCA365999349TAB2n.1809A>T
c.1394A>T (p.Lys465Ile)
c.542A>T (p.Lys181Ile)
c.1298A>T (p.Lys433Ile)
6g.149379310A>CCA365999351TAB2n.1810A>C
c.1395A>C (p.Lys465Asn)
c.543A>C (p.Lys181Asn)
c.1299A>C (p.Lys433Asn)
6g.149379310A>GCA452720487TAB2n.1810A>G
c.1395A>G (p.Lys465=)
c.543A>G (p.Lys181=)
c.1299A>G (p.Lys433=)
gnomAD v4
6g.149379310A>TCA365999353TAB2n.1810A>T
c.1395A>T (p.Lys465Asn)
c.543A>T (p.Lys181Asn)
c.1299A>T (p.Lys433Asn)
6g.149379311A=CA1671916261TAB2n.1811A=
c.1396A= (p.Ile466=)
c.544A= (p.Ile182=)
c.1300A= (p.Ile434=)
6g.149379311A>CCA365999356TAB2n.1811A>C
c.1396A>C (p.Ile466Leu)
c.544A>C (p.Ile182Leu)
c.1300A>C (p.Ile434Leu)
6g.149379311A>GCA365999359TAB2n.1811A>G
c.1396A>G (p.Ile466Val)
c.544A>G (p.Ile182Val)
c.1300A>G (p.Ile434Val)
6g.149379311A>TCA365999357TAB2n.1811A>T
c.1396A>T (p.Ile466Phe)
c.544A>T (p.Ile182Phe)
c.1300A>T (p.Ile434Phe)
6g.149379312T>ACA365999361TAB2n.1812T>A
c.1397T>A (p.Ile466Asn)
c.545T>A (p.Ile182Asn)
c.1301T>A (p.Ile434Asn)
6g.149379312T>CCA365999362TAB2n.1812T>C
c.1397T>C (p.Ile466Thr)
c.545T>C (p.Ile182Thr)
c.1301T>C (p.Ile434Thr)
COSMIC
6g.149379312T>GCA365999364TAB2n.1812T>G
c.1397T>G (p.Ile466Ser)
c.545T>G (p.Ile182Ser)
c.1301T>G (p.Ile434Ser)
6g.149379313dupCA1671916263TAB2n.1813dup
c.1398dup (p.Thr467TyrfsTer6)
c.546dup (p.Thr183TyrfsTer6)
c.1302dup (p.Thr435TyrfsTer6)
ClinVar dbSNP
6g.149379313T>ACA452720491TAB2n.1813T>A
c.1398T>A (p.Ile466=)
c.546T>A (p.Ile182=)
c.1302T>A (p.Ile434=)
6g.149379313T>CCA452720493TAB2n.1813T>C
c.1398T>C (p.Ile466=)
c.546T>C (p.Ile182=)
c.1302T>C (p.Ile434=)
6g.149379313T>GCA365999366TAB2n.1813T>G
c.1398T>G (p.Ile466Met)
c.546T>G (p.Ile182Met)
c.1302T>G (p.Ile434Met)
6g.149379314A>CCA365999367TAB2n.1814A>C
c.1399A>C (p.Thr467Pro)
c.547A>C (p.Thr183Pro)
c.1303A>C (p.Thr435Pro)
6g.149379314A>GCA365999368TAB2n.1814A>G
c.1399A>G (p.Thr467Ala)
c.547A>G (p.Thr183Ala)
c.1303A>G (p.Thr435Ala)
6g.149379314A>TCA365999369TAB2n.1814A>T
c.1399A>T (p.Thr467Ser)
c.547A>T (p.Thr183Ser)
c.1303A>T (p.Thr435Ser)
6g.149379315C>ACA365999370TAB2n.1815C>A
c.1400C>A (p.Thr467Lys)
c.548C>A (p.Thr183Lys)
c.1304C>A (p.Thr435Lys)
6g.149379315C>GCA365999371TAB2n.1815C>G
c.1400C>G (p.Thr467Arg)
c.548C>G (p.Thr183Arg)
c.1304C>G (p.Thr435Arg)

Number of alleles fetched