Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42901028T>ACA399650892G6PC1c.152T>A (p.Phe51Tyr)
n.217T>A
17g.42901028T>CCA399650896G6PC1c.152T>C (p.Phe51Ser)
n.217T>C
COSMIC
17g.42901028T>GCA399650899G6PC1c.152T>G (p.Phe51Cys)
n.217T>G
17g.42901029C>ACA399650902G6PC1c.153C>A (p.Phe51Leu)
n.218C>A
17g.42901029C>GCA399650905G6PC1c.153C>G (p.Phe51Leu)
n.218C>G
17g.42901029C>TCA500229370G6PC1c.153C>T (p.Phe51=)
n.218C>T
17g.42901030C>ACA399650913G6PC1c.154C>A (p.His52Asn)
n.219C>A
17g.42901030C>GCA399650906G6PC1c.154C>G (p.His52Asp)
n.219C>G
17g.42901030C>TCA399650909G6PC1c.154C>T (p.His52Tyr)
n.219C>T
17g.42901031A=CA2260692900G6PC1c.155A= (p.His52=)
n.220A=
17g.42901031A>CCA399650919G6PC1c.155A>C (p.His52Pro)
n.220A>C
17g.42901031A>GCA399650923G6PC1c.155A>G (p.His52Arg)
n.220A>G
dbSNP
17g.42901031A>TCA399650927G6PC1c.155A>T (p.His52Leu)
n.220A>T
ClinVar
17g.42901032T>ACA290783742G6PC1c.156T>A (p.His52Gln)
n.221T>A
dbSNP
17g.42901032T>CCA500229371G6PC1c.156T>C (p.His52=)
n.221T>C
ClinVar gnomAD v4
17g.42901032T>GCA399650933G6PC1c.156T>G (p.His52Gln)
n.221T>G
17g.42901032T=CA2260692901G6PC1c.156T= (p.His52=)
n.221T=
17g.42901036_42901100dupCA2499224334G6PC1c.160_224dup (p.Lys76ArgfsTer11)
n.225_289dup
ClinVar dbSNP
17g.42901033C>ACA399650937G6PC1c.157C>A (p.Leu53Ile)
n.222C>A
17g.42901033C>GCA399650939G6PC1c.157C>G (p.Leu53Val)
n.222C>G
17g.42901033C>TCA399650949G6PC1c.157C>T (p.Leu53Phe)
n.222C>T
gnomAD v4
17g.42901034T>ACA399650952G6PC1c.158T>A (p.Leu53His)
n.223T>A
17g.42901034T>CCA399650954G6PC1c.158T>C (p.Leu53Pro)
n.223T>C
gnomAD v4
17g.42901034T>GCA399650957G6PC1c.158T>G (p.Leu53Arg)
n.223T>G
17g.42901035T>ACA500229374G6PC1c.159T>A (p.Leu53=)
n.224T>A
17g.42901035T>CCA500229372G6PC1c.159T>C (p.Leu53=)
n.224T>C
17g.42901035T>GCA500229373G6PC1c.159T>G (p.Leu53=)
n.224T>G
17g.42901036C>ACA399650961G6PC1c.160C>A (p.Gln54Lys)
n.225C>A
17g.42901036C>GCA399650960G6PC1c.160C>G (p.Gln54Glu)
n.225C>G
17g.42901036C>TCA399650959G6PC1c.160C>T (p.Gln54Ter)
n.225C>T
17g.42901037A=CA2260692902G6PC1c.161A= (p.Gln54=)
n.226A=
17g.42901037A>CCA16041843G6PC1c.161A>C (p.Gln54Pro)
n.226A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42901037A>GCA399650967G6PC1c.161A>G (p.Gln54Arg)
n.226A>G
dbSNP gnomAD v4
17g.42901037A>TCA399650964G6PC1c.161A>T (p.Gln54Leu)
n.226A>T
17g.42901038G>ACA500229375G6PC1c.162G>A (p.Gln54=)
n.227G>A
gnomAD v4
17g.42901038G>CCA399650969G6PC1c.162G>C (p.Gln54His)
n.227G>C
17g.42901038G>TCA399650973G6PC1c.162G>T (p.Gln54His)
n.227G>T
17g.42901039G>ACA399650976G6PC1c.163G>A (p.Glu55Lys)
n.228G>A
17g.42901039G>CCA399650979G6PC1c.163G>C (p.Glu55Gln)
n.228G>C
17g.42901039G>TCA399650982G6PC1c.163G>T (p.Glu55Ter)
n.228G>T
17g.42901040A>CCA399650986G6PC1c.164A>C (p.Glu55Ala)
n.229A>C
17g.42901040A>GCA399650990G6PC1c.164A>G (p.Glu55Gly)
n.229A>G
17g.42901040A>TCA399650993G6PC1c.164A>T (p.Glu55Val)
n.229A>T
17g.42901041A>CCA399650997G6PC1c.165A>C (p.Glu55Asp)
n.230A>C
17g.42901041A>GCA500229376G6PC1c.165A>G (p.Glu55=)
n.230A>G
17g.42901041A>TCA399651000G6PC1c.165A>T (p.Glu55Asp)
n.230A>T
17g.42901042G>ACA399651017G6PC1c.166G>A (p.Ala56Thr)
n.231G>A
dbSNP gnomAD v3 gnomAD v4
17g.42901042G>CCA399651020G6PC1c.166G>C (p.Ala56Pro)
n.231G>C
17g.42901042G=CA2260692903G6PC1c.166G= (p.Ala56=)
n.231G=
17g.42901042G>TCA399651027G6PC1c.166G>T (p.Ala56Ser)
n.231G>T

Number of alleles fetched