Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42901020delCA2638039655G6PC1c.144del (p.Ile49SerfsTer16)
n.209del
gnomAD v4
17g.42901019C>ACA399650846G6PC1c.143C>A (p.Pro48His)
n.208C>A
17g.42901019C>GCA399650849G6PC1c.143C>G (p.Pro48Arg)
n.208C>G
17g.42901019C>TCA399650848G6PC1c.143C>T (p.Pro48Leu)
n.208C>T
17g.42901020C>ACA500229365G6PC1c.144C>A (p.Pro48=)
n.209C>A
COSMIC
17g.42901020C>GCA500229366G6PC1c.144C>G (p.Pro48=)
n.209C>G
17g.42901020C>TCA500229367G6PC1c.144C>T (p.Pro48=)
n.209C>T
ClinVar dbSNP
17g.42901021A=CA2260692896G6PC1c.145A= (p.Ile49=)
n.210A=
17g.42901021A>CCA399650851G6PC1c.145A>C (p.Ile49Leu)
n.210A>C
gnomAD v4
17g.42901021A>GCA399650853G6PC1c.145A>G (p.Ile49Val)
n.210A>G
dbSNP gnomAD v3 gnomAD v4
17g.42901021A>TCA399650854G6PC1c.145A>T (p.Ile49Phe)
n.210A>T
17g.42901022T>ACA290783739G6PC1c.146T>A (p.Ile49Asn)
n.211T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42901022T>CCA399650855G6PC1c.146T>C (p.Ile49Thr)
n.211T>C
17g.42901022T>GCA399650856G6PC1c.146T>G (p.Ile49Ser)
n.211T>G
17g.42901022T=CA2260692897G6PC1c.146T= (p.Ile49=)
n.211T=
17g.42901023C>ACA500229368G6PC1c.147C>A (p.Ile49=)
n.212C>A
gnomAD v4
17g.42901023C=CA2260692898G6PC1c.147C= (p.Ile49=)
n.212C=
17g.42901023C>GCA399650858G6PC1c.147C>G (p.Ile49Met)
n.212C>G
17g.42901023C>TCA500229369G6PC1c.147C>T (p.Ile49=)
n.212C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42901024T>ACA399650860G6PC1c.148T>A (p.Trp50Arg)
n.213T>A
17g.42901024T>CCA399650862G6PC1c.148T>C (p.Trp50Arg)
n.213T>C
17g.42901024T>GCA399650864G6PC1c.148T>G (p.Trp50Gly)
n.213T>G
gnomAD v4
17g.42901025G>ACA399650872G6PC1c.149G>A (p.Trp50Ter)
n.214G>A
gnomAD v4
17g.42901025G>CCA399650870G6PC1c.149G>C (p.Trp50Ser)
n.214G>C
17g.42901025G>TCA399650867G6PC1c.149G>T (p.Trp50Leu)
n.214G>T
17g.42901025_42901027delinsGGTCA2260692899G6PC1c.149_151delinsGGT (p.Trp50=)
n.214_216delinsGGT
17g.42901026G>ACA399650873G6PC1c.150G>A (p.Trp50Ter)
n.215G>A
17g.42901026G>CCA399650874G6PC1c.150G>C (p.Trp50Cys)
n.215G>C
17g.42901026G>TCA399650876G6PC1c.150G>T (p.Trp50Cys)
n.215G>T
gnomAD v4
17g.42901026_42901027delCA16041842G6PC1c.150_151del (p.Trp50CysfsTer10)
n.215_216del
ClinVar dbSNP gnomAD v4
17g.42901027T>ACA399650882G6PC1c.151T>A (p.Phe51Ile)
n.216T>A
17g.42901027T>CCA399650887G6PC1c.151T>C (p.Phe51Leu)
n.216T>C
17g.42901027T>GCA399650889G6PC1c.151T>G (p.Phe51Val)
n.216T>G
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=

Number of alleles fetched