Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127426107C>ACA428618197PROCc.558C>A (p.Pro186=)
c.121-2250C>A
c.660C>A (p.Pro220=)
c.501C>A (p.Pro167=)
n.144C>A
c.741C>A (p.Pro247=)
c.723C>A (p.Pro241=)
c.621C>A (p.Pro207=)
c.801C>A (p.Pro267=)
c.903C>A (p.Pro301=)
c.843C>A (p.Pro281=)
n.4478G>T
c.726C>A (p.Pro242=)
c.744C>A (p.Pro248=)
c.534C>A (p.Pro178=)
c.552C>A (p.Pro184=)
2g.127426107C>GCA428618198PROCc.558C>G (p.Pro186=)
c.121-2250C>G
c.660C>G (p.Pro220=)
c.501C>G (p.Pro167=)
n.144C>G
c.741C>G (p.Pro247=)
c.723C>G (p.Pro241=)
c.621C>G (p.Pro207=)
c.801C>G (p.Pro267=)
c.903C>G (p.Pro301=)
c.843C>G (p.Pro281=)
n.4478G>C
c.726C>G (p.Pro242=)
c.744C>G (p.Pro248=)
c.534C>G (p.Pro178=)
c.552C>G (p.Pro184=)
2g.127426107C>TCA428618199PROCc.558C>T (p.Pro186=)
c.121-2250C>T
c.660C>T (p.Pro220=)
c.501C>T (p.Pro167=)
n.144C>T
c.741C>T (p.Pro247=)
c.723C>T (p.Pro241=)
c.621C>T (p.Pro207=)
c.801C>T (p.Pro267=)
c.903C>T (p.Pro301=)
c.843C>T (p.Pro281=)
n.4478G>A
c.726C>T (p.Pro242=)
c.744C>T (p.Pro248=)
c.534C>T (p.Pro178=)
c.552C>T (p.Pro184=)
gnomAD v4
2g.127426108T>ACA348401063PROCc.559T>A (p.Trp187Arg)
c.121-2249T>A
c.661T>A (p.Trp221Arg)
c.502T>A (p.Trp168Arg)
n.145T>A
c.742T>A (p.Trp248Arg)
c.724T>A (p.Trp242Arg)
c.622T>A (p.Trp208Arg)
c.802T>A (p.Trp268Arg)
c.904T>A (p.Trp302Arg)
c.844T>A (p.Trp282Arg)
n.4477A>T
c.727T>A (p.Trp243Arg)
c.745T>A (p.Trp249Arg)
c.535T>A (p.Trp179Arg)
c.553T>A (p.Trp185Arg)
2g.127426108T>CCA348401058PROCc.559T>C (p.Trp187Arg)
c.121-2249T>C
c.661T>C (p.Trp221Arg)
c.502T>C (p.Trp168Arg)
n.145T>C
c.742T>C (p.Trp248Arg)
c.724T>C (p.Trp242Arg)
c.622T>C (p.Trp208Arg)
c.802T>C (p.Trp268Arg)
c.904T>C (p.Trp302Arg)
c.844T>C (p.Trp282Arg)
n.4477A>G
c.727T>C (p.Trp243Arg)
c.745T>C (p.Trp249Arg)
c.535T>C (p.Trp179Arg)
c.553T>C (p.Trp185Arg)
2g.127426108T>GCA348401060PROCc.559T>G (p.Trp187Gly)
c.121-2249T>G
c.661T>G (p.Trp221Gly)
c.502T>G (p.Trp168Gly)
n.145T>G
c.742T>G (p.Trp248Gly)
c.724T>G (p.Trp242Gly)
c.622T>G (p.Trp208Gly)
c.802T>G (p.Trp268Gly)
c.904T>G (p.Trp302Gly)
c.844T>G (p.Trp282Gly)
n.4477A>C
c.727T>G (p.Trp243Gly)
c.745T>G (p.Trp249Gly)
c.535T>G (p.Trp179Gly)
c.553T>G (p.Trp185Gly)
2g.127426109G>ACA55348218PROCc.560G>A (p.Trp187Ter)
c.121-2248G>A
c.662G>A (p.Trp221Ter)
c.503G>A (p.Trp168Ter)
n.146G>A
c.743G>A (p.Trp248Ter)
c.725G>A (p.Trp242Ter)
c.623G>A (p.Trp208Ter)
c.803G>A (p.Trp268Ter)
c.905G>A (p.Trp302Ter)
c.845G>A (p.Trp282Ter)
n.4476C>T
c.728G>A (p.Trp243Ter)
c.746G>A (p.Trp249Ter)
c.536G>A (p.Trp179Ter)
c.554G>A (p.Trp185Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127426109G>CCA348401068PROCc.560G>C (p.Trp187Ser)
c.121-2248G>C
c.662G>C (p.Trp221Ser)
c.503G>C (p.Trp168Ser)
n.146G>C
c.743G>C (p.Trp248Ser)
c.725G>C (p.Trp242Ser)
c.623G>C (p.Trp208Ser)
c.803G>C (p.Trp268Ser)
c.905G>C (p.Trp302Ser)
c.845G>C (p.Trp282Ser)
n.4476C>G
c.728G>C (p.Trp243Ser)
c.746G>C (p.Trp249Ser)
c.536G>C (p.Trp179Ser)
c.554G>C (p.Trp185Ser)
2g.127426109G=CA1286883403PROCc.560G= (p.Trp187=)
c.121-2248G=
c.662G= (p.Trp221=)
c.503G= (p.Trp168=)
n.146G=
c.743G= (p.Trp248=)
c.725G= (p.Trp242=)
c.623G= (p.Trp208=)
c.803G= (p.Trp268=)
c.905G= (p.Trp302=)
c.845G= (p.Trp282=)
n.4476C=
c.728G= (p.Trp243=)
c.746G= (p.Trp249=)
c.536G= (p.Trp179=)
c.554G= (p.Trp185=)
2g.127426109G>TCA348401071PROCc.560G>T (p.Trp187Leu)
c.121-2248G>T
c.662G>T (p.Trp221Leu)
c.503G>T (p.Trp168Leu)
n.146G>T
c.743G>T (p.Trp248Leu)
c.725G>T (p.Trp242Leu)
c.623G>T (p.Trp208Leu)
c.803G>T (p.Trp268Leu)
c.905G>T (p.Trp302Leu)
c.845G>T (p.Trp282Leu)
n.4476C>A
c.728G>T (p.Trp243Leu)
c.746G>T (p.Trp249Leu)
c.536G>T (p.Trp179Leu)
c.554G>T (p.Trp185Leu)
2g.127426110G>ACA348401073PROCc.561G>A (p.Trp187Ter)
c.121-2247G>A
c.663G>A (p.Trp221Ter)
c.504G>A (p.Trp168Ter)
n.147G>A
c.744G>A (p.Trp248Ter)
c.726G>A (p.Trp242Ter)
c.624G>A (p.Trp208Ter)
c.804G>A (p.Trp268Ter)
c.906G>A (p.Trp302Ter)
c.846G>A (p.Trp282Ter)
n.4475C>T
c.729G>A (p.Trp243Ter)
c.747G>A (p.Trp249Ter)
c.537G>A (p.Trp179Ter)
c.555G>A (p.Trp185Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127426110G>CCA348401076PROCc.561G>C (p.Trp187Cys)
c.121-2247G>C
c.663G>C (p.Trp221Cys)
c.504G>C (p.Trp168Cys)
n.147G>C
c.744G>C (p.Trp248Cys)
c.726G>C (p.Trp242Cys)
c.624G>C (p.Trp208Cys)
c.804G>C (p.Trp268Cys)
c.906G>C (p.Trp302Cys)
c.846G>C (p.Trp282Cys)
n.4475C>G
c.729G>C (p.Trp243Cys)
c.747G>C (p.Trp249Cys)
c.537G>C (p.Trp179Cys)
c.555G>C (p.Trp185Cys)
2g.127426110G=CA1286883404PROCc.561G= (p.Trp187=)
c.121-2247G=
c.663G= (p.Trp221=)
c.504G= (p.Trp168=)
n.147G=
c.744G= (p.Trp248=)
c.726G= (p.Trp242=)
c.624G= (p.Trp208=)
c.804G= (p.Trp268=)
c.906G= (p.Trp302=)
c.846G= (p.Trp282=)
n.4475C=
c.729G= (p.Trp243=)
c.747G= (p.Trp249=)
c.537G= (p.Trp179=)
c.555G= (p.Trp185=)
2g.127426110G>TCA348401078PROCc.561G>T (p.Trp187Cys)
c.121-2247G>T
c.663G>T (p.Trp221Cys)
c.504G>T (p.Trp168Cys)
n.147G>T
c.744G>T (p.Trp248Cys)
c.726G>T (p.Trp242Cys)
c.624G>T (p.Trp208Cys)
c.804G>T (p.Trp268Cys)
c.906G>T (p.Trp302Cys)
c.846G>T (p.Trp282Cys)
n.4475C>A
c.729G>T (p.Trp243Cys)
c.747G>T (p.Trp249Cys)
c.537G>T (p.Trp179Cys)
c.555G>T (p.Trp185Cys)
2g.127426110_127426111delinsGACA1286883405PROCc.561_562delinsGA (p.Trp187=)
c.121-2247_121-2246delinsGA
c.663_664delinsGA (p.Trp221=)
c.504_505delinsGA (p.Trp168=)
n.147_148delinsGA
c.744_745delinsGA (p.Trp248=)
c.726_727delinsGA (p.Trp242=)
c.624_625delinsGA (p.Trp208=)
c.804_805delinsGA (p.Trp268=)
c.906_907delinsGA (p.Trp302=)
c.846_847delinsGA (p.Trp282=)
n.4474_4475delinsTC
c.729_730delinsGA (p.Trp243=)
c.747_748delinsGA (p.Trp249=)
c.537_538delinsGA (p.Trp179=)
c.555_556delinsGA (p.Trp185=)
2g.127426111A>CCA348401082PROCc.562A>C (p.Lys188Gln)
c.121-2246A>C
c.664A>C (p.Lys222Gln)
c.505A>C (p.Lys169Gln)
n.148A>C
c.745A>C (p.Lys249Gln)
c.727A>C (p.Lys243Gln)
c.625A>C (p.Lys209Gln)
c.805A>C (p.Lys269Gln)
c.907A>C (p.Lys303Gln)
c.847A>C (p.Lys283Gln)
n.4474T>G
c.730A>C (p.Lys244Gln)
c.748A>C (p.Lys250Gln)
c.538A>C (p.Lys180Gln)
c.556A>C (p.Lys186Gln)
2g.127426111A>GCA348401083PROCc.562A>G (p.Lys188Glu)
c.121-2246A>G
c.664A>G (p.Lys222Glu)
c.505A>G (p.Lys169Glu)
n.148A>G
c.745A>G (p.Lys249Glu)
c.727A>G (p.Lys243Glu)
c.625A>G (p.Lys209Glu)
c.805A>G (p.Lys269Glu)
c.907A>G (p.Lys303Glu)
c.847A>G (p.Lys283Glu)
n.4474T>C
c.730A>G (p.Lys244Glu)
c.748A>G (p.Lys250Glu)
c.538A>G (p.Lys180Glu)
c.556A>G (p.Lys186Glu)
gnomAD v4
2g.127426111A>TCA348401086PROCc.562A>T (p.Lys188Ter)
c.121-2246A>T
c.664A>T (p.Lys222Ter)
c.505A>T (p.Lys169Ter)
n.148A>T
c.745A>T (p.Lys249Ter)
c.727A>T (p.Lys243Ter)
c.625A>T (p.Lys209Ter)
c.805A>T (p.Lys269Ter)
c.907A>T (p.Lys303Ter)
c.847A>T (p.Lys283Ter)
n.4474T>A
c.730A>T (p.Lys244Ter)
c.748A>T (p.Lys250Ter)
c.538A>T (p.Lys180Ter)
c.556A>T (p.Lys186Ter)
2g.127426112delCA535639811PROCc.563del (p.Lys188SerfsTer10)
c.121-2245del
c.665del (p.Lys222SerfsTer10)
c.506del (p.Lys169SerfsTer?)
n.149del
c.746del (p.Lys249SerfsTer10)
c.728del (p.Lys243SerfsTer10)
c.626del (p.Lys209SerfsTer10)
c.806del (p.Lys269SerfsTer10)
c.908del (p.Lys303SerfsTer10)
c.848del (p.Lys283SerfsTer10)
n.4474del
c.731del (p.Lys244SerfsTer10)
c.749del (p.Lys250SerfsTer10)
c.506del (p.Lys169SerfsTer10)
c.539del (p.Lys180SerfsTer10)
c.557del (p.Lys186SerfsTer10)
dbSNP gnomAD v2 gnomAD v4
2g.127426112A=CA1286883406PROCc.563A= (p.Lys188=)
c.121-2245A=
c.665A= (p.Lys222=)
c.506A= (p.Lys169=)
n.149A=
c.746A= (p.Lys249=)
c.728A= (p.Lys243=)
c.626A= (p.Lys209=)
c.806A= (p.Lys269=)
c.908A= (p.Lys303=)
c.848A= (p.Lys283=)
n.4473T=
c.731A= (p.Lys244=)
c.749A= (p.Lys250=)
c.539A= (p.Lys180=)
c.557A= (p.Lys186=)
2g.127426112A>CCA348401089PROCc.563A>C (p.Lys188Thr)
c.121-2245A>C
c.665A>C (p.Lys222Thr)
c.506A>C (p.Lys169Thr)
n.149A>C
c.746A>C (p.Lys249Thr)
c.728A>C (p.Lys243Thr)
c.626A>C (p.Lys209Thr)
c.806A>C (p.Lys269Thr)
c.908A>C (p.Lys303Thr)
c.848A>C (p.Lys283Thr)
n.4473T>G
c.731A>C (p.Lys244Thr)
c.749A>C (p.Lys250Thr)
c.539A>C (p.Lys180Thr)
c.557A>C (p.Lys186Thr)
2g.127426112A>GCA1859387PROCc.563A>G (p.Lys188Arg)
c.121-2245A>G
c.665A>G (p.Lys222Arg)
c.506A>G (p.Lys169Arg)
n.149A>G
c.746A>G (p.Lys249Arg)
c.728A>G (p.Lys243Arg)
c.626A>G (p.Lys209Arg)
c.806A>G (p.Lys269Arg)
c.908A>G (p.Lys303Arg)
c.848A>G (p.Lys283Arg)
n.4473T>C
c.731A>G (p.Lys244Arg)
c.749A>G (p.Lys250Arg)
c.539A>G (p.Lys180Arg)
c.557A>G (p.Lys186Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426112A>TCA348401094PROCc.563A>T (p.Lys188Met)
c.121-2245A>T
c.665A>T (p.Lys222Met)
c.506A>T (p.Lys169Met)
n.149A>T
c.746A>T (p.Lys249Met)
c.728A>T (p.Lys243Met)
c.626A>T (p.Lys209Met)
c.806A>T (p.Lys269Met)
c.908A>T (p.Lys303Met)
c.848A>T (p.Lys283Met)
n.4473T>A
c.731A>T (p.Lys244Met)
c.749A>T (p.Lys250Met)
c.539A>T (p.Lys180Met)
c.557A>T (p.Lys186Met)
2g.127426113G>ACA428618203PROCc.564G>A (p.Lys188=)
c.121-2244G>A
c.666G>A (p.Lys222=)
c.507G>A (p.Lys169=)
n.150G>A
c.747G>A (p.Lys249=)
c.729G>A (p.Lys243=)
c.627G>A (p.Lys209=)
c.807G>A (p.Lys269=)
c.909G>A (p.Lys303=)
c.849G>A (p.Lys283=)
n.4472C>T
c.732G>A (p.Lys244=)
c.750G>A (p.Lys250=)
c.540G>A (p.Lys180=)
c.558G>A (p.Lys186=)
2g.127426113G>CCA348401096PROCc.564G>C (p.Lys188Asn)
c.121-2244G>C
c.666G>C (p.Lys222Asn)
c.507G>C (p.Lys169Asn)
n.150G>C
c.747G>C (p.Lys249Asn)
c.729G>C (p.Lys243Asn)
c.627G>C (p.Lys209Asn)
c.807G>C (p.Lys269Asn)
c.909G>C (p.Lys303Asn)
c.849G>C (p.Lys283Asn)
n.4472C>G
c.732G>C (p.Lys244Asn)
c.750G>C (p.Lys250Asn)
c.540G>C (p.Lys180Asn)
c.558G>C (p.Lys186Asn)
2g.127426113G>TCA348401095PROCc.564G>T (p.Lys188Asn)
c.121-2244G>T
c.666G>T (p.Lys222Asn)
c.507G>T (p.Lys169Asn)
n.150G>T
c.747G>T (p.Lys249Asn)
c.729G>T (p.Lys243Asn)
c.627G>T (p.Lys209Asn)
c.807G>T (p.Lys269Asn)
c.909G>T (p.Lys303Asn)
c.849G>T (p.Lys283Asn)
n.4472C>A
c.732G>T (p.Lys244Asn)
c.750G>T (p.Lys250Asn)
c.540G>T (p.Lys180Asn)
c.558G>T (p.Lys186Asn)
gnomAD v4
2g.127426114C>ACA428618204PROCc.565C>A (p.Arg189=)
c.121-2243C>A
c.667C>A (p.Arg223=)
c.508C>A (p.Arg170=)
n.151C>A
c.748C>A (p.Arg250=)
c.730C>A (p.Arg244=)
c.628C>A (p.Arg210=)
c.808C>A (p.Arg270=)
c.910C>A (p.Arg304=)
c.850C>A (p.Arg284=)
n.4471G>T
c.733C>A (p.Arg245=)
c.751C>A (p.Arg251=)
c.541C>A (p.Arg181=)
c.559C>A (p.Arg187=)
2g.127426114C=CA1286883407PROCc.565C= (p.Arg189=)
c.121-2243C=
c.667C= (p.Arg223=)
c.508C= (p.Arg170=)
n.151C=
c.748C= (p.Arg250=)
c.730C= (p.Arg244=)
c.628C= (p.Arg210=)
c.808C= (p.Arg270=)
c.910C= (p.Arg304=)
c.850C= (p.Arg284=)
n.4471G=
c.733C= (p.Arg245=)
c.751C= (p.Arg251=)
c.541C= (p.Arg181=)
c.559C= (p.Arg187=)
2g.127426114C>GCA348401100PROCc.565C>G (p.Arg189Gly)
c.121-2243C>G
c.667C>G (p.Arg223Gly)
c.508C>G (p.Arg170Gly)
n.151C>G
c.748C>G (p.Arg250Gly)
c.730C>G (p.Arg244Gly)
c.628C>G (p.Arg210Gly)
c.808C>G (p.Arg270Gly)
c.910C>G (p.Arg304Gly)
c.850C>G (p.Arg284Gly)
n.4471G>C
c.733C>G (p.Arg245Gly)
c.751C>G (p.Arg251Gly)
c.541C>G (p.Arg181Gly)
c.559C>G (p.Arg187Gly)
2g.127426114C>TCA211732PROCc.565C>T (p.Arg189Trp)
c.121-2243C>T
c.667C>T (p.Arg223Trp)
c.508C>T (p.Arg170Trp)
n.151C>T
c.748C>T (p.Arg250Trp)
c.730C>T (p.Arg244Trp)
c.628C>T (p.Arg210Trp)
c.808C>T (p.Arg270Trp)
c.910C>T (p.Arg304Trp)
c.850C>T (p.Arg284Trp)
n.4471G>A
c.733C>T (p.Arg245Trp)
c.751C>T (p.Arg251Trp)
c.541C>T (p.Arg181Trp)
c.559C>T (p.Arg187Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426115G>ACA348401104PROCc.566G>A (p.Arg189Gln)
c.121-2242G>A
c.668G>A (p.Arg223Gln)
c.509G>A (p.Arg170Gln)
n.152G>A
c.749G>A (p.Arg250Gln)
c.731G>A (p.Arg244Gln)
c.629G>A (p.Arg210Gln)
c.809G>A (p.Arg270Gln)
c.911G>A (p.Arg304Gln)
c.851G>A (p.Arg284Gln)
n.4470C>T
c.734G>A (p.Arg245Gln)
c.752G>A (p.Arg251Gln)
c.542G>A (p.Arg181Gln)
c.560G>A (p.Arg187Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127426115G>CCA348401106PROCc.566G>C (p.Arg189Pro)
c.121-2242G>C
c.668G>C (p.Arg223Pro)
c.509G>C (p.Arg170Pro)
n.152G>C
c.749G>C (p.Arg250Pro)
c.731G>C (p.Arg244Pro)
c.629G>C (p.Arg210Pro)
c.809G>C (p.Arg270Pro)
c.911G>C (p.Arg304Pro)
c.851G>C (p.Arg284Pro)
n.4470C>G
c.734G>C (p.Arg245Pro)
c.752G>C (p.Arg251Pro)
c.542G>C (p.Arg181Pro)
c.560G>C (p.Arg187Pro)
2g.127426115G=CA1286883408PROCc.566G= (p.Arg189=)
c.121-2242G=
c.668G= (p.Arg223=)
c.509G= (p.Arg170=)
n.152G=
c.749G= (p.Arg250=)
c.731G= (p.Arg244=)
c.629G= (p.Arg210=)
c.809G= (p.Arg270=)
c.911G= (p.Arg304=)
c.851G= (p.Arg284=)
n.4470C=
c.734G= (p.Arg245=)
c.752G= (p.Arg251=)
c.542G= (p.Arg181=)
c.560G= (p.Arg187=)
2g.127426115G>TCA348401108PROCc.566G>T (p.Arg189Leu)
c.121-2242G>T
c.668G>T (p.Arg223Leu)
c.509G>T (p.Arg170Leu)
n.152G>T
c.749G>T (p.Arg250Leu)
c.731G>T (p.Arg244Leu)
c.629G>T (p.Arg210Leu)
c.809G>T (p.Arg270Leu)
c.911G>T (p.Arg304Leu)
c.851G>T (p.Arg284Leu)
n.4470C>A
c.734G>T (p.Arg245Leu)
c.752G>T (p.Arg251Leu)
c.542G>T (p.Arg181Leu)
c.560G>T (p.Arg187Leu)
dbSNP gnomAD v3 gnomAD v4
2g.127426116delCA2586969897PROCc.567del (p.Met190TrpfsTer8)
c.121-2241del
c.669del (p.Met224TrpfsTer8)
c.510del (p.Met171TrpfsTer?)
n.153del
c.750del (p.Met251TrpfsTer8)
c.732del (p.Met245TrpfsTer8)
c.630del (p.Met211TrpfsTer8)
c.810del (p.Met271TrpfsTer8)
c.912del (p.Met305TrpfsTer8)
c.852del (p.Met285TrpfsTer8)
n.4470del
c.735del (p.Met246TrpfsTer8)
c.753del (p.Met252TrpfsTer8)
c.510del (p.Met171TrpfsTer8)
c.543del (p.Met182TrpfsTer8)
c.561del (p.Met188TrpfsTer8)
2g.127426116G>ACA428618211PROCc.567G>A (p.Arg189=)
c.121-2241G>A
c.669G>A (p.Arg223=)
c.510G>A (p.Arg170=)
n.153G>A
c.750G>A (p.Arg250=)
c.732G>A (p.Arg244=)
c.630G>A (p.Arg210=)
c.810G>A (p.Arg270=)
c.912G>A (p.Arg304=)
c.852G>A (p.Arg284=)
n.4469C>T
c.735G>A (p.Arg245=)
c.753G>A (p.Arg251=)
c.543G>A (p.Arg181=)
c.561G>A (p.Arg187=)
2g.127426116G>CCA428618209PROCc.567G>C (p.Arg189=)
c.121-2241G>C
c.669G>C (p.Arg223=)
c.510G>C (p.Arg170=)
n.153G>C
c.750G>C (p.Arg250=)
c.732G>C (p.Arg244=)
c.630G>C (p.Arg210=)
c.810G>C (p.Arg270=)
c.912G>C (p.Arg304=)
c.852G>C (p.Arg284=)
n.4469C>G
c.735G>C (p.Arg245=)
c.753G>C (p.Arg251=)
c.543G>C (p.Arg181=)
c.561G>C (p.Arg187=)
2g.127426116G>TCA428618210PROCc.567G>T (p.Arg189=)
c.121-2241G>T
c.669G>T (p.Arg223=)
c.510G>T (p.Arg170=)
n.153G>T
c.750G>T (p.Arg250=)
c.732G>T (p.Arg244=)
c.630G>T (p.Arg210=)
c.810G>T (p.Arg270=)
c.912G>T (p.Arg304=)
c.852G>T (p.Arg284=)
n.4469C>A
c.735G>T (p.Arg245=)
c.753G>T (p.Arg251=)
c.543G>T (p.Arg181=)
c.561G>T (p.Arg187=)
2g.127426117A>CCA348401112PROCc.568A>C (p.Met190Leu)
c.121-2240A>C
c.670A>C (p.Met224Leu)
c.511A>C (p.Met171Leu)
n.154A>C
c.751A>C (p.Met251Leu)
c.733A>C (p.Met245Leu)
c.631A>C (p.Met211Leu)
c.811A>C (p.Met271Leu)
c.913A>C (p.Met305Leu)
c.853A>C (p.Met285Leu)
n.4468T>G
c.736A>C (p.Met246Leu)
c.754A>C (p.Met252Leu)
c.544A>C (p.Met182Leu)
c.562A>C (p.Met188Leu)
2g.127426117A>GCA348401114PROCc.568A>G (p.Met190Val)
c.121-2240A>G
c.670A>G (p.Met224Val)
c.511A>G (p.Met171Val)
n.154A>G
c.751A>G (p.Met251Val)
c.733A>G (p.Met245Val)
c.631A>G (p.Met211Val)
c.811A>G (p.Met271Val)
c.913A>G (p.Met305Val)
c.853A>G (p.Met285Val)
n.4468T>C
c.736A>G (p.Met246Val)
c.754A>G (p.Met252Val)
c.544A>G (p.Met182Val)
c.562A>G (p.Met188Val)
gnomAD v4
2g.127426117A>TCA348401116PROCc.568A>T (p.Met190Leu)
c.121-2240A>T
c.670A>T (p.Met224Leu)
c.511A>T (p.Met171Leu)
n.154A>T
c.751A>T (p.Met251Leu)
c.733A>T (p.Met245Leu)
c.631A>T (p.Met211Leu)
c.811A>T (p.Met271Leu)
c.913A>T (p.Met305Leu)
c.853A>T (p.Met285Leu)
n.4468T>A
c.736A>T (p.Met246Leu)
c.754A>T (p.Met252Leu)
c.544A>T (p.Met182Leu)
c.562A>T (p.Met188Leu)
2g.127426118T>ACA348401122PROCc.569T>A (p.Met190Lys)
c.121-2239T>A
c.671T>A (p.Met224Lys)
c.512T>A (p.Met171Lys)
n.155T>A
c.752T>A (p.Met251Lys)
c.734T>A (p.Met245Lys)
c.632T>A (p.Met211Lys)
c.812T>A (p.Met271Lys)
c.914T>A (p.Met305Lys)
c.854T>A (p.Met285Lys)
n.4467A>T
c.737T>A (p.Met246Lys)
c.755T>A (p.Met252Lys)
c.545T>A (p.Met182Lys)
c.563T>A (p.Met188Lys)
2g.127426118T>CCA348401120PROCc.569T>C (p.Met190Thr)
c.121-2239T>C
c.671T>C (p.Met224Thr)
c.512T>C (p.Met171Thr)
n.155T>C
c.752T>C (p.Met251Thr)
c.734T>C (p.Met245Thr)
c.632T>C (p.Met211Thr)
c.812T>C (p.Met271Thr)
c.914T>C (p.Met305Thr)
c.854T>C (p.Met285Thr)
n.4467A>G
c.737T>C (p.Met246Thr)
c.755T>C (p.Met252Thr)
c.545T>C (p.Met182Thr)
c.563T>C (p.Met188Thr)
dbSNP
2g.127426118T>GCA348401119PROCc.569T>G (p.Met190Arg)
c.121-2239T>G
c.671T>G (p.Met224Arg)
c.512T>G (p.Met171Arg)
n.155T>G
c.752T>G (p.Met251Arg)
c.734T>G (p.Met245Arg)
c.632T>G (p.Met211Arg)
c.812T>G (p.Met271Arg)
c.914T>G (p.Met305Arg)
c.854T>G (p.Met285Arg)
n.4467A>C
c.737T>G (p.Met246Arg)
c.755T>G (p.Met252Arg)
c.545T>G (p.Met182Arg)
c.563T>G (p.Met188Arg)
2g.127426118T=CA1286883409PROCc.569T= (p.Met190=)
c.121-2239T=
c.671T= (p.Met224=)
c.512T= (p.Met171=)
n.155T=
c.752T= (p.Met251=)
c.734T= (p.Met245=)
c.632T= (p.Met211=)
c.812T= (p.Met271=)
c.914T= (p.Met305=)
c.854T= (p.Met285=)
n.4467A=
c.737T= (p.Met246=)
c.755T= (p.Met252=)
c.545T= (p.Met182=)
c.563T= (p.Met188=)
2g.127426119G>ACA348401126PROCc.570G>A (p.Met190Ile)
c.121-2238G>A
c.672G>A (p.Met224Ile)
c.513G>A (p.Met171Ile)
n.156G>A
c.753G>A (p.Met251Ile)
c.735G>A (p.Met245Ile)
c.633G>A (p.Met211Ile)
c.813G>A (p.Met271Ile)
c.915G>A (p.Met305Ile)
c.855G>A (p.Met285Ile)
n.4466C>T
c.738G>A (p.Met246Ile)
c.756G>A (p.Met252Ile)
c.546G>A (p.Met182Ile)
c.564G>A (p.Met188Ile)
gnomAD v4
2g.127426119G>CCA348401127PROCc.570G>C (p.Met190Ile)
c.121-2238G>C
c.672G>C (p.Met224Ile)
c.513G>C (p.Met171Ile)
n.156G>C
c.753G>C (p.Met251Ile)
c.735G>C (p.Met245Ile)
c.633G>C (p.Met211Ile)
c.813G>C (p.Met271Ile)
c.915G>C (p.Met305Ile)
c.855G>C (p.Met285Ile)
n.4466C>G
c.738G>C (p.Met246Ile)
c.756G>C (p.Met252Ile)
c.546G>C (p.Met182Ile)
c.564G>C (p.Met188Ile)
2g.127426119G>TCA348401130PROCc.570G>T (p.Met190Ile)
c.121-2238G>T
c.672G>T (p.Met224Ile)
c.513G>T (p.Met171Ile)
n.156G>T
c.753G>T (p.Met251Ile)
c.735G>T (p.Met245Ile)
c.633G>T (p.Met211Ile)
c.813G>T (p.Met271Ile)
c.915G>T (p.Met305Ile)
c.855G>T (p.Met285Ile)
n.4466C>A
c.738G>T (p.Met246Ile)
c.756G>T (p.Met252Ile)
c.546G>T (p.Met182Ile)
c.564G>T (p.Met188Ile)
2g.127426120G>ACA348401133PROCc.571G>A (p.Glu191Lys)
c.121-2237G>A
c.673G>A (p.Glu225Lys)
c.514G>A (p.Glu172Lys)
n.157G>A
c.754G>A (p.Glu252Lys)
c.736G>A (p.Glu246Lys)
c.634G>A (p.Glu212Lys)
c.814G>A (p.Glu272Lys)
c.916G>A (p.Glu306Lys)
c.856G>A (p.Glu286Lys)
n.4465C>T
c.739G>A (p.Glu247Lys)
c.757G>A (p.Glu253Lys)
c.547G>A (p.Glu183Lys)
c.565G>A (p.Glu189Lys)
gnomAD v4
2g.127426120G>CCA1859389PROCc.571G>C (p.Glu191Gln)
c.121-2237G>C
c.673G>C (p.Glu225Gln)
c.514G>C (p.Glu172Gln)
n.157G>C
c.754G>C (p.Glu252Gln)
c.736G>C (p.Glu246Gln)
c.634G>C (p.Glu212Gln)
c.814G>C (p.Glu272Gln)
c.916G>C (p.Glu306Gln)
c.856G>C (p.Glu286Gln)
n.4465C>G
c.739G>C (p.Glu247Gln)
c.757G>C (p.Glu253Gln)
c.547G>C (p.Glu183Gln)
c.565G>C (p.Glu189Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched