Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127854213G>TCA2691810437ENGc.67+76C>A (n.67+76C>A)
gnomAD v4
9g.127854221_127854256delCA2691810439ENGc.67+41_67+76del (n.67+41_67+76del)
gnomAD v4
9g.127854214G>ACA590606683ENGc.67+75C>T (n.67+75C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854214G=CA1879998512ENGc.67+75C= (n.67+75C=)
9g.127854214G>TCA2691810441ENGc.67+75C>A (n.67+75C>A)
gnomAD v4
9g.127854215A=CA1879998517ENGc.67+74T= (n.67+74T=)
9g.127854215A>CCA200326509ENGc.67+74T>G (n.67+74T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854215_127854216delinsAGCA1879998515ENGc.67+73_67+74delinsCT (n.67+73_67+74delinsCT)
9g.127854216G>ACA2691810447ENGc.67+73C>T (n.67+73C>T)
gnomAD v4
9g.127854216G>CCA2691810449ENGc.67+73C>G (n.67+73C>G)
gnomAD v4
9g.127854216G>TCA2579461527ENGc.67+73C>A (n.67+73C>A)
gnomAD v4
9g.127854217delCA200326512ENGc.67+73del (n.67+73del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854216_127854218dupCA1879998524ENGc.67+71_67+73dup (n.67+71_67+73dup)
dbSNP
9g.127854217G>TCA2691810452ENGc.67+72C>A (n.67+72C>A)
gnomAD v4
9g.127854218C>ACA2691810453ENGc.67+71G>T (n.67+71G>T)
gnomAD v4
9g.127854218C>TCA2579461528ENGc.67+71G>A (n.67+71G>A)
9g.127854219C>ACA2691810455ENGc.67+70G>T (n.67+70G>T)
gnomAD v4
9g.127854219C=CA1879998527ENGc.67+70G= (n.67+70G=)
9g.127854219C>TCA200326513ENGc.67+70G>A (n.67+70G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854219_127854220delinsCGCA1879998530ENGc.67+69_67+70delinsCG (n.67+69_67+70delinsCG)
9g.127854220G>ACA200326515ENGc.67+69C>T (n.67+69C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854220G=CA1879998531ENGc.67+69C= (n.67+69C=)
9g.127854220G>TCA2579461529ENGc.67+69C>A (n.67+69C>A)
gnomAD v4
9g.127854222delCA1129278444ENGc.67+69del (n.67+69del)
dbSNP gnomAD v3 gnomAD v4
9g.127854221G>CCA2691810456ENGc.67+68C>G (n.67+68C>G)
gnomAD v4
9g.127854221G>TCA2579461530ENGc.67+68C>A (n.67+68C>A)
9g.127854222G>ACA860211868ENGc.67+67C>T (n.67+67C>T)
dbSNP
9g.127854222G>CCA2691810458ENGc.67+67C>G (n.67+67C>G)
gnomAD v4
9g.127854222G=CA1879998534ENGc.67+67C= (n.67+67C=)
9g.127854222G>TCA2579461531ENGc.67+67C>A (n.67+67C>A)
gnomAD v4
9g.127854224A>CCA2691810461ENGc.67+65T>G (n.67+65T>G)
gnomAD v4
9g.127854224A>TCA2691810462ENGc.67+65T>A (n.67+65T>A)
gnomAD v4
9g.127854225T>ACA2691810464ENGc.67+64A>T (n.67+64A>T)
gnomAD v4
9g.127854225T>CCA2691810465ENGc.67+64A>G (n.67+64A>G)
gnomAD v4
9g.127854227C>TCA2691810467ENGc.67+62G>A (n.67+62G>A)
gnomAD v4
9g.127854228T>ACA590606687ENGc.67+61A>T (n.67+61A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854228T>CCA200326518ENGc.67+61A>G (n.67+61A>G)
dbSNP gnomAD v4
9g.127854228T=CA1879998538ENGc.67+61A= (n.67+61A=)
9g.127854230G>TCA2691810471ENGc.67+59C>A (n.67+59C>A)
gnomAD v4
9g.127854232G>TCA2691810472ENGc.67+57C>A (n.67+57C>A)
gnomAD v4
9g.127854233G>ACA2579461532ENGc.67+56C>T (n.67+56C>T)
gnomAD v4
9g.127854233G>TCA2579461533ENGc.67+56C>A (n.67+56C>A)
gnomAD v4
9g.127854234C>ACA2691810477ENGc.67+55G>T (n.67+55G>T)
gnomAD v4
9g.127854234C>TCA2691810478ENGc.67+55G>A (n.67+55G>A)
gnomAD v4
9g.127854235C>ACA2691810480ENGc.67+54G>T (n.67+54G>T)
gnomAD v4
9g.127854236T>ACA2691810483ENGc.67+53A>T (n.67+53A>T)
gnomAD v4
9g.127854236T>CCA1129278451ENGc.67+53A>G (n.67+53A>G)
dbSNP gnomAD v3 gnomAD v4
9g.127854236T>GCA2691810484ENGc.67+53A>C (n.67+53A>C)
gnomAD v4
9g.127854236T=CA1879998541ENGc.67+53A= (n.67+53A=)
9g.127854237G>ACA2691810487ENGc.67+52C>T (n.67+52C>T)
gnomAD v4
9g.127854238G>ACA1879998542ENGc.67+51C>T (n.67+51C>T)
dbSNP gnomAD v4
9g.127854238G=CA1879998543ENGc.67+51C= (n.67+51C=)
9g.127854240C>ACA2691810488ENGc.67+49G>T (n.67+49G>T)
gnomAD v4
9g.127854240C=CA1879998546ENGc.67+49G= (n.67+49G=)
9g.127854240C>TCA590606688ENGc.67+49G>A (n.67+49G>A)
dbSNP gnomAD v2
9g.127854241C>ACA2691810490ENGc.67+48G>T (n.67+48G>T)
gnomAD v4
9g.127854241C=CA1879998549ENGc.67+48G= (n.67+48G=)
9g.127854241C>GCA860211872ENGc.67+48G>C (n.67+48G>C)
dbSNP gnomAD v3 gnomAD v4
9g.127854241C>TCA5253248ENGc.67+48G>A (n.67+48G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854242G>ACA5253249ENGc.67+47C>T (n.67+47C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854242G=CA1879998552ENGc.67+47C= (n.67+47C=)
9g.127854243T>ACA590606699ENGc.67+46A>T (n.67+46A>T)
dbSNP gnomAD v2
9g.127854243T=CA1879998556ENGc.67+46A= (n.67+46A=)
9g.127854244G>ACA2691810495ENGc.67+45C>T (n.67+45C>T)
gnomAD v4
9g.127854246_127854254delCA2691810494ENGc.67+37_67+45del (n.67+37_67+45del)
gnomAD v4
9g.127854245C>TCA2691810496ENGc.67+44G>A (n.67+44G>A)
gnomAD v4
9g.127854246A=CA1879998558ENGc.67+43T= (n.67+43T=)
9g.127854246A>CCA1879998561ENGc.67+43T>G (n.67+43T>G)
dbSNP
9g.127854247C=CA1879998564ENGc.67+42G= (n.67+42G=)
9g.127854247C>TCA860211877ENGc.67+42G>A (n.67+42G>A)
dbSNP gnomAD v3 gnomAD v4
9g.127854248C>ACA2691810498ENGc.67+41G>T (n.67+41G>T)
gnomAD v4
9g.127854248C=CA1879998565ENGc.67+41G= (n.67+41G=)
9g.127854248C>TCA5253250ENGc.67+41G>A (n.67+41G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127854249G>ACA200326557ENGc.67+40C>T (n.67+40C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854249G>CCA5253251ENGc.67+40C>G (n.67+40C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127854249G=CA1879998568ENGc.67+40C= (n.67+40C=)
9g.127854249G>TCA2579461534ENGc.67+40C>A (n.67+40C>A)
gnomAD v4
9g.127854250G>ACA590606705ENGc.67+39C>T (n.67+39C>T)
dbSNP gnomAD v2 gnomAD v4
9g.127854250G=CA1879998572ENGc.67+39C= (n.67+39C=)
9g.127854250G>TCA2691810507ENGc.67+39C>A (n.67+39C>A)
gnomAD v4
9g.127854251A>GCA2691810509ENGc.67+38T>C (n.67+38T>C)
gnomAD v4
9g.127854252G>ACA2691810512ENGc.67+37C>T (n.67+37C>T)
gnomAD v4
9g.127854252G>TCA2579461535ENGc.67+37C>A (n.67+37C>A)
gnomAD v4
9g.127854253G>ACA5253252ENGc.67+36C>T (n.67+36C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854253G>CCA860211892ENGc.67+36C>G (n.67+36C>G)
dbSNP gnomAD v3 gnomAD v4
9g.127854253G=CA1879998575ENGc.67+36C= (n.67+36C=)
9g.127854253G>TCA2691810515ENGc.67+36C>A (n.67+36C>A)
gnomAD v4
9g.127854254C>ACA2691810518ENGc.67+35G>T (n.67+35G>T)
gnomAD v4
9g.127854254C>GCA2691810519ENGc.67+35G>C (n.67+35G>C)
gnomAD v4
9g.127854254C>TCA2691810521ENGc.67+35G>A (n.67+35G>A)
gnomAD v4
9g.127854255C=CA1879998578ENGc.67+34G= (n.67+34G=)
9g.127854255C>GCA1879998579ENGc.67+34G>C (n.67+34G>C)
dbSNP
9g.127854255C>TCA5253253ENGc.67+34G>A (n.67+34G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854256G>ACA5253254ENGc.67+33C>T (n.67+33C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854256G=CA1879998584ENGc.67+33C= (n.67+33C=)
9g.127854256G>TCA2691810527ENGc.67+33C>A (n.67+33C>A)
gnomAD v4
9g.127854257A>GCA2785997429ENGc.67+32T>C (n.67+32T>C)
9g.127854257A>TCA2691810529ENGc.67+32T>A (n.67+32T>A)
gnomAD v4
9g.127854258G>ACA2691810531ENGc.67+31C>T (n.67+31C>T)
gnomAD v4
9g.127854258G>CCA2691810532ENGc.67+31C>G (n.67+31C>G)
gnomAD v4
9g.127854258G>TCA2691810533ENGc.67+31C>A (n.67+31C>A)
gnomAD v4
9g.127854259T>CCA5253255ENGc.67+30A>G (n.67+30A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854259T=CA1879998589ENGc.67+30A= (n.67+30A=)
9g.127854260C>ACA2691810535ENGc.67+29G>T (n.67+29G>T)
gnomAD v4
9g.127854260C=CA1879998593ENGc.67+29G= (n.67+29G=)
9g.127854260C>GCA860211900ENGc.67+29G>C (n.67+29G>C)
dbSNP gnomAD v3 gnomAD v4
9g.127854260C>TCA5253256ENGc.67+29G>A (n.67+29G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127854261T>ACA2691810538ENGc.67+28A>T (n.67+28A>T)
gnomAD v4
9g.127854261T>CCA2691810539ENGc.67+28A>G (n.67+28A>G)
gnomAD v4
9g.127854262C>ACA2691810543ENGc.67+27G>T (n.67+27G>T)
gnomAD v4
9g.127854262C=CA1879998597ENGc.67+27G= (n.67+27G=)
9g.127854262C>TCA590606711ENGc.67+27G>A (n.67+27G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854265delCA2691810541ENGc.67+27del (n.67+27del)
gnomAD v4
9g.127854263C>ACA590606714ENGc.67+26G>T (n.67+26G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854263C=CA1879998600ENGc.67+26G= (n.67+26G=)
9g.127854263C>GCA5253257ENGc.67+26G>C (n.67+26G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127854263C>TCA590606718ENGc.67+26G>A (n.67+26G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854264C>ACA2691810551ENGc.67+25G>T (n.67+25G>T)
gnomAD v4
9g.127854264C=CA1879998601ENGc.67+25G= (n.67+25G=)
9g.127854264C>GCA1879998603ENGc.67+25G>C (n.67+25G>C)
dbSNP
9g.127854264C>TCA2691810552ENGc.67+25G>A (n.67+25G>A)
gnomAD v4
9g.127854265C>ACA2691810553ENGc.67+24G>T (n.67+24G>T)
gnomAD v4
9g.127854265C>TCA2691810554ENGc.67+24G>A (n.67+24G>A)
gnomAD v4
9g.127854266A=CA1879998605ENGc.67+23T= (n.67+23T=)
9g.127854266A>CCA1879998606ENGc.67+23T>G (n.67+23T>G)
dbSNP
9g.127854267C>ACA2691810555ENGc.67+22G>T (n.67+22G>T)
gnomAD v4
9g.127854267C>TCA2691810556ENGc.67+22G>A (n.67+22G>A)
gnomAD v4
9g.127854268C>ACA2691810557ENGc.67+21G>T (n.67+21G>T)
gnomAD v4
9g.127854268C>TCA2691810558ENGc.67+21G>A (n.67+21G>A)
gnomAD v4
9g.127854269C>ACA5253258ENGc.67+20G>T (n.67+20G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854269C=CA1879998617ENGc.67+20G= (n.67+20G=)
9g.127854269C>GCA2691810559ENGc.67+20G>C (n.67+20G>C)
gnomAD v4
9g.127854269C>TCA2691810560ENGc.67+20G>A (n.67+20G>A)
gnomAD v4
9g.127854270T>ACA2691810561ENGc.67+19A>T (n.67+19A>T)
gnomAD v4
9g.127854270T>CCA2691810562ENGc.67+19A>G (n.67+19A>G)
gnomAD v4
9g.127854274_127854295delCA2739264799ENGc.65_67+19del
ClinVar
9g.127854271G>ACA2691810564ENGc.67+18C>T (n.67+18C>T)
gnomAD v4
9g.127854271G>TCA2691810563ENGc.67+18C>A (n.67+18C>A)
gnomAD v4
9g.127854272G>TCA2691810565ENGc.67+17C>A (n.67+17C>A)
gnomAD v4
9g.127854273G>ACA2579461536ENGc.67+16C>T (n.67+16C>T)
gnomAD v4
9g.127854273G>TCA2691810566ENGc.67+16C>A (n.67+16C>A)
gnomAD v4
9g.127854274T>ACA2691810567ENGc.67+15A>T (n.67+15A>T)
gnomAD v4
9g.127854274T>CCA590606721ENGc.67+15A>G (n.67+15A>G)
dbSNP gnomAD v2 gnomAD v4
9g.127854274T=CA1879998620ENGc.67+15A= (n.67+15A=)
9g.127854275C>ACA2691810568ENGc.67+14G>T (n.67+14G>T)
gnomAD v4
9g.127854277_127854285delCA2573053097ENGc.67+6_67+14del (n.67+6_67+14del)
ClinVar dbSNP
9g.127854276C>ACA2691810569ENGc.67+13G>T (n.67+13G>T)
gnomAD v4
9g.127854276C=CA1879998625ENGc.67+13G= (n.67+13G=)
9g.127854276C>GCA860211914ENGc.67+13G>C (n.67+13G>C)
dbSNP
9g.127854276C>TCA2691810570ENGc.67+13G>A (n.67+13G>A)
gnomAD v4
9g.127854277C>ACA5253259ENGc.67+12G>T (n.67+12G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127854277C=CA1879998628ENGc.67+12G= (n.67+12G=)
9g.127854277C>TCA590606723ENGc.67+12G>A (n.67+12G>A)
dbSNP gnomAD v2 gnomAD v4
9g.127854278T>CCA2691810571ENGc.67+11A>G (n.67+11A>G)
gnomAD v4
9g.127854278T>GCA2691810572ENGc.67+11A>C (n.67+11A>C)
gnomAD v4
9g.127854279G>ACA590606724ENGc.67+10C>T (n.67+10C>T)
dbSNP gnomAD v2 gnomAD v4
9g.127854279G>CCA2691810573ENGc.67+10C>G (n.67+10C>G)
gnomAD v4
9g.127854279G=CA1879998631ENGc.67+10C= (n.67+10C=)
9g.127854279G>TCA2579461537ENGc.67+10C>A (n.67+10C>A)
gnomAD v4
9g.127854282C>ACA2691810574ENGc.67+7G>T (n.67+7G>T)
gnomAD v4
9g.127854282C=CA1879998634ENGc.67+7G= (n.67+7G=)
9g.127854282C>TCA590606725ENGc.67+7G>A (n.67+7G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854283A>GCA2691810575ENGc.67+6T>C (n.67+6T>C)
gnomAD v4
9g.127854283A>TCA2691810576ENGc.67+6T>A (n.67+6T>A)
gnomAD v4
9g.127854284C>ACA2691810577ENGc.67+5G>T (n.67+5G>T)
ClinVar gnomAD v4
9g.127854284C=CA1879998638ENGc.67+5G= (n.67+5G=)
9g.127854284C>TCA238556ENGc.67+5G>A (n.67+5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127854285C=CA1879998642ENGc.67+4G= (n.67+4G=)
9g.127854285C>TCA860211935ENGc.67+4G>A (n.67+4G>A)
ClinVar dbSNP gnomAD v4
9g.127854286T>ACA2691810578ENGc.67+3A>T (n.67+3A>T)
gnomAD v4
9g.127854286T>CCA2691810579ENGc.67+3A>G (n.67+3A>G)
gnomAD v4
9g.127854287A>CCA374989485ENGc.67+2T>G (n.67+2T>G)
9g.127854287A>GCA374989483ENGc.67+2T>C (n.67+2T>C)
ClinVar dbSNP gnomAD v4
9g.127854287A>TCA374989481ENGc.67+2T>A (n.67+2T>A)
9g.127854288C>ACA374989487ENGc.67+1G>T (n.67+1G>T)
gnomAD v4
9g.127854288C=CA1879998651ENGc.67+1G= (n.67+1G=)
9g.127854288C>GCA374989489ENGc.67+1G>C (n.67+1G>C)
9g.127854288C>TCA374989490ENGc.67+1G>A (n.67+1G>A)
ClinVar dbSNP gnomAD v4
9g.127854288_127854289delinsCTCA1879998650ENGc.67_67+1delinsAG
9g.127854289T>ACA374989492ENGc.67A>T (p.Ser23Cys)
gnomAD v4
9g.127854289T>CCA374989494ENGc.67A>G (p.Ser23Gly)
gnomAD v4
9g.127854289T>GCA374989496ENGc.67A>C (p.Ser23Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127854289T=CA1879998661ENGc.67A= (p.Ser23=)
9g.127854290delCA10582617ENGc.67del (p.Ser23ValfsTer20)
ClinVar dbSNP
9g.127854290T>ACA467235197ENGc.66A>T (p.Thr22=)
gnomAD v4
9g.127854290T>CCA467235198ENGc.66A>G (p.Thr22=)
9g.127854290T>GCA467235199ENGc.66A>C (p.Thr22=)
9g.127854292_127854293delCA2739291271ENGc.65_66del (p.Thr22LysfsTer9)
9g.127854291G>ACA374989497ENGc.65C>T (p.Thr22Ile)
gnomAD v4
9g.127854291G>CCA374989499ENGc.65C>G (p.Thr22Arg)
9g.127854291G>TCA374989501ENGc.65C>A (p.Thr22Lys)
gnomAD v4
9g.127854292T>ACA374989503ENGc.64A>T (p.Thr22Ser)
gnomAD v4
9g.127854292T>CCA5253260ENGc.64A>G (p.Thr22Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854292T>GCA374989505ENGc.64A>C (p.Thr22Pro)
9g.127854292T=CA1879998666ENGc.64A= (p.Thr22=)
9g.127854293G>ACA467235200ENGc.63C>T (p.Pro21=)
gnomAD v4
9g.127854293G>CCA467235201ENGc.63C>G (p.Pro21=)
gnomAD v4
9g.127854293G>TCA467235202ENGc.63C>A (p.Pro21=)
gnomAD v4
9g.127854296dupCA1139661232ENGc.63dup (p.Thr22HisfsTer10)
ClinVar dbSNP
9g.127854296delCA2580079580ENGc.63del (p.Thr22GlnfsTer21)
ClinVar
9g.127854294G>ACA374989509ENGc.62C>T (p.Pro21Leu)
9g.127854294G>CCA5253261ENGc.62C>G (p.Pro21Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127854294G=CA1879998674ENGc.62C= (p.Pro21=)
9g.127854294G>TCA374989507ENGc.62C>A (p.Pro21His)
gnomAD v4
9g.127854295G>ACA374989512ENGc.61C>T (p.Pro21Ser)
gnomAD v4
9g.127854295G>CCA374989513ENGc.61C>G (p.Pro21Ala)
9g.127854295G>TCA374989515ENGc.61C>A (p.Pro21Thr)
gnomAD v4
9g.127854296G>ACA467235203ENGc.60C>T (p.Ser20=)
gnomAD v4
9g.127854296G>CCA374989517ENGc.60C>G (p.Ser20Arg)
gnomAD v4
9g.127854296G>TCA374989519ENGc.60C>A (p.Ser20Arg)
gnomAD v4
9g.127854297C>ACA374989521ENGc.59G>T (p.Ser20Ile)
gnomAD v4
9g.127854297C>GCA374989522ENGc.59G>C (p.Ser20Thr)
9g.127854297C>TCA374989523ENGc.59G>A (p.Ser20Asn)
9g.127854298T>ACA374989525ENGc.58A>T (p.Ser20Cys)
gnomAD v4
9g.127854298T>CCA374989527ENGc.58A>G (p.Ser20Gly)
gnomAD v4
9g.127854298T>GCA374989529ENGc.58A>C (p.Ser20Arg)
gnomAD v4
9g.127854299G>ACA467235204ENGc.57C>T (p.Leu19=)
gnomAD v4
9g.127854299G>CCA467235205ENGc.57C>G (p.Leu19=)
9g.127854299G>TCA467235206ENGc.57C>A (p.Leu19=)
gnomAD v4
9g.127854300A>CCA374989533ENGc.56T>G (p.Leu19Arg)
9g.127854300A>GCA374989531ENGc.56T>C (p.Leu19Pro)
9g.127854300A>TCA374989530ENGc.56T>A (p.Leu19His)
gnomAD v4
9g.127854301G>ACA374989536ENGc.55C>T (p.Leu19Phe)
dbSNP gnomAD v2 gnomAD v4
9g.127854301G>CCA374989537ENGc.55C>G (p.Leu19Val)
9g.127854301G=CA1879998678ENGc.55C= (p.Leu19=)
9g.127854301G>TCA374989539ENGc.55C>A (p.Leu19Ile)
gnomAD v4
9g.127854302G>ACA200326630ENGc.54C>T (p.Ser18=)
dbSNP gnomAD v4
9g.127854302G>CCA374989540ENGc.54C>G (p.Ser18Arg)
9g.127854302G=CA1879998685ENGc.54C= (p.Ser18=)
9g.127854302G>TCA374989542ENGc.54C>A (p.Ser18Arg)
gnomAD v4
9g.127854303C>ACA374989543ENGc.53G>T (p.Ser18Ile)
gnomAD v4
9g.127854303C>GCA374989545ENGc.53G>C (p.Ser18Thr)
9g.127854303C>TCA374989547ENGc.53G>A (p.Ser18Asn)
gnomAD v4
9g.127854304T>ACA374989549ENGc.52A>T (p.Ser18Cys)
9g.127854304T>CCA374989550ENGc.52A>G (p.Ser18Gly)
gnomAD v4
9g.127854304T>GCA374989551ENGc.52A>C (p.Ser18Arg)
9g.127854304_127854315delinsTGCAGCTGGCCACA1879998689ENGc.41_52delinsTGGCCAGCTGCA (p.Leu14=)
9g.127854305G>ACA467235207ENGc.51C>T (p.Cys17=)
gnomAD v4
9g.127854305G>CCA374989553ENGc.51C>G (p.Cys17Trp)
9g.127854305G>TCA374989555ENGc.51C>A (p.Cys17Ter)
gnomAD v4
9g.127854310_127854320dupCA2695211398ENGc.41_51dup (p.Ser18TrpfsTer29)
ClinVar
9g.127854310_127854320delCA913189495ENGc.41_51del (p.Leu14GlnfsTer14)
ClinVar dbSNP
9g.127854306C>ACA374989558ENGc.50G>T (p.Cys17Phe)
gnomAD v4
9g.127854306C>GCA374989559ENGc.50G>C (p.Cys17Ser)
9g.127854306C>TCA374989557ENGc.50G>A (p.Cys17Tyr)
gnomAD v4
9g.127854307A>CCA374989563ENGc.49T>G (p.Cys17Gly)
9g.127854307A>GCA374989562ENGc.49T>C (p.Cys17Arg)
9g.127854307A>TCA374989565ENGc.49T>A (p.Cys17Ser)
9g.127854308G>ACA467235208ENGc.48C>T (p.Ser16=)
gnomAD v4
9g.127854308G>CCA5253262ENGc.48C>G (p.Ser16Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854308G=CA1879998697ENGc.48C= (p.Ser16=)
9g.127854308G>TCA374989567ENGc.48C>A (p.Ser16Arg)
gnomAD v4
9g.127854309C>ACA374989569ENGc.47G>T (p.Ser16Ile)
gnomAD v4
9g.127854309C>GCA374989571ENGc.47G>C (p.Ser16Thr)
gnomAD v4
9g.127854309C>TCA374989572ENGc.47G>A (p.Ser16Asn)
gnomAD v3 gnomAD v4
9g.127854310T>ACA374989573ENGc.46A>T (p.Ser16Cys)
9g.127854310T>CCA374989575ENGc.46A>G (p.Ser16Gly)
9g.127854310T>GCA374989576ENGc.46A>C (p.Ser16Arg)
gnomAD v4
9g.127854311G>ACA467235209ENGc.45C>T (p.Ala15=)
ClinVar gnomAD v4
9g.127854311G>CCA5253263ENGc.45C>G (p.Ala15=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127854311G=CA1879998702ENGc.45C= (p.Ala15=)
9g.127854311G>TCA467235210ENGc.45C>A (p.Ala15=)
gnomAD v4

Number of alleles fetched