Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111400919A>GCA2694473318DCXc.705+71T>C (n.705+71T>C)
c.948+71T>C (n.948+71T>C)
c.923+71T>C
n.945+71T>C
gnomAD v4
Xg.111400920T>CCA334420242DCXc.705+70A>G (n.705+70A>G)
c.948+70A>G (n.948+70A>G)
c.923+70A>G
n.945+70A>G
dbSNP gnomAD v4
Xg.111400920T=CA2451697167DCXc.705+70A= (n.705+70A=)
c.948+70A= (n.948+70A=)
c.923+70A=
n.945+70A=
Xg.111400925T>CCA334420243DCXc.705+65A>G (n.705+65A>G)
c.948+65A>G (n.948+65A>G)
c.923+65A>G
n.945+65A>G
dbSNP gnomAD v4
Xg.111400925T=CA2451697168DCXc.705+65A= (n.705+65A=)
c.948+65A= (n.948+65A=)
c.923+65A=
n.945+65A=
Xg.111400926A>TCA2694473319DCXc.705+64T>A (n.705+64T>A)
c.948+64T>A (n.948+64T>A)
c.923+64T>A
n.945+64T>A
gnomAD v4
Xg.111400927G>TCA2694473320DCXc.705+63C>A (n.705+63C>A)
c.948+63C>A (n.948+63C>A)
c.923+63C>A
n.945+63C>A
gnomAD v4
Xg.111400928G>ACA2451697170DCXc.705+62C>T (n.705+62C>T)
c.948+62C>T (n.948+62C>T)
c.923+62C>T
n.945+62C>T
dbSNP gnomAD v4
Xg.111400928G>CCA334420244DCXc.705+62C>G (n.705+62C>G)
c.948+62C>G (n.948+62C>G)
c.923+62C>G
n.945+62C>G
dbSNP gnomAD v3 gnomAD v4
Xg.111400928G=CA2451697169DCXc.705+62C= (n.705+62C=)
c.948+62C= (n.948+62C=)
c.923+62C=
n.945+62C=
Xg.111400928G>TCA2579680615DCXc.705+62C>A (n.705+62C>A)
c.948+62C>A (n.948+62C>A)
c.923+62C>A
n.945+62C>A
gnomAD v4
Xg.111400930A>CCA2694473322DCXc.705+60T>G (n.705+60T>G)
c.948+60T>G (n.948+60T>G)
c.923+60T>G
n.945+60T>G
gnomAD v4
Xg.111400930A>GCA2694473321DCXc.705+60T>C (n.705+60T>C)
c.948+60T>C (n.948+60T>C)
c.923+60T>C
n.945+60T>C
gnomAD v4
Xg.111400930A>TCA2694473323DCXc.705+60T>A (n.705+60T>A)
c.948+60T>A (n.948+60T>A)
c.923+60T>A
n.945+60T>A
gnomAD v4
Xg.111400931T>CCA334420245DCXc.705+59A>G (n.705+59A>G)
c.948+59A>G (n.948+59A>G)
c.923+59A>G
n.945+59A>G
dbSNP gnomAD v3 gnomAD v4
Xg.111400931T>GCA2694473324DCXc.705+59A>C (n.705+59A>C)
c.948+59A>C (n.948+59A>C)
c.923+59A>C
n.945+59A>C
gnomAD v4
Xg.111400931T=CA2451697171DCXc.705+59A= (n.705+59A=)
c.948+59A= (n.948+59A=)
c.923+59A=
n.945+59A=
Xg.111400934C>ACA2822982872DCXc.705+56G>T (n.705+56G>T)
c.948+56G>T (n.948+56G>T)
c.923+56G>T
n.945+56G>T
Xg.111400934C>GCA2822982874DCXc.705+56G>C (n.705+56G>C)
c.948+56G>C (n.948+56G>C)
c.923+56G>C
n.945+56G>C
Xg.111400934C>TCA2579680616DCXc.705+56G>A (n.705+56G>A)
c.948+56G>A (n.948+56G>A)
c.923+56G>A
n.945+56G>A
gnomAD v4
Xg.111400935A>GCA2694473325DCXc.705+55T>C (n.705+55T>C)
c.948+55T>C (n.948+55T>C)
c.923+55T>C
n.945+55T>C
gnomAD v4
Xg.111400936T>CCA2694473326DCXc.705+54A>G (n.705+54A>G)
c.948+54A>G (n.948+54A>G)
c.923+54A>G
n.945+54A>G
gnomAD v4
Xg.111400937G>TCA2694473327DCXc.705+53C>A (n.705+53C>A)
c.948+53C>A (n.948+53C>A)
c.923+53C>A
n.945+53C>A
gnomAD v4
Xg.111400941A=CA2451697172DCXc.705+49T= (n.705+49T=)
c.948+49T= (n.948+49T=)
c.923+49T=
n.945+49T=
Xg.111400941A>GCA2451697173DCXc.705+49T>C (n.705+49T>C)
c.948+49T>C (n.948+49T>C)
c.923+49T>C
n.945+49T>C
dbSNP
Xg.111400942T>CCA10493304DCXc.705+48A>G (n.705+48A>G)
c.948+48A>G (n.948+48A>G)
c.923+48A>G
n.945+48A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111400942T=CA2451697174DCXc.705+48A= (n.705+48A=)
c.948+48A= (n.948+48A=)
c.923+48A=
n.945+48A=
Xg.111400943C>ACA10493305DCXc.705+47G>T (n.705+47G>T)
c.948+47G>T (n.948+47G>T)
c.923+47G>T
n.945+47G>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111400943C=CA2451697175DCXc.705+47G= (n.705+47G=)
c.948+47G= (n.948+47G=)
c.923+47G=
n.945+47G=
Xg.111400945A=CA2451697176DCXc.705+45T= (n.705+45T=)
c.948+45T= (n.948+45T=)
c.923+45T=
n.945+45T=
Xg.111400945A>TCA10493306DCXc.705+45T>A (n.705+45T>A)
c.948+45T>A (n.948+45T>A)
c.923+45T>A
n.945+45T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111400947G>TCA2694473328DCXc.705+43C>A (n.705+43C>A)
c.948+43C>A (n.948+43C>A)
c.923+43C>A
n.945+43C>A
gnomAD v4
Xg.111400950T>CCA10493307DCXc.705+40A>G (n.705+40A>G)
c.948+40A>G (n.948+40A>G)
c.923+40A>G
n.945+40A>G
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111400950T=CA2451697177DCXc.705+40A= (n.705+40A=)
c.948+40A= (n.948+40A=)
c.923+40A=
n.945+40A=
Xg.111400951T>ACA2694473329DCXc.705+39A>T (n.705+39A>T)
c.948+39A>T (n.948+39A>T)
c.923+39A>T
n.945+39A>T
gnomAD v4
Xg.111400952T>CCA2694473330DCXc.705+38A>G (n.705+38A>G)
c.948+38A>G (n.948+38A>G)
c.923+38A>G
n.945+38A>G
gnomAD v4
Xg.111400953A>TCA2579680617DCXc.705+37T>A (n.705+37T>A)
c.948+37T>A (n.948+37T>A)
c.923+37T>A
n.945+37T>A
Xg.111400954G=CA2451697178DCXc.705+36C= (n.705+36C=)
c.948+36C= (n.948+36C=)
c.923+36C=
n.945+36C=
Xg.111400955A>TCA2579680618DCXc.705+35T>A (n.705+35T>A)
c.948+35T>A (n.948+35T>A)
c.923+35T>A
n.945+35T>A
Xg.111400960dupCA870060531DCXc.705+35dup (n.705+35dup)
c.948+35dup (n.948+35dup)
c.923+35dup
n.945+35dup
dbSNP gnomAD v4
Xg.111400961C>ACA2694473331DCXc.705+29G>T (n.705+29G>T)
c.948+29G>T (n.948+29G>T)
c.923+29G>T
n.945+29G>T
gnomAD v4
Xg.111400961C=CA2451697179DCXc.705+29G= (n.705+29G=)
c.948+29G= (n.948+29G=)
c.923+29G=
n.945+29G=
Xg.111400961C>TCA10493308DCXc.705+29G>A (n.705+29G>A)
c.948+29G>A (n.948+29G>A)
c.923+29G>A
n.945+29G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111400962G>ACA10493309DCXc.705+28C>T (n.705+28C>T)
c.948+28C>T (n.948+28C>T)
c.923+28C>T
n.945+28C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111400962G=CA2451697180DCXc.705+28C= (n.705+28C=)
c.948+28C= (n.948+28C=)
c.923+28C=
n.945+28C=
Xg.111400962G>TCA10493310DCXc.705+28C>A (n.705+28C>A)
c.948+28C>A (n.948+28C>A)
c.923+28C>A
n.945+28C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111400964G>ACA644064743DCXc.705+26C>T (n.705+26C>T)
c.948+26C>T (n.948+26C>T)
c.923+26C>T
n.945+26C>T
dbSNP gnomAD v2 gnomAD v4
Xg.111400964G=CA2451697181DCXc.705+26C= (n.705+26C=)
c.948+26C= (n.948+26C=)
c.923+26C=
n.945+26C=
Xg.111400964G>TCA2694473332DCXc.705+26C>A (n.705+26C>A)
c.948+26C>A (n.948+26C>A)
c.923+26C>A
n.945+26C>A
gnomAD v4
Xg.111400965A=CA2451697182DCXc.705+25T= (n.705+25T=)
c.948+25T= (n.948+25T=)
c.923+25T=
n.945+25T=
Xg.111400965A>GCA2546443164DCXc.705+25T>C (n.705+25T>C)
c.948+25T>C (n.948+25T>C)
c.923+25T>C
n.945+25T>C
Xg.111400965A>TCA10493311DCXc.705+25T>A (n.705+25T>A)
c.948+25T>A (n.948+25T>A)
c.923+25T>A
n.945+25T>A
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111400968delCA2694473333DCXc.705+25del (n.705+25del)
c.948+25del (n.948+25del)
c.923+25del
n.945+25del
gnomAD v4
Xg.111400968A>GCA2537715302DCXc.705+22T>C (n.705+22T>C)
c.948+22T>C (n.948+22T>C)
c.923+22T>C
n.945+22T>C
Xg.111400968A>TCA2579680619DCXc.705+22T>A (n.705+22T>A)
c.948+22T>A (n.948+22T>A)
c.923+22T>A
n.945+22T>A
Xg.111400969G>CCA870060571DCXc.705+21C>G (n.705+21C>G)
c.948+21C>G (n.948+21C>G)
c.923+21C>G
n.945+21C>G
dbSNP
Xg.111400969G=CA2451697183DCXc.705+21C= (n.705+21C=)
c.948+21C= (n.948+21C=)
c.923+21C=
n.945+21C=
Xg.111400971A=CA2451697184DCXc.705+19T= (n.705+19T=)
c.948+19T= (n.948+19T=)
c.923+19T=
n.945+19T=
Xg.111400971A>TCA10493312DCXc.705+19T>A (n.705+19T>A)
c.948+19T>A (n.948+19T>A)
c.923+19T>A
n.945+19T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111400972C=CA2451697185DCXc.705+18G= (n.705+18G=)
c.948+18G= (n.948+18G=)
c.923+18G=
n.945+18G=
Xg.111400972C>GCA644064744DCXc.705+18G>C (n.705+18G>C)
c.948+18G>C (n.948+18G>C)
c.923+18G>C
n.945+18G>C
dbSNP gnomAD v2 gnomAD v4
Xg.111400973T>CCA644064745DCXc.705+17A>G (n.705+17A>G)
c.948+17A>G (n.948+17A>G)
c.923+17A>G
n.945+17A>G
dbSNP gnomAD v2 gnomAD v4
Xg.111400973T>GCA10493313DCXc.705+17A>C (n.705+17A>C)
c.948+17A>C (n.948+17A>C)
c.923+17A>C
n.945+17A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111400973T=CA2451697186DCXc.705+17A= (n.705+17A=)
c.948+17A= (n.948+17A=)
c.923+17A=
n.945+17A=
Xg.111400975T>CCA870060589DCXc.705+15A>G (n.705+15A>G)
c.948+15A>G (n.948+15A>G)
c.923+15A>G
n.945+15A>G
dbSNP gnomAD v4
Xg.111400975T=CA2451697188DCXc.705+15A= (n.705+15A=)
c.948+15A= (n.948+15A=)
c.923+15A=
n.945+15A=
Xg.111400975_111400976delinsTGCA2451697187DCXc.705+14_705+15delinsCA (n.705+14_705+15delinsCA)
c.948+14_948+15delinsCA (n.948+14_948+15delinsCA)
c.923+14_923+15delinsCA
n.945+14_945+15delinsCA
Xg.111400976delCA644064746DCXc.705+14del (n.705+14del)
c.948+14del (n.948+14del)
c.923+14del
n.945+14del
dbSNP gnomAD v2 gnomAD v4
Xg.111400976G>ACA2694473334DCXc.705+14C>T (n.705+14C>T)
c.948+14C>T (n.948+14C>T)
c.923+14C>T
n.945+14C>T
gnomAD v4
Xg.111400976G>TCA2822982888DCXc.705+14C>A (n.705+14C>A)
c.948+14C>A (n.948+14C>A)
c.923+14C>A
n.945+14C>A
Xg.111400977A>TCA2822982889DCXc.705+13T>A (n.705+13T>A)
c.948+13T>A (n.948+13T>A)
c.923+13T>A
n.945+13T>A
Xg.111400978A>CCA2822982890DCXc.705+12T>G (n.705+12T>G)
c.948+12T>G (n.948+12T>G)
c.923+12T>G
n.945+12T>G
Xg.111400982G>TCA2694473335DCXc.705+8C>A (n.705+8C>A)
c.948+8C>A (n.948+8C>A)
c.923+8C>A
n.945+8C>A
gnomAD v4
Xg.111400983T>CCA644064747DCXc.705+7A>G (n.705+7A>G)
c.948+7A>G (n.948+7A>G)
c.923+7A>G
n.945+7A>G
dbSNP gnomAD v2 gnomAD v4
Xg.111400983T=CA2451697189DCXc.705+7A= (n.705+7A=)
c.948+7A= (n.948+7A=)
c.923+7A=
n.945+7A=
Xg.111400985C>TCA2561695729DCXc.705+5G>A (n.705+5G>A)
c.948+5G>A (n.948+5G>A)
c.923+5G>A
n.945+5G>A
gnomAD v4
Xg.111400986C=CA2451697190DCXc.705+4G= (n.705+4G=)
c.948+4G= (n.948+4G=)
c.923+4G=
n.945+4G=
Xg.111400986C>TCA644064748DCXc.705+4G>A (n.705+4G>A)
c.948+4G>A (n.948+4G>A)
c.923+4G>A
n.945+4G>A
dbSNP gnomAD v2 gnomAD v4
Xg.111400987T>ACA2694473336DCXc.705+3A>T (n.705+3A>T)
c.948+3A>T (n.948+3A>T)
c.923+3A>T
n.945+3A>T
gnomAD v4
Xg.111400987T>CCA2739004169DCXc.705+3A>G (n.705+3A>G)
c.948+3A>G (n.948+3A>G)
c.923+3A>G
n.945+3A>G
dbSNP
Xg.111400988A>CCA414245788DCXc.705+2T>G (n.705+2T>G)
c.948+2T>G (n.948+2T>G)
c.923+2T>G
n.945+2T>G
Xg.111400988A>GCA414245789DCXc.705+2T>C (n.705+2T>C)
c.948+2T>C (n.948+2T>C)
c.923+2T>C
n.945+2T>C
Xg.111400988A>TCA414245787DCXc.705+2T>A (n.705+2T>A)
c.948+2T>A (n.948+2T>A)
c.923+2T>A
n.945+2T>A
Xg.111400988_111400989delinsACCA2451697191DCXc.705+1_705+2delinsGT (n.705+1_705+2delinsGT)
c.948+1_948+2delinsGT (n.948+1_948+2delinsGT)
c.923+1_923+2delinsGT
n.945+1_945+2delinsGT
Xg.111400989C>ACA414245792DCXc.705+1G>T (n.705+1G>T)
c.948+1G>T (n.948+1G>T)
c.923+1G>T
n.945+1G>T
Xg.111400989C>GCA414245790DCXc.705+1G>C (n.705+1G>C)
c.948+1G>C (n.948+1G>C)
c.923+1G>C
n.945+1G>C
Xg.111400989C>TCA414245791DCXc.705+1G>A (n.705+1G>A)
c.948+1G>A (n.948+1G>A)
c.923+1G>A
n.945+1G>A
ClinVar dbSNP
Xg.111400990delCA645373313DCXc.705+1del
c.948+1del
c.923+1del
n.945+1del
ClinVar dbSNP
Xg.111400990C>ACA414245793DCXc.705G>T (p.Gln235His)
c.948G>T (p.Gln316His)
c.923G>T
n.945G>T
Xg.111400990C>GCA414245794DCXc.705G>C (p.Gln235His)
c.948G>C (p.Gln316His)
c.923G>C
n.945G>C
Xg.111400990C>TCA518113915DCXc.705G>A (p.Gln235=)
c.948G>A (p.Gln316=)
c.923G>A
n.945G>A
Xg.111400991T>ACA414245795DCXc.704A>T (p.Gln235Leu)
c.947A>T (p.Gln316Leu)
c.922A>T
n.944A>T
Xg.111400991T>CCA414245796DCXc.704A>G (p.Gln235Arg)
c.947A>G (p.Gln316Arg)
c.922A>G
n.944A>G
Xg.111400991T>GCA414245797DCXc.704A>C (p.Gln235Pro)
c.947A>C (p.Gln316Pro)
c.922A>C
n.944A>C
Xg.111400992G>ACA414245798DCXc.703C>T (p.Gln235Ter)
c.946C>T (p.Gln316Ter)
c.921C>T
n.943C>T
ClinVar
Xg.111400992G>CCA414245799DCXc.703C>G (p.Gln235Glu)
c.946C>G (p.Gln316Glu)
c.921C>G
n.943C>G
Xg.111400992G>TCA414245800DCXc.703C>A (p.Gln235Lys)
c.946C>A (p.Gln316Lys)
c.921C>A
n.943C>A
Xg.111400993_111401004delCA2822982894DCXc.692_703del (p.Leu231_Lys234del)
c.935_946del (p.Leu312_Lys315del)
c.910_921del
n.932_943del
Xg.111400993T>ACA414245801DCXc.702A>T (p.Lys234Asn)
c.945A>T (p.Lys315Asn)
c.920A>T
n.942A>T
Xg.111400993T>CCA518113916DCXc.702A>G (p.Lys234=)
c.945A>G (p.Lys315=)
c.920A>G
n.942A>G
Xg.111400993T>GCA414245802DCXc.702A>C (p.Lys234Asn)
c.945A>C (p.Lys315Asn)
c.920A>C
n.942A>C
Xg.111400994T>ACA414245805DCXc.701A>T (p.Lys234Ile)
c.944A>T (p.Lys315Ile)
c.919A>T
n.941A>T
Xg.111400994T>CCA414245803DCXc.701A>G (p.Lys234Arg)
c.944A>G (p.Lys315Arg)
c.919A>G
n.941A>G
Xg.111400994T>GCA414245804DCXc.701A>C (p.Lys234Thr)
c.944A>C (p.Lys315Thr)
c.919A>C
n.941A>C
Xg.111400995T>ACA414245806DCXc.700A>T (p.Lys234Ter)
c.943A>T (p.Lys315Ter)
c.918A>T
n.940A>T
Xg.111400995T>CCA414245807DCXc.700A>G (p.Lys234Glu)
c.943A>G (p.Lys315Glu)
c.918A>G
n.940A>G
Xg.111400995T>GCA414245808DCXc.700A>C (p.Lys234Gln)
c.943A>C (p.Lys315Gln)
c.918A>C
n.940A>C
Xg.111400995T=CA2451697192DCXc.700A= (p.Lys234=)
c.943A= (p.Lys315=)
c.918A=
n.940A=
Xg.111400996T>ACA518113917DCXc.699A>T (p.Gly233=)
c.942A>T (p.Gly314=)
c.917A>T
n.939A>T
Xg.111400996T>CCA518113919DCXc.699A>G (p.Gly233=)
c.942A>G (p.Gly314=)
c.917A>G
n.939A>G
Xg.111400996T>GCA518113918DCXc.699A>C (p.Gly233=)
c.942A>C (p.Gly314=)
c.917A>C
n.939A>C
Xg.111400996_111401010dupCA206209DCXc.685_699dup (p.Gly233_Lys234insTyrThrLeuAspGly)
c.928_942dup (p.Gly314_Lys315insTyrThrLeuAspGly)
c.903_917dup
n.925_939dup
ClinVar dbSNP
Xg.111400997C>ACA414245809DCXc.698G>T (p.Gly233Val)
c.941G>T (p.Gly314Val)
c.916G>T
n.938G>T
Xg.111400997C>GCA414245810DCXc.698G>C (p.Gly233Ala)
c.941G>C (p.Gly314Ala)
c.916G>C
n.938G>C
Xg.111400997C>TCA414245811DCXc.698G>A (p.Gly233Glu)
c.941G>A (p.Gly314Glu)
c.916G>A
n.938G>A
Xg.111400998C>ACA414245812DCXc.697G>T (p.Gly233Ter)
c.940G>T (p.Gly314Ter)
c.915G>T
n.937G>T
Xg.111400998C>GCA414245813DCXc.697G>C (p.Gly233Arg)
c.940G>C (p.Gly314Arg)
c.915G>C
n.937G>C
Xg.111400998C>TCA414245814DCXc.697G>A (p.Gly233Arg)
c.940G>A (p.Gly314Arg)
c.915G>A
n.937G>A
Xg.111400999A=CA2451697193DCXc.696T= (p.Asp232=)
c.939T= (p.Asp313=)
c.914T=
n.936T=
Xg.111400999A>CCA414245815DCXc.696T>G (p.Asp232Glu)
c.939T>G (p.Asp313Glu)
c.914T>G
n.936T>G
Xg.111400999A>GCA518113920DCXc.696T>C (p.Asp232=)
c.939T>C (p.Asp313=)
c.914T>C
n.936T>C
dbSNP gnomAD v3 gnomAD v4
Xg.111400999A>TCA414245816DCXc.696T>A (p.Asp232Glu)
c.939T>A (p.Asp313Glu)
c.914T>A
n.936T>A
Xg.111401000T>ACA414245818DCXc.695A>T (p.Asp232Val)
c.938A>T (p.Asp313Val)
c.913A>T
n.935A>T
Xg.111401000T>CCA414245819DCXc.695A>G (p.Asp232Gly)
c.938A>G (p.Asp313Gly)
c.913A>G
n.935A>G
Xg.111401000T>GCA414245817DCXc.695A>C (p.Asp232Ala)
c.938A>C (p.Asp313Ala)
c.913A>C
n.935A>C
Xg.111401001C>ACA414245820DCXc.694G>T (p.Asp232Tyr)
c.937G>T (p.Asp313Tyr)
c.912G>T
n.934G>T
Xg.111401001C>GCA414245821DCXc.694G>C (p.Asp232His)
c.937G>C (p.Asp313His)
c.912G>C
n.934G>C
Xg.111401001C>TCA414245822DCXc.694G>A (p.Asp232Asn)
c.937G>A (p.Asp313Asn)
c.912G>A
n.934G>A
dbSNP
Xg.111401002C>ACA518113921DCXc.693G>T (p.Leu231=)
c.936G>T (p.Leu312=)
c.911G>T
n.933G>T
Xg.111401002C>GCA518113922DCXc.693G>C (p.Leu231=)
c.936G>C (p.Leu312=)
c.911G>C
n.933G>C
Xg.111401002C>TCA518113923DCXc.693G>A (p.Leu231=)
c.936G>A (p.Leu312=)
c.911G>A
n.933G>A
Xg.111401002_111401004delinsCAGCA2451697194DCXc.691_693delinsCTG (p.Leu231=)
c.934_936delinsCTG (p.Leu312=)
c.909_911delinsCTG
n.931_933delinsCTG
Xg.111401003A>CCA414245823DCXc.692T>G (p.Leu231Arg)
c.935T>G (p.Leu312Arg)
c.910T>G
n.932T>G
gnomAD v4
Xg.111401003A>GCA414245824DCXc.692T>C (p.Leu231Pro)
c.935T>C (p.Leu312Pro)
c.910T>C
n.932T>C
Xg.111401003A>TCA414245825DCXc.692T>A (p.Leu231Gln)
c.935T>A (p.Leu312Gln)
c.910T>A
n.932T>A
Xg.111401005_111401006delCA913191106DCXc.691_692del (p.Leu231GlyfsTer10)
c.934_935del (p.Leu312GlyfsTer10)
c.909_910del
n.931_932del
ClinVar dbSNP
Xg.111401004G>ACA10493314DCXc.691C>T (p.Leu231=)
c.934C>T (p.Leu312=)
c.909C>T
n.931C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401004G>CCA414245826DCXc.691C>G (p.Leu231Val)
c.934C>G (p.Leu312Val)
c.909C>G
n.931C>G
Xg.111401004G=CA2451697195DCXc.691C= (p.Leu231=)
c.934C= (p.Leu312=)
c.909C=
n.931C=
Xg.111401004G>TCA414245827DCXc.691C>A (p.Leu231Met)
c.934C>A (p.Leu312Met)
c.909C>A
n.931C>A
Xg.111401005A>CCA518113924DCXc.690T>G (p.Thr230=)
c.933T>G (p.Thr311=)
c.908T>G
n.930T>G
Xg.111401005A>GCA518113925DCXc.690T>C (p.Thr230=)
c.933T>C (p.Thr311=)
c.908T>C
n.930T>C
Xg.111401005A>TCA518113926DCXc.690T>A (p.Thr230=)
c.933T>A (p.Thr311=)
c.908T>A
n.930T>A
Xg.111401006G>ACA414245828DCXc.689C>T (p.Thr230Ile)
c.932C>T (p.Thr311Ile)
c.907C>T
n.929C>T
Xg.111401006G>CCA414245829DCXc.689C>G (p.Thr230Ser)
c.932C>G (p.Thr311Ser)
c.907C>G
n.929C>G
dbSNP gnomAD v2 gnomAD v4
Xg.111401006G=CA2451697196DCXc.689C= (p.Thr230=)
c.932C= (p.Thr311=)
c.907C=
n.929C=
Xg.111401006G>TCA414245830DCXc.689C>A (p.Thr230Asn)
c.932C>A (p.Thr311Asn)
c.907C>A
n.929C>A
Xg.111401007T>ACA414245831DCXc.688A>T (p.Thr230Ser)
c.931A>T (p.Thr311Ser)
c.906A>T
n.928A>T
Xg.111401007T>CCA414245832DCXc.688A>G (p.Thr230Ala)
c.931A>G (p.Thr311Ala)
c.906A>G
n.928A>G
dbSNP gnomAD v2 gnomAD v4
Xg.111401007T>GCA172054DCXc.688A>C (p.Thr230Pro)
c.931A>C (p.Thr311Pro)
c.906A>C
n.928A>C
ClinVar dbSNP
Xg.111401007T=CA2451697197DCXc.688A= (p.Thr230=)
c.931A= (p.Thr311=)
c.906A=
n.928A=
Xg.111401008G>ACA10493315DCXc.687C>T (p.Tyr229=)
c.930C>T (p.Tyr310=)
c.905C>T
n.927C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401008G>CCA414245834DCXc.687C>G (p.Tyr229Ter)
c.930C>G (p.Tyr310Ter)
c.905C>G
n.927C>G
Xg.111401008G=CA2451697198DCXc.687C= (p.Tyr229=)
c.930C= (p.Tyr310=)
c.905C=
n.927C=
Xg.111401008G>TCA414245833DCXc.687C>A (p.Tyr229Ter)
c.930C>A (p.Tyr310Ter)
c.905C>A
n.927C>A
Xg.111401009T>ACA414245835DCXc.686A>T (p.Tyr229Phe)
c.929A>T (p.Tyr310Phe)
c.904A>T
n.926A>T
Xg.111401009T>CCA414245836DCXc.686A>G (p.Tyr229Cys)
c.929A>G (p.Tyr310Cys)
c.904A>G
n.926A>G
Xg.111401009T>GCA414245837DCXc.686A>C (p.Tyr229Ser)
c.929A>C (p.Tyr310Ser)
c.904A>C
n.926A>C
Xg.111401009_111401011delinsTAGCA2451697199DCXc.684_686delinsCTA (p.Leu228=)
c.927_929delinsCTA (p.Leu309=)
c.902_904delinsCTA
n.924_926delinsCTA
Xg.111401010A>CCA414245838DCXc.685T>G (p.Tyr229Asp)
c.928T>G (p.Tyr310Asp)
c.903T>G
n.925T>G
Xg.111401010A>GCA414245839DCXc.685T>C (p.Tyr229His)
c.928T>C (p.Tyr310His)
c.903T>C
n.925T>C
Xg.111401010A>TCA414245840DCXc.685T>A (p.Tyr229Asn)
c.928T>A (p.Tyr310Asn)
c.903T>A
n.925T>A
Xg.111401012_111401013delCA645373314DCXc.684_685del (p.Tyr229HisfsTer12)
c.927_928del (p.Tyr310HisfsTer12)
c.902_903del
n.924_925del
ClinVar dbSNP
Xg.111401011G>ACA518113927DCXc.684C>T (p.Leu228=)
c.927C>T (p.Leu309=)
c.902C>T
n.924C>T
Xg.111401011G>CCA518113929DCXc.684C>G (p.Leu228=)
c.927C>G (p.Leu309=)
c.902C>G
n.924C>G
Xg.111401011G>TCA518113928DCXc.684C>A (p.Leu228=)
c.927C>A (p.Leu309=)
c.902C>A
n.924C>A
Xg.111401012A=CA2451697200DCXc.683T= (p.Leu228=)
c.926T= (p.Leu309=)
c.901T=
n.923T=
Xg.111401012A>CCA414245841DCXc.683T>G (p.Leu228Arg)
c.926T>G (p.Leu309Arg)
c.901T>G
n.923T>G
Xg.111401012A>GCA172051DCXc.683T>C (p.Leu228Pro)
c.926T>C (p.Leu309Pro)
c.901T>C
n.923T>C
ClinVar dbSNP
Xg.111401012A>TCA414245842DCXc.683T>A (p.Leu228His)
c.926T>A (p.Leu309His)
c.901T>A
n.923T>A
Xg.111401013G>ACA414245843DCXc.682C>T (p.Leu228Phe)
c.925C>T (p.Leu309Phe)
c.900C>T
n.922C>T
Xg.111401013G>CCA414245844DCXc.682C>G (p.Leu228Val)
c.925C>G (p.Leu309Val)
c.900C>G
n.922C>G
Xg.111401013G>TCA414245845DCXc.682C>A (p.Leu228Ile)
c.925C>A (p.Leu309Ile)
c.900C>A
n.922C>A
Xg.111401013_111401014delinsGTCA2451697201DCXc.681_682delinsAC (p.Lys227=)
c.924_925delinsAC (p.Lys308=)
c.899_900delinsAC
n.921_922delinsAC
Xg.111401014T>ACA414245846DCXc.681A>T (p.Lys227Asn)
c.924A>T (p.Lys308Asn)
c.899A>T
n.921A>T
Xg.111401014T>CCA518113930DCXc.681A>G (p.Lys227=)
c.924A>G (p.Lys308=)
c.899A>G
n.921A>G
dbSNP
Xg.111401014T>GCA414245847DCXc.681A>C (p.Lys227Asn)
c.924A>C (p.Lys308Asn)
c.899A>C
n.921A>C
gnomAD v4
Xg.111401014T=CA2451697202DCXc.681A= (p.Lys227=)
c.924A= (p.Lys308=)
c.899A=
n.921A=
Xg.111401019dupCA209792DCXc.681dup (p.Leu228ThrfsTer14)
c.924dup (p.Leu309ThrfsTer14)
c.899dup
n.921dup
ClinVar dbSNP
Xg.111401019delCA172050DCXc.681del (p.Lys227AsnfsTer10)
c.924del (p.Lys308AsnfsTer10)
c.899del
n.921del
ClinVar dbSNP COSMIC COSMIC
Xg.111401015T>ACA414245849DCXc.680A>T (p.Lys227Ile)
c.923A>T (p.Lys308Ile)
c.898A>T
n.920A>T
Xg.111401015T>CCA414245848DCXc.680A>G (p.Lys227Arg)
c.923A>G (p.Lys308Arg)
c.898A>G
n.920A>G
Xg.111401015T>GCA414245850DCXc.680A>C (p.Lys227Thr)
c.923A>C (p.Lys308Thr)
c.898A>C
n.920A>C
ClinVar
Xg.111401016T>ACA414245851DCXc.679A>T (p.Lys227Ter)
c.922A>T (p.Lys308Ter)
c.897A>T
n.919A>T
Xg.111401016T>CCA414245852DCXc.679A>G (p.Lys227Glu)
c.922A>G (p.Lys308Glu)
c.897A>G
n.919A>G
Xg.111401016T>GCA414245853DCXc.679A>C (p.Lys227Gln)
c.922A>C (p.Lys308Gln)
c.897A>C
n.919A>C
COSMIC COSMIC
Xg.111401017T>ACA414245854DCXc.678A>T (p.Lys226Asn)
c.921A>T (p.Lys307Asn)
c.896A>T
n.918A>T
Xg.111401017T>CCA518113931DCXc.678A>G (p.Lys226=)
c.921A>G (p.Lys307=)
c.896A>G
n.918A>G
Xg.111401017T>GCA414245855DCXc.678A>C (p.Lys226Asn)
c.921A>C (p.Lys307Asn)
c.896A>C
n.918A>C
Xg.111401018T>ACA414245856DCXc.677A>T (p.Lys226Ile)
c.920A>T (p.Lys307Ile)
c.895A>T
n.917A>T
Xg.111401018T>CCA414245857DCXc.677A>G (p.Lys226Arg)
c.920A>G (p.Lys307Arg)
c.895A>G
n.917A>G
Xg.111401018T>GCA414245858DCXc.677A>C (p.Lys226Thr)
c.920A>C (p.Lys307Thr)
c.895A>C
n.917A>C
ClinVar
Xg.111401019T>ACA414245859DCXc.676A>T (p.Lys226Ter)
c.919A>T (p.Lys307Ter)
c.894A>T
n.916A>T
Xg.111401019T>CCA414245860DCXc.676A>G (p.Lys226Glu)
c.919A>G (p.Lys307Glu)
c.894A>G
n.916A>G
Xg.111401019T>GCA414245861DCXc.676A>C (p.Lys226Gln)
c.919A>C (p.Lys307Gln)
c.894A>C
n.916A>C

Number of alleles fetched