Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.22992898dupCA8910012RBBP8c.1071dup (p.His358ThrfsTer8)
c.249dup (p.His84ThrfsTer8)
c.777dup (p.His260ThrfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
18g.22992897_22992898dupCA2641247339RBBP8c.1070_1071dup (p.His358AsnfsTer3)
c.248_249dup (p.His84AsnfsTer3)
c.776_777dup (p.His260AsnfsTer3)
 gnomAD v4
18g.22992898delCA8910011RBBP8c.1071del (p.Lys357AsnfsTer3)
c.249del (p.Lys83AsnfsTer3)
c.777del (p.Lys259AsnfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.22992896_22992898delCA2641247340RBBP8c.1069_1071del (p.Lys357del)
c.247_249del (p.Lys83del)
c.775_777del (p.Lys259del)
 gnomAD v4
18g.22992894A>CCA401776217RBBP8c.1067A>C (p.Lys356Thr)
c.245A>C (p.Lys82Thr)
c.773A>C (p.Lys258Thr)
18g.22992894A>GCA401776214RBBP8c.1067A>G (p.Lys356Arg)
c.245A>G (p.Lys82Arg)
c.773A>G (p.Lys258Arg)
18g.22992894A>TCA401776215RBBP8c.1067A>T (p.Lys356Ile)
c.245A>T (p.Lys82Ile)
c.773A>T (p.Lys258Ile)
18g.22992895A>CCA401776218RBBP8c.1068A>C (p.Lys356Asn)
c.246A>C (p.Lys82Asn)
c.774A>C (p.Lys258Asn)
18g.22992895A>GCA503521066RBBP8c.1068A>G (p.Lys356=)
c.246A>G (p.Lys82=)
c.774A>G (p.Lys258=)
18g.22992895A>TCA401776220RBBP8c.1068A>T (p.Lys356Asn)
c.246A>T (p.Lys82Asn)
c.774A>T (p.Lys258Asn)
18g.22992896A>CCA401776222RBBP8c.1069A>C (p.Lys357Gln)
c.247A>C (p.Lys83Gln)
c.775A>C (p.Lys259Gln)
18g.22992896A>GCA401776224RBBP8c.1069A>G (p.Lys357Glu)
c.247A>G (p.Lys83Glu)
c.775A>G (p.Lys259Glu)
18g.22992896A>TCA401776226RBBP8c.1069A>T (p.Lys357Ter)
c.247A>T (p.Lys83Ter)
c.775A>T (p.Lys259Ter)
 gnomAD v4
18g.22992897A=CA2289916155RBBP8c.1070A= (p.Lys357=)
c.248A= (p.Lys83=)
c.776A= (p.Lys259=)
18g.22992897A>CCA401776228RBBP8c.1070A>C (p.Lys357Thr)
c.248A>C (p.Lys83Thr)
c.776A>C (p.Lys259Thr)
18g.22992897A>GCA401776229RBBP8c.1070A>G (p.Lys357Arg)
c.248A>G (p.Lys83Arg)
c.776A>G (p.Lys259Arg)
 dbSNP
18g.22992897A>TCA401776230RBBP8c.1070A>T (p.Lys357Ile)
c.248A>T (p.Lys83Ile)
c.776A>T (p.Lys259Ile)
18g.22992898A=CA2289916159RBBP8c.1071A= (p.Lys357=)
c.249A= (p.Lys83=)
c.777A= (p.Lys259=)
18g.22992898A>CCA154889RBBP8c.1071A>C (p.Lys357Asn)
c.249A>C (p.Lys83Asn)
c.777A>C (p.Lys259Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992898A>GCA8910015RBBP8c.1071A>G (p.Lys357=)
c.249A>G (p.Lys83=)
c.777A>G (p.Lys259=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992898A>TCA401776233RBBP8c.1071A>T (p.Lys357Asn)
c.249A>T (p.Lys83Asn)
c.777A>T (p.Lys259Asn)
18g.22992898_22992899delinsACCA2289916162RBBP8c.1071_1072delinsAC (p.Lys357=)
c.249_250delinsAC (p.Lys83=)
c.777_778delinsAC (p.Lys259=)
18g.22992899delCA8910014RBBP8c.1072del (p.His358IlefsTer2)
c.250del (p.His84IlefsTer2)
c.778del (p.His260IlefsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992899C>ACA8910016RBBP8c.1072C>A (p.His358Asn)
c.250C>A (p.His84Asn)
c.778C>A (p.His260Asn)
 dbSNP ExAC gnomAD v2
18g.22992899C=CA2289916165RBBP8c.1072C= (p.His358=)
c.250C= (p.His84=)
c.778C= (p.His260=)
18g.22992899C>GCA401776236RBBP8c.1072C>G (p.His358Asp)
c.250C>G (p.His84Asp)
c.778C>G (p.His260Asp)
18g.22992899C>TCA401776238RBBP8c.1072C>T (p.His358Tyr)
c.250C>T (p.His84Tyr)
c.778C>T (p.His260Tyr)
 COSMIC COSMIC
18g.22992900A>CCA401776239RBBP8c.1073A>C (p.His358Pro)
c.251A>C (p.His84Pro)
c.779A>C (p.His260Pro)
18g.22992900A>GCA401776241RBBP8c.1073A>G (p.His358Arg)
c.251A>G (p.His84Arg)
c.779A>G (p.His260Arg)
 gnomAD v4 COSMIC COSMIC
18g.22992900A>TCA401776244RBBP8c.1073A>T (p.His358Leu)
c.251A>T (p.His84Leu)
c.779A>T (p.His260Leu)
18g.22992901T>ACA401776245RBBP8c.1074T>A (p.His358Gln)
c.252T>A (p.His84Gln)
c.780T>A (p.His260Gln)
18g.22992901T>CCA503521070RBBP8c.1074T>C (p.His358=)
c.252T>C (p.His84=)
c.780T>C (p.His260=)
18g.22992901T>GCA401776247RBBP8c.1074T>G (p.His358Gln)
c.252T>G (p.His84Gln)
c.780T>G (p.His260Gln)
18g.22992902C>ACA401776250RBBP8c.1075C>A (p.Leu359Met)
c.253C>A (p.Leu85Met)
c.781C>A (p.Leu261Met)
18g.22992902C=CA2289916171RBBP8c.1075C= (p.Leu359=)
c.253C= (p.Leu85=)
c.781C= (p.Leu261=)
18g.22992902C>GCA8910017RBBP8c.1075C>G (p.Leu359Val)
c.253C>G (p.Leu85Val)
c.781C>G (p.Leu261Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992902C>TCA503521072RBBP8c.1075C>T (p.Leu359=)
c.253C>T (p.Leu85=)
c.781C>T (p.Leu261=)
18g.22992903_22992909delCA2811798422RBBP8c.1076_1082del (p.Leu359HisfsTer12)
c.254_260del (p.Leu85HisfsTer12)
c.782_788del (p.Leu261HisfsTer12)
18g.22992903T>ACA401776252RBBP8c.1076T>A (p.Leu359Gln)
c.254T>A (p.Leu85Gln)
c.782T>A (p.Leu261Gln)
 gnomAD v4
18g.22992903T>CCA401776254RBBP8c.1076T>C (p.Leu359Pro)
c.254T>C (p.Leu85Pro)
c.782T>C (p.Leu261Pro)
18g.22992903T>GCA401776256RBBP8c.1076T>G (p.Leu359Arg)
c.254T>G (p.Leu85Arg)
c.782T>G (p.Leu261Arg)
18g.22992904G>ACA503521074RBBP8c.1077G>A (p.Leu359=)
c.255G>A (p.Leu85=)
c.783G>A (p.Leu261=)
18g.22992904G>CCA503521075RBBP8c.1077G>C (p.Leu359=)
c.255G>C (p.Leu85=)
c.783G>C (p.Leu261=)
18g.22992904G>TCA503521076RBBP8c.1077G>T (p.Leu359=)
c.255G>T (p.Leu85=)
c.783G>T (p.Leu261=)
18g.22992905A>CCA401776258RBBP8c.1078A>C (p.Lys360Gln)
c.256A>C (p.Lys86Gln)
c.784A>C (p.Lys262Gln)
18g.22992905A>GCA401776259RBBP8c.1078A>G (p.Lys360Glu)
c.256A>G (p.Lys86Glu)
c.784A>G (p.Lys262Glu)
18g.22992905A>TCA401776260RBBP8c.1078A>T (p.Lys360Ter)
c.256A>T (p.Lys86Ter)
c.784A>T (p.Lys262Ter)
18g.22992906A>CCA401776263RBBP8c.1079A>C (p.Lys360Thr)
c.257A>C (p.Lys86Thr)
c.785A>C (p.Lys262Thr)
18g.22992906A>GCA401776266RBBP8c.1079A>G (p.Lys360Arg)
c.257A>G (p.Lys86Arg)
c.785A>G (p.Lys262Arg)
18g.22992906A>TCA401776264RBBP8c.1079A>T (p.Lys360Ile)
c.257A>T (p.Lys86Ile)
c.785A>T (p.Lys262Ile)
18g.22992907A=CA2289916175RBBP8c.1080A= (p.Lys360=)
c.258A= (p.Lys86=)
c.786A= (p.Lys262=)
18g.22992907A>CCA401776267RBBP8c.1080A>C (p.Lys360Asn)
c.258A>C (p.Lys86Asn)
c.786A>C (p.Lys262Asn)
18g.22992907A>GCA503521081RBBP8c.1080A>G (p.Lys360=)
c.258A>G (p.Lys86=)
c.786A>G (p.Lys262=)
 dbSNP
18g.22992907A>TCA401776269RBBP8c.1080A>T (p.Lys360Asn)
c.258A>T (p.Lys86Asn)
c.786A>T (p.Lys262Asn)
18g.22992908A>CCA401776272RBBP8c.1081A>C (p.Thr361Pro)
c.259A>C (p.Thr87Pro)
c.787A>C (p.Thr263Pro)
18g.22992908A>GCA401776274RBBP8c.1081A>G (p.Thr361Ala)
c.259A>G (p.Thr87Ala)
c.787A>G (p.Thr263Ala)
18g.22992908A>TCA401776276RBBP8c.1081A>T (p.Thr361Ser)
c.259A>T (p.Thr87Ser)
c.787A>T (p.Thr263Ser)
18g.22992909C>ACA401776279RBBP8c.1082C>A (p.Thr361Lys)
c.260C>A (p.Thr87Lys)
c.788C>A (p.Thr263Lys)
18g.22992909C=CA2289916176RBBP8c.1082C= (p.Thr361=)
c.260C= (p.Thr87=)
c.788C= (p.Thr263=)
18g.22992909C>GCA401776282RBBP8c.1082C>G (p.Thr361Arg)
c.260C>G (p.Thr87Arg)
c.788C>G (p.Thr263Arg)
 gnomAD v4
18g.22992909C>TCA297050776RBBP8c.1082C>T (p.Thr361Ile)
c.260C>T (p.Thr87Ile)
c.788C>T (p.Thr263Ile)
 dbSNP gnomAD v3 gnomAD v4
18g.22992910A>CCA503521083RBBP8c.1083A>C (p.Thr361=)
c.261A>C (p.Thr87=)
c.789A>C (p.Thr263=)
 gnomAD v4
18g.22992910A>GCA503521084RBBP8c.1083A>G (p.Thr361=)
c.261A>G (p.Thr87=)
c.789A>G (p.Thr263=)
18g.22992910A>TCA503521085RBBP8c.1083A>T (p.Thr361=)
c.261A>T (p.Thr87=)
c.789A>T (p.Thr263=)
 gnomAD v4
18g.22992911C>ACA401776285RBBP8c.1084C>A (p.Leu362Ile)
c.262C>A (p.Leu88Ile)
c.790C>A (p.Leu264Ile)
18g.22992911C=CA2289916178RBBP8c.1084C= (p.Leu362=)
c.262C= (p.Leu88=)
c.790C= (p.Leu264=)
18g.22992911C>GCA401776288RBBP8c.1084C>G (p.Leu362Val)
c.262C>G (p.Leu88Val)
c.790C>G (p.Leu264Val)
18g.22992911C>TCA8910018RBBP8c.1084C>T (p.Leu362Phe)
c.262C>T (p.Leu88Phe)
c.790C>T (p.Leu264Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992912T>ACA401776293RBBP8c.1085T>A (p.Leu362His)
c.263T>A (p.Leu88His)
c.791T>A (p.Leu264His)
 COSMIC COSMIC
18g.22992912T>CCA401776295RBBP8c.1085T>C (p.Leu362Pro)
c.263T>C (p.Leu88Pro)
c.791T>C (p.Leu264Pro)
18g.22992912T>GCA401776291RBBP8c.1085T>G (p.Leu362Arg)
c.263T>G (p.Leu88Arg)
c.791T>G (p.Leu264Arg)
18g.22992913C>ACA503521088RBBP8c.1086C>A (p.Leu362=)
c.264C>A (p.Leu88=)
c.792C>A (p.Leu264=)
 gnomAD v4
18g.22992913C>GCA503521089RBBP8c.1086C>G (p.Leu362=)
c.264C>G (p.Leu88=)
c.792C>G (p.Leu264=)
18g.22992913C>TCA503521091RBBP8c.1086C>T (p.Leu362=)
c.264C>T (p.Leu88=)
c.792C>T (p.Leu264=)
18g.22992914C>ACA401776298RBBP8c.1087C>A (p.Pro363Thr)
c.265C>A (p.Pro89Thr)
c.793C>A (p.Pro265Thr)
 COSMIC COSMIC
18g.22992914C>GCA401776302RBBP8c.1087C>G (p.Pro363Ala)
c.265C>G (p.Pro89Ala)
c.793C>G (p.Pro265Ala)
18g.22992914C>TCA401776301RBBP8c.1087C>T (p.Pro363Ser)
c.265C>T (p.Pro89Ser)
c.793C>T (p.Pro265Ser)
18g.22992915C>ACA401776305RBBP8c.1088C>A (p.Pro363His)
c.266C>A (p.Pro89His)
c.794C>A (p.Pro265His)
18g.22992915C>GCA401776310RBBP8c.1088C>G (p.Pro363Arg)
c.266C>G (p.Pro89Arg)
c.794C>G (p.Pro265Arg)
18g.22992915C>TCA401776308RBBP8c.1088C>T (p.Pro363Leu)
c.266C>T (p.Pro89Leu)
c.794C>T (p.Pro265Leu)
18g.22992916T>ACA503521093RBBP8c.1089T>A (p.Pro363=)
c.267T>A (p.Pro89=)
c.795T>A (p.Pro265=)
18g.22992916T>CCA503521094RBBP8c.1089T>C (p.Pro363=)
c.267T>C (p.Pro89=)
c.795T>C (p.Pro265=)
18g.22992916T>GCA503521095RBBP8c.1089T>G (p.Pro363=)
c.267T>G (p.Pro89=)
c.795T>G (p.Pro265=)
 dbSNP
18g.22992916T=CA2289916181RBBP8c.1089T= (p.Pro363=)
c.267T= (p.Pro89=)
c.795T= (p.Pro265=)
18g.22992917T>ACA401776314RBBP8c.1090T>A (p.Phe364Ile)
c.268T>A (p.Phe90Ile)
c.796T>A (p.Phe266Ile)
18g.22992917T>CCA401776318RBBP8c.1090T>C (p.Phe364Leu)
c.268T>C (p.Phe90Leu)
c.796T>C (p.Phe266Leu)
18g.22992917T>GCA401776316RBBP8c.1090T>G (p.Phe364Val)
c.268T>G (p.Phe90Val)
c.796T>G (p.Phe266Val)
18g.22992918T>ACA401776320RBBP8c.1091T>A (p.Phe364Tyr)
c.269T>A (p.Phe90Tyr)
c.797T>A (p.Phe266Tyr)
18g.22992918T>CCA401776322RBBP8c.1091T>C (p.Phe364Ser)
c.269T>C (p.Phe90Ser)
c.797T>C (p.Phe266Ser)
18g.22992918T>GCA401776324RBBP8c.1091T>G (p.Phe364Cys)
c.269T>G (p.Phe90Cys)
c.797T>G (p.Phe266Cys)
18g.22992919T>ACA401776327RBBP8c.1092T>A (p.Phe364Leu)
c.270T>A (p.Phe90Leu)
c.798T>A (p.Phe266Leu)
18g.22992919T>CCA297050777RBBP8c.1092T>C (p.Phe364=)
c.270T>C (p.Phe90=)
c.798T>C (p.Phe266=)
 dbSNP gnomAD v4
18g.22992919T>GCA401776330RBBP8c.1092T>G (p.Phe364Leu)
c.270T>G (p.Phe90Leu)
c.798T>G (p.Phe266Leu)
18g.22992919T=CA2289916183RBBP8c.1092T= (p.Phe364=)
c.270T= (p.Phe90=)
c.798T= (p.Phe266=)
18g.22992920A=CA2289916187RBBP8c.1093A= (p.Ser365=)
c.271A= (p.Ser91=)
c.799A= (p.Ser267=)
18g.22992920A>CCA401776332RBBP8c.1093A>C (p.Ser365Arg)
c.271A>C (p.Ser91Arg)
c.799A>C (p.Ser267Arg)
 gnomAD v4
18g.22992920A>GCA401776335RBBP8c.1093A>G (p.Ser365Gly)
c.271A>G (p.Ser91Gly)
c.799A>G (p.Ser267Gly)
18g.22992920A>TCA401776338RBBP8c.1093A>T (p.Ser365Cys)
c.271A>T (p.Ser91Cys)
c.799A>T (p.Ser267Cys)
 dbSNP gnomAD v3 gnomAD v4
18g.22992921G>ACA401776345RBBP8c.1094G>A (p.Ser365Asn)
c.272G>A (p.Ser91Asn)
c.800G>A (p.Ser267Asn)
 dbSNP
18g.22992921G>CCA401776342RBBP8c.1094G>C (p.Ser365Thr)
c.272G>C (p.Ser91Thr)
c.800G>C (p.Ser267Thr)
18g.22992921G>TCA401776339RBBP8c.1094G>T (p.Ser365Ile)
c.272G>T (p.Ser91Ile)
c.800G>T (p.Ser267Ile)
18g.22992922C>ACA401776348RBBP8c.1095C>A (p.Ser365Arg)
c.273C>A (p.Ser91Arg)
c.801C>A (p.Ser267Arg)
18g.22992922C>GCA401776349RBBP8c.1095C>G (p.Ser365Arg)
c.273C>G (p.Ser91Arg)
c.801C>G (p.Ser267Arg)
18g.22992922C>TCA503521098RBBP8c.1095C>T (p.Ser365=)
c.273C>T (p.Ser91=)
c.801C>T (p.Ser267=)
 gnomAD v4
18g.22992923A>CCA401776352RBBP8c.1096A>C (p.Asn366His)
c.274A>C (p.Asn92His)
c.802A>C (p.Asn268His)
18g.22992923A>GCA401776354RBBP8c.1096A>G (p.Asn366Asp)
c.274A>G (p.Asn92Asp)
c.802A>G (p.Asn268Asp)
18g.22992923A>TCA401776357RBBP8c.1096A>T (p.Asn366Tyr)
c.274A>T (p.Asn92Tyr)
c.802A>T (p.Asn268Tyr)
18g.22992924A>CCA401776359RBBP8c.1097A>C (p.Asn366Thr)
c.275A>C (p.Asn92Thr)
c.803A>C (p.Asn268Thr)
18g.22992924A>GCA401776361RBBP8c.1097A>G (p.Asn366Ser)
c.275A>G (p.Asn92Ser)
c.803A>G (p.Asn268Ser)
18g.22992924A>TCA401776364RBBP8c.1097A>T (p.Asn366Ile)
c.275A>T (p.Asn92Ile)
c.803A>T (p.Asn268Ile)
18g.22992925C>ACA401776366RBBP8c.1098C>A (p.Asn366Lys)
c.276C>A (p.Asn92Lys)
c.804C>A (p.Asn268Lys)
18g.22992925C>GCA401776368RBBP8c.1098C>G (p.Asn366Lys)
c.276C>G (p.Asn92Lys)
c.804C>G (p.Asn268Lys)
18g.22992925C>TCA503521100RBBP8c.1098C>T (p.Asn366=)
c.276C>T (p.Asn92=)
c.804C>T (p.Asn268=)
18g.22992926A>CCA401776372RBBP8c.1099A>C (p.Thr367Pro)
c.277A>C (p.Thr93Pro)
c.805A>C (p.Thr269Pro)
18g.22992926A>GCA401776374RBBP8c.1099A>G (p.Thr367Ala)
c.277A>G (p.Thr93Ala)
c.805A>G (p.Thr269Ala)
18g.22992926A>TCA401776370RBBP8c.1099A>T (p.Thr367Ser)
c.277A>T (p.Thr93Ser)
c.805A>T (p.Thr269Ser)
18g.22992927C>ACA401776376RBBP8c.1100C>A (p.Thr367Asn)
c.278C>A (p.Thr93Asn)
c.806C>A (p.Thr269Asn)
18g.22992927C>GCA401776378RBBP8c.1100C>G (p.Thr367Ser)
c.278C>G (p.Thr93Ser)
c.806C>G (p.Thr269Ser)
18g.22992927C>TCA401776380RBBP8c.1100C>T (p.Thr367Ile)
c.278C>T (p.Thr93Ile)
c.806C>T (p.Thr269Ile)
18g.22992928T>ACA503521101RBBP8c.1101T>A (p.Thr367=)
c.279T>A (p.Thr93=)
c.807T>A (p.Thr269=)
18g.22992928T>CCA503521104RBBP8c.1101T>C (p.Thr367=)
c.279T>C (p.Thr93=)
c.807T>C (p.Thr269=)
 gnomAD v4
18g.22992928T>GCA503521102RBBP8c.1101T>G (p.Thr367=)
c.279T>G (p.Thr93=)
c.807T>G (p.Thr269=)
18g.22992929T>ACA401776383RBBP8c.1102T>A (p.Cys368Ser)
c.280T>A (p.Cys94Ser)
c.808T>A (p.Cys270Ser)
18g.22992929T>CCA401776386RBBP8c.1102T>C (p.Cys368Arg)
c.280T>C (p.Cys94Arg)
c.808T>C (p.Cys270Arg)
18g.22992929T>GCA401776387RBBP8c.1102T>G (p.Cys368Gly)
c.280T>G (p.Cys94Gly)
c.808T>G (p.Cys270Gly)
 gnomAD v4
18g.22992930G>ACA8910019RBBP8c.1103G>A (p.Cys368Tyr)
c.281G>A (p.Cys94Tyr)
c.809G>A (p.Cys270Tyr)
 ClinVar dbSNP ExAC gnomAD v2
18g.22992930G>CCA8910020RBBP8c.1103G>C (p.Cys368Ser)
c.281G>C (p.Cys94Ser)
c.809G>C (p.Cys270Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992930G=CA2289916189RBBP8c.1103G= (p.Cys368=)
c.281G= (p.Cys94=)
c.809G= (p.Cys270=)
18g.22992930G>TCA401776391RBBP8c.1103G>T (p.Cys368Phe)
c.281G>T (p.Cys94Phe)
c.809G>T (p.Cys270Phe)
18g.22992931T>ACA401776393RBBP8c.1104T>A (p.Cys368Ter)
c.282T>A (p.Cys94Ter)
c.810T>A (p.Cys270Ter)
18g.22992931T>CCA503521109RBBP8c.1104T>C (p.Cys368=)
c.282T>C (p.Cys94=)
c.810T>C (p.Cys270=)
18g.22992931T>GCA401776394RBBP8c.1104T>G (p.Cys368Trp)
c.282T>G (p.Cys94Trp)
c.810T>G (p.Cys270Trp)
18g.22992932A>CCA401776402RBBP8c.1105A>C (p.Ile369Leu)
c.283A>C (p.Ile95Leu)
c.811A>C (p.Ile271Leu)
18g.22992932A>GCA401776399RBBP8c.1105A>G (p.Ile369Val)
c.283A>G (p.Ile95Val)
c.811A>G (p.Ile271Val)
 gnomAD v4
18g.22992932A>TCA401776398RBBP8c.1105A>T (p.Ile369Leu)
c.283A>T (p.Ile95Leu)
c.811A>T (p.Ile271Leu)
18g.22992933T>ACA401776403RBBP8c.1106T>A (p.Ile369Lys)
c.284T>A (p.Ile95Lys)
c.812T>A (p.Ile271Lys)
18g.22992933T>CCA401776405RBBP8c.1106T>C (p.Ile369Thr)
c.284T>C (p.Ile95Thr)
c.812T>C (p.Ile271Thr)
18g.22992933T>GCA401776408RBBP8c.1106T>G (p.Ile369Arg)
c.284T>G (p.Ile95Arg)
c.812T>G (p.Ile271Arg)
18g.22992934A>CCA503521110RBBP8c.1107A>C (p.Ile369=)
c.285A>C (p.Ile95=)
c.813A>C (p.Ile271=)
18g.22992934A>GCA401776410RBBP8c.1107A>G (p.Ile369Met)
c.285A>G (p.Ile95Met)
c.813A>G (p.Ile271Met)
 gnomAD v4
18g.22992934A>TCA503521112RBBP8c.1107A>T (p.Ile369=)
c.285A>T (p.Ile95=)
c.813A>T (p.Ile271=)
18g.22992935T>ACA401776413RBBP8c.1108T>A (p.Ser370Thr)
c.286T>A (p.Ser96Thr)
c.814T>A (p.Ser272Thr)
18g.22992935T>CCA401776416RBBP8c.1108T>C (p.Ser370Pro)
c.286T>C (p.Ser96Pro)
c.814T>C (p.Ser272Pro)
 gnomAD v4
18g.22992935T>GCA401776418RBBP8c.1108T>G (p.Ser370Ala)
c.286T>G (p.Ser96Ala)
c.814T>G (p.Ser272Ala)
18g.22992936C>ACA401776420RBBP8c.1109C>A (p.Ser370Tyr)
c.287C>A (p.Ser96Tyr)
c.815C>A (p.Ser272Tyr)
18g.22992936C>GCA401776422RBBP8c.1109C>G (p.Ser370Cys)
c.287C>G (p.Ser96Cys)
c.815C>G (p.Ser272Cys)
18g.22992936C>TCA401776426RBBP8c.1109C>T (p.Ser370Phe)
c.287C>T (p.Ser96Phe)
c.815C>T (p.Ser272Phe)
 gnomAD v4
18g.22992937T>ACA503521114RBBP8c.1110T>A (p.Ser370=)
c.288T>A (p.Ser96=)
c.816T>A (p.Ser272=)
18g.22992937T>CCA503521115RBBP8c.1110T>C (p.Ser370=)
c.288T>C (p.Ser96=)
c.816T>C (p.Ser272=)
 dbSNP gnomAD v2 gnomAD v4
18g.22992937T>GCA8910021RBBP8c.1110T>G (p.Ser370=)
c.288T>G (p.Ser96=)
c.816T>G (p.Ser272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992937T=CA2289916192RBBP8c.1110T= (p.Ser370=)
c.288T= (p.Ser96=)
c.816T= (p.Ser272=)
18g.22992938A>CCA503521116RBBP8c.1111A>C (p.Arg371=)
c.289A>C (p.Arg97=)
c.817A>C (p.Arg273=)
 COSMIC COSMIC
18g.22992938A>GCA401776428RBBP8c.1111A>G (p.Arg371Gly)
c.289A>G (p.Arg97Gly)
c.817A>G (p.Arg273Gly)
18g.22992938A>TCA401776430RBBP8c.1111A>T (p.Arg371Ter)
c.289A>T (p.Arg97Ter)
c.817A>T (p.Arg273Ter)
18g.22992939G>ACA401776436RBBP8c.1112G>A (p.Arg371Lys)
c.290G>A (p.Arg97Lys)
c.818G>A (p.Arg273Lys)
 gnomAD v4
18g.22992939G>CCA401776438RBBP8c.1112G>C (p.Arg371Thr)
c.290G>C (p.Arg97Thr)
c.818G>C (p.Arg273Thr)
18g.22992939G>TCA401776434RBBP8c.1112G>T (p.Arg371Ile)
c.290G>T (p.Arg97Ile)
c.818G>T (p.Arg273Ile)
18g.22992939_22992940insTTTTTTCTACA2507003426RBBP8c.1112_1113insTTTTTTCTA (p.Arg371SerfsTer4)
c.290_291insTTTTTTCTA (p.Arg97SerfsTer4)
c.818_819insTTTTTTCTA (p.Arg273SerfsTer4)
18g.22992940A>CCA401776444RBBP8c.1113A>C (p.Arg371Ser)
c.291A>C (p.Arg97Ser)
c.819A>C (p.Arg273Ser)
18g.22992940A>GCA503521118RBBP8c.1113A>G (p.Arg371=)
c.291A>G (p.Arg97=)
c.819A>G (p.Arg273=)
18g.22992940A>TCA401776441RBBP8c.1113A>T (p.Arg371Ser)
c.291A>T (p.Arg97Ser)
c.819A>T (p.Arg273Ser)
18g.22992941T>ACA401776446RBBP8c.1114T>A (p.Leu372Ile)
c.292T>A (p.Leu98Ile)
c.820T>A (p.Leu274Ile)
18g.22992941T>CCA503521119RBBP8c.1114T>C (p.Leu372=)
c.292T>C (p.Leu98=)
c.820T>C (p.Leu274=)
18g.22992941T>GCA401776448RBBP8c.1114T>G (p.Leu372Val)
c.292T>G (p.Leu98Val)
c.820T>G (p.Leu274Val)
18g.22992941_22992942insCCA2553633107RBBP8c.1114_1115insC (p.Leu372SerfsTer5)
c.292_293insC (p.Leu98SerfsTer5)
c.820_821insC (p.Leu274SerfsTer5)
18g.22992942T>ACA401776450RBBP8c.1115T>A (p.Leu372Ter)
c.293T>A (p.Leu98Ter)
c.821T>A (p.Leu274Ter)
18g.22992942T>CCA401776452RBBP8c.1115T>C (p.Leu372Ser)
c.293T>C (p.Leu98Ser)
c.821T>C (p.Leu274Ser)
18g.22992942T>GCA8910022RBBP8c.1115T>G (p.Leu372Ter)
c.293T>G (p.Leu98Ter)
c.821T>G (p.Leu274Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992942T=CA2289916198RBBP8c.1115T= (p.Leu372=)
c.293T= (p.Leu98=)
c.821T= (p.Leu274=)
18g.22992943A>CCA401776456RBBP8c.1116A>C (p.Leu372Phe)
c.294A>C (p.Leu98Phe)
c.822A>C (p.Leu274Phe)
18g.22992943A>GCA503521123RBBP8c.1116A>G (p.Leu372=)
c.294A>G (p.Leu98=)
c.822A>G (p.Leu274=)
18g.22992943A>TCA401776457RBBP8c.1116A>T (p.Leu372Phe)
c.294A>T (p.Leu98Phe)
c.822A>T (p.Leu274Phe)
18g.22992944G>ACA401776459RBBP8c.1117G>A (p.Glu373Lys)
c.295G>A (p.Glu99Lys)
c.823G>A (p.Glu275Lys)
 dbSNP gnomAD v3 gnomAD v4
18g.22992944G>CCA401776461RBBP8c.1117G>C (p.Glu373Gln)
c.295G>C (p.Glu99Gln)
c.823G>C (p.Glu275Gln)
 gnomAD v4
18g.22992944G=CA2289916200RBBP8c.1117G= (p.Glu373=)
c.295G= (p.Glu99=)
c.823G= (p.Glu275=)
18g.22992944G>TCA401776462RBBP8c.1117G>T (p.Glu373Ter)
c.295G>T (p.Glu99Ter)
c.823G>T (p.Glu275Ter)
18g.22992945A>CCA401776465RBBP8c.1118A>C (p.Glu373Ala)
c.296A>C (p.Glu99Ala)
c.824A>C (p.Glu275Ala)
18g.22992945A>GCA401776466RBBP8c.1118A>G (p.Glu373Gly)
c.296A>G (p.Glu99Gly)
c.824A>G (p.Glu275Gly)
18g.22992945A>TCA401776469RBBP8c.1118A>T (p.Glu373Val)
c.296A>T (p.Glu99Val)
c.824A>T (p.Glu275Val)
18g.22992946A>CCA401776471RBBP8c.1119A>C (p.Glu373Asp)
c.297A>C (p.Glu99Asp)
c.825A>C (p.Glu275Asp)
18g.22992946A>GCA503521127RBBP8c.1119A>G (p.Glu373=)
c.297A>G (p.Glu99=)
c.825A>G (p.Glu275=)
18g.22992946A>TCA401776473RBBP8c.1119A>T (p.Glu373Asp)
c.297A>T (p.Glu99Asp)
c.825A>T (p.Glu275Asp)
18g.22992947A>CCA401776481RBBP8c.1120A>C (p.Lys374Gln)
c.298A>C (p.Lys100Gln)
c.826A>C (p.Lys276Gln)
18g.22992947A>GCA401776483RBBP8c.1120A>G (p.Lys374Glu)
c.298A>G (p.Lys100Glu)
c.826A>G (p.Lys276Glu)
18g.22992947A>TCA401776486RBBP8c.1120A>T (p.Lys374Ter)
c.298A>T (p.Lys100Ter)
c.826A>T (p.Lys276Ter)
18g.22992948A>CCA401776488RBBP8c.1121A>C (p.Lys374Thr)
c.299A>C (p.Lys100Thr)
c.827A>C (p.Lys276Thr)
18g.22992948A>GCA401776491RBBP8c.1121A>G (p.Lys374Arg)
c.299A>G (p.Lys100Arg)
c.827A>G (p.Lys276Arg)
18g.22992948A>TCA401776494RBBP8c.1121A>T (p.Lys374Ile)
c.299A>T (p.Lys100Ile)
c.827A>T (p.Lys276Ile)
18g.22992949A>CCA401776496RBBP8c.1122A>C (p.Lys374Asn)
c.300A>C (p.Lys100Asn)
c.828A>C (p.Lys276Asn)
18g.22992949A>GCA503521131RBBP8c.1122A>G (p.Lys374=)
c.300A>G (p.Lys100=)
c.828A>G (p.Lys276=)
18g.22992949A>TCA401776498RBBP8c.1122A>T (p.Lys374Asn)
c.300A>T (p.Lys100Asn)
c.828A>T (p.Lys276Asn)
18g.22992950A=CA2289916202RBBP8c.1123A= (p.Thr375=)
c.301A= (p.Thr101=)
c.829A= (p.Thr277=)
18g.22992950A>CCA401776505RBBP8c.1123A>C (p.Thr375Pro)
c.301A>C (p.Thr101Pro)
c.829A>C (p.Thr277Pro)
18g.22992950A>GCA8910023RBBP8c.1123A>G (p.Thr375Ala)
c.301A>G (p.Thr101Ala)
c.829A>G (p.Thr277Ala)
 dbSNP ExAC gnomAD v2
18g.22992950A>TCA401776509RBBP8c.1123A>T (p.Thr375Ser)
c.301A>T (p.Thr101Ser)
c.829A>T (p.Thr277Ser)
18g.22992951C>ACA401776518RBBP8c.1124C>A (p.Thr375Asn)
c.302C>A (p.Thr101Asn)
c.830C>A (p.Thr277Asn)
 gnomAD v4
18g.22992951C>GCA401776515RBBP8c.1124C>G (p.Thr375Ser)
c.302C>G (p.Thr101Ser)
c.830C>G (p.Thr277Ser)
18g.22992951C>TCA401776512RBBP8c.1124C>T (p.Thr375Ile)
c.302C>T (p.Thr101Ile)
c.830C>T (p.Thr277Ile)
 gnomAD v4
18g.22992952T>ACA503521134RBBP8c.1125T>A (p.Thr375=)
c.303T>A (p.Thr101=)
c.831T>A (p.Thr277=)
 COSMIC COSMIC
18g.22992952T>CCA503521135RBBP8c.1125T>C (p.Thr375=)
c.303T>C (p.Thr101=)
c.831T>C (p.Thr277=)
 gnomAD v4
18g.22992952T>GCA503521136RBBP8c.1125T>G (p.Thr375=)
c.303T>G (p.Thr101=)
c.831T>G (p.Thr277=)
18g.22992953A=CA2289916204RBBP8c.1126A= (p.Arg376=)
c.304A= (p.Arg102=)
c.832A= (p.Arg278=)
18g.22992953A>CCA503521137RBBP8c.1126A>C (p.Arg376=)
c.304A>C (p.Arg102=)
c.832A>C (p.Arg278=)
18g.22992953A>GCA401776519RBBP8c.1126A>G (p.Arg376Gly)
c.304A>G (p.Arg102Gly)
c.832A>G (p.Arg278Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.22992953A>TCA401776520RBBP8c.1126A>T (p.Arg376Ter)
c.304A>T (p.Arg102Ter)
c.832A>T (p.Arg278Ter)
18g.22992954G>ACA401776523RBBP8c.1127G>A (p.Arg376Lys)
c.305G>A (p.Arg102Lys)
c.833G>A (p.Arg278Lys)
18g.22992954G>CCA401776524RBBP8c.1127G>C (p.Arg376Thr)
c.305G>C (p.Arg102Thr)
c.833G>C (p.Arg278Thr)
18g.22992954G=CA2289916207RBBP8c.1127G= (p.Arg376=)
c.305G= (p.Arg102=)
c.833G= (p.Arg278=)
18g.22992954G>TCA8910024RBBP8c.1127G>T (p.Arg376Ile)
c.305G>T (p.Arg102Ile)
c.833G>T (p.Arg278Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992955A>CCA401776526RBBP8c.1128A>C (p.Arg376Ser)
c.306A>C (p.Arg102Ser)
c.834A>C (p.Arg278Ser)
18g.22992955A>GCA503521141RBBP8c.1128A>G (p.Arg376=)
c.306A>G (p.Arg102=)
c.834A>G (p.Arg278=)
18g.22992955A>TCA401776528RBBP8c.1128A>T (p.Arg376Ser)
c.306A>T (p.Arg102Ser)
c.834A>T (p.Arg278Ser)
18g.22992956T>ACA401776530RBBP8c.1129T>A (p.Ser377Thr)
c.307T>A (p.Ser103Thr)
c.835T>A (p.Ser279Thr)
18g.22992956T>CCA401776532RBBP8c.1129T>C (p.Ser377Pro)
c.307T>C (p.Ser103Pro)
c.835T>C (p.Ser279Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.22992956T>GCA401776535RBBP8c.1129T>G (p.Ser377Ala)
c.307T>G (p.Ser103Ala)
c.835T>G (p.Ser279Ala)
18g.22992956T=CA2289916209RBBP8c.1129T= (p.Ser377=)
c.307T= (p.Ser103=)
c.835T= (p.Ser279=)
18g.22992957C>ACA401776539RBBP8c.1130C>A (p.Ser377Ter)
c.308C>A (p.Ser103Ter)
c.836C>A (p.Ser279Ter)
 gnomAD v4
18g.22992957C>GCA401776540RBBP8c.1130C>G (p.Ser377Ter)
c.308C>G (p.Ser103Ter)
c.836C>G (p.Ser279Ter)
18g.22992957C>TCA401776542RBBP8c.1130C>T (p.Ser377Leu)
c.308C>T (p.Ser103Leu)
c.836C>T (p.Ser279Leu)
18g.22992958A>CCA503521147RBBP8c.1131A>C (p.Ser377=)
c.309A>C (p.Ser103=)
c.837A>C (p.Ser279=)
18g.22992958A>GCA503521149RBBP8c.1131A>G (p.Ser377=)
c.309A>G (p.Ser103=)
c.837A>G (p.Ser279=)
18g.22992958A>TCA503521151RBBP8c.1131A>T (p.Ser377=)
c.309A>T (p.Ser103=)
c.837A>T (p.Ser279=)
18g.22992959A>CCA401776551RBBP8c.1132A>C (p.Lys378Gln)
c.310A>C (p.Lys104Gln)
c.838A>C (p.Lys280Gln)
18g.22992959A>GCA401776548RBBP8c.1132A>G (p.Lys378Glu)
c.310A>G (p.Lys104Glu)
c.838A>G (p.Lys280Glu)
18g.22992959A>TCA401776550RBBP8c.1132A>T (p.Lys378Ter)
c.310A>T (p.Lys104Ter)
c.838A>T (p.Lys280Ter)
18g.22992960A>CCA401776554RBBP8c.1133A>C (p.Lys378Thr)
c.311A>C (p.Lys104Thr)
c.839A>C (p.Lys280Thr)
18g.22992960A>GCA401776556RBBP8c.1133A>G (p.Lys378Arg)
c.311A>G (p.Lys104Arg)
c.839A>G (p.Lys280Arg)
18g.22992960A>TCA401776559RBBP8c.1133A>T (p.Lys378Ile)
c.311A>T (p.Lys104Ile)
c.839A>T (p.Lys280Ile)
 gnomAD v4
18g.22992961A=CA2289916214RBBP8c.1134A= (p.Lys378=)
c.312A= (p.Lys104=)
c.840A= (p.Lys280=)
18g.22992961A>CCA401776561RBBP8c.1134A>C (p.Lys378Asn)
c.312A>C (p.Lys104Asn)
c.840A>C (p.Lys280Asn)
18g.22992961A>GCA8910025RBBP8c.1134A>G (p.Lys378=)
c.312A>G (p.Lys104=)
c.840A>G (p.Lys280=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992961A>TCA401776565RBBP8c.1134A>T (p.Lys378Asn)
c.312A>T (p.Lys104Asn)
c.840A>T (p.Lys280Asn)
18g.22992962T>ACA401776567RBBP8c.1135T>A (p.Ser379Thr)
c.313T>A (p.Ser105Thr)
c.841T>A (p.Ser281Thr)
18g.22992962T>CCA401776570RBBP8c.1135T>C (p.Ser379Pro)
c.313T>C (p.Ser105Pro)
c.841T>C (p.Ser281Pro)
18g.22992962T>GCA401776574RBBP8c.1135T>G (p.Ser379Ala)
c.313T>G (p.Ser105Ala)
c.841T>G (p.Ser281Ala)
18g.22992963C>ACA401776575RBBP8c.1136C>A (p.Ser379Tyr)
c.314C>A (p.Ser105Tyr)
c.842C>A (p.Ser281Tyr)
18g.22992963C>GCA401776578RBBP8c.1136C>G (p.Ser379Cys)
c.314C>G (p.Ser105Cys)
c.842C>G (p.Ser281Cys)
 dbSNP gnomAD v4
18g.22992963C>TCA401776580RBBP8c.1136C>T (p.Ser379Phe)
c.314C>T (p.Ser105Phe)
c.842C>T (p.Ser281Phe)
18g.22992964T>ACA503521157RBBP8c.1137T>A (p.Ser379=)
c.315T>A (p.Ser105=)
c.843T>A (p.Ser281=)
18g.22992964T>CCA503521158RBBP8c.1137T>C (p.Ser379=)
c.315T>C (p.Ser105=)
c.843T>C (p.Ser281=)
18g.22992964T>GCA503521159RBBP8c.1137T>G (p.Ser379=)
c.315T>G (p.Ser105=)
c.843T>G (p.Ser281=)
18g.22992965G>ACA401776585RBBP8c.1138G>A (p.Glu380Lys)
c.316G>A (p.Glu106Lys)
c.844G>A (p.Glu282Lys)
18g.22992965G>CCA401776587RBBP8c.1138G>C (p.Glu380Gln)
c.316G>C (p.Glu106Gln)
c.844G>C (p.Glu282Gln)
18g.22992965G>TCA401776582RBBP8c.1138G>T (p.Glu380Ter)
c.316G>T (p.Glu106Ter)
c.844G>T (p.Glu282Ter)
18g.22992966A>CCA401776599RBBP8c.1139A>C (p.Glu380Ala)
c.317A>C (p.Glu106Ala)
c.845A>C (p.Glu282Ala)
18g.22992966A>GCA401776594RBBP8c.1139A>G (p.Glu380Gly)
c.317A>G (p.Glu106Gly)
c.845A>G (p.Glu282Gly)
18g.22992966A>TCA401776597RBBP8c.1139A>T (p.Glu380Val)
c.317A>T (p.Glu106Val)
c.845A>T (p.Glu282Val)
18g.22992967A>CCA401776601RBBP8c.1140A>C (p.Glu380Asp)
c.318A>C (p.Glu106Asp)
c.846A>C (p.Glu282Asp)
18g.22992967A>GCA503521162RBBP8c.1140A>G (p.Glu380=)
c.318A>G (p.Glu106=)
c.846A>G (p.Glu282=)
18g.22992967A>TCA401776603RBBP8c.1140A>T (p.Glu380Asp)
c.318A>T (p.Glu106Asp)
c.846A>T (p.Glu282Asp)
18g.22992968G>ACA401776606RBBP8c.1141G>A (p.Asp381Asn)
c.319G>A (p.Asp107Asn)
c.847G>A (p.Asp283Asn)
18g.22992968G>CCA401776607RBBP8c.1141G>C (p.Asp381His)
c.319G>C (p.Asp107His)
c.847G>C (p.Asp283His)
18g.22992968G>TCA401776608RBBP8c.1141G>T (p.Asp381Tyr)
c.319G>T (p.Asp107Tyr)
c.847G>T (p.Asp283Tyr)
18g.22992969A=CA2289916217RBBP8c.1142A= (p.Asp381=)
c.320A= (p.Asp107=)
c.848A= (p.Asp283=)
18g.22992969A>CCA401776615RBBP8c.1142A>C (p.Asp381Ala)
c.320A>C (p.Asp107Ala)
c.848A>C (p.Asp283Ala)
 gnomAD v4
18g.22992969A>GCA401776611RBBP8c.1142A>G (p.Asp381Gly)
c.320A>G (p.Asp107Gly)
c.848A>G (p.Asp283Gly)
 dbSNP gnomAD v4
18g.22992969A>TCA401776612RBBP8c.1142A>T (p.Asp381Val)
c.320A>T (p.Asp107Val)
c.848A>T (p.Asp283Val)
 gnomAD v4
18g.22992970T>ACA401776617RBBP8c.1143T>A (p.Asp381Glu)
c.321T>A (p.Asp107Glu)
c.849T>A (p.Asp283Glu)
18g.22992970T>CCA503521166RBBP8c.1143T>C (p.Asp381=)
c.321T>C (p.Asp107=)
c.849T>C (p.Asp283=)
18g.22992970T>GCA401776619RBBP8c.1143T>G (p.Asp381Glu)
c.321T>G (p.Asp107Glu)
c.849T>G (p.Asp283Glu)
18g.22992971A>CCA401776622RBBP8c.1144A>C (p.Ser382Arg)
c.322A>C (p.Ser108Arg)
c.850A>C (p.Ser284Arg)
18g.22992971A>GCA401776625RBBP8c.1144A>G (p.Ser382Gly)
c.322A>G (p.Ser108Gly)
c.850A>G (p.Ser284Gly)
 gnomAD v4
18g.22992971A>TCA401776627RBBP8c.1144A>T (p.Ser382Cys)
c.322A>T (p.Ser108Cys)
c.850A>T (p.Ser284Cys)
18g.22992972G>ACA401776630RBBP8c.1145G>A (p.Ser382Asn)
c.323G>A (p.Ser108Asn)
c.851G>A (p.Ser284Asn)
18g.22992972G>CCA401776635RBBP8c.1145G>C (p.Ser382Thr)
c.323G>C (p.Ser108Thr)
c.851G>C (p.Ser284Thr)
18g.22992972G>TCA401776633RBBP8c.1145G>T (p.Ser382Ile)
c.323G>T (p.Ser108Ile)
c.851G>T (p.Ser284Ile)
18g.22992973T>ACA401776636RBBP8c.1146T>A (p.Ser382Arg)
c.324T>A (p.Ser108Arg)
c.852T>A (p.Ser284Arg)
18g.22992973T>CCA503521172RBBP8c.1146T>C (p.Ser382=)
c.324T>C (p.Ser108=)
c.852T>C (p.Ser284=)
18g.22992973T>GCA401776638RBBP8c.1146T>G (p.Ser382Arg)
c.324T>G (p.Ser108Arg)
c.852T>G (p.Ser284Arg)
18g.22992974G>ACA8910026RBBP8c.1147G>A (p.Ala383Thr)
c.325G>A (p.Ala109Thr)
c.853G>A (p.Ala285Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992974G>CCA401776641RBBP8c.1147G>C (p.Ala383Pro)
c.325G>C (p.Ala109Pro)
c.853G>C (p.Ala285Pro)
18g.22992974G=CA2289916219RBBP8c.1147G= (p.Ala383=)
c.325G= (p.Ala109=)
c.853G= (p.Ala285=)
18g.22992974G>TCA401776644RBBP8c.1147G>T (p.Ala383Ser)
c.325G>T (p.Ala109Ser)
c.853G>T (p.Ala285Ser)
 gnomAD v4 COSMIC COSMIC
18g.22992975C>ACA401776647RBBP8c.1148C>A (p.Ala383Asp)
c.326C>A (p.Ala109Asp)
c.854C>A (p.Ala285Asp)
18g.22992975C>GCA401776650RBBP8c.1148C>G (p.Ala383Gly)
c.326C>G (p.Ala109Gly)
c.854C>G (p.Ala285Gly)
 gnomAD v4
18g.22992975C>TCA401776651RBBP8c.1148C>T (p.Ala383Val)
c.326C>T (p.Ala109Val)
c.854C>T (p.Ala285Val)
 gnomAD v4
18g.22992976C>ACA503521180RBBP8c.1149C>A (p.Ala383=)
c.327C>A (p.Ala109=)
c.855C>A (p.Ala285=)
18g.22992976C=CA2289916223RBBP8c.1149C= (p.Ala383=)
c.327C= (p.Ala109=)
c.855C= (p.Ala285=)
18g.22992976C>GCA503521182RBBP8c.1149C>G (p.Ala383=)
c.327C>G (p.Ala109=)
c.855C>G (p.Ala285=)
 dbSNP gnomAD v3 gnomAD v4
18g.22992976C>TCA503521184RBBP8c.1149C>T (p.Ala383=)
c.327C>T (p.Ala109=)
c.855C>T (p.Ala285=)
18g.22992977C>ACA401776653RBBP8c.1150C>A (p.Leu384Ile)
c.328C>A (p.Leu110Ile)
c.856C>A (p.Leu286Ile)
18g.22992977C>GCA401776655RBBP8c.1150C>G (p.Leu384Val)
c.328C>G (p.Leu110Val)
c.856C>G (p.Leu286Val)
18g.22992977C>TCA401776658RBBP8c.1150C>T (p.Leu384Phe)
c.328C>T (p.Leu110Phe)
c.856C>T (p.Leu286Phe)
18g.22992978T>ACA401776659RBBP8c.1151T>A (p.Leu384His)
c.329T>A (p.Leu110His)
c.857T>A (p.Leu286His)
18g.22992978T>CCA401776662RBBP8c.1151T>C (p.Leu384Pro)
c.329T>C (p.Leu110Pro)
c.857T>C (p.Leu286Pro)
18g.22992978T>GCA401776660RBBP8c.1151T>G (p.Leu384Arg)
c.329T>G (p.Leu110Arg)
c.857T>G (p.Leu286Arg)
18g.22992979T>ACA503521186RBBP8c.1152T>A (p.Leu384=)
c.330T>A (p.Leu110=)
c.858T>A (p.Leu286=)
18g.22992979T>CCA503521187RBBP8c.1152T>C (p.Leu384=)
c.330T>C (p.Leu110=)
c.858T>C (p.Leu286=)
18g.22992979T>GCA503521189RBBP8c.1152T>G (p.Leu384=)
c.330T>G (p.Leu110=)
c.858T>G (p.Leu286=)
18g.22992980T>ACA401776664RBBP8c.1153T>A (p.Phe385Ile)
c.331T>A (p.Phe111Ile)
c.859T>A (p.Phe287Ile)
18g.22992980T>CCA401776665RBBP8c.1153T>C (p.Phe385Leu)
c.331T>C (p.Phe111Leu)
c.859T>C (p.Phe287Leu)
18g.22992980T>GCA401776667RBBP8c.1153T>G (p.Phe385Val)
c.331T>G (p.Phe111Val)
c.859T>G (p.Phe287Val)
 gnomAD v4
18g.22992981T>ACA401776670RBBP8c.1154T>A (p.Phe385Tyr)
c.332T>A (p.Phe111Tyr)
c.860T>A (p.Phe287Tyr)
18g.22992981T>CCA401776672RBBP8c.1154T>C (p.Phe385Ser)
c.332T>C (p.Phe111Ser)
c.860T>C (p.Phe287Ser)
18g.22992981T>GCA401776675RBBP8c.1154T>G (p.Phe385Cys)
c.332T>G (p.Phe111Cys)
c.860T>G (p.Phe287Cys)
18g.22992982C>ACA401776677RBBP8c.1155C>A (p.Phe385Leu)
c.333C>A (p.Phe111Leu)
c.861C>A (p.Phe287Leu)
18g.22992982C>GCA401776680RBBP8c.1155C>G (p.Phe385Leu)
c.333C>G (p.Phe111Leu)
c.861C>G (p.Phe287Leu)
18g.22992982C>TCA503520895RBBP8c.1155C>T (p.Phe385=)
c.333C>T (p.Phe111=)
c.861C>T (p.Phe287=)
 gnomAD v4
18g.22992983A=CA2289916236RBBP8c.1156A= (p.Thr386=)
c.334A= (p.Thr112=)
c.862A= (p.Thr288=)
18g.22992983A>CCA401776681RBBP8c.1156A>C (p.Thr386Pro)
c.334A>C (p.Thr112Pro)
c.862A>C (p.Thr288Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.22992983A>GCA401776682RBBP8c.1156A>G (p.Thr386Ala)
c.334A>G (p.Thr112Ala)
c.862A>G (p.Thr288Ala)
18g.22992983A>TCA401776684RBBP8c.1156A>T (p.Thr386Ser)
c.334A>T (p.Thr112Ser)
c.862A>T (p.Thr288Ser)
18g.22992984C>ACA401776689RBBP8c.1157C>A (p.Thr386Lys)
c.335C>A (p.Thr112Lys)
c.863C>A (p.Thr288Lys)
18g.22992984C>GCA401776686RBBP8c.1157C>G (p.Thr386Arg)
c.335C>G (p.Thr112Arg)
c.863C>G (p.Thr288Arg)
18g.22992984C>TCA401776685RBBP8c.1157C>T (p.Thr386Ile)
c.335C>T (p.Thr112Ile)
c.863C>T (p.Thr288Ile)
18g.22992985A>CCA503520896RBBP8c.1158A>C (p.Thr386=)
c.336A>C (p.Thr112=)
c.864A>C (p.Thr288=)
18g.22992985A>GCA503520897RBBP8c.1158A>G (p.Thr386=)
c.336A>G (p.Thr112=)
c.864A>G (p.Thr288=)
18g.22992985A>TCA503520898RBBP8c.1158A>T (p.Thr386=)
c.336A>T (p.Thr112=)
c.864A>T (p.Thr288=)
18g.22992986C>ACA401776691RBBP8c.1159C>A (p.His387Asn)
c.337C>A (p.His113Asn)
c.865C>A (p.His289Asn)
18g.22992986C=CA2289916240RBBP8c.1159C= (p.His387=)
c.337C= (p.His113=)
c.865C= (p.His289=)
18g.22992986C>GCA401776692RBBP8c.1159C>G (p.His387Asp)
c.337C>G (p.His113Asp)
c.865C>G (p.His289Asp)
18g.22992986C>TCA8910027RBBP8c.1159C>T (p.His387Tyr)
c.337C>T (p.His113Tyr)
c.865C>T (p.His289Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992987A=CA2289916242RBBP8c.1160A= (p.His387=)
c.338A= (p.His113=)
c.866A= (p.His289=)
18g.22992987A>CCA401776695RBBP8c.1160A>C (p.His387Pro)
c.338A>C (p.His113Pro)
c.866A>C (p.His289Pro)
18g.22992987A>GCA401776698RBBP8c.1160A>G (p.His387Arg)
c.338A>G (p.His113Arg)
c.866A>G (p.His289Arg)
 dbSNP
18g.22992987A>TCA401776699RBBP8c.1160A>T (p.His387Leu)
c.338A>T (p.His113Leu)
c.866A>T (p.His289Leu)
18g.22992988T>ACA401776701RBBP8c.1161T>A (p.His387Gln)
c.339T>A (p.His113Gln)
c.867T>A (p.His289Gln)
18g.22992988T>CCA503520899RBBP8c.1161T>C (p.His387=)
c.339T>C (p.His113=)
c.867T>C (p.His289=)
18g.22992988T>GCA401776703RBBP8c.1161T>G (p.His387Gln)
c.339T>G (p.His113Gln)
c.867T>G (p.His289Gln)
18g.22992988_22992990delinsTCACA2289916247RBBP8c.1161_1163delinsTCA (p.His387=)
c.339_341delinsTCA (p.His113=)
c.867_869delinsTCA (p.His289=)
18g.22992989_22992997dupCA2641247341RBBP8c.1162_1170dup (p.Leu390_Gly391insHisSerLeu)
c.340_348dup (p.Leu116_Gly117insHisSerLeu)
c.868_876dup (p.Leu292_Gly293insHisSerLeu)
 gnomAD v4
18g.22992989C>ACA401776705RBBP8c.1162C>A (p.His388Asn)
c.340C>A (p.His114Asn)
c.868C>A (p.His290Asn)
 dbSNP
18g.22992989C=CA2289916251RBBP8c.1162C= (p.His388=)
c.340C= (p.His114=)
c.868C= (p.His290=)
18g.22992989C>GCA401776707RBBP8c.1162C>G (p.His388Asp)
c.340C>G (p.His114Asp)
c.868C>G (p.His290Asp)
 gnomAD v4
18g.22992989C>TCA401776708RBBP8c.1162C>T (p.His388Tyr)
c.340C>T (p.His114Tyr)
c.868C>T (p.His290Tyr)
 gnomAD v4
18g.22992991_22992992delCA297050841RBBP8c.1164_1165del (p.His388GlnfsTer5)
c.342_343del (p.His114GlnfsTer5)
c.870_871del (p.His290GlnfsTer5)
 dbSNP
18g.22992990A>CCA401776714RBBP8c.1163A>C (p.His388Pro)
c.341A>C (p.His114Pro)
c.869A>C (p.His290Pro)
18g.22992990A>GCA401776716RBBP8c.1163A>G (p.His388Arg)
c.341A>G (p.His114Arg)
c.869A>G (p.His290Arg)
18g.22992990A>TCA401776712RBBP8c.1163A>T (p.His388Leu)
c.341A>T (p.His114Leu)
c.869A>T (p.His290Leu)
18g.22992991C>ACA401776721RBBP8c.1164C>A (p.His388Gln)
c.342C>A (p.His114Gln)
c.870C>A (p.His290Gln)
18g.22992991C>GCA401776718RBBP8c.1164C>G (p.His388Gln)
c.342C>G (p.His114Gln)
c.870C>G (p.His290Gln)
18g.22992991C>TCA503520900RBBP8c.1164C>T (p.His388=)
c.342C>T (p.His114=)
c.870C>T (p.His290=)
 dbSNP
18g.22992992A>CCA401776725RBBP8c.1165A>C (p.Ser389Arg)
c.343A>C (p.Ser115Arg)
c.871A>C (p.Ser291Arg)
18g.22992992A>GCA401776730RBBP8c.1165A>G (p.Ser389Gly)
c.343A>G (p.Ser115Gly)
c.871A>G (p.Ser291Gly)
18g.22992992A>TCA401776731RBBP8c.1165A>T (p.Ser389Cys)
c.343A>T (p.Ser115Cys)
c.871A>T (p.Ser291Cys)
18g.22992993G>ACA401776733RBBP8c.1166G>A (p.Ser389Asn)
c.344G>A (p.Ser115Asn)
c.872G>A (p.Ser291Asn)
18g.22992993G>CCA401776734RBBP8c.1166G>C (p.Ser389Thr)
c.344G>C (p.Ser115Thr)
c.872G>C (p.Ser291Thr)
18g.22992993G>TCA401776737RBBP8c.1166G>T (p.Ser389Ile)
c.344G>T (p.Ser115Ile)
c.872G>T (p.Ser291Ile)
18g.22992994T>ACA401776739RBBP8c.1167T>A (p.Ser389Arg)
c.345T>A (p.Ser115Arg)
c.873T>A (p.Ser291Arg)
18g.22992994T>CCA8910028RBBP8c.1167T>C (p.Ser389=)
c.345T>C (p.Ser115=)
c.873T>C (p.Ser291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992994T>GCA401776740RBBP8c.1167T>G (p.Ser389Arg)
c.345T>G (p.Ser115Arg)
c.873T>G (p.Ser291Arg)
18g.22992994T=CA2289916256RBBP8c.1167T= (p.Ser389=)
c.345T= (p.Ser115=)
c.873T= (p.Ser291=)

Number of alleles fetched