Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31524532C>ACA402135128DSG2n.606C>A
c.606C>A
c.775C>A (p.Gln259Lys)
c.241C>A (p.Gln81Lys)
18g.31524532C=CA2293857021DSG2n.606C=
c.606C=
c.775C= (p.Gln259=)
c.241C= (p.Gln81=)
18g.31524532C>GCA402135126DSG2n.606C>G
c.606C>G
c.775C>G (p.Gln259Glu)
c.241C>G (p.Gln81Glu)
dbSNP
18g.31524532C>TCA402135125DSG2n.606C>T
c.606C>T
c.775C>T (p.Gln259Ter)
c.241C>T (p.Gln81Ter)
18g.31524533A>CCA402135130DSG2n.607A>C
c.607A>C
c.776A>C (p.Gln259Pro)
c.242A>C (p.Gln81Pro)
18g.31524533A>GCA402135131DSG2n.607A>G
c.607A>G
c.776A>G (p.Gln259Arg)
c.242A>G (p.Gln81Arg)
18g.31524533A>TCA402135132DSG2n.607A>T
c.607A>T
c.776A>T (p.Gln259Leu)
c.242A>T (p.Gln81Leu)
18g.31524534G>ACA503599105DSG2n.608G>A
c.608G>A
c.777G>A (p.Gln259=)
c.243G>A (p.Gln81=)
COSMIC
18g.31524534G>CCA402135134DSG2n.608G>C
c.608G>C
c.777G>C (p.Gln259His)
c.243G>C (p.Gln81His)
18g.31524534G>TCA402135135DSG2n.608G>T
c.608G>T
c.777G>T (p.Gln259His)
c.243G>T (p.Gln81His)
18g.31524535A>CCA402135137DSG2n.609A>C
c.609A>C
c.778A>C (p.Ile260Leu)
c.244A>C (p.Ile82Leu)
18g.31524535A>GCA402135138DSG2n.609A>G
c.609A>G
c.778A>G (p.Ile260Val)
c.244A>G (p.Ile82Val)
18g.31524535A>TCA402135140DSG2n.609A>T
c.609A>T
c.778A>T (p.Ile260Phe)
c.244A>T (p.Ile82Phe)
18g.31524536T>ACA402135142DSG2n.610T>A
c.610T>A
c.779T>A (p.Ile260Asn)
c.245T>A (p.Ile82Asn)
18g.31524536T>CCA402135144DSG2n.610T>C
c.610T>C
c.779T>C (p.Ile260Thr)
c.245T>C (p.Ile82Thr)
18g.31524536T>GCA402135145DSG2n.610T>G
c.610T>G
c.779T>G (p.Ile260Ser)
c.245T>G (p.Ile82Ser)
18g.31524537T>ACA503599116DSG2n.611T>A
c.611T>A
c.780T>A (p.Ile260=)
c.246T>A (p.Ile82=)
18g.31524537T>CCA503599113DSG2n.611T>C
c.611T>C
c.780T>C (p.Ile260=)
c.246T>C (p.Ile82=)
dbSNP
18g.31524537T>GCA402135147DSG2n.611T>G
c.611T>G
c.780T>G (p.Ile260Met)
c.246T>G (p.Ile82Met)
ClinVar gnomAD v4
18g.31524538C>ACA402135151DSG2n.612C>A
c.612C>A
c.781C>A (p.Arg261Ser)
c.247C>A (p.Arg83Ser)
18g.31524538C=CA2293857023DSG2n.612C=
c.612C=
c.781C= (p.Arg261=)
c.247C= (p.Arg83=)
18g.31524538C>GCA402135150DSG2n.612C>G
c.612C>G
c.781C>G (p.Arg261Gly)
c.247C>G (p.Arg83Gly)
18g.31524538C>TCA297731895DSG2n.612C>T
c.612C>T
c.781C>T (p.Arg261Cys)
c.247C>T (p.Arg83Cys)
ClinVar dbSNP gnomAD v4 COSMIC
18g.31524539G>ACA022257DSG2n.613G>A
c.613G>A
c.782G>A (p.Arg261His)
c.248G>A (p.Arg83His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524539G>CCA402135154DSG2n.613G>C
c.613G>C
c.782G>C (p.Arg261Pro)
c.248G>C (p.Arg83Pro)
18g.31524539G=CA2293857025DSG2n.613G=
c.613G=
c.782G= (p.Arg261=)
c.248G= (p.Arg83=)
18g.31524539G>TCA049879DSG2n.613G>T
c.613G>T
c.782G>T (p.Arg261Leu)
c.248G>T (p.Arg83Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524540T>ACA049892DSG2n.614T>A
c.614T>A
c.783T>A (p.Arg261=)
c.249T>A (p.Arg83=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524540T>CCA503599125DSG2n.614T>C
c.614T>C
c.783T>C (p.Arg261=)
c.249T>C (p.Arg83=)
18g.31524540T>GCA503599126DSG2n.614T>G
c.614T>G
c.783T>G (p.Arg261=)
c.249T>G (p.Arg83=)
18g.31524540T=CA2293857030DSG2n.614T=
c.614T=
c.783T= (p.Arg261=)
c.249T= (p.Arg83=)
18g.31524541A=CA2293857032DSG2n.615A=
c.615A=
c.784A= (p.Ile262=)
c.250A= (p.Ile84=)
18g.31524541A>CCA402135155DSG2n.615A>C
c.615A>C
c.784A>C (p.Ile262Leu)
c.250A>C (p.Ile84Leu)
18g.31524541A>GCA402135157DSG2n.615A>G
c.615A>G
c.784A>G (p.Ile262Val)
c.250A>G (p.Ile84Val)
ClinVar dbSNP
18g.31524541A>TCA402135158DSG2n.615A>T
c.615A>T
c.784A>T (p.Ile262Phe)
c.250A>T (p.Ile84Phe)
18g.31524542T>ACA402135161DSG2n.616T>A
c.616T>A
c.785T>A (p.Ile262Asn)
c.251T>A (p.Ile84Asn)
18g.31524542T>CCA402135162DSG2n.616T>C
c.616T>C
c.785T>C (p.Ile262Thr)
c.251T>C (p.Ile84Thr)
18g.31524542T>GCA402135163DSG2n.616T>G
c.616T>G
c.785T>G (p.Ile262Ser)
c.251T>G (p.Ile84Ser)
18g.31524543T>ACA503599137DSG2n.617T>A
c.617T>A
c.786T>A (p.Ile262=)
c.252T>A (p.Ile84=)
18g.31524543T>CCA503599133DSG2n.617T>C
c.617T>C
c.786T>C (p.Ile262=)
c.252T>C (p.Ile84=)
18g.31524543T>GCA402135165DSG2n.617T>G
c.617T>G
c.786T>G (p.Ile262Met)
c.252T>G (p.Ile84Met)
18g.31524544T>ACA402135166DSG2n.618T>A
c.618T>A
c.787T>A (p.Leu263Met)
c.253T>A (p.Leu85Met)
18g.31524544T>CCA503599140DSG2n.618T>C
c.618T>C
c.787T>C (p.Leu263=)
c.253T>C (p.Leu85=)
18g.31524544T>GCA402135168DSG2n.618T>G
c.618T>G
c.787T>G (p.Leu263Val)
c.253T>G (p.Leu85Val)
18g.31524545T>ACA402135171DSG2n.619T>A
c.619T>A
c.788T>A (p.Leu263Ter)
c.254T>A (p.Leu85Ter)
dbSNP gnomAD v2 gnomAD v4
18g.31524545T>CCA402135173DSG2n.619T>C
c.619T>C
c.788T>C (p.Leu263Ser)
c.254T>C (p.Leu85Ser)
18g.31524545T>GCA402135169DSG2n.619T>G
c.619T>G
c.788T>G (p.Leu263Trp)
c.254T>G (p.Leu85Trp)
gnomAD v4
18g.31524545T=CA2293857034DSG2n.619T=
c.619T=
c.788T= (p.Leu263=)
c.254T= (p.Leu85=)
18g.31524546G>ACA503599146DSG2n.620G>A
c.620G>A
c.789G>A (p.Leu263=)
c.255G>A (p.Leu85=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524546G>CCA402135175DSG2n.620G>C
c.620G>C
c.789G>C (p.Leu263Phe)
c.255G>C (p.Leu85Phe)
18g.31524546G=CA2293857035DSG2n.620G=
c.620G=
c.789G= (p.Leu263=)
c.255G= (p.Leu85=)
18g.31524546G>TCA402135176DSG2n.620G>T
c.620G>T
c.789G>T (p.Leu263Phe)
c.255G>T (p.Leu85Phe)
18g.31524547G>ACA402135178DSG2n.621G>A
c.621G>A
c.790G>A (p.Asp264Asn)
c.256G>A (p.Asp86Asn)
gnomAD v4
18g.31524547G>CCA402135179DSG2n.621G>C
c.621G>C
c.790G>C (p.Asp264His)
c.256G>C (p.Asp86His)
18g.31524547G>TCA402135180DSG2n.621G>T
c.621G>T
c.790G>T (p.Asp264Tyr)
c.256G>T (p.Asp86Tyr)
18g.31524548A=CA2293857037DSG2n.622A=
c.622A=
c.791A= (p.Asp264=)
c.257A= (p.Asp86=)
18g.31524548A>CCA402135182DSG2n.622A>C
c.622A>C
c.791A>C (p.Asp264Ala)
c.257A>C (p.Asp86Ala)
18g.31524548A>GCA049904DSG2n.622A>G
c.622A>G
c.791A>G (p.Asp264Gly)
c.257A>G (p.Asp86Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524548A>TCA402135184DSG2n.622A>T
c.622A>T
c.791A>T (p.Asp264Val)
c.257A>T (p.Asp86Val)
18g.31524549T>ACA353890DSG2n.623T>A
c.623T>A
c.792T>A (p.Asp264Glu)
c.258T>A (p.Asp86Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524549T>CCA503599156DSG2n.623T>C
c.623T>C
c.792T>C (p.Asp264=)
c.258T>C (p.Asp86=)
18g.31524549T>GCA402135186DSG2n.623T>G
c.623T>G
c.792T>G (p.Asp264Glu)
c.258T>G (p.Asp86Glu)
18g.31524549T=CA2293857039DSG2n.623T=
c.623T=
c.792T= (p.Asp264=)
c.258T= (p.Asp86=)
18g.31524550G>ACA402135188DSG2n.624G>A
c.624G>A
c.793G>A (p.Val265Ile)
c.259G>A (p.Val87Ile)
18g.31524550G>CCA402135190DSG2n.624G>C
c.624G>C
c.793G>C (p.Val265Leu)
c.259G>C (p.Val87Leu)
18g.31524550G=CA2293857040DSG2n.624G=
c.624G=
c.793G= (p.Val265=)
c.259G= (p.Val87=)
18g.31524550G>TCA402135192DSG2n.624G>T
c.624G>T
c.793G>T (p.Val265Phe)
c.259G>T (p.Val87Phe)
dbSNP
18g.31524551T>ACA297731928DSG2n.625T>A
c.625T>A
c.794T>A (p.Val265Asp)
c.260T>A (p.Val87Asp)
ClinVar dbSNP
18g.31524551T>CCA402135195DSG2n.625T>C
c.625T>C
c.794T>C (p.Val265Ala)
c.260T>C (p.Val87Ala)
18g.31524551T>GCA402135193DSG2n.625T>G
c.625T>G
c.794T>G (p.Val265Gly)
c.260T>G (p.Val87Gly)
18g.31524551T=CA2293857042DSG2n.625T=
c.625T=
c.794T= (p.Val265=)
c.260T= (p.Val87=)
18g.31524552C>ACA503599166DSG2n.626C>A
c.626C>A
c.795C>A (p.Val265=)
c.261C>A (p.Val87=)
18g.31524552C=CA2293857044DSG2n.626C=
c.626C=
c.795C= (p.Val265=)
c.261C= (p.Val87=)
18g.31524552C>GCA049923DSG2n.626C>G
c.626C>G
c.795C>G (p.Val265=)
c.261C>G (p.Val87=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524552C>TCA503599169DSG2n.626C>T
c.626C>T
c.795C>T (p.Val265=)
c.261C>T (p.Val87=)
18g.31524553A>CCA402135198DSG2n.627A>C
c.627A>C
c.796A>C (p.Asn266His)
c.262A>C (p.Asn88His)
18g.31524553A>GCA402135200DSG2n.627A>G
c.627A>G
c.796A>G (p.Asn266Asp)
c.262A>G (p.Asn88Asp)
18g.31524553A>TCA402135201DSG2n.627A>T
c.627A>T
c.796A>T (p.Asn266Tyr)
c.262A>T (p.Asn88Tyr)
18g.31524554A=CA2293857047DSG2n.628A=
c.628A=
c.797A= (p.Asn266=)
c.263A= (p.Asn88=)
18g.31524554A>CCA402135203DSG2n.628A>C
c.628A>C
c.797A>C (p.Asn266Thr)
c.263A>C (p.Asn88Thr)
18g.31524554A>GCA022263DSG2n.628A>G
c.628A>G
c.797A>G (p.Asn266Ser)
c.263A>G (p.Asn88Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524554A>TCA402135204DSG2n.628A>T
c.628A>T
c.797A>T (p.Asn266Ile)
c.263A>T (p.Asn88Ile)
gnomAD v4
18g.31524555T>ACA402135206DSG2n.629T>A
c.629T>A
c.798T>A (p.Asn266Lys)
c.264T>A (p.Asn88Lys)
18g.31524555T>CCA503599170DSG2n.629T>C
c.629T>C
c.798T>C (p.Asn266=)
c.264T>C (p.Asn88=)
ClinVar dbSNP
18g.31524555T>GCA402135208DSG2n.629T>G
c.629T>G
c.798T>G (p.Asn266Lys)
c.264T>G (p.Asn88Lys)
18g.31524555T=CA2293857049DSG2n.629T=
c.629T=
c.798T= (p.Asn266=)
c.264T= (p.Asn88=)
18g.31524556G>ACA402135210DSG2n.630G>A
c.630G>A
c.799G>A (p.Asp267Asn)
c.265G>A (p.Asp89Asn)
18g.31524556G>CCA402135212DSG2n.630G>C
c.630G>C
c.799G>C (p.Asp267His)
c.265G>C (p.Asp89His)
18g.31524556G>TCA402135213DSG2n.630G>T
c.630G>T
c.799G>T (p.Asp267Tyr)
c.265G>T (p.Asp89Tyr)
18g.31524557A>CCA402135216DSG2n.631A>C
c.631A>C
c.800A>C (p.Asp267Ala)
c.266A>C (p.Asp89Ala)
18g.31524557A>GCA402135215DSG2n.631A>G
c.631A>G
c.800A>G (p.Asp267Gly)
c.266A>G (p.Asp89Gly)
ClinVar
18g.31524557A>TCA402135214DSG2n.631A>T
c.631A>T
c.800A>T (p.Asp267Val)
c.266A>T (p.Asp89Val)
18g.31524558C>ACA402135218DSG2n.632C>A
c.632C>A
c.801C>A (p.Asp267Glu)
c.267C>A (p.Asp89Glu)
18g.31524558C>GCA402135219DSG2n.632C>G
c.632C>G
c.801C>G (p.Asp267Glu)
c.267C>G (p.Asp89Glu)
18g.31524558C>TCA503599171DSG2n.632C>T
c.632C>T
c.801C>T (p.Asp267=)
c.267C>T (p.Asp89=)
gnomAD v4
18g.31524559A=CA2293857051DSG2n.633A=
c.633A=
c.802A= (p.Asn268=)
c.268A= (p.Asn90=)
18g.31524559A>CCA402135221DSG2n.633A>C
c.633A>C
c.802A>C (p.Asn268His)
c.268A>C (p.Asn90His)
gnomAD v4
18g.31524559A>GCA402135223DSG2n.633A>G
c.633A>G
c.802A>G (p.Asn268Asp)
c.268A>G (p.Asn90Asp)
gnomAD v4
18g.31524559A>TCA402135224DSG2n.633A>T
c.633A>T
c.802A>T (p.Asn268Tyr)
c.268A>T (p.Asn90Tyr)
18g.31524560A=CA2293857055DSG2n.634A=
c.634A=
c.803A= (p.Asn268=)
c.269A= (p.Asn90=)
18g.31524560A>CCA402135226DSG2n.634A>C
c.634A>C
c.803A>C (p.Asn268Thr)
c.269A>C (p.Asn90Thr)
18g.31524560A>GCA402135227DSG2n.634A>G
c.634A>G
c.803A>G (p.Asn268Ser)
c.269A>G (p.Asn90Ser)
18g.31524560A>TCA297731937DSG2n.634A>T
c.634A>T
c.803A>T (p.Asn268Ile)
c.269A>T (p.Asn90Ile)
ClinVar dbSNP gnomAD v4
18g.31524560_31524567dupCA1139666005DSG2n.634_641dup
c.634_641dup
c.803_810dup (p.Val271IlefsTer4)
c.269_276dup (p.Val93IlefsTer4)
ClinVar dbSNP gnomAD v4
18g.31524561T>ACA402135230DSG2n.635T>A
c.635T>A
c.804T>A (p.Asn268Lys)
c.270T>A (p.Asn90Lys)
18g.31524561T>CCA503599172DSG2n.635T>C
c.635T>C
c.804T>C (p.Asn268=)
c.270T>C (p.Asn90=)
18g.31524561T>GCA402135232DSG2n.635T>G
c.635T>G
c.804T>G (p.Asn268Lys)
c.270T>G (p.Asn90Lys)
18g.31524562A>CCA402135233DSG2n.636A>C
c.636A>C
c.805A>C (p.Ile269Leu)
c.271A>C (p.Ile91Leu)
18g.31524562A>GCA402135234DSG2n.636A>G
c.636A>G
c.805A>G (p.Ile269Val)
c.271A>G (p.Ile91Val)
18g.31524562A>TCA402135236DSG2n.636A>T
c.636A>T
c.805A>T (p.Ile269Leu)
c.271A>T (p.Ile91Leu)
18g.31524563T>ACA402135238DSG2n.637T>A
c.637T>A
c.806T>A (p.Ile269Lys)
c.272T>A (p.Ile91Lys)
18g.31524563T>CCA022269DSG2n.637T>C
c.637T>C
c.806T>C (p.Ile269Thr)
c.272T>C (p.Ile91Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524563T>GCA402135239DSG2n.637T>G
c.637T>G
c.806T>G (p.Ile269Arg)
c.272T>G (p.Ile91Arg)
18g.31524563T=CA2293857061DSG2n.637T=
c.637T=
c.806T= (p.Ile269=)
c.272T= (p.Ile91=)
18g.31524564A>CCA503599173DSG2n.638A>C
c.638A>C
c.807A>C (p.Ile269=)
c.273A>C (p.Ile91=)
18g.31524564A>GCA402135241DSG2n.638A>G
c.638A>G
c.807A>G (p.Ile269Met)
c.273A>G (p.Ile91Met)
18g.31524564A>TCA503599174DSG2n.638A>T
c.638A>T
c.807A>T (p.Ile269=)
c.273A>T (p.Ile91=)
18g.31524565C>ACA402135243DSG2n.639C>A
c.639C>A
c.808C>A (p.Pro270Thr)
c.274C>A (p.Pro92Thr)
ClinVar gnomAD v4
18g.31524565C=CA2293857065DSG2n.639C=
c.639C=
c.808C= (p.Pro270=)
c.274C= (p.Pro92=)
18g.31524565C>GCA402135245DSG2n.639C>G
c.639C>G
c.808C>G (p.Pro270Ala)
c.274C>G (p.Pro92Ala)
18g.31524565C>TCA402135246DSG2n.639C>T
c.639C>T
c.808C>T (p.Pro270Ser)
c.274C>T (p.Pro92Ser)
dbSNP gnomAD v2
18g.31524566C>ACA402135249DSG2n.640C>A
c.640C>A
c.809C>A (p.Pro270His)
c.275C>A (p.Pro92His)
18g.31524566C>GCA402135250DSG2n.640C>G
c.640C>G
c.809C>G (p.Pro270Arg)
c.275C>G (p.Pro92Arg)
18g.31524566C>TCA402135252DSG2n.640C>T
c.640C>T
c.809C>T (p.Pro270Leu)
c.275C>T (p.Pro92Leu)
18g.31524567T>ACA503599175DSG2n.641T>A
c.641T>A
c.810T>A (p.Pro270=)
c.276T>A (p.Pro92=)
18g.31524567T>CCA503599176DSG2n.641T>C
c.641T>C
c.810T>C (p.Pro270=)
c.276T>C (p.Pro92=)
18g.31524567T>GCA503599177DSG2n.641T>G
c.641T>G
c.810T>G (p.Pro270=)
c.276T>G (p.Pro92=)
18g.31524568G>ACA402135254DSG2n.642G>A
c.642G>A
c.811G>A (p.Val271Ile)
c.277G>A (p.Val93Ile)
gnomAD v4
18g.31524568G>CCA402135255DSG2n.642G>C
c.642G>C
c.811G>C (p.Val271Leu)
c.277G>C (p.Val93Leu)
18g.31524568G=CA2293857086DSG2n.642G=
c.642G=
c.811G= (p.Val271=)
c.277G= (p.Val93=)
18g.31524568G>TCA402135257DSG2n.642G>T
c.642G>T
c.811G>T (p.Val271Leu)
c.277G>T (p.Val93Leu)
18g.31524569T>ACA402135262DSG2n.643T>A
c.643T>A
c.812T>A (p.Val271Glu)
c.278T>A (p.Val93Glu)
gnomAD v4
18g.31524569T>CCA402135261DSG2n.643T>C
c.643T>C
c.812T>C (p.Val271Ala)
c.278T>C (p.Val93Ala)
18g.31524569T>GCA402135259DSG2n.643T>G
c.643T>G
c.812T>G (p.Val271Gly)
c.278T>G (p.Val93Gly)
18g.31524569T=CA2293857089DSG2n.643T=
c.643T=
c.812T= (p.Val271=)
c.278T= (p.Val93=)
18g.31524569_31524570insCATCA2293857092DSG2n.643_644insCAT
c.643_644insCAT
c.812_813insCAT (p.Val271_Val272insIle)
c.278_279insCAT (p.Val93_Val94insIle)
ClinVar dbSNP
18g.31524569_31524570delinsTACA2293857090DSG2n.643_644delinsTA
c.643_644delinsTA
c.812_813delinsTA (p.Val271=)
c.278_279delinsTA (p.Val93=)
18g.31524569_31524570insCCA050007DSG2n.643_644insC
c.643_644insC
c.812_813insC (p.Val272SerfsTer4)
c.278_279insC (p.Val94SerfsTer4)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524570A=CA2293857105DSG2n.644A=
c.644A=
c.813A= (p.Val271=)
c.279A= (p.Val93=)
18g.31524570A>CCA503599179DSG2n.644A>C
c.644A>C
c.813A>C (p.Val271=)
c.279A>C (p.Val93=)
18g.31524570A>GCA050019DSG2n.644A>G
c.644A>G
c.813A>G (p.Val271=)
c.279A>G (p.Val93=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524570A>TCA503599178DSG2n.644A>T
c.644A>T
c.813A>T (p.Val271=)
c.279A>T (p.Val93=)
ClinVar dbSNP
18g.31524570delinsCATTCA1139666006DSG2n.644delinsCATT
c.644delinsCATT
c.813delinsCATT (p.Val271_Val272insIle)
c.279delinsCATT (p.Val93_Val94insIle)
ClinVar dbSNP
18g.31524570_31524571insTTCA8928345DSG2n.644_645insTT
c.644_645insTT
c.813_814insTT (p.Val272LeufsTer2)
c.279_280insTT (p.Val94LeufsTer2)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524570_31524571insTTGCA629148134DSG2n.644_645insTTG
c.644_645insTTG
c.813_814insTTG (p.Val271_Val272insLeu)
c.279_280insTTG (p.Val93_Val94insLeu)
dbSNP gnomAD v2 gnomAD v4
18g.31524571G>ACA402135268DSG2n.645G>A
c.645G>A
c.814G>A (p.Val272Ile)
c.280G>A (p.Val94Ile)
18g.31524571G>CCA402135270DSG2n.645G>C
c.645G>C
c.814G>C (p.Val272Leu)
c.280G>C (p.Val94Leu)
18g.31524571G>TCA402135266DSG2n.645G>T
c.645G>T
c.814G>T (p.Val272Leu)
c.280G>T (p.Val94Leu)
18g.31524572T>ACA402135272DSG2n.646T>A
c.646T>A
c.815T>A (p.Val272Glu)
c.281T>A (p.Val94Glu)
18g.31524572T>CCA402135273DSG2n.646T>C
c.646T>C
c.815T>C (p.Val272Ala)
c.281T>C (p.Val94Ala)
18g.31524572T>GCA402135275DSG2n.646T>G
c.646T>G
c.815T>G (p.Val272Gly)
c.281T>G (p.Val94Gly)
18g.31524573A=CA2293857117DSG2n.647A=
c.647A=
c.816A= (p.Val272=)
c.282A= (p.Val94=)
18g.31524573A>CCA503599180DSG2n.647A>C
c.647A>C
c.816A>C (p.Val272=)
c.282A>C (p.Val94=)
18g.31524573A>GCA503599181DSG2n.647A>G
c.647A>G
c.816A>G (p.Val272=)
c.282A>G (p.Val94=)
ClinVar
18g.31524573A>TCA503599182DSG2n.647A>T
c.647A>T
c.816A>T (p.Val272=)
c.282A>T (p.Val94=)
18g.31524573_31524574insTATTGCA629148135DSG2n.647_648insTATTG
c.647_648insTATTG
c.816_817insTATTG (p.Glu273TyrfsTer18)
c.282_283insTATTG (p.Glu95TyrfsTer18)
dbSNP gnomAD v2 gnomAD v4
18g.31524574G>ACA402135277DSG2n.648G>A
c.648G>A
c.817G>A (p.Glu273Lys)
c.283G>A (p.Glu95Lys)
18g.31524574G>CCA402135278DSG2n.648G>C
c.648G>C
c.817G>C (p.Glu273Gln)
c.283G>C (p.Glu95Gln)
18g.31524574G>TCA402135280DSG2n.648G>T
c.648G>T
c.817G>T (p.Glu273Ter)
c.283G>T (p.Glu95Ter)
18g.31524574_31524576delinsGAACA2293857122DSG2n.648_650delinsGAA
c.648_650delinsGAA
c.817_819delinsGAA (p.Glu273=)
c.283_285delinsGAA (p.Glu95=)
18g.31524575A=CA2293857127DSG2n.649A=
c.649A=
c.818A= (p.Glu273=)
c.284A= (p.Glu95=)
18g.31524575A>CCA402135282DSG2n.649A>C
c.649A>C
c.818A>C (p.Glu273Ala)
c.284A>C (p.Glu95Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524575A>GCA402135284DSG2n.649A>G
c.649A>G
c.818A>G (p.Glu273Gly)
c.284A>G (p.Glu95Gly)
dbSNP gnomAD v2 gnomAD v4
18g.31524575A>TCA402135285DSG2n.649A>T
c.649A>T
c.818A>T (p.Glu273Val)
c.284A>T (p.Glu95Val)
18g.31524577_31524578delCA629148136DSG2n.651_652del
c.651_652del
c.820_821del (p.Asn274Ter)
c.286_287del (p.Asn96Ter)
dbSNP gnomAD v2 gnomAD v4
18g.31524576A>CCA402135286DSG2n.650A>C
c.650A>C
c.819A>C (p.Glu273Asp)
c.285A>C (p.Glu95Asp)
18g.31524576A>GCA503599183DSG2n.650A>G
c.650A>G
c.819A>G (p.Glu273=)
c.285A>G (p.Glu95=)
18g.31524576A>TCA402135288DSG2n.650A>T
c.650A>T
c.819A>T (p.Glu273Asp)
c.285A>T (p.Glu95Asp)
18g.31524577A=CA2293857130DSG2n.651A=
c.651A=
c.820A= (p.Asn274=)
c.286A= (p.Asn96=)
18g.31524577A>CCA402135291DSG2n.651A>C
c.651A>C
c.820A>C (p.Asn274His)
c.286A>C (p.Asn96His)
18g.31524577A>GCA050064DSG2n.651A>G
c.651A>G
c.820A>G (p.Asn274Asp)
c.286A>G (p.Asn96Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524577A>TCA402135289DSG2n.651A>T
c.651A>T
c.820A>T (p.Asn274Tyr)
c.286A>T (p.Asn96Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524578A>CCA402135292DSG2n.652A>C
c.652A>C
c.821A>C (p.Asn274Thr)
c.287A>C (p.Asn96Thr)
18g.31524578A>GCA402135293DSG2n.652A>G
c.652A>G
c.821A>G (p.Asn274Ser)
c.287A>G (p.Asn96Ser)
18g.31524578A>TCA402135295DSG2n.652A>T
c.652A>T
c.821A>T (p.Asn274Ile)
c.287A>T (p.Asn96Ile)
18g.31524579T>ACA402135297DSG2n.653T>A
c.653T>A
c.822T>A (p.Asn274Lys)
c.288T>A (p.Asn96Lys)
18g.31524579T>CCA503599184DSG2n.653T>C
c.653T>C
c.822T>C (p.Asn274=)
c.288T>C (p.Asn96=)
18g.31524579T>GCA402135299DSG2n.653T>G
c.653T>G
c.822T>G (p.Asn274Lys)
c.288T>G (p.Asn96Lys)
18g.31524580A>CCA402135300DSG2n.654A>C
c.654A>C
c.823A>C (p.Lys275Gln)
c.289A>C (p.Lys97Gln)
COSMIC
18g.31524580A>GCA402135302DSG2n.654A>G
c.654A>G
c.823A>G (p.Lys275Glu)
c.289A>G (p.Lys97Glu)
gnomAD v4
18g.31524580A>TCA402135304DSG2n.654A>T
c.654A>T
c.823A>T (p.Lys275Ter)
c.289A>T (p.Lys97Ter)
18g.31524581A>CCA402135306DSG2n.655A>C
c.655A>C
c.824A>C (p.Lys275Thr)
c.290A>C (p.Lys97Thr)
18g.31524581A>GCA402135307DSG2n.655A>G
c.655A>G
c.824A>G (p.Lys275Arg)
c.290A>G (p.Lys97Arg)
18g.31524581A>TCA402135309DSG2n.655A>T
c.655A>T
c.824A>T (p.Lys275Ile)
c.290A>T (p.Lys97Ile)
18g.31524582A>CCA402135312DSG2n.656A>C
c.656A>C
c.825A>C (p.Lys275Asn)
c.291A>C (p.Lys97Asn)
18g.31524582A>GCA503599185DSG2n.656A>G
c.656A>G
c.825A>G (p.Lys275=)
c.291A>G (p.Lys97=)
gnomAD v4
18g.31524582A>TCA402135311DSG2n.656A>T
c.656A>T
c.825A>T (p.Lys275Asn)
c.291A>T (p.Lys97Asn)
18g.31524582_31524585delinsAGTGCA2293857133DSG2n.656_659delinsAGTG
c.656_659delinsAGTG
c.825_828delinsAGTG (p.Lys275=)
c.291_294delinsAGTG (p.Lys97=)
18g.31524583G>ACA402135313DSG2n.657G>A
c.657G>A
c.826G>A (p.Val276Met)
c.292G>A (p.Val98Met)
18g.31524583G>CCA402135315DSG2n.657G>C
c.657G>C
c.826G>C (p.Val276Leu)
c.292G>C (p.Val98Leu)
18g.31524583G>TCA402135316DSG2n.657G>T
c.657G>T
c.826G>T (p.Val276Leu)
c.292G>T (p.Val98Leu)
18g.31524585_31524587delCA050140DSG2n.659_659+2del
c.659_659+2del
c.828_828+2del
c.294_294+2del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524584T>ACA402135320DSG2n.658T>A
c.658T>A
c.827T>A (p.Val276Glu)
c.293T>A (p.Val98Glu)
18g.31524584T>CCA402135321DSG2n.658T>C
c.658T>C
c.827T>C (p.Val276Ala)
c.293T>C (p.Val98Ala)
18g.31524584T>GCA402135322DSG2n.658T>G
c.658T>G
c.827T>G (p.Val276Gly)
c.293T>G (p.Val98Gly)
18g.31524585G>ACA503599186DSG2n.659G>A
c.659G>A
c.828G>A (p.Val276=)
c.294G>A (p.Val98=)
18g.31524585G>CCA503599187DSG2n.659G>C
c.659G>C
c.828G>C (p.Val276=)
c.294G>C (p.Val98=)
18g.31524585G>TCA503599188DSG2n.659G>T
c.659G>T
c.828G>T (p.Val276=)
c.294G>T (p.Val98=)
18g.31524586G>ACA402135324DSG2n.659+1G>A
c.659+1G>A
c.828+1G>A (n.828+1G>A)
c.294+1G>A (n.294+1G>A)
18g.31524586G>CCA402135326DSG2n.659+1G>C
c.659+1G>C
c.828+1G>C (n.828+1G>C)
c.294+1G>C (n.294+1G>C)
18g.31524586G>TCA402135328DSG2n.659+1G>T
c.659+1G>T
c.828+1G>T (n.828+1G>T)
c.294+1G>T (n.294+1G>T)
18g.31524587T>ACA402135329DSG2n.659+2T>A
c.659+2T>A
c.828+2T>A (n.828+2T>A)
c.294+2T>A (n.294+2T>A)
18g.31524587T>CCA402135331DSG2n.659+2T>C
c.659+2T>C
c.828+2T>C (n.828+2T>C)
c.294+2T>C (n.294+2T>C)
18g.31524587T>GCA402135333DSG2n.659+2T>G
c.659+2T>G
c.828+2T>G (n.828+2T>G)
c.294+2T>G (n.294+2T>G)
18g.31524590C=CA2293857140DSG2n.659+5C=
c.659+5C=
c.828+5C= (n.828+5C=)
c.294+5C= (n.294+5C=)
18g.31524590C>TCA050171DSG2n.659+5C>T
c.659+5C>T
c.828+5C>T (n.828+5C>T)
c.294+5C>T (n.294+5C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524590_31524593delinsCTATCA2293857142DSG2n.659+5_659+8delinsCTAT
c.659+5_659+8delinsCTAT
c.828+5_828+8delinsCTAT (n.828+5_828+8delinsCTAT)
c.294+5_294+8delinsCTAT (n.294+5_294+8delinsCTAT)
18g.31524595_31524597delCA629148137DSG2n.659+10_659+12del
c.659+10_659+12del
c.828+10_828+12del (n.828+10_828+12del)
c.294+10_294+12del (n.294+10_294+12del)
dbSNP gnomAD v2 gnomAD v4
18g.31524592A=CA2293857146DSG2n.659+7A=
c.659+7A=
c.828+7A= (n.828+7A=)
c.294+7A= (n.294+7A=)
18g.31524592A>GCA629148138DSG2n.659+7A>G
c.659+7A>G
c.828+7A>G (n.828+7A>G)
c.294+7A>G (n.294+7A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524593T>CCA2641406211DSG2n.659+8T>C
c.659+8T>C
c.828+8T>C (n.828+8T>C)
c.294+8T>C (n.294+8T>C)
gnomAD v4
18g.31524593_31524594insACCCA2576480507DSG2n.659+8_659+9insACC
c.659+8_659+9insACC
c.828+8_828+9insACC (n.828+8_828+9insACC)
c.294+8_294+9insACC (n.294+8_294+9insACC)
18g.31524595A=CA2293857152DSG2n.659+10A=
c.659+10A=
c.828+10A= (n.828+10A=)
c.294+10A= (n.294+10A=)
18g.31524595A>CCA10641361DSG2n.659+10A>C
c.659+10A>C
c.828+10A>C (n.828+10A>C)
c.294+10A>C (n.294+10A>C)
ClinVar dbSNP
18g.31524595A>GCA2576480508DSG2n.659+10A>G
c.659+10A>G
c.828+10A>G (n.828+10A>G)
c.294+10A>G (n.294+10A>G)
18g.31524595_31524601delinsATTCTTCCA2293857150DSG2n.659+10_659+16delinsATTCTTC
c.659+10_659+16delinsATTCTTC
c.828+10_828+16delinsATTCTTC (n.828+10_828+16delinsATTCTTC)
c.294+10_294+16delinsATTCTTC (n.294+10_294+16delinsATTCTTC)
18g.31524596T>CCA050148DSG2n.659+11T>C
c.659+11T>C
c.828+11T>C (n.828+11T>C)
c.294+11T>C (n.294+11T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524596T>GCA2641406212DSG2n.659+11T>G
c.659+11T>G
c.828+11T>G (n.828+11T>G)
c.294+11T>G (n.294+11T>G)
gnomAD v4
18g.31524596T=CA2293857154DSG2n.659+11T=
c.659+11T=
c.828+11T= (n.828+11T=)
c.294+11T= (n.294+11T=)
18g.31524597dupCA2576480509DSG2n.659+12dup
c.659+12dup
c.828+12dup (n.828+12dup)
c.294+12dup (n.294+12dup)
18g.31524597_31524602delCA778437048DSG2n.659+12_659+17del
c.659+12_659+17del
c.828+12_828+17del (n.828+12_828+17del)
c.294+12_294+17del (n.294+12_294+17del)
dbSNP gnomAD v3 gnomAD v4
18g.31524597T>CCA2641406213DSG2n.659+12T>C
c.659+12T>C
c.828+12T>C (n.828+12T>C)
c.294+12T>C (n.294+12T>C)
gnomAD v4
18g.31524598C>ACA297731970DSG2n.659+13C>A
c.659+13C>A
c.828+13C>A (n.828+13C>A)
c.294+13C>A (n.294+13C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524598C=CA2293857159DSG2n.659+13C=
c.659+13C=
c.828+13C= (n.828+13C=)
c.294+13C= (n.294+13C=)
18g.31524598C>TCA16607923DSG2n.659+13C>T
c.659+13C>T
c.828+13C>T (n.828+13C>T)
c.294+13C>T (n.294+13C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524599T>ACA2293857163DSG2n.659+14T>A
c.659+14T>A
c.828+14T>A (n.828+14T>A)
c.294+14T>A (n.294+14T>A)
dbSNP
18g.31524599T>CCA2293857164DSG2n.659+14T>C
c.659+14T>C
c.828+14T>C (n.828+14T>C)
c.294+14T>C (n.294+14T>C)
ClinVar dbSNP
18g.31524599T=CA2293857162DSG2n.659+14T=
c.659+14T=
c.828+14T= (n.828+14T=)
c.294+14T= (n.294+14T=)
18g.31524601C>ACA050154DSG2n.659+16C>A
c.659+16C>A
c.828+16C>A (n.828+16C>A)
c.294+16C>A (n.294+16C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524601C=CA2293857167DSG2n.659+16C=
c.659+16C=
c.828+16C= (n.828+16C=)
c.294+16C= (n.294+16C=)
18g.31524601C>GCA2576480510DSG2n.659+16C>G
c.659+16C>G
c.828+16C>G (n.828+16C>G)
c.294+16C>G (n.294+16C>G)
ClinVar
18g.31524601C>TCA2581341668DSG2n.659+16C>T
c.659+16C>T
c.828+16C>T (n.828+16C>T)
c.294+16C>T (n.294+16C>T)
gnomAD v4
18g.31524601_31524604delinsCTAACA2293857170DSG2n.659+16_659+19delinsCTAA
c.659+16_659+19delinsCTAA
c.828+16_828+19delinsCTAA (n.828+16_828+19delinsCTAA)
c.294+16_294+19delinsCTAA (n.294+16_294+19delinsCTAA)
18g.31524605_31524607delCA629148139DSG2n.659+20_659+22del
c.659+20_659+22del
c.828+20_828+22del (n.828+20_828+22del)
c.294+20_294+22del (n.294+20_294+22del)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524603A>GCA2812000634DSG2n.659+18A>G
c.659+18A>G
c.828+18A>G (n.828+18A>G)
c.294+18A>G (n.294+18A>G)
18g.31524604A>CCA2641406215DSG2n.659+19A>C
c.659+19A>C
c.828+19A>C (n.828+19A>C)
c.294+19A>C (n.294+19A>C)
gnomAD v4
18g.31524605_31524606delCA2641406214DSG2n.659+20_659+21del
c.659+20_659+21del
c.828+20_828+21del (n.828+20_828+21del)
c.294+20_294+21del (n.294+20_294+21del)
ClinVar gnomAD v4
18g.31524607A>CCA2576480511DSG2n.659+22A>C
c.659+22A>C
c.828+22A>C (n.828+22A>C)
c.294+22A>C (n.294+22A>C)
18g.31524609T>CCA2293857174DSG2n.659+24T>C
c.659+24T>C
c.828+24T>C (n.828+24T>C)
c.294+24T>C (n.294+24T>C)
dbSNP gnomAD v4
18g.31524609T=CA2293857175DSG2n.659+24T=
c.659+24T=
c.828+24T= (n.828+24T=)
c.294+24T= (n.294+24T=)
18g.31524610G>CCA2641406216DSG2n.659+25G>C
c.659+25G>C
c.828+25G>C (n.828+25G>C)
c.294+25G>C (n.294+25G>C)
gnomAD v4
18g.31524610_31524614delinsGTACCCA2293857177DSG2n.659+25_659+29delinsGTACC
c.659+25_659+29delinsGTACC
c.828+25_828+29delinsGTACC (n.828+25_828+29delinsGTACC)
c.294+25_294+29delinsGTACC (n.294+25_294+29delinsGTACC)
18g.31524611T>GCA629148140DSG2n.659+26T>G
c.659+26T>G
c.828+26T>G (n.828+26T>G)
c.294+26T>G (n.294+26T>G)
dbSNP gnomAD v2 gnomAD v4
18g.31524611T=CA2293857180DSG2n.659+26T=
c.659+26T=
c.828+26T= (n.828+26T=)
c.294+26T= (n.294+26T=)
18g.31524613_31524616delCA2293857181DSG2n.659+28_659+31del
c.659+28_659+31del
c.828+28_828+31del (n.828+28_828+31del)
c.294+28_294+31del (n.294+28_294+31del)
dbSNP
18g.31524614C>TCA629148141DSG2n.659+29C>T
c.659+29C>T
c.828+29C>T (n.828+29C>T)
c.294+29C>T (n.294+29C>T)
gnomAD v2
18g.31524614_31524618delinsCTATTCA2293857183DSG2n.659+29_659+33delinsCTATT
c.659+29_659+33delinsCTATT
c.828+29_828+33delinsCTATT (n.828+29_828+33delinsCTATT)
c.294+29_294+33delinsCTATT (n.294+29_294+33delinsCTATT)
18g.31524622_31524625delCA629148142DSG2n.659+37_659+40del
c.659+37_659+40del
c.828+37_828+40del (n.828+37_828+40del)
c.294+37_294+40del (n.294+37_294+40del)
dbSNP gnomAD v2 gnomAD v4
18g.31524616A=CA2293857185DSG2n.659+31A=
c.659+31A=
c.828+31A= (n.828+31A=)
c.294+31A= (n.294+31A=)
18g.31524616A>GCA629148143DSG2n.659+31A>G
c.659+31A>G
c.828+31A>G (n.828+31A>G)
c.294+31A>G (n.294+31A>G)
dbSNP gnomAD v2 gnomAD v4
18g.31524617T>CCA629148144DSG2n.659+32T>C
c.659+32T>C
c.828+32T>C (n.828+32T>C)
c.294+32T>C (n.294+32T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524617T=CA2293857187DSG2n.659+32T=
c.659+32T=
c.828+32T= (n.828+32T=)
c.294+32T= (n.294+32T=)
18g.31524623T>CCA2641406217DSG2n.659+38T>C
c.659+38T>C
c.828+38T>C (n.828+38T>C)
c.294+38T>C (n.294+38T>C)
gnomAD v4
18g.31524626A=CA2293857188DSG2n.659+41A=
c.659+41A=
c.828+41A= (n.828+41A=)
c.294+41A= (n.294+41A=)
18g.31524626A>GCA2293857189DSG2n.659+41A>G
c.659+41A>G
c.828+41A>G (n.828+41A>G)
c.294+41A>G (n.294+41A>G)
dbSNP gnomAD v4
18g.31524628T>CCA2576480512DSG2n.659+43T>C
c.659+43T>C
c.828+43T>C (n.828+43T>C)
c.294+43T>C (n.294+43T>C)
18g.31524630C>TCA2734853171DSG2n.659+45C>T
c.659+45C>T
c.828+45C>T (n.828+45C>T)
c.294+45C>T (n.294+45C>T)
dbSNP
18g.31524632G>CCA2741576437DSG2n.659+47G>C
c.659+47G>C
c.828+47G>C (n.828+47G>C)
c.294+47G>C (n.294+47G>C)
18g.31524632G=CA2293857192DSG2n.659+47G=
c.659+47G=
c.828+47G= (n.828+47G=)
c.294+47G= (n.294+47G=)
18g.31524632G>TCA629148145DSG2n.659+47G>T
c.659+47G>T
c.828+47G>T (n.828+47G>T)
c.294+47G>T (n.294+47G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched