Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.7582933_7587670delinsAGAACAGTCTTCA2580075482 ClinVar
6g.7582933_7587670delinsAGAGAAGAACAGTCTTCA915944145 ClinVar
6g.7582934_7587655delCA2695202641
6g.7583301_7585800delCA006686DSPc.4710_7209del (p.Gly1571GlufsTer?)
c.6039_8538del (p.Gly2014GlufsTer?)
c.4242_6741del (p.Gly1415GlufsTer?)
6g.7585725_7585737dupCA2578524532DSPc.7134_7146dup (p.Arg2383GlyfsTer30)
c.8463_8475dup (p.Arg2826GlyfsTer30)
c.6666_6678dup (p.Arg2227GlyfsTer30)
6g.7585731_7585749delCA2573140825DSPc.7140_7158del (p.Gly2381AlafsTer?)
c.8469_8487del (p.Gly2824AlafsTer?)
c.6672_6690del (p.Gly2225AlafsTer?)
 ClinVar dbSNP gnomAD v4
6g.7585725_7585738delinsGGCTCCGGGGTCCCCA1608615430DSPc.7134_7147delinsGGCTCCGGGGTCCC (p.Ser2378=)
c.8463_8476delinsGGCTCCGGGGTCCC (p.Ser2821=)
c.6666_6679delinsGGCTCCGGGGTCCC (p.Ser2222=)
6g.7585733_7585745delCA1608615432DSPc.7142_7154del (p.Gly2381AlafsTer?)
c.8471_8483del (p.Gly2824AlafsTer?)
c.6674_6686del (p.Gly2225AlafsTer?)
 ClinVar dbSNP gnomAD v4
6g.7585727C>ACA362695206DSPc.7136C>A (p.Ala2379Asp)
c.8465C>A (p.Ala2822Asp)
c.6668C>A (p.Ala2223Asp)
6g.7585727C>GCA362695207DSPc.7136C>G (p.Ala2379Gly)
c.8465C>G (p.Ala2822Gly)
c.6668C>G (p.Ala2223Gly)
6g.7585727C>TCA362695208DSPc.7136C>T (p.Ala2379Val)
c.8465C>T (p.Ala2822Val)
c.6668C>T (p.Ala2223Val)
6g.7585728T>ACA448717218DSPc.7137T>A (p.Ala2379=)
c.8466T>A (p.Ala2822=)
c.6669T>A (p.Ala2223=)
6g.7585728T>CCA133978030DSPc.7137T>C (p.Ala2379=)
c.8466T>C (p.Ala2822=)
c.6669T>C (p.Ala2223=)
 ClinVar dbSNP
6g.7585728T>GCA448717219DSPc.7137T>G (p.Ala2379=)
c.8466T>G (p.Ala2822=)
c.6669T>G (p.Ala2223=)
6g.7585728T=CA1608615439DSPc.7137T= (p.Ala2379=)
c.8466T= (p.Ala2822=)
c.6669T= (p.Ala2223=)
6g.7585729C>ACA362695209DSPc.7138C>A (p.Pro2380Thr)
c.8467C>A (p.Pro2823Thr)
c.6670C>A (p.Pro2224Thr)
6g.7585729C=CA1608615443DSPc.7138C= (p.Pro2380=)
c.8467C= (p.Pro2823=)
c.6670C= (p.Pro2224=)
6g.7585729C>GCA007575DSPc.7138C>G (p.Pro2380Ala)
c.8467C>G (p.Pro2823Ala)
c.6670C>G (p.Pro2224Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585729C>TCA362695210DSPc.7138C>T (p.Pro2380Ser)
c.8467C>T (p.Pro2823Ser)
c.6670C>T (p.Pro2224Ser)
 dbSNP
6g.7585729_7585753delinsCCGGGGTCCCGCTCCGGCTCCCGCTCA1608615447DSPc.7138_7162delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2380=)
c.8467_8491delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2823=)
c.6670_6694delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2224=)
6g.7585730C>ACA362695211DSPc.7139C>A (p.Pro2380Gln)
c.8468C>A (p.Pro2823Gln)
c.6671C>A (p.Pro2224Gln)
 COSMIC
6g.7585730C=CA1608615462DSPc.7139C= (p.Pro2380=)
c.8468C= (p.Pro2823=)
c.6671C= (p.Pro2224=)
6g.7585730C>GCA362695212DSPc.7139C>G (p.Pro2380Arg)
c.8468C>G (p.Pro2823Arg)
c.6671C>G (p.Pro2224Arg)
6g.7585730C>TCA362695213DSPc.7139C>T (p.Pro2380Leu)
c.8468C>T (p.Pro2823Leu)
c.6671C>T (p.Pro2224Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585731_7585742dupCA565358229DSPc.7140_7151dup (p.Ser2384_Gly2385insGlySerArgSer)
c.8469_8480dup (p.Ser2827_Gly2828insGlySerArgSer)
c.6672_6683dup (p.Ser2228_Gly2229insGlySerArgSer)
 dbSNP gnomAD v2 gnomAD v4
6g.7585734_7585757delCA565358228DSPc.7143_7166del (p.Ser2382_Gly2389del)
c.8472_8495del (p.Ser2825_Gly2832del)
c.6675_6698del (p.Ser2226_Gly2233del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585731G>ACA448717221DSPc.7140G>A (p.Pro2380=)
c.8469G>A (p.Pro2823=)
c.6672G>A (p.Pro2224=)
 ClinVar dbSNP
6g.7585731G>CCA448717222DSPc.7140G>C (p.Pro2380=)
c.8469G>C (p.Pro2823=)
c.6672G>C (p.Pro2224=)
6g.7585731G=CA1608615481DSPc.7140G= (p.Pro2380=)
c.8469G= (p.Pro2823=)
c.6672G= (p.Pro2224=)
6g.7585731G>TCA448717223DSPc.7140G>T (p.Pro2380=)
c.8469G>T (p.Pro2823=)
c.6672G>T (p.Pro2224=)
 gnomAD v4
6g.7585731_7585732delinsAACA645552064DSPc.7140_7141delinsAA (p.Gly2381Arg)
c.8469_8470delinsAA (p.Gly2824Arg)
c.6672_6673delinsAA (p.Gly2225Arg)
 COSMIC
6g.7585731_7585743delinsGGGGTCCCGCTCCCA1608615477DSPc.7140_7152delinsGGGGTCCCGCTCC (p.Pro2380=)
c.8469_8481delinsGGGGTCCCGCTCC (p.Pro2823=)
c.6672_6684delinsGGGGTCCCGCTCC (p.Pro2224=)
6g.7585732G>ACA362695215DSPc.7141G>A (p.Gly2381Arg)
c.8470G>A (p.Gly2824Arg)
c.6673G>A (p.Gly2225Arg)
6g.7585732G>CCA362695214DSPc.7141G>C (p.Gly2381Arg)
c.8470G>C (p.Gly2824Arg)
c.6673G>C (p.Gly2225Arg)
6g.7585732G>TCA362695216DSPc.7141G>T (p.Gly2381Trp)
c.8470G>T (p.Gly2824Trp)
c.6673G>T (p.Gly2225Trp)
6g.7585732_7585738delinsGGGTCCCCA1608615490DSPc.7141_7147delinsGGGTCCC (p.Gly2381=)
c.8470_8476delinsGGGTCCC (p.Gly2824=)
c.6673_6679delinsGGGTCCC (p.Gly2225=)
6g.7585734_7585745delCA007583DSPc.7143_7154del (p.Ser2382_Gly2385del)
c.8472_8483del (p.Ser2825_Gly2828del)
c.6675_6686del (p.Ser2226_Gly2229del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585733G>ACA362695217DSPc.7142G>A (p.Gly2381Glu)
c.8471G>A (p.Gly2824Glu)
c.6674G>A (p.Gly2225Glu)
6g.7585733G>CCA362695218DSPc.7142G>C (p.Gly2381Ala)
c.8471G>C (p.Gly2824Ala)
c.6674G>C (p.Gly2225Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585733G=CA1608615499DSPc.7142G= (p.Gly2381=)
c.8471G= (p.Gly2824=)
c.6674G= (p.Gly2225=)
6g.7585733G>TCA362695219DSPc.7142G>T (p.Gly2381Val)
c.8471G>T (p.Gly2824Val)
c.6674G>T (p.Gly2225Val)
6g.7585733_7585735delinsGGTCA1608615495DSPc.7142_7144delinsGGT (p.Gly2381=)
c.8471_8473delinsGGT (p.Gly2824=)
c.6674_6676delinsGGT (p.Gly2225=)
6g.7585734_7585739delCA1085707195DSPc.7143_7148del (p.Ser2382_Arg2383del)
c.8472_8477del (p.Ser2825_Arg2826del)
c.6675_6680del (p.Ser2226_Arg2227del)
 dbSNP gnomAD v3 gnomAD v4
6g.7585733_7585734insCTCCCCA3628103DSPc.7142_7143insCTCCC (p.Ser2384ProfsTer?)
c.8471_8472insCTCCC (p.Ser2827ProfsTer?)
c.6674_6675insCTCCC (p.Ser2228ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585734G>ACA448717225DSPc.7143G>A (p.Gly2381=)
c.8472G>A (p.Gly2824=)
c.6675G>A (p.Gly2225=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7585734G>CCA007601DSPc.7143G>C (p.Gly2381=)
c.8472G>C (p.Gly2824=)
c.6675G>C (p.Gly2225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585734G=CA180735DSPc.7143G= (p.Gly2381=)
c.8472G= (p.Gly2824=)
c.6675G= (p.Gly2225=)
6g.7585734G>TCA448717226DSPc.7143G>T (p.Gly2381=)
c.8472G>T (p.Gly2824=)
c.6675G>T (p.Gly2225=)
 dbSNP
6g.7585734_7585735delCA3628102DSPc.7143_7144del (p.Ser2382ProfsTer26)
c.8472_8473del (p.Ser2825ProfsTer26)
c.6675_6676del (p.Ser2226ProfsTer26)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585734_7585746delinsGTCCCGCTCCGGCCA1608615508DSPc.7143_7155delinsGTCCCGCTCCGGC (p.Gly2381=)
c.8472_8484delinsGTCCCGCTCCGGC (p.Gly2824=)
c.6675_6687delinsGTCCCGCTCCGGC (p.Gly2225=)
6g.7585734_7585735insGTCA133978062DSPc.7143_7144insGT (p.Ser2382ValfsTer?)
c.8472_8473insGT (p.Ser2825ValfsTer?)
c.6675_6676insGT (p.Ser2226ValfsTer?)
6g.7585734_7585735insCTCCGGCCA052414DSPc.7143_7144insCTCCGGC (p.Ser2382LeufsTer29)
c.8472_8473insCTCCGGC (p.Ser2825LeufsTer29)
c.6675_6676insCTCCGGC (p.Ser2226LeufsTer29)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585734_7585735insCTCCGGCTCCCGCTCGGGCCA565358230DSPc.7143_7144insCTCCGGCTCCCGCTCGGGC (p.Ser2382LeufsTer33)
c.8472_8473insCTCCGGCTCCCGCTCGGGC (p.Ser2825LeufsTer33)
c.6675_6676insCTCCGGCTCCCGCTCGGGC (p.Ser2226LeufsTer33)
 dbSNP gnomAD v2 gnomAD v4
6g.7585735T>ACA362695222DSPc.7144T>A (p.Ser2382Thr)
c.8473T>A (p.Ser2825Thr)
c.6676T>A (p.Ser2226Thr)
 dbSNP gnomAD v4
6g.7585735T>CCA362695221DSPc.7144T>C (p.Ser2382Pro)
c.8473T>C (p.Ser2825Pro)
c.6676T>C (p.Ser2226Pro)
6g.7585735T>GCA362695220DSPc.7144T>G (p.Ser2382Ala)
c.8473T>G (p.Ser2825Ala)
c.6676T>G (p.Ser2226Ala)
6g.7585735T=CA1608615523DSPc.7144T= (p.Ser2382=)
c.8473T= (p.Ser2825=)
c.6676T= (p.Ser2226=)
6g.7585743_7585754delCA007617DSPc.7152_7163del (p.Gly2385_Ser2388del)
c.8481_8492del (p.Gly2828_Ser2831del)
c.6684_6695del (p.Gly2229_Ser2232del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585736C>ACA362695223DSPc.7145C>A (p.Ser2382Tyr)
c.8474C>A (p.Ser2825Tyr)
c.6677C>A (p.Ser2226Tyr)
6g.7585736C=CA1608615531DSPc.7145C= (p.Ser2382=)
c.8474C= (p.Ser2825=)
c.6677C= (p.Ser2226=)
6g.7585736C>GCA362695224DSPc.7145C>G (p.Ser2382Cys)
c.8474C>G (p.Ser2825Cys)
c.6677C>G (p.Ser2226Cys)
 dbSNP gnomAD v4
6g.7585736C>TCA362695225DSPc.7145C>T (p.Ser2382Phe)
c.8474C>T (p.Ser2825Phe)
c.6677C>T (p.Ser2226Phe)
6g.7585736_7585758delinsCCCGCTCCGGCTCCCGCTCGGGACA1608615532DSPc.7145_7167delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2382=)
c.8474_8496delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2825=)
c.6677_6699delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2226=)
6g.7585737C>ACA448717232DSPc.7146C>A (p.Ser2382=)
c.8475C>A (p.Ser2825=)
c.6678C>A (p.Ser2226=)
6g.7585737C>GCA448717233DSPc.7146C>G (p.Ser2382=)
c.8475C>G (p.Ser2825=)
c.6678C>G (p.Ser2226=)
6g.7585737C>TCA448717234DSPc.7146C>T (p.Ser2382=)
c.8475C>T (p.Ser2825=)
c.6678C>T (p.Ser2226=)
 gnomAD v4
6g.7585740_7585744delCA2578524533DSPc.7149_7153del (p.Ser2384LeufsTer23)
c.8478_8482del (p.Ser2827LeufsTer23)
c.6681_6685del (p.Ser2228LeufsTer23)
6g.7585737_7585758delCA052448DSPc.7146_7167del (p.Arg2383LeufsTer?)
c.8475_8496del (p.Arg2826LeufsTer?)
c.6678_6699del (p.Arg2227LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585737_7585761delinsCCGCTCCGGCTCCCGCTCGGGATCTCA1608615534DSPc.7146_7170delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2382=)
c.8475_8499delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2825=)
c.6678_6702delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2226=)
6g.7585738C>ACA362695226DSPc.7147C>A (p.Arg2383Ser)
c.8476C>A (p.Arg2826Ser)
c.6679C>A (p.Arg2227Ser)
 ClinVar dbSNP
6g.7585738C=CA1608615537DSPc.7147C= (p.Arg2383=)
c.8476C= (p.Arg2826=)
c.6679C= (p.Arg2227=)
6g.7585738C>GCA362695227DSPc.7147C>G (p.Arg2383Gly)
c.8476C>G (p.Arg2826Gly)
c.6679C>G (p.Arg2227Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585738C>TCA007610DSPc.7147C>T (p.Arg2383Cys)
c.8476C>T (p.Arg2826Cys)
c.6679C>T (p.Arg2227Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585746_7585769delCA133978081DSPc.7155_7178del (p.Ser2386_Gly2393del)
c.8484_8507del (p.Ser2829_Gly2836del)
c.6687_6710del (p.Ser2230_Gly2237del)
 ClinVar dbSNP
6g.7585738_7585739insCGGGGCA565358231DSPc.7147_7148insCGGGG (p.Arg2383ProfsTer?)
c.8476_8477insCGGGG (p.Arg2826ProfsTer?)
c.6679_6680insCGGGG (p.Arg2227ProfsTer?)
 gnomAD v2
6g.7585739G>ACA052461DSPc.7148G>A (p.Arg2383His)
c.8477G>A (p.Arg2826His)
c.6680G>A (p.Arg2227His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585739G>CCA362695228DSPc.7148G>C (p.Arg2383Pro)
c.8477G>C (p.Arg2826Pro)
c.6680G>C (p.Arg2227Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.7585739G=CA1608615542DSPc.7148G= (p.Arg2383=)
c.8477G= (p.Arg2826=)
c.6680G= (p.Arg2227=)
6g.7585739G>TCA362695229DSPc.7148G>T (p.Arg2383Leu)
c.8477G>T (p.Arg2826Leu)
c.6680G>T (p.Arg2227Leu)
6g.7585740C>ACA448531233DSPc.7149C>A (p.Arg2383=)
c.8478C>A (p.Arg2826=)
c.6681C>A (p.Arg2227=)
6g.7585740C=CA1608615558DSPc.7149C= (p.Arg2383=)
c.8478C= (p.Arg2826=)
c.6681C= (p.Arg2227=)
6g.7585740C>GCA448531235DSPc.7149C>G (p.Arg2383=)
c.8478C>G (p.Arg2826=)
c.6681C>G (p.Arg2227=)
 gnomAD v4
6g.7585740C>TCA448531234DSPc.7149C>T (p.Arg2383=)
c.8478C>T (p.Arg2826=)
c.6681C>T (p.Arg2227=)
 ClinVar
6g.7585741T>ACA362695232DSPc.7150T>A (p.Ser2384Thr)
c.8479T>A (p.Ser2827Thr)
c.6682T>A (p.Ser2228Thr)
6g.7585741T>CCA362695231DSPc.7150T>C (p.Ser2384Pro)
c.8479T>C (p.Ser2827Pro)
c.6682T>C (p.Ser2228Pro)
6g.7585741T>GCA362695230DSPc.7150T>G (p.Ser2384Ala)
c.8479T>G (p.Ser2827Ala)
c.6682T>G (p.Ser2228Ala)
6g.7585741_7585742insGATTGATAGAGATTTGTATCGATCA565105930DSPc.7150_7151insGATTGATAGAGATTTGTATCGAT (p.Ser2384Ter)
c.8479_8480insGATTGATAGAGATTTGTATCGAT (p.Ser2827Ter)
c.6682_6683insGATTGATAGAGATTTGTATCGAT (p.Ser2228Ter)
 dbSNP gnomAD v2
6g.7585742C>ACA362695233DSPc.7151C>A (p.Ser2384Tyr)
c.8480C>A (p.Ser2827Tyr)
c.6683C>A (p.Ser2228Tyr)
6g.7585742C=CA1608615566DSPc.7151C= (p.Ser2384=)
c.8480C= (p.Ser2827=)
c.6683C= (p.Ser2228=)
6g.7585742C>GCA052462DSPc.7151C>G (p.Ser2384Cys)
c.8480C>G (p.Ser2827Cys)
c.6683C>G (p.Ser2228Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585742C>TCA362695234DSPc.7151C>T (p.Ser2384Phe)
c.8480C>T (p.Ser2827Phe)
c.6683C>T (p.Ser2228Phe)
 ClinVar dbSNP
6g.7585743C>ACA448531236DSPc.7152C>A (p.Ser2384=)
c.8481C>A (p.Ser2827=)
c.6684C>A (p.Ser2228=)
6g.7585743C=CA1608615578DSPc.7152C= (p.Ser2384=)
c.8481C= (p.Ser2827=)
c.6684C= (p.Ser2228=)
6g.7585743C>GCA448531237DSPc.7152C>G (p.Ser2384=)
c.8481C>G (p.Ser2827=)
c.6684C>G (p.Ser2228=)
 ClinVar
6g.7585743C>TCA007634DSPc.7152C>T (p.Ser2384=)
c.8481C>T (p.Ser2827=)
c.6684C>T (p.Ser2228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585743_7585755delinsCGGCTCCCGCTCGCA1608615570DSPc.7152_7164delinsCGGCTCCCGCTCG (p.Ser2384=)
c.8481_8493delinsCGGCTCCCGCTCG (p.Ser2827=)
c.6684_6696delinsCGGCTCCCGCTCG (p.Ser2228=)
6g.7585743_7585761delinsCGGCTCCCGCTCGGGATCTCA1608615573DSPc.7152_7170delinsCGGCTCCCGCTCGGGATCT (p.Ser2384=)
c.8481_8499delinsCGGCTCCCGCTCGGGATCT (p.Ser2827=)
c.6684_6702delinsCGGCTCCCGCTCGGGATCT (p.Ser2228=)
6g.7585744G>ACA052478DSPc.7153G>A (p.Gly2385Ser)
c.8482G>A (p.Gly2828Ser)
c.6685G>A (p.Gly2229Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585744G>CCA362695235DSPc.7153G>C (p.Gly2385Arg)
c.8482G>C (p.Gly2828Arg)
c.6685G>C (p.Gly2229Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7585744G=CA1608615585DSPc.7153G= (p.Gly2385=)
c.8482G= (p.Gly2828=)
c.6685G= (p.Gly2229=)
6g.7585744G>TCA362695236DSPc.7153G>T (p.Gly2385Cys)
c.8482G>T (p.Gly2828Cys)
c.6685G>T (p.Gly2229Cys)
 ClinVar dbSNP gnomAD v4
6g.7585746_7585757delCA658796722DSPc.7155_7166del (p.Ser2386_Gly2389del)
c.8484_8495del (p.Ser2829_Gly2832del)
c.6687_6698del (p.Ser2230_Gly2233del)
 ClinVar dbSNP
6g.7585744_7585761delCA1085707252DSPc.7153_7170del (p.Gly2385_Ser2390del)
c.8482_8499del (p.Gly2828_Ser2833del)
c.6685_6702del (p.Gly2229_Ser2234del)
 dbSNP gnomAD v3 gnomAD v4
6g.7585745G>ACA362695237DSPc.7154G>A (p.Gly2385Asp)
c.8483G>A (p.Gly2828Asp)
c.6686G>A (p.Gly2229Asp)
6g.7585745G>CCA362695238DSPc.7154G>C (p.Gly2385Ala)
c.8483G>C (p.Gly2828Ala)
c.6686G>C (p.Gly2229Ala)
6g.7585745G>TCA362695239DSPc.7154G>T (p.Gly2385Val)
c.8483G>T (p.Gly2828Val)
c.6686G>T (p.Gly2229Val)
6g.7585746C>ACA448531238DSPc.7155C>A (p.Gly2385=)
c.8484C>A (p.Gly2828=)
c.6687C>A (p.Gly2229=)
6g.7585746C=CA1608615592DSPc.7155C= (p.Gly2385=)
c.8484C= (p.Gly2828=)
c.6687C= (p.Gly2229=)
6g.7585746C>GCA448531239DSPc.7155C>G (p.Gly2385=)
c.8484C>G (p.Gly2828=)
c.6687C>G (p.Gly2229=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585746C>TCA448531240DSPc.7155C>T (p.Gly2385=)
c.8484C>T (p.Gly2828=)
c.6687C>T (p.Gly2229=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585746_7585758delinsCTCCCGCTCGGGACA1608615590DSPc.7155_7167delinsCTCCCGCTCGGGA (p.Gly2385=)
c.8484_8496delinsCTCCCGCTCGGGA (p.Gly2828=)
c.6687_6699delinsCTCCCGCTCGGGA (p.Gly2229=)
6g.7585747T>ACA362695240DSPc.7156T>A (p.Ser2386Thr)
c.8485T>A (p.Ser2829Thr)
c.6688T>A (p.Ser2230Thr)
6g.7585747T>CCA362695241DSPc.7156T>C (p.Ser2386Pro)
c.8485T>C (p.Ser2829Pro)
c.6688T>C (p.Ser2230Pro)
6g.7585747T>GCA362695242DSPc.7156T>G (p.Ser2386Ala)
c.8485T>G (p.Ser2829Ala)
c.6688T>G (p.Ser2230Ala)
6g.7585749_7585760delCA007642DSPc.7158_7169del (p.Arg2387_Ser2390del)
c.8487_8498del (p.Arg2830_Ser2833del)
c.6690_6701del (p.Arg2231_Ser2234del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585748C>ACA362695245DSPc.7157C>A (p.Ser2386Tyr)
c.8486C>A (p.Ser2829Tyr)
c.6689C>A (p.Ser2230Tyr)
6g.7585748C>GCA362695243DSPc.7157C>G (p.Ser2386Cys)
c.8486C>G (p.Ser2829Cys)
c.6689C>G (p.Ser2230Cys)
 ClinVar dbSNP
6g.7585748C>TCA362695244DSPc.7157C>T (p.Ser2386Phe)
c.8486C>T (p.Ser2829Phe)
c.6689C>T (p.Ser2230Phe)
6g.7585749C>ACA448531242DSPc.7158C>A (p.Ser2386=)
c.8487C>A (p.Ser2829=)
c.6690C>A (p.Ser2230=)
6g.7585749C=CA1608615607DSPc.7158C= (p.Ser2386=)
c.8487C= (p.Ser2829=)
c.6690C= (p.Ser2230=)
6g.7585749C>GCA448531241DSPc.7158C>G (p.Ser2386=)
c.8487C>G (p.Ser2829=)
c.6690C>G (p.Ser2230=)
6g.7585749C>TCA448531243DSPc.7158C>T (p.Ser2386=)
c.8487C>T (p.Ser2829=)
c.6690C>T (p.Ser2230=)
 dbSNP
6g.7585749_7585761delinsCCGCTCGGGATCTCA1608615602DSPc.7158_7170delinsCCGCTCGGGATCT (p.Ser2386=)
c.8487_8499delinsCCGCTCGGGATCT (p.Ser2829=)
c.6690_6702delinsCCGCTCGGGATCT (p.Ser2230=)
6g.7585749_7585773delinsCCGCTCGGGATCTCGCTCCGGATCTCA1608615613DSPc.7158_7182delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2386=)
c.8487_8511delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2829=)
c.6690_6714delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2230=)
6g.7585750C>ACA362695246DSPc.7159C>A (p.Arg2387Ser)
c.8488C>A (p.Arg2830Ser)
c.6691C>A (p.Arg2231Ser)
 ClinVar dbSNP gnomAD v4
6g.7585750C=CA1608615639DSPc.7159C= (p.Arg2387=)
c.8488C= (p.Arg2830=)
c.6691C= (p.Arg2231=)
6g.7585750C>GCA362695247DSPc.7159C>G (p.Arg2387Gly)
c.8488C>G (p.Arg2830Gly)
c.6691C>G (p.Arg2231Gly)
6g.7585750C>TCA362695248DSPc.7159C>T (p.Arg2387Cys)
c.8488C>T (p.Arg2830Cys)
c.6691C>T (p.Arg2231Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585755_7585766dupCA052498DSPc.7164_7175dup (p.Ser2392_Gly2393insGlySerArgSer)
c.8493_8504dup (p.Ser2835_Gly2836insGlySerArgSer)
c.6696_6707dup (p.Ser2236_Gly2237insGlySerArgSer)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585755_7585766delCA565105938DSPc.7164_7175del (p.Gly2389_Ser2392del)
c.8493_8504del (p.Gly2832_Ser2835del)
c.6696_6707del (p.Gly2233_Ser2236del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585755_7585778delCA658683438DSPc.7164_7187del (p.Gly2389_Ser2396del)
c.8493_8516del (p.Gly2832_Ser2839del)
c.6696_6719del (p.Gly2233_Ser2240del)
 ClinVar dbSNP gnomAD v4
6g.7585751G>ACA362695249DSPc.7160G>A (p.Arg2387His)
c.8489G>A (p.Arg2830His)
c.6692G>A (p.Arg2231His)
 dbSNP
6g.7585751G>CCA362695250DSPc.7160G>C (p.Arg2387Pro)
c.8489G>C (p.Arg2830Pro)
c.6692G>C (p.Arg2231Pro)
6g.7585751G=CA1608615649DSPc.7160G= (p.Arg2387=)
c.8489G= (p.Arg2830=)
c.6692G= (p.Arg2231=)
6g.7585751G>TCA362695251DSPc.7160G>T (p.Arg2387Leu)
c.8489G>T (p.Arg2830Leu)
c.6692G>T (p.Arg2231Leu)
6g.7585752C>ACA448531244DSPc.7161C>A (p.Arg2387=)
c.8490C>A (p.Arg2830=)
c.6693C>A (p.Arg2231=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585752C=CA1608615658DSPc.7161C= (p.Arg2387=)
c.8490C= (p.Arg2830=)
c.6693C= (p.Arg2231=)
6g.7585752C>GCA448531245DSPc.7161C>G (p.Arg2387=)
c.8490C>G (p.Arg2830=)
c.6693C>G (p.Arg2231=)
6g.7585752C>TCA448531246DSPc.7161C>T (p.Arg2387=)
c.8490C>T (p.Arg2830=)
c.6693C>T (p.Arg2231=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585753T>ACA362695252DSPc.7162T>A (p.Ser2388Thr)
c.8491T>A (p.Ser2831Thr)
c.6694T>A (p.Ser2232Thr)
6g.7585753T>CCA362695253DSPc.7162T>C (p.Ser2388Pro)
c.8491T>C (p.Ser2831Pro)
c.6694T>C (p.Ser2232Pro)
 gnomAD v4
6g.7585753T>GCA362695254DSPc.7162T>G (p.Ser2388Ala)
c.8491T>G (p.Ser2831Ala)
c.6694T>G (p.Ser2232Ala)
6g.7585754C>ACA362695256DSPc.7163C>A (p.Ser2388Ter)
c.8492C>A (p.Ser2831Ter)
c.6695C>A (p.Ser2232Ter)
 gnomAD v4
6g.7585754C=CA1608615662DSPc.7163C= (p.Ser2388=)
c.8492C= (p.Ser2831=)
c.6695C= (p.Ser2232=)
6g.7585754C>GCA362695255DSPc.7163C>G (p.Ser2388Trp)
c.8492C>G (p.Ser2831Trp)
c.6695C>G (p.Ser2232Trp)
 dbSNP
6g.7585754C>TCA052507DSPc.7163C>T (p.Ser2388Leu)
c.8492C>T (p.Ser2831Leu)
c.6695C>T (p.Ser2232Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585755G>ACA3628105DSPc.7164G>A (p.Ser2388=)
c.8493G>A (p.Ser2831=)
c.6696G>A (p.Ser2232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585755G>CCA007660DSPc.7164G>C (p.Ser2388=)
c.8493G>C (p.Ser2831=)
c.6696G>C (p.Ser2232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585755G=CA1608615671DSPc.7164G= (p.Ser2388=)
c.8493G= (p.Ser2831=)
c.6696G= (p.Ser2232=)
6g.7585755G>TCA448531247DSPc.7164G>T (p.Ser2388=)
c.8493G>T (p.Ser2831=)
c.6696G>T (p.Ser2232=)
 gnomAD v4
6g.7585755_7585767delinsGGGATCTCGCTCCCA1608615669DSPc.7164_7176delinsGGGATCTCGCTCC (p.Ser2388=)
c.8493_8505delinsGGGATCTCGCTCC (p.Ser2831=)
c.6696_6708delinsGGGATCTCGCTCC (p.Ser2232=)
6g.7585756G>ACA052563DSPc.7165G>A (p.Gly2389Arg)
c.8494G>A (p.Gly2832Arg)
c.6697G>A (p.Gly2233Arg)
 dbSNP ExAC gnomAD v2
6g.7585756G>CCA362695257DSPc.7165G>C (p.Gly2389Arg)
c.8494G>C (p.Gly2832Arg)
c.6697G>C (p.Gly2233Arg)
6g.7585756G=CA1608615706DSPc.7165G= (p.Gly2389=)
c.8494G= (p.Gly2832=)
c.6697G= (p.Gly2233=)
6g.7585756G>TCA362695258DSPc.7165G>T (p.Gly2389Ter)
c.8494G>T (p.Gly2832Ter)
c.6697G>T (p.Gly2233Ter)
6g.7585760_7585761insCCGCTCCGGATCCA3628106DSPc.7169_7170insCCGCTCCGGATC (p.Ser2390_Arg2391insArgSerGlySer)
c.8498_8499insCCGCTCCGGATC (p.Ser2833_Arg2834insArgSerGlySer)
c.6701_6702insCCGCTCCGGATC (p.Ser2234_Arg2235insArgSerGlySer)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585770_7585781dupCA3628104DSPc.7179_7190dup (p.Gly2397_Ser2398insSerArgSerGly)
c.8508_8519dup (p.Gly2840_Ser2841insSerArgSerGly)
c.6711_6722dup (p.Gly2241_Ser2242insSerArgSerGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585770_7585781delCA007688DSPc.7179_7190del (p.Ser2394_Gly2397del)
c.8508_8519del (p.Ser2837_Gly2840del)
c.6711_6722del (p.Ser2238_Gly2241del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585757G>ACA362695259DSPc.7166G>A (p.Gly2389Glu)
c.8495G>A (p.Gly2832Glu)
c.6698G>A (p.Gly2233Glu)
6g.7585757G>CCA362695260DSPc.7166G>C (p.Gly2389Ala)
c.8495G>C (p.Gly2832Ala)
c.6698G>C (p.Gly2233Ala)
 ClinVar dbSNP gnomAD v4
6g.7585757G=CA1608615711DSPc.7166G= (p.Gly2389=)
c.8495G= (p.Gly2832=)
c.6698G= (p.Gly2233=)
6g.7585757G>TCA007670DSPc.7166G>T (p.Gly2389Val)
c.8495G>T (p.Gly2832Val)
c.6698G>T (p.Gly2233Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585758A=CA1608615722DSPc.7167A= (p.Gly2389=)
c.8496A= (p.Gly2832=)
c.6699A= (p.Gly2233=)
6g.7585758A>CCA052583DSPc.7167A>C (p.Gly2389=)
c.8496A>C (p.Gly2832=)
c.6699A>C (p.Gly2233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585758A>GCA448531248DSPc.7167A>G (p.Gly2389=)
c.8496A>G (p.Gly2832=)
c.6699A>G (p.Gly2233=)
6g.7585758A>TCA448531249DSPc.7167A>T (p.Gly2389=)
c.8496A>T (p.Gly2832=)
c.6699A>T (p.Gly2233=)
 COSMIC
6g.7585758_7585762dupCA565105959DSPc.7167_7171dup (p.Arg2391HisfsTer?)
c.8496_8500dup (p.Arg2834HisfsTer?)
c.6699_6703dup (p.Arg2235HisfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585759T>ACA362695263DSPc.7168T>A (p.Ser2390Thr)
c.8497T>A (p.Ser2833Thr)
c.6700T>A (p.Ser2234Thr)
6g.7585759T>CCA362695262DSPc.7168T>C (p.Ser2390Pro)
c.8497T>C (p.Ser2833Pro)
c.6700T>C (p.Ser2234Pro)
 gnomAD v4
6g.7585759T>GCA362695261DSPc.7168T>G (p.Ser2390Ala)
c.8497T>G (p.Ser2833Ala)
c.6700T>G (p.Ser2234Ala)
6g.7585760C>ACA362695264DSPc.7169C>A (p.Ser2390Tyr)
c.8498C>A (p.Ser2833Tyr)
c.6701C>A (p.Ser2234Tyr)
 gnomAD v4
6g.7585760C=CA1608615733DSPc.7169C= (p.Ser2390=)
c.8498C= (p.Ser2833=)
c.6701C= (p.Ser2234=)
6g.7585760C>GCA052592DSPc.7169C>G (p.Ser2390Cys)
c.8498C>G (p.Ser2833Cys)
c.6701C>G (p.Ser2234Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585760C>TCA362695265DSPc.7169C>T (p.Ser2390Phe)
c.8498C>T (p.Ser2833Phe)
c.6701C>T (p.Ser2234Phe)
 ClinVar
6g.7585761T>ACA448531250DSPc.7170T>A (p.Ser2390=)
c.8499T>A (p.Ser2833=)
c.6702T>A (p.Ser2234=)
 dbSNP gnomAD v2 gnomAD v4
6g.7585761T>CCA448531252DSPc.7170T>C (p.Ser2390=)
c.8499T>C (p.Ser2833=)
c.6702T>C (p.Ser2234=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585761T>GCA448531251DSPc.7170T>G (p.Ser2390=)
c.8499T>G (p.Ser2833=)
c.6702T>G (p.Ser2234=)
6g.7585761T=CA1608615739DSPc.7170T= (p.Ser2390=)
c.8499T= (p.Ser2833=)
c.6702T= (p.Ser2234=)
6g.7585762C>ACA362695266DSPc.7171C>A (p.Arg2391Ser)
c.8500C>A (p.Arg2834Ser)
c.6703C>A (p.Arg2235Ser)
6g.7585762C=CA1608615748DSPc.7171C= (p.Arg2391=)
c.8500C= (p.Arg2834=)
c.6703C= (p.Arg2235=)
6g.7585762C>GCA362695267DSPc.7171C>G (p.Arg2391Gly)
c.8500C>G (p.Arg2834Gly)
c.6703C>G (p.Arg2235Gly)
6g.7585762C>TCA052606DSPc.7171C>T (p.Arg2391Cys)
c.8500C>T (p.Arg2834Cys)
c.6703C>T (p.Arg2235Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585763G>ACA007679DSPc.7172G>A (p.Arg2391His)
c.8501G>A (p.Arg2834His)
c.6704G>A (p.Arg2235His)
 ClinVar dbSNP gnomAD v4
6g.7585763G>CCA362695268DSPc.7172G>C (p.Arg2391Pro)
c.8501G>C (p.Arg2834Pro)
c.6704G>C (p.Arg2235Pro)
6g.7585763G=CA1608615758DSPc.7172G= (p.Arg2391=)
c.8501G= (p.Arg2834=)
c.6704G= (p.Arg2235=)
6g.7585763G>TCA362695269DSPc.7172G>T (p.Arg2391Leu)
c.8501G>T (p.Arg2834Leu)
c.6704G>T (p.Arg2235Leu)
 dbSNP gnomAD v4
6g.7585764C>ACA448531255DSPc.7173C>A (p.Arg2391=)
c.8502C>A (p.Arg2834=)
c.6705C>A (p.Arg2235=)
6g.7585764C>GCA448531253DSPc.7173C>G (p.Arg2391=)
c.8502C>G (p.Arg2834=)
c.6705C>G (p.Arg2235=)
6g.7585764C>TCA448531254DSPc.7173C>T (p.Arg2391=)
c.8502C>T (p.Arg2834=)
c.6705C>T (p.Arg2235=)
6g.7585765T>ACA362695270DSPc.7174T>A (p.Ser2392Thr)
c.8503T>A (p.Ser2835Thr)
c.6706T>A (p.Ser2236Thr)
6g.7585765T>CCA362695271DSPc.7174T>C (p.Ser2392Pro)
c.8503T>C (p.Ser2835Pro)
c.6706T>C (p.Ser2236Pro)
6g.7585765T>GCA362695272DSPc.7174T>G (p.Ser2392Ala)
c.8503T>G (p.Ser2835Ala)
c.6706T>G (p.Ser2236Ala)
6g.7585766C>ACA362695275DSPc.7175C>A (p.Ser2392Tyr)
c.8504C>A (p.Ser2835Tyr)
c.6707C>A (p.Ser2236Tyr)
6g.7585766C>GCA362695274DSPc.7175C>G (p.Ser2392Cys)
c.8504C>G (p.Ser2835Cys)
c.6707C>G (p.Ser2236Cys)
 COSMIC
6g.7585766C>TCA362695273DSPc.7175C>T (p.Ser2392Phe)
c.8504C>T (p.Ser2835Phe)
c.6707C>T (p.Ser2236Phe)
6g.7585767C>ACA448531258DSPc.7176C>A (p.Ser2392=)
c.8505C>A (p.Ser2835=)
c.6708C>A (p.Ser2236=)
6g.7585767C=CA1608615764DSPc.7176C= (p.Ser2392=)
c.8505C= (p.Ser2835=)
c.6708C= (p.Ser2236=)
6g.7585767C>GCA448531256DSPc.7176C>G (p.Ser2392=)
c.8505C>G (p.Ser2835=)
c.6708C>G (p.Ser2236=)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.7585767C>TCA448531257DSPc.7176C>T (p.Ser2392=)
c.8505C>T (p.Ser2835=)
c.6708C>T (p.Ser2236=)
 dbSNP gnomAD v2 gnomAD v4
6g.7585768G>ACA052612DSPc.7177G>A (p.Gly2393Arg)
c.8506G>A (p.Gly2836Arg)
c.6709G>A (p.Gly2237Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585768G>CCA362695276DSPc.7177G>C (p.Gly2393Arg)
c.8506G>C (p.Gly2836Arg)
c.6709G>C (p.Gly2237Arg)
6g.7585768G=CA1608615772DSPc.7177G= (p.Gly2393=)
c.8506G= (p.Gly2836=)
c.6709G= (p.Gly2237=)
6g.7585768G>TCA362695277DSPc.7177G>T (p.Gly2393Ter)
c.8506G>T (p.Gly2836Ter)
c.6709G>T (p.Gly2237Ter)
6g.7585769G>ACA052621DSPc.7178G>A (p.Gly2393Glu)
c.8507G>A (p.Gly2836Glu)
c.6710G>A (p.Gly2237Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585769G>CCA362695278DSPc.7178G>C (p.Gly2393Ala)
c.8507G>C (p.Gly2836Ala)
c.6710G>C (p.Gly2237Ala)
 ClinVar dbSNP gnomAD v4
6g.7585769G=CA1608615782DSPc.7178G= (p.Gly2393=)
c.8507G= (p.Gly2836=)
c.6710G= (p.Gly2237=)
6g.7585769G>TCA362695279DSPc.7178G>T (p.Gly2393Val)
c.8507G>T (p.Gly2836Val)
c.6710G>T (p.Gly2237Val)
 gnomAD v4
6g.7585770A=CA1608615793DSPc.7179A= (p.Gly2393=)
c.8508A= (p.Gly2836=)
c.6711A= (p.Gly2237=)
6g.7585770A>CCA448531259DSPc.7179A>C (p.Gly2393=)
c.8508A>C (p.Gly2836=)
c.6711A>C (p.Gly2237=)
6g.7585770A>GCA052628DSPc.7179A>G (p.Gly2393=)
c.8508A>G (p.Gly2836=)
c.6711A>G (p.Gly2237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585770A>TCA448531260DSPc.7179A>T (p.Gly2393=)
c.8508A>T (p.Gly2836=)
c.6711A>T (p.Gly2237=)
6g.7585770_7585779delinsATCTCGCTCCCA1608615789DSPc.7179_7188delinsATCTCGCTCC (p.Gly2393=)
c.8508_8517delinsATCTCGCTCC (p.Gly2836=)
c.6711_6720delinsATCTCGCTCC (p.Gly2237=)
6g.7585770_7585779delinsGTCCCGCAGTCA913190060DSPc.7179_7188delinsGTCCCGCAGT (p.Gly2393=)
c.8508_8517delinsGTCCCGCAGT (p.Gly2836=)
c.6711_6720delinsGTCCCGCAGT (p.Gly2237=)
 ClinVar dbSNP
6g.7585771T>ACA362695280DSPc.7180T>A (p.Ser2394Thr)
c.8509T>A (p.Ser2837Thr)
c.6712T>A (p.Ser2238Thr)
 ClinVar dbSNP
6g.7585771T>CCA362695281DSPc.7180T>C (p.Ser2394Pro)
c.8509T>C (p.Ser2837Pro)
c.6712T>C (p.Ser2238Pro)
6g.7585771T>GCA362695282DSPc.7180T>G (p.Ser2394Ala)
c.8509T>G (p.Ser2837Ala)
c.6712T>G (p.Ser2238Ala)
6g.7585771T=CA1608615802DSPc.7180T= (p.Ser2394=)
c.8509T= (p.Ser2837=)
c.6712T= (p.Ser2238=)
6g.7585772C>ACA362695283DSPc.7181C>A (p.Ser2394Tyr)
c.8510C>A (p.Ser2837Tyr)
c.6713C>A (p.Ser2238Tyr)
6g.7585772C>GCA362695284DSPc.7181C>G (p.Ser2394Cys)
c.8510C>G (p.Ser2837Cys)
c.6713C>G (p.Ser2238Cys)
 dbSNP
6g.7585772C>TCA362695285DSPc.7181C>T (p.Ser2394Phe)
c.8510C>T (p.Ser2837Phe)
c.6713C>T (p.Ser2238Phe)
 gnomAD v4
6g.7585773T>ACA448531261DSPc.7182T>A (p.Ser2394=)
c.8511T>A (p.Ser2837=)
c.6714T>A (p.Ser2238=)
6g.7585773T>CCA052649DSPc.7182T>C (p.Ser2394=)
c.8511T>C (p.Ser2837=)
c.6714T>C (p.Ser2238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585773T>GCA448531262DSPc.7182T>G (p.Ser2394=)
c.8511T>G (p.Ser2837=)
c.6714T>G (p.Ser2238=)
6g.7585773T=CA1608615811DSPc.7182T= (p.Ser2394=)
c.8511T= (p.Ser2837=)
c.6714T= (p.Ser2238=)
6g.7585774C>ACA362695287DSPc.7183C>A (p.Arg2395Ser)
c.8512C>A (p.Arg2838Ser)
c.6715C>A (p.Arg2239Ser)
 gnomAD v4
6g.7585774C=CA1608615823DSPc.7183C= (p.Arg2395=)
c.8512C= (p.Arg2838=)
c.6715C= (p.Arg2239=)
6g.7585774C>GCA362695286DSPc.7183C>G (p.Arg2395Gly)
c.8512C>G (p.Arg2838Gly)
c.6715C>G (p.Arg2239Gly)
6g.7585774C>TCA052658DSPc.7183C>T (p.Arg2395Cys)
c.8512C>T (p.Arg2838Cys)
c.6715C>T (p.Arg2239Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585777_7585788dupCA2677222124DSPc.7186_7197dup (p.Arg2399_Ser2400insSerGlySerArg)
c.8515_8526dup (p.Arg2842_Ser2843insSerGlySerArg)
c.6718_6729dup (p.Arg2243_Ser2244insSerGlySerArg)
 ClinVar gnomAD v4
6g.7585775G>ACA133978230DSPc.7184G>A (p.Arg2395His)
c.8513G>A (p.Arg2838His)
c.6716G>A (p.Arg2239His)
 ClinVar dbSNP gnomAD v4
6g.7585775G>CCA362695288DSPc.7184G>C (p.Arg2395Pro)
c.8513G>C (p.Arg2838Pro)
c.6716G>C (p.Arg2239Pro)
 dbSNP
6g.7585775G=CA1608615828DSPc.7184G= (p.Arg2395=)
c.8513G= (p.Arg2838=)
c.6716G= (p.Arg2239=)
6g.7585775G>TCA362695289DSPc.7184G>T (p.Arg2395Leu)
c.8513G>T (p.Arg2838Leu)
c.6716G>T (p.Arg2239Leu)
 gnomAD v4
6g.7585776C>ACA448531263DSPc.7185C>A (p.Arg2395=)
c.8514C>A (p.Arg2838=)
c.6717C>A (p.Arg2239=)
6g.7585776C=CA1608615834DSPc.7185C= (p.Arg2395=)
c.8514C= (p.Arg2838=)
c.6717C= (p.Arg2239=)
6g.7585776C>GCA448531264DSPc.7185C>G (p.Arg2395=)
c.8514C>G (p.Arg2838=)
c.6717C>G (p.Arg2239=)
 gnomAD v4
6g.7585776C>TCA448531265DSPc.7185C>T (p.Arg2395=)
c.8514C>T (p.Arg2838=)
c.6717C>T (p.Arg2239=)
6g.7585776_7585777insAGCA052667DSPc.7185_7186insAG (p.Gly2397ProfsTer?)
c.8514_8515insAG (p.Gly2840ProfsTer?)
c.6717_6718insAG (p.Gly2241ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585777T>ACA362695290DSPc.7186T>A (p.Ser2396Thr)
c.8515T>A (p.Ser2839Thr)
c.6718T>A (p.Ser2240Thr)
 dbSNP
6g.7585777T>CCA362695291DSPc.7186T>C (p.Ser2396Pro)
c.8515T>C (p.Ser2839Pro)
c.6718T>C (p.Ser2240Pro)
6g.7585777T>GCA362695292DSPc.7186T>G (p.Ser2396Ala)
c.8515T>G (p.Ser2839Ala)
c.6718T>G (p.Ser2240Ala)
 ClinVar
6g.7585777T=CA1608615845DSPc.7186T= (p.Ser2396=)
c.8515T= (p.Ser2839=)
c.6718T= (p.Ser2240=)
6g.7585777_7585779delinsAGTCA658796723DSPc.7186_7188delinsAGT (p.Ser2396=)
c.8515_8517delinsAGT (p.Ser2839=)
c.6718_6720delinsAGT (p.Ser2240=)
 ClinVar dbSNP
6g.7585777_7585779delinsTCCCA1608615842DSPc.7186_7188delinsTCC (p.Ser2396=)
c.8515_8517delinsTCC (p.Ser2839=)
c.6718_6720delinsTCC (p.Ser2240=)
6g.7585778C>ACA362695293DSPc.7187C>A (p.Ser2396Tyr)
c.8516C>A (p.Ser2839Tyr)
c.6719C>A (p.Ser2240Tyr)
6g.7585778C=CA1608615852DSPc.7187C= (p.Ser2396=)
c.8516C= (p.Ser2839=)
c.6719C= (p.Ser2240=)
6g.7585778C>GCA052682DSPc.7187C>G (p.Ser2396Cys)
c.8516C>G (p.Ser2839Cys)
c.6719C>G (p.Ser2240Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585778C>TCA362695294DSPc.7187C>T (p.Ser2396Phe)
c.8516C>T (p.Ser2839Phe)
c.6719C>T (p.Ser2240Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585778_7585779delCA052674DSPc.7187_7188del (p.Ser2396TrpfsTer12)
c.8516_8517del (p.Ser2839TrpfsTer12)
c.6719_6720del (p.Ser2240TrpfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585779C>ACA448531266DSPc.7188C>A (p.Ser2396=)
c.8517C>A (p.Ser2839=)
c.6720C>A (p.Ser2240=)
6g.7585779C=CA1608615856DSPc.7188C= (p.Ser2396=)
c.8517C= (p.Ser2839=)
c.6720C= (p.Ser2240=)
6g.7585779C>GCA448531267DSPc.7188C>G (p.Ser2396=)
c.8517C>G (p.Ser2839=)
c.6720C>G (p.Ser2240=)
 ClinVar gnomAD v4
6g.7585779C>TCA448531268DSPc.7188C>T (p.Ser2396=)
c.8517C>T (p.Ser2839=)
c.6720C>T (p.Ser2240=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585780G>ACA362695296DSPc.7189G>A (p.Gly2397Arg)
c.8518G>A (p.Gly2840Arg)
c.6721G>A (p.Gly2241Arg)
 ClinVar dbSNP
6g.7585780G>CCA362695295DSPc.7189G>C (p.Gly2397Arg)
c.8518G>C (p.Gly2840Arg)
c.6721G>C (p.Gly2241Arg)
6g.7585780G=CA1608615864DSPc.7189G= (p.Gly2397=)
c.8518G= (p.Gly2840=)
c.6721G= (p.Gly2241=)
6g.7585780G>TCA052690DSPc.7189G>T (p.Gly2397Trp)
c.8518G>T (p.Gly2840Trp)
c.6721G>T (p.Gly2241Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585788_7585799dupCA1608615861DSPc.7197_7208dup (p.Arg2403_Arg2404insSerGlySerArg)
c.8526_8537dup (p.Arg2846_Arg2847insSerGlySerArg)
c.6729_6740dup (p.Arg2247_Arg2248insSerGlySerArg)
 dbSNP
6g.7585788_7585799delCA2677222188DSPc.7197_7208del (p.Ser2400_Arg2403del)
c.8526_8537del (p.Ser2843_Arg2846del)
c.6729_6740del (p.Ser2244_Arg2247del)
 gnomAD v4
6g.7585781G>ACA362695299DSPc.7190G>A (p.Gly2397Glu)
c.8519G>A (p.Gly2840Glu)
c.6722G>A (p.Gly2241Glu)
 ClinVar dbSNP
6g.7585781G>CCA362695297DSPc.7190G>C (p.Gly2397Ala)
c.8519G>C (p.Gly2840Ala)
c.6722G>C (p.Gly2241Ala)
6g.7585781G=CA1608615870DSPc.7190G= (p.Gly2397=)
c.8519G= (p.Gly2840=)
c.6722G= (p.Gly2241=)
6g.7585781G>TCA362695298DSPc.7190G>T (p.Gly2397Val)
c.8519G>T (p.Gly2840Val)
c.6722G>T (p.Gly2241Val)
 dbSNP gnomAD v2 gnomAD v4
6g.7585782G>ACA448531269DSPc.7191G>A (p.Gly2397=)
c.8520G>A (p.Gly2840=)
c.6723G>A (p.Gly2241=)
6g.7585782G>CCA448531270DSPc.7191G>C (p.Gly2397=)
c.8520G>C (p.Gly2840=)
c.6723G>C (p.Gly2241=)
6g.7585782G>TCA448531271DSPc.7191G>T (p.Gly2397=)
c.8520G>T (p.Gly2840=)
c.6723G>T (p.Gly2241=)
 gnomAD v4
6g.7585783T>ACA362695300DSPc.7192T>A (p.Ser2398Thr)
c.8521T>A (p.Ser2841Thr)
c.6724T>A (p.Ser2242Thr)
6g.7585783T>CCA362695301DSPc.7192T>C (p.Ser2398Pro)
c.8521T>C (p.Ser2841Pro)
c.6724T>C (p.Ser2242Pro)
6g.7585783T>GCA362695302DSPc.7192T>G (p.Ser2398Ala)
c.8521T>G (p.Ser2841Ala)
c.6724T>G (p.Ser2242Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.7585783T=CA1608615900DSPc.7192T= (p.Ser2398=)
c.8521T= (p.Ser2841=)
c.6724T= (p.Ser2242=)
6g.7585784C>ACA362695303DSPc.7193C>A (p.Ser2398Tyr)
c.8522C>A (p.Ser2841Tyr)
c.6725C>A (p.Ser2242Tyr)
6g.7585784C>GCA362695304DSPc.7193C>G (p.Ser2398Cys)
c.8522C>G (p.Ser2841Cys)
c.6725C>G (p.Ser2242Cys)
6g.7585784C>TCA362695305DSPc.7193C>T (p.Ser2398Phe)
c.8522C>T (p.Ser2841Phe)
c.6725C>T (p.Ser2242Phe)
6g.7585785C>ACA448531272DSPc.7194C>A (p.Ser2398=)
c.8523C>A (p.Ser2841=)
c.6726C>A (p.Ser2242=)
6g.7585785C>GCA448531273DSPc.7194C>G (p.Ser2398=)
c.8523C>G (p.Ser2841=)
c.6726C>G (p.Ser2242=)
6g.7585785C>TCA448531274DSPc.7194C>T (p.Ser2398=)
c.8523C>T (p.Ser2841=)
c.6726C>T (p.Ser2242=)
 gnomAD v4
6g.7585786C>ACA362695306DSPc.7195C>A (p.Arg2399Ser)
c.8524C>A (p.Arg2842Ser)
c.6727C>A (p.Arg2243Ser)
6g.7585786C=CA1608615915DSPc.7195C= (p.Arg2399=)
c.8524C= (p.Arg2842=)
c.6727C= (p.Arg2243=)
6g.7585786C>GCA362695307DSPc.7195C>G (p.Arg2399Gly)
c.8524C>G (p.Arg2842Gly)
c.6727C>G (p.Arg2243Gly)
 ClinVar
6g.7585786C>TCA16612075DSPc.7195C>T (p.Arg2399Cys)
c.8524C>T (p.Arg2842Cys)
c.6727C>T (p.Arg2243Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.7585787G>ACA362695308DSPc.7196G>A (p.Arg2399His)
c.8525G>A (p.Arg2842His)
c.6728G>A (p.Arg2243His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7585787G>CCA362695309DSPc.7196G>C (p.Arg2399Pro)
c.8525G>C (p.Arg2842Pro)
c.6728G>C (p.Arg2243Pro)
6g.7585787G=CA1608615923DSPc.7196G= (p.Arg2399=)
c.8525G= (p.Arg2842=)
c.6728G= (p.Arg2243=)
6g.7585787G>TCA362695310DSPc.7196G>T (p.Arg2399Leu)
c.8525G>T (p.Arg2842Leu)
c.6728G>T (p.Arg2243Leu)
 ClinVar dbSNP
6g.7585788C>ACA448531275DSPc.7197C>A (p.Arg2399=)
c.8526C>A (p.Arg2842=)
c.6729C>A (p.Arg2243=)
6g.7585788C=CA1608615931DSPc.7197C= (p.Arg2399=)
c.8526C= (p.Arg2842=)
c.6729C= (p.Arg2243=)
6g.7585788C>GCA133978248DSPc.7197C>G (p.Arg2399=)
c.8526C>G (p.Arg2842=)
c.6729C>G (p.Arg2243=)
 dbSNP gnomAD v3 gnomAD v4
6g.7585788C>TCA448531276DSPc.7197C>T (p.Arg2399=)
c.8526C>T (p.Arg2842=)
c.6729C>T (p.Arg2243=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7585788_7585800delinsCAGTGGGTCCCGGCA1608615936DSPc.7197_7209delinsCAGTGGGTCCCGG (p.Arg2399=)
c.8526_8538delinsCAGTGGGTCCCGG (p.Arg2842=)
c.6729_6741delinsCAGTGGGTCCCGG (p.Arg2243=)
6g.7585789A=CA1608615967DSPc.7198A= (p.Ser2400=)
c.8527A= (p.Ser2843=)
c.6730A= (p.Ser2244=)
6g.7585789A>CCA362695311DSPc.7198A>C (p.Ser2400Arg)
c.8527A>C (p.Ser2843Arg)
c.6730A>C (p.Ser2244Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585789A>GCA362695312DSPc.7198A>G (p.Ser2400Gly)
c.8527A>G (p.Ser2843Gly)
c.6730A>G (p.Ser2244Gly)
6g.7585789A>TCA362695313DSPc.7198A>T (p.Ser2400Cys)
c.8527A>T (p.Ser2843Cys)
c.6730A>T (p.Ser2244Cys)
 dbSNP
6g.7585791_7585802delCA007705DSPc.7200_7211del (p.Ser2400_Arg2403del)
c.8529_8540del (p.Ser2843_Arg2846del)
c.6732_6743del (p.Ser2244_Arg2247del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585790G>ACA362695314DSPc.7199G>A (p.Ser2400Asn)
c.8528G>A (p.Ser2843Asn)
c.6731G>A (p.Ser2244Asn)
6g.7585790G>CCA362695315DSPc.7199G>C (p.Ser2400Thr)
c.8528G>C (p.Ser2843Thr)
c.6731G>C (p.Ser2244Thr)
6g.7585790G=CA1608615976DSPc.7199G= (p.Ser2400=)
c.8528G= (p.Ser2843=)
c.6731G= (p.Ser2244=)
6g.7585790G>TCA362695316DSPc.7199G>T (p.Ser2400Ile)
c.8528G>T (p.Ser2843Ile)
c.6731G>T (p.Ser2244Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585791T>ACA362695317DSPc.7200T>A (p.Ser2400Arg)
c.8529T>A (p.Ser2843Arg)
c.6732T>A (p.Ser2244Arg)
6g.7585791T>CCA052709DSPc.7200T>C (p.Ser2400=)
c.8529T>C (p.Ser2843=)
c.6732T>C (p.Ser2244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585791T>GCA362695318DSPc.7200T>G (p.Ser2400Arg)
c.8529T>G (p.Ser2843Arg)
c.6732T>G (p.Ser2244Arg)
 gnomAD v4
6g.7585791T=CA1608615984DSPc.7200T= (p.Ser2400=)
c.8529T= (p.Ser2843=)
c.6732T= (p.Ser2244=)
6g.7585792G>ACA362695319DSPc.7201G>A (p.Gly2401Arg)
c.8530G>A (p.Gly2844Arg)
c.6733G>A (p.Gly2245Arg)
 gnomAD v4
6g.7585792G>CCA362695320DSPc.7201G>C (p.Gly2401Arg)
c.8530G>C (p.Gly2844Arg)
c.6733G>C (p.Gly2245Arg)
6g.7585792G>TCA362695321DSPc.7201G>T (p.Gly2401Trp)
c.8530G>T (p.Gly2844Trp)
c.6733G>T (p.Gly2245Trp)
 COSMIC
6g.7585793G>ACA362695322DSPc.7202G>A (p.Gly2401Glu)
c.8531G>A (p.Gly2844Glu)
c.6734G>A (p.Gly2245Glu)
6g.7585793G>CCA052732DSPc.7202G>C (p.Gly2401Ala)
c.8531G>C (p.Gly2844Ala)
c.6734G>C (p.Gly2245Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585793G=CA1608616000DSPc.7202G= (p.Gly2401=)
c.8531G= (p.Gly2844=)
c.6734G= (p.Gly2245=)
6g.7585793G>TCA007722DSPc.7202G>T (p.Gly2401Val)
c.8531G>T (p.Gly2844Val)
c.6734G>T (p.Gly2245Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585794G>ACA448531279DSPc.7203G>A (p.Gly2401=)
c.8532G>A (p.Gly2844=)
c.6735G>A (p.Gly2245=)
6g.7585794G>CCA448531277DSPc.7203G>C (p.Gly2401=)
c.8532G>C (p.Gly2844=)
c.6735G>C (p.Gly2245=)
6g.7585794G>TCA448531278DSPc.7203G>T (p.Gly2401=)
c.8532G>T (p.Gly2844=)
c.6735G>T (p.Gly2245=)
 gnomAD v4
6g.7585795T>ACA362695323DSPc.7204T>A (p.Ser2402Thr)
c.8533T>A (p.Ser2845Thr)
c.6736T>A (p.Ser2246Thr)
 dbSNP
6g.7585795T>CCA362695325DSPc.7204T>C (p.Ser2402Pro)
c.8533T>C (p.Ser2845Pro)
c.6736T>C (p.Ser2246Pro)
 gnomAD v4
6g.7585795T>GCA362695324DSPc.7204T>G (p.Ser2402Ala)
c.8533T>G (p.Ser2845Ala)
c.6736T>G (p.Ser2246Ala)
6g.7585795T=CA1608616006DSPc.7204T= (p.Ser2402=)
c.8533T= (p.Ser2845=)
c.6736T= (p.Ser2246=)
6g.7585796C>ACA362695326DSPc.7205C>A (p.Ser2402Tyr)
c.8534C>A (p.Ser2845Tyr)
c.6737C>A (p.Ser2246Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585796C=CA1608616010DSPc.7205C= (p.Ser2402=)
c.8534C= (p.Ser2845=)
c.6737C= (p.Ser2246=)
6g.7585796C>GCA362695327DSPc.7205C>G (p.Ser2402Cys)
c.8534C>G (p.Ser2845Cys)
c.6737C>G (p.Ser2246Cys)
6g.7585796C>TCA362695328DSPc.7205C>T (p.Ser2402Phe)
c.8534C>T (p.Ser2845Phe)
c.6737C>T (p.Ser2246Phe)
6g.7585797C>ACA448531280DSPc.7206C>A (p.Ser2402=)
c.8535C>A (p.Ser2845=)
c.6738C>A (p.Ser2246=)
6g.7585797C=CA1608616017DSPc.7206C= (p.Ser2402=)
c.8535C= (p.Ser2845=)
c.6738C= (p.Ser2246=)
6g.7585797C>GCA448531282DSPc.7206C>G (p.Ser2402=)
c.8535C>G (p.Ser2845=)
c.6738C>G (p.Ser2246=)
6g.7585797C>TCA448531281DSPc.7206C>T (p.Ser2402=)
c.8535C>T (p.Ser2845=)
c.6738C>T (p.Ser2246=)
 dbSNP
6g.7585798C>ACA448531283DSPc.7207C>A (p.Arg2403=)
c.8536C>A (p.Arg2846=)
c.6739C>A (p.Arg2247=)
6g.7585798C=CA1608616021DSPc.7207C= (p.Arg2403=)
c.8536C= (p.Arg2846=)
c.6739C= (p.Arg2247=)
6g.7585798C>GCA007730DSPc.7207C>G (p.Arg2403Gly)
c.8536C>G (p.Arg2846Gly)
c.6739C>G (p.Arg2247Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585798C>TCA362695329DSPc.7207C>T (p.Arg2403Trp)
c.8536C>T (p.Arg2846Trp)
c.6739C>T (p.Arg2247Trp)
 ClinVar gnomAD v4
6g.7585799G>ACA052753DSPc.7208G>A (p.Arg2403Gln)
c.8537G>A (p.Arg2846Gln)
c.6740G>A (p.Arg2247Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7585799G>CCA362695330DSPc.7208G>C (p.Arg2403Pro)
c.8537G>C (p.Arg2846Pro)
c.6740G>C (p.Arg2247Pro)
6g.7585799G=CA1608616024DSPc.7208G= (p.Arg2403=)
c.8537G= (p.Arg2846=)
c.6740G= (p.Arg2247=)
6g.7585799G>TCA362695331DSPc.7208G>T (p.Arg2403Leu)
c.8537G>T (p.Arg2846Leu)
c.6740G>T (p.Arg2247Leu)
6g.7585800G>ACA448531284DSPc.7209G>A (p.Arg2403=)
c.8538G>A (p.Arg2846=)
c.6741G>A (p.Arg2247=)
6g.7585800G>CCA448531285DSPc.7209G>C (p.Arg2403=)
c.8538G>C (p.Arg2846=)
c.6741G>C (p.Arg2247=)
 dbSNP
6g.7585800G=CA1608616027DSPc.7209G= (p.Arg2403=)
c.8538G= (p.Arg2846=)
c.6741G= (p.Arg2247=)
6g.7585800G>TCA448531286DSPc.7209G>T (p.Arg2403=)
c.8538G>T (p.Arg2846=)
c.6741G>T (p.Arg2247=)
6g.7585801A=CA1608616031DSPc.7210A= (p.Arg2404=)
c.8539A= (p.Arg2847=)
c.6742A= (p.Arg2248=)
6g.7585801A>CCA133978309DSPc.7210A>C (p.Arg2404=)
c.8539A>C (p.Arg2847=)
c.6742A>C (p.Arg2248=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585801A>GCA362695332DSPc.7210A>G (p.Arg2404Gly)
c.8539A>G (p.Arg2847Gly)
c.6742A>G (p.Arg2248Gly)
6g.7585801A>TCA362695333DSPc.7210A>T (p.Arg2404Ter)
c.8539A>T (p.Arg2847Ter)
c.6742A>T (p.Arg2248Ter)
6g.7585802G>ACA362695336DSPc.7211G>A (p.Arg2404Lys)
c.8540G>A (p.Arg2847Lys)
c.6743G>A (p.Arg2248Lys)
 dbSNP
6g.7585802G>CCA362695335DSPc.7211G>C (p.Arg2404Thr)
c.8540G>C (p.Arg2847Thr)
c.6743G>C (p.Arg2248Thr)
6g.7585802G=CA1608616034DSPc.7211G= (p.Arg2404=)
c.8540G= (p.Arg2847=)
c.6743G= (p.Arg2248=)
6g.7585802G>TCA362695334DSPc.7211G>T (p.Arg2404Ile)
c.8540G>T (p.Arg2847Ile)
c.6743G>T (p.Arg2248Ile)
6g.7585803A>CCA362695337DSPc.7212A>C (p.Arg2404Ser)
c.8541A>C (p.Arg2847Ser)
c.6744A>C (p.Arg2248Ser)
6g.7585803A>GCA448531287DSPc.7212A>G (p.Arg2404=)
c.8541A>G (p.Arg2847=)
c.6744A>G (p.Arg2248=)
6g.7585803A>TCA362695338DSPc.7212A>T (p.Arg2404Ser)
c.8541A>T (p.Arg2847Ser)
c.6744A>T (p.Arg2248Ser)
6g.7585804G>ACA362695339DSPc.7213G>A (p.Gly2405Arg)
c.8542G>A (p.Gly2848Arg)
c.6745G>A (p.Gly2249Arg)
 gnomAD v4
6g.7585804G>CCA362695340DSPc.7213G>C (p.Gly2405Arg)
c.8542G>C (p.Gly2848Arg)
c.6745G>C (p.Gly2249Arg)
6g.7585804G>TCA362695341DSPc.7213G>T (p.Gly2405Ter)
c.8542G>T (p.Gly2848Ter)
c.6745G>T (p.Gly2249Ter)
6g.7585805G>ACA362695342DSPc.7214G>A (p.Gly2405Glu)
c.8543G>A (p.Gly2848Glu)
c.6746G>A (p.Gly2249Glu)
 gnomAD v4 COSMIC
6g.7585805G>CCA362695343DSPc.7214G>C (p.Gly2405Ala)
c.8543G>C (p.Gly2848Ala)
c.6746G>C (p.Gly2249Ala)
6g.7585805G>TCA362695344DSPc.7214G>T (p.Gly2405Val)
c.8543G>T (p.Gly2848Val)
c.6746G>T (p.Gly2249Val)
6g.7585806A=CA1608616041DSPc.7215A= (p.Gly2405=)
c.8544A= (p.Gly2848=)
c.6747A= (p.Gly2249=)
6g.7585806A>CCA052766DSPc.7215A>C (p.Gly2405=)
c.8544A>C (p.Gly2848=)
c.6747A>C (p.Gly2249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585806A>GCA448531288DSPc.7215A>G (p.Gly2405=)
c.8544A>G (p.Gly2848=)
c.6747A>G (p.Gly2249=)
6g.7585806A>TCA448531289DSPc.7215A>T (p.Gly2405=)
c.8544A>T (p.Gly2848=)
c.6747A>T (p.Gly2249=)
 ClinVar gnomAD v4
6g.7585807A>CCA362695345DSPc.7216A>C (p.Ser2406Arg)
c.8545A>C (p.Ser2849Arg)
c.6748A>C (p.Ser2250Arg)
6g.7585807A>GCA362695346DSPc.7216A>G (p.Ser2406Gly)
c.8545A>G (p.Ser2849Gly)
c.6748A>G (p.Ser2250Gly)
6g.7585807A>TCA362695347DSPc.7216A>T (p.Ser2406Cys)
c.8545A>T (p.Ser2849Cys)
c.6748A>T (p.Ser2250Cys)
6g.7585808G>ACA362695350DSPc.7217G>A (p.Ser2406Asn)
c.8546G>A (p.Ser2849Asn)
c.6749G>A (p.Ser2250Asn)
6g.7585808G>CCA362695349DSPc.7217G>C (p.Ser2406Thr)
c.8546G>C (p.Ser2849Thr)
c.6749G>C (p.Ser2250Thr)
6g.7585808G>TCA362695348DSPc.7217G>T (p.Ser2406Ile)
c.8546G>T (p.Ser2849Ile)
c.6749G>T (p.Ser2250Ile)
 gnomAD v4
6g.7585809C>ACA362695351DSPc.7218C>A (p.Ser2406Arg)
c.8547C>A (p.Ser2849Arg)
c.6750C>A (p.Ser2250Arg)
6g.7585809C=CA1608616046DSPc.7218C= (p.Ser2406=)
c.8547C= (p.Ser2849=)
c.6750C= (p.Ser2250=)
6g.7585809C>GCA362695352DSPc.7218C>G (p.Ser2406Arg)
c.8547C>G (p.Ser2849Arg)
c.6750C>G (p.Ser2250Arg)
 gnomAD v4
6g.7585809C>TCA448531290DSPc.7218C>T (p.Ser2406=)
c.8547C>T (p.Ser2849=)
c.6750C>T (p.Ser2250=)
 dbSNP gnomAD v3 gnomAD v4
6g.7585810T>ACA362695353DSPc.7219T>A (p.Phe2407Ile)
c.8548T>A (p.Phe2850Ile)
c.6751T>A (p.Phe2251Ile)
6g.7585810T>CCA362695354DSPc.7219T>C (p.Phe2407Leu)
c.8548T>C (p.Phe2850Leu)
c.6751T>C (p.Phe2251Leu)
 gnomAD v4
6g.7585810T>GCA362695355DSPc.7219T>G (p.Phe2407Val)
c.8548T>G (p.Phe2850Val)
c.6751T>G (p.Phe2251Val)
6g.7585811T>ACA362695356DSPc.7220T>A (p.Phe2407Tyr)
c.8549T>A (p.Phe2850Tyr)
c.6752T>A (p.Phe2251Tyr)
6g.7585811T>CCA362695357DSPc.7220T>C (p.Phe2407Ser)
c.8549T>C (p.Phe2850Ser)
c.6752T>C (p.Phe2251Ser)
6g.7585811T>GCA362695358DSPc.7220T>G (p.Phe2407Cys)
c.8549T>G (p.Phe2850Cys)
c.6752T>G (p.Phe2251Cys)
6g.7585812T>ACA362695359DSPc.7221T>A (p.Phe2407Leu)
c.8550T>A (p.Phe2850Leu)
c.6753T>A (p.Phe2251Leu)
6g.7585812T>CCA448531291DSPc.7221T>C (p.Phe2407=)
c.8550T>C (p.Phe2850=)
c.6753T>C (p.Phe2251=)
6g.7585812T>GCA362695360DSPc.7221T>G (p.Phe2407Leu)
c.8550T>G (p.Phe2850Leu)
c.6753T>G (p.Phe2251Leu)
6g.7585813G>ACA362695361DSPc.7222G>A (p.Asp2408Asn)
c.8551G>A (p.Asp2851Asn)
c.6754G>A (p.Asp2252Asn)
 gnomAD v4
6g.7585813G>CCA362695362DSPc.7222G>C (p.Asp2408His)
c.8551G>C (p.Asp2851His)
c.6754G>C (p.Asp2252His)
 dbSNP gnomAD v2 gnomAD v4
6g.7585813G=CA1608616050DSPc.7222G= (p.Asp2408=)
c.8551G= (p.Asp2851=)
c.6754G= (p.Asp2252=)
6g.7585813G>TCA362695363DSPc.7222G>T (p.Asp2408Tyr)
c.8551G>T (p.Asp2851Tyr)
c.6754G>T (p.Asp2252Tyr)
6g.7585814A=CA1608616059DSPc.7223A= (p.Asp2408=)
c.8552A= (p.Asp2851=)
c.6755A= (p.Asp2252=)
6g.7585814A>CCA362695366DSPc.7223A>C (p.Asp2408Ala)
c.8552A>C (p.Asp2851Ala)
c.6755A>C (p.Asp2252Ala)
6g.7585814A>GCA362695364DSPc.7223A>G (p.Asp2408Gly)
c.8552A>G (p.Asp2851Gly)
c.6755A>G (p.Asp2252Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7585814A>TCA362695365DSPc.7223A>T (p.Asp2408Val)
c.8552A>T (p.Asp2851Val)
c.6755A>T (p.Asp2252Val)
6g.7585815C>ACA362695367DSPc.7224C>A (p.Asp2408Glu)
c.8553C>A (p.Asp2851Glu)
c.6756C>A (p.Asp2252Glu)
 gnomAD v4
6g.7585815C=CA1608616062DSPc.7224C= (p.Asp2408=)
c.8553C= (p.Asp2851=)
c.6756C= (p.Asp2252=)
6g.7585815C>GCA362695368DSPc.7224C>G (p.Asp2408Glu)
c.8553C>G (p.Asp2851Glu)
c.6756C>G (p.Asp2252Glu)
6g.7585815C>TCA448531292DSPc.7224C>T (p.Asp2408=)
c.8553C>T (p.Asp2851=)
c.6756C>T (p.Asp2252=)
 ClinVar dbSNP gnomAD v4
6g.7585816_7585817dupCA2825001491DSPc.7225_7226dup (p.Thr2410ProfsTer?)
c.8554_8555dup (p.Thr2853ProfsTer?)
c.6757_6758dup (p.Thr2254ProfsTer?)
 ClinVar
6g.7585816G>ACA362695369DSPc.7225G>A (p.Ala2409Thr)
c.8554G>A (p.Ala2852Thr)
c.6757G>A (p.Ala2253Thr)
 gnomAD v4 COSMIC
6g.7585816G>CCA362695370DSPc.7225G>C (p.Ala2409Pro)
c.8554G>C (p.Ala2852Pro)
c.6757G>C (p.Ala2253Pro)
6g.7585816G>TCA362695371DSPc.7225G>T (p.Ala2409Ser)
c.8554G>T (p.Ala2852Ser)
c.6757G>T (p.Ala2253Ser)
6g.7585817C>ACA362695372DSPc.7226C>A (p.Ala2409Asp)
c.8555C>A (p.Ala2852Asp)
c.6758C>A (p.Ala2253Asp)
6g.7585817C>GCA362695373DSPc.7226C>G (p.Ala2409Gly)
c.8555C>G (p.Ala2852Gly)
c.6758C>G (p.Ala2253Gly)
6g.7585817C>TCA362695374DSPc.7226C>T (p.Ala2409Val)
c.8555C>T (p.Ala2852Val)
c.6758C>T (p.Ala2253Val)
6g.7585818C>ACA448531293DSPc.7227C>A (p.Ala2409=)
c.8556C>A (p.Ala2852=)
c.6759C>A (p.Ala2253=)
6g.7585818C=CA1608616076DSPc.7227C= (p.Ala2409=)
c.8556C= (p.Ala2852=)
c.6759C= (p.Ala2253=)
6g.7585818C>GCA448531294DSPc.7227C>G (p.Ala2409=)
c.8556C>G (p.Ala2852=)
c.6759C>G (p.Ala2253=)
6g.7585818C>TCA448531295DSPc.7227C>T (p.Ala2409=)
c.8556C>T (p.Ala2852=)
c.6759C>T (p.Ala2253=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7585819A=CA1608616080DSPc.7228A= (p.Thr2410=)
c.8557A= (p.Thr2853=)
c.6760A= (p.Thr2254=)
6g.7585819A>CCA133978316DSPc.7228A>C (p.Thr2410Pro)
c.8557A>C (p.Thr2853Pro)
c.6760A>C (p.Thr2254Pro)
 dbSNP
6g.7585819A>GCA362695375DSPc.7228A>G (p.Thr2410Ala)
c.8557A>G (p.Thr2853Ala)
c.6760A>G (p.Thr2254Ala)
6g.7585819A>TCA362695376DSPc.7228A>T (p.Thr2410Ser)
c.8557A>T (p.Thr2853Ser)
c.6760A>T (p.Thr2254Ser)
 gnomAD v4
6g.7585820C>ACA362695379DSPc.7229C>A (p.Thr2410Lys)
c.8558C>A (p.Thr2853Lys)
c.6761C>A (p.Thr2254Lys)
6g.7585820C>GCA362695378DSPc.7229C>G (p.Thr2410Arg)
c.8558C>G (p.Thr2853Arg)
c.6761C>G (p.Thr2254Arg)
 gnomAD v4
6g.7585820C>TCA362695377DSPc.7229C>T (p.Thr2410Ile)
c.8558C>T (p.Thr2853Ile)
c.6761C>T (p.Thr2254Ile)
 ClinVar
6g.7585821A=CA1608616088DSPc.7230A= (p.Thr2410=)
c.8559A= (p.Thr2853=)
c.6762A= (p.Thr2254=)
6g.7585821A>CCA448531296DSPc.7230A>C (p.Thr2410=)
c.8559A>C (p.Thr2853=)
c.6762A>C (p.Thr2254=)
 ClinVar dbSNP gnomAD v4
6g.7585821A>GCA448531297DSPc.7230A>G (p.Thr2410=)
c.8559A>G (p.Thr2853=)
c.6762A>G (p.Thr2254=)
 ClinVar dbSNP
6g.7585821A>TCA448531298DSPc.7230A>T (p.Thr2410=)
c.8559A>T (p.Thr2853=)
c.6762A>T (p.Thr2254=)
6g.7585822G>ACA362695380DSPc.7231G>A (p.Gly2411Arg)
c.8560G>A (p.Gly2854Arg)
c.6763G>A (p.Gly2255Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7585822G>CCA052774DSPc.7231G>C (p.Gly2411Arg)
c.8560G>C (p.Gly2854Arg)
c.6763G>C (p.Gly2255Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7585822G=CA1608616101DSPc.7231G= (p.Gly2411=)
c.8560G= (p.Gly2854=)
c.6763G= (p.Gly2255=)
6g.7585822G>TCA362695381DSPc.7231G>T (p.Gly2411Trp)
c.8560G>T (p.Gly2854Trp)
c.6763G>T (p.Gly2255Trp)
6g.7585823G>ACA133978331DSPc.7232G>A (p.Gly2411Glu)
c.8561G>A (p.Gly2854Glu)
c.6764G>A (p.Gly2255Glu)
 dbSNP
6g.7585823G>CCA362695382DSPc.7232G>C (p.Gly2411Ala)
c.8561G>C (p.Gly2854Ala)
c.6764G>C (p.Gly2255Ala)
6g.7585823G=CA1608616108DSPc.7232G= (p.Gly2411=)
c.8561G= (p.Gly2854=)
c.6764G= (p.Gly2255=)
6g.7585823G>TCA362695383DSPc.7232G>T (p.Gly2411Val)
c.8561G>T (p.Gly2854Val)
c.6764G>T (p.Gly2255Val)
6g.7585824G>ACA448531299DSPc.7233G>A (p.Gly2411=)
c.8562G>A (p.Gly2854=)
c.6765G>A (p.Gly2255=)
6g.7585824G>CCA448531300DSPc.7233G>C (p.Gly2411=)
c.8562G>C (p.Gly2854=)
c.6765G>C (p.Gly2255=)
6g.7585824G>TCA448531301DSPc.7233G>T (p.Gly2411=)
c.8562G>T (p.Gly2854=)
c.6765G>T (p.Gly2255=)
6g.7585825A>CCA362695384DSPc.7234A>C (p.Asn2412His)
c.8563A>C (p.Asn2855His)
c.6766A>C (p.Asn2256His)
6g.7585825A>GCA362695385DSPc.7234A>G (p.Asn2412Asp)
c.8563A>G (p.Asn2855Asp)
c.6766A>G (p.Asn2256Asp)
 gnomAD v4
6g.7585825A>TCA362695386DSPc.7234A>T (p.Asn2412Tyr)
c.8563A>T (p.Asn2855Tyr)
c.6766A>T (p.Asn2256Tyr)
6g.7585826A=CA1608616114DSPc.7235A= (p.Asn2412=)
c.8564A= (p.Asn2855=)
c.6767A= (p.Asn2256=)
6g.7585826A>CCA362695388DSPc.7235A>C (p.Asn2412Thr)
c.8564A>C (p.Asn2855Thr)
c.6767A>C (p.Asn2256Thr)
6g.7585826A>GCA362695387DSPc.7235A>G (p.Asn2412Ser)
c.8564A>G (p.Asn2855Ser)
c.6767A>G (p.Asn2256Ser)
6g.7585826A>TCA052787DSPc.7235A>T (p.Asn2412Ile)
c.8564A>T (p.Asn2855Ile)
c.6767A>T (p.Asn2256Ile)
 dbSNP ExAC gnomAD v2
6g.7585827T>ACA362695389DSPc.7236T>A (p.Asn2412Lys)
c.8565T>A (p.Asn2855Lys)
c.6768T>A (p.Asn2256Lys)
6g.7585827T>CCA448531302DSPc.7236T>C (p.Asn2412=)
c.8565T>C (p.Asn2855=)
c.6768T>C (p.Asn2256=)
6g.7585827T>GCA362695390DSPc.7236T>G (p.Asn2412Lys)
c.8565T>G (p.Asn2855Lys)
c.6768T>G (p.Asn2256Lys)
 ClinVar gnomAD v4

Number of alleles fetched