Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.44148538_44152555dupCA1139771162GCKc.*207-130_*678-705dup
c.209-130_680-705dup
n.695-130_2387dup
c.212-130_683-705dup
c.206-130_677-705dup
c.209-130_629-705dup
7g.44150918C=CA1703636405GCKc.*481+38G= (n.*481+38G=)
c.483+38G= (n.483+38G=)
n.969+38G=
c.486+38G= (n.486+38G=)
c.480+38G= (n.480+38G=)
c.432+38G= (n.432+38G=)
7g.44150918C>TCA573798196GCKc.*481+38G>A (n.*481+38G>A)
c.483+38G>A (n.483+38G>A)
n.969+38G>A
c.486+38G>A (n.486+38G>A)
c.480+38G>A (n.480+38G>A)
c.432+38G>A (n.432+38G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44150920C=CA1703636406GCKc.*481+36G= (n.*481+36G=)
c.483+36G= (n.483+36G=)
n.969+36G=
c.486+36G= (n.486+36G=)
c.480+36G= (n.480+36G=)
c.432+36G= (n.432+36G=)
7g.44150920C>TCA4239617GCKc.*481+36G>A (n.*481+36G>A)
c.483+36G>A (n.483+36G>A)
n.969+36G>A
c.486+36G>A (n.486+36G>A)
c.480+36G>A (n.480+36G>A)
c.432+36G>A (n.432+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44150921C=CA1703636407GCKc.*481+35G= (n.*481+35G=)
c.483+35G= (n.483+35G=)
n.969+35G=
c.486+35G= (n.486+35G=)
c.480+35G= (n.480+35G=)
c.432+35G= (n.432+35G=)
7g.44150921C>GCA573798199GCKc.*481+35G>C (n.*481+35G>C)
c.483+35G>C (n.483+35G>C)
n.969+35G>C
c.486+35G>C (n.486+35G>C)
c.480+35G>C (n.480+35G>C)
c.432+35G>C (n.432+35G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44150921C>TCA1100760651GCKc.*481+35G>A (n.*481+35G>A)
c.483+35G>A (n.483+35G>A)
n.969+35G>A
c.486+35G>A (n.486+35G>A)
c.480+35G>A (n.480+35G>A)
c.432+35G>A (n.432+35G>A)
 dbSNP gnomAD v3 gnomAD v4
7g.44150923C=CA1703636408GCKc.*481+33G= (n.*481+33G=)
c.483+33G= (n.483+33G=)
n.969+33G=
c.486+33G= (n.486+33G=)
c.480+33G= (n.480+33G=)
c.432+33G= (n.432+33G=)
7g.44150923C>TCA4239618GCKc.*481+33G>A (n.*481+33G>A)
c.483+33G>A (n.483+33G>A)
n.969+33G>A
c.486+33G>A (n.486+33G>A)
c.480+33G>A (n.480+33G>A)
c.432+33G>A (n.432+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150925C>ACA2775231370GCKc.*481+31G>T (n.*481+31G>T)
c.483+31G>T (n.483+31G>T)
n.969+31G>T
c.486+31G>T (n.486+31G>T)
c.480+31G>T (n.480+31G>T)
c.432+31G>T (n.432+31G>T)
7g.44150926A=CA1703636409GCKc.*481+30T= (n.*481+30T=)
c.483+30T= (n.483+30T=)
n.969+30T=
c.486+30T= (n.486+30T=)
c.480+30T= (n.480+30T=)
c.432+30T= (n.432+30T=)
7g.44150926A>GCA4239619GCKc.*481+30T>C (n.*481+30T>C)
c.483+30T>C (n.483+30T>C)
n.969+30T>C
c.486+30T>C (n.486+30T>C)
c.480+30T>C (n.480+30T>C)
c.432+30T>C (n.432+30T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44150928C>TCA2682575117GCKc.*481+28G>A (n.*481+28G>A)
c.483+28G>A (n.483+28G>A)
n.969+28G>A
c.486+28G>A (n.486+28G>A)
c.480+28G>A (n.480+28G>A)
c.432+28G>A (n.432+28G>A)
 gnomAD v4
7g.44150930G=CA1703636410GCKc.*481+26C= (n.*481+26C=)
c.483+26C= (n.483+26C=)
n.969+26C=
c.486+26C= (n.486+26C=)
c.480+26C= (n.480+26C=)
c.432+26C= (n.432+26C=)
7g.44150930G>TCA4239620GCKc.*481+26C>A (n.*481+26C>A)
c.483+26C>A (n.483+26C>A)
n.969+26C>A
c.486+26C>A (n.486+26C>A)
c.480+26C>A (n.480+26C>A)
c.432+26C>A (n.432+26C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150931C=CA1703636411GCKc.*481+25G= (n.*481+25G=)
c.483+25G= (n.483+25G=)
n.969+25G=
c.486+25G= (n.486+25G=)
c.480+25G= (n.480+25G=)
c.432+25G= (n.432+25G=)
7g.44150931C>TCA4239621GCKc.*481+25G>A (n.*481+25G>A)
c.483+25G>A (n.483+25G>A)
n.969+25G>A
c.486+25G>A (n.486+25G>A)
c.480+25G>A (n.480+25G>A)
c.432+25G>A (n.432+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150932C=CA1703636412GCKc.*481+24G= (n.*481+24G=)
c.483+24G= (n.483+24G=)
n.969+24G=
c.486+24G= (n.486+24G=)
c.480+24G= (n.480+24G=)
c.432+24G= (n.432+24G=)
7g.44150932C>TCA157918102GCKc.*481+24G>A (n.*481+24G>A)
c.483+24G>A (n.483+24G>A)
n.969+24G>A
c.486+24G>A (n.486+24G>A)
c.480+24G>A (n.480+24G>A)
c.432+24G>A (n.432+24G>A)
 dbSNP
7g.44150933T>GCA2775231373GCKc.*481+23A>C (n.*481+23A>C)
c.483+23A>C (n.483+23A>C)
n.969+23A>C
c.486+23A>C (n.486+23A>C)
c.480+23A>C (n.480+23A>C)
c.432+23A>C (n.432+23A>C)
7g.44150936T>ACA2682575125GCKc.*481+20A>T (n.*481+20A>T)
c.483+20A>T (n.483+20A>T)
n.969+20A>T
c.486+20A>T (n.486+20A>T)
c.480+20A>T (n.480+20A>T)
c.432+20A>T (n.432+20A>T)
 gnomAD v4
7g.44150936T>CCA838781547GCKc.*481+20A>G (n.*481+20A>G)
c.483+20A>G (n.483+20A>G)
n.969+20A>G
c.486+20A>G (n.486+20A>G)
c.480+20A>G (n.480+20A>G)
c.432+20A>G (n.432+20A>G)
 dbSNP gnomAD v4
7g.44150936T=CA1703636413GCKc.*481+20A= (n.*481+20A=)
c.483+20A= (n.483+20A=)
n.969+20A=
c.486+20A= (n.486+20A=)
c.480+20A= (n.480+20A=)
c.432+20A= (n.432+20A=)
7g.44150936_44150937delinsTGCA1703636414GCKc.*481+19_*481+20delinsCA (n.*481+19_*481+20delinsCA)
c.483+19_483+20delinsCA (n.483+19_483+20delinsCA)
n.969+19_969+20delinsCA
c.486+19_486+20delinsCA (n.486+19_486+20delinsCA)
c.480+19_480+20delinsCA (n.480+19_480+20delinsCA)
c.432+19_432+20delinsCA (n.432+19_432+20delinsCA)
7g.44150937delCA573798210GCKc.*481+19del (n.*481+19del)
c.483+19del (n.483+19del)
n.969+19del
c.486+19del (n.486+19del)
c.480+19del (n.480+19del)
c.432+19del (n.432+19del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44150937G>CCA2714458026GCKc.*481+19C>G (n.*481+19C>G)
c.483+19C>G (n.483+19C>G)
n.969+19C>G
c.486+19C>G (n.486+19C>G)
c.480+19C>G (n.480+19C>G)
c.432+19C>G (n.432+19C>G)
 dbSNP
7g.44150937dupCA2682575134GCKc.*481+19dup (n.*481+19dup)
c.483+19dup (n.483+19dup)
n.969+19dup
c.486+19dup (n.486+19dup)
c.480+19dup (n.480+19dup)
c.432+19dup (n.432+19dup)
 gnomAD v4
7g.44150937_44150938insGCCA2682575136GCKc.*481+18_*481+19insGC (n.*481+18_*481+19insGC)
c.483+18_483+19insGC (n.483+18_483+19insGC)
n.969+18_969+19insGC
c.486+18_486+19insGC (n.486+18_486+19insGC)
c.480+18_480+19insGC (n.480+18_480+19insGC)
c.432+18_432+19insGC (n.432+18_432+19insGC)
 gnomAD v4
7g.44150937_44150938insGCCCA2682575138GCKc.*481+18_*481+19insGGC (n.*481+18_*481+19insGGC)
c.483+18_483+19insGGC (n.483+18_483+19insGGC)
n.969+18_969+19insGGC
c.486+18_486+19insGGC (n.486+18_486+19insGGC)
c.480+18_480+19insGGC (n.480+18_480+19insGGC)
c.432+18_432+19insGGC (n.432+18_432+19insGGC)
 gnomAD v4
7g.44150937_44150938insGCCCCCCA2775231374GCKc.*481+18_*481+19insGGGGGC (n.*481+18_*481+19insGGGGGC)
c.483+18_483+19insGGGGGC (n.483+18_483+19insGGGGGC)
n.969+18_969+19insGGGGGC
c.486+18_486+19insGGGGGC (n.486+18_486+19insGGGGGC)
c.480+18_480+19insGGGGGC (n.480+18_480+19insGGGGGC)
c.432+18_432+19insGGGGGC (n.432+18_432+19insGGGGGC)
7g.44150938C>TCA2578878412GCKc.*481+18G>A (n.*481+18G>A)
c.483+18G>A (n.483+18G>A)
n.969+18G>A
c.486+18G>A (n.486+18G>A)
c.480+18G>A (n.480+18G>A)
c.432+18G>A (n.432+18G>A)
 dbSNP
7g.44150939_44150954delinsCCCTCCACCCGGCCCACA1703636415GCKc.*481+2_*481+17delinsTGGGCCGGGTGGAGGG (n.*481+2_*481+17delinsTGGGCCGGGTGGAGGG)
c.483+2_483+17delinsTGGGCCGGGTGGAGGG (n.483+2_483+17delinsTGGGCCGGGTGGAGGG)
n.969+2_969+17delinsTGGGCCGGGTGGAGGG
c.486+2_486+17delinsTGGGCCGGGTGGAGGG (n.486+2_486+17delinsTGGGCCGGGTGGAGGG)
c.480+2_480+17delinsTGGGCCGGGTGGAGGG (n.480+2_480+17delinsTGGGCCGGGTGGAGGG)
c.432+2_432+17delinsTGGGCCGGGTGGAGGG (n.432+2_432+17delinsTGGGCCGGGTGGAGGG)
7g.44150940C>ACA2682575145GCKc.*481+16G>T (n.*481+16G>T)
c.483+16G>T (n.483+16G>T)
n.969+16G>T
c.486+16G>T (n.486+16G>T)
c.480+16G>T (n.480+16G>T)
c.432+16G>T (n.432+16G>T)
 gnomAD v4
7g.44150943_44150957delCA915944920GCKc.*481+2_*481+16del
c.483+2_483+16del
n.969+2_969+16del
c.486+2_486+16del
c.480+2_480+16del
c.432+2_432+16del
 ClinVar dbSNP gnomAD v4
7g.44150941C>ACA1703636416GCKc.*481+15G>T (n.*481+15G>T)
c.483+15G>T (n.483+15G>T)
n.969+15G>T
c.486+15G>T (n.486+15G>T)
c.480+15G>T (n.480+15G>T)
c.432+15G>T (n.432+15G>T)
 dbSNP
7g.44150941C=CA1703636417GCKc.*481+15G= (n.*481+15G=)
c.483+15G= (n.483+15G=)
n.969+15G=
c.486+15G= (n.486+15G=)
c.480+15G= (n.480+15G=)
c.432+15G= (n.432+15G=)
7g.44150941C>TCA2682575147GCKc.*481+15G>A (n.*481+15G>A)
c.483+15G>A (n.483+15G>A)
n.969+15G>A
c.486+15G>A (n.486+15G>A)
c.480+15G>A (n.480+15G>A)
c.432+15G>A (n.432+15G>A)
 gnomAD v4
7g.44150941_44150942delinsCTCA1703636418GCKc.*481+14_*481+15delinsAG (n.*481+14_*481+15delinsAG)
c.483+14_483+15delinsAG (n.483+14_483+15delinsAG)
n.969+14_969+15delinsAG
c.486+14_486+15delinsAG (n.486+14_486+15delinsAG)
c.480+14_480+15delinsAG (n.480+14_480+15delinsAG)
c.432+14_432+15delinsAG (n.432+14_432+15delinsAG)
7g.44150942delCA573798213GCKc.*481+14del (n.*481+14del)
c.483+14del (n.483+14del)
n.969+14del
c.486+14del (n.486+14del)
c.480+14del (n.480+14del)
c.432+14del (n.432+14del)
 dbSNP gnomAD v2 gnomAD v4
7g.44150942T>ACA2682575155GCKc.*481+14A>T (n.*481+14A>T)
c.483+14A>T (n.483+14A>T)
n.969+14A>T
c.486+14A>T (n.486+14A>T)
c.480+14A>T (n.480+14A>T)
c.432+14A>T (n.432+14A>T)
 gnomAD v4
7g.44150942T>CCA4239622GCKc.*481+14A>G (n.*481+14A>G)
c.483+14A>G (n.483+14A>G)
n.969+14A>G
c.486+14A>G (n.486+14A>G)
c.480+14A>G (n.480+14A>G)
c.432+14A>G (n.432+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150942T=CA1703636419GCKc.*481+14A= (n.*481+14A=)
c.483+14A= (n.483+14A=)
n.969+14A=
c.486+14A= (n.486+14A=)
c.480+14A= (n.480+14A=)
c.432+14A= (n.432+14A=)
7g.44150943C=CA1703636420GCKc.*481+13G= (n.*481+13G=)
c.483+13G= (n.483+13G=)
n.969+13G=
c.486+13G= (n.486+13G=)
c.480+13G= (n.480+13G=)
c.432+13G= (n.432+13G=)
7g.44150943C>TCA1703636421GCKc.*481+13G>A (n.*481+13G>A)
c.483+13G>A (n.483+13G>A)
n.969+13G>A
c.486+13G>A (n.486+13G>A)
c.480+13G>A (n.480+13G>A)
c.432+13G>A (n.432+13G>A)
 dbSNP gnomAD v4
7g.44150944C=CA1703636422GCKc.*481+12G= (n.*481+12G=)
c.483+12G= (n.483+12G=)
n.969+12G=
c.486+12G= (n.486+12G=)
c.480+12G= (n.480+12G=)
c.432+12G= (n.432+12G=)
7g.44150944C>TCA4239623GCKc.*481+12G>A (n.*481+12G>A)
c.483+12G>A (n.483+12G>A)
n.969+12G>A
c.486+12G>A (n.486+12G>A)
c.480+12G>A (n.480+12G>A)
c.432+12G>A (n.432+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150945A=CA1703636423GCKc.*481+11T= (n.*481+11T=)
c.483+11T= (n.483+11T=)
n.969+11T=
c.486+11T= (n.486+11T=)
c.480+11T= (n.480+11T=)
c.432+11T= (n.432+11T=)
7g.44150945A>CCA1100760665GCKc.*481+11T>G (n.*481+11T>G)
c.483+11T>G (n.483+11T>G)
n.969+11T>G
c.486+11T>G (n.486+11T>G)
c.480+11T>G (n.480+11T>G)
c.432+11T>G (n.432+11T>G)
 gnomAD v3 gnomAD v4
7g.44150945A>GCA4239624GCKc.*481+11T>C (n.*481+11T>C)
c.483+11T>C (n.483+11T>C)
n.969+11T>C
c.486+11T>C (n.486+11T>C)
c.480+11T>C (n.480+11T>C)
c.432+11T>C (n.432+11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150945_44150954delCA2695202949GCKc.*481+2_*481+11del (n.*481+2_*481+11del)
c.483+2_483+11del (n.483+2_483+11del)
n.969+2_969+11del
c.486+2_486+11del (n.486+2_486+11del)
c.480+2_480+11del (n.480+2_480+11del)
c.432+2_432+11del (n.432+2_432+11del)
7g.44150946C=CA1703636424GCKc.*481+10G= (n.*481+10G=)
c.483+10G= (n.483+10G=)
n.969+10G=
c.486+10G= (n.486+10G=)
c.480+10G= (n.480+10G=)
c.432+10G= (n.432+10G=)
7g.44150946C>TCA645564882GCKc.*481+10G>A (n.*481+10G>A)
c.483+10G>A (n.483+10G>A)
n.969+10G>A
c.486+10G>A (n.486+10G>A)
c.480+10G>A (n.480+10G>A)
c.432+10G>A (n.432+10G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44150947C=CA1703636425GCKc.*481+9G= (n.*481+9G=)
c.483+9G= (n.483+9G=)
n.969+9G=
c.486+9G= (n.486+9G=)
c.480+9G= (n.480+9G=)
c.432+9G= (n.432+9G=)
7g.44150947C>TCA1703636426GCKc.*481+9G>A (n.*481+9G>A)
c.483+9G>A (n.483+9G>A)
n.969+9G>A
c.486+9G>A (n.486+9G>A)
c.480+9G>A (n.480+9G>A)
c.432+9G>A (n.432+9G>A)
 dbSNP
7g.44150948C>ACA2775231377GCKc.*481+8G>T (n.*481+8G>T)
c.483+8G>T (n.483+8G>T)
n.969+8G>T
c.486+8G>T (n.486+8G>T)
c.480+8G>T (n.480+8G>T)
c.432+8G>T (n.432+8G>T)
7g.44150948C=CA1703636428GCKc.*481+8G= (n.*481+8G=)
c.483+8G= (n.483+8G=)
n.969+8G=
c.486+8G= (n.486+8G=)
c.480+8G= (n.480+8G=)
c.432+8G= (n.432+8G=)
7g.44150948C>GCA1703636427GCKc.*481+8G>C (n.*481+8G>C)
c.483+8G>C (n.483+8G>C)
n.969+8G>C
c.486+8G>C (n.486+8G>C)
c.480+8G>C (n.480+8G>C)
c.432+8G>C (n.432+8G>C)
 dbSNP
7g.44150948C>TCA4239625GCKc.*481+8G>A (n.*481+8G>A)
c.483+8G>A (n.483+8G>A)
n.969+8G>A
c.486+8G>A (n.486+8G>A)
c.480+8G>A (n.480+8G>A)
c.432+8G>A (n.432+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150949_44150951dupCA2682575176GCKc.*481+6_*481+8dup (n.*481+6_*481+8dup)
c.483+6_483+8dup (n.483+6_483+8dup)
n.969+6_969+8dup
c.486+6_486+8dup (n.486+6_486+8dup)
c.480+6_480+8dup (n.480+6_480+8dup)
c.432+6_432+8dup (n.432+6_432+8dup)
 gnomAD v4
7g.44150949G>ACA4239626GCKc.*481+7C>T (n.*481+7C>T)
c.483+7C>T (n.483+7C>T)
n.969+7C>T
c.486+7C>T (n.486+7C>T)
c.480+7C>T (n.480+7C>T)
c.432+7C>T (n.432+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44150949G>CCA1100760687GCKc.*481+7C>G (n.*481+7C>G)
c.483+7C>G (n.483+7C>G)
n.969+7C>G
c.486+7C>G (n.486+7C>G)
c.480+7C>G (n.480+7C>G)
c.432+7C>G (n.432+7C>G)
 gnomAD v3 gnomAD v4
7g.44150949G=CA1703636429GCKc.*481+7C= (n.*481+7C=)
c.483+7C= (n.483+7C=)
n.969+7C=
c.486+7C= (n.486+7C=)
c.480+7C= (n.480+7C=)
c.432+7C= (n.432+7C=)
7g.44150949_44150950delCA2682575188GCKc.*481+6_*481+7del (n.*481+6_*481+7del)
c.483+6_483+7del (n.483+6_483+7del)
n.969+6_969+7del
c.486+6_486+7del (n.486+6_486+7del)
c.480+6_480+7del (n.480+6_480+7del)
c.432+6_432+7del (n.432+6_432+7del)
 gnomAD v4
7g.44150950G>CCA4239627GCKc.*481+6C>G (n.*481+6C>G)
c.483+6C>G (n.483+6C>G)
n.969+6C>G
c.486+6C>G (n.486+6C>G)
c.480+6C>G (n.480+6C>G)
c.432+6C>G (n.432+6C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44150950G=CA1703636430GCKc.*481+6C= (n.*481+6C=)
c.483+6C= (n.483+6C=)
n.969+6C=
c.486+6C= (n.486+6C=)
c.480+6C= (n.480+6C=)
c.432+6C= (n.432+6C=)
7g.44150953C=CA1703636431GCKc.*481+3G= (n.*481+3G=)
c.483+3G= (n.483+3G=)
n.969+3G=
c.486+3G= (n.486+3G=)
c.480+3G= (n.480+3G=)
c.432+3G= (n.432+3G=)
7g.44150953C>TCA573798233GCKc.*481+3G>A (n.*481+3G>A)
c.483+3G>A (n.483+3G>A)
n.969+3G>A
c.486+3G>A (n.486+3G>A)
c.480+3G>A (n.480+3G>A)
c.432+3G>A (n.432+3G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44150954_44150955delCA2695202950GCKc.*481+2_*481+3del (n.*481+2_*481+3del)
c.483+2_483+3del (n.483+2_483+3del)
n.969+2_969+3del
c.486+2_486+3del (n.486+2_486+3del)
c.480+2_480+3del (n.480+2_480+3del)
c.432+2_432+3del (n.432+2_432+3del)
7g.44150954A=CA1703636432GCKc.*481+2T= (n.*481+2T=)
c.483+2T= (n.483+2T=)
n.969+2T=
c.486+2T= (n.486+2T=)
c.480+2T= (n.480+2T=)
c.432+2T= (n.432+2T=)
7g.44150954A>CCA367401820GCKc.*481+2T>G (n.*481+2T>G)
c.483+2T>G (n.483+2T>G)
n.969+2T>G
c.486+2T>G (n.486+2T>G)
c.480+2T>G (n.480+2T>G)
c.432+2T>G (n.432+2T>G)
 gnomAD v3 gnomAD v4
7g.44150954A>GCA367401817GCKc.*481+2T>C (n.*481+2T>C)
c.483+2T>C (n.483+2T>C)
n.969+2T>C
c.486+2T>C (n.486+2T>C)
c.480+2T>C (n.480+2T>C)
c.432+2T>C (n.432+2T>C)
 ClinVar dbSNP gnomAD v4
7g.44150954A>TCA367401819GCKc.*481+2T>A (n.*481+2T>A)
c.483+2T>A (n.483+2T>A)
n.969+2T>A
c.486+2T>A (n.486+2T>A)
c.480+2T>A (n.480+2T>A)
c.432+2T>A (n.432+2T>A)
7g.44150955C>ACA367401822GCKc.*481+1G>T (n.*481+1G>T)
c.483+1G>T (n.483+1G>T)
n.969+1G>T
c.486+1G>T (n.486+1G>T)
c.480+1G>T (n.480+1G>T)
c.432+1G>T (n.432+1G>T)
7g.44150955C>GCA367401823GCKc.*481+1G>C (n.*481+1G>C)
c.483+1G>C (n.483+1G>C)
n.969+1G>C
c.486+1G>C (n.486+1G>C)
c.480+1G>C (n.480+1G>C)
c.432+1G>C (n.432+1G>C)
7g.44150955C>TCA367401825GCKc.*481+1G>A (n.*481+1G>A)
c.483+1G>A (n.483+1G>A)
n.969+1G>A
c.486+1G>A (n.486+1G>A)
c.480+1G>A (n.480+1G>A)
c.432+1G>A (n.432+1G>A)
 ClinVar
7g.44150956C>ACA367401826GCKc.*481G>T (n.*481G>T)
c.483G>T (p.Lys161Asn)
n.969G>T
c.486G>T (p.Lys162Asn)
c.480G>T (p.Lys160Asn)
c.432G>T (p.Lys144Asn)
7g.44150956C=CA1703636433GCKc.*481G= (n.*481G=)
c.483G= (p.Lys161=)
n.969G=
c.486G= (p.Lys162=)
c.480G= (p.Lys160=)
c.432G= (p.Lys144=)
7g.44150956C>GCA367401828GCKc.*481G>C (n.*481G>C)
c.483G>C (p.Lys161Asn)
n.969G>C
c.486G>C (p.Lys162Asn)
c.480G>C (p.Lys160Asn)
c.432G>C (p.Lys144Asn)
7g.44150956C>TCA213792GCKc.*481G>A (n.*481G>A)
c.483G>A (p.Lys161=)
n.969G>A
c.486G>A (p.Lys162=)
c.480G>A (p.Lys160=)
c.432G>A (p.Lys144=)
 ClinVar dbSNP
7g.44150957T>ACA367401830GCKc.*480A>T (n.*480A>T)
c.482A>T (p.Lys161Met)
n.968A>T
c.485A>T (p.Lys162Met)
c.479A>T (p.Lys160Met)
c.431A>T (p.Lys144Met)
7g.44150957T>CCA367401831GCKc.*480A>G (n.*480A>G)
c.482A>G (p.Lys161Arg)
n.968A>G
c.485A>G (p.Lys162Arg)
c.479A>G (p.Lys160Arg)
c.431A>G (p.Lys144Arg)
 ClinVar
7g.44150957T>GCA367401832GCKc.*480A>C (n.*480A>C)
c.482A>C (p.Lys161Thr)
n.968A>C
c.485A>C (p.Lys162Thr)
c.479A>C (p.Lys160Thr)
c.431A>C (p.Lys144Thr)
7g.44150958_44150960dupCA2695202952GCKc.*478_*480dup (n.*478_*480dup)
c.480_482dup (p.Asp160_Lys161insAsn)
n.966_968dup
c.483_485dup (p.Asp161_Lys162insAsn)
c.477_479dup (p.Asp159_Lys160insAsn)
c.429_431dup (p.Asp143_Lys144insAsn)
7g.44150958T>ACA367401837GCKc.*479A>T (n.*479A>T)
c.481A>T (p.Lys161Ter)
n.967A>T
c.484A>T (p.Lys162Ter)
c.478A>T (p.Lys160Ter)
c.430A>T (p.Lys144Ter)
 ClinVar
7g.44150958T>CCA367401836GCKc.*479A>G (n.*479A>G)
c.481A>G (p.Lys161Glu)
n.967A>G
c.484A>G (p.Lys162Glu)
c.478A>G (p.Lys160Glu)
c.430A>G (p.Lys144Glu)
7g.44150958T>GCA367401834GCKc.*479A>C (n.*479A>C)
c.481A>C (p.Lys161Gln)
n.967A>C
c.484A>C (p.Lys162Gln)
c.478A>C (p.Lys160Gln)
c.430A>C (p.Lys144Gln)
7g.44150959A=CA1703636434GCKc.*478T= (n.*478T=)
c.480T= (p.Asp160=)
n.966T=
c.483T= (p.Asp161=)
c.477T= (p.Asp159=)
c.429T= (p.Asp143=)
7g.44150959A>CCA367401839GCKc.*478T>G (n.*478T>G)
c.480T>G (p.Asp160Glu)
n.966T>G
c.483T>G (p.Asp161Glu)
c.477T>G (p.Asp159Glu)
c.429T>G (p.Asp143Glu)
7g.44150959A>GCA454609688GCKc.*478T>C (n.*478T>C)
c.480T>C (p.Asp160=)
n.966T>C
c.483T>C (p.Asp161=)
c.477T>C (p.Asp159=)
c.429T>C (p.Asp143=)
 dbSNP gnomAD v4
7g.44150959A>TCA367401841GCKc.*478T>A (n.*478T>A)
c.480T>A (p.Asp160Glu)
n.966T>A
c.483T>A (p.Asp161Glu)
c.477T>A (p.Asp159Glu)
c.429T>A (p.Asp143Glu)
7g.44150960T>ACA367401842GCKc.*477A>T (n.*477A>T)
c.479A>T (p.Asp160Val)
n.965A>T
c.482A>T (p.Asp161Val)
c.476A>T (p.Asp159Val)
c.428A>T (p.Asp143Val)
7g.44150960T>CCA367401844GCKc.*477A>G (n.*477A>G)
c.479A>G (p.Asp160Gly)
n.965A>G
c.482A>G (p.Asp161Gly)
c.476A>G (p.Asp159Gly)
c.428A>G (p.Asp143Gly)
7g.44150960T>GCA367401845GCKc.*477A>C (n.*477A>C)
c.479A>C (p.Asp160Ala)
n.965A>C
c.482A>C (p.Asp161Ala)
c.476A>C (p.Asp159Ala)
c.428A>C (p.Asp143Ala)
7g.44150961C>ACA367401847GCKc.*476G>T (n.*476G>T)
c.478G>T (p.Asp160Tyr)
n.964G>T
c.481G>T (p.Asp161Tyr)
c.475G>T (p.Asp159Tyr)
c.427G>T (p.Asp143Tyr)
 gnomAD v4
7g.44150961C=CA1703636435GCKc.*476G= (n.*476G=)
c.478G= (p.Asp160=)
n.964G=
c.481G= (p.Asp161=)
c.475G= (p.Asp159=)
c.427G= (p.Asp143=)
7g.44150961C>GCA367401848GCKc.*476G>C (n.*476G>C)
c.478G>C (p.Asp160His)
n.964G>C
c.481G>C (p.Asp161His)
c.475G>C (p.Asp159His)
c.427G>C (p.Asp143His)
 ClinVar
7g.44150961C>TCA367401849GCKc.*476G>A (n.*476G>A)
c.478G>A (p.Asp160Asn)
n.964G>A
c.481G>A (p.Asp161Asn)
c.475G>A (p.Asp159Asn)
c.427G>A (p.Asp143Asn)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
7g.44150962G>ACA454609695GCKc.*475C>T (n.*475C>T)
c.477C>T (p.Ile159=)
n.963C>T
c.480C>T (p.Ile160=)
c.474C>T (p.Ile158=)
c.426C>T (p.Ile142=)
 gnomAD v4 COSMIC COSMIC COSMIC
7g.44150962G>CCA367401851GCKc.*475C>G (n.*475C>G)
c.477C>G (p.Ile159Met)
n.963C>G
c.480C>G (p.Ile160Met)
c.474C>G (p.Ile158Met)
c.426C>G (p.Ile142Met)
 ClinVar dbSNP
7g.44150962G=CA1703636436GCKc.*475C= (n.*475C=)
c.477C= (p.Ile159=)
n.963C=
c.480C= (p.Ile160=)
c.474C= (p.Ile158=)
c.426C= (p.Ile142=)
7g.44150962G>TCA454609696GCKc.*475C>A (n.*475C>A)
c.477C>A (p.Ile159=)
n.963C>A
c.480C>A (p.Ile160=)
c.474C>A (p.Ile158=)
c.426C>A (p.Ile142=)
 dbSNP gnomAD v4
7g.44150963A>CCA367401853GCKc.*474T>G (n.*474T>G)
c.476T>G (p.Ile159Ser)
n.962T>G
c.479T>G (p.Ile160Ser)
c.473T>G (p.Ile158Ser)
c.425T>G (p.Ile142Ser)
7g.44150963A>GCA367401855GCKc.*474T>C (n.*474T>C)
c.476T>C (p.Ile159Thr)
n.962T>C
c.479T>C (p.Ile160Thr)
c.473T>C (p.Ile158Thr)
c.425T>C (p.Ile142Thr)
 ClinVar
7g.44150963A>TCA367401856GCKc.*474T>A (n.*474T>A)
c.476T>A (p.Ile159Asn)
n.962T>A
c.479T>A (p.Ile160Asn)
c.473T>A (p.Ile158Asn)
c.425T>A (p.Ile142Asn)
 ClinVar
7g.44150964T>ACA367401858GCKc.*473A>T (n.*473A>T)
c.475A>T (p.Ile159Phe)
n.961A>T
c.478A>T (p.Ile160Phe)
c.472A>T (p.Ile158Phe)
c.424A>T (p.Ile142Phe)
7g.44150964T>CCA367401860GCKc.*473A>G (n.*473A>G)
c.475A>G (p.Ile159Val)
n.961A>G
c.478A>G (p.Ile160Val)
c.472A>G (p.Ile158Val)
c.424A>G (p.Ile142Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44150964T>GCA367401857GCKc.*473A>C (n.*473A>C)
c.475A>C (p.Ile159Leu)
n.961A>C
c.478A>C (p.Ile160Leu)
c.472A>C (p.Ile158Leu)
c.424A>C (p.Ile142Leu)
7g.44150964T=CA1703636437GCKc.*473A= (n.*473A=)
c.475A= (p.Ile159=)
n.961A=
c.478A= (p.Ile160=)
c.472A= (p.Ile158=)
c.424A= (p.Ile142=)
7g.44150965G>ACA454609702GCKc.*472C>T (n.*472C>T)
c.474C>T (p.Asp158=)
n.960C>T
c.477C>T (p.Asp159=)
c.471C>T (p.Asp157=)
c.423C>T (p.Asp141=)
7g.44150965G>CCA367401862GCKc.*472C>G (n.*472C>G)
c.474C>G (p.Asp158Glu)
n.960C>G
c.477C>G (p.Asp159Glu)
c.471C>G (p.Asp157Glu)
c.423C>G (p.Asp141Glu)
7g.44150965G=CA1703636438GCKc.*472C= (n.*472C=)
c.474C= (p.Asp158=)
n.960C=
c.477C= (p.Asp159=)
c.471C= (p.Asp157=)
c.423C= (p.Asp141=)
7g.44150965G>TCA367401863GCKc.*472C>A (n.*472C>A)
c.474C>A (p.Asp158Glu)
n.960C>A
c.477C>A (p.Asp159Glu)
c.471C>A (p.Asp157Glu)
c.423C>A (p.Asp141Glu)
 dbSNP gnomAD v4
7g.44150966T>ACA367401865GCKc.*471A>T (n.*471A>T)
c.473A>T (p.Asp158Val)
n.959A>T
c.476A>T (p.Asp159Val)
c.470A>T (p.Asp157Val)
c.422A>T (p.Asp141Val)
7g.44150966T>CCA367401866GCKc.*471A>G (n.*471A>G)
c.473A>G (p.Asp158Gly)
n.959A>G
c.476A>G (p.Asp159Gly)
c.470A>G (p.Asp157Gly)
c.422A>G (p.Asp141Gly)
7g.44150966T>GCA367401867GCKc.*471A>C (n.*471A>C)
c.473A>C (p.Asp158Ala)
n.959A>C
c.476A>C (p.Asp159Ala)
c.470A>C (p.Asp157Ala)
c.422A>C (p.Asp141Ala)
7g.44150967C>ACA367401869GCKc.*470G>T (n.*470G>T)
c.472G>T (p.Asp158Tyr)
n.958G>T
c.475G>T (p.Asp159Tyr)
c.469G>T (p.Asp157Tyr)
c.421G>T (p.Asp141Tyr)
 gnomAD v4
7g.44150967C>GCA367401871GCKc.*470G>C (n.*470G>C)
c.472G>C (p.Asp158His)
n.958G>C
c.475G>C (p.Asp159His)
c.469G>C (p.Asp157His)
c.421G>C (p.Asp141His)
 gnomAD v4
7g.44150967C>TCA367401872GCKc.*470G>A (n.*470G>A)
c.472G>A (p.Asp158Asn)
n.958G>A
c.475G>A (p.Asp159Asn)
c.469G>A (p.Asp157Asn)
c.421G>A (p.Asp141Asn)
7g.44150968T>ACA367401874GCKc.*469A>T (n.*469A>T)
c.471A>T (p.Glu157Asp)
n.957A>T
c.474A>T (p.Glu158Asp)
c.468A>T (p.Glu156Asp)
c.420A>T (p.Glu140Asp)
7g.44150968T>CCA454609707GCKc.*469A>G (n.*469A>G)
c.471A>G (p.Glu157=)
n.957A>G
c.474A>G (p.Glu158=)
c.468A>G (p.Glu156=)
c.420A>G (p.Glu140=)
7g.44150968T>GCA367401875GCKc.*469A>C (n.*469A>C)
c.471A>C (p.Glu157Asp)
n.957A>C
c.474A>C (p.Glu158Asp)
c.468A>C (p.Glu156Asp)
c.420A>C (p.Glu140Asp)
7g.44150969T>ACA367401876GCKc.*468A>T (n.*468A>T)
c.470A>T (p.Glu157Val)
n.956A>T
c.473A>T (p.Glu158Val)
c.467A>T (p.Glu156Val)
c.419A>T (p.Glu140Val)
7g.44150969T>CCA367401877GCKc.*468A>G (n.*468A>G)
c.470A>G (p.Glu157Gly)
n.956A>G
c.473A>G (p.Glu158Gly)
c.467A>G (p.Glu156Gly)
c.419A>G (p.Glu140Gly)
7g.44150969T>GCA367401879GCKc.*468A>C (n.*468A>C)
c.470A>C (p.Glu157Ala)
n.956A>C
c.473A>C (p.Glu158Ala)
c.467A>C (p.Glu156Ala)
c.419A>C (p.Glu140Ala)
7g.44150970C>ACA367401883GCKc.*467G>T (n.*467G>T)
c.469G>T (p.Glu157Ter)
n.955G>T
c.472G>T (p.Glu158Ter)
c.466G>T (p.Glu156Ter)
c.418G>T (p.Glu140Ter)
 ClinVar
7g.44150970C=CA1703636439GCKc.*467G= (n.*467G=)
c.469G= (p.Glu157=)
n.955G=
c.472G= (p.Glu158=)
c.466G= (p.Glu156=)
c.418G= (p.Glu140=)
7g.44150970C>GCA367401882GCKc.*467G>C (n.*467G>C)
c.469G>C (p.Glu157Gln)
n.955G>C
c.472G>C (p.Glu158Gln)
c.466G>C (p.Glu156Gln)
c.418G>C (p.Glu140Gln)
7g.44150970C>TCA367401880GCKc.*467G>A (n.*467G>A)
c.469G>A (p.Glu157Lys)
n.955G>A
c.472G>A (p.Glu158Lys)
c.466G>A (p.Glu156Lys)
c.418G>A (p.Glu140Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
7g.44150971delCA2580077133GCKc.*466del (n.*466del)
c.468del (p.His156GlnfsTer?)
n.954del
c.471del (p.His157GlnfsTer?)
c.465del (p.His155GlnfsTer?)
c.417del (p.His139GlnfsTer?)
 ClinVar
7g.44150971G>ACA4239628GCKc.*466C>T (n.*466C>T)
c.468C>T (p.His156=)
n.954C>T
c.471C>T (p.His157=)
c.465C>T (p.His155=)
c.417C>T (p.His139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44150971G>CCA367401885GCKc.*466C>G (n.*466C>G)
c.468C>G (p.His156Gln)
n.954C>G
c.471C>G (p.His157Gln)
c.465C>G (p.His155Gln)
c.417C>G (p.His139Gln)
 COSMIC COSMIC COSMIC
7g.44150971G=CA1703636440GCKc.*466C= (n.*466C=)
c.468C= (p.His156=)
n.954C=
c.471C= (p.His157=)
c.465C= (p.His155=)
c.417C= (p.His139=)
7g.44150971G>TCA367401887GCKc.*466C>A (n.*466C>A)
c.468C>A (p.His156Gln)
n.954C>A
c.471C>A (p.His157Gln)
c.465C>A (p.His155Gln)
c.417C>A (p.His139Gln)
7g.44150972T>ACA367401888GCKc.*465A>T (n.*465A>T)
c.467A>T (p.His156Leu)
n.953A>T
c.470A>T (p.His157Leu)
c.464A>T (p.His155Leu)
c.416A>T (p.His139Leu)
7g.44150972T>CCA367401890GCKc.*465A>G (n.*465A>G)
c.467A>G (p.His156Arg)
n.953A>G
c.470A>G (p.His157Arg)
c.464A>G (p.His155Arg)
c.416A>G (p.His139Arg)
7g.44150972T>GCA367401891GCKc.*465A>C (n.*465A>C)
c.467A>C (p.His156Pro)
n.953A>C
c.470A>C (p.His157Pro)
c.464A>C (p.His155Pro)
c.416A>C (p.His139Pro)
7g.44150973G>ACA367401892GCKc.*464C>T (n.*464C>T)
c.466C>T (p.His156Tyr)
n.952C>T
c.469C>T (p.His157Tyr)
c.463C>T (p.His155Tyr)
c.415C>T (p.His139Tyr)
 ClinVar dbSNP
7g.44150973G>CCA367401894GCKc.*464C>G (n.*464C>G)
c.466C>G (p.His156Asp)
n.952C>G
c.469C>G (p.His157Asp)
c.463C>G (p.His155Asp)
c.415C>G (p.His139Asp)
 ClinVar
7g.44150973G=CA1703636441GCKc.*464C= (n.*464C=)
c.466C= (p.His156=)
n.952C=
c.469C= (p.His157=)
c.463C= (p.His155=)
c.415C= (p.His139=)
7g.44150973G>TCA367401895GCKc.*464C>A (n.*464C>A)
c.466C>A (p.His156Asn)
n.952C>A
c.469C>A (p.His157Asn)
c.463C>A (p.His155Asn)
c.415C>A (p.His139Asn)
7g.44150974C>ACA367401896GCKc.*463G>T (n.*463G>T)
c.465G>T (p.Arg155Ser)
n.951G>T
c.468G>T (p.Arg156Ser)
c.462G>T (p.Arg154Ser)
c.414G>T (p.Arg138Ser)
 ClinVar
7g.44150974C=CA1703636442GCKc.*463G= (n.*463G=)
c.465G= (p.Arg155=)
n.951G=
c.468G= (p.Arg156=)
c.462G= (p.Arg154=)
c.414G= (p.Arg138=)
7g.44150974C>GCA367401898GCKc.*463G>C (n.*463G>C)
c.465G>C (p.Arg155Ser)
n.951G>C
c.468G>C (p.Arg156Ser)
c.462G>C (p.Arg154Ser)
c.414G>C (p.Arg138Ser)
7g.44150974C>TCA4239629GCKc.*463G>A (n.*463G>A)
c.465G>A (p.Arg155=)
n.951G>A
c.468G>A (p.Arg156=)
c.462G>A (p.Arg154=)
c.414G>A (p.Arg138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44150975C>ACA367401903GCKc.*462G>T (n.*462G>T)
c.464G>T (p.Arg155Met)
n.950G>T
c.467G>T (p.Arg156Met)
c.461G>T (p.Arg154Met)
c.413G>T (p.Arg138Met)
7g.44150975C=CA1703636443GCKc.*462G= (n.*462G=)
c.464G= (p.Arg155=)
n.950G=
c.467G= (p.Arg156=)
c.461G= (p.Arg154=)
c.413G= (p.Arg138=)
7g.44150975C>GCA367401902GCKc.*462G>C (n.*462G>C)
c.464G>C (p.Arg155Thr)
n.950G>C
c.467G>C (p.Arg156Thr)
c.461G>C (p.Arg154Thr)
c.413G>C (p.Arg138Thr)
 ClinVar dbSNP
7g.44150975C>TCA367401900GCKc.*462G>A (n.*462G>A)
c.464G>A (p.Arg155Lys)
n.950G>A
c.467G>A (p.Arg156Lys)
c.461G>A (p.Arg154Lys)
c.413G>A (p.Arg138Lys)
7g.44150976T>ACA367401904GCKc.*461A>T (n.*461A>T)
c.463A>T (p.Arg155Trp)
n.949A>T
c.466A>T (p.Arg156Trp)
c.460A>T (p.Arg154Trp)
c.412A>T (p.Arg138Trp)
7g.44150976T>CCA213790GCKc.*461A>G (n.*461A>G)
c.463A>G (p.Arg155Gly)
n.949A>G
c.466A>G (p.Arg156Gly)
c.460A>G (p.Arg154Gly)
c.412A>G (p.Arg138Gly)
 ClinVar dbSNP
7g.44150976T>GCA454609732GCKc.*461A>C (n.*461A>C)
c.463A>C (p.Arg155=)
n.949A>C
c.466A>C (p.Arg156=)
c.460A>C (p.Arg154=)
c.412A>C (p.Arg138=)
7g.44150976T=CA1703636444GCKc.*461A= (n.*461A=)
c.463A= (p.Arg155=)
n.949A=
c.466A= (p.Arg156=)
c.460A= (p.Arg154=)
c.412A= (p.Arg138=)
7g.44150977C>ACA454609734GCKc.*460G>T (n.*460G>T)
c.462G>T (p.Val154=)
n.948G>T
c.465G>T (p.Val155=)
c.459G>T (p.Val153=)
c.411G>T (p.Val137=)
 gnomAD v4
7g.44150977C>GCA454609735GCKc.*460G>C (n.*460G>C)
c.462G>C (p.Val154=)
n.948G>C
c.465G>C (p.Val155=)
c.459G>C (p.Val153=)
c.411G>C (p.Val137=)
7g.44150977C>TCA454609736GCKc.*460G>A (n.*460G>A)
c.462G>A (p.Val154=)
n.948G>A
c.465G>A (p.Val155=)
c.459G>A (p.Val153=)
c.411G>A (p.Val137=)
7g.44150979_44150980delCA2695202955GCKc.*459_*460del (n.*459_*460del)
c.461_462del (p.Val154GlufsTer7)
n.947_948del
c.464_465del (p.Val155GlufsTer7)
c.458_459del (p.Val153GlufsTer7)
c.410_411del (p.Val137GlufsTer7)
7g.44150978A>CCA367401907GCKc.*459T>G (n.*459T>G)
c.461T>G (p.Val154Gly)
n.947T>G
c.464T>G (p.Val155Gly)
c.458T>G (p.Val153Gly)
c.410T>G (p.Val137Gly)
 ClinVar
7g.44150978A>GCA367401909GCKc.*459T>C (n.*459T>C)
c.461T>C (p.Val154Ala)
n.947T>C
c.464T>C (p.Val155Ala)
c.458T>C (p.Val153Ala)
c.410T>C (p.Val137Ala)
 ClinVar gnomAD v4
7g.44150978A>TCA367401908GCKc.*459T>A (n.*459T>A)
c.461T>A (p.Val154Glu)
n.947T>A
c.464T>A (p.Val155Glu)
c.458T>A (p.Val153Glu)
c.410T>A (p.Val137Glu)
7g.44150979C>ACA367401912GCKc.*458G>T (n.*458G>T)
c.460G>T (p.Val154Leu)
n.946G>T
c.463G>T (p.Val155Leu)
c.457G>T (p.Val153Leu)
c.409G>T (p.Val137Leu)
7g.44150979C=CA1703636445GCKc.*458G= (n.*458G=)
c.460G= (p.Val154=)
n.946G=
c.463G= (p.Val155=)
c.457G= (p.Val153=)
c.409G= (p.Val137=)
7g.44150979C>GCA4239630GCKc.*458G>C (n.*458G>C)
c.460G>C (p.Val154Leu)
n.946G>C
c.463G>C (p.Val155Leu)
c.457G>C (p.Val153Leu)
c.409G>C (p.Val137Leu)
 dbSNP ExAC gnomAD v2
7g.44150979C>TCA367401913GCKc.*458G>A (n.*458G>A)
c.460G>A (p.Val154Met)
n.946G>A
c.463G>A (p.Val155Met)
c.457G>A (p.Val153Met)
c.409G>A (p.Val137Met)
7g.44150980A=CA1703636446GCKc.*457T= (n.*457T=)
c.459T= (p.Pro153=)
n.945T=
c.462T= (p.Pro154=)
c.456T= (p.Pro152=)
c.408T= (p.Pro136=)
7g.44150980A>CCA454609740GCKc.*457T>G (n.*457T>G)
c.459T>G (p.Pro153=)
n.945T>G
c.462T>G (p.Pro154=)
c.456T>G (p.Pro152=)
c.408T>G (p.Pro136=)
7g.44150980A>GCA454609741GCKc.*457T>C (n.*457T>C)
c.459T>C (p.Pro153=)
n.945T>C
c.462T>C (p.Pro154=)
c.456T>C (p.Pro152=)
c.408T>C (p.Pro136=)
 dbSNP
7g.44150980A>TCA454609744GCKc.*457T>A (n.*457T>A)
c.459T>A (p.Pro153=)
n.945T>A
c.462T>A (p.Pro154=)
c.456T>A (p.Pro152=)
c.408T>A (p.Pro136=)
7g.44150981G>ACA367401915GCKc.*456C>T (n.*456C>T)
c.458C>T (p.Pro153Leu)
n.944C>T
c.461C>T (p.Pro154Leu)
c.455C>T (p.Pro152Leu)
c.407C>T (p.Pro136Leu)
7g.44150981G>CCA367401916GCKc.*456C>G (n.*456C>G)
c.458C>G (p.Pro153Arg)
n.944C>G
c.461C>G (p.Pro154Arg)
c.455C>G (p.Pro152Arg)
c.407C>G (p.Pro136Arg)
7g.44150981G>TCA367401917GCKc.*456C>A (n.*456C>A)
c.458C>A (p.Pro153His)
n.944C>A
c.461C>A (p.Pro154His)
c.455C>A (p.Pro152His)
c.407C>A (p.Pro136His)
 ClinVar
7g.44150982G>ACA213788GCKc.*455C>T (n.*455C>T)
c.457C>T (p.Pro153Ser)
n.943C>T
c.460C>T (p.Pro154Ser)
c.454C>T (p.Pro152Ser)
c.406C>T (p.Pro136Ser)
 ClinVar dbSNP
7g.44150982G>CCA367401918GCKc.*455C>G (n.*455C>G)
c.457C>G (p.Pro153Ala)
n.943C>G
c.460C>G (p.Pro154Ala)
c.454C>G (p.Pro152Ala)
c.406C>G (p.Pro136Ala)
7g.44150982G=CA1703636447GCKc.*455C= (n.*455C=)
c.457C= (p.Pro153=)
n.943C=
c.460C= (p.Pro154=)
c.454C= (p.Pro152=)
c.406C= (p.Pro136=)
7g.44150982G>TCA367401919GCKc.*455C>A (n.*455C>A)
c.457C>A (p.Pro153Thr)
n.943C>A
c.460C>A (p.Pro154Thr)
c.454C>A (p.Pro152Thr)
c.406C>A (p.Pro136Thr)
7g.44150983A>CCA367401920GCKc.*454T>G (n.*454T>G)
c.456T>G (p.Phe152Leu)
n.942T>G
c.459T>G (p.Phe153Leu)
c.453T>G (p.Phe151Leu)
c.405T>G (p.Phe135Leu)
 COSMIC COSMIC COSMIC
7g.44150983A>GCA454609755GCKc.*454T>C (n.*454T>C)
c.456T>C (p.Phe152=)
n.942T>C
c.459T>C (p.Phe153=)
c.453T>C (p.Phe151=)
c.405T>C (p.Phe135=)
7g.44150983A>TCA367401922GCKc.*454T>A (n.*454T>A)
c.456T>A (p.Phe152Leu)
n.942T>A
c.459T>A (p.Phe153Leu)
c.453T>A (p.Phe151Leu)
c.405T>A (p.Phe135Leu)
7g.44150984A>CCA367401924GCKc.*453T>G (n.*453T>G)
c.455T>G (p.Phe152Cys)
n.941T>G
c.458T>G (p.Phe153Cys)
c.452T>G (p.Phe151Cys)
c.404T>G (p.Phe135Cys)
7g.44150984A>GCA367401925GCKc.*453T>C (n.*453T>C)
c.455T>C (p.Phe152Ser)
n.941T>C
c.458T>C (p.Phe153Ser)
c.452T>C (p.Phe151Ser)
c.404T>C (p.Phe135Ser)
 ClinVar
7g.44150984A>TCA367401927GCKc.*453T>A (n.*453T>A)
c.455T>A (p.Phe152Tyr)
n.941T>A
c.458T>A (p.Phe153Tyr)
c.452T>A (p.Phe151Tyr)
c.404T>A (p.Phe135Tyr)
7g.44150985A=CA1703636448GCKc.*452T= (n.*452T=)
c.454T= (p.Phe152=)
n.940T=
c.457T= (p.Phe153=)
c.451T= (p.Phe151=)
c.403T= (p.Phe135=)
7g.44150985A>CCA367401931GCKc.*452T>G (n.*452T>G)
c.454T>G (p.Phe152Val)
n.940T>G
c.457T>G (p.Phe153Val)
c.451T>G (p.Phe151Val)
c.403T>G (p.Phe135Val)
7g.44150985A>GCA367401929GCKc.*452T>C (n.*452T>C)
c.454T>C (p.Phe152Leu)
n.940T>C
c.457T>C (p.Phe153Leu)
c.451T>C (p.Phe151Leu)
c.403T>C (p.Phe135Leu)
 ClinVar dbSNP
7g.44150985A>TCA367401928GCKc.*452T>A (n.*452T>A)
c.454T>A (p.Phe152Ile)
n.940T>A
c.457T>A (p.Phe153Ile)
c.451T>A (p.Phe151Ile)
c.403T>A (p.Phe135Ile)
 ClinVar
7g.44150987_44150989delCA2695202957GCKc.*450_*452del (n.*450_*452del)
c.452_454del (p.Ser151del)
n.938_940del
c.455_457del (p.Ser152del)
c.449_451del (p.Ser150del)
c.401_403del (p.Ser134del)
7g.44150986G>ACA454609766GCKc.*451C>T (n.*451C>T)
c.453C>T (p.Ser151=)
n.939C>T
c.456C>T (p.Ser152=)
c.450C>T (p.Ser150=)
c.402C>T (p.Ser134=)
7g.44150986G>CCA454609765GCKc.*451C>G (n.*451C>G)
c.453C>G (p.Ser151=)
n.939C>G
c.456C>G (p.Ser152=)
c.450C>G (p.Ser150=)
c.402C>G (p.Ser134=)
7g.44150986G>TCA454609764GCKc.*451C>A (n.*451C>A)
c.453C>A (p.Ser151=)
n.939C>A
c.456C>A (p.Ser152=)
c.450C>A (p.Ser150=)
c.402C>A (p.Ser134=)
7g.44150986_44150987delCA2695202958GCKc.*450_*451del (n.*450_*451del)
c.452_453del (p.Ser151PhefsTer10)
n.938_939del
c.455_456del (p.Ser152PhefsTer10)
c.449_450del (p.Ser150PhefsTer10)
c.401_402del (p.Ser134PhefsTer10)
7g.44150987G>ACA367401932GCKc.*450C>T (n.*450C>T)
c.452C>T (p.Ser151Phe)
n.938C>T
c.455C>T (p.Ser152Phe)
c.449C>T (p.Ser150Phe)
c.401C>T (p.Ser134Phe)
7g.44150987G>CCA367401934GCKc.*450C>G (n.*450C>G)
c.452C>G (p.Ser151Cys)
n.938C>G
c.455C>G (p.Ser152Cys)
c.449C>G (p.Ser150Cys)
c.401C>G (p.Ser134Cys)
7g.44150987G>TCA367401935GCKc.*450C>A (n.*450C>A)
c.452C>A (p.Ser151Tyr)
n.938C>A
c.455C>A (p.Ser152Tyr)
c.449C>A (p.Ser150Tyr)
c.401C>A (p.Ser134Tyr)
 ClinVar dbSNP
7g.44150989_44150990delCA2695202959GCKc.*449_*450del (n.*449_*450del)
c.451_452del (p.Ser151LeufsTer10)
n.937_938del
c.454_455del (p.Ser152LeufsTer10)
c.448_449del (p.Ser150LeufsTer10)
c.400_401del (p.Ser134LeufsTer10)
7g.44150988A>CCA367401937GCKc.*449T>G (n.*449T>G)
c.451T>G (p.Ser151Ala)
n.937T>G
c.454T>G (p.Ser152Ala)
c.448T>G (p.Ser150Ala)
c.400T>G (p.Ser134Ala)
7g.44150988A>GCA367401938GCKc.*449T>C (n.*449T>C)
c.451T>C (p.Ser151Pro)
n.937T>C
c.454T>C (p.Ser152Pro)
c.448T>C (p.Ser150Pro)
c.400T>C (p.Ser134Pro)
 ClinVar gnomAD v4
7g.44150988A>TCA367401940GCKc.*449T>A (n.*449T>A)
c.451T>A (p.Ser151Thr)
n.937T>A
c.454T>A (p.Ser152Thr)
c.448T>A (p.Ser150Thr)
c.400T>A (p.Ser134Thr)
7g.44150990_44150992delCA2580612107GCKc.*447_*449del (n.*447_*449del)
c.449_451del (p.Phe150del)
n.935_937del
c.452_454del (p.Phe151del)
c.446_448del (p.Phe149del)
c.398_400del (p.Phe133del)
 ClinVar
7g.44150989G>ACA213786GCKc.*448C>T (n.*448C>T)
c.450C>T (p.Phe150=)
n.936C>T
c.453C>T (p.Phe151=)
c.447C>T (p.Phe149=)
c.399C>T (p.Phe133=)
 ClinVar dbSNP gnomAD v4
7g.44150989G>CCA367401941GCKc.*448C>G (n.*448C>G)
c.450C>G (p.Phe150Leu)
n.936C>G
c.453C>G (p.Phe151Leu)
c.447C>G (p.Phe149Leu)
c.399C>G (p.Phe133Leu)
7g.44150989G=CA1703636449GCKc.*448C= (n.*448C=)
c.450C= (p.Phe150=)
n.936C=
c.453C= (p.Phe151=)
c.447C= (p.Phe149=)
c.399C= (p.Phe133=)
7g.44150989G>TCA367401942GCKc.*448C>A (n.*448C>A)
c.450C>A (p.Phe150Leu)
n.936C>A
c.453C>A (p.Phe151Leu)
c.447C>A (p.Phe149Leu)
c.399C>A (p.Phe133Leu)
 ClinVar COSMIC COSMIC COSMIC
7g.44150990A=CA1703636450GCKc.*447T= (n.*447T=)
c.449T= (p.Phe150=)
n.935T=
c.452T= (p.Phe151=)
c.446T= (p.Phe149=)
c.398T= (p.Phe133=)
7g.44150990A>CCA367401943GCKc.*447T>G (n.*447T>G)
c.449T>G (p.Phe150Cys)
n.935T>G
c.452T>G (p.Phe151Cys)
c.446T>G (p.Phe149Cys)
c.398T>G (p.Phe133Cys)
7g.44150990A>GCA213784GCKc.*447T>C (n.*447T>C)
c.449T>C (p.Phe150Ser)
n.935T>C
c.452T>C (p.Phe151Ser)
c.446T>C (p.Phe149Ser)
c.398T>C (p.Phe133Ser)
 ClinVar dbSNP gnomAD v4
7g.44150990A>TCA231135GCKc.*447T>A (n.*447T>A)
c.449T>A (p.Phe150Tyr)
n.935T>A
c.452T>A (p.Phe151Tyr)
c.446T>A (p.Phe149Tyr)
c.398T>A (p.Phe133Tyr)
 ClinVar dbSNP
7g.44150991A>CCA367401949GCKc.*446T>G (n.*446T>G)
c.448T>G (p.Phe150Val)
n.934T>G
c.451T>G (p.Phe151Val)
c.445T>G (p.Phe149Val)
c.397T>G (p.Phe133Val)
 COSMIC COSMIC COSMIC
7g.44150991A>GCA367401948GCKc.*446T>C (n.*446T>C)
c.448T>C (p.Phe150Leu)
n.934T>C
c.451T>C (p.Phe151Leu)
c.445T>C (p.Phe149Leu)
c.397T>C (p.Phe133Leu)
 gnomAD v4
7g.44150991A>TCA367401946GCKc.*446T>A (n.*446T>A)
c.448T>A (p.Phe150Ile)
n.934T>A
c.451T>A (p.Phe151Ile)
c.445T>A (p.Phe149Ile)
c.397T>A (p.Phe133Ile)
7g.44150992G>ACA4239631GCKc.*445C>T (n.*445C>T)
c.447C>T (p.Thr149=)
n.933C>T
c.450C>T (p.Thr150=)
c.444C>T (p.Thr148=)
c.396C>T (p.Thr132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44150992G>CCA454609780GCKc.*445C>G (n.*445C>G)
c.447C>G (p.Thr149=)
n.933C>G
c.450C>G (p.Thr150=)
c.444C>G (p.Thr148=)
c.396C>G (p.Thr132=)
7g.44150992G=CA1703636451GCKc.*445C= (n.*445C=)
c.447C= (p.Thr149=)
n.933C=
c.450C= (p.Thr150=)
c.444C= (p.Thr148=)
c.396C= (p.Thr132=)
7g.44150992G>TCA454609781GCKc.*445C>A (n.*445C>A)
c.447C>A (p.Thr149=)
n.933C>A
c.450C>A (p.Thr150=)
c.444C>A (p.Thr148=)
c.396C>A (p.Thr132=)
7g.44150993G>ACA367401951GCKc.*444C>T (n.*444C>T)
c.446C>T (p.Thr149Ile)
n.932C>T
c.449C>T (p.Thr150Ile)
c.443C>T (p.Thr148Ile)
c.395C>T (p.Thr132Ile)
 dbSNP
7g.44150993G>CCA367401952GCKc.*444C>G (n.*444C>G)
c.446C>G (p.Thr149Ser)
n.932C>G
c.449C>G (p.Thr150Ser)
c.443C>G (p.Thr148Ser)
c.395C>G (p.Thr132Ser)
7g.44150993G>TCA367401954GCKc.*444C>A (n.*444C>A)
c.446C>A (p.Thr149Asn)
n.932C>A
c.449C>A (p.Thr150Asn)
c.443C>A (p.Thr148Asn)
c.395C>A (p.Thr132Asn)
7g.44150994T>ACA367401955GCKc.*443A>T (n.*443A>T)
c.445A>T (p.Thr149Ser)
n.931A>T
c.448A>T (p.Thr150Ser)
c.442A>T (p.Thr148Ser)
c.394A>T (p.Thr132Ser)
7g.44150994T>CCA367401956GCKc.*443A>G (n.*443A>G)
c.445A>G (p.Thr149Ala)
n.931A>G
c.448A>G (p.Thr150Ala)
c.442A>G (p.Thr148Ala)
c.394A>G (p.Thr132Ala)
7g.44150994T>GCA367401958GCKc.*443A>C (n.*443A>C)
c.445A>C (p.Thr149Pro)
n.931A>C
c.448A>C (p.Thr150Pro)
c.442A>C (p.Thr148Pro)
c.394A>C (p.Thr132Pro)
7g.44150994dupCA2580077137GCKc.*443dup (n.*443dup)
c.445dup (p.Thr149AsnfsTer13)
n.931dup
c.448dup (p.Thr150AsnfsTer13)
c.442dup (p.Thr148AsnfsTer13)
c.394dup (p.Thr132AsnfsTer13)
 ClinVar
7g.44150995G>ACA157918138GCKc.*442C>T (n.*442C>T)
c.444C>T (p.Phe148=)
n.930C>T
c.447C>T (p.Phe149=)
c.441C>T (p.Phe147=)
c.393C>T (p.Phe131=)
 dbSNP
7g.44150995G>CCA367401960GCKc.*442C>G (n.*442C>G)
c.444C>G (p.Phe148Leu)
n.930C>G
c.447C>G (p.Phe149Leu)
c.441C>G (p.Phe147Leu)
c.393C>G (p.Phe131Leu)
7g.44150995G=CA1703636452GCKc.*442C= (n.*442C=)
c.444C= (p.Phe148=)
n.930C=
c.447C= (p.Phe149=)
c.441C= (p.Phe147=)
c.393C= (p.Phe131=)
7g.44150995G>TCA367401961GCKc.*442C>A (n.*442C>A)
c.444C>A (p.Phe148Leu)
n.930C>A
c.447C>A (p.Phe149Leu)
c.441C>A (p.Phe147Leu)
c.393C>A (p.Phe131Leu)
7g.44150996A>CCA367401962GCKc.*441T>G (n.*441T>G)
c.443T>G (p.Phe148Cys)
n.929T>G
c.446T>G (p.Phe149Cys)
c.440T>G (p.Phe147Cys)
c.392T>G (p.Phe131Cys)
7g.44150996A>GCA367401964GCKc.*441T>C (n.*441T>C)
c.443T>C (p.Phe148Ser)
n.929T>C
c.446T>C (p.Phe149Ser)
c.440T>C (p.Phe147Ser)
c.392T>C (p.Phe131Ser)
 ClinVar
7g.44150996A>TCA367401965GCKc.*441T>A (n.*441T>A)
c.443T>A (p.Phe148Tyr)
n.929T>A
c.446T>A (p.Phe149Tyr)
c.440T>A (p.Phe147Tyr)
c.392T>A (p.Phe131Tyr)
7g.44150997A=CA1703636453GCKc.*440T= (n.*440T=)
c.442T= (p.Phe148=)
n.928T=
c.445T= (p.Phe149=)
c.439T= (p.Phe147=)
c.391T= (p.Phe131=)
7g.44150997A>CCA367401969GCKc.*440T>G (n.*440T>G)
c.442T>G (p.Phe148Val)
n.928T>G
c.445T>G (p.Phe149Val)
c.439T>G (p.Phe147Val)
c.391T>G (p.Phe131Val)
7g.44150997A>GCA367401968GCKc.*440T>C (n.*440T>C)
c.442T>C (p.Phe148Leu)
n.928T>C
c.445T>C (p.Phe149Leu)
c.439T>C (p.Phe147Leu)
c.391T>C (p.Phe131Leu)
 gnomAD v4
7g.44150997A>TCA367401967GCKc.*440T>A (n.*440T>A)
c.442T>A (p.Phe148Ile)
n.928T>A
c.445T>A (p.Phe149Ile)
c.439T>A (p.Phe147Ile)
c.391T>A (p.Phe131Ile)
 ClinVar dbSNP
7g.44150998G>ACA454609795GCKc.*439C>T (n.*439C>T)
c.441C>T (p.Gly147=)
n.927C>T
c.444C>T (p.Gly148=)
c.438C>T (p.Gly146=)
c.390C>T (p.Gly130=)
7g.44150998G>CCA454609797GCKc.*439C>G (n.*439C>G)
c.441C>G (p.Gly147=)
n.927C>G
c.444C>G (p.Gly148=)
c.438C>G (p.Gly146=)
c.390C>G (p.Gly130=)
7g.44150998G>TCA454609798GCKc.*439C>A (n.*439C>A)
c.441C>A (p.Gly147=)
n.927C>A
c.444C>A (p.Gly148=)
c.438C>A (p.Gly146=)
c.390C>A (p.Gly130=)
 gnomAD v4
7g.44150998_44150999delinsGCCA1703636454GCKc.*438_*439delinsGC (n.*438_*439delinsGC)
c.440_441delinsGC (p.Gly147=)
n.926_927delinsGC
c.443_444delinsGC (p.Gly148=)
c.437_438delinsGC (p.Gly146=)
c.389_390delinsGC (p.Gly130=)
7g.44150999C>ACA367401970GCKc.*438G>T (n.*438G>T)
c.440G>T (p.Gly147Val)
n.926G>T
c.443G>T (p.Gly148Val)
c.437G>T (p.Gly146Val)
c.389G>T (p.Gly130Val)
7g.44150999C=CA1703636455GCKc.*438G= (n.*438G=)
c.440G= (p.Gly147=)
n.926G=
c.443G= (p.Gly148=)
c.437G= (p.Gly146=)
c.389G= (p.Gly130=)
7g.44150999C>GCA367401971GCKc.*438G>C (n.*438G>C)
c.440G>C (p.Gly147Ala)
n.926G>C
c.443G>C (p.Gly148Ala)
c.437G>C (p.Gly146Ala)
c.389G>C (p.Gly130Ala)
7g.44150999C>TCA213782GCKc.*438G>A (n.*438G>A)
c.440G>A (p.Gly147Asp)
n.926G>A
c.443G>A (p.Gly148Asp)
c.437G>A (p.Gly146Asp)
c.389G>A (p.Gly130Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44151001delCA658655970GCKc.*438del (n.*438del)
c.440del (p.Gly147AlafsTer8)
n.926del
c.443del (p.Gly148AlafsTer8)
c.437del (p.Gly146AlafsTer8)
c.389del (p.Gly130AlafsTer8)
 ClinVar dbSNP
7g.44151000C>ACA367401973GCKc.*437G>T (n.*437G>T)
c.439G>T (p.Gly147Cys)
n.925G>T
c.442G>T (p.Gly148Cys)
c.436G>T (p.Gly146Cys)
c.388G>T (p.Gly130Cys)
 COSMIC COSMIC COSMIC
7g.44151000C>GCA367401974GCKc.*437G>C (n.*437G>C)
c.439G>C (p.Gly147Arg)
n.925G>C
c.442G>C (p.Gly148Arg)
c.436G>C (p.Gly146Arg)
c.388G>C (p.Gly130Arg)
7g.44151000C>TCA367401975GCKc.*437G>A (n.*437G>A)
c.439G>A (p.Gly147Ser)
n.925G>A
c.442G>A (p.Gly148Ser)
c.436G>A (p.Gly146Ser)
c.388G>A (p.Gly130Ser)
 gnomAD v4
7g.44151001C>ACA454609802GCKc.*436G>T (n.*436G>T)
c.438G>T (p.Leu146=)
n.924G>T
c.441G>T (p.Leu147=)
c.435G>T (p.Leu145=)
c.387G>T (p.Leu129=)
7g.44151001C=CA1703636456GCKc.*436G= (n.*436G=)
c.438G= (p.Leu146=)
n.924G=
c.441G= (p.Leu147=)
c.435G= (p.Leu145=)
c.387G= (p.Leu129=)
7g.44151001C>GCA454609803GCKc.*436G>C (n.*436G>C)
c.438G>C (p.Leu146=)
n.924G>C
c.441G>C (p.Leu147=)
c.435G>C (p.Leu145=)
c.387G>C (p.Leu129=)
7g.44151001C>TCA454609804GCKc.*436G>A (n.*436G>A)
c.438G>A (p.Leu146=)
n.924G>A
c.441G>A (p.Leu147=)
c.435G>A (p.Leu145=)
c.387G>A (p.Leu129=)
 dbSNP gnomAD v2 gnomAD v4
7g.44151002delCA2695202962GCKc.*435del (n.*435del)
c.437del (p.Leu146ArgfsTer9)
n.923del
c.440del (p.Leu147ArgfsTer9)
c.434del (p.Leu145ArgfsTer9)
c.386del (p.Leu129ArgfsTer9)
7g.44151002A=CA1703636457GCKc.*435T= (n.*435T=)
c.437T= (p.Leu146=)
n.923T=
c.440T= (p.Leu147=)
c.434T= (p.Leu145=)
c.386T= (p.Leu129=)
7g.44151002A>CCA367401977GCKc.*435T>G (n.*435T>G)
c.437T>G (p.Leu146Arg)
n.923T>G
c.440T>G (p.Leu147Arg)
c.434T>G (p.Leu145Arg)
c.386T>G (p.Leu129Arg)
 ClinVar
7g.44151002A>GCA367401978GCKc.*435T>C (n.*435T>C)
c.437T>C (p.Leu146Pro)
n.923T>C
c.440T>C (p.Leu147Pro)
c.434T>C (p.Leu145Pro)
c.386T>C (p.Leu129Pro)
 ClinVar dbSNP
7g.44151002A>TCA367401980GCKc.*435T>A (n.*435T>A)
c.437T>A (p.Leu146Gln)
n.923T>A
c.440T>A (p.Leu147Gln)
c.434T>A (p.Leu145Gln)
c.386T>A (p.Leu129Gln)
7g.44151003G>ACA454609808GCKc.*434C>T (n.*434C>T)
c.436C>T (p.Leu146=)
n.922C>T
c.439C>T (p.Leu147=)
c.433C>T (p.Leu145=)
c.385C>T (p.Leu129=)
 gnomAD v4
7g.44151003G>CCA367401981GCKc.*434C>G (n.*434C>G)
c.436C>G (p.Leu146Val)
n.922C>G
c.439C>G (p.Leu147Val)
c.433C>G (p.Leu145Val)
c.385C>G (p.Leu129Val)
7g.44151003G>TCA367401982GCKc.*434C>A (n.*434C>A)
c.436C>A (p.Leu146Met)
n.922C>A
c.439C>A (p.Leu147Met)
c.433C>A (p.Leu145Met)
c.385C>A (p.Leu129Met)
 COSMIC COSMIC COSMIC
7g.44151005_44151006dupCA16618469GCKc.*433_*434dup (n.*433_*434dup)
c.435_436dup (p.Leu146ProfsTer10)
n.921_922dup
c.438_439dup (p.Leu147ProfsTer10)
c.432_433dup (p.Leu145ProfsTer10)
c.384_385dup (p.Leu129ProfsTer10)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44151004G>ACA4239633GCKc.*433C>T (n.*433C>T)
c.435C>T (p.Pro145=)
n.921C>T
c.438C>T (p.Pro146=)
c.432C>T (p.Pro144=)
c.384C>T (p.Pro128=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44151004G>CCA4239632GCKc.*433C>G (n.*433C>G)
c.435C>G (p.Pro145=)
n.921C>G
c.438C>G (p.Pro146=)
c.432C>G (p.Pro144=)
c.384C>G (p.Pro128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44151004G=CA1703636458GCKc.*433C= (n.*433C=)
c.435C= (p.Pro145=)
n.921C=
c.438C= (p.Pro146=)
c.432C= (p.Pro144=)
c.384C= (p.Pro128=)
7g.44151004G>TCA454609811GCKc.*433C>A (n.*433C>A)
c.435C>A (p.Pro145=)
n.921C>A
c.438C>A (p.Pro146=)
c.432C>A (p.Pro144=)
c.384C>A (p.Pro128=)
7g.44151005G>ACA367401987GCKc.*432C>T (n.*432C>T)
c.434C>T (p.Pro145Leu)
n.920C>T
c.437C>T (p.Pro146Leu)
c.431C>T (p.Pro144Leu)
c.383C>T (p.Pro128Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44151005G>CCA367401988GCKc.*432C>G (n.*432C>G)
c.434C>G (p.Pro145Arg)
n.920C>G
c.437C>G (p.Pro146Arg)
c.431C>G (p.Pro144Arg)
c.383C>G (p.Pro128Arg)
7g.44151005G=CA1703636459GCKc.*432C= (n.*432C=)
c.434C= (p.Pro145=)
n.920C=
c.437C= (p.Pro146=)
c.431C= (p.Pro144=)
c.383C= (p.Pro128=)
7g.44151005G>TCA367401986GCKc.*432C>A (n.*432C>A)
c.434C>A (p.Pro145His)
n.920C>A
c.437C>A (p.Pro146His)
c.431C>A (p.Pro144His)
c.383C>A (p.Pro128His)
7g.44151006G>ACA4239634GCKc.*431C>T (n.*431C>T)
c.433C>T (p.Pro145Ser)
n.919C>T
c.436C>T (p.Pro146Ser)
c.430C>T (p.Pro144Ser)
c.382C>T (p.Pro128Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44151006G>CCA367401990GCKc.*431C>G (n.*431C>G)
c.433C>G (p.Pro145Ala)
n.919C>G
c.436C>G (p.Pro146Ala)
c.430C>G (p.Pro144Ala)
c.382C>G (p.Pro128Ala)
7g.44151006G=CA1703636460GCKc.*431C= (n.*431C=)
c.433C= (p.Pro145=)
n.919C=
c.436C= (p.Pro146=)
c.430C= (p.Pro144=)
c.382C= (p.Pro128=)
7g.44151006G>TCA367401992GCKc.*431C>A (n.*431C>A)
c.433C>A (p.Pro145Thr)
n.919C>A
c.436C>A (p.Pro146Thr)
c.430C>A (p.Pro144Thr)
c.382C>A (p.Pro128Thr)
7g.44151007C>ACA454609812GCKc.*430G>T (n.*430G>T)
c.432G>T (p.Leu144=)
n.918G>T
c.435G>T (p.Leu145=)
c.429G>T (p.Leu143=)
c.381G>T (p.Leu127=)
 ClinVar dbSNP
7g.44151007C=CA1703636462GCKc.*430G= (n.*430G=)
c.432G= (p.Leu144=)
n.918G=
c.435G= (p.Leu145=)
c.429G= (p.Leu143=)
c.381G= (p.Leu127=)
7g.44151007C>GCA454609814GCKc.*430G>C (n.*430G>C)
c.432G>C (p.Leu144=)
n.918G>C
c.435G>C (p.Leu145=)
c.429G>C (p.Leu143=)
c.381G>C (p.Leu127=)
7g.44151007C>TCA454609815GCKc.*430G>A (n.*430G>A)
c.432G>A (p.Leu144=)
n.918G>A
c.435G>A (p.Leu145=)
c.429G>A (p.Leu143=)
c.381G>A (p.Leu127=)
7g.44151007_44151008delinsAGCA2695202965GCKc.*429_*430delinsCT (n.*429_*430delinsCT)
c.431_432delinsCT (p.Leu144Pro)
n.917_918delinsCT
c.434_435delinsCT (p.Leu145Pro)
c.428_429delinsCT (p.Leu143Pro)
c.380_381delinsCT (p.Leu127Pro)
 ClinVar
7g.44151007_44151008delinsCACA1703636461GCKc.*429_*430delinsTG (n.*429_*430delinsTG)
c.431_432delinsTG (p.Leu144=)
n.917_918delinsTG
c.434_435delinsTG (p.Leu145=)
c.428_429delinsTG (p.Leu143=)
c.380_381delinsTG (p.Leu127=)
7g.44151008delCA16618470GCKc.*429del (n.*429del)
c.431del (p.Leu144ArgfsTer11)
n.917del
c.434del (p.Leu145ArgfsTer11)
c.428del (p.Leu143ArgfsTer11)
c.380del (p.Leu127ArgfsTer11)
 ClinVar dbSNP
7g.44151008A=CA1703636463GCKc.*429T= (n.*429T=)
c.431T= (p.Leu144=)
n.917T=
c.434T= (p.Leu145=)
c.428T= (p.Leu143=)
c.380T= (p.Leu127=)
7g.44151008A>CCA367401993GCKc.*429T>G (n.*429T>G)
c.431T>G (p.Leu144Arg)
n.917T>G
c.434T>G (p.Leu145Arg)
c.428T>G (p.Leu143Arg)
c.380T>G (p.Leu127Arg)
7g.44151008A>GCA367401995GCKc.*429T>C (n.*429T>C)
c.431T>C (p.Leu144Pro)
n.917T>C
c.434T>C (p.Leu145Pro)
c.428T>C (p.Leu143Pro)
c.380T>C (p.Leu127Pro)
 ClinVar dbSNP
7g.44151008A>TCA367401997GCKc.*429T>A (n.*429T>A)
c.431T>A (p.Leu144Gln)
n.917T>A
c.434T>A (p.Leu145Gln)
c.428T>A (p.Leu143Gln)
c.380T>A (p.Leu127Gln)
7g.44151009G>ACA454609819GCKc.*428C>T (n.*428C>T)
c.430C>T (p.Leu144=)
n.916C>T
c.433C>T (p.Leu145=)
c.427C>T (p.Leu143=)
c.379C>T (p.Leu127=)
 COSMIC COSMIC COSMIC
7g.44151009G>CCA367401998GCKc.*428C>G (n.*428C>G)
c.430C>G (p.Leu144Val)
n.916C>G
c.433C>G (p.Leu145Val)
c.427C>G (p.Leu143Val)
c.379C>G (p.Leu127Val)
 ClinVar
7g.44151009G>TCA367402000GCKc.*428C>A (n.*428C>A)
c.430C>A (p.Leu144Met)
n.916C>A
c.433C>A (p.Leu145Met)
c.427C>A (p.Leu143Met)
c.379C>A (p.Leu127Met)
7g.44151010C>ACA367402001GCKc.*427G>T (n.*427G>T)
c.429G>T (p.Lys143Asn)
n.915G>T
c.432G>T (p.Lys144Asn)
c.426G>T (p.Lys142Asn)
c.378G>T (p.Lys126Asn)
 ClinVar gnomAD v4
7g.44151010C=CA1703636464GCKc.*427G= (n.*427G=)
c.429G= (p.Lys143=)
n.915G=
c.432G= (p.Lys144=)
c.426G= (p.Lys142=)
c.378G= (p.Lys126=)
7g.44151010C>GCA367402002GCKc.*427G>C (n.*427G>C)
c.429G>C (p.Lys143Asn)
n.915G>C
c.432G>C (p.Lys144Asn)
c.426G>C (p.Lys142Asn)
c.378G>C (p.Lys126Asn)
7g.44151010C>TCA454609820GCKc.*427G>A (n.*427G>A)
c.429G>A (p.Lys143=)
n.915G>A
c.432G>A (p.Lys144=)
c.426G>A (p.Lys142=)
c.378G>A (p.Lys126=)
 dbSNP gnomAD v3 gnomAD v4
7g.44151013_44151015delCA2695202966GCKc.*425_*427del (n.*425_*427del)
c.427_429del (p.Lys143del)
n.913_915del
c.430_432del (p.Lys144del)
c.424_426del (p.Lys142del)
c.376_378del (p.Lys126del)
7g.44151011T>ACA367402004GCKc.*426A>T (n.*426A>T)
c.428A>T (p.Lys143Met)
n.914A>T
c.431A>T (p.Lys144Met)
c.425A>T (p.Lys142Met)
c.377A>T (p.Lys126Met)
7g.44151011T>CCA367402006GCKc.*426A>G (n.*426A>G)
c.428A>G (p.Lys143Arg)
n.914A>G
c.431A>G (p.Lys144Arg)
c.425A>G (p.Lys142Arg)
c.377A>G (p.Lys126Arg)
7g.44151011T>GCA367402007GCKc.*426A>C (n.*426A>C)
c.428A>C (p.Lys143Thr)
n.914A>C
c.431A>C (p.Lys144Thr)
c.425A>C (p.Lys142Thr)
c.377A>C (p.Lys126Thr)
7g.44151011_44151012delinsAGCA658655971GCKc.*425_*426delinsCT (n.*425_*426delinsCT)
c.427_428delinsCT (p.Lys143Leu)
n.913_914delinsCT
c.430_431delinsCT (p.Lys144Leu)
c.424_425delinsCT (p.Lys142Leu)
c.376_377delinsCT (p.Lys126Leu)
 ClinVar dbSNP
7g.44151011_44151012delinsTTCA1703636465GCKc.*425_*426delinsAA (n.*425_*426delinsAA)
c.427_428delinsAA (p.Lys143=)
n.913_914delinsAA
c.430_431delinsAA (p.Lys144=)
c.424_425delinsAA (p.Lys142=)
c.376_377delinsAA (p.Lys126=)
7g.44151012T>ACA367402011GCKc.*425A>T (n.*425A>T)
c.427A>T (p.Lys143Ter)
n.913A>T
c.430A>T (p.Lys144Ter)
c.424A>T (p.Lys142Ter)
c.376A>T (p.Lys126Ter)
7g.44151012T>CCA367402010GCKc.*425A>G (n.*425A>G)
c.427A>G (p.Lys143Glu)
n.913A>G
c.430A>G (p.Lys144Glu)
c.424A>G (p.Lys142Glu)
c.376A>G (p.Lys126Glu)
7g.44151012T>GCA367402009GCKc.*425A>C (n.*425A>C)
c.427A>C (p.Lys143Gln)
n.913A>C
c.430A>C (p.Lys144Gln)
c.424A>C (p.Lys142Gln)
c.376A>C (p.Lys126Gln)
7g.44151013C>ACA367402013GCKc.*424G>T (n.*424G>T)
c.426G>T (p.Lys142Asn)
n.912G>T
c.429G>T (p.Lys143Asn)
c.423G>T (p.Lys141Asn)
c.375G>T (p.Lys125Asn)
7g.44151013C>GCA367402015GCKc.*424G>C (n.*424G>C)
c.426G>C (p.Lys142Asn)
n.912G>C
c.429G>C (p.Lys143Asn)
c.423G>C (p.Lys141Asn)
c.375G>C (p.Lys125Asn)
7g.44151013C>TCA454609822GCKc.*424G>A (n.*424G>A)
c.426G>A (p.Lys142=)
n.912G>A
c.429G>A (p.Lys143=)
c.423G>A (p.Lys141=)
c.375G>A (p.Lys125=)
 gnomAD v4 COSMIC COSMIC COSMIC
7g.44151014T>ACA367402016GCKc.*423A>T (n.*423A>T)
c.425A>T (p.Lys142Met)
n.911A>T
c.428A>T (p.Lys143Met)
c.422A>T (p.Lys141Met)
c.374A>T (p.Lys125Met)
7g.44151014T>CCA367402018GCKc.*423A>G (n.*423A>G)
c.425A>G (p.Lys142Arg)
n.911A>G
c.428A>G (p.Lys143Arg)
c.422A>G (p.Lys141Arg)
c.374A>G (p.Lys125Arg)
7g.44151014T>GCA367402019GCKc.*423A>C (n.*423A>C)
c.425A>C (p.Lys142Thr)
n.911A>C
c.428A>C (p.Lys143Thr)
c.422A>C (p.Lys141Thr)
c.374A>C (p.Lys125Thr)
7g.44151015T>ACA367402020GCKc.*422A>T (n.*422A>T)
c.424A>T (p.Lys142Ter)
n.910A>T
c.427A>T (p.Lys143Ter)
c.421A>T (p.Lys141Ter)
c.373A>T (p.Lys125Ter)
7g.44151015T>CCA367402021GCKc.*422A>G (n.*422A>G)
c.424A>G (p.Lys142Glu)
n.910A>G
c.427A>G (p.Lys143Glu)
c.421A>G (p.Lys141Glu)
c.373A>G (p.Lys125Glu)
7g.44151015T>GCA367402022GCKc.*422A>C (n.*422A>C)
c.424A>C (p.Lys142Gln)
n.910A>C
c.427A>C (p.Lys143Gln)
c.421A>C (p.Lys141Gln)
c.373A>C (p.Lys125Gln)
7g.44151018_44151019delCA2695202967GCKc.*421_*422del (n.*421_*422del)
c.423_424del (p.His141GlnfsTer20)
n.909_910del
c.426_427del (p.His142GlnfsTer20)
c.420_421del (p.His140GlnfsTer20)
c.372_373del (p.His124GlnfsTer20)
7g.44151016delCA2695202968GCKc.*421del (n.*421del)
c.423del (p.His141GlnfsTer14)
n.909del
c.426del (p.His142GlnfsTer14)
c.420del (p.His140GlnfsTer14)
c.372del (p.His124GlnfsTer14)
7g.44151016G>ACA454609827GCKc.*421C>T (n.*421C>T)
c.423C>T (p.His141=)
n.909C>T
c.426C>T (p.His142=)
c.420C>T (p.His140=)
c.372C>T (p.His124=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44151016G>CCA367402023GCKc.*421C>G (n.*421C>G)
c.423C>G (p.His141Gln)
n.909C>G
c.426C>G (p.His142Gln)
c.420C>G (p.His140Gln)
c.372C>G (p.His124Gln)
7g.44151016G=CA1703636466GCKc.*421C= (n.*421C=)
c.423C= (p.His141=)
n.909C=
c.426C= (p.His142=)
c.420C= (p.His140=)
c.372C= (p.His124=)
7g.44151016G>TCA367402025GCKc.*421C>A (n.*421C>A)
c.423C>A (p.His141Gln)
n.909C>A
c.426C>A (p.His142Gln)
c.420C>A (p.His140Gln)
c.372C>A (p.His124Gln)
 ClinVar dbSNP
7g.44151017T>ACA367402027GCKc.*420A>T (n.*420A>T)
c.422A>T (p.His141Leu)
n.908A>T
c.425A>T (p.His142Leu)
c.419A>T (p.His140Leu)
c.371A>T (p.His124Leu)
7g.44151017T>CCA367402028GCKc.*420A>G (n.*420A>G)
c.422A>G (p.His141Arg)
n.908A>G
c.425A>G (p.His142Arg)
c.419A>G (p.His140Arg)
c.371A>G (p.His124Arg)
 gnomAD v4 COSMIC COSMIC
7g.44151017T>GCA367402030GCKc.*420A>C (n.*420A>C)
c.422A>C (p.His141Pro)
n.908A>C
c.425A>C (p.His142Pro)
c.419A>C (p.His140Pro)
c.371A>C (p.His124Pro)
 ClinVar dbSNP
7g.44151018G>ACA367402032GCKc.*419C>T (n.*419C>T)
c.421C>T (p.His141Tyr)
n.907C>T
c.424C>T (p.His142Tyr)
c.418C>T (p.His140Tyr)
c.370C>T (p.His124Tyr)
7g.44151018G>CCA367402034GCKc.*419C>G (n.*419C>G)
c.421C>G (p.His141Asp)
n.907C>G
c.424C>G (p.His142Asp)
c.418C>G (p.His140Asp)
c.370C>G (p.His124Asp)
7g.44151018G>TCA367402031GCKc.*419C>A (n.*419C>A)
c.421C>A (p.His141Asn)
n.907C>A
c.424C>A (p.His142Asn)
c.418C>A (p.His140Asn)
c.370C>A (p.His124Asn)

Number of alleles fetched