Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.54042597_54042606delinsCCGCACCCTGCA2430051072PHF8c.98+25_98+34delinsCAGGGTGCGG (n.98+25_98+34delinsCAGGGTGCGG)
c.206+25_206+34delinsCAGGGTGCGG (n.206+25_206+34delinsCAGGGTGCGG)
n.86+25_86+34delinsCAGGGTGCGG
Xg.54042598_54042606delCA876338013PHF8c.98+25_98+33del (n.98+25_98+33del)
c.206+25_206+33del (n.206+25_206+33del)
n.86+25_86+33del
 dbSNP gnomAD v3 gnomAD v4
Xg.54042606G>TCA2693830981PHF8c.98+25C>A (n.98+25C>A)
c.206+25C>A (n.206+25C>A)
n.86+25C>A
 gnomAD v4
Xg.54042607T>CCA2693830982PHF8c.98+24A>G (n.98+24A>G)
c.206+24A>G (n.206+24A>G)
n.86+24A>G
 gnomAD v4
Xg.54042607T>GCA2693830983PHF8c.98+24A>C (n.98+24A>C)
c.206+24A>C (n.206+24A>C)
n.86+24A>C
 gnomAD v4
Xg.54042608G>ACA2579619962PHF8c.98+23C>T (n.98+23C>T)
c.206+23C>T (n.206+23C>T)
n.86+23C>T
Xg.54042608G>TCA2693830984PHF8c.98+23C>A (n.98+23C>A)
c.206+23C>A (n.206+23C>A)
n.86+23C>A
 gnomAD v4
Xg.54042610A>GCA2693830985PHF8c.98+21T>C (n.98+21T>C)
c.206+21T>C (n.206+21T>C)
n.86+21T>C
 gnomAD v4
Xg.54042611G>ACA10423685PHF8c.98+20C>T (n.98+20C>T)
c.206+20C>T (n.206+20C>T)
n.86+20C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54042611G=CA2430051078PHF8c.98+20C= (n.98+20C=)
c.206+20C= (n.206+20C=)
n.86+20C=
Xg.54042612C>ACA2693830986PHF8c.98+19G>T (n.98+19G>T)
c.206+19G>T (n.206+19G>T)
n.86+19G>T
 gnomAD v4
Xg.54042612C>GCA2820976729PHF8c.98+19G>C (n.98+19G>C)
c.206+19G>C (n.206+19G>C)
n.86+19G>C
Xg.54042612C>TCA2579619963PHF8c.98+19G>A (n.98+19G>A)
c.206+19G>A (n.206+19G>A)
n.86+19G>A
Xg.54042613C>ACA2579619964PHF8c.98+18G>T (n.98+18G>T)
c.206+18G>T (n.206+18G>T)
n.86+18G>T
Xg.54042613C=CA2430051079PHF8c.98+18G= (n.98+18G=)
c.206+18G= (n.206+18G=)
n.86+18G=
Xg.54042613C>TCA2430051080PHF8c.98+18G>A (n.98+18G>A)
c.206+18G>A (n.206+18G>A)
n.86+18G>A
 dbSNP
Xg.54042614T>CCA2693830987PHF8c.98+17A>G (n.98+17A>G)
c.206+17A>G (n.206+17A>G)
n.86+17A>G
 gnomAD v4
Xg.54042615G>ACA2693830988PHF8c.98+16C>T (n.98+16C>T)
c.206+16C>T (n.206+16C>T)
n.86+16C>T
 gnomAD v4
Xg.54042615G=CA2430051081PHF8c.98+16C= (n.98+16C=)
c.206+16C= (n.206+16C=)
n.86+16C=
Xg.54042615G>TCA2430051082PHF8c.98+16C>A (n.98+16C>A)
c.206+16C>A (n.206+16C>A)
n.86+16C>A
 dbSNP
Xg.54042616G>ACA2693830989PHF8c.98+15C>T (n.98+15C>T)
c.206+15C>T (n.206+15C>T)
n.86+15C>T
 gnomAD v4
Xg.54042616G>CCA641907070PHF8c.98+15C>G (n.98+15C>G)
c.206+15C>G (n.206+15C>G)
n.86+15C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042616G=CA2430051083PHF8c.98+15C= (n.98+15C=)
c.206+15C= (n.206+15C=)
n.86+15C=
Xg.54042617C>TCA2535266428PHF8c.98+14G>A (n.98+14G>A)
c.206+14G>A (n.206+14G>A)
n.86+14G>A
Xg.54042618C>GCA2693830990PHF8c.98+13G>C (n.98+13G>C)
c.206+13G>C (n.206+13G>C)
n.86+13G>C
 gnomAD v4
Xg.54042618C>TCA2693830991PHF8c.98+13G>A (n.98+13G>A)
c.206+13G>A (n.206+13G>A)
n.86+13G>A
 gnomAD v4
Xg.54042619T>GCA641907071PHF8c.98+12A>C (n.98+12A>C)
c.206+12A>C (n.206+12A>C)
n.86+12A>C
 dbSNP gnomAD v2 gnomAD v4
Xg.54042619T=CA2430051084PHF8c.98+12A= (n.98+12A=)
c.206+12A= (n.206+12A=)
n.86+12A=
Xg.54042620G>ACA1133218859PHF8c.98+11C>T (n.98+11C>T)
c.206+11C>T (n.206+11C>T)
n.86+11C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.54042620G>CCA2579619965PHF8c.98+11C>G (n.98+11C>G)
c.206+11C>G (n.206+11C>G)
n.86+11C>G
 gnomAD v4
Xg.54042620G=CA2430051085PHF8c.98+11C= (n.98+11C=)
c.206+11C= (n.206+11C=)
n.86+11C=
Xg.54042621C>TCA2579619966PHF8c.98+10G>A (n.98+10G>A)
c.206+10G>A (n.206+10G>A)
n.86+10G>A
 gnomAD v4
Xg.54042622C=CA2430051086PHF8c.98+9G= (n.98+9G=)
c.206+9G= (n.206+9G=)
n.86+9G=
Xg.54042622C>GCA1133218862PHF8c.98+9G>C (n.98+9G>C)
c.206+9G>C (n.206+9G>C)
n.86+9G>C
 gnomAD v3 gnomAD v4
Xg.54042622C>TCA10423686PHF8c.98+9G>A (n.98+9G>A)
c.206+9G>A (n.206+9G>A)
n.86+9G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042624T>CCA876338028PHF8c.98+7A>G (n.98+7A>G)
c.206+7A>G (n.206+7A>G)
n.86+7A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.54042624T=CA2430051087PHF8c.98+7A= (n.98+7A=)
c.206+7A= (n.206+7A=)
n.86+7A=
Xg.54042625C>ACA2529640643PHF8c.98+6G>T (n.98+6G>T)
c.206+6G>T (n.206+6G>T)
n.86+6G>T
Xg.54042628delCA2579619967PHF8c.98+4del (n.98+4del)
c.206+4del (n.206+4del)
n.86+4del
Xg.54042629A=CA2430051088PHF8c.98+2T= (n.98+2T=)
c.206+2T= (n.206+2T=)
n.86+2T=
Xg.54042629A>CCA413249663PHF8c.98+2T>G (n.98+2T>G)
c.206+2T>G (n.206+2T>G)
n.86+2T>G
 dbSNP gnomAD v2
Xg.54042629A>GCA413249662PHF8c.98+2T>C (n.98+2T>C)
c.206+2T>C (n.206+2T>C)
n.86+2T>C
Xg.54042629A>TCA413249661PHF8c.98+2T>A (n.98+2T>A)
c.206+2T>A (n.206+2T>A)
n.86+2T>A
Xg.54042630C>ACA413249664PHF8c.98+1G>T (n.98+1G>T)
c.206+1G>T (n.206+1G>T)
n.86+1G>T
Xg.54042630C>GCA413249665PHF8c.98+1G>C (n.98+1G>C)
c.206+1G>C (n.206+1G>C)
n.86+1G>C
Xg.54042630C>TCA413249666PHF8c.98+1G>A (n.98+1G>A)
c.206+1G>A (n.206+1G>A)
n.86+1G>A
Xg.54042631C>ACA413249667PHF8c.98G>T (p.Ser33Ile)
c.206G>T (p.Ser69Ile)
n.86G>T
Xg.54042631C>GCA413249668PHF8c.98G>C (p.Ser33Thr)
c.206G>C (p.Ser69Thr)
n.86G>C
Xg.54042631C>TCA413249669PHF8c.98G>A (p.Ser33Asn)
c.206G>A (p.Ser69Asn)
n.86G>A
Xg.54042632T>ACA413249670PHF8c.97A>T (p.Ser33Cys)
c.205A>T (p.Ser69Cys)
n.85A>T
Xg.54042632T>CCA413249672PHF8c.97A>G (p.Ser33Gly)
c.205A>G (p.Ser69Gly)
n.85A>G
Xg.54042632T>GCA413249671PHF8c.97A>C (p.Ser33Arg)
c.205A>C (p.Ser69Arg)
n.85A>C
Xg.54042633G>ACA516566180PHF8c.96C>T (p.Gly32=)
c.204C>T (p.Gly68=)
n.84C>T
Xg.54042633G>CCA516566181PHF8c.96C>G (p.Gly32=)
c.204C>G (p.Gly68=)
n.84C>G
Xg.54042633G>TCA516566182PHF8c.96C>A (p.Gly32=)
c.204C>A (p.Gly68=)
n.84C>A
Xg.54042634C>ACA413249673PHF8c.95G>T (p.Gly32Val)
c.203G>T (p.Gly68Val)
n.83G>T
Xg.54042634C=CA2430051089PHF8c.95G= (p.Gly32=)
c.203G= (p.Gly68=)
n.83G=
Xg.54042634C>GCA413249674PHF8c.95G>C (p.Gly32Ala)
c.203G>C (p.Gly68Ala)
n.83G>C
Xg.54042634C>TCA413249675PHF8c.95G>A (p.Gly32Asp)
c.203G>A (p.Gly68Asp)
n.83G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.54042635C>ACA413249676PHF8c.94G>T (p.Gly32Cys)
c.202G>T (p.Gly68Cys)
n.82G>T
Xg.54042635C>GCA413249677PHF8c.94G>C (p.Gly32Arg)
c.202G>C (p.Gly68Arg)
n.82G>C
Xg.54042635C>TCA413249678PHF8c.94G>A (p.Gly32Ser)
c.202G>A (p.Gly68Ser)
n.82G>A
Xg.54042636A>CCA413249679PHF8c.93T>G (p.His31Gln)
c.201T>G (p.His67Gln)
n.81T>G
Xg.54042636A>GCA516566183PHF8c.93T>C (p.His31=)
c.201T>C (p.His67=)
n.81T>C
Xg.54042636A>TCA413249680PHF8c.93T>A (p.His31Gln)
c.201T>A (p.His67Gln)
n.81T>A
Xg.54042637T>ACA413249681PHF8c.92A>T (p.His31Leu)
c.200A>T (p.His67Leu)
n.80A>T
Xg.54042637T>CCA413249682PHF8c.92A>G (p.His31Arg)
c.200A>G (p.His67Arg)
n.80A>G
Xg.54042637T>GCA413249683PHF8c.92A>C (p.His31Pro)
c.200A>C (p.His67Pro)
n.80A>C
Xg.54042638G>ACA413249684PHF8c.91C>T (p.His31Tyr)
c.199C>T (p.His67Tyr)
n.79C>T
Xg.54042638G>CCA413249686PHF8c.91C>G (p.His31Asp)
c.199C>G (p.His67Asp)
n.79C>G
Xg.54042638G>TCA413249685PHF8c.91C>A (p.His31Asn)
c.199C>A (p.His67Asn)
n.79C>A
 gnomAD v4
Xg.54042639A>CCA413249687PHF8c.90T>G (p.Phe30Leu)
c.198T>G (p.Phe66Leu)
n.78T>G
Xg.54042639A>GCA516566184PHF8c.90T>C (p.Phe30=)
c.198T>C (p.Phe66=)
n.78T>C
Xg.54042639A>TCA413249688PHF8c.90T>A (p.Phe30Leu)
c.198T>A (p.Phe66Leu)
n.78T>A
Xg.54042640A>CCA413249689PHF8c.89T>G (p.Phe30Cys)
c.197T>G (p.Phe66Cys)
n.77T>G
Xg.54042640A>GCA413249690PHF8c.89T>C (p.Phe30Ser)
c.197T>C (p.Phe66Ser)
n.77T>C
Xg.54042640A>TCA413249691PHF8c.89T>A (p.Phe30Tyr)
c.197T>A (p.Phe66Tyr)
n.77T>A
Xg.54042641A>CCA413249692PHF8c.88T>G (p.Phe30Val)
c.196T>G (p.Phe66Val)
n.76T>G
Xg.54042641A>GCA413249693PHF8c.88T>C (p.Phe30Leu)
c.196T>C (p.Phe66Leu)
n.76T>C
Xg.54042641A>TCA413249694PHF8c.88T>A (p.Phe30Ile)
c.196T>A (p.Phe66Ile)
n.76T>A
Xg.54042642C>ACA413249695PHF8c.87G>T (p.Trp29Cys)
c.195G>T (p.Trp65Cys)
n.75G>T
 gnomAD v4
Xg.54042642C>GCA413249696PHF8c.87G>C (p.Trp29Cys)
c.195G>C (p.Trp65Cys)
n.75G>C
Xg.54042642C>TCA413249697PHF8c.87G>A (p.Trp29Ter)
c.195G>A (p.Trp65Ter)
n.75G>A
Xg.54042643C>ACA413249700PHF8c.86G>T (p.Trp29Leu)
c.194G>T (p.Trp65Leu)
n.74G>T
Xg.54042643C>GCA413249699PHF8c.86G>C (p.Trp29Ser)
c.194G>C (p.Trp65Ser)
n.74G>C
Xg.54042643C>TCA413249698PHF8c.86G>A (p.Trp29Ter)
c.194G>A (p.Trp65Ter)
n.74G>A
Xg.54042644A>CCA413249701PHF8c.85T>G (p.Trp29Gly)
c.193T>G (p.Trp65Gly)
n.73T>G
Xg.54042644A>GCA413249702PHF8c.85T>C (p.Trp29Arg)
c.193T>C (p.Trp65Arg)
n.73T>C
Xg.54042644A>TCA413249703PHF8c.85T>A (p.Trp29Arg)
c.193T>A (p.Trp65Arg)
n.73T>A
Xg.54042645G>ACA516566185PHF8c.84C>T (p.Asp28=)
c.192C>T (p.Asp64=)
n.72C>T
 gnomAD v3 gnomAD v4
Xg.54042645G>CCA413249704PHF8c.84C>G (p.Asp28Glu)
c.192C>G (p.Asp64Glu)
n.72C>G
Xg.54042645G>TCA413249705PHF8c.84C>A (p.Asp28Glu)
c.192C>A (p.Asp64Glu)
n.72C>A
Xg.54042646T>ACA413249706PHF8c.83A>T (p.Asp28Val)
c.191A>T (p.Asp64Val)
n.71A>T
Xg.54042646T>CCA413249707PHF8c.83A>G (p.Asp28Gly)
c.191A>G (p.Asp64Gly)
n.71A>G
Xg.54042646T>GCA413249708PHF8c.83A>C (p.Asp28Ala)
c.191A>C (p.Asp64Ala)
n.71A>C
Xg.54042647C>ACA413249709PHF8c.82G>T (p.Asp28Tyr)
c.190G>T (p.Asp64Tyr)
n.70G>T
Xg.54042647C>GCA413249710PHF8c.82G>C (p.Asp28His)
c.190G>C (p.Asp64His)
n.70G>C
Xg.54042647C>TCA413249711PHF8c.82G>A (p.Asp28Asn)
c.190G>A (p.Asp64Asn)
n.70G>A
Xg.54042648C>ACA413249712PHF8c.81G>T (p.Gln27His)
c.189G>T (p.Gln63His)
n.69G>T
Xg.54042648C>GCA413249713PHF8c.81G>C (p.Gln27His)
c.189G>C (p.Gln63His)
n.69G>C
Xg.54042648C>TCA516566186PHF8c.81G>A (p.Gln27=)
c.189G>A (p.Gln63=)
n.69G>A
Xg.54042649T>ACA413249716PHF8c.80A>T (p.Gln27Leu)
c.188A>T (p.Gln63Leu)
n.68A>T
Xg.54042649T>CCA413249715PHF8c.80A>G (p.Gln27Arg)
c.188A>G (p.Gln63Arg)
n.68A>G
Xg.54042649T>GCA413249714PHF8c.80A>C (p.Gln27Pro)
c.188A>C (p.Gln63Pro)
n.68A>C
Xg.54042650G>ACA413249717PHF8c.79C>T (p.Gln27Ter)
c.187C>T (p.Gln63Ter)
n.67C>T
Xg.54042650G>CCA10423687PHF8c.79C>G (p.Gln27Glu)
c.187C>G (p.Gln63Glu)
n.67C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54042650G=CA2430051090PHF8c.79C= (p.Gln27=)
c.187C= (p.Gln63=)
n.67C=
Xg.54042650G>TCA413249718PHF8c.79C>A (p.Gln27Lys)
c.187C>A (p.Gln63Lys)
n.67C>A
Xg.54042651G>ACA10423688PHF8c.78C>T (p.Cys26=)
c.186C>T (p.Cys62=)
n.66C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.54042651G>CCA413249719PHF8c.78C>G (p.Cys26Trp)
c.186C>G (p.Cys62Trp)
n.66C>G
Xg.54042651G=CA2430051091PHF8c.78C= (p.Cys26=)
c.186C= (p.Cys62=)
n.66C=
Xg.54042651G>TCA413249720PHF8c.78C>A (p.Cys26Ter)
c.186C>A (p.Cys62Ter)
n.66C>A
Xg.54042652C>ACA413249721PHF8c.77G>T (p.Cys26Phe)
c.185G>T (p.Cys62Phe)
n.65G>T
Xg.54042652C>GCA413249722PHF8c.77G>C (p.Cys26Ser)
c.185G>C (p.Cys62Ser)
n.65G>C
Xg.54042652C>TCA413249723PHF8c.77G>A (p.Cys26Tyr)
c.185G>A (p.Cys62Tyr)
n.65G>A
Xg.54042653A>CCA413249724PHF8c.76T>G (p.Cys26Gly)
c.184T>G (p.Cys62Gly)
n.64T>G
Xg.54042653A>GCA413249725PHF8c.76T>C (p.Cys26Arg)
c.184T>C (p.Cys62Arg)
n.64T>C
Xg.54042653A>TCA413249726PHF8c.76T>A (p.Cys26Ser)
c.184T>A (p.Cys62Ser)
n.64T>A
Xg.54042654C>ACA413249727PHF8c.75G>T (p.Met25Ile)
c.183G>T (p.Met61Ile)
n.63G>T
Xg.54042654C>GCA413249728PHF8c.75G>C (p.Met25Ile)
c.183G>C (p.Met61Ile)
n.63G>C
Xg.54042654C>TCA413249729PHF8c.75G>A (p.Met25Ile)
c.183G>A (p.Met61Ile)
n.63G>A
Xg.54042655A>CCA413249733PHF8c.74T>G (p.Met25Arg)
c.182T>G (p.Met61Arg)
n.62T>G
Xg.54042655A>GCA413249730PHF8c.74T>C (p.Met25Thr)
c.182T>C (p.Met61Thr)
n.62T>C
Xg.54042655A>TCA413249732PHF8c.74T>A (p.Met25Lys)
c.182T>A (p.Met61Lys)
n.62T>A
Xg.54042656T>ACA413249735PHF8c.73A>T (p.Met25Leu)
c.181A>T (p.Met61Leu)
n.61A>T
Xg.54042656T>CCA413249736PHF8c.73A>G (p.Met25Val)
c.181A>G (p.Met61Val)
n.61A>G
 gnomAD v4
Xg.54042656T>GCA413249737PHF8c.73A>C (p.Met25Leu)
c.181A>C (p.Met61Leu)
n.61A>C
Xg.54042657G>ACA10423689PHF8c.72C>T (p.Asp24=)
c.180C>T (p.Asp60=)
n.60C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042657G>CCA413249738PHF8c.72C>G (p.Asp24Glu)
c.180C>G (p.Asp60Glu)
n.60C>G
Xg.54042657G=CA2430051092PHF8c.72C= (p.Asp24=)
c.180C= (p.Asp60=)
n.60C=
Xg.54042657G>TCA413249739PHF8c.72C>A (p.Asp24Glu)
c.180C>A (p.Asp60Glu)
n.60C>A
 gnomAD v4
Xg.54042658T>ACA413249740PHF8c.71A>T (p.Asp24Val)
c.179A>T (p.Asp60Val)
n.59A>T
Xg.54042658T>CCA413249741PHF8c.71A>G (p.Asp24Gly)
c.179A>G (p.Asp60Gly)
n.59A>G
Xg.54042658T>GCA413249742PHF8c.71A>C (p.Asp24Ala)
c.179A>C (p.Asp60Ala)
n.59A>C
Xg.54042659C>ACA413249743PHF8c.70G>T (p.Asp24Tyr)
c.178G>T (p.Asp60Tyr)
n.58G>T
Xg.54042659C>GCA413249744PHF8c.70G>C (p.Asp24His)
c.178G>C (p.Asp60His)
n.58G>C
Xg.54042659C>TCA413249745PHF8c.70G>A (p.Asp24Asn)
c.178G>A (p.Asp60Asn)
n.58G>A
Xg.54042662_54042663delCA2820976732PHF8c.69_70del (p.Cys23Ter)
c.177_178del (p.Cys59Ter)
n.57_58del
Xg.54042660A>CCA413249747PHF8c.69T>G (p.Cys23Trp)
c.177T>G (p.Cys59Trp)
n.57T>G
Xg.54042660A>GCA516566187PHF8c.69T>C (p.Cys23=)
c.177T>C (p.Cys59=)
n.57T>C
Xg.54042660A>TCA413249746PHF8c.69T>A (p.Cys23Ter)
c.177T>A (p.Cys59Ter)
n.57T>A
Xg.54042661C>ACA413249748PHF8c.68G>T (p.Cys23Phe)
c.176G>T (p.Cys59Phe)
n.56G>T
Xg.54042661C>GCA413249749PHF8c.68G>C (p.Cys23Ser)
c.176G>C (p.Cys59Ser)
n.56G>C
Xg.54042661C>TCA413249750PHF8c.68G>A (p.Cys23Tyr)
c.176G>A (p.Cys59Tyr)
n.56G>A
Xg.54042662A>CCA413249751PHF8c.67T>G (p.Cys23Gly)
c.175T>G (p.Cys59Gly)
n.55T>G
Xg.54042662A>GCA413249752PHF8c.67T>C (p.Cys23Arg)
c.175T>C (p.Cys59Arg)
n.55T>C
Xg.54042662A>TCA413249753PHF8c.67T>A (p.Cys23Ser)
c.175T>A (p.Cys59Ser)
n.55T>A
Xg.54042663C>ACA413249754PHF8c.66G>T (p.Glu22Asp)
c.174G>T (p.Glu58Asp)
n.54G>T
Xg.54042663C>GCA413249755PHF8c.66G>C (p.Glu22Asp)
c.174G>C (p.Glu58Asp)
n.54G>C
Xg.54042663C>TCA516566188PHF8c.66G>A (p.Glu22=)
c.174G>A (p.Glu58=)
n.54G>A
Xg.54042664T>ACA413249756PHF8c.65A>T (p.Glu22Val)
c.173A>T (p.Glu58Val)
n.53A>T
Xg.54042664T>CCA413249758PHF8c.65A>G (p.Glu22Gly)
c.173A>G (p.Glu58Gly)
n.53A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.54042664T>GCA413249757PHF8c.65A>C (p.Glu22Ala)
c.173A>C (p.Glu58Ala)
n.53A>C
Xg.54042664T=CA2430051093PHF8c.65A= (p.Glu22=)
c.173A= (p.Glu58=)
n.53A=
Xg.54042665C>ACA413249759PHF8c.64G>T (p.Glu22Ter)
c.172G>T (p.Glu58Ter)
n.52G>T
 gnomAD v4
Xg.54042665C=CA2430051094PHF8c.64G= (p.Glu22=)
c.172G= (p.Glu58=)
n.52G=
Xg.54042665C>GCA413249760PHF8c.64G>C (p.Glu22Gln)
c.172G>C (p.Glu58Gln)
n.52G>C
 dbSNP
Xg.54042665C>TCA413249762PHF8c.64G>A (p.Glu22Lys)
c.172G>A (p.Glu58Lys)
n.52G>A
Xg.54042666G>ACA516566189PHF8c.63C>T (p.Ile21=)
c.171C>T (p.Ile57=)
n.51C>T
 gnomAD v4
Xg.54042666G>CCA413249764PHF8c.63C>G (p.Ile21Met)
c.171C>G (p.Ile57Met)
n.51C>G
Xg.54042666G>TCA516566190PHF8c.63C>A (p.Ile21=)
c.171C>A (p.Ile57=)
n.51C>A
Xg.54042667A>CCA413249765PHF8c.62T>G (p.Ile21Ser)
c.170T>G (p.Ile57Ser)
n.50T>G
Xg.54042667A>GCA413249767PHF8c.62T>C (p.Ile21Thr)
c.170T>C (p.Ile57Thr)
n.50T>C
Xg.54042667A>TCA413249766PHF8c.62T>A (p.Ile21Asn)
c.170T>A (p.Ile57Asn)
n.50T>A
Xg.54042668T>ACA413249768PHF8c.61A>T (p.Ile21Phe)
c.169A>T (p.Ile57Phe)
n.49A>T
Xg.54042668T>CCA413249769PHF8c.61A>G (p.Ile21Val)
c.169A>G (p.Ile57Val)
n.49A>G
Xg.54042668T>GCA413249770PHF8c.61A>C (p.Ile21Leu)
c.169A>C (p.Ile57Leu)
n.49A>C
Xg.54042669C>ACA413249771PHF8c.60G>T (p.Met20Ile)
c.168G>T (p.Met56Ile)
n.48G>T
Xg.54042669C>GCA413249772PHF8c.60G>C (p.Met20Ile)
c.168G>C (p.Met56Ile)
n.48G>C
Xg.54042669C>TCA413249773PHF8c.60G>A (p.Met20Ile)
c.168G>A (p.Met56Ile)
n.48G>A
Xg.54042670A>CCA413249774PHF8c.59T>G (p.Met20Arg)
c.167T>G (p.Met56Arg)
n.47T>G
Xg.54042670A>GCA413249775PHF8c.59T>C (p.Met20Thr)
c.167T>C (p.Met56Thr)
n.47T>C
Xg.54042670A>TCA413249776PHF8c.59T>A (p.Met20Lys)
c.167T>A (p.Met56Lys)
n.47T>A
Xg.54042671T>ACA413249777PHF8c.58A>T (p.Met20Leu)
c.166A>T (p.Met56Leu)
n.46A>T
Xg.54042671T>CCA413249778PHF8c.58A>G (p.Met20Val)
c.166A>G (p.Met56Val)
n.46A>G
Xg.54042671T>GCA413249779PHF8c.58A>C (p.Met20Leu)
c.166A>C (p.Met56Leu)
n.46A>C
Xg.54042672G>ACA10423690PHF8c.57C>T (p.Phe19=)
c.165C>T (p.Phe55=)
n.45C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.54042672G>CCA413249781PHF8c.57C>G (p.Phe19Leu)
c.165C>G (p.Phe55Leu)
n.45C>G
Xg.54042672G=CA2430051095PHF8c.57C= (p.Phe19=)
c.165C= (p.Phe55=)
n.45C=
Xg.54042672G>TCA413249780PHF8c.57C>A (p.Phe19Leu)
c.165C>A (p.Phe55Leu)
n.45C>A
Xg.54042673A>CCA413249782PHF8c.56T>G (p.Phe19Cys)
c.164T>G (p.Phe55Cys)
n.44T>G
Xg.54042673A>GCA413249784PHF8c.56T>C (p.Phe19Ser)
c.164T>C (p.Phe55Ser)
n.44T>C
Xg.54042673A>TCA413249783PHF8c.56T>A (p.Phe19Tyr)
c.164T>A (p.Phe55Tyr)
n.44T>A
Xg.54042674A>CCA413249785PHF8c.55T>G (p.Phe19Val)
c.163T>G (p.Phe55Val)
n.43T>G
Xg.54042674A>GCA413249787PHF8c.55T>C (p.Phe19Leu)
c.163T>C (p.Phe55Leu)
n.43T>C
Xg.54042674A>TCA413249786PHF8c.55T>A (p.Phe19Ile)
c.163T>A (p.Phe55Ile)
n.43T>A
Xg.54042675G>ACA10423691PHF8c.54C>T (p.Arg18=)
c.162C>T (p.Arg54=)
n.42C>T
 dbSNP ExAC gnomAD v2
Xg.54042675G>CCA516566191PHF8c.54C>G (p.Arg18=)
c.162C>G (p.Arg54=)
n.42C>G
Xg.54042675G=CA2430051096PHF8c.54C= (p.Arg18=)
c.162C= (p.Arg54=)
n.42C=
Xg.54042675G>TCA516566192PHF8c.54C>A (p.Arg18=)
c.162C>A (p.Arg54=)
n.42C>A
Xg.54042676C>ACA413249788PHF8c.53G>T (p.Arg18Leu)
c.161G>T (p.Arg54Leu)
n.41G>T
Xg.54042676C>GCA413249789PHF8c.53G>C (p.Arg18Pro)
c.161G>C (p.Arg54Pro)
n.41G>C
Xg.54042676C>TCA413249790PHF8c.53G>A (p.Arg18His)
c.161G>A (p.Arg54His)
n.41G>A
Xg.54042677G>ACA413249791PHF8c.52C>T (p.Arg18Cys)
c.160C>T (p.Arg54Cys)
n.40C>T
Xg.54042677G>CCA413249792PHF8c.52C>G (p.Arg18Gly)
c.160C>G (p.Arg54Gly)
n.40C>G
Xg.54042677G>TCA413249793PHF8c.52C>A (p.Arg18Ser)
c.160C>A (p.Arg54Ser)
n.40C>A
Xg.54042678G>ACA516566195PHF8c.51C>T (p.Thr17=)
c.159C>T (p.Thr53=)
n.39C>T
 dbSNP
Xg.54042678G>CCA516566193PHF8c.51C>G (p.Thr17=)
c.159C>G (p.Thr53=)
n.39C>G
Xg.54042678G=CA2430051097PHF8c.51C= (p.Thr17=)
c.159C= (p.Thr53=)
n.39C=
Xg.54042678G>TCA516566194PHF8c.51C>A (p.Thr17=)
c.159C>A (p.Thr53=)
n.39C>A
 COSMIC COSMIC COSMIC COSMIC
Xg.54042679G>ACA413249794PHF8c.50C>T (p.Thr17Ile)
c.158C>T (p.Thr53Ile)
n.38C>T
Xg.54042679G>CCA413249795PHF8c.50C>G (p.Thr17Ser)
c.158C>G (p.Thr53Ser)
n.38C>G
Xg.54042679G>TCA413249796PHF8c.50C>A (p.Thr17Asn)
c.158C>A (p.Thr53Asn)
n.38C>A
Xg.54042680T>ACA413249799PHF8c.49A>T (p.Thr17Ser)
c.157A>T (p.Thr53Ser)
n.37A>T
Xg.54042680T>CCA413249798PHF8c.49A>G (p.Thr17Ala)
c.157A>G (p.Thr53Ala)
n.37A>G
Xg.54042680T>GCA413249797PHF8c.49A>C (p.Thr17Pro)
c.157A>C (p.Thr53Pro)
n.37A>C
Xg.54042681C>ACA516566196PHF8c.48G>T (p.Val16=)
c.156G>T (p.Val52=)
n.36G>T
Xg.54042681C>GCA516566197PHF8c.48G>C (p.Val16=)
c.156G>C (p.Val52=)
n.36G>C
Xg.54042681C>TCA516566198PHF8c.48G>A (p.Val16=)
c.156G>A (p.Val52=)
n.36G>A
Xg.54042682A>CCA413249800PHF8c.47T>G (p.Val16Gly)
c.155T>G (p.Val52Gly)
n.35T>G
Xg.54042682A>GCA413249801PHF8c.47T>C (p.Val16Ala)
c.155T>C (p.Val52Ala)
n.35T>C
Xg.54042682A>TCA413249802PHF8c.47T>A (p.Val16Glu)
c.155T>A (p.Val52Glu)
n.35T>A
Xg.54042683C>ACA413249803PHF8c.46G>T (p.Val16Leu)
c.154G>T (p.Val52Leu)
n.34G>T
Xg.54042683C>GCA413249804PHF8c.46G>C (p.Val16Leu)
c.154G>C (p.Val52Leu)
n.34G>C
Xg.54042683C>TCA413249805PHF8c.46G>A (p.Val16Met)
c.154G>A (p.Val52Met)
n.34G>A
 gnomAD v4
Xg.54042684A>CCA413249806PHF8c.45T>G (p.Asp15Glu)
c.153T>G (p.Asp51Glu)
n.33T>G
Xg.54042684A>GCA516566199PHF8c.45T>C (p.Asp15=)
c.153T>C (p.Asp51=)
n.33T>C
Xg.54042684A>TCA413249807PHF8c.45T>A (p.Asp15Glu)
c.153T>A (p.Asp51Glu)
n.33T>A
Xg.54042685T>ACA413249808PHF8c.44A>T (p.Asp15Val)
c.152A>T (p.Asp51Val)
n.32A>T
Xg.54042685T>CCA413249809PHF8c.44A>G (p.Asp15Gly)
c.152A>G (p.Asp51Gly)
n.32A>G
Xg.54042685T>GCA413249810PHF8c.44A>C (p.Asp15Ala)
c.152A>C (p.Asp51Ala)
n.32A>C
Xg.54042686C>ACA413249813PHF8c.43G>T (p.Asp15Tyr)
c.151G>T (p.Asp51Tyr)
n.31G>T
Xg.54042686C>GCA413249812PHF8c.43G>C (p.Asp15His)
c.151G>C (p.Asp51His)
n.31G>C
Xg.54042686C>TCA413249811PHF8c.43G>A (p.Asp15Asn)
c.151G>A (p.Asp51Asn)
n.31G>A
 COSMIC COSMIC COSMIC COSMIC
Xg.54042687G>ACA516566200PHF8c.42C>T (p.Tyr14=)
c.150C>T (p.Tyr50=)
n.30C>T
Xg.54042687G>CCA413249814PHF8c.42C>G (p.Tyr14Ter)
c.150C>G (p.Tyr50Ter)
n.30C>G
Xg.54042687G>TCA413249815PHF8c.42C>A (p.Tyr14Ter)
c.150C>A (p.Tyr50Ter)
n.30C>A
Xg.54042688T>ACA413249816PHF8c.41A>T (p.Tyr14Phe)
c.149A>T (p.Tyr50Phe)
n.29A>T
Xg.54042688T>CCA413249817PHF8c.41A>G (p.Tyr14Cys)
c.149A>G (p.Tyr50Cys)
n.29A>G
 gnomAD v4
Xg.54042688T>GCA413249818PHF8c.41A>C (p.Tyr14Ser)
c.149A>C (p.Tyr50Ser)
n.29A>C
Xg.54042689A>CCA413249819PHF8c.40T>G (p.Tyr14Asp)
c.148T>G (p.Tyr50Asp)
n.28T>G
Xg.54042689A>GCA413249820PHF8c.40T>C (p.Tyr14His)
c.148T>C (p.Tyr50His)
n.28T>C
Xg.54042689A>TCA413249821PHF8c.40T>A (p.Tyr14Asn)
c.148T>A (p.Tyr50Asn)
n.28T>A
Xg.54042690A>CCA516566203PHF8c.39T>G (p.Pro13=)
c.147T>G (p.Pro49=)
n.27T>G
Xg.54042690A>GCA516566202PHF8c.39T>C (p.Pro13=)
c.147T>C (p.Pro49=)
n.27T>C
Xg.54042690A>TCA516566201PHF8c.39T>A (p.Pro13=)
c.147T>A (p.Pro49=)
n.27T>A
Xg.54042691G>ACA413249822PHF8c.38C>T (p.Pro13Leu)
c.146C>T (p.Pro49Leu)
n.26C>T
Xg.54042691G>CCA413249823PHF8c.38C>G (p.Pro13Arg)
c.146C>G (p.Pro49Arg)
n.26C>G
Xg.54042691G>TCA413249824PHF8c.38C>A (p.Pro13His)
c.146C>A (p.Pro49His)
n.26C>A
Xg.54042692G>ACA413249827PHF8c.37C>T (p.Pro13Ser)
c.145C>T (p.Pro49Ser)
n.25C>T
Xg.54042692G>CCA413249826PHF8c.37C>G (p.Pro13Ala)
c.145C>G (p.Pro49Ala)
n.25C>G
Xg.54042692G>TCA413249825PHF8c.37C>A (p.Pro13Thr)
c.145C>A (p.Pro49Thr)
n.25C>A
Xg.54042693C>ACA516566204PHF8c.36G>T (p.Leu12=)
c.144G>T (p.Leu48=)
n.24G>T
Xg.54042693C>GCA516566206PHF8c.36G>C (p.Leu12=)
c.144G>C (p.Leu48=)
n.24G>C
Xg.54042693C>TCA516566205PHF8c.36G>A (p.Leu12=)
c.144G>A (p.Leu48=)
n.24G>A
Xg.54042694A>CCA413249828PHF8c.35T>G (p.Leu12Arg)
c.143T>G (p.Leu48Arg)
n.23T>G
Xg.54042694A>GCA413249829PHF8c.35T>C (p.Leu12Pro)
c.143T>C (p.Leu48Pro)
n.23T>C
Xg.54042694A>TCA413249830PHF8c.35T>A (p.Leu12Gln)
c.143T>A (p.Leu48Gln)
n.23T>A
Xg.54042695G>ACA516566207PHF8c.34C>T (p.Leu12=)
c.142C>T (p.Leu48=)
n.22C>T
 gnomAD v4
Xg.54042695G>CCA413249831PHF8c.34C>G (p.Leu12Val)
c.142C>G (p.Leu48Val)
n.22C>G
Xg.54042695G>TCA413249832PHF8c.34C>A (p.Leu12Met)
c.142C>A (p.Leu48Met)
n.22C>A
Xg.54042696C>ACA516566208PHF8c.33G>T (p.Arg11=)
c.141G>T (p.Arg47=)
n.21G>T
Xg.54042696C>GCA516566209PHF8c.33G>C (p.Arg11=)
c.141G>C (p.Arg47=)
n.21G>C
Xg.54042696C>TCA516566210PHF8c.33G>A (p.Arg11=)
c.141G>A (p.Arg47=)
n.21G>A
Xg.54042697C>ACA413249833PHF8c.32G>T (p.Arg11Leu)
c.140G>T (p.Arg47Leu)
n.20G>T
Xg.54042697C=CA2430051098PHF8c.32G= (p.Arg11=)
c.140G= (p.Arg47=)
n.20G=
Xg.54042697C>GCA413249834PHF8c.32G>C (p.Arg11Pro)
c.140G>C (p.Arg47Pro)
n.20G>C
Xg.54042697C>TCA413249835PHF8c.32G>A (p.Arg11Gln)
c.140G>A (p.Arg47Gln)
n.20G>A
 dbSNP
Xg.54042698G>ACA413249836PHF8c.31C>T (p.Arg11Trp)
c.139C>T (p.Arg47Trp)
n.19C>T
Xg.54042698G>CCA413249837PHF8c.31C>G (p.Arg11Gly)
c.139C>G (p.Arg47Gly)
n.19C>G
Xg.54042698G>TCA516566211PHF8c.31C>A (p.Arg11=)
c.139C>A (p.Arg47=)
n.19C>A
 gnomAD v4
Xg.54042699G>ACA516566212PHF8c.30C>T (p.Cys10=)
c.138C>T (p.Cys46=)
n.18C>T
 COSMIC COSMIC COSMIC COSMIC
Xg.54042699G>CCA413249838PHF8c.30C>G (p.Cys10Trp)
c.138C>G (p.Cys46Trp)
n.18C>G
Xg.54042699G>TCA413249839PHF8c.30C>A (p.Cys10Ter)
c.138C>A (p.Cys46Ter)
n.18C>A
Xg.54042700C>ACA413249841PHF8c.29G>T (p.Cys10Phe)
c.137G>T (p.Cys46Phe)
n.17G>T
Xg.54042700C>GCA413249842PHF8c.29G>C (p.Cys10Ser)
c.137G>C (p.Cys46Ser)
n.17G>C
Xg.54042700C>TCA413249840PHF8c.29G>A (p.Cys10Tyr)
c.137G>A (p.Cys46Tyr)
n.17G>A
Xg.54042701A>CCA413249845PHF8c.28T>G (p.Cys10Gly)
c.136T>G (p.Cys46Gly)
n.16T>G
Xg.54042701A>GCA413249843PHF8c.28T>C (p.Cys10Arg)
c.136T>C (p.Cys46Arg)
n.16T>C
Xg.54042701A>TCA413249844PHF8c.28T>A (p.Cys10Ser)
c.136T>A (p.Cys46Ser)
n.16T>A
Xg.54042702G>ACA516566213PHF8c.27C>T (p.Leu9=)
c.135C>T (p.Leu45=)
n.15C>T
Xg.54042702G>CCA516566214PHF8c.27C>G (p.Leu9=)
c.135C>G (p.Leu45=)
n.15C>G
Xg.54042702G>TCA516566215PHF8c.27C>A (p.Leu9=)
c.135C>A (p.Leu45=)
n.15C>A
Xg.54042703A>CCA413249846PHF8c.26T>G (p.Leu9Arg)
c.134T>G (p.Leu45Arg)
n.14T>G
Xg.54042703A>GCA413249847PHF8c.26T>C (p.Leu9Pro)
c.134T>C (p.Leu45Pro)
n.14T>C
Xg.54042703A>TCA413249848PHF8c.26T>A (p.Leu9His)
c.134T>A (p.Leu45His)
n.14T>A
Xg.54042704G>ACA413249851PHF8c.25C>T (p.Leu9Phe)
c.133C>T (p.Leu45Phe)
n.13C>T
 gnomAD v4
Xg.54042704G>CCA413249850PHF8c.25C>G (p.Leu9Val)
c.133C>G (p.Leu45Val)
n.13C>G
Xg.54042704G>TCA413249849PHF8c.25C>A (p.Leu9Ile)
c.133C>A (p.Leu45Ile)
n.13C>A
Xg.54042705G>ACA10423692PHF8c.24C>T (p.Cys8=)
c.132C>T (p.Cys44=)
n.12C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54042705G>CCA413249852PHF8c.24C>G (p.Cys8Trp)
c.132C>G (p.Cys44Trp)
n.12C>G
Xg.54042705G=CA2430051099PHF8c.24C= (p.Cys8=)
c.132C= (p.Cys44=)
n.12C=
Xg.54042705G>TCA413249853PHF8c.24C>A (p.Cys8Ter)
c.132C>A (p.Cys44Ter)
n.12C>A

Number of alleles fetched