Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50627161C>ACA2657593828ARSAc.465+5G>T (n.465+5G>T)
c.207+5G>T (n.207+5G>T)
n.861G>T
gnomAD v4
22g.50627161C=CA2410959457ARSAc.465+5G= (n.465+5G=)
c.207+5G= (n.207+5G=)
n.861G=
22g.50627161C>GCA2410959458ARSAc.465+5G>C (n.465+5G>C)
c.207+5G>C (n.207+5G>C)
n.861G>C
dbSNP gnomAD v4
22g.50627161C>TCA10325027ARSAc.465+5G>A (n.465+5G>A)
c.207+5G>A (n.207+5G>A)
n.861G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627162C=CA2410959459ARSAc.465+4G= (n.465+4G=)
c.207+4G= (n.207+4G=)
n.860G=
22g.50627162C>TCA10325028ARSAc.465+4G>A (n.465+4G>A)
c.207+4G>A (n.207+4G>A)
n.860G>A
dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627163T>CCA2410959461ARSAc.465+3A>G (n.465+3A>G)
c.207+3A>G (n.207+3A>G)
n.859A>G
ClinVar dbSNP
22g.50627163T=CA2410959460ARSAc.465+3A= (n.465+3A=)
c.207+3A= (n.207+3A=)
n.859A=
22g.50627164A=CA2410959462ARSAc.465+2T= (n.465+2T=)
c.207+2T= (n.207+2T=)
n.858T=
22g.50627164A>CCA412179885ARSAc.465+2T>G (n.465+2T>G)
c.207+2T>G (n.207+2T>G)
n.858T>G
22g.50627164A>GCA412179888ARSAc.465+2T>C (n.465+2T>C)
c.207+2T>C (n.207+2T>C)
n.858T>C
22g.50627164A>TCA412179890ARSAc.465+2T>A (n.465+2T>A)
c.207+2T>A (n.207+2T>A)
n.858T>A
ClinVar dbSNP
22g.50627165C>ACA412179894ARSAc.465+1G>T (n.465+1G>T)
c.207+1G>T (n.207+1G>T)
n.857G>T
22g.50627165C=CA2410959463ARSAc.465+1G= (n.465+1G=)
c.207+1G= (n.207+1G=)
n.857G=
22g.50627165C>GCA412179895ARSAc.465+1G>C (n.465+1G>C)
c.207+1G>C (n.207+1G>C)
n.857G>C
22g.50627165C>TCA215122ARSAc.465+1G>A (n.465+1G>A)
c.207+1G>A (n.207+1G>A)
n.857G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627166C>ACA412179897ARSAc.465G>T (p.Gln155His)
c.207G>T (p.Gln69His)
n.856G>T
22g.50627166C=CA2410959464ARSAc.465G= (p.Gln155=)
c.207G= (p.Gln69=)
n.856G=
22g.50627166C>GCA219028ARSAc.465G>C (p.Gln155His)
c.207G>C (p.Gln69His)
n.856G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627166C>TCA233477ARSAc.465G>A (p.Gln155=)
c.207G>A (p.Gln69=)
n.856G>A
ClinVar dbSNP
22g.50627167T>ACA412179923ARSAc.464A>T (p.Gln155Leu)
c.206A>T (p.Gln69Leu)
n.855A>T
22g.50627167T>CCA412179917ARSAc.464A>G (p.Gln155Arg)
c.206A>G (p.Gln69Arg)
n.855A>G
gnomAD v4
22g.50627167T>GCA412179915ARSAc.464A>C (p.Gln155Pro)
c.206A>C (p.Gln69Pro)
n.855A>C
22g.50627168G>ACA412179928ARSAc.463C>T (p.Gln155Ter)
c.205C>T (p.Gln69Ter)
n.854C>T
22g.50627168G>CCA412179930ARSAc.463C>G (p.Gln155Glu)
c.205C>G (p.Gln69Glu)
n.854C>G
22g.50627168G>TCA412179933ARSAc.463C>A (p.Gln155Lys)
c.205C>A (p.Gln69Lys)
n.854C>A
22g.50627169G>ACA10325029ARSAc.462C>T (p.Asp154=)
c.204C>T (p.Asp68=)
n.853C>T
dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627169G>CCA412179940ARSAc.462C>G (p.Asp154Glu)
c.204C>G (p.Asp68Glu)
n.853C>G
22g.50627169G=CA2410959465ARSAc.462C= (p.Asp154=)
c.204C= (p.Asp68=)
n.853C=
22g.50627169G>TCA412179942ARSAc.462C>A (p.Asp154Glu)
c.204C>A (p.Asp68Glu)
n.853C>A
22g.50627170T>ACA412179947ARSAc.461A>T (p.Asp154Val)
c.203A>T (p.Asp68Val)
n.852A>T
22g.50627170T>CCA412179951ARSAc.461A>G (p.Asp154Gly)
c.203A>G (p.Asp68Gly)
n.852A>G
22g.50627170T>GCA412179953ARSAc.461A>C (p.Asp154Ala)
c.203A>C (p.Asp68Ala)
n.852A>C
22g.50627171C>ACA219026ARSAc.460G>T (p.Asp154Tyr)
c.202G>T (p.Asp68Tyr)
n.851G>T
ClinVar dbSNP
22g.50627171C=CA2410959466ARSAc.460G= (p.Asp154=)
c.202G= (p.Asp68=)
n.851G=
22g.50627171C>GCA10325030ARSAc.460G>C (p.Asp154His)
c.202G>C (p.Asp68His)
n.851G>C
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
22g.50627171C>TCA412179968ARSAc.460G>A (p.Asp154Asn)
c.202G>A (p.Asp68Asn)
n.851G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627172G>ACA146673ARSAc.459C>T (p.His153=)
c.201C>T (p.His67=)
n.850C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627172G>CCA412179975ARSAc.459C>G (p.His153Gln)
c.201C>G (p.His67Gln)
n.850C>G
22g.50627172G=CA2410959467ARSAc.459C= (p.His153=)
c.201C= (p.His67=)
n.850C=
22g.50627172G>TCA412179971ARSAc.459C>A (p.His153Gln)
c.201C>A (p.His67Gln)
n.850C>A
22g.50627173T>ACA412179982ARSAc.458A>T (p.His153Leu)
c.200A>T (p.His67Leu)
n.849A>T
22g.50627173T>CCA412179986ARSAc.458A>G (p.His153Arg)
c.200A>G (p.His67Arg)
n.849A>G
dbSNP
22g.50627173T>GCA412179984ARSAc.458A>C (p.His153Pro)
c.200A>C (p.His67Pro)
n.849A>C
22g.50627173T=CA2410959468ARSAc.458A= (p.His153=)
c.200A= (p.His67=)
n.849A=
22g.50627174G>ACA412179992ARSAc.457C>T (p.His153Tyr)
c.199C>T (p.His67Tyr)
n.848C>T
COSMIC
22g.50627174G>CCA412179997ARSAc.457C>G (p.His153Asp)
c.199C>G (p.His67Asp)
n.848C>G
22g.50627174G>TCA412179994ARSAc.457C>A (p.His153Asn)
c.199C>A (p.His67Asn)
n.848C>A
22g.50627175G>ACA515391324ARSAc.456C>T (p.Ser152=)
c.198C>T (p.Ser66=)
n.847C>T
dbSNP gnomAD v2
22g.50627175G>CCA515391326ARSAc.456C>G (p.Ser152=)
c.198C>G (p.Ser66=)
n.847C>G

Number of alleles fetched