Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627161C>A | CA2657593828 | ARSA | c.465+5G>T (n.465+5G>T) c.207+5G>T (n.207+5G>T) n.861G>T | gnomAD v4 |
22 | g.50627161C= | CA2410959457 | ARSA | c.465+5G= (n.465+5G=) c.207+5G= (n.207+5G=) n.861G= | |
22 | g.50627161C>G | CA2410959458 | ARSA | c.465+5G>C (n.465+5G>C) c.207+5G>C (n.207+5G>C) n.861G>C | dbSNP gnomAD v4 |
22 | g.50627161C>T | CA10325027 | ARSA | c.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 |
22 | g.50627162C= | CA2410959459 | ARSA | c.465+4G= (n.465+4G=) c.207+4G= (n.207+4G=) n.860G= | |
22 | g.50627162C>T | CA10325028 | ARSA | c.465+4G>A (n.465+4G>A) c.207+4G>A (n.207+4G>A) n.860G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627163T>C | CA2410959461 | ARSA | c.465+3A>G (n.465+3A>G) c.207+3A>G (n.207+3A>G) n.859A>G | ClinVar dbSNP |
22 | g.50627163T= | CA2410959460 | ARSA | c.465+3A= (n.465+3A=) c.207+3A= (n.207+3A=) n.859A= | |
22 | g.50627164A= | CA2410959462 | ARSA | c.465+2T= (n.465+2T=) c.207+2T= (n.207+2T=) n.858T= | |
22 | g.50627164A>C | CA412179885 | ARSA | c.465+2T>G (n.465+2T>G) c.207+2T>G (n.207+2T>G) n.858T>G | |
22 | g.50627164A>G | CA412179888 | ARSA | c.465+2T>C (n.465+2T>C) c.207+2T>C (n.207+2T>C) n.858T>C | |
22 | g.50627164A>T | CA412179890 | ARSA | c.465+2T>A (n.465+2T>A) c.207+2T>A (n.207+2T>A) n.858T>A | ClinVar dbSNP |
22 | g.50627165C>A | CA412179894 | ARSA | c.465+1G>T (n.465+1G>T) c.207+1G>T (n.207+1G>T) n.857G>T | |
22 | g.50627165C= | CA2410959463 | ARSA | c.465+1G= (n.465+1G=) c.207+1G= (n.207+1G=) n.857G= | |
22 | g.50627165C>G | CA412179895 | ARSA | c.465+1G>C (n.465+1G>C) c.207+1G>C (n.207+1G>C) n.857G>C | |
22 | g.50627165C>T | CA215122 | ARSA | c.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 |
22 | g.50627166C>A | CA412179897 | ARSA | c.465G>T (p.Gln155His) c.207G>T (p.Gln69His) n.856G>T | |
22 | g.50627166C= | CA2410959464 | ARSA | c.465G= (p.Gln155=) c.207G= (p.Gln69=) n.856G= | |
22 | g.50627166C>G | CA219028 | ARSA | c.465G>C (p.Gln155His) c.207G>C (p.Gln69His) n.856G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627166C>T | CA233477 | ARSA | c.465G>A (p.Gln155=) c.207G>A (p.Gln69=) n.856G>A | ClinVar dbSNP |
22 | g.50627167T>A | CA412179923 | ARSA | c.464A>T (p.Gln155Leu) c.206A>T (p.Gln69Leu) n.855A>T | |
22 | g.50627167T>C | CA412179917 | ARSA | c.464A>G (p.Gln155Arg) c.206A>G (p.Gln69Arg) n.855A>G | gnomAD v4 |
22 | g.50627167T>G | CA412179915 | ARSA | c.464A>C (p.Gln155Pro) c.206A>C (p.Gln69Pro) n.855A>C | |
22 | g.50627168G>A | CA412179928 | ARSA | c.463C>T (p.Gln155Ter) c.205C>T (p.Gln69Ter) n.854C>T | |
22 | g.50627168G>C | CA412179930 | ARSA | c.463C>G (p.Gln155Glu) c.205C>G (p.Gln69Glu) n.854C>G | |
22 | g.50627168G>T | CA412179933 | ARSA | c.463C>A (p.Gln155Lys) c.205C>A (p.Gln69Lys) n.854C>A | |
22 | g.50627169G>A | CA10325029 | ARSA | c.462C>T (p.Asp154=) c.204C>T (p.Asp68=) n.853C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627169G>C | CA412179940 | ARSA | c.462C>G (p.Asp154Glu) c.204C>G (p.Asp68Glu) n.853C>G | |
22 | g.50627169G= | CA2410959465 | ARSA | c.462C= (p.Asp154=) c.204C= (p.Asp68=) n.853C= | |
22 | g.50627169G>T | CA412179942 | ARSA | c.462C>A (p.Asp154Glu) c.204C>A (p.Asp68Glu) n.853C>A | |
22 | g.50627170T>A | CA412179947 | ARSA | c.461A>T (p.Asp154Val) c.203A>T (p.Asp68Val) n.852A>T | |
22 | g.50627170T>C | CA412179951 | ARSA | c.461A>G (p.Asp154Gly) c.203A>G (p.Asp68Gly) n.852A>G | |
22 | g.50627170T>G | CA412179953 | ARSA | c.461A>C (p.Asp154Ala) c.203A>C (p.Asp68Ala) n.852A>C | |
22 | g.50627171C>A | CA219026 | ARSA | c.460G>T (p.Asp154Tyr) c.202G>T (p.Asp68Tyr) n.851G>T | ClinVar dbSNP |
22 | g.50627171C= | CA2410959466 | ARSA | c.460G= (p.Asp154=) c.202G= (p.Asp68=) n.851G= | |
22 | g.50627171C>G | CA10325030 | ARSA | c.460G>C (p.Asp154His) c.202G>C (p.Asp68His) n.851G>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.50627171C>T | CA412179968 | ARSA | c.460G>A (p.Asp154Asn) c.202G>A (p.Asp68Asn) n.851G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627172G>A | CA146673 | ARSA | c.459C>T (p.His153=) c.201C>T (p.His67=) n.850C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627172G>C | CA412179975 | ARSA | c.459C>G (p.His153Gln) c.201C>G (p.His67Gln) n.850C>G | |
22 | g.50627172G= | CA2410959467 | ARSA | c.459C= (p.His153=) c.201C= (p.His67=) n.850C= | |
22 | g.50627172G>T | CA412179971 | ARSA | c.459C>A (p.His153Gln) c.201C>A (p.His67Gln) n.850C>A | |
22 | g.50627173T>A | CA412179982 | ARSA | c.458A>T (p.His153Leu) c.200A>T (p.His67Leu) n.849A>T | |
22 | g.50627173T>C | CA412179986 | ARSA | c.458A>G (p.His153Arg) c.200A>G (p.His67Arg) n.849A>G | dbSNP |
22 | g.50627173T>G | CA412179984 | ARSA | c.458A>C (p.His153Pro) c.200A>C (p.His67Pro) n.849A>C | |
22 | g.50627173T= | CA2410959468 | ARSA | c.458A= (p.His153=) c.200A= (p.His67=) n.849A= | |
22 | g.50627174G>A | CA412179992 | ARSA | c.457C>T (p.His153Tyr) c.199C>T (p.His67Tyr) n.848C>T | COSMIC |
22 | g.50627174G>C | CA412179997 | ARSA | c.457C>G (p.His153Asp) c.199C>G (p.His67Asp) n.848C>G | |
22 | g.50627174G>T | CA412179994 | ARSA | c.457C>A (p.His153Asn) c.199C>A (p.His67Asn) n.848C>A | |
22 | g.50627175G>A | CA515391324 | ARSA | c.456C>T (p.Ser152=) c.198C>T (p.Ser66=) n.847C>T | dbSNP gnomAD v2 |
22 | g.50627175G>C | CA515391326 | ARSA | c.456C>G (p.Ser152=) c.198C>G (p.Ser66=) n.847C>G |