Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53378010_53378013delinsTAGA | CA2429816127 | SMC1A | c.*2090_*2093delinsTCTA (n.*2090_*2093delinsTCTA) | |
X | g.53378015_53378017del | CA2429816128 | SMC1A | c.*2090_*2092del (n.*2090_*2092del) | dbSNP |
X | g.53378012G>C | CA876268781 | SMC1A | c.*2091C>G (n.*2091C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378012G= | CA2429816129 | SMC1A | c.*2091C= (n.*2091C=) | |
X | g.53378012G>T | CA2693802229 | SMC1A | c.*2091C>A (n.*2091C>A) | gnomAD v4 |
X | g.53378013A= | CA2429816130 | SMC1A | c.*2090T= (n.*2090T=) | |
X | g.53378013A>G | CA641884552 | SMC1A | c.*2090T>C (n.*2090T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378015G>A | CA329905943 | SMC1A | c.*2088C>T (n.*2088C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378015G= | CA2429816131 | SMC1A | c.*2088C= (n.*2088C=) | |
X | g.53378015G>T | CA2429816132 | SMC1A | c.*2088C>A (n.*2088C>A) | dbSNP |
X | g.53378017A= | CA2429816133 | SMC1A | c.*2086T= (n.*2086T=) | |
X | g.53378017A>G | CA876268789 | SMC1A | c.*2086T>C (n.*2086T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53378018T>C | CA329905944 | SMC1A | c.*2085A>G (n.*2085A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378018T= | CA2429816134 | SMC1A | c.*2085A= (n.*2085A=) | |
X | g.53378019A= | CA2429816135 | SMC1A | c.*2084T= (n.*2084T=) | |
X | g.53378019A>G | CA876268806 | SMC1A | c.*2084T>C (n.*2084T>C) | dbSNP |
X | g.53378022T>A | CA329905945 | SMC1A | c.*2081A>T (n.*2081A>T) | dbSNP |
X | g.53378022T= | CA2429816136 | SMC1A | c.*2081A= (n.*2081A=) | |
X | g.53378024A>G | CA2820953180 | SMC1A | c.*2079T>C (n.*2079T>C) | |
X | g.53378028G>A | CA329905946 | SMC1A | c.*2075C>T (n.*2075C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378028G= | CA2429816137 | SMC1A | c.*2075C= (n.*2075C=) | |
X | g.53378033C= | CA2429816138 | SMC1A | c.*2070G= (n.*2070G=) | |
X | g.53378033C>T | CA1133194523 | SMC1A | c.*2070G>A (n.*2070G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378036C>A | CA2693802230 | SMC1A | c.*2067G>T (n.*2067G>T) | gnomAD v4 |
X | g.53378041C>A | CA2569870572 | SMC1A | c.*2062G>T (n.*2062G>T) | gnomAD v4 |
X | g.53378047T>A | CA2693802231 | SMC1A | c.*2056A>T (n.*2056A>T) | gnomAD v4 |
X | g.53378051A>G | CA2693802232 | SMC1A | c.*2052T>C (n.*2052T>C) | gnomAD v4 |
X | g.53378053A= | CA2429816139 | SMC1A | c.*2050T= (n.*2050T=) | |
X | g.53378053A>G | CA10646330 | SMC1A | c.*2050T>C (n.*2050T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53378054G>A | CA2820953181 | SMC1A | c.*2049C>T (n.*2049C>T) | |
X | g.53378055A= | CA2429816140 | SMC1A | c.*2048T= (n.*2048T=) | |
X | g.53378056dup | CA641884578 | SMC1A | c.*2047dup (n.*2047dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378058T>C | CA876268823 | SMC1A | c.*2045A>G (n.*2045A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378058T= | CA2429816141 | SMC1A | c.*2045A= (n.*2045A=) | |
X | g.53378059C>T | CA2569719908 | SMC1A | c.*2044G>A (n.*2044G>A) | |
X | g.53378066T>C | CA2820953182 | SMC1A | c.*2037A>G (n.*2037A>G) | |
X | g.53378069G>A | CA2429816143 | SMC1A | c.*2034C>T (n.*2034C>T) | dbSNP |
X | g.53378069G= | CA2429816142 | SMC1A | c.*2034C= (n.*2034C=) | |
X | g.53378074A>G | CA2693802233 | SMC1A | c.*2029T>C (n.*2029T>C) | gnomAD v4 |
X | g.53378077T>C | CA2594863540 | SMC1A | c.*2026A>G (n.*2026A>G) | gnomAD v3 gnomAD v4 |
X | g.53378078G= | CA2429816144 | SMC1A | c.*2025C= (n.*2025C=) | |
X | g.53378078G>T | CA1133194530 | SMC1A | c.*2025C>A (n.*2025C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378079A= | CA2429816145 | SMC1A | c.*2024T= (n.*2024T=) | |
X | g.53378079A>G | CA641884583 | SMC1A | c.*2024T>C (n.*2024T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378082T>C | CA2429816147 | SMC1A | c.*2021A>G (n.*2021A>G) | dbSNP |
X | g.53378082T= | CA2429816146 | SMC1A | c.*2021A= (n.*2021A=) | |
X | g.53378084G>T | CA2693802234 | SMC1A | c.*2019C>A (n.*2019C>A) | gnomAD v4 |
X | g.53378085_53378091delinsGATAACA | CA2429816148 | SMC1A | c.*2012_*2018delinsTGTTATC (n.*2012_*2018delinsTGTTATC) | |
X | g.53378086A= | CA2429816150 | SMC1A | c.*2017T= (n.*2017T=) | |
X | g.53378086A>G | CA2429816151 | SMC1A | c.*2017T>C (n.*2017T>C) | dbSNP |
X | g.53378088_53378093del | CA2429816149 | SMC1A | c.*2012_*2017del (n.*2012_*2017del) | dbSNP |
X | g.53378099A>T | CA2693802235 | SMC1A | c.*2004T>A (n.*2004T>A) | gnomAD v4 |
X | g.53378100C>A | CA2693802236 | SMC1A | c.*2003G>T (n.*2003G>T) | gnomAD v4 |
X | g.53378100C= | CA2429816152 | SMC1A | c.*2003G= (n.*2003G=) | |
X | g.53378100C>T | CA1133194534 | SMC1A | c.*2003G>A (n.*2003G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378105G= | CA2429816153 | SMC1A | c.*1998C= (n.*1998C=) | |
X | g.53378105G>T | CA2429816154 | SMC1A | c.*1998C>A (n.*1998C>A) | dbSNP gnomAD v4 |
X | g.53378107T>C | CA329905947 | SMC1A | c.*1996A>G (n.*1996A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378107T= | CA2429816155 | SMC1A | c.*1996A= (n.*1996A=) |