| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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=) | |
| X | g.53378114C>A | CA2693802237 | SMC1A | c.*1989G>T (n.*1989G>T) | gnomAD v4 |
| X | g.53378125C>A | CA2693802238 | SMC1A | c.*1978G>T (n.*1978G>T) | gnomAD v4 |
| X | g.53378127G>A | CA1133194536 | SMC1A | c.*1976C>T (n.*1976C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53378127G= | CA2429816156 | SMC1A | c.*1976C= (n.*1976C=) | |
| X | g.53378130T>C | CA2429816158 | SMC1A | c.*1973A>G (n.*1973A>G) | dbSNP |
| X | g.53378130T= | CA2429816157 | SMC1A | c.*1973A= (n.*1973A=) | |
| X | g.53378133A= | CA2429816159 | SMC1A | c.*1970T= (n.*1970T=) | |
| X | g.53378133A>G | CA2429816160 | SMC1A | c.*1970T>C (n.*1970T>C) | dbSNP |
| X | g.53378134T>C | CA876268831 | SMC1A | c.*1969A>G (n.*1969A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53378134T= | CA2429816161 | SMC1A | c.*1969A= (n.*1969A=) | |
| X | g.53378136G>A | CA1139667582 | SMC1A | c.*1967C>T (n.*1967C>T) | ClinVar dbSNP |
| X | g.53378136G= | CA2429816162 | SMC1A | c.*1967C= (n.*1967C=) | |
| X | g.53378136G>T | CA2693802239 | SMC1A | c.*1967C>A (n.*1967C>A) | gnomAD v4 |
| X | g.53378139C>A | CA2693802240 | SMC1A | c.*1964G>T (n.*1964G>T) | gnomAD v4 |
| X | g.53378140A= | CA2429816163 | SMC1A | c.*1963T= (n.*1963T=) | |
| X | g.53378140A>G | CA329905948 | SMC1A | c.*1963T>C (n.*1963T>C) | dbSNP gnomAD v3 |
| X | g.53378142G>A | CA10646336 | SMC1A | c.*1961C>T (n.*1961C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53378142G= | CA2429816164 | SMC1A | c.*1961C= (n.*1961C=) |