Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31526134T>A | CA425566447 | SRD5A2 | c.*62A>T (n.*62A>T) | |
2 | g.31526134T>C | CA425566448 | SRD5A2 | c.*62A>G (n.*62A>G) | |
2 | g.31526134T>G | CA425566446 | SRD5A2 | c.*62A>C (n.*62A>C) | |
2 | g.31526135C>A | CA425566449 | SRD5A2 | c.*61G>T (n.*61G>T) | |
2 | g.31526135C>G | CA425566450 | SRD5A2 | c.*61G>C (n.*61G>C) | gnomAD v3 gnomAD v4 |
2 | g.31526135C>T | CA425566451 | SRD5A2 | c.*61G>A (n.*61G>A) | |
2 | g.31526136A>C | CA425566452 | SRD5A2 | c.*60T>G (n.*60T>G) | |
2 | g.31526136A>G | CA425566453 | SRD5A2 | c.*60T>C (n.*60T>C) | gnomAD v4 |
2 | g.31526136A>T | CA425566454 | SRD5A2 | c.*60T>A (n.*60T>A) | gnomAD v4 |
2 | g.31526136dup | CA2658512514 | SRD5A2 | c.*60dup (n.*60dup) | gnomAD v4 |
2 | g.31526137G>A | CA425566457 | SRD5A2 | c.*59C>T (n.*59C>T) | |
2 | g.31526137G>C | CA425566456 | SRD5A2 | c.*59C>G (n.*59C>G) | |
2 | g.31526137G>T | CA425566455 | SRD5A2 | c.*59C>A (n.*59C>A) | gnomAD v3 gnomAD v4 |
2 | g.31526138C>A | CA425566458 | SRD5A2 | c.*58G>T (n.*58G>T) | gnomAD v4 |
2 | g.31526138C>G | CA425566459 | SRD5A2 | c.*58G>C (n.*58G>C) | |
2 | g.31526138C>T | CA425566460 | SRD5A2 | c.*58G>A (n.*58G>A) | gnomAD v4 |
2 | g.31526139A>C | CA425566461 | SRD5A2 | c.*57T>G (n.*57T>G) | |
2 | g.31526139A>G | CA425566462 | SRD5A2 | c.*57T>C (n.*57T>C) | gnomAD v4 |
2 | g.31526139A>T | CA425566463 | SRD5A2 | c.*57T>A (n.*57T>A) | |
2 | g.31526140G>A | CA425566464 | SRD5A2 | c.*56C>T (n.*56C>T) | |
2 | g.31526140G>C | CA425566466 | SRD5A2 | c.*56C>G (n.*56C>G) | |
2 | g.31526140G>T | CA425566465 | SRD5A2 | c.*56C>A (n.*56C>A) | gnomAD v4 |
2 | g.31526141C>A | CA425566467 | SRD5A2 | c.*55G>T (n.*55G>T) | gnomAD v3 gnomAD v4 |
2 | g.31526141C= | CA1242195907 | SRD5A2 | c.*55G= (n.*55G=) | |
2 | g.31526141C>G | CA425566468 | SRD5A2 | c.*55G>C (n.*55G>C) | |
2 | g.31526141C>T | CA45135967 | SRD5A2 | c.*55G>A (n.*55G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526142T>A | CA425566469 | SRD5A2 | c.*54A>T (n.*54A>T) | |
2 | g.31526142T>C | CA425566470 | SRD5A2 | c.*54A>G (n.*54A>G) | gnomAD v4 |
2 | g.31526142T>G | CA425566471 | SRD5A2 | c.*54A>C (n.*54A>C) | |
2 | g.31526143T>A | CA425566472 | SRD5A2 | c.*53A>T (n.*53A>T) | |
2 | g.31526143T>C | CA425566473 | SRD5A2 | c.*53A>G (n.*53A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526143T>G | CA425566474 | SRD5A2 | c.*53A>C (n.*53A>C) | |
2 | g.31526143T= | CA1242195908 | SRD5A2 | c.*53A= (n.*53A=) | |
2 | g.31526144G>A | CA425566475 | SRD5A2 | c.*52C>T (n.*52C>T) | gnomAD v4 |
2 | g.31526144G>C | CA425566476 | SRD5A2 | c.*52C>G (n.*52C>G) | dbSNP gnomAD v4 |
2 | g.31526144G= | CA1242195909 | SRD5A2 | c.*52C= (n.*52C=) | |
2 | g.31526144G>T | CA425566477 | SRD5A2 | c.*52C>A (n.*52C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526145A>C | CA425566478 | SRD5A2 | c.*51T>G (n.*51T>G) | |
2 | g.31526145A>G | CA425566480 | SRD5A2 | c.*51T>C (n.*51T>C) | |
2 | g.31526145A>T | CA425566479 | SRD5A2 | c.*51T>A (n.*51T>A) | gnomAD v4 |
2 | g.31526146C>A | CA1599841 | SRD5A2 | c.*50G>T (n.*50G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526146C= | CA1242195910 | SRD5A2 | c.*50G= (n.*50G=) | |
2 | g.31526146C>G | CA425566481 | SRD5A2 | c.*50G>C (n.*50G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526146C>T | CA425566482 | SRD5A2 | c.*50G>A (n.*50G>A) | gnomAD v4 |
2 | g.31526147A= | CA1242195911 | SRD5A2 | c.*49T= (n.*49T=) | |
2 | g.31526147A>C | CA425566483 | SRD5A2 | c.*49T>G (n.*49T>G) | |
2 | g.31526147A>G | CA1599842 | SRD5A2 | c.*49T>C (n.*49T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526147A>T | CA425566484 | SRD5A2 | c.*49T>A (n.*49T>A) | |
2 | g.31526147dup | CA2658512515 | SRD5A2 | c.*49dup (n.*49dup) | gnomAD v4 |
2 | g.31526148G>A | CA425566485 | SRD5A2 | c.*48C>T (n.*48C>T) | gnomAD v4 |
2 | g.31526148G>C | CA425566486 | SRD5A2 | c.*48C>G (n.*48C>G) | dbSNP |
2 | g.31526148G= | CA1242195912 | SRD5A2 | c.*48C= (n.*48C=) | |
2 | g.31526148G>T | CA425566487 | SRD5A2 | c.*48C>A (n.*48C>A) | gnomAD v4 |
2 | g.31526149T>A | CA425566488 | SRD5A2 | c.*47A>T (n.*47A>T) | |
2 | g.31526149T>C | CA425566489 | SRD5A2 | c.*47A>G (n.*47A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526149T>G | CA425566490 | SRD5A2 | c.*47A>C (n.*47A>C) | |
2 | g.31526149T= | CA1242195913 | SRD5A2 | c.*47A= (n.*47A=) | |
2 | g.31526150T>A | CA425566493 | SRD5A2 | c.*46A>T (n.*46A>T) | |
2 | g.31526150T>C | CA425566492 | SRD5A2 | c.*46A>G (n.*46A>G) | gnomAD v4 |
2 | g.31526150T>G | CA425566491 | SRD5A2 | c.*46A>C (n.*46A>C) | |
2 | g.31526151T>A | CA425566494 | SRD5A2 | c.*45A>T (n.*45A>T) | |
2 | g.31526151T>C | CA425566495 | SRD5A2 | c.*45A>G (n.*45A>G) | gnomAD v4 |
2 | g.31526151T>G | CA425566496 | SRD5A2 | c.*45A>C (n.*45A>C) | |
2 | g.31526152T>A | CA425566497 | SRD5A2 | c.*44A>T (n.*44A>T) | |
2 | g.31526152T>C | CA425566498 | SRD5A2 | c.*44A>G (n.*44A>G) | |
2 | g.31526152T>G | CA425566499 | SRD5A2 | c.*44A>C (n.*44A>C) | gnomAD v4 |
2 | g.31526152_31526158delinsTCATCAG | CA1242195914 | SRD5A2 | c.*38_*44delinsCTGATGA (n.*38_*44delinsCTGATGA) | |
2 | g.31526153C>A | CA425566500 | SRD5A2 | c.*43G>T (n.*43G>T) | gnomAD v4 |
2 | g.31526153C= | CA1242195916 | SRD5A2 | c.*43G= (n.*43G=) | |
2 | g.31526153C>G | CA425566501 | SRD5A2 | c.*43G>C (n.*43G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526153C>T | CA1599843 | SRD5A2 | c.*43G>A (n.*43G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526156_31526161del | CA1242195915 | SRD5A2 | c.*38_*43del (n.*38_*43del) | dbSNP |
2 | g.31526154A= | CA1242195917 | SRD5A2 | c.*42T= (n.*42T=) | |
2 | g.31526154A>C | CA425566502 | SRD5A2 | c.*42T>G (n.*42T>G) | |
2 | g.31526154A>G | CA425566503 | SRD5A2 | c.*42T>C (n.*42T>C) | dbSNP |
2 | g.31526154A>T | CA425566504 | SRD5A2 | c.*42T>A (n.*42T>A) | |
2 | g.31526155T>A | CA425566505 | SRD5A2 | c.*41A>T (n.*41A>T) | dbSNP gnomAD v4 |
2 | g.31526155T>C | CA425566506 | SRD5A2 | c.*41A>G (n.*41A>G) | gnomAD v4 |
2 | g.31526155T>G | CA45135968 | SRD5A2 | c.*41A>C (n.*41A>C) | dbSNP |
2 | g.31526155T= | CA1242195918 | SRD5A2 | c.*41A= (n.*41A=) | |
2 | g.31526156C>A | CA425566507 | SRD5A2 | c.*40G>T (n.*40G>T) | gnomAD v4 |
2 | g.31526156C>G | CA425566509 | SRD5A2 | c.*40G>C (n.*40G>C) | gnomAD v4 |
2 | g.31526156C>T | CA425566508 | SRD5A2 | c.*40G>A (n.*40G>A) | gnomAD v4 |
2 | g.31526157del | CA2658512516 | SRD5A2 | c.*39del (n.*39del) | gnomAD v4 |
2 | g.31526157A= | CA1242195919 | SRD5A2 | c.*39T= (n.*39T=) | |
2 | g.31526157A>C | CA425566510 | SRD5A2 | c.*39T>G (n.*39T>G) | |
2 | g.31526157A>G | CA45135969 | SRD5A2 | c.*39T>C (n.*39T>C) | dbSNP |
2 | g.31526157A>T | CA425566511 | SRD5A2 | c.*39T>A (n.*39T>A) | |
2 | g.31526158G>A | CA425566512 | SRD5A2 | c.*38C>T (n.*38C>T) | gnomAD v4 |
2 | g.31526158G>C | CA425566513 | SRD5A2 | c.*38C>G (n.*38C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526158G= | CA1242195920 | SRD5A2 | c.*38C= (n.*38C=) | |
2 | g.31526158G>T | CA425566514 | SRD5A2 | c.*38C>A (n.*38C>A) | gnomAD v4 |
2 | g.31526159C>A | CA425566515 | SRD5A2 | c.*37G>T (n.*37G>T) | gnomAD v4 |
2 | g.31526159C>G | CA425566516 | SRD5A2 | c.*37G>C (n.*37G>C) | |
2 | g.31526159C>T | CA425566517 | SRD5A2 | c.*37G>A (n.*37G>A) | gnomAD v4 |
2 | g.31526160A>C | CA425566518 | SRD5A2 | c.*36T>G (n.*36T>G) | |
2 | g.31526160A>G | CA425566519 | SRD5A2 | c.*36T>C (n.*36T>C) | |
2 | g.31526160A>T | CA425566520 | SRD5A2 | c.*36T>A (n.*36T>A) | |
2 | g.31526161T>A | CA425566521 | SRD5A2 | c.*35A>T (n.*35A>T) | gnomAD v4 |
2 | g.31526161T>C | CA1599844 | SRD5A2 | c.*35A>G (n.*35A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31526161T>G | CA425566522 | SRD5A2 | c.*35A>C (n.*35A>C) | |
2 | g.31526161T= | CA1242195921 | SRD5A2 | c.*35A= (n.*35A=) | |
2 | g.31526162T>A | CA425566523 | SRD5A2 | c.*34A>T (n.*34A>T) | |
2 | g.31526162T>C | CA425566525 | SRD5A2 | c.*34A>G (n.*34A>G) | |
2 | g.31526162T>G | CA425566524 | SRD5A2 | c.*34A>C (n.*34A>C) | gnomAD v4 |
2 | g.31526164_31526165del | CA2576929359 | SRD5A2 | c.*33_*34del (n.*33_*34del) | |
2 | g.31526163G>A | CA45135970 | SRD5A2 | c.*33C>T (n.*33C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526163G>C | CA425566526 | SRD5A2 | c.*33C>G (n.*33C>G) | |
2 | g.31526163G= | CA1242195922 | SRD5A2 | c.*33C= (n.*33C=) | |
2 | g.31526163G>T | CA425566527 | SRD5A2 | c.*33C>A (n.*33C>A) | gnomAD v4 |
2 | g.31526164T>A | CA425566528 | SRD5A2 | c.*32A>T (n.*32A>T) | |
2 | g.31526164T>C | CA425566529 | SRD5A2 | c.*32A>G (n.*32A>G) | gnomAD v4 |
2 | g.31526164T>G | CA425566530 | SRD5A2 | c.*32A>C (n.*32A>C) | |
2 | g.31526165G>A | CA425566531 | SRD5A2 | c.*31C>T (n.*31C>T) | gnomAD v4 |
2 | g.31526165G>C | CA425566532 | SRD5A2 | c.*31C>G (n.*31C>G) | |
2 | g.31526165G>T | CA425566533 | SRD5A2 | c.*31C>A (n.*31C>A) | gnomAD v4 |
2 | g.31526167del | CA2658512517 | SRD5A2 | c.*31del (n.*31del) | gnomAD v4 |
2 | g.31526166G>A | CA425566536 | SRD5A2 | c.*30C>T (n.*30C>T) | gnomAD v4 |
2 | g.31526166G>C | CA425566535 | SRD5A2 | c.*30C>G (n.*30C>G) | |
2 | g.31526166G>T | CA425566534 | SRD5A2 | c.*30C>A (n.*30C>A) | gnomAD v4 |
2 | g.31526167G>A | CA425566537 | SRD5A2 | c.*29C>T (n.*29C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526167G>C | CA425566538 | SRD5A2 | c.*29C>G (n.*29C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526167G= | CA1242195923 | SRD5A2 | c.*29C= (n.*29C=) | |
2 | g.31526167G>T | CA425566539 | SRD5A2 | c.*29C>A (n.*29C>A) | gnomAD v4 |
2 | g.31526168A>C | CA425566540 | SRD5A2 | c.*28T>G (n.*28T>G) | |
2 | g.31526168A>G | CA425566541 | SRD5A2 | c.*28T>C (n.*28T>C) | gnomAD v4 |
2 | g.31526168A>T | CA425566542 | SRD5A2 | c.*28T>A (n.*28T>A) | gnomAD v4 |
2 | g.31526169G>A | CA425566543 | SRD5A2 | c.*27C>T (n.*27C>T) | gnomAD v4 |
2 | g.31526169G>C | CA425566544 | SRD5A2 | c.*27C>G (n.*27C>G) | |
2 | g.31526169G>T | CA425566545 | SRD5A2 | c.*27C>A (n.*27C>A) | gnomAD v4 |
2 | g.31526170C>A | CA45135971 | SRD5A2 | c.*26G>T (n.*26G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526170C= | CA1242195924 | SRD5A2 | c.*26G= (n.*26G=) | |
2 | g.31526170C>G | CA425566546 | SRD5A2 | c.*26G>C (n.*26G>C) | |
2 | g.31526170C>T | CA425566547 | SRD5A2 | c.*26G>A (n.*26G>A) | gnomAD v4 |
2 | g.31526171T>A | CA425566550 | SRD5A2 | c.*25A>T (n.*25A>T) | gnomAD v4 |
2 | g.31526171T>C | CA425566548 | SRD5A2 | c.*25A>G (n.*25A>G) | gnomAD v4 |
2 | g.31526171T>G | CA425566549 | SRD5A2 | c.*25A>C (n.*25A>C) | |
2 | g.31526172C>A | CA425566551 | SRD5A2 | c.*24G>T (n.*24G>T) | |
2 | g.31526172C= | CA1242195925 | SRD5A2 | c.*24G= (n.*24G=) | |
2 | g.31526172C>G | CA425566552 | SRD5A2 | c.*24G>C (n.*24G>C) | gnomAD v4 |
2 | g.31526172C>T | CA425566553 | SRD5A2 | c.*24G>A (n.*24G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526173T>A | CA425566554 | SRD5A2 | c.*23A>T (n.*23A>T) | gnomAD v4 |
2 | g.31526173T>C | CA425566555 | SRD5A2 | c.*23A>G (n.*23A>G) | gnomAD v4 |
2 | g.31526173T>G | CA425566556 | SRD5A2 | c.*23A>C (n.*23A>C) | gnomAD v4 |
2 | g.31526174G>A | CA425566557 | SRD5A2 | c.*22C>T (n.*22C>T) | gnomAD v4 |
2 | g.31526174G>C | CA425566558 | SRD5A2 | c.*22C>G (n.*22C>G) | |
2 | g.31526174G= | CA1242195926 | SRD5A2 | c.*22C= (n.*22C=) | |
2 | g.31526174G>T | CA425566559 | SRD5A2 | c.*22C>A (n.*22C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526175C>A | CA425566560 | SRD5A2 | c.*21G>T (n.*21G>T) | gnomAD v4 |
2 | g.31526175C>G | CA425566561 | SRD5A2 | c.*21G>C (n.*21G>C) | |
2 | g.31526175C>T | CA425566562 | SRD5A2 | c.*21G>A (n.*21G>A) | gnomAD v4 |
2 | g.31526176T>A | CA425566564 | SRD5A2 | c.*20A>T (n.*20A>T) | |
2 | g.31526176T>C | CA425566565 | SRD5A2 | c.*20A>G (n.*20A>G) | |
2 | g.31526176T>G | CA425566563 | SRD5A2 | c.*20A>C (n.*20A>C) | |
2 | g.31526177C>A | CA425566566 | SRD5A2 | c.*19G>T (n.*19G>T) | gnomAD v4 |
2 | g.31526177C= | CA1242195927 | SRD5A2 | c.*19G= (n.*19G=) | |
2 | g.31526177C>G | CA425566567 | SRD5A2 | c.*19G>C (n.*19G>C) | |
2 | g.31526177C>T | CA425566568 | SRD5A2 | c.*19G>A (n.*19G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526178C>A | CA425566569 | SRD5A2 | c.*18G>T (n.*18G>T) | gnomAD v4 |
2 | g.31526178C= | CA1242195928 | SRD5A2 | c.*18G= (n.*18G=) | |
2 | g.31526178C>G | CA45135972 | SRD5A2 | c.*18G>C (n.*18G>C) | dbSNP gnomAD v4 |
2 | g.31526178C>T | CA425566570 | SRD5A2 | c.*18G>A (n.*18G>A) | |
2 | g.31526179T>A | CA425566573 | SRD5A2 | c.*17A>T (n.*17A>T) | |
2 | g.31526179T>C | CA425566571 | SRD5A2 | c.*17A>G (n.*17A>G) | gnomAD v4 |
2 | g.31526179T>G | CA425566572 | SRD5A2 | c.*17A>C (n.*17A>C) | |
2 | g.31526183dup | CA2749374950 | SRD5A2 | c.*17dup (n.*17dup) | |
2 | g.31526183del | CA2658512518 | SRD5A2 | c.*17del (n.*17del) | gnomAD v4 |
2 | g.31526180T>A | CA425566574 | SRD5A2 | c.*16A>T (n.*16A>T) | |
2 | g.31526180T>C | CA425566575 | SRD5A2 | c.*16A>G (n.*16A>G) | |
2 | g.31526180T>G | CA425566576 | SRD5A2 | c.*16A>C (n.*16A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526180T= | CA1242195929 | SRD5A2 | c.*16A= (n.*16A=) | |
2 | g.31526181T>A | CA425566577 | SRD5A2 | c.*15A>T (n.*15A>T) | |
2 | g.31526181T>C | CA425566578 | SRD5A2 | c.*15A>G (n.*15A>G) | dbSNP gnomAD v4 |
2 | g.31526181T>G | CA425566579 | SRD5A2 | c.*15A>C (n.*15A>C) | |
2 | g.31526181T= | CA1242195930 | SRD5A2 | c.*15A= (n.*15A=) | |
2 | g.31526182T>A | CA425566580 | SRD5A2 | c.*14A>T (n.*14A>T) | |
2 | g.31526182T>C | CA45135973 | SRD5A2 | c.*14A>G (n.*14A>G) | dbSNP |
2 | g.31526182T>G | CA425566581 | SRD5A2 | c.*14A>C (n.*14A>C) | |
2 | g.31526182T= | CA1242195931 | SRD5A2 | c.*14A= (n.*14A=) | |
2 | g.31526183T>A | CA425566582 | SRD5A2 | c.*13A>T (n.*13A>T) | gnomAD v4 |
2 | g.31526183T>C | CA425566583 | SRD5A2 | c.*13A>G (n.*13A>G) | gnomAD v4 |
2 | g.31526183T>G | CA425566584 | SRD5A2 | c.*13A>C (n.*13A>C) | |
2 | g.31526184A>C | CA425566585 | SRD5A2 | c.*12T>G (n.*12T>G) | |
2 | g.31526184A>G | CA425566586 | SRD5A2 | c.*12T>C (n.*12T>C) | |
2 | g.31526184A>T | CA425566587 | SRD5A2 | c.*12T>A (n.*12T>A) | gnomAD v4 |
2 | g.31526185A>C | CA425566588 | SRD5A2 | c.*11T>G (n.*11T>G) | |
2 | g.31526185A>G | CA425566589 | SRD5A2 | c.*11T>C (n.*11T>C) | gnomAD v4 |
2 | g.31526185A>T | CA425566590 | SRD5A2 | c.*11T>A (n.*11T>A) | |
2 | g.31526185_31526186delinsAT | CA1242195932 | SRD5A2 | c.*10_*11delinsAT (n.*10_*11delinsAT) | |
2 | g.31526186T>A | CA425566591 | SRD5A2 | c.*10A>T (n.*10A>T) | |
2 | g.31526186T>C | CA425566592 | SRD5A2 | c.*10A>G (n.*10A>G) | gnomAD v4 |
2 | g.31526186T>G | CA425566593 | SRD5A2 | c.*10A>C (n.*10A>C) | |
2 | g.31526188del | CA531769395 | SRD5A2 | c.*10del (n.*10del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526187T>A | CA425566594 | SRD5A2 | c.*9A>T (n.*9A>T) | |
2 | g.31526187T>C | CA425566596 | SRD5A2 | c.*9A>G (n.*9A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526187T>G | CA425566595 | SRD5A2 | c.*9A>C (n.*9A>C) | |
2 | g.31526187T= | CA1242195933 | SRD5A2 | c.*9A= (n.*9A=) | |
2 | g.31526188T>A | CA425566597 | SRD5A2 | c.*8A>T (n.*8A>T) | |
2 | g.31526188T>C | CA425566598 | SRD5A2 | c.*8A>G (n.*8A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526188T>G | CA425566599 | SRD5A2 | c.*8A>C (n.*8A>C) | |
2 | g.31526188T= | CA1242195934 | SRD5A2 | c.*8A= (n.*8A=) | |
2 | g.31526189G>A | CA425566600 | SRD5A2 | c.*7C>T (n.*7C>T) | gnomAD v4 |
2 | g.31526189G>C | CA425566601 | SRD5A2 | c.*7C>G (n.*7C>G) | gnomAD v4 |
2 | g.31526189G>T | CA425566602 | SRD5A2 | c.*7C>A (n.*7C>A) | gnomAD v4 |
2 | g.31526190G>A | CA425566603 | SRD5A2 | c.*6C>T (n.*6C>T) | gnomAD v4 |
2 | g.31526190G>C | CA425566604 | SRD5A2 | c.*6C>G (n.*6C>G) | |
2 | g.31526190G>T | CA425566605 | SRD5A2 | c.*6C>A (n.*6C>A) | gnomAD v4 COSMIC |
2 | g.31526191T>A | CA425566606 | SRD5A2 | c.*5A>T (n.*5A>T) | |
2 | g.31526191T>C | CA425566607 | SRD5A2 | c.*5A>G (n.*5A>G) | |
2 | g.31526191T>G | CA425566608 | SRD5A2 | c.*5A>C (n.*5A>C) | |
2 | g.31526192del | CA2658512519 | SRD5A2 | c.*5del (n.*5del) | gnomAD v4 |
2 | g.31526192T>A | CA425566610 | SRD5A2 | c.*4A>T (n.*4A>T) | |
2 | g.31526192T>C | CA1599845 | SRD5A2 | c.*4A>G (n.*4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31526192T>G | CA425566609 | SRD5A2 | c.*4A>C (n.*4A>C) | |
2 | g.31526192T= | CA1242195935 | SRD5A2 | c.*4A= (n.*4A=) | |
2 | g.31526193C>A | CA425566611 | SRD5A2 | c.*3G>T (n.*3G>T) | gnomAD v4 |
2 | g.31526193C= | CA1242195936 | SRD5A2 | c.*3G= (n.*3G=) | |
2 | g.31526193C>G | CA425566612 | SRD5A2 | c.*3G>C (n.*3G>C) | dbSNP gnomAD v2 |
2 | g.31526193C>T | CA425566613 | SRD5A2 | c.*3G>A (n.*3G>A) | dbSNP gnomAD v4 |
2 | g.31526194C>A | CA425566614 | SRD5A2 | c.*2G>T (n.*2G>T) | gnomAD v4 |
2 | g.31526194C>G | CA425566615 | SRD5A2 | c.*2G>C (n.*2G>C) | gnomAD v4 |
2 | g.31526194C>T | CA425566616 | SRD5A2 | c.*2G>A (n.*2G>A) | ClinVar gnomAD v4 |
2 | g.31526195T>A | CA425566617 | SRD5A2 | c.*1A>T (n.*1A>T) | gnomAD v4 |
2 | g.31526195T>C | CA425566618 | SRD5A2 | c.*1A>G (n.*1A>G) | gnomAD v4 |
2 | g.31526195T>G | CA425566619 | SRD5A2 | c.*1A>C (n.*1A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526195T= | CA1242195937 | SRD5A2 | c.*1A= (n.*1A=) | |
2 | g.31526196T>A | CA346597678 | SRD5A2 | c.765A>T (p.Ter255Tyr) c.543A>T (p.Ter181Tyr) c.510A>T (p.Ter170Tyr) | |
2 | g.31526196T>C | CA425566620 | SRD5A2 | c.765A>G (p.Ter255=) c.543A>G (p.Ter181=) c.510A>G (p.Ter170=) | gnomAD v4 |
2 | g.31526196T>G | CA346597679 | SRD5A2 | c.765A>C (p.Ter255Tyr) c.543A>C (p.Ter181Tyr) c.510A>C (p.Ter170Tyr) | |
2 | g.31526197T>A | CA346597681 | SRD5A2 | c.764A>T (p.Ter255Leu) c.542A>T (p.Ter181Leu) c.509A>T (p.Ter170Leu) | gnomAD v4 |
2 | g.31526197T>C | CA425566621 | SRD5A2 | c.764A>G (p.Ter255=) c.542A>G (p.Ter181=) c.509A>G (p.Ter170=) | |
2 | g.31526197T>G | CA346597680 | SRD5A2 | c.764A>C (p.Ter255Ser) c.542A>C (p.Ter181Ser) c.509A>C (p.Ter170Ser) | dbSNP gnomAD v4 |
2 | g.31526197T= | CA1242195938 | SRD5A2 | c.764A= (p.Ter255=) c.542A= (p.Ter181=) c.509A= (p.Ter170=) | |
2 | g.31526198A= | CA1242195939 | SRD5A2 | c.763T= (p.Ter255=) c.541T= (p.Ter181=) c.508T= (p.Ter170=) | |
2 | g.31526198A>C | CA346597682 | SRD5A2 | c.763T>G (p.Ter255Glu) c.541T>G (p.Ter181Glu) c.508T>G (p.Ter170Glu) | |
2 | g.31526198A>G | CA346597683 | SRD5A2 | c.763T>C (p.Ter255Gln) c.541T>C (p.Ter181Gln) c.508T>C (p.Ter170Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526198A>T | CA346597684 | SRD5A2 | c.763T>A (p.Ter255Lys) c.541T>A (p.Ter181Lys) c.508T>A (p.Ter170Lys) | gnomAD v4 |
2 | g.31526201del | CA2658512520 | SRD5A2 | c.763del (p.Ter255LysextTer24) c.541del (p.Ter181LysextTer24) c.508del (p.Ter170LysextTer24) | gnomAD v4 |
2 | g.31526199A>C | CA346597685 | SRD5A2 | c.762T>G (p.Phe254Leu) c.540T>G (p.Phe180Leu) c.507T>G (p.Phe169Leu) | |
2 | g.31526199A>G | CA425566622 | SRD5A2 | c.762T>C (p.Phe254=) c.540T>C (p.Phe180=) c.507T>C (p.Phe169=) | gnomAD v4 |
2 | g.31526199A>T | CA346597686 | SRD5A2 | c.762T>A (p.Phe254Leu) c.540T>A (p.Phe180Leu) c.507T>A (p.Phe169Leu) | |
2 | g.31526200A>C | CA346597687 | SRD5A2 | c.761T>G (p.Phe254Cys) c.539T>G (p.Phe180Cys) c.506T>G (p.Phe169Cys) | |
2 | g.31526200A>G | CA346597688 | SRD5A2 | c.761T>C (p.Phe254Ser) c.539T>C (p.Phe180Ser) c.506T>C (p.Phe169Ser) | gnomAD v4 |
2 | g.31526200A>T | CA346597689 | SRD5A2 | c.761T>A (p.Phe254Tyr) c.539T>A (p.Phe180Tyr) c.506T>A (p.Phe169Tyr) | |
2 | g.31526201A>C | CA346597690 | SRD5A2 | c.760T>G (p.Phe254Val) c.538T>G (p.Phe180Val) c.505T>G (p.Phe169Val) | |
2 | g.31526201A>G | CA346597692 | SRD5A2 | c.760T>C (p.Phe254Leu) c.538T>C (p.Phe180Leu) c.505T>C (p.Phe169Leu) | gnomAD v4 |
2 | g.31526201A>T | CA346597691 | SRD5A2 | c.760T>A (p.Phe254Ile) c.538T>A (p.Phe180Ile) c.505T>A (p.Phe169Ile) | |
2 | g.31526202G>A | CA425566623 | SRD5A2 | c.759C>T (p.Ile253=) c.537C>T (p.Ile179=) c.504C>T (p.Ile168=) | |
2 | g.31526202G>C | CA346597693 | SRD5A2 | c.759C>G (p.Ile253Met) c.537C>G (p.Ile179Met) c.504C>G (p.Ile168Met) | gnomAD v4 |
2 | g.31526202G>T | CA425566624 | SRD5A2 | c.759C>A (p.Ile253=) c.537C>A (p.Ile179=) c.504C>A (p.Ile168=) | gnomAD v4 |
2 | g.31526203A>C | CA346597694 | SRD5A2 | c.758T>G (p.Ile253Ser) c.536T>G (p.Ile179Ser) c.503T>G (p.Ile168Ser) | gnomAD v4 |
2 | g.31526203A>G | CA346597695 | SRD5A2 | c.758T>C (p.Ile253Thr) c.536T>C (p.Ile179Thr) c.503T>C (p.Ile168Thr) | gnomAD v4 |
2 | g.31526203A>T | CA346597696 | SRD5A2 | c.758T>A (p.Ile253Asn) c.536T>A (p.Ile179Asn) c.503T>A (p.Ile168Asn) | gnomAD v4 |
2 | g.31526204T>A | CA346597697 | SRD5A2 | c.757A>T (p.Ile253Phe) c.535A>T (p.Ile179Phe) c.502A>T (p.Ile168Phe) | |
2 | g.31526204T>C | CA346597699 | SRD5A2 | c.757A>G (p.Ile253Val) c.535A>G (p.Ile179Val) c.502A>G (p.Ile168Val) | gnomAD v4 |
2 | g.31526204T>G | CA346597698 | SRD5A2 | c.757A>C (p.Ile253Leu) c.535A>C (p.Ile179Leu) c.502A>C (p.Ile168Leu) | COSMIC |
2 | g.31526205G>A | CA425566625 | SRD5A2 | c.756C>T (p.Phe252=) c.534C>T (p.Phe178=) c.501C>T (p.Phe167=) | |
2 | g.31526205G>C | CA346597700 | SRD5A2 | c.756C>G (p.Phe252Leu) c.534C>G (p.Phe178Leu) c.501C>G (p.Phe167Leu) | |
2 | g.31526205G>T | CA346597701 | SRD5A2 | c.756C>A (p.Phe252Leu) c.534C>A (p.Phe178Leu) c.501C>A (p.Phe167Leu) | gnomAD v4 |
2 | g.31526206A>C | CA346597702 | SRD5A2 | c.755T>G (p.Phe252Cys) c.533T>G (p.Phe178Cys) c.500T>G (p.Phe167Cys) | |
2 | g.31526206A>G | CA346597703 | SRD5A2 | c.755T>C (p.Phe252Ser) c.533T>C (p.Phe178Ser) c.500T>C (p.Phe167Ser) | gnomAD v4 |
2 | g.31526206A>T | CA346597704 | SRD5A2 | c.755T>A (p.Phe252Tyr) c.533T>A (p.Phe178Tyr) c.500T>A (p.Phe167Tyr) | |
2 | g.31526207dup | CA2586968870 | SRD5A2 | c.755dup (p.Ile253HisfsTer8) c.533dup (p.Ile179HisfsTer8) c.500dup (p.Ile168HisfsTer8) | |
2 | g.31526207A>C | CA346597705 | SRD5A2 | c.754T>G (p.Phe252Val) c.532T>G (p.Phe178Val) c.499T>G (p.Phe167Val) | |
2 | g.31526207A>G | CA346597706 | SRD5A2 | c.754T>C (p.Phe252Leu) c.532T>C (p.Phe178Leu) c.499T>C (p.Phe167Leu) | gnomAD v4 |
2 | g.31526207A>T | CA346597707 | SRD5A2 | c.754T>A (p.Phe252Ile) c.532T>A (p.Phe178Ile) c.499T>A (p.Phe167Ile) | gnomAD v4 |
2 | g.31526207_31526208delinsAT | CA1242195940 | SRD5A2 | c.753_754delinsAT (p.Pro251=) c.531_532delinsAT (p.Pro177=) c.498_499delinsAT (p.Pro166=) | |
2 | g.31526208del | CA340076 | SRD5A2 | c.753del (p.Phe252SerfsTer27) c.531del (p.Phe178SerfsTer27) c.498del (p.Phe167SerfsTer27) | ClinVar dbSNP |
2 | g.31526208T>A | CA425566628 | SRD5A2 | c.753A>T (p.Pro251=) c.531A>T (p.Pro177=) c.498A>T (p.Pro166=) | gnomAD v4 |
2 | g.31526208T>C | CA425566627 | SRD5A2 | c.753A>G (p.Pro251=) c.531A>G (p.Pro177=) c.498A>G (p.Pro166=) | gnomAD v4 |
2 | g.31526208T>G | CA425566626 | SRD5A2 | c.753A>C (p.Pro251=) c.531A>C (p.Pro177=) c.498A>C (p.Pro166=) | |
2 | g.31526209G>A | CA45135974 | SRD5A2 | c.752C>T (p.Pro251Leu) c.530C>T (p.Pro177Leu) c.497C>T (p.Pro166Leu) | dbSNP gnomAD v4 |
2 | g.31526209G>C | CA346597708 | SRD5A2 | c.752C>G (p.Pro251Arg) c.530C>G (p.Pro177Arg) c.497C>G (p.Pro166Arg) | |
2 | g.31526209G= | CA1242195941 | SRD5A2 | c.752C= (p.Pro251=) c.530C= (p.Pro177=) c.497C= (p.Pro166=) | |
2 | g.31526209G>T | CA346597709 | SRD5A2 | c.752C>A (p.Pro251Gln) c.530C>A (p.Pro177Gln) c.497C>A (p.Pro166Gln) | |
2 | g.31526210G>A | CA346597710 | SRD5A2 | c.751C>T (p.Pro251Ser) c.529C>T (p.Pro177Ser) c.496C>T (p.Pro166Ser) | gnomAD v4 |
2 | g.31526210G>C | CA346597712 | SRD5A2 | c.751C>G (p.Pro251Ala) c.529C>G (p.Pro177Ala) c.496C>G (p.Pro166Ala) | |
2 | g.31526210G>T | CA346597711 | SRD5A2 | c.751C>A (p.Pro251Thr) c.529C>A (p.Pro177Thr) c.496C>A (p.Pro166Thr) | gnomAD v4 |
2 | g.31526211A>C | CA346597713 | SRD5A2 | c.750T>G (p.Ile250Met) c.528T>G (p.Ile176Met) c.495T>G (p.Ile165Met) | |
2 | g.31526211A>G | CA425566629 | SRD5A2 | c.750T>C (p.Ile250=) c.528T>C (p.Ile176=) c.495T>C (p.Ile165=) | gnomAD v4 |
2 | g.31526211A>T | CA425566630 | SRD5A2 | c.750T>A (p.Ile250=) c.528T>A (p.Ile176=) c.495T>A (p.Ile165=) | gnomAD v4 |
2 | g.31526212A= | CA1242195942 | SRD5A2 | c.749T= (p.Ile250=) c.527T= (p.Ile176=) c.494T= (p.Ile165=) | |
2 | g.31526212A>C | CA346597714 | SRD5A2 | c.749T>G (p.Ile250Ser) c.527T>G (p.Ile176Ser) c.494T>G (p.Ile165Ser) | |
2 | g.31526212A>G | CA346597715 | SRD5A2 | c.749T>C (p.Ile250Thr) c.527T>C (p.Ile176Thr) c.494T>C (p.Ile165Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526212A>T | CA346597716 | SRD5A2 | c.749T>A (p.Ile250Asn) c.527T>A (p.Ile176Asn) c.494T>A (p.Ile165Asn) | |
2 | g.31526213T>A | CA346597717 | SRD5A2 | c.748A>T (p.Ile250Phe) c.526A>T (p.Ile176Phe) c.493A>T (p.Ile165Phe) | |
2 | g.31526213T>C | CA346597718 | SRD5A2 | c.748A>G (p.Ile250Val) c.526A>G (p.Ile176Val) c.493A>G (p.Ile165Val) | |
2 | g.31526213T>G | CA346597719 | SRD5A2 | c.748A>C (p.Ile250Leu) c.526A>C (p.Ile176Leu) c.493A>C (p.Ile165Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526213T= | CA1242195943 | SRD5A2 | c.748A= (p.Ile250=) c.526A= (p.Ile176=) c.493A= (p.Ile165=) | |
2 | g.31526214A>C | CA425566631 | SRD5A2 | c.747T>G (p.Leu249=) c.525T>G (p.Leu175=) c.492T>G (p.Leu164=) | |
2 | g.31526214A>G | CA425566633 | SRD5A2 | c.747T>C (p.Leu249=) c.525T>C (p.Leu175=) c.492T>C (p.Leu164=) | |
2 | g.31526214A>T | CA425566632 | SRD5A2 | c.747T>A (p.Leu249=) c.525T>A (p.Leu175=) c.492T>A (p.Leu164=) | ClinVar gnomAD v4 |
2 | g.31526215A>C | CA346597720 | SRD5A2 | c.746T>G (p.Leu249Arg) c.524T>G (p.Leu175Arg) c.491T>G (p.Leu164Arg) | gnomAD v4 |
2 | g.31526215A>G | CA346597721 | SRD5A2 | c.746T>C (p.Leu249Pro) c.524T>C (p.Leu175Pro) c.491T>C (p.Leu164Pro) | gnomAD v4 |
2 | g.31526215A>T | CA346597722 | SRD5A2 | c.746T>A (p.Leu249His) c.524T>A (p.Leu175His) c.491T>A (p.Leu164His) | gnomAD v4 |
2 | g.31526216G>A | CA346597723 | SRD5A2 | c.745C>T (p.Leu249Phe) c.523C>T (p.Leu175Phe) c.490C>T (p.Leu164Phe) | gnomAD v4 |
2 | g.31526216G>C | CA346597724 | SRD5A2 | c.745C>G (p.Leu249Val) c.523C>G (p.Leu175Val) c.490C>G (p.Leu164Val) | |
2 | g.31526216G>T | CA346597725 | SRD5A2 | c.745C>A (p.Leu249Ile) c.523C>A (p.Leu175Ile) c.490C>A (p.Leu164Ile) | gnomAD v4 |
2 | g.31526217G>A | CA425566634 | SRD5A2 | c.744C>T (p.Ala248=) c.522C>T (p.Ala174=) c.489C>T (p.Ala163=) | gnomAD v4 |
2 | g.31526217G>C | CA425566635 | SRD5A2 | c.744C>G (p.Ala248=) c.522C>G (p.Ala174=) c.489C>G (p.Ala163=) | |
2 | g.31526217G>T | CA425566636 | SRD5A2 | c.744C>A (p.Ala248=) c.522C>A (p.Ala174=) c.489C>A (p.Ala163=) | gnomAD v4 |
2 | g.31526218G>A | CA346597728 | SRD5A2 | c.743C>T (p.Ala248Val) c.521C>T (p.Ala174Val) c.488C>T (p.Ala163Val) | |
2 | g.31526218G>C | CA346597726 | SRD5A2 | c.743C>G (p.Ala248Gly) c.521C>G (p.Ala174Gly) c.488C>G (p.Ala163Gly) | |
2 | g.31526218G>T | CA346597727 | SRD5A2 | c.743C>A (p.Ala248Asp) c.521C>A (p.Ala174Asp) c.488C>A (p.Ala163Asp) | ClinVar gnomAD v4 |
2 | g.31526219C>A | CA346597729 | SRD5A2 | c.742G>T (p.Ala248Ser) c.520G>T (p.Ala174Ser) c.487G>T (p.Ala163Ser) | gnomAD v4 |
2 | g.31526219C>G | CA346597730 | SRD5A2 | c.742G>C (p.Ala248Pro) c.520G>C (p.Ala174Pro) c.487G>C (p.Ala163Pro) | |
2 | g.31526219C>T | CA346597731 | SRD5A2 | c.742G>A (p.Ala248Thr) c.520G>A (p.Ala174Thr) c.487G>A (p.Ala163Thr) | gnomAD v4 |
2 | g.31526220T>A | CA346597732 | SRD5A2 | c.741A>T (p.Lys247Asn) c.519A>T (p.Lys173Asn) c.486A>T (p.Lys162Asn) | |
2 | g.31526220T>C | CA425566637 | SRD5A2 | c.741A>G (p.Lys247=) c.519A>G (p.Lys173=) c.486A>G (p.Lys162=) | |
2 | g.31526220T>G | CA346597733 | SRD5A2 | c.741A>C (p.Lys247Asn) c.519A>C (p.Lys173Asn) c.486A>C (p.Lys162Asn) | |
2 | g.31526221T>A | CA346597734 | SRD5A2 | c.740A>T (p.Lys247Ile) c.518A>T (p.Lys173Ile) c.485A>T (p.Lys162Ile) | |
2 | g.31526221T>C | CA346597735 | SRD5A2 | c.740A>G (p.Lys247Arg) c.518A>G (p.Lys173Arg) c.485A>G (p.Lys162Arg) | gnomAD v4 |
2 | g.31526221T>G | CA346597736 | SRD5A2 | c.740A>C (p.Lys247Thr) c.518A>C (p.Lys173Thr) c.485A>C (p.Lys162Thr) | |
2 | g.31526222T>A | CA346597737 | SRD5A2 | c.739A>T (p.Lys247Ter) c.517A>T (p.Lys173Ter) c.484A>T (p.Lys162Ter) | gnomAD v4 |
2 | g.31526222T>C | CA346597738 | SRD5A2 | c.739A>G (p.Lys247Glu) c.517A>G (p.Lys173Glu) c.484A>G (p.Lys162Glu) | gnomAD v4 |
2 | g.31526222T>G | CA346597739 | SRD5A2 | c.739A>C (p.Lys247Gln) c.517A>C (p.Lys173Gln) c.484A>C (p.Lys162Gln) | |
2 | g.31526223C>A | CA425566638 | SRD5A2 | c.738G>T (p.Arg246=) c.516G>T (p.Arg172=) c.483G>T (p.Arg161=) | |
2 | g.31526223C>G | CA425566639 | SRD5A2 | c.738G>C (p.Arg246=) c.516G>C (p.Arg172=) c.483G>C (p.Arg161=) | |
2 | g.31526223C>T | CA425566640 | SRD5A2 | c.738G>A (p.Arg246=) c.516G>A (p.Arg172=) c.483G>A (p.Arg161=) | gnomAD v4 |
2 | g.31526224del | CA2658512521 | SRD5A2 | c.738del (p.Ala248ProfsTer?) c.516del (p.Ala174ProfsTer?) c.483del (p.Ala163ProfsTer?) | gnomAD v4 |
2 | g.31526224C>A | CA346597741 | SRD5A2 | c.737G>T (p.Arg246Leu) c.515G>T (p.Arg172Leu) c.482G>T (p.Arg161Leu) | gnomAD v4 |
2 | g.31526224C= | CA1242195944 | SRD5A2 | c.737G= (p.Arg246=) c.515G= (p.Arg172=) c.482G= (p.Arg161=) | |
2 | g.31526224C>G | CA346597740 | SRD5A2 | c.737G>C (p.Arg246Pro) c.515G>C (p.Arg172Pro) c.482G>C (p.Arg161Pro) | gnomAD v4 |
2 | g.31526224C>T | CA1599846 | SRD5A2 | c.737G>A (p.Arg246Gln) c.515G>A (p.Arg172Gln) c.482G>A (p.Arg161Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31526224_31526225insT | CA2586968871 | SRD5A2 | c.736_737insA (p.Arg246GlnfsTer15) c.514_515insA (p.Arg172GlnfsTer15) c.481_482insA (p.Arg161GlnfsTer15) | |
2 | g.31526225G>A | CA340064 | SRD5A2 | c.736C>T (p.Arg246Trp) c.514C>T (p.Arg172Trp) c.481C>T (p.Arg161Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526225G>C | CA346597742 | SRD5A2 | c.736C>G (p.Arg246Gly) c.514C>G (p.Arg172Gly) c.481C>G (p.Arg161Gly) | |
2 | g.31526225G= | CA1242195945 | SRD5A2 | c.736C= (p.Arg246=) c.514C= (p.Arg172=) c.481C= (p.Arg161=) | |
2 | g.31526225G>T | CA425566641 | SRD5A2 | c.736C>A (p.Arg246=) c.514C>A (p.Arg172=) c.481C>A (p.Arg161=) | gnomAD v4 |
2 | g.31526226A>C | CA425566642 | SRD5A2 | c.735T>G (p.Ser245=) c.513T>G (p.Ser171=) c.480T>G (p.Ser160=) | |
2 | g.31526226A>G | CA425566643 | SRD5A2 | c.735T>C (p.Ser245=) c.513T>C (p.Ser171=) c.480T>C (p.Ser160=) | gnomAD v4 |
2 | g.31526226A>T | CA425566644 | SRD5A2 | c.735T>A (p.Ser245=) c.513T>A (p.Ser171=) c.480T>A (p.Ser160=) | gnomAD v4 |
2 | g.31526227G>A | CA346597743 | SRD5A2 | c.734C>T (p.Ser245Phe) c.512C>T (p.Ser171Phe) c.479C>T (p.Ser160Phe) | |
2 | g.31526227G>C | CA346597744 | SRD5A2 | c.734C>G (p.Ser245Cys) c.512C>G (p.Ser171Cys) c.479C>G (p.Ser160Cys) | |
2 | g.31526227G= | CA1242195946 | SRD5A2 | c.734C= (p.Ser245=) c.512C= (p.Ser171=) c.479C= (p.Ser160=) | |
2 | g.31526227G>T | CA1599847 | SRD5A2 | c.734C>A (p.Ser245Tyr) c.512C>A (p.Ser171Tyr) c.479C>A (p.Ser160Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31526228A>C | CA346597745 | SRD5A2 | c.733T>G (p.Ser245Ala) c.511T>G (p.Ser171Ala) c.478T>G (p.Ser160Ala) | |
2 | g.31526228A>G | CA346597746 | SRD5A2 | c.733T>C (p.Ser245Pro) c.511T>C (p.Ser171Pro) c.478T>C (p.Ser160Pro) | |
2 | g.31526228A>T | CA346597747 | SRD5A2 | c.733T>A (p.Ser245Thr) c.511T>A (p.Ser171Thr) c.478T>A (p.Ser160Thr) | |
2 | g.31526229T>A | CA346597748 | SRD5A2 | c.732A>T (p.Lys244Asn) c.510A>T (p.Lys170Asn) c.477A>T (p.Lys159Asn) | |
2 | g.31526229T>C | CA425566645 | SRD5A2 | c.732A>G (p.Lys244=) c.510A>G (p.Lys170=) c.477A>G (p.Lys159=) | |
2 | g.31526229T>G | CA346597749 | SRD5A2 | c.732A>C (p.Lys244Asn) c.510A>C (p.Lys170Asn) c.477A>C (p.Lys159Asn) | |
2 | g.31526230T>A | CA346597750 | SRD5A2 | c.731A>T (p.Lys244Ile) c.509A>T (p.Lys170Ile) c.476A>T (p.Lys159Ile) | |
2 | g.31526230T>C | CA346597751 | SRD5A2 | c.731A>G (p.Lys244Arg) c.509A>G (p.Lys170Arg) c.476A>G (p.Lys159Arg) | |
2 | g.31526230T>G | CA346597752 | SRD5A2 | c.731A>C (p.Lys244Thr) c.509A>C (p.Lys170Thr) c.476A>C (p.Lys159Thr) | |
2 | g.31526231T>A | CA346597753 | SRD5A2 | c.730A>T (p.Lys244Ter) c.508A>T (p.Lys170Ter) c.475A>T (p.Lys159Ter) | dbSNP |
2 | g.31526231T>C | CA346597754 | SRD5A2 | c.730A>G (p.Lys244Glu) c.508A>G (p.Lys170Glu) c.475A>G (p.Lys159Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31526231T>G | CA346597755 | SRD5A2 | c.730A>C (p.Lys244Gln) c.508A>C (p.Lys170Gln) c.475A>C (p.Lys159Gln) | |
2 | g.31526231T= | CA1242195947 | SRD5A2 | c.730A= (p.Lys244=) c.508A= (p.Lys170=) c.475A= (p.Lys159=) | |
2 | g.31526231_31526232delinsTG | CA1242195948 | SRD5A2 | c.729_730delinsCA (p.Pro243=) c.507_508delinsCA (p.Pro169=) c.474_475delinsCA (p.Pro158=) | |
2 | g.31526232G>A | CA425566646 | SRD5A2 | c.729C>T (p.Pro243=) c.507C>T (p.Pro169=) c.474C>T (p.Pro158=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526232G>C | CA425566647 | SRD5A2 | c.729C>G (p.Pro243=) c.507C>G (p.Pro169=) c.474C>G (p.Pro158=) | |
2 | g.31526232G= | CA1242195949 | SRD5A2 | c.729C= (p.Pro243=) c.507C= (p.Pro169=) c.474C= (p.Pro158=) | |
2 | g.31526232G>T | CA425566648 | SRD5A2 | c.729C>A (p.Pro243=) c.507C>A (p.Pro169=) c.474C>A (p.Pro158=) | gnomAD v4 |
2 | g.31526235del | CA658823245 | SRD5A2 | c.729del (p.Lys244AsnfsTer?) c.507del (p.Lys170AsnfsTer?) c.474del (p.Lys159AsnfsTer?) | ClinVar dbSNP |
2 | g.31526233G>A | CA346597757 | SRD5A2 | c.728C>T (p.Pro243Leu) c.506C>T (p.Pro169Leu) c.473C>T (p.Pro158Leu) | gnomAD v4 |
2 | g.31526233G>C | CA45135975 | SRD5A2 | c.728C>G (p.Pro243Arg) c.506C>G (p.Pro169Arg) c.473C>G (p.Pro158Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31526233G= | CA1242195950 | SRD5A2 | c.728C= (p.Pro243=) c.506C= (p.Pro169=) c.473C= (p.Pro158=) | |
2 | g.31526233G>T | CA346597756 | SRD5A2 | c.728C>A (p.Pro243His) c.506C>A (p.Pro169His) c.473C>A (p.Pro158His) | gnomAD v4 |
2 | g.31526234G>A | CA346597758 | SRD5A2 | c.727C>T (p.Pro243Ser) c.505C>T (p.Pro169Ser) c.472C>T (p.Pro158Ser) | gnomAD v4 |
2 | g.31526234G>C | CA346597759 | SRD5A2 | c.727C>G (p.Pro243Ala) c.505C>G (p.Pro169Ala) c.472C>G (p.Pro158Ala) | |
2 | g.31526234G= | CA1242195951 | SRD5A2 | c.727C= (p.Pro243=) c.505C= (p.Pro169=) c.472C= (p.Pro158=) | |
2 | g.31526234G>T | CA346597760 | SRD5A2 | c.727C>A (p.Pro243Thr) c.505C>A (p.Pro169Thr) c.472C>A (p.Pro158Thr) | gnomAD v4 |
2 | g.31526239_31526259dup | CA531769396 | SRD5A2 | c.707_727dup (p.Tyr242_Pro243insLeuLysMetPheGluAspTyr) c.485_505dup (p.Tyr168_Pro169insLeuLysMetPheGluAspTyr) c.452_472dup (p.Tyr157_Pro158insLeuLysMetPheGluAspTyr) | dbSNP gnomAD v2 gnomAD v4 |