X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del
| ClinVar |
X | g.25004604C>A | CA2568601675 | ARX | c.*66G>T (n.*66G>T)
| |
X | g.25004604C>G | CA2693352384 | ARX | c.*66G>C (n.*66G>C)
| gnomAD v4 |
X | g.25004604C>T | CA2693352385 | ARX | c.*66G>A (n.*66G>A)
| gnomAD v4 |
X | g.25004605T>C | CA2693352386 | ARX | c.*65A>G (n.*65A>G)
| gnomAD v4 |
X | g.25004606T>A | CA2420205843 | ARX | c.*64A>T (n.*64A>T)
| dbSNP |
X | g.25004606T>G | CA2693352387 | ARX | c.*64A>C (n.*64A>C)
| gnomAD v4 |
X | g.25004606T= | CA2420205842 | ARX | c.*64A= (n.*64A=)
| |
X | g.25004607G>C | CA641364643 | ARX | c.*63C>G (n.*63C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004607G= | CA2420205844 | ARX | c.*63C= (n.*63C=)
| |
X | g.25004607G>T | CA2693352388 | ARX | c.*63C>A (n.*63C>A)
| gnomAD v4 |
X | g.25004608A= | CA2420205845 | ARX | c.*62T= (n.*62T=)
| |
X | g.25004608A>C | CA2693352389 | ARX | c.*62T>G (n.*62T>G)
| gnomAD v4 |
X | g.25004608A>G | CA2693352390 | ARX | c.*62T>C (n.*62T>C)
| gnomAD v4 |
X | g.25004608A>T | CA641364644 | ARX | c.*62T>A (n.*62T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004609G>A | CA2579637197 | ARX | c.*61C>T (n.*61C>T)
| |
X | g.25004609G>T | CA2579637198 | ARX | c.*61C>A (n.*61C>A)
| gnomAD v4 |
X | g.25004611G>A | CA2693352391 | ARX | c.*59C>T (n.*59C>T)
| gnomAD v4 |
X | g.25004611G>T | CA2693352392 | ARX | c.*59C>A (n.*59C>A)
| gnomAD v4 |
X | g.25004612G>C | CA2579637199 | ARX | c.*58C>G (n.*58C>G)
| |
X | g.25004612G= | CA2420205846 | ARX | c.*58C= (n.*58C=)
| |
X | g.25004612G>T | CA327732401 | ARX | c.*58C>A (n.*58C>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25004614G>A | CA2693352393 | ARX | c.*56C>T (n.*56C>T)
| gnomAD v4 |
X | g.25004614G>T | CA2693352394 | ARX | c.*56C>A (n.*56C>A)
| gnomAD v4 |
X | g.25004615C>A | CA2693352395 | ARX | c.*55G>T (n.*55G>T)
| gnomAD v4 |
X | g.25004615C>T | CA2579637202 | ARX | c.*55G>A (n.*55G>A)
| gnomAD v4 |
X | g.25004616T>C | CA2820109447 | ARX | c.*54A>G (n.*54A>G)
| |
X | g.25004616T>G | CA2693352396 | ARX | c.*54A>C (n.*54A>C)
| gnomAD v4 |
X | g.25004617G>T | CA2693352397 | ARX | c.*53C>A (n.*53C>A)
| gnomAD v4 |
X | g.25004619G>A | CA2693352399 | ARX | c.*51C>T (n.*51C>T)
| gnomAD v4 |
X | g.25004619G>T | CA2693352398 | ARX | c.*51C>A (n.*51C>A)
| gnomAD v4 |
X | g.25004621G= | CA2420205847 | ARX | c.*49C= (n.*49C=)
| |
X | g.25004621G>T | CA641364645 | ARX | c.*49C>A (n.*49C>A)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004623G>A | CA2693352400 | ARX | c.*47C>T (n.*47C>T)
| gnomAD v4 |
X | g.25004623G>T | CA2693352401 | ARX | c.*47C>A (n.*47C>A)
| gnomAD v4 |
X | g.25004624G>A | CA2420205849 | ARX | c.*46C>T (n.*46C>T)
| dbSNP |
X | g.25004624G= | CA2420205848 | ARX | c.*46C= (n.*46C=)
| |
X | g.25004624G>T | CA2693352402 | ARX | c.*46C>A (n.*46C>A)
| gnomAD v4 |
X | g.25004625T>G | CA2693352403 | ARX | c.*45A>C (n.*45A>C)
| gnomAD v4 |
X | g.25004626G>T | CA2693352404 | ARX | c.*44C>A (n.*44C>A)
| gnomAD v4 |
X | g.25004627A= | CA2420205850 | ARX | c.*43T= (n.*43T=)
| |
X | g.25004627A>G | CA641364646 | ARX | c.*43T>C (n.*43T>C)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004628C>A | CA327732402 | ARX | c.*42G>T (n.*42G>T)
| dbSNP |
X | g.25004628C= | CA2420205851 | ARX | c.*42G= (n.*42G=)
| |
X | g.25004628C>G | CA2693352405 | ARX | c.*42G>C (n.*42G>C)
| gnomAD v4 |
X | g.25004629C= | CA2420205852 | ARX | c.*41G= (n.*41G=)
| |
X | g.25004629C>T | CA1131754375 | ARX | c.*41G>A (n.*41G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25004630_25004640del | CA2693352406 | ARX | c.*31_*41del (n.*31_*41del)
| gnomAD v4 |
X | g.25004630T>G | CA2693352407 | ARX | c.*40A>C (n.*40A>C)
| gnomAD v4 |
X | g.25004632T>G | CA641364647 | ARX | c.*38A>C (n.*38A>C)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004632T= | CA2420205854 | ARX | c.*38A= (n.*38A=)
| |
X | g.25004632_25004643delinsTCGGGGCGCGCG | CA2420205853 | ARX | c.*27_*38delinsCGCGCGCCCCGA (n.*27_*38delinsCGCGCGCCCCGA)
| |
X | g.25004633C= | CA2420205856 | ARX | c.*37G= (n.*37G=)
| |
X | g.25004633C>T | CA2420205855 | ARX | c.*37G>A (n.*37G>A)
| dbSNP |
X | g.25004633dup | CA2420205857 | ARX | c.*37dup (n.*37dup)
| dbSNP |
X | g.25004642_25004652dup | CA2693352408 | ARX | c.*27_*37dup (n.*27_*37dup)
| gnomAD v4 |
X | g.25004642_25004652del | CA10373759 | ARX | c.*27_*37del (n.*27_*37del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004634G>A | CA515747718 | ARX | c.*36C>T (n.*36C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004634G>C | CA874141449 | ARX | c.*36C>G (n.*36C>G)
| dbSNP |
X | g.25004634G= | CA2420205858 | ARX | c.*36C= (n.*36C=)
| |
X | g.25004634G>T | CA2510373070 | ARX | c.*36C>A (n.*36C>A)
| gnomAD v4 |
X | g.25004637dup | CA2838386697 | ARX | c.*36dup (n.*36dup)
| |
X | g.25004635G>T | CA2579637206 | ARX | c.*35C>A (n.*35C>A)
| |
X | g.25004636G>T | CA2693352409 | ARX | c.*34C>A (n.*34C>A)
| gnomAD v4 |
X | g.25004636_25004638delinsGGC | CA2420205859 | ARX | c.*32_*34delinsGCC (n.*32_*34delinsGCC)
| |
X | g.25004637G>T | CA2564836660 | ARX | c.*33C>A (n.*33C>A)
| gnomAD v4 |
X | g.25004644_25004645del | CA641364648 | ARX | c.*32_*33del (n.*32_*33del)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004638C= | CA2420205860 | ARX | c.*32G= (n.*32G=)
| |
X | g.25004638C>T | CA2420205861 | ARX | c.*32G>A (n.*32G>A)
| dbSNP gnomAD v4 |
X | g.25004639G>A | CA2420205863 | ARX | c.*31C>T (n.*31C>T)
| dbSNP gnomAD v4 |
X | g.25004639G= | CA2420205862 | ARX | c.*31C= (n.*31C=)
| |
X | g.25004639G>T | CA2693352410 | ARX | c.*31C>A (n.*31C>A)
| gnomAD v4 |
X | g.25004640C>A | CA2842706009 | ARX | c.*30G>T (n.*30G>T)
| |
X | g.25004640C= | CA2420205864 | ARX | c.*30G= (n.*30G=)
| |
X | g.25004640C>T | CA2420205865 | ARX | c.*30G>A (n.*30G>A)
| dbSNP gnomAD v4 |
X | g.25004641G>C | CA641364649 | ARX | c.*29C>G (n.*29C>G)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004641G= | CA2420205866 | ARX | c.*29C= (n.*29C=)
| |
X | g.25004641G>T | CA2693352412 | ARX | c.*29C>A (n.*29C>A)
| gnomAD v4 |
X | g.25004643_25004667del | CA2693352411 | ARX | c.*5_*29del (n.*5_*29del)
| gnomAD v4 |
X | g.25004642C>T | CA2693352413 | ARX | c.*28G>A (n.*28G>A)
| gnomAD v4 |
X | g.25004642_25004653delinsCGCGGGGCGCGG | CA2420205867 | ARX | c.*17_*28delinsCCGCGCCCCGCG (n.*17_*28delinsCCGCGCCCCGCG)
| |
X | g.25004643G>C | CA2563882608 | ARX | c.*27C>G (n.*27C>G)
| |
X | g.25004644_25004654del | CA2420205868 | ARX | c.*17_*27del (n.*17_*27del)
| dbSNP gnomAD v4 |
X | g.25004644C>A | CA641364650 | ARX | c.*26G>T (n.*26G>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004644C= | CA2420205869 | ARX | c.*26G= (n.*26G=)
| |
X | g.25004644C>T | CA1131754382 | ARX | c.*26G>A (n.*26G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25004645G>A | CA10373760 | ARX | c.*25C>T (n.*25C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004645G>C | CA2546114895 | ARX | c.*25C>G (n.*25C>G)
| |
X | g.25004645G= | CA2420205870 | ARX | c.*25C= (n.*25C=)
| |
X | g.25004645G>T | CA327732403 | ARX | c.*25C>A (n.*25C>A)
| dbSNP gnomAD v4 |
X | g.25004648dup | CA874141462 | ARX | c.*25dup (n.*25dup)
| dbSNP |
X | g.25004648del | CA2693352414 | ARX | c.*25del (n.*25del)
| gnomAD v4 |
X | g.25004646G>T | CA2693352415 | ARX | c.*24C>A (n.*24C>A)
| gnomAD v4 |
X | g.25004647G>A | CA2420205872 | ARX | c.*23C>T (n.*23C>T)
| dbSNP gnomAD v4 |
X | g.25004647G= | CA2420205871 | ARX | c.*23C= (n.*23C=)
| |
X | g.25004648G>A | CA641364651 | ARX | c.*22C>T (n.*22C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004648G= | CA2420205873 | ARX | c.*22C= (n.*22C=)
| |
X | g.25004649C>A | CA2693352416 | ARX | c.*21G>T (n.*21G>T)
| gnomAD v4 |
X | g.25004649C= | CA2420205874 | ARX | c.*21G= (n.*21G=)
| |
X | g.25004649C>T | CA874141467 | ARX | c.*21G>A (n.*21G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25004650G>A | CA16608400 | ARX | c.*20C>T (n.*20C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004650G>C | CA2693352417 | ARX | c.*20C>G (n.*20C>G)
| gnomAD v4 |
X | g.25004650G= | CA2420205875 | ARX | c.*20C= (n.*20C=)
| |
X | g.25004650G>T | CA10373761 | ARX | c.*20C>A (n.*20C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004651C>A | CA874141484 | ARX | c.*19G>T (n.*19G>T)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25004651C= | CA2420205876 | ARX | c.*19G= (n.*19G=)
| |
X | g.25004651C>T | CA10373762 | ARX | c.*19G>A (n.*19G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004652G>A | CA2420205878 | ARX | c.*18C>T (n.*18C>T)
| dbSNP gnomAD v4 |
X | g.25004652G>C | CA327732404 | ARX | c.*18C>G (n.*18C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004652G= | CA2420205877 | ARX | c.*18C= (n.*18C=)
| |
X | g.25004652G>T | CA2693352418 | ARX | c.*18C>A (n.*18C>A)
| gnomAD v4 |
X | g.25004653G>A | CA2531713776 | ARX | c.*17C>T (n.*17C>T)
| |
X | g.25004653G>T | CA2693352419 | ARX | c.*17C>A (n.*17C>A)
| gnomAD v4 |
X | g.25004654G>A | CA641364652 | ARX | c.*16C>T (n.*16C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004654G= | CA2420205879 | ARX | c.*16C= (n.*16C=)
| |
X | g.25004654G>T | CA641364653 | ARX | c.*16C>A (n.*16C>A)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004655del | CA2557079576 | ARX | c.*15del (n.*15del)
| |
X | g.25004655T>A | CA641364654 | ARX | c.*15A>T (n.*15A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004655T>G | CA2579637213 | ARX | c.*15A>C (n.*15A>C)
| gnomAD v4 |
X | g.25004655T= | CA2420205880 | ARX | c.*15A= (n.*15A=)
| |
X | g.25004658G>A | CA2820109458 | ARX | c.*12C>T (n.*12C>T)
| |
X | g.25004658G>T | CA2693352420 | ARX | c.*12C>A (n.*12C>A)
| gnomAD v4 |
X | g.25004659_25004660insGCGCGG | CA2579637215 | ARX | c.*12_*13insGCGCCC (n.*12_*13insGCGCCC)
| gnomAD v4 |
X | g.25004661G>T | CA2540139047 | ARX | c.*9C>A (n.*9C>A)
| gnomAD v4 |
X | g.25004662G>C | CA2579637216 | ARX | c.*8C>G (n.*8C>G)
| |
X | g.25004662_25004663insCGCGCGCGGGGC | CA2579637217 | ARX | c.*7_*8insGCCCCGCGCGCG (n.*7_*8insGCCCCGCGCGCG)
| gnomAD v4 |
X | g.25004663G>A | CA2693352421 | ARX | c.*7C>T (n.*7C>T)
| gnomAD v4 |
X | g.25004663G>T | CA2693352422 | ARX | c.*7C>A (n.*7C>A)
| gnomAD v4 |
X | g.25004664C>A | CA2579637218 | ARX | c.*6G>T (n.*6G>T)
| |
X | g.25004664C= | CA2420205881 | ARX | c.*6G= (n.*6G=)
| |
X | g.25004664C>T | CA641364655 | ARX | c.*6G>A (n.*6G>A)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25004665A= | CA2420205882 | ARX | c.*5T= (n.*5T=)
| |
X | g.25004665A>C | CA641364656 | ARX | c.*5T>G (n.*5T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004666G>C | CA874141499 | ARX | c.*4C>G (n.*4C>G)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25004666G= | CA2420205883 | ARX | c.*4C= (n.*4C=)
| |
X | g.25004667C>A | CA641364657 | ARX | c.*3G>T (n.*3G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004667C= | CA2420205884 | ARX | c.*3G= (n.*3G=)
| |
X | g.25004668C= | CA2420205885 | ARX | c.*2G= (n.*2G=)
| |
X | g.25004668C>G | CA16609169 | ARX | c.*2G>C (n.*2G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25004669T>C | CA2693352423 | ARX | c.*1A>G (n.*1A>G)
| gnomAD v4 |
X | g.25004670T>A | CA412610481 | ARX | c.1689A>T (p.Ter563Tyr)
| |
X | g.25004670T>C | CA515747723 | ARX | c.1689A>G (p.Ter563=)
| |
X | g.25004670T>G | CA412610480 | ARX | c.1689A>C (p.Ter563Tyr)
| |
X | g.25004671T>A | CA412610482 | ARX | c.1688A>T (p.Ter563Leu)
| |
X | g.25004671T>C | CA515747726 | ARX | c.1688A>G (p.Ter563=)
| |
X | g.25004671T>G | CA412610483 | ARX | c.1688A>C (p.Ter563Ser)
| |
X | g.25004672A>C | CA412610484 | ARX | c.1687T>G (p.Ter563Glu)
| |
X | g.25004672A>G | CA412610485 | ARX | c.1687T>C (p.Ter563Gln)
| |
X | g.25004672A>T | CA412610486 | ARX | c.1687T>A (p.Ter563Lys)
| |
X | g.25004673G>A | CA515747731 | ARX | c.1686C>T (p.Cys562=)
| |
X | g.25004673G>C | CA412610487 | ARX | c.1686C>G (p.Cys562Trp)
| |
X | g.25004673G>T | CA412610488 | ARX | c.1686C>A (p.Cys562Ter)
| |
X | g.25004674C>A | CA412610489 | ARX | c.1685G>T (p.Cys562Phe)
| |
X | g.25004674C>G | CA412610490 | ARX | c.1685G>C (p.Cys562Ser)
| |
X | g.25004674C>T | CA412610491 | ARX | c.1685G>A (p.Cys562Tyr)
| |
X | g.25004674dup | CA2842706010 | ARX | c.1685dup (p.Cys562TrpfsTer?)
| |
X | g.25004675A= | CA2420205886 | ARX | c.1684T= (p.Cys562=)
| |
X | g.25004675A>C | CA412610492 | ARX | c.1684T>G (p.Cys562Gly)
| |
X | g.25004675A>G | CA412610493 | ARX | c.1684T>C (p.Cys562Arg)
| ClinVar dbSNP |
X | g.25004675A>T | CA412610494 | ARX | c.1684T>A (p.Cys562Ser)
| |
X | g.25004676C>A | CA515747736 | ARX | c.1683G>T (p.Val561=)
| |
X | g.25004676C>G | CA515747737 | ARX | c.1683G>C (p.Val561=)
| |
X | g.25004676C>T | CA515747738 | ARX | c.1683G>A (p.Val561=)
| |
X | g.25004677A>C | CA412610496 | ARX | c.1682T>G (p.Val561Gly)
| |
X | g.25004677A>G | CA412610497 | ARX | c.1682T>C (p.Val561Ala)
| |
X | g.25004677A>T | CA412610495 | ARX | c.1682T>A (p.Val561Glu)
| COSMIC |
X | g.25004677dup | CA913187412 | ARX | c.1682dup (p.Cys562ValfsTer?)
| |
X | g.25004678C>A | CA412610498 | ARX | c.1681G>T (p.Val561Leu)
| gnomAD v4 |
X | g.25004678C>G | CA412610499 | ARX | c.1681G>C (p.Val561Leu)
| |
X | g.25004678C>T | CA412610500 | ARX | c.1681G>A (p.Val561Met)
| gnomAD v4 |
X | g.25004679C>A | CA412610501 | ARX | c.1680G>T (p.Glu560Asp)
| COSMIC |
X | g.25004679C= | CA2420205887 | ARX | c.1680G= (p.Glu560=)
| |
X | g.25004679C>G | CA412610502 | ARX | c.1680G>C (p.Glu560Asp)
| |
X | g.25004679C>T | CA515747745 | ARX | c.1680G>A (p.Glu560=)
| dbSNP gnomAD v4 |
X | g.25004680T>A | CA412610505 | ARX | c.1679A>T (p.Glu560Val)
| |
X | g.25004680T>C | CA412610503 | ARX | c.1679A>G (p.Glu560Gly)
| |
X | g.25004680T>G | CA412610504 | ARX | c.1679A>C (p.Glu560Ala)
| |
X | g.25004681C>A | CA412610506 | ARX | c.1678G>T (p.Glu560Ter)
| |
X | g.25004681C>G | CA412610507 | ARX | c.1678G>C (p.Glu560Gln)
| |
X | g.25004681C>T | CA412610508 | ARX | c.1678G>A (p.Glu560Lys)
| |
X | g.25004682C>A | CA412610509 | ARX | c.1677G>T (p.Lys559Asn)
| gnomAD v4 |
X | g.25004682C>G | CA412610510 | ARX | c.1677G>C (p.Lys559Asn)
| |
X | g.25004682C>T | CA515747751 | ARX | c.1677G>A (p.Lys559=)
| ClinVar dbSNP gnomAD v4 |
X | g.25004683T>A | CA412610513 | ARX | c.1676A>T (p.Lys559Met)
| ClinVar |
X | g.25004683T>C | CA412610511 | ARX | c.1676A>G (p.Lys559Arg)
| |
X | g.25004683T>G | CA412610512 | ARX | c.1676A>C (p.Lys559Thr)
| |
X | g.25004684T>A | CA412610514 | ARX | c.1675A>T (p.Lys559Ter)
| |
X | g.25004684T>C | CA412610516 | ARX | c.1675A>G (p.Lys559Glu)
| |
X | g.25004684T>G | CA412610515 | ARX | c.1675A>C (p.Lys559Gln)
| |
X | g.25004685G>A | CA515747757 | ARX | c.1674C>T (p.Gly558=)
| |
X | g.25004685G>C | CA515747758 | ARX | c.1674C>G (p.Gly558=)
| |
X | g.25004685G= | CA2420205888 | ARX | c.1674C= (p.Gly558=)
| |
X | g.25004685G>T | CA327732405 | ARX | c.1674C>A (p.Gly558=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25004686C>A | CA412610517 | ARX | c.1673G>T (p.Gly558Val)
| |
X | g.25004686C>G | CA412610519 | ARX | c.1673G>C (p.Gly558Ala)
| |
X | g.25004686C>T | CA412610518 | ARX | c.1673G>A (p.Gly558Asp)
| COSMIC |
X | g.25004687C>A | CA412610520 | ARX | c.1672G>T (p.Gly558Cys)
| |
X | g.25004687C>G | CA412610522 | ARX | c.1672G>C (p.Gly558Arg)
| |
X | g.25004687C>T | CA412610521 | ARX | c.1672G>A (p.Gly558Ser)
| gnomAD v4 |
X | g.25004688C>A | CA515747764 | ARX | c.1671G>T (p.Thr557=)
| gnomAD v4 |
X | g.25004688C= | CA2420205889 | ARX | c.1671G= (p.Thr557=)
| |
X | g.25004688C>G | CA515747766 | ARX | c.1671G>C (p.Thr557=)
| |
X | g.25004688C>T | CA149541 | ARX | c.1671G>A (p.Thr557=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004689G>A | CA412610523 | ARX | c.1670C>T (p.Thr557Met)
| dbSNP gnomAD v2 |
X | g.25004689G>C | CA412610524 | ARX | c.1670C>G (p.Thr557Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25004689G= | CA2420205890 | ARX | c.1670C= (p.Thr557=)
| |
X | g.25004689G>T | CA412610525 | ARX | c.1670C>A (p.Thr557Lys)
| gnomAD v4 |
X | g.25004690T>A | CA412610526 | ARX | c.1669A>T (p.Thr557Ser)
| |
X | g.25004690T>C | CA412610527 | ARX | c.1669A>G (p.Thr557Ala)
| |
X | g.25004690T>G | CA412610528 | ARX | c.1669A>C (p.Thr557Pro)
| |
X | g.25004691G>A | CA515747772 | ARX | c.1668C>T (p.Ser556=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25004691G>C | CA412610529 | ARX | c.1668C>G (p.Ser556Arg)
| |
X | g.25004691G= | CA2420205891 | ARX | c.1668C= (p.Ser556=)
| |
X | g.25004691G>T | CA412610530 | ARX | c.1668C>A (p.Ser556Arg)
| gnomAD v4 |
X | g.25004692C>A | CA412610531 | ARX | c.1667G>T (p.Ser556Ile)
| gnomAD v4 |
X | g.25004692C>G | CA412610532 | ARX | c.1667G>C (p.Ser556Thr)
| gnomAD v4 |
X | g.25004692C>T | CA412610533 | ARX | c.1667G>A (p.Ser556Asn)
| gnomAD v4 |
X | g.25004693T>A | CA412610534 | ARX | c.1666A>T (p.Ser556Cys)
| |
X | g.25004693T>C | CA412610536 | ARX | c.1666A>G (p.Ser556Gly)
| |
X | g.25004693T>G | CA412610535 | ARX | c.1666A>C (p.Ser556Arg)
| |
X | g.25004694G>A | CA515747779 | ARX | c.1665C>T (p.Thr555=)
| dbSNP gnomAD v4 |
X | g.25004694G>C | CA515747780 | ARX | c.1665C>G (p.Thr555=)
| |
X | g.25004694G= | CA2420205892 | ARX | c.1665C= (p.Thr555=)
| |
X | g.25004694G>T | CA515747782 | ARX | c.1665C>A (p.Thr555=)
| |
X | g.25004695G>A | CA412610537 | ARX | c.1664C>T (p.Thr555Ile)
| gnomAD v4 |
X | g.25004695G>C | CA412610538 | ARX | c.1664C>G (p.Thr555Ser)
| |
X | g.25004695G>T | CA412610539 | ARX | c.1664C>A (p.Thr555Asn)
| gnomAD v4 |
X | g.25004696T>A | CA412610540 | ARX | c.1663A>T (p.Thr555Ser)
| |
X | g.25004696T>C | CA412610541 | ARX | c.1663A>G (p.Thr555Ala)
| |
X | g.25004696T>G | CA412610542 | ARX | c.1663A>C (p.Thr555Pro)
| |
X | g.25004697G>A | CA515747788 | ARX | c.1662C>T (p.Gly554=)
| |
X | g.25004697G>C | CA515747789 | ARX | c.1662C>G (p.Gly554=)
| |
X | g.25004697G>T | CA515747790 | ARX | c.1662C>A (p.Gly554=)
| gnomAD v4 |
X | g.25004698C>A | CA412610543 | ARX | c.1661G>T (p.Gly554Val)
| |
X | g.25004698C= | CA2420205893 | ARX | c.1661G= (p.Gly554=)
| |
X | g.25004698C>G | CA412610544 | ARX | c.1661G>C (p.Gly554Ala)
| gnomAD v4 |
X | g.25004698C>T | CA327732406 | ARX | c.1661G>A (p.Gly554Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004699C>A | CA412610547 | ARX | c.1660G>T (p.Gly554Cys)
| gnomAD v4 |
X | g.25004699C>G | CA412610546 | ARX | c.1660G>C (p.Gly554Arg)
| |
X | g.25004699C>T | CA412610545 | ARX | c.1660G>A (p.Gly554Ser)
| |
X | g.25004700C>A | CA515747797 | ARX | c.1659G>T (p.Pro553=)
| |
X | g.25004700C>G | CA515747799 | ARX | c.1659G>C (p.Pro553=)
| |
X | g.25004700C>T | CA515747801 | ARX | c.1659G>A (p.Pro553=)
| ClinVar COSMIC |
X | g.25004701G>A | CA412610548 | ARX | c.1658C>T (p.Pro553Leu)
| |
X | g.25004701G>C | CA412610549 | ARX | c.1658C>G (p.Pro553Arg)
| |
X | g.25004701G>T | CA412610550 | ARX | c.1658C>A (p.Pro553Gln)
| |
X | g.25004702G>A | CA10373763 | ARX | c.1657C>T (p.Pro553Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004702G>C | CA412610551 | ARX | c.1657C>G (p.Pro553Ala)
| |
X | g.25004702G= | CA2420205894 | ARX | c.1657C= (p.Pro553=)
| |
X | g.25004702G>T | CA412610552 | ARX | c.1657C>A (p.Pro553Thr)
| |
X | g.25004703C>A | CA515747809 | ARX | c.1656G>T (p.Leu552=)
| gnomAD v4 |
X | g.25004703C>G | CA515747811 | ARX | c.1656G>C (p.Leu552=)
| |
X | g.25004703C>T | CA515747807 | ARX | c.1656G>A (p.Leu552=)
| |
X | g.25004704A>C | CA412610553 | ARX | c.1655T>G (p.Leu552Arg)
| |
X | g.25004704A>G | CA412610554 | ARX | c.1655T>C (p.Leu552Pro)
| |
X | g.25004704A>T | CA412610555 | ARX | c.1655T>A (p.Leu552Gln)
| |