OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48689042_48689638delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | CA2428355807 | WAS | c.1314_1453+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA c.1158_1297+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | |
| X | g.48689043_48689638del | CA915951088 | WAS | c.1315_1453+204del c.1159_1297+204del | ClinVar dbSNP |
| X | g.48689328_48689335del | CA2695233811 | WAS | n.591_598del c.1347_1354del (p.Ala450GlufsTer?) n.56_63del c.1191_1198del (p.Ala398GlufsTer?) | |
| X | g.48689333del | CA2579600765 | WAS | n.596del c.1352del (p.Pro451GlnfsTer20) n.61del c.1196del (p.Pro399GlnfsTer20) | |
| X | g.48689333C>A | CA412873800 | WAS | n.596C>A c.1352C>A (p.Pro451Gln) n.61C>A c.1196C>A (p.Pro399Gln) | |
| X | g.48689333C>G | CA412873801 | WAS | n.596C>G c.1352C>G (p.Pro451Arg) n.61C>G c.1196C>G (p.Pro399Arg) | |
| X | g.48689333C>T | CA412873802 | WAS | n.596C>T c.1352C>T (p.Pro451Leu) n.61C>T c.1196C>T (p.Pro399Leu) | |
| X | g.48689334A>C | CA516023871 | WAS | n.597A>C c.1353A>C (p.Pro451=) n.62A>C c.1197A>C (p.Pro399=) | |
| X | g.48689334A>G | CA516023872 | WAS | n.597A>G c.1353A>G (p.Pro451=) n.62A>G c.1197A>G (p.Pro399=) | |
| X | g.48689334A>T | CA516023873 | WAS | n.597A>T c.1353A>T (p.Pro451=) n.62A>T c.1197A>T (p.Pro399=) | |
| X | g.48689335G>A | CA329102747 | WAS | n.598G>A c.1354G>A (p.Glu452Lys) n.63G>A c.1198G>A (p.Glu400Lys) | dbSNP gnomAD v2 |
| X | g.48689335G>C | CA412873803 | WAS | n.598G>C c.1354G>C (p.Glu452Gln) n.63G>C c.1198G>C (p.Glu400Gln) | |
| X | g.48689335G= | CA2428355920 | WAS | n.598G= c.1354G= (p.Glu452=) n.63G= c.1198G= (p.Glu400=) | |
| X | g.48689335G>T | CA412873804 | WAS | n.598G>T c.1354G>T (p.Glu452Ter) n.63G>T c.1198G>T (p.Glu400Ter) | |
| X | g.48689336A>C | CA412873807 | WAS | n.599A>C c.1355A>C (p.Glu452Ala) n.64A>C c.1199A>C (p.Glu400Ala) | |
| X | g.48689336A>G | CA412873805 | WAS | n.599A>G c.1355A>G (p.Glu452Gly) n.64A>G c.1199A>G (p.Glu400Gly) | |
| X | g.48689336A>T | CA412873806 | WAS | n.599A>T c.1355A>T (p.Glu452Val) n.64A>T c.1199A>T (p.Glu400Val) | |
| X | g.48689337G>A | CA516023874 | WAS | n.600G>A c.1356G>A (p.Glu452=) n.65G>A c.1200G>A (p.Glu400=) | gnomAD v4 |
| X | g.48689337G>C | CA412873808 | WAS | n.600G>C c.1356G>C (p.Glu452Asp) n.65G>C c.1200G>C (p.Glu400Asp) | gnomAD v4 |
| X | g.48689337G= | CA2428355921 | WAS | n.600G= c.1356G= (p.Glu452=) n.65G= c.1200G= (p.Glu400=) | |
| X | g.48689337G>T | CA412873809 | WAS | n.600G>T c.1356G>T (p.Glu452Asp) n.65G>T c.1200G>T (p.Glu400Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689338A>C | CA412873810 | WAS | n.601A>C c.1357A>C (p.Ser453Arg) n.66A>C c.1201A>C (p.Ser401Arg) | |
| X | g.48689338A>G | CA412873811 | WAS | n.601A>G c.1357A>G (p.Ser453Gly) n.66A>G c.1201A>G (p.Ser401Gly) | |
| X | g.48689338A>T | CA412873812 | WAS | n.601A>T c.1357A>T (p.Ser453Cys) n.66A>T c.1201A>T (p.Ser401Cys) | |
| X | g.48689339G>A | CA412873813 | WAS | n.602G>A c.1358G>A (p.Ser453Asn) n.67G>A c.1202G>A (p.Ser401Asn) | |
| X | g.48689339G>C | CA329102755 | WAS | n.602G>C c.1358G>C (p.Ser453Thr) n.67G>C c.1202G>C (p.Ser401Thr) | dbSNP gnomAD v2 |
| X | g.48689339G= | CA2428355922 | WAS | n.602G= c.1358G= (p.Ser453=) n.67G= c.1202G= (p.Ser401=) | |
| X | g.48689339G>T | CA412873814 | WAS | n.602G>T c.1358G>T (p.Ser453Ile) n.67G>T c.1202G>T (p.Ser401Ile) | |
| X | g.48689340C>A | CA412873815 | WAS | n.603C>A c.1359C>A (p.Ser453Arg) n.68C>A c.1203C>A (p.Ser401Arg) | |
| X | g.48689340C>G | CA412873816 | WAS | n.603C>G c.1359C>G (p.Ser453Arg) n.68C>G c.1203C>G (p.Ser401Arg) | |
| X | g.48689340C>T | CA516023880 | WAS | n.603C>T c.1359C>T (p.Ser453=) n.68C>T c.1203C>T (p.Ser401=) | |
| X | g.48689341T>A | CA412873817 | WAS | n.604T>A c.1360T>A (p.Ser454Thr) n.69T>A c.1204T>A (p.Ser402Thr) | |
| X | g.48689341T>C | CA412873818 | WAS | n.604T>C c.1360T>C (p.Ser454Pro) n.69T>C c.1204T>C (p.Ser402Pro) | |
| X | g.48689341T>G | CA412873819 | WAS | n.604T>G c.1360T>G (p.Ser454Ala) n.69T>G c.1204T>G (p.Ser402Ala) | |
| X | g.48689342C>A | CA412873820 | WAS | n.605C>A c.1361C>A (p.Ser454Ter) n.70C>A c.1205C>A (p.Ser402Ter) | |
| X | g.48689342C>G | CA412873821 | WAS | n.605C>G c.1361C>G (p.Ser454Ter) n.70C>G c.1205C>G (p.Ser402Ter) | |
| X | g.48689342C>T | CA412873822 | WAS | n.605C>T c.1361C>T (p.Ser454Leu) n.70C>T c.1205C>T (p.Ser402Leu) | |
| X | g.48689343A>C | CA516023882 | WAS | n.606A>C c.1362A>C (p.Ser454=) n.71A>C c.1206A>C (p.Ser402=) | |
| X | g.48689343A>G | CA516023883 | WAS | n.606A>G c.1362A>G (p.Ser454=) n.71A>G c.1206A>G (p.Ser402=) | |
| X | g.48689343A>T | CA516023884 | WAS | n.606A>T c.1362A>T (p.Ser454=) n.71A>T c.1206A>T (p.Ser402=) | |
| X | g.48689344G>A | CA412873823 | WAS | n.607G>A c.1363G>A (p.Ala455Thr) n.72G>A c.1207G>A (p.Ala403Thr) | |
| X | g.48689344G>C | CA412873824 | WAS | n.607G>C c.1363G>C (p.Ala455Pro) n.72G>C c.1207G>C (p.Ala403Pro) | |
| X | g.48689344G>T | CA412873825 | WAS | n.607G>T c.1363G>T (p.Ala455Ser) n.72G>T c.1207G>T (p.Ala403Ser) | |
| X | g.48689345C>A | CA412873826 | WAS | n.608C>A c.1364C>A (p.Ala455Glu) n.73C>A c.1208C>A (p.Ala403Glu) | |
| X | g.48689345C= | CA2428355923 | WAS | n.608C= c.1364C= (p.Ala455=) n.73C= c.1208C= (p.Ala403=) | |
| X | g.48689345C>G | CA412873828 | WAS | n.608C>G c.1364C>G (p.Ala455Gly) n.73C>G c.1208C>G (p.Ala403Gly) | |
| X | g.48689345C>T | CA412873827 | WAS | n.608C>T c.1364C>T (p.Ala455Val) n.73C>T c.1208C>T (p.Ala403Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689346G>A | CA516023888 | WAS | n.609G>A c.1365G>A (p.Ala455=) n.74G>A c.1209G>A (p.Ala403=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689346G>C | CA516023889 | WAS | n.609G>C c.1365G>C (p.Ala455=) n.74G>C c.1209G>C (p.Ala403=) | |
| X | g.48689346G= | CA2428355924 | WAS | n.609G= c.1365G= (p.Ala455=) n.74G= c.1209G= (p.Ala403=) | |
| X | g.48689346G>T | CA516023890 | WAS | n.609G>T c.1365G>T (p.Ala455=) n.74G>T c.1209G>T (p.Ala403=) | |
| X | g.48689347C>A | CA412873829 | WAS | n.610C>A c.1366C>A (p.Leu456Met) n.75C>A c.1210C>A (p.Leu404Met) | |
| X | g.48689347C>G | CA412873830 | WAS | n.610C>G c.1366C>G (p.Leu456Val) n.75C>G c.1210C>G (p.Leu404Val) | |
| X | g.48689347C>T | CA516023892 | WAS | n.610C>T c.1366C>T (p.Leu456=) n.75C>T c.1210C>T (p.Leu404=) | ClinVar gnomAD v4 |
| X | g.48689348T>A | CA412873831 | WAS | n.611T>A c.1367T>A (p.Leu456Gln) n.76T>A c.1211T>A (p.Leu404Gln) | |
| X | g.48689348T>C | CA412873832 | WAS | n.611T>C c.1367T>C (p.Leu456Pro) n.76T>C c.1211T>C (p.Leu404Pro) | |
| X | g.48689348T>G | CA412873833 | WAS | n.611T>G c.1367T>G (p.Leu456Arg) n.76T>G c.1211T>G (p.Leu404Arg) | |
| X | g.48689349G>A | CA516023893 | WAS | c.1368G>A (p.Leu456=) n.77G>A c.1212G>A (p.Leu404=) | |
| X | g.48689349G>C | CA516023894 | WAS | c.1368G>C (p.Leu456=) n.77G>C c.1212G>C (p.Leu404=) | |
| X | g.48689349G>T | CA516023895 | WAS | c.1368G>T (p.Leu456=) n.77G>T c.1212G>T (p.Leu404=) | |
| X | g.48689350C>A | CA412873834 | WAS | c.1369C>A (p.Gln457Lys) n.78C>A c.1213C>A (p.Gln405Lys) | |
| X | g.48689350C= | CA2428355925 | WAS | c.1369C= (p.Gln457=) n.78C= c.1213C= (p.Gln405=) | |
| X | g.48689350C>G | CA412873835 | WAS | c.1369C>G (p.Gln457Glu) n.78C>G c.1213C>G (p.Gln405Glu) | |
| X | g.48689350C>T | CA412873836 | WAS | c.1369C>T (p.Gln457Ter) n.78C>T c.1213C>T (p.Gln405Ter) | dbSNP gnomAD v2 |
| X | g.48689351A>C | CA412873837 | WAS | c.1370A>C (p.Gln457Pro) n.79A>C c.1214A>C (p.Gln405Pro) | |
| X | g.48689351A>G | CA412873838 | WAS | c.1370A>G (p.Gln457Arg) n.79A>G c.1214A>G (p.Gln405Arg) | |
| X | g.48689351A>T | CA412873839 | WAS | c.1370A>T (p.Gln457Leu) n.79A>T c.1214A>T (p.Gln405Leu) | |
| X | g.48689352G>A | CA516023899 | WAS | c.1371G>A (p.Gln457=) n.80G>A c.1215G>A (p.Gln405=) | gnomAD v4 |
| X | g.48689352G>C | CA412873840 | WAS | c.1371G>C (p.Gln457His) n.80G>C c.1215G>C (p.Gln405His) | |
| X | g.48689352G>T | CA412873841 | WAS | c.1371G>T (p.Gln457His) n.80G>T c.1215G>T (p.Gln405His) | |
| X | g.48689353C>A | CA412873842 | WAS | c.1372C>A (p.Pro458Thr) n.81C>A c.1216C>A (p.Pro406Thr) | |
| X | g.48689353C>G | CA412873844 | WAS | c.1372C>G (p.Pro458Ala) n.81C>G c.1216C>G (p.Pro406Ala) | |
| X | g.48689353C>T | CA412873843 | WAS | c.1372C>T (p.Pro458Ser) n.81C>T c.1216C>T (p.Pro406Ser) | |
| X | g.48689354C>A | CA412873845 | WAS | c.1373C>A (p.Pro458Gln) n.82C>A c.1217C>A (p.Pro406Gln) | |
| X | g.48689354C>G | CA412873846 | WAS | c.1373C>G (p.Pro458Arg) n.82C>G c.1217C>G (p.Pro406Arg) | |
| X | g.48689354C>T | CA412873847 | WAS | c.1373C>T (p.Pro458Leu) n.82C>T c.1217C>T (p.Pro406Leu) | |
| X | g.48689354_48689355delinsCA | CA2428355926 | WAS | c.1373_1374delinsCA (p.Pro458=) n.82_83delinsCA c.1217_1218delinsCA (p.Pro406=) | |
| X | g.48689355del | CA915951090 | WAS | c.1374del (p.Pro459HisfsTer12) n.83del c.1218del (p.Pro407HisfsTer12) | ClinVar dbSNP |
| X | g.48689355A>C | CA516023903 | WAS | c.1374A>C (p.Pro458=) n.83A>C c.1218A>C (p.Pro406=) | |
| X | g.48689355A>G | CA516023904 | WAS | c.1374A>G (p.Pro458=) n.83A>G c.1218A>G (p.Pro406=) | |
| X | g.48689355A>T | CA516023905 | WAS | c.1374A>T (p.Pro458=) n.83A>T c.1218A>T (p.Pro406=) | |
| X | g.48689356C>A | CA412873848 | WAS | c.1375C>A (p.Pro459Thr) n.84C>A c.1219C>A (p.Pro407Thr) | |
| X | g.48689356C>G | CA412873849 | WAS | c.1375C>G (p.Pro459Ala) n.84C>G c.1219C>G (p.Pro407Ala) | |
| X | g.48689356C>T | CA412873850 | WAS | c.1375C>T (p.Pro459Ser) n.84C>T c.1219C>T (p.Pro407Ser) | |
| X | g.48689357C>A | CA412873851 | WAS | c.1376C>A (p.Pro459Gln) n.85C>A c.1220C>A (p.Pro407Gln) | |
| X | g.48689357C>G | CA412873852 | WAS | c.1376C>G (p.Pro459Arg) n.85C>G c.1220C>G (p.Pro407Arg) | |
| X | g.48689357C>T | CA412873853 | WAS | c.1376C>T (p.Pro459Leu) n.85C>T c.1220C>T (p.Pro407Leu) | |
| X | g.48689358_48689359dup | CA2695233812 | WAS | c.1377_1378dup (p.Pro460HisfsTer12) n.86_87dup c.1221_1222dup (p.Pro408HisfsTer12) | |
| X | g.48689358A>C | CA516023911 | WAS | c.1377A>C (p.Pro459=) n.86A>C c.1221A>C (p.Pro407=) | |
| X | g.48689358A>G | CA516023910 | WAS | c.1377A>G (p.Pro459=) n.86A>G c.1221A>G (p.Pro407=) | gnomAD v4 |
| X | g.48689358A>T | CA516023909 | WAS | c.1377A>T (p.Pro459=) n.86A>T c.1221A>T (p.Pro407=) | |
| X | g.48689359C>A | CA412873855 | WAS | c.1378C>A (p.Pro460Thr) n.87C>A c.1222C>A (p.Pro408Thr) | COSMIC |
| X | g.48689359C= | CA2428355927 | WAS | c.1378C= (p.Pro460=) n.87C= c.1222C= (p.Pro408=) | |
| X | g.48689359C>G | CA412873854 | WAS | c.1378C>G (p.Pro460Ala) n.87C>G c.1222C>G (p.Pro408Ala) | |
| X | g.48689359C>T | CA162678 | WAS | c.1378C>T (p.Pro460Ser) n.87C>T c.1222C>T (p.Pro408Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689360C>A | CA412873856 | WAS | c.1379C>A (p.Pro460His) n.88C>A c.1223C>A (p.Pro408His) | gnomAD v4 |
| X | g.48689360C= | CA2428355928 | WAS | c.1379C= (p.Pro460=) n.88C= c.1223C= (p.Pro408=) | |
| X | g.48689360C>G | CA412873857 | WAS | c.1379C>G (p.Pro460Arg) n.88C>G c.1223C>G (p.Pro408Arg) | ClinVar dbSNP |
| X | g.48689360C>T | CA10404085 | WAS | c.1379C>T (p.Pro460Leu) n.88C>T c.1223C>T (p.Pro408Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689361_48689362del | CA2579600766 | WAS | c.1380_1381del (p.Gln461GlufsTer?) n.89_90del c.1224_1225del (p.Gln409GlufsTer?) | |
| X | g.48689361T>A | CA516023915 | WAS | c.1380T>A (p.Pro460=) n.89T>A c.1224T>A (p.Pro408=) | |
| X | g.48689361T>C | CA516023916 | WAS | c.1380T>C (p.Pro460=) n.89T>C c.1224T>C (p.Pro408=) | |
| X | g.48689361T>G | CA516023917 | WAS | c.1380T>G (p.Pro460=) n.89T>G c.1224T>G (p.Pro408=) | |
| X | g.48689362C>A | CA412873858 | WAS | c.1381C>A (p.Gln461Lys) n.90C>A c.1225C>A (p.Gln409Lys) | gnomAD v4 |
| X | g.48689362C>G | CA412873859 | WAS | c.1381C>G (p.Gln461Glu) n.90C>G c.1225C>G (p.Gln409Glu) | |
| X | g.48689362C>T | CA412873860 | WAS | c.1381C>T (p.Gln461Ter) n.90C>T c.1225C>T (p.Gln409Ter) | |
| X | g.48689363A>C | CA412873861 | WAS | c.1382A>C (p.Gln461Pro) n.91A>C c.1226A>C (p.Gln409Pro) | |
| X | g.48689363A>G | CA412873862 | WAS | c.1382A>G (p.Gln461Arg) n.91A>G c.1226A>G (p.Gln409Arg) | |
| X | g.48689363A>T | CA412873863 | WAS | c.1382A>T (p.Gln461Leu) n.91A>T c.1226A>T (p.Gln409Leu) | |
| X | g.48689365_48689366del | CA2695233813 | WAS | c.1384_1385del (p.Ser462LeufsTer?) n.93_94del c.1228_1229del (p.Ser410LeufsTer?) | |
| X | g.48689364G>A | CA516023921 | WAS | c.1383G>A (p.Gln461=) n.92G>A c.1227G>A (p.Gln409=) | |
| X | g.48689364G>C | CA412873864 | WAS | c.1383G>C (p.Gln461His) n.92G>C c.1227G>C (p.Gln409His) | |
| X | g.48689364G>T | CA412873865 | WAS | c.1383G>T (p.Gln461His) n.92G>T c.1227G>T (p.Gln409His) | |
| X | g.48689365A>C | CA412873866 | WAS | c.1384A>C (p.Ser462Arg) n.93A>C c.1228A>C (p.Ser410Arg) | |
| X | g.48689365A>G | CA412873867 | WAS | c.1384A>G (p.Ser462Gly) n.93A>G c.1228A>G (p.Ser410Gly) | |
| X | g.48689365A>T | CA412873868 | WAS | c.1384A>T (p.Ser462Cys) n.93A>T c.1228A>T (p.Ser410Cys) | |
| X | g.48689366G>A | CA412873871 | WAS | c.1385G>A (p.Ser462Asn) n.94G>A c.1229G>A (p.Ser410Asn) | |
| X | g.48689366G>C | CA412873870 | WAS | c.1385G>C (p.Ser462Thr) n.94G>C c.1229G>C (p.Ser410Thr) | |
| X | g.48689366G>T | CA412873869 | WAS | c.1385G>T (p.Ser462Ile) n.94G>T c.1229G>T (p.Ser410Ile) | |
| X | g.48689367C>A | CA412873872 | WAS | c.1386C>A (p.Ser462Arg) n.95C>A c.1230C>A (p.Ser410Arg) | |
| X | g.48689367C>G | CA412873873 | WAS | c.1386C>G (p.Ser462Arg) n.95C>G c.1230C>G (p.Ser410Arg) | |
| X | g.48689367C>T | CA516023925 | WAS | c.1386C>T (p.Ser462=) n.95C>T c.1230C>T (p.Ser410=) | |
| X | g.48689368T>A | CA412873874 | WAS | c.1387T>A (p.Ser463Thr) n.96T>A c.1231T>A (p.Ser411Thr) | |
| X | g.48689368T>C | CA412873875 | WAS | c.1387T>C (p.Ser463Pro) n.96T>C c.1231T>C (p.Ser411Pro) | |
| X | g.48689368T>G | CA412873876 | WAS | c.1387T>G (p.Ser463Ala) n.96T>G c.1231T>G (p.Ser411Ala) | |
| X | g.48689369C>A | CA412873877 | WAS | c.1388C>A (p.Ser463Ter) n.97C>A c.1232C>A (p.Ser411Ter) | |
| X | g.48689369C= | CA2428355929 | WAS | c.1388C= (p.Ser463=) n.97C= c.1232C= (p.Ser411=) | |
| X | g.48689369C>G | CA412873878 | WAS | c.1388C>G (p.Ser463Ter) n.97C>G c.1232C>G (p.Ser411Ter) | |
| X | g.48689369C>T | CA10404086 | WAS | c.1388C>T (p.Ser463Leu) n.97C>T c.1232C>T (p.Ser411Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689370A>C | CA516023928 | WAS | c.1389A>C (p.Ser463=) n.98A>C c.1233A>C (p.Ser411=) | |
| X | g.48689370A>G | CA516023930 | WAS | c.1389A>G (p.Ser463=) n.98A>G c.1233A>G (p.Ser411=) | |
| X | g.48689370A>T | CA516023931 | WAS | c.1389A>T (p.Ser463=) n.98A>T c.1233A>T (p.Ser411=) | |
| X | g.48689371G>A | CA412873879 | WAS | c.1390G>A (p.Glu464Lys) n.99G>A c.1234G>A (p.Glu412Lys) | gnomAD v4 |
| X | g.48689371G>C | CA412873880 | WAS | c.1390G>C (p.Glu464Gln) n.99G>C c.1234G>C (p.Glu412Gln) | gnomAD v4 COSMIC |
| X | g.48689371G>T | CA412873881 | WAS | c.1390G>T (p.Glu464Ter) n.99G>T c.1234G>T (p.Glu412Ter) | |
| X | g.48689372A= | CA2428355930 | WAS | c.1391A= (p.Glu464=) n.100A= c.1235A= (p.Glu412=) | |
| X | g.48689372A>C | CA412873884 | WAS | c.1391A>C (p.Glu464Ala) n.100A>C c.1235A>C (p.Glu412Ala) | |
| X | g.48689372A>G | CA412873883 | WAS | c.1391A>G (p.Glu464Gly) n.100A>G c.1235A>G (p.Glu412Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.48689372A>T | CA412873882 | WAS | c.1391A>T (p.Glu464Val) n.100A>T c.1235A>T (p.Glu412Val) | |
| X | g.48689373G>A | CA516023932 | WAS | c.1392G>A (p.Glu464=) n.101G>A c.1236G>A (p.Glu412=) | gnomAD v4 |
| X | g.48689373G>C | CA412873885 | WAS | c.1392G>C (p.Glu464Asp) n.101G>C c.1236G>C (p.Glu412Asp) | |
| X | g.48689373G= | CA2428355931 | WAS | c.1392G= (p.Glu464=) n.101G= c.1236G= (p.Glu412=) | |
| X | g.48689373G>T | CA412873886 | WAS | c.1392G>T (p.Glu464Asp) n.101G>T c.1236G>T (p.Glu412Asp) | COSMIC |
| X | g.48689374G>A | CA412873887 | WAS | c.1393G>A (p.Gly465Arg) n.102G>A c.1237G>A (p.Gly413Arg) | |
| X | g.48689374G>C | CA412873888 | WAS | c.1393G>C (p.Gly465Arg) n.102G>C c.1237G>C (p.Gly413Arg) | |
| X | g.48689374G>T | CA412873889 | WAS | c.1393G>T (p.Gly465Ter) n.102G>T c.1237G>T (p.Gly413Ter) | |
| X | g.48689376_48689380dup | CA1139667534 | WAS | c.1395_1399dup (p.Val467AspfsTer6) n.104_108dup c.1239_1243dup (p.Val415AspfsTer6) | ClinVar dbSNP |
| X | g.48689375G>A | CA412873890 | WAS | c.1394G>A (p.Gly465Glu) n.103G>A c.1238G>A (p.Gly413Glu) | gnomAD v4 |
| X | g.48689375G>C | CA412873891 | WAS | c.1394G>C (p.Gly465Ala) n.103G>C c.1238G>C (p.Gly413Ala) | |
| X | g.48689375G>T | CA412873892 | WAS | c.1394G>T (p.Gly465Val) n.103G>T c.1238G>T (p.Gly413Val) | |
| X | g.48689376A>C | CA516023935 | WAS | c.1395A>C (p.Gly465=) n.104A>C c.1239A>C (p.Gly413=) | |
| X | g.48689376A>G | CA516023937 | WAS | c.1395A>G (p.Gly465=) n.104A>G c.1239A>G (p.Gly413=) | |
| X | g.48689376A>T | CA516023939 | WAS | c.1395A>T (p.Gly465=) n.104A>T c.1239A>T (p.Gly413=) | |
| X | g.48689377C>A | CA412873894 | WAS | c.1396C>A (p.Leu466Met) n.105C>A c.1240C>A (p.Leu414Met) | |
| X | g.48689377C>G | CA412873895 | WAS | c.1396C>G (p.Leu466Val) n.105C>G c.1240C>G (p.Leu414Val) | |
| X | g.48689377C>T | CA516023940 | WAS | c.1396C>T (p.Leu466=) n.105C>T c.1240C>T (p.Leu414=) | |
| X | g.48689378T>A | CA412873896 | WAS | c.1397T>A (p.Leu466Gln) n.106T>A c.1241T>A (p.Leu414Gln) | |
| X | g.48689378T>C | CA412873897 | WAS | c.1397T>C (p.Leu466Pro) n.106T>C c.1241T>C (p.Leu414Pro) | |
| X | g.48689378T>G | CA412873898 | WAS | c.1397T>G (p.Leu466Arg) n.106T>G c.1241T>G (p.Leu414Arg) | |
| X | g.48689378_48689383delinsTGGTGG | CA2428355932 | WAS | c.1397_1402delinsTGGTGG (p.Leu466=) n.106_111delinsTGGTGG c.1241_1246delinsTGGTGG (p.Leu414=) | |
| X | g.48689379G>A | CA516023944 | WAS | c.1398G>A (p.Leu466=) n.107G>A c.1242G>A (p.Leu414=) | |
| X | g.48689379G>C | CA516023942 | WAS | c.1398G>C (p.Leu466=) n.107G>C c.1242G>C (p.Leu414=) | |
| X | g.48689379G>T | CA516023941 | WAS | c.1398G>T (p.Leu466=) n.107G>T c.1242G>T (p.Leu414=) | |
| X | g.48689381_48689385del | CA2428355933 | WAS | c.1400_1404del (p.Val467GlyfsTer26) c.1400_1404del (p.Val467GlyfsTer?) n.109_113del c.1244_1248del (p.Val415GlyfsTer26) | dbSNP |
| X | g.48689380G>A | CA412873902 | WAS | c.1399G>A (p.Val467Met) n.108G>A c.1243G>A (p.Val415Met) | |
| X | g.48689380G>C | CA412873899 | WAS | c.1399G>C (p.Val467Leu) n.108G>C c.1243G>C (p.Val415Leu) | |
| X | g.48689380G>T | CA412873901 | WAS | c.1399G>T (p.Val467Leu) n.108G>T c.1243G>T (p.Val415Leu) | |
| X | g.48689381T>A | CA412873903 | WAS | c.1400T>A (p.Val467Glu) n.109T>A c.1244T>A (p.Val415Glu) | |
| X | g.48689381T>C | CA412873904 | WAS | c.1400T>C (p.Val467Ala) n.109T>C c.1244T>C (p.Val415Ala) | |
| X | g.48689381T>G | CA412873905 | WAS | c.1400T>G (p.Val467Gly) n.109T>G c.1244T>G (p.Val415Gly) | |
| X | g.48689381T= | CA2428355934 | WAS | c.1400T= (p.Val467=) n.109T= c.1244T= (p.Val415=) | |
| X | g.48689382G>A | CA516023948 | WAS | c.1401G>A (p.Val467=) n.110G>A c.1245G>A (p.Val415=) | gnomAD v4 |
| X | g.48689382G>C | CA516023947 | WAS | c.1401G>C (p.Val467=) n.110G>C c.1245G>C (p.Val415=) | dbSNP |
| X | g.48689382G= | CA2428355935 | WAS | c.1401G= (p.Val467=) n.110G= c.1245G= (p.Val415=) | |
| X | g.48689382G>T | CA516023946 | WAS | c.1401G>T (p.Val467=) n.110G>T c.1245G>T (p.Val415=) | |
| X | g.48689386dup | CA1139667535 | WAS | c.1405dup (p.Ala469GlyfsTer26) c.1405dup (p.Ala469GlyfsTer?) n.114dup c.1249dup (p.Ala417GlyfsTer26) | ClinVar dbSNP |
| X | g.48689383G>A | CA412873906 | WAS | c.1402G>A (p.Gly468Arg) n.111G>A c.1246G>A (p.Gly416Arg) | |
| X | g.48689383G>C | CA412873907 | WAS | c.1402G>C (p.Gly468Arg) n.111G>C c.1246G>C (p.Gly416Arg) | |
| X | g.48689383G>T | CA412873908 | WAS | c.1402G>T (p.Gly468Trp) n.111G>T c.1246G>T (p.Gly416Trp) | |
| X | g.48689384G>A | CA412873909 | WAS | c.1403G>A (p.Gly468Glu) n.112G>A c.1247G>A (p.Gly416Glu) | |
| X | g.48689384G>C | CA412873910 | WAS | c.1403G>C (p.Gly468Ala) n.112G>C c.1247G>C (p.Gly416Ala) | |
| X | g.48689384G>T | CA412873911 | WAS | c.1403G>T (p.Gly468Val) n.112G>T c.1247G>T (p.Gly416Val) | |
| X | g.48689385G>A | CA516023952 | WAS | c.1404G>A (p.Gly468=) n.113G>A c.1248G>A (p.Gly416=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689385G>C | CA516023954 | WAS | c.1404G>C (p.Gly468=) n.113G>C c.1248G>C (p.Gly416=) | |
| X | g.48689385G= | CA2428355936 | WAS | c.1404G= (p.Gly468=) n.113G= c.1248G= (p.Gly416=) | |
| X | g.48689385G>T | CA516023953 | WAS | c.1404G>T (p.Gly468=) n.113G>T c.1248G>T (p.Gly416=) | |
| X | g.48689386G>A | CA412873912 | WAS | c.1405G>A (p.Ala469Thr) n.114G>A c.1249G>A (p.Ala417Thr) | |
| X | g.48689386G>C | CA412873913 | WAS | c.1405G>C (p.Ala469Pro) n.114G>C c.1249G>C (p.Ala417Pro) | |
| X | g.48689386G>T | CA412873914 | WAS | c.1405G>T (p.Ala469Ser) n.114G>T c.1249G>T (p.Ala417Ser) | |
| X | g.48689387C>A | CA412873916 | WAS | c.1406C>A (p.Ala469Asp) n.115C>A c.1250C>A (p.Ala417Asp) | |
| X | g.48689387C>G | CA412873917 | WAS | c.1406C>G (p.Ala469Gly) n.115C>G c.1250C>G (p.Ala417Gly) | |
| X | g.48689387C>T | CA412873915 | WAS | c.1406C>T (p.Ala469Val) n.115C>T c.1250C>T (p.Ala417Val) | |
| X | g.48689388C>A | CA516023958 | WAS | c.1407C>A (p.Ala469=) n.116C>A c.1251C>A (p.Ala417=) | |
| X | g.48689388C= | CA2428355937 | WAS | c.1407C= (p.Ala469=) n.116C= c.1251C= (p.Ala417=) | |
| X | g.48689388C>G | CA516023959 | WAS | c.1407C>G (p.Ala469=) n.116C>G c.1251C>G (p.Ala417=) | |
| X | g.48689388C>T | CA10404087 | WAS | c.1407C>T (p.Ala469=) n.116C>T c.1251C>T (p.Ala417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48689389C>A | CA412873918 | WAS | c.1408C>A (p.Leu470Met) n.117C>A c.1252C>A (p.Leu418Met) | |
| X | g.48689389C>G | CA412873919 | WAS | c.1408C>G (p.Leu470Val) n.117C>G c.1252C>G (p.Leu418Val) | |
| X | g.48689389C>T | CA516023960 | WAS | c.1408C>T (p.Leu470=) n.117C>T c.1252C>T (p.Leu418=) | |
| X | g.48689390T>A | CA412873920 | WAS | c.1409T>A (p.Leu470Gln) n.118T>A c.1253T>A (p.Leu418Gln) | |
| X | g.48689390T>C | CA412873921 | WAS | c.1409T>C (p.Leu470Pro) n.118T>C c.1253T>C (p.Leu418Pro) | gnomAD v4 |
| X | g.48689390T>G | CA412873922 | WAS | c.1409T>G (p.Leu470Arg) n.118T>G c.1253T>G (p.Leu418Arg) | |
| X | g.48689397_48689405del | CA2580101080 | WAS | c.1416_1424del (p.His472_Met474del) n.125_133del c.1260_1268del (p.His420_Met422del) | ClinVar |
| X | g.48689391G>A | CA516023961 | WAS | c.1410G>A (p.Leu470=) n.119G>A c.1254G>A (p.Leu418=) | gnomAD v4 |
| X | g.48689391G>C | CA516023962 | WAS | c.1410G>C (p.Leu470=) n.119G>C c.1254G>C (p.Leu418=) | |
| X | g.48689391G>T | CA516023963 | WAS | c.1410G>T (p.Leu470=) n.119G>T c.1254G>T (p.Leu418=) | |
| X | g.48689392A>C | CA412873925 | WAS | c.1411A>C (p.Met471Leu) n.120A>C c.1255A>C (p.Met419Leu) | |
| X | g.48689392A>G | CA412873923 | WAS | c.1411A>G (p.Met471Val) n.120A>G c.1255A>G (p.Met419Val) | |
| X | g.48689392A>T | CA412873924 | WAS | c.1411A>T (p.Met471Leu) n.120A>T c.1255A>T (p.Met419Leu) | gnomAD v4 |
| X | g.48689393T>A | CA412873926 | WAS | c.1412T>A (p.Met471Lys) n.121T>A c.1256T>A (p.Met419Lys) | |
| X | g.48689393T>C | CA412873927 | WAS | c.1412T>C (p.Met471Thr) n.121T>C c.1256T>C (p.Met419Thr) | |
| X | g.48689393T>G | CA412873928 | WAS | c.1412T>G (p.Met471Arg) n.121T>G c.1256T>G (p.Met419Arg) | |
| X | g.48689394G>A | CA412873930 | WAS | c.1413G>A (p.Met471Ile) n.122G>A c.1257G>A (p.Met419Ile) | gnomAD v4 |
| X | g.48689394G>C | CA412873931 | WAS | c.1413G>C (p.Met471Ile) n.122G>C c.1257G>C (p.Met419Ile) | |
| X | g.48689394G>T | CA412873932 | WAS | c.1413G>T (p.Met471Ile) n.122G>T c.1257G>T (p.Met419Ile) | |
| X | g.48689395C>A | CA412873933 | WAS | c.1414C>A (p.His472Asn) n.123C>A c.1258C>A (p.His420Asn) | |
| X | g.48689395C= | CA2428355938 | WAS | c.1414C= (p.His472=) n.123C= c.1258C= (p.His420=) | |
| X | g.48689395C>G | CA412873935 | WAS | c.1414C>G (p.His472Asp) n.123C>G c.1258C>G (p.His420Asp) | dbSNP |
| X | g.48689395C>T | CA412873934 | WAS | c.1414C>T (p.His472Tyr) n.123C>T c.1258C>T (p.His420Tyr) | |
| X | g.48689396A>C | CA412873936 | WAS | c.1415A>C (p.His472Pro) n.124A>C c.1259A>C (p.His420Pro) | |
| X | g.48689396A>G | CA412873937 | WAS | c.1415A>G (p.His472Arg) n.124A>G c.1259A>G (p.His420Arg) | |
| X | g.48689396A>T | CA412873938 | WAS | c.1415A>T (p.His472Leu) n.124A>T c.1259A>T (p.His420Leu) | |
| X | g.48689397C>A | CA412873939 | WAS | c.1416C>A (p.His472Gln) n.125C>A c.1260C>A (p.His420Gln) | |
| X | g.48689397C= | CA2428355939 | WAS | c.1416C= (p.His472=) n.125C= c.1260C= (p.His420=) | |
| X | g.48689397C>G | CA412873940 | WAS | c.1416C>G (p.His472Gln) n.125C>G c.1260C>G (p.His420Gln) | |
| X | g.48689397C>T | CA10404088 | WAS | c.1416C>T (p.His472=) n.125C>T c.1260C>T (p.His420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48689398G>A | CA412873941 | WAS | c.1417G>A (p.Val473Met) n.126G>A c.1261G>A (p.Val421Met) | ClinVar gnomAD v4 |
| X | g.48689398G>C | CA412873942 | WAS | c.1417G>C (p.Val473Leu) n.126G>C c.1261G>C (p.Val421Leu) | |
| X | g.48689398G>T | CA412873943 | WAS | c.1417G>T (p.Val473Leu) n.126G>T c.1261G>T (p.Val421Leu) | |
| X | g.48689399T>A | CA412873944 | WAS | c.1418T>A (p.Val473Glu) n.127T>A c.1262T>A (p.Val421Glu) | |
| X | g.48689399T>C | CA412873945 | WAS | c.1418T>C (p.Val473Ala) n.127T>C c.1262T>C (p.Val421Ala) | |
| X | g.48689399T>G | CA412873946 | WAS | c.1418T>G (p.Val473Gly) n.127T>G c.1262T>G (p.Val421Gly) | |
| X | g.48689400G>A | CA516023972 | WAS | c.1419G>A (p.Val473=) n.128G>A c.1263G>A (p.Val421=) | |
| X | g.48689400G>C | CA516023973 | WAS | c.1419G>C (p.Val473=) n.128G>C c.1263G>C (p.Val421=) | |
| X | g.48689400G>T | CA516023971 | WAS | c.1419G>T (p.Val473=) n.128G>T c.1263G>T (p.Val421=) | |
| X | g.48689401A>C | CA412873949 | WAS | c.1420A>C (p.Met474Leu) n.129A>C c.1264A>C (p.Met422Leu) | |
| X | g.48689401A>G | CA412873947 | WAS | c.1420A>G (p.Met474Val) n.129A>G c.1264A>G (p.Met422Val) | |
| X | g.48689401A>T | CA412873948 | WAS | c.1420A>T (p.Met474Leu) n.129A>T c.1264A>T (p.Met422Leu) | |
| X | g.48689402T>A | CA412873950 | WAS | c.1421T>A (p.Met474Lys) n.130T>A c.1265T>A (p.Met422Lys) | |
| X | g.48689402T>C | CA412873951 | WAS | c.1421T>C (p.Met474Thr) n.130T>C c.1265T>C (p.Met422Thr) | |
| X | g.48689402T>G | CA412873952 | WAS | c.1421T>G (p.Met474Arg) n.130T>G c.1265T>G (p.Met422Arg) | |
| X | g.48689403G>A | CA412873953 | WAS | c.1422G>A (p.Met474Ile) n.131G>A c.1266G>A (p.Met422Ile) | gnomAD v4 |
| X | g.48689403G>C | CA412873954 | WAS | c.1422G>C (p.Met474Ile) n.131G>C c.1266G>C (p.Met422Ile) | |
| X | g.48689403G= | CA2428355940 | WAS | c.1422G= (p.Met474=) n.131G= c.1266G= (p.Met422=) | |
| X | g.48689403G>T | CA412873955 | WAS | c.1422G>T (p.Met474Ile) n.131G>T c.1266G>T (p.Met422Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689404C>A | CA412873958 | WAS | c.1423C>A (p.Gln475Lys) n.132C>A c.1267C>A (p.Gln423Lys) | |
| X | g.48689404C= | CA2428355941 | WAS | c.1423C= (p.Gln475=) n.132C= c.1267C= (p.Gln423=) | |
| X | g.48689404C>G | CA412873956 | WAS | c.1423C>G (p.Gln475Glu) n.132C>G c.1267C>G (p.Gln423Glu) | |
| X | g.48689404C>T | CA412873957 | WAS | c.1423C>T (p.Gln475Ter) n.132C>T c.1267C>T (p.Gln423Ter) | ClinVar dbSNP |
| X | g.48689405A>C | CA412873959 | WAS | c.1424A>C (p.Gln475Pro) n.133A>C c.1268A>C (p.Gln423Pro) | |
| X | g.48689405A>G | CA412873960 | WAS | c.1424A>G (p.Gln475Arg) n.133A>G c.1268A>G (p.Gln423Arg) | gnomAD v4 |
| X | g.48689405A>T | CA412873961 | WAS | c.1424A>T (p.Gln475Leu) n.133A>T c.1268A>T (p.Gln423Leu) | |
| X | g.48689410_48689414del | CA2695233814 | WAS | c.1429_1433del (p.Arg477GlnfsTer16) c.1429_1433del (p.Arg477GlnfsTer?) n.138_142del c.1273_1277del (p.Arg425GlnfsTer16) | |
| X | g.48689406G>A | CA516023980 | WAS | c.1425G>A (p.Gln475=) n.134G>A c.1269G>A (p.Gln423=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48689406G>C | CA412873962 | WAS | c.1425G>C (p.Gln475His) n.134G>C c.1269G>C (p.Gln423His) | dbSNP |
| X | g.48689406G= | CA2428355942 | WAS | c.1425G= (p.Gln475=) n.134G= c.1269G= (p.Gln423=) | |
| X | g.48689406G>T | CA412873963 | WAS | c.1425G>T (p.Gln475His) n.134G>T c.1269G>T (p.Gln423His) | |
| X | g.48689407A>C | CA412873966 | WAS | c.1426A>C (p.Lys476Gln) n.135A>C c.1270A>C (p.Lys424Gln) | |
| X | g.48689407A>G | CA412873964 | WAS | c.1426A>G (p.Lys476Glu) n.135A>G c.1270A>G (p.Lys424Glu) | |
| X | g.48689407A>T | CA412873965 | WAS | c.1426A>T (p.Lys476Ter) n.135A>T c.1270A>T (p.Lys424Ter) | |
| X | g.48689408A>C | CA412873967 | WAS | c.1427A>C (p.Lys476Thr) n.136A>C c.1271A>C (p.Lys424Thr) | |
| X | g.48689408A>G | CA412873968 | WAS | c.1427A>G (p.Lys476Arg) n.136A>G c.1271A>G (p.Lys424Arg) | |
| X | g.48689408A>T | CA412873969 | WAS | c.1427A>T (p.Lys476Met) n.136A>T c.1271A>T (p.Lys424Met) | |
| X | g.48689409G>A | CA516023988 | WAS | c.1428G>A (p.Lys476=) n.137G>A c.1272G>A (p.Lys424=) | COSMIC |
| X | g.48689409G>C | CA412873970 | WAS | c.1428G>C (p.Lys476Asn) n.137G>C c.1272G>C (p.Lys424Asn) | |
| X | g.48689409G>T | CA412873971 | WAS | c.1428G>T (p.Lys476Asn) n.137G>T c.1272G>T (p.Lys424Asn) | |
| X | g.48689410A>C | CA516023990 | WAS | c.1429A>C (p.Arg477=) n.138A>C c.1273A>C (p.Arg425=) | gnomAD v4 |
| X | g.48689410A>G | CA412873972 | WAS | c.1429A>G (p.Arg477Gly) n.138A>G c.1273A>G (p.Arg425Gly) | ClinVar dbSNP |
| X | g.48689410A>T | CA412873973 | WAS | c.1429A>T (p.Arg477Ter) n.138A>T c.1273A>T (p.Arg425Ter) | |
| X | g.48689411G>A | CA412873974 | WAS | c.1430G>A (p.Arg477Lys) n.139G>A c.1274G>A (p.Arg425Lys) | |
| X | g.48689411G>C | CA412873975 | WAS | c.1430G>C (p.Arg477Thr) n.139G>C c.1274G>C (p.Arg425Thr) | |
| X | g.48689411G>T | CA412873976 | WAS | c.1430G>T (p.Arg477Ile) n.139G>T c.1274G>T (p.Arg425Ile) | |
| X | g.48689412A>C | CA412873977 | WAS | c.1431A>C (p.Arg477Ser) n.140A>C c.1275A>C (p.Arg425Ser) | |
| X | g.48689412A>G | CA516023991 | WAS | c.1431A>G (p.Arg477=) n.140A>G c.1275A>G (p.Arg425=) | |
| X | g.48689412A>T | CA412873978 | WAS | c.1431A>T (p.Arg477Ser) n.140A>T c.1275A>T (p.Arg425Ser) | |
| X | g.48689413A>C | CA412873979 | WAS | c.1432A>C (p.Ser478Arg) n.141A>C c.1276A>C (p.Ser426Arg) | |
| X | g.48689413A>G | CA412873981 | WAS | c.1432A>G (p.Ser478Gly) n.141A>G c.1276A>G (p.Ser426Gly) | gnomAD v4 |
| X | g.48689413A>T | CA412873980 | WAS | c.1432A>T (p.Ser478Cys) n.141A>T c.1276A>T (p.Ser426Cys) | |
| X | g.48689414G>A | CA412873982 | WAS | c.1433G>A (p.Ser478Asn) n.142G>A c.1277G>A (p.Ser426Asn) | |
| X | g.48689414G>C | CA412873984 | WAS | c.1433G>C (p.Ser478Thr) n.142G>C c.1277G>C (p.Ser426Thr) | |
| X | g.48689414G>T | CA412873983 | WAS | c.1433G>T (p.Ser478Ile) n.142G>T c.1277G>T (p.Ser426Ile) | |
| X | g.48689414dup | CA2695233815 | WAS | c.1433dup (p.Ser478ArgfsTer17) c.1433dup (p.Ser478ArgfsTer?) n.142dup c.1277dup (p.Ser426ArgfsTer17) | |
| X | g.48689415C>A | CA412873985 | WAS | c.1434C>A (p.Ser478Arg) n.143C>A c.1278C>A (p.Ser426Arg) | gnomAD v4 |
| X | g.48689415C= | CA2428355943 | WAS | c.1434C= (p.Ser478=) n.143C= c.1278C= (p.Ser426=) | |
| X | g.48689415C>G | CA412873986 | WAS | c.1434C>G (p.Ser478Arg) n.143C>G c.1278C>G (p.Ser426Arg) | dbSNP |
| X | g.48689415C>T | CA516024000 | WAS | c.1434C>T (p.Ser478=) n.143C>T c.1278C>T (p.Ser426=) | |
| X | g.48689416A>C | CA516024001 | WAS | c.1435A>C (p.Arg479=) n.144A>C c.1279A>C (p.Arg427=) | |
| X | g.48689416A>G | CA412873987 | WAS | c.1435A>G (p.Arg479Gly) n.144A>G c.1279A>G (p.Arg427Gly) | |
| X | g.48689416A>T | CA412873988 | WAS | c.1435A>T (p.Arg479Ter) n.144A>T c.1279A>T (p.Arg427Ter) | |
| X | g.48689417G>A | CA412873989 | WAS | c.1436G>A (p.Arg479Lys) n.145G>A c.1280G>A (p.Arg427Lys) | |
| X | g.48689417G>C | CA412873990 | WAS | c.1436G>C (p.Arg479Thr) n.145G>C c.1280G>C (p.Arg427Thr) | gnomAD v4 |
| X | g.48689417G>T | CA412873991 | WAS | c.1436G>T (p.Arg479Ile) n.145G>T c.1280G>T (p.Arg427Ile) | |
| X | g.48689418A>C | CA412873992 | WAS | c.1437A>C (p.Arg479Ser) n.146A>C c.1281A>C (p.Arg427Ser) | |
| X | g.48689418A>G | CA516024002 | WAS | c.1437A>G (p.Arg479=) n.146A>G c.1281A>G (p.Arg427=) | gnomAD v4 |
| X | g.48689418A>T | CA412873993 | WAS | c.1437A>T (p.Arg479Ser) n.146A>T c.1281A>T (p.Arg427Ser) | gnomAD v4 |
| X | g.48689419G>A | CA412873994 | WAS | c.1438G>A (p.Ala480Thr) n.147G>A c.1282G>A (p.Ala428Thr) | |
| X | g.48689419G>C | CA412873995 | WAS | c.1438G>C (p.Ala480Pro) n.147G>C c.1282G>C (p.Ala428Pro) | |
| X | g.48689419G>T | CA412873996 | WAS | c.1438G>T (p.Ala480Ser) n.147G>T c.1282G>T (p.Ala428Ser) | |
| X | g.48689420C>A | CA412873997 | WAS | c.1439C>A (p.Ala480Asp) n.148C>A c.1283C>A (p.Ala428Asp) | |
| X | g.48689420C>G | CA412873999 | WAS | c.1439C>G (p.Ala480Gly) n.148C>G c.1283C>G (p.Ala428Gly) | |
| X | g.48689420C>T | CA412873998 | WAS | c.1439C>T (p.Ala480Val) n.148C>T c.1283C>T (p.Ala428Val) | COSMIC |
| X | g.48689421C>A | CA516024004 | WAS | c.1440C>A (p.Ala480=) n.149C>A c.1284C>A (p.Ala428=) | |
| X | g.48689421C= | CA2428355944 | WAS | c.1440C= (p.Ala480=) n.149C= c.1284C= (p.Ala428=) | |
| X | g.48689421C>G | CA516024005 | WAS | c.1440C>G (p.Ala480=) n.149C>G c.1284C>G (p.Ala428=) | |
| X | g.48689421C>T | CA516024006 | WAS | c.1440C>T (p.Ala480=) n.149C>T c.1284C>T (p.Ala428=) | ClinVar dbSNP gnomAD v4 |
| X | g.48689422A>C | CA412874000 | WAS | c.1441A>C (p.Ile481Leu) n.150A>C c.1285A>C (p.Ile429Leu) | |
| X | g.48689422A>G | CA412874001 | WAS | c.1441A>G (p.Ile481Val) n.150A>G c.1285A>G (p.Ile429Val) | gnomAD v4 |
| X | g.48689422A>T | CA412874002 | WAS | c.1441A>T (p.Ile481Phe) n.150A>T c.1285A>T (p.Ile429Phe) | |
| X | g.48689423T>A | CA121363 | WAS | c.1442T>A (p.Ile481Asn) n.151T>A c.1286T>A (p.Ile429Asn) | ClinVar dbSNP |
| X | g.48689423T>C | CA412874003 | WAS | c.1442T>C (p.Ile481Thr) n.151T>C c.1286T>C (p.Ile429Thr) | |
| X | g.48689423T>G | CA412874004 | WAS | c.1442T>G (p.Ile481Ser) n.151T>G c.1286T>G (p.Ile429Ser) | |
| X | g.48689423T= | CA2428355945 | WAS | c.1442T= (p.Ile481=) n.151T= c.1286T= (p.Ile429=) | |
| X | g.48689424C>A | CA516024008 | WAS | c.1443C>A (p.Ile481=) n.152C>A c.1287C>A (p.Ile429=) | |
| X | g.48689424C>G | CA412874005 | WAS | c.1443C>G (p.Ile481Met) n.152C>G c.1287C>G (p.Ile429Met) | |
| X | g.48689424C>T | CA516024010 | WAS | c.1443C>T (p.Ile481=) n.152C>T c.1287C>T (p.Ile429=) | |
| X | g.48689425C>A | CA412874006 | WAS | c.1444C>A (p.His482Asn) n.153C>A c.1288C>A (p.His430Asn) | |
| X | g.48689425C>G | CA412874007 | WAS | c.1444C>G (p.His482Asp) n.153C>G c.1288C>G (p.His430Asp) | |
| X | g.48689425C>T | CA412874008 | WAS | c.1444C>T (p.His482Tyr) n.153C>T c.1288C>T (p.His430Tyr) | gnomAD v4 |
| X | g.48689426A>C | CA412874010 | WAS | c.1445A>C (p.His482Pro) n.154A>C c.1289A>C (p.His430Pro) | |
| X | g.48689426A>G | CA412874011 | WAS | c.1445A>G (p.His482Arg) n.154A>G c.1289A>G (p.His430Arg) | |
| X | g.48689426A>T | CA412874009 | WAS | c.1445A>T (p.His482Leu) n.154A>T c.1289A>T (p.His430Leu) | |
| X | g.48689427C>A | CA412874012 | WAS | c.1446C>A (p.His482Gln) n.155C>A c.1290C>A (p.His430Gln) | |
| X | g.48689427C>G | CA412874013 | WAS | c.1446C>G (p.His482Gln) n.155C>G c.1290C>G (p.His430Gln) | |
| X | g.48689427C>T | CA516024014 | WAS | c.1446C>T (p.His482=) n.155C>T c.1290C>T (p.His430=) | |
| X | g.48689428T>A | CA412874014 | WAS | c.1447T>A (p.Ser483Thr) n.156T>A c.1291T>A (p.Ser431Thr) | |
| X | g.48689428T>C | CA412874015 | WAS | c.1447T>C (p.Ser483Pro) n.156T>C c.1291T>C (p.Ser431Pro) | gnomAD v4 |
| X | g.48689428T>G | CA412874016 | WAS | c.1447T>G (p.Ser483Ala) n.156T>G c.1291T>G (p.Ser431Ala) | |
| X | g.48689428dup | CA2695233816 | WAS | c.1447dup (p.Ser483PhefsTer12) c.1447dup (p.Ser483PhefsTer?) n.156dup c.1291dup (p.Ser431PhefsTer12) | |
| X | g.48689429C>A | CA412874019 | WAS | c.1448C>A (p.Ser483Tyr) n.157C>A c.1292C>A (p.Ser431Tyr) | |
| X | g.48689429C>G | CA412874018 | WAS | c.1448C>G (p.Ser483Cys) n.157C>G c.1292C>G (p.Ser431Cys) | |
| X | g.48689429C>T | CA412874017 | WAS | c.1448C>T (p.Ser483Phe) n.157C>T c.1292C>T (p.Ser431Phe) | |
| X | g.48689430del | CA2695233817 | WAS | c.1449del (p.Ser484ProfsTer?) n.158del c.1293del (p.Ser432ProfsTer?) | |
| X | g.48689430C>A | CA516024017 | WAS | c.1449C>A (p.Ser483=) n.158C>A c.1293C>A (p.Ser431=) | gnomAD v4 |
| X | g.48689430C>G | CA516024018 | WAS | c.1449C>G (p.Ser483=) n.158C>G c.1293C>G (p.Ser431=) | |
| X | g.48689430C>T | CA516024019 | WAS | c.1449C>T (p.Ser483=) n.158C>T c.1293C>T (p.Ser431=) | |
| X | g.48689431T>A | CA412874020 | WAS | c.1450T>A (p.Ser484Thr) n.159T>A c.1294T>A (p.Ser432Thr) | |
| X | g.48689431T>C | CA412874021 | WAS | c.1450T>C (p.Ser484Pro) n.159T>C c.1294T>C (p.Ser432Pro) | |
| X | g.48689431T>G | CA412874022 | WAS | c.1450T>G (p.Ser484Ala) n.159T>G c.1294T>G (p.Ser432Ala) | |
| X | g.48689432C>A | CA412874023 | WAS | c.1451C>A (p.Ser484Tyr) n.160C>A c.1295C>A (p.Ser432Tyr) | |
| X | g.48689432C>G | CA412874024 | WAS | c.1451C>G (p.Ser484Cys) n.160C>G c.1295C>G (p.Ser432Cys) | |
| X | g.48689432C>T | CA412874025 | WAS | c.1451C>T (p.Ser484Phe) n.160C>T c.1295C>T (p.Ser432Phe) | |
| X | g.48689433C>A | CA516024023 | WAS | c.1452C>A (p.Ser484=) n.161C>A c.1296C>A (p.Ser432=) | |
| X | g.48689433C= | CA2428355946 | WAS | c.1452C= (p.Ser484=) n.161C= c.1296C= (p.Ser432=) | |
| X | g.48689433C>G | CA516024026 | WAS | c.1452C>G (p.Ser484=) n.161C>G c.1296C>G (p.Ser432=) | |
| X | g.48689433C>T | CA516024024 | WAS | c.1452C>T (p.Ser484=) n.161C>T c.1296C>T (p.Ser432=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |