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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.68647061_68647130del | CA2942337 | UGT2B15 | c.1567_*43del (n.[c.1567_*43del;Lys523LeufsTer18]) c.1567_1636del (n.[c.1567_1636del;Lys523LeufsTer18]) | ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647100_68647108dup | CA1465820983 | UGT2B15 | c.1591_*6dup (n.1591_*6dup) c.1591_1599dup (n.1591_1599dup) | dbSNP |
| 4 | g.68647106A= | CA1465820990 | UGT2B15 | c.1591T= (p.Ter531=) | |
| 4 | g.68647106A>C | CA2942347 | UGT2B15 | c.1591T>G (p.Ter531Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647106A>G | CA357082891 | UGT2B15 | c.1591T>C (p.Ter531Gln) | |
| 4 | g.68647106A>T | CA357082892 | UGT2B15 | c.1591T>A (p.Ter531Lys) | |
| 4 | g.68647107A= | CA1465820991 | UGT2B15 | c.1590T= (p.Asp530=) | |
| 4 | g.68647107A>C | CA357082893 | UGT2B15 | c.1590T>G (p.Asp530Glu) | |
| 4 | g.68647107A>G | CA439934664 | UGT2B15 | c.1590T>C (p.Asp530=) | |
| 4 | g.68647107A>T | CA2942348 | UGT2B15 | c.1590T>A (p.Asp530Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647108T>A | CA2942349 | UGT2B15 | c.1589A>T (p.Asp530Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647108T>C | CA357082895 | UGT2B15 | c.1589A>G (p.Asp530Gly) | |
| 4 | g.68647108T>G | CA357082894 | UGT2B15 | c.1589A>C (p.Asp530Ala) | |
| 4 | g.68647108T= | CA1465820992 | UGT2B15 | c.1589A= (p.Asp530=) | |
| 4 | g.68647109C>A | CA357082896 | UGT2B15 | c.1588G>T (p.Asp530Tyr) | dbSNP gnomAD v4 |
| 4 | g.68647109C= | CA1465820993 | UGT2B15 | c.1588G= (p.Asp530=) | |
| 4 | g.68647109C>G | CA357082897 | UGT2B15 | c.1588G>C (p.Asp530His) | |
| 4 | g.68647109C>T | CA357082898 | UGT2B15 | c.1588G>A (p.Asp530Asn) | gnomAD v4 |
| 4 | g.68647110T>A | CA357082899 | UGT2B15 | c.1587A>T (p.Arg529Ser) | |
| 4 | g.68647110T>C | CA2942350 | UGT2B15 | c.1587A>G (p.Arg529=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647110T>G | CA357082900 | UGT2B15 | c.1587A>C (p.Arg529Ser) | |
| 4 | g.68647110T= | CA1465820994 | UGT2B15 | c.1587A= (p.Arg529=) | |
| 4 | g.68647111C>A | CA357082901 | UGT2B15 | c.1586G>T (p.Arg529Ile) | |
| 4 | g.68647111C= | CA1465820995 | UGT2B15 | c.1586G= (p.Arg529=) | |
| 4 | g.68647111C>G | CA357082903 | UGT2B15 | c.1586G>C (p.Arg529Thr) | dbSNP |
| 4 | g.68647111C>T | CA357082902 | UGT2B15 | c.1586G>A (p.Arg529Lys) | |
| 4 | g.68647112T>A | CA357082904 | UGT2B15 | c.1585A>T (p.Arg529Ter) | |
| 4 | g.68647112T>C | CA357082905 | UGT2B15 | c.1585A>G (p.Arg529Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647112T>G | CA2942351 | UGT2B15 | c.1585A>C (p.Arg529=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647112T= | CA1465820996 | UGT2B15 | c.1585A= (p.Arg529=) | |
| 4 | g.68647113T>A | CA357082906 | UGT2B15 | c.1584A>T (p.Lys528Asn) | |
| 4 | g.68647113T>C | CA2942353 | UGT2B15 | c.1584A>G (p.Lys528=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647113T>G | CA357082907 | UGT2B15 | c.1584A>C (p.Lys528Asn) | |
| 4 | g.68647113T= | CA1465820997 | UGT2B15 | c.1584A= (p.Lys528=) | |
| 4 | g.68647113_68647116delinsTTTC | CA1465820998 | UGT2B15 | c.1581_1584delinsGAAA (p.Lys527=) | |
| 4 | g.68647114T>A | CA357082908 | UGT2B15 | c.1583A>T (p.Lys528Ile) | |
| 4 | g.68647114T>C | CA357082909 | UGT2B15 | c.1583A>G (p.Lys528Arg) | |
| 4 | g.68647114T>G | CA357082910 | UGT2B15 | c.1583A>C (p.Lys528Thr) | |
| 4 | g.68647122_68647124del | CA2942352 | UGT2B15 | c.1581_1583del (p.Lys528del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647115T>A | CA357082911 | UGT2B15 | c.1582A>T (p.Lys528Ter) | |
| 4 | g.68647115T>C | CA357082913 | UGT2B15 | c.1582A>G (p.Lys528Glu) | |
| 4 | g.68647115T>G | CA357082912 | UGT2B15 | c.1582A>C (p.Lys528Gln) | |
| 4 | g.68647116C>A | CA357082914 | UGT2B15 | c.1581G>T (p.Lys527Asn) | |
| 4 | g.68647116C>G | CA357082915 | UGT2B15 | c.1581G>C (p.Lys527Asn) | |
| 4 | g.68647116C>T | CA439934665 | UGT2B15 | c.1581G>A (p.Lys527=) | COSMIC |
| 4 | g.68647117T>A | CA357082916 | UGT2B15 | c.1580A>T (p.Lys527Met) | |
| 4 | g.68647117T>C | CA2942354 | UGT2B15 | c.1580A>G (p.Lys527Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647117T>G | CA357082917 | UGT2B15 | c.1580A>C (p.Lys527Thr) | |
| 4 | g.68647117T= | CA1465820999 | UGT2B15 | c.1580A= (p.Lys527=) | |
| 4 | g.68647118T>A | CA357082918 | UGT2B15 | c.1579A>T (p.Lys527Ter) | |
| 4 | g.68647118T>C | CA357082919 | UGT2B15 | c.1579A>G (p.Lys527Glu) | |
| 4 | g.68647118T>G | CA357082920 | UGT2B15 | c.1579A>C (p.Lys527Gln) | |
| 4 | g.68647119C>A | CA357082921 | UGT2B15 | c.1578G>T (p.Lys526Asn) | COSMIC |
| 4 | g.68647119C>G | CA357082922 | UGT2B15 | c.1578G>C (p.Lys526Asn) | gnomAD v4 |
| 4 | g.68647119C>T | CA439934666 | UGT2B15 | c.1578G>A (p.Lys526=) | |
| 4 | g.68647120T>A | CA357082923 | UGT2B15 | c.1577A>T (p.Lys526Met) | |
| 4 | g.68647120T>C | CA357082924 | UGT2B15 | c.1577A>G (p.Lys526Arg) | |
| 4 | g.68647120T>G | CA357082925 | UGT2B15 | c.1577A>C (p.Lys526Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647120T= | CA1465821000 | UGT2B15 | c.1577A= (p.Lys526=) | |
| 4 | g.68647121T>A | CA357082928 | UGT2B15 | c.1576A>T (p.Lys526Ter) | |
| 4 | g.68647121T>C | CA357082926 | UGT2B15 | c.1576A>G (p.Lys526Glu) | |
| 4 | g.68647121T>G | CA357082927 | UGT2B15 | c.1576A>C (p.Lys526Gln) | |
| 4 | g.68647122C>A | CA357082929 | UGT2B15 | c.1575G>T (p.Lys525Asn) | COSMIC |
| 4 | g.68647122C>G | CA357082930 | UGT2B15 | c.1575G>C (p.Lys525Asn) | |
| 4 | g.68647122C>T | CA439934667 | UGT2B15 | c.1575G>A (p.Lys525=) | gnomAD v4 |
| 4 | g.68647123T>A | CA357082931 | UGT2B15 | c.1574A>T (p.Lys525Met) | |
| 4 | g.68647123T>C | CA357082932 | UGT2B15 | c.1574A>G (p.Lys525Arg) | |
| 4 | g.68647123T>G | CA357082933 | UGT2B15 | c.1574A>C (p.Lys525Thr) | |
| 4 | g.68647124T>A | CA357082934 | UGT2B15 | c.1573A>T (p.Lys525Ter) | |
| 4 | g.68647124T>C | CA357082935 | UGT2B15 | c.1573A>G (p.Lys525Glu) | gnomAD v4 |
| 4 | g.68647124T>G | CA357082936 | UGT2B15 | c.1573A>C (p.Lys525Gln) | gnomAD v4 |
| 4 | g.68647125T>A | CA439934668 | UGT2B15 | c.1572A>T (p.Gly524=) | |
| 4 | g.68647125T>C | CA439934669 | UGT2B15 | c.1572A>G (p.Gly524=) | |
| 4 | g.68647125T>G | CA439934670 | UGT2B15 | c.1572A>C (p.Gly524=) | |
| 4 | g.68647126C>A | CA357082937 | UGT2B15 | c.1571G>T (p.Gly524Val) | |
| 4 | g.68647126C>G | CA357082938 | UGT2B15 | c.1571G>C (p.Gly524Ala) | |
| 4 | g.68647126C>T | CA357082939 | UGT2B15 | c.1571G>A (p.Gly524Glu) | COSMIC |
| 4 | g.68647127C>A | CA357082941 | UGT2B15 | c.1570G>T (p.Gly524Ter) | |
| 4 | g.68647127C>G | CA357082942 | UGT2B15 | c.1570G>C (p.Gly524Arg) | |
| 4 | g.68647127C>T | CA357082940 | UGT2B15 | c.1570G>A (p.Gly524Arg) | gnomAD v4 |
| 4 | g.68647128T>A | CA357082943 | UGT2B15 | c.1569A>T (p.Lys523Asn) | |
| 4 | g.68647128T>C | CA439934671 | UGT2B15 | c.1569A>G (p.Lys523=) | |
| 4 | g.68647128T>G | CA357082944 | UGT2B15 | c.1569A>C (p.Lys523Asn) | dbSNP gnomAD v4 |
| 4 | g.68647128T= | CA1465821001 | UGT2B15 | c.1569A= (p.Lys523=) | |
| 4 | g.68647128_68647129insGTT | CA2762060775 | UGT2B15 | c.1569_1570insACA (p.Lys523_Gly524insThr) | |
| 4 | g.68647133dup | CA2762060774 | UGT2B15 | c.1569dup (p.Gly524ArgfsTer14) | |
| 4 | g.68647129T>A | CA357082945 | UGT2B15 | c.1568A>T (p.Lys523Ile) | |
| 4 | g.68647129T>C | CA357082946 | UGT2B15 | c.1568A>G (p.Lys523Arg) | dbSNP gnomAD v4 |
| 4 | g.68647129T>G | CA2942355 | UGT2B15 | c.1568A>C (p.Lys523Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647129T= | CA1465821002 | UGT2B15 | c.1568A= (p.Lys523=) | |
| 4 | g.68647130T>A | CA357082947 | UGT2B15 | c.1567A>T (p.Lys523Ter) | |
| 4 | g.68647130T>C | CA98747900 | UGT2B15 | c.1567A>G (p.Lys523Glu) | dbSNP gnomAD v4 |
| 4 | g.68647130T>G | CA357082948 | UGT2B15 | c.1567A>C (p.Lys523Gln) | |
| 4 | g.68647130T= | CA1465821003 | UGT2B15 | c.1567A= (p.Lys523=) | |
| 4 | g.68647131T>A | CA357082949 | UGT2B15 | c.1566A>T (p.Lys522Asn) | |
| 4 | g.68647131T>C | CA439934672 | UGT2B15 | c.1566A>G (p.Lys522=) | COSMIC |
| 4 | g.68647131T>G | CA357082950 | UGT2B15 | c.1566A>C (p.Lys522Asn) | |
| 4 | g.68647132T>A | CA357082951 | UGT2B15 | c.1565A>T (p.Lys522Ile) | |
| 4 | g.68647132T>C | CA357082952 | UGT2B15 | c.1565A>G (p.Lys522Arg) | |
| 4 | g.68647132T>G | CA357082953 | UGT2B15 | c.1565A>C (p.Lys522Thr) | |
| 4 | g.68647133T>A | CA357082956 | UGT2B15 | c.1564A>T (p.Lys522Ter) | |
| 4 | g.68647133T>C | CA357082955 | UGT2B15 | c.1564A>G (p.Lys522Glu) | |
| 4 | g.68647133T>G | CA357082954 | UGT2B15 | c.1564A>C (p.Lys522Gln) | |
| 4 | g.68647133_68647140delinsTGGCAAGC | CA1465821004 | UGT2B15 | c.1557_1564delinsGCTTGCCA (p.Lys519=) | |
| 4 | g.68647134G>A | CA439934673 | UGT2B15 | c.1563C>T (p.Ala521=) | dbSNP |
| 4 | g.68647134G>C | CA439934675 | UGT2B15 | c.1563C>G (p.Ala521=) | |
| 4 | g.68647134G= | CA1465821005 | UGT2B15 | c.1563C= (p.Ala521=) | |
| 4 | g.68647134G>T | CA439934674 | UGT2B15 | c.1563C>A (p.Ala521=) | gnomAD v4 |
| 4 | g.68647134_68647136del | CA2762060776 | UGT2B15 | c.1561_1563del (p.Ala521del) | |
| 4 | g.68647134_68647140del | CA552612220 | UGT2B15 | c.1557_1563del (p.Leu520LysfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647135G>A | CA357082957 | UGT2B15 | c.1562C>T (p.Ala521Val) | gnomAD v4 |
| 4 | g.68647135G>C | CA357082958 | UGT2B15 | c.1562C>G (p.Ala521Gly) | |
| 4 | g.68647135G>T | CA357082959 | UGT2B15 | c.1562C>A (p.Ala521Asp) | gnomAD v4 |
| 4 | g.68647136C>A | CA357082960 | UGT2B15 | c.1561G>T (p.Ala521Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.68647136C= | CA1465821006 | UGT2B15 | c.1561G= (p.Ala521=) | |
| 4 | g.68647136C>G | CA357082961 | UGT2B15 | c.1561G>C (p.Ala521Pro) | |
| 4 | g.68647136C>T | CA357082962 | UGT2B15 | c.1561G>A (p.Ala521Thr) | gnomAD v4 |
| 4 | g.68647137A= | CA1465821007 | UGT2B15 | c.1560T= (p.Leu520=) | |
| 4 | g.68647137A>C | CA439934676 | UGT2B15 | c.1560T>G (p.Leu520=) | |
| 4 | g.68647137A>G | CA2942356 | UGT2B15 | c.1560T>C (p.Leu520=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647137A>T | CA439934677 | UGT2B15 | c.1560T>A (p.Leu520=) | |
| 4 | g.68647138A= | CA1465821008 | UGT2B15 | c.1559T= (p.Leu520=) | |
| 4 | g.68647138A>C | CA357082963 | UGT2B15 | c.1559T>G (p.Leu520Arg) | |
| 4 | g.68647138A>G | CA357082964 | UGT2B15 | c.1559T>C (p.Leu520Pro) | |
| 4 | g.68647138A>T | CA2942357 | UGT2B15 | c.1559T>A (p.Leu520His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647139G>A | CA357082965 | UGT2B15 | c.1558C>T (p.Leu520Phe) | gnomAD v4 |
| 4 | g.68647139G>C | CA357082966 | UGT2B15 | c.1558C>G (p.Leu520Val) | |
| 4 | g.68647139G>T | CA357082967 | UGT2B15 | c.1558C>A (p.Leu520Ile) | gnomAD v4 |
| 4 | g.68647140del | CA2670843754 | UGT2B15 | c.1557del (p.Lys519AsnfsTer23) | gnomAD v4 |
| 4 | g.68647140C>A | CA357082969 | UGT2B15 | c.1557G>T (p.Lys519Asn) | |
| 4 | g.68647140C= | CA1465821009 | UGT2B15 | c.1557G= (p.Lys519=) | |
| 4 | g.68647140C>G | CA357082968 | UGT2B15 | c.1557G>C (p.Lys519Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647140C>T | CA439934678 | UGT2B15 | c.1557G>A (p.Lys519=) | |
| 4 | g.68647141T>A | CA357082970 | UGT2B15 | c.1556A>T (p.Lys519Met) | |
| 4 | g.68647141T>C | CA357082972 | UGT2B15 | c.1556A>G (p.Lys519Arg) | dbSNP |
| 4 | g.68647141T>G | CA357082971 | UGT2B15 | c.1556A>C (p.Lys519Thr) | gnomAD v4 |
| 4 | g.68647141T= | CA1465821010 | UGT2B15 | c.1556A= (p.Lys519=) | |
| 4 | g.68647143_68647144insTTTTTTT | CA552612221 | UGT2B15 | c.1556_1557insAAAAAAA (p.Leu520LysfsTer20) | gnomAD v2 |
| 4 | g.68647142T>A | CA357082973 | UGT2B15 | c.1555A>T (p.Lys519Ter) | |
| 4 | g.68647142T>C | CA357082974 | UGT2B15 | c.1555A>G (p.Lys519Glu) | |
| 4 | g.68647142T>G | CA357082975 | UGT2B15 | c.1555A>C (p.Lys519Gln) | |
| 4 | g.68647143T>A | CA439934679 | UGT2B15 | c.1554A>T (p.Arg518=) | dbSNP gnomAD v2 |
| 4 | g.68647143T>C | CA439934680 | UGT2B15 | c.1554A>G (p.Arg518=) | |
| 4 | g.68647143T>G | CA439934681 | UGT2B15 | c.1554A>C (p.Arg518=) | |
| 4 | g.68647143T= | CA1465821011 | UGT2B15 | c.1554A= (p.Arg518=) | |
| 4 | g.68647144C>A | CA357082976 | UGT2B15 | c.1553G>T (p.Arg518Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.68647144C= | CA1465821012 | UGT2B15 | c.1553G= (p.Arg518=) | |
| 4 | g.68647144C>G | CA357082977 | UGT2B15 | c.1553G>C (p.Arg518Pro) | dbSNP |
| 4 | g.68647144C>T | CA2942358 | UGT2B15 | c.1553G>A (p.Arg518Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.68647145G>A | CA2942359 | UGT2B15 | c.1552C>T (p.Arg518Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647145G>C | CA357082978 | UGT2B15 | c.1552C>G (p.Arg518Gly) | |
| 4 | g.68647145G= | CA1465821013 | UGT2B15 | c.1552C= (p.Arg518=) | |
| 4 | g.68647145G>T | CA439934682 | UGT2B15 | c.1552C>A (p.Arg518=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647146G>A | CA439934683 | UGT2B15 | c.1551C>T (p.Phe517=) | |
| 4 | g.68647146G>C | CA357082979 | UGT2B15 | c.1551C>G (p.Phe517Leu) | |
| 4 | g.68647146G>T | CA357082980 | UGT2B15 | c.1551C>A (p.Phe517Leu) | |
| 4 | g.68647147A>C | CA357082981 | UGT2B15 | c.1550T>G (p.Phe517Cys) | |
| 4 | g.68647147A>G | CA357082982 | UGT2B15 | c.1550T>C (p.Phe517Ser) | |
| 4 | g.68647147A>T | CA357082983 | UGT2B15 | c.1550T>A (p.Phe517Tyr) | |
| 4 | g.68647148A>C | CA357082986 | UGT2B15 | c.1549T>G (p.Phe517Val) | |
| 4 | g.68647148A>G | CA357082985 | UGT2B15 | c.1549T>C (p.Phe517Leu) | |
| 4 | g.68647148A>T | CA357082984 | UGT2B15 | c.1549T>A (p.Phe517Ile) | gnomAD v4 |
| 4 | g.68647149A= | CA1465821014 | UGT2B15 | c.1548T= (p.Cys516=) | |
| 4 | g.68647149A>C | CA357082987 | UGT2B15 | c.1548T>G (p.Cys516Trp) | |
| 4 | g.68647149A>G | CA439934684 | UGT2B15 | c.1548T>C (p.Cys516=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647149A>T | CA357082988 | UGT2B15 | c.1548T>A (p.Cys516Ter) | |
| 4 | g.68647150C>A | CA357082989 | UGT2B15 | c.1547G>T (p.Cys516Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.68647150C= | CA1465821015 | UGT2B15 | c.1547G= (p.Cys516=) | |
| 4 | g.68647150C>G | CA357082990 | UGT2B15 | c.1547G>C (p.Cys516Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647150C>T | CA357082991 | UGT2B15 | c.1547G>A (p.Cys516Tyr) | dbSNP gnomAD v2 |
| 4 | g.68647151A>C | CA357082992 | UGT2B15 | c.1546T>G (p.Cys516Gly) | |
| 4 | g.68647151A>G | CA357082993 | UGT2B15 | c.1546T>C (p.Cys516Arg) | |
| 4 | g.68647151A>T | CA357082994 | UGT2B15 | c.1546T>A (p.Cys516Ser) | |
| 4 | g.68647154del | CA2670843755 | UGT2B15 | c.1546del (p.Cys516ValfsTer26) | gnomAD v4 |
| 4 | g.68647152A>C | CA357082995 | UGT2B15 | c.1545T>G (p.Phe515Leu) | |
| 4 | g.68647152A>G | CA439934685 | UGT2B15 | c.1545T>C (p.Phe515=) | |
| 4 | g.68647152A>T | CA357082996 | UGT2B15 | c.1545T>A (p.Phe515Leu) | |
| 4 | g.68647153A>C | CA357082997 | UGT2B15 | c.1544T>G (p.Phe515Cys) | |
| 4 | g.68647153A>G | CA357082998 | UGT2B15 | c.1544T>C (p.Phe515Ser) | |
| 4 | g.68647153A>T | CA357082999 | UGT2B15 | c.1544T>A (p.Phe515Tyr) | |
| 4 | g.68647154A= | CA1465821016 | UGT2B15 | c.1543T= (p.Phe515=) | |
| 4 | g.68647154A>C | CA357083001 | UGT2B15 | c.1543T>G (p.Phe515Val) | |
| 4 | g.68647154A>G | CA2942360 | UGT2B15 | c.1543T>C (p.Phe515Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647154A>T | CA357083000 | UGT2B15 | c.1543T>A (p.Phe515Ile) | |
| 4 | g.68647155C>A | CA439934688 | UGT2B15 | c.1542G>T (p.Leu514=) | |
| 4 | g.68647155C= | CA1465821017 | UGT2B15 | c.1542G= (p.Leu514=) | |
| 4 | g.68647155C>G | CA439934687 | UGT2B15 | c.1542G>C (p.Leu514=) | |
| 4 | g.68647155C>T | CA439934686 | UGT2B15 | c.1542G>A (p.Leu514=) | dbSNP gnomAD v4 |
| 4 | g.68647156A= | CA1465821018 | UGT2B15 | c.1541T= (p.Leu514=) | |
| 4 | g.68647156A>C | CA357083002 | UGT2B15 | c.1541T>G (p.Leu514Arg) | |
| 4 | g.68647156A>G | CA357083003 | UGT2B15 | c.1541T>C (p.Leu514Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647156A>T | CA357083004 | UGT2B15 | c.1541T>A (p.Leu514Gln) | |
| 4 | g.68647157G>A | CA439934689 | UGT2B15 | c.1540C>T (p.Leu514=) | |
| 4 | g.68647157G>C | CA2942361 | UGT2B15 | c.1540C>G (p.Leu514Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647157G= | CA1465821019 | UGT2B15 | c.1540C= (p.Leu514=) | |
| 4 | g.68647157G>T | CA357083005 | UGT2B15 | c.1540C>A (p.Leu514Met) | |
| 4 | g.68647158G>A | CA439934690 | UGT2B15 | c.1539C>T (p.Cys513=) | |
| 4 | g.68647158G>C | CA357083006 | UGT2B15 | c.1539C>G (p.Cys513Trp) | |
| 4 | g.68647158G>T | CA357083007 | UGT2B15 | c.1539C>A (p.Cys513Ter) | |
| 4 | g.68647159C>A | CA357083008 | UGT2B15 | c.1538G>T (p.Cys513Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647159C= | CA1465821020 | UGT2B15 | c.1538G= (p.Cys513=) | |
| 4 | g.68647159C>G | CA2942362 | UGT2B15 | c.1538G>C (p.Cys513Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647159C>T | CA357083009 | UGT2B15 | c.1538G>A (p.Cys513Tyr) | ClinVar gnomAD v4 |
| 4 | g.68647160A= | CA1465821021 | UGT2B15 | c.1537T= (p.Cys513=) | |
| 4 | g.68647160A>C | CA2942363 | UGT2B15 | c.1537T>G (p.Cys513Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647160A>G | CA357083010 | UGT2B15 | c.1537T>C (p.Cys513Arg) | dbSNP |
| 4 | g.68647160A>T | CA357083011 | UGT2B15 | c.1537T>A (p.Cys513Ser) | |
| 4 | g.68647161A>C | CA357083012 | UGT2B15 | c.1536T>G (p.Phe512Leu) | dbSNP |
| 4 | g.68647161A>G | CA439934691 | UGT2B15 | c.1536T>C (p.Phe512=) | |
| 4 | g.68647161A>T | CA357083013 | UGT2B15 | c.1536T>A (p.Phe512Leu) | |
| 4 | g.68647162A= | CA1465821022 | UGT2B15 | c.1535T= (p.Phe512=) | |
| 4 | g.68647162A>C | CA357083014 | UGT2B15 | c.1535T>G (p.Phe512Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647162A>G | CA357083015 | UGT2B15 | c.1535T>C (p.Phe512Ser) | |
| 4 | g.68647162A>T | CA357083016 | UGT2B15 | c.1535T>A (p.Phe512Tyr) | |
| 4 | g.68647163A= | CA1465821023 | UGT2B15 | c.1534T= (p.Phe512=) | |
| 4 | g.68647163A>C | CA357083017 | UGT2B15 | c.1534T>G (p.Phe512Val) | |
| 4 | g.68647163A>G | CA357083018 | UGT2B15 | c.1534T>C (p.Phe512Leu) | |
| 4 | g.68647163A>T | CA357083019 | UGT2B15 | c.1534T>A (p.Phe512Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647164T>A | CA357083020 | UGT2B15 | c.1533A>T (p.Lys511Asn) | COSMIC |
| 4 | g.68647164T>C | CA439934692 | UGT2B15 | c.1533A>G (p.Lys511=) | |
| 4 | g.68647164T>G | CA357083021 | UGT2B15 | c.1533A>C (p.Lys511Asn) | COSMIC |
| 4 | g.68647165T>A | CA357083022 | UGT2B15 | c.1532A>T (p.Lys511Ile) | |
| 4 | g.68647165T>C | CA357083023 | UGT2B15 | c.1532A>G (p.Lys511Arg) | |
| 4 | g.68647165T>G | CA357083024 | UGT2B15 | c.1532A>C (p.Lys511Thr) | |
| 4 | g.68647166T>A | CA357083027 | UGT2B15 | c.1531A>T (p.Lys511Ter) | |
| 4 | g.68647166T>C | CA357083026 | UGT2B15 | c.1531A>G (p.Lys511Glu) | gnomAD v4 |
| 4 | g.68647166T>G | CA357083025 | UGT2B15 | c.1531A>C (p.Lys511Gln) | |
| 4 | g.68647167T>A | CA439934693 | UGT2B15 | c.1530A>T (p.Thr510=) | |
| 4 | g.68647167T>C | CA439934695 | UGT2B15 | c.1530A>G (p.Thr510=) | |
| 4 | g.68647167T>G | CA439934694 | UGT2B15 | c.1530A>C (p.Thr510=) | |
| 4 | g.68647168G>A | CA357083028 | UGT2B15 | c.1529C>T (p.Thr510Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647168G>C | CA357083030 | UGT2B15 | c.1529C>G (p.Thr510Arg) | |
| 4 | g.68647168G= | CA1465821024 | UGT2B15 | c.1529C= (p.Thr510=) | |
| 4 | g.68647168G>T | CA357083029 | UGT2B15 | c.1529C>A (p.Thr510Lys) | |
| 4 | g.68647168_68647169delinsGT | CA1465821025 | UGT2B15 | c.1528_1529delinsAC (p.Thr510=) | |
| 4 | g.68647169del | CA1063752926 | UGT2B15 | c.1528del (p.Thr510GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.68647169T>A | CA357083031 | UGT2B15 | c.1528A>T (p.Thr510Ser) | |
| 4 | g.68647169T>C | CA357083032 | UGT2B15 | c.1528A>G (p.Thr510Ala) | gnomAD v4 |
| 4 | g.68647169T>G | CA357083033 | UGT2B15 | c.1528A>C (p.Thr510Pro) | |
| 4 | g.68647170G>A | CA439934696 | UGT2B15 | c.1527C>T (p.Ile509=) | |
| 4 | g.68647170G>C | CA2942364 | UGT2B15 | c.1527C>G (p.Ile509Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647170G= | CA1465821026 | UGT2B15 | c.1527C= (p.Ile509=) | |
| 4 | g.68647170G>T | CA439934697 | UGT2B15 | c.1527C>A (p.Ile509=) | |
| 4 | g.68647171del | CA2578102222 | UGT2B15 | c.1526del (p.Ile509ThrfsTer?) | |
| 4 | g.68647171A>C | CA357083034 | UGT2B15 | c.1526T>G (p.Ile509Ser) | |
| 4 | g.68647171A>G | CA357083035 | UGT2B15 | c.1526T>C (p.Ile509Thr) | |
| 4 | g.68647171A>T | CA357083036 | UGT2B15 | c.1526T>A (p.Ile509Asn) | |
| 4 | g.68647172T>A | CA357083037 | UGT2B15 | c.1525A>T (p.Ile509Phe) | |
| 4 | g.68647172T>C | CA357083038 | UGT2B15 | c.1525A>G (p.Ile509Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647172T>G | CA357083039 | UGT2B15 | c.1525A>C (p.Ile509Leu) | |
| 4 | g.68647172T= | CA1465821027 | UGT2B15 | c.1525A= (p.Ile509=) | |
| 4 | g.68647173G>A | CA439934698 | UGT2B15 | c.1524C>T (p.Ile508=) | dbSNP gnomAD v4 |
| 4 | g.68647173G>C | CA2942365 | UGT2B15 | c.1524C>G (p.Ile508Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.68647173G= | CA1465821028 | UGT2B15 | c.1524C= (p.Ile508=) | |
| 4 | g.68647173G>T | CA439934699 | UGT2B15 | c.1524C>A (p.Ile508=) | |
| 4 | g.68647174A>C | CA357083042 | UGT2B15 | c.1523T>G (p.Ile508Ser) | |
| 4 | g.68647174A>G | CA357083041 | UGT2B15 | c.1523T>C (p.Ile508Thr) | gnomAD v4 |
| 4 | g.68647174A>T | CA357083040 | UGT2B15 | c.1523T>A (p.Ile508Asn) | |
| 4 | g.68647175T>A | CA357083043 | UGT2B15 | c.1522A>T (p.Ile508Phe) | |
| 4 | g.68647175T>C | CA357083044 | UGT2B15 | c.1522A>G (p.Ile508Val) | |
| 4 | g.68647175T>G | CA357083045 | UGT2B15 | c.1522A>C (p.Ile508Leu) | |
| 4 | g.68647176A>C | CA357083046 | UGT2B15 | c.1521T>G (p.Phe507Leu) | |
| 4 | g.68647176A>G | CA439934700 | UGT2B15 | c.1521T>C (p.Phe507=) | |
| 4 | g.68647176A>T | CA357083047 | UGT2B15 | c.1521T>A (p.Phe507Leu) | |
| 4 | g.68647177A= | CA1465821029 | UGT2B15 | c.1520T= (p.Phe507=) | |
| 4 | g.68647177A>C | CA357083048 | UGT2B15 | c.1520T>G (p.Phe507Cys) | |
| 4 | g.68647177A>G | CA2942367 | UGT2B15 | c.1520T>C (p.Phe507Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.68647177A>T | CA2942366 | UGT2B15 | c.1520T>A (p.Phe507Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647178A= | CA1465821030 | UGT2B15 | c.1519T= (p.Phe507=) | |
| 4 | g.68647178A>C | CA357083049 | UGT2B15 | c.1519T>G (p.Phe507Val) | |
| 4 | g.68647178A>G | CA357083050 | UGT2B15 | c.1519T>C (p.Phe507Leu) | gnomAD v4 |
| 4 | g.68647178A>T | CA357083051 | UGT2B15 | c.1519T>A (p.Phe507Ile) | dbSNP |
| 4 | g.68647179T>A | CA439934701 | UGT2B15 | c.1518A>T (p.Ile506=) | |
| 4 | g.68647179T>C | CA357083052 | UGT2B15 | c.1518A>G (p.Ile506Met) | |
| 4 | g.68647179T>G | CA439934702 | UGT2B15 | c.1518A>C (p.Ile506=) | |
| 4 | g.68647180A>C | CA357083055 | UGT2B15 | c.1517T>G (p.Ile506Arg) | |
| 4 | g.68647180A>G | CA357083054 | UGT2B15 | c.1517T>C (p.Ile506Thr) | |
| 4 | g.68647180A>T | CA357083053 | UGT2B15 | c.1517T>A (p.Ile506Lys) | gnomAD v4 |
| 4 | g.68647181del | CA2670843756 | UGT2B15 | c.1516del (p.Ile506TyrfsTer?) | gnomAD v4 |
| 4 | g.68647181T>A | CA357083056 | UGT2B15 | c.1516A>T (p.Ile506Leu) | gnomAD v4 |
| 4 | g.68647181T>C | CA357083057 | UGT2B15 | c.1516A>G (p.Ile506Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.68647181T>G | CA357083058 | UGT2B15 | c.1516A>C (p.Ile506Leu) | |
| 4 | g.68647181T= | CA1465821031 | UGT2B15 | c.1516A= (p.Ile506=) | |
| 4 | g.68647182C>A | CA439934703 | UGT2B15 | c.1515G>T (p.Val505=) | gnomAD v4 |
| 4 | g.68647182C= | CA1465821032 | UGT2B15 | c.1515G= (p.Val505=) | |
| 4 | g.68647182C>G | CA439934704 | UGT2B15 | c.1515G>C (p.Val505=) | |
| 4 | g.68647182C>T | CA2942368 | UGT2B15 | c.1515G>A (p.Val505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647183A>C | CA357083059 | UGT2B15 | c.1514T>G (p.Val505Gly) | |
| 4 | g.68647183A>G | CA357083060 | UGT2B15 | c.1514T>C (p.Val505Ala) | gnomAD v4 |
| 4 | g.68647183A>T | CA357083061 | UGT2B15 | c.1514T>A (p.Val505Glu) | |
| 4 | g.68647184C>A | CA357083062 | UGT2B15 | c.1513G>T (p.Val505Leu) | |
| 4 | g.68647184C= | CA1465821033 | UGT2B15 | c.1513G= (p.Val505=) | |
| 4 | g.68647184C>G | CA357083063 | UGT2B15 | c.1513G>C (p.Val505Leu) | |
| 4 | g.68647184C>T | CA98747953 | UGT2B15 | c.1513G>A (p.Val505Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647185A>C | CA439934705 | UGT2B15 | c.1512T>G (p.Thr504=) | |
| 4 | g.68647185A>G | CA439934706 | UGT2B15 | c.1512T>C (p.Thr504=) | |
| 4 | g.68647185A>T | CA439934707 | UGT2B15 | c.1512T>A (p.Thr504=) | |
| 4 | g.68647186G>A | CA357083064 | UGT2B15 | c.1511C>T (p.Thr504Ile) | |
| 4 | g.68647186G>C | CA357083065 | UGT2B15 | c.1511C>G (p.Thr504Ser) | |
| 4 | g.68647186G>T | CA357083066 | UGT2B15 | c.1511C>A (p.Thr504Asn) | |
| 4 | g.68647187T>A | CA357083068 | UGT2B15 | c.1510A>T (p.Thr504Ser) | |
| 4 | g.68647187T>C | CA98747958 | UGT2B15 | c.1510A>G (p.Thr504Ala) | dbSNP |
| 4 | g.68647187T>G | CA357083067 | UGT2B15 | c.1510A>C (p.Thr504Pro) | |
| 4 | g.68647187T= | CA1465821034 | UGT2B15 | c.1510A= (p.Thr504=) | |
| 4 | g.68647188T>A | CA439934708 | UGT2B15 | c.1509A>T (p.Ala503=) | |
| 4 | g.68647188T>C | CA439934709 | UGT2B15 | c.1509A>G (p.Ala503=) | |
| 4 | g.68647188T>G | CA439934710 | UGT2B15 | c.1509A>C (p.Ala503=) | |
| 4 | g.68647189G>A | CA357083069 | UGT2B15 | c.1508C>T (p.Ala503Val) | |
| 4 | g.68647189G>C | CA357083070 | UGT2B15 | c.1508C>G (p.Ala503Gly) | |
| 4 | g.68647189G>T | CA357083071 | UGT2B15 | c.1508C>A (p.Ala503Glu) | |
| 4 | g.68647190C>A | CA357083072 | UGT2B15 | c.1507G>T (p.Ala503Ser) | |
| 4 | g.68647190C= | CA1465821035 | UGT2B15 | c.1507G= (p.Ala503=) | |
| 4 | g.68647190C>G | CA357083073 | UGT2B15 | c.1507G>C (p.Ala503Pro) | |
| 4 | g.68647190C>T | CA2942369 | UGT2B15 | c.1507G>A (p.Ala503Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.68647191C>A | CA439934711 | UGT2B15 | c.1506G>T (p.Val502=) | |
| 4 | g.68647191C= | CA1465821036 | UGT2B15 | c.1506G= (p.Val502=) | |
| 4 | g.68647191C>G | CA439934712 | UGT2B15 | c.1506G>C (p.Val502=) | |
| 4 | g.68647191C>T | CA439934713 | UGT2B15 | c.1506G>A (p.Val502=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.68647192A>C | CA357083074 | UGT2B15 | c.1505T>G (p.Val502Gly) | |
| 4 | g.68647192A>G | CA357083075 | UGT2B15 | c.1505T>C (p.Val502Ala) | |
| 4 | g.68647192A>T | CA357083076 | UGT2B15 | c.1505T>A (p.Val502Glu) | |
| 4 | g.68647193C>A | CA357083077 | UGT2B15 | c.1504G>T (p.Val502Leu) | |
| 4 | g.68647193C= | CA1465821037 | UGT2B15 | c.1504G= (p.Val502=) | |
| 4 | g.68647193C>G | CA357083078 | UGT2B15 | c.1504G>C (p.Val502Leu) | gnomAD v4 |
| 4 | g.68647193C>T | CA2942370 | UGT2B15 | c.1504G>A (p.Val502Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647194G>A | CA2942372 | UGT2B15 | c.1503C>T (p.Cys501=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.68647194G>C | CA357083079 | UGT2B15 | c.1503C>G (p.Cys501Trp) | |
| 4 | g.68647194G= | CA1465821038 | UGT2B15 | c.1503C= (p.Cys501=) | |
| 4 | g.68647194G>T | CA2942371 | UGT2B15 | c.1503C>A (p.Cys501Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.68647195C>A | CA357083080 | UGT2B15 | c.1502G>T (p.Cys501Phe) | |
| 4 | g.68647195C= | CA1465821039 | UGT2B15 | c.1502G= (p.Cys501=) | |
| 4 | g.68647195C>G | CA357083082 | UGT2B15 | c.1502G>C (p.Cys501Ser) | dbSNP |
| 4 | g.68647195C>T | CA357083081 | UGT2B15 | c.1502G>A (p.Cys501Tyr) | |
| 4 | g.68647196A>C | CA357083083 | UGT2B15 | c.1501T>G (p.Cys501Gly) | |
| 4 | g.68647196A>G | CA357083085 | UGT2B15 | c.1501T>C (p.Cys501Arg) | gnomAD v4 |
| 4 | g.68647196A>T | CA357083084 | UGT2B15 | c.1501T>A (p.Cys501Ser) | |
| 4 | g.68647197G>A | CA439934716 | UGT2B15 | c.1500C>T (p.Ala500=) | dbSNP |
| 4 | g.68647197G>C | CA439934715 | UGT2B15 | c.1500C>G (p.Ala500=) | |
| 4 | g.68647197G= | CA1465821040 | UGT2B15 | c.1500C= (p.Ala500=) | |
| 4 | g.68647197G>T | CA439934714 | UGT2B15 | c.1500C>A (p.Ala500=) | |
| 4 | g.68647198G>A | CA2942373 | UGT2B15 | c.1499C>T (p.Ala500Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647198G>C | CA357083086 | UGT2B15 | c.1499C>G (p.Ala500Gly) | |
| 4 | g.68647198G= | CA1465821041 | UGT2B15 | c.1499C= (p.Ala500=) | |
| 4 | g.68647198G>T | CA2942374 | UGT2B15 | c.1499C>A (p.Ala500Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.68647199C>A | CA357083087 | UGT2B15 | c.1498G>T (p.Ala500Ser) | |
| 4 | g.68647199C= | CA1465821042 | UGT2B15 | c.1498G= (p.Ala500=) | |
| 4 | g.68647199C>G | CA357083088 | UGT2B15 | c.1498G>C (p.Ala500Pro) | dbSNP gnomAD v4 |
| 4 | g.68647199C>T | CA2942375 | UGT2B15 | c.1498G>A (p.Ala500Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.68647200C>A | CA439934717 | UGT2B15 | c.1497G>T (p.Leu499=) | |
| 4 | g.68647200C>G | CA439934718 | UGT2B15 | c.1497G>C (p.Leu499=) | |
| 4 | g.68647200C>T | CA439934719 | UGT2B15 | c.1497G>A (p.Leu499=) | gnomAD v4 |
| 4 | g.68647201A>C | CA357083089 | UGT2B15 | c.1496T>G (p.Leu499Arg) | |
| 4 | g.68647201A>G | CA357083090 | UGT2B15 | c.1496T>C (p.Leu499Pro) | gnomAD v4 |
| 4 | g.68647201A>T | CA357083091 | UGT2B15 | c.1496T>A (p.Leu499Gln) | |
| 4 | g.68647202G>A | CA439934720 | UGT2B15 | c.1495C>T (p.Leu499=) | gnomAD v4 |
| 4 | g.68647202G>C | CA357083092 | UGT2B15 | c.1495C>G (p.Leu499Val) | |
| 4 | g.68647202G>T | CA357083093 | UGT2B15 | c.1495C>A (p.Leu499Met) | gnomAD v4 |
| 4 | g.68647203C>A | CA439934721 | UGT2B15 | c.1494G>T (p.Leu498=) | gnomAD v4 |
| 4 | g.68647203C>G | CA439934723 | UGT2B15 | c.1494G>C (p.Leu498=) | gnomAD v4 |
| 4 | g.68647203C>T | CA439934722 | UGT2B15 | c.1494G>A (p.Leu498=) | |
| 4 | g.68647204A>C | CA357083094 | UGT2B15 | c.1493T>G (p.Leu498Arg) | |
| 4 | g.68647204A>G | CA357083095 | UGT2B15 | c.1493T>C (p.Leu498Pro) | |
| 4 | g.68647204A>T | CA357083096 | UGT2B15 | c.1493T>A (p.Leu498Gln) | |
| 4 | g.68647204_68647205delinsAG | CA1465821043 | UGT2B15 | c.1492_1493delinsCT (p.Leu498=) | |
| 4 | g.68647205G>A | CA439934724 | UGT2B15 | c.1492C>T (p.Leu498=) | gnomAD v4 |
| 4 | g.68647205G>C | CA357083098 | UGT2B15 | c.1492C>G (p.Leu498Val) | |
| 4 | g.68647205G>T | CA357083097 | UGT2B15 | c.1492C>A (p.Leu498Met) | gnomAD v4 |
| 4 | g.68647206del | CA797777947 | UGT2B15 | c.1492del (p.Leu498CysfsTer8) | dbSNP |
| 4 | g.68647206G>A | CA439934725 | UGT2B15 | c.1491C>T (p.Phe497=) | |
| 4 | g.68647206G>C | CA357083099 | UGT2B15 | c.1491C>G (p.Phe497Leu) | |
| 4 | g.68647206G= | CA1465821044 | UGT2B15 | c.1491C= (p.Phe497=) | |
| 4 | g.68647206G>T | CA2942376 | UGT2B15 | c.1491C>A (p.Phe497Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |