Evidence Repository - SERVICE OUTAGE2026-04-17T09:00:00-0500 — 2026-04-22T17:00:00-0500
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165367231T>A | CA349025774 | SCN2A | c.3535T>A (p.Phe1179Ile) c.*1854T>A (n.*1854T>A) c.*1522T>A (n.*1522T>A) c.*4058T>A (n.*4058T>A) c.*1477T>A (n.*1477T>A) c.3139T>A (p.Phe1047Ile) n.3678T>A c.3505T>A (p.Phe1169Ile) c.2782T>A (p.Phe928Ile) c.1333T>A (p.Phe445Ile) | |
| 2 | g.165367231T>C | CA349025778 | SCN2A | c.3535T>C (p.Phe1179Leu) c.*1854T>C (n.*1854T>C) c.*1522T>C (n.*1522T>C) c.*4058T>C (n.*4058T>C) c.*1477T>C (n.*1477T>C) c.3139T>C (p.Phe1047Leu) n.3678T>C c.3505T>C (p.Phe1169Leu) c.2782T>C (p.Phe928Leu) c.1333T>C (p.Phe445Leu) | |
| 2 | g.165367231T>G | CA349025776 | SCN2A | c.3535T>G (p.Phe1179Val) c.*1854T>G (n.*1854T>G) c.*1522T>G (n.*1522T>G) c.*4058T>G (n.*4058T>G) c.*1477T>G (n.*1477T>G) c.3139T>G (p.Phe1047Val) n.3678T>G c.3505T>G (p.Phe1169Val) c.2782T>G (p.Phe928Val) c.1333T>G (p.Phe445Val) | |
| 2 | g.165367232T>A | CA349025780 | SCN2A | c.3536T>A (p.Phe1179Tyr) c.*1855T>A (n.*1855T>A) c.*1523T>A (n.*1523T>A) c.*4059T>A (n.*4059T>A) c.*1478T>A (n.*1478T>A) c.3140T>A (p.Phe1047Tyr) n.3679T>A c.3506T>A (p.Phe1169Tyr) c.2783T>A (p.Phe928Tyr) c.1334T>A (p.Phe445Tyr) | |
| 2 | g.165367232T>C | CA349025783 | SCN2A | c.3536T>C (p.Phe1179Ser) c.*1855T>C (n.*1855T>C) c.*1523T>C (n.*1523T>C) c.*4059T>C (n.*4059T>C) c.*1478T>C (n.*1478T>C) c.3140T>C (p.Phe1047Ser) n.3679T>C c.3506T>C (p.Phe1169Ser) c.2783T>C (p.Phe928Ser) c.1334T>C (p.Phe445Ser) | |
| 2 | g.165367232T>G | CA349025781 | SCN2A | c.3536T>G (p.Phe1179Cys) c.*1855T>G (n.*1855T>G) c.*1523T>G (n.*1523T>G) c.*4059T>G (n.*4059T>G) c.*1478T>G (n.*1478T>G) c.3140T>G (p.Phe1047Cys) n.3679T>G c.3506T>G (p.Phe1169Cys) c.2783T>G (p.Phe928Cys) c.1334T>G (p.Phe445Cys) | |
| 2 | g.165367233C>A | CA349025785 | SCN2A | c.3537C>A (p.Phe1179Leu) c.*1856C>A (n.*1856C>A) c.*1524C>A (n.*1524C>A) c.*4060C>A (n.*4060C>A) c.*1479C>A (n.*1479C>A) c.3141C>A (p.Phe1047Leu) n.3680C>A c.3507C>A (p.Phe1169Leu) c.2784C>A (p.Phe928Leu) c.1335C>A (p.Phe445Leu) | |
| 2 | g.165367233C= | CA3089312195 | SCN2A | c.3537C= (p.Phe1179=) c.*1856C= (n.*1856C=) c.*1524C= (n.*1524C=) c.*4060C= (n.*4060C=) c.*1479C= (n.*1479C=) c.3141C= (p.Phe1047=) n.3680C= c.3507C= (p.Phe1169=) c.2784C= (p.Phe928=) c.1335C= (p.Phe445=) | dbSNP |
| 2 | g.165367233C>G | CA349025786 | SCN2A | c.3537C>G (p.Phe1179Leu) c.*1856C>G (n.*1856C>G) c.*1524C>G (n.*1524C>G) c.*4060C>G (n.*4060C>G) c.*1479C>G (n.*1479C>G) c.3141C>G (p.Phe1047Leu) n.3680C>G c.3507C>G (p.Phe1169Leu) c.2784C>G (p.Phe928Leu) c.1335C>G (p.Phe445Leu) | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.165367233C>T | CA429886049 | SCN2A | c.3537C>T (p.Phe1179=) c.*1856C>T (n.*1856C>T) c.*1524C>T (n.*1524C>T) c.*4060C>T (n.*4060C>T) c.*1479C>T (n.*1479C>T) c.3141C>T (p.Phe1047=) n.3680C>T c.3507C>T (p.Phe1169=) c.2784C>T (p.Phe928=) c.1335C>T (p.Phe445=) | ClinVar |
| 2 | g.165367234A= | CA1304555286 | SCN2A | c.3538A= (p.Lys1180=) c.*1857A= (n.*1857A=) c.*1525A= (n.*1525A=) c.*4061A= (n.*4061A=) c.*1480A= (n.*1480A=) c.3142A= (p.Lys1048=) n.3681A= c.3508A= (p.Lys1170=) c.2785A= (p.Lys929=) c.1336A= (p.Lys446=) | dbSNP |
| 2 | g.165367234A>C | CA349025788 | SCN2A | c.3538A>C (p.Lys1180Gln) c.*1857A>C (n.*1857A>C) c.*1525A>C (n.*1525A>C) c.*4061A>C (n.*4061A>C) c.*1480A>C (n.*1480A>C) c.3142A>C (p.Lys1048Gln) n.3681A>C c.3508A>C (p.Lys1170Gln) c.2785A>C (p.Lys929Gln) c.1336A>C (p.Lys446Gln) | |
| 2 | g.165367234A>G | CA349025790 | SCN2A | c.3538A>G (p.Lys1180Glu) c.*1857A>G (n.*1857A>G) c.*1525A>G (n.*1525A>G) c.*4061A>G (n.*4061A>G) c.*1480A>G (n.*1480A>G) c.3142A>G (p.Lys1048Glu) n.3681A>G c.3508A>G (p.Lys1170Glu) c.2785A>G (p.Lys929Glu) c.1336A>G (p.Lys446Glu) | |
| 2 | g.165367234A>T | CA349025792 | SCN2A | c.3538A>T (p.Lys1180Ter) c.*1857A>T (n.*1857A>T) c.*1525A>T (n.*1525A>T) c.*4061A>T (n.*4061A>T) c.*1480A>T (n.*1480A>T) c.3142A>T (p.Lys1048Ter) n.3681A>T c.3508A>T (p.Lys1170Ter) c.2785A>T (p.Lys929Ter) c.1336A>T (p.Lys446Ter) | dbSNP |
| 2 | g.165367235A>C | CA349025793 | SCN2A | c.3539A>C (p.Lys1180Thr) c.*1858A>C (n.*1858A>C) c.*1526A>C (n.*1526A>C) c.*4062A>C (n.*4062A>C) c.*1481A>C (n.*1481A>C) c.3143A>C (p.Lys1048Thr) n.3682A>C c.3509A>C (p.Lys1170Thr) c.2786A>C (p.Lys929Thr) c.1337A>C (p.Lys446Thr) | |
| 2 | g.165367235A>G | CA349025795 | SCN2A | c.3539A>G (p.Lys1180Arg) c.*1858A>G (n.*1858A>G) c.*1526A>G (n.*1526A>G) c.*4062A>G (n.*4062A>G) c.*1481A>G (n.*1481A>G) c.3143A>G (p.Lys1048Arg) n.3682A>G c.3509A>G (p.Lys1170Arg) c.2786A>G (p.Lys929Arg) c.1337A>G (p.Lys446Arg) | |
| 2 | g.165367235A>T | CA349025797 | SCN2A | c.3539A>T (p.Lys1180Met) c.*1858A>T (n.*1858A>T) c.*1526A>T (n.*1526A>T) c.*4062A>T (n.*4062A>T) c.*1481A>T (n.*1481A>T) c.3143A>T (p.Lys1048Met) n.3682A>T c.3509A>T (p.Lys1170Met) c.2786A>T (p.Lys929Met) c.1337A>T (p.Lys446Met) | |
| 2 | g.165367236G>A | CA429886050 | SCN2A | c.3540G>A (p.Lys1180=) c.*1859G>A (n.*1859G>A) c.*1527G>A (n.*1527G>A) c.*4063G>A (n.*4063G>A) c.*1482G>A (n.*1482G>A) c.3144G>A (p.Lys1048=) n.3683G>A c.3510G>A (p.Lys1170=) c.2787G>A (p.Lys929=) c.1338G>A (p.Lys446=) | dbSNP gnomAD v4 |
| 2 | g.165367236G>C | CA349025798 | SCN2A | c.3540G>C (p.Lys1180Asn) c.*1859G>C (n.*1859G>C) c.*1527G>C (n.*1527G>C) c.*4063G>C (n.*4063G>C) c.*1482G>C (n.*1482G>C) c.3144G>C (p.Lys1048Asn) n.3683G>C c.3510G>C (p.Lys1170Asn) c.2787G>C (p.Lys929Asn) c.1338G>C (p.Lys446Asn) | |
| 2 | g.165367236G= | CA1304555288 | SCN2A | c.3540G= (p.Lys1180=) c.*1859G= (n.*1859G=) c.*1527G= (n.*1527G=) c.*4063G= (n.*4063G=) c.*1482G= (n.*1482G=) c.3144G= (p.Lys1048=) n.3683G= c.3510G= (p.Lys1170=) c.2787G= (p.Lys929=) c.1338G= (p.Lys446=) | dbSNP |
| 2 | g.165367236G>T | CA349025799 | SCN2A | c.3540G>T (p.Lys1180Asn) c.*1859G>T (n.*1859G>T) c.*1527G>T (n.*1527G>T) c.*4063G>T (n.*4063G>T) c.*1482G>T (n.*1482G>T) c.3144G>T (p.Lys1048Asn) n.3683G>T c.3510G>T (p.Lys1170Asn) c.2787G>T (p.Lys929Asn) c.1338G>T (p.Lys446Asn) | |
| 2 | g.165367236_165367239delinsGTGT | CA1304555287 | SCN2A | c.3540_3543delinsGTGT (p.Lys1180=) c.*1859_*1862delinsGTGT (n.*1859_*1862delinsGTGT) c.*1527_*1530delinsGTGT (n.*1527_*1530delinsGTGT) c.*4063_*4066delinsGTGT (n.*4063_*4066delinsGTGT) c.*1482_*1485delinsGTGT (n.*1482_*1485delinsGTGT) c.3144_3147delinsGTGT (p.Lys1048=) n.3683_3686delinsGTGT c.3510_3513delinsGTGT (p.Lys1170=) c.2787_2790delinsGTGT (p.Lys929=) c.1338_1341delinsGTGT (p.Lys446=) | |
| 2 | g.165367237T>A | CA349025801 | SCN2A | c.3541T>A (p.Cys1181Ser) c.*1860T>A (n.*1860T>A) c.*1528T>A (n.*1528T>A) c.*4064T>A (n.*4064T>A) c.*1483T>A (n.*1483T>A) c.3145T>A (p.Cys1049Ser) n.3684T>A c.3511T>A (p.Cys1171Ser) c.2788T>A (p.Cys930Ser) c.1339T>A (p.Cys447Ser) | |
| 2 | g.165367237T>C | CA349025803 | SCN2A | c.3541T>C (p.Cys1181Arg) c.*1860T>C (n.*1860T>C) c.*1528T>C (n.*1528T>C) c.*4064T>C (n.*4064T>C) c.*1483T>C (n.*1483T>C) c.3145T>C (p.Cys1049Arg) n.3684T>C c.3511T>C (p.Cys1171Arg) c.2788T>C (p.Cys930Arg) c.1339T>C (p.Cys447Arg) | dbSNP gnomAD v4 |
| 2 | g.165367237T>G | CA349025804 | SCN2A | c.3541T>G (p.Cys1181Gly) c.*1860T>G (n.*1860T>G) c.*1528T>G (n.*1528T>G) c.*4064T>G (n.*4064T>G) c.*1483T>G (n.*1483T>G) c.3145T>G (p.Cys1049Gly) n.3684T>G c.3511T>G (p.Cys1171Gly) c.2788T>G (p.Cys930Gly) c.1339T>G (p.Cys447Gly) | |
| 2 | g.165367237T= | CA3094591524 | SCN2A | c.3541T= (p.Cys1181=) c.*1860T= (n.*1860T=) c.*1528T= (n.*1528T=) c.*4064T= (n.*4064T=) c.*1483T= (n.*1483T=) c.3145T= (p.Cys1049=) n.3684T= c.3511T= (p.Cys1171=) c.2788T= (p.Cys930=) c.1339T= (p.Cys447=) | dbSNP |
| 2 | g.165367240_165367242del | CA760099459 | SCN2A | c.3544_3546del (p.Cys1182del) c.*1863_*1865del (n.*1863_*1865del) c.*1531_*1533del (n.*1531_*1533del) c.*4067_*4069del (n.*4067_*4069del) c.*1486_*1488del (n.*1486_*1488del) c.3148_3150del (p.Cys1050del) n.3687_3689del c.3514_3516del (p.Cys1172del) c.2791_2793del (p.Cys931del) c.1342_1344del (p.Cys448del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165367238G>A | CA349025806 | SCN2A | c.3542G>A (p.Cys1181Tyr) c.*1861G>A (n.*1861G>A) c.*1529G>A (n.*1529G>A) c.*4065G>A (n.*4065G>A) c.*1484G>A (n.*1484G>A) c.3146G>A (p.Cys1049Tyr) n.3685G>A c.3512G>A (p.Cys1171Tyr) c.2789G>A (p.Cys930Tyr) c.1340G>A (p.Cys447Tyr) | dbSNP |
| 2 | g.165367238G>C | CA349025808 | SCN2A | c.3542G>C (p.Cys1181Ser) c.*1861G>C (n.*1861G>C) c.*1529G>C (n.*1529G>C) c.*4065G>C (n.*4065G>C) c.*1484G>C (n.*1484G>C) c.3146G>C (p.Cys1049Ser) n.3685G>C c.3512G>C (p.Cys1171Ser) c.2789G>C (p.Cys930Ser) c.1340G>C (p.Cys447Ser) | |
| 2 | g.165367238G= | CA1304555289 | SCN2A | c.3542G= (p.Cys1181=) c.*1861G= (n.*1861G=) c.*1529G= (n.*1529G=) c.*4065G= (n.*4065G=) c.*1484G= (n.*1484G=) c.3146G= (p.Cys1049=) n.3685G= c.3512G= (p.Cys1171=) c.2789G= (p.Cys930=) c.1340G= (p.Cys447=) | dbSNP |
| 2 | g.165367238G>T | CA1940133 | SCN2A | c.3542G>T (p.Cys1181Phe) c.*1861G>T (n.*1861G>T) c.*1529G>T (n.*1529G>T) c.*4065G>T (n.*4065G>T) c.*1484G>T (n.*1484G>T) c.3146G>T (p.Cys1049Phe) n.3685G>T c.3512G>T (p.Cys1171Phe) c.2789G>T (p.Cys930Phe) c.1340G>T (p.Cys447Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165367239T>A | CA349025810 | SCN2A | c.3543T>A (p.Cys1181Ter) c.*1862T>A (n.*1862T>A) c.*1530T>A (n.*1530T>A) c.*4066T>A (n.*4066T>A) c.*1485T>A (n.*1485T>A) c.3147T>A (p.Cys1049Ter) n.3686T>A c.3513T>A (p.Cys1171Ter) c.2790T>A (p.Cys930Ter) c.1341T>A (p.Cys447Ter) | dbSNP |
| 2 | g.165367239T>C | CA429886051 | SCN2A | c.3543T>C (p.Cys1181=) c.*1862T>C (n.*1862T>C) c.*1530T>C (n.*1530T>C) c.*4066T>C (n.*4066T>C) c.*1485T>C (n.*1485T>C) c.3147T>C (p.Cys1049=) n.3686T>C c.3513T>C (p.Cys1171=) c.2790T>C (p.Cys930=) c.1341T>C (p.Cys447=) | |
| 2 | g.165367239T>G | CA349025811 | SCN2A | c.3543T>G (p.Cys1181Trp) c.*1862T>G (n.*1862T>G) c.*1530T>G (n.*1530T>G) c.*4066T>G (n.*4066T>G) c.*1485T>G (n.*1485T>G) c.3147T>G (p.Cys1049Trp) n.3686T>G c.3513T>G (p.Cys1171Trp) c.2790T>G (p.Cys930Trp) c.1341T>G (p.Cys447Trp) | |
| 2 | g.165367239T= | CA1304555290 | SCN2A | c.3543T= (p.Cys1181=) c.*1862T= (n.*1862T=) c.*1530T= (n.*1530T=) c.*4066T= (n.*4066T=) c.*1485T= (n.*1485T=) c.3147T= (p.Cys1049=) n.3686T= c.3513T= (p.Cys1171=) c.2790T= (p.Cys930=) c.1341T= (p.Cys447=) | dbSNP |
| 2 | g.165367240T>A | CA349025813 | SCN2A | c.3544T>A (p.Cys1182Ser) c.*1863T>A (n.*1863T>A) c.*1531T>A (n.*1531T>A) c.*4067T>A (n.*4067T>A) c.*1486T>A (n.*1486T>A) c.3148T>A (p.Cys1050Ser) n.3687T>A c.3514T>A (p.Cys1172Ser) c.2791T>A (p.Cys931Ser) c.1342T>A (p.Cys448Ser) | |
| 2 | g.165367240T>C | CA349025815 | SCN2A | c.3544T>C (p.Cys1182Arg) c.*1863T>C (n.*1863T>C) c.*1531T>C (n.*1531T>C) c.*4067T>C (n.*4067T>C) c.*1486T>C (n.*1486T>C) c.3148T>C (p.Cys1050Arg) n.3687T>C c.3514T>C (p.Cys1172Arg) c.2791T>C (p.Cys931Arg) c.1342T>C (p.Cys448Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165367240T>G | CA349025817 | SCN2A | c.3544T>G (p.Cys1182Gly) c.*1863T>G (n.*1863T>G) c.*1531T>G (n.*1531T>G) c.*4067T>G (n.*4067T>G) c.*1486T>G (n.*1486T>G) c.3148T>G (p.Cys1050Gly) n.3687T>G c.3514T>G (p.Cys1172Gly) c.2791T>G (p.Cys931Gly) c.1342T>G (p.Cys448Gly) | |
| 2 | g.165367240T= | CA3094591616 | SCN2A | c.3544T= (p.Cys1182=) c.*1863T= (n.*1863T=) c.*1531T= (n.*1531T=) c.*4067T= (n.*4067T=) c.*1486T= (n.*1486T=) c.3148T= (p.Cys1050=) n.3687T= c.3514T= (p.Cys1172=) c.2791T= (p.Cys931=) c.1342T= (p.Cys448=) | dbSNP |
| 2 | g.165367241G>A | CA349025819 | SCN2A | c.3545G>A (p.Cys1182Tyr) c.*1864G>A (n.*1864G>A) c.*1532G>A (n.*1532G>A) c.*4068G>A (n.*4068G>A) c.*1487G>A (n.*1487G>A) c.3149G>A (p.Cys1050Tyr) n.3688G>A c.3515G>A (p.Cys1172Tyr) c.2792G>A (p.Cys931Tyr) c.1343G>A (p.Cys448Tyr) | |
| 2 | g.165367241G>C | CA349025820 | SCN2A | c.3545G>C (p.Cys1182Ser) c.*1864G>C (n.*1864G>C) c.*1532G>C (n.*1532G>C) c.*4068G>C (n.*4068G>C) c.*1487G>C (n.*1487G>C) c.3149G>C (p.Cys1050Ser) n.3688G>C c.3515G>C (p.Cys1172Ser) c.2792G>C (p.Cys931Ser) c.1343G>C (p.Cys448Ser) | |
| 2 | g.165367241G= | CA3089312205 | SCN2A | c.3545G= (p.Cys1182=) c.*1864G= (n.*1864G=) c.*1532G= (n.*1532G=) c.*4068G= (n.*4068G=) c.*1487G= (n.*1487G=) c.3149G= (p.Cys1050=) n.3688G= c.3515G= (p.Cys1172=) c.2792G= (p.Cys931=) c.1343G= (p.Cys448=) | dbSNP |
| 2 | g.165367241G>T | CA349025822 | SCN2A | c.3545G>T (p.Cys1182Phe) c.*1864G>T (n.*1864G>T) c.*1532G>T (n.*1532G>T) c.*4068G>T (n.*4068G>T) c.*1487G>T (n.*1487G>T) c.3149G>T (p.Cys1050Phe) n.3688G>T c.3515G>T (p.Cys1172Phe) c.2792G>T (p.Cys931Phe) c.1343G>T (p.Cys448Phe) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165367242T>A | CA349025823 | SCN2A | c.3546T>A (p.Cys1182Ter) c.*1865T>A (n.*1865T>A) c.*1533T>A (n.*1533T>A) c.*4069T>A (n.*4069T>A) c.*1488T>A (n.*1488T>A) c.3150T>A (p.Cys1050Ter) n.3689T>A c.3516T>A (p.Cys1172Ter) c.2793T>A (p.Cys931Ter) c.1344T>A (p.Cys448Ter) | dbSNP |
| 2 | g.165367242T>C | CA429886052 | SCN2A | c.3546T>C (p.Cys1182=) c.*1865T>C (n.*1865T>C) c.*1533T>C (n.*1533T>C) c.*4069T>C (n.*4069T>C) c.*1488T>C (n.*1488T>C) c.3150T>C (p.Cys1050=) n.3689T>C c.3516T>C (p.Cys1172=) c.2793T>C (p.Cys931=) c.1344T>C (p.Cys448=) | |
| 2 | g.165367242T>G | CA349025825 | SCN2A | c.3546T>G (p.Cys1182Trp) c.*1865T>G (n.*1865T>G) c.*1533T>G (n.*1533T>G) c.*4069T>G (n.*4069T>G) c.*1488T>G (n.*1488T>G) c.3150T>G (p.Cys1050Trp) n.3689T>G c.3516T>G (p.Cys1172Trp) c.2793T>G (p.Cys931Trp) c.1344T>G (p.Cys448Trp) | |
| 2 | g.165367242T= | CA1304555291 | SCN2A | c.3546T= (p.Cys1182=) c.*1865T= (n.*1865T=) c.*1533T= (n.*1533T=) c.*4069T= (n.*4069T=) c.*1488T= (n.*1488T=) c.3150T= (p.Cys1050=) n.3689T= c.3516T= (p.Cys1172=) c.2793T= (p.Cys931=) c.1344T= (p.Cys448=) | dbSNP |
| 2 | g.165367243C>A | CA349025828 | SCN2A | c.3547C>A (p.Gln1183Lys) c.*1866C>A (n.*1866C>A) c.*1534C>A (n.*1534C>A) c.*4070C>A (n.*4070C>A) c.*1489C>A (n.*1489C>A) c.3151C>A (p.Gln1051Lys) n.3690C>A c.3517C>A (p.Gln1173Lys) c.2794C>A (p.Gln932Lys) c.1345C>A (p.Gln449Lys) | |
| 2 | g.165367243C= | CA1304555292 | SCN2A | c.3547C= (p.Gln1183=) c.*1866C= (n.*1866C=) c.*1534C= (n.*1534C=) c.*4070C= (n.*4070C=) c.*1489C= (n.*1489C=) c.3151C= (p.Gln1051=) n.3690C= c.3517C= (p.Gln1173=) c.2794C= (p.Gln932=) c.1345C= (p.Gln449=) | dbSNP |
| 2 | g.165367243C>G | CA1940134 | SCN2A | c.3547C>G (p.Gln1183Glu) c.*1866C>G (n.*1866C>G) c.*1534C>G (n.*1534C>G) c.*4070C>G (n.*4070C>G) c.*1489C>G (n.*1489C>G) c.3151C>G (p.Gln1051Glu) n.3690C>G c.3517C>G (p.Gln1173Glu) c.2794C>G (p.Gln932Glu) c.1345C>G (p.Gln449Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |