Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108681754_108681765del | CA2694442863 | COL4A5 | c.4088-6_4093del c.4070-6_4075del n.582-6_587del n.491-6_496del c.4079-6_4084del c.3764-6_3769del c.1661-6_1666del c.4103-6_4108del c.4094-6_4099del c.4085-6_4090del c.2423-6_2428del | gnomAD v4 |
X | g.108681764T>A | CA517923787 | COL4A5 | c.4092T>A (p.Pro1364=) c.4074T>A (p.Pro1358=) n.586T>A n.495T>A c.4083T>A (p.Pro1361=) c.3768T>A (p.Pro1256=) c.1665T>A (p.Pro555=) c.4107T>A (p.Pro1369=) c.4098T>A (p.Pro1366=) c.4089T>A (p.Pro1363=) c.2427T>A (p.Pro809=) | |
X | g.108681764T>C | CA517923788 | COL4A5 | c.4092T>C (p.Pro1364=) c.4074T>C (p.Pro1358=) n.586T>C n.495T>C c.4083T>C (p.Pro1361=) c.3768T>C (p.Pro1256=) c.1665T>C (p.Pro555=) c.4107T>C (p.Pro1369=) c.4098T>C (p.Pro1366=) c.4089T>C (p.Pro1363=) c.2427T>C (p.Pro809=) | |
X | g.108681764T>G | CA517923789 | COL4A5 | c.4092T>G (p.Pro1364=) c.4074T>G (p.Pro1358=) n.586T>G n.495T>G c.4083T>G (p.Pro1361=) c.3768T>G (p.Pro1256=) c.1665T>G (p.Pro555=) c.4107T>G (p.Pro1369=) c.4098T>G (p.Pro1366=) c.4089T>G (p.Pro1363=) c.2427T>G (p.Pro809=) | |
X | g.108681765C>A | CA413851878 | COL4A5 | c.4093C>A (p.Pro1365Thr) c.4075C>A (p.Pro1359Thr) n.587C>A n.496C>A c.4084C>A (p.Pro1362Thr) c.3769C>A (p.Pro1257Thr) c.1666C>A (p.Pro556Thr) c.4108C>A (p.Pro1370Thr) c.4099C>A (p.Pro1367Thr) c.4090C>A (p.Pro1364Thr) c.2428C>A (p.Pro810Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108681765C= | CA2450717217 | COL4A5 | c.4093C= (p.Pro1365=) c.4075C= (p.Pro1359=) n.587C= n.496C= c.4084C= (p.Pro1362=) c.3769C= (p.Pro1257=) c.1666C= (p.Pro556=) c.4108C= (p.Pro1370=) c.4099C= (p.Pro1367=) c.4090C= (p.Pro1364=) c.2428C= (p.Pro810=) | |
X | g.108681765C>G | CA413851876 | COL4A5 | c.4093C>G (p.Pro1365Ala) c.4075C>G (p.Pro1359Ala) n.587C>G n.496C>G c.4084C>G (p.Pro1362Ala) c.3769C>G (p.Pro1257Ala) c.1666C>G (p.Pro556Ala) c.4108C>G (p.Pro1370Ala) c.4099C>G (p.Pro1367Ala) c.4090C>G (p.Pro1364Ala) c.2428C>G (p.Pro810Ala) | gnomAD v4 |
X | g.108681765C>T | CA413851877 | COL4A5 | c.4093C>T (p.Pro1365Ser) c.4075C>T (p.Pro1359Ser) n.587C>T n.496C>T c.4084C>T (p.Pro1362Ser) c.3769C>T (p.Pro1257Ser) c.1666C>T (p.Pro556Ser) c.4108C>T (p.Pro1370Ser) c.4099C>T (p.Pro1367Ser) c.4090C>T (p.Pro1364Ser) c.2428C>T (p.Pro810Ser) | COSMIC COSMIC |
X | g.108681766C>A | CA413851881 | COL4A5 | c.4094C>A (p.Pro1365His) c.4076C>A (p.Pro1359His) n.588C>A n.497C>A c.4085C>A (p.Pro1362His) c.3770C>A (p.Pro1257His) c.1667C>A (p.Pro556His) c.4109C>A (p.Pro1370His) c.4100C>A (p.Pro1367His) c.4091C>A (p.Pro1364His) c.2429C>A (p.Pro810His) | |
X | g.108681766C>G | CA413851887 | COL4A5 | c.4094C>G (p.Pro1365Arg) c.4076C>G (p.Pro1359Arg) n.588C>G n.497C>G c.4085C>G (p.Pro1362Arg) c.3770C>G (p.Pro1257Arg) c.1667C>G (p.Pro556Arg) c.4109C>G (p.Pro1370Arg) c.4100C>G (p.Pro1367Arg) c.4091C>G (p.Pro1364Arg) c.2429C>G (p.Pro810Arg) | |
X | g.108681766C>T | CA413851889 | COL4A5 | c.4094C>T (p.Pro1365Leu) c.4076C>T (p.Pro1359Leu) n.588C>T n.497C>T c.4085C>T (p.Pro1362Leu) c.3770C>T (p.Pro1257Leu) c.1667C>T (p.Pro556Leu) c.4109C>T (p.Pro1370Leu) c.4100C>T (p.Pro1367Leu) c.4091C>T (p.Pro1364Leu) c.2429C>T (p.Pro810Leu) | ClinVar |
X | g.108681767T>A | CA517923790 | COL4A5 | c.4095T>A (p.Pro1365=) c.4077T>A (p.Pro1359=) n.589T>A n.498T>A c.4086T>A (p.Pro1362=) c.3771T>A (p.Pro1257=) c.1668T>A (p.Pro556=) c.4110T>A (p.Pro1370=) c.4101T>A (p.Pro1367=) c.4092T>A (p.Pro1364=) c.2430T>A (p.Pro810=) | |
X | g.108681767T>C | CA517923791 | COL4A5 | c.4095T>C (p.Pro1365=) c.4077T>C (p.Pro1359=) n.589T>C n.498T>C c.4086T>C (p.Pro1362=) c.3771T>C (p.Pro1257=) c.1668T>C (p.Pro556=) c.4110T>C (p.Pro1370=) c.4101T>C (p.Pro1367=) c.4092T>C (p.Pro1364=) c.2430T>C (p.Pro810=) | |
X | g.108681767T>G | CA517923792 | COL4A5 | c.4095T>G (p.Pro1365=) c.4077T>G (p.Pro1359=) n.589T>G n.498T>G c.4086T>G (p.Pro1362=) c.3771T>G (p.Pro1257=) c.1668T>G (p.Pro556=) c.4110T>G (p.Pro1370=) c.4101T>G (p.Pro1367=) c.4092T>G (p.Pro1364=) c.2430T>G (p.Pro810=) | |
X | g.108681768G>A | CA413851891 | COL4A5 | c.4096G>A (p.Gly1366Arg) c.4078G>A (p.Gly1360Arg) n.590G>A n.499G>A c.4087G>A (p.Gly1363Arg) c.3772G>A (p.Gly1258Arg) c.1669G>A (p.Gly557Arg) c.4111G>A (p.Gly1371Arg) c.4102G>A (p.Gly1368Arg) c.4093G>A (p.Gly1365Arg) c.2431G>A (p.Gly811Arg) | |
X | g.108681768G>C | CA413851893 | COL4A5 | c.4096G>C (p.Gly1366Arg) c.4078G>C (p.Gly1360Arg) n.590G>C n.499G>C c.4087G>C (p.Gly1363Arg) c.3772G>C (p.Gly1258Arg) c.1669G>C (p.Gly557Arg) c.4111G>C (p.Gly1371Arg) c.4102G>C (p.Gly1368Arg) c.4093G>C (p.Gly1365Arg) c.2431G>C (p.Gly811Arg) | |
X | g.108681768G>T | CA413851895 | COL4A5 | c.4096G>T (p.Gly1366Ter) c.4078G>T (p.Gly1360Ter) n.590G>T n.499G>T c.4087G>T (p.Gly1363Ter) c.3772G>T (p.Gly1258Ter) c.1669G>T (p.Gly557Ter) c.4111G>T (p.Gly1371Ter) c.4102G>T (p.Gly1368Ter) c.4093G>T (p.Gly1365Ter) c.2431G>T (p.Gly811Ter) | |
X | g.108681769G>A | CA413851896 | COL4A5 | c.4097G>A (p.Gly1366Glu) c.4079G>A (p.Gly1360Glu) n.591G>A n.500G>A c.4088G>A (p.Gly1363Glu) c.3773G>A (p.Gly1258Glu) c.1670G>A (p.Gly557Glu) c.4112G>A (p.Gly1371Glu) c.4103G>A (p.Gly1368Glu) c.4094G>A (p.Gly1365Glu) c.2432G>A (p.Gly811Glu) | gnomAD v4 |
X | g.108681769G>C | CA413851898 | COL4A5 | c.4097G>C (p.Gly1366Ala) c.4079G>C (p.Gly1360Ala) n.591G>C n.500G>C c.4088G>C (p.Gly1363Ala) c.3773G>C (p.Gly1258Ala) c.1670G>C (p.Gly557Ala) c.4112G>C (p.Gly1371Ala) c.4103G>C (p.Gly1368Ala) c.4094G>C (p.Gly1365Ala) c.2432G>C (p.Gly811Ala) | |
X | g.108681769G>T | CA413851900 | COL4A5 | c.4097G>T (p.Gly1366Val) c.4079G>T (p.Gly1360Val) n.591G>T n.500G>T c.4088G>T (p.Gly1363Val) c.3773G>T (p.Gly1258Val) c.1670G>T (p.Gly557Val) c.4112G>T (p.Gly1371Val) c.4103G>T (p.Gly1368Val) c.4094G>T (p.Gly1365Val) c.2432G>T (p.Gly811Val) | |
X | g.108681769_108681770delinsTC | CA2580100211 | COL4A5 | c.4097_4098delinsTC (p.Gly1366Val) c.4079_4080delinsTC (p.Gly1360Val) n.591_592delinsTC n.500_501delinsTC c.4088_4089delinsTC (p.Gly1363Val) c.3773_3774delinsTC (p.Gly1258Val) c.1670_1671delinsTC (p.Gly557Val) c.4112_4113delinsTC (p.Gly1371Val) c.4103_4104delinsTC (p.Gly1368Val) c.4094_4095delinsTC (p.Gly1365Val) c.2432_2433delinsTC (p.Gly811Val) | ClinVar |
X | g.108681770A= | CA2450717218 | COL4A5 | c.4098A= (p.Gly1366=) c.4080A= (p.Gly1360=) n.592A= n.501A= c.4089A= (p.Gly1363=) c.3774A= (p.Gly1258=) c.1671A= (p.Gly557=) c.4113A= (p.Gly1371=) c.4104A= (p.Gly1368=) c.4095A= (p.Gly1365=) c.2433A= (p.Gly811=) | |
X | g.108681770A>C | CA517923793 | COL4A5 | c.4098A>C (p.Gly1366=) c.4080A>C (p.Gly1360=) n.592A>C n.501A>C c.4089A>C (p.Gly1363=) c.3774A>C (p.Gly1258=) c.1671A>C (p.Gly557=) c.4113A>C (p.Gly1371=) c.4104A>C (p.Gly1368=) c.4095A>C (p.Gly1365=) c.2433A>C (p.Gly811=) | |
X | g.108681770A>G | CA517923794 | COL4A5 | c.4098A>G (p.Gly1366=) c.4080A>G (p.Gly1360=) n.592A>G n.501A>G c.4089A>G (p.Gly1363=) c.3774A>G (p.Gly1258=) c.1671A>G (p.Gly557=) c.4113A>G (p.Gly1371=) c.4104A>G (p.Gly1368=) c.4095A>G (p.Gly1365=) c.2433A>G (p.Gly811=) | dbSNP |
X | g.108681770A>T | CA517923795 | COL4A5 | c.4098A>T (p.Gly1366=) c.4080A>T (p.Gly1360=) n.592A>T n.501A>T c.4089A>T (p.Gly1363=) c.3774A>T (p.Gly1258=) c.1671A>T (p.Gly557=) c.4113A>T (p.Gly1371=) c.4104A>T (p.Gly1368=) c.4095A>T (p.Gly1365=) c.2433A>T (p.Gly811=) | |
X | g.108681771T>A | CA413851902 | COL4A5 | c.4099T>A (p.Leu1367Ile) c.4081T>A (p.Leu1361Ile) n.593T>A n.502T>A c.4090T>A (p.Leu1364Ile) c.3775T>A (p.Leu1259Ile) c.1672T>A (p.Leu558Ile) c.4114T>A (p.Leu1372Ile) c.4105T>A (p.Leu1369Ile) c.4096T>A (p.Leu1366Ile) c.2434T>A (p.Leu812Ile) | |
X | g.108681771T>C | CA517923796 | COL4A5 | c.4099T>C (p.Leu1367=) c.4081T>C (p.Leu1361=) n.593T>C n.502T>C c.4090T>C (p.Leu1364=) c.3775T>C (p.Leu1259=) c.1672T>C (p.Leu558=) c.4114T>C (p.Leu1372=) c.4105T>C (p.Leu1369=) c.4096T>C (p.Leu1366=) c.2434T>C (p.Leu812=) | |
X | g.108681771T>G | CA413851904 | COL4A5 | c.4099T>G (p.Leu1367Val) c.4081T>G (p.Leu1361Val) n.593T>G n.502T>G c.4090T>G (p.Leu1364Val) c.3775T>G (p.Leu1259Val) c.1672T>G (p.Leu558Val) c.4114T>G (p.Leu1372Val) c.4105T>G (p.Leu1369Val) c.4096T>G (p.Leu1366Val) c.2434T>G (p.Leu812Val) | |
X | g.108681772T>A | CA413851909 | COL4A5 | c.4100T>A (p.Leu1367Ter) c.4082T>A (p.Leu1361Ter) n.594T>A n.503T>A c.4091T>A (p.Leu1364Ter) c.3776T>A (p.Leu1259Ter) c.1673T>A (p.Leu558Ter) c.4115T>A (p.Leu1372Ter) c.4106T>A (p.Leu1369Ter) c.4097T>A (p.Leu1366Ter) c.2435T>A (p.Leu812Ter) | |
X | g.108681772T>C | CA413851906 | COL4A5 | c.4100T>C (p.Leu1367Ser) c.4082T>C (p.Leu1361Ser) n.594T>C n.503T>C c.4091T>C (p.Leu1364Ser) c.3776T>C (p.Leu1259Ser) c.1673T>C (p.Leu558Ser) c.4115T>C (p.Leu1372Ser) c.4106T>C (p.Leu1369Ser) c.4097T>C (p.Leu1366Ser) c.2435T>C (p.Leu812Ser) | |
X | g.108681772T>G | CA413851908 | COL4A5 | c.4100T>G (p.Leu1367Ter) c.4082T>G (p.Leu1361Ter) n.594T>G n.503T>G c.4091T>G (p.Leu1364Ter) c.3776T>G (p.Leu1259Ter) c.1673T>G (p.Leu558Ter) c.4115T>G (p.Leu1372Ter) c.4106T>G (p.Leu1369Ter) c.4097T>G (p.Leu1366Ter) c.2435T>G (p.Leu812Ter) | |
X | g.108681773A= | CA2450717219 | COL4A5 | c.4101A= (p.Leu1367=) c.4083A= (p.Leu1361=) n.595A= n.504A= c.4092A= (p.Leu1364=) c.3777A= (p.Leu1259=) c.1674A= (p.Leu558=) c.4116A= (p.Leu1372=) c.4107A= (p.Leu1369=) c.4098A= (p.Leu1366=) c.2436A= (p.Leu812=) | |
X | g.108681773A>C | CA413851912 | COL4A5 | c.4101A>C (p.Leu1367Phe) c.4083A>C (p.Leu1361Phe) n.595A>C n.504A>C c.4092A>C (p.Leu1364Phe) c.3777A>C (p.Leu1259Phe) c.1674A>C (p.Leu558Phe) c.4116A>C (p.Leu1372Phe) c.4107A>C (p.Leu1369Phe) c.4098A>C (p.Leu1366Phe) c.2436A>C (p.Leu812Phe) | |
X | g.108681773A>G | CA517923797 | COL4A5 | c.4101A>G (p.Leu1367=) c.4083A>G (p.Leu1361=) n.595A>G n.504A>G c.4092A>G (p.Leu1364=) c.3777A>G (p.Leu1259=) c.1674A>G (p.Leu558=) c.4116A>G (p.Leu1372=) c.4107A>G (p.Leu1369=) c.4098A>G (p.Leu1366=) c.2436A>G (p.Leu812=) | dbSNP gnomAD v4 |
X | g.108681773A>T | CA413851914 | COL4A5 | c.4101A>T (p.Leu1367Phe) c.4083A>T (p.Leu1361Phe) n.595A>T n.504A>T c.4092A>T (p.Leu1364Phe) c.3777A>T (p.Leu1259Phe) c.1674A>T (p.Leu558Phe) c.4116A>T (p.Leu1372Phe) c.4107A>T (p.Leu1369Phe) c.4098A>T (p.Leu1366Phe) c.2436A>T (p.Leu812Phe) | |
X | g.108681774C>A | CA413851917 | COL4A5 | c.4102C>A (p.Pro1368Thr) c.4084C>A (p.Pro1362Thr) n.596C>A n.505C>A c.4093C>A (p.Pro1365Thr) c.3778C>A (p.Pro1260Thr) c.1675C>A (p.Pro559Thr) c.4117C>A (p.Pro1373Thr) c.4108C>A (p.Pro1370Thr) c.4099C>A (p.Pro1367Thr) c.2437C>A (p.Pro813Thr) | |
X | g.108681774C>G | CA413851919 | COL4A5 | c.4102C>G (p.Pro1368Ala) c.4084C>G (p.Pro1362Ala) n.596C>G n.505C>G c.4093C>G (p.Pro1365Ala) c.3778C>G (p.Pro1260Ala) c.1675C>G (p.Pro559Ala) c.4117C>G (p.Pro1373Ala) c.4108C>G (p.Pro1370Ala) c.4099C>G (p.Pro1367Ala) c.2437C>G (p.Pro813Ala) | |
X | g.108681774C>T | CA413851921 | COL4A5 | c.4102C>T (p.Pro1368Ser) c.4084C>T (p.Pro1362Ser) n.596C>T n.505C>T c.4093C>T (p.Pro1365Ser) c.3778C>T (p.Pro1260Ser) c.1675C>T (p.Pro559Ser) c.4117C>T (p.Pro1373Ser) c.4108C>T (p.Pro1370Ser) c.4099C>T (p.Pro1367Ser) c.2437C>T (p.Pro813Ser) | |
X | g.108681774_108681775insT | CA2694442864 | COL4A5 | c.4102_4103insT (p.Pro1368LeufsTer11) c.4084_4085insT (p.Pro1362LeufsTer11) n.596_597insT n.505_506insT c.4093_4094insT (p.Pro1365LeufsTer11) c.3778_3779insT (p.Pro1260LeufsTer11) c.1675_1676insT (p.Pro559LeufsTer11) c.4117_4118insT (p.Pro1373LeufsTer11) c.4108_4109insT (p.Pro1370LeufsTer11) c.4099_4100insT (p.Pro1367LeufsTer11) c.2437_2438insT (p.Pro813LeufsTer11) | gnomAD v4 |
X | g.108681775C>A | CA413851922 | COL4A5 | c.4103C>A (p.Pro1368His) c.4085C>A (p.Pro1362His) n.597C>A n.506C>A c.4094C>A (p.Pro1365His) c.3779C>A (p.Pro1260His) c.1676C>A (p.Pro559His) c.4118C>A (p.Pro1373His) c.4109C>A (p.Pro1370His) c.4100C>A (p.Pro1367His) c.2438C>A (p.Pro813His) | |
X | g.108681775C>G | CA413851923 | COL4A5 | c.4103C>G (p.Pro1368Arg) c.4085C>G (p.Pro1362Arg) n.597C>G n.506C>G c.4094C>G (p.Pro1365Arg) c.3779C>G (p.Pro1260Arg) c.1676C>G (p.Pro559Arg) c.4118C>G (p.Pro1373Arg) c.4109C>G (p.Pro1370Arg) c.4100C>G (p.Pro1367Arg) c.2438C>G (p.Pro813Arg) | |
X | g.108681775C>T | CA413851924 | COL4A5 | c.4103C>T (p.Pro1368Leu) c.4085C>T (p.Pro1362Leu) n.597C>T n.506C>T c.4094C>T (p.Pro1365Leu) c.3779C>T (p.Pro1260Leu) c.1676C>T (p.Pro559Leu) c.4118C>T (p.Pro1373Leu) c.4109C>T (p.Pro1370Leu) c.4100C>T (p.Pro1367Leu) c.2438C>T (p.Pro813Leu) | |
X | g.108681776T>A | CA517923798 | COL4A5 | c.4104T>A (p.Pro1368=) c.4086T>A (p.Pro1362=) n.598T>A n.507T>A c.4095T>A (p.Pro1365=) c.3780T>A (p.Pro1260=) c.1677T>A (p.Pro559=) c.4119T>A (p.Pro1373=) c.4110T>A (p.Pro1370=) c.4101T>A (p.Pro1367=) c.2439T>A (p.Pro813=) | |
X | g.108681776T>C | CA517923800 | COL4A5 | c.4104T>C (p.Pro1368=) c.4086T>C (p.Pro1362=) n.598T>C n.507T>C c.4095T>C (p.Pro1365=) c.3780T>C (p.Pro1260=) c.1677T>C (p.Pro559=) c.4119T>C (p.Pro1373=) c.4110T>C (p.Pro1370=) c.4101T>C (p.Pro1367=) c.2439T>C (p.Pro813=) | |
X | g.108681776T>G | CA517923799 | COL4A5 | c.4104T>G (p.Pro1368=) c.4086T>G (p.Pro1362=) n.598T>G n.507T>G c.4095T>G (p.Pro1365=) c.3780T>G (p.Pro1260=) c.1677T>G (p.Pro559=) c.4119T>G (p.Pro1373=) c.4110T>G (p.Pro1370=) c.4101T>G (p.Pro1367=) c.2439T>G (p.Pro813=) | gnomAD v4 |
X | g.108681776_108681777delinsTG | CA2450717220 | COL4A5 | c.4104_4105delinsTG (p.Pro1368=) c.4086_4087delinsTG (p.Pro1362=) n.598_599delinsTG n.507_508delinsTG c.4095_4096delinsTG (p.Pro1365=) c.3780_3781delinsTG (p.Pro1260=) c.1677_1678delinsTG (p.Pro559=) c.4119_4120delinsTG (p.Pro1373=) c.4110_4111delinsTG (p.Pro1370=) c.4101_4102delinsTG (p.Pro1367=) c.2439_2440delinsTG (p.Pro813=) | |
X | g.108681777G>A | CA413851929 | COL4A5 | c.4105G>A (p.Gly1369Ser) c.4087G>A (p.Gly1363Ser) n.599G>A n.508G>A c.4096G>A (p.Gly1366Ser) c.3781G>A (p.Gly1261Ser) c.1678G>A (p.Gly560Ser) c.4120G>A (p.Gly1374Ser) c.4111G>A (p.Gly1371Ser) c.4102G>A (p.Gly1368Ser) c.2440G>A (p.Gly814Ser) | |
X | g.108681777G>C | CA413851927 | COL4A5 | c.4105G>C (p.Gly1369Arg) c.4087G>C (p.Gly1363Arg) n.599G>C n.508G>C c.4096G>C (p.Gly1366Arg) c.3781G>C (p.Gly1261Arg) c.1678G>C (p.Gly560Arg) c.4120G>C (p.Gly1374Arg) c.4111G>C (p.Gly1371Arg) c.4102G>C (p.Gly1368Arg) c.2440G>C (p.Gly814Arg) | |
X | g.108681777G>T | CA413851925 | COL4A5 | c.4105G>T (p.Gly1369Cys) c.4087G>T (p.Gly1363Cys) n.599G>T n.508G>T c.4096G>T (p.Gly1366Cys) c.3781G>T (p.Gly1261Cys) c.1678G>T (p.Gly560Cys) c.4120G>T (p.Gly1374Cys) c.4111G>T (p.Gly1371Cys) c.4102G>T (p.Gly1368Cys) c.2440G>T (p.Gly814Cys) | |
X | g.108681778del | CA891843686 | COL4A5 | c.4106del (p.Gly1369ValfsTer8) c.4088del (p.Gly1363ValfsTer8) n.600del n.509del c.4097del (p.Gly1366ValfsTer8) c.3782del (p.Gly1261ValfsTer8) c.1679del (p.Gly560ValfsTer8) c.4121del (p.Gly1374ValfsTer8) c.4112del (p.Gly1371ValfsTer8) c.4103del (p.Gly1368ValfsTer8) c.2441del (p.Gly814ValfsTer8) | ClinVar dbSNP gnomAD v4 |