Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
X | g.108681778G>A | CA413851932 | COL4A5 | c.4106G>A (p.Gly1369Asp) c.4088G>A (p.Gly1363Asp) n.600G>A n.509G>A c.4097G>A (p.Gly1366Asp) c.3782G>A (p.Gly1261Asp) c.1679G>A (p.Gly560Asp) c.4121G>A (p.Gly1374Asp) c.4112G>A (p.Gly1371Asp) c.4103G>A (p.Gly1368Asp) c.2441G>A (p.Gly814Asp) | |
X | g.108681778G>C | CA413851933 | COL4A5 | c.4106G>C (p.Gly1369Ala) c.4088G>C (p.Gly1363Ala) n.600G>C n.509G>C c.4097G>C (p.Gly1366Ala) c.3782G>C (p.Gly1261Ala) c.1679G>C (p.Gly560Ala) c.4121G>C (p.Gly1374Ala) c.4112G>C (p.Gly1371Ala) c.4103G>C (p.Gly1368Ala) c.2441G>C (p.Gly814Ala) | |
X | g.108681778G>T | CA413851934 | COL4A5 | c.4106G>T (p.Gly1369Val) c.4088G>T (p.Gly1363Val) n.600G>T n.509G>T c.4097G>T (p.Gly1366Val) c.3782G>T (p.Gly1261Val) c.1679G>T (p.Gly560Val) c.4121G>T (p.Gly1374Val) c.4112G>T (p.Gly1371Val) c.4103G>T (p.Gly1368Val) c.2441G>T (p.Gly814Val) | |
X | g.108681779T>A | CA517923801 | COL4A5 | c.4107T>A (p.Gly1369=) c.4089T>A (p.Gly1363=) n.601T>A n.510T>A c.4098T>A (p.Gly1366=) c.3783T>A (p.Gly1261=) c.1680T>A (p.Gly560=) c.4122T>A (p.Gly1374=) c.4113T>A (p.Gly1371=) c.4104T>A (p.Gly1368=) c.2442T>A (p.Gly814=) | |
X | g.108681779T>C | CA517923802 | COL4A5 | c.4107T>C (p.Gly1369=) c.4089T>C (p.Gly1363=) n.601T>C n.510T>C c.4098T>C (p.Gly1366=) c.3783T>C (p.Gly1261=) c.1680T>C (p.Gly560=) c.4122T>C (p.Gly1374=) c.4113T>C (p.Gly1371=) c.4104T>C (p.Gly1368=) c.2442T>C (p.Gly814=) | |
X | g.108681779T>G | CA517923803 | COL4A5 | c.4107T>G (p.Gly1369=) c.4089T>G (p.Gly1363=) n.601T>G n.510T>G c.4098T>G (p.Gly1366=) c.3783T>G (p.Gly1261=) c.1680T>G (p.Gly560=) c.4122T>G (p.Gly1374=) c.4113T>G (p.Gly1371=) c.4104T>G (p.Gly1368=) c.2442T>G (p.Gly814=) | |
X | g.108681780C>A | CA413851937 | COL4A5 | c.4108C>A (p.Pro1370Thr) c.4090C>A (p.Pro1364Thr) n.602C>A n.511C>A c.4099C>A (p.Pro1367Thr) c.3784C>A (p.Pro1262Thr) c.1681C>A (p.Pro561Thr) c.4123C>A (p.Pro1375Thr) c.4114C>A (p.Pro1372Thr) c.4105C>A (p.Pro1369Thr) c.2443C>A (p.Pro815Thr) | gnomAD v4 |
X | g.108681780C>G | CA413851938 | COL4A5 | c.4108C>G (p.Pro1370Ala) c.4090C>G (p.Pro1364Ala) n.602C>G n.511C>G c.4099C>G (p.Pro1367Ala) c.3784C>G (p.Pro1262Ala) c.1681C>G (p.Pro561Ala) c.4123C>G (p.Pro1375Ala) c.4114C>G (p.Pro1372Ala) c.4105C>G (p.Pro1369Ala) c.2443C>G (p.Pro815Ala) | |
X | g.108681780C>T | CA413851939 | COL4A5 | c.4108C>T (p.Pro1370Ser) c.4090C>T (p.Pro1364Ser) n.602C>T n.511C>T c.4099C>T (p.Pro1367Ser) c.3784C>T (p.Pro1262Ser) c.1681C>T (p.Pro561Ser) c.4123C>T (p.Pro1375Ser) c.4114C>T (p.Pro1372Ser) c.4105C>T (p.Pro1369Ser) c.2443C>T (p.Pro815Ser) | |
X | g.108681781del | CA2580100212 | COL4A5 | c.4109del (p.Pro1370LeufsTer7) c.4091del (p.Pro1364LeufsTer7) n.603del n.512del c.4100del (p.Pro1367LeufsTer7) c.3785del (p.Pro1262LeufsTer7) c.1682del (p.Pro561LeufsTer7) c.4124del (p.Pro1375LeufsTer7) c.4115del (p.Pro1372LeufsTer7) c.4106del (p.Pro1369LeufsTer7) c.2444del (p.Pro815LeufsTer7) | ClinVar |
X | g.108681781C>A | CA413851944 | COL4A5 | c.4109C>A (p.Pro1370His) c.4091C>A (p.Pro1364His) n.603C>A n.512C>A c.4100C>A (p.Pro1367His) c.3785C>A (p.Pro1262His) c.1682C>A (p.Pro561His) c.4124C>A (p.Pro1375His) c.4115C>A (p.Pro1372His) c.4106C>A (p.Pro1369His) c.2444C>A (p.Pro815His) | |
X | g.108681781C= | CA2450717221 | COL4A5 | c.4109C= (p.Pro1370=) c.4091C= (p.Pro1364=) n.603C= n.512C= c.4100C= (p.Pro1367=) c.3785C= (p.Pro1262=) c.1682C= (p.Pro561=) c.4124C= (p.Pro1375=) c.4115C= (p.Pro1372=) c.4106C= (p.Pro1369=) c.2444C= (p.Pro815=) | |
X | g.108681781C>G | CA413851941 | COL4A5 | c.4109C>G (p.Pro1370Arg) c.4091C>G (p.Pro1364Arg) n.603C>G n.512C>G c.4100C>G (p.Pro1367Arg) c.3785C>G (p.Pro1262Arg) c.1682C>G (p.Pro561Arg) c.4124C>G (p.Pro1375Arg) c.4115C>G (p.Pro1372Arg) c.4106C>G (p.Pro1369Arg) c.2444C>G (p.Pro815Arg) | |
X | g.108681781C>T | CA10489293 | COL4A5 | c.4109C>T (p.Pro1370Leu) c.4091C>T (p.Pro1364Leu) n.603C>T n.512C>T c.4100C>T (p.Pro1367Leu) c.3785C>T (p.Pro1262Leu) c.1682C>T (p.Pro561Leu) c.4124C>T (p.Pro1375Leu) c.4115C>T (p.Pro1372Leu) c.4106C>T (p.Pro1369Leu) c.2444C>T (p.Pro815Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108681782T>A | CA517923804 | COL4A5 | c.4110T>A (p.Pro1370=) c.4092T>A (p.Pro1364=) n.604T>A n.513T>A c.4101T>A (p.Pro1367=) c.3786T>A (p.Pro1262=) c.1683T>A (p.Pro561=) c.4125T>A (p.Pro1375=) c.4116T>A (p.Pro1372=) c.4107T>A (p.Pro1369=) c.2445T>A (p.Pro815=) | |
X | g.108681782T>C | CA517923805 | COL4A5 | c.4110T>C (p.Pro1370=) c.4092T>C (p.Pro1364=) n.604T>C n.513T>C c.4101T>C (p.Pro1367=) c.3786T>C (p.Pro1262=) c.1683T>C (p.Pro561=) c.4125T>C (p.Pro1375=) c.4116T>C (p.Pro1372=) c.4107T>C (p.Pro1369=) c.2445T>C (p.Pro815=) | COSMIC COSMIC |
X | g.108681782T>G | CA517923806 | COL4A5 | c.4110T>G (p.Pro1370=) c.4092T>G (p.Pro1364=) n.604T>G n.513T>G c.4101T>G (p.Pro1367=) c.3786T>G (p.Pro1262=) c.1683T>G (p.Pro561=) c.4125T>G (p.Pro1375=) c.4116T>G (p.Pro1372=) c.4107T>G (p.Pro1369=) c.2445T>G (p.Pro815=) |