UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108694803_108694835delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG | CA2450721565 | COL4A5 | c.4707-4_4735delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4689-4_4717delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG n.1201-4_1229delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG n.1189_1221delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.105-4_133delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.325-1494_325-1462delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4698-4_4726delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4383-4_4411delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.2280-4_2308delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4722-4_4750delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4713-4_4741delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.4704-4_4732delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG c.3042-4_3070delinsCCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG | |
| X | g.108694804_108694835del | CA259091 | COL4A5 | c.4707-3_4735del c.4689-3_4717del n.1201-3_1229del n.1190_1221del c.105-3_133del c.325-1493_325-1462del c.4698-3_4726del c.4383-3_4411del c.2280-3_2308del c.4722-3_4750del c.4713-3_4741del c.4704-3_4732del c.3042-3_3070del | |
| X | g.108694809G>A | CA334062888 | COL4A5 | c.4709G>A (p.Cys1570Tyr) c.4691G>A (p.Cys1564Tyr) n.1203G>A n.1195G>A c.107G>A (p.Cys36Tyr) c.325-1488G>A c.4700G>A (p.Cys1567Tyr) c.4385G>A (p.Cys1462Tyr) c.2282G>A (p.Cys761Tyr) c.4724G>A (p.Cys1575Tyr) c.4715G>A (p.Cys1572Tyr) c.4706G>A (p.Cys1569Tyr) c.3044G>A (p.Cys1015Tyr) | dbSNP |
| X | g.108694809G>C | CA342587 | COL4A5 | c.4709G>C (p.Cys1570Ser) c.4691G>C (p.Cys1564Ser) n.1203G>C n.1195G>C c.107G>C (p.Cys36Ser) c.325-1488G>C c.4700G>C (p.Cys1567Ser) c.4385G>C (p.Cys1462Ser) c.2282G>C (p.Cys761Ser) c.4724G>C (p.Cys1575Ser) c.4715G>C (p.Cys1572Ser) c.4706G>C (p.Cys1569Ser) c.3044G>C (p.Cys1015Ser) | ClinVar dbSNP |
| X | g.108694809G= | CA2450721568 | COL4A5 | c.4709G= (p.Cys1570=) c.4691G= (p.Cys1564=) n.1203G= n.1195G= c.107G= (p.Cys36=) c.325-1488G= c.4700G= (p.Cys1567=) c.4385G= (p.Cys1462=) c.2282G= (p.Cys761=) c.4724G= (p.Cys1575=) c.4715G= (p.Cys1572=) c.4706G= (p.Cys1569=) c.3044G= (p.Cys1015=) | |
| X | g.108694809G>T | CA414132388 | COL4A5 | c.4709G>T (p.Cys1570Phe) c.4691G>T (p.Cys1564Phe) n.1203G>T n.1195G>T c.107G>T (p.Cys36Phe) c.325-1488G>T c.4700G>T (p.Cys1567Phe) c.4385G>T (p.Cys1462Phe) c.2282G>T (p.Cys761Phe) c.4724G>T (p.Cys1575Phe) c.4715G>T (p.Cys1572Phe) c.4706G>T (p.Cys1569Phe) c.3044G>T (p.Cys1015Phe) | ClinVar dbSNP |
| X | g.108694810T>A | CA414132389 | COL4A5 | c.4710T>A (p.Cys1570Ter) c.4692T>A (p.Cys1564Ter) n.1204T>A n.1196T>A c.108T>A (p.Cys36Ter) c.325-1487T>A c.4701T>A (p.Cys1567Ter) c.4386T>A (p.Cys1462Ter) c.2283T>A (p.Cys761Ter) c.4725T>A (p.Cys1575Ter) c.4716T>A (p.Cys1572Ter) c.4707T>A (p.Cys1569Ter) c.3045T>A (p.Cys1015Ter) | |
| X | g.108694810T>C | CA517925523 | COL4A5 | c.4710T>C (p.Cys1570=) c.4692T>C (p.Cys1564=) n.1204T>C n.1196T>C c.108T>C (p.Cys36=) c.325-1487T>C c.4701T>C (p.Cys1567=) c.4386T>C (p.Cys1462=) c.2283T>C (p.Cys761=) c.4725T>C (p.Cys1575=) c.4716T>C (p.Cys1572=) c.4707T>C (p.Cys1569=) c.3045T>C (p.Cys1015=) | |
| X | g.108694810T>G | CA414132390 | COL4A5 | c.4710T>G (p.Cys1570Trp) c.4692T>G (p.Cys1564Trp) n.1204T>G n.1196T>G c.108T>G (p.Cys36Trp) c.325-1487T>G c.4701T>G (p.Cys1567Trp) c.4386T>G (p.Cys1462Trp) c.2283T>G (p.Cys761Trp) c.4725T>G (p.Cys1575Trp) c.4716T>G (p.Cys1572Trp) c.4707T>G (p.Cys1569Trp) c.3045T>G (p.Cys1015Trp) | |
| X | g.108694811G>A | CA414132393 | COL4A5 | c.4711G>A (p.Ala1571Thr) c.4693G>A (p.Ala1565Thr) n.1205G>A n.1197G>A c.109G>A (p.Ala37Thr) c.325-1486G>A c.4702G>A (p.Ala1568Thr) c.4387G>A (p.Ala1463Thr) c.2284G>A (p.Ala762Thr) c.4726G>A (p.Ala1576Thr) c.4717G>A (p.Ala1573Thr) c.4708G>A (p.Ala1570Thr) c.3046G>A (p.Ala1016Thr) | |
| X | g.108694811G>C | CA414132391 | COL4A5 | c.4711G>C (p.Ala1571Pro) c.4693G>C (p.Ala1565Pro) n.1205G>C n.1197G>C c.109G>C (p.Ala37Pro) c.325-1486G>C c.4702G>C (p.Ala1568Pro) c.4387G>C (p.Ala1463Pro) c.2284G>C (p.Ala762Pro) c.4726G>C (p.Ala1576Pro) c.4717G>C (p.Ala1573Pro) c.4708G>C (p.Ala1570Pro) c.3046G>C (p.Ala1016Pro) | |
| X | g.108694811G>T | CA414132392 | COL4A5 | c.4711G>T (p.Ala1571Ser) c.4693G>T (p.Ala1565Ser) n.1205G>T n.1197G>T c.109G>T (p.Ala37Ser) c.325-1486G>T c.4702G>T (p.Ala1568Ser) c.4387G>T (p.Ala1463Ser) c.2284G>T (p.Ala762Ser) c.4726G>T (p.Ala1576Ser) c.4717G>T (p.Ala1573Ser) c.4708G>T (p.Ala1570Ser) c.3046G>T (p.Ala1016Ser) | |
| X | g.108694812C>A | CA414132394 | COL4A5 | c.4712C>A (p.Ala1571Glu) c.4694C>A (p.Ala1565Glu) n.1206C>A n.1198C>A c.110C>A (p.Ala37Glu) c.325-1485C>A c.4703C>A (p.Ala1568Glu) c.4388C>A (p.Ala1463Glu) c.2285C>A (p.Ala762Glu) c.4727C>A (p.Ala1576Glu) c.4718C>A (p.Ala1573Glu) c.4709C>A (p.Ala1570Glu) c.3047C>A (p.Ala1016Glu) | |
| X | g.108694812C>G | CA414132395 | COL4A5 | c.4712C>G (p.Ala1571Gly) c.4694C>G (p.Ala1565Gly) n.1206C>G n.1198C>G c.110C>G (p.Ala37Gly) c.325-1485C>G c.4703C>G (p.Ala1568Gly) c.4388C>G (p.Ala1463Gly) c.2285C>G (p.Ala762Gly) c.4727C>G (p.Ala1576Gly) c.4718C>G (p.Ala1573Gly) c.4709C>G (p.Ala1570Gly) c.3047C>G (p.Ala1016Gly) | |
| X | g.108694812C>T | CA414132396 | COL4A5 | c.4712C>T (p.Ala1571Val) c.4694C>T (p.Ala1565Val) n.1206C>T n.1198C>T c.110C>T (p.Ala37Val) c.325-1485C>T c.4703C>T (p.Ala1568Val) c.4388C>T (p.Ala1463Val) c.2285C>T (p.Ala762Val) c.4727C>T (p.Ala1576Val) c.4718C>T (p.Ala1573Val) c.4709C>T (p.Ala1570Val) c.3047C>T (p.Ala1016Val) | gnomAD v4 |
| X | g.108694812_108694813delinsCA | CA2450721569 | COL4A5 | c.4712_4713delinsCA (p.Ala1571=) c.4694_4695delinsCA (p.Ala1565=) n.1206_1207delinsCA n.1198_1199delinsCA c.110_111delinsCA (p.Ala37=) c.325-1485_325-1484delinsCA c.4703_4704delinsCA (p.Ala1568=) c.4388_4389delinsCA (p.Ala1463=) c.2285_2286delinsCA (p.Ala762=) c.4727_4728delinsCA (p.Ala1576=) c.4718_4719delinsCA (p.Ala1573=) c.4709_4710delinsCA (p.Ala1570=) c.3047_3048delinsCA (p.Ala1016=) | |
| X | g.108694813del | CA891843694 | COL4A5 | c.4713del (p.Val1572TyrfsTer8) c.4695del (p.Val1566TyrfsTer8) n.1207del n.1199del c.111del (p.Val38TyrfsTer8) c.325-1484del c.4704del (p.Val1569TyrfsTer8) c.4389del (p.Val1464TyrfsTer8) c.2286del (p.Val763TyrfsTer8) c.4728del (p.Val1577TyrfsTer8) c.4719del (p.Val1574TyrfsTer8) c.4710del (p.Val1571TyrfsTer8) c.3048del (p.Val1017TyrfsTer8) | |
| X | g.108694813A>C | CA517925537 | COL4A5 | c.4713A>C (p.Ala1571=) c.4695A>C (p.Ala1565=) n.1207A>C n.1199A>C c.111A>C (p.Ala37=) c.325-1484A>C c.4704A>C (p.Ala1568=) c.4389A>C (p.Ala1463=) c.2286A>C (p.Ala762=) c.4728A>C (p.Ala1576=) c.4719A>C (p.Ala1573=) c.4710A>C (p.Ala1570=) c.3048A>C (p.Ala1016=) | |
| X | g.108694813A>G | CA517925541 | COL4A5 | c.4713A>G (p.Ala1571=) c.4695A>G (p.Ala1565=) n.1207A>G n.1199A>G c.111A>G (p.Ala37=) c.325-1484A>G c.4704A>G (p.Ala1568=) c.4389A>G (p.Ala1463=) c.2286A>G (p.Ala762=) c.4728A>G (p.Ala1576=) c.4719A>G (p.Ala1573=) c.4710A>G (p.Ala1570=) c.3048A>G (p.Ala1016=) | |
| X | g.108694813A>T | CA517925543 | COL4A5 | c.4713A>T (p.Ala1571=) c.4695A>T (p.Ala1565=) n.1207A>T n.1199A>T c.111A>T (p.Ala37=) c.325-1484A>T c.4704A>T (p.Ala1568=) c.4389A>T (p.Ala1463=) c.2286A>T (p.Ala762=) c.4728A>T (p.Ala1576=) c.4719A>T (p.Ala1573=) c.4710A>T (p.Ala1570=) c.3048A>T (p.Ala1016=) | |
| X | g.108694814G>A | CA414132397 | COL4A5 | c.4714G>A (p.Val1572Ile) c.4696G>A (p.Val1566Ile) n.1208G>A n.1200G>A c.112G>A (p.Val38Ile) c.325-1483G>A c.4705G>A (p.Val1569Ile) c.4390G>A (p.Val1464Ile) c.2287G>A (p.Val763Ile) c.4729G>A (p.Val1577Ile) c.4720G>A (p.Val1574Ile) c.4711G>A (p.Val1571Ile) c.3049G>A (p.Val1017Ile) | gnomAD v4 |
| X | g.108694814G>C | CA414132398 | COL4A5 | c.4714G>C (p.Val1572Leu) c.4696G>C (p.Val1566Leu) n.1208G>C n.1200G>C c.112G>C (p.Val38Leu) c.325-1483G>C c.4705G>C (p.Val1569Leu) c.4390G>C (p.Val1464Leu) c.2287G>C (p.Val763Leu) c.4729G>C (p.Val1577Leu) c.4720G>C (p.Val1574Leu) c.4711G>C (p.Val1571Leu) c.3049G>C (p.Val1017Leu) | gnomAD v4 |
| X | g.108694814G>T | CA414132399 | COL4A5 | c.4714G>T (p.Val1572Leu) c.4696G>T (p.Val1566Leu) n.1208G>T n.1200G>T c.112G>T (p.Val38Leu) c.325-1483G>T c.4705G>T (p.Val1569Leu) c.4390G>T (p.Val1464Leu) c.2287G>T (p.Val763Leu) c.4729G>T (p.Val1577Leu) c.4720G>T (p.Val1574Leu) c.4711G>T (p.Val1571Leu) c.3049G>T (p.Val1017Leu) | |
| X | g.108694815T>A | CA414132400 | COL4A5 | c.4715T>A (p.Val1572Glu) c.4697T>A (p.Val1566Glu) n.1209T>A n.1201T>A c.113T>A (p.Val38Glu) c.325-1482T>A c.4706T>A (p.Val1569Glu) c.4391T>A (p.Val1464Glu) c.2288T>A (p.Val763Glu) c.4730T>A (p.Val1577Glu) c.4721T>A (p.Val1574Glu) c.4712T>A (p.Val1571Glu) c.3050T>A (p.Val1017Glu) | |
| X | g.108694815T>C | CA414132401 | COL4A5 | c.4715T>C (p.Val1572Ala) c.4697T>C (p.Val1566Ala) n.1209T>C n.1201T>C c.113T>C (p.Val38Ala) c.325-1482T>C c.4706T>C (p.Val1569Ala) c.4391T>C (p.Val1464Ala) c.2288T>C (p.Val763Ala) c.4730T>C (p.Val1577Ala) c.4721T>C (p.Val1574Ala) c.4712T>C (p.Val1571Ala) c.3050T>C (p.Val1017Ala) | |
| X | g.108694815T>G | CA414132402 | COL4A5 | c.4715T>G (p.Val1572Gly) c.4697T>G (p.Val1566Gly) n.1209T>G n.1201T>G c.113T>G (p.Val38Gly) c.325-1482T>G c.4706T>G (p.Val1569Gly) c.4391T>G (p.Val1464Gly) c.2288T>G (p.Val763Gly) c.4730T>G (p.Val1577Gly) c.4721T>G (p.Val1574Gly) c.4712T>G (p.Val1571Gly) c.3050T>G (p.Val1017Gly) | |
| X | g.108694816A>C | CA517925555 | COL4A5 | c.4716A>C (p.Val1572=) c.4698A>C (p.Val1566=) n.1210A>C n.1202A>C c.114A>C (p.Val38=) c.325-1481A>C c.4707A>C (p.Val1569=) c.4392A>C (p.Val1464=) c.2289A>C (p.Val763=) c.4731A>C (p.Val1577=) c.4722A>C (p.Val1574=) c.4713A>C (p.Val1571=) c.3051A>C (p.Val1017=) | |
| X | g.108694816A>G | CA517925557 | COL4A5 | c.4716A>G (p.Val1572=) c.4698A>G (p.Val1566=) n.1210A>G n.1202A>G c.114A>G (p.Val38=) c.325-1481A>G c.4707A>G (p.Val1569=) c.4392A>G (p.Val1464=) c.2289A>G (p.Val763=) c.4731A>G (p.Val1577=) c.4722A>G (p.Val1574=) c.4713A>G (p.Val1571=) c.3051A>G (p.Val1017=) | |
| X | g.108694816A>T | CA517925559 | COL4A5 | c.4716A>T (p.Val1572=) c.4698A>T (p.Val1566=) n.1210A>T n.1202A>T c.114A>T (p.Val38=) c.325-1481A>T c.4707A>T (p.Val1569=) c.4392A>T (p.Val1464=) c.2289A>T (p.Val763=) c.4731A>T (p.Val1577=) c.4722A>T (p.Val1574=) c.4713A>T (p.Val1571=) c.3051A>T (p.Val1017=) | |
| X | g.108694817T>A | CA414132403 | COL4A5 | c.4717T>A (p.Cys1573Ser) c.4699T>A (p.Cys1567Ser) n.1211T>A n.1203T>A c.115T>A (p.Cys39Ser) c.325-1480T>A c.4708T>A (p.Cys1570Ser) c.4393T>A (p.Cys1465Ser) c.2290T>A (p.Cys764Ser) c.4732T>A (p.Cys1578Ser) c.4723T>A (p.Cys1575Ser) c.4714T>A (p.Cys1572Ser) c.3052T>A (p.Cys1018Ser) | |
| X | g.108694817T>C | CA259092 | COL4A5 | c.4717T>C (p.Cys1573Arg) c.4699T>C (p.Cys1567Arg) n.1211T>C n.1203T>C c.115T>C (p.Cys39Arg) c.325-1480T>C c.4708T>C (p.Cys1570Arg) c.4393T>C (p.Cys1465Arg) c.2290T>C (p.Cys764Arg) c.4732T>C (p.Cys1578Arg) c.4723T>C (p.Cys1575Arg) c.4714T>C (p.Cys1572Arg) c.3052T>C (p.Cys1018Arg) | dbSNP |
| X | g.108694817T>G | CA414132404 | COL4A5 | c.4717T>G (p.Cys1573Gly) c.4699T>G (p.Cys1567Gly) n.1211T>G n.1203T>G c.115T>G (p.Cys39Gly) c.325-1480T>G c.4708T>G (p.Cys1570Gly) c.4393T>G (p.Cys1465Gly) c.2290T>G (p.Cys764Gly) c.4732T>G (p.Cys1578Gly) c.4723T>G (p.Cys1575Gly) c.4714T>G (p.Cys1572Gly) c.3052T>G (p.Cys1018Gly) | |
| X | g.108694817T= | CA2450721570 | COL4A5 | c.4717T= (p.Cys1573=) c.4699T= (p.Cys1567=) n.1211T= n.1203T= c.115T= (p.Cys39=) c.325-1480T= c.4708T= (p.Cys1570=) c.4393T= (p.Cys1465=) c.2290T= (p.Cys764=) c.4732T= (p.Cys1578=) c.4723T= (p.Cys1575=) c.4714T= (p.Cys1572=) c.3052T= (p.Cys1018=) | |
| X | g.108694818G>A | CA414132406 | COL4A5 | c.4718G>A (p.Cys1573Tyr) c.4700G>A (p.Cys1567Tyr) n.1212G>A n.1204G>A c.116G>A (p.Cys39Tyr) c.325-1479G>A c.4709G>A (p.Cys1570Tyr) c.4394G>A (p.Cys1465Tyr) c.2291G>A (p.Cys764Tyr) c.4733G>A (p.Cys1578Tyr) c.4724G>A (p.Cys1575Tyr) c.4715G>A (p.Cys1572Tyr) c.3053G>A (p.Cys1018Tyr) | gnomAD v4 |
| X | g.108694818G>C | CA414132407 | COL4A5 | c.4718G>C (p.Cys1573Ser) c.4700G>C (p.Cys1567Ser) n.1212G>C n.1204G>C c.116G>C (p.Cys39Ser) c.325-1479G>C c.4709G>C (p.Cys1570Ser) c.4394G>C (p.Cys1465Ser) c.2291G>C (p.Cys764Ser) c.4733G>C (p.Cys1578Ser) c.4724G>C (p.Cys1575Ser) c.4715G>C (p.Cys1572Ser) c.3053G>C (p.Cys1018Ser) | |
| X | g.108694818G= | CA2450721571 | COL4A5 | c.4718G= (p.Cys1573=) c.4700G= (p.Cys1567=) n.1212G= n.1204G= c.116G= (p.Cys39=) c.325-1479G= c.4709G= (p.Cys1570=) c.4394G= (p.Cys1465=) c.2291G= (p.Cys764=) c.4733G= (p.Cys1578=) c.4724G= (p.Cys1575=) c.4715G= (p.Cys1572=) c.3053G= (p.Cys1018=) | |
| X | g.108694818G>T | CA414132405 | COL4A5 | c.4718G>T (p.Cys1573Phe) c.4700G>T (p.Cys1567Phe) n.1212G>T n.1204G>T c.116G>T (p.Cys39Phe) c.325-1479G>T c.4709G>T (p.Cys1570Phe) c.4394G>T (p.Cys1465Phe) c.2291G>T (p.Cys764Phe) c.4733G>T (p.Cys1578Phe) c.4724G>T (p.Cys1575Phe) c.4715G>T (p.Cys1572Phe) c.3053G>T (p.Cys1018Phe) | |
| X | g.108694819T>A | CA414132409 | COL4A5 | c.4719T>A (p.Cys1573Ter) c.4701T>A (p.Cys1567Ter) n.1213T>A n.1205T>A c.117T>A (p.Cys39Ter) c.325-1478T>A c.4710T>A (p.Cys1570Ter) c.4395T>A (p.Cys1465Ter) c.2292T>A (p.Cys764Ter) c.4734T>A (p.Cys1578Ter) c.4725T>A (p.Cys1575Ter) c.4716T>A (p.Cys1572Ter) c.3054T>A (p.Cys1018Ter) | |
| X | g.108694819T>C | CA517925572 | COL4A5 | c.4719T>C (p.Cys1573=) c.4701T>C (p.Cys1567=) n.1213T>C n.1205T>C c.117T>C (p.Cys39=) c.325-1478T>C c.4710T>C (p.Cys1570=) c.4395T>C (p.Cys1465=) c.2292T>C (p.Cys764=) c.4734T>C (p.Cys1578=) c.4725T>C (p.Cys1575=) c.4716T>C (p.Cys1572=) c.3054T>C (p.Cys1018=) | |
| X | g.108694819T>G | CA414132408 | COL4A5 | c.4719T>G (p.Cys1573Trp) c.4701T>G (p.Cys1567Trp) n.1213T>G n.1205T>G c.117T>G (p.Cys39Trp) c.325-1478T>G c.4710T>G (p.Cys1570Trp) c.4395T>G (p.Cys1465Trp) c.2292T>G (p.Cys764Trp) c.4734T>G (p.Cys1578Trp) c.4725T>G (p.Cys1575Trp) c.4716T>G (p.Cys1572Trp) c.3054T>G (p.Cys1018Trp) | |
| X | g.108694819T= | CA2450721572 | COL4A5 | c.4719T= (p.Cys1573=) c.4701T= (p.Cys1567=) n.1213T= n.1205T= c.117T= (p.Cys39=) c.325-1478T= c.4710T= (p.Cys1570=) c.4395T= (p.Cys1465=) c.2292T= (p.Cys764=) c.4734T= (p.Cys1578=) c.4725T= (p.Cys1575=) c.4716T= (p.Cys1572=) c.3054T= (p.Cys1018=) | |
| X | g.108694820G>A | CA259094 | COL4A5 | c.4720G>A (p.Glu1574Lys) c.4702G>A (p.Glu1568Lys) n.1214G>A n.1206G>A c.118G>A (p.Glu40Lys) c.325-1477G>A c.4711G>A (p.Glu1571Lys) c.4396G>A (p.Glu1466Lys) c.2293G>A (p.Glu765Lys) c.4735G>A (p.Glu1579Lys) c.4726G>A (p.Glu1576Lys) c.4717G>A (p.Glu1573Lys) c.3055G>A (p.Glu1019Lys) | dbSNP |
| X | g.108694820G>C | CA414132410 | COL4A5 | c.4720G>C (p.Glu1574Gln) c.4702G>C (p.Glu1568Gln) n.1214G>C n.1206G>C c.118G>C (p.Glu40Gln) c.325-1477G>C c.4711G>C (p.Glu1571Gln) c.4396G>C (p.Glu1466Gln) c.2293G>C (p.Glu765Gln) c.4735G>C (p.Glu1579Gln) c.4726G>C (p.Glu1576Gln) c.4717G>C (p.Glu1573Gln) c.3055G>C (p.Glu1019Gln) | |
| X | g.108694820G= | CA2450721573 | COL4A5 | c.4720G= (p.Glu1574=) c.4702G= (p.Glu1568=) n.1214G= n.1206G= c.118G= (p.Glu40=) c.325-1477G= c.4711G= (p.Glu1571=) c.4396G= (p.Glu1466=) c.2293G= (p.Glu765=) c.4735G= (p.Glu1579=) c.4726G= (p.Glu1576=) c.4717G= (p.Glu1573=) c.3055G= (p.Glu1019=) | |
| X | g.108694820G>T | CA414132411 | COL4A5 | c.4720G>T (p.Glu1574Ter) c.4702G>T (p.Glu1568Ter) n.1214G>T n.1206G>T c.118G>T (p.Glu40Ter) c.325-1477G>T c.4711G>T (p.Glu1571Ter) c.4396G>T (p.Glu1466Ter) c.2293G>T (p.Glu765Ter) c.4735G>T (p.Glu1579Ter) c.4726G>T (p.Glu1576Ter) c.4717G>T (p.Glu1573Ter) c.3055G>T (p.Glu1019Ter) | |
| X | g.108694821A>C | CA414132412 | COL4A5 | c.4721A>C (p.Glu1574Ala) c.4703A>C (p.Glu1568Ala) n.1215A>C n.1207A>C c.119A>C (p.Glu40Ala) c.325-1476A>C c.4712A>C (p.Glu1571Ala) c.4397A>C (p.Glu1466Ala) c.2294A>C (p.Glu765Ala) c.4736A>C (p.Glu1579Ala) c.4727A>C (p.Glu1576Ala) c.4718A>C (p.Glu1573Ala) c.3056A>C (p.Glu1019Ala) | |
| X | g.108694821A>G | CA414132413 | COL4A5 | c.4721A>G (p.Glu1574Gly) c.4703A>G (p.Glu1568Gly) n.1215A>G n.1207A>G c.119A>G (p.Glu40Gly) c.325-1476A>G c.4712A>G (p.Glu1571Gly) c.4397A>G (p.Glu1466Gly) c.2294A>G (p.Glu765Gly) c.4736A>G (p.Glu1579Gly) c.4727A>G (p.Glu1576Gly) c.4718A>G (p.Glu1573Gly) c.3056A>G (p.Glu1019Gly) | |
| X | g.108694821A>T | CA414132414 | COL4A5 | c.4721A>T (p.Glu1574Val) c.4703A>T (p.Glu1568Val) n.1215A>T n.1207A>T c.119A>T (p.Glu40Val) c.325-1476A>T c.4712A>T (p.Glu1571Val) c.4397A>T (p.Glu1466Val) c.2294A>T (p.Glu765Val) c.4736A>T (p.Glu1579Val) c.4727A>T (p.Glu1576Val) c.4718A>T (p.Glu1573Val) c.3056A>T (p.Glu1019Val) | |
| X | g.108694822A>C | CA414132416 | COL4A5 | c.4722A>C (p.Glu1574Asp) c.4704A>C (p.Glu1568Asp) n.1216A>C n.1208A>C c.120A>C (p.Glu40Asp) c.325-1475A>C c.4713A>C (p.Glu1571Asp) c.4398A>C (p.Glu1466Asp) c.2295A>C (p.Glu765Asp) c.4737A>C (p.Glu1579Asp) c.4728A>C (p.Glu1576Asp) c.4719A>C (p.Glu1573Asp) c.3057A>C (p.Glu1019Asp) | |
| X | g.108694822A>G | CA517925581 | COL4A5 | c.4722A>G (p.Glu1574=) c.4704A>G (p.Glu1568=) n.1216A>G n.1208A>G c.120A>G (p.Glu40=) c.325-1475A>G c.4713A>G (p.Glu1571=) c.4398A>G (p.Glu1466=) c.2295A>G (p.Glu765=) c.4737A>G (p.Glu1579=) c.4728A>G (p.Glu1576=) c.4719A>G (p.Glu1573=) c.3057A>G (p.Glu1019=) |