Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108595568_108595603del | CA2695235616 | COL4A5 | c.1483_1516+2del n.939_972+2del c.1159_1192+2del c.1498_1531+2del c.-183_-150+2del | |
X | g.108595562C>A | CA413935858 | COL4A5 | c.1477C>A (p.Pro493Thr) n.933C>A c.1153C>A (p.Pro385Thr) c.1492C>A (p.Pro498Thr) c.-189C>A (n.-189C>A) | |
X | g.108595562C>G | CA413935859 | COL4A5 | c.1477C>G (p.Pro493Ala) n.933C>G c.1153C>G (p.Pro385Ala) c.1492C>G (p.Pro498Ala) c.-189C>G (n.-189C>G) | |
X | g.108595562C>T | CA413935861 | COL4A5 | c.1477C>T (p.Pro493Ser) n.933C>T c.1153C>T (p.Pro385Ser) c.1492C>T (p.Pro498Ser) c.-189C>T (n.-189C>T) | |
X | g.108595569_108595586del | CA2695235617 | COL4A5 | c.1484_1501del (p.Gln495_Gly500del) n.940_957del c.1160_1177del (p.Gln387_Gly392del) c.1499_1516del (p.Gln500_Gly505del) c.-182_-165del (n.-182_-165del) | |
X | g.108595563C>A | CA413935865 | COL4A5 | c.1478C>A (p.Pro493Gln) n.934C>A c.1154C>A (p.Pro385Gln) c.1493C>A (p.Pro498Gln) c.-188C>A (n.-188C>A) | |
X | g.108595563C= | CA2450687747 | COL4A5 | c.1478C= (p.Pro493=) n.934C= c.1154C= (p.Pro385=) c.1493C= (p.Pro498=) c.-188C= (n.-188C=) | |
X | g.108595563C>G | CA413935868 | COL4A5 | c.1478C>G (p.Pro493Arg) n.934C>G c.1154C>G (p.Pro385Arg) c.1493C>G (p.Pro498Arg) c.-188C>G (n.-188C>G) | |
X | g.108595563C>T | CA413935895 | COL4A5 | c.1478C>T (p.Pro493Leu) n.934C>T c.1154C>T (p.Pro385Leu) c.1493C>T (p.Pro498Leu) c.-188C>T (n.-188C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108595564A>C | CA517992367 | COL4A5 | c.1479A>C (p.Pro493=) n.935A>C c.1155A>C (p.Pro385=) c.1494A>C (p.Pro498=) c.-187A>C (n.-187A>C) | |
X | g.108595564A>G | CA517992368 | COL4A5 | c.1479A>G (p.Pro493=) n.935A>G c.1155A>G (p.Pro385=) c.1494A>G (p.Pro498=) c.-187A>G (n.-187A>G) | ClinVar |
X | g.108595564A>T | CA517992369 | COL4A5 | c.1479A>T (p.Pro493=) n.935A>T c.1155A>T (p.Pro385=) c.1494A>T (p.Pro498=) c.-187A>T (n.-187A>T) | |
X | g.108595565G>A | CA413935899 | COL4A5 | c.1480G>A (p.Gly494Ser) n.936G>A c.1156G>A (p.Gly386Ser) c.1495G>A (p.Gly499Ser) c.-186G>A (n.-186G>A) | gnomAD v4 |
X | g.108595565G>C | CA413935901 | COL4A5 | c.1480G>C (p.Gly494Arg) n.936G>C c.1156G>C (p.Gly386Arg) c.1495G>C (p.Gly499Arg) c.-186G>C (n.-186G>C) | ClinVar dbSNP |
X | g.108595565G= | CA2450687748 | COL4A5 | c.1480G= (p.Gly494=) n.936G= c.1156G= (p.Gly386=) c.1495G= (p.Gly499=) c.-186G= (n.-186G=) | |
X | g.108595565G>T | CA413935902 | COL4A5 | c.1480G>T (p.Gly494Cys) n.936G>T c.1156G>T (p.Gly386Cys) c.1495G>T (p.Gly499Cys) c.-186G>T (n.-186G>T) | ClinVar dbSNP |
X | g.108595566del | CA2580100157 | COL4A5 | c.1481del (p.Gly494ValfsTer?) n.937del c.1157del (p.Gly386ValfsTer?) c.1496del (p.Gly499ValfsTer?) c.-185del (n.-185del) | ClinVar |
X | g.108595566G>A | CA258484 | COL4A5 | c.1481G>A (p.Gly494Asp) n.937G>A c.1157G>A (p.Gly386Asp) c.1496G>A (p.Gly499Asp) c.-185G>A (n.-185G>A) | ClinVar dbSNP |
X | g.108595566G>C | CA413935906 | COL4A5 | c.1481G>C (p.Gly494Ala) n.937G>C c.1157G>C (p.Gly386Ala) c.1496G>C (p.Gly499Ala) c.-185G>C (n.-185G>C) | |
X | g.108595566G= | CA2450687749 | COL4A5 | c.1481G= (p.Gly494=) n.937G= c.1157G= (p.Gly386=) c.1496G= (p.Gly499=) c.-185G= (n.-185G=) | |
X | g.108595566G>T | CA413935909 | COL4A5 | c.1481G>T (p.Gly494Val) n.937G>T c.1157G>T (p.Gly386Val) c.1496G>T (p.Gly499Val) c.-185G>T (n.-185G>T) | |
X | g.108595567T>A | CA517992370 | COL4A5 | c.1482T>A (p.Gly494=) n.938T>A c.1158T>A (p.Gly386=) c.1497T>A (p.Gly499=) c.-184T>A (n.-184T>A) | |
X | g.108595567T>C | CA517992371 | COL4A5 | c.1482T>C (p.Gly494=) n.938T>C c.1158T>C (p.Gly386=) c.1497T>C (p.Gly499=) c.-184T>C (n.-184T>C) | |
X | g.108595567T>G | CA517992372 | COL4A5 | c.1482T>G (p.Gly494=) n.938T>G c.1158T>G (p.Gly386=) c.1497T>G (p.Gly499=) c.-184T>G (n.-184T>G) | |
X | g.108595567T= | CA2450687750 | COL4A5 | c.1482T= (p.Gly494=) n.938T= c.1158T= (p.Gly386=) c.1497T= (p.Gly499=) c.-184T= (n.-184T=) | |
X | g.108595567_108595568del | CA2580100158 | COL4A5 | c.1482_1483del (p.Gln495ThrfsTer?) n.938_939del c.1158_1159del (p.Gln387ThrfsTer?) c.1497_1498del (p.Gln500ThrfsTer?) c.-184_-183del (n.-184_-183del) | ClinVar |
X | g.108595568C>A | CA10488747 | COL4A5 | c.1483C>A (p.Gln495Lys) n.939C>A c.1159C>A (p.Gln387Lys) c.1498C>A (p.Gln500Lys) c.-183C>A (n.-183C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108595568C= | CA2450687752 | COL4A5 | c.1483C= (p.Gln495=) n.939C= c.1159C= (p.Gln387=) c.1498C= (p.Gln500=) c.-183C= (n.-183C=) | |
X | g.108595568C>G | CA413935930 | COL4A5 | c.1483C>G (p.Gln495Glu) n.939C>G c.1159C>G (p.Gln387Glu) c.1498C>G (p.Gln500Glu) c.-183C>G (n.-183C>G) | |
X | g.108595568C>T | CA413935924 | COL4A5 | c.1483C>T (p.Gln495Ter) n.939C>T c.1159C>T (p.Gln387Ter) c.1498C>T (p.Gln500Ter) c.-183C>T (n.-183C>T) | COSMIC |
X | g.108595568dup | CA658653716 | COL4A5 | c.1483dup (p.Gln495ProfsTer?) n.939dup c.1159dup (p.Gln387ProfsTer?) c.1498dup (p.Gln500ProfsTer?) c.-183dup (n.-183dup) | ClinVar dbSNP |
X | g.108595568_108595605delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA | CA2450687751 | COL4A5 | c.1483_1516+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA n.939_972+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA c.1159_1192+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA c.1498_1531+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA c.-183_-150+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA | |
X | g.108595569A>C | CA413935937 | COL4A5 | c.1484A>C (p.Gln495Pro) n.940A>C c.1160A>C (p.Gln387Pro) c.1499A>C (p.Gln500Pro) c.-182A>C (n.-182A>C) | |
X | g.108595569A>G | CA413935942 | COL4A5 | c.1484A>G (p.Gln495Arg) n.940A>G c.1160A>G (p.Gln387Arg) c.1499A>G (p.Gln500Arg) c.-182A>G (n.-182A>G) | |
X | g.108595569A>T | CA413935947 | COL4A5 | c.1484A>T (p.Gln495Leu) n.940A>T c.1160A>T (p.Gln387Leu) c.1499A>T (p.Gln500Leu) c.-182A>T (n.-182A>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108595570_108595606del | CA334182870 | COL4A5 | c.1485_1516+5del n.941_972+5del c.1161_1192+5del c.1500_1531+5del c.-181_-150+5del | dbSNP |
X | g.108595570A= | CA2450687753 | COL4A5 | c.1485A= (p.Gln495=) n.941A= c.1161A= (p.Gln387=) c.1500A= (p.Gln500=) c.-181A= (n.-181A=) | |
X | g.108595570A>C | CA413935950 | COL4A5 | c.1485A>C (p.Gln495His) n.941A>C c.1161A>C (p.Gln387His) c.1500A>C (p.Gln500His) c.-181A>C (n.-181A>C) | |
X | g.108595570A>G | CA517992373 | COL4A5 | c.1485A>G (p.Gln495=) n.941A>G c.1161A>G (p.Gln387=) c.1500A>G (p.Gln500=) c.-181A>G (n.-181A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108595570A>T | CA413935951 | COL4A5 | c.1485A>T (p.Gln495His) n.941A>T c.1161A>T (p.Gln387His) c.1500A>T (p.Gln500His) c.-181A>T (n.-181A>T) | |
X | g.108595571C>A | CA413935952 | COL4A5 | c.1486C>A (p.Pro496Thr) n.942C>A c.1162C>A (p.Pro388Thr) c.1501C>A (p.Pro501Thr) c.-180C>A (n.-180C>A) | |
X | g.108595571C>G | CA413935953 | COL4A5 | c.1486C>G (p.Pro496Ala) n.942C>G c.1162C>G (p.Pro388Ala) c.1501C>G (p.Pro501Ala) c.-180C>G (n.-180C>G) | |
X | g.108595571C>T | CA413935955 | COL4A5 | c.1486C>T (p.Pro496Ser) n.942C>T c.1162C>T (p.Pro388Ser) c.1501C>T (p.Pro501Ser) c.-180C>T (n.-180C>T) | |
X | g.108595572C>A | CA413935959 | COL4A5 | c.1487C>A (p.Pro496His) n.943C>A c.1163C>A (p.Pro388His) c.1502C>A (p.Pro501His) c.-179C>A (n.-179C>A) | |
X | g.108595572C= | CA2450687754 | COL4A5 | c.1487C= (p.Pro496=) n.943C= c.1163C= (p.Pro388=) c.1502C= (p.Pro501=) c.-179C= (n.-179C=) | |
X | g.108595572C>G | CA413935961 | COL4A5 | c.1487C>G (p.Pro496Arg) n.943C>G c.1163C>G (p.Pro388Arg) c.1502C>G (p.Pro501Arg) c.-179C>G (n.-179C>G) | gnomAD v3 gnomAD v4 |
X | g.108595572C>T | CA413935963 | COL4A5 | c.1487C>T (p.Pro496Leu) n.943C>T c.1163C>T (p.Pro388Leu) c.1502C>T (p.Pro501Leu) c.-179C>T (n.-179C>T) | dbSNP |
X | g.108595573T>A | CA517992374 | COL4A5 | c.1488T>A (p.Pro496=) n.944T>A c.1164T>A (p.Pro388=) c.1503T>A (p.Pro501=) c.-178T>A (n.-178T>A) | |
X | g.108595573T>C | CA517992375 | COL4A5 | c.1488T>C (p.Pro496=) n.944T>C c.1164T>C (p.Pro388=) c.1503T>C (p.Pro501=) c.-178T>C (n.-178T>C) | dbSNP |
X | g.108595573T>G | CA517992376 | COL4A5 | c.1488T>G (p.Pro496=) n.944T>G c.1164T>G (p.Pro388=) c.1503T>G (p.Pro501=) c.-178T>G (n.-178T>G) |