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.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.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) | |
X | g.108595573T= | CA2450687755 | COL4A5 | c.1488T= (p.Pro496=) n.944T= c.1164T= (p.Pro388=) c.1503T= (p.Pro501=) c.-178T= (n.-178T=) | |
X | g.108595574G>A | CA413935966 | COL4A5 | c.1489G>A (p.Gly497Ser) n.945G>A c.1165G>A (p.Gly389Ser) c.1504G>A (p.Gly502Ser) c.-177G>A (n.-177G>A) | |
X | g.108595574G>C | CA413935972 | COL4A5 | c.1489G>C (p.Gly497Arg) n.945G>C c.1165G>C (p.Gly389Arg) c.1504G>C (p.Gly502Arg) c.-177G>C (n.-177G>C) | |
X | g.108595574G= | CA2450687756 | COL4A5 | c.1489G= (p.Gly497=) n.945G= c.1165G= (p.Gly389=) c.1504G= (p.Gly502=) c.-177G= (n.-177G=) | |
X | g.108595574G>T | CA258486 | COL4A5 | c.1489G>T (p.Gly497Cys) n.945G>T c.1165G>T (p.Gly389Cys) c.1504G>T (p.Gly502Cys) c.-177G>T (n.-177G>T) | dbSNP |
X | g.108595575G>A | CA413935983 | COL4A5 | c.1490G>A (p.Gly497Asp) n.946G>A c.1166G>A (p.Gly389Asp) c.1505G>A (p.Gly502Asp) c.-176G>A (n.-176G>A) | ClinVar dbSNP |
X | g.108595575G>C | CA413935988 | COL4A5 | c.1490G>C (p.Gly497Ala) n.946G>C c.1166G>C (p.Gly389Ala) c.1505G>C (p.Gly502Ala) c.-176G>C (n.-176G>C) | |
X | g.108595575G>T | CA413935992 | COL4A5 | c.1490G>T (p.Gly497Val) n.946G>T c.1166G>T (p.Gly389Val) c.1505G>T (p.Gly502Val) c.-176G>T (n.-176G>T) | |
X | g.108595576T>A | CA517992377 | COL4A5 | c.1491T>A (p.Gly497=) n.947T>A c.1167T>A (p.Gly389=) c.1506T>A (p.Gly502=) c.-175T>A (n.-175T>A) | |
X | g.108595576T>C | CA517992379 | COL4A5 | c.1491T>C (p.Gly497=) n.947T>C c.1167T>C (p.Gly389=) c.1506T>C (p.Gly502=) c.-175T>C (n.-175T>C) | |
X | g.108595576T>G | CA517992378 | COL4A5 | c.1491T>G (p.Gly497=) n.947T>G c.1167T>G (p.Gly389=) c.1506T>G (p.Gly502=) c.-175T>G (n.-175T>G) | |
X | g.108595577T>A | CA413935993 | COL4A5 | c.1492T>A (p.Leu498Met) n.948T>A c.1168T>A (p.Leu390Met) c.1507T>A (p.Leu503Met) c.-174T>A (n.-174T>A) | |
X | g.108595577T>C | CA517992380 | COL4A5 | c.1492T>C (p.Leu498=) n.948T>C c.1168T>C (p.Leu390=) c.1507T>C (p.Leu503=) c.-174T>C (n.-174T>C) | |
X | g.108595577T>G | CA413935994 | COL4A5 | c.1492T>G (p.Leu498Val) n.948T>G c.1168T>G (p.Leu390Val) c.1507T>G (p.Leu503Val) c.-174T>G (n.-174T>G) |