| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108595557G>A | CA258482 | COL4A5 | c.1472G>A (p.Gly491Glu) n.928G>A c.1148G>A (p.Gly383Glu) c.1487G>A (p.Gly496Glu) c.-194G>A (n.-194G>A) | dbSNP COSMIC |
| X | g.108595557G>C | CA413935791 | COL4A5 | c.1472G>C (p.Gly491Ala) n.928G>C c.1148G>C (p.Gly383Ala) c.1487G>C (p.Gly496Ala) c.-194G>C (n.-194G>C) | |
| X | g.108595557G= | CA2450687744 | COL4A5 | c.1472G= (p.Gly491=) n.928G= c.1148G= (p.Gly383=) c.1487G= (p.Gly496=) c.-194G= (n.-194G=) | |
| X | g.108595557G>T | CA413935795 | COL4A5 | c.1472G>T (p.Gly491Val) n.928G>T c.1148G>T (p.Gly383Val) c.1487G>T (p.Gly496Val) c.-194G>T (n.-194G>T) | |
| X | g.108595558G>A | CA517992361 | COL4A5 | c.1473G>A (p.Gly491=) n.929G>A c.1149G>A (p.Gly383=) c.1488G>A (p.Gly496=) c.-193G>A (n.-193G>A) | |
| X | g.108595558G>C | CA517992362 | COL4A5 | c.1473G>C (p.Gly491=) n.929G>C c.1149G>C (p.Gly383=) c.1488G>C (p.Gly496=) c.-193G>C (n.-193G>C) | |
| X | g.108595558G>T | CA517992363 | COL4A5 | c.1473G>T (p.Gly491=) n.929G>T c.1149G>T (p.Gly383=) c.1488G>T (p.Gly496=) c.-193G>T (n.-193G>T) | |
| X | g.108595559C>A | CA413935810 | COL4A5 | c.1474C>A (p.Pro492Thr) n.930C>A c.1150C>A (p.Pro384Thr) c.1489C>A (p.Pro497Thr) c.-192C>A (n.-192C>A) | |
| X | g.108595559C= | CA2450687745 | COL4A5 | c.1474C= (p.Pro492=) n.930C= c.1150C= (p.Pro384=) c.1489C= (p.Pro497=) c.-192C= (n.-192C=) | |
| X | g.108595559C>G | CA413935848 | COL4A5 | c.1474C>G (p.Pro492Ala) n.930C>G c.1150C>G (p.Pro384Ala) c.1489C>G (p.Pro497Ala) c.-192C>G (n.-192C>G) | dbSNP |
| X | g.108595559C>T | CA413935849 | COL4A5 | c.1474C>T (p.Pro492Ser) n.930C>T c.1150C>T (p.Pro384Ser) c.1489C>T (p.Pro497Ser) c.-192C>T (n.-192C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108595559_108595560delinsTAT | CA2695235615 | COL4A5 | c.1474_1475delinsTAT (p.Pro492TyrfsTer?) n.930_931delinsTAT c.1150_1151delinsTAT (p.Pro384TyrfsTer?) c.1489_1490delinsTAT (p.Pro497TyrfsTer?) c.-192_-191delinsTAT (n.-192_-191delinsTAT) | |
| 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.108595560C>A | CA413935854 | COL4A5 | c.1475C>A (p.Pro492His) n.931C>A c.1151C>A (p.Pro384His) c.1490C>A (p.Pro497His) c.-191C>A (n.-191C>A) | |
| X | g.108595560C= | CA2450687746 | COL4A5 | c.1475C= (p.Pro492=) n.931C= c.1151C= (p.Pro384=) c.1490C= (p.Pro497=) c.-191C= (n.-191C=) | |
| X | g.108595560C>G | CA413935850 | COL4A5 | c.1475C>G (p.Pro492Arg) n.931C>G c.1151C>G (p.Pro384Arg) c.1490C>G (p.Pro497Arg) c.-191C>G (n.-191C>G) | |
| X | g.108595560C>T | CA413935852 | COL4A5 | c.1475C>T (p.Pro492Leu) n.931C>T c.1151C>T (p.Pro384Leu) c.1490C>T (p.Pro497Leu) c.-191C>T (n.-191C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108595561T>A | CA517992364 | COL4A5 | c.1476T>A (p.Pro492=) n.932T>A c.1152T>A (p.Pro384=) c.1491T>A (p.Pro497=) c.-190T>A (n.-190T>A) | |
| X | g.108595561T>C | CA517992365 | COL4A5 | c.1476T>C (p.Pro492=) n.932T>C c.1152T>C (p.Pro384=) c.1491T>C (p.Pro497=) c.-190T>C (n.-190T>C) | |
| X | g.108595561T>G | CA517992366 | COL4A5 | c.1476T>G (p.Pro492=) n.932T>G c.1152T>G (p.Pro384=) c.1491T>G (p.Pro497=) c.-190T>G (n.-190T>G) | |
| 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) | |
| 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 |