| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108625733_108625734delinsAC | CA2450697897 | COL4A5 | c.3045_3046delinsAC (p.Gly1015=) n.2501_2502delinsAC c.278_279delinsAC c.2721_2722delinsAC (p.Gly907=) c.618_619delinsAC (p.Gly206=) c.3060_3061delinsAC (p.Gly1020=) c.1380_1381delinsAC (p.Gly460=) | |
| X | g.108625734del | CA261091 | COL4A5 | c.3046del (p.Gln1016SerfsTer5) n.2502del c.279del c.2722del (p.Gln908SerfsTer5) c.619del (p.Gln207SerfsTer5) c.3061del (p.Gln1021SerfsTer5) c.1381del (p.Gln461SerfsTer5) | dbSNP |
| X | g.108625734C>A | CA413854558 | COL4A5 | c.3046C>A (p.Gln1016Lys) n.2502C>A c.279C>A c.2722C>A (p.Gln908Lys) c.619C>A (p.Gln207Lys) c.3061C>A (p.Gln1021Lys) c.1381C>A (p.Gln461Lys) | |
| X | g.108625734C= | CA2450697899 | COL4A5 | c.3046C= (p.Gln1016=) n.2502C= c.279C= c.2722C= (p.Gln908=) c.619C= (p.Gln207=) c.3061C= (p.Gln1021=) c.1381C= (p.Gln461=) | |
| X | g.108625734C>G | CA413854556 | COL4A5 | c.3046C>G (p.Gln1016Glu) n.2502C>G c.279C>G c.2722C>G (p.Gln908Glu) c.619C>G (p.Gln207Glu) c.3061C>G (p.Gln1021Glu) c.1381C>G (p.Gln461Glu) | |
| X | g.108625734C>T | CA258796 | COL4A5 | c.3046C>T (p.Gln1016Ter) n.2502C>T c.279C>T c.2722C>T (p.Gln908Ter) c.619C>T (p.Gln207Ter) c.3061C>T (p.Gln1021Ter) c.1381C>T (p.Gln461Ter) | dbSNP |
| X | g.108625735A>C | CA413854561 | COL4A5 | c.3047A>C (p.Gln1016Pro) n.2503A>C c.280A>C c.2723A>C (p.Gln908Pro) c.620A>C (p.Gln207Pro) c.3062A>C (p.Gln1021Pro) c.1382A>C (p.Gln461Pro) | |
| X | g.108625735A>G | CA413854563 | COL4A5 | c.3047A>G (p.Gln1016Arg) n.2503A>G c.280A>G c.2723A>G (p.Gln908Arg) c.620A>G (p.Gln207Arg) c.3062A>G (p.Gln1021Arg) c.1382A>G (p.Gln461Arg) | |
| X | g.108625735A>T | CA413854564 | COL4A5 | c.3047A>T (p.Gln1016Leu) n.2503A>T c.280A>T c.2723A>T (p.Gln908Leu) c.620A>T (p.Gln207Leu) c.3062A>T (p.Gln1021Leu) c.1382A>T (p.Gln461Leu) | |
| X | g.108625736G>A | CA517925354 | COL4A5 | c.3048G>A (p.Gln1016=) n.2504G>A c.281G>A c.2724G>A (p.Gln908=) c.621G>A (p.Gln207=) c.3063G>A (p.Gln1021=) c.1383G>A (p.Gln461=) | |
| X | g.108625736G>C | CA413854566 | COL4A5 | c.3048G>C (p.Gln1016His) n.2504G>C c.281G>C c.2724G>C (p.Gln908His) c.621G>C (p.Gln207His) c.3063G>C (p.Gln1021His) c.1383G>C (p.Gln461His) | |
| X | g.108625736G>T | CA413854568 | COL4A5 | c.3048G>T (p.Gln1016His) n.2504G>T c.281G>T c.2724G>T (p.Gln908His) c.621G>T (p.Gln207His) c.3063G>T (p.Gln1021His) c.1383G>T (p.Gln461His) | |
| X | g.108625737C>A | CA413854570 | COL4A5 | c.3049C>A (p.Pro1017Thr) n.2505C>A c.282C>A c.2725C>A (p.Pro909Thr) c.622C>A (p.Pro208Thr) c.3064C>A (p.Pro1022Thr) c.1384C>A (p.Pro462Thr) | |
| X | g.108625737C>G | CA413854572 | COL4A5 | c.3049C>G (p.Pro1017Ala) n.2505C>G c.282C>G c.2725C>G (p.Pro909Ala) c.622C>G (p.Pro208Ala) c.3064C>G (p.Pro1022Ala) c.1384C>G (p.Pro462Ala) | |
| X | g.108625737C>T | CA413854574 | COL4A5 | c.3049C>T (p.Pro1017Ser) n.2505C>T c.282C>T c.2725C>T (p.Pro909Ser) c.622C>T (p.Pro208Ser) c.3064C>T (p.Pro1022Ser) c.1384C>T (p.Pro462Ser) | |
| X | g.108625738C>A | CA413854576 | COL4A5 | c.3050C>A (p.Pro1017Gln) n.2506C>A c.283C>A c.2726C>A (p.Pro909Gln) c.623C>A (p.Pro208Gln) c.3065C>A (p.Pro1022Gln) c.1385C>A (p.Pro462Gln) | |
| X | g.108625738C>G | CA413854578 | COL4A5 | c.3050C>G (p.Pro1017Arg) n.2506C>G c.283C>G c.2726C>G (p.Pro909Arg) c.623C>G (p.Pro208Arg) c.3065C>G (p.Pro1022Arg) c.1385C>G (p.Pro462Arg) | |
| X | g.108625738C>T | CA413854579 | COL4A5 | c.3050C>T (p.Pro1017Leu) n.2506C>T c.283C>T c.2726C>T (p.Pro909Leu) c.623C>T (p.Pro208Leu) c.3065C>T (p.Pro1022Leu) c.1385C>T (p.Pro462Leu) | |
| X | g.108625739A>C | CA517925357 | COL4A5 | c.3051A>C (p.Pro1017=) n.2507A>C c.284A>C c.2727A>C (p.Pro909=) c.624A>C (p.Pro208=) c.3066A>C (p.Pro1022=) c.1386A>C (p.Pro462=) | |
| X | g.108625739A>G | CA517925355 | COL4A5 | c.3051A>G (p.Pro1017=) n.2507A>G c.284A>G c.2727A>G (p.Pro909=) c.624A>G (p.Pro208=) c.3066A>G (p.Pro1022=) c.1386A>G (p.Pro462=) | gnomAD v4 |
| X | g.108625739A>T | CA517925356 | COL4A5 | c.3051A>T (p.Pro1017=) n.2507A>T c.284A>T c.2727A>T (p.Pro909=) c.624A>T (p.Pro208=) c.3066A>T (p.Pro1022=) c.1386A>T (p.Pro462=) | |
| X | g.108625739dup | CA2573159096 | COL4A5 | c.3051dup (p.Gly1018ArgfsTer9) n.2507dup c.284dup c.2727dup (p.Gly910ArgfsTer9) c.624dup (p.Gly209ArgfsTer9) c.3066dup (p.Gly1023ArgfsTer9) c.1386dup (p.Gly463ArgfsTer9) | ClinVar dbSNP |
| X | g.108625740G>A | CA413854581 | COL4A5 | c.3052G>A (p.Gly1018Ser) n.2508G>A c.285G>A c.2728G>A (p.Gly910Ser) c.625G>A (p.Gly209Ser) c.3067G>A (p.Gly1023Ser) c.1387G>A (p.Gly463Ser) | ClinVar |
| X | g.108625740G>C | CA413854583 | COL4A5 | c.3052G>C (p.Gly1018Arg) n.2508G>C c.285G>C c.2728G>C (p.Gly910Arg) c.625G>C (p.Gly209Arg) c.3067G>C (p.Gly1023Arg) c.1387G>C (p.Gly463Arg) | |
| X | g.108625740G= | CA2450697900 | COL4A5 | c.3052G= (p.Gly1018=) n.2508G= c.285G= c.2728G= (p.Gly910=) c.625G= (p.Gly209=) c.3067G= (p.Gly1023=) c.1387G= (p.Gly463=) | |
| X | g.108625740G>T | CA413854585 | COL4A5 | c.3052G>T (p.Gly1018Cys) n.2508G>T c.285G>T c.2728G>T (p.Gly910Cys) c.625G>T (p.Gly209Cys) c.3067G>T (p.Gly1023Cys) c.1387G>T (p.Gly463Cys) | ClinVar dbSNP |
| X | g.108625741del | CA2695235751 | COL4A5 | c.3053del (p.Gly1018ValfsTer3) n.2509del c.286del c.2729del (p.Gly910ValfsTer3) c.626del (p.Gly209ValfsTer3) c.3068del (p.Gly1023ValfsTer3) c.1388del (p.Gly463ValfsTer3) | |
| X | g.108625741G>A | CA413854589 | COL4A5 | c.3053G>A (p.Gly1018Asp) n.2509G>A c.286G>A c.2729G>A (p.Gly910Asp) c.626G>A (p.Gly209Asp) c.3068G>A (p.Gly1023Asp) c.1388G>A (p.Gly463Asp) | ClinVar |
| X | g.108625741G>C | CA413854591 | COL4A5 | c.3053G>C (p.Gly1018Ala) n.2509G>C c.286G>C c.2729G>C (p.Gly910Ala) c.626G>C (p.Gly209Ala) c.3068G>C (p.Gly1023Ala) c.1388G>C (p.Gly463Ala) | |
| X | g.108625741G= | CA2450697901 | COL4A5 | c.3053G= (p.Gly1018=) n.2509G= c.286G= c.2729G= (p.Gly910=) c.626G= (p.Gly209=) c.3068G= (p.Gly1023=) c.1388G= (p.Gly463=) | |
| X | g.108625741G>T | CA413854587 | COL4A5 | c.3053G>T (p.Gly1018Val) n.2509G>T c.286G>T c.2729G>T (p.Gly910Val) c.626G>T (p.Gly209Val) c.3068G>T (p.Gly1023Val) c.1388G>T (p.Gly463Val) | ClinVar |
| X | g.108625742T>A | CA517925358 | COL4A5 | c.3054T>A (p.Gly1018=) n.2510T>A c.287T>A c.2730T>A (p.Gly910=) c.627T>A (p.Gly209=) c.3069T>A (p.Gly1023=) c.1389T>A (p.Gly463=) | |
| X | g.108625742T>C | CA517925359 | COL4A5 | c.3054T>C (p.Gly1018=) n.2510T>C c.287T>C c.2730T>C (p.Gly910=) c.627T>C (p.Gly209=) c.3069T>C (p.Gly1023=) c.1389T>C (p.Gly463=) | |
| X | g.108625742T>G | CA517925360 | COL4A5 | c.3054T>G (p.Gly1018=) n.2510T>G c.287T>G c.2730T>G (p.Gly910=) c.627T>G (p.Gly209=) c.3069T>G (p.Gly1023=) c.1389T>G (p.Gly463=) | |
| X | g.108625743C>A | CA413854593 | COL4A5 | c.3055C>A (p.Leu1019Ile) n.2511C>A c.288C>A c.2731C>A (p.Leu911Ile) c.628C>A (p.Leu210Ile) c.3070C>A (p.Leu1024Ile) c.1390C>A (p.Leu464Ile) | |
| X | g.108625743C= | CA2450697903 | COL4A5 | c.3055C= (p.Leu1019=) n.2511C= c.288C= c.2731C= (p.Leu911=) c.628C= (p.Leu210=) c.3070C= (p.Leu1024=) c.1390C= (p.Leu464=) | |
| X | g.108625743C>G | CA413854595 | COL4A5 | c.3055C>G (p.Leu1019Val) n.2511C>G c.288C>G c.2731C>G (p.Leu911Val) c.628C>G (p.Leu210Val) c.3070C>G (p.Leu1024Val) c.1390C>G (p.Leu464Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108625743C>T | CA413854596 | COL4A5 | c.3055C>T (p.Leu1019Phe) n.2511C>T c.288C>T c.2731C>T (p.Leu911Phe) c.628C>T (p.Leu210Phe) c.3070C>T (p.Leu1024Phe) c.1390C>T (p.Leu464Phe) | |
| X | g.108625743_108625744delinsCT | CA2450697902 | COL4A5 | c.3055_3056delinsCT (p.Leu1019=) n.2511_2512delinsCT c.288_289delinsCT c.2731_2732delinsCT (p.Leu911=) c.628_629delinsCT (p.Leu210=) c.3070_3071delinsCT (p.Leu1024=) c.1390_1391delinsCT (p.Leu464=) | |
| X | g.108625744T>A | CA413854599 | COL4A5 | c.3056T>A (p.Leu1019His) n.2512T>A c.289T>A c.2732T>A (p.Leu911His) c.629T>A (p.Leu210His) c.3071T>A (p.Leu1024His) c.1391T>A (p.Leu464His) | |
| X | g.108625744T>C | CA413854601 | COL4A5 | c.3056T>C (p.Leu1019Pro) n.2512T>C c.289T>C c.2732T>C (p.Leu911Pro) c.629T>C (p.Leu210Pro) c.3071T>C (p.Leu1024Pro) c.1391T>C (p.Leu464Pro) | COSMIC |
| X | g.108625744T>G | CA413854603 | COL4A5 | c.3056T>G (p.Leu1019Arg) n.2512T>G c.289T>G c.2732T>G (p.Leu911Arg) c.629T>G (p.Leu210Arg) c.3071T>G (p.Leu1024Arg) c.1391T>G (p.Leu464Arg) | |
| X | g.108625745del | CA258799 | COL4A5 | c.3057del (p.Ile1020Ter) n.2513del c.290del c.2733del (p.Ile912Ter) c.630del (p.Ile211Ter) c.3072del (p.Ile1025Ter) c.1392del (p.Ile465Ter) | dbSNP |
| X | g.108625745T>A | CA517925361 | COL4A5 | c.3057T>A (p.Leu1019=) n.2513T>A c.290T>A c.2733T>A (p.Leu911=) c.630T>A (p.Leu210=) c.3072T>A (p.Leu1024=) c.1392T>A (p.Leu464=) | gnomAD v4 |
| X | g.108625745T>C | CA517925362 | COL4A5 | c.3057T>C (p.Leu1019=) n.2513T>C c.290T>C c.2733T>C (p.Leu911=) c.630T>C (p.Leu210=) c.3072T>C (p.Leu1024=) c.1392T>C (p.Leu464=) | COSMIC COSMIC |
| X | g.108625745T>G | CA517925363 | COL4A5 | c.3057T>G (p.Leu1019=) n.2513T>G c.290T>G c.2733T>G (p.Leu911=) c.630T>G (p.Leu210=) c.3072T>G (p.Leu1024=) c.1392T>G (p.Leu464=) | |
| X | g.108625746A= | CA2450697904 | COL4A5 | c.3058A= (p.Ile1020=) n.2514A= c.291A= c.2734A= (p.Ile912=) c.631A= (p.Ile211=) c.3073A= (p.Ile1025=) c.1393A= (p.Ile465=) | |
| X | g.108625746A>C | CA413854606 | COL4A5 | c.3058A>C (p.Ile1020Leu) n.2514A>C c.291A>C c.2734A>C (p.Ile912Leu) c.631A>C (p.Ile211Leu) c.3073A>C (p.Ile1025Leu) c.1393A>C (p.Ile465Leu) | |
| X | g.108625746A>G | CA10489025 | COL4A5 | c.3058A>G (p.Ile1020Val) n.2514A>G c.291A>G c.2734A>G (p.Ile912Val) c.631A>G (p.Ile211Val) c.3073A>G (p.Ile1025Val) c.1393A>G (p.Ile465Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108625746A>T | CA413854608 | COL4A5 | c.3058A>T (p.Ile1020Leu) n.2514A>T c.291A>T c.2734A>T (p.Ile912Leu) c.631A>T (p.Ile211Leu) c.3073A>T (p.Ile1025Leu) c.1393A>T (p.Ile465Leu) |