Table 3.
Detailed genetic results
| Identifier | Gene | Inheritance | Mutation(s)/cDNA | Mutation(s)/protein | Tissue |
|---|---|---|---|---|---|
| 1 | COL4A5 | hz | c.3958A>T | p.(Lys1230*) | K |
| 2 | COL4A5 | hz | c.1217G>T | p.(Gly406Val) | K |
| 3 | COL4A5 | hz | c.937del | p.(Gly313Aspfs*72) | B |
| 4 | COL4A5 | hz | c.4976+2T>C | p.(?) | B |
| 4s | COL4A5 | hz | c.4976+2T>C | p.(?) | NT |
| 5 | COL4A5 | hz | c.2078G>T | p.(Gly693Val) | B |
| 6 | COL4A5 | h | c.4757G>A | p.(Cys1586Tyr) | NT |
| 6s | COL4A5 | hz | c.4757G>A | p.(Cys1586Tyr) | B |
| 6s | COL4A5 | hz | c.4757G>A | p.(Cys1586Tyr) | B |
| 6s | COL4A5 | hz | c.4757G>A | p.(Cys1586Tyr) | B |
| 7 | COL4A5 | hz | c.1525G>A | p.(Gly509Ser) | B |
| 7s | COL4A5 | hz | c.1525G>A | p.(Gly509Ser) | B |
| 8 | COL4A5 | hz | c.944del | p.(Pro315Leufs*31) | K |
| 9 | COL4A5 | hz | c.412G>A | p.(Gly138Ser) | K |
| 10 | COL4A5 | hz | c.610-2A>G | p.(?) | K |
| 11 | COL4A5 | hz | c.1871G>A | p.(Gly624Asp) | B |
| 12 | COL4A5 | hz | c.3293G>A | p.(Gly1098Asp) | NT |
| 12s | COL4A5 | h | c.3293G>A | p.(Gly1098Asp) | B |
| 12s | COL4A5 | h | c.3293G>A | p.(Gly1098Asp) | NT |
| 13 | COL4A5 | hz | c.1018G>C | p.(gly340Arg) | K |
| 14 | COL4A5 | h | c.1A>C | p.(Met1?) | B |
| 15 | COL4A5 | h | c.3270C>A | p.(Tyr1090*) | B |
| 16 | COL4A5 | hz | c.1507G>C | p.(Gly503Arg) | B |
| 17 | COL4A5 | hz | c.4976+2T>C | p.(?) | B |
| 18 | COL4A5 | hz | c.(4065+1_4066-1)_(*5058_?)del | p.0? | B |
| 19 | COL4A5 | hz | c.(4065+1_4066-1)_(*5058_?)del | p.0? | B |
| 20 | COL4A5 | hz | c.2416C>T | p.(Gly1277Ser) | B |
| 21 | COL4A5 | hz | c.1525G>A | p.(Gly509Ser) | B |
| 22 | COL4A5 | hz | c.3035G>A | p.(Gly1012Asp) | NT |
| 22s | COL4A5 | hz | c.3035G>A | p.(Gly1012Asp) | NT |
| 23 | COL4A5 | hz | c.4391-1G>A | p.(?) | B |
| 24 | COL4A5 | hz | c.547-1G>C | p.(?) | K |
| 25 | COL4A5 | hz | c.2981del | p.(Gly994Aspfs*1) | B |
| 26 | COL4A5 | hz | c.2509G>A | p.(Gly837Ser) | K |
| 27 | COL4A5 | hz | c.2086G>C | p.(Gly696Arg) | K |
| 28 | COL4A5 | hz | c.1931G>A | p.(Gly644Asp) | K |
| 29 | COL4A5 | h | c.1226G>A | p.(Gly409Asp) | B |
| 30 | COL4A5 | hz | c.4975A>T | p.(Ser1659Cys) | B |
| 31 | COL4A5 | hz | c.2057del | p.(Pro686GInfs*50) | K |
| 32 | COL4A5 | hz | c.1483_1516del | p.(Gln495Aspfs*51) | NT |
| 32s | COL4A5 | hz | c.1483_1516del | p.(Gln495Aspfs*51) | K |
| 32s | COL4A5 | hz | c.1483_1516del | p.(Gln495Aspfs*51) | NT |
| 32s | COL4A5 | hz | c.1483_1516del | p.(Gln495Aspfs*51) | NT |
| 33 | COL4A5 | h | c.2057del | p.(Pro686GInfs*50) | K |
| 34 | COL4A5 | hz | c.(1777+1_1778-1)_(1951+1_1952-1)del | p.0? | B |
| 35 | COL4A5 | hz | c.1624G>T | p.(Gly542*) | K |
| 35s | COL4A5 | hz | c.1624G>T | p.(Gly542*) | NT |
| 36 | COL4A5 | hz | c.796C>T | p.(Arg266*) | B |
| 37 | COL4A5 | hz | c.1102G>A | p.(Gly368Arg) | K |
| 38 | COL4A5 | hz | c.3329del | p.(Gly1110Glufs*42) | K |
| 38s | COL4A5 | hz | c.3329del | p.(Gly1110Glufs*42) | NT |
| 39 | COL4A5 | hz | c.1018G>C | p.(gly340Arg) | B |
| 40 | COL4A5 | hz | c.4687C>T | p.(Arg1563*) | B |
| 41 | COL4A5 | hz | c.(3015+1_3016-1)_(3108+1_3109-1)del | p.0? | B |
| 42 | COL4A5 | hz | c.548G>T | p.(Gly183Val) | B |
| 43 | COL4A5 | hz | c.4688+1G>T | p.(?) | K |
| 44 | COL4A5 | hz | c.546+2T>C | p.(?) | B |
| 45 | COL4A3 | ch | c.934G>C/c.4564T>C | (p.(Gly312Arg)/p.(Trp1522Arg) | B |
| 46 | COL4A3 | ch | c.713del/c.1937del | p.(Pro238Argfs*8)/p.(Gly646Glufs*100) | B |
| 47 | COL4A3 | H | c.713del | p.(Pro238Argfs*8) | B |
| 48 | COL4A3 | ch | c.3244_3247del/c.-13G>C | p.(Lys1082Glufs*71)/p.0? | B |
| 49 | COL4A3 | ch | c.2083G>A/c.4772 | p.(Gly695Arg)/p.(Ser1591Phe) | B |
| 50 | COL4A3 | ch | c.1918G>A/ c.3211-1G>T | p.(Gly640Arg)/p.(?) | B |
| 51 | COL4A3 | h | c.1219G>C | p.(Gly407Arg) | B |
| 52 | COL4A3 | H | c.4441C>T | p.(Arg1481*) | B |
| 53 | COL4A3 | H | c.522dup | p.(Leu175Cysfs*47) | B |
| 54 | COL4A4 | ch | c.2908C>T/c.2756A>G + c.3725G>T | p.(Gln970*)/p.(Gly1242Val&p.Glu919Gly) | B |
| 54s | COL4A4 | ch | c.2908C>T/c.2756A>G + c.3725G>T | p.(Gln970*)/p.(Gly1242Val&p.Glu919Gly) | NT |
| 55 | COL4A4 | H | c.4129C>T | p.(Arg1377*) | K |
| 55s | COL4A4 | H | c.4129C>T | p.(Arg1377*) | K |
| 56 | COL4A4 | ch | c.1109G>A/c.43_54del | p.(Gly370Glu)/p.(Pro15_Leu18del) | B |
| 57 | COL4A4 | h | c.4787G>A | p.Trp1596X | B |
| 58 | COL4A3/COL4A4 | ch | c.599C>T/c.481G>C | p.(Pro200Leu)/p.(Gly161Arg) | B |
B, blood; ch, compound heterozygote; h, heterozygote; H, homozygote; hz, hemizygote; K, kidney; NT, not tested; S, sibling.
Female identifiers are shown in bold.