| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108668320_108668505del | CA2695235652 | COL4A5 | c.3606_3790+1del c.3282_3466+1del c.1179_1363+1del c.3621_3805+1del c.1941_2125+1del | |
| X | g.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC | CA2450712935 | COL4A5 | c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=) c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=) c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=) c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=) c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=) | |
| X | g.108668371_108668442del | CA258920 | COL4A5 | c.3657_3728del (p.Gly1220_Pro1243del) c.3333_3404del (p.Gly1112_Pro1135del) c.1230_1301del (p.Gly411_Pro434del) c.3672_3743del (p.Gly1225_Pro1248del) c.1992_2063del (p.Gly665_Pro688del) | dbSNP |
| X | g.108668406dup | CA258931 | COL4A5 | c.3692dup (p.Gly1232TrpfsTer20) c.3368dup (p.Gly1124TrpfsTer20) c.1265dup (p.Gly423TrpfsTer20) c.3707dup (p.Gly1237TrpfsTer20) c.2027dup (p.Gly677TrpfsTer20) | dbSNP |
| X | g.108668406del | CA258930 | COL4A5 | c.3692del (p.Pro1231LeufsTer?) c.3368del (p.Pro1123LeufsTer?) c.1265del (p.Pro422LeufsTer?) c.3707del (p.Pro1236LeufsTer?) c.2027del (p.Pro676LeufsTer?) | dbSNP |
| X | g.108668405C>A | CA413848772 | COL4A5 | c.3691C>A (p.Pro1231Thr) c.3367C>A (p.Pro1123Thr) c.1264C>A (p.Pro422Thr) c.3706C>A (p.Pro1236Thr) c.2026C>A (p.Pro676Thr) | |
| X | g.108668405C= | CA2450712949 | COL4A5 | c.3691C= (p.Pro1231=) c.3367C= (p.Pro1123=) c.1264C= (p.Pro422=) c.3706C= (p.Pro1236=) c.2026C= (p.Pro676=) | |
| X | g.108668405C>G | CA413848774 | COL4A5 | c.3691C>G (p.Pro1231Ala) c.3367C>G (p.Pro1123Ala) c.1264C>G (p.Pro422Ala) c.3706C>G (p.Pro1236Ala) c.2026C>G (p.Pro676Ala) | |
| X | g.108668405C>T | CA413848777 | COL4A5 | c.3691C>T (p.Pro1231Ser) c.3367C>T (p.Pro1123Ser) c.1264C>T (p.Pro422Ser) c.3706C>T (p.Pro1236Ser) c.2026C>T (p.Pro676Ser) | dbSNP COSMIC COSMIC |
| X | g.108668406C>A | CA413848780 | COL4A5 | c.3692C>A (p.Pro1231His) c.3368C>A (p.Pro1123His) c.1265C>A (p.Pro422His) c.3707C>A (p.Pro1236His) c.2027C>A (p.Pro676His) | dbSNP gnomAD v4 |
| X | g.108668406C= | CA2450712950 | COL4A5 | c.3692C= (p.Pro1231=) c.3368C= (p.Pro1123=) c.1265C= (p.Pro422=) c.3707C= (p.Pro1236=) c.2027C= (p.Pro676=) | |
| X | g.108668406C>G | CA334046811 | COL4A5 | c.3692C>G (p.Pro1231Arg) c.3368C>G (p.Pro1123Arg) c.1265C>G (p.Pro422Arg) c.3707C>G (p.Pro1236Arg) c.2027C>G (p.Pro676Arg) | dbSNP gnomAD v4 |
| X | g.108668406C>T | CA413848783 | COL4A5 | c.3692C>T (p.Pro1231Leu) c.3368C>T (p.Pro1123Leu) c.1265C>T (p.Pro422Leu) c.3707C>T (p.Pro1236Leu) c.2027C>T (p.Pro676Leu) | |
| X | g.108668407T>A | CA517922682 | COL4A5 | c.3693T>A (p.Pro1231=) c.3369T>A (p.Pro1123=) c.1266T>A (p.Pro422=) c.3708T>A (p.Pro1236=) c.2028T>A (p.Pro676=) | |
| X | g.108668407T>C | CA517922683 | COL4A5 | c.3693T>C (p.Pro1231=) c.3369T>C (p.Pro1123=) c.1266T>C (p.Pro422=) c.3708T>C (p.Pro1236=) c.2028T>C (p.Pro676=) | |
| X | g.108668407T>G | CA517922684 | COL4A5 | c.3693T>G (p.Pro1231=) c.3369T>G (p.Pro1123=) c.1266T>G (p.Pro422=) c.3708T>G (p.Pro1236=) c.2028T>G (p.Pro676=) | |
| X | g.108668407_108668408delinsTG | CA2450712951 | COL4A5 | c.3693_3694delinsTG (p.Pro1231=) c.3369_3370delinsTG (p.Pro1123=) c.1266_1267delinsTG (p.Pro422=) c.3708_3709delinsTG (p.Pro1236=) c.2028_2029delinsTG (p.Pro676=) | |
| X | g.108668408G>A | CA258932 | COL4A5 | c.3694G>A (p.Gly1232Ser) c.3370G>A (p.Gly1124Ser) c.1267G>A (p.Gly423Ser) c.3709G>A (p.Gly1237Ser) c.2029G>A (p.Gly677Ser) | dbSNP |
| X | g.108668408G>C | CA413848789 | COL4A5 | c.3694G>C (p.Gly1232Arg) c.3370G>C (p.Gly1124Arg) c.1267G>C (p.Gly423Arg) c.3709G>C (p.Gly1237Arg) c.2029G>C (p.Gly677Arg) | |
| X | g.108668408G= | CA2450712952 | COL4A5 | c.3694G= (p.Gly1232=) c.3370G= (p.Gly1124=) c.1267G= (p.Gly423=) c.3709G= (p.Gly1237=) c.2029G= (p.Gly677=) | |
| X | g.108668408G>T | CA413848786 | COL4A5 | c.3694G>T (p.Gly1232Cys) c.3370G>T (p.Gly1124Cys) c.1267G>T (p.Gly423Cys) c.3709G>T (p.Gly1237Cys) c.2029G>T (p.Gly677Cys) | |
| X | g.108668409del | CA658659032 | COL4A5 | c.3695del (p.Gly1232ValfsTer?) c.3371del (p.Gly1124ValfsTer?) c.1268del (p.Gly423ValfsTer?) c.3710del (p.Gly1237ValfsTer?) c.2030del (p.Gly677ValfsTer?) | ClinVar dbSNP |
| X | g.108668409G>A | CA413848793 | COL4A5 | c.3695G>A (p.Gly1232Asp) c.3371G>A (p.Gly1124Asp) c.1268G>A (p.Gly423Asp) c.3710G>A (p.Gly1237Asp) c.2030G>A (p.Gly677Asp) | ClinVar |
| X | g.108668409G>C | CA413848797 | COL4A5 | c.3695G>C (p.Gly1232Ala) c.3371G>C (p.Gly1124Ala) c.1268G>C (p.Gly423Ala) c.3710G>C (p.Gly1237Ala) c.2030G>C (p.Gly677Ala) | |
| X | g.108668409G>T | CA413848795 | COL4A5 | c.3695G>T (p.Gly1232Val) c.3371G>T (p.Gly1124Val) c.1268G>T (p.Gly423Val) c.3710G>T (p.Gly1237Val) c.2030G>T (p.Gly677Val) | |
| X | g.108668410T>A | CA517922687 | COL4A5 | c.3696T>A (p.Gly1232=) c.3372T>A (p.Gly1124=) c.1269T>A (p.Gly423=) c.3711T>A (p.Gly1237=) c.2031T>A (p.Gly677=) | |
| X | g.108668410T>C | CA517922686 | COL4A5 | c.3696T>C (p.Gly1232=) c.3372T>C (p.Gly1124=) c.1269T>C (p.Gly423=) c.3711T>C (p.Gly1237=) c.2031T>C (p.Gly677=) | ClinVar |
| X | g.108668410T>G | CA517922685 | COL4A5 | c.3696T>G (p.Gly1232=) c.3372T>G (p.Gly1124=) c.1269T>G (p.Gly423=) c.3711T>G (p.Gly1237=) c.2031T>G (p.Gly677=) | |
| X | g.108668411G>A | CA413848799 | COL4A5 | c.3697G>A (p.Val1233Met) c.3373G>A (p.Val1125Met) c.1270G>A (p.Val424Met) c.3712G>A (p.Val1238Met) c.2032G>A (p.Val678Met) | dbSNP |
| X | g.108668411G>C | CA413848802 | COL4A5 | c.3697G>C (p.Val1233Leu) c.3373G>C (p.Val1125Leu) c.1270G>C (p.Val424Leu) c.3712G>C (p.Val1238Leu) c.2032G>C (p.Val678Leu) | |
| X | g.108668411G= | CA2450712953 | COL4A5 | c.3697G= (p.Val1233=) c.3373G= (p.Val1125=) c.1270G= (p.Val424=) c.3712G= (p.Val1238=) c.2032G= (p.Val678=) | |
| X | g.108668411G>T | CA413848803 | COL4A5 | c.3697G>T (p.Val1233Leu) c.3373G>T (p.Val1125Leu) c.1270G>T (p.Val424Leu) c.3712G>T (p.Val1238Leu) c.2032G>T (p.Val678Leu) | |
| X | g.108668412T>A | CA413848806 | COL4A5 | c.3698T>A (p.Val1233Glu) c.3374T>A (p.Val1125Glu) c.1271T>A (p.Val424Glu) c.3713T>A (p.Val1238Glu) c.2033T>A (p.Val678Glu) | |
| X | g.108668412T>C | CA413848807 | COL4A5 | c.3698T>C (p.Val1233Ala) c.3374T>C (p.Val1125Ala) c.1271T>C (p.Val424Ala) c.3713T>C (p.Val1238Ala) c.2033T>C (p.Val678Ala) | |
| X | g.108668412T>G | CA413848808 | COL4A5 | c.3698T>G (p.Val1233Gly) c.3374T>G (p.Val1125Gly) c.1271T>G (p.Val424Gly) c.3713T>G (p.Val1238Gly) c.2033T>G (p.Val678Gly) | |
| X | g.108668413G>A | CA517922688 | COL4A5 | c.3699G>A (p.Val1233=) c.3375G>A (p.Val1125=) c.1272G>A (p.Val424=) c.3714G>A (p.Val1238=) c.2034G>A (p.Val678=) | ClinVar |
| X | g.108668413G>C | CA517922689 | COL4A5 | c.3699G>C (p.Val1233=) c.3375G>C (p.Val1125=) c.1272G>C (p.Val424=) c.3714G>C (p.Val1238=) c.2034G>C (p.Val678=) | |
| X | g.108668413G>T | CA517922690 | COL4A5 | c.3699G>T (p.Val1233=) c.3375G>T (p.Val1125=) c.1272G>T (p.Val424=) c.3714G>T (p.Val1238=) c.2034G>T (p.Val678=) | |
| X | g.108668414C>A | CA413848809 | COL4A5 | c.3700C>A (p.Gln1234Lys) c.3376C>A (p.Gln1126Lys) c.1273C>A (p.Gln425Lys) c.3715C>A (p.Gln1239Lys) c.2035C>A (p.Gln679Lys) | COSMIC COSMIC |
| X | g.108668414C= | CA2450712954 | COL4A5 | c.3700C= (p.Gln1234=) c.3376C= (p.Gln1126=) c.1273C= (p.Gln425=) c.3715C= (p.Gln1239=) c.2035C= (p.Gln679=) | |
| X | g.108668414C>G | CA413848811 | COL4A5 | c.3700C>G (p.Gln1234Glu) c.3376C>G (p.Gln1126Glu) c.1273C>G (p.Gln425Glu) c.3715C>G (p.Gln1239Glu) c.2035C>G (p.Gln679Glu) | |
| X | g.108668414C>T | CA258935 | COL4A5 | c.3700C>T (p.Gln1234Ter) c.3376C>T (p.Gln1126Ter) c.1273C>T (p.Gln425Ter) c.3715C>T (p.Gln1239Ter) c.2035C>T (p.Gln679Ter) | dbSNP |
| X | g.108668415A>C | CA413848816 | COL4A5 | c.3701A>C (p.Gln1234Pro) c.3377A>C (p.Gln1126Pro) c.1274A>C (p.Gln425Pro) c.3716A>C (p.Gln1239Pro) c.2036A>C (p.Gln679Pro) | |
| X | g.108668415A>G | CA413848818 | COL4A5 | c.3701A>G (p.Gln1234Arg) c.3377A>G (p.Gln1126Arg) c.1274A>G (p.Gln425Arg) c.3716A>G (p.Gln1239Arg) c.2036A>G (p.Gln679Arg) | |
| X | g.108668415A>T | CA413848820 | COL4A5 | c.3701A>T (p.Gln1234Leu) c.3377A>T (p.Gln1126Leu) c.1274A>T (p.Gln425Leu) c.3716A>T (p.Gln1239Leu) c.2036A>T (p.Gln679Leu) | |
| X | g.108668416G>A | CA517922691 | COL4A5 | c.3702G>A (p.Gln1234=) c.3378G>A (p.Gln1126=) c.1275G>A (p.Gln425=) c.3717G>A (p.Gln1239=) c.2037G>A (p.Gln679=) | |
| X | g.108668416G>C | CA413848826 | COL4A5 | c.3702G>C (p.Gln1234His) c.3378G>C (p.Gln1126His) c.1275G>C (p.Gln425His) c.3717G>C (p.Gln1239His) c.2037G>C (p.Gln679His) | |
| X | g.108668416G>T | CA413848824 | COL4A5 | c.3702G>T (p.Gln1234His) c.3378G>T (p.Gln1126His) c.1275G>T (p.Gln425His) c.3717G>T (p.Gln1239His) c.2037G>T (p.Gln679His) | |
| X | g.108668422_108668448del | CA2695235655 | COL4A5 | c.3708_3734del (p.Pro1237_Pro1245del) c.3384_3410del (p.Pro1129_Pro1137del) c.1281_1307del (p.Pro428_Pro436del) c.3723_3749del (p.Pro1242_Pro1250del) c.2043_2069del (p.Pro682_Pro690del) | |
| X | g.108668417G>A | CA413848829 | COL4A5 | c.3703G>A (p.Gly1235Ser) c.3379G>A (p.Gly1127Ser) c.1276G>A (p.Gly426Ser) c.3718G>A (p.Gly1240Ser) c.2038G>A (p.Gly680Ser) |