| 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.108668332_108668335del | CA334046710 | COL4A5 | c.3618_3621del (p.Asp1206GlufsTer?) c.3294_3297del (p.Asp1098GlufsTer?) c.1191_1194del (p.Asp397GlufsTer?) c.3633_3636del (p.Asp1211GlufsTer?) c.1953_1956del (p.Asp651GlufsTer?) | dbSNP |
| X | g.108668331_108668336delinsATGGAG | CA2450712918 | COL4A5 | c.3617_3622delinsATGGAG (p.Asp1206=) c.3293_3298delinsATGGAG (p.Asp1098=) c.1190_1195delinsATGGAG (p.Asp397=) c.3632_3637delinsATGGAG (p.Asp1211=) c.1952_1957delinsATGGAG (p.Asp651=) | |
| X | g.108668332_108668336del | CA891843683 | COL4A5 | c.3618_3622del (p.Asp1206GlufsTer?) c.3294_3298del (p.Asp1098GlufsTer?) c.1191_1195del (p.Asp397GlufsTer?) c.3633_3637del (p.Asp1211GlufsTer?) c.1953_1957del (p.Asp651GlufsTer?) | |
| X | g.108668335A>C | CA517922552 | COL4A5 | c.3621A>C (p.Gly1207=) c.3297A>C (p.Gly1099=) c.1194A>C (p.Gly398=) c.3636A>C (p.Gly1212=) c.1956A>C (p.Gly652=) | |
| X | g.108668335A>G | CA517922553 | COL4A5 | c.3621A>G (p.Gly1207=) c.3297A>G (p.Gly1099=) c.1194A>G (p.Gly398=) c.3636A>G (p.Gly1212=) c.1956A>G (p.Gly652=) | ClinVar dbSNP gnomAD v4 |
| X | g.108668335A>T | CA517922554 | COL4A5 | c.3621A>T (p.Gly1207=) c.3297A>T (p.Gly1099=) c.1194A>T (p.Gly398=) c.3636A>T (p.Gly1212=) c.1956A>T (p.Gly652=) | |
| X | g.108668336G>A | CA413848390 | COL4A5 | c.3622G>A (p.Gly1208Arg) c.3298G>A (p.Gly1100Arg) c.1195G>A (p.Gly399Arg) c.3637G>A (p.Gly1213Arg) c.1957G>A (p.Gly653Arg) | gnomAD v4 |
| X | g.108668336G>C | CA413848393 | COL4A5 | c.3622G>C (p.Gly1208Arg) c.3298G>C (p.Gly1100Arg) c.1195G>C (p.Gly399Arg) c.3637G>C (p.Gly1213Arg) c.1957G>C (p.Gly653Arg) | ClinVar |
| X | g.108668336G>T | CA413848395 | COL4A5 | c.3622G>T (p.Gly1208Ter) c.3298G>T (p.Gly1100Ter) c.1195G>T (p.Gly399Ter) c.3637G>T (p.Gly1213Ter) c.1957G>T (p.Gly653Ter) | |
| X | g.108668337G>A | CA413848399 | COL4A5 | c.3623G>A (p.Gly1208Glu) c.3299G>A (p.Gly1100Glu) c.1196G>A (p.Gly399Glu) c.3638G>A (p.Gly1213Glu) c.1958G>A (p.Gly653Glu) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108668337G>C | CA413848401 | COL4A5 | c.3623G>C (p.Gly1208Ala) c.3299G>C (p.Gly1100Ala) c.1196G>C (p.Gly399Ala) c.3638G>C (p.Gly1213Ala) c.1958G>C (p.Gly653Ala) | |
| X | g.108668337G= | CA2450712920 | COL4A5 | c.3623G= (p.Gly1208=) c.3299G= (p.Gly1100=) c.1196G= (p.Gly399=) c.3638G= (p.Gly1213=) c.1958G= (p.Gly653=) | |
| X | g.108668337G>T | CA413848397 | COL4A5 | c.3623G>T (p.Gly1208Val) c.3299G>T (p.Gly1100Val) c.1196G>T (p.Gly399Val) c.3638G>T (p.Gly1213Val) c.1958G>T (p.Gly653Val) | |
| X | g.108668337_108668338del | CA2695235654 | COL4A5 | c.3623_3624del (p.Gly1208ValfsTer?) c.3299_3300del (p.Gly1100ValfsTer?) c.1196_1197del (p.Gly399ValfsTer?) c.3638_3639del (p.Gly1213ValfsTer?) c.1958_1959del (p.Gly653ValfsTer?) | |
| X | g.108668338A>C | CA517922555 | COL4A5 | c.3624A>C (p.Gly1208=) c.3300A>C (p.Gly1100=) c.1197A>C (p.Gly399=) c.3639A>C (p.Gly1213=) c.1959A>C (p.Gly653=) | ClinVar |
| X | g.108668338A>G | CA517922556 | COL4A5 | c.3624A>G (p.Gly1208=) c.3300A>G (p.Gly1100=) c.1197A>G (p.Gly399=) c.3639A>G (p.Gly1213=) c.1959A>G (p.Gly653=) | |
| X | g.108668338A>T | CA517922557 | COL4A5 | c.3624A>T (p.Gly1208=) c.3300A>T (p.Gly1100=) c.1197A>T (p.Gly399=) c.3639A>T (p.Gly1213=) c.1959A>T (p.Gly653=) | |
| X | g.108668339T>A | CA413848404 | COL4A5 | c.3625T>A (p.Leu1209Ile) c.3301T>A (p.Leu1101Ile) c.1198T>A (p.Leu400Ile) c.3640T>A (p.Leu1214Ile) c.1960T>A (p.Leu654Ile) | |
| X | g.108668339T>C | CA517922558 | COL4A5 | c.3625T>C (p.Leu1209=) c.3301T>C (p.Leu1101=) c.1198T>C (p.Leu400=) c.3640T>C (p.Leu1214=) c.1960T>C (p.Leu654=) | |
| X | g.108668339T>G | CA413848406 | COL4A5 | c.3625T>G (p.Leu1209Val) c.3301T>G (p.Leu1101Val) c.1198T>G (p.Leu400Val) c.3640T>G (p.Leu1214Val) c.1960T>G (p.Leu654Val) | |
| X | g.108668340T>A | CA413848408 | COL4A5 | c.3626T>A (p.Leu1209Ter) c.3302T>A (p.Leu1101Ter) c.1199T>A (p.Leu400Ter) c.3641T>A (p.Leu1214Ter) c.1961T>A (p.Leu654Ter) | |
| X | g.108668340T>C | CA413848410 | COL4A5 | c.3626T>C (p.Leu1209Ser) c.3302T>C (p.Leu1101Ser) c.1199T>C (p.Leu400Ser) c.3641T>C (p.Leu1214Ser) c.1961T>C (p.Leu654Ser) | |
| X | g.108668340T>G | CA413848413 | COL4A5 | c.3626T>G (p.Leu1209Ter) c.3302T>G (p.Leu1101Ter) c.1199T>G (p.Leu400Ter) c.3641T>G (p.Leu1214Ter) c.1961T>G (p.Leu654Ter) | |
| X | g.108668341A>C | CA413848415 | COL4A5 | c.3627A>C (p.Leu1209Phe) c.3303A>C (p.Leu1101Phe) c.1200A>C (p.Leu400Phe) c.3642A>C (p.Leu1214Phe) c.1962A>C (p.Leu654Phe) | |
| X | g.108668341A>G | CA517922559 | COL4A5 | c.3627A>G (p.Leu1209=) c.3303A>G (p.Leu1101=) c.1200A>G (p.Leu400=) c.3642A>G (p.Leu1214=) c.1962A>G (p.Leu654=) | COSMIC COSMIC |
| X | g.108668341A>T | CA413848417 | COL4A5 | c.3627A>T (p.Leu1209Phe) c.3303A>T (p.Leu1101Phe) c.1200A>T (p.Leu400Phe) c.3642A>T (p.Leu1214Phe) c.1962A>T (p.Leu654Phe) | |
| X | g.108668342C>A | CA413848420 | COL4A5 | c.3628C>A (p.Pro1210Thr) c.3304C>A (p.Pro1102Thr) c.1201C>A (p.Pro401Thr) c.3643C>A (p.Pro1215Thr) c.1963C>A (p.Pro655Thr) | COSMIC COSMIC |
| X | g.108668342C= | CA2450712921 | COL4A5 | c.3628C= (p.Pro1210=) c.3304C= (p.Pro1102=) c.1201C= (p.Pro401=) c.3643C= (p.Pro1215=) c.1963C= (p.Pro655=) | |
| X | g.108668342C>G | CA413848422 | COL4A5 | c.3628C>G (p.Pro1210Ala) c.3304C>G (p.Pro1102Ala) c.1201C>G (p.Pro401Ala) c.3643C>G (p.Pro1215Ala) c.1963C>G (p.Pro655Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108668342C>T | CA413848424 | COL4A5 | c.3628C>T (p.Pro1210Ser) c.3304C>T (p.Pro1102Ser) c.1201C>T (p.Pro401Ser) c.3643C>T (p.Pro1215Ser) c.1963C>T (p.Pro655Ser) | |
| X | g.108668343C>A | CA413848426 | COL4A5 | c.3629C>A (p.Pro1210His) c.3305C>A (p.Pro1102His) c.1202C>A (p.Pro401His) c.3644C>A (p.Pro1215His) c.1964C>A (p.Pro655His) | |
| X | g.108668343C= | CA2450712922 | COL4A5 | c.3629C= (p.Pro1210=) c.3305C= (p.Pro1102=) c.1202C= (p.Pro401=) c.3644C= (p.Pro1215=) c.1964C= (p.Pro655=) | |
| X | g.108668343C>G | CA413848428 | COL4A5 | c.3629C>G (p.Pro1210Arg) c.3305C>G (p.Pro1102Arg) c.1202C>G (p.Pro401Arg) c.3644C>G (p.Pro1215Arg) c.1964C>G (p.Pro655Arg) | |
| X | g.108668343C>T | CA413848429 | COL4A5 | c.3629C>T (p.Pro1210Leu) c.3305C>T (p.Pro1102Leu) c.1202C>T (p.Pro401Leu) c.3644C>T (p.Pro1215Leu) c.1964C>T (p.Pro655Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108668344T>A | CA517922560 | COL4A5 | c.3630T>A (p.Pro1210=) c.3306T>A (p.Pro1102=) c.1203T>A (p.Pro401=) c.3645T>A (p.Pro1215=) c.1965T>A (p.Pro655=) | |
| X | g.108668344T>C | CA517922561 | COL4A5 | c.3630T>C (p.Pro1210=) c.3306T>C (p.Pro1102=) c.1203T>C (p.Pro401=) c.3645T>C (p.Pro1215=) c.1965T>C (p.Pro655=) | |
| X | g.108668344T>G | CA517922562 | COL4A5 | c.3630T>G (p.Pro1210=) c.3306T>G (p.Pro1102=) c.1203T>G (p.Pro401=) c.3645T>G (p.Pro1215=) c.1965T>G (p.Pro655=) | |
| X | g.108668345G>A | CA413848431 | COL4A5 | c.3631G>A (p.Gly1211Arg) c.3307G>A (p.Gly1103Arg) c.1204G>A (p.Gly402Arg) c.3646G>A (p.Gly1216Arg) c.1966G>A (p.Gly656Arg) | |
| X | g.108668345G>C | CA258912 | COL4A5 | c.3631G>C (p.Gly1211Arg) c.3307G>C (p.Gly1103Arg) c.1204G>C (p.Gly402Arg) c.3646G>C (p.Gly1216Arg) c.1966G>C (p.Gly656Arg) | dbSNP |
| X | g.108668345G= | CA2450712923 | COL4A5 | c.3631G= (p.Gly1211=) c.3307G= (p.Gly1103=) c.1204G= (p.Gly402=) c.3646G= (p.Gly1216=) c.1966G= (p.Gly656=) | |
| X | g.108668345G>T | CA413848430 | COL4A5 | c.3631G>T (p.Gly1211Trp) c.3307G>T (p.Gly1103Trp) c.1204G>T (p.Gly402Trp) c.3646G>T (p.Gly1216Trp) c.1966G>T (p.Gly656Trp) | |
| X | g.108668346G>A | CA258914 | COL4A5 | c.3632G>A (p.Gly1211Glu) c.3308G>A (p.Gly1103Glu) c.1205G>A (p.Gly402Glu) c.3647G>A (p.Gly1216Glu) c.1967G>A (p.Gly656Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108668346G>C | CA413848433 | COL4A5 | c.3632G>C (p.Gly1211Ala) c.3308G>C (p.Gly1103Ala) c.1205G>C (p.Gly402Ala) c.3647G>C (p.Gly1216Ala) c.1967G>C (p.Gly656Ala) | |
| X | g.108668346G= | CA2450712924 | COL4A5 | c.3632G= (p.Gly1211=) c.3308G= (p.Gly1103=) c.1205G= (p.Gly402=) c.3647G= (p.Gly1216=) c.1967G= (p.Gly656=) | |
| X | g.108668346G>T | CA413848435 | COL4A5 | c.3632G>T (p.Gly1211Val) c.3308G>T (p.Gly1103Val) c.1205G>T (p.Gly402Val) c.3647G>T (p.Gly1216Val) c.1967G>T (p.Gly656Val) | |
| X | g.108668347G>A | CA517922565 | COL4A5 | c.3633G>A (p.Gly1211=) c.3309G>A (p.Gly1103=) c.1206G>A (p.Gly402=) c.3648G>A (p.Gly1216=) c.1968G>A (p.Gly656=) | |
| X | g.108668347G>C | CA517922564 | COL4A5 | c.3633G>C (p.Gly1211=) c.3309G>C (p.Gly1103=) c.1206G>C (p.Gly402=) c.3648G>C (p.Gly1216=) c.1968G>C (p.Gly656=) | |
| X | g.108668347G>T | CA517922563 | COL4A5 | c.3633G>T (p.Gly1211=) c.3309G>T (p.Gly1103=) c.1206G>T (p.Gly402=) c.3648G>T (p.Gly1216=) c.1968G>T (p.Gly656=) | |
| X | g.108668348A>C | CA413848437 | COL4A5 | c.3634A>C (p.Ile1212Leu) c.3310A>C (p.Ile1104Leu) c.1207A>C (p.Ile403Leu) c.3649A>C (p.Ile1217Leu) c.1969A>C (p.Ile657Leu) |