UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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) | |
| X | g.108668348A>G | CA413848439 | COL4A5 | c.3634A>G (p.Ile1212Val) c.3310A>G (p.Ile1104Val) c.1207A>G (p.Ile403Val) c.3649A>G (p.Ile1217Val) c.1969A>G (p.Ile657Val) | |
| X | g.108668348A>T | CA413848440 | COL4A5 | c.3634A>T (p.Ile1212Phe) c.3310A>T (p.Ile1104Phe) c.1207A>T (p.Ile403Phe) c.3649A>T (p.Ile1217Phe) c.1969A>T (p.Ile657Phe) | |
| X | g.108668348dup | CA2573055065 | COL4A5 | c.3634dup (p.Ile1212AsnfsTer?) c.3310dup (p.Ile1104AsnfsTer?) c.1207dup (p.Ile403AsnfsTer?) c.3649dup (p.Ile1217AsnfsTer?) c.1969dup (p.Ile657AsnfsTer?) | ClinVar dbSNP |
| X | g.108668349T>A | CA413848444 | COL4A5 | c.3635T>A (p.Ile1212Asn) c.3311T>A (p.Ile1104Asn) c.1208T>A (p.Ile403Asn) c.3650T>A (p.Ile1217Asn) c.1970T>A (p.Ile657Asn) | |
| X | g.108668349T>C | CA413848446 | COL4A5 | c.3635T>C (p.Ile1212Thr) c.3311T>C (p.Ile1104Thr) c.1208T>C (p.Ile403Thr) c.3650T>C (p.Ile1217Thr) c.1970T>C (p.Ile657Thr) | |
| X | g.108668349T>G | CA413848448 | COL4A5 | c.3635T>G (p.Ile1212Ser) c.3311T>G (p.Ile1104Ser) c.1208T>G (p.Ile403Ser) c.3650T>G (p.Ile1217Ser) c.1970T>G (p.Ile657Ser) | |
| X | g.108668350T>A | CA517922566 | COL4A5 | c.3636T>A (p.Ile1212=) c.3312T>A (p.Ile1104=) c.1209T>A (p.Ile403=) c.3651T>A (p.Ile1217=) c.1971T>A (p.Ile657=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108668350T>C | CA517922567 | COL4A5 | c.3636T>C (p.Ile1212=) c.3312T>C (p.Ile1104=) c.1209T>C (p.Ile403=) c.3651T>C (p.Ile1217=) c.1971T>C (p.Ile657=) | |
| X | g.108668350T>G | CA413848450 | COL4A5 | c.3636T>G (p.Ile1212Met) c.3312T>G (p.Ile1104Met) c.1209T>G (p.Ile403Met) c.3651T>G (p.Ile1217Met) c.1971T>G (p.Ile657Met) | |
| X | g.108668350T= | CA2450712925 | COL4A5 | c.3636T= (p.Ile1212=) c.3312T= (p.Ile1104=) c.1209T= (p.Ile403=) c.3651T= (p.Ile1217=) c.1971T= (p.Ile657=) | |
| X | g.108668351C>A | CA413848452 | COL4A5 | c.3637C>A (p.Pro1213Thr) c.3313C>A (p.Pro1105Thr) c.1210C>A (p.Pro404Thr) c.3652C>A (p.Pro1218Thr) c.1972C>A (p.Pro658Thr) | gnomAD v4 |
| X | g.108668351C= | CA2450712926 | COL4A5 | c.3637C= (p.Pro1213=) c.3313C= (p.Pro1105=) c.1210C= (p.Pro404=) c.3652C= (p.Pro1218=) c.1972C= (p.Pro658=) | |
| X | g.108668351C>G | CA413848454 | COL4A5 | c.3637C>G (p.Pro1213Ala) c.3313C>G (p.Pro1105Ala) c.1210C>G (p.Pro404Ala) c.3652C>G (p.Pro1218Ala) c.1972C>G (p.Pro658Ala) | |
| X | g.108668351C>T | CA334046734 | COL4A5 | c.3637C>T (p.Pro1213Ser) c.3313C>T (p.Pro1105Ser) c.1210C>T (p.Pro404Ser) c.3652C>T (p.Pro1218Ser) c.1972C>T (p.Pro658Ser) | dbSNP |
| X | g.108668352C>A | CA413848456 | COL4A5 | c.3638C>A (p.Pro1213Gln) c.3314C>A (p.Pro1105Gln) c.1211C>A (p.Pro404Gln) c.3653C>A (p.Pro1218Gln) c.1973C>A (p.Pro658Gln) | |
| X | g.108668352C= | CA2450712927 | COL4A5 | c.3638C= (p.Pro1213=) c.3314C= (p.Pro1105=) c.1211C= (p.Pro404=) c.3653C= (p.Pro1218=) c.1973C= (p.Pro658=) | |
| X | g.108668352C>G | CA413848460 | COL4A5 | c.3638C>G (p.Pro1213Arg) c.3314C>G (p.Pro1105Arg) c.1211C>G (p.Pro404Arg) c.3653C>G (p.Pro1218Arg) c.1973C>G (p.Pro658Arg) | |
| X | g.108668352C>T | CA334046735 | COL4A5 | c.3638C>T (p.Pro1213Leu) c.3314C>T (p.Pro1105Leu) c.1211C>T (p.Pro404Leu) c.3653C>T (p.Pro1218Leu) c.1973C>T (p.Pro658Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108668353A>C | CA517922568 | COL4A5 | c.3639A>C (p.Pro1213=) c.3315A>C (p.Pro1105=) c.1212A>C (p.Pro404=) c.3654A>C (p.Pro1218=) c.1974A>C (p.Pro658=) | gnomAD v4 |
| X | g.108668353A>G | CA517922569 | COL4A5 | c.3639A>G (p.Pro1213=) c.3315A>G (p.Pro1105=) c.1212A>G (p.Pro404=) c.3654A>G (p.Pro1218=) c.1974A>G (p.Pro658=) | gnomAD v4 |
| X | g.108668353A>T | CA517922570 | COL4A5 | c.3639A>T (p.Pro1213=) c.3315A>T (p.Pro1105=) c.1212A>T (p.Pro404=) c.3654A>T (p.Pro1218=) c.1974A>T (p.Pro658=) | |
| X | g.108668354G>A | CA413848463 | COL4A5 | c.3640G>A (p.Gly1214Arg) c.3316G>A (p.Gly1106Arg) c.1213G>A (p.Gly405Arg) c.3655G>A (p.Gly1219Arg) c.1975G>A (p.Gly659Arg) | ClinVar dbSNP |
| X | g.108668354G>C | CA413848465 | COL4A5 | c.3640G>C (p.Gly1214Arg) c.3316G>C (p.Gly1106Arg) c.1213G>C (p.Gly405Arg) c.3655G>C (p.Gly1219Arg) c.1975G>C (p.Gly659Arg) | |
| X | g.108668354G>T | CA413848464 | COL4A5 | c.3640G>T (p.Gly1214Ter) c.3316G>T (p.Gly1106Ter) c.1213G>T (p.Gly405Ter) c.3655G>T (p.Gly1219Ter) c.1975G>T (p.Gly659Ter) | |
| X | g.108668355G>A | CA258916 | COL4A5 | c.3641G>A (p.Gly1214Glu) c.3317G>A (p.Gly1106Glu) c.1214G>A (p.Gly405Glu) c.3656G>A (p.Gly1219Glu) c.1976G>A (p.Gly659Glu) | dbSNP |
| X | g.108668355G>C | CA413848470 | COL4A5 | c.3641G>C (p.Gly1214Ala) c.3317G>C (p.Gly1106Ala) c.1214G>C (p.Gly405Ala) c.3656G>C (p.Gly1219Ala) c.1976G>C (p.Gly659Ala) | |
| X | g.108668355G= | CA2450712928 | COL4A5 | c.3641G= (p.Gly1214=) c.3317G= (p.Gly1106=) c.1214G= (p.Gly405=) c.3656G= (p.Gly1219=) c.1976G= (p.Gly659=) | |
| X | g.108668355G>T | CA413848468 | COL4A5 | c.3641G>T (p.Gly1214Val) c.3317G>T (p.Gly1106Val) c.1214G>T (p.Gly405Val) c.3656G>T (p.Gly1219Val) c.1976G>T (p.Gly659Val) | |
| X | g.108668356A>C | CA517922571 | COL4A5 | c.3642A>C (p.Gly1214=) c.3318A>C (p.Gly1106=) c.1215A>C (p.Gly405=) c.3657A>C (p.Gly1219=) c.1977A>C (p.Gly659=) | |
| X | g.108668356A>G | CA517922572 | COL4A5 | c.3642A>G (p.Gly1214=) c.3318A>G (p.Gly1106=) c.1215A>G (p.Gly405=) c.3657A>G (p.Gly1219=) c.1977A>G (p.Gly659=) | |
| X | g.108668356A>T | CA517922573 | COL4A5 | c.3642A>T (p.Gly1214=) c.3318A>T (p.Gly1106=) c.1215A>T (p.Gly405=) c.3657A>T (p.Gly1219=) c.1977A>T (p.Gly659=) | |
| X | g.108668357A= | CA2450712929 | COL4A5 | c.3643A= (p.Asn1215=) c.3319A= (p.Asn1107=) c.1216A= (p.Asn406=) c.3658A= (p.Asn1220=) c.1978A= (p.Asn660=) | |
| X | g.108668357A>C | CA413848473 | COL4A5 | c.3643A>C (p.Asn1215His) c.3319A>C (p.Asn1107His) c.1216A>C (p.Asn406His) c.3658A>C (p.Asn1220His) c.1978A>C (p.Asn660His) | |
| X | g.108668357A>G | CA413848476 | COL4A5 | c.3643A>G (p.Asn1215Asp) c.3319A>G (p.Asn1107Asp) c.1216A>G (p.Asn406Asp) c.3658A>G (p.Asn1220Asp) c.1978A>G (p.Asn660Asp) | dbSNP |
| X | g.108668357A>T | CA413848474 | COL4A5 | c.3643A>T (p.Asn1215Tyr) c.3319A>T (p.Asn1107Tyr) c.1216A>T (p.Asn406Tyr) c.3658A>T (p.Asn1220Tyr) c.1978A>T (p.Asn660Tyr) | |
| X | g.108668358A>C | CA413848479 | COL4A5 | c.3644A>C (p.Asn1215Thr) c.3320A>C (p.Asn1107Thr) c.1217A>C (p.Asn406Thr) c.3659A>C (p.Asn1220Thr) c.1979A>C (p.Asn660Thr) | |
| X | g.108668358A>G | CA413848480 | COL4A5 | c.3644A>G (p.Asn1215Ser) c.3320A>G (p.Asn1107Ser) c.1217A>G (p.Asn406Ser) c.3659A>G (p.Asn1220Ser) c.1979A>G (p.Asn660Ser) | |
| X | g.108668358A>T | CA413848483 | COL4A5 | c.3644A>T (p.Asn1215Ile) c.3320A>T (p.Asn1107Ile) c.1217A>T (p.Asn406Ile) c.3659A>T (p.Asn1220Ile) c.1979A>T (p.Asn660Ile) | |
| X | g.108668359T>A | CA413848485 | COL4A5 | c.3645T>A (p.Asn1215Lys) c.3321T>A (p.Asn1107Lys) c.1218T>A (p.Asn406Lys) c.3660T>A (p.Asn1220Lys) c.1980T>A (p.Asn660Lys) | |
| X | g.108668359T>C | CA517922574 | COL4A5 | c.3645T>C (p.Asn1215=) c.3321T>C (p.Asn1107=) c.1218T>C (p.Asn406=) c.3660T>C (p.Asn1220=) c.1980T>C (p.Asn660=) | |
| X | g.108668359T>G | CA413848486 | COL4A5 | c.3645T>G (p.Asn1215Lys) c.3321T>G (p.Asn1107Lys) c.1218T>G (p.Asn406Lys) c.3660T>G (p.Asn1220Lys) c.1980T>G (p.Asn660Lys) | |
| X | g.108668359_108668360delinsTC | CA2450712930 | COL4A5 | c.3645_3646delinsTC (p.Asn1215=) c.3321_3322delinsTC (p.Asn1107=) c.1218_1219delinsTC (p.Asn406=) c.3660_3661delinsTC (p.Asn1220=) c.1980_1981delinsTC (p.Asn660=) | |
| X | g.108668360C>A | CA413848489 | COL4A5 | c.3646C>A (p.Pro1216Thr) c.3322C>A (p.Pro1108Thr) c.1219C>A (p.Pro407Thr) c.3661C>A (p.Pro1221Thr) c.1981C>A (p.Pro661Thr) | |
| X | g.108668360C= | CA2450712931 | COL4A5 | c.3646C= (p.Pro1216=) c.3322C= (p.Pro1108=) c.1219C= (p.Pro407=) c.3661C= (p.Pro1221=) c.1981C= (p.Pro661=) | |
| X | g.108668360C>G | CA413848491 | COL4A5 | c.3646C>G (p.Pro1216Ala) c.3322C>G (p.Pro1108Ala) c.1219C>G (p.Pro407Ala) c.3661C>G (p.Pro1221Ala) c.1981C>G (p.Pro661Ala) | |
| X | g.108668360C>T | CA10489156 | COL4A5 | c.3646C>T (p.Pro1216Ser) c.3322C>T (p.Pro1108Ser) c.1219C>T (p.Pro407Ser) c.3661C>T (p.Pro1221Ser) c.1981C>T (p.Pro661Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108668361del | CA258919 | COL4A5 | c.3647del (p.Pro1216LeufsTer?) c.3323del (p.Pro1108LeufsTer?) c.1220del (p.Pro407LeufsTer?) c.3662del (p.Pro1221LeufsTer?) c.1982del (p.Pro661LeufsTer?) | dbSNP |
| X | g.108668361C>A | CA413848495 | COL4A5 | c.3647C>A (p.Pro1216His) c.3323C>A (p.Pro1108His) c.1220C>A (p.Pro407His) c.3662C>A (p.Pro1221His) c.1982C>A (p.Pro661His) | |
| X | g.108668361C= | CA2450712932 | COL4A5 | c.3647C= (p.Pro1216=) c.3323C= (p.Pro1108=) c.1220C= (p.Pro407=) c.3662C= (p.Pro1221=) c.1982C= (p.Pro661=) | |
| X | g.108668361C>G | CA413848497 | COL4A5 | c.3647C>G (p.Pro1216Arg) c.3323C>G (p.Pro1108Arg) c.1220C>G (p.Pro407Arg) c.3662C>G (p.Pro1221Arg) c.1982C>G (p.Pro661Arg) | |
| X | g.108668361C>T | CA413848499 | COL4A5 | c.3647C>T (p.Pro1216Leu) c.3323C>T (p.Pro1108Leu) c.1220C>T (p.Pro407Leu) c.3662C>T (p.Pro1221Leu) c.1982C>T (p.Pro661Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668362T>A | CA517922575 | COL4A5 | c.3648T>A (p.Pro1216=) c.3324T>A (p.Pro1108=) c.1221T>A (p.Pro407=) c.3663T>A (p.Pro1221=) c.1983T>A (p.Pro661=) | |
| X | g.108668362T>C | CA517922576 | COL4A5 | c.3648T>C (p.Pro1216=) c.3324T>C (p.Pro1108=) c.1221T>C (p.Pro407=) c.3663T>C (p.Pro1221=) c.1983T>C (p.Pro661=) | |
| X | g.108668362T>G | CA517922577 | COL4A5 | c.3648T>G (p.Pro1216=) c.3324T>G (p.Pro1108=) c.1221T>G (p.Pro407=) c.3663T>G (p.Pro1221=) c.1983T>G (p.Pro661=) | |
| X | g.108668363G>A | CA413848501 | COL4A5 | c.3649G>A (p.Gly1217Ser) c.3325G>A (p.Gly1109Ser) c.1222G>A (p.Gly408Ser) c.3664G>A (p.Gly1222Ser) c.1984G>A (p.Gly662Ser) | |
| X | g.108668363G>C | CA413848504 | COL4A5 | c.3649G>C (p.Gly1217Arg) c.3325G>C (p.Gly1109Arg) c.1222G>C (p.Gly408Arg) c.3664G>C (p.Gly1222Arg) c.1984G>C (p.Gly662Arg) | |
| X | g.108668363G>T | CA413848502 | COL4A5 | c.3649G>T (p.Gly1217Cys) c.3325G>T (p.Gly1109Cys) c.1222G>T (p.Gly408Cys) c.3664G>T (p.Gly1222Cys) c.1984G>T (p.Gly662Cys) | |
| X | g.108668364G>A | CA413848506 | COL4A5 | c.3650G>A (p.Gly1217Asp) c.3326G>A (p.Gly1109Asp) c.1223G>A (p.Gly408Asp) c.3665G>A (p.Gly1222Asp) c.1985G>A (p.Gly662Asp) | ClinVar |
| X | g.108668364G>C | CA413848508 | COL4A5 | c.3650G>C (p.Gly1217Ala) c.3326G>C (p.Gly1109Ala) c.1223G>C (p.Gly408Ala) c.3665G>C (p.Gly1222Ala) c.1985G>C (p.Gly662Ala) | |
| X | g.108668364G= | CA2450712933 | COL4A5 | c.3650G= (p.Gly1217=) c.3326G= (p.Gly1109=) c.1223G= (p.Gly408=) c.3665G= (p.Gly1222=) c.1985G= (p.Gly662=) | |
| X | g.108668364G>T | CA413848510 | COL4A5 | c.3650G>T (p.Gly1217Val) c.3326G>T (p.Gly1109Val) c.1223G>T (p.Gly408Val) c.3665G>T (p.Gly1222Val) c.1985G>T (p.Gly662Val) | |
| X | g.108668365C>A | CA517922578 | COL4A5 | c.3651C>A (p.Gly1217=) c.3327C>A (p.Gly1109=) c.1224C>A (p.Gly408=) c.3666C>A (p.Gly1222=) c.1986C>A (p.Gly662=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108668365C= | CA2450712934 | COL4A5 | c.3651C= (p.Gly1217=) c.3327C= (p.Gly1109=) c.1224C= (p.Gly408=) c.3666C= (p.Gly1222=) c.1986C= (p.Gly662=) | |
| X | g.108668365C>G | CA517922579 | COL4A5 | c.3651C>G (p.Gly1217=) c.3327C>G (p.Gly1109=) c.1224C>G (p.Gly408=) c.3666C>G (p.Gly1222=) c.1986C>G (p.Gly662=) | |
| X | g.108668365C>T | CA517922580 | COL4A5 | c.3651C>T (p.Gly1217=) c.3327C>T (p.Gly1109=) c.1224C>T (p.Gly408=) c.3666C>T (p.Gly1222=) c.1986C>T (p.Gly662=) | |
| X | g.108668366C>A | CA413848512 | COL4A5 | c.3652C>A (p.Leu1218Ile) c.3328C>A (p.Leu1110Ile) c.1225C>A (p.Leu409Ile) c.3667C>A (p.Leu1223Ile) c.1987C>A (p.Leu663Ile) | |
| X | g.108668366C>G | CA413848514 | COL4A5 | c.3652C>G (p.Leu1218Val) c.3328C>G (p.Leu1110Val) c.1225C>G (p.Leu409Val) c.3667C>G (p.Leu1223Val) c.1987C>G (p.Leu663Val) | |
| X | g.108668366C>T | CA413848516 | COL4A5 | c.3652C>T (p.Leu1218Phe) c.3328C>T (p.Leu1110Phe) c.1225C>T (p.Leu409Phe) c.3667C>T (p.Leu1223Phe) c.1987C>T (p.Leu663Phe) | ClinVar dbSNP |
| X | g.108668369_108668394del | CA2697544720 | COL4A5 | c.3655_3680del (p.Pro1219SerfsTer24) c.3331_3356del (p.Pro1111SerfsTer24) c.1228_1253del (p.Pro410SerfsTer24) c.3670_3695del (p.Pro1224SerfsTer24) c.1990_2015del (p.Pro664SerfsTer24) | ClinVar |
| X | g.108668367T>A | CA413848520 | COL4A5 | c.3653T>A (p.Leu1218His) c.3329T>A (p.Leu1110His) c.1226T>A (p.Leu409His) c.3668T>A (p.Leu1223His) c.1988T>A (p.Leu663His) | |
| X | g.108668367T>C | CA413848522 | COL4A5 | c.3653T>C (p.Leu1218Pro) c.3329T>C (p.Leu1110Pro) c.1226T>C (p.Leu409Pro) c.3668T>C (p.Leu1223Pro) c.1988T>C (p.Leu663Pro) | |
| X | g.108668367T>G | CA413848523 | COL4A5 | c.3653T>G (p.Leu1218Arg) c.3329T>G (p.Leu1110Arg) c.1226T>G (p.Leu409Arg) c.3668T>G (p.Leu1223Arg) c.1988T>G (p.Leu663Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668367T= | CA2450712936 | COL4A5 | c.3653T= (p.Leu1218=) c.3329T= (p.Leu1110=) c.1226T= (p.Leu409=) c.3668T= (p.Leu1223=) c.1988T= (p.Leu663=) | |
| 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.108668368T>A | CA517922643 | COL4A5 | c.3654T>A (p.Leu1218=) c.3330T>A (p.Leu1110=) c.1227T>A (p.Leu409=) c.3669T>A (p.Leu1223=) c.1989T>A (p.Leu663=) | |
| X | g.108668368T>C | CA517922645 | COL4A5 | c.3654T>C (p.Leu1218=) c.3330T>C (p.Leu1110=) c.1227T>C (p.Leu409=) c.3669T>C (p.Leu1223=) c.1989T>C (p.Leu663=) | |
| X | g.108668368T>G | CA517922646 | COL4A5 | c.3654T>G (p.Leu1218=) c.3330T>G (p.Leu1110=) c.1227T>G (p.Leu409=) c.3669T>G (p.Leu1223=) c.1989T>G (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.108668369C>A | CA413848529 | COL4A5 | c.3655C>A (p.Pro1219Thr) c.3331C>A (p.Pro1111Thr) c.1228C>A (p.Pro410Thr) c.3670C>A (p.Pro1224Thr) c.1990C>A (p.Pro664Thr) | |
| X | g.108668369C>G | CA413848531 | COL4A5 | c.3655C>G (p.Pro1219Ala) c.3331C>G (p.Pro1111Ala) c.1228C>G (p.Pro410Ala) c.3670C>G (p.Pro1224Ala) c.1990C>G (p.Pro664Ala) | |
| X | g.108668369C>T | CA413848527 | COL4A5 | c.3655C>T (p.Pro1219Ser) c.3331C>T (p.Pro1111Ser) c.1228C>T (p.Pro410Ser) c.3670C>T (p.Pro1224Ser) c.1990C>T (p.Pro664Ser) | COSMIC COSMIC |
| X | g.108668370del | CA2579676917 | COL4A5 | c.3656del (p.Pro1219GlnfsTer?) c.3332del (p.Pro1111GlnfsTer?) c.1229del (p.Pro410GlnfsTer?) c.3671del (p.Pro1224GlnfsTer?) c.1991del (p.Pro664GlnfsTer?) | |
| X | g.108668370C>A | CA413848533 | COL4A5 | c.3656C>A (p.Pro1219Gln) c.3332C>A (p.Pro1111Gln) c.1229C>A (p.Pro410Gln) c.3671C>A (p.Pro1224Gln) c.1991C>A (p.Pro664Gln) | |
| X | g.108668370C>G | CA413848535 | COL4A5 | c.3656C>G (p.Pro1219Arg) c.3332C>G (p.Pro1111Arg) c.1229C>G (p.Pro410Arg) c.3671C>G (p.Pro1224Arg) c.1991C>G (p.Pro664Arg) | |
| X | g.108668370C>T | CA413848538 | COL4A5 | c.3656C>T (p.Pro1219Leu) c.3332C>T (p.Pro1111Leu) c.1229C>T (p.Pro410Leu) c.3671C>T (p.Pro1224Leu) c.1991C>T (p.Pro664Leu) | ClinVar COSMIC COSMIC |
| X | g.108668371A>C | CA517922650 | COL4A5 | c.3657A>C (p.Pro1219=) c.3333A>C (p.Pro1111=) c.1230A>C (p.Pro410=) c.3672A>C (p.Pro1224=) c.1992A>C (p.Pro664=) | |
| X | g.108668371A>G | CA517922652 | COL4A5 | c.3657A>G (p.Pro1219=) c.3333A>G (p.Pro1111=) c.1230A>G (p.Pro410=) c.3672A>G (p.Pro1224=) c.1992A>G (p.Pro664=) | COSMIC COSMIC |
| X | g.108668371A>T | CA517922654 | COL4A5 | c.3657A>T (p.Pro1219=) c.3333A>T (p.Pro1111=) c.1230A>T (p.Pro410=) c.3672A>T (p.Pro1224=) c.1992A>T (p.Pro664=) | |
| X | g.108668372G>A | CA413848541 | COL4A5 | c.3658G>A (p.Gly1220Ser) c.3334G>A (p.Gly1112Ser) c.1231G>A (p.Gly411Ser) c.3673G>A (p.Gly1225Ser) c.1993G>A (p.Gly665Ser) | |
| X | g.108668372G>C | CA413848543 | COL4A5 | c.3658G>C (p.Gly1220Arg) c.3334G>C (p.Gly1112Arg) c.1231G>C (p.Gly411Arg) c.3673G>C (p.Gly1225Arg) c.1993G>C (p.Gly665Arg) | |
| X | g.108668372G>T | CA413848545 | COL4A5 | c.3658G>T (p.Gly1220Cys) c.3334G>T (p.Gly1112Cys) c.1231G>T (p.Gly411Cys) c.3673G>T (p.Gly1225Cys) c.1993G>T (p.Gly665Cys) | |
| X | g.108668373G>A | CA258923 | COL4A5 | c.3659G>A (p.Gly1220Asp) c.3335G>A (p.Gly1112Asp) c.1232G>A (p.Gly411Asp) c.3674G>A (p.Gly1225Asp) c.1994G>A (p.Gly665Asp) | ClinVar dbSNP |
| X | g.108668373G>C | CA413848550 | COL4A5 | c.3659G>C (p.Gly1220Ala) c.3335G>C (p.Gly1112Ala) c.1232G>C (p.Gly411Ala) c.3674G>C (p.Gly1225Ala) c.1994G>C (p.Gly665Ala) | |
| X | g.108668373G= | CA2450712937 | COL4A5 | c.3659G= (p.Gly1220=) c.3335G= (p.Gly1112=) c.1232G= (p.Gly411=) c.3674G= (p.Gly1225=) c.1994G= (p.Gly665=) | |
| X | g.108668373G>T | CA413848553 | COL4A5 | c.3659G>T (p.Gly1220Val) c.3335G>T (p.Gly1112Val) c.1232G>T (p.Gly411Val) c.3674G>T (p.Gly1225Val) c.1994G>T (p.Gly665Val) | ClinVar dbSNP |
| X | g.108668374T>A | CA517922656 | COL4A5 | c.3660T>A (p.Gly1220=) c.3336T>A (p.Gly1112=) c.1233T>A (p.Gly411=) c.3675T>A (p.Gly1225=) c.1995T>A (p.Gly665=) | |
| X | g.108668374T>C | CA517922658 | COL4A5 | c.3660T>C (p.Gly1220=) c.3336T>C (p.Gly1112=) c.1233T>C (p.Gly411=) c.3675T>C (p.Gly1225=) c.1995T>C (p.Gly665=) | |
| X | g.108668374T>G | CA517922660 | COL4A5 | c.3660T>G (p.Gly1220=) c.3336T>G (p.Gly1112=) c.1233T>G (p.Gly411=) c.3675T>G (p.Gly1225=) c.1995T>G (p.Gly665=) | |
| X | g.108668375C>A | CA413848555 | COL4A5 | c.3661C>A (p.Pro1221Thr) c.3337C>A (p.Pro1113Thr) c.1234C>A (p.Pro412Thr) c.3676C>A (p.Pro1226Thr) c.1996C>A (p.Pro666Thr) | |
| X | g.108668375C>G | CA413848558 | COL4A5 | c.3661C>G (p.Pro1221Ala) c.3337C>G (p.Pro1113Ala) c.1234C>G (p.Pro412Ala) c.3676C>G (p.Pro1226Ala) c.1996C>G (p.Pro666Ala) | |
| X | g.108668375C>T | CA413848561 | COL4A5 | c.3661C>T (p.Pro1221Ser) c.3337C>T (p.Pro1113Ser) c.1234C>T (p.Pro412Ser) c.3676C>T (p.Pro1226Ser) c.1996C>T (p.Pro666Ser) | COSMIC COSMIC |
| X | g.108668376C>A | CA413848569 | COL4A5 | c.3662C>A (p.Pro1221Gln) c.3338C>A (p.Pro1113Gln) c.1235C>A (p.Pro412Gln) c.3677C>A (p.Pro1226Gln) c.1997C>A (p.Pro666Gln) | |
| X | g.108668376C= | CA2450712938 | COL4A5 | c.3662C= (p.Pro1221=) c.3338C= (p.Pro1113=) c.1235C= (p.Pro412=) c.3677C= (p.Pro1226=) c.1997C= (p.Pro666=) | |
| X | g.108668376C>G | CA413848564 | COL4A5 | c.3662C>G (p.Pro1221Arg) c.3338C>G (p.Pro1113Arg) c.1235C>G (p.Pro412Arg) c.3677C>G (p.Pro1226Arg) c.1997C>G (p.Pro666Arg) | |
| X | g.108668376C>T | CA334046767 | COL4A5 | c.3662C>T (p.Pro1221Leu) c.3338C>T (p.Pro1113Leu) c.1235C>T (p.Pro412Leu) c.3677C>T (p.Pro1226Leu) c.1997C>T (p.Pro666Leu) | dbSNP |
| X | g.108668377A>C | CA517922662 | COL4A5 | c.3663A>C (p.Pro1221=) c.3339A>C (p.Pro1113=) c.1236A>C (p.Pro412=) c.3678A>C (p.Pro1226=) c.1998A>C (p.Pro666=) | |
| X | g.108668377A>G | CA517922664 | COL4A5 | c.3663A>G (p.Pro1221=) c.3339A>G (p.Pro1113=) c.1236A>G (p.Pro412=) c.3678A>G (p.Pro1226=) c.1998A>G (p.Pro666=) | gnomAD v4 |
| X | g.108668377A>T | CA517922666 | COL4A5 | c.3663A>T (p.Pro1221=) c.3339A>T (p.Pro1113=) c.1236A>T (p.Pro412=) c.3678A>T (p.Pro1226=) c.1998A>T (p.Pro666=) | |
| X | g.108668378A= | CA2450712939 | COL4A5 | c.3664A= (p.Lys1222=) c.3340A= (p.Lys1114=) c.1237A= (p.Lys413=) c.3679A= (p.Lys1227=) c.1999A= (p.Lys667=) | |
| X | g.108668378A>C | CA413848573 | COL4A5 | c.3664A>C (p.Lys1222Gln) c.3340A>C (p.Lys1114Gln) c.1237A>C (p.Lys413Gln) c.3679A>C (p.Lys1227Gln) c.1999A>C (p.Lys667Gln) | gnomAD v4 |
| X | g.108668378A>G | CA413848576 | COL4A5 | c.3664A>G (p.Lys1222Glu) c.3340A>G (p.Lys1114Glu) c.1237A>G (p.Lys413Glu) c.3679A>G (p.Lys1227Glu) c.1999A>G (p.Lys667Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108668378A>T | CA413848579 | COL4A5 | c.3664A>T (p.Lys1222Ter) c.3340A>T (p.Lys1114Ter) c.1237A>T (p.Lys413Ter) c.3679A>T (p.Lys1227Ter) c.1999A>T (p.Lys667Ter) | |
| X | g.108668379A>C | CA413848582 | COL4A5 | c.3665A>C (p.Lys1222Thr) c.3341A>C (p.Lys1114Thr) c.1238A>C (p.Lys413Thr) c.3680A>C (p.Lys1227Thr) c.2000A>C (p.Lys667Thr) | |
| X | g.108668379A>G | CA413848584 | COL4A5 | c.3665A>G (p.Lys1222Arg) c.3341A>G (p.Lys1114Arg) c.1238A>G (p.Lys413Arg) c.3680A>G (p.Lys1227Arg) c.2000A>G (p.Lys667Arg) | |
| X | g.108668379A>T | CA413848587 | COL4A5 | c.3665A>T (p.Lys1222Met) c.3341A>T (p.Lys1114Met) c.1238A>T (p.Lys413Met) c.3680A>T (p.Lys1227Met) c.2000A>T (p.Lys667Met) | |
| X | g.108668380G>A | CA517922667 | COL4A5 | c.3666G>A (p.Lys1222=) c.3342G>A (p.Lys1114=) c.1239G>A (p.Lys413=) c.3681G>A (p.Lys1227=) c.2001G>A (p.Lys667=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108668380G>C | CA413848591 | COL4A5 | c.3666G>C (p.Lys1222Asn) c.3342G>C (p.Lys1114Asn) c.1239G>C (p.Lys413Asn) c.3681G>C (p.Lys1227Asn) c.2001G>C (p.Lys667Asn) | |
| X | g.108668380G= | CA2450712940 | COL4A5 | c.3666G= (p.Lys1222=) c.3342G= (p.Lys1114=) c.1239G= (p.Lys413=) c.3681G= (p.Lys1227=) c.2001G= (p.Lys667=) | |
| X | g.108668380G>T | CA413848593 | COL4A5 | c.3666G>T (p.Lys1222Asn) c.3342G>T (p.Lys1114Asn) c.1239G>T (p.Lys413Asn) c.3681G>T (p.Lys1227Asn) c.2001G>T (p.Lys667Asn) | |
| X | g.108668381G>A | CA413848597 | COL4A5 | c.3667G>A (p.Gly1223Ser) c.3343G>A (p.Gly1115Ser) c.1240G>A (p.Gly414Ser) c.3682G>A (p.Gly1228Ser) c.2002G>A (p.Gly668Ser) | COSMIC COSMIC |
| X | g.108668381G>C | CA413848598 | COL4A5 | c.3667G>C (p.Gly1223Arg) c.3343G>C (p.Gly1115Arg) c.1240G>C (p.Gly414Arg) c.3682G>C (p.Gly1228Arg) c.2002G>C (p.Gly668Arg) | |
| X | g.108668381G>T | CA413848601 | COL4A5 | c.3667G>T (p.Gly1223Cys) c.3343G>T (p.Gly1115Cys) c.1240G>T (p.Gly414Cys) c.3682G>T (p.Gly1228Cys) c.2002G>T (p.Gly668Cys) | |
| X | g.108668382G>A | CA413848611 | COL4A5 | c.3668G>A (p.Gly1223Asp) c.3344G>A (p.Gly1115Asp) c.1241G>A (p.Gly414Asp) c.3683G>A (p.Gly1228Asp) c.2003G>A (p.Gly668Asp) | ClinVar dbSNP |
| X | g.108668382G>C | CA413848607 | COL4A5 | c.3668G>C (p.Gly1223Ala) c.3344G>C (p.Gly1115Ala) c.1241G>C (p.Gly414Ala) c.3683G>C (p.Gly1228Ala) c.2003G>C (p.Gly668Ala) | |
| X | g.108668382G= | CA2450712941 | COL4A5 | c.3668G= (p.Gly1223=) c.3344G= (p.Gly1115=) c.1241G= (p.Gly414=) c.3683G= (p.Gly1228=) c.2003G= (p.Gly668=) | |
| X | g.108668382G>T | CA258925 | COL4A5 | c.3668G>T (p.Gly1223Val) c.3344G>T (p.Gly1115Val) c.1241G>T (p.Gly414Val) c.3683G>T (p.Gly1228Val) c.2003G>T (p.Gly668Val) | dbSNP |
| X | g.108668383C>A | CA517922668 | COL4A5 | c.3669C>A (p.Gly1223=) c.3345C>A (p.Gly1115=) c.1242C>A (p.Gly414=) c.3684C>A (p.Gly1228=) c.2004C>A (p.Gly668=) | ClinVar |
| X | g.108668383C= | CA2450712942 | COL4A5 | c.3669C= (p.Gly1223=) c.3345C= (p.Gly1115=) c.1242C= (p.Gly414=) c.3684C= (p.Gly1228=) c.2004C= (p.Gly668=) | |
| X | g.108668383C>G | CA517922669 | COL4A5 | c.3669C>G (p.Gly1223=) c.3345C>G (p.Gly1115=) c.1242C>G (p.Gly414=) c.3684C>G (p.Gly1228=) c.2004C>G (p.Gly668=) | |
| X | g.108668383C>T | CA10489157 | COL4A5 | c.3669C>T (p.Gly1223=) c.3345C>T (p.Gly1115=) c.1242C>T (p.Gly414=) c.3684C>T (p.Gly1228=) c.2004C>T (p.Gly668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668384G>A | CA413848622 | COL4A5 | c.3670G>A (p.Glu1224Lys) c.3346G>A (p.Glu1116Lys) c.1243G>A (p.Glu415Lys) c.3685G>A (p.Glu1229Lys) c.2005G>A (p.Glu669Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108668384G>C | CA413848617 | COL4A5 | c.3670G>C (p.Glu1224Gln) c.3346G>C (p.Glu1116Gln) c.1243G>C (p.Glu415Gln) c.3685G>C (p.Glu1229Gln) c.2005G>C (p.Glu669Gln) | |
| X | g.108668384G= | CA2450712943 | COL4A5 | c.3670G= (p.Glu1224=) c.3346G= (p.Glu1116=) c.1243G= (p.Glu415=) c.3685G= (p.Glu1229=) c.2005G= (p.Glu669=) | |
| X | g.108668384G>T | CA413848619 | COL4A5 | c.3670G>T (p.Glu1224Ter) c.3346G>T (p.Glu1116Ter) c.1243G>T (p.Glu415Ter) c.3685G>T (p.Glu1229Ter) c.2005G>T (p.Glu669Ter) | ClinVar dbSNP |
| X | g.108668385A>C | CA413848625 | COL4A5 | c.3671A>C (p.Glu1224Ala) c.3347A>C (p.Glu1116Ala) c.1244A>C (p.Glu415Ala) c.3686A>C (p.Glu1229Ala) c.2006A>C (p.Glu669Ala) | |
| X | g.108668385A>G | CA413848628 | COL4A5 | c.3671A>G (p.Glu1224Gly) c.3347A>G (p.Glu1116Gly) c.1244A>G (p.Glu415Gly) c.3686A>G (p.Glu1229Gly) c.2006A>G (p.Glu669Gly) | |
| X | g.108668385A>T | CA413848630 | COL4A5 | c.3671A>T (p.Glu1224Val) c.3347A>T (p.Glu1116Val) c.1244A>T (p.Glu415Val) c.3686A>T (p.Glu1229Val) c.2006A>T (p.Glu669Val) | |
| X | g.108668386del | CA2739289608 | COL4A5 | c.3672del (p.Glu1224AspfsTer?) c.3348del (p.Glu1116AspfsTer?) c.1245del (p.Glu415AspfsTer?) c.3687del (p.Glu1229AspfsTer?) c.2007del (p.Glu669AspfsTer?) | |
| X | g.108668386A>C | CA413848633 | COL4A5 | c.3672A>C (p.Glu1224Asp) c.3348A>C (p.Glu1116Asp) c.1245A>C (p.Glu415Asp) c.3687A>C (p.Glu1229Asp) c.2007A>C (p.Glu669Asp) | |
| X | g.108668386A>G | CA517922670 | COL4A5 | c.3672A>G (p.Glu1224=) c.3348A>G (p.Glu1116=) c.1245A>G (p.Glu415=) c.3687A>G (p.Glu1229=) c.2007A>G (p.Glu669=) | |
| X | g.108668386A>T | CA413848635 | COL4A5 | c.3672A>T (p.Glu1224Asp) c.3348A>T (p.Glu1116Asp) c.1245A>T (p.Glu415Asp) c.3687A>T (p.Glu1229Asp) c.2007A>T (p.Glu669Asp) | |
| X | g.108668387C>A | CA413848638 | COL4A5 | c.3673C>A (p.Pro1225Thr) c.3349C>A (p.Pro1117Thr) c.1246C>A (p.Pro416Thr) c.3688C>A (p.Pro1230Thr) c.2008C>A (p.Pro670Thr) | |
| X | g.108668387C>G | CA413848641 | COL4A5 | c.3673C>G (p.Pro1225Ala) c.3349C>G (p.Pro1117Ala) c.1246C>G (p.Pro416Ala) c.3688C>G (p.Pro1230Ala) c.2008C>G (p.Pro670Ala) | |
| X | g.108668387C>T | CA413848643 | COL4A5 | c.3673C>T (p.Pro1225Ser) c.3349C>T (p.Pro1117Ser) c.1246C>T (p.Pro416Ser) c.3688C>T (p.Pro1230Ser) c.2008C>T (p.Pro670Ser) | |
| X | g.108668388C>A | CA413848647 | COL4A5 | c.3674C>A (p.Pro1225Gln) c.3350C>A (p.Pro1117Gln) c.1247C>A (p.Pro416Gln) c.3689C>A (p.Pro1230Gln) c.2009C>A (p.Pro670Gln) | |
| X | g.108668388C>G | CA413848650 | COL4A5 | c.3674C>G (p.Pro1225Arg) c.3350C>G (p.Pro1117Arg) c.1247C>G (p.Pro416Arg) c.3689C>G (p.Pro1230Arg) c.2009C>G (p.Pro670Arg) | |
| X | g.108668388C>T | CA413848652 | COL4A5 | c.3674C>T (p.Pro1225Leu) c.3350C>T (p.Pro1117Leu) c.1247C>T (p.Pro416Leu) c.3689C>T (p.Pro1230Leu) c.2009C>T (p.Pro670Leu) | |
| X | g.108668389A>C | CA517922673 | COL4A5 | c.3675A>C (p.Pro1225=) c.3351A>C (p.Pro1117=) c.1248A>C (p.Pro416=) c.3690A>C (p.Pro1230=) c.2010A>C (p.Pro670=) | |
| X | g.108668389A>G | CA517922672 | COL4A5 | c.3675A>G (p.Pro1225=) c.3351A>G (p.Pro1117=) c.1248A>G (p.Pro416=) c.3690A>G (p.Pro1230=) c.2010A>G (p.Pro670=) | |
| X | g.108668389A>T | CA517922671 | COL4A5 | c.3675A>T (p.Pro1225=) c.3351A>T (p.Pro1117=) c.1248A>T (p.Pro416=) c.3690A>T (p.Pro1230=) c.2010A>T (p.Pro670=) | |
| X | g.108668390G>A | CA413848661 | COL4A5 | c.3676G>A (p.Gly1226Ser) c.3352G>A (p.Gly1118Ser) c.1249G>A (p.Gly417Ser) c.3691G>A (p.Gly1231Ser) c.2011G>A (p.Gly671Ser) | |
| X | g.108668390G>C | CA413848656 | COL4A5 | c.3676G>C (p.Gly1226Arg) c.3352G>C (p.Gly1118Arg) c.1249G>C (p.Gly417Arg) c.3691G>C (p.Gly1231Arg) c.2011G>C (p.Gly671Arg) | |
| X | g.108668390G>T | CA413848658 | COL4A5 | c.3676G>T (p.Gly1226Cys) c.3352G>T (p.Gly1118Cys) c.1249G>T (p.Gly417Cys) c.3691G>T (p.Gly1231Cys) c.2011G>T (p.Gly671Cys) | |
| X | g.108668391G>A | CA413848665 | COL4A5 | c.3677G>A (p.Gly1226Asp) c.3353G>A (p.Gly1118Asp) c.1250G>A (p.Gly417Asp) c.3692G>A (p.Gly1231Asp) c.2012G>A (p.Gly671Asp) | |
| X | g.108668391G>C | CA413848666 | COL4A5 | c.3677G>C (p.Gly1226Ala) c.3353G>C (p.Gly1118Ala) c.1250G>C (p.Gly417Ala) c.3692G>C (p.Gly1231Ala) c.2012G>C (p.Gly671Ala) | |
| X | g.108668391G>T | CA413848670 | COL4A5 | c.3677G>T (p.Gly1226Val) c.3353G>T (p.Gly1118Val) c.1250G>T (p.Gly417Val) c.3692G>T (p.Gly1231Val) c.2012G>T (p.Gly671Val) | |
| X | g.108668392C>A | CA517922674 | COL4A5 | c.3678C>A (p.Gly1226=) c.3354C>A (p.Gly1118=) c.1251C>A (p.Gly417=) c.3693C>A (p.Gly1231=) c.2013C>A (p.Gly671=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108668392C= | CA2450712944 | COL4A5 | c.3678C= (p.Gly1226=) c.3354C= (p.Gly1118=) c.1251C= (p.Gly417=) c.3693C= (p.Gly1231=) c.2013C= (p.Gly671=) | |
| X | g.108668392C>G | CA517922675 | COL4A5 | c.3678C>G (p.Gly1226=) c.3354C>G (p.Gly1118=) c.1251C>G (p.Gly417=) c.3693C>G (p.Gly1231=) c.2013C>G (p.Gly671=) | |
| X | g.108668392C>T | CA517922676 | COL4A5 | c.3678C>T (p.Gly1226=) c.3354C>T (p.Gly1118=) c.1251C>T (p.Gly417=) c.3693C>T (p.Gly1231=) c.2013C>T (p.Gly671=) | |
| X | g.108668393T>A | CA413848674 | COL4A5 | c.3679T>A (p.Phe1227Ile) c.3355T>A (p.Phe1119Ile) c.1252T>A (p.Phe418Ile) c.3694T>A (p.Phe1232Ile) c.2014T>A (p.Phe672Ile) | |
| X | g.108668393T>C | CA413848676 | COL4A5 | c.3679T>C (p.Phe1227Leu) c.3355T>C (p.Phe1119Leu) c.1252T>C (p.Phe418Leu) c.3694T>C (p.Phe1232Leu) c.2014T>C (p.Phe672Leu) | |
| X | g.108668393T>G | CA413848677 | COL4A5 | c.3679T>G (p.Phe1227Val) c.3355T>G (p.Phe1119Val) c.1252T>G (p.Phe418Val) c.3694T>G (p.Phe1232Val) c.2014T>G (p.Phe672Val) | gnomAD v4 |
| X | g.108668394T>A | CA413848680 | COL4A5 | c.3680T>A (p.Phe1227Tyr) c.3356T>A (p.Phe1119Tyr) c.1253T>A (p.Phe418Tyr) c.3695T>A (p.Phe1232Tyr) c.2015T>A (p.Phe672Tyr) | |
| X | g.108668394T>C | CA413848683 | COL4A5 | c.3680T>C (p.Phe1227Ser) c.3356T>C (p.Phe1119Ser) c.1253T>C (p.Phe418Ser) c.3695T>C (p.Phe1232Ser) c.2015T>C (p.Phe672Ser) | ClinVar gnomAD v4 |
| X | g.108668394T>G | CA413848684 | COL4A5 | c.3680T>G (p.Phe1227Cys) c.3356T>G (p.Phe1119Cys) c.1253T>G (p.Phe418Cys) c.3695T>G (p.Phe1232Cys) c.2015T>G (p.Phe672Cys) | |
| X | g.108668395T>A | CA413848689 | COL4A5 | c.3681T>A (p.Phe1227Leu) c.3357T>A (p.Phe1119Leu) c.1254T>A (p.Phe418Leu) c.3696T>A (p.Phe1232Leu) c.2016T>A (p.Phe672Leu) | |
| X | g.108668395T>C | CA517922677 | COL4A5 | c.3681T>C (p.Phe1227=) c.3357T>C (p.Phe1119=) c.1254T>C (p.Phe418=) c.3696T>C (p.Phe1232=) c.2016T>C (p.Phe672=) | |
| X | g.108668395T>G | CA413848700 | COL4A5 | c.3681T>G (p.Phe1227Leu) c.3357T>G (p.Phe1119Leu) c.1254T>G (p.Phe418Leu) c.3696T>G (p.Phe1232Leu) c.2016T>G (p.Phe672Leu) | |
| X | g.108668396C>A | CA413848708 | COL4A5 | c.3682C>A (p.His1228Asn) c.3358C>A (p.His1120Asn) c.1255C>A (p.His419Asn) c.3697C>A (p.His1233Asn) c.2017C>A (p.His673Asn) | |
| X | g.108668396C>G | CA413848705 | COL4A5 | c.3682C>G (p.His1228Asp) c.3358C>G (p.His1120Asp) c.1255C>G (p.His419Asp) c.3697C>G (p.His1233Asp) c.2017C>G (p.His673Asp) | |
| X | g.108668396C>T | CA413848703 | COL4A5 | c.3682C>T (p.His1228Tyr) c.3358C>T (p.His1120Tyr) c.1255C>T (p.His419Tyr) c.3697C>T (p.His1233Tyr) c.2017C>T (p.His673Tyr) | gnomAD v4 |
| X | g.108668397A>C | CA413848714 | COL4A5 | c.3683A>C (p.His1228Pro) c.3359A>C (p.His1120Pro) c.1256A>C (p.His419Pro) c.3698A>C (p.His1233Pro) c.2018A>C (p.His673Pro) | |
| X | g.108668397A>G | CA413848716 | COL4A5 | c.3683A>G (p.His1228Arg) c.3359A>G (p.His1120Arg) c.1256A>G (p.His419Arg) c.3698A>G (p.His1233Arg) c.2018A>G (p.His673Arg) | |
| X | g.108668397A>T | CA413848718 | COL4A5 | c.3683A>T (p.His1228Leu) c.3359A>T (p.His1120Leu) c.1256A>T (p.His419Leu) c.3698A>T (p.His1233Leu) c.2018A>T (p.His673Leu) | |
| X | g.108668398C>A | CA413848721 | COL4A5 | c.3684C>A (p.His1228Gln) c.3360C>A (p.His1120Gln) c.1257C>A (p.His419Gln) c.3699C>A (p.His1233Gln) c.2019C>A (p.His673Gln) | |
| X | g.108668398C= | CA2450712945 | COL4A5 | c.3684C= (p.His1228=) c.3360C= (p.His1120=) c.1257C= (p.His419=) c.3699C= (p.His1233=) c.2019C= (p.His673=) | |
| X | g.108668398C>G | CA413848723 | COL4A5 | c.3684C>G (p.His1228Gln) c.3360C>G (p.His1120Gln) c.1257C>G (p.His419Gln) c.3699C>G (p.His1233Gln) c.2019C>G (p.His673Gln) | |
| X | g.108668398C>T | CA10489158 | COL4A5 | c.3684C>T (p.His1228=) c.3360C>T (p.His1120=) c.1257C>T (p.His419=) c.3699C>T (p.His1233=) c.2019C>T (p.His673=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108668399G>A | CA413848729 | COL4A5 | c.3685G>A (p.Gly1229Ser) c.3361G>A (p.Gly1121Ser) c.1258G>A (p.Gly420Ser) c.3700G>A (p.Gly1234Ser) c.2020G>A (p.Gly674Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108668399G>C | CA413848731 | COL4A5 | c.3685G>C (p.Gly1229Arg) c.3361G>C (p.Gly1121Arg) c.1258G>C (p.Gly420Arg) c.3700G>C (p.Gly1234Arg) c.2020G>C (p.Gly674Arg) | |
| X | g.108668399G= | CA2450712946 | COL4A5 | c.3685G= (p.Gly1229=) c.3361G= (p.Gly1121=) c.1258G= (p.Gly420=) c.3700G= (p.Gly1234=) c.2020G= (p.Gly674=) | |
| X | g.108668399G>T | CA413848734 | COL4A5 | c.3685G>T (p.Gly1229Cys) c.3361G>T (p.Gly1121Cys) c.1258G>T (p.Gly420Cys) c.3700G>T (p.Gly1234Cys) c.2020G>T (p.Gly674Cys) | |
| X | g.108668400G>A | CA258928 | COL4A5 | c.3686G>A (p.Gly1229Asp) c.3362G>A (p.Gly1121Asp) c.1259G>A (p.Gly420Asp) c.3701G>A (p.Gly1234Asp) c.2021G>A (p.Gly674Asp) | ClinVar dbSNP |
| X | g.108668400G>C | CA413848739 | COL4A5 | c.3686G>C (p.Gly1229Ala) c.3362G>C (p.Gly1121Ala) c.1259G>C (p.Gly420Ala) c.3701G>C (p.Gly1234Ala) c.2021G>C (p.Gly674Ala) | ClinVar dbSNP |
| X | g.108668400G= | CA2450712947 | COL4A5 | c.3686G= (p.Gly1229=) c.3362G= (p.Gly1121=) c.1259G= (p.Gly420=) c.3701G= (p.Gly1234=) c.2021G= (p.Gly674=) | |
| X | g.108668400G>T | CA413848741 | COL4A5 | c.3686G>T (p.Gly1229Val) c.3362G>T (p.Gly1121Val) c.1259G>T (p.Gly420Val) c.3701G>T (p.Gly1234Val) c.2021G>T (p.Gly674Val) | ClinVar dbSNP |
| X | g.108668401T>A | CA517922678 | COL4A5 | c.3687T>A (p.Gly1229=) c.3363T>A (p.Gly1121=) c.1260T>A (p.Gly420=) c.3702T>A (p.Gly1234=) c.2022T>A (p.Gly674=) | |
| X | g.108668401T>C | CA517922679 | COL4A5 | c.3687T>C (p.Gly1229=) c.3363T>C (p.Gly1121=) c.1260T>C (p.Gly420=) c.3702T>C (p.Gly1234=) c.2022T>C (p.Gly674=) | |
| X | g.108668401T>G | CA517922680 | COL4A5 | c.3687T>G (p.Gly1229=) c.3363T>G (p.Gly1121=) c.1260T>G (p.Gly420=) c.3702T>G (p.Gly1234=) c.2022T>G (p.Gly674=) | |
| X | g.108668403dup | CA2573131715 | COL4A5 | c.3689dup (p.Gly1232TrpfsTer20) c.3365dup (p.Gly1124TrpfsTer20) c.1262dup (p.Gly423TrpfsTer20) c.3704dup (p.Gly1237TrpfsTer20) c.2024dup (p.Gly677TrpfsTer20) | |
| X | g.108668402T>A | CA413848751 | COL4A5 | c.3688T>A (p.Phe1230Ile) c.3364T>A (p.Phe1122Ile) c.1261T>A (p.Phe421Ile) c.3703T>A (p.Phe1235Ile) c.2023T>A (p.Phe675Ile) | |
| X | g.108668402T>C | CA413848748 | COL4A5 | c.3688T>C (p.Phe1230Leu) c.3364T>C (p.Phe1122Leu) c.1261T>C (p.Phe421Leu) c.3703T>C (p.Phe1235Leu) c.2023T>C (p.Phe675Leu) | |
| X | g.108668402T>G | CA413848745 | COL4A5 | c.3688T>G (p.Phe1230Val) c.3364T>G (p.Phe1122Val) c.1261T>G (p.Phe421Val) c.3703T>G (p.Phe1235Val) c.2023T>G (p.Phe675Val) | |
| X | g.108668403T>A | CA413848755 | COL4A5 | c.3689T>A (p.Phe1230Tyr) c.3365T>A (p.Phe1122Tyr) c.1262T>A (p.Phe421Tyr) c.3704T>A (p.Phe1235Tyr) c.2024T>A (p.Phe675Tyr) | |
| X | g.108668403T>C | CA413848758 | COL4A5 | c.3689T>C (p.Phe1230Ser) c.3365T>C (p.Phe1122Ser) c.1262T>C (p.Phe421Ser) c.3704T>C (p.Phe1235Ser) c.2024T>C (p.Phe675Ser) | |
| X | g.108668403T>G | CA413848761 | COL4A5 | c.3689T>G (p.Phe1230Cys) c.3365T>G (p.Phe1122Cys) c.1262T>G (p.Phe421Cys) c.3704T>G (p.Phe1235Cys) c.2024T>G (p.Phe675Cys) | |
| X | g.108668403_108668404delinsTC | CA2450712948 | COL4A5 | c.3689_3690delinsTC (p.Phe1230=) c.3365_3366delinsTC (p.Phe1122=) c.1262_1263delinsTC (p.Phe421=) c.3704_3705delinsTC (p.Phe1235=) c.2024_2025delinsTC (p.Phe675=) | |
| X | g.108668404C>A | CA413848764 | COL4A5 | c.3690C>A (p.Phe1230Leu) c.3366C>A (p.Phe1122Leu) c.1263C>A (p.Phe421Leu) c.3705C>A (p.Phe1235Leu) c.2025C>A (p.Phe675Leu) | |
| X | g.108668404C>G | CA413848766 | COL4A5 | c.3690C>G (p.Phe1230Leu) c.3366C>G (p.Phe1122Leu) c.1263C>G (p.Phe421Leu) c.3705C>G (p.Phe1235Leu) c.2025C>G (p.Phe675Leu) | |
| X | g.108668404C>T | CA517922681 | COL4A5 | c.3690C>T (p.Phe1230=) c.3366C>T (p.Phe1122=) c.1263C>T (p.Phe421=) c.3705C>T (p.Phe1235=) c.2025C>T (p.Phe675=) | COSMIC COSMIC |
| 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) | |
| X | g.108668417G>C | CA413848832 | COL4A5 | c.3703G>C (p.Gly1235Arg) c.3379G>C (p.Gly1127Arg) c.1276G>C (p.Gly426Arg) c.3718G>C (p.Gly1240Arg) c.2038G>C (p.Gly680Arg) | |
| X | g.108668417G>T | CA413848834 | COL4A5 | c.3703G>T (p.Gly1235Cys) c.3379G>T (p.Gly1127Cys) c.1276G>T (p.Gly426Cys) c.3718G>T (p.Gly1240Cys) c.2038G>T (p.Gly680Cys) | ClinVar dbSNP |
| X | g.108668418G>A | CA413848838 | COL4A5 | c.3704G>A (p.Gly1235Asp) c.3380G>A (p.Gly1127Asp) c.1277G>A (p.Gly426Asp) c.3719G>A (p.Gly1240Asp) c.2039G>A (p.Gly680Asp) | |
| X | g.108668418G>C | CA413848840 | COL4A5 | c.3704G>C (p.Gly1235Ala) c.3380G>C (p.Gly1127Ala) c.1277G>C (p.Gly426Ala) c.3719G>C (p.Gly1240Ala) c.2039G>C (p.Gly680Ala) | ClinVar |
| X | g.108668418G= | CA2450712955 | COL4A5 | c.3704G= (p.Gly1235=) c.3380G= (p.Gly1127=) c.1277G= (p.Gly426=) c.3719G= (p.Gly1240=) c.2039G= (p.Gly680=) | |
| X | g.108668418G>T | CA413848843 | COL4A5 | c.3704G>T (p.Gly1235Val) c.3380G>T (p.Gly1127Val) c.1277G>T (p.Gly426Val) c.3719G>T (p.Gly1240Val) c.2039G>T (p.Gly680Val) | ClinVar dbSNP |
| X | g.108668419T>A | CA517922692 | COL4A5 | c.3705T>A (p.Gly1235=) c.3381T>A (p.Gly1127=) c.1278T>A (p.Gly426=) c.3720T>A (p.Gly1240=) c.2040T>A (p.Gly680=) | |
| X | g.108668419T>C | CA517922693 | COL4A5 | c.3705T>C (p.Gly1235=) c.3381T>C (p.Gly1127=) c.1278T>C (p.Gly426=) c.3720T>C (p.Gly1240=) c.2040T>C (p.Gly680=) | |
| X | g.108668419T>G | CA517922694 | COL4A5 | c.3705T>G (p.Gly1235=) c.3381T>G (p.Gly1127=) c.1278T>G (p.Gly426=) c.3720T>G (p.Gly1240=) c.2040T>G (p.Gly680=) | |
| X | g.108668419T= | CA2450712956 | COL4A5 | c.3705T= (p.Gly1235=) c.3381T= (p.Gly1127=) c.1278T= (p.Gly426=) c.3720T= (p.Gly1240=) c.2040T= (p.Gly680=) | |
| X | g.108668419_108668436delinsTCCCCCAGGCCCTCCTGG | CA2450712957 | COL4A5 | c.3705_3722delinsTCCCCCAGGCCCTCCTGG (p.Gly1235=) c.3381_3398delinsTCCCCCAGGCCCTCCTGG (p.Gly1127=) c.1278_1295delinsTCCCCCAGGCCCTCCTGG (p.Gly426=) c.3720_3737delinsTCCCCCAGGCCCTCCTGG (p.Gly1240=) c.2040_2057delinsTCCCCCAGGCCCTCCTGG (p.Gly680=) | |
| X | g.108668420C>A | CA413848856 | COL4A5 | c.3706C>A (p.Pro1236Thr) c.3382C>A (p.Pro1128Thr) c.1279C>A (p.Pro427Thr) c.3721C>A (p.Pro1241Thr) c.2041C>A (p.Pro681Thr) | COSMIC COSMIC |
| X | g.108668420C= | CA2450712959 | COL4A5 | c.3706C= (p.Pro1236=) c.3382C= (p.Pro1128=) c.1279C= (p.Pro427=) c.3721C= (p.Pro1241=) c.2041C= (p.Pro681=) | |
| X | g.108668420C>G | CA413848855 | COL4A5 | c.3706C>G (p.Pro1236Ala) c.3382C>G (p.Pro1128Ala) c.1279C>G (p.Pro427Ala) c.3721C>G (p.Pro1241Ala) c.2041C>G (p.Pro681Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.108668420C>T | CA413848852 | COL4A5 | c.3706C>T (p.Pro1236Ser) c.3382C>T (p.Pro1128Ser) c.1279C>T (p.Pro427Ser) c.3721C>T (p.Pro1241Ser) c.2041C>T (p.Pro681Ser) | dbSNP gnomAD v4 |
| X | g.108668423_108668424dup | CA258941 | COL4A5 | c.3709_3710dup (p.Gly1238GlnfsTer?) c.3385_3386dup (p.Gly1130GlnfsTer?) c.1282_1283dup (p.Gly429GlnfsTer?) c.3724_3725dup (p.Gly1243GlnfsTer?) c.2044_2045dup (p.Gly683GlnfsTer?) | dbSNP |
| X | g.108668424del | CA2695235656 | COL4A5 | c.3710del (p.Pro1237GlnfsTer?) c.3386del (p.Pro1129GlnfsTer?) c.1283del (p.Pro428GlnfsTer?) c.3725del (p.Pro1242GlnfsTer?) c.2045del (p.Pro682GlnfsTer?) | |
| X | g.108668420_108668433del | CA2573159109 | COL4A5 | c.3706_3719del (p.Pro1236TrpfsTer11) c.3382_3395del (p.Pro1128TrpfsTer11) c.1279_1292del (p.Pro427TrpfsTer11) c.3721_3734del (p.Pro1241TrpfsTer11) c.2041_2054del (p.Pro681TrpfsTer11) | dbSNP |
| X | g.108668420_108668436delinsT | CA258939 | COL4A5 | c.3706_3722delinsT (p.Pro1236PhefsTer?) c.3382_3398delinsT (p.Pro1128PhefsTer?) c.1279_1295delinsT (p.Pro427PhefsTer?) c.3721_3737delinsT (p.Pro1241PhefsTer?) c.2041_2057delinsT (p.Pro681PhefsTer?) | dbSNP |
| X | g.108668420_108668436delinsTT | CA2695235657 | COL4A5 | c.3706_3722delinsTT (p.Pro1236_Gly1241delinsPhe) c.3382_3398delinsTT (p.Pro1128_Gly1133delinsPhe) c.1279_1295delinsTT (p.Pro427_Gly432delinsPhe) c.3721_3737delinsTT (p.Pro1241_Gly1246delinsPhe) c.2041_2057delinsTT (p.Pro681_Gly686delinsPhe) | |
| X | g.108668420_108668472delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA | CA2450712958 | COL4A5 | c.3706_3758delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1236=) c.3382_3434delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1128=) c.1279_1331delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro427=) c.3721_3773delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1241=) c.2041_2093delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro681=) | |
| X | g.108668421C>A | CA413848859 | COL4A5 | c.3707C>A (p.Pro1236His) c.3383C>A (p.Pro1128His) c.1280C>A (p.Pro427His) c.3722C>A (p.Pro1241His) c.2042C>A (p.Pro681His) | |
| X | g.108668421C>G | CA413848862 | COL4A5 | c.3707C>G (p.Pro1236Arg) c.3383C>G (p.Pro1128Arg) c.1280C>G (p.Pro427Arg) c.3722C>G (p.Pro1241Arg) c.2042C>G (p.Pro681Arg) | |
| X | g.108668421C>T | CA413848865 | COL4A5 | c.3707C>T (p.Pro1236Leu) c.3383C>T (p.Pro1128Leu) c.1280C>T (p.Pro427Leu) c.3722C>T (p.Pro1241Leu) c.2042C>T (p.Pro681Leu) | |
| X | g.108668424_108668475del | CA258940 | COL4A5 | c.3710_3761del (p.Pro1237LeufsTer?) c.3386_3437del (p.Pro1129LeufsTer?) c.1283_1334del (p.Pro428LeufsTer?) c.3725_3776del (p.Pro1242LeufsTer?) c.2045_2096del (p.Pro682LeufsTer?) | dbSNP |
| X | g.108668422C>A | CA517922695 | COL4A5 | c.3708C>A (p.Pro1236=) c.3384C>A (p.Pro1128=) c.1281C>A (p.Pro427=) c.3723C>A (p.Pro1241=) c.2043C>A (p.Pro681=) | |
| X | g.108668422C>G | CA517922696 | COL4A5 | c.3708C>G (p.Pro1236=) c.3384C>G (p.Pro1128=) c.1281C>G (p.Pro427=) c.3723C>G (p.Pro1241=) c.2043C>G (p.Pro681=) | |
| X | g.108668422C>T | CA517922697 | COL4A5 | c.3708C>T (p.Pro1236=) c.3384C>T (p.Pro1128=) c.1281C>T (p.Pro427=) c.3723C>T (p.Pro1241=) c.2043C>T (p.Pro681=) | |
| X | g.108668423C>A | CA413848870 | COL4A5 | c.3709C>A (p.Pro1237Thr) c.3385C>A (p.Pro1129Thr) c.1282C>A (p.Pro428Thr) c.3724C>A (p.Pro1242Thr) c.2044C>A (p.Pro682Thr) | |
| X | g.108668423C>G | CA413848869 | COL4A5 | c.3709C>G (p.Pro1237Ala) c.3385C>G (p.Pro1129Ala) c.1282C>G (p.Pro428Ala) c.3724C>G (p.Pro1242Ala) c.2044C>G (p.Pro682Ala) | |
| X | g.108668423C>T | CA413848872 | COL4A5 | c.3709C>T (p.Pro1237Ser) c.3385C>T (p.Pro1129Ser) c.1282C>T (p.Pro428Ser) c.3724C>T (p.Pro1242Ser) c.2044C>T (p.Pro682Ser) | COSMIC COSMIC |
| X | g.108668424C>A | CA413848875 | COL4A5 | c.3710C>A (p.Pro1237Gln) c.3386C>A (p.Pro1129Gln) c.1283C>A (p.Pro428Gln) c.3725C>A (p.Pro1242Gln) c.2045C>A (p.Pro682Gln) | |
| X | g.108668424C>G | CA413848878 | COL4A5 | c.3710C>G (p.Pro1237Arg) c.3386C>G (p.Pro1129Arg) c.1283C>G (p.Pro428Arg) c.3725C>G (p.Pro1242Arg) c.2045C>G (p.Pro682Arg) | |
| X | g.108668424C>T | CA413848879 | COL4A5 | c.3710C>T (p.Pro1237Leu) c.3386C>T (p.Pro1129Leu) c.1283C>T (p.Pro428Leu) c.3725C>T (p.Pro1242Leu) c.2045C>T (p.Pro682Leu) | |
| X | g.108668425A>C | CA517922698 | COL4A5 | c.3711A>C (p.Pro1237=) c.3387A>C (p.Pro1129=) c.1284A>C (p.Pro428=) c.3726A>C (p.Pro1242=) c.2046A>C (p.Pro682=) | |
| X | g.108668425A>G | CA517922700 | COL4A5 | c.3711A>G (p.Pro1237=) c.3387A>G (p.Pro1129=) c.1284A>G (p.Pro428=) c.3726A>G (p.Pro1242=) c.2046A>G (p.Pro682=) | gnomAD v4 |
| X | g.108668425A>T | CA517922699 | COL4A5 | c.3711A>T (p.Pro1237=) c.3387A>T (p.Pro1129=) c.1284A>T (p.Pro428=) c.3726A>T (p.Pro1242=) c.2046A>T (p.Pro682=) | |
| X | g.108668426G>A | CA413848883 | COL4A5 | c.3712G>A (p.Gly1238Ser) c.3388G>A (p.Gly1130Ser) c.1285G>A (p.Gly429Ser) c.3727G>A (p.Gly1243Ser) c.2047G>A (p.Gly683Ser) | ClinVar dbSNP |
| X | g.108668426G>C | CA413848886 | COL4A5 | c.3712G>C (p.Gly1238Arg) c.3388G>C (p.Gly1130Arg) c.1285G>C (p.Gly429Arg) c.3727G>C (p.Gly1243Arg) c.2047G>C (p.Gly683Arg) | |
| X | g.108668426G>T | CA413848888 | COL4A5 | c.3712G>T (p.Gly1238Cys) c.3388G>T (p.Gly1130Cys) c.1285G>T (p.Gly429Cys) c.3727G>T (p.Gly1243Cys) c.2047G>T (p.Gly683Cys) | |
| X | g.108668427G>A | CA413848893 | COL4A5 | c.3713G>A (p.Gly1238Asp) c.3389G>A (p.Gly1130Asp) c.1286G>A (p.Gly429Asp) c.3728G>A (p.Gly1243Asp) c.2048G>A (p.Gly683Asp) | ClinVar |
| X | g.108668427G>C | CA413848895 | COL4A5 | c.3713G>C (p.Gly1238Ala) c.3389G>C (p.Gly1130Ala) c.1286G>C (p.Gly429Ala) c.3728G>C (p.Gly1243Ala) c.2048G>C (p.Gly683Ala) | |
| X | g.108668427G>T | CA413848897 | COL4A5 | c.3713G>T (p.Gly1238Val) c.3389G>T (p.Gly1130Val) c.1286G>T (p.Gly429Val) c.3728G>T (p.Gly1243Val) c.2048G>T (p.Gly683Val) | |
| X | g.108668428C>A | CA517922701 | COL4A5 | c.3714C>A (p.Gly1238=) c.3390C>A (p.Gly1130=) c.1287C>A (p.Gly429=) c.3729C>A (p.Gly1243=) c.2049C>A (p.Gly683=) | |
| X | g.108668428C>G | CA517922702 | COL4A5 | c.3714C>G (p.Gly1238=) c.3390C>G (p.Gly1130=) c.1287C>G (p.Gly429=) c.3729C>G (p.Gly1243=) c.2049C>G (p.Gly683=) | |
| X | g.108668428C>T | CA517922703 | COL4A5 | c.3714C>T (p.Gly1238=) c.3390C>T (p.Gly1130=) c.1287C>T (p.Gly429=) c.3729C>T (p.Gly1243=) c.2049C>T (p.Gly683=) | |
| X | g.108668429C>A | CA413848901 | COL4A5 | c.3715C>A (p.Pro1239Thr) c.3391C>A (p.Pro1131Thr) c.1288C>A (p.Pro430Thr) c.3730C>A (p.Pro1244Thr) c.2050C>A (p.Pro684Thr) | |
| X | g.108668429C>G | CA413848903 | COL4A5 | c.3715C>G (p.Pro1239Ala) c.3391C>G (p.Pro1131Ala) c.1288C>G (p.Pro430Ala) c.3730C>G (p.Pro1244Ala) c.2050C>G (p.Pro684Ala) | |
| X | g.108668429C>T | CA413848906 | COL4A5 | c.3715C>T (p.Pro1239Ser) c.3391C>T (p.Pro1131Ser) c.1288C>T (p.Pro430Ser) c.3730C>T (p.Pro1244Ser) c.2050C>T (p.Pro684Ser) | |
| X | g.108668430C>A | CA413848913 | COL4A5 | c.3716C>A (p.Pro1239His) c.3392C>A (p.Pro1131His) c.1289C>A (p.Pro430His) c.3731C>A (p.Pro1244His) c.2051C>A (p.Pro684His) | |
| X | g.108668430C= | CA2450712960 | COL4A5 | c.3716C= (p.Pro1239=) c.3392C= (p.Pro1131=) c.1289C= (p.Pro430=) c.3731C= (p.Pro1244=) c.2051C= (p.Pro684=) | |
| X | g.108668430C>G | CA413848909 | COL4A5 | c.3716C>G (p.Pro1239Arg) c.3392C>G (p.Pro1131Arg) c.1289C>G (p.Pro430Arg) c.3731C>G (p.Pro1244Arg) c.2051C>G (p.Pro684Arg) | |
| X | g.108668430C>T | CA10489159 | COL4A5 | c.3716C>T (p.Pro1239Leu) c.3392C>T (p.Pro1131Leu) c.1289C>T (p.Pro430Leu) c.3731C>T (p.Pro1244Leu) c.2051C>T (p.Pro684Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108668431T>A | CA517922704 | COL4A5 | c.3717T>A (p.Pro1239=) c.3393T>A (p.Pro1131=) c.1290T>A (p.Pro430=) c.3732T>A (p.Pro1244=) c.2052T>A (p.Pro684=) | |
| X | g.108668431T>C | CA517922706 | COL4A5 | c.3717T>C (p.Pro1239=) c.3393T>C (p.Pro1131=) c.1290T>C (p.Pro430=) c.3732T>C (p.Pro1244=) c.2052T>C (p.Pro684=) | |
| X | g.108668431T>G | CA517922705 | COL4A5 | c.3717T>G (p.Pro1239=) c.3393T>G (p.Pro1131=) c.1290T>G (p.Pro430=) c.3732T>G (p.Pro1244=) c.2052T>G (p.Pro684=) | |
| X | g.108668431_108668435dup | CA2695235658 | COL4A5 | c.3717_3721dup (p.Gly1241ValfsTer?) c.3393_3397dup (p.Gly1133ValfsTer?) c.1290_1294dup (p.Gly432ValfsTer?) c.3732_3736dup (p.Gly1246ValfsTer?) c.2052_2056dup (p.Gly686ValfsTer?) | |
| X | g.108668432C>A | CA413848916 | COL4A5 | c.3718C>A (p.Pro1240Thr) c.3394C>A (p.Pro1132Thr) c.1291C>A (p.Pro431Thr) c.3733C>A (p.Pro1245Thr) c.2053C>A (p.Pro685Thr) | |
| X | g.108668432C= | CA2450712961 | COL4A5 | c.3718C= (p.Pro1240=) c.3394C= (p.Pro1132=) c.1291C= (p.Pro431=) c.3733C= (p.Pro1245=) c.2053C= (p.Pro685=) | |
| X | g.108668432C>G | CA413848918 | COL4A5 | c.3718C>G (p.Pro1240Ala) c.3394C>G (p.Pro1132Ala) c.1291C>G (p.Pro431Ala) c.3733C>G (p.Pro1245Ala) c.2053C>G (p.Pro685Ala) | dbSNP |
| X | g.108668432C>T | CA413848919 | COL4A5 | c.3718C>T (p.Pro1240Ser) c.3394C>T (p.Pro1132Ser) c.1291C>T (p.Pro431Ser) c.3733C>T (p.Pro1245Ser) c.2053C>T (p.Pro685Ser) | |
| X | g.108668433C>A | CA413848920 | COL4A5 | c.3719C>A (p.Pro1240His) c.3395C>A (p.Pro1132His) c.1292C>A (p.Pro431His) c.3734C>A (p.Pro1245His) c.2054C>A (p.Pro685His) | |
| X | g.108668433C>G | CA413848921 | COL4A5 | c.3719C>G (p.Pro1240Arg) c.3395C>G (p.Pro1132Arg) c.1292C>G (p.Pro431Arg) c.3734C>G (p.Pro1245Arg) c.2054C>G (p.Pro685Arg) | gnomAD v4 |
| X | g.108668433C>T | CA413848922 | COL4A5 | c.3719C>T (p.Pro1240Leu) c.3395C>T (p.Pro1132Leu) c.1292C>T (p.Pro431Leu) c.3734C>T (p.Pro1245Leu) c.2054C>T (p.Pro685Leu) | |
| X | g.108668434T>A | CA517922707 | COL4A5 | c.3720T>A (p.Pro1240=) c.3396T>A (p.Pro1132=) c.1293T>A (p.Pro431=) c.3735T>A (p.Pro1245=) c.2055T>A (p.Pro685=) | |
| X | g.108668434T>C | CA517922708 | COL4A5 | c.3720T>C (p.Pro1240=) c.3396T>C (p.Pro1132=) c.1293T>C (p.Pro431=) c.3735T>C (p.Pro1245=) c.2055T>C (p.Pro685=) | |
| X | g.108668434T>G | CA517922709 | COL4A5 | c.3720T>G (p.Pro1240=) c.3396T>G (p.Pro1132=) c.1293T>G (p.Pro431=) c.3735T>G (p.Pro1245=) c.2055T>G (p.Pro685=) | |
| X | g.108668435G>A | CA413848924 | COL4A5 | c.3721G>A (p.Gly1241Ser) c.3397G>A (p.Gly1133Ser) c.1294G>A (p.Gly432Ser) c.3736G>A (p.Gly1246Ser) c.2056G>A (p.Gly686Ser) | ClinVar dbSNP |
| X | g.108668435G>C | CA413848926 | COL4A5 | c.3721G>C (p.Gly1241Arg) c.3397G>C (p.Gly1133Arg) c.1294G>C (p.Gly432Arg) c.3736G>C (p.Gly1246Arg) c.2056G>C (p.Gly686Arg) | |
| X | g.108668435G= | CA2450712962 | COL4A5 | c.3721G= (p.Gly1241=) c.3397G= (p.Gly1133=) c.1294G= (p.Gly432=) c.3736G= (p.Gly1246=) c.2056G= (p.Gly686=) | |
| X | g.108668435G>T | CA258942 | COL4A5 | c.3721G>T (p.Gly1241Cys) c.3397G>T (p.Gly1133Cys) c.1294G>T (p.Gly432Cys) c.3736G>T (p.Gly1246Cys) c.2056G>T (p.Gly686Cys) | ClinVar dbSNP |
| X | g.108668436del | CA2695235659 | COL4A5 | c.3722del (p.Gly1241ValfsTer?) c.3398del (p.Gly1133ValfsTer?) c.1295del (p.Gly432ValfsTer?) c.3737del (p.Gly1246ValfsTer?) c.2057del (p.Gly686ValfsTer?) | |
| X | g.108668436G>A | CA413848929 | COL4A5 | c.3722G>A (p.Gly1241Asp) c.3398G>A (p.Gly1133Asp) c.1295G>A (p.Gly432Asp) c.3737G>A (p.Gly1246Asp) c.2057G>A (p.Gly686Asp) | ClinVar dbSNP |
| X | g.108668436G>C | CA413848931 | COL4A5 | c.3722G>C (p.Gly1241Ala) c.3398G>C (p.Gly1133Ala) c.1295G>C (p.Gly432Ala) c.3737G>C (p.Gly1246Ala) c.2057G>C (p.Gly686Ala) | |
| X | g.108668436G= | CA2450712963 | COL4A5 | c.3722G= (p.Gly1241=) c.3398G= (p.Gly1133=) c.1295G= (p.Gly432=) c.3737G= (p.Gly1246=) c.2057G= (p.Gly686=) | |
| X | g.108668436G>T | CA258944 | COL4A5 | c.3722G>T (p.Gly1241Val) c.3398G>T (p.Gly1133Val) c.1295G>T (p.Gly432Val) c.3737G>T (p.Gly1246Val) c.2057G>T (p.Gly686Val) | dbSNP |