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 |
|---|---|---|---|---|---|
| 13 | g.110168320_110172666del | CA2580616537 | COL4A1 | c.3556+54_3877-1090del c.3364+54_3685-1090del | ClinVar |
| 13 | g.110169711T>A | CA388661883 | COL4A1 | c.3794A>T (p.Lys1265Ile) c.3602A>T (p.Lys1201Ile) | |
| 13 | g.110169711T>C | CA388661885 | COL4A1 | c.3794A>G (p.Lys1265Arg) c.3602A>G (p.Lys1201Arg) | |
| 13 | g.110169711T>G | CA388661887 | COL4A1 | c.3794A>C (p.Lys1265Thr) c.3602A>C (p.Lys1201Thr) | dbSNP |
| 13 | g.110169711T= | CA2118732805 | COL4A1 | c.3794A= (p.Lys1265=) c.3602A= (p.Lys1201=) | |
| 13 | g.110169712T>A | CA388661888 | COL4A1 | c.3793A>T (p.Lys1265Ter) c.3601A>T (p.Lys1201Ter) | |
| 13 | g.110169712T>C | CA388661890 | COL4A1 | c.3793A>G (p.Lys1265Glu) c.3601A>G (p.Lys1201Glu) | gnomAD v4 |
| 13 | g.110169712T>G | CA388661891 | COL4A1 | c.3793A>C (p.Lys1265Gln) c.3601A>C (p.Lys1201Gln) | |
| 13 | g.110169713A>C | CA484788769 | COL4A1 | c.3792T>G (p.Val1264=) c.3600T>G (p.Val1200=) | |
| 13 | g.110169713A>G | CA484788770 | COL4A1 | c.3792T>C (p.Val1264=) c.3600T>C (p.Val1200=) | |
| 13 | g.110169713A>T | CA484788771 | COL4A1 | c.3792T>A (p.Val1264=) c.3600T>A (p.Val1200=) | |
| 13 | g.110169714A= | CA2118732807 | COL4A1 | c.3791T= (p.Val1264=) c.3599T= (p.Val1200=) | |
| 13 | g.110169714A>C | CA388661893 | COL4A1 | c.3791T>G (p.Val1264Gly) c.3599T>G (p.Val1200Gly) | dbSNP gnomAD v2 |
| 13 | g.110169714A>G | CA388661897 | COL4A1 | c.3791T>C (p.Val1264Ala) c.3599T>C (p.Val1200Ala) | |
| 13 | g.110169714A>T | CA388661895 | COL4A1 | c.3791T>A (p.Val1264Asp) c.3599T>A (p.Val1200Asp) | |
| 13 | g.110169715C>A | CA388661899 | COL4A1 | c.3790G>T (p.Val1264Phe) c.3598G>T (p.Val1200Phe) | |
| 13 | g.110169715C>G | CA388661900 | COL4A1 | c.3790G>C (p.Val1264Leu) c.3598G>C (p.Val1200Leu) | |
| 13 | g.110169715C>T | CA388661902 | COL4A1 | c.3790G>A (p.Val1264Ile) c.3598G>A (p.Val1200Ile) | |
| 13 | g.110169716T>A | CA484788772 | COL4A1 | c.3789A>T (p.Gly1263=) c.3597A>T (p.Gly1199=) | |
| 13 | g.110169716T>C | CA484788773 | COL4A1 | c.3789A>G (p.Gly1263=) c.3597A>G (p.Gly1199=) | |
| 13 | g.110169716T>G | CA484788774 | COL4A1 | c.3789A>C (p.Gly1263=) c.3597A>C (p.Gly1199=) | |
| 13 | g.110169717C>A | CA388661904 | COL4A1 | c.3788G>T (p.Gly1263Val) c.3596G>T (p.Gly1199Val) | |
| 13 | g.110169717C>G | CA388661906 | COL4A1 | c.3788G>C (p.Gly1263Ala) c.3596G>C (p.Gly1199Ala) | |
| 13 | g.110169717C>T | CA388661908 | COL4A1 | c.3788G>A (p.Gly1263Glu) c.3596G>A (p.Gly1199Glu) | |
| 13 | g.110169718C>A | CA388661910 | COL4A1 | c.3787G>T (p.Gly1263Ter) c.3595G>T (p.Gly1199Ter) | |
| 13 | g.110169718C>G | CA388661912 | COL4A1 | c.3787G>C (p.Gly1263Arg) c.3595G>C (p.Gly1199Arg) | |
| 13 | g.110169718C>T | CA388661914 | COL4A1 | c.3787G>A (p.Gly1263Arg) c.3595G>A (p.Gly1199Arg) | |
| 13 | g.110169719A>C | CA388661916 | COL4A1 | c.3786T>G (p.Asp1262Glu) c.3594T>G (p.Asp1198Glu) | |
| 13 | g.110169719A>G | CA484788775 | COL4A1 | c.3786T>C (p.Asp1262=) c.3594T>C (p.Asp1198=) | |
| 13 | g.110169719A>T | CA388661918 | COL4A1 | c.3786T>A (p.Asp1262Glu) c.3594T>A (p.Asp1198Glu) | |
| 13 | g.110169720T>A | CA388661922 | COL4A1 | c.3785A>T (p.Asp1262Val) c.3593A>T (p.Asp1198Val) | |
| 13 | g.110169720T>C | CA388661924 | COL4A1 | c.3785A>G (p.Asp1262Gly) c.3593A>G (p.Asp1198Gly) | |
| 13 | g.110169720T>G | CA388661920 | COL4A1 | c.3785A>C (p.Asp1262Ala) c.3593A>C (p.Asp1198Ala) | |
| 13 | g.110169721C>A | CA388661926 | COL4A1 | c.3784G>T (p.Asp1262Tyr) c.3592G>T (p.Asp1198Tyr) | |
| 13 | g.110169721C= | CA2118732809 | COL4A1 | c.3784G= (p.Asp1262=) c.3592G= (p.Asp1198=) | |
| 13 | g.110169721C>G | CA7047138 | COL4A1 | c.3784G>C (p.Asp1262His) c.3592G>C (p.Asp1198His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169721C>T | CA388661927 | COL4A1 | c.3784G>A (p.Asp1262Asn) c.3592G>A (p.Asp1198Asn) | |
| 13 | g.110169722A>C | CA388661930 | COL4A1 | c.3783T>G (p.Ile1261Met) c.3591T>G (p.Ile1197Met) | |
| 13 | g.110169722A>G | CA484788777 | COL4A1 | c.3783T>C (p.Ile1261=) c.3591T>C (p.Ile1197=) | |
| 13 | g.110169722A>T | CA484788776 | COL4A1 | c.3783T>A (p.Ile1261=) c.3591T>A (p.Ile1197=) | |
| 13 | g.110169723A>C | CA388661933 | COL4A1 | c.3782T>G (p.Ile1261Ser) c.3590T>G (p.Ile1197Ser) | |
| 13 | g.110169723A>G | CA388661934 | COL4A1 | c.3782T>C (p.Ile1261Thr) c.3590T>C (p.Ile1197Thr) | |
| 13 | g.110169723A>T | CA388661936 | COL4A1 | c.3782T>A (p.Ile1261Asn) c.3590T>A (p.Ile1197Asn) | |
| 13 | g.110169724T>A | CA388661939 | COL4A1 | c.3781A>T (p.Ile1261Phe) c.3589A>T (p.Ile1197Phe) | |
| 13 | g.110169724T>C | CA388661941 | COL4A1 | c.3781A>G (p.Ile1261Val) c.3589A>G (p.Ile1197Val) | |
| 13 | g.110169724T>G | CA388661943 | COL4A1 | c.3781A>C (p.Ile1261Leu) c.3589A>C (p.Ile1197Leu) | |
| 13 | g.110169725C>A | CA484788778 | COL4A1 | c.3780G>T (p.Gly1260=) c.3588G>T (p.Gly1196=) | |
| 13 | g.110169725C>G | CA484788780 | COL4A1 | c.3780G>C (p.Gly1260=) c.3588G>C (p.Gly1196=) | |
| 13 | g.110169725C>T | CA484788779 | COL4A1 | c.3780G>A (p.Gly1260=) c.3588G>A (p.Gly1196=) | gnomAD v4 |
| 13 | g.110169726C>A | CA388661945 | COL4A1 | c.3779G>T (p.Gly1260Val) c.3587G>T (p.Gly1196Val) | COSMIC COSMIC |
| 13 | g.110169726C= | CA2118732814 | COL4A1 | c.3779G= (p.Gly1260=) c.3587G= (p.Gly1196=) | |
| 13 | g.110169726C>G | CA388661949 | COL4A1 | c.3779G>C (p.Gly1260Ala) c.3587G>C (p.Gly1196Ala) | dbSNP |
| 13 | g.110169726C>T | CA388661947 | COL4A1 | c.3779G>A (p.Gly1260Glu) c.3587G>A (p.Gly1196Glu) | COSMIC COSMIC |
| 13 | g.110169727C>A | CA388661951 | COL4A1 | c.3778G>T (p.Gly1260Trp) c.3586G>T (p.Gly1196Trp) | |
| 13 | g.110169727C>G | CA388661953 | COL4A1 | c.3778G>C (p.Gly1260Arg) c.3586G>C (p.Gly1196Arg) | |
| 13 | g.110169727C>T | CA388661955 | COL4A1 | c.3778G>A (p.Gly1260Arg) c.3586G>A (p.Gly1196Arg) | gnomAD v4 |
| 13 | g.110169728A= | CA2118732816 | COL4A1 | c.3777T= (p.Pro1259=) c.3585T= (p.Pro1195=) | |
| 13 | g.110169728A>C | CA484788781 | COL4A1 | c.3777T>G (p.Pro1259=) c.3585T>G (p.Pro1195=) | |
| 13 | g.110169728A>G | CA7047139 | COL4A1 | c.3777T>C (p.Pro1259=) c.3585T>C (p.Pro1195=) | dbSNP ExAC gnomAD v2 |
| 13 | g.110169728A>T | CA484788782 | COL4A1 | c.3777T>A (p.Pro1259=) c.3585T>A (p.Pro1195=) | |
| 13 | g.110169729G>A | CA388661959 | COL4A1 | c.3776C>T (p.Pro1259Leu) c.3584C>T (p.Pro1195Leu) | |
| 13 | g.110169729G>C | CA7047140 | COL4A1 | c.3776C>G (p.Pro1259Arg) c.3584C>G (p.Pro1195Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169729G= | CA2118732819 | COL4A1 | c.3776C= (p.Pro1259=) c.3584C= (p.Pro1195=) | |
| 13 | g.110169729G>T | CA388661960 | COL4A1 | c.3776C>A (p.Pro1259His) c.3584C>A (p.Pro1195His) | |
| 13 | g.110169730G>A | CA388661965 | COL4A1 | c.3775C>T (p.Pro1259Ser) c.3583C>T (p.Pro1195Ser) | gnomAD v4 |
| 13 | g.110169730G>C | CA388661967 | COL4A1 | c.3775C>G (p.Pro1259Ala) c.3583C>G (p.Pro1195Ala) | |
| 13 | g.110169730G>T | CA388661969 | COL4A1 | c.3775C>A (p.Pro1259Thr) c.3583C>A (p.Pro1195Thr) | |
| 13 | g.110169731A= | CA2118732821 | COL4A1 | c.3774T= (p.Leu1258=) c.3582T= (p.Leu1194=) | |
| 13 | g.110169731A>C | CA484788783 | COL4A1 | c.3774T>G (p.Leu1258=) c.3582T>G (p.Leu1194=) | |
| 13 | g.110169731A>G | CA7047141 | COL4A1 | c.3774T>C (p.Leu1258=) c.3582T>C (p.Leu1194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169731A>T | CA484788784 | COL4A1 | c.3774T>A (p.Leu1258=) c.3582T>A (p.Leu1194=) | |
| 13 | g.110169732A>C | CA388661972 | COL4A1 | c.3773T>G (p.Leu1258Arg) c.3581T>G (p.Leu1194Arg) | |
| 13 | g.110169732A>G | CA388661974 | COL4A1 | c.3773T>C (p.Leu1258Pro) c.3581T>C (p.Leu1194Pro) | gnomAD v4 |
| 13 | g.110169732A>T | CA388661976 | COL4A1 | c.3773T>A (p.Leu1258His) c.3581T>A (p.Leu1194His) | |
| 13 | g.110169733G>A | CA388661978 | COL4A1 | c.3772C>T (p.Leu1258Phe) c.3580C>T (p.Leu1194Phe) | |
| 13 | g.110169733G>C | CA388661980 | COL4A1 | c.3772C>G (p.Leu1258Val) c.3580C>G (p.Leu1194Val) | dbSNP gnomAD v4 |
| 13 | g.110169733G= | CA2118732823 | COL4A1 | c.3772C= (p.Leu1258=) c.3580C= (p.Leu1194=) | |
| 13 | g.110169733G>T | CA388661983 | COL4A1 | c.3772C>A (p.Leu1258Ile) c.3580C>A (p.Leu1194Ile) | |
| 13 | g.110169734C>A | CA484788785 | COL4A1 | c.3771G>T (p.Gly1257=) c.3579G>T (p.Gly1193=) | |
| 13 | g.110169734C= | CA2118732828 | COL4A1 | c.3771G= (p.Gly1257=) c.3579G= (p.Gly1193=) | |
| 13 | g.110169734C>G | CA7047142 | COL4A1 | c.3771G>C (p.Gly1257=) c.3579G>C (p.Gly1193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169734C>T | CA484788786 | COL4A1 | c.3771G>A (p.Gly1257=) c.3579G>A (p.Gly1193=) | |
| 13 | g.110169735C>A | CA388661986 | COL4A1 | c.3770G>T (p.Gly1257Val) c.3578G>T (p.Gly1193Val) | |
| 13 | g.110169735C= | CA2118732830 | COL4A1 | c.3770G= (p.Gly1257=) c.3578G= (p.Gly1193=) | |
| 13 | g.110169735C>G | CA388661990 | COL4A1 | c.3770G>C (p.Gly1257Ala) c.3578G>C (p.Gly1193Ala) | |
| 13 | g.110169735C>T | CA388661988 | COL4A1 | c.3770G>A (p.Gly1257Glu) c.3578G>A (p.Gly1193Glu) | ClinVar dbSNP |
| 13 | g.110169736C>A | CA388661992 | COL4A1 | c.3769G>T (p.Gly1257Trp) c.3577G>T (p.Gly1193Trp) | |
| 13 | g.110169736C>G | CA388661995 | COL4A1 | c.3769G>C (p.Gly1257Arg) c.3577G>C (p.Gly1193Arg) | |
| 13 | g.110169736C>T | CA388661997 | COL4A1 | c.3769G>A (p.Gly1257Arg) c.3577G>A (p.Gly1193Arg) | |
| 13 | g.110169737T>A | CA484788788 | COL4A1 | c.3768A>T (p.Pro1256=) c.3576A>T (p.Pro1192=) | |
| 13 | g.110169737T>C | CA484788789 | COL4A1 | c.3768A>G (p.Pro1256=) c.3576A>G (p.Pro1192=) | |
| 13 | g.110169737T>G | CA484788790 | COL4A1 | c.3768A>C (p.Pro1256=) c.3576A>C (p.Pro1192=) | |
| 13 | g.110169738G>A | CA388661999 | COL4A1 | c.3767C>T (p.Pro1256Leu) c.3575C>T (p.Pro1192Leu) | |
| 13 | g.110169738G>C | CA388662001 | COL4A1 | c.3767C>G (p.Pro1256Arg) c.3575C>G (p.Pro1192Arg) | |
| 13 | g.110169738G>T | CA388662003 | COL4A1 | c.3767C>A (p.Pro1256Gln) c.3575C>A (p.Pro1192Gln) | |
| 13 | g.110169739G>A | CA388662006 | COL4A1 | c.3766C>T (p.Pro1256Ser) c.3574C>T (p.Pro1192Ser) | |
| 13 | g.110169739G>C | CA388662007 | COL4A1 | c.3766C>G (p.Pro1256Ala) c.3574C>G (p.Pro1192Ala) | gnomAD v4 |
| 13 | g.110169739G>T | CA388662009 | COL4A1 | c.3766C>A (p.Pro1256Thr) c.3574C>A (p.Pro1192Thr) | |
| 13 | g.110169740A>C | CA484788792 | COL4A1 | c.3765T>G (p.Pro1255=) c.3573T>G (p.Pro1191=) | |
| 13 | g.110169740A>G | CA484788794 | COL4A1 | c.3765T>C (p.Pro1255=) c.3573T>C (p.Pro1191=) | COSMIC COSMIC |
| 13 | g.110169740A>T | CA484788793 | COL4A1 | c.3765T>A (p.Pro1255=) c.3573T>A (p.Pro1191=) | |
| 13 | g.110169741G>A | CA388662012 | COL4A1 | c.3764C>T (p.Pro1255Leu) c.3572C>T (p.Pro1191Leu) | |
| 13 | g.110169741G>C | CA388662013 | COL4A1 | c.3764C>G (p.Pro1255Arg) c.3572C>G (p.Pro1191Arg) | |
| 13 | g.110169741G>T | CA388662015 | COL4A1 | c.3764C>A (p.Pro1255His) c.3572C>A (p.Pro1191His) | |
| 13 | g.110169742G>A | CA388662018 | COL4A1 | c.3763C>T (p.Pro1255Ser) c.3571C>T (p.Pro1191Ser) | |
| 13 | g.110169742G>C | CA388662022 | COL4A1 | c.3763C>G (p.Pro1255Ala) c.3571C>G (p.Pro1191Ala) | |
| 13 | g.110169742G>T | CA388662019 | COL4A1 | c.3763C>A (p.Pro1255Thr) c.3571C>A (p.Pro1191Thr) | |
| 13 | g.110169742_110169743delinsAA | CA2580087100 | COL4A1 | c.3762_3763delinsTT (p.Pro1255Ser) c.3570_3571delinsTT (p.Pro1191Ser) | ClinVar |
| 13 | g.110169743C>A | CA484788798 | COL4A1 | c.3762G>T (p.Gly1254=) c.3570G>T (p.Gly1190=) | |
| 13 | g.110169743C= | CA2118732832 | COL4A1 | c.3762G= (p.Gly1254=) c.3570G= (p.Gly1190=) | |
| 13 | g.110169743C>G | CA484788799 | COL4A1 | c.3762G>C (p.Gly1254=) c.3570G>C (p.Gly1190=) | |
| 13 | g.110169743C>T | CA7047143 | COL4A1 | c.3762G>A (p.Gly1254=) c.3570G>A (p.Gly1190=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169744C>A | CA388662025 | COL4A1 | c.3761G>T (p.Gly1254Val) c.3569G>T (p.Gly1190Val) | |
| 13 | g.110169744C>G | CA388662027 | COL4A1 | c.3761G>C (p.Gly1254Ala) c.3569G>C (p.Gly1190Ala) | |
| 13 | g.110169744C>T | CA388662028 | COL4A1 | c.3761G>A (p.Gly1254Glu) c.3569G>A (p.Gly1190Glu) | ClinVar dbSNP |
| 13 | g.110169745C>A | CA388662030 | COL4A1 | c.3760G>T (p.Gly1254Trp) c.3568G>T (p.Gly1190Trp) | |
| 13 | g.110169745C= | CA2118732834 | COL4A1 | c.3760G= (p.Gly1254=) c.3568G= (p.Gly1190=) | |
| 13 | g.110169745C>G | CA388662032 | COL4A1 | c.3760G>C (p.Gly1254Arg) c.3568G>C (p.Gly1190Arg) | |
| 13 | g.110169745C>T | CA388662034 | COL4A1 | c.3760G>A (p.Gly1254Arg) c.3568G>A (p.Gly1190Arg) | ClinVar dbSNP |
| 13 | g.110169745_110169746insGCAACCTGGAGGCCGCTGAACGCGCCGCAAGGATGATCCAGTGATCGACACCGACAAAGCCGACTTTTTTCGCCTGATCGCCGGGGTGCATTCGTTCTACCGGCAGGAGATCT | CA912974456 | COL4A1 | c.3759_3760insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC (p.Gly1254ArgfsTer?) c.3567_3568insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC (p.Gly1190ArgfsTer?) | |
| 13 | g.110169746C>A | CA388662036 | COL4A1 | c.3759G>T (p.Met1253Ile) c.3567G>T (p.Met1189Ile) | |
| 13 | g.110169746C>G | CA388662037 | COL4A1 | c.3759G>C (p.Met1253Ile) c.3567G>C (p.Met1189Ile) | |
| 13 | g.110169746C>T | CA388662039 | COL4A1 | c.3759G>A (p.Met1253Ile) c.3567G>A (p.Met1189Ile) | |
| 13 | g.110169747A= | CA2118732835 | COL4A1 | c.3758T= (p.Met1253=) c.3566T= (p.Met1189=) | |
| 13 | g.110169747A>C | CA388662043 | COL4A1 | c.3758T>G (p.Met1253Arg) c.3566T>G (p.Met1189Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110169747A>G | CA256250839 | COL4A1 | c.3758T>C (p.Met1253Thr) c.3566T>C (p.Met1189Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169747A>T | CA388662041 | COL4A1 | c.3758T>A (p.Met1253Lys) c.3566T>A (p.Met1189Lys) | |
| 13 | g.110169748T>A | CA388662046 | COL4A1 | c.3757A>T (p.Met1253Leu) c.3565A>T (p.Met1189Leu) | |
| 13 | g.110169748T>C | CA388662048 | COL4A1 | c.3757A>G (p.Met1253Val) c.3565A>G (p.Met1189Val) | gnomAD v4 |
| 13 | g.110169748T>G | CA388662050 | COL4A1 | c.3757A>C (p.Met1253Leu) c.3565A>C (p.Met1189Leu) | dbSNP |
| 13 | g.110169748T= | CA2118732838 | COL4A1 | c.3757A= (p.Met1253=) c.3565A= (p.Met1189=) | |
| 13 | g.110169749G>A | CA484788802 | COL4A1 | c.3756C>T (p.Pro1252=) c.3564C>T (p.Pro1188=) | gnomAD v4 |
| 13 | g.110169749G>C | CA484788803 | COL4A1 | c.3756C>G (p.Pro1252=) c.3564C>G (p.Pro1188=) | |
| 13 | g.110169749G= | CA2118732840 | COL4A1 | c.3756C= (p.Pro1252=) c.3564C= (p.Pro1188=) | |
| 13 | g.110169749G>T | CA7047144 | COL4A1 | c.3756C>A (p.Pro1252=) c.3564C>A (p.Pro1188=) | dbSNP ExAC gnomAD v2 |
| 13 | g.110169750G>A | CA388662052 | COL4A1 | c.3755C>T (p.Pro1252Leu) c.3563C>T (p.Pro1188Leu) | |
| 13 | g.110169750G>C | CA388662055 | COL4A1 | c.3755C>G (p.Pro1252Arg) c.3563C>G (p.Pro1188Arg) | gnomAD v4 |
| 13 | g.110169750G>T | CA388662056 | COL4A1 | c.3755C>A (p.Pro1252His) c.3563C>A (p.Pro1188His) | |
| 13 | g.110169751G>A | CA388662059 | COL4A1 | c.3754C>T (p.Pro1252Ser) c.3562C>T (p.Pro1188Ser) | |
| 13 | g.110169751G>C | CA388662062 | COL4A1 | c.3754C>G (p.Pro1252Ala) c.3562C>G (p.Pro1188Ala) | |
| 13 | g.110169751G>T | CA388662061 | COL4A1 | c.3754C>A (p.Pro1252Thr) c.3562C>A (p.Pro1188Thr) | |
| 13 | g.110169755_110169763del | CA2623672742 | COL4A1 | c.3746_3754del c.3554_3562del | gnomAD v4 |
| 13 | g.110169752T>A | CA7047145 | COL4A1 | c.3753A>T (p.Gly1251=) c.3561A>T (p.Gly1187=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169752T>C | CA484788804 | COL4A1 | c.3753A>G (p.Gly1251=) c.3561A>G (p.Gly1187=) | |
| 13 | g.110169752T>G | CA484788806 | COL4A1 | c.3753A>C (p.Gly1251=) c.3561A>C (p.Gly1187=) | |
| 13 | g.110169752T= | CA2118732842 | COL4A1 | c.3753A= (p.Gly1251=) c.3561A= (p.Gly1187=) | |
| 13 | g.110169753C>A | CA388662066 | COL4A1 | c.3752G>T (p.Gly1251Val) c.3560G>T (p.Gly1187Val) | |
| 13 | g.110169753C>G | CA388662067 | COL4A1 | c.3752G>C (p.Gly1251Ala) c.3560G>C (p.Gly1187Ala) | |
| 13 | g.110169753C>T | CA388662069 | COL4A1 | c.3752G>A (p.Gly1251Glu) c.3560G>A (p.Gly1187Glu) | |
| 13 | g.110169754C>A | CA388662075 | COL4A1 | c.3751G>T (p.Gly1251Ter) c.3559G>T (p.Gly1187Ter) | |
| 13 | g.110169754C>G | CA388662071 | COL4A1 | c.3751G>C (p.Gly1251Arg) c.3559G>C (p.Gly1187Arg) | |
| 13 | g.110169754C>T | CA388662073 | COL4A1 | c.3751G>A (p.Gly1251Arg) c.3559G>A (p.Gly1187Arg) | COSMIC COSMIC |
| 13 | g.110169755C>A | CA484788809 | COL4A1 | c.3750G>T (p.Pro1250=) c.3558G>T (p.Pro1186=) | ClinVar |
| 13 | g.110169755C= | CA2118732845 | COL4A1 | c.3750G= (p.Pro1250=) c.3558G= (p.Pro1186=) | |
| 13 | g.110169755C>G | CA484788810 | COL4A1 | c.3750G>C (p.Pro1250=) c.3558G>C (p.Pro1186=) | |
| 13 | g.110169755C>T | CA7047146 | COL4A1 | c.3750G>A (p.Pro1250=) c.3558G>A (p.Pro1186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169756G>A | CA7047147 | COL4A1 | c.3749C>T (p.Pro1250Leu) c.3557C>T (p.Pro1186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169756G>C | CA388662077 | COL4A1 | c.3749C>G (p.Pro1250Arg) c.3557C>G (p.Pro1186Arg) | |
| 13 | g.110169756G= | CA2118732847 | COL4A1 | c.3749C= (p.Pro1250=) c.3557C= (p.Pro1186=) | |
| 13 | g.110169756G>T | CA388662079 | COL4A1 | c.3749C>A (p.Pro1250Gln) c.3557C>A (p.Pro1186Gln) | |
| 13 | g.110169757G>A | CA388662081 | COL4A1 | c.3748C>T (p.Pro1250Ser) c.3556C>T (p.Pro1186Ser) | ClinVar gnomAD v4 |
| 13 | g.110169757G>C | CA388662083 | COL4A1 | c.3748C>G (p.Pro1250Ala) c.3556C>G (p.Pro1186Ala) | |
| 13 | g.110169757G= | CA2118732849 | COL4A1 | c.3748C= (p.Pro1250=) c.3556C= (p.Pro1186=) | |
| 13 | g.110169757G>T | CA7047148 | COL4A1 | c.3748C>A (p.Pro1250Thr) c.3556C>A (p.Pro1186Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169758A>C | CA484788813 | COL4A1 | c.3747T>G (p.Leu1249=) c.3555T>G (p.Leu1185=) | |
| 13 | g.110169758A>G | CA484788814 | COL4A1 | c.3747T>C (p.Leu1249=) c.3555T>C (p.Leu1185=) | |
| 13 | g.110169758A>T | CA484788815 | COL4A1 | c.3747T>A (p.Leu1249=) c.3555T>A (p.Leu1185=) | |
| 13 | g.110169759A= | CA2118732851 | COL4A1 | c.3746T= (p.Leu1249=) c.3554T= (p.Leu1185=) | |
| 13 | g.110169759A>C | CA388662086 | COL4A1 | c.3746T>G (p.Leu1249Arg) c.3554T>G (p.Leu1185Arg) | |
| 13 | g.110169759A>G | CA388662088 | COL4A1 | c.3746T>C (p.Leu1249Pro) c.3554T>C (p.Leu1185Pro) | dbSNP |
| 13 | g.110169759A>T | CA388662090 | COL4A1 | c.3746T>A (p.Leu1249His) c.3554T>A (p.Leu1185His) | gnomAD v4 |
| 13 | g.110169760G>A | CA388662092 | COL4A1 | c.3745C>T (p.Leu1249Phe) c.3553C>T (p.Leu1185Phe) | |
| 13 | g.110169760G>C | CA388662094 | COL4A1 | c.3745C>G (p.Leu1249Val) c.3553C>G (p.Leu1185Val) | |
| 13 | g.110169760G>T | CA388662096 | COL4A1 | c.3745C>A (p.Leu1249Ile) c.3553C>A (p.Leu1185Ile) | |
| 13 | g.110169761T>A | CA484788819 | COL4A1 | c.3744A>T (p.Gly1248=) c.3552A>T (p.Gly1184=) | |
| 13 | g.110169761T>C | CA484788818 | COL4A1 | c.3744A>G (p.Gly1248=) c.3552A>G (p.Gly1184=) | |
| 13 | g.110169761T>G | CA484788817 | COL4A1 | c.3744A>C (p.Gly1248=) c.3552A>C (p.Gly1184=) | |
| 13 | g.110169762C>A | CA388662099 | COL4A1 | c.3743G>T (p.Gly1248Val) c.3551G>T (p.Gly1184Val) | |
| 13 | g.110169762C>G | CA388662102 | COL4A1 | c.3743G>C (p.Gly1248Ala) c.3551G>C (p.Gly1184Ala) | |
| 13 | g.110169762C>T | CA388662101 | COL4A1 | c.3743G>A (p.Gly1248Glu) c.3551G>A (p.Gly1184Glu) | ClinVar dbSNP |
| 13 | g.110169763C>A | CA388662105 | COL4A1 | c.3743-1G>T (n.3743-1G>T) c.3551-1G>T (n.3551-1G>T) | |
| 13 | g.110169763C>G | CA388662107 | COL4A1 | c.3743-1G>C (n.3743-1G>C) c.3551-1G>C (n.3551-1G>C) | |
| 13 | g.110169763C>T | CA388662109 | COL4A1 | c.3743-1G>A (n.3743-1G>A) c.3551-1G>A (n.3551-1G>A) | |
| 13 | g.110169764T>A | CA388662111 | COL4A1 | c.3743-2A>T (n.3743-2A>T) c.3551-2A>T (n.3551-2A>T) | |
| 13 | g.110169764T>C | CA388662113 | COL4A1 | c.3743-2A>G (n.3743-2A>G) c.3551-2A>G (n.3551-2A>G) | |
| 13 | g.110169764T>G | CA388662115 | COL4A1 | c.3743-2A>C (n.3743-2A>C) c.3551-2A>C (n.3551-2A>C) | |
| 13 | g.110169765_110169767del | CA2800580989 | COL4A1 | c.3743-4_3743-2del (n.3743-4_3743-2del) c.3551-4_3551-2del (n.3551-4_3551-2del) | |
| 13 | g.110169767T>C | CA960159793 | COL4A1 | c.3743-5A>G (n.3743-5A>G) c.3551-5A>G (n.3551-5A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169767T= | CA2118732852 | COL4A1 | c.3743-5A= (n.3743-5A=) c.3551-5A= (n.3551-5A=) | |
| 13 | g.110169768G>A | CA612622860 | COL4A1 | c.3743-6C>T (n.3743-6C>T) c.3551-6C>T (n.3551-6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169768G= | CA2118732853 | COL4A1 | c.3743-6C= (n.3743-6C=) c.3551-6C= (n.3551-6C=) | |
| 13 | g.110169769G>A | CA960159796 | COL4A1 | c.3743-7C>T (n.3743-7C>T) c.3551-7C>T (n.3551-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169769G= | CA2118732854 | COL4A1 | c.3743-7C= (n.3743-7C=) c.3551-7C= (n.3551-7C=) | |
| 13 | g.110169770A>C | CA2623672743 | COL4A1 | c.3743-8T>G (n.3743-8T>G) c.3551-8T>G (n.3551-8T>G) | gnomAD v4 |
| 13 | g.110169771A>C | CA2575453652 | COL4A1 | c.3743-9T>G (n.3743-9T>G) c.3551-9T>G (n.3551-9T>G) | gnomAD v4 |
| 13 | g.110169773A= | CA2118732856 | COL4A1 | c.3743-11T= (n.3743-11T=) c.3551-11T= (n.3551-11T=) | |
| 13 | g.110169773A>G | CA612622862 | COL4A1 | c.3743-11T>C (n.3743-11T>C) c.3551-11T>C (n.3551-11T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169773_110169780del | CA2800580990 | COL4A1 | c.3743-18_3743-11del (n.3743-18_3743-11del) c.3551-18_3551-11del (n.3551-18_3551-11del) | |
| 13 | g.110169774G>A | CA256250865 | COL4A1 | c.3743-12C>T (n.3743-12C>T) c.3551-12C>T (n.3551-12C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169774G>C | CA612622865 | COL4A1 | c.3743-12C>G (n.3743-12C>G) c.3551-12C>G (n.3551-12C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110169774G= | CA2118732857 | COL4A1 | c.3743-12C= (n.3743-12C=) c.3551-12C= (n.3551-12C=) | |
| 13 | g.110169774G>T | CA2506857772 | COL4A1 | c.3743-12C>A (n.3743-12C>A) c.3551-12C>A (n.3551-12C>A) | |
| 13 | g.110169776A= | CA2118732859 | COL4A1 | c.3743-14T= (n.3743-14T=) c.3551-14T= (n.3551-14T=) | |
| 13 | g.110169776A>C | CA7047149 | COL4A1 | c.3743-14T>G (n.3743-14T>G) c.3551-14T>G (n.3551-14T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169776A>G | CA2623672744 | COL4A1 | c.3743-14T>C (n.3743-14T>C) c.3551-14T>C (n.3551-14T>C) | ClinVar gnomAD v4 |
| 13 | g.110169777G>A | CA7047150 | COL4A1 | c.3743-15C>T (n.3743-15C>T) c.3551-15C>T (n.3551-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169777G= | CA2118732860 | COL4A1 | c.3743-15C= (n.3743-15C=) c.3551-15C= (n.3551-15C=) | |
| 13 | g.110169778A= | CA2118732862 | COL4A1 | c.3743-16T= (n.3743-16T=) c.3551-16T= (n.3551-16T=) | |
| 13 | g.110169778A>C | CA612622869 | COL4A1 | c.3743-16T>G (n.3743-16T>G) c.3551-16T>G (n.3551-16T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169780A= | CA2118732864 | COL4A1 | c.3743-18T= (n.3743-18T=) c.3551-18T= (n.3551-18T=) | |
| 13 | g.110169780A>G | CA7047151 | COL4A1 | c.3743-18T>C (n.3743-18T>C) c.3551-18T>C (n.3551-18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169782C>A | CA7047153 | COL4A1 | c.3743-20G>T (n.3743-20G>T) c.3551-20G>T (n.3551-20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169782C= | CA2118732866 | COL4A1 | c.3743-20G= (n.3743-20G=) c.3551-20G= (n.3551-20G=) | |
| 13 | g.110169782C>G | CA7047152 | COL4A1 | c.3743-20G>C (n.3743-20G>C) c.3551-20G>C (n.3551-20G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169782C>T | CA256250898 | COL4A1 | c.3743-20G>A (n.3743-20G>A) c.3551-20G>A (n.3551-20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169784A>G | CA2623672745 | COL4A1 | c.3743-22T>C (n.3743-22T>C) c.3551-22T>C (n.3551-22T>C) | gnomAD v4 |
| 13 | g.110169786A>G | CA2729123870 | COL4A1 | c.3743-24T>C (n.3743-24T>C) c.3551-24T>C (n.3551-24T>C) | dbSNP |
| 13 | g.110169787C= | CA2118732868 | COL4A1 | c.3743-25G= (n.3743-25G=) c.3551-25G= (n.3551-25G=) | |
| 13 | g.110169787C>T | CA7047154 | COL4A1 | c.3743-25G>A (n.3743-25G>A) c.3551-25G>A (n.3551-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169788A>T | CA655772501 | COL4A1 | c.3743-26T>A (n.3743-26T>A) c.3551-26T>A (n.3551-26T>A) | COSMIC |
| 13 | g.110169791T>C | CA2800580991 | COL4A1 | c.3743-29A>G (n.3743-29A>G) c.3551-29A>G (n.3551-29A>G) | |
| 13 | g.110169792G>A | CA2623672747 | COL4A1 | c.3743-30C>T (n.3743-30C>T) c.3551-30C>T (n.3551-30C>T) | gnomAD v4 |
| 13 | g.110169792G>C | CA2623672746 | COL4A1 | c.3743-30C>G (n.3743-30C>G) c.3551-30C>G (n.3551-30C>G) | gnomAD v4 |
| 13 | g.110169793G>A | CA7047155 | COL4A1 | c.3743-31C>T (n.3743-31C>T) c.3551-31C>T (n.3551-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110169793G>C | CA2623672748 | COL4A1 | c.3743-31C>G (n.3743-31C>G) c.3551-31C>G (n.3551-31C>G) | gnomAD v4 |
| 13 | g.110169793G= | CA2118732870 | COL4A1 | c.3743-31C= (n.3743-31C=) c.3551-31C= (n.3551-31C=) | |
| 13 | g.110169794G>A | CA612622880 | COL4A1 | c.3743-32C>T (n.3743-32C>T) c.3551-32C>T (n.3551-32C>T) | dbSNP gnomAD v2 |
| 13 | g.110169794G>C | CA2623672749 | COL4A1 | c.3743-32C>G (n.3743-32C>G) c.3551-32C>G (n.3551-32C>G) | gnomAD v4 |
| 13 | g.110169794G= | CA2118732872 | COL4A1 | c.3743-32C= (n.3743-32C=) c.3551-32C= (n.3551-32C=) | |
| 13 | g.110169797T>A | CA960159804 | COL4A1 | c.3743-35A>T (n.3743-35A>T) c.3551-35A>T (n.3551-35A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110169797T>G | CA2800580992 | COL4A1 | c.3743-35A>C (n.3743-35A>C) c.3551-35A>C (n.3551-35A>C) | |
| 13 | g.110169797T= | CA2118732873 | COL4A1 | c.3743-35A= (n.3743-35A=) c.3551-35A= (n.3551-35A=) | |
| 13 | g.110169798A>G | CA2800580993 | COL4A1 | c.3743-36T>C (n.3743-36T>C) c.3551-36T>C (n.3551-36T>C) | |
| 13 | g.110169799A>C | CA2800580994 | COL4A1 | c.3743-37T>G (n.3743-37T>G) c.3551-37T>G (n.3551-37T>G) | |
| 13 | g.110169799A>T | CA2623672750 | COL4A1 | c.3743-37T>A (n.3743-37T>A) c.3551-37T>A (n.3551-37T>A) | gnomAD v4 |
| 13 | g.110169801T>C | CA612622882 | COL4A1 | c.3743-39A>G (n.3743-39A>G) c.3551-39A>G (n.3551-39A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169801T= | CA2118732874 | COL4A1 | c.3743-39A= (n.3743-39A=) c.3551-39A= (n.3551-39A=) | |
| 13 | g.110169801_110169802insGGCCTGGGG | CA2800580995 | COL4A1 | c.3743-40_3743-39insCCCCAGGCC (n.3743-40_3743-39insCCCCAGGCC) c.3551-40_3551-39insCCCCAGGCC (n.3551-40_3551-39insCCCCAGGCC) | |
| 13 | g.110169803T>A | CA2623672751 | COL4A1 | c.3743-41A>T (n.3743-41A>T) c.3551-41A>T (n.3551-41A>T) | gnomAD v4 |
| 13 | g.110169803T>C | CA612622884 | COL4A1 | c.3743-41A>G (n.3743-41A>G) c.3551-41A>G (n.3551-41A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169803T>G | CA2623672752 | COL4A1 | c.3743-41A>C (n.3743-41A>C) c.3551-41A>C (n.3551-41A>C) | gnomAD v4 |
| 13 | g.110169803T= | CA2118732876 | COL4A1 | c.3743-41A= (n.3743-41A=) c.3551-41A= (n.3551-41A=) | |
| 13 | g.110169804del | CA2800580996 | COL4A1 | c.3743-42del (n.3743-42del) c.3551-42del (n.3551-42del) | |
| 13 | g.110169804G>A | CA2118732878 | COL4A1 | c.3743-42C>T (n.3743-42C>T) c.3551-42C>T (n.3551-42C>T) | dbSNP gnomAD v4 |
| 13 | g.110169804G= | CA2118732877 | COL4A1 | c.3743-42C= (n.3743-42C=) c.3551-42C= (n.3551-42C=) | |
| 13 | g.110169805C= | CA2118732880 | COL4A1 | c.3743-43G= (n.3743-43G=) c.3551-43G= (n.3551-43G=) | |
| 13 | g.110169805C>T | CA612622886 | COL4A1 | c.3743-43G>A (n.3743-43G>A) c.3551-43G>A (n.3551-43G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110169806A>C | CA2800580997 | COL4A1 | c.3743-44T>G (n.3743-44T>G) c.3551-44T>G (n.3551-44T>G) | |
| 13 | g.110169806A>G | CA2575453654 | COL4A1 | c.3743-44T>C (n.3743-44T>C) c.3551-44T>C (n.3551-44T>C) | gnomAD v4 |
| 13 | g.110169807C>A | CA2623672753 | COL4A1 | c.3743-45G>T (n.3743-45G>T) c.3551-45G>T (n.3551-45G>T) | gnomAD v4 |
| 13 | g.110169807C= | CA2118732881 | COL4A1 | c.3743-45G= (n.3743-45G=) c.3551-45G= (n.3551-45G=) | |
| 13 | g.110169807C>G | CA612622888 | COL4A1 | c.3743-45G>C (n.3743-45G>C) c.3551-45G>C (n.3551-45G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110169807_110169808insGGT | CA2800580998 | COL4A1 | c.3743-46_3743-45insACC (n.3743-46_3743-45insACC) c.3551-46_3551-45insACC (n.3551-46_3551-45insACC) | |
| 13 | g.110169808A= | CA2118732883 | COL4A1 | c.3743-46T= (n.3743-46T=) c.3551-46T= (n.3551-46T=) | |
| 13 | g.110169808A>C | CA695032189 | COL4A1 | c.3743-46T>G (n.3743-46T>G) c.3551-46T>G (n.3551-46T>G) | dbSNP |
| 13 | g.110169809A= | CA2118732884 | COL4A1 | c.3743-47T= (n.3743-47T=) c.3551-47T= (n.3551-47T=) | |
| 13 | g.110169809A>G | CA2118732885 | COL4A1 | c.3743-47T>C (n.3743-47T>C) c.3551-47T>C (n.3551-47T>C) | dbSNP gnomAD v4 |
| 13 | g.110169809_110169810insCCCC | CA2800580999 | COL4A1 | c.3743-48_3743-47insGGGG (n.3743-48_3743-47insGGGG) c.3551-48_3551-47insGGGG (n.3551-48_3551-47insGGGG) | |
| 13 | g.110169810del | CA2623672754 | COL4A1 | c.3743-48del (n.3743-48del) c.3551-48del (n.3551-48del) | gnomAD v4 |
| 13 | g.110169810G>A | CA7047156 | COL4A1 | c.3743-48C>T (n.3743-48C>T) c.3551-48C>T (n.3551-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110169810G>C | CA2800581000 | COL4A1 | c.3743-48C>G (n.3743-48C>G) c.3551-48C>G (n.3551-48C>G) | |
| 13 | g.110169810G= | CA2118732887 | COL4A1 | c.3743-48C= (n.3743-48C=) c.3551-48C= (n.3551-48C=) |