| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108667132G>A | CA258896 | COL4A5 | c.3554-1G>A (n.3554-1G>A) c.3230-1G>A (n.3230-1G>A) c.1127-1G>A (n.1127-1G>A) c.3569-1G>A (n.3569-1G>A) c.1889-1G>A (n.1889-1G>A) | dbSNP |
| X | g.108667132G>C | CA413848006 | COL4A5 | c.3554-1G>C (n.3554-1G>C) c.3230-1G>C (n.3230-1G>C) c.1127-1G>C (n.1127-1G>C) c.3569-1G>C (n.3569-1G>C) c.1889-1G>C (n.1889-1G>C) | |
| X | g.108667132G= | CA2450712533 | COL4A5 | c.3554-1G= (n.3554-1G=) c.3230-1G= (n.3230-1G=) c.1127-1G= (n.1127-1G=) c.3569-1G= (n.3569-1G=) c.1889-1G= (n.1889-1G=) | |
| X | g.108667132G>T | CA413848004 | COL4A5 | c.3554-1G>T (n.3554-1G>T) c.3230-1G>T (n.3230-1G>T) c.1127-1G>T (n.1127-1G>T) c.3569-1G>T (n.3569-1G>T) c.1889-1G>T (n.1889-1G>T) | COSMIC COSMIC |
| X | g.108667133G>A | CA413848008 | COL4A5 | c.3554G>A (p.Gly1185Asp) c.3230G>A (p.Gly1077Asp) c.1127G>A (p.Gly376Asp) c.3569G>A (p.Gly1190Asp) c.1889G>A (p.Gly630Asp) | ClinVar |
| X | g.108667133G>C | CA413848013 | COL4A5 | c.3554G>C (p.Gly1185Ala) c.3230G>C (p.Gly1077Ala) c.1127G>C (p.Gly376Ala) c.3569G>C (p.Gly1190Ala) c.1889G>C (p.Gly630Ala) | |
| X | g.108667133G= | CA2450712534 | COL4A5 | c.3554G= (p.Gly1185=) c.3230G= (p.Gly1077=) c.1127G= (p.Gly376=) c.3569G= (p.Gly1190=) c.1889G= (p.Gly630=) | |
| X | g.108667133G>T | CA413848011 | COL4A5 | c.3554G>T (p.Gly1185Val) c.3230G>T (p.Gly1077Val) c.1127G>T (p.Gly376Val) c.3569G>T (p.Gly1190Val) c.1889G>T (p.Gly630Val) | ClinVar dbSNP |
| X | g.108667134T>A | CA517922459 | COL4A5 | c.3555T>A (p.Gly1185=) c.3231T>A (p.Gly1077=) c.1128T>A (p.Gly376=) c.3570T>A (p.Gly1190=) c.1890T>A (p.Gly630=) | |
| X | g.108667134T>C | CA517922457 | COL4A5 | c.3555T>C (p.Gly1185=) c.3231T>C (p.Gly1077=) c.1128T>C (p.Gly376=) c.3570T>C (p.Gly1190=) c.1890T>C (p.Gly630=) | COSMIC |
| X | g.108667134T>G | CA517922458 | COL4A5 | c.3555T>G (p.Gly1185=) c.3231T>G (p.Gly1077=) c.1128T>G (p.Gly376=) c.3570T>G (p.Gly1190=) c.1890T>G (p.Gly630=) | |
| X | g.108667135C>A | CA413848015 | COL4A5 | c.3556C>A (p.Gln1186Lys) c.3232C>A (p.Gln1078Lys) c.1129C>A (p.Gln377Lys) c.3571C>A (p.Gln1191Lys) c.1891C>A (p.Gln631Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108667135C= | CA2450712535 | COL4A5 | c.3556C= (p.Gln1186=) c.3232C= (p.Gln1078=) c.1129C= (p.Gln377=) c.3571C= (p.Gln1191=) c.1891C= (p.Gln631=) | |
| X | g.108667135C>G | CA413848018 | COL4A5 | c.3556C>G (p.Gln1186Glu) c.3232C>G (p.Gln1078Glu) c.1129C>G (p.Gln377Glu) c.3571C>G (p.Gln1191Glu) c.1891C>G (p.Gln631Glu) | |
| X | g.108667135C>T | CA413848016 | COL4A5 | c.3556C>T (p.Gln1186Ter) c.3232C>T (p.Gln1078Ter) c.1129C>T (p.Gln377Ter) c.3571C>T (p.Gln1191Ter) c.1891C>T (p.Gln631Ter) | ClinVar dbSNP |
| X | g.108667136A>C | CA413848020 | COL4A5 | c.3557A>C (p.Gln1186Pro) c.3233A>C (p.Gln1078Pro) c.1130A>C (p.Gln377Pro) c.3572A>C (p.Gln1191Pro) c.1892A>C (p.Gln631Pro) | |
| X | g.108667136A>G | CA413848021 | COL4A5 | c.3557A>G (p.Gln1186Arg) c.3233A>G (p.Gln1078Arg) c.1130A>G (p.Gln377Arg) c.3572A>G (p.Gln1191Arg) c.1892A>G (p.Gln631Arg) | |
| X | g.108667136A>T | CA413848023 | COL4A5 | c.3557A>T (p.Gln1186Leu) c.3233A>T (p.Gln1078Leu) c.1130A>T (p.Gln377Leu) c.3572A>T (p.Gln1191Leu) c.1892A>T (p.Gln631Leu) | |
| X | g.108667137del | CA2695235649 | COL4A5 | c.3558del (p.Gln1186HisfsTer?) c.3234del (p.Gln1078HisfsTer?) c.1131del (p.Gln377HisfsTer?) c.3573del (p.Gln1191HisfsTer?) c.1893del (p.Gln631HisfsTer?) | |
| X | g.108667137A= | CA2450712536 | COL4A5 | c.3558A= (p.Gln1186=) c.3234A= (p.Gln1078=) c.1131A= (p.Gln377=) c.3573A= (p.Gln1191=) c.1893A= (p.Gln631=) | |
| X | g.108667137A>C | CA413848026 | COL4A5 | c.3558A>C (p.Gln1186His) c.3234A>C (p.Gln1078His) c.1131A>C (p.Gln377His) c.3573A>C (p.Gln1191His) c.1893A>C (p.Gln631His) | |
| X | g.108667137A>G | CA517922463 | COL4A5 | c.3558A>G (p.Gln1186=) c.3234A>G (p.Gln1078=) c.1131A>G (p.Gln377=) c.3573A>G (p.Gln1191=) c.1893A>G (p.Gln631=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108667137A>T | CA413848028 | COL4A5 | c.3558A>T (p.Gln1186His) c.3234A>T (p.Gln1078His) c.1131A>T (p.Gln377His) c.3573A>T (p.Gln1191His) c.1893A>T (p.Gln631His) | |
| X | g.108667138C>A | CA413848030 | COL4A5 | c.3559C>A (p.Pro1187Thr) c.3235C>A (p.Pro1079Thr) c.1132C>A (p.Pro378Thr) c.3574C>A (p.Pro1192Thr) c.1894C>A (p.Pro632Thr) | |
| X | g.108667138C>G | CA413848032 | COL4A5 | c.3559C>G (p.Pro1187Ala) c.3235C>G (p.Pro1079Ala) c.1132C>G (p.Pro378Ala) c.3574C>G (p.Pro1192Ala) c.1894C>G (p.Pro632Ala) | |
| X | g.108667138C>T | CA413848035 | COL4A5 | c.3559C>T (p.Pro1187Ser) c.3235C>T (p.Pro1079Ser) c.1132C>T (p.Pro378Ser) c.3574C>T (p.Pro1192Ser) c.1894C>T (p.Pro632Ser) | |
| X | g.108667139del | CA2579676890 | COL4A5 | c.3560del (p.Pro1187GlnfsTer?) c.3236del (p.Pro1079GlnfsTer?) c.1133del (p.Pro378GlnfsTer?) c.3575del (p.Pro1192GlnfsTer?) c.1895del (p.Pro632GlnfsTer?) | |
| X | g.108667139C>A | CA413848037 | COL4A5 | c.3560C>A (p.Pro1187Gln) c.3236C>A (p.Pro1079Gln) c.1133C>A (p.Pro378Gln) c.3575C>A (p.Pro1192Gln) c.1895C>A (p.Pro632Gln) | |
| X | g.108667139C>G | CA413848039 | COL4A5 | c.3560C>G (p.Pro1187Arg) c.3236C>G (p.Pro1079Arg) c.1133C>G (p.Pro378Arg) c.3575C>G (p.Pro1192Arg) c.1895C>G (p.Pro632Arg) | |
| X | g.108667139C>T | CA413848041 | COL4A5 | c.3560C>T (p.Pro1187Leu) c.3236C>T (p.Pro1079Leu) c.1133C>T (p.Pro378Leu) c.3575C>T (p.Pro1192Leu) c.1895C>T (p.Pro632Leu) | gnomAD v4 |
| X | g.108667140A>C | CA517922467 | COL4A5 | c.3561A>C (p.Pro1187=) c.3237A>C (p.Pro1079=) c.1134A>C (p.Pro378=) c.3576A>C (p.Pro1192=) c.1896A>C (p.Pro632=) | |
| X | g.108667140A>G | CA517922468 | COL4A5 | c.3561A>G (p.Pro1187=) c.3237A>G (p.Pro1079=) c.1134A>G (p.Pro378=) c.3576A>G (p.Pro1192=) c.1896A>G (p.Pro632=) | |
| X | g.108667140A>T | CA517922469 | COL4A5 | c.3561A>T (p.Pro1187=) c.3237A>T (p.Pro1079=) c.1134A>T (p.Pro378=) c.3576A>T (p.Pro1192=) c.1896A>T (p.Pro632=) | |
| X | g.108667141G>A | CA413848047 | COL4A5 | c.3562G>A (p.Gly1188Ser) c.3238G>A (p.Gly1080Ser) c.1135G>A (p.Gly379Ser) c.3577G>A (p.Gly1193Ser) c.1897G>A (p.Gly633Ser) | |
| X | g.108667141G>C | CA413848045 | COL4A5 | c.3562G>C (p.Gly1188Arg) c.3238G>C (p.Gly1080Arg) c.1135G>C (p.Gly379Arg) c.3577G>C (p.Gly1193Arg) c.1897G>C (p.Gly633Arg) | |
| X | g.108667141G>T | CA413848043 | COL4A5 | c.3562G>T (p.Gly1188Cys) c.3238G>T (p.Gly1080Cys) c.1135G>T (p.Gly379Cys) c.3577G>T (p.Gly1193Cys) c.1897G>T (p.Gly633Cys) | |
| X | g.108667142G>A | CA413848049 | COL4A5 | c.3563G>A (p.Gly1188Asp) c.3239G>A (p.Gly1080Asp) c.1136G>A (p.Gly379Asp) c.3578G>A (p.Gly1193Asp) c.1898G>A (p.Gly633Asp) | |
| X | g.108667142G>C | CA413848051 | COL4A5 | c.3563G>C (p.Gly1188Ala) c.3239G>C (p.Gly1080Ala) c.1136G>C (p.Gly379Ala) c.3578G>C (p.Gly1193Ala) c.1898G>C (p.Gly633Ala) | |
| X | g.108667142G>T | CA413848053 | COL4A5 | c.3563G>T (p.Gly1188Val) c.3239G>T (p.Gly1080Val) c.1136G>T (p.Gly379Val) c.3578G>T (p.Gly1193Val) c.1898G>T (p.Gly633Val) | |
| X | g.108667143C>A | CA517922471 | COL4A5 | c.3564C>A (p.Gly1188=) c.3240C>A (p.Gly1080=) c.1137C>A (p.Gly379=) c.3579C>A (p.Gly1193=) c.1899C>A (p.Gly633=) | |
| X | g.108667143C>G | CA517922472 | COL4A5 | c.3564C>G (p.Gly1188=) c.3240C>G (p.Gly1080=) c.1137C>G (p.Gly379=) c.3579C>G (p.Gly1193=) c.1899C>G (p.Gly633=) | |
| X | g.108667143C>T | CA517922473 | COL4A5 | c.3564C>T (p.Gly1188=) c.3240C>T (p.Gly1080=) c.1137C>T (p.Gly379=) c.3579C>T (p.Gly1193=) c.1899C>T (p.Gly633=) | gnomAD v4 |
| X | g.108667144T>A | CA413848055 | COL4A5 | c.3565T>A (p.Phe1189Ile) c.3241T>A (p.Phe1081Ile) c.1138T>A (p.Phe380Ile) c.3580T>A (p.Phe1194Ile) c.1900T>A (p.Phe634Ile) | |
| X | g.108667144T>C | CA413848057 | COL4A5 | c.3565T>C (p.Phe1189Leu) c.3241T>C (p.Phe1081Leu) c.1138T>C (p.Phe380Leu) c.3580T>C (p.Phe1194Leu) c.1900T>C (p.Phe634Leu) | gnomAD v4 |
| X | g.108667144T>G | CA413848059 | COL4A5 | c.3565T>G (p.Phe1189Val) c.3241T>G (p.Phe1081Val) c.1138T>G (p.Phe380Val) c.3580T>G (p.Phe1194Val) c.1900T>G (p.Phe634Val) | |
| X | g.108667145T>A | CA413848062 | COL4A5 | c.3566T>A (p.Phe1189Tyr) c.3242T>A (p.Phe1081Tyr) c.1139T>A (p.Phe380Tyr) c.3581T>A (p.Phe1194Tyr) c.1901T>A (p.Phe634Tyr) | gnomAD v4 |
| X | g.108667145T>C | CA413848064 | COL4A5 | c.3566T>C (p.Phe1189Ser) c.3242T>C (p.Phe1081Ser) c.1139T>C (p.Phe380Ser) c.3581T>C (p.Phe1194Ser) c.1901T>C (p.Phe634Ser) | |
| X | g.108667145T>G | CA413848066 | COL4A5 | c.3566T>G (p.Phe1189Cys) c.3242T>G (p.Phe1081Cys) c.1139T>G (p.Phe380Cys) c.3581T>G (p.Phe1194Cys) c.1901T>G (p.Phe634Cys) | |
| X | g.108667146T>A | CA413848068 | COL4A5 | c.3567T>A (p.Phe1189Leu) c.3243T>A (p.Phe1081Leu) c.1140T>A (p.Phe380Leu) c.3582T>A (p.Phe1194Leu) c.1902T>A (p.Phe634Leu) | |
| X | g.108667146T>C | CA517922475 | COL4A5 | c.3567T>C (p.Phe1189=) c.3243T>C (p.Phe1081=) c.1140T>C (p.Phe380=) c.3582T>C (p.Phe1194=) c.1902T>C (p.Phe634=) |