Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108666493T= | CA2450712309 | COL4A5 | c.3455-3T= (n.3455-3T=) c.3131-3T= (n.3131-3T=) c.1028-3T= (n.1028-3T=) c.3470-3T= (n.3470-3T=) c.1790-3T= (n.1790-3T=) | |
X | g.108666494A>C | CA413847564 | COL4A5 | c.3455-2A>C (n.3455-2A>C) c.3131-2A>C (n.3131-2A>C) c.1028-2A>C (n.1028-2A>C) c.3470-2A>C (n.3470-2A>C) c.1790-2A>C (n.1790-2A>C) | |
X | g.108666494A>G | CA413847559 | COL4A5 | c.3455-2A>G (n.3455-2A>G) c.3131-2A>G (n.3131-2A>G) c.1028-2A>G (n.1028-2A>G) c.3470-2A>G (n.3470-2A>G) c.1790-2A>G (n.1790-2A>G) | gnomAD v4 |
X | g.108666494A>T | CA413847562 | COL4A5 | c.3455-2A>T (n.3455-2A>T) c.3131-2A>T (n.3131-2A>T) c.1028-2A>T (n.1028-2A>T) c.3470-2A>T (n.3470-2A>T) c.1790-2A>T (n.1790-2A>T) | gnomAD v4 |
X | g.108666494dup | CA2450712310 | COL4A5 | c.3455-2dup (n.3455-2dup) c.3131-2dup (n.3131-2dup) c.1028-2dup (n.1028-2dup) c.3470-2dup (n.3470-2dup) c.1790-2dup (n.1790-2dup) | dbSNP |
X | g.108666495G>A | CA413847567 | COL4A5 | c.3455-1G>A (n.3455-1G>A) c.3131-1G>A (n.3131-1G>A) c.1028-1G>A (n.1028-1G>A) c.3470-1G>A (n.3470-1G>A) c.1790-1G>A (n.1790-1G>A) | gnomAD v4 |
X | g.108666495G>C | CA413847570 | COL4A5 | c.3455-1G>C (n.3455-1G>C) c.3131-1G>C (n.3131-1G>C) c.1028-1G>C (n.1028-1G>C) c.3470-1G>C (n.3470-1G>C) c.1790-1G>C (n.1790-1G>C) | |
X | g.108666495G>T | CA413847572 | COL4A5 | c.3455-1G>T (n.3455-1G>T) c.3131-1G>T (n.3131-1G>T) c.1028-1G>T (n.1028-1G>T) c.3470-1G>T (n.3470-1G>T) c.1790-1G>T (n.1790-1G>T) | |
X | g.108666496G>A | CA413847576 | COL4A5 | c.3455G>A (p.Gly1152Asp) c.3131G>A (p.Gly1044Asp) c.1028G>A (p.Gly343Asp) c.3470G>A (p.Gly1157Asp) c.1790G>A (p.Gly597Asp) | gnomAD v4 |
X | g.108666496G>C | CA413847579 | COL4A5 | c.3455G>C (p.Gly1152Ala) c.3131G>C (p.Gly1044Ala) c.1028G>C (p.Gly343Ala) c.3470G>C (p.Gly1157Ala) c.1790G>C (p.Gly597Ala) | |
X | g.108666496G>T | CA413847582 | COL4A5 | c.3455G>T (p.Gly1152Val) c.3131G>T (p.Gly1044Val) c.1028G>T (p.Gly343Val) c.3470G>T (p.Gly1157Val) c.1790G>T (p.Gly597Val) | |
X | g.108666497T>A | CA517922309 | COL4A5 | c.3456T>A (p.Gly1152=) c.3132T>A (p.Gly1044=) c.1029T>A (p.Gly343=) c.3471T>A (p.Gly1157=) c.1791T>A (p.Gly597=) | |
X | g.108666497T>C | CA517922310 | COL4A5 | c.3456T>C (p.Gly1152=) c.3132T>C (p.Gly1044=) c.1029T>C (p.Gly343=) c.3471T>C (p.Gly1157=) c.1791T>C (p.Gly597=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108666497T>G | CA517922311 | COL4A5 | c.3456T>G (p.Gly1152=) c.3132T>G (p.Gly1044=) c.1029T>G (p.Gly343=) c.3471T>G (p.Gly1157=) c.1791T>G (p.Gly597=) | |
X | g.108666497T= | CA2450712311 | COL4A5 | c.3456T= (p.Gly1152=) c.3132T= (p.Gly1044=) c.1029T= (p.Gly343=) c.3471T= (p.Gly1157=) c.1791T= (p.Gly597=) | |
X | g.108666498G>A | CA413847585 | COL4A5 | c.3457G>A (p.Gly1153Ser) c.3133G>A (p.Gly1045Ser) c.1030G>A (p.Gly344Ser) c.3472G>A (p.Gly1158Ser) c.1792G>A (p.Gly598Ser) | gnomAD v4 |
X | g.108666498G>C | CA334045617 | COL4A5 | c.3457G>C (p.Gly1153Arg) c.3133G>C (p.Gly1045Arg) c.1030G>C (p.Gly344Arg) c.3472G>C (p.Gly1158Arg) c.1792G>C (p.Gly598Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666498G= | CA2450712312 | COL4A5 | c.3457G= (p.Gly1153=) c.3133G= (p.Gly1045=) c.1030G= (p.Gly344=) c.3472G= (p.Gly1158=) c.1792G= (p.Gly598=) | |
X | g.108666498G>T | CA413847590 | COL4A5 | c.3457G>T (p.Gly1153Cys) c.3133G>T (p.Gly1045Cys) c.1030G>T (p.Gly344Cys) c.3472G>T (p.Gly1158Cys) c.1792G>T (p.Gly598Cys) | |
X | g.108666499del | CA2739289607 | COL4A5 | c.3458del (p.Gly1153ValfsTer?) c.3134del (p.Gly1045ValfsTer?) c.1031del (p.Gly344ValfsTer?) c.3473del (p.Gly1158ValfsTer?) c.1793del (p.Gly598ValfsTer?) | |
X | g.108666499G>A | CA413847593 | COL4A5 | c.3458G>A (p.Gly1153Asp) c.3134G>A (p.Gly1045Asp) c.1031G>A (p.Gly344Asp) c.3473G>A (p.Gly1158Asp) c.1793G>A (p.Gly598Asp) | gnomAD v4 |
X | g.108666499G>C | CA413847596 | COL4A5 | c.3458G>C (p.Gly1153Ala) c.3134G>C (p.Gly1045Ala) c.1031G>C (p.Gly344Ala) c.3473G>C (p.Gly1158Ala) c.1793G>C (p.Gly598Ala) | |
X | g.108666499G= | CA2450712313 | COL4A5 | c.3458G= (p.Gly1153=) c.3134G= (p.Gly1045=) c.1031G= (p.Gly344=) c.3473G= (p.Gly1158=) c.1793G= (p.Gly598=) | |
X | g.108666499G>T | CA413847598 | COL4A5 | c.3458G>T (p.Gly1153Val) c.3134G>T (p.Gly1045Val) c.1031G>T (p.Gly344Val) c.3473G>T (p.Gly1158Val) c.1793G>T (p.Gly598Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108666500T>A | CA517922314 | COL4A5 | c.3459T>A (p.Gly1153=) c.3135T>A (p.Gly1045=) c.1032T>A (p.Gly344=) c.3474T>A (p.Gly1158=) c.1794T>A (p.Gly598=) | |
X | g.108666500T>C | CA517922313 | COL4A5 | c.3459T>C (p.Gly1153=) c.3135T>C (p.Gly1045=) c.1032T>C (p.Gly344=) c.3474T>C (p.Gly1158=) c.1794T>C (p.Gly598=) | |
X | g.108666500T>G | CA517922312 | COL4A5 | c.3459T>G (p.Gly1153=) c.3135T>G (p.Gly1045=) c.1032T>G (p.Gly344=) c.3474T>G (p.Gly1158=) c.1794T>G (p.Gly598=) | |
X | g.108666501G>A | CA413847602 | COL4A5 | c.3460G>A (p.Gly1154Arg) c.3136G>A (p.Gly1046Arg) c.1033G>A (p.Gly345Arg) c.3475G>A (p.Gly1159Arg) c.1795G>A (p.Gly599Arg) | gnomAD v4 |
X | g.108666501G>C | CA413847609 | COL4A5 | c.3460G>C (p.Gly1154Arg) c.3136G>C (p.Gly1046Arg) c.1033G>C (p.Gly345Arg) c.3475G>C (p.Gly1159Arg) c.1795G>C (p.Gly599Arg) | |
X | g.108666501G>T | CA413847606 | COL4A5 | c.3460G>T (p.Gly1154Ter) c.3136G>T (p.Gly1046Ter) c.1033G>T (p.Gly345Ter) c.3475G>T (p.Gly1159Ter) c.1795G>T (p.Gly599Ter) | ClinVar |
X | g.108666502G>A | CA413847611 | COL4A5 | c.3461G>A (p.Gly1154Glu) c.3137G>A (p.Gly1046Glu) c.1034G>A (p.Gly345Glu) c.3476G>A (p.Gly1159Glu) c.1796G>A (p.Gly599Glu) | COSMIC |
X | g.108666502G>C | CA413847617 | COL4A5 | c.3461G>C (p.Gly1154Ala) c.3137G>C (p.Gly1046Ala) c.1034G>C (p.Gly345Ala) c.3476G>C (p.Gly1159Ala) c.1796G>C (p.Gly599Ala) | |
X | g.108666502G>T | CA413847615 | COL4A5 | c.3461G>T (p.Gly1154Val) c.3137G>T (p.Gly1046Val) c.1034G>T (p.Gly345Val) c.3476G>T (p.Gly1159Val) c.1796G>T (p.Gly599Val) | |
X | g.108666503A>C | CA517922315 | COL4A5 | c.3462A>C (p.Gly1154=) c.3138A>C (p.Gly1046=) c.1035A>C (p.Gly345=) c.3477A>C (p.Gly1159=) c.1797A>C (p.Gly599=) | |
X | g.108666503A>G | CA517922316 | COL4A5 | c.3462A>G (p.Gly1154=) c.3138A>G (p.Gly1046=) c.1035A>G (p.Gly345=) c.3477A>G (p.Gly1159=) c.1797A>G (p.Gly599=) | |
X | g.108666503A>T | CA517922317 | COL4A5 | c.3462A>T (p.Gly1154=) c.3138A>T (p.Gly1046=) c.1035A>T (p.Gly345=) c.3477A>T (p.Gly1159=) c.1797A>T (p.Gly599=) | |
X | g.108666504G>A | CA413847620 | COL4A5 | c.3463G>A (p.Gly1155Ser) c.3139G>A (p.Gly1047Ser) c.1036G>A (p.Gly346Ser) c.3478G>A (p.Gly1160Ser) c.1798G>A (p.Gly600Ser) | |
X | g.108666504G>C | CA413847627 | COL4A5 | c.3463G>C (p.Gly1155Arg) c.3139G>C (p.Gly1047Arg) c.1036G>C (p.Gly346Arg) c.3478G>C (p.Gly1160Arg) c.1798G>C (p.Gly600Arg) | |
X | g.108666504G>T | CA413847624 | COL4A5 | c.3463G>T (p.Gly1155Cys) c.3139G>T (p.Gly1047Cys) c.1036G>T (p.Gly346Cys) c.3478G>T (p.Gly1160Cys) c.1798G>T (p.Gly600Cys) | gnomAD v4 |
X | g.108666504_108666516del | CA2695235646 | COL4A5 | c.3463_3475del (p.Gly1155AsnfsTer?) c.3139_3151del (p.Gly1047AsnfsTer?) c.1036_1048del (p.Gly346AsnfsTer?) c.3478_3490del (p.Gly1160AsnfsTer?) c.1798_1810del (p.Gly600AsnfsTer?) | |
X | g.108666505G>A | CA413847631 | COL4A5 | c.3464G>A (p.Gly1155Asp) c.3140G>A (p.Gly1047Asp) c.1037G>A (p.Gly346Asp) c.3479G>A (p.Gly1160Asp) c.1799G>A (p.Gly600Asp) | |
X | g.108666505G>C | CA413847635 | COL4A5 | c.3464G>C (p.Gly1155Ala) c.3140G>C (p.Gly1047Ala) c.1037G>C (p.Gly346Ala) c.3479G>C (p.Gly1160Ala) c.1799G>C (p.Gly600Ala) | |
X | g.108666505G>T | CA413847638 | COL4A5 | c.3464G>T (p.Gly1155Val) c.3140G>T (p.Gly1047Val) c.1037G>T (p.Gly346Val) c.3479G>T (p.Gly1160Val) c.1799G>T (p.Gly600Val) | gnomAD v4 |
X | g.108666506T>A | CA517922318 | COL4A5 | c.3465T>A (p.Gly1155=) c.3141T>A (p.Gly1047=) c.1038T>A (p.Gly346=) c.3480T>A (p.Gly1160=) c.1800T>A (p.Gly600=) | gnomAD v4 |
X | g.108666506T>C | CA517922319 | COL4A5 | c.3465T>C (p.Gly1155=) c.3141T>C (p.Gly1047=) c.1038T>C (p.Gly346=) c.3480T>C (p.Gly1160=) c.1800T>C (p.Gly600=) | |
X | g.108666506T>G | CA517922320 | COL4A5 | c.3465T>G (p.Gly1155=) c.3141T>G (p.Gly1047=) c.1038T>G (p.Gly346=) c.3480T>G (p.Gly1160=) c.1800T>G (p.Gly600=) | |
X | g.108666507C>A | CA413847642 | COL4A5 | c.3466C>A (p.His1156Asn) c.3142C>A (p.His1048Asn) c.1039C>A (p.His347Asn) c.3481C>A (p.His1161Asn) c.1801C>A (p.His601Asn) | |
X | g.108666507C>G | CA413847645 | COL4A5 | c.3466C>G (p.His1156Asp) c.3142C>G (p.His1048Asp) c.1039C>G (p.His347Asp) c.3481C>G (p.His1161Asp) c.1801C>G (p.His601Asp) | |
X | g.108666507C>T | CA413847648 | COL4A5 | c.3466C>T (p.His1156Tyr) c.3142C>T (p.His1048Tyr) c.1039C>T (p.His347Tyr) c.3481C>T (p.His1161Tyr) c.1801C>T (p.His601Tyr) | |
X | g.108666508A>C | CA413847652 | COL4A5 | c.3467A>C (p.His1156Pro) c.3143A>C (p.His1048Pro) c.1040A>C (p.His347Pro) c.3482A>C (p.His1161Pro) c.1802A>C (p.His601Pro) |