Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108625658_108625686delinsCCCAATATTGCTACATTGTCTTAATTTTA | CA2450697876 | COL4A5 | c.3017-47_3017-19delinsCCCAATATTGCTACATTGTCTTAATTTTA (n.3017-47_3017-19delinsCCCAATATTGCTACATTGTCTTAATTTTA) n.2473-47_2473-19delinsCCCAATATTGCTACATTGTCTTAATTTTA c.250-47_250-19delinsCCCAATATTGCTACATTGTCTTAATTTTA c.2693-47_2693-19delinsCCCAATATTGCTACATTGTCTTAATTTTA (n.2693-47_2693-19delinsCCCAATATTGCTACATTGTCTTAATTTTA) c.590-47_590-19delinsCCCAATATTGCTACATTGTCTTAATTTTA (n.590-47_590-19delinsCCCAATATTGCTACATTGTCTTAATTTTA) c.3032-47_3032-19delinsCCCAATATTGCTACATTGTCTTAATTTTA (n.3032-47_3032-19delinsCCCAATATTGCTACATTGTCTTAATTTTA) c.1352-47_1352-19delinsCCCAATATTGCTACATTGTCTTAATTTTA (n.1352-47_1352-19delinsCCCAATATTGCTACATTGTCTTAATTTTA) | |
X | g.108625664_108625691del | CA869815965 | COL4A5 | c.3017-41_3017-14del (n.3017-41_3017-14del) n.2473-41_2473-14del c.250-41_250-14del c.2693-41_2693-14del (n.2693-41_2693-14del) c.590-41_590-14del (n.590-41_590-14del) c.3032-41_3032-14del (n.3032-41_3032-14del) c.1352-41_1352-14del (n.1352-41_1352-14del) | dbSNP gnomAD v4 |
X | g.108625668C>A | CA2579676628 | COL4A5 | c.3017-37C>A (n.3017-37C>A) n.2473-37C>A c.250-37C>A c.2693-37C>A (n.2693-37C>A) c.590-37C>A (n.590-37C>A) c.3032-37C>A (n.3032-37C>A) c.1352-37C>A (n.1352-37C>A) | gnomAD v4 |
X | g.108625670A= | CA2450697878 | COL4A5 | c.3017-35A= (n.3017-35A=) n.2473-35A= c.250-35A= c.2693-35A= (n.2693-35A=) c.590-35A= (n.590-35A=) c.3032-35A= (n.3032-35A=) c.1352-35A= (n.1352-35A=) | |
X | g.108625670A>G | CA10489018 | COL4A5 | c.3017-35A>G (n.3017-35A>G) n.2473-35A>G c.250-35A>G c.2693-35A>G (n.2693-35A>G) c.590-35A>G (n.590-35A>G) c.3032-35A>G (n.3032-35A>G) c.1352-35A>G (n.1352-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625670A>T | CA2579676629 | COL4A5 | c.3017-35A>T (n.3017-35A>T) n.2473-35A>T c.250-35A>T c.2693-35A>T (n.2693-35A>T) c.590-35A>T (n.590-35A>T) c.3032-35A>T (n.3032-35A>T) c.1352-35A>T (n.1352-35A>T) | |
X | g.108625671C>A | CA2579676630 | COL4A5 | c.3017-34C>A (n.3017-34C>A) n.2473-34C>A c.250-34C>A c.2693-34C>A (n.2693-34C>A) c.590-34C>A (n.590-34C>A) c.3032-34C>A (n.3032-34C>A) c.1352-34C>A (n.1352-34C>A) | gnomAD v4 |
X | g.108625672A>G | CA2694440506 | COL4A5 | c.3017-33A>G (n.3017-33A>G) n.2473-33A>G c.250-33A>G c.2693-33A>G (n.2693-33A>G) c.590-33A>G (n.590-33A>G) c.3032-33A>G (n.3032-33A>G) c.1352-33A>G (n.1352-33A>G) | gnomAD v4 |
X | g.108625673T>G | CA10489019 | COL4A5 | c.3017-32T>G (n.3017-32T>G) n.2473-32T>G c.250-32T>G c.2693-32T>G (n.2693-32T>G) c.590-32T>G (n.590-32T>G) c.3032-32T>G (n.3032-32T>G) c.1352-32T>G (n.1352-32T>G) | dbSNP ExAC gnomAD v4 |
X | g.108625673T= | CA2450697879 | COL4A5 | c.3017-32T= (n.3017-32T=) n.2473-32T= c.250-32T= c.2693-32T= (n.2693-32T=) c.590-32T= (n.590-32T=) c.3032-32T= (n.3032-32T=) c.1352-32T= (n.1352-32T=) | |
X | g.108625677C>A | CA2694440507 | COL4A5 | c.3017-28C>A (n.3017-28C>A) n.2473-28C>A c.250-28C>A c.2693-28C>A (n.2693-28C>A) c.590-28C>A (n.590-28C>A) c.3032-28C>A (n.3032-28C>A) c.1352-28C>A (n.1352-28C>A) | gnomAD v4 |
X | g.108625678T>C | CA2694440508 | COL4A5 | c.3017-27T>C (n.3017-27T>C) n.2473-27T>C c.250-27T>C c.2693-27T>C (n.2693-27T>C) c.590-27T>C (n.590-27T>C) c.3032-27T>C (n.3032-27T>C) c.1352-27T>C (n.1352-27T>C) | gnomAD v4 |
X | g.108625681A>T | CA2694440509 | COL4A5 | c.3017-24A>T (n.3017-24A>T) n.2473-24A>T c.250-24A>T c.2693-24A>T (n.2693-24A>T) c.590-24A>T (n.590-24A>T) c.3032-24A>T (n.3032-24A>T) c.1352-24A>T (n.1352-24A>T) | gnomAD v4 |
X | g.108625682T>C | CA2694440511 | COL4A5 | c.3017-23T>C (n.3017-23T>C) n.2473-23T>C c.250-23T>C c.2693-23T>C (n.2693-23T>C) c.590-23T>C (n.590-23T>C) c.3032-23T>C (n.3032-23T>C) c.1352-23T>C (n.1352-23T>C) | gnomAD v4 |
X | g.108625685del | CA2694440510 | COL4A5 | c.3017-20del (n.3017-20del) n.2473-20del c.250-20del c.2693-20del (n.2693-20del) c.590-20del (n.590-20del) c.3032-20del (n.3032-20del) c.1352-20del (n.1352-20del) | gnomAD v4 |
X | g.108625684T>C | CA2450697881 | COL4A5 | c.3017-21T>C (n.3017-21T>C) n.2473-21T>C c.250-21T>C c.2693-21T>C (n.2693-21T>C) c.590-21T>C (n.590-21T>C) c.3032-21T>C (n.3032-21T>C) c.1352-21T>C (n.1352-21T>C) | dbSNP gnomAD v4 |
X | g.108625684T= | CA2450697880 | COL4A5 | c.3017-21T= (n.3017-21T=) n.2473-21T= c.250-21T= c.2693-21T= (n.2693-21T=) c.590-21T= (n.590-21T=) c.3032-21T= (n.3032-21T=) c.1352-21T= (n.1352-21T=) | |
X | g.108625686A>T | CA2694440512 | COL4A5 | c.3017-19A>T (n.3017-19A>T) n.2473-19A>T c.250-19A>T c.2693-19A>T (n.2693-19A>T) c.590-19A>T (n.590-19A>T) c.3032-19A>T (n.3032-19A>T) c.1352-19A>T (n.1352-19A>T) | gnomAD v4 |
X | g.108625687C>A | CA2694440513 | COL4A5 | c.3017-18C>A (n.3017-18C>A) n.2473-18C>A c.250-18C>A c.2693-18C>A (n.2693-18C>A) c.590-18C>A (n.590-18C>A) c.3032-18C>A (n.3032-18C>A) c.1352-18C>A (n.1352-18C>A) | gnomAD v4 |
X | g.108625688C>A | CA2694440514 | COL4A5 | c.3017-17C>A (n.3017-17C>A) n.2473-17C>A c.250-17C>A c.2693-17C>A (n.2693-17C>A) c.590-17C>A (n.590-17C>A) c.3032-17C>A (n.3032-17C>A) c.1352-17C>A (n.1352-17C>A) | gnomAD v4 |
X | g.108625688C>T | CA2694440515 | COL4A5 | c.3017-17C>T (n.3017-17C>T) n.2473-17C>T c.250-17C>T c.2693-17C>T (n.2693-17C>T) c.590-17C>T (n.590-17C>T) c.3032-17C>T (n.3032-17C>T) c.1352-17C>T (n.1352-17C>T) | gnomAD v4 |
X | g.108625689A= | CA2450697882 | COL4A5 | c.3017-16A= (n.3017-16A=) n.2473-16A= c.250-16A= c.2693-16A= (n.2693-16A=) c.590-16A= (n.590-16A=) c.3032-16A= (n.3032-16A=) c.1352-16A= (n.1352-16A=) | |
X | g.108625689A>G | CA10489020 | COL4A5 | c.3017-16A>G (n.3017-16A>G) n.2473-16A>G c.250-16A>G c.2693-16A>G (n.2693-16A>G) c.590-16A>G (n.590-16A>G) c.3032-16A>G (n.3032-16A>G) c.1352-16A>G (n.1352-16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108625690A= | CA2450697883 | COL4A5 | c.3017-15A= (n.3017-15A=) n.2473-15A= c.250-15A= c.2693-15A= (n.2693-15A=) c.590-15A= (n.590-15A=) c.3032-15A= (n.3032-15A=) c.1352-15A= (n.1352-15A=) | |
X | g.108625690A>C | CA2599754904 | COL4A5 | c.3017-15A>C (n.3017-15A>C) n.2473-15A>C c.250-15A>C c.2693-15A>C (n.2693-15A>C) c.590-15A>C (n.590-15A>C) c.3032-15A>C (n.3032-15A>C) c.1352-15A>C (n.1352-15A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108625690A>G | CA643630766 | COL4A5 | c.3017-15A>G (n.3017-15A>G) n.2473-15A>G c.250-15A>G c.2693-15A>G (n.2693-15A>G) c.590-15A>G (n.590-15A>G) c.3032-15A>G (n.3032-15A>G) c.1352-15A>G (n.1352-15A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108625690A>T | CA2694440516 | COL4A5 | c.3017-15A>T (n.3017-15A>T) n.2473-15A>T c.250-15A>T c.2693-15A>T (n.2693-15A>T) c.590-15A>T (n.590-15A>T) c.3032-15A>T (n.3032-15A>T) c.1352-15A>T (n.1352-15A>T) | gnomAD v4 |
X | g.108625691T>G | CA2694440517 | COL4A5 | c.3017-14T>G (n.3017-14T>G) n.2473-14T>G c.250-14T>G c.2693-14T>G (n.2693-14T>G) c.590-14T>G (n.590-14T>G) c.3032-14T>G (n.3032-14T>G) c.1352-14T>G (n.1352-14T>G) | gnomAD v4 |
X | g.108625692T>C | CA2694440518 | COL4A5 | c.3017-13T>C (n.3017-13T>C) n.2473-13T>C c.250-13T>C c.2693-13T>C (n.2693-13T>C) c.590-13T>C (n.590-13T>C) c.3032-13T>C (n.3032-13T>C) c.1352-13T>C (n.1352-13T>C) | ClinVar gnomAD v4 |
X | g.108625694G>A | CA2531328240 | COL4A5 | c.3017-11G>A (n.3017-11G>A) n.2473-11G>A c.250-11G>A c.2693-11G>A (n.2693-11G>A) c.590-11G>A (n.590-11G>A) c.3032-11G>A (n.3032-11G>A) c.1352-11G>A (n.1352-11G>A) | gnomAD v4 |
X | g.108625694G>C | CA2697544689 | COL4A5 | c.3017-11G>C (n.3017-11G>C) n.2473-11G>C c.250-11G>C c.2693-11G>C (n.2693-11G>C) c.590-11G>C (n.590-11G>C) c.3032-11G>C (n.3032-11G>C) c.1352-11G>C (n.1352-11G>C) | ClinVar |
X | g.108625694G>T | CA2694440519 | COL4A5 | c.3017-11G>T (n.3017-11G>T) n.2473-11G>T c.250-11G>T c.2693-11G>T (n.2693-11G>T) c.590-11G>T (n.590-11G>T) c.3032-11G>T (n.3032-11G>T) c.1352-11G>T (n.1352-11G>T) | gnomAD v4 |
X | g.108625695A>G | CA2694440520 | COL4A5 | c.3017-10A>G (n.3017-10A>G) n.2473-10A>G c.250-10A>G c.2693-10A>G (n.2693-10A>G) c.590-10A>G (n.590-10A>G) c.3032-10A>G (n.3032-10A>G) c.1352-10A>G (n.1352-10A>G) | gnomAD v4 |
X | g.108625696C>A | CA2694440521 | COL4A5 | c.3017-9C>A (n.3017-9C>A) n.2473-9C>A c.250-9C>A c.2693-9C>A (n.2693-9C>A) c.590-9C>A (n.590-9C>A) c.3032-9C>A (n.3032-9C>A) c.1352-9C>A (n.1352-9C>A) | gnomAD v4 |
X | g.108625697C>A | CA643630768 | COL4A5 | c.3017-8C>A (n.3017-8C>A) n.2473-8C>A c.250-8C>A c.2693-8C>A (n.2693-8C>A) c.590-8C>A (n.590-8C>A) c.3032-8C>A (n.3032-8C>A) c.1352-8C>A (n.1352-8C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625697C= | CA2450697884 | COL4A5 | c.3017-8C= (n.3017-8C=) n.2473-8C= c.250-8C= c.2693-8C= (n.2693-8C=) c.590-8C= (n.590-8C=) c.3032-8C= (n.3032-8C=) c.1352-8C= (n.1352-8C=) | |
X | g.108625699_108625702del | CA2694440522 | COL4A5 | c.3017-6_3017-3del (n.3017-6_3017-3del) n.2473-6_2473-3del c.250-6_250-3del c.2693-6_2693-3del (n.2693-6_2693-3del) c.590-6_590-3del (n.590-6_590-3del) c.3032-6_3032-3del (n.3032-6_3032-3del) c.1352-6_1352-3del (n.1352-6_1352-3del) | gnomAD v4 |
X | g.108625698T>C | CA645606860 | COL4A5 | c.3017-7T>C (n.3017-7T>C) n.2473-7T>C c.250-7T>C c.2693-7T>C (n.2693-7T>C) c.590-7T>C (n.590-7T>C) c.3032-7T>C (n.3032-7T>C) c.1352-7T>C (n.1352-7T>C) | gnomAD v4 COSMIC COSMIC |
X | g.108625699T>G | CA2580100208 | COL4A5 | c.3017-6T>G (n.3017-6T>G) n.2473-6T>G c.250-6T>G c.2693-6T>G (n.2693-6T>G) c.590-6T>G (n.590-6T>G) c.3032-6T>G (n.3032-6T>G) c.1352-6T>G (n.1352-6T>G) | ClinVar |
X | g.108625700T>C | CA2694440523 | COL4A5 | c.3017-5T>C (n.3017-5T>C) n.2473-5T>C c.250-5T>C c.2693-5T>C (n.2693-5T>C) c.590-5T>C (n.590-5T>C) c.3032-5T>C (n.3032-5T>C) c.1352-5T>C (n.1352-5T>C) | gnomAD v4 |
X | g.108625700T>G | CA2579676631 | COL4A5 | c.3017-5T>G (n.3017-5T>G) n.2473-5T>G c.250-5T>G c.2693-5T>G (n.2693-5T>G) c.590-5T>G (n.590-5T>G) c.3032-5T>G (n.3032-5T>G) c.1352-5T>G (n.1352-5T>G) | |
X | g.108625701C>A | CA2694440524 | COL4A5 | c.3017-4C>A (n.3017-4C>A) n.2473-4C>A c.250-4C>A c.2693-4C>A (n.2693-4C>A) c.590-4C>A (n.590-4C>A) c.3032-4C>A (n.3032-4C>A) c.1352-4C>A (n.1352-4C>A) | gnomAD v4 |
X | g.108625702T>C | CA2694440525 | COL4A5 | c.3017-3T>C (n.3017-3T>C) n.2473-3T>C c.250-3T>C c.2693-3T>C (n.2693-3T>C) c.590-3T>C (n.590-3T>C) c.3032-3T>C (n.3032-3T>C) c.1352-3T>C (n.1352-3T>C) | gnomAD v4 |
X | g.108625703A>C | CA413854381 | COL4A5 | c.3017-2A>C (n.3017-2A>C) n.2473-2A>C c.250-2A>C c.2693-2A>C (n.2693-2A>C) c.590-2A>C (n.590-2A>C) c.3032-2A>C (n.3032-2A>C) c.1352-2A>C (n.1352-2A>C) | |
X | g.108625703A>G | CA413854367 | COL4A5 | c.3017-2A>G (n.3017-2A>G) n.2473-2A>G c.250-2A>G c.2693-2A>G (n.2693-2A>G) c.590-2A>G (n.590-2A>G) c.3032-2A>G (n.3032-2A>G) c.1352-2A>G (n.1352-2A>G) | ClinVar gnomAD v4 |
X | g.108625703A>T | CA413854365 | COL4A5 | c.3017-2A>T (n.3017-2A>T) n.2473-2A>T c.250-2A>T c.2693-2A>T (n.2693-2A>T) c.590-2A>T (n.590-2A>T) c.3032-2A>T (n.3032-2A>T) c.1352-2A>T (n.1352-2A>T) | gnomAD v4 |
X | g.108625704G>A | CA258791 | COL4A5 | c.3017-1G>A (n.3017-1G>A) n.2473-1G>A c.250-1G>A c.2693-1G>A (n.2693-1G>A) c.590-1G>A (n.590-1G>A) c.3032-1G>A (n.3032-1G>A) c.1352-1G>A (n.1352-1G>A) | ClinVar dbSNP |
X | g.108625704G>C | CA413854386 | COL4A5 | c.3017-1G>C (n.3017-1G>C) n.2473-1G>C c.250-1G>C c.2693-1G>C (n.2693-1G>C) c.590-1G>C (n.590-1G>C) c.3032-1G>C (n.3032-1G>C) c.1352-1G>C (n.1352-1G>C) | |
X | g.108625704G= | CA2450697885 | COL4A5 | c.3017-1G= (n.3017-1G=) n.2473-1G= c.250-1G= c.2693-1G= (n.2693-1G=) c.590-1G= (n.590-1G=) c.3032-1G= (n.3032-1G=) c.1352-1G= (n.1352-1G=) | |
X | g.108625704G>T | CA413854391 | COL4A5 | c.3017-1G>T (n.3017-1G>T) n.2473-1G>T c.250-1G>T c.2693-1G>T (n.2693-1G>T) c.590-1G>T (n.590-1G>T) c.3032-1G>T (n.3032-1G>T) c.1352-1G>T (n.1352-1G>T) | gnomAD v4 |
X | g.108625705del | CA2579676632 | COL4A5 | c.3017del n.2473del c.250del c.2693del c.590del c.3032del c.1352del | |
X | g.108625705G>A | CA413854394 | COL4A5 | c.3017G>A (p.Gly1006Asp) n.2473G>A c.250G>A c.2693G>A (p.Gly898Asp) c.590G>A (p.Gly197Asp) c.3032G>A (p.Gly1011Asp) c.1352G>A (p.Gly451Asp) | ClinVar dbSNP |
X | g.108625705G>C | CA413854397 | COL4A5 | c.3017G>C (p.Gly1006Ala) n.2473G>C c.250G>C c.2693G>C (p.Gly898Ala) c.590G>C (p.Gly197Ala) c.3032G>C (p.Gly1011Ala) c.1352G>C (p.Gly451Ala) | |
X | g.108625705G= | CA2450697886 | COL4A5 | c.3017G= (p.Gly1006=) n.2473G= c.250G= c.2693G= (p.Gly898=) c.590G= (p.Gly197=) c.3032G= (p.Gly1011=) c.1352G= (p.Gly451=) | |
X | g.108625705G>T | CA258792 | COL4A5 | c.3017G>T (p.Gly1006Val) n.2473G>T c.250G>T c.2693G>T (p.Gly898Val) c.590G>T (p.Gly197Val) c.3032G>T (p.Gly1011Val) c.1352G>T (p.Gly451Val) | ClinVar dbSNP |
X | g.108625706T>A | CA517925328 | COL4A5 | c.3018T>A (p.Gly1006=) n.2474T>A c.251T>A c.2694T>A (p.Gly898=) c.591T>A (p.Gly197=) c.3033T>A (p.Gly1011=) c.1353T>A (p.Gly451=) | |
X | g.108625706T>C | CA517925329 | COL4A5 | c.3018T>C (p.Gly1006=) n.2474T>C c.251T>C c.2694T>C (p.Gly898=) c.591T>C (p.Gly197=) c.3033T>C (p.Gly1011=) c.1353T>C (p.Gly451=) | gnomAD v4 |
X | g.108625706T>G | CA517925330 | COL4A5 | c.3018T>G (p.Gly1006=) n.2474T>G c.251T>G c.2694T>G (p.Gly898=) c.591T>G (p.Gly197=) c.3033T>G (p.Gly1011=) c.1353T>G (p.Gly451=) | |
X | g.108625707C>A | CA413854398 | COL4A5 | c.3019C>A (p.Pro1007Thr) n.2475C>A c.252C>A c.2695C>A (p.Pro899Thr) c.592C>A (p.Pro198Thr) c.3034C>A (p.Pro1012Thr) c.1354C>A (p.Pro452Thr) | gnomAD v4 |
X | g.108625707C= | CA2450697887 | COL4A5 | c.3019C= (p.Pro1007=) n.2475C= c.252C= c.2695C= (p.Pro899=) c.592C= (p.Pro198=) c.3034C= (p.Pro1012=) c.1354C= (p.Pro452=) | |
X | g.108625707C>G | CA413854400 | COL4A5 | c.3019C>G (p.Pro1007Ala) n.2475C>G c.252C>G c.2695C>G (p.Pro899Ala) c.592C>G (p.Pro198Ala) c.3034C>G (p.Pro1012Ala) c.1354C>G (p.Pro452Ala) | |
X | g.108625707C>T | CA10489021 | COL4A5 | c.3019C>T (p.Pro1007Ser) n.2475C>T c.252C>T c.2695C>T (p.Pro899Ser) c.592C>T (p.Pro198Ser) c.3034C>T (p.Pro1012Ser) c.1354C>T (p.Pro452Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625708C>A | CA413854402 | COL4A5 | c.3020C>A (p.Pro1007His) n.2476C>A c.253C>A c.2696C>A (p.Pro899His) c.593C>A (p.Pro198His) c.3035C>A (p.Pro1012His) c.1355C>A (p.Pro452His) | |
X | g.108625708C>G | CA413854405 | COL4A5 | c.3020C>G (p.Pro1007Arg) n.2476C>G c.253C>G c.2696C>G (p.Pro899Arg) c.593C>G (p.Pro198Arg) c.3035C>G (p.Pro1012Arg) c.1355C>G (p.Pro452Arg) | |
X | g.108625708C>T | CA413854407 | COL4A5 | c.3020C>T (p.Pro1007Leu) n.2476C>T c.253C>T c.2696C>T (p.Pro899Leu) c.593C>T (p.Pro198Leu) c.3035C>T (p.Pro1012Leu) c.1355C>T (p.Pro452Leu) | |
X | g.108625709C>A | CA517925331 | COL4A5 | c.3021C>A (p.Pro1007=) n.2477C>A c.254C>A c.2697C>A (p.Pro899=) c.594C>A (p.Pro198=) c.3036C>A (p.Pro1012=) c.1356C>A (p.Pro452=) | gnomAD v4 |
X | g.108625709C= | CA2450697888 | COL4A5 | c.3021C= (p.Pro1007=) n.2477C= c.254C= c.2697C= (p.Pro899=) c.594C= (p.Pro198=) c.3036C= (p.Pro1012=) c.1356C= (p.Pro452=) | |
X | g.108625709C>G | CA517925333 | COL4A5 | c.3021C>G (p.Pro1007=) n.2477C>G c.254C>G c.2697C>G (p.Pro899=) c.594C>G (p.Pro198=) c.3036C>G (p.Pro1012=) c.1356C>G (p.Pro452=) | |
X | g.108625709C>T | CA517925332 | COL4A5 | c.3021C>T (p.Pro1007=) n.2477C>T c.254C>T c.2697C>T (p.Pro899=) c.594C>T (p.Pro198=) c.3036C>T (p.Pro1012=) c.1356C>T (p.Pro452=) | dbSNP gnomAD v4 |
X | g.108625710A= | CA2450697889 | COL4A5 | c.3022A= (p.Lys1008=) n.2478A= c.255A= c.2698A= (p.Lys900=) c.595A= (p.Lys199=) c.3037A= (p.Lys1013=) c.1357A= (p.Lys453=) | |
X | g.108625710A>C | CA413854408 | COL4A5 | c.3022A>C (p.Lys1008Gln) n.2478A>C c.255A>C c.2698A>C (p.Lys900Gln) c.595A>C (p.Lys199Gln) c.3037A>C (p.Lys1013Gln) c.1357A>C (p.Lys453Gln) | |
X | g.108625710A>G | CA413854416 | COL4A5 | c.3022A>G (p.Lys1008Glu) n.2478A>G c.255A>G c.2698A>G (p.Lys900Glu) c.595A>G (p.Lys199Glu) c.3037A>G (p.Lys1013Glu) c.1357A>G (p.Lys453Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625710A>T | CA413854419 | COL4A5 | c.3022A>T (p.Lys1008Ter) n.2478A>T c.255A>T c.2698A>T (p.Lys900Ter) c.595A>T (p.Lys199Ter) c.3037A>T (p.Lys1013Ter) c.1357A>T (p.Lys453Ter) | |
X | g.108625711A= | CA2450697890 | COL4A5 | c.3023A= (p.Lys1008=) n.2479A= c.256A= c.2699A= (p.Lys900=) c.596A= (p.Lys199=) c.3038A= (p.Lys1013=) c.1358A= (p.Lys453=) | |
X | g.108625711A>C | CA413854422 | COL4A5 | c.3023A>C (p.Lys1008Thr) n.2479A>C c.256A>C c.2699A>C (p.Lys900Thr) c.596A>C (p.Lys199Thr) c.3038A>C (p.Lys1013Thr) c.1358A>C (p.Lys453Thr) | |
X | g.108625711A>G | CA10489022 | COL4A5 | c.3023A>G (p.Lys1008Arg) n.2479A>G c.256A>G c.2699A>G (p.Lys900Arg) c.596A>G (p.Lys199Arg) c.3038A>G (p.Lys1013Arg) c.1358A>G (p.Lys453Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625711A>T | CA413854426 | COL4A5 | c.3023A>T (p.Lys1008Ile) n.2479A>T c.256A>T c.2699A>T (p.Lys900Ile) c.596A>T (p.Lys199Ile) c.3038A>T (p.Lys1013Ile) c.1358A>T (p.Lys453Ile) | |
X | g.108625712A>C | CA413854429 | COL4A5 | c.3024A>C (p.Lys1008Asn) n.2480A>C c.257A>C c.2700A>C (p.Lys900Asn) c.597A>C (p.Lys199Asn) c.3039A>C (p.Lys1013Asn) c.1359A>C (p.Lys453Asn) | |
X | g.108625712A>G | CA517925334 | COL4A5 | c.3024A>G (p.Lys1008=) n.2480A>G c.257A>G c.2700A>G (p.Lys900=) c.597A>G (p.Lys199=) c.3039A>G (p.Lys1013=) c.1359A>G (p.Lys453=) | |
X | g.108625712A>T | CA413854432 | COL4A5 | c.3024A>T (p.Lys1008Asn) n.2480A>T c.257A>T c.2700A>T (p.Lys900Asn) c.597A>T (p.Lys199Asn) c.3039A>T (p.Lys1013Asn) c.1359A>T (p.Lys453Asn) | |
X | g.108625713G>A | CA413854442 | COL4A5 | c.3025G>A (p.Gly1009Ser) n.2481G>A c.258G>A c.2701G>A (p.Gly901Ser) c.598G>A (p.Gly200Ser) c.3040G>A (p.Gly1014Ser) c.1360G>A (p.Gly454Ser) | |
X | g.108625713G>C | CA413854447 | COL4A5 | c.3025G>C (p.Gly1009Arg) n.2481G>C c.258G>C c.2701G>C (p.Gly901Arg) c.598G>C (p.Gly200Arg) c.3040G>C (p.Gly1014Arg) c.1360G>C (p.Gly454Arg) | |
X | g.108625713G>T | CA413854444 | COL4A5 | c.3025G>T (p.Gly1009Cys) n.2481G>T c.258G>T c.2701G>T (p.Gly901Cys) c.598G>T (p.Gly200Cys) c.3040G>T (p.Gly1014Cys) c.1360G>T (p.Gly454Cys) | |
X | g.108625714G>A | CA413854449 | COL4A5 | c.3026G>A (p.Gly1009Asp) n.2482G>A c.259G>A c.2702G>A (p.Gly901Asp) c.599G>A (p.Gly200Asp) c.3041G>A (p.Gly1014Asp) c.1361G>A (p.Gly454Asp) | gnomAD v4 |
X | g.108625714G>C | CA413854450 | COL4A5 | c.3026G>C (p.Gly1009Ala) n.2482G>C c.259G>C c.2702G>C (p.Gly901Ala) c.599G>C (p.Gly200Ala) c.3041G>C (p.Gly1014Ala) c.1361G>C (p.Gly454Ala) | |
X | g.108625714G>T | CA413854452 | COL4A5 | c.3026G>T (p.Gly1009Val) n.2482G>T c.259G>T c.2702G>T (p.Gly901Val) c.599G>T (p.Gly200Val) c.3041G>T (p.Gly1014Val) c.1361G>T (p.Gly454Val) | dbSNP |
X | g.108625715T>A | CA517925335 | COL4A5 | c.3027T>A (p.Gly1009=) n.2483T>A c.260T>A c.2703T>A (p.Gly901=) c.600T>A (p.Gly200=) c.3042T>A (p.Gly1014=) c.1362T>A (p.Gly454=) | |
X | g.108625715T>C | CA517925336 | COL4A5 | c.3027T>C (p.Gly1009=) n.2483T>C c.260T>C c.2703T>C (p.Gly901=) c.600T>C (p.Gly200=) c.3042T>C (p.Gly1014=) c.1362T>C (p.Gly454=) | |
X | g.108625715T>G | CA517925337 | COL4A5 | c.3027T>G (p.Gly1009=) n.2483T>G c.260T>G c.2703T>G (p.Gly901=) c.600T>G (p.Gly200=) c.3042T>G (p.Gly1014=) c.1362T>G (p.Gly454=) | |
X | g.108625716A>C | CA413854454 | COL4A5 | c.3028A>C (p.Asn1010His) n.2484A>C c.261A>C c.2704A>C (p.Asn902His) c.601A>C (p.Asn201His) c.3043A>C (p.Asn1015His) c.1363A>C (p.Asn455His) | |
X | g.108625716A>G | CA413854457 | COL4A5 | c.3028A>G (p.Asn1010Asp) n.2484A>G c.261A>G c.2704A>G (p.Asn902Asp) c.601A>G (p.Asn201Asp) c.3043A>G (p.Asn1015Asp) c.1363A>G (p.Asn455Asp) | dbSNP |
X | g.108625716A>T | CA413854460 | COL4A5 | c.3028A>T (p.Asn1010Tyr) n.2484A>T c.261A>T c.2704A>T (p.Asn902Tyr) c.601A>T (p.Asn201Tyr) c.3043A>T (p.Asn1015Tyr) c.1363A>T (p.Asn455Tyr) | |
X | g.108625717del | CA2579676633 | COL4A5 | c.3029del (p.Asn1010ThrfsTer11) n.2485del c.262del c.2705del (p.Asn902ThrfsTer11) c.602del (p.Asn201ThrfsTer11) c.3044del (p.Asn1015ThrfsTer11) c.1364del (p.Asn455ThrfsTer11) | gnomAD v4 |
X | g.108625717A= | CA2450697891 | COL4A5 | c.3029A= (p.Asn1010=) n.2485A= c.262A= c.2705A= (p.Asn902=) c.602A= (p.Asn201=) c.3044A= (p.Asn1015=) c.1364A= (p.Asn455=) | |
X | g.108625717A>C | CA413854464 | COL4A5 | c.3029A>C (p.Asn1010Thr) n.2485A>C c.262A>C c.2705A>C (p.Asn902Thr) c.602A>C (p.Asn201Thr) c.3044A>C (p.Asn1015Thr) c.1364A>C (p.Asn455Thr) | |
X | g.108625717A>G | CA10489023 | COL4A5 | c.3029A>G (p.Asn1010Ser) n.2485A>G c.262A>G c.2705A>G (p.Asn902Ser) c.602A>G (p.Asn201Ser) c.3044A>G (p.Asn1015Ser) c.1364A>G (p.Asn455Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625717A>T | CA413854468 | COL4A5 | c.3029A>T (p.Asn1010Ile) n.2485A>T c.262A>T c.2705A>T (p.Asn902Ile) c.602A>T (p.Asn201Ile) c.3044A>T (p.Asn1015Ile) c.1364A>T (p.Asn455Ile) | |
X | g.108625718C>A | CA413854472 | COL4A5 | c.3030C>A (p.Asn1010Lys) n.2486C>A c.263C>A c.2706C>A (p.Asn902Lys) c.603C>A (p.Asn201Lys) c.3045C>A (p.Asn1015Lys) c.1365C>A (p.Asn455Lys) | |
X | g.108625718C>G | CA413854475 | COL4A5 | c.3030C>G (p.Asn1010Lys) n.2486C>G c.263C>G c.2706C>G (p.Asn902Lys) c.603C>G (p.Asn201Lys) c.3045C>G (p.Asn1015Lys) c.1365C>G (p.Asn455Lys) | |
X | g.108625718C>T | CA517925338 | COL4A5 | c.3030C>T (p.Asn1010=) n.2486C>T c.263C>T c.2706C>T (p.Asn902=) c.603C>T (p.Asn201=) c.3045C>T (p.Asn1015=) c.1365C>T (p.Asn455=) | COSMIC COSMIC |
X | g.108625720del | CA2580100214 | COL4A5 | c.3032del (p.Pro1011LeufsTer10) n.2488del c.265del c.2708del (p.Pro903LeufsTer10) c.605del (p.Pro202LeufsTer10) c.3047del (p.Pro1016LeufsTer10) c.1367del (p.Pro456LeufsTer10) | ClinVar |
X | g.108625719C>A | CA413854483 | COL4A5 | c.3031C>A (p.Pro1011Thr) n.2487C>A c.264C>A c.2707C>A (p.Pro903Thr) c.604C>A (p.Pro202Thr) c.3046C>A (p.Pro1016Thr) c.1366C>A (p.Pro456Thr) | gnomAD v4 |
X | g.108625719C>G | CA413854480 | COL4A5 | c.3031C>G (p.Pro1011Ala) n.2487C>G c.264C>G c.2707C>G (p.Pro903Ala) c.604C>G (p.Pro202Ala) c.3046C>G (p.Pro1016Ala) c.1366C>G (p.Pro456Ala) | |
X | g.108625719C>T | CA413854478 | COL4A5 | c.3031C>T (p.Pro1011Ser) n.2487C>T c.264C>T c.2707C>T (p.Pro903Ser) c.604C>T (p.Pro202Ser) c.3046C>T (p.Pro1016Ser) c.1366C>T (p.Pro456Ser) | gnomAD v4 |
X | g.108625720C>A | CA413854487 | COL4A5 | c.3032C>A (p.Pro1011His) n.2488C>A c.265C>A c.2708C>A (p.Pro903His) c.605C>A (p.Pro202His) c.3047C>A (p.Pro1016His) c.1367C>A (p.Pro456His) | |
X | g.108625720C= | CA2450697892 | COL4A5 | c.3032C= (p.Pro1011=) n.2488C= c.265C= c.2708C= (p.Pro903=) c.605C= (p.Pro202=) c.3047C= (p.Pro1016=) c.1367C= (p.Pro456=) | |
X | g.108625720C>G | CA413854490 | COL4A5 | c.3032C>G (p.Pro1011Arg) n.2488C>G c.265C>G c.2708C>G (p.Pro903Arg) c.605C>G (p.Pro202Arg) c.3047C>G (p.Pro1016Arg) c.1367C>G (p.Pro456Arg) | |
X | g.108625720C>T | CA413854492 | COL4A5 | c.3032C>T (p.Pro1011Leu) n.2488C>T c.265C>T c.2708C>T (p.Pro903Leu) c.605C>T (p.Pro202Leu) c.3047C>T (p.Pro1016Leu) c.1367C>T (p.Pro456Leu) | dbSNP |
X | g.108625721T>A | CA517925339 | COL4A5 | c.3033T>A (p.Pro1011=) n.2489T>A c.266T>A c.2709T>A (p.Pro903=) c.606T>A (p.Pro202=) c.3048T>A (p.Pro1016=) c.1368T>A (p.Pro456=) | |
X | g.108625721T>C | CA517925340 | COL4A5 | c.3033T>C (p.Pro1011=) n.2489T>C c.266T>C c.2709T>C (p.Pro903=) c.606T>C (p.Pro202=) c.3048T>C (p.Pro1016=) c.1368T>C (p.Pro456=) | |
X | g.108625721T>G | CA517925341 | COL4A5 | c.3033T>G (p.Pro1011=) n.2489T>G c.266T>G c.2709T>G (p.Pro903=) c.606T>G (p.Pro202=) c.3048T>G (p.Pro1016=) c.1368T>G (p.Pro456=) | |
X | g.108625722G>A | CA413854495 | COL4A5 | c.3034G>A (p.Gly1012Ser) n.2490G>A c.267G>A c.2710G>A (p.Gly904Ser) c.607G>A (p.Gly203Ser) c.3049G>A (p.Gly1017Ser) c.1369G>A (p.Gly457Ser) | |
X | g.108625722G>C | CA413854497 | COL4A5 | c.3034G>C (p.Gly1012Arg) n.2490G>C c.267G>C c.2710G>C (p.Gly904Arg) c.607G>C (p.Gly203Arg) c.3049G>C (p.Gly1017Arg) c.1369G>C (p.Gly457Arg) | |
X | g.108625722G>T | CA413854499 | COL4A5 | c.3034G>T (p.Gly1012Cys) n.2490G>T c.267G>T c.2710G>T (p.Gly904Cys) c.607G>T (p.Gly203Cys) c.3049G>T (p.Gly1017Cys) c.1369G>T (p.Gly457Cys) | COSMIC COSMIC |
X | g.108625723del | CA2579676634 | COL4A5 | c.3035del (p.Gly1012ValfsTer9) n.2491del c.268del c.2711del (p.Gly904ValfsTer9) c.608del (p.Gly203ValfsTer9) c.3050del (p.Gly1017ValfsTer9) c.1370del (p.Gly457ValfsTer9) | gnomAD v4 |
X | g.108625723G>A | CA413854501 | COL4A5 | c.3035G>A (p.Gly1012Asp) n.2491G>A c.268G>A c.2711G>A (p.Gly904Asp) c.608G>A (p.Gly203Asp) c.3050G>A (p.Gly1017Asp) c.1370G>A (p.Gly457Asp) | ClinVar dbSNP |
X | g.108625723G>C | CA413854502 | COL4A5 | c.3035G>C (p.Gly1012Ala) n.2491G>C c.268G>C c.2711G>C (p.Gly904Ala) c.608G>C (p.Gly203Ala) c.3050G>C (p.Gly1017Ala) c.1370G>C (p.Gly457Ala) | |
X | g.108625723G>T | CA413854504 | COL4A5 | c.3035G>T (p.Gly1012Val) n.2491G>T c.268G>T c.2711G>T (p.Gly904Val) c.608G>T (p.Gly203Val) c.3050G>T (p.Gly1017Val) c.1370G>T (p.Gly457Val) | |
X | g.108625724T>A | CA517925342 | COL4A5 | c.3036T>A (p.Gly1012=) n.2492T>A c.269T>A c.2712T>A (p.Gly904=) c.609T>A (p.Gly203=) c.3051T>A (p.Gly1017=) c.1371T>A (p.Gly457=) | |
X | g.108625724T>C | CA517925343 | COL4A5 | c.3036T>C (p.Gly1012=) n.2492T>C c.269T>C c.2712T>C (p.Gly904=) c.609T>C (p.Gly203=) c.3051T>C (p.Gly1017=) c.1371T>C (p.Gly457=) | |
X | g.108625724T>G | CA517925344 | COL4A5 | c.3036T>G (p.Gly1012=) n.2492T>G c.269T>G c.2712T>G (p.Gly904=) c.609T>G (p.Gly203=) c.3051T>G (p.Gly1017=) c.1371T>G (p.Gly457=) | |
X | g.108625725C>A | CA413854507 | COL4A5 | c.3037C>A (p.Leu1013Ile) n.2493C>A c.270C>A c.2713C>A (p.Leu905Ile) c.610C>A (p.Leu204Ile) c.3052C>A (p.Leu1018Ile) c.1372C>A (p.Leu458Ile) | |
X | g.108625725C= | CA2450697893 | COL4A5 | c.3037C= (p.Leu1013=) n.2493C= c.270C= c.2713C= (p.Leu905=) c.610C= (p.Leu204=) c.3052C= (p.Leu1018=) c.1372C= (p.Leu458=) | |
X | g.108625725C>G | CA413854510 | COL4A5 | c.3037C>G (p.Leu1013Val) n.2493C>G c.270C>G c.2713C>G (p.Leu905Val) c.610C>G (p.Leu204Val) c.3052C>G (p.Leu1018Val) c.1372C>G (p.Leu458Val) | |
X | g.108625725C>T | CA10489024 | COL4A5 | c.3037C>T (p.Leu1013Phe) n.2493C>T c.270C>T c.2713C>T (p.Leu905Phe) c.610C>T (p.Leu204Phe) c.3052C>T (p.Leu1018Phe) c.1372C>T (p.Leu458Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108625726T>A | CA413854517 | COL4A5 | c.3038T>A (p.Leu1013His) n.2494T>A c.271T>A c.2714T>A (p.Leu905His) c.611T>A (p.Leu204His) c.3053T>A (p.Leu1018His) c.1373T>A (p.Leu458His) | |
X | g.108625726T>C | CA413854519 | COL4A5 | c.3038T>C (p.Leu1013Pro) n.2494T>C c.271T>C c.2714T>C (p.Leu905Pro) c.611T>C (p.Leu204Pro) c.3053T>C (p.Leu1018Pro) c.1373T>C (p.Leu458Pro) | |
X | g.108625726T>G | CA413854514 | COL4A5 | c.3038T>G (p.Leu1013Arg) n.2494T>G c.271T>G c.2714T>G (p.Leu905Arg) c.611T>G (p.Leu204Arg) c.3053T>G (p.Leu1018Arg) c.1373T>G (p.Leu458Arg) | |
X | g.108625727C>A | CA517925345 | COL4A5 | c.3039C>A (p.Leu1013=) n.2495C>A c.272C>A c.2715C>A (p.Leu905=) c.612C>A (p.Leu204=) c.3054C>A (p.Leu1018=) c.1374C>A (p.Leu458=) | |
X | g.108625727C>G | CA517925346 | COL4A5 | c.3039C>G (p.Leu1013=) n.2495C>G c.272C>G c.2715C>G (p.Leu905=) c.612C>G (p.Leu204=) c.3054C>G (p.Leu1018=) c.1374C>G (p.Leu458=) | |
X | g.108625727C>T | CA517925347 | COL4A5 | c.3039C>T (p.Leu1013=) n.2495C>T c.272C>T c.2715C>T (p.Leu905=) c.612C>T (p.Leu204=) c.3054C>T (p.Leu1018=) c.1374C>T (p.Leu458=) | COSMIC COSMIC |
X | g.108625728C>A | CA413854522 | COL4A5 | c.3040C>A (p.Pro1014Thr) n.2496C>A c.273C>A c.2716C>A (p.Pro906Thr) c.613C>A (p.Pro205Thr) c.3055C>A (p.Pro1019Thr) c.1375C>A (p.Pro459Thr) | |
X | g.108625728C>G | CA413854525 | COL4A5 | c.3040C>G (p.Pro1014Ala) n.2496C>G c.273C>G c.2716C>G (p.Pro906Ala) c.613C>G (p.Pro205Ala) c.3055C>G (p.Pro1019Ala) c.1375C>G (p.Pro459Ala) | |
X | g.108625728C>T | CA413854526 | COL4A5 | c.3040C>T (p.Pro1014Ser) n.2496C>T c.273C>T c.2716C>T (p.Pro906Ser) c.613C>T (p.Pro205Ser) c.3055C>T (p.Pro1019Ser) c.1375C>T (p.Pro459Ser) | |
X | g.108625729C>A | CA413854529 | COL4A5 | c.3041C>A (p.Pro1014His) n.2497C>A c.274C>A c.2717C>A (p.Pro906His) c.614C>A (p.Pro205His) c.3056C>A (p.Pro1019His) c.1376C>A (p.Pro459His) | |
X | g.108625729C= | CA2450697894 | COL4A5 | c.3041C= (p.Pro1014=) n.2497C= c.274C= c.2717C= (p.Pro906=) c.614C= (p.Pro205=) c.3056C= (p.Pro1019=) c.1376C= (p.Pro459=) | |
X | g.108625729C>G | CA413854532 | COL4A5 | c.3041C>G (p.Pro1014Arg) n.2497C>G c.274C>G c.2717C>G (p.Pro906Arg) c.614C>G (p.Pro205Arg) c.3056C>G (p.Pro1019Arg) c.1376C>G (p.Pro459Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108625729C>T | CA413854535 | COL4A5 | c.3041C>T (p.Pro1014Leu) n.2497C>T c.274C>T c.2717C>T (p.Pro906Leu) c.614C>T (p.Pro205Leu) c.3056C>T (p.Pro1019Leu) c.1376C>T (p.Pro459Leu) | COSMIC COSMIC |
X | g.108625730T>A | CA517925348 | COL4A5 | c.3042T>A (p.Pro1014=) n.2498T>A c.275T>A c.2718T>A (p.Pro906=) c.615T>A (p.Pro205=) c.3057T>A (p.Pro1019=) c.1377T>A (p.Pro459=) | |
X | g.108625730T>C | CA517925349 | COL4A5 | c.3042T>C (p.Pro1014=) n.2498T>C c.275T>C c.2718T>C (p.Pro906=) c.615T>C (p.Pro205=) c.3057T>C (p.Pro1019=) c.1377T>C (p.Pro459=) | |
X | g.108625730T>G | CA517925350 | COL4A5 | c.3042T>G (p.Pro1014=) n.2498T>G c.275T>G c.2718T>G (p.Pro906=) c.615T>G (p.Pro205=) c.3057T>G (p.Pro1019=) c.1377T>G (p.Pro459=) | |
X | g.108625731G>A | CA413854539 | COL4A5 | c.3043G>A (p.Gly1015Arg) n.2499G>A c.276G>A c.2719G>A (p.Gly907Arg) c.616G>A (p.Gly206Arg) c.3058G>A (p.Gly1020Arg) c.1378G>A (p.Gly460Arg) | ClinVar |
X | g.108625731G>C | CA413854540 | COL4A5 | c.3043G>C (p.Gly1015Arg) n.2499G>C c.276G>C c.2719G>C (p.Gly907Arg) c.616G>C (p.Gly206Arg) c.3058G>C (p.Gly1020Arg) c.1378G>C (p.Gly460Arg) | |
X | g.108625731G= | CA2450697895 | COL4A5 | c.3043G= (p.Gly1015=) n.2499G= c.276G= c.2719G= (p.Gly907=) c.616G= (p.Gly206=) c.3058G= (p.Gly1020=) c.1378G= (p.Gly460=) | |
X | g.108625731G>T | CA413854543 | COL4A5 | c.3043G>T (p.Gly1015Ter) n.2499G>T c.276G>T c.2719G>T (p.Gly907Ter) c.616G>T (p.Gly206Ter) c.3058G>T (p.Gly1020Ter) c.1378G>T (p.Gly460Ter) | ClinVar dbSNP |
X | g.108625732del | CA2579676635 | COL4A5 | c.3044del (p.Gly1015AspfsTer6) n.2500del c.277del c.2720del (p.Gly907AspfsTer6) c.617del (p.Gly206AspfsTer6) c.3059del (p.Gly1020AspfsTer6) c.1379del (p.Gly460AspfsTer6) | |
X | g.108625732G>A | CA413854545 | COL4A5 | c.3044G>A (p.Gly1015Glu) n.2500G>A c.277G>A c.2720G>A (p.Gly907Glu) c.617G>A (p.Gly206Glu) c.3059G>A (p.Gly1020Glu) c.1379G>A (p.Gly460Glu) | |
X | g.108625732G>C | CA413854548 | COL4A5 | c.3044G>C (p.Gly1015Ala) n.2500G>C c.277G>C c.2720G>C (p.Gly907Ala) c.617G>C (p.Gly206Ala) c.3059G>C (p.Gly1020Ala) c.1379G>C (p.Gly460Ala) | |
X | g.108625732G= | CA2450697896 | COL4A5 | c.3044G= (p.Gly1015=) n.2500G= c.277G= c.2720G= (p.Gly907=) c.617G= (p.Gly206=) c.3059G= (p.Gly1020=) c.1379G= (p.Gly460=) | |
X | g.108625732G>T | CA258794 | COL4A5 | c.3044G>T (p.Gly1015Val) n.2500G>T c.277G>T c.2720G>T (p.Gly907Val) c.617G>T (p.Gly206Val) c.3059G>T (p.Gly1020Val) c.1379G>T (p.Gly460Val) | dbSNP |
X | g.108625733A= | CA2450697898 | COL4A5 | c.3045A= (p.Gly1015=) n.2501A= c.278A= c.2721A= (p.Gly907=) c.618A= (p.Gly206=) c.3060A= (p.Gly1020=) c.1380A= (p.Gly460=) | |
X | g.108625733A>C | CA517925351 | COL4A5 | c.3045A>C (p.Gly1015=) n.2501A>C c.278A>C c.2721A>C (p.Gly907=) c.618A>C (p.Gly206=) c.3060A>C (p.Gly1020=) c.1380A>C (p.Gly460=) | |
X | g.108625733A>G | CA517925352 | COL4A5 | c.3045A>G (p.Gly1015=) n.2501A>G c.278A>G c.2721A>G (p.Gly907=) c.618A>G (p.Gly206=) c.3060A>G (p.Gly1020=) c.1380A>G (p.Gly460=) | ClinVar dbSNP |
X | g.108625733A>T | CA517925353 | COL4A5 | c.3045A>T (p.Gly1015=) n.2501A>T c.278A>T c.2721A>T (p.Gly907=) c.618A>T (p.Gly206=) c.3060A>T (p.Gly1020=) c.1380A>T (p.Gly460=) | |
X | g.108625733_108625734delinsAC | CA2450697897 | COL4A5 | c.3045_3046delinsAC (p.Gly1015=) n.2501_2502delinsAC c.278_279delinsAC c.2721_2722delinsAC (p.Gly907=) c.618_619delinsAC (p.Gly206=) c.3060_3061delinsAC (p.Gly1020=) c.1380_1381delinsAC (p.Gly460=) | |
X | g.108625734del | CA261091 | COL4A5 | c.3046del (p.Gln1016SerfsTer5) n.2502del c.279del c.2722del (p.Gln908SerfsTer5) c.619del (p.Gln207SerfsTer5) c.3061del (p.Gln1021SerfsTer5) c.1381del (p.Gln461SerfsTer5) | dbSNP |
X | g.108625734C>A | CA413854558 | COL4A5 | c.3046C>A (p.Gln1016Lys) n.2502C>A c.279C>A c.2722C>A (p.Gln908Lys) c.619C>A (p.Gln207Lys) c.3061C>A (p.Gln1021Lys) c.1381C>A (p.Gln461Lys) | |
X | g.108625734C= | CA2450697899 | COL4A5 | c.3046C= (p.Gln1016=) n.2502C= c.279C= c.2722C= (p.Gln908=) c.619C= (p.Gln207=) c.3061C= (p.Gln1021=) c.1381C= (p.Gln461=) | |
X | g.108625734C>G | CA413854556 | COL4A5 | c.3046C>G (p.Gln1016Glu) n.2502C>G c.279C>G c.2722C>G (p.Gln908Glu) c.619C>G (p.Gln207Glu) c.3061C>G (p.Gln1021Glu) c.1381C>G (p.Gln461Glu) | |
X | g.108625734C>T | CA258796 | COL4A5 | c.3046C>T (p.Gln1016Ter) n.2502C>T c.279C>T c.2722C>T (p.Gln908Ter) c.619C>T (p.Gln207Ter) c.3061C>T (p.Gln1021Ter) c.1381C>T (p.Gln461Ter) | dbSNP |
X | g.108625735A>C | CA413854561 | COL4A5 | c.3047A>C (p.Gln1016Pro) n.2503A>C c.280A>C c.2723A>C (p.Gln908Pro) c.620A>C (p.Gln207Pro) c.3062A>C (p.Gln1021Pro) c.1382A>C (p.Gln461Pro) | |
X | g.108625735A>G | CA413854563 | COL4A5 | c.3047A>G (p.Gln1016Arg) n.2503A>G c.280A>G c.2723A>G (p.Gln908Arg) c.620A>G (p.Gln207Arg) c.3062A>G (p.Gln1021Arg) c.1382A>G (p.Gln461Arg) | |
X | g.108625735A>T | CA413854564 | COL4A5 | c.3047A>T (p.Gln1016Leu) n.2503A>T c.280A>T c.2723A>T (p.Gln908Leu) c.620A>T (p.Gln207Leu) c.3062A>T (p.Gln1021Leu) c.1382A>T (p.Gln461Leu) | |
X | g.108625736G>A | CA517925354 | COL4A5 | c.3048G>A (p.Gln1016=) n.2504G>A c.281G>A c.2724G>A (p.Gln908=) c.621G>A (p.Gln207=) c.3063G>A (p.Gln1021=) c.1383G>A (p.Gln461=) | |
X | g.108625736G>C | CA413854566 | COL4A5 | c.3048G>C (p.Gln1016His) n.2504G>C c.281G>C c.2724G>C (p.Gln908His) c.621G>C (p.Gln207His) c.3063G>C (p.Gln1021His) c.1383G>C (p.Gln461His) | |
X | g.108625736G>T | CA413854568 | COL4A5 | c.3048G>T (p.Gln1016His) n.2504G>T c.281G>T c.2724G>T (p.Gln908His) c.621G>T (p.Gln207His) c.3063G>T (p.Gln1021His) c.1383G>T (p.Gln461His) | |
X | g.108625737C>A | CA413854570 | COL4A5 | c.3049C>A (p.Pro1017Thr) n.2505C>A c.282C>A c.2725C>A (p.Pro909Thr) c.622C>A (p.Pro208Thr) c.3064C>A (p.Pro1022Thr) c.1384C>A (p.Pro462Thr) | |
X | g.108625737C>G | CA413854572 | COL4A5 | c.3049C>G (p.Pro1017Ala) n.2505C>G c.282C>G c.2725C>G (p.Pro909Ala) c.622C>G (p.Pro208Ala) c.3064C>G (p.Pro1022Ala) c.1384C>G (p.Pro462Ala) | |
X | g.108625737C>T | CA413854574 | COL4A5 | c.3049C>T (p.Pro1017Ser) n.2505C>T c.282C>T c.2725C>T (p.Pro909Ser) c.622C>T (p.Pro208Ser) c.3064C>T (p.Pro1022Ser) c.1384C>T (p.Pro462Ser) | |
X | g.108625738C>A | CA413854576 | COL4A5 | c.3050C>A (p.Pro1017Gln) n.2506C>A c.283C>A c.2726C>A (p.Pro909Gln) c.623C>A (p.Pro208Gln) c.3065C>A (p.Pro1022Gln) c.1385C>A (p.Pro462Gln) | |
X | g.108625738C>G | CA413854578 | COL4A5 | c.3050C>G (p.Pro1017Arg) n.2506C>G c.283C>G c.2726C>G (p.Pro909Arg) c.623C>G (p.Pro208Arg) c.3065C>G (p.Pro1022Arg) c.1385C>G (p.Pro462Arg) | |
X | g.108625738C>T | CA413854579 | COL4A5 | c.3050C>T (p.Pro1017Leu) n.2506C>T c.283C>T c.2726C>T (p.Pro909Leu) c.623C>T (p.Pro208Leu) c.3065C>T (p.Pro1022Leu) c.1385C>T (p.Pro462Leu) | |
X | g.108625739A>C | CA517925357 | COL4A5 | c.3051A>C (p.Pro1017=) n.2507A>C c.284A>C c.2727A>C (p.Pro909=) c.624A>C (p.Pro208=) c.3066A>C (p.Pro1022=) c.1386A>C (p.Pro462=) | |
X | g.108625739A>G | CA517925355 | COL4A5 | c.3051A>G (p.Pro1017=) n.2507A>G c.284A>G c.2727A>G (p.Pro909=) c.624A>G (p.Pro208=) c.3066A>G (p.Pro1022=) c.1386A>G (p.Pro462=) | gnomAD v4 |
X | g.108625739A>T | CA517925356 | COL4A5 | c.3051A>T (p.Pro1017=) n.2507A>T c.284A>T c.2727A>T (p.Pro909=) c.624A>T (p.Pro208=) c.3066A>T (p.Pro1022=) c.1386A>T (p.Pro462=) | |
X | g.108625739dup | CA2573159096 | COL4A5 | c.3051dup (p.Gly1018ArgfsTer9) n.2507dup c.284dup c.2727dup (p.Gly910ArgfsTer9) c.624dup (p.Gly209ArgfsTer9) c.3066dup (p.Gly1023ArgfsTer9) c.1386dup (p.Gly463ArgfsTer9) | ClinVar dbSNP |
X | g.108625740G>A | CA413854581 | COL4A5 | c.3052G>A (p.Gly1018Ser) n.2508G>A c.285G>A c.2728G>A (p.Gly910Ser) c.625G>A (p.Gly209Ser) c.3067G>A (p.Gly1023Ser) c.1387G>A (p.Gly463Ser) | ClinVar |
X | g.108625740G>C | CA413854583 | COL4A5 | c.3052G>C (p.Gly1018Arg) n.2508G>C c.285G>C c.2728G>C (p.Gly910Arg) c.625G>C (p.Gly209Arg) c.3067G>C (p.Gly1023Arg) c.1387G>C (p.Gly463Arg) | |
X | g.108625740G= | CA2450697900 | COL4A5 | c.3052G= (p.Gly1018=) n.2508G= c.285G= c.2728G= (p.Gly910=) c.625G= (p.Gly209=) c.3067G= (p.Gly1023=) c.1387G= (p.Gly463=) | |
X | g.108625740G>T | CA413854585 | COL4A5 | c.3052G>T (p.Gly1018Cys) n.2508G>T c.285G>T c.2728G>T (p.Gly910Cys) c.625G>T (p.Gly209Cys) c.3067G>T (p.Gly1023Cys) c.1387G>T (p.Gly463Cys) | ClinVar dbSNP |
X | g.108625741del | CA2695235751 | COL4A5 | c.3053del (p.Gly1018ValfsTer3) n.2509del c.286del c.2729del (p.Gly910ValfsTer3) c.626del (p.Gly209ValfsTer3) c.3068del (p.Gly1023ValfsTer3) c.1388del (p.Gly463ValfsTer3) | |
X | g.108625741G>A | CA413854589 | COL4A5 | c.3053G>A (p.Gly1018Asp) n.2509G>A c.286G>A c.2729G>A (p.Gly910Asp) c.626G>A (p.Gly209Asp) c.3068G>A (p.Gly1023Asp) c.1388G>A (p.Gly463Asp) | ClinVar |
X | g.108625741G>C | CA413854591 | COL4A5 | c.3053G>C (p.Gly1018Ala) n.2509G>C c.286G>C c.2729G>C (p.Gly910Ala) c.626G>C (p.Gly209Ala) c.3068G>C (p.Gly1023Ala) c.1388G>C (p.Gly463Ala) | |
X | g.108625741G= | CA2450697901 | COL4A5 | c.3053G= (p.Gly1018=) n.2509G= c.286G= c.2729G= (p.Gly910=) c.626G= (p.Gly209=) c.3068G= (p.Gly1023=) c.1388G= (p.Gly463=) | |
X | g.108625741G>T | CA413854587 | COL4A5 | c.3053G>T (p.Gly1018Val) n.2509G>T c.286G>T c.2729G>T (p.Gly910Val) c.626G>T (p.Gly209Val) c.3068G>T (p.Gly1023Val) c.1388G>T (p.Gly463Val) | ClinVar |
X | g.108625742T>A | CA517925358 | COL4A5 | c.3054T>A (p.Gly1018=) n.2510T>A c.287T>A c.2730T>A (p.Gly910=) c.627T>A (p.Gly209=) c.3069T>A (p.Gly1023=) c.1389T>A (p.Gly463=) | |
X | g.108625742T>C | CA517925359 | COL4A5 | c.3054T>C (p.Gly1018=) n.2510T>C c.287T>C c.2730T>C (p.Gly910=) c.627T>C (p.Gly209=) c.3069T>C (p.Gly1023=) c.1389T>C (p.Gly463=) | |
X | g.108625742T>G | CA517925360 | COL4A5 | c.3054T>G (p.Gly1018=) n.2510T>G c.287T>G c.2730T>G (p.Gly910=) c.627T>G (p.Gly209=) c.3069T>G (p.Gly1023=) c.1389T>G (p.Gly463=) | |
X | g.108625743C>A | CA413854593 | COL4A5 | c.3055C>A (p.Leu1019Ile) n.2511C>A c.288C>A c.2731C>A (p.Leu911Ile) c.628C>A (p.Leu210Ile) c.3070C>A (p.Leu1024Ile) c.1390C>A (p.Leu464Ile) | |
X | g.108625743C= | CA2450697903 | COL4A5 | c.3055C= (p.Leu1019=) n.2511C= c.288C= c.2731C= (p.Leu911=) c.628C= (p.Leu210=) c.3070C= (p.Leu1024=) c.1390C= (p.Leu464=) | |
X | g.108625743C>G | CA413854595 | COL4A5 | c.3055C>G (p.Leu1019Val) n.2511C>G c.288C>G c.2731C>G (p.Leu911Val) c.628C>G (p.Leu210Val) c.3070C>G (p.Leu1024Val) c.1390C>G (p.Leu464Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108625743C>T | CA413854596 | COL4A5 | c.3055C>T (p.Leu1019Phe) n.2511C>T c.288C>T c.2731C>T (p.Leu911Phe) c.628C>T (p.Leu210Phe) c.3070C>T (p.Leu1024Phe) c.1390C>T (p.Leu464Phe) | |
X | g.108625743_108625744delinsCT | CA2450697902 | COL4A5 | c.3055_3056delinsCT (p.Leu1019=) n.2511_2512delinsCT c.288_289delinsCT c.2731_2732delinsCT (p.Leu911=) c.628_629delinsCT (p.Leu210=) c.3070_3071delinsCT (p.Leu1024=) c.1390_1391delinsCT (p.Leu464=) | |
X | g.108625744T>A | CA413854599 | COL4A5 | c.3056T>A (p.Leu1019His) n.2512T>A c.289T>A c.2732T>A (p.Leu911His) c.629T>A (p.Leu210His) c.3071T>A (p.Leu1024His) c.1391T>A (p.Leu464His) | |
X | g.108625744T>C | CA413854601 | COL4A5 | c.3056T>C (p.Leu1019Pro) n.2512T>C c.289T>C c.2732T>C (p.Leu911Pro) c.629T>C (p.Leu210Pro) c.3071T>C (p.Leu1024Pro) c.1391T>C (p.Leu464Pro) | COSMIC |
X | g.108625744T>G | CA413854603 | COL4A5 | c.3056T>G (p.Leu1019Arg) n.2512T>G c.289T>G c.2732T>G (p.Leu911Arg) c.629T>G (p.Leu210Arg) c.3071T>G (p.Leu1024Arg) c.1391T>G (p.Leu464Arg) | |
X | g.108625745del | CA258799 | COL4A5 | c.3057del (p.Ile1020Ter) n.2513del c.290del c.2733del (p.Ile912Ter) c.630del (p.Ile211Ter) c.3072del (p.Ile1025Ter) c.1392del (p.Ile465Ter) | dbSNP |
X | g.108625745T>A | CA517925361 | COL4A5 | c.3057T>A (p.Leu1019=) n.2513T>A c.290T>A c.2733T>A (p.Leu911=) c.630T>A (p.Leu210=) c.3072T>A (p.Leu1024=) c.1392T>A (p.Leu464=) | gnomAD v4 |
X | g.108625745T>C | CA517925362 | COL4A5 | c.3057T>C (p.Leu1019=) n.2513T>C c.290T>C c.2733T>C (p.Leu911=) c.630T>C (p.Leu210=) c.3072T>C (p.Leu1024=) c.1392T>C (p.Leu464=) | COSMIC COSMIC |
X | g.108625745T>G | CA517925363 | COL4A5 | c.3057T>G (p.Leu1019=) n.2513T>G c.290T>G c.2733T>G (p.Leu911=) c.630T>G (p.Leu210=) c.3072T>G (p.Leu1024=) c.1392T>G (p.Leu464=) | |
X | g.108625746A= | CA2450697904 | COL4A5 | c.3058A= (p.Ile1020=) n.2514A= c.291A= c.2734A= (p.Ile912=) c.631A= (p.Ile211=) c.3073A= (p.Ile1025=) c.1393A= (p.Ile465=) | |
X | g.108625746A>C | CA413854606 | COL4A5 | c.3058A>C (p.Ile1020Leu) n.2514A>C c.291A>C c.2734A>C (p.Ile912Leu) c.631A>C (p.Ile211Leu) c.3073A>C (p.Ile1025Leu) c.1393A>C (p.Ile465Leu) | |
X | g.108625746A>G | CA10489025 | COL4A5 | c.3058A>G (p.Ile1020Val) n.2514A>G c.291A>G c.2734A>G (p.Ile912Val) c.631A>G (p.Ile211Val) c.3073A>G (p.Ile1025Val) c.1393A>G (p.Ile465Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108625746A>T | CA413854608 | COL4A5 | c.3058A>T (p.Ile1020Leu) n.2514A>T c.291A>T c.2734A>T (p.Ile912Leu) c.631A>T (p.Ile211Leu) c.3073A>T (p.Ile1025Leu) c.1393A>T (p.Ile465Leu) | |
X | g.108625747T>A | CA413854610 | COL4A5 | c.3059T>A (p.Ile1020Lys) n.2515T>A c.292T>A c.2735T>A (p.Ile912Lys) c.632T>A (p.Ile211Lys) c.3074T>A (p.Ile1025Lys) c.1394T>A (p.Ile465Lys) | |
X | g.108625747T>C | CA413854611 | COL4A5 | c.3059T>C (p.Ile1020Thr) n.2515T>C c.292T>C c.2735T>C (p.Ile912Thr) c.632T>C (p.Ile211Thr) c.3074T>C (p.Ile1025Thr) c.1394T>C (p.Ile465Thr) | dbSNP |
X | g.108625747T>G | CA413854612 | COL4A5 | c.3059T>G (p.Ile1020Arg) n.2515T>G c.292T>G c.2735T>G (p.Ile912Arg) c.632T>G (p.Ile211Arg) c.3074T>G (p.Ile1025Arg) c.1394T>G (p.Ile465Arg) | |
X | g.108625747T= | CA2450697905 | COL4A5 | c.3059T= (p.Ile1020=) n.2515T= c.292T= c.2735T= (p.Ile912=) c.632T= (p.Ile211=) c.3074T= (p.Ile1025=) c.1394T= (p.Ile465=) | |
X | g.108625747dup | CA2695235752 | COL4A5 | c.3059dup (p.Gly1021ArgfsTer6) n.2515dup c.292dup c.2735dup (p.Gly913ArgfsTer6) c.632dup (p.Gly212ArgfsTer6) c.3074dup (p.Gly1026ArgfsTer6) c.1394dup (p.Gly466ArgfsTer6) | |
X | g.108625748A>C | CA517925364 | COL4A5 | c.3060A>C (p.Ile1020=) n.2516A>C c.293A>C c.2736A>C (p.Ile912=) c.633A>C (p.Ile211=) c.3075A>C (p.Ile1025=) c.1395A>C (p.Ile465=) | |
X | g.108625748A>G | CA413854615 | COL4A5 | c.3060A>G (p.Ile1020Met) n.2516A>G c.293A>G c.2736A>G (p.Ile912Met) c.633A>G (p.Ile211Met) c.3075A>G (p.Ile1025Met) c.1395A>G (p.Ile465Met) | gnomAD v4 |
X | g.108625748A>T | CA517925365 | COL4A5 | c.3060A>T (p.Ile1020=) n.2516A>T c.293A>T c.2736A>T (p.Ile912=) c.633A>T (p.Ile211=) c.3075A>T (p.Ile1025=) c.1395A>T (p.Ile465=) | |
X | g.108625749G>A | CA413854617 | COL4A5 | c.3061G>A (p.Gly1021Arg) n.2517G>A c.294G>A c.2737G>A (p.Gly913Arg) c.634G>A (p.Gly212Arg) c.3076G>A (p.Gly1026Arg) c.1396G>A (p.Gly466Arg) | |
X | g.108625749G>C | CA413854620 | COL4A5 | c.3061G>C (p.Gly1021Arg) n.2517G>C c.294G>C c.2737G>C (p.Gly913Arg) c.634G>C (p.Gly212Arg) c.3076G>C (p.Gly1026Arg) c.1396G>C (p.Gly466Arg) | |
X | g.108625749G>T | CA413854618 | COL4A5 | c.3061G>T (p.Gly1021Ter) n.2517G>T c.294G>T c.2737G>T (p.Gly913Ter) c.634G>T (p.Gly212Ter) c.3076G>T (p.Gly1026Ter) c.1396G>T (p.Gly466Ter) | |
X | g.108625750G>A | CA413854623 | COL4A5 | c.3062G>A (p.Gly1021Glu) n.2518G>A c.295G>A c.2738G>A (p.Gly913Glu) c.635G>A (p.Gly212Glu) c.3077G>A (p.Gly1026Glu) c.1397G>A (p.Gly466Glu) | dbSNP |
X | g.108625750G>C | CA413854625 | COL4A5 | c.3062G>C (p.Gly1021Ala) n.2518G>C c.295G>C c.2738G>C (p.Gly913Ala) c.635G>C (p.Gly212Ala) c.3077G>C (p.Gly1026Ala) c.1397G>C (p.Gly466Ala) | COSMIC |
X | g.108625750G= | CA2450697906 | COL4A5 | c.3062G= (p.Gly1021=) n.2518G= c.295G= c.2738G= (p.Gly913=) c.635G= (p.Gly212=) c.3077G= (p.Gly1026=) c.1397G= (p.Gly466=) | |
X | g.108625750G>T | CA413854626 | COL4A5 | c.3062G>T (p.Gly1021Val) n.2518G>T c.295G>T c.2738G>T (p.Gly913Val) c.635G>T (p.Gly212Val) c.3077G>T (p.Gly1026Val) c.1397G>T (p.Gly466Val) | |
X | g.108625751A= | CA2450697907 | COL4A5 | c.3063A= (p.Gly1021=) n.2519A= c.296A= c.2739A= (p.Gly913=) c.636A= (p.Gly212=) c.3078A= (p.Gly1026=) c.1398A= (p.Gly466=) | |
X | g.108625751A>C | CA517925366 | COL4A5 | c.3063A>C (p.Gly1021=) n.2519A>C c.296A>C c.2739A>C (p.Gly913=) c.636A>C (p.Gly212=) c.3078A>C (p.Gly1026=) c.1398A>C (p.Gly466=) | gnomAD v4 |
X | g.108625751A>G | CA517925367 | COL4A5 | c.3063A>G (p.Gly1021=) n.2519A>G c.296A>G c.2739A>G (p.Gly913=) c.636A>G (p.Gly212=) c.3078A>G (p.Gly1026=) c.1398A>G (p.Gly466=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108625751A>T | CA517925368 | COL4A5 | c.3063A>T (p.Gly1021=) n.2519A>T c.296A>T c.2739A>T (p.Gly913=) c.636A>T (p.Gly212=) c.3078A>T (p.Gly1026=) c.1398A>T (p.Gly466=) | |
X | g.108625752C>A | CA413854628 | COL4A5 | c.3064C>A (p.Pro1022Thr) n.2520C>A c.297C>A c.2740C>A (p.Pro914Thr) c.637C>A (p.Pro213Thr) c.3079C>A (p.Pro1027Thr) c.1399C>A (p.Pro467Thr) | dbSNP gnomAD v4 |
X | g.108625752C= | CA2450697908 | COL4A5 | c.3064C= (p.Pro1022=) n.2520C= c.297C= c.2740C= (p.Pro914=) c.637C= (p.Pro213=) c.3079C= (p.Pro1027=) c.1399C= (p.Pro467=) | |
X | g.108625752C>G | CA413854630 | COL4A5 | c.3064C>G (p.Pro1022Ala) n.2520C>G c.297C>G c.2740C>G (p.Pro914Ala) c.637C>G (p.Pro213Ala) c.3079C>G (p.Pro1027Ala) c.1399C>G (p.Pro467Ala) | |
X | g.108625752C>T | CA413854632 | COL4A5 | c.3064C>T (p.Pro1022Ser) n.2520C>T c.297C>T c.2740C>T (p.Pro914Ser) c.637C>T (p.Pro213Ser) c.3079C>T (p.Pro1027Ser) c.1399C>T (p.Pro467Ser) | gnomAD v4 |
X | g.108625753C>A | CA334052342 | COL4A5 | c.3065C>A (p.Pro1022His) n.2521C>A c.298C>A c.2741C>A (p.Pro914His) c.638C>A (p.Pro213His) c.3080C>A (p.Pro1027His) c.1400C>A (p.Pro467His) | dbSNP |
X | g.108625753C= | CA2450697909 | COL4A5 | c.3065C= (p.Pro1022=) n.2521C= c.298C= c.2741C= (p.Pro914=) c.638C= (p.Pro213=) c.3080C= (p.Pro1027=) c.1400C= (p.Pro467=) | |
X | g.108625753C>G | CA413854634 | COL4A5 | c.3065C>G (p.Pro1022Arg) n.2521C>G c.298C>G c.2741C>G (p.Pro914Arg) c.638C>G (p.Pro213Arg) c.3080C>G (p.Pro1027Arg) c.1400C>G (p.Pro467Arg) | |
X | g.108625753C>T | CA413854636 | COL4A5 | c.3065C>T (p.Pro1022Leu) n.2521C>T c.298C>T c.2741C>T (p.Pro914Leu) c.638C>T (p.Pro213Leu) c.3080C>T (p.Pro1027Leu) c.1400C>T (p.Pro467Leu) | |
X | g.108625754T>A | CA517925369 | COL4A5 | c.3066T>A (p.Pro1022=) n.2522T>A c.299T>A c.2742T>A (p.Pro914=) c.639T>A (p.Pro213=) c.3081T>A (p.Pro1027=) c.1401T>A (p.Pro467=) | |
X | g.108625754T>C | CA517925370 | COL4A5 | c.3066T>C (p.Pro1022=) n.2522T>C c.299T>C c.2742T>C (p.Pro914=) c.639T>C (p.Pro213=) c.3081T>C (p.Pro1027=) c.1401T>C (p.Pro467=) | |
X | g.108625754T>G | CA517925372 | COL4A5 | c.3066T>G (p.Pro1022=) n.2522T>G c.299T>G c.2742T>G (p.Pro914=) c.639T>G (p.Pro213=) c.3081T>G (p.Pro1027=) c.1401T>G (p.Pro467=) | |
X | g.108625755C>A | CA10489026 | COL4A5 | c.3067C>A (p.Pro1023Thr) n.2523C>A c.300C>A c.2743C>A (p.Pro915Thr) c.640C>A (p.Pro214Thr) c.3082C>A (p.Pro1028Thr) c.1402C>A (p.Pro468Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108625755C= | CA2450697910 | COL4A5 | c.3067C= (p.Pro1023=) n.2523C= c.300C= c.2743C= (p.Pro915=) c.640C= (p.Pro214=) c.3082C= (p.Pro1028=) c.1402C= (p.Pro468=) | |
X | g.108625755C>G | CA413854638 | COL4A5 | c.3067C>G (p.Pro1023Ala) n.2523C>G c.300C>G c.2743C>G (p.Pro915Ala) c.640C>G (p.Pro214Ala) c.3082C>G (p.Pro1028Ala) c.1402C>G (p.Pro468Ala) | gnomAD v4 |
X | g.108625755C>T | CA413854640 | COL4A5 | c.3067C>T (p.Pro1023Ser) n.2523C>T c.300C>T c.2743C>T (p.Pro915Ser) c.640C>T (p.Pro214Ser) c.3082C>T (p.Pro1028Ser) c.1402C>T (p.Pro468Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.108625756C>A | CA413854644 | COL4A5 | c.3068C>A (p.Pro1023His) n.2524C>A c.301C>A c.2744C>A (p.Pro915His) c.641C>A (p.Pro214His) c.3083C>A (p.Pro1028His) c.1403C>A (p.Pro468His) | |
X | g.108625756C>G | CA413854646 | COL4A5 | c.3068C>G (p.Pro1023Arg) n.2524C>G c.301C>G c.2744C>G (p.Pro915Arg) c.641C>G (p.Pro214Arg) c.3083C>G (p.Pro1028Arg) c.1403C>G (p.Pro468Arg) | |
X | g.108625756C>T | CA413854642 | COL4A5 | c.3068C>T (p.Pro1023Leu) n.2524C>T c.301C>T c.2744C>T (p.Pro915Leu) c.641C>T (p.Pro214Leu) c.3083C>T (p.Pro1028Leu) c.1403C>T (p.Pro468Leu) | |
X | g.108625757T>A | CA517925373 | COL4A5 | c.3069T>A (p.Pro1023=) n.2525T>A c.302T>A c.2745T>A (p.Pro915=) c.642T>A (p.Pro214=) c.3084T>A (p.Pro1028=) c.1404T>A (p.Pro468=) | |
X | g.108625757T>C | CA517925374 | COL4A5 | c.3069T>C (p.Pro1023=) n.2525T>C c.302T>C c.2745T>C (p.Pro915=) c.642T>C (p.Pro214=) c.3084T>C (p.Pro1028=) c.1404T>C (p.Pro468=) | dbSNP gnomAD v4 |
X | g.108625757T>G | CA517925375 | COL4A5 | c.3069T>G (p.Pro1023=) n.2525T>G c.302T>G c.2745T>G (p.Pro915=) c.642T>G (p.Pro214=) c.3084T>G (p.Pro1028=) c.1404T>G (p.Pro468=) | COSMIC |
X | g.108625757T= | CA2450697911 | COL4A5 | c.3069T= (p.Pro1023=) n.2525T= c.302T= c.2745T= (p.Pro915=) c.642T= (p.Pro214=) c.3084T= (p.Pro1028=) c.1404T= (p.Pro468=) | |
X | g.108625758G>A | CA413854648 | COL4A5 | c.3070G>A (p.Gly1024Arg) n.2526G>A c.303G>A c.2746G>A (p.Gly916Arg) c.643G>A (p.Gly215Arg) c.3085G>A (p.Gly1029Arg) c.1405G>A (p.Gly469Arg) | |
X | g.108625758G>C | CA413854651 | COL4A5 | c.3070G>C (p.Gly1024Arg) n.2526G>C c.303G>C c.2746G>C (p.Gly916Arg) c.643G>C (p.Gly215Arg) c.3085G>C (p.Gly1029Arg) c.1405G>C (p.Gly469Arg) | |
X | g.108625758G>T | CA413854650 | COL4A5 | c.3070G>T (p.Gly1024Ter) n.2526G>T c.303G>T c.2746G>T (p.Gly916Ter) c.643G>T (p.Gly215Ter) c.3085G>T (p.Gly1029Ter) c.1405G>T (p.Gly469Ter) | |
X | g.108625761_108625769del | CA2697544690 | COL4A5 | c.3073_3081del (p.Leu1025_Gly1027del) n.2529_2537del c.306_314del c.2749_2757del (p.Leu917_Gly919del) c.646_654del (p.Leu216_Gly218del) c.3088_3096del (p.Leu1030_Gly1032del) c.1408_1416del (p.Leu470_Gly472del) | ClinVar |
X | g.108625759G>A | CA413854653 | COL4A5 | c.3071G>A (p.Gly1024Glu) n.2527G>A c.304G>A c.2747G>A (p.Gly916Glu) c.644G>A (p.Gly215Glu) c.3086G>A (p.Gly1029Glu) c.1406G>A (p.Gly469Glu) | |
X | g.108625759G>C | CA413854656 | COL4A5 | c.3071G>C (p.Gly1024Ala) n.2527G>C c.304G>C c.2747G>C (p.Gly916Ala) c.644G>C (p.Gly215Ala) c.3086G>C (p.Gly1029Ala) c.1406G>C (p.Gly469Ala) | |
X | g.108625759G= | CA2450697912 | COL4A5 | c.3071G= (p.Gly1024=) n.2527G= c.304G= c.2747G= (p.Gly916=) c.644G= (p.Gly215=) c.3086G= (p.Gly1029=) c.1406G= (p.Gly469=) | |
X | g.108625759G>T | CA413854655 | COL4A5 | c.3071G>T (p.Gly1024Val) n.2527G>T c.304G>T c.2747G>T (p.Gly916Val) c.644G>T (p.Gly215Val) c.3086G>T (p.Gly1029Val) c.1406G>T (p.Gly469Val) | |
X | g.108625760del | CA2499226322 | COL4A5 | c.3072del (p.Gly1027GlufsTer?) n.2528del c.305del c.2748del (p.Gly919GlufsTer?) c.645del (p.Gly218GlufsTer?) c.3087del (p.Gly1032GlufsTer?) c.1407del (p.Gly472GlufsTer?) | ClinVar dbSNP |
X | g.108625760A>C | CA517925376 | COL4A5 | c.3072A>C (p.Gly1024=) n.2528A>C c.305A>C c.2748A>C (p.Gly916=) c.645A>C (p.Gly215=) c.3087A>C (p.Gly1029=) c.1407A>C (p.Gly469=) | |
X | g.108625760A>G | CA517925377 | COL4A5 | c.3072A>G (p.Gly1024=) n.2528A>G c.305A>G c.2748A>G (p.Gly916=) c.645A>G (p.Gly215=) c.3087A>G (p.Gly1029=) c.1407A>G (p.Gly469=) | |
X | g.108625760A>T | CA517925378 | COL4A5 | c.3072A>T (p.Gly1024=) n.2528A>T c.305A>T c.2748A>T (p.Gly916=) c.645A>T (p.Gly215=) c.3087A>T (p.Gly1029=) c.1407A>T (p.Gly469=) | |
X | g.108625761C>A | CA413854659 | COL4A5 | c.3073C>A (p.Leu1025Ile) n.2529C>A c.306C>A c.2749C>A (p.Leu917Ile) c.646C>A (p.Leu216Ile) c.3088C>A (p.Leu1030Ile) c.1408C>A (p.Leu470Ile) | |
X | g.108625761C>G | CA413854662 | COL4A5 | c.3073C>G (p.Leu1025Val) n.2529C>G c.306C>G c.2749C>G (p.Leu917Val) c.646C>G (p.Leu216Val) c.3088C>G (p.Leu1030Val) c.1408C>G (p.Leu470Val) | |
X | g.108625761C>T | CA413854661 | COL4A5 | c.3073C>T (p.Leu1025Phe) n.2529C>T c.306C>T c.2749C>T (p.Leu917Phe) c.646C>T (p.Leu216Phe) c.3088C>T (p.Leu1030Phe) c.1408C>T (p.Leu470Phe) | |
X | g.108625762T>A | CA413854665 | COL4A5 | c.3074T>A (p.Leu1025His) n.2530T>A c.307T>A c.2750T>A (p.Leu917His) c.647T>A (p.Leu216His) c.3089T>A (p.Leu1030His) c.1409T>A (p.Leu470His) | gnomAD v4 |
X | g.108625762T>C | CA413854668 | COL4A5 | c.3074T>C (p.Leu1025Pro) n.2530T>C c.307T>C c.2750T>C (p.Leu917Pro) c.647T>C (p.Leu216Pro) c.3089T>C (p.Leu1030Pro) c.1409T>C (p.Leu470Pro) | |
X | g.108625762T>G | CA413854666 | COL4A5 | c.3074T>G (p.Leu1025Arg) n.2530T>G c.307T>G c.2750T>G (p.Leu917Arg) c.647T>G (p.Leu216Arg) c.3089T>G (p.Leu1030Arg) c.1409T>G (p.Leu470Arg) | COSMIC |
X | g.108625763T>A | CA517925379 | COL4A5 | c.3075T>A (p.Leu1025=) n.2531T>A c.308T>A c.2751T>A (p.Leu917=) c.648T>A (p.Leu216=) c.3090T>A (p.Leu1030=) c.1410T>A (p.Leu470=) | |
X | g.108625763T>C | CA517925380 | COL4A5 | c.3075T>C (p.Leu1025=) n.2531T>C c.308T>C c.2751T>C (p.Leu917=) c.648T>C (p.Leu216=) c.3090T>C (p.Leu1030=) c.1410T>C (p.Leu470=) | |
X | g.108625763T>G | CA517925381 | COL4A5 | c.3075T>G (p.Leu1025=) n.2531T>G c.308T>G c.2751T>G (p.Leu917=) c.648T>G (p.Leu216=) c.3090T>G (p.Leu1030=) c.1410T>G (p.Leu470=) | |
X | g.108625764A>C | CA413854670 | COL4A5 | c.3076A>C (p.Lys1026Gln) n.2532A>C c.309A>C c.2752A>C (p.Lys918Gln) c.649A>C (p.Lys217Gln) c.3091A>C (p.Lys1031Gln) c.1411A>C (p.Lys471Gln) | gnomAD v4 |
X | g.108625764A>G | CA413854674 | COL4A5 | c.3076A>G (p.Lys1026Glu) n.2532A>G c.309A>G c.2752A>G (p.Lys918Glu) c.649A>G (p.Lys217Glu) c.3091A>G (p.Lys1031Glu) c.1411A>G (p.Lys471Glu) | |
X | g.108625764A>T | CA413854672 | COL4A5 | c.3076A>T (p.Lys1026Ter) n.2532A>T c.309A>T c.2752A>T (p.Lys918Ter) c.649A>T (p.Lys217Ter) c.3091A>T (p.Lys1031Ter) c.1411A>T (p.Lys471Ter) | |
X | g.108625765A>C | CA413854676 | COL4A5 | c.3077A>C (p.Lys1026Thr) n.2533A>C c.310A>C c.2753A>C (p.Lys918Thr) c.650A>C (p.Lys217Thr) c.3092A>C (p.Lys1031Thr) c.1412A>C (p.Lys471Thr) | gnomAD v4 |
X | g.108625765A>G | CA413854679 | COL4A5 | c.3077A>G (p.Lys1026Arg) n.2533A>G c.310A>G c.2753A>G (p.Lys918Arg) c.650A>G (p.Lys217Arg) c.3092A>G (p.Lys1031Arg) c.1412A>G (p.Lys471Arg) | |
X | g.108625765A>T | CA413854678 | COL4A5 | c.3077A>T (p.Lys1026Ile) n.2533A>T c.310A>T c.2753A>T (p.Lys918Ile) c.650A>T (p.Lys217Ile) c.3092A>T (p.Lys1031Ile) c.1412A>T (p.Lys471Ile) | |
X | g.108625766A>C | CA413854681 | COL4A5 | c.3078A>C (p.Lys1026Asn) n.2534A>C c.311A>C c.2754A>C (p.Lys918Asn) c.651A>C (p.Lys217Asn) c.3093A>C (p.Lys1031Asn) c.1413A>C (p.Lys471Asn) | |
X | g.108625766A>G | CA517925382 | COL4A5 | c.3078A>G (p.Lys1026=) n.2534A>G c.311A>G c.2754A>G (p.Lys918=) c.651A>G (p.Lys217=) c.3093A>G (p.Lys1031=) c.1413A>G (p.Lys471=) | |
X | g.108625766A>T | CA413854683 | COL4A5 | c.3078A>T (p.Lys1026Asn) n.2534A>T c.311A>T c.2754A>T (p.Lys918Asn) c.651A>T (p.Lys217Asn) c.3093A>T (p.Lys1031Asn) c.1413A>T (p.Lys471Asn) | |
X | g.108625767G>A | CA413854685 | COL4A5 | c.3079G>A (p.Gly1027Arg) n.2535G>A c.312G>A c.2755G>A (p.Gly919Arg) c.652G>A (p.Gly218Arg) c.3094G>A (p.Gly1032Arg) c.1414G>A (p.Gly472Arg) | ClinVar dbSNP |
X | g.108625767G>C | CA413854687 | COL4A5 | c.3079G>C (p.Gly1027Arg) n.2535G>C c.312G>C c.2755G>C (p.Gly919Arg) c.652G>C (p.Gly218Arg) c.3094G>C (p.Gly1032Arg) c.1414G>C (p.Gly472Arg) | |
X | g.108625767G>T | CA413854688 | COL4A5 | c.3079G>T (p.Gly1027Ter) n.2535G>T c.312G>T c.2755G>T (p.Gly919Ter) c.652G>T (p.Gly218Ter) c.3094G>T (p.Gly1032Ter) c.1414G>T (p.Gly472Ter) | |
X | g.108625768G>A | CA413854690 | COL4A5 | c.3080G>A (p.Gly1027Glu) n.2536G>A c.313G>A c.2756G>A (p.Gly919Glu) c.653G>A (p.Gly218Glu) c.3095G>A (p.Gly1032Glu) c.1415G>A (p.Gly472Glu) | ClinVar dbSNP COSMIC |
X | g.108625768G>C | CA413854692 | COL4A5 | c.3080G>C (p.Gly1027Ala) n.2536G>C c.313G>C c.2756G>C (p.Gly919Ala) c.653G>C (p.Gly218Ala) c.3095G>C (p.Gly1032Ala) c.1415G>C (p.Gly472Ala) | |
X | g.108625768G= | CA2450697913 | COL4A5 | c.3080G= (p.Gly1027=) n.2536G= c.313G= c.2756G= (p.Gly919=) c.653G= (p.Gly218=) c.3095G= (p.Gly1032=) c.1415G= (p.Gly472=) | |
X | g.108625768G>T | CA258800 | COL4A5 | c.3080G>T (p.Gly1027Val) n.2536G>T c.313G>T c.2756G>T (p.Gly919Val) c.653G>T (p.Gly218Val) c.3095G>T (p.Gly1032Val) c.1415G>T (p.Gly472Val) | dbSNP |