Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108666438_108666454del | CA2822901930 | COL4A5 | c.3455-58_3455-42del (n.3455-58_3455-42del) c.3131-58_3131-42del (n.3131-58_3131-42del) c.1028-58_1028-42del (n.1028-58_1028-42del) c.3470-58_3470-42del (n.3470-58_3470-42del) c.1790-58_1790-42del (n.1790-58_1790-42del) | |
X | g.108666447A>C | CA2694441392 | COL4A5 | c.3455-49A>C (n.3455-49A>C) c.3131-49A>C (n.3131-49A>C) c.1028-49A>C (n.1028-49A>C) c.3470-49A>C (n.3470-49A>C) c.1790-49A>C (n.1790-49A>C) | gnomAD v4 |
X | g.108666449T>C | CA10489117 | COL4A5 | c.3455-47T>C (n.3455-47T>C) c.3131-47T>C (n.3131-47T>C) c.1028-47T>C (n.1028-47T>C) c.3470-47T>C (n.3470-47T>C) c.1790-47T>C (n.1790-47T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108666449T= | CA2450712295 | COL4A5 | c.3455-47T= (n.3455-47T=) c.3131-47T= (n.3131-47T=) c.1028-47T= (n.1028-47T=) c.3470-47T= (n.3470-47T=) c.1790-47T= (n.1790-47T=) | |
X | g.108666450T>C | CA1136188976 | COL4A5 | c.3455-46T>C (n.3455-46T>C) c.3131-46T>C (n.3131-46T>C) c.1028-46T>C (n.1028-46T>C) c.3470-46T>C (n.3470-46T>C) c.1790-46T>C (n.1790-46T>C) | dbSNP gnomAD v4 |
X | g.108666450T= | CA2450712296 | COL4A5 | c.3455-46T= (n.3455-46T=) c.3131-46T= (n.3131-46T=) c.1028-46T= (n.1028-46T=) c.3470-46T= (n.3470-46T=) c.1790-46T= (n.1790-46T=) | |
X | g.108666452del | CA2579676861 | COL4A5 | c.3455-44del (n.3455-44del) c.3131-44del (n.3131-44del) c.1028-44del (n.1028-44del) c.3470-44del (n.3470-44del) c.1790-44del (n.1790-44del) | |
X | g.108666455A>G | CA2579676862 | COL4A5 | c.3455-41A>G (n.3455-41A>G) c.3131-41A>G (n.3131-41A>G) c.1028-41A>G (n.1028-41A>G) c.3470-41A>G (n.3470-41A>G) c.1790-41A>G (n.1790-41A>G) | |
X | g.108666456T>C | CA334045577 | COL4A5 | c.3455-40T>C (n.3455-40T>C) c.3131-40T>C (n.3131-40T>C) c.1028-40T>C (n.1028-40T>C) c.3470-40T>C (n.3470-40T>C) c.1790-40T>C (n.1790-40T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666456T= | CA2450712297 | COL4A5 | c.3455-40T= (n.3455-40T=) c.3131-40T= (n.3131-40T=) c.1028-40T= (n.1028-40T=) c.3470-40T= (n.3470-40T=) c.1790-40T= (n.1790-40T=) | |
X | g.108666457del | CA2694441393 | COL4A5 | c.3455-39del (n.3455-39del) c.3131-39del (n.3131-39del) c.1028-39del (n.1028-39del) c.3470-39del (n.3470-39del) c.1790-39del (n.1790-39del) | gnomAD v4 |
X | g.108666458G>T | CA2579676863 | COL4A5 | c.3455-38G>T (n.3455-38G>T) c.3131-38G>T (n.3131-38G>T) c.1028-38G>T (n.1028-38G>T) c.3470-38G>T (n.3470-38G>T) c.1790-38G>T (n.1790-38G>T) | gnomAD v4 |
X | g.108666459del | CA2694441394 | COL4A5 | c.3455-37del (n.3455-37del) c.3131-37del (n.3131-37del) c.1028-37del (n.1028-37del) c.3470-37del (n.3470-37del) c.1790-37del (n.1790-37del) | gnomAD v4 |
X | g.108666459G>A | CA2694441395 | COL4A5 | c.3455-37G>A (n.3455-37G>A) c.3131-37G>A (n.3131-37G>A) c.1028-37G>A (n.1028-37G>A) c.3470-37G>A (n.3470-37G>A) c.1790-37G>A (n.1790-37G>A) | gnomAD v4 |
X | g.108666464C>A | CA2579676864 | COL4A5 | c.3455-32C>A (n.3455-32C>A) c.3131-32C>A (n.3131-32C>A) c.1028-32C>A (n.1028-32C>A) c.3470-32C>A (n.3470-32C>A) c.1790-32C>A (n.1790-32C>A) | gnomAD v4 |
X | g.108666464C>T | CA2694441396 | COL4A5 | c.3455-32C>T (n.3455-32C>T) c.3131-32C>T (n.3131-32C>T) c.1028-32C>T (n.1028-32C>T) c.3470-32C>T (n.3470-32C>T) c.1790-32C>T (n.1790-32C>T) | gnomAD v4 |
X | g.108666465T>A | CA1136188985 | COL4A5 | c.3455-31T>A (n.3455-31T>A) c.3131-31T>A (n.3131-31T>A) c.1028-31T>A (n.1028-31T>A) c.3470-31T>A (n.3470-31T>A) c.1790-31T>A (n.1790-31T>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108666465T>C | CA10489118 | COL4A5 | c.3455-31T>C (n.3455-31T>C) c.3131-31T>C (n.3131-31T>C) c.1028-31T>C (n.1028-31T>C) c.3470-31T>C (n.3470-31T>C) c.1790-31T>C (n.1790-31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108666465T= | CA2450712298 | COL4A5 | c.3455-31T= (n.3455-31T=) c.3131-31T= (n.3131-31T=) c.1028-31T= (n.1028-31T=) c.3470-31T= (n.3470-31T=) c.1790-31T= (n.1790-31T=) | |
X | g.108666466G>T | CA2694441398 | COL4A5 | c.3455-30G>T (n.3455-30G>T) c.3131-30G>T (n.3131-30G>T) c.1028-30G>T (n.1028-30G>T) c.3470-30G>T (n.3470-30G>T) c.1790-30G>T (n.1790-30G>T) | gnomAD v4 |
X | g.108666468del | CA2694441397 | COL4A5 | c.3455-28del (n.3455-28del) c.3131-28del (n.3131-28del) c.1028-28del (n.1028-28del) c.3470-28del (n.3470-28del) c.1790-28del (n.1790-28del) | gnomAD v4 |
X | g.108666467G>A | CA2694441399 | COL4A5 | c.3455-29G>A (n.3455-29G>A) c.3131-29G>A (n.3131-29G>A) c.1028-29G>A (n.1028-29G>A) c.3470-29G>A (n.3470-29G>A) c.1790-29G>A (n.1790-29G>A) | gnomAD v4 |
X | g.108666467G>T | CA2561305175 | COL4A5 | c.3455-29G>T (n.3455-29G>T) c.3131-29G>T (n.3131-29G>T) c.1028-29G>T (n.1028-29G>T) c.3470-29G>T (n.3470-29G>T) c.1790-29G>T (n.1790-29G>T) | |
X | g.108666468G= | CA2450712299 | COL4A5 | c.3455-28G= (n.3455-28G=) c.3131-28G= (n.3131-28G=) c.1028-28G= (n.1028-28G=) c.3470-28G= (n.3470-28G=) c.1790-28G= (n.1790-28G=) | |
X | g.108666468G>T | CA334045583 | COL4A5 | c.3455-28G>T (n.3455-28G>T) c.3131-28G>T (n.3131-28G>T) c.1028-28G>T (n.1028-28G>T) c.3470-28G>T (n.3470-28G>T) c.1790-28G>T (n.1790-28G>T) | dbSNP gnomAD v4 |
X | g.108666470G>A | CA2694441400 | COL4A5 | c.3455-26G>A (n.3455-26G>A) c.3131-26G>A (n.3131-26G>A) c.1028-26G>A (n.1028-26G>A) c.3470-26G>A (n.3470-26G>A) c.1790-26G>A (n.1790-26G>A) | gnomAD v4 |
X | g.108666471T>A | CA2694441401 | COL4A5 | c.3455-25T>A (n.3455-25T>A) c.3131-25T>A (n.3131-25T>A) c.1028-25T>A (n.1028-25T>A) c.3470-25T>A (n.3470-25T>A) c.1790-25T>A (n.1790-25T>A) | gnomAD v4 |
X | g.108666471T>C | CA2694441402 | COL4A5 | c.3455-25T>C (n.3455-25T>C) c.3131-25T>C (n.3131-25T>C) c.1028-25T>C (n.1028-25T>C) c.3470-25T>C (n.3470-25T>C) c.1790-25T>C (n.1790-25T>C) | gnomAD v4 |
X | g.108666472A>G | CA2694441403 | COL4A5 | c.3455-24A>G (n.3455-24A>G) c.3131-24A>G (n.3131-24A>G) c.1028-24A>G (n.1028-24A>G) c.3470-24A>G (n.3470-24A>G) c.1790-24A>G (n.1790-24A>G) | gnomAD v4 |
X | g.108666473A>G | CA2694441404 | COL4A5 | c.3455-23A>G (n.3455-23A>G) c.3131-23A>G (n.3131-23A>G) c.1028-23A>G (n.1028-23A>G) c.3470-23A>G (n.3470-23A>G) c.1790-23A>G (n.1790-23A>G) | gnomAD v4 |
X | g.108666474C>A | CA869812057 | COL4A5 | c.3455-22C>A (n.3455-22C>A) c.3131-22C>A (n.3131-22C>A) c.1028-22C>A (n.1028-22C>A) c.3470-22C>A (n.3470-22C>A) c.1790-22C>A (n.1790-22C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108666474C= | CA2450712300 | COL4A5 | c.3455-22C= (n.3455-22C=) c.3131-22C= (n.3131-22C=) c.1028-22C= (n.1028-22C=) c.3470-22C= (n.3470-22C=) c.1790-22C= (n.1790-22C=) | |
X | g.108666474C>T | CA2694441405 | COL4A5 | c.3455-22C>T (n.3455-22C>T) c.3131-22C>T (n.3131-22C>T) c.1028-22C>T (n.1028-22C>T) c.3470-22C>T (n.3470-22C>T) c.1790-22C>T (n.1790-22C>T) | gnomAD v4 |
X | g.108666475C>A | CA2694441406 | COL4A5 | c.3455-21C>A (n.3455-21C>A) c.3131-21C>A (n.3131-21C>A) c.1028-21C>A (n.1028-21C>A) c.3470-21C>A (n.3470-21C>A) c.1790-21C>A (n.1790-21C>A) | gnomAD v4 |
X | g.108666475C>T | CA2694441407 | COL4A5 | c.3455-21C>T (n.3455-21C>T) c.3131-21C>T (n.3131-21C>T) c.1028-21C>T (n.1028-21C>T) c.3470-21C>T (n.3470-21C>T) c.1790-21C>T (n.1790-21C>T) | gnomAD v4 |
X | g.108666476T>C | CA643636640 | COL4A5 | c.3455-20T>C (n.3455-20T>C) c.3131-20T>C (n.3131-20T>C) c.1028-20T>C (n.1028-20T>C) c.3470-20T>C (n.3470-20T>C) c.1790-20T>C (n.1790-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108666476T= | CA2450712301 | COL4A5 | c.3455-20T= (n.3455-20T=) c.3131-20T= (n.3131-20T=) c.1028-20T= (n.1028-20T=) c.3470-20T= (n.3470-20T=) c.1790-20T= (n.1790-20T=) | |
X | g.108666477G>T | CA2579676865 | COL4A5 | c.3455-19G>T (n.3455-19G>T) c.3131-19G>T (n.3131-19G>T) c.1028-19G>T (n.1028-19G>T) c.3470-19G>T (n.3470-19G>T) c.1790-19G>T (n.1790-19G>T) | gnomAD v4 |
X | g.108666478C>A | CA2694441408 | COL4A5 | c.3455-18C>A (n.3455-18C>A) c.3131-18C>A (n.3131-18C>A) c.1028-18C>A (n.1028-18C>A) c.3470-18C>A (n.3470-18C>A) c.1790-18C>A (n.1790-18C>A) | gnomAD v4 |
X | g.108666478C>T | CA2567772169 | COL4A5 | c.3455-18C>T (n.3455-18C>T) c.3131-18C>T (n.3131-18C>T) c.1028-18C>T (n.1028-18C>T) c.3470-18C>T (n.3470-18C>T) c.1790-18C>T (n.1790-18C>T) | dbSNP gnomAD v4 |
X | g.108666479T>A | CA334045588 | COL4A5 | c.3455-17T>A (n.3455-17T>A) c.3131-17T>A (n.3131-17T>A) c.1028-17T>A (n.1028-17T>A) c.3470-17T>A (n.3470-17T>A) c.1790-17T>A (n.1790-17T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666479T= | CA2450712302 | COL4A5 | c.3455-17T= (n.3455-17T=) c.3131-17T= (n.3131-17T=) c.1028-17T= (n.1028-17T=) c.3470-17T= (n.3470-17T=) c.1790-17T= (n.1790-17T=) | |
X | g.108666480G>A | CA10489119 | COL4A5 | c.3455-16G>A (n.3455-16G>A) c.3131-16G>A (n.3131-16G>A) c.1028-16G>A (n.1028-16G>A) c.3470-16G>A (n.3470-16G>A) c.1790-16G>A (n.1790-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108666480G= | CA2450712303 | COL4A5 | c.3455-16G= (n.3455-16G=) c.3131-16G= (n.3131-16G=) c.1028-16G= (n.1028-16G=) c.3470-16G= (n.3470-16G=) c.1790-16G= (n.1790-16G=) | |
X | g.108666480G>T | CA2694441409 | COL4A5 | c.3455-16G>T (n.3455-16G>T) c.3131-16G>T (n.3131-16G>T) c.1028-16G>T (n.1028-16G>T) c.3470-16G>T (n.3470-16G>T) c.1790-16G>T (n.1790-16G>T) | gnomAD v4 |
X | g.108666481T>A | CA2697544717 | COL4A5 | c.3455-15T>A (n.3455-15T>A) c.3131-15T>A (n.3131-15T>A) c.1028-15T>A (n.1028-15T>A) c.3470-15T>A (n.3470-15T>A) c.1790-15T>A (n.1790-15T>A) | ClinVar |
X | g.108666482A>T | CA2694441410 | COL4A5 | c.3455-14A>T (n.3455-14A>T) c.3131-14A>T (n.3131-14A>T) c.1028-14A>T (n.1028-14A>T) c.3470-14A>T (n.3470-14A>T) c.1790-14A>T (n.1790-14A>T) | gnomAD v4 |
X | g.108666483C>A | CA2694441411 | COL4A5 | c.3455-13C>A (n.3455-13C>A) c.3131-13C>A (n.3131-13C>A) c.1028-13C>A (n.1028-13C>A) c.3470-13C>A (n.3470-13C>A) c.1790-13C>A (n.1790-13C>A) | gnomAD v4 |
X | g.108666483C= | CA2450712304 | COL4A5 | c.3455-13C= (n.3455-13C=) c.3131-13C= (n.3131-13C=) c.1028-13C= (n.1028-13C=) c.3470-13C= (n.3470-13C=) c.1790-13C= (n.1790-13C=) | |
X | g.108666483C>T | CA10489120 | COL4A5 | c.3455-13C>T (n.3455-13C>T) c.3131-13C>T (n.3131-13C>T) c.1028-13C>T (n.1028-13C>T) c.3470-13C>T (n.3470-13C>T) c.1790-13C>T (n.1790-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108666484T>C | CA2694441412 | COL4A5 | c.3455-12T>C (n.3455-12T>C) c.3131-12T>C (n.3131-12T>C) c.1028-12T>C (n.1028-12T>C) c.3470-12T>C (n.3470-12T>C) c.1790-12T>C (n.1790-12T>C) | gnomAD v4 |
X | g.108666485C>A | CA2694441413 | COL4A5 | c.3455-11C>A (n.3455-11C>A) c.3131-11C>A (n.3131-11C>A) c.1028-11C>A (n.1028-11C>A) c.3470-11C>A (n.3470-11C>A) c.1790-11C>A (n.1790-11C>A) | gnomAD v4 |
X | g.108666485C>T | CA2694441414 | COL4A5 | c.3455-11C>T (n.3455-11C>T) c.3131-11C>T (n.3131-11C>T) c.1028-11C>T (n.1028-11C>T) c.3470-11C>T (n.3470-11C>T) c.1790-11C>T (n.1790-11C>T) | gnomAD v4 |
X | g.108666487dup | CA2579676866 | COL4A5 | c.3455-9dup (n.3455-9dup) c.3131-9dup (n.3131-9dup) c.1028-9dup (n.1028-9dup) c.3470-9dup (n.3470-9dup) c.1790-9dup (n.1790-9dup) | |
X | g.108666487A= | CA2450712305 | COL4A5 | c.3455-9A= (n.3455-9A=) c.3131-9A= (n.3131-9A=) c.1028-9A= (n.1028-9A=) c.3470-9A= (n.3470-9A=) c.1790-9A= (n.1790-9A=) | |
X | g.108666487A>G | CA258868 | COL4A5 | c.3455-9A>G (n.3455-9A>G) c.3131-9A>G (n.3131-9A>G) c.1028-9A>G (n.1028-9A>G) c.3470-9A>G (n.3470-9A>G) c.1790-9A>G (n.1790-9A>G) | ClinVar dbSNP |
X | g.108666488T>A | CA2694441415 | COL4A5 | c.3455-8T>A (n.3455-8T>A) c.3131-8T>A (n.3131-8T>A) c.1028-8T>A (n.1028-8T>A) c.3470-8T>A (n.3470-8T>A) c.1790-8T>A (n.1790-8T>A) | gnomAD v4 |
X | g.108666488T>G | CA913190508 | COL4A5 | c.3455-8T>G (n.3455-8T>G) c.3131-8T>G (n.3131-8T>G) c.1028-8T>G (n.1028-8T>G) c.3470-8T>G (n.3470-8T>G) c.1790-8T>G (n.1790-8T>G) | ClinVar dbSNP |
X | g.108666488T= | CA2450712306 | COL4A5 | c.3455-8T= (n.3455-8T=) c.3131-8T= (n.3131-8T=) c.1028-8T= (n.1028-8T=) c.3470-8T= (n.3470-8T=) c.1790-8T= (n.1790-8T=) | |
X | g.108666490T>G | CA2694441416 | COL4A5 | c.3455-6T>G (n.3455-6T>G) c.3131-6T>G (n.3131-6T>G) c.1028-6T>G (n.1028-6T>G) c.3470-6T>G (n.3470-6T>G) c.1790-6T>G (n.1790-6T>G) | gnomAD v4 |
X | g.108666491T>G | CA1136188996 | COL4A5 | c.3455-5T>G (n.3455-5T>G) c.3131-5T>G (n.3131-5T>G) c.1028-5T>G (n.1028-5T>G) c.3470-5T>G (n.3470-5T>G) c.1790-5T>G (n.1790-5T>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108666491T= | CA2450712307 | COL4A5 | c.3455-5T= (n.3455-5T=) c.3131-5T= (n.3131-5T=) c.1028-5T= (n.1028-5T=) c.3470-5T= (n.3470-5T=) c.1790-5T= (n.1790-5T=) | |
X | g.108666492T>G | CA643636641 | COL4A5 | c.3455-4T>G (n.3455-4T>G) c.3131-4T>G (n.3131-4T>G) c.1028-4T>G (n.1028-4T>G) c.3470-4T>G (n.3470-4T>G) c.1790-4T>G (n.1790-4T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108666492T= | CA2450712308 | COL4A5 | c.3455-4T= (n.3455-4T=) c.3131-4T= (n.3131-4T=) c.1028-4T= (n.1028-4T=) c.3470-4T= (n.3470-4T=) c.1790-4T= (n.1790-4T=) | |
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) | |
X | g.108666508A>G | CA413847654 | COL4A5 | c.3467A>G (p.His1156Arg) c.3143A>G (p.His1048Arg) c.1040A>G (p.His347Arg) c.3482A>G (p.His1161Arg) c.1802A>G (p.His601Arg) | |
X | g.108666508A>T | CA413847656 | COL4A5 | c.3467A>T (p.His1156Leu) c.3143A>T (p.His1048Leu) c.1040A>T (p.His347Leu) c.3482A>T (p.His1161Leu) c.1802A>T (p.His601Leu) | |
X | g.108666509T>A | CA413847658 | COL4A5 | c.3468T>A (p.His1156Gln) c.3144T>A (p.His1048Gln) c.1041T>A (p.His347Gln) c.3483T>A (p.His1161Gln) c.1803T>A (p.His601Gln) | |
X | g.108666509T>C | CA10489121 | COL4A5 | c.3468T>C (p.His1156=) c.3144T>C (p.His1048=) c.1041T>C (p.His347=) c.3483T>C (p.His1161=) c.1803T>C (p.His601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666509T>G | CA413847661 | COL4A5 | c.3468T>G (p.His1156Gln) c.3144T>G (p.His1048Gln) c.1041T>G (p.His347Gln) c.3483T>G (p.His1161Gln) c.1803T>G (p.His601Gln) | |
X | g.108666509T= | CA2450712314 | COL4A5 | c.3468T= (p.His1156=) c.3144T= (p.His1048=) c.1041T= (p.His347=) c.3483T= (p.His1161=) c.1803T= (p.His601=) | |
X | g.108666510C>A | CA413847668 | COL4A5 | c.3469C>A (p.Pro1157Thr) c.3145C>A (p.Pro1049Thr) c.1042C>A (p.Pro348Thr) c.3484C>A (p.Pro1162Thr) c.1804C>A (p.Pro602Thr) | gnomAD v4 |
X | g.108666510C= | CA2450712315 | COL4A5 | c.3469C= (p.Pro1157=) c.3145C= (p.Pro1049=) c.1042C= (p.Pro348=) c.3484C= (p.Pro1162=) c.1804C= (p.Pro602=) | |
X | g.108666510C>G | CA413847664 | COL4A5 | c.3469C>G (p.Pro1157Ala) c.3145C>G (p.Pro1049Ala) c.1042C>G (p.Pro348Ala) c.3484C>G (p.Pro1162Ala) c.1804C>G (p.Pro602Ala) | |
X | g.108666510C>T | CA334045624 | COL4A5 | c.3469C>T (p.Pro1157Ser) c.3145C>T (p.Pro1049Ser) c.1042C>T (p.Pro348Ser) c.3484C>T (p.Pro1162Ser) c.1804C>T (p.Pro602Ser) | dbSNP gnomAD v2 |
X | g.108666511C>A | CA413847670 | COL4A5 | c.3470C>A (p.Pro1157His) c.3146C>A (p.Pro1049His) c.1043C>A (p.Pro348His) c.3485C>A (p.Pro1162His) c.1805C>A (p.Pro602His) | gnomAD v4 COSMIC COSMIC |
X | g.108666511C>G | CA413847672 | COL4A5 | c.3470C>G (p.Pro1157Arg) c.3146C>G (p.Pro1049Arg) c.1043C>G (p.Pro348Arg) c.3485C>G (p.Pro1162Arg) c.1805C>G (p.Pro602Arg) | |
X | g.108666511C>T | CA413847674 | COL4A5 | c.3470C>T (p.Pro1157Leu) c.3146C>T (p.Pro1049Leu) c.1043C>T (p.Pro348Leu) c.3485C>T (p.Pro1162Leu) c.1805C>T (p.Pro602Leu) | |
X | g.108666512T>A | CA517922321 | COL4A5 | c.3471T>A (p.Pro1157=) c.3147T>A (p.Pro1049=) c.1044T>A (p.Pro348=) c.3486T>A (p.Pro1162=) c.1806T>A (p.Pro602=) | |
X | g.108666512T>C | CA517922322 | COL4A5 | c.3471T>C (p.Pro1157=) c.3147T>C (p.Pro1049=) c.1044T>C (p.Pro348=) c.3486T>C (p.Pro1162=) c.1806T>C (p.Pro602=) | |
X | g.108666512T>G | CA517922323 | COL4A5 | c.3471T>G (p.Pro1157=) c.3147T>G (p.Pro1049=) c.1044T>G (p.Pro348=) c.3486T>G (p.Pro1162=) c.1806T>G (p.Pro602=) | |
X | g.108666512_108666513delinsTG | CA2450712316 | COL4A5 | c.3471_3472delinsTG (p.Pro1157=) c.3147_3148delinsTG (p.Pro1049=) c.1044_1045delinsTG (p.Pro348=) c.3486_3487delinsTG (p.Pro1162=) c.1806_1807delinsTG (p.Pro602=) | |
X | g.108666513G>A | CA413847677 | COL4A5 | c.3472G>A (p.Gly1158Arg) c.3148G>A (p.Gly1050Arg) c.1045G>A (p.Gly349Arg) c.3487G>A (p.Gly1163Arg) c.1807G>A (p.Gly603Arg) | |
X | g.108666513G>C | CA413847679 | COL4A5 | c.3472G>C (p.Gly1158Arg) c.3148G>C (p.Gly1050Arg) c.1045G>C (p.Gly349Arg) c.3487G>C (p.Gly1163Arg) c.1807G>C (p.Gly603Arg) | |
X | g.108666513G= | CA2450712317 | COL4A5 | c.3472G= (p.Gly1158=) c.3148G= (p.Gly1050=) c.1045G= (p.Gly349=) c.3487G= (p.Gly1163=) c.1807G= (p.Gly603=) | |
X | g.108666513G>T | CA258869 | COL4A5 | c.3472G>T (p.Gly1158Trp) c.3148G>T (p.Gly1050Trp) c.1045G>T (p.Gly349Trp) c.3487G>T (p.Gly1163Trp) c.1807G>T (p.Gly603Trp) | dbSNP gnomAD v4 |
X | g.108666515del | CA258873 | COL4A5 | c.3474del (p.Gln1159AsnfsTer?) c.3150del (p.Gln1051AsnfsTer?) c.1047del (p.Gln350AsnfsTer?) c.3489del (p.Gln1164AsnfsTer?) c.1809del (p.Gln604AsnfsTer?) | dbSNP |
X | g.108666514G>A | CA413847683 | COL4A5 | c.3473G>A (p.Gly1158Glu) c.3149G>A (p.Gly1050Glu) c.1046G>A (p.Gly349Glu) c.3488G>A (p.Gly1163Glu) c.1808G>A (p.Gly603Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108666514G>C | CA413847685 | COL4A5 | c.3473G>C (p.Gly1158Ala) c.3149G>C (p.Gly1050Ala) c.1046G>C (p.Gly349Ala) c.3488G>C (p.Gly1163Ala) c.1808G>C (p.Gly603Ala) | |
X | g.108666514G= | CA2450712318 | COL4A5 | c.3473G= (p.Gly1158=) c.3149G= (p.Gly1050=) c.1046G= (p.Gly349=) c.3488G= (p.Gly1163=) c.1808G= (p.Gly603=) | |
X | g.108666514G>T | CA413847687 | COL4A5 | c.3473G>T (p.Gly1158Val) c.3149G>T (p.Gly1050Val) c.1046G>T (p.Gly349Val) c.3488G>T (p.Gly1163Val) c.1808G>T (p.Gly603Val) | gnomAD v4 |
X | g.108666514_108666515insT | CA517922324 | COL4A5 | c.3473_3474insT (p.Gln1159AlafsTer25) c.3149_3150insT (p.Gln1051AlafsTer25) c.1046_1047insT (p.Gln350AlafsTer25) c.3488_3489insT (p.Gln1164AlafsTer25) c.1808_1809insT (p.Gln604AlafsTer25) | |
X | g.108666515G>A | CA517922325 | COL4A5 | c.3474G>A (p.Gly1158=) c.3150G>A (p.Gly1050=) c.1047G>A (p.Gly349=) c.3489G>A (p.Gly1163=) c.1809G>A (p.Gly603=) | gnomAD v4 COSMIC COSMIC |
X | g.108666515G>C | CA517922326 | COL4A5 | c.3474G>C (p.Gly1158=) c.3150G>C (p.Gly1050=) c.1047G>C (p.Gly349=) c.3489G>C (p.Gly1163=) c.1809G>C (p.Gly603=) | |
X | g.108666515G>T | CA517922327 | COL4A5 | c.3474G>T (p.Gly1158=) c.3150G>T (p.Gly1050=) c.1047G>T (p.Gly349=) c.3489G>T (p.Gly1163=) c.1809G>T (p.Gly603=) | |
X | g.108666516C>A | CA413847694 | COL4A5 | c.3475C>A (p.Gln1159Lys) c.3151C>A (p.Gln1051Lys) c.1048C>A (p.Gln350Lys) c.3490C>A (p.Gln1164Lys) c.1810C>A (p.Gln604Lys) | |
X | g.108666516C= | CA2450712319 | COL4A5 | c.3475C= (p.Gln1159=) c.3151C= (p.Gln1051=) c.1048C= (p.Gln350=) c.3490C= (p.Gln1164=) c.1810C= (p.Gln604=) | |
X | g.108666516C>G | CA413847692 | COL4A5 | c.3475C>G (p.Gln1159Glu) c.3151C>G (p.Gln1051Glu) c.1048C>G (p.Gln350Glu) c.3490C>G (p.Gln1164Glu) c.1810C>G (p.Gln604Glu) | |
X | g.108666516C>T | CA413847690 | COL4A5 | c.3475C>T (p.Gln1159Ter) c.3151C>T (p.Gln1051Ter) c.1048C>T (p.Gln350Ter) c.3490C>T (p.Gln1164Ter) c.1810C>T (p.Gln604Ter) | ClinVar dbSNP |
X | g.108666517A= | CA2450712320 | COL4A5 | c.3476A= (p.Gln1159=) c.3152A= (p.Gln1051=) c.1049A= (p.Gln350=) c.3491A= (p.Gln1164=) c.1811A= (p.Gln604=) | |
X | g.108666517A>C | CA413847696 | COL4A5 | c.3476A>C (p.Gln1159Pro) c.3152A>C (p.Gln1051Pro) c.1049A>C (p.Gln350Pro) c.3491A>C (p.Gln1164Pro) c.1811A>C (p.Gln604Pro) | |
X | g.108666517A>G | CA413847698 | COL4A5 | c.3476A>G (p.Gln1159Arg) c.3152A>G (p.Gln1051Arg) c.1049A>G (p.Gln350Arg) c.3491A>G (p.Gln1164Arg) c.1811A>G (p.Gln604Arg) | dbSNP gnomAD v4 |
X | g.108666517A>T | CA413847699 | COL4A5 | c.3476A>T (p.Gln1159Leu) c.3152A>T (p.Gln1051Leu) c.1049A>T (p.Gln350Leu) c.3491A>T (p.Gln1164Leu) c.1811A>T (p.Gln604Leu) | |
X | g.108666517_108666518del | CA517922328 | COL4A5 | c.3476_3477del (p.Gln1159ProfsTer24) c.3152_3153del (p.Gln1051ProfsTer24) c.1049_1050del (p.Gln350ProfsTer24) c.3491_3492del (p.Gln1164ProfsTer24) c.1811_1812del (p.Gln604ProfsTer24) | |
X | g.108666518A>C | CA413847701 | COL4A5 | c.3477A>C (p.Gln1159His) c.3153A>C (p.Gln1051His) c.1050A>C (p.Gln350His) c.3492A>C (p.Gln1164His) c.1812A>C (p.Gln604His) | |
X | g.108666518A>G | CA517922329 | COL4A5 | c.3477A>G (p.Gln1159=) c.3153A>G (p.Gln1051=) c.1050A>G (p.Gln350=) c.3492A>G (p.Gln1164=) c.1812A>G (p.Gln604=) | |
X | g.108666518A>T | CA413847703 | COL4A5 | c.3477A>T (p.Gln1159His) c.3153A>T (p.Gln1051His) c.1050A>T (p.Gln350His) c.3492A>T (p.Gln1164His) c.1812A>T (p.Gln604His) | |
X | g.108666519C>A | CA413847705 | COL4A5 | c.3478C>A (p.Pro1160Thr) c.3154C>A (p.Pro1052Thr) c.1051C>A (p.Pro351Thr) c.3493C>A (p.Pro1165Thr) c.1813C>A (p.Pro605Thr) | |
X | g.108666519C= | CA2450712321 | COL4A5 | c.3478C= (p.Pro1160=) c.3154C= (p.Pro1052=) c.1051C= (p.Pro351=) c.3493C= (p.Pro1165=) c.1813C= (p.Pro605=) | |
X | g.108666519C>G | CA413847707 | COL4A5 | c.3478C>G (p.Pro1160Ala) c.3154C>G (p.Pro1052Ala) c.1051C>G (p.Pro351Ala) c.3493C>G (p.Pro1165Ala) c.1813C>G (p.Pro605Ala) | |
X | g.108666519C>T | CA413847709 | COL4A5 | c.3478C>T (p.Pro1160Ser) c.3154C>T (p.Pro1052Ser) c.1051C>T (p.Pro351Ser) c.3493C>T (p.Pro1165Ser) c.1813C>T (p.Pro605Ser) | dbSNP |
X | g.108666519_108666520insG | CA517922330 | COL4A5 | c.3478_3479insG (p.Pro1160ArgfsTer24) c.3154_3155insG (p.Pro1052ArgfsTer24) c.1051_1052insG (p.Pro351ArgfsTer24) c.3493_3494insG (p.Pro1165ArgfsTer24) c.1813_1814insG (p.Pro605ArgfsTer24) | |
X | g.108666520C>A | CA413847712 | COL4A5 | c.3479C>A (p.Pro1160Gln) c.3155C>A (p.Pro1052Gln) c.1052C>A (p.Pro351Gln) c.3494C>A (p.Pro1165Gln) c.1814C>A (p.Pro605Gln) | |
X | g.108666520C= | CA2450712322 | COL4A5 | c.3479C= (p.Pro1160=) c.3155C= (p.Pro1052=) c.1052C= (p.Pro351=) c.3494C= (p.Pro1165=) c.1814C= (p.Pro605=) | |
X | g.108666520C>G | CA413847714 | COL4A5 | c.3479C>G (p.Pro1160Arg) c.3155C>G (p.Pro1052Arg) c.1052C>G (p.Pro351Arg) c.3494C>G (p.Pro1165Arg) c.1814C>G (p.Pro605Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666520C>T | CA413847715 | COL4A5 | c.3479C>T (p.Pro1160Leu) c.3155C>T (p.Pro1052Leu) c.1052C>T (p.Pro351Leu) c.3494C>T (p.Pro1165Leu) c.1814C>T (p.Pro605Leu) | |
X | g.108666521A>C | CA517922331 | COL4A5 | c.3480A>C (p.Pro1160=) c.3156A>C (p.Pro1052=) c.1053A>C (p.Pro351=) c.3495A>C (p.Pro1165=) c.1815A>C (p.Pro605=) | |
X | g.108666521A>G | CA517922332 | COL4A5 | c.3480A>G (p.Pro1160=) c.3156A>G (p.Pro1052=) c.1053A>G (p.Pro351=) c.3495A>G (p.Pro1165=) c.1815A>G (p.Pro605=) | |
X | g.108666521A>T | CA517922333 | COL4A5 | c.3480A>T (p.Pro1160=) c.3156A>T (p.Pro1052=) c.1053A>T (p.Pro351=) c.3495A>T (p.Pro1165=) c.1815A>T (p.Pro605=) | |
X | g.108666522G>A | CA258874 | COL4A5 | c.3481G>A (p.Gly1161Arg) c.3157G>A (p.Gly1053Arg) c.1054G>A (p.Gly352Arg) c.3496G>A (p.Gly1166Arg) c.1816G>A (p.Gly606Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108666522G>C | CA413847717 | COL4A5 | c.3481G>C (p.Gly1161Arg) c.3157G>C (p.Gly1053Arg) c.1054G>C (p.Gly352Arg) c.3496G>C (p.Gly1166Arg) c.1816G>C (p.Gly606Arg) | ClinVar dbSNP |
X | g.108666522G= | CA2450712323 | COL4A5 | c.3481G= (p.Gly1161=) c.3157G= (p.Gly1053=) c.1054G= (p.Gly352=) c.3496G= (p.Gly1166=) c.1816G= (p.Gly606=) | |
X | g.108666522G>T | CA413847716 | COL4A5 | c.3481G>T (p.Gly1161Trp) c.3157G>T (p.Gly1053Trp) c.1054G>T (p.Gly352Trp) c.3496G>T (p.Gly1166Trp) c.1816G>T (p.Gly606Trp) | gnomAD v4 |
X | g.108666523G>A | CA413847718 | COL4A5 | c.3482G>A (p.Gly1161Glu) c.3158G>A (p.Gly1053Glu) c.1055G>A (p.Gly352Glu) c.3497G>A (p.Gly1166Glu) c.1817G>A (p.Gly606Glu) | ClinVar dbSNP |
X | g.108666523G>C | CA413847719 | COL4A5 | c.3482G>C (p.Gly1161Ala) c.3158G>C (p.Gly1053Ala) c.1055G>C (p.Gly352Ala) c.3497G>C (p.Gly1166Ala) c.1817G>C (p.Gly606Ala) | |
X | g.108666523G= | CA2450712324 | COL4A5 | c.3482G= (p.Gly1161=) c.3158G= (p.Gly1053=) c.1055G= (p.Gly352=) c.3497G= (p.Gly1166=) c.1817G= (p.Gly606=) | |
X | g.108666523G>T | CA413847720 | COL4A5 | c.3482G>T (p.Gly1161Val) c.3158G>T (p.Gly1053Val) c.1055G>T (p.Gly352Val) c.3497G>T (p.Gly1166Val) c.1817G>T (p.Gly606Val) | gnomAD v4 |
X | g.108666524G>A | CA517922334 | COL4A5 | c.3483G>A (p.Gly1161=) c.3159G>A (p.Gly1053=) c.1056G>A (p.Gly352=) c.3498G>A (p.Gly1166=) c.1818G>A (p.Gly606=) | gnomAD v4 |
X | g.108666524G>C | CA517922335 | COL4A5 | c.3483G>C (p.Gly1161=) c.3159G>C (p.Gly1053=) c.1056G>C (p.Gly352=) c.3498G>C (p.Gly1166=) c.1818G>C (p.Gly606=) | |
X | g.108666524G>T | CA517922336 | COL4A5 | c.3483G>T (p.Gly1161=) c.3159G>T (p.Gly1053=) c.1056G>T (p.Gly352=) c.3498G>T (p.Gly1166=) c.1818G>T (p.Gly606=) | |
X | g.108666524_108666525insTT | CA517922337 | COL4A5 | c.3483_3484insTT (p.Pro1162PhefsTer?) c.3159_3160insTT (p.Pro1054PhefsTer?) c.1056_1057insTT (p.Pro353PhefsTer?) c.3498_3499insTT (p.Pro1167PhefsTer?) c.1818_1819insTT (p.Pro607PhefsTer?) | |
X | g.108666525C>A | CA413847721 | COL4A5 | c.3484C>A (p.Pro1162Thr) c.3160C>A (p.Pro1054Thr) c.1057C>A (p.Pro353Thr) c.3499C>A (p.Pro1167Thr) c.1819C>A (p.Pro607Thr) | gnomAD v4 |
X | g.108666525C>G | CA413847722 | COL4A5 | c.3484C>G (p.Pro1162Ala) c.3160C>G (p.Pro1054Ala) c.1057C>G (p.Pro353Ala) c.3499C>G (p.Pro1167Ala) c.1819C>G (p.Pro607Ala) | |
X | g.108666525C>T | CA413847723 | COL4A5 | c.3484C>T (p.Pro1162Ser) c.3160C>T (p.Pro1054Ser) c.1057C>T (p.Pro353Ser) c.3499C>T (p.Pro1167Ser) c.1819C>T (p.Pro607Ser) | |
X | g.108666525_108666526insTG | CA517922338 | COL4A5 | c.3484_3485insTG (p.Pro1162LeufsTer?) c.3160_3161insTG (p.Pro1054LeufsTer?) c.1057_1058insTG (p.Pro353LeufsTer?) c.3499_3500insTG (p.Pro1167LeufsTer?) c.1819_1820insTG (p.Pro607LeufsTer?) | |
X | g.108666526C>A | CA413847724 | COL4A5 | c.3485C>A (p.Pro1162His) c.3161C>A (p.Pro1054His) c.1058C>A (p.Pro353His) c.3500C>A (p.Pro1167His) c.1820C>A (p.Pro607His) | gnomAD v4 |
X | g.108666526C>G | CA413847725 | COL4A5 | c.3485C>G (p.Pro1162Arg) c.3161C>G (p.Pro1054Arg) c.1058C>G (p.Pro353Arg) c.3500C>G (p.Pro1167Arg) c.1820C>G (p.Pro607Arg) | |
X | g.108666526C>T | CA413847726 | COL4A5 | c.3485C>T (p.Pro1162Leu) c.3161C>T (p.Pro1054Leu) c.1058C>T (p.Pro353Leu) c.3500C>T (p.Pro1167Leu) c.1820C>T (p.Pro607Leu) | |
X | g.108666527T>A | CA517922339 | COL4A5 | c.3486T>A (p.Pro1162=) c.3162T>A (p.Pro1054=) c.1059T>A (p.Pro353=) c.3501T>A (p.Pro1167=) c.1821T>A (p.Pro607=) | |
X | g.108666527T>C | CA517922340 | COL4A5 | c.3486T>C (p.Pro1162=) c.3162T>C (p.Pro1054=) c.1059T>C (p.Pro353=) c.3501T>C (p.Pro1167=) c.1821T>C (p.Pro607=) | gnomAD v4 |
X | g.108666527T>G | CA517922341 | COL4A5 | c.3486T>G (p.Pro1162=) c.3162T>G (p.Pro1054=) c.1059T>G (p.Pro353=) c.3501T>G (p.Pro1167=) c.1821T>G (p.Pro607=) | |
X | g.108666527_108666529delinsTCC | CA2450712325 | COL4A5 | c.3486_3488delinsTCC (p.Pro1162=) c.3162_3164delinsTCC (p.Pro1054=) c.1059_1061delinsTCC (p.Pro353=) c.3501_3503delinsTCC (p.Pro1167=) c.1821_1823delinsTCC (p.Pro607=) | |
X | g.108666528C>A | CA413847727 | COL4A5 | c.3487C>A (p.Pro1163Thr) c.3163C>A (p.Pro1055Thr) c.1060C>A (p.Pro354Thr) c.3502C>A (p.Pro1168Thr) c.1822C>A (p.Pro608Thr) | |
X | g.108666528C>G | CA413847728 | COL4A5 | c.3487C>G (p.Pro1163Ala) c.3163C>G (p.Pro1055Ala) c.1060C>G (p.Pro354Ala) c.3502C>G (p.Pro1168Ala) c.1822C>G (p.Pro608Ala) | |
X | g.108666528C>T | CA413847729 | COL4A5 | c.3487C>T (p.Pro1163Ser) c.3163C>T (p.Pro1055Ser) c.1060C>T (p.Pro354Ser) c.3502C>T (p.Pro1168Ser) c.1822C>T (p.Pro608Ser) | |
X | g.108666528_108666529del | CA2508957337 | COL4A5 | c.3487_3488del (p.Pro1163ArgfsTer20) c.3163_3164del (p.Pro1055ArgfsTer20) c.1060_1061del (p.Pro354ArgfsTer20) c.3502_3503del (p.Pro1168ArgfsTer20) c.1822_1823del (p.Pro608ArgfsTer20) | |
X | g.108666528_108666529delinsG | CA10654931 | COL4A5 | c.3487_3488delinsG (p.Pro1163GlufsTer?) c.3163_3164delinsG (p.Pro1055GlufsTer?) c.1060_1061delinsG (p.Pro354GlufsTer?) c.3502_3503delinsG (p.Pro1168GlufsTer?) c.1822_1823delinsG (p.Pro608GlufsTer?) | ClinVar dbSNP |
X | g.108666529del | CA2580100161 | COL4A5 | c.3488del (p.Pro1163GlnfsTer?) c.3164del (p.Pro1055GlnfsTer?) c.1061del (p.Pro354GlnfsTer?) c.3503del (p.Pro1168GlnfsTer?) c.1823del (p.Pro608GlnfsTer?) | ClinVar |
X | g.108666528_108666529insAA | CA517922342 | COL4A5 | c.3487_3488insAA (p.Pro1163GlnfsTer?) c.3163_3164insAA (p.Pro1055GlnfsTer?) c.1060_1061insAA (p.Pro354GlnfsTer?) c.3502_3503insAA (p.Pro1168GlnfsTer?) c.1822_1823insAA (p.Pro608GlnfsTer?) | |
X | g.108666529C>A | CA413847731 | COL4A5 | c.3488C>A (p.Pro1163Gln) c.3164C>A (p.Pro1055Gln) c.1061C>A (p.Pro354Gln) c.3503C>A (p.Pro1168Gln) c.1823C>A (p.Pro608Gln) | gnomAD v4 |
X | g.108666529C= | CA2450712326 | COL4A5 | c.3488C= (p.Pro1163=) c.3164C= (p.Pro1055=) c.1061C= (p.Pro354=) c.3503C= (p.Pro1168=) c.1823C= (p.Pro608=) | |
X | g.108666529C>G | CA413847730 | COL4A5 | c.3488C>G (p.Pro1163Arg) c.3164C>G (p.Pro1055Arg) c.1061C>G (p.Pro354Arg) c.3503C>G (p.Pro1168Arg) c.1823C>G (p.Pro608Arg) | |
X | g.108666529C>T | CA10489122 | COL4A5 | c.3488C>T (p.Pro1163Leu) c.3164C>T (p.Pro1055Leu) c.1061C>T (p.Pro354Leu) c.3503C>T (p.Pro1168Leu) c.1823C>T (p.Pro608Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666530A>C | CA517922343 | COL4A5 | c.3489A>C (p.Pro1163=) c.3165A>C (p.Pro1055=) c.1062A>C (p.Pro354=) c.3504A>C (p.Pro1168=) c.1824A>C (p.Pro608=) | |
X | g.108666530A>G | CA517922344 | COL4A5 | c.3489A>G (p.Pro1163=) c.3165A>G (p.Pro1055=) c.1062A>G (p.Pro354=) c.3504A>G (p.Pro1168=) c.1824A>G (p.Pro608=) | |
X | g.108666530A>T | CA517922345 | COL4A5 | c.3489A>T (p.Pro1163=) c.3165A>T (p.Pro1055=) c.1062A>T (p.Pro354=) c.3504A>T (p.Pro1168=) c.1824A>T (p.Pro608=) | |
X | g.108666531G>A | CA413847733 | COL4A5 | c.3490G>A (p.Gly1164Ser) c.3166G>A (p.Gly1056Ser) c.1063G>A (p.Gly355Ser) c.3505G>A (p.Gly1169Ser) c.1825G>A (p.Gly609Ser) | gnomAD v4 |
X | g.108666531G>C | CA413847732 | COL4A5 | c.3490G>C (p.Gly1164Arg) c.3166G>C (p.Gly1056Arg) c.1063G>C (p.Gly355Arg) c.3505G>C (p.Gly1169Arg) c.1825G>C (p.Gly609Arg) | |
X | g.108666531G= | CA2450712327 | COL4A5 | c.3490G= (p.Gly1164=) c.3166G= (p.Gly1056=) c.1063G= (p.Gly355=) c.3505G= (p.Gly1169=) c.1825G= (p.Gly609=) | |
X | g.108666531G>T | CA16043193 | COL4A5 | c.3490G>T (p.Gly1164Cys) c.3166G>T (p.Gly1056Cys) c.1063G>T (p.Gly355Cys) c.3505G>T (p.Gly1169Cys) c.1825G>T (p.Gly609Cys) | ClinVar dbSNP |
X | g.108666532_108666534del | CA517922346 | COL4A5 | c.3491_3493del (p.Gly1164del) c.3167_3169del (p.Gly1056del) c.1064_1066del (p.Gly355del) c.3506_3508del (p.Gly1169del) c.1826_1828del (p.Gly609del) | |
X | g.108666532G>A | CA413847734 | COL4A5 | c.3491G>A (p.Gly1164Asp) c.3167G>A (p.Gly1056Asp) c.1064G>A (p.Gly355Asp) c.3506G>A (p.Gly1169Asp) c.1826G>A (p.Gly609Asp) | ClinVar dbSNP |
X | g.108666532G>C | CA413847735 | COL4A5 | c.3491G>C (p.Gly1164Ala) c.3167G>C (p.Gly1056Ala) c.1064G>C (p.Gly355Ala) c.3506G>C (p.Gly1169Ala) c.1826G>C (p.Gly609Ala) | |
X | g.108666532G>T | CA413847736 | COL4A5 | c.3491G>T (p.Gly1164Val) c.3167G>T (p.Gly1056Val) c.1064G>T (p.Gly355Val) c.3506G>T (p.Gly1169Val) c.1826G>T (p.Gly609Val) | |
X | g.108666533C>A | CA517922347 | COL4A5 | c.3492C>A (p.Gly1164=) c.3168C>A (p.Gly1056=) c.1065C>A (p.Gly355=) c.3507C>A (p.Gly1169=) c.1827C>A (p.Gly609=) | ClinVar dbSNP gnomAD v4 |
X | g.108666533C= | CA2450712328 | COL4A5 | c.3492C= (p.Gly1164=) c.3168C= (p.Gly1056=) c.1065C= (p.Gly355=) c.3507C= (p.Gly1169=) c.1827C= (p.Gly609=) | |
X | g.108666533C>G | CA517922348 | COL4A5 | c.3492C>G (p.Gly1164=) c.3168C>G (p.Gly1056=) c.1065C>G (p.Gly355=) c.3507C>G (p.Gly1169=) c.1827C>G (p.Gly609=) | |
X | g.108666533C>T | CA334045709 | COL4A5 | c.3492C>T (p.Gly1164=) c.3168C>T (p.Gly1056=) c.1065C>T (p.Gly355=) c.3507C>T (p.Gly1169=) c.1827C>T (p.Gly609=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108666534G>A | CA10489123 | COL4A5 | c.3493G>A (p.Glu1165Lys) c.3169G>A (p.Glu1057Lys) c.1066G>A (p.Glu356Lys) c.3508G>A (p.Glu1170Lys) c.1828G>A (p.Glu610Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108666534G>C | CA413847737 | COL4A5 | c.3493G>C (p.Glu1165Gln) c.3169G>C (p.Glu1057Gln) c.1066G>C (p.Glu356Gln) c.3508G>C (p.Glu1170Gln) c.1828G>C (p.Glu610Gln) | |
X | g.108666534G= | CA2450712329 | COL4A5 | c.3493G= (p.Glu1165=) c.3169G= (p.Glu1057=) c.1066G= (p.Glu356=) c.3508G= (p.Glu1170=) c.1828G= (p.Glu610=) | |
X | g.108666534G>T | CA413847738 | COL4A5 | c.3493G>T (p.Glu1165Ter) c.3169G>T (p.Glu1057Ter) c.1066G>T (p.Glu356Ter) c.3508G>T (p.Glu1170Ter) c.1828G>T (p.Glu610Ter) | |
X | g.108666535A>C | CA413847739 | COL4A5 | c.3494A>C (p.Glu1165Ala) c.3170A>C (p.Glu1057Ala) c.1067A>C (p.Glu356Ala) c.3509A>C (p.Glu1170Ala) c.1829A>C (p.Glu610Ala) | |
X | g.108666535A>G | CA413847740 | COL4A5 | c.3494A>G (p.Glu1165Gly) c.3170A>G (p.Glu1057Gly) c.1067A>G (p.Glu356Gly) c.3509A>G (p.Glu1170Gly) c.1829A>G (p.Glu610Gly) | gnomAD v4 |
X | g.108666535A>T | CA413847741 | COL4A5 | c.3494A>T (p.Glu1165Val) c.3170A>T (p.Glu1057Val) c.1067A>T (p.Glu356Val) c.3509A>T (p.Glu1170Val) c.1829A>T (p.Glu610Val) | |
X | g.108666539del | CA643636642 | COL4A5 | c.3498del (p.Gly1167AlafsTer?) c.3174del (p.Gly1059AlafsTer?) c.1071del (p.Gly358AlafsTer?) c.3513del (p.Gly1172AlafsTer?) c.1833del (p.Gly612AlafsTer?) | gnomAD v2 gnomAD v4 |
X | g.108666536A>C | CA413847742 | COL4A5 | c.3495A>C (p.Glu1165Asp) c.3171A>C (p.Glu1057Asp) c.1068A>C (p.Glu356Asp) c.3510A>C (p.Glu1170Asp) c.1830A>C (p.Glu610Asp) | |
X | g.108666536A>G | CA517922349 | COL4A5 | c.3495A>G (p.Glu1165=) c.3171A>G (p.Glu1057=) c.1068A>G (p.Glu356=) c.3510A>G (p.Glu1170=) c.1830A>G (p.Glu610=) | |
X | g.108666536A>T | CA413847743 | COL4A5 | c.3495A>T (p.Glu1165Asp) c.3171A>T (p.Glu1057Asp) c.1068A>T (p.Glu356Asp) c.3510A>T (p.Glu1170Asp) c.1830A>T (p.Glu610Asp) | COSMIC COSMIC |
X | g.108666537A= | CA2450712330 | COL4A5 | c.3496A= (p.Lys1166=) c.3172A= (p.Lys1058=) c.1069A= (p.Lys357=) c.3511A= (p.Lys1171=) c.1831A= (p.Lys611=) | |
X | g.108666537A>C | CA413847745 | COL4A5 | c.3496A>C (p.Lys1166Gln) c.3172A>C (p.Lys1058Gln) c.1069A>C (p.Lys357Gln) c.3511A>C (p.Lys1171Gln) c.1831A>C (p.Lys611Gln) | |
X | g.108666537A>G | CA16621173 | COL4A5 | c.3496A>G (p.Lys1166Glu) c.3172A>G (p.Lys1058Glu) c.1069A>G (p.Lys357Glu) c.3511A>G (p.Lys1171Glu) c.1831A>G (p.Lys611Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108666537A>T | CA413847744 | COL4A5 | c.3496A>T (p.Lys1166Ter) c.3172A>T (p.Lys1058Ter) c.1069A>T (p.Lys357Ter) c.3511A>T (p.Lys1171Ter) c.1831A>T (p.Lys611Ter) | |
X | g.108666540_108666545del | CA2580100167 | COL4A5 | c.3499_3504del (p.Gly1167_Lys1168del) c.3175_3180del (p.Gly1059_Lys1060del) c.1072_1077del (p.Gly358_Lys359del) c.3514_3519del (p.Gly1172_Lys1173del) c.1834_1839del (p.Gly612_Lys613del) | ClinVar |
X | g.108666538A>C | CA413847746 | COL4A5 | c.3497A>C (p.Lys1166Thr) c.3173A>C (p.Lys1058Thr) c.1070A>C (p.Lys357Thr) c.3512A>C (p.Lys1171Thr) c.1832A>C (p.Lys611Thr) | |
X | g.108666538A>G | CA413847747 | COL4A5 | c.3497A>G (p.Lys1166Arg) c.3173A>G (p.Lys1058Arg) c.1070A>G (p.Lys357Arg) c.3512A>G (p.Lys1171Arg) c.1832A>G (p.Lys611Arg) | gnomAD v4 |
X | g.108666538A>T | CA413847748 | COL4A5 | c.3497A>T (p.Lys1166Ile) c.3173A>T (p.Lys1058Ile) c.1070A>T (p.Lys357Ile) c.3512A>T (p.Lys1171Ile) c.1832A>T (p.Lys611Ile) | |
X | g.108666538_108666539insTATCT | CA517922354 | COL4A5 | c.3497_3498insTATCT (p.Lys1166AsnfsTer3) c.3173_3174insTATCT (p.Lys1058AsnfsTer3) c.1070_1071insTATCT (p.Lys357AsnfsTer3) c.3512_3513insTATCT (p.Lys1171AsnfsTer3) c.1832_1833insTATCT (p.Lys611AsnfsTer3) | |
X | g.108666539A= | CA2450712331 | COL4A5 | c.3498A= (p.Lys1166=) c.3174A= (p.Lys1058=) c.1071A= (p.Lys357=) c.3513A= (p.Lys1171=) c.1833A= (p.Lys611=) | |
X | g.108666539A>C | CA413847749 | COL4A5 | c.3498A>C (p.Lys1166Asn) c.3174A>C (p.Lys1058Asn) c.1071A>C (p.Lys357Asn) c.3513A>C (p.Lys1171Asn) c.1833A>C (p.Lys611Asn) | gnomAD v4 |
X | g.108666539A>G | CA517922353 | COL4A5 | c.3498A>G (p.Lys1166=) c.3174A>G (p.Lys1058=) c.1071A>G (p.Lys357=) c.3513A>G (p.Lys1171=) c.1833A>G (p.Lys611=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108666539A>T | CA413847750 | COL4A5 | c.3498A>T (p.Lys1166Asn) c.3174A>T (p.Lys1058Asn) c.1071A>T (p.Lys357Asn) c.3513A>T (p.Lys1171Asn) c.1833A>T (p.Lys611Asn) | gnomAD v4 |
X | g.108666540G>A | CA258876 | COL4A5 | c.3499G>A (p.Gly1167Ser) c.3175G>A (p.Gly1059Ser) c.1072G>A (p.Gly358Ser) c.3514G>A (p.Gly1172Ser) c.1834G>A (p.Gly612Ser) | ClinVar dbSNP |
X | g.108666540G>C | CA413847751 | COL4A5 | c.3499G>C (p.Gly1167Arg) c.3175G>C (p.Gly1059Arg) c.1072G>C (p.Gly358Arg) c.3514G>C (p.Gly1172Arg) c.1834G>C (p.Gly612Arg) | gnomAD v4 |
X | g.108666540G= | CA2450712332 | COL4A5 | c.3499G= (p.Gly1167=) c.3175G= (p.Gly1059=) c.1072G= (p.Gly358=) c.3514G= (p.Gly1172=) c.1834G= (p.Gly612=) | |
X | g.108666540G>T | CA413847752 | COL4A5 | c.3499G>T (p.Gly1167Cys) c.3175G>T (p.Gly1059Cys) c.1072G>T (p.Gly358Cys) c.3514G>T (p.Gly1172Cys) c.1834G>T (p.Gly612Cys) | |
X | g.108666541G>A | CA413847753 | COL4A5 | c.3500G>A (p.Gly1167Asp) c.3176G>A (p.Gly1059Asp) c.1073G>A (p.Gly358Asp) c.3515G>A (p.Gly1172Asp) c.1835G>A (p.Gly612Asp) | ClinVar |
X | g.108666541G>C | CA413847754 | COL4A5 | c.3500G>C (p.Gly1167Ala) c.3176G>C (p.Gly1059Ala) c.1073G>C (p.Gly358Ala) c.3515G>C (p.Gly1172Ala) c.1835G>C (p.Gly612Ala) | |
X | g.108666541G>T | CA413847755 | COL4A5 | c.3500G>T (p.Gly1167Val) c.3176G>T (p.Gly1059Val) c.1073G>T (p.Gly358Val) c.3515G>T (p.Gly1172Val) c.1835G>T (p.Gly612Val) | |
X | g.108666542C>A | CA517922358 | COL4A5 | c.3501C>A (p.Gly1167=) c.3177C>A (p.Gly1059=) c.1074C>A (p.Gly358=) c.3516C>A (p.Gly1172=) c.1836C>A (p.Gly612=) | |
X | g.108666542C>G | CA517922359 | COL4A5 | c.3501C>G (p.Gly1167=) c.3177C>G (p.Gly1059=) c.1074C>G (p.Gly358=) c.3516C>G (p.Gly1172=) c.1836C>G (p.Gly612=) | |
X | g.108666542C>T | CA517922360 | COL4A5 | c.3501C>T (p.Gly1167=) c.3177C>T (p.Gly1059=) c.1074C>T (p.Gly358=) c.3516C>T (p.Gly1172=) c.1836C>T (p.Gly612=) | gnomAD v4 |
X | g.108666543A>C | CA413847756 | COL4A5 | c.3502A>C (p.Lys1168Gln) c.3178A>C (p.Lys1060Gln) c.1075A>C (p.Lys359Gln) c.3517A>C (p.Lys1173Gln) c.1837A>C (p.Lys613Gln) | gnomAD v4 |
X | g.108666543A>G | CA413847757 | COL4A5 | c.3502A>G (p.Lys1168Glu) c.3178A>G (p.Lys1060Glu) c.1075A>G (p.Lys359Glu) c.3517A>G (p.Lys1173Glu) c.1837A>G (p.Lys613Glu) | |
X | g.108666543A>T | CA413847758 | COL4A5 | c.3502A>T (p.Lys1168Ter) c.3178A>T (p.Lys1060Ter) c.1075A>T (p.Lys359Ter) c.3517A>T (p.Lys1173Ter) c.1837A>T (p.Lys613Ter) | |
X | g.108666544A= | CA2450712333 | COL4A5 | c.3503A= (p.Lys1168=) c.3179A= (p.Lys1060=) c.1076A= (p.Lys359=) c.3518A= (p.Lys1173=) c.1838A= (p.Lys613=) | |
X | g.108666544A>C | CA413847760 | COL4A5 | c.3503A>C (p.Lys1168Thr) c.3179A>C (p.Lys1060Thr) c.1076A>C (p.Lys359Thr) c.3518A>C (p.Lys1173Thr) c.1838A>C (p.Lys613Thr) | |
X | g.108666544A>G | CA413847761 | COL4A5 | c.3503A>G (p.Lys1168Arg) c.3179A>G (p.Lys1060Arg) c.1076A>G (p.Lys359Arg) c.3518A>G (p.Lys1173Arg) c.1838A>G (p.Lys613Arg) | |
X | g.108666544A>T | CA413847759 | COL4A5 | c.3503A>T (p.Lys1168Ile) c.3179A>T (p.Lys1060Ile) c.1076A>T (p.Lys359Ile) c.3518A>T (p.Lys1173Ile) c.1838A>T (p.Lys613Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108666545A>C | CA413847762 | COL4A5 | c.3504A>C (p.Lys1168Asn) c.3180A>C (p.Lys1060Asn) c.1077A>C (p.Lys359Asn) c.3519A>C (p.Lys1173Asn) c.1839A>C (p.Lys613Asn) | |
X | g.108666545A>G | CA517922362 | COL4A5 | c.3504A>G (p.Lys1168=) c.3180A>G (p.Lys1060=) c.1077A>G (p.Lys359=) c.3519A>G (p.Lys1173=) c.1839A>G (p.Lys613=) | |
X | g.108666545A>T | CA413847763 | COL4A5 | c.3504A>T (p.Lys1168Asn) c.3180A>T (p.Lys1060Asn) c.1077A>T (p.Lys359Asn) c.3519A>T (p.Lys1173Asn) c.1839A>T (p.Lys613Asn) | |
X | g.108666546_108666553del | CA517922363 | COL4A5 | c.3505_3512del (p.Pro1169ArgfsTer12) c.3181_3188del (p.Pro1061ArgfsTer12) c.1078_1085del (p.Pro360ArgfsTer12) c.3520_3527del (p.Pro1174ArgfsTer12) c.1840_1847del (p.Pro614ArgfsTer12) | |
X | g.108666546C>A | CA413847764 | COL4A5 | c.3505C>A (p.Pro1169Thr) c.3181C>A (p.Pro1061Thr) c.1078C>A (p.Pro360Thr) c.3520C>A (p.Pro1174Thr) c.1840C>A (p.Pro614Thr) | gnomAD v4 |
X | g.108666546C>G | CA413847765 | COL4A5 | c.3505C>G (p.Pro1169Ala) c.3181C>G (p.Pro1061Ala) c.1078C>G (p.Pro360Ala) c.3520C>G (p.Pro1174Ala) c.1840C>G (p.Pro614Ala) | |
X | g.108666546C>T | CA413847766 | COL4A5 | c.3505C>T (p.Pro1169Ser) c.3181C>T (p.Pro1061Ser) c.1078C>T (p.Pro360Ser) c.3520C>T (p.Pro1174Ser) c.1840C>T (p.Pro614Ser) | gnomAD v4 |
X | g.108666547C>A | CA413847767 | COL4A5 | c.3506C>A (p.Pro1169His) c.3182C>A (p.Pro1061His) c.1079C>A (p.Pro360His) c.3521C>A (p.Pro1174His) c.1841C>A (p.Pro614His) | gnomAD v4 |
X | g.108666547C>G | CA413847768 | COL4A5 | c.3506C>G (p.Pro1169Arg) c.3182C>G (p.Pro1061Arg) c.1079C>G (p.Pro360Arg) c.3521C>G (p.Pro1174Arg) c.1841C>G (p.Pro614Arg) | |
X | g.108666547C>T | CA413847769 | COL4A5 | c.3506C>T (p.Pro1169Leu) c.3182C>T (p.Pro1061Leu) c.1079C>T (p.Pro360Leu) c.3521C>T (p.Pro1174Leu) c.1841C>T (p.Pro614Leu) |