Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108622633G>A | CA2694440241 | COL4A5 | c.2768-43G>A (n.2768-43G>A) n.2224-43G>A c.2444-43G>A (n.2444-43G>A) c.341-43G>A (n.341-43G>A) c.2783-43G>A (n.2783-43G>A) c.1103-43G>A (n.1103-43G>A) | gnomAD v4 |
X | g.108622633G>T | CA2694440242 | COL4A5 | c.2768-43G>T (n.2768-43G>T) n.2224-43G>T c.2444-43G>T (n.2444-43G>T) c.341-43G>T (n.341-43G>T) c.2783-43G>T (n.2783-43G>T) c.1103-43G>T (n.1103-43G>T) | gnomAD v4 |
X | g.108622634G= | CA2450696841 | COL4A5 | c.2768-42G= (n.2768-42G=) n.2224-42G= c.2444-42G= (n.2444-42G=) c.341-42G= (n.341-42G=) c.2783-42G= (n.2783-42G=) c.1103-42G= (n.1103-42G=) | |
X | g.108622634G>T | CA643630527 | COL4A5 | c.2768-42G>T (n.2768-42G>T) n.2224-42G>T c.2444-42G>T (n.2444-42G>T) c.341-42G>T (n.341-42G>T) c.2783-42G>T (n.2783-42G>T) c.1103-42G>T (n.1103-42G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622638A= | CA2450696842 | COL4A5 | c.2768-38A= (n.2768-38A=) n.2224-38A= c.2444-38A= (n.2444-38A=) c.341-38A= (n.341-38A=) c.2783-38A= (n.2783-38A=) c.1103-38A= (n.1103-38A=) | |
X | g.108622638A>C | CA2694440243 | COL4A5 | c.2768-38A>C (n.2768-38A>C) n.2224-38A>C c.2444-38A>C (n.2444-38A>C) c.341-38A>C (n.341-38A>C) c.2783-38A>C (n.2783-38A>C) c.1103-38A>C (n.1103-38A>C) | gnomAD v4 |
X | g.108622638A>G | CA1136179547 | COL4A5 | c.2768-38A>G (n.2768-38A>G) n.2224-38A>G c.2444-38A>G (n.2444-38A>G) c.341-38A>G (n.341-38A>G) c.2783-38A>G (n.2783-38A>G) c.1103-38A>G (n.1103-38A>G) | dbSNP |
X | g.108622640A>G | CA2694440244 | COL4A5 | c.2768-36A>G (n.2768-36A>G) n.2224-36A>G c.2444-36A>G (n.2444-36A>G) c.341-36A>G (n.341-36A>G) c.2783-36A>G (n.2783-36A>G) c.1103-36A>G (n.1103-36A>G) | gnomAD v4 |
X | g.108622641T>C | CA2694440245 | COL4A5 | c.2768-35T>C (n.2768-35T>C) n.2224-35T>C c.2444-35T>C (n.2444-35T>C) c.341-35T>C (n.341-35T>C) c.2783-35T>C (n.2783-35T>C) c.1103-35T>C (n.1103-35T>C) | gnomAD v4 |
X | g.108622642T>C | CA869814707 | COL4A5 | c.2768-34T>C (n.2768-34T>C) n.2224-34T>C c.2444-34T>C (n.2444-34T>C) c.341-34T>C (n.341-34T>C) c.2783-34T>C (n.2783-34T>C) c.1103-34T>C (n.1103-34T>C) | dbSNP |
X | g.108622642T= | CA2450696843 | COL4A5 | c.2768-34T= (n.2768-34T=) n.2224-34T= c.2444-34T= (n.2444-34T=) c.341-34T= (n.341-34T=) c.2783-34T= (n.2783-34T=) c.1103-34T= (n.1103-34T=) | |
X | g.108622643G>A | CA2694440246 | COL4A5 | c.2768-33G>A (n.2768-33G>A) n.2224-33G>A c.2444-33G>A (n.2444-33G>A) c.341-33G>A (n.341-33G>A) c.2783-33G>A (n.2783-33G>A) c.1103-33G>A (n.1103-33G>A) | gnomAD v4 |
X | g.108622643G>T | CA2694440247 | COL4A5 | c.2768-33G>T (n.2768-33G>T) n.2224-33G>T c.2444-33G>T (n.2444-33G>T) c.341-33G>T (n.341-33G>T) c.2783-33G>T (n.2783-33G>T) c.1103-33G>T (n.1103-33G>T) | gnomAD v4 |
X | g.108622644A= | CA2450696844 | COL4A5 | c.2768-32A= (n.2768-32A=) n.2224-32A= c.2444-32A= (n.2444-32A=) c.341-32A= (n.341-32A=) c.2783-32A= (n.2783-32A=) c.1103-32A= (n.1103-32A=) | |
X | g.108622644A>G | CA10488982 | COL4A5 | c.2768-32A>G (n.2768-32A>G) n.2224-32A>G c.2444-32A>G (n.2444-32A>G) c.341-32A>G (n.341-32A>G) c.2783-32A>G (n.2783-32A>G) c.1103-32A>G (n.1103-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622647T>C | CA10488983 | COL4A5 | c.2768-29T>C (n.2768-29T>C) n.2224-29T>C c.2444-29T>C (n.2444-29T>C) c.341-29T>C (n.341-29T>C) c.2783-29T>C (n.2783-29T>C) c.1103-29T>C (n.1103-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622647T= | CA2450696845 | COL4A5 | c.2768-29T= (n.2768-29T=) n.2224-29T= c.2444-29T= (n.2444-29T=) c.341-29T= (n.341-29T=) c.2783-29T= (n.2783-29T=) c.1103-29T= (n.1103-29T=) | |
X | g.108622650del | CA2694440248 | COL4A5 | c.2768-26del (n.2768-26del) n.2224-26del c.2444-26del (n.2444-26del) c.341-26del (n.341-26del) c.2783-26del (n.2783-26del) c.1103-26del (n.1103-26del) | gnomAD v4 |
X | g.108622651G>A | CA2694440249 | COL4A5 | c.2768-25G>A (n.2768-25G>A) n.2224-25G>A c.2444-25G>A (n.2444-25G>A) c.341-25G>A (n.341-25G>A) c.2783-25G>A (n.2783-25G>A) c.1103-25G>A (n.1103-25G>A) | gnomAD v4 |
X | g.108622651G= | CA2450696846 | COL4A5 | c.2768-25G= (n.2768-25G=) n.2224-25G= c.2444-25G= (n.2444-25G=) c.341-25G= (n.341-25G=) c.2783-25G= (n.2783-25G=) c.1103-25G= (n.1103-25G=) | |
X | g.108622651G>T | CA10488984 | COL4A5 | c.2768-25G>T (n.2768-25G>T) n.2224-25G>T c.2444-25G>T (n.2444-25G>T) c.341-25G>T (n.341-25G>T) c.2783-25G>T (n.2783-25G>T) c.1103-25G>T (n.1103-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622652T>C | CA10488985 | COL4A5 | c.2768-24T>C (n.2768-24T>C) n.2224-24T>C c.2444-24T>C (n.2444-24T>C) c.341-24T>C (n.341-24T>C) c.2783-24T>C (n.2783-24T>C) c.1103-24T>C (n.1103-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622652T= | CA2450696847 | COL4A5 | c.2768-24T= (n.2768-24T=) n.2224-24T= c.2444-24T= (n.2444-24T=) c.341-24T= (n.341-24T=) c.2783-24T= (n.2783-24T=) c.1103-24T= (n.1103-24T=) | |
X | g.108622653G>T | CA2514839050 | COL4A5 | c.2768-23G>T (n.2768-23G>T) n.2224-23G>T c.2444-23G>T (n.2444-23G>T) c.341-23G>T (n.341-23G>T) c.2783-23G>T (n.2783-23G>T) c.1103-23G>T (n.1103-23G>T) | |
X | g.108622658C>A | CA2694440250 | COL4A5 | c.2768-18C>A (n.2768-18C>A) n.2224-18C>A c.2444-18C>A (n.2444-18C>A) c.341-18C>A (n.341-18C>A) c.2783-18C>A (n.2783-18C>A) c.1103-18C>A (n.1103-18C>A) | gnomAD v4 |
X | g.108622659A>G | CA2694440251 | COL4A5 | c.2768-17A>G (n.2768-17A>G) n.2224-17A>G c.2444-17A>G (n.2444-17A>G) c.341-17A>G (n.341-17A>G) c.2783-17A>G (n.2783-17A>G) c.1103-17A>G (n.1103-17A>G) | gnomAD v4 |
X | g.108622660C>A | CA2694440252 | COL4A5 | c.2768-16C>A (n.2768-16C>A) n.2224-16C>A c.2444-16C>A (n.2444-16C>A) c.341-16C>A (n.341-16C>A) c.2783-16C>A (n.2783-16C>A) c.1103-16C>A (n.1103-16C>A) | gnomAD v4 |
X | g.108622660C>T | CA2697544687 | COL4A5 | c.2768-16C>T (n.2768-16C>T) n.2224-16C>T c.2444-16C>T (n.2444-16C>T) c.341-16C>T (n.341-16C>T) c.2783-16C>T (n.2783-16C>T) c.1103-16C>T (n.1103-16C>T) | ClinVar |
X | g.108622662C>T | CA2738911591 | COL4A5 | c.2768-14C>T (n.2768-14C>T) n.2224-14C>T c.2444-14C>T (n.2444-14C>T) c.341-14C>T (n.341-14C>T) c.2783-14C>T (n.2783-14C>T) c.1103-14C>T (n.1103-14C>T) | dbSNP |
X | g.108622664C= | CA2450696848 | COL4A5 | c.2768-12C= (n.2768-12C=) n.2224-12C= c.2444-12C= (n.2444-12C=) c.341-12C= (n.341-12C=) c.2783-12C= (n.2783-12C=) c.1103-12C= (n.1103-12C=) | |
X | g.108622664C>T | CA643630530 | COL4A5 | c.2768-12C>T (n.2768-12C>T) n.2224-12C>T c.2444-12C>T (n.2444-12C>T) c.341-12C>T (n.341-12C>T) c.2783-12C>T (n.2783-12C>T) c.1103-12C>T (n.1103-12C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108622665A= | CA2450696849 | COL4A5 | c.2768-11A= (n.2768-11A=) n.2224-11A= c.2444-11A= (n.2444-11A=) c.341-11A= (n.341-11A=) c.2783-11A= (n.2783-11A=) c.1103-11A= (n.1103-11A=) | |
X | g.108622665A>G | CA258757 | COL4A5 | c.2768-11A>G (n.2768-11A>G) n.2224-11A>G c.2444-11A>G (n.2444-11A>G) c.341-11A>G (n.341-11A>G) c.2783-11A>G (n.2783-11A>G) c.1103-11A>G (n.1103-11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622666T>C | CA10488986 | COL4A5 | c.2768-10T>C (n.2768-10T>C) n.2224-10T>C c.2444-10T>C (n.2444-10T>C) c.341-10T>C (n.341-10T>C) c.2783-10T>C (n.2783-10T>C) c.1103-10T>C (n.1103-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622666T= | CA2450696850 | COL4A5 | c.2768-10T= (n.2768-10T=) n.2224-10T= c.2444-10T= (n.2444-10T=) c.341-10T= (n.341-10T=) c.2783-10T= (n.2783-10T=) c.1103-10T= (n.1103-10T=) | |
X | g.108622668G>T | CA2694440253 | COL4A5 | c.2768-8G>T (n.2768-8G>T) n.2224-8G>T c.2444-8G>T (n.2444-8G>T) c.341-8G>T (n.341-8G>T) c.2783-8G>T (n.2783-8G>T) c.1103-8G>T (n.1103-8G>T) | gnomAD v4 |
X | g.108622673del | CA2579676575 | COL4A5 | c.2768-3del (n.2768-3del) n.2224-3del c.2444-3del (n.2444-3del) c.341-3del (n.341-3del) c.2783-3del (n.2783-3del) c.1103-3del (n.1103-3del) | |
X | g.108622674A>C | CA413852442 | COL4A5 | c.2768-2A>C (n.2768-2A>C) n.2224-2A>C c.2444-2A>C (n.2444-2A>C) c.341-2A>C (n.341-2A>C) c.2783-2A>C (n.2783-2A>C) c.1103-2A>C (n.1103-2A>C) | |
X | g.108622674A>G | CA413852443 | COL4A5 | c.2768-2A>G (n.2768-2A>G) n.2224-2A>G c.2444-2A>G (n.2444-2A>G) c.341-2A>G (n.341-2A>G) c.2783-2A>G (n.2783-2A>G) c.1103-2A>G (n.1103-2A>G) | |
X | g.108622674A>T | CA413852444 | COL4A5 | c.2768-2A>T (n.2768-2A>T) n.2224-2A>T c.2444-2A>T (n.2444-2A>T) c.341-2A>T (n.341-2A>T) c.2783-2A>T (n.2783-2A>T) c.1103-2A>T (n.1103-2A>T) | |
X | g.108622675G>A | CA413852447 | COL4A5 | c.2768-1G>A (n.2768-1G>A) n.2224-1G>A c.2444-1G>A (n.2444-1G>A) c.341-1G>A (n.341-1G>A) c.2783-1G>A (n.2783-1G>A) c.1103-1G>A (n.1103-1G>A) | |
X | g.108622675G>C | CA413852462 | COL4A5 | c.2768-1G>C (n.2768-1G>C) n.2224-1G>C c.2444-1G>C (n.2444-1G>C) c.341-1G>C (n.341-1G>C) c.2783-1G>C (n.2783-1G>C) c.1103-1G>C (n.1103-1G>C) | |
X | g.108622675G>T | CA413852465 | COL4A5 | c.2768-1G>T (n.2768-1G>T) n.2224-1G>T c.2444-1G>T (n.2444-1G>T) c.341-1G>T (n.341-1G>T) c.2783-1G>T (n.2783-1G>T) c.1103-1G>T (n.1103-1G>T) | |
X | g.108622676G>A | CA413852467 | COL4A5 | c.2768G>A (p.Gly923Asp) n.2224G>A c.1G>A c.2444G>A (p.Gly815Asp) c.341G>A (p.Gly114Asp) c.2783G>A (p.Gly928Asp) c.1103G>A (p.Gly368Asp) | |
X | g.108622676G>C | CA413852471 | COL4A5 | c.2768G>C (p.Gly923Ala) n.2224G>C c.1G>C c.2444G>C (p.Gly815Ala) c.341G>C (p.Gly114Ala) c.2783G>C (p.Gly928Ala) c.1103G>C (p.Gly368Ala) | |
X | g.108622676G>T | CA413852469 | COL4A5 | c.2768G>T (p.Gly923Val) n.2224G>T c.1G>T c.2444G>T (p.Gly815Val) c.341G>T (p.Gly114Val) c.2783G>T (p.Gly928Val) c.1103G>T (p.Gly368Val) | |
X | g.108622677T>A | CA517924700 | COL4A5 | c.2769T>A (p.Gly923=) n.2225T>A c.2T>A c.2445T>A (p.Gly815=) c.342T>A (p.Gly114=) c.2784T>A (p.Gly928=) c.1104T>A (p.Gly368=) | |
X | g.108622677T>C | CA517924701 | COL4A5 | c.2769T>C (p.Gly923=) n.2225T>C c.2T>C c.2445T>C (p.Gly815=) c.342T>C (p.Gly114=) c.2784T>C (p.Gly928=) c.1104T>C (p.Gly368=) | ClinVar |
X | g.108622677T>G | CA517924702 | COL4A5 | c.2769T>G (p.Gly923=) n.2225T>G c.2T>G c.2445T>G (p.Gly815=) c.342T>G (p.Gly114=) c.2784T>G (p.Gly928=) c.1104T>G (p.Gly368=) | |
X | g.108622678G>A | CA413852473 | COL4A5 | c.2770G>A (p.Asp924Asn) n.2226G>A c.3G>A c.2446G>A (p.Asp816Asn) c.343G>A (p.Asp115Asn) c.2785G>A (p.Asp929Asn) c.1105G>A (p.Asp369Asn) | |
X | g.108622678G>C | CA413852476 | COL4A5 | c.2770G>C (p.Asp924His) n.2226G>C c.3G>C c.2446G>C (p.Asp816His) c.343G>C (p.Asp115His) c.2785G>C (p.Asp929His) c.1105G>C (p.Asp369His) | |
X | g.108622678G>T | CA413852479 | COL4A5 | c.2770G>T (p.Asp924Tyr) n.2226G>T c.3G>T c.2446G>T (p.Asp816Tyr) c.343G>T (p.Asp115Tyr) c.2785G>T (p.Asp929Tyr) c.1105G>T (p.Asp369Tyr) | |
X | g.108622679A>C | CA413852488 | COL4A5 | c.2771A>C (p.Asp924Ala) n.2227A>C c.4A>C c.2447A>C (p.Asp816Ala) c.344A>C (p.Asp115Ala) c.2786A>C (p.Asp929Ala) c.1106A>C (p.Asp369Ala) | |
X | g.108622679A>G | CA413852489 | COL4A5 | c.2771A>G (p.Asp924Gly) n.2227A>G c.4A>G c.2447A>G (p.Asp816Gly) c.344A>G (p.Asp115Gly) c.2786A>G (p.Asp929Gly) c.1106A>G (p.Asp369Gly) | |
X | g.108622679A>T | CA413852490 | COL4A5 | c.2771A>T (p.Asp924Val) n.2227A>T c.4A>T c.2447A>T (p.Asp816Val) c.344A>T (p.Asp115Val) c.2786A>T (p.Asp929Val) c.1106A>T (p.Asp369Val) | |
X | g.108622680T>A | CA413852491 | COL4A5 | c.2772T>A (p.Asp924Glu) n.2228T>A c.5T>A c.2448T>A (p.Asp816Glu) c.345T>A (p.Asp115Glu) c.2787T>A (p.Asp929Glu) c.1107T>A (p.Asp369Glu) | |
X | g.108622680T>C | CA517924708 | COL4A5 | c.2772T>C (p.Asp924=) n.2228T>C c.5T>C c.2448T>C (p.Asp816=) c.345T>C (p.Asp115=) c.2787T>C (p.Asp929=) c.1107T>C (p.Asp369=) | |
X | g.108622680T>G | CA413852492 | COL4A5 | c.2772T>G (p.Asp924Glu) n.2228T>G c.5T>G c.2448T>G (p.Asp816Glu) c.345T>G (p.Asp115Glu) c.2787T>G (p.Asp929Glu) c.1107T>G (p.Asp369Glu) | |
X | g.108622681G>A | CA413852495 | COL4A5 | c.2773G>A (p.Asp925Asn) n.2229G>A c.6G>A c.2449G>A (p.Asp817Asn) c.346G>A (p.Asp116Asn) c.2788G>A (p.Asp930Asn) c.1108G>A (p.Asp370Asn) | gnomAD v4 COSMIC |
X | g.108622681G>C | CA413852498 | COL4A5 | c.2773G>C (p.Asp925His) n.2229G>C c.6G>C c.2449G>C (p.Asp817His) c.346G>C (p.Asp116His) c.2788G>C (p.Asp930His) c.1108G>C (p.Asp370His) | |
X | g.108622681G>T | CA413852507 | COL4A5 | c.2773G>T (p.Asp925Tyr) n.2229G>T c.6G>T c.2449G>T (p.Asp817Tyr) c.346G>T (p.Asp116Tyr) c.2788G>T (p.Asp930Tyr) c.1108G>T (p.Asp370Tyr) | ClinVar |
X | g.108622682A>C | CA413852509 | COL4A5 | c.2774A>C (p.Asp925Ala) n.2230A>C c.7A>C c.2450A>C (p.Asp817Ala) c.347A>C (p.Asp116Ala) c.2789A>C (p.Asp930Ala) c.1109A>C (p.Asp370Ala) | |
X | g.108622682A>G | CA413852510 | COL4A5 | c.2774A>G (p.Asp925Gly) n.2230A>G c.7A>G c.2450A>G (p.Asp817Gly) c.347A>G (p.Asp116Gly) c.2789A>G (p.Asp930Gly) c.1109A>G (p.Asp370Gly) | |
X | g.108622682A>T | CA413852513 | COL4A5 | c.2774A>T (p.Asp925Val) n.2230A>T c.7A>T c.2450A>T (p.Asp817Val) c.347A>T (p.Asp116Val) c.2789A>T (p.Asp930Val) c.1109A>T (p.Asp370Val) | |
X | g.108622683T>A | CA413852517 | COL4A5 | c.2775T>A (p.Asp925Glu) n.2231T>A c.8T>A c.2451T>A (p.Asp817Glu) c.348T>A (p.Asp116Glu) c.2790T>A (p.Asp930Glu) c.1110T>A (p.Asp370Glu) | |
X | g.108622683T>C | CA517924712 | COL4A5 | c.2775T>C (p.Asp925=) n.2231T>C c.8T>C c.2451T>C (p.Asp817=) c.348T>C (p.Asp116=) c.2790T>C (p.Asp930=) c.1110T>C (p.Asp370=) | gnomAD v4 |
X | g.108622683T>G | CA413852520 | COL4A5 | c.2775T>G (p.Asp925Glu) n.2231T>G c.8T>G c.2451T>G (p.Asp817Glu) c.348T>G (p.Asp116Glu) c.2790T>G (p.Asp930Glu) c.1110T>G (p.Asp370Glu) | |
X | g.108622685_108622689del | CA2739290540 | COL4A5 | c.2777_2781del (p.Gly926AlafsTer15) n.2233_2237del c.10_14del c.2453_2457del (p.Gly818AlafsTer15) c.350_354del (p.Gly117AlafsTer15) c.2792_2796del (p.Gly931AlafsTer15) c.1112_1116del (p.Gly371AlafsTer15) | |
X | g.108622684G>A | CA413852525 | COL4A5 | c.2776G>A (p.Gly926Ser) n.2232G>A c.9G>A c.2452G>A (p.Gly818Ser) c.349G>A (p.Gly117Ser) c.2791G>A (p.Gly931Ser) c.1111G>A (p.Gly371Ser) | |
X | g.108622684G>C | CA413852528 | COL4A5 | c.2776G>C (p.Gly926Arg) n.2232G>C c.9G>C c.2452G>C (p.Gly818Arg) c.349G>C (p.Gly117Arg) c.2791G>C (p.Gly931Arg) c.1111G>C (p.Gly371Arg) | |
X | g.108622684G>T | CA413852531 | COL4A5 | c.2776G>T (p.Gly926Cys) n.2232G>T c.9G>T c.2452G>T (p.Gly818Cys) c.349G>T (p.Gly117Cys) c.2791G>T (p.Gly931Cys) c.1111G>T (p.Gly371Cys) | |
X | g.108622685G>A | CA413852535 | COL4A5 | c.2777G>A (p.Gly926Asp) n.2233G>A c.10G>A c.2453G>A (p.Gly818Asp) c.350G>A (p.Gly117Asp) c.2792G>A (p.Gly931Asp) c.1112G>A (p.Gly371Asp) | |
X | g.108622685G>C | CA413852538 | COL4A5 | c.2777G>C (p.Gly926Ala) n.2233G>C c.10G>C c.2453G>C (p.Gly818Ala) c.350G>C (p.Gly117Ala) c.2792G>C (p.Gly931Ala) c.1112G>C (p.Gly371Ala) | |
X | g.108622685G>T | CA413852540 | COL4A5 | c.2777G>T (p.Gly926Val) n.2233G>T c.10G>T c.2453G>T (p.Gly818Val) c.350G>T (p.Gly117Val) c.2792G>T (p.Gly931Val) c.1112G>T (p.Gly371Val) | ClinVar dbSNP |
X | g.108622686C>A | CA517924717 | COL4A5 | c.2778C>A (p.Gly926=) n.2234C>A c.11C>A c.2454C>A (p.Gly818=) c.351C>A (p.Gly117=) c.2793C>A (p.Gly931=) c.1113C>A (p.Gly371=) | |
X | g.108622686C= | CA2450696851 | COL4A5 | c.2778C= (p.Gly926=) n.2234C= c.11C= c.2454C= (p.Gly818=) c.351C= (p.Gly117=) c.2793C= (p.Gly931=) c.1113C= (p.Gly371=) | |
X | g.108622686C>G | CA517924714 | COL4A5 | c.2778C>G (p.Gly926=) n.2234C>G c.11C>G c.2454C>G (p.Gly818=) c.351C>G (p.Gly117=) c.2793C>G (p.Gly931=) c.1113C>G (p.Gly371=) | |
X | g.108622686C>T | CA10488987 | COL4A5 | c.2778C>T (p.Gly926=) n.2234C>T c.11C>T c.2454C>T (p.Gly818=) c.351C>T (p.Gly117=) c.2793C>T (p.Gly931=) c.1113C>T (p.Gly371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622687T>A | CA413852543 | COL4A5 | c.2779T>A (p.Leu927Met) n.2235T>A c.12T>A c.2455T>A (p.Leu819Met) c.352T>A (p.Leu118Met) c.2794T>A (p.Leu932Met) c.1114T>A (p.Leu372Met) | |
X | g.108622687T>C | CA517924718 | COL4A5 | c.2779T>C (p.Leu927=) n.2235T>C c.12T>C c.2455T>C (p.Leu819=) c.352T>C (p.Leu118=) c.2794T>C (p.Leu932=) c.1114T>C (p.Leu372=) | |
X | g.108622687T>G | CA413852544 | COL4A5 | c.2779T>G (p.Leu927Val) n.2235T>G c.12T>G c.2455T>G (p.Leu819Val) c.352T>G (p.Leu118Val) c.2794T>G (p.Leu932Val) c.1114T>G (p.Leu372Val) | |
X | g.108622688T>A | CA413852546 | COL4A5 | c.2780T>A (p.Leu927Ter) n.2236T>A c.13T>A c.2456T>A (p.Leu819Ter) c.353T>A (p.Leu118Ter) c.2795T>A (p.Leu932Ter) c.1115T>A (p.Leu372Ter) | |
X | g.108622688T>C | CA413852548 | COL4A5 | c.2780T>C (p.Leu927Ser) n.2236T>C c.13T>C c.2456T>C (p.Leu819Ser) c.353T>C (p.Leu118Ser) c.2795T>C (p.Leu932Ser) c.1115T>C (p.Leu372Ser) | |
X | g.108622688T>G | CA413852550 | COL4A5 | c.2780T>G (p.Leu927Trp) n.2236T>G c.13T>G c.2456T>G (p.Leu819Trp) c.353T>G (p.Leu118Trp) c.2795T>G (p.Leu932Trp) c.1115T>G (p.Leu372Trp) | |
X | g.108622689G>A | CA517924720 | COL4A5 | c.2781G>A (p.Leu927=) n.2237G>A c.14G>A c.2457G>A (p.Leu819=) c.354G>A (p.Leu118=) c.2796G>A (p.Leu932=) c.1116G>A (p.Leu372=) | gnomAD v4 |
X | g.108622689G>C | CA413852552 | COL4A5 | c.2781G>C (p.Leu927Phe) n.2237G>C c.14G>C c.2457G>C (p.Leu819Phe) c.354G>C (p.Leu118Phe) c.2796G>C (p.Leu932Phe) c.1116G>C (p.Leu372Phe) | |
X | g.108622689G= | CA2450696852 | COL4A5 | c.2781G= (p.Leu927=) n.2237G= c.14G= c.2457G= (p.Leu819=) c.354G= (p.Leu118=) c.2796G= (p.Leu932=) c.1116G= (p.Leu372=) | |
X | g.108622689G>T | CA413852554 | COL4A5 | c.2781G>T (p.Leu927Phe) n.2237G>T c.14G>T c.2457G>T (p.Leu819Phe) c.354G>T (p.Leu118Phe) c.2796G>T (p.Leu932Phe) c.1116G>T (p.Leu372Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108622690C>A | CA413852557 | COL4A5 | c.2782C>A (p.Gln928Lys) n.2238C>A c.15C>A c.2458C>A (p.Gln820Lys) c.355C>A (p.Gln119Lys) c.2797C>A (p.Gln933Lys) c.1117C>A (p.Gln373Lys) | |
X | g.108622690C= | CA2450696853 | COL4A5 | c.2782C= (p.Gln928=) n.2238C= c.15C= c.2458C= (p.Gln820=) c.355C= (p.Gln119=) c.2797C= (p.Gln933=) c.1117C= (p.Gln373=) | |
X | g.108622690C>G | CA413852560 | COL4A5 | c.2782C>G (p.Gln928Glu) n.2238C>G c.15C>G c.2458C>G (p.Gln820Glu) c.355C>G (p.Gln119Glu) c.2797C>G (p.Gln933Glu) c.1117C>G (p.Gln373Glu) | |
X | g.108622690C>T | CA258758 | COL4A5 | c.2782C>T (p.Gln928Ter) n.2238C>T c.15C>T c.2458C>T (p.Gln820Ter) c.355C>T (p.Gln119Ter) c.2797C>T (p.Gln933Ter) c.1117C>T (p.Gln373Ter) | dbSNP gnomAD v4 |
X | g.108622691A>C | CA413852563 | COL4A5 | c.2783A>C (p.Gln928Pro) n.2239A>C c.16A>C c.2459A>C (p.Gln820Pro) c.356A>C (p.Gln119Pro) c.2798A>C (p.Gln933Pro) c.1118A>C (p.Gln373Pro) | gnomAD v4 |
X | g.108622691A>G | CA413852567 | COL4A5 | c.2783A>G (p.Gln928Arg) n.2239A>G c.16A>G c.2459A>G (p.Gln820Arg) c.356A>G (p.Gln119Arg) c.2798A>G (p.Gln933Arg) c.1118A>G (p.Gln373Arg) | |
X | g.108622691A>T | CA413852564 | COL4A5 | c.2783A>T (p.Gln928Leu) n.2239A>T c.16A>T c.2459A>T (p.Gln820Leu) c.356A>T (p.Gln119Leu) c.2798A>T (p.Gln933Leu) c.1118A>T (p.Gln373Leu) | |
X | g.108622692G>A | CA517924722 | COL4A5 | c.2784G>A (p.Gln928=) n.2240G>A c.17G>A c.2460G>A (p.Gln820=) c.357G>A (p.Gln119=) c.2799G>A (p.Gln933=) c.1119G>A (p.Gln373=) | |
X | g.108622692G>C | CA413852569 | COL4A5 | c.2784G>C (p.Gln928His) n.2240G>C c.17G>C c.2460G>C (p.Gln820His) c.357G>C (p.Gln119His) c.2799G>C (p.Gln933His) c.1119G>C (p.Gln373His) | |
X | g.108622692G>T | CA413852570 | COL4A5 | c.2784G>T (p.Gln928His) n.2240G>T c.17G>T c.2460G>T (p.Gln820His) c.357G>T (p.Gln119His) c.2799G>T (p.Gln933His) c.1119G>T (p.Gln373His) | |
X | g.108622694del | CA2499226320 | COL4A5 | c.2786del (p.Gly929ValfsTer?) n.2242del c.19del c.2462del (p.Gly821ValfsTer?) c.359del (p.Gly120ValfsTer?) c.2801del (p.Gly934ValfsTer?) c.1121del (p.Gly374ValfsTer?) | ClinVar dbSNP |
X | g.108622693G>A | CA413852572 | COL4A5 | c.2785G>A (p.Gly929Ser) n.2241G>A c.18G>A c.2461G>A (p.Gly821Ser) c.358G>A (p.Gly120Ser) c.2800G>A (p.Gly934Ser) c.1120G>A (p.Gly374Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108622693G>C | CA413852573 | COL4A5 | c.2785G>C (p.Gly929Arg) n.2241G>C c.18G>C c.2461G>C (p.Gly821Arg) c.358G>C (p.Gly120Arg) c.2800G>C (p.Gly934Arg) c.1120G>C (p.Gly374Arg) | |
X | g.108622693G= | CA2450696854 | COL4A5 | c.2785G= (p.Gly929=) n.2241G= c.18G= c.2461G= (p.Gly821=) c.358G= (p.Gly120=) c.2800G= (p.Gly934=) c.1120G= (p.Gly374=) | |
X | g.108622693G>T | CA413852575 | COL4A5 | c.2785G>T (p.Gly929Cys) n.2241G>T c.18G>T c.2461G>T (p.Gly821Cys) c.358G>T (p.Gly120Cys) c.2800G>T (p.Gly934Cys) c.1120G>T (p.Gly374Cys) | |
X | g.108622694G>A | CA413852577 | COL4A5 | c.2786G>A (p.Gly929Asp) n.2242G>A c.19G>A c.2462G>A (p.Gly821Asp) c.359G>A (p.Gly120Asp) c.2801G>A (p.Gly934Asp) c.1121G>A (p.Gly374Asp) | ClinVar dbSNP |
X | g.108622694G>C | CA413852578 | COL4A5 | c.2786G>C (p.Gly929Ala) n.2242G>C c.19G>C c.2462G>C (p.Gly821Ala) c.359G>C (p.Gly120Ala) c.2801G>C (p.Gly934Ala) c.1121G>C (p.Gly374Ala) | |
X | g.108622694G>T | CA413852580 | COL4A5 | c.2786G>T (p.Gly929Val) n.2242G>T c.19G>T c.2462G>T (p.Gly821Val) c.359G>T (p.Gly120Val) c.2801G>T (p.Gly934Val) c.1121G>T (p.Gly374Val) | |
X | g.108622695T>A | CA517924725 | COL4A5 | c.2787T>A (p.Gly929=) n.2243T>A c.20T>A c.2463T>A (p.Gly821=) c.360T>A (p.Gly120=) c.2802T>A (p.Gly934=) c.1122T>A (p.Gly374=) | |
X | g.108622695T>C | CA517924726 | COL4A5 | c.2787T>C (p.Gly929=) n.2243T>C c.20T>C c.2463T>C (p.Gly821=) c.360T>C (p.Gly120=) c.2802T>C (p.Gly934=) c.1122T>C (p.Gly374=) | |
X | g.108622695T>G | CA517924727 | COL4A5 | c.2787T>G (p.Gly929=) n.2243T>G c.20T>G c.2463T>G (p.Gly821=) c.360T>G (p.Gly120=) c.2802T>G (p.Gly934=) c.1122T>G (p.Gly374=) | |
X | g.108622696C>A | CA413852583 | COL4A5 | c.2788C>A (p.Gln930Lys) n.2244C>A c.21C>A c.2464C>A (p.Gln822Lys) c.361C>A (p.Gln121Lys) c.2803C>A (p.Gln935Lys) c.1123C>A (p.Gln375Lys) | |
X | g.108622696C= | CA2450696855 | COL4A5 | c.2788C= (p.Gln930=) n.2244C= c.21C= c.2464C= (p.Gln822=) c.361C= (p.Gln121=) c.2803C= (p.Gln935=) c.1123C= (p.Gln375=) | |
X | g.108622696C>G | CA413852585 | COL4A5 | c.2788C>G (p.Gln930Glu) n.2244C>G c.21C>G c.2464C>G (p.Gln822Glu) c.361C>G (p.Gln121Glu) c.2803C>G (p.Gln935Glu) c.1123C>G (p.Gln375Glu) | |
X | g.108622696C>T | CA258762 | COL4A5 | c.2788C>T (p.Gln930Ter) n.2244C>T c.21C>T c.2464C>T (p.Gln822Ter) c.361C>T (p.Gln121Ter) c.2803C>T (p.Gln935Ter) c.1123C>T (p.Gln375Ter) | dbSNP |
X | g.108622697A>C | CA413852591 | COL4A5 | c.2789A>C (p.Gln930Pro) n.2245A>C c.22A>C c.2465A>C (p.Gln822Pro) c.362A>C (p.Gln121Pro) c.2804A>C (p.Gln935Pro) c.1124A>C (p.Gln375Pro) | |
X | g.108622697A>G | CA413852589 | COL4A5 | c.2789A>G (p.Gln930Arg) n.2245A>G c.22A>G c.2465A>G (p.Gln822Arg) c.362A>G (p.Gln121Arg) c.2804A>G (p.Gln935Arg) c.1124A>G (p.Gln375Arg) | |
X | g.108622697A>T | CA413852588 | COL4A5 | c.2789A>T (p.Gln930Leu) n.2245A>T c.22A>T c.2465A>T (p.Gln822Leu) c.362A>T (p.Gln121Leu) c.2804A>T (p.Gln935Leu) c.1124A>T (p.Gln375Leu) | COSMIC COSMIC |
X | g.108622698G>A | CA517924728 | COL4A5 | c.2790G>A (p.Gln930=) n.2246G>A c.23G>A c.2466G>A (p.Gln822=) c.363G>A (p.Gln121=) c.2805G>A (p.Gln935=) c.1125G>A (p.Gln375=) | ClinVar gnomAD v4 |
X | g.108622698G>C | CA413852593 | COL4A5 | c.2790G>C (p.Gln930His) n.2246G>C c.23G>C c.2466G>C (p.Gln822His) c.363G>C (p.Gln121His) c.2805G>C (p.Gln935His) c.1125G>C (p.Gln375His) | |
X | g.108622698G>T | CA413852595 | COL4A5 | c.2790G>T (p.Gln930His) n.2246G>T c.23G>T c.2466G>T (p.Gln822His) c.363G>T (p.Gln121His) c.2805G>T (p.Gln935His) c.1125G>T (p.Gln375His) | |
X | g.108622699C>A | CA413852597 | COL4A5 | c.2791C>A (p.Pro931Thr) n.2247C>A c.24C>A c.2467C>A (p.Pro823Thr) c.364C>A (p.Pro122Thr) c.2806C>A (p.Pro936Thr) c.1126C>A (p.Pro376Thr) | |
X | g.108622699C>G | CA413852599 | COL4A5 | c.2791C>G (p.Pro931Ala) n.2247C>G c.24C>G c.2467C>G (p.Pro823Ala) c.364C>G (p.Pro122Ala) c.2806C>G (p.Pro936Ala) c.1126C>G (p.Pro376Ala) | |
X | g.108622699C>T | CA413852601 | COL4A5 | c.2791C>T (p.Pro931Ser) n.2247C>T c.24C>T c.2467C>T (p.Pro823Ser) c.364C>T (p.Pro122Ser) c.2806C>T (p.Pro936Ser) c.1126C>T (p.Pro376Ser) | |
X | g.108622700C>A | CA413852602 | COL4A5 | c.2792C>A (p.Pro931Gln) n.2248C>A c.25C>A c.2468C>A (p.Pro823Gln) c.365C>A (p.Pro122Gln) c.2807C>A (p.Pro936Gln) c.1127C>A (p.Pro376Gln) | |
X | g.108622700C>G | CA413852604 | COL4A5 | c.2792C>G (p.Pro931Arg) n.2248C>G c.25C>G c.2468C>G (p.Pro823Arg) c.365C>G (p.Pro122Arg) c.2807C>G (p.Pro936Arg) c.1127C>G (p.Pro376Arg) | |
X | g.108622700C>T | CA413852606 | COL4A5 | c.2792C>T (p.Pro931Leu) n.2248C>T c.25C>T c.2468C>T (p.Pro823Leu) c.365C>T (p.Pro122Leu) c.2807C>T (p.Pro936Leu) c.1127C>T (p.Pro376Leu) | gnomAD v4 |
X | g.108622701A= | CA2450696856 | COL4A5 | c.2793A= (p.Pro931=) n.2249A= c.26A= c.2469A= (p.Pro823=) c.366A= (p.Pro122=) c.2808A= (p.Pro936=) c.1128A= (p.Pro376=) | |
X | g.108622701A>C | CA517924729 | COL4A5 | c.2793A>C (p.Pro931=) n.2249A>C c.26A>C c.2469A>C (p.Pro823=) c.366A>C (p.Pro122=) c.2808A>C (p.Pro936=) c.1128A>C (p.Pro376=) | |
X | g.108622701A>G | CA517924730 | COL4A5 | c.2793A>G (p.Pro931=) n.2249A>G c.26A>G c.2469A>G (p.Pro823=) c.366A>G (p.Pro122=) c.2808A>G (p.Pro936=) c.1128A>G (p.Pro376=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108622701A>T | CA517924731 | COL4A5 | c.2793A>T (p.Pro931=) n.2249A>T c.26A>T c.2469A>T (p.Pro823=) c.366A>T (p.Pro122=) c.2808A>T (p.Pro936=) c.1128A>T (p.Pro376=) | |
X | g.108622702G>A | CA413852608 | COL4A5 | c.2794G>A (p.Gly932Arg) n.2250G>A c.27G>A c.2470G>A (p.Gly824Arg) c.367G>A (p.Gly123Arg) c.2809G>A (p.Gly937Arg) c.1129G>A (p.Gly377Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108622702G>C | CA413852610 | COL4A5 | c.2794G>C (p.Gly932Arg) n.2250G>C c.27G>C c.2470G>C (p.Gly824Arg) c.367G>C (p.Gly123Arg) c.2809G>C (p.Gly937Arg) c.1129G>C (p.Gly377Arg) | ClinVar |
X | g.108622702G>T | CA413852612 | COL4A5 | c.2794G>T (p.Gly932Ter) n.2250G>T c.27G>T c.2470G>T (p.Gly824Ter) c.367G>T (p.Gly123Ter) c.2809G>T (p.Gly937Ter) c.1129G>T (p.Gly377Ter) | |
X | g.108622703G>A | CA413852617 | COL4A5 | c.2795G>A (p.Gly932Glu) n.2251G>A c.28G>A c.2471G>A (p.Gly824Glu) c.368G>A (p.Gly123Glu) c.2810G>A (p.Gly937Glu) c.1130G>A (p.Gly377Glu) | |
X | g.108622703G>C | CA413852615 | COL4A5 | c.2795G>C (p.Gly932Ala) n.2251G>C c.28G>C c.2471G>C (p.Gly824Ala) c.368G>C (p.Gly123Ala) c.2810G>C (p.Gly937Ala) c.1130G>C (p.Gly377Ala) | |
X | g.108622703G>T | CA413852614 | COL4A5 | c.2795G>T (p.Gly932Val) n.2251G>T c.28G>T c.2471G>T (p.Gly824Val) c.368G>T (p.Gly123Val) c.2810G>T (p.Gly937Val) c.1130G>T (p.Gly377Val) | |
X | g.108622704del | CA2552964910 | COL4A5 | c.2796del (p.Leu933PhefsTer?) n.2252del c.29del c.2472del (p.Leu825PhefsTer?) c.369del (p.Leu124PhefsTer?) c.2811del (p.Leu938PhefsTer?) c.1131del (p.Leu378PhefsTer?) | |
X | g.108622704A>C | CA517924732 | COL4A5 | c.2796A>C (p.Gly932=) n.2252A>C c.29A>C c.2472A>C (p.Gly824=) c.369A>C (p.Gly123=) c.2811A>C (p.Gly937=) c.1131A>C (p.Gly377=) | |
X | g.108622704A>G | CA517924733 | COL4A5 | c.2796A>G (p.Gly932=) n.2252A>G c.29A>G c.2472A>G (p.Gly824=) c.369A>G (p.Gly123=) c.2811A>G (p.Gly937=) c.1131A>G (p.Gly377=) | |
X | g.108622704A>T | CA517924734 | COL4A5 | c.2796A>T (p.Gly932=) n.2252A>T c.29A>T c.2472A>T (p.Gly824=) c.369A>T (p.Gly123=) c.2811A>T (p.Gly937=) c.1131A>T (p.Gly377=) | |
X | g.108622705C>A | CA413852619 | COL4A5 | c.2797C>A (p.Leu933Ile) n.2253C>A c.30C>A c.2473C>A (p.Leu825Ile) c.370C>A (p.Leu124Ile) c.2812C>A (p.Leu938Ile) c.1132C>A (p.Leu378Ile) | |
X | g.108622705C= | CA2450696857 | COL4A5 | c.2797C= (p.Leu933=) n.2253C= c.30C= c.2473C= (p.Leu825=) c.370C= (p.Leu124=) c.2812C= (p.Leu938=) c.1132C= (p.Leu378=) | |
X | g.108622705C>G | CA413852620 | COL4A5 | c.2797C>G (p.Leu933Val) n.2253C>G c.30C>G c.2473C>G (p.Leu825Val) c.370C>G (p.Leu124Val) c.2812C>G (p.Leu938Val) c.1132C>G (p.Leu378Val) | |
X | g.108622705C>T | CA10488988 | COL4A5 | c.2797C>T (p.Leu933Phe) n.2253C>T c.30C>T c.2473C>T (p.Leu825Phe) c.370C>T (p.Leu124Phe) c.2812C>T (p.Leu938Phe) c.1132C>T (p.Leu378Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622706T>A | CA413852624 | COL4A5 | c.2798T>A (p.Leu933His) n.2254T>A c.31T>A c.2474T>A (p.Leu825His) c.371T>A (p.Leu124His) c.2813T>A (p.Leu938His) c.1133T>A (p.Leu378His) | |
X | g.108622706T>C | CA413852625 | COL4A5 | c.2798T>C (p.Leu933Pro) n.2254T>C c.31T>C c.2474T>C (p.Leu825Pro) c.371T>C (p.Leu124Pro) c.2813T>C (p.Leu938Pro) c.1133T>C (p.Leu378Pro) | |
X | g.108622706T>G | CA413852627 | COL4A5 | c.2798T>G (p.Leu933Arg) n.2254T>G c.31T>G c.2474T>G (p.Leu825Arg) c.371T>G (p.Leu124Arg) c.2813T>G (p.Leu938Arg) c.1133T>G (p.Leu378Arg) | |
X | g.108622707T>A | CA517924737 | COL4A5 | c.2799T>A (p.Leu933=) n.2255T>A c.32T>A c.2475T>A (p.Leu825=) c.372T>A (p.Leu124=) c.2814T>A (p.Leu938=) c.1134T>A (p.Leu378=) | |
X | g.108622707T>C | CA517924735 | COL4A5 | c.2799T>C (p.Leu933=) n.2255T>C c.32T>C c.2475T>C (p.Leu825=) c.372T>C (p.Leu124=) c.2814T>C (p.Leu938=) c.1134T>C (p.Leu378=) | ClinVar |
X | g.108622707T>G | CA517924736 | COL4A5 | c.2799T>G (p.Leu933=) n.2255T>G c.32T>G c.2475T>G (p.Leu825=) c.372T>G (p.Leu124=) c.2814T>G (p.Leu938=) c.1134T>G (p.Leu378=) | |
X | g.108622707_108622759del | CA2566557330 | COL4A5 | c.2799_2851del (p.Pro934SerfsTer?) n.2255_2307del c.32_84del c.2475_2527del (p.Pro826SerfsTer?) c.372_424del (p.Pro125SerfsTer?) c.2814_2866del (p.Pro939SerfsTer?) c.1134_1186del (p.Pro379SerfsTer?) | |
X | g.108622708C>A | CA413852629 | COL4A5 | c.2800C>A (p.Pro934Thr) n.2256C>A c.33C>A c.2476C>A (p.Pro826Thr) c.373C>A (p.Pro125Thr) c.2815C>A (p.Pro939Thr) c.1135C>A (p.Pro379Thr) | |
X | g.108622708C>G | CA413852631 | COL4A5 | c.2800C>G (p.Pro934Ala) n.2256C>G c.33C>G c.2476C>G (p.Pro826Ala) c.373C>G (p.Pro125Ala) c.2815C>G (p.Pro939Ala) c.1135C>G (p.Pro379Ala) | |
X | g.108622708C>T | CA413852632 | COL4A5 | c.2800C>T (p.Pro934Ser) n.2256C>T c.33C>T c.2476C>T (p.Pro826Ser) c.373C>T (p.Pro125Ser) c.2815C>T (p.Pro939Ser) c.1135C>T (p.Pro379Ser) | COSMIC |
X | g.108622709del | CA2739290541 | COL4A5 | c.2801del (p.Pro934LeufsTer?) n.2257del c.34del c.2477del (p.Pro826LeufsTer?) c.374del (p.Pro125LeufsTer?) c.2816del (p.Pro939LeufsTer?) c.1136del (p.Pro379LeufsTer?) | |
X | g.108622711_108622716del | CA2695235223 | COL4A5 | c.2803_2808del (p.Gly935_Pro936del) n.2259_2264del c.36_41del c.2479_2484del (p.Gly827_Pro828del) c.376_381del (p.Gly126_Pro127del) c.2818_2823del (p.Gly940_Pro941del) c.1138_1143del (p.Gly380_Pro381del) | |
X | g.108622709C>A | CA413852634 | COL4A5 | c.2801C>A (p.Pro934His) n.2257C>A c.34C>A c.2477C>A (p.Pro826His) c.374C>A (p.Pro125His) c.2816C>A (p.Pro939His) c.1136C>A (p.Pro379His) | |
X | g.108622709C= | CA2450696858 | COL4A5 | c.2801C= (p.Pro934=) n.2257C= c.34C= c.2477C= (p.Pro826=) c.374C= (p.Pro125=) c.2816C= (p.Pro939=) c.1136C= (p.Pro379=) | |
X | g.108622709C>G | CA413852636 | COL4A5 | c.2801C>G (p.Pro934Arg) n.2257C>G c.34C>G c.2477C>G (p.Pro826Arg) c.374C>G (p.Pro125Arg) c.2816C>G (p.Pro939Arg) c.1136C>G (p.Pro379Arg) | |
X | g.108622709C>T | CA413852638 | COL4A5 | c.2801C>T (p.Pro934Leu) n.2257C>T c.34C>T c.2477C>T (p.Pro826Leu) c.374C>T (p.Pro125Leu) c.2816C>T (p.Pro939Leu) c.1136C>T (p.Pro379Leu) | |
X | g.108622710T>A | CA517924738 | COL4A5 | c.2802T>A (p.Pro934=) n.2258T>A c.35T>A c.2478T>A (p.Pro826=) c.375T>A (p.Pro125=) c.2817T>A (p.Pro939=) c.1137T>A (p.Pro379=) | |
X | g.108622710T>C | CA517924739 | COL4A5 | c.2802T>C (p.Pro934=) n.2258T>C c.35T>C c.2478T>C (p.Pro826=) c.375T>C (p.Pro125=) c.2817T>C (p.Pro939=) c.1137T>C (p.Pro379=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108622710T>G | CA517924740 | COL4A5 | c.2802T>G (p.Pro934=) n.2258T>G c.35T>G c.2478T>G (p.Pro826=) c.375T>G (p.Pro125=) c.2817T>G (p.Pro939=) c.1137T>G (p.Pro379=) | |
X | g.108622710T= | CA2450696859 | COL4A5 | c.2802T= (p.Pro934=) n.2258T= c.35T= c.2478T= (p.Pro826=) c.375T= (p.Pro125=) c.2817T= (p.Pro939=) c.1137T= (p.Pro379=) | |
X | g.108622710dup | CA258765 | COL4A5 | c.2802dup (p.Gly935TrpfsTer8) n.2258dup c.35dup c.2478dup (p.Gly827TrpfsTer8) c.375dup (p.Gly126TrpfsTer8) c.2817dup (p.Gly940TrpfsTer8) c.1137dup (p.Gly380TrpfsTer8) | ClinVar dbSNP |
X | g.108622711G>A | CA413852644 | COL4A5 | c.2803G>A (p.Gly935Ser) n.2259G>A c.36G>A c.2479G>A (p.Gly827Ser) c.376G>A (p.Gly126Ser) c.2818G>A (p.Gly940Ser) c.1138G>A (p.Gly380Ser) | |
X | g.108622711G>C | CA413852640 | COL4A5 | c.2803G>C (p.Gly935Arg) n.2259G>C c.36G>C c.2479G>C (p.Gly827Arg) c.376G>C (p.Gly126Arg) c.2818G>C (p.Gly940Arg) c.1138G>C (p.Gly380Arg) | |
X | g.108622711G>T | CA413852642 | COL4A5 | c.2803G>T (p.Gly935Cys) n.2259G>T c.36G>T c.2479G>T (p.Gly827Cys) c.376G>T (p.Gly126Cys) c.2818G>T (p.Gly940Cys) c.1138G>T (p.Gly380Cys) | |
X | g.108622712G>A | CA258766 | COL4A5 | c.2804G>A (p.Gly935Asp) n.2260G>A c.37G>A c.2480G>A (p.Gly827Asp) c.377G>A (p.Gly126Asp) c.2819G>A (p.Gly940Asp) c.1139G>A (p.Gly380Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108622712G>C | CA413852646 | COL4A5 | c.2804G>C (p.Gly935Ala) n.2260G>C c.37G>C c.2480G>C (p.Gly827Ala) c.377G>C (p.Gly126Ala) c.2819G>C (p.Gly940Ala) c.1139G>C (p.Gly380Ala) | |
X | g.108622712G= | CA2450696860 | COL4A5 | c.2804G= (p.Gly935=) n.2260G= c.37G= c.2480G= (p.Gly827=) c.377G= (p.Gly126=) c.2819G= (p.Gly940=) c.1139G= (p.Gly380=) | |
X | g.108622712G>T | CA413852648 | COL4A5 | c.2804G>T (p.Gly935Val) n.2260G>T c.37G>T c.2480G>T (p.Gly827Val) c.377G>T (p.Gly126Val) c.2819G>T (p.Gly940Val) c.1139G>T (p.Gly380Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108622713C>A | CA517924741 | COL4A5 | c.2805C>A (p.Gly935=) n.2261C>A c.38C>A c.2481C>A (p.Gly827=) c.378C>A (p.Gly126=) c.2820C>A (p.Gly940=) c.1140C>A (p.Gly380=) | gnomAD v4 |
X | g.108622713C>G | CA517924742 | COL4A5 | c.2805C>G (p.Gly935=) n.2261C>G c.38C>G c.2481C>G (p.Gly827=) c.378C>G (p.Gly126=) c.2820C>G (p.Gly940=) c.1140C>G (p.Gly380=) | |
X | g.108622713C>T | CA517924743 | COL4A5 | c.2805C>T (p.Gly935=) n.2261C>T c.38C>T c.2481C>T (p.Gly827=) c.378C>T (p.Gly126=) c.2820C>T (p.Gly940=) c.1140C>T (p.Gly380=) | |
X | g.108622714C>A | CA413852651 | COL4A5 | c.2806C>A (p.Pro936Thr) n.2262C>A c.39C>A c.2482C>A (p.Pro828Thr) c.379C>A (p.Pro127Thr) c.2821C>A (p.Pro941Thr) c.1141C>A (p.Pro381Thr) | |
X | g.108622714C>G | CA413852653 | COL4A5 | c.2806C>G (p.Pro936Ala) n.2262C>G c.39C>G c.2482C>G (p.Pro828Ala) c.379C>G (p.Pro127Ala) c.2821C>G (p.Pro941Ala) c.1141C>G (p.Pro381Ala) | |
X | g.108622714C>T | CA413852655 | COL4A5 | c.2806C>T (p.Pro936Ser) n.2262C>T c.39C>T c.2482C>T (p.Pro828Ser) c.379C>T (p.Pro127Ser) c.2821C>T (p.Pro941Ser) c.1141C>T (p.Pro381Ser) | |
X | g.108622715C>A | CA413852657 | COL4A5 | c.2807C>A (p.Pro936His) n.2263C>A c.40C>A c.2483C>A (p.Pro828His) c.380C>A (p.Pro127His) c.2822C>A (p.Pro941His) c.1142C>A (p.Pro381His) | |
X | g.108622715C= | CA2450696861 | COL4A5 | c.2807C= (p.Pro936=) n.2263C= c.40C= c.2483C= (p.Pro828=) c.380C= (p.Pro127=) c.2822C= (p.Pro941=) c.1142C= (p.Pro381=) | |
X | g.108622715C>G | CA413852659 | COL4A5 | c.2807C>G (p.Pro936Arg) n.2263C>G c.40C>G c.2483C>G (p.Pro828Arg) c.380C>G (p.Pro127Arg) c.2822C>G (p.Pro941Arg) c.1142C>G (p.Pro381Arg) | ClinVar |
X | g.108622715C>T | CA413852660 | COL4A5 | c.2807C>T (p.Pro936Leu) n.2263C>T c.40C>T c.2483C>T (p.Pro828Leu) c.380C>T (p.Pro127Leu) c.2822C>T (p.Pro941Leu) c.1142C>T (p.Pro381Leu) | dbSNP |
X | g.108622716T>A | CA517924744 | COL4A5 | c.2808T>A (p.Pro936=) n.2264T>A c.41T>A c.2484T>A (p.Pro828=) c.381T>A (p.Pro127=) c.2823T>A (p.Pro941=) c.1143T>A (p.Pro381=) | |
X | g.108622716T>C | CA517924745 | COL4A5 | c.2808T>C (p.Pro936=) n.2264T>C c.41T>C c.2484T>C (p.Pro828=) c.381T>C (p.Pro127=) c.2823T>C (p.Pro941=) c.1143T>C (p.Pro381=) | ClinVar gnomAD v4 |
X | g.108622716T>G | CA517924746 | COL4A5 | c.2808T>G (p.Pro936=) n.2264T>G c.41T>G c.2484T>G (p.Pro828=) c.381T>G (p.Pro127=) c.2823T>G (p.Pro941=) c.1143T>G (p.Pro381=) | |
X | g.108622717A>C | CA413852663 | COL4A5 | c.2809A>C (p.Thr937Pro) n.2265A>C c.42A>C c.2485A>C (p.Thr829Pro) c.382A>C (p.Thr128Pro) c.2824A>C (p.Thr942Pro) c.1144A>C (p.Thr382Pro) | |
X | g.108622717A>G | CA413852665 | COL4A5 | c.2809A>G (p.Thr937Ala) n.2265A>G c.42A>G c.2485A>G (p.Thr829Ala) c.382A>G (p.Thr128Ala) c.2824A>G (p.Thr942Ala) c.1144A>G (p.Thr382Ala) | |
X | g.108622717A>T | CA413852667 | COL4A5 | c.2809A>T (p.Thr937Ser) n.2265A>T c.42A>T c.2485A>T (p.Thr829Ser) c.382A>T (p.Thr128Ser) c.2824A>T (p.Thr942Ser) c.1144A>T (p.Thr382Ser) | |
X | g.108622718C>A | CA413852672 | COL4A5 | c.2810C>A (p.Thr937Lys) n.2266C>A c.43C>A c.2486C>A (p.Thr829Lys) c.383C>A (p.Thr128Lys) c.2825C>A (p.Thr942Lys) c.1145C>A (p.Thr382Lys) | |
X | g.108622718C>G | CA413852671 | COL4A5 | c.2810C>G (p.Thr937Arg) n.2266C>G c.43C>G c.2486C>G (p.Thr829Arg) c.383C>G (p.Thr128Arg) c.2825C>G (p.Thr942Arg) c.1145C>G (p.Thr382Arg) | |
X | g.108622718C>T | CA413852670 | COL4A5 | c.2810C>T (p.Thr937Ile) n.2266C>T c.43C>T c.2486C>T (p.Thr829Ile) c.383C>T (p.Thr128Ile) c.2825C>T (p.Thr942Ile) c.1145C>T (p.Thr382Ile) | |
X | g.108622719A= | CA2450696862 | COL4A5 | c.2811A= (p.Thr937=) n.2267A= c.44A= c.2487A= (p.Thr829=) c.384A= (p.Thr128=) c.2826A= (p.Thr942=) c.1146A= (p.Thr382=) | |
X | g.108622719A>C | CA517924747 | COL4A5 | c.2811A>C (p.Thr937=) n.2267A>C c.44A>C c.2487A>C (p.Thr829=) c.384A>C (p.Thr128=) c.2826A>C (p.Thr942=) c.1146A>C (p.Thr382=) | |
X | g.108622719A>G | CA517924748 | COL4A5 | c.2811A>G (p.Thr937=) n.2267A>G c.44A>G c.2487A>G (p.Thr829=) c.384A>G (p.Thr128=) c.2826A>G (p.Thr942=) c.1146A>G (p.Thr382=) | |
X | g.108622719A>T | CA517924749 | COL4A5 | c.2811A>T (p.Thr937=) n.2267A>T c.44A>T c.2487A>T (p.Thr829=) c.384A>T (p.Thr128=) c.2826A>T (p.Thr942=) c.1146A>T (p.Thr382=) | dbSNP |
X | g.108622720G>A | CA413852677 | COL4A5 | c.2812G>A (p.Gly938Arg) n.2268G>A c.45G>A c.2488G>A (p.Gly830Arg) c.385G>A (p.Gly129Arg) c.2827G>A (p.Gly943Arg) c.1147G>A (p.Gly383Arg) | |
X | g.108622720G>C | CA413852675 | COL4A5 | c.2812G>C (p.Gly938Arg) n.2268G>C c.45G>C c.2488G>C (p.Gly830Arg) c.385G>C (p.Gly129Arg) c.2827G>C (p.Gly943Arg) c.1147G>C (p.Gly383Arg) | |
X | g.108622720G>T | CA413852680 | COL4A5 | c.2812G>T (p.Gly938Ter) n.2268G>T c.45G>T c.2488G>T (p.Gly830Ter) c.385G>T (p.Gly129Ter) c.2827G>T (p.Gly943Ter) c.1147G>T (p.Gly383Ter) | |
X | g.108622721G>A | CA413852681 | COL4A5 | c.2813G>A (p.Gly938Glu) n.2269G>A c.46G>A c.2489G>A (p.Gly830Glu) c.386G>A (p.Gly129Glu) c.2828G>A (p.Gly943Glu) c.1148G>A (p.Gly383Glu) | gnomAD v4 COSMIC COSMIC |
X | g.108622721G>C | CA413852683 | COL4A5 | c.2813G>C (p.Gly938Ala) n.2269G>C c.46G>C c.2489G>C (p.Gly830Ala) c.386G>C (p.Gly129Ala) c.2828G>C (p.Gly943Ala) c.1148G>C (p.Gly383Ala) | |
X | g.108622721G>T | CA413852685 | COL4A5 | c.2813G>T (p.Gly938Val) n.2269G>T c.46G>T c.2489G>T (p.Gly830Val) c.386G>T (p.Gly129Val) c.2828G>T (p.Gly943Val) c.1148G>T (p.Gly383Val) | |
X | g.108622722A>C | CA517924750 | COL4A5 | c.2814A>C (p.Gly938=) n.2270A>C c.47A>C c.2490A>C (p.Gly830=) c.387A>C (p.Gly129=) c.2829A>C (p.Gly943=) c.1149A>C (p.Gly383=) | |
X | g.108622722A>G | CA517924751 | COL4A5 | c.2814A>G (p.Gly938=) n.2270A>G c.47A>G c.2490A>G (p.Gly830=) c.387A>G (p.Gly129=) c.2829A>G (p.Gly943=) c.1149A>G (p.Gly383=) | |
X | g.108622722A>T | CA517924752 | COL4A5 | c.2814A>T (p.Gly938=) n.2270A>T c.47A>T c.2490A>T (p.Gly830=) c.387A>T (p.Gly129=) c.2829A>T (p.Gly943=) c.1149A>T (p.Gly383=) | |
X | g.108622723G>A | CA413852687 | COL4A5 | c.2815G>A (p.Glu939Lys) n.2271G>A c.48G>A c.2491G>A (p.Glu831Lys) c.388G>A (p.Glu130Lys) c.2830G>A (p.Glu944Lys) c.1150G>A (p.Glu384Lys) | |
X | g.108622723G>C | CA413852688 | COL4A5 | c.2815G>C (p.Glu939Gln) n.2271G>C c.48G>C c.2491G>C (p.Glu831Gln) c.388G>C (p.Glu130Gln) c.2830G>C (p.Glu944Gln) c.1150G>C (p.Glu384Gln) | |
X | g.108622723G= | CA2450696863 | COL4A5 | c.2815G= (p.Glu939=) n.2271G= c.48G= c.2491G= (p.Glu831=) c.388G= (p.Glu130=) c.2830G= (p.Glu944=) c.1150G= (p.Glu384=) | |
X | g.108622723G>T | CA413852690 | COL4A5 | c.2815G>T (p.Glu939Ter) n.2271G>T c.48G>T c.2491G>T (p.Glu831Ter) c.388G>T (p.Glu130Ter) c.2830G>T (p.Glu944Ter) c.1150G>T (p.Glu384Ter) | |
X | g.108622724A>C | CA413852693 | COL4A5 | c.2816A>C (p.Glu939Ala) n.2272A>C c.49A>C c.2492A>C (p.Glu831Ala) c.389A>C (p.Glu130Ala) c.2831A>C (p.Glu944Ala) c.1151A>C (p.Glu384Ala) | |
X | g.108622724A>G | CA413852694 | COL4A5 | c.2816A>G (p.Glu939Gly) n.2272A>G c.49A>G c.2492A>G (p.Glu831Gly) c.389A>G (p.Glu130Gly) c.2831A>G (p.Glu944Gly) c.1151A>G (p.Glu384Gly) | |
X | g.108622724A>T | CA413852695 | COL4A5 | c.2816A>T (p.Glu939Val) n.2272A>T c.49A>T c.2492A>T (p.Glu831Val) c.389A>T (p.Glu130Val) c.2831A>T (p.Glu944Val) c.1151A>T (p.Glu384Val) | |
X | g.108622725A>C | CA413852698 | COL4A5 | c.2817A>C (p.Glu939Asp) n.2273A>C c.50A>C c.2493A>C (p.Glu831Asp) c.390A>C (p.Glu130Asp) c.2832A>C (p.Glu944Asp) c.1152A>C (p.Glu384Asp) | |
X | g.108622725A>G | CA517924753 | COL4A5 | c.2817A>G (p.Glu939=) n.2273A>G c.50A>G c.2493A>G (p.Glu831=) c.390A>G (p.Glu130=) c.2832A>G (p.Glu944=) c.1152A>G (p.Glu384=) | |
X | g.108622725A>T | CA413852699 | COL4A5 | c.2817A>T (p.Glu939Asp) n.2273A>T c.50A>T c.2493A>T (p.Glu831Asp) c.390A>T (p.Glu130Asp) c.2832A>T (p.Glu944Asp) c.1152A>T (p.Glu384Asp) | |
X | g.108622726A>C | CA413852705 | COL4A5 | c.2818A>C (p.Lys940Gln) n.2274A>C c.51A>C c.2494A>C (p.Lys832Gln) c.391A>C (p.Lys131Gln) c.2833A>C (p.Lys945Gln) c.1153A>C (p.Lys385Gln) | |
X | g.108622726A>G | CA413852703 | COL4A5 | c.2818A>G (p.Lys940Glu) n.2274A>G c.51A>G c.2494A>G (p.Lys832Glu) c.391A>G (p.Lys131Glu) c.2833A>G (p.Lys945Glu) c.1153A>G (p.Lys385Glu) | |
X | g.108622726A>T | CA413852701 | COL4A5 | c.2818A>T (p.Lys940Ter) n.2274A>T c.51A>T c.2494A>T (p.Lys832Ter) c.391A>T (p.Lys131Ter) c.2833A>T (p.Lys945Ter) c.1153A>T (p.Lys385Ter) | |
X | g.108622727A>C | CA413852707 | COL4A5 | c.2819A>C (p.Lys940Thr) n.2275A>C c.52A>C c.2495A>C (p.Lys832Thr) c.392A>C (p.Lys131Thr) c.2834A>C (p.Lys945Thr) c.1154A>C (p.Lys385Thr) | |
X | g.108622727A>G | CA413852709 | COL4A5 | c.2819A>G (p.Lys940Arg) n.2275A>G c.52A>G c.2495A>G (p.Lys832Arg) c.392A>G (p.Lys131Arg) c.2834A>G (p.Lys945Arg) c.1154A>G (p.Lys385Arg) | |
X | g.108622727A>T | CA413852711 | COL4A5 | c.2819A>T (p.Lys940Ile) n.2275A>T c.52A>T c.2495A>T (p.Lys832Ile) c.392A>T (p.Lys131Ile) c.2834A>T (p.Lys945Ile) c.1154A>T (p.Lys385Ile) | |
X | g.108622728A= | CA2450696864 | COL4A5 | c.2820A= (p.Lys940=) n.2276A= c.53A= c.2496A= (p.Lys832=) c.393A= (p.Lys131=) c.2835A= (p.Lys945=) c.1155A= (p.Lys385=) | |
X | g.108622728A>C | CA413852714 | COL4A5 | c.2820A>C (p.Lys940Asn) n.2276A>C c.53A>C c.2496A>C (p.Lys832Asn) c.393A>C (p.Lys131Asn) c.2835A>C (p.Lys945Asn) c.1155A>C (p.Lys385Asn) | |
X | g.108622728A>G | CA517924754 | COL4A5 | c.2820A>G (p.Lys940=) n.2276A>G c.53A>G c.2496A>G (p.Lys832=) c.393A>G (p.Lys131=) c.2835A>G (p.Lys945=) c.1155A>G (p.Lys385=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108622728A>T | CA413852715 | COL4A5 | c.2820A>T (p.Lys940Asn) n.2276A>T c.53A>T c.2496A>T (p.Lys832Asn) c.393A>T (p.Lys131Asn) c.2835A>T (p.Lys945Asn) c.1155A>T (p.Lys385Asn) | |
X | g.108622729G>A | CA413852718 | COL4A5 | c.2821G>A (p.Gly941Ser) n.2277G>A c.54G>A c.2497G>A (p.Gly833Ser) c.394G>A (p.Gly132Ser) c.2836G>A (p.Gly946Ser) c.1156G>A (p.Gly386Ser) | |
X | g.108622729G>C | CA413852720 | COL4A5 | c.2821G>C (p.Gly941Arg) n.2277G>C c.54G>C c.2497G>C (p.Gly833Arg) c.394G>C (p.Gly132Arg) c.2836G>C (p.Gly946Arg) c.1156G>C (p.Gly386Arg) | ClinVar dbSNP |
X | g.108622729G= | CA2450696865 | COL4A5 | c.2821G= (p.Gly941=) n.2277G= c.54G= c.2497G= (p.Gly833=) c.394G= (p.Gly132=) c.2836G= (p.Gly946=) c.1156G= (p.Gly386=) | |
X | g.108622729G>T | CA258769 | COL4A5 | c.2821G>T (p.Gly941Cys) n.2277G>T c.54G>T c.2497G>T (p.Gly833Cys) c.394G>T (p.Gly132Cys) c.2836G>T (p.Gly946Cys) c.1156G>T (p.Gly386Cys) | ClinVar dbSNP COSMIC |
X | g.108622729_108622732delinsGGTA | CA2450696866 | COL4A5 | c.2821_2824delinsGGTA (p.Gly941=) n.2277_2280delinsGGTA c.54_57delinsGGTA c.2497_2500delinsGGTA (p.Gly833=) c.394_397delinsGGTA (p.Gly132=) c.2836_2839delinsGGTA (p.Gly946=) c.1156_1159delinsGGTA (p.Gly386=) | |
X | g.108622730G>A | CA413852723 | COL4A5 | c.2822G>A (p.Gly941Asp) n.2278G>A c.55G>A c.2498G>A (p.Gly833Asp) c.395G>A (p.Gly132Asp) c.2837G>A (p.Gly946Asp) c.1157G>A (p.Gly386Asp) | |
X | g.108622730G>C | CA413852725 | COL4A5 | c.2822G>C (p.Gly941Ala) n.2278G>C c.55G>C c.2498G>C (p.Gly833Ala) c.395G>C (p.Gly132Ala) c.2837G>C (p.Gly946Ala) c.1157G>C (p.Gly386Ala) | |
X | g.108622730G= | CA2450696867 | COL4A5 | c.2822G= (p.Gly941=) n.2278G= c.55G= c.2498G= (p.Gly833=) c.395G= (p.Gly132=) c.2837G= (p.Gly946=) c.1157G= (p.Gly386=) | |
X | g.108622730G>T | CA413852727 | COL4A5 | c.2822G>T (p.Gly941Val) n.2278G>T c.55G>T c.2498G>T (p.Gly833Val) c.395G>T (p.Gly132Val) c.2837G>T (p.Gly946Val) c.1157G>T (p.Gly386Val) | COSMIC COSMIC |
X | g.108622733_108622735del | CA258771 | COL4A5 | c.2825_2827del (p.Ser942del) n.2281_2283del c.58_60del c.2501_2503del (p.Ser834del) c.398_400del (p.Ser133del) c.2840_2842del (p.Ser947del) c.1160_1162del (p.Ser387del) | dbSNP |
X | g.108622731T>A | CA517924755 | COL4A5 | c.2823T>A (p.Gly941=) n.2279T>A c.56T>A c.2499T>A (p.Gly833=) c.396T>A (p.Gly132=) c.2838T>A (p.Gly946=) c.1158T>A (p.Gly386=) | |
X | g.108622731T>C | CA517924756 | COL4A5 | c.2823T>C (p.Gly941=) n.2279T>C c.56T>C c.2499T>C (p.Gly833=) c.396T>C (p.Gly132=) c.2838T>C (p.Gly946=) c.1158T>C (p.Gly386=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108622731T>G | CA517924757 | COL4A5 | c.2823T>G (p.Gly941=) n.2279T>G c.56T>G c.2499T>G (p.Gly833=) c.396T>G (p.Gly132=) c.2838T>G (p.Gly946=) c.1158T>G (p.Gly386=) | |
X | g.108622731T= | CA2450696868 | COL4A5 | c.2823T= (p.Gly941=) n.2279T= c.56T= c.2499T= (p.Gly833=) c.396T= (p.Gly132=) c.2838T= (p.Gly946=) c.1158T= (p.Gly386=) | |
X | g.108622732A>C | CA413852731 | COL4A5 | c.2824A>C (p.Ser942Arg) n.2280A>C c.57A>C c.2500A>C (p.Ser834Arg) c.397A>C (p.Ser133Arg) c.2839A>C (p.Ser947Arg) c.1159A>C (p.Ser387Arg) | |
X | g.108622732A>G | CA413852733 | COL4A5 | c.2824A>G (p.Ser942Gly) n.2280A>G c.57A>G c.2500A>G (p.Ser834Gly) c.397A>G (p.Ser133Gly) c.2839A>G (p.Ser947Gly) c.1159A>G (p.Ser387Gly) | gnomAD v4 |
X | g.108622732A>T | CA413852730 | COL4A5 | c.2824A>T (p.Ser942Cys) n.2280A>T c.57A>T c.2500A>T (p.Ser834Cys) c.397A>T (p.Ser133Cys) c.2839A>T (p.Ser947Cys) c.1159A>T (p.Ser387Cys) | |
X | g.108622733G>A | CA413852735 | COL4A5 | c.2825G>A (p.Ser942Asn) n.2281G>A c.58G>A c.2501G>A (p.Ser834Asn) c.398G>A (p.Ser133Asn) c.2840G>A (p.Ser947Asn) c.1160G>A (p.Ser387Asn) | |
X | g.108622733G>C | CA413852736 | COL4A5 | c.2825G>C (p.Ser942Thr) n.2281G>C c.58G>C c.2501G>C (p.Ser834Thr) c.398G>C (p.Ser133Thr) c.2840G>C (p.Ser947Thr) c.1160G>C (p.Ser387Thr) | |
X | g.108622733G>T | CA413852738 | COL4A5 | c.2825G>T (p.Ser942Ile) n.2281G>T c.58G>T c.2501G>T (p.Ser834Ile) c.398G>T (p.Ser133Ile) c.2840G>T (p.Ser947Ile) c.1160G>T (p.Ser387Ile) |