Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108575880_108575885delinsTCATCA | CA2450681456 | COL4A5 | c.547-30_547-25delinsTCATCA (n.547-30_547-25delinsTCATCA) c.223-30_223-25delinsTCATCA (n.223-30_223-25delinsTCATCA) c.562-30_562-25delinsTCATCA (n.562-30_562-25delinsTCATCA) | |
X | g.108575881_108575885del | CA10488502 | COL4A5 | c.547-29_547-25del (n.547-29_547-25del) c.223-29_223-25del (n.223-29_223-25del) c.562-29_562-25del (n.562-29_562-25del) | dbSNP ExAC gnomAD v2 |
X | g.108575882_108575885del | CA2538526686 | COL4A5 | c.547-28_547-25del (n.547-28_547-25del) c.223-28_223-25del (n.223-28_223-25del) c.562-28_562-25del (n.562-28_562-25del) | |
X | g.108575883T>C | CA2579675901 | COL4A5 | c.547-27T>C (n.547-27T>C) c.223-27T>C (n.223-27T>C) c.562-27T>C (n.562-27T>C) | gnomAD v4 |
X | g.108575883_108575885delinsTCA | CA2450681459 | COL4A5 | c.547-27_547-25delinsTCA (n.547-27_547-25delinsTCA) c.223-27_223-25delinsTCA (n.223-27_223-25delinsTCA) c.562-27_562-25delinsTCA (n.562-27_562-25delinsTCA) | |
X | g.108575884C>A | CA2694411429 | COL4A5 | c.547-26C>A (n.547-26C>A) c.223-26C>A (n.223-26C>A) c.562-26C>A (n.562-26C>A) | gnomAD v4 |
X | g.108575884C= | CA2450681460 | COL4A5 | c.547-26C= (n.547-26C=) c.223-26C= (n.223-26C=) c.562-26C= (n.562-26C=) | |
X | g.108575884C>T | CA10488507 | COL4A5 | c.547-26C>T (n.547-26C>T) c.223-26C>T (n.223-26C>T) c.562-26C>T (n.562-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575884_108575885del | CA10488506 | COL4A5 | c.547-26_547-25del (n.547-26_547-25del) c.223-26_223-25del (n.223-26_223-25del) c.562-26_562-25del (n.562-26_562-25del) | dbSNP ExAC |
X | g.108575885A= | CA2450681461 | COL4A5 | c.547-25A= (n.547-25A=) c.223-25A= (n.223-25A=) c.562-25A= (n.562-25A=) | |
X | g.108575885A>G | CA2694411432 | COL4A5 | c.547-25A>G (n.547-25A>G) c.223-25A>G (n.223-25A>G) c.562-25A>G (n.562-25A>G) | gnomAD v4 |
X | g.108575885A>T | CA10488508 | COL4A5 | c.547-25A>T (n.547-25A>T) c.223-25A>T (n.223-25A>T) c.562-25A>T (n.562-25A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575889dup | CA2694411435 | COL4A5 | c.547-21dup (n.547-21dup) c.223-21dup (n.223-21dup) c.562-21dup (n.562-21dup) | gnomAD v4 |
X | g.108575889del | CA2694411436 | COL4A5 | c.547-21del (n.547-21del) c.223-21del (n.223-21del) c.562-21del (n.562-21del) | gnomAD v4 |
X | g.108575887T>C | CA1136177981 | COL4A5 | c.547-23T>C (n.547-23T>C) c.223-23T>C (n.223-23T>C) c.562-23T>C (n.562-23T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575887T= | CA2450681462 | COL4A5 | c.547-23T= (n.547-23T=) c.223-23T= (n.223-23T=) c.562-23T= (n.562-23T=) | |
X | g.108575888T>C | CA2694411437 | COL4A5 | c.547-22T>C (n.547-22T>C) c.223-22T>C (n.223-22T>C) c.562-22T>C (n.562-22T>C) | gnomAD v4 |
X | g.108575888T>G | CA2450681464 | COL4A5 | c.547-22T>G (n.547-22T>G) c.223-22T>G (n.223-22T>G) c.562-22T>G (n.562-22T>G) | dbSNP |
X | g.108575888T= | CA2450681463 | COL4A5 | c.547-22T= (n.547-22T=) c.223-22T= (n.223-22T=) c.562-22T= (n.562-22T=) | |
X | g.108575889_108575890delinsTC | CA2450681465 | COL4A5 | c.547-21_547-20delinsTC (n.547-21_547-20delinsTC) c.223-21_223-20delinsTC (n.223-21_223-20delinsTC) c.562-21_562-20delinsTC (n.562-21_562-20delinsTC) | |
X | g.108575890del | CA2450681466 | COL4A5 | c.547-20del (n.547-20del) c.223-20del (n.223-20del) c.562-20del (n.562-20del) | dbSNP |
X | g.108575890C>A | CA2694411438 | COL4A5 | c.547-20C>A (n.547-20C>A) c.223-20C>A (n.223-20C>A) c.562-20C>A (n.562-20C>A) | gnomAD v4 |
X | g.108575890C= | CA2450681467 | COL4A5 | c.547-20C= (n.547-20C=) c.223-20C= (n.223-20C=) c.562-20C= (n.562-20C=) | |
X | g.108575890C>G | CA2450681468 | COL4A5 | c.547-20C>G (n.547-20C>G) c.223-20C>G (n.223-20C>G) c.562-20C>G (n.562-20C>G) | dbSNP |
X | g.108575890C>T | CA10488509 | COL4A5 | c.547-20C>T (n.547-20C>T) c.223-20C>T (n.223-20C>T) c.562-20C>T (n.562-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575891T>C | CA2694411439 | COL4A5 | c.547-19T>C (n.547-19T>C) c.223-19T>C (n.223-19T>C) c.562-19T>C (n.562-19T>C) | gnomAD v4 |
X | g.108575892T>C | CA2694411441 | COL4A5 | c.547-18T>C (n.547-18T>C) c.223-18T>C (n.223-18T>C) c.562-18T>C (n.562-18T>C) | gnomAD v4 |
X | g.108575892T>G | CA2694411442 | COL4A5 | c.547-18T>G (n.547-18T>G) c.223-18T>G (n.223-18T>G) c.562-18T>G (n.562-18T>G) | gnomAD v4 |
X | g.108575893T>C | CA2694411443 | COL4A5 | c.547-17T>C (n.547-17T>C) c.223-17T>C (n.223-17T>C) c.562-17T>C (n.562-17T>C) | gnomAD v4 |
X | g.108575894A>G | CA2694411444 | COL4A5 | c.547-16A>G (n.547-16A>G) c.223-16A>G (n.223-16A>G) c.562-16A>G (n.562-16A>G) | gnomAD v4 |
X | g.108575894A>T | CA2579675902 | COL4A5 | c.547-16A>T (n.547-16A>T) c.223-16A>T (n.223-16A>T) c.562-16A>T (n.562-16A>T) | gnomAD v4 |
X | g.108575895C>A | CA2694411446 | COL4A5 | c.547-15C>A (n.547-15C>A) c.223-15C>A (n.223-15C>A) c.562-15C>A (n.562-15C>A) | gnomAD v4 |
X | g.108575895C= | CA2450681469 | COL4A5 | c.547-15C= (n.547-15C=) c.223-15C= (n.223-15C=) c.562-15C= (n.562-15C=) | |
X | g.108575895C>T | CA643749771 | COL4A5 | c.547-15C>T (n.547-15C>T) c.223-15C>T (n.223-15C>T) c.562-15C>T (n.562-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575896T>C | CA2694411449 | COL4A5 | c.547-14T>C (n.547-14T>C) c.223-14T>C (n.223-14T>C) c.562-14T>C (n.562-14T>C) | gnomAD v4 |
X | g.108575897C>A | CA2694411450 | COL4A5 | c.547-13C>A (n.547-13C>A) c.223-13C>A (n.223-13C>A) c.562-13C>A (n.562-13C>A) | gnomAD v4 |
X | g.108575897C>T | CA2504827004 | COL4A5 | c.547-13C>T (n.547-13C>T) c.223-13C>T (n.223-13C>T) c.562-13C>T (n.562-13C>T) | gnomAD v4 |
X | g.108575898A>G | CA2694411451 | COL4A5 | c.547-12A>G (n.547-12A>G) c.223-12A>G (n.223-12A>G) c.562-12A>G (n.562-12A>G) | gnomAD v4 |
X | g.108575898A>T | CA2553197837 | COL4A5 | c.547-12A>T (n.547-12A>T) c.223-12A>T (n.223-12A>T) c.562-12A>T (n.562-12A>T) | |
X | g.108575899C>A | CA643749772 | COL4A5 | c.547-11C>A (n.547-11C>A) c.223-11C>A (n.223-11C>A) c.562-11C>A (n.562-11C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575899C= | CA2450681470 | COL4A5 | c.547-11C= (n.547-11C=) c.223-11C= (n.223-11C=) c.562-11C= (n.562-11C=) | |
X | g.108575899C>G | CA2573055061 | COL4A5 | c.547-11C>G (n.547-11C>G) c.223-11C>G (n.223-11C>G) c.562-11C>G (n.562-11C>G) | ClinVar dbSNP |
X | g.108575899C>T | CA2694411456 | COL4A5 | c.547-11C>T (n.547-11C>T) c.223-11C>T (n.223-11C>T) c.562-11C>T (n.562-11C>T) | gnomAD v4 |
X | g.108575900T>C | CA2694411462 | COL4A5 | c.547-10T>C (n.547-10T>C) c.223-10T>C (n.223-10T>C) c.562-10T>C (n.562-10T>C) | gnomAD v4 |
X | g.108575900T>G | CA2579675903 | COL4A5 | c.547-10T>G (n.547-10T>G) c.223-10T>G (n.223-10T>G) c.562-10T>G (n.562-10T>G) | |
X | g.108575902del | CA2694411461 | COL4A5 | c.547-8del (n.547-8del) c.223-8del (n.223-8del) c.562-8del (n.562-8del) | gnomAD v4 |
X | g.108575901T>A | CA2694411463 | COL4A5 | c.547-9T>A (n.547-9T>A) c.223-9T>A (n.223-9T>A) c.562-9T>A (n.562-9T>A) | gnomAD v4 |
X | g.108575901T>C | CA2694411464 | COL4A5 | c.547-9T>C (n.547-9T>C) c.223-9T>C (n.223-9T>C) c.562-9T>C (n.562-9T>C) | gnomAD v4 |
X | g.108575903A>T | CA2694411465 | COL4A5 | c.547-7A>T (n.547-7A>T) c.223-7A>T (n.223-7A>T) c.562-7A>T (n.562-7A>T) | gnomAD v4 |
X | g.108575906del | CA2694411466 | COL4A5 | c.547-4del (n.547-4del) c.223-4del (n.223-4del) c.562-4del (n.562-4del) | gnomAD v4 |
X | g.108575906A>G | CA2694411468 | COL4A5 | c.547-4A>G (n.547-4A>G) c.223-4A>G (n.223-4A>G) c.562-4A>G (n.562-4A>G) | gnomAD v4 |
X | g.108575907C>A | CA891843909 | COL4A5 | c.547-3C>A (n.547-3C>A) c.223-3C>A (n.223-3C>A) c.562-3C>A (n.562-3C>A) | gnomAD v4 |
X | g.108575907C= | CA2450681471 | COL4A5 | c.547-3C= (n.547-3C=) c.223-3C= (n.223-3C=) c.562-3C= (n.562-3C=) | |
X | g.108575907C>G | CA2695235181 | COL4A5 | c.547-3C>G (n.547-3C>G) c.223-3C>G (n.223-3C>G) c.562-3C>G (n.562-3C>G) | |
X | g.108575907C>T | CA2450681472 | COL4A5 | c.547-3C>T (n.547-3C>T) c.223-3C>T (n.223-3C>T) c.562-3C>T (n.562-3C>T) | dbSNP gnomAD v4 |
X | g.108575908A= | CA2450681473 | COL4A5 | c.547-2A= (n.547-2A=) c.223-2A= (n.223-2A=) c.562-2A= (n.562-2A=) | |
X | g.108575908A>C | CA413921822 | COL4A5 | c.547-2A>C (n.547-2A>C) c.223-2A>C (n.223-2A>C) c.562-2A>C (n.562-2A>C) | |
X | g.108575908A>G | CA258267 | COL4A5 | c.547-2A>G (n.547-2A>G) c.223-2A>G (n.223-2A>G) c.562-2A>G (n.562-2A>G) | dbSNP gnomAD v4 |
X | g.108575908A>T | CA413921861 | COL4A5 | c.547-2A>T (n.547-2A>T) c.223-2A>T (n.223-2A>T) c.562-2A>T (n.562-2A>T) | |
X | g.108575909G>A | CA258268 | COL4A5 | c.547-1G>A (n.547-1G>A) c.223-1G>A (n.223-1G>A) c.562-1G>A (n.562-1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108575909G>C | CA413921869 | COL4A5 | c.547-1G>C (n.547-1G>C) c.223-1G>C (n.223-1G>C) c.562-1G>C (n.562-1G>C) | |
X | g.108575909G= | CA2450681474 | COL4A5 | c.547-1G= (n.547-1G=) c.223-1G= (n.223-1G=) c.562-1G= (n.562-1G=) | |
X | g.108575909G>T | CA413921868 | COL4A5 | c.547-1G>T (n.547-1G>T) c.223-1G>T (n.223-1G>T) c.562-1G>T (n.562-1G>T) | gnomAD v4 |
X | g.108575911dup | CA258269 | COL4A5 | c.548dup c.224dup c.563dup | dbSNP |
X | g.108575911del | CA2694411477 | COL4A5 | c.548del c.224del c.563del | gnomAD v4 |
X | g.108575910G>A | CA413921871 | COL4A5 | c.547G>A (p.Gly183Ser) c.223G>A (p.Gly75Ser) c.562G>A (p.Gly188Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108575910G>C | CA413921872 | COL4A5 | c.547G>C (p.Gly183Arg) c.223G>C (p.Gly75Arg) c.562G>C (p.Gly188Arg) | |
X | g.108575910G= | CA2450681475 | COL4A5 | c.547G= (p.Gly183=) c.223G= (p.Gly75=) c.562G= (p.Gly188=) | |
X | g.108575910G>T | CA413921876 | COL4A5 | c.547G>T (p.Gly183Cys) c.223G>T (p.Gly75Cys) c.562G>T (p.Gly188Cys) | gnomAD v4 |
X | g.108575910_108575911insC | CA334179897 | COL4A5 | c.547_548insC (p.Gly183AlafsTer?) c.223_224insC (p.Gly75AlafsTer?) c.562_563insC (p.Gly188AlafsTer?) | dbSNP |
X | g.108575911G>A | CA413921892 | COL4A5 | c.548G>A (p.Gly183Asp) c.224G>A (p.Gly75Asp) c.563G>A (p.Gly188Asp) | ClinVar dbSNP gnomAD v4 |
X | g.108575911G>C | CA413921893 | COL4A5 | c.548G>C (p.Gly183Ala) c.224G>C (p.Gly75Ala) c.563G>C (p.Gly188Ala) | |
X | g.108575911G= | CA2450681476 | COL4A5 | c.548G= (p.Gly183=) c.224G= (p.Gly75=) c.563G= (p.Gly188=) | |
X | g.108575911G>T | CA258270 | COL4A5 | c.548G>T (p.Gly183Val) c.224G>T (p.Gly75Val) c.563G>T (p.Gly188Val) | dbSNP gnomAD v4 |
X | g.108575912C>A | CA517991655 | COL4A5 | c.549C>A (p.Gly183=) c.225C>A (p.Gly75=) c.564C>A (p.Gly188=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108575912C= | CA2450681477 | COL4A5 | c.549C= (p.Gly183=) c.225C= (p.Gly75=) c.564C= (p.Gly188=) | |
X | g.108575912C>G | CA517991656 | COL4A5 | c.549C>G (p.Gly183=) c.225C>G (p.Gly75=) c.564C>G (p.Gly188=) | |
X | g.108575912C>T | CA517991657 | COL4A5 | c.549C>T (p.Gly183=) c.225C>T (p.Gly75=) c.564C>T (p.Gly188=) | gnomAD v4 COSMIC COSMIC |
X | g.108575913dup | CA258273 | COL4A5 | c.550dup (p.Leu184ProfsTer?) c.226dup (p.Leu76ProfsTer?) c.565dup (p.Leu189ProfsTer?) | dbSNP |
X | g.108575913C>A | CA413921901 | COL4A5 | c.550C>A (p.Leu184Ile) c.226C>A (p.Leu76Ile) c.565C>A (p.Leu189Ile) | gnomAD v4 |
X | g.108575913C>G | CA413921903 | COL4A5 | c.550C>G (p.Leu184Val) c.226C>G (p.Leu76Val) c.565C>G (p.Leu189Val) | |
X | g.108575913C>T | CA517991658 | COL4A5 | c.550C>T (p.Leu184=) c.226C>T (p.Leu76=) c.565C>T (p.Leu189=) | ClinVar gnomAD v4 |
X | g.108575914T>A | CA413921910 | COL4A5 | c.551T>A (p.Leu184Gln) c.227T>A (p.Leu76Gln) c.566T>A (p.Leu189Gln) | gnomAD v4 |
X | g.108575914T>C | CA413921918 | COL4A5 | c.551T>C (p.Leu184Pro) c.227T>C (p.Leu76Pro) c.566T>C (p.Leu189Pro) | gnomAD v4 |
X | g.108575914T>G | CA413921922 | COL4A5 | c.551T>G (p.Leu184Arg) c.227T>G (p.Leu76Arg) c.566T>G (p.Leu189Arg) | gnomAD v4 |
X | g.108575915del | CA2579675904 | COL4A5 | c.552del (p.Pro185LeufsTer18) c.228del (p.Pro77LeufsTer18) c.567del (p.Pro190LeufsTer18) | |
X | g.108575915A>C | CA517991659 | COL4A5 | c.552A>C (p.Leu184=) c.228A>C (p.Leu76=) c.567A>C (p.Leu189=) | |
X | g.108575915A>G | CA517991660 | COL4A5 | c.552A>G (p.Leu184=) c.228A>G (p.Leu76=) c.567A>G (p.Leu189=) | gnomAD v4 |
X | g.108575915A>T | CA517991661 | COL4A5 | c.552A>T (p.Leu184=) c.228A>T (p.Leu76=) c.567A>T (p.Leu189=) | ClinVar dbSNP gnomAD v4 |
X | g.108575916C>A | CA413921925 | COL4A5 | c.553C>A (p.Pro185Thr) c.229C>A (p.Pro77Thr) c.568C>A (p.Pro190Thr) | gnomAD v4 |
X | g.108575916C>G | CA413921923 | COL4A5 | c.553C>G (p.Pro185Ala) c.229C>G (p.Pro77Ala) c.568C>G (p.Pro190Ala) | |
X | g.108575916C>T | CA413921924 | COL4A5 | c.553C>T (p.Pro185Ser) c.229C>T (p.Pro77Ser) c.568C>T (p.Pro190Ser) | gnomAD v4 |
X | g.108575917C>A | CA413921930 | COL4A5 | c.554C>A (p.Pro185His) c.230C>A (p.Pro77His) c.569C>A (p.Pro190His) | gnomAD v4 |
X | g.108575917C= | CA2450681478 | COL4A5 | c.554C= (p.Pro185=) c.230C= (p.Pro77=) c.569C= (p.Pro190=) | |
X | g.108575917C>G | CA413921937 | COL4A5 | c.554C>G (p.Pro185Arg) c.230C>G (p.Pro77Arg) c.569C>G (p.Pro190Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108575917C>T | CA413921942 | COL4A5 | c.554C>T (p.Pro185Leu) c.230C>T (p.Pro77Leu) c.569C>T (p.Pro190Leu) | gnomAD v4 |
X | g.108575918T>A | CA517991662 | COL4A5 | c.555T>A (p.Pro185=) c.231T>A (p.Pro77=) c.570T>A (p.Pro190=) | |
X | g.108575918T>C | CA517991663 | COL4A5 | c.555T>C (p.Pro185=) c.231T>C (p.Pro77=) c.570T>C (p.Pro190=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108575918T>G | CA517991664 | COL4A5 | c.555T>G (p.Pro185=) c.231T>G (p.Pro77=) c.570T>G (p.Pro190=) | |
X | g.108575918T= | CA2450681479 | COL4A5 | c.555T= (p.Pro185=) c.231T= (p.Pro77=) c.570T= (p.Pro190=) | |
X | g.108575919G>A | CA413921949 | COL4A5 | c.556G>A (p.Gly186Ser) c.232G>A (p.Gly78Ser) c.571G>A (p.Gly191Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108575919G>C | CA413921951 | COL4A5 | c.556G>C (p.Gly186Arg) c.232G>C (p.Gly78Arg) c.571G>C (p.Gly191Arg) | |
X | g.108575919G= | CA2450681480 | COL4A5 | c.556G= (p.Gly186=) c.232G= (p.Gly78=) c.571G= (p.Gly191=) | |
X | g.108575919G>T | CA413921953 | COL4A5 | c.556G>T (p.Gly186Cys) c.232G>T (p.Gly78Cys) c.571G>T (p.Gly191Cys) | |
X | g.108575920del | CA2579675905 | COL4A5 | c.557del (p.Gly186ValfsTer17) c.233del (p.Gly78ValfsTer17) c.572del (p.Gly191ValfsTer17) | gnomAD v4 |
X | g.108575920G>A | CA413921954 | COL4A5 | c.557G>A (p.Gly186Asp) c.233G>A (p.Gly78Asp) c.572G>A (p.Gly191Asp) | ClinVar dbSNP gnomAD v4 |
X | g.108575920G>C | CA413921956 | COL4A5 | c.557G>C (p.Gly186Ala) c.233G>C (p.Gly78Ala) c.572G>C (p.Gly191Ala) | |
X | g.108575920G>T | CA413921960 | COL4A5 | c.557G>T (p.Gly186Val) c.233G>T (p.Gly78Val) c.572G>T (p.Gly191Val) | gnomAD v4 |
X | g.108575921T>A | CA517991665 | COL4A5 | c.558T>A (p.Gly186=) c.234T>A (p.Gly78=) c.573T>A (p.Gly191=) | |
X | g.108575921T>C | CA517991666 | COL4A5 | c.558T>C (p.Gly186=) c.234T>C (p.Gly78=) c.573T>C (p.Gly191=) | gnomAD v4 |
X | g.108575921T>G | CA517991667 | COL4A5 | c.558T>G (p.Gly186=) c.234T>G (p.Gly78=) c.573T>G (p.Gly191=) | gnomAD v4 |
X | g.108575921T= | CA2450681481 | COL4A5 | c.558T= (p.Gly186=) c.234T= (p.Gly78=) c.573T= (p.Gly191=) | |
X | g.108575922C>A | CA413921964 | COL4A5 | c.559C>A (p.Pro187Thr) c.235C>A (p.Pro79Thr) c.574C>A (p.Pro192Thr) | gnomAD v3 gnomAD v4 |
X | g.108575922C>G | CA413921966 | COL4A5 | c.559C>G (p.Pro187Ala) c.235C>G (p.Pro79Ala) c.574C>G (p.Pro192Ala) | |
X | g.108575922C>T | CA413921968 | COL4A5 | c.559C>T (p.Pro187Ser) c.235C>T (p.Pro79Ser) c.574C>T (p.Pro192Ser) | |
X | g.108575923_108575924dup | CA891843910 | COL4A5 | c.560_561dup (p.Thr188ProfsTer16) c.236_237dup (p.Thr80ProfsTer16) c.575_576dup (p.Thr193ProfsTer16) | |
X | g.108575924del | CA2694411544 | COL4A5 | c.561del (p.Thr188LeufsTer15) c.237del (p.Thr80LeufsTer15) c.576del (p.Thr193LeufsTer15) | gnomAD v4 |
X | g.108575923C>A | CA413921995 | COL4A5 | c.560C>A (p.Pro187His) c.236C>A (p.Pro79His) c.575C>A (p.Pro192His) | gnomAD v4 |
X | g.108575923C>G | CA413921988 | COL4A5 | c.560C>G (p.Pro187Arg) c.236C>G (p.Pro79Arg) c.575C>G (p.Pro192Arg) | |
X | g.108575923C>T | CA413921970 | COL4A5 | c.560C>T (p.Pro187Leu) c.236C>T (p.Pro79Leu) c.575C>T (p.Pro192Leu) | gnomAD v4 |
X | g.108575927_108575961del | CA2580100156 | COL4A5 | c.564_598del (p.Gly189ArgfsTer15) c.240_274del (p.Gly81ArgfsTer15) c.579_613del (p.Gly194ArgfsTer15) | ClinVar |
X | g.108575924C>A | CA517991670 | COL4A5 | c.561C>A (p.Pro187=) c.237C>A (p.Pro79=) c.576C>A (p.Pro192=) | gnomAD v4 |
X | g.108575924C>G | CA517991668 | COL4A5 | c.561C>G (p.Pro187=) c.237C>G (p.Pro79=) c.576C>G (p.Pro192=) | |
X | g.108575924C>T | CA517991669 | COL4A5 | c.561C>T (p.Pro187=) c.237C>T (p.Pro79=) c.576C>T (p.Pro192=) | |
X | g.108575925A>C | CA413922000 | COL4A5 | c.562A>C (p.Thr188Pro) c.238A>C (p.Thr80Pro) c.577A>C (p.Thr193Pro) | |
X | g.108575925A>G | CA413922005 | COL4A5 | c.562A>G (p.Thr188Ala) c.238A>G (p.Thr80Ala) c.577A>G (p.Thr193Ala) | |
X | g.108575925A>T | CA413922002 | COL4A5 | c.562A>T (p.Thr188Ser) c.238A>T (p.Thr80Ser) c.577A>T (p.Thr193Ser) | gnomAD v4 |
X | g.108575926C>A | CA413922008 | COL4A5 | c.563C>A (p.Thr188Asn) c.239C>A (p.Thr80Asn) c.578C>A (p.Thr193Asn) | gnomAD v4 |
X | g.108575926C>G | CA413922015 | COL4A5 | c.563C>G (p.Thr188Ser) c.239C>G (p.Thr80Ser) c.578C>G (p.Thr193Ser) | |
X | g.108575926C>T | CA413922025 | COL4A5 | c.563C>T (p.Thr188Ile) c.239C>T (p.Thr80Ile) c.578C>T (p.Thr193Ile) | gnomAD v4 |
X | g.108575927T>A | CA517991671 | COL4A5 | c.564T>A (p.Thr188=) c.240T>A (p.Thr80=) c.579T>A (p.Thr193=) | gnomAD v4 |
X | g.108575927T>C | CA517991672 | COL4A5 | c.564T>C (p.Thr188=) c.240T>C (p.Thr80=) c.579T>C (p.Thr193=) | gnomAD v4 |
X | g.108575927T>G | CA517991673 | COL4A5 | c.564T>G (p.Thr188=) c.240T>G (p.Thr80=) c.579T>G (p.Thr193=) | |
X | g.108575928G>A | CA413922029 | COL4A5 | c.565G>A (p.Gly189Ser) c.241G>A (p.Gly81Ser) c.580G>A (p.Gly194Ser) | |
X | g.108575928G>C | CA413922050 | COL4A5 | c.565G>C (p.Gly189Arg) c.241G>C (p.Gly81Arg) c.580G>C (p.Gly194Arg) | |
X | g.108575928G>T | CA413922051 | COL4A5 | c.565G>T (p.Gly189Cys) c.241G>T (p.Gly81Cys) c.580G>T (p.Gly194Cys) | gnomAD v4 |
X | g.108575929del | CA2694411558 | COL4A5 | c.566del (p.Gly189ValfsTer14) c.242del (p.Gly81ValfsTer14) c.581del (p.Gly194ValfsTer14) | gnomAD v4 |
X | g.108575929G>A | CA413922053 | COL4A5 | c.566G>A (p.Gly189Asp) c.242G>A (p.Gly81Asp) c.581G>A (p.Gly194Asp) | gnomAD v4 |
X | g.108575929G>C | CA413922055 | COL4A5 | c.566G>C (p.Gly189Ala) c.242G>C (p.Gly81Ala) c.581G>C (p.Gly194Ala) | |
X | g.108575929G>T | CA413922057 | COL4A5 | c.566G>T (p.Gly189Val) c.242G>T (p.Gly81Val) c.581G>T (p.Gly194Val) | gnomAD v4 |
X | g.108575929_108575931delinsGTA | CA2450681482 | COL4A5 | c.566_568delinsGTA (p.Gly189=) c.242_244delinsGTA (p.Gly81=) c.581_583delinsGTA (p.Gly194=) | |
X | g.108575930T>A | CA517991676 | COL4A5 | c.567T>A (p.Gly189=) c.243T>A (p.Gly81=) c.582T>A (p.Gly194=) | |
X | g.108575930T>C | CA517991674 | COL4A5 | c.567T>C (p.Gly189=) c.243T>C (p.Gly81=) c.582T>C (p.Gly194=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575930T>G | CA517991675 | COL4A5 | c.567T>G (p.Gly189=) c.243T>G (p.Gly81=) c.582T>G (p.Gly194=) | |
X | g.108575930T= | CA2450681483 | COL4A5 | c.567T= (p.Gly189=) c.243T= (p.Gly81=) c.582T= (p.Gly194=) | |
X | g.108575930dup | CA2695235182 | COL4A5 | c.567dup (p.Ile190TyrfsTer26) c.243dup (p.Ile82TyrfsTer26) c.582dup (p.Ile195TyrfsTer26) | |
X | g.108575932_108575933del | CA658799834 | COL4A5 | c.569_570del (p.Ile190ThrfsTer25) c.245_246del (p.Ile82ThrfsTer25) c.584_585del (p.Ile195ThrfsTer25) | ClinVar dbSNP |
X | g.108575931A= | CA2450681484 | COL4A5 | c.568A= (p.Ile190=) c.244A= (p.Ile82=) c.583A= (p.Ile195=) | |
X | g.108575931A>C | CA413922061 | COL4A5 | c.568A>C (p.Ile190Leu) c.244A>C (p.Ile82Leu) c.583A>C (p.Ile195Leu) | |
X | g.108575931A>G | CA10488510 | COL4A5 | c.568A>G (p.Ile190Val) c.244A>G (p.Ile82Val) c.583A>G (p.Ile195Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575931A>T | CA413922074 | COL4A5 | c.568A>T (p.Ile190Leu) c.244A>T (p.Ile82Leu) c.583A>T (p.Ile195Leu) | |
X | g.108575932T>A | CA413922107 | COL4A5 | c.569T>A (p.Ile190Lys) c.245T>A (p.Ile82Lys) c.584T>A (p.Ile195Lys) | |
X | g.108575932T>C | CA413922090 | COL4A5 | c.569T>C (p.Ile190Thr) c.245T>C (p.Ile82Thr) c.584T>C (p.Ile195Thr) | |
X | g.108575932T>G | CA413922102 | COL4A5 | c.569T>G (p.Ile190Arg) c.245T>G (p.Ile82Arg) c.584T>G (p.Ile195Arg) | |
X | g.108575933A>C | CA517991677 | COL4A5 | c.570A>C (p.Ile190=) c.246A>C (p.Ile82=) c.585A>C (p.Ile195=) | |
X | g.108575933A>G | CA413922121 | COL4A5 | c.570A>G (p.Ile190Met) c.246A>G (p.Ile82Met) c.585A>G (p.Ile195Met) | gnomAD v4 |
X | g.108575933A>T | CA517991678 | COL4A5 | c.570A>T (p.Ile190=) c.246A>T (p.Ile82=) c.585A>T (p.Ile195=) | ClinVar dbSNP |
X | g.108575934C>A | CA413922133 | COL4A5 | c.571C>A (p.Pro191Thr) c.247C>A (p.Pro83Thr) c.586C>A (p.Pro196Thr) | |
X | g.108575934C>G | CA413922139 | COL4A5 | c.571C>G (p.Pro191Ala) c.247C>G (p.Pro83Ala) c.586C>G (p.Pro196Ala) | |
X | g.108575934C>T | CA413922143 | COL4A5 | c.571C>T (p.Pro191Ser) c.247C>T (p.Pro83Ser) c.586C>T (p.Pro196Ser) | gnomAD v4 |
X | g.108575934_108575946delinsCCAGGGCCAATTG | CA2450681485 | COL4A5 | c.571_583delinsCCAGGGCCAATTG (p.Pro191=) c.247_259delinsCCAGGGCCAATTG (p.Pro83=) c.586_598delinsCCAGGGCCAATTG (p.Pro196=) | |
X | g.108575935C>A | CA334179902 | COL4A5 | c.572C>A (p.Pro191Gln) c.248C>A (p.Pro83Gln) c.587C>A (p.Pro196Gln) | dbSNP gnomAD v4 |
X | g.108575935C= | CA2450681486 | COL4A5 | c.572C= (p.Pro191=) c.248C= (p.Pro83=) c.587C= (p.Pro196=) | |
X | g.108575935C>G | CA413922155 | COL4A5 | c.572C>G (p.Pro191Arg) c.248C>G (p.Pro83Arg) c.587C>G (p.Pro196Arg) | |
X | g.108575935C>T | CA413922160 | COL4A5 | c.572C>T (p.Pro191Leu) c.248C>T (p.Pro83Leu) c.587C>T (p.Pro196Leu) | gnomAD v4 |
X | g.108575935_108575946del | CA891863003 | COL4A5 | c.572_583del (p.Pro191_Gly195delinsArg) c.248_259del (p.Pro83_Gly87delinsArg) c.587_598del (p.Pro196_Gly200delinsArg) | ClinVar dbSNP |
X | g.108575936A>C | CA517991679 | COL4A5 | c.573A>C (p.Pro191=) c.249A>C (p.Pro83=) c.588A>C (p.Pro196=) | |
X | g.108575936A>G | CA517991680 | COL4A5 | c.573A>G (p.Pro191=) c.249A>G (p.Pro83=) c.588A>G (p.Pro196=) | |
X | g.108575936A>T | CA517991681 | COL4A5 | c.573A>T (p.Pro191=) c.249A>T (p.Pro83=) c.588A>T (p.Pro196=) | |
X | g.108575936_108575937dup | CA261043 | COL4A5 | c.573_574dup (p.Gly192GlufsTer12) c.249_250dup (p.Gly84GlufsTer12) c.588_589dup (p.Gly197GlufsTer12) | dbSNP |
X | g.108575937G>A | CA258274 | COL4A5 | c.574G>A (p.Gly192Arg) c.250G>A (p.Gly84Arg) c.589G>A (p.Gly197Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108575937G>C | CA413922168 | COL4A5 | c.574G>C (p.Gly192Arg) c.250G>C (p.Gly84Arg) c.589G>C (p.Gly197Arg) | |
X | g.108575937G= | CA2450681487 | COL4A5 | c.574G= (p.Gly192=) c.250G= (p.Gly84=) c.589G= (p.Gly197=) | |
X | g.108575937G>T | CA413922187 | COL4A5 | c.574G>T (p.Gly192Trp) c.250G>T (p.Gly84Trp) c.589G>T (p.Gly197Trp) | ClinVar dbSNP gnomAD v4 |
X | g.108575939dup | CA2695235183 | COL4A5 | c.576dup (p.Pro193AlafsTer23) c.252dup (p.Pro85AlafsTer23) c.591dup (p.Pro198AlafsTer23) | |
X | g.108575938G>A | CA413922225 | COL4A5 | c.575G>A (p.Gly192Glu) c.251G>A (p.Gly84Glu) c.590G>A (p.Gly197Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108575938G>C | CA413922195 | COL4A5 | c.575G>C (p.Gly192Ala) c.251G>C (p.Gly84Ala) c.590G>C (p.Gly197Ala) | |
X | g.108575938G>T | CA413922192 | COL4A5 | c.575G>T (p.Gly192Val) c.251G>T (p.Gly84Val) c.590G>T (p.Gly197Val) | gnomAD v4 |
X | g.108575939G>A | CA517991682 | COL4A5 | c.576G>A (p.Gly192=) c.252G>A (p.Gly84=) c.591G>A (p.Gly197=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575939G>C | CA517991683 | COL4A5 | c.576G>C (p.Gly192=) c.252G>C (p.Gly84=) c.591G>C (p.Gly197=) | |
X | g.108575939G= | CA2450681488 | COL4A5 | c.576G= (p.Gly192=) c.252G= (p.Gly84=) c.591G= (p.Gly197=) | |
X | g.108575939G>T | CA517991684 | COL4A5 | c.576G>T (p.Gly192=) c.252G>T (p.Gly84=) c.591G>T (p.Gly197=) | |
X | g.108575940C>A | CA413922230 | COL4A5 | c.577C>A (p.Pro193Thr) c.253C>A (p.Pro85Thr) c.592C>A (p.Pro198Thr) | gnomAD v4 |
X | g.108575940C>G | CA413922235 | COL4A5 | c.577C>G (p.Pro193Ala) c.253C>G (p.Pro85Ala) c.592C>G (p.Pro198Ala) | |
X | g.108575940C>T | CA413922238 | COL4A5 | c.577C>T (p.Pro193Ser) c.253C>T (p.Pro85Ser) c.592C>T (p.Pro198Ser) | gnomAD v4 |
X | g.108575941del | CA2694411575 | COL4A5 | c.578del (p.Pro193GlnfsTer10) c.254del (p.Pro85GlnfsTer10) c.593del (p.Pro198GlnfsTer10) | gnomAD v4 |
X | g.108575941C>A | CA413922249 | COL4A5 | c.578C>A (p.Pro193Gln) c.254C>A (p.Pro85Gln) c.593C>A (p.Pro198Gln) | gnomAD v4 |
X | g.108575941C= | CA2450681489 | COL4A5 | c.578C= (p.Pro193=) c.254C= (p.Pro85=) c.593C= (p.Pro198=) | |
X | g.108575941C>G | CA413922250 | COL4A5 | c.578C>G (p.Pro193Arg) c.254C>G (p.Pro85Arg) c.593C>G (p.Pro198Arg) | |
X | g.108575941C>T | CA334179907 | COL4A5 | c.578C>T (p.Pro193Leu) c.254C>T (p.Pro85Leu) c.593C>T (p.Pro198Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575942A= | CA2450681490 | COL4A5 | c.579A= (p.Pro193=) c.255A= (p.Pro85=) c.594A= (p.Pro198=) | |
X | g.108575942A>C | CA517991685 | COL4A5 | c.579A>C (p.Pro193=) c.255A>C (p.Pro85=) c.594A>C (p.Pro198=) | gnomAD v4 |
X | g.108575942A>G | CA517991686 | COL4A5 | c.579A>G (p.Pro193=) c.255A>G (p.Pro85=) c.594A>G (p.Pro198=) | dbSNP |
X | g.108575942A>T | CA517991687 | COL4A5 | c.579A>T (p.Pro193=) c.255A>T (p.Pro85=) c.594A>T (p.Pro198=) | |
X | g.108575943A= | CA2450681491 | COL4A5 | c.580A= (p.Ile194=) c.256A= (p.Ile86=) c.595A= (p.Ile199=) | |
X | g.108575943A>C | CA413922256 | COL4A5 | c.580A>C (p.Ile194Leu) c.256A>C (p.Ile86Leu) c.595A>C (p.Ile199Leu) | |
X | g.108575943A>G | CA10488511 | COL4A5 | c.580A>G (p.Ile194Val) c.256A>G (p.Ile86Val) c.595A>G (p.Ile199Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575943A>T | CA413922265 | COL4A5 | c.580A>T (p.Ile194Phe) c.256A>T (p.Ile86Phe) c.595A>T (p.Ile199Phe) | |
X | g.108575944T>A | CA413922270 | COL4A5 | c.581T>A (p.Ile194Asn) c.257T>A (p.Ile86Asn) c.596T>A (p.Ile199Asn) | gnomAD v4 |
X | g.108575944T>C | CA334179910 | COL4A5 | c.581T>C (p.Ile194Thr) c.257T>C (p.Ile86Thr) c.596T>C (p.Ile199Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575944T>G | CA413922279 | COL4A5 | c.581T>G (p.Ile194Ser) c.257T>G (p.Ile86Ser) c.596T>G (p.Ile199Ser) | |
X | g.108575944T= | CA2450681492 | COL4A5 | c.581T= (p.Ile194=) c.257T= (p.Ile86=) c.596T= (p.Ile199=) | |
X | g.108575945T>A | CA517991689 | COL4A5 | c.582T>A (p.Ile194=) c.258T>A (p.Ile86=) c.597T>A (p.Ile199=) | |
X | g.108575945T>C | CA517991688 | COL4A5 | c.582T>C (p.Ile194=) c.258T>C (p.Ile86=) c.597T>C (p.Ile199=) | gnomAD v4 |
X | g.108575945T>G | CA413922281 | COL4A5 | c.582T>G (p.Ile194Met) c.258T>G (p.Ile86Met) c.597T>G (p.Ile199Met) | |
X | g.108575946G>A | CA413922284 | COL4A5 | c.583G>A (p.Gly195Ser) c.259G>A (p.Gly87Ser) c.598G>A (p.Gly200Ser) | gnomAD v4 |
X | g.108575946G>C | CA413922282 | COL4A5 | c.583G>C (p.Gly195Arg) c.259G>C (p.Gly87Arg) c.598G>C (p.Gly200Arg) | |
X | g.108575946G>T | CA413922283 | COL4A5 | c.583G>T (p.Gly195Cys) c.259G>T (p.Gly87Cys) c.598G>T (p.Gly200Cys) | gnomAD v4 COSMIC COSMIC |
X | g.108575947G>A | CA258276 | COL4A5 | c.584G>A (p.Gly195Asp) c.260G>A (p.Gly87Asp) c.599G>A (p.Gly200Asp) | ClinVar dbSNP |
X | g.108575947G>C | CA413922298 | COL4A5 | c.584G>C (p.Gly195Ala) c.260G>C (p.Gly87Ala) c.599G>C (p.Gly200Ala) | gnomAD v4 |
X | g.108575947G= | CA2450681493 | COL4A5 | c.584G= (p.Gly195=) c.260G= (p.Gly87=) c.599G= (p.Gly200=) | |
X | g.108575947G>T | CA413922299 | COL4A5 | c.584G>T (p.Gly195Val) c.260G>T (p.Gly87Val) c.599G>T (p.Gly200Val) | ClinVar dbSNP COSMIC COSMIC |
X | g.108575948del | CA2694411592 | COL4A5 | c.585del (p.Pro197GlnfsTer6) c.261del (p.Pro89GlnfsTer6) c.600del (p.Pro202GlnfsTer6) | ClinVar gnomAD v4 |
X | g.108575948T>A | CA517991690 | COL4A5 | c.585T>A (p.Gly195=) c.261T>A (p.Gly87=) c.600T>A (p.Gly200=) | |
X | g.108575948T>C | CA517991691 | COL4A5 | c.585T>C (p.Gly195=) c.261T>C (p.Gly87=) c.600T>C (p.Gly200=) | gnomAD v4 |
X | g.108575948T>G | CA517991692 | COL4A5 | c.585T>G (p.Gly195=) c.261T>G (p.Gly87=) c.600T>G (p.Gly200=) | |
X | g.108575948_108575949delinsTC | CA2450681494 | COL4A5 | c.585_586delinsTC (p.Gly195=) c.261_262delinsTC (p.Gly87=) c.600_601delinsTC (p.Gly200=) | |
X | g.108575949C>A | CA413922301 | COL4A5 | c.586C>A (p.Pro196Thr) c.262C>A (p.Pro88Thr) c.601C>A (p.Pro201Thr) | gnomAD v4 |
X | g.108575949C>G | CA413922304 | COL4A5 | c.586C>G (p.Pro196Ala) c.262C>G (p.Pro88Ala) c.601C>G (p.Pro201Ala) | |
X | g.108575949C>T | CA413922311 | COL4A5 | c.586C>T (p.Pro196Ser) c.262C>T (p.Pro88Ser) c.601C>T (p.Pro201Ser) | gnomAD v4 |
X | g.108575953del | CA891843911 | COL4A5 | c.590del (p.Pro197GlnfsTer6) c.266del (p.Pro89GlnfsTer6) c.605del (p.Pro202GlnfsTer6) | gnomAD v4 |
X | g.108575950C>A | CA413922314 | COL4A5 | c.587C>A (p.Pro196His) c.263C>A (p.Pro88His) c.602C>A (p.Pro201His) | gnomAD v4 |
X | g.108575950C= | CA2450681495 | COL4A5 | c.587C= (p.Pro196=) c.263C= (p.Pro88=) c.602C= (p.Pro201=) | |
X | g.108575950C>G | CA413922326 | COL4A5 | c.587C>G (p.Pro196Arg) c.263C>G (p.Pro88Arg) c.602C>G (p.Pro201Arg) | |
X | g.108575950C>T | CA413922332 | COL4A5 | c.587C>T (p.Pro196Leu) c.263C>T (p.Pro88Leu) c.602C>T (p.Pro201Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108575951C>A | CA517991693 | COL4A5 | c.588C>A (p.Pro196=) c.264C>A (p.Pro88=) c.603C>A (p.Pro201=) | gnomAD v4 |
X | g.108575951C>G | CA517991694 | COL4A5 | c.588C>G (p.Pro196=) c.264C>G (p.Pro88=) c.603C>G (p.Pro201=) | gnomAD v4 |
X | g.108575951C>T | CA517991695 | COL4A5 | c.588C>T (p.Pro196=) c.264C>T (p.Pro88=) c.603C>T (p.Pro201=) | gnomAD v4 |
X | g.108575951_108575954del | CA2694411599 | COL4A5 | c.588_591del (p.Pro197AspfsTer5) c.264_267del (p.Pro89AspfsTer5) c.603_606del (p.Pro202AspfsTer5) | gnomAD v4 |
X | g.108575952C>A | CA413922342 | COL4A5 | c.589C>A (p.Pro197Thr) c.265C>A (p.Pro89Thr) c.604C>A (p.Pro202Thr) | gnomAD v4 |
X | g.108575952C= | CA2450681496 | COL4A5 | c.589C= (p.Pro197=) c.265C= (p.Pro89=) c.604C= (p.Pro202=) | |
X | g.108575952C>G | CA413922343 | COL4A5 | c.589C>G (p.Pro197Ala) c.265C>G (p.Pro89Ala) c.604C>G (p.Pro202Ala) | |
X | g.108575952C>T | CA10488512 | COL4A5 | c.589C>T (p.Pro197Ser) c.265C>T (p.Pro89Ser) c.604C>T (p.Pro202Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575953C>A | CA413922351 | COL4A5 | c.590C>A (p.Pro197Gln) c.266C>A (p.Pro89Gln) c.605C>A (p.Pro202Gln) | gnomAD v4 |
X | g.108575953C>G | CA413922348 | COL4A5 | c.590C>G (p.Pro197Arg) c.266C>G (p.Pro89Arg) c.605C>G (p.Pro202Arg) | |
X | g.108575953C>T | CA413922345 | COL4A5 | c.590C>T (p.Pro197Leu) c.266C>T (p.Pro89Leu) c.605C>T (p.Pro202Leu) | gnomAD v4 |
X | g.108575954A= | CA2450681497 | COL4A5 | c.591A= (p.Pro197=) c.267A= (p.Pro89=) c.606A= (p.Pro202=) | |
X | g.108575954A>C | CA517991696 | COL4A5 | c.591A>C (p.Pro197=) c.267A>C (p.Pro89=) c.606A>C (p.Pro202=) | |
X | g.108575954A>G | CA517991697 | COL4A5 | c.591A>G (p.Pro197=) c.267A>G (p.Pro89=) c.606A>G (p.Pro202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108575954A>T | CA517991698 | COL4A5 | c.591A>T (p.Pro197=) c.267A>T (p.Pro89=) c.606A>T (p.Pro202=) | gnomAD v4 |
X | g.108575955G>A | CA413922363 | COL4A5 | c.592G>A (p.Gly198Arg) c.268G>A (p.Gly90Arg) c.607G>A (p.Gly203Arg) | gnomAD v4 |
X | g.108575955G>C | CA413922359 | COL4A5 | c.592G>C (p.Gly198Arg) c.268G>C (p.Gly90Arg) c.607G>C (p.Gly203Arg) | |
X | g.108575955G>T | CA413922372 | COL4A5 | c.592G>T (p.Gly198Ter) c.268G>T (p.Gly90Ter) c.607G>T (p.Gly203Ter) | |
X | g.108575956G>A | CA258279 | COL4A5 | c.593G>A (p.Gly198Glu) c.269G>A (p.Gly90Glu) c.608G>A (p.Gly203Glu) | dbSNP gnomAD v4 |
X | g.108575956G>C | CA413922399 | COL4A5 | c.593G>C (p.Gly198Ala) c.269G>C (p.Gly90Ala) c.608G>C (p.Gly203Ala) | |
X | g.108575956G= | CA2450681498 | COL4A5 | c.593G= (p.Gly198=) c.269G= (p.Gly90=) c.608G= (p.Gly203=) | |
X | g.108575956G>T | CA413922386 | COL4A5 | c.593G>T (p.Gly198Val) c.269G>T (p.Gly90Val) c.608G>T (p.Gly203Val) | gnomAD v4 |
X | g.108575957A>C | CA517991699 | COL4A5 | c.594A>C (p.Gly198=) c.270A>C (p.Gly90=) c.609A>C (p.Gly203=) | |
X | g.108575957A>G | CA517991700 | COL4A5 | c.594A>G (p.Gly198=) c.270A>G (p.Gly90=) c.609A>G (p.Gly203=) | |
X | g.108575957A>T | CA517991701 | COL4A5 | c.594A>T (p.Gly198=) c.270A>T (p.Gly90=) c.609A>T (p.Gly203=) | |
X | g.108575957dup | CA658823831 | COL4A5 | c.594dup (p.Pro199ThrfsTer17) c.270dup (p.Pro91ThrfsTer17) c.609dup (p.Pro204ThrfsTer17) | ClinVar dbSNP |
X | g.108575957_108575960dup | CA2695235184 | COL4A5 | c.594_597dup (p.Pro200ThrfsTer17) c.270_273dup (p.Pro92ThrfsTer17) c.609_612dup (p.Pro205ThrfsTer17) | |
X | g.108575958C>A | CA413922412 | COL4A5 | c.595C>A (p.Pro199Thr) c.271C>A (p.Pro91Thr) c.610C>A (p.Pro204Thr) | gnomAD v4 |
X | g.108575958C>G | CA413922420 | COL4A5 | c.595C>G (p.Pro199Ala) c.271C>G (p.Pro91Ala) c.610C>G (p.Pro204Ala) | |
X | g.108575958C>T | CA413922423 | COL4A5 | c.595C>T (p.Pro199Ser) c.271C>T (p.Pro91Ser) c.610C>T (p.Pro204Ser) | gnomAD v4 |
X | g.108575959del | CA2694411607 | COL4A5 | c.596del (p.Pro199HisfsTer4) c.272del (p.Pro91HisfsTer4) c.611del (p.Pro204HisfsTer4) | gnomAD v4 |
X | g.108575959C>A | CA10488513 | COL4A5 | c.596C>A (p.Pro199Gln) c.272C>A (p.Pro91Gln) c.611C>A (p.Pro204Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575959C= | CA2450681499 | COL4A5 | c.596C= (p.Pro199=) c.272C= (p.Pro91=) c.611C= (p.Pro204=) | |
X | g.108575959C>G | CA413922424 | COL4A5 | c.596C>G (p.Pro199Arg) c.272C>G (p.Pro91Arg) c.611C>G (p.Pro204Arg) | |
X | g.108575959C>T | CA413922425 | COL4A5 | c.596C>T (p.Pro199Leu) c.272C>T (p.Pro91Leu) c.611C>T (p.Pro204Leu) | gnomAD v4 |
X | g.108575960A>C | CA517991702 | COL4A5 | c.597A>C (p.Pro199=) c.273A>C (p.Pro91=) c.612A>C (p.Pro204=) | |
X | g.108575960A>G | CA517991703 | COL4A5 | c.597A>G (p.Pro199=) c.273A>G (p.Pro91=) c.612A>G (p.Pro204=) | gnomAD v4 |
X | g.108575960A>T | CA517991704 | COL4A5 | c.597A>T (p.Pro199=) c.273A>T (p.Pro91=) c.612A>T (p.Pro204=) | gnomAD v4 |
X | g.108575961C>A | CA413922426 | COL4A5 | c.598C>A (p.Pro200Thr) c.274C>A (p.Pro92Thr) c.613C>A (p.Pro205Thr) | gnomAD v4 |
X | g.108575961C>G | CA413922428 | COL4A5 | c.598C>G (p.Pro200Ala) c.274C>G (p.Pro92Ala) c.613C>G (p.Pro205Ala) | |
X | g.108575961C>T | CA413922429 | COL4A5 | c.598C>T (p.Pro200Ser) c.274C>T (p.Pro92Ser) c.613C>T (p.Pro205Ser) | gnomAD v4 |
X | g.108575961_108575962del | CA2694411629 | COL4A5 | c.598_599del (p.Pro200ArgfsTer15) c.274_275del (p.Pro92ArgfsTer15) c.613_614del (p.Pro205ArgfsTer15) | gnomAD v4 |
X | g.108575962del | CA2694411628 | COL4A5 | c.599del (p.Pro200GlnfsTer3) c.275del (p.Pro92GlnfsTer3) c.614del (p.Pro205GlnfsTer3) | gnomAD v4 |
X | g.108575962C>A | CA413922436 | COL4A5 | c.599C>A (p.Pro200Gln) c.275C>A (p.Pro92Gln) c.614C>A (p.Pro205Gln) | gnomAD v4 |
X | g.108575962C>G | CA413922437 | COL4A5 | c.599C>G (p.Pro200Arg) c.275C>G (p.Pro92Arg) c.614C>G (p.Pro205Arg) | gnomAD v4 |
X | g.108575962C>T | CA413922439 | COL4A5 | c.599C>T (p.Pro200Leu) c.275C>T (p.Pro92Leu) c.614C>T (p.Pro205Leu) | ClinVar gnomAD v4 |
X | g.108575963del | CA2740097814 | COL4A5 | c.600del (p.Gly201ValfsTer2) c.276del (p.Gly93ValfsTer2) c.615del (p.Gly206ValfsTer2) | ClinVar |
X | g.108575963A= | CA2450681500 | COL4A5 | c.600A= (p.Pro200=) c.276A= (p.Pro92=) c.615A= (p.Pro205=) | |
X | g.108575963A>C | CA334179916 | COL4A5 | c.600A>C (p.Pro200=) c.276A>C (p.Pro92=) c.615A>C (p.Pro205=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108575963A>G | CA517991705 | COL4A5 | c.600A>G (p.Pro200=) c.276A>G (p.Pro92=) c.615A>G (p.Pro205=) | gnomAD v4 |
X | g.108575963A>T | CA517991706 | COL4A5 | c.600A>T (p.Pro200=) c.276A>T (p.Pro92=) c.615A>T (p.Pro205=) | gnomAD v4 |
X | g.108575963_108575964insAACCTGGTGGTCCTG | CA2694411661 | COL4A5 | c.600_601insAACCTGGTGGTCCTG (p.Pro200_Gly201insAsnLeuValValLeu) c.276_277insAACCTGGTGGTCCTG (p.Pro92_Gly93insAsnLeuValValLeu) c.615_616insAACCTGGTGGTCCTG (p.Pro205_Gly206insAsnLeuValValLeu) | gnomAD v4 |
X | g.108575964G>A | CA413922447 | COL4A5 | c.601G>A (p.Gly201Ser) c.277G>A (p.Gly93Ser) c.616G>A (p.Gly206Ser) | gnomAD v4 |
X | g.108575964G>C | CA413922456 | COL4A5 | c.601G>C (p.Gly201Arg) c.277G>C (p.Gly93Arg) c.616G>C (p.Gly206Arg) | |
X | g.108575964G>T | CA413922454 | COL4A5 | c.601G>T (p.Gly201Cys) c.277G>T (p.Gly93Cys) c.616G>T (p.Gly206Cys) | gnomAD v3 gnomAD v4 |
X | g.108575964_108575966del | CA2694411662 | COL4A5 | c.601_603del (p.Gly201del) c.277_279del (p.Gly93del) c.616_618del (p.Gly206del) | gnomAD v4 |
X | g.108575965G>A | CA413922460 | COL4A5 | c.602G>A (p.Gly201Asp) c.278G>A (p.Gly93Asp) c.617G>A (p.Gly206Asp) | ClinVar dbSNP gnomAD v4 |
X | g.108575965G>C | CA10488514 | COL4A5 | c.602G>C (p.Gly201Ala) c.278G>C (p.Gly93Ala) c.617G>C (p.Gly206Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108575965G= | CA2450681501 | COL4A5 | c.602G= (p.Gly201=) c.278G= (p.Gly93=) c.617G= (p.Gly206=) | |
X | g.108575965G>T | CA258282 | COL4A5 | c.602G>T (p.Gly201Val) c.278G>T (p.Gly93Val) c.617G>T (p.Gly206Val) | dbSNP gnomAD v4 |
X | g.108575966T>A | CA517991709 | COL4A5 | c.603T>A (p.Gly201=) c.279T>A (p.Gly93=) c.618T>A (p.Gly206=) | |
X | g.108575966T>C | CA517991708 | COL4A5 | c.603T>C (p.Gly201=) c.279T>C (p.Gly93=) c.618T>C (p.Gly206=) | gnomAD v4 |
X | g.108575966T>G | CA517991707 | COL4A5 | c.603T>G (p.Gly201=) c.279T>G (p.Gly93=) c.618T>G (p.Gly206=) | |
X | g.108575968del | CA2694411668 | COL4A5 | c.605del (p.Leu202Ter) c.281del (p.Leu94Ter) c.620del (p.Leu207Ter) | gnomAD v4 |
X | g.108575967T>A | CA413922473 | COL4A5 | c.604T>A (p.Leu202Met) c.280T>A (p.Leu94Met) c.619T>A (p.Leu207Met) | |
X | g.108575967T>C | CA517991710 | COL4A5 | c.604T>C (p.Leu202=) c.280T>C (p.Leu94=) c.619T>C (p.Leu207=) | gnomAD v4 |
X | g.108575967T>G | CA413922486 | COL4A5 | c.604T>G (p.Leu202Val) c.280T>G (p.Leu94Val) c.619T>G (p.Leu207Val) | gnomAD v4 |
X | g.108575968T>A | CA413922496 | COL4A5 | c.605T>A (p.Leu202Ter) c.281T>A (p.Leu94Ter) c.620T>A (p.Leu207Ter) | |
X | g.108575968T>C | CA413922508 | COL4A5 | c.605T>C (p.Leu202Ser) c.281T>C (p.Leu94Ser) c.620T>C (p.Leu207Ser) | |
X | g.108575968T>G | CA413922512 | COL4A5 | c.605T>G (p.Leu202Trp) c.281T>G (p.Leu94Trp) c.620T>G (p.Leu207Trp) | |
X | g.108575969G>A | CA517991711 | COL4A5 | c.606G>A (p.Leu202=) c.282G>A (p.Leu94=) c.621G>A (p.Leu207=) | gnomAD v4 |
X | g.108575969G>C | CA10488515 | COL4A5 | c.606G>C (p.Leu202Phe) c.282G>C (p.Leu94Phe) c.621G>C (p.Leu207Phe) | dbSNP ExAC gnomAD v2 |
X | g.108575969G= | CA2450681502 | COL4A5 | c.606G= (p.Leu202=) c.282G= (p.Leu94=) c.621G= (p.Leu207=) | |
X | g.108575969G>T | CA413922532 | COL4A5 | c.606G>T (p.Leu202Phe) c.282G>T (p.Leu94Phe) c.621G>T (p.Leu207Phe) | gnomAD v4 |
X | g.108575970A>C | CA413922538 | COL4A5 | c.607A>C (p.Met203Leu) c.283A>C (p.Met95Leu) c.622A>C (p.Met208Leu) | |
X | g.108575970A>G | CA413922540 | COL4A5 | c.607A>G (p.Met203Val) c.283A>G (p.Met95Val) c.622A>G (p.Met208Val) | gnomAD v4 |
X | g.108575970A>T | CA413922533 | COL4A5 | c.607A>T (p.Met203Leu) c.283A>T (p.Met95Leu) c.622A>T (p.Met208Leu) | |
X | g.108575971T>A | CA413922543 | COL4A5 | c.608T>A (p.Met203Lys) c.284T>A (p.Met95Lys) c.623T>A (p.Met208Lys) | |
X | g.108575971T>C | CA413922544 | COL4A5 | c.608T>C (p.Met203Thr) c.284T>C (p.Met95Thr) c.623T>C (p.Met208Thr) | gnomAD v4 |
X | g.108575971T>G | CA413922548 | COL4A5 | c.608T>G (p.Met203Arg) c.284T>G (p.Met95Arg) c.623T>G (p.Met208Arg) | |
X | g.108575972G>A | CA413922554 | COL4A5 | c.609G>A (p.Met203Ile) c.285G>A (p.Met95Ile) c.624G>A (p.Met208Ile) | gnomAD v4 |
X | g.108575972G>C | CA413922556 | COL4A5 | c.609G>C (p.Met203Ile) c.285G>C (p.Met95Ile) c.624G>C (p.Met208Ile) | |
X | g.108575972G>T | CA413922559 | COL4A5 | c.609G>T (p.Met203Ile) c.285G>T (p.Met95Ile) c.624G>T (p.Met208Ile) | ClinVar dbSNP |
X | g.108575973G>A | CA258285 | COL4A5 | c.609+1G>A (n.609+1G>A) c.285+1G>A (n.285+1G>A) c.624+1G>A (n.624+1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108575973G>C | CA413922577 | COL4A5 | c.609+1G>C (n.609+1G>C) c.285+1G>C (n.285+1G>C) c.624+1G>C (n.624+1G>C) | |
X | g.108575973G= | CA2450681503 | COL4A5 | c.609+1G= (n.609+1G=) c.285+1G= (n.285+1G=) c.624+1G= (n.624+1G=) | |
X | g.108575973G>T | CA413922580 | COL4A5 | c.609+1G>T (n.609+1G>T) c.285+1G>T (n.285+1G>T) c.624+1G>T (n.624+1G>T) | gnomAD v4 |
X | g.108575974T>A | CA413922592 | COL4A5 | c.609+2T>A (n.609+2T>A) c.285+2T>A (n.285+2T>A) c.624+2T>A (n.624+2T>A) | gnomAD v4 |
X | g.108575974T>C | CA413922606 | COL4A5 | c.609+2T>C (n.609+2T>C) c.285+2T>C (n.285+2T>C) c.624+2T>C (n.624+2T>C) | gnomAD v4 |
X | g.108575974T>G | CA413922616 | COL4A5 | c.609+2T>G (n.609+2T>G) c.285+2T>G (n.285+2T>G) c.624+2T>G (n.624+2T>G) | |
X | g.108575975A>C | CA2694411698 | COL4A5 | c.609+3A>C (n.609+3A>C) c.285+3A>C (n.285+3A>C) c.624+3A>C (n.624+3A>C) | gnomAD v4 |
X | g.108575975A>G | CA2694411701 | COL4A5 | c.609+3A>G (n.609+3A>G) c.285+3A>G (n.285+3A>G) c.624+3A>G (n.624+3A>G) | gnomAD v4 |
X | g.108575976del | CA2694411697 | COL4A5 | c.609+4del (n.609+4del) c.285+4del (n.285+4del) c.624+4del (n.624+4del) | gnomAD v4 |
X | g.108575976A>G | CA2694411704 | COL4A5 | c.609+4A>G (n.609+4A>G) c.285+4A>G (n.285+4A>G) c.624+4A>G (n.624+4A>G) | gnomAD v4 |
X | g.108575977G>A | CA643749773 | COL4A5 | c.609+5G>A (n.609+5G>A) c.285+5G>A (n.285+5G>A) c.624+5G>A (n.624+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108575977G= | CA2450681504 | COL4A5 | c.609+5G= (n.609+5G=) c.285+5G= (n.285+5G=) c.624+5G= (n.624+5G=) | |
X | g.108575978C>A | CA2579675906 | COL4A5 | c.609+6C>A (n.609+6C>A) c.285+6C>A (n.285+6C>A) c.624+6C>A (n.624+6C>A) | gnomAD v4 |
X | g.108575978C>T | CA2694411709 | COL4A5 | c.609+6C>T (n.609+6C>T) c.285+6C>T (n.285+6C>T) c.624+6C>T (n.624+6C>T) | gnomAD v4 |
X | g.108575979T>C | CA2579675907 | COL4A5 | c.609+7T>C (n.609+7T>C) c.285+7T>C (n.285+7T>C) c.624+7T>C (n.624+7T>C) | gnomAD v4 |
X | g.108575980C>A | CA2694411715 | COL4A5 | c.609+8C>A (n.609+8C>A) c.285+8C>A (n.285+8C>A) c.624+8C>A (n.624+8C>A) | ClinVar gnomAD v4 |
X | g.108575980C= | CA2450681505 | COL4A5 | c.609+8C= (n.609+8C=) c.285+8C= (n.285+8C=) c.624+8C= (n.624+8C=) | |
X | g.108575980C>T | CA334179920 | COL4A5 | c.609+8C>T (n.609+8C>T) c.285+8C>T (n.285+8C>T) c.624+8C>T (n.624+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108575980_108575983delinsCTCT | CA2450681506 | COL4A5 | c.609+8_609+11delinsCTCT (n.609+8_609+11delinsCTCT) c.285+8_285+11delinsCTCT (n.285+8_285+11delinsCTCT) c.624+8_624+11delinsCTCT (n.624+8_624+11delinsCTCT) | |
X | g.108575981T>C | CA2694411721 | COL4A5 | c.609+9T>C (n.609+9T>C) c.285+9T>C (n.285+9T>C) c.624+9T>C (n.624+9T>C) | gnomAD v4 |
X | g.108575985_108575987del | CA517991712 | COL4A5 | c.609+13_609+15del (n.609+13_609+15del) c.285+13_285+15del (n.285+13_285+15del) c.624+13_624+15del (n.624+13_624+15del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108575982C>A | CA2694411722 | COL4A5 | c.609+10C>A (n.609+10C>A) c.285+10C>A (n.285+10C>A) c.624+10C>A (n.624+10C>A) | gnomAD v4 |
X | g.108575982C>T | CA2694411723 | COL4A5 | c.609+10C>T (n.609+10C>T) c.285+10C>T (n.285+10C>T) c.624+10C>T (n.624+10C>T) | gnomAD v4 |
X | g.108575982_108575987delinsCTTCTT | CA2450681507 | COL4A5 | c.609+10_609+15delinsCTTCTT (n.609+10_609+15delinsCTTCTT) c.285+10_285+15delinsCTTCTT (n.285+10_285+15delinsCTTCTT) c.624+10_624+15delinsCTTCTT (n.624+10_624+15delinsCTTCTT) | |
X | g.108575983T>A | CA2694411726 | COL4A5 | c.609+11T>A (n.609+11T>A) c.285+11T>A (n.285+11T>A) c.624+11T>A (n.624+11T>A) | gnomAD v4 |
X | g.108575983T>C | CA2694411728 | COL4A5 | c.609+11T>C (n.609+11T>C) c.285+11T>C (n.285+11T>C) c.624+11T>C (n.624+11T>C) | gnomAD v4 |
X | g.108575983T>G | CA2694411729 | COL4A5 | c.609+11T>G (n.609+11T>G) c.285+11T>G (n.285+11T>G) c.624+11T>G (n.624+11T>G) | gnomAD v4 |
X | g.108575984del | CA2694411724 | COL4A5 | c.609+12del (n.609+12del) c.285+12del (n.285+12del) c.624+12del (n.624+12del) | gnomAD v4 |
X | g.108575984_108575988del | CA643749774 | COL4A5 | c.609+12_609+16del (n.609+12_609+16del) c.285+12_285+16del (n.285+12_285+16del) c.624+12_624+16del (n.624+12_624+16del) | dbSNP gnomAD v2 gnomAD v4 |