UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110177847del | CA2543554045 | COL4A1 | c.2715del (p.Asp907ThrfsTer16) c.2523del (p.Asp843ThrfsTer16) | gnomAD v4 |
| 13 | g.110177846T>A | CA388667372 | COL4A1 | c.2712A>T (p.Glu904Asp) c.2520A>T (p.Glu840Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177846T>C | CA484789806 | COL4A1 | c.2712A>G (p.Glu904=) c.2520A>G (p.Glu840=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110177846T>G | CA388667373 | COL4A1 | c.2712A>C (p.Glu904Asp) c.2520A>C (p.Glu840Asp) | |
| 13 | g.110177846T= | CA2118731453 | COL4A1 | c.2712A= (p.Glu904=) c.2520A= (p.Glu840=) | |
| 13 | g.110177847T>A | CA388667375 | COL4A1 | c.2711A>T (p.Glu904Val) c.2519A>T (p.Glu840Val) | |
| 13 | g.110177847T>C | CA256255364 | COL4A1 | c.2711A>G (p.Glu904Gly) c.2519A>G (p.Glu840Gly) | ClinVar dbSNP |
| 13 | g.110177847T>G | CA388667377 | COL4A1 | c.2711A>C (p.Glu904Ala) c.2519A>C (p.Glu840Ala) | gnomAD v4 |
| 13 | g.110177847T= | CA2118731456 | COL4A1 | c.2711A= (p.Glu904=) c.2519A= (p.Glu840=) | |
| 13 | g.110177848C>A | CA388667379 | COL4A1 | c.2710G>T (p.Glu904Ter) c.2518G>T (p.Glu840Ter) | gnomAD v4 |
| 13 | g.110177848C>G | CA388667380 | COL4A1 | c.2710G>C (p.Glu904Gln) c.2518G>C (p.Glu840Gln) | |
| 13 | g.110177848C>T | CA388667382 | COL4A1 | c.2710G>A (p.Glu904Lys) c.2518G>A (p.Glu840Lys) | |
| 13 | g.110177849A>C | CA484789809 | COL4A1 | c.2709T>G (p.Gly903=) c.2517T>G (p.Gly839=) | |
| 13 | g.110177849A>G | CA484789808 | COL4A1 | c.2709T>C (p.Gly903=) c.2517T>C (p.Gly839=) | |
| 13 | g.110177849A>T | CA484789807 | COL4A1 | c.2709T>A (p.Gly903=) c.2517T>A (p.Gly839=) | |
| 13 | g.110177850C>A | CA388667384 | COL4A1 | c.2708G>T (p.Gly903Val) c.2516G>T (p.Gly839Val) | |
| 13 | g.110177850C>G | CA388667385 | COL4A1 | c.2708G>C (p.Gly903Ala) c.2516G>C (p.Gly839Ala) | |
| 13 | g.110177850C>T | CA388667387 | COL4A1 | c.2708G>A (p.Gly903Asp) c.2516G>A (p.Gly839Asp) | ClinVar |
| 13 | g.110177851C>A | CA388667393 | COL4A1 | c.2707G>T (p.Gly903Cys) c.2515G>T (p.Gly839Cys) | |
| 13 | g.110177851C>G | CA388667392 | COL4A1 | c.2707G>C (p.Gly903Arg) c.2515G>C (p.Gly839Arg) | |
| 13 | g.110177851C>T | CA388667390 | COL4A1 | c.2707G>A (p.Gly903Ser) c.2515G>A (p.Gly839Ser) | |
| 13 | g.110177852C>A | CA484789810 | COL4A1 | c.2706G>T (p.Pro902=) c.2514G>T (p.Pro838=) | dbSNP COSMIC COSMIC |
| 13 | g.110177852C= | CA2118731465 | COL4A1 | c.2706G= (p.Pro902=) c.2514G= (p.Pro838=) | |
| 13 | g.110177852C>G | CA484789811 | COL4A1 | c.2706G>C (p.Pro902=) c.2514G>C (p.Pro838=) | |
| 13 | g.110177852C>T | CA7047511 | COL4A1 | c.2706G>A (p.Pro902=) c.2514G>A (p.Pro838=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177853G>A | CA388667396 | COL4A1 | c.2705C>T (p.Pro902Leu) c.2513C>T (p.Pro838Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177853G>C | CA7047512 | COL4A1 | c.2705C>G (p.Pro902Arg) c.2513C>G (p.Pro838Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177853G= | CA2118731470 | COL4A1 | c.2705C= (p.Pro902=) c.2513C= (p.Pro838=) | |
| 13 | g.110177853G>T | CA388667398 | COL4A1 | c.2705C>A (p.Pro902Gln) c.2513C>A (p.Pro838Gln) | |
| 13 | g.110177854G>A | CA7047513 | COL4A1 | c.2704C>T (p.Pro902Ser) c.2512C>T (p.Pro838Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177854G>C | CA388667400 | COL4A1 | c.2704C>G (p.Pro902Ala) c.2512C>G (p.Pro838Ala) | dbSNP |
| 13 | g.110177854G= | CA2118731475 | COL4A1 | c.2704C= (p.Pro902=) c.2512C= (p.Pro838=) | |
| 13 | g.110177854G>T | CA388667401 | COL4A1 | c.2704C>A (p.Pro902Thr) c.2512C>A (p.Pro838Thr) | |
| 13 | g.110177855T>A | CA388667403 | COL4A1 | c.2703A>T (p.Leu901Phe) c.2511A>T (p.Leu837Phe) | |
| 13 | g.110177855T>C | CA484789812 | COL4A1 | c.2703A>G (p.Leu901=) c.2511A>G (p.Leu837=) | |
| 13 | g.110177855T>G | CA388667405 | COL4A1 | c.2703A>C (p.Leu901Phe) c.2511A>C (p.Leu837Phe) | |
| 13 | g.110177856A>C | CA388667407 | COL4A1 | c.2702T>G (p.Leu901Ter) c.2510T>G (p.Leu837Ter) | |
| 13 | g.110177856A>G | CA388667408 | COL4A1 | c.2702T>C (p.Leu901Ser) c.2510T>C (p.Leu837Ser) | |
| 13 | g.110177856A>T | CA388667410 | COL4A1 | c.2702T>A (p.Leu901Ter) c.2510T>A (p.Leu837Ter) | |
| 13 | g.110177857A>C | CA388667412 | COL4A1 | c.2701T>G (p.Leu901Val) c.2509T>G (p.Leu837Val) | |
| 13 | g.110177857A>G | CA484789813 | COL4A1 | c.2701T>C (p.Leu901=) c.2509T>C (p.Leu837=) | gnomAD v4 |
| 13 | g.110177857A>T | CA388667414 | COL4A1 | c.2701T>A (p.Leu901Ile) c.2509T>A (p.Leu837Ile) | |
| 13 | g.110177858T>A | CA484789814 | COL4A1 | c.2700A>T (p.Gly900=) c.2508A>T (p.Gly836=) | |
| 13 | g.110177858T>C | CA484789815 | COL4A1 | c.2700A>G (p.Gly900=) c.2508A>G (p.Gly836=) | |
| 13 | g.110177858T>G | CA484789816 | COL4A1 | c.2700A>C (p.Gly900=) c.2508A>C (p.Gly836=) | |
| 13 | g.110177859C>A | CA388667417 | COL4A1 | c.2699G>T (p.Gly900Val) c.2507G>T (p.Gly836Val) | |
| 13 | g.110177859C>G | CA388667419 | COL4A1 | c.2699G>C (p.Gly900Ala) c.2507G>C (p.Gly836Ala) | |
| 13 | g.110177859C>T | CA388667420 | COL4A1 | c.2699G>A (p.Gly900Glu) c.2507G>A (p.Gly836Glu) | |
| 13 | g.110177860C>A | CA388667422 | COL4A1 | c.2698G>T (p.Gly900Ter) c.2506G>T (p.Gly836Ter) | |
| 13 | g.110177860C>G | CA388667424 | COL4A1 | c.2698G>C (p.Gly900Arg) c.2506G>C (p.Gly836Arg) | |
| 13 | g.110177860C>T | CA388667425 | COL4A1 | c.2698G>A (p.Gly900Arg) c.2506G>A (p.Gly836Arg) | COSMIC COSMIC |
| 13 | g.110177861A= | CA2118731479 | COL4A1 | c.2697T= (p.Pro899=) c.2505T= (p.Pro835=) | |
| 13 | g.110177861A>C | CA484980914 | COL4A1 | c.2697T>G (p.Pro899=) c.2505T>G (p.Pro835=) | |
| 13 | g.110177861A>G | CA484980916 | COL4A1 | c.2697T>C (p.Pro899=) c.2505T>C (p.Pro835=) | |
| 13 | g.110177861A>T | CA7047514 | COL4A1 | c.2697T>A (p.Pro899=) c.2505T>A (p.Pro835=) | dbSNP ExAC gnomAD v2 |
| 13 | g.110177862G>A | CA7047515 | COL4A1 | c.2696C>T (p.Pro899Leu) c.2504C>T (p.Pro835Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110177862G>C | CA388667428 | COL4A1 | c.2696C>G (p.Pro899Arg) c.2504C>G (p.Pro835Arg) | |
| 13 | g.110177862G= | CA2118731484 | COL4A1 | c.2696C= (p.Pro899=) c.2504C= (p.Pro835=) | |
| 13 | g.110177862G>T | CA388667429 | COL4A1 | c.2696C>A (p.Pro899His) c.2504C>A (p.Pro835His) | |
| 13 | g.110177885_110177886insGCCGGGAGCACCCACTGGTCCTGGTGAG | CA2697551936 | COL4A1 | c.2696_2697insCGGCCTCACCAGGACCAGTGGGTGCTCC (p.Pro902ThrfsTer12) c.2504_2505insCGGCCTCACCAGGACCAGTGGGTGCTCC (p.Pro838ThrfsTer12) | ClinVar |
| 13 | g.110177863G>A | CA388667431 | COL4A1 | c.2695C>T (p.Pro899Ser) c.2503C>T (p.Pro835Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177863G>C | CA388667433 | COL4A1 | c.2695C>G (p.Pro899Ala) c.2503C>G (p.Pro835Ala) | COSMIC COSMIC |
| 13 | g.110177863G= | CA2118731487 | COL4A1 | c.2695C= (p.Pro899=) c.2503C= (p.Pro835=) | |
| 13 | g.110177863G>T | CA388667434 | COL4A1 | c.2695C>A (p.Pro899Thr) c.2503C>A (p.Pro835Thr) | |
| 13 | g.110177864A>C | CA484980922 | COL4A1 | c.2694T>G (p.Ala898=) c.2502T>G (p.Ala834=) | |
| 13 | g.110177864A>G | CA484980923 | COL4A1 | c.2694T>C (p.Ala898=) c.2502T>C (p.Ala834=) | |
| 13 | g.110177864A>T | CA484980924 | COL4A1 | c.2694T>A (p.Ala898=) c.2502T>A (p.Ala834=) | |
| 13 | g.110177865G>A | CA388667440 | COL4A1 | c.2693C>T (p.Ala898Val) c.2501C>T (p.Ala834Val) | |
| 13 | g.110177865G>C | CA388667437 | COL4A1 | c.2693C>G (p.Ala898Gly) c.2501C>G (p.Ala834Gly) | |
| 13 | g.110177865G>T | CA388667438 | COL4A1 | c.2693C>A (p.Ala898Asp) c.2501C>A (p.Ala834Asp) | |
| 13 | g.110177866C>A | CA388667442 | COL4A1 | c.2692G>T (p.Ala898Ser) c.2500G>T (p.Ala834Ser) | |
| 13 | g.110177866C>G | CA388667444 | COL4A1 | c.2692G>C (p.Ala898Pro) c.2500G>C (p.Ala834Pro) | |
| 13 | g.110177866C>T | CA388667445 | COL4A1 | c.2692G>A (p.Ala898Thr) c.2500G>A (p.Ala834Thr) | |
| 13 | g.110177867A>C | CA484980932 | COL4A1 | c.2691T>G (p.Gly897=) c.2499T>G (p.Gly833=) | |
| 13 | g.110177867A>G | CA484980933 | COL4A1 | c.2691T>C (p.Gly897=) c.2499T>C (p.Gly833=) | |
| 13 | g.110177867A>T | CA484980934 | COL4A1 | c.2691T>A (p.Gly897=) c.2499T>A (p.Gly833=) | |
| 13 | g.110177868C>A | CA388667447 | COL4A1 | c.2690G>T (p.Gly897Val) c.2498G>T (p.Gly833Val) | ClinVar |
| 13 | g.110177868C>G | CA388667449 | COL4A1 | c.2690G>C (p.Gly897Ala) c.2498G>C (p.Gly833Ala) | |
| 13 | g.110177868C>T | CA388667450 | COL4A1 | c.2690G>A (p.Gly897Asp) c.2498G>A (p.Gly833Asp) | ClinVar |
| 13 | g.110177869C>A | CA388667452 | COL4A1 | c.2689G>T (p.Gly897Cys) c.2497G>T (p.Gly833Cys) | |
| 13 | g.110177869C>G | CA388667453 | COL4A1 | c.2689G>C (p.Gly897Arg) c.2497G>C (p.Gly833Arg) | ClinVar |
| 13 | g.110177869C>T | CA388667455 | COL4A1 | c.2689G>A (p.Gly897Ser) c.2497G>A (p.Gly833Ser) | |
| 13 | g.110177870C>A | CA484980941 | COL4A1 | c.2688G>T (p.Val896=) c.2496G>T (p.Val832=) | |
| 13 | g.110177870C= | CA2118731489 | COL4A1 | c.2688G= (p.Val896=) c.2496G= (p.Val832=) | |
| 13 | g.110177870C>G | CA484980939 | COL4A1 | c.2688G>C (p.Val896=) c.2496G>C (p.Val832=) | |
| 13 | g.110177870C>T | CA484980940 | COL4A1 | c.2688G>A (p.Val896=) c.2496G>A (p.Val832=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110177871A>C | CA388667456 | COL4A1 | c.2687T>G (p.Val896Gly) c.2495T>G (p.Val832Gly) | |
| 13 | g.110177871A>G | CA388667458 | COL4A1 | c.2687T>C (p.Val896Ala) c.2495T>C (p.Val832Ala) | |
| 13 | g.110177871A>T | CA388667460 | COL4A1 | c.2687T>A (p.Val896Glu) c.2495T>A (p.Val832Glu) | |
| 13 | g.110177872C>A | CA388667464 | COL4A1 | c.2686G>T (p.Val896Leu) c.2494G>T (p.Val832Leu) | |
| 13 | g.110177872C>G | CA388667465 | COL4A1 | c.2686G>C (p.Val896Leu) c.2494G>C (p.Val832Leu) | |
| 13 | g.110177872C>T | CA388667462 | COL4A1 | c.2686G>A (p.Val896Met) c.2494G>A (p.Val832Met) | |
| 13 | g.110177873T>A | CA484980945 | COL4A1 | c.2685A>T (p.Pro895=) c.2493A>T (p.Pro831=) | |
| 13 | g.110177873T>C | CA484980947 | COL4A1 | c.2685A>G (p.Pro895=) c.2493A>G (p.Pro831=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177873T>G | CA484980948 | COL4A1 | c.2685A>C (p.Pro895=) c.2493A>C (p.Pro831=) | |
| 13 | g.110177873T= | CA2118731492 | COL4A1 | c.2685A= (p.Pro895=) c.2493A= (p.Pro831=) | |
| 13 | g.110177874G>A | CA388667469 | COL4A1 | c.2684C>T (p.Pro895Leu) c.2492C>T (p.Pro831Leu) | dbSNP |
| 13 | g.110177874G>C | CA388667467 | COL4A1 | c.2684C>G (p.Pro895Arg) c.2492C>G (p.Pro831Arg) | |
| 13 | g.110177874G= | CA2118731495 | COL4A1 | c.2684C= (p.Pro895=) c.2492C= (p.Pro831=) | |
| 13 | g.110177874G>T | CA388667471 | COL4A1 | c.2684C>A (p.Pro895Gln) c.2492C>A (p.Pro831Gln) | |
| 13 | g.110177875G>A | CA388667472 | COL4A1 | c.2683C>T (p.Pro895Ser) c.2491C>T (p.Pro831Ser) | gnomAD v4 COSMIC COSMIC |
| 13 | g.110177875G>C | CA388667476 | COL4A1 | c.2683C>G (p.Pro895Ala) c.2491C>G (p.Pro831Ala) | |
| 13 | g.110177875G>T | CA388667474 | COL4A1 | c.2683C>A (p.Pro895Thr) c.2491C>A (p.Pro831Thr) | |
| 13 | g.110177876T>A | CA484980951 | COL4A1 | c.2682A>T (p.Gly894=) c.2490A>T (p.Gly830=) | |
| 13 | g.110177876T>C | CA484980954 | COL4A1 | c.2682A>G (p.Gly894=) c.2490A>G (p.Gly830=) | |
| 13 | g.110177876T>G | CA484980952 | COL4A1 | c.2682A>C (p.Gly894=) c.2490A>C (p.Gly830=) | |
| 13 | g.110177877C>A | CA388667478 | COL4A1 | c.2681G>T (p.Gly894Val) c.2489G>T (p.Gly830Val) | |
| 13 | g.110177877C>G | CA388667479 | COL4A1 | c.2681G>C (p.Gly894Ala) c.2489G>C (p.Gly830Ala) | |
| 13 | g.110177877C>T | CA388667480 | COL4A1 | c.2681G>A (p.Gly894Glu) c.2489G>A (p.Gly830Glu) | ClinVar |
| 13 | g.110177878C>A | CA388667483 | COL4A1 | c.2680G>T (p.Gly894Ter) c.2488G>T (p.Gly830Ter) | |
| 13 | g.110177878C>G | CA388667484 | COL4A1 | c.2680G>C (p.Gly894Arg) c.2488G>C (p.Gly830Arg) | |
| 13 | g.110177878C>T | CA388667486 | COL4A1 | c.2680G>A (p.Gly894Arg) c.2488G>A (p.Gly830Arg) | |
| 13 | g.110177879T>A | CA484980958 | COL4A1 | c.2679A>T (p.Pro893=) c.2487A>T (p.Pro829=) | |
| 13 | g.110177879T>C | CA484980959 | COL4A1 | c.2679A>G (p.Pro893=) c.2487A>G (p.Pro829=) | |
| 13 | g.110177879T>G | CA256255378 | COL4A1 | c.2679A>C (p.Pro893=) c.2487A>C (p.Pro829=) | dbSNP gnomAD v4 |
| 13 | g.110177879T= | CA2118731498 | COL4A1 | c.2679A= (p.Pro893=) c.2487A= (p.Pro829=) | |
| 13 | g.110177880G>A | CA388667487 | COL4A1 | c.2678C>T (p.Pro893Leu) c.2486C>T (p.Pro829Leu) | |
| 13 | g.110177880G>C | CA388667488 | COL4A1 | c.2678C>G (p.Pro893Arg) c.2486C>G (p.Pro829Arg) | |
| 13 | g.110177880G>T | CA388667489 | COL4A1 | c.2678C>A (p.Pro893Gln) c.2486C>A (p.Pro829Gln) | |
| 13 | g.110177881G>A | CA388667491 | COL4A1 | c.2677C>T (p.Pro893Ser) c.2485C>T (p.Pro829Ser) | |
| 13 | g.110177881G>C | CA388667492 | COL4A1 | c.2677C>G (p.Pro893Ala) c.2485C>G (p.Pro829Ala) | |
| 13 | g.110177881G>T | CA388667494 | COL4A1 | c.2677C>A (p.Pro893Thr) c.2485C>A (p.Pro829Thr) | |
| 13 | g.110177882T>A | CA484980964 | COL4A1 | c.2676A>T (p.Ser892=) c.2484A>T (p.Ser828=) | |
| 13 | g.110177882T>C | CA7047516 | COL4A1 | c.2676A>G (p.Ser892=) c.2484A>G (p.Ser828=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110177882T>G | CA484980967 | COL4A1 | c.2676A>C (p.Ser892=) c.2484A>C (p.Ser828=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177882T= | CA2118731502 | COL4A1 | c.2676A= (p.Ser892=) c.2484A= (p.Ser828=) | |
| 13 | g.110177883G>A | CA7047517 | COL4A1 | c.2675C>T (p.Ser892Leu) c.2483C>T (p.Ser828Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110177883G>C | CA388667497 | COL4A1 | c.2675C>G (p.Ser892Ter) c.2483C>G (p.Ser828Ter) | |
| 13 | g.110177883G= | CA2118731506 | COL4A1 | c.2675C= (p.Ser892=) c.2483C= (p.Ser828=) | |
| 13 | g.110177883G>T | CA388667499 | COL4A1 | c.2675C>A (p.Ser892Ter) c.2483C>A (p.Ser828Ter) | |
| 13 | g.110177884A>C | CA388667501 | COL4A1 | c.2674T>G (p.Ser892Ala) c.2482T>G (p.Ser828Ala) | |
| 13 | g.110177884A>G | CA388667502 | COL4A1 | c.2674T>C (p.Ser892Pro) c.2482T>C (p.Ser828Pro) | |
| 13 | g.110177884A>T | CA388667504 | COL4A1 | c.2674T>A (p.Ser892Thr) c.2482T>A (p.Ser828Thr) | |
| 13 | g.110177885G>A | CA484980972 | COL4A1 | c.2673C>T (p.Gly891=) c.2481C>T (p.Gly827=) | |
| 13 | g.110177885G>C | CA484980974 | COL4A1 | c.2673C>G (p.Gly891=) c.2481C>G (p.Gly827=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110177885G= | CA2118731511 | COL4A1 | c.2673C= (p.Gly891=) c.2481C= (p.Gly827=) | |
| 13 | g.110177885G>T | CA484980975 | COL4A1 | c.2673C>A (p.Gly891=) c.2481C>A (p.Gly827=) | |
| 13 | g.110177886C>A | CA388667507 | COL4A1 | c.2672G>T (p.Gly891Val) c.2480G>T (p.Gly827Val) | |
| 13 | g.110177886C= | CA2118731515 | COL4A1 | c.2672G= (p.Gly891=) c.2480G= (p.Gly827=) | |
| 13 | g.110177886C>G | CA388667508 | COL4A1 | c.2672G>C (p.Gly891Ala) c.2480G>C (p.Gly827Ala) | |
| 13 | g.110177886C>T | CA10603181 | COL4A1 | c.2672G>A (p.Gly891Asp) c.2480G>A (p.Gly827Asp) | ClinVar dbSNP |
| 13 | g.110177887C>A | CA388667512 | COL4A1 | c.2671G>T (p.Gly891Cys) c.2479G>T (p.Gly827Cys) | |
| 13 | g.110177887C>G | CA388667514 | COL4A1 | c.2671G>C (p.Gly891Arg) c.2479G>C (p.Gly827Arg) | |
| 13 | g.110177887C>T | CA388667516 | COL4A1 | c.2671G>A (p.Gly891Ser) c.2479G>A (p.Gly827Ser) | |
| 13 | g.110177888C>A | CA484980979 | COL4A1 | c.2670G>T (p.Pro890=) c.2478G>T (p.Pro826=) | gnomAD v4 |
| 13 | g.110177888C= | CA2118731519 | COL4A1 | c.2670G= (p.Pro890=) c.2478G= (p.Pro826=) | |
| 13 | g.110177888C>G | CA484980977 | COL4A1 | c.2670G>C (p.Pro890=) c.2478G>C (p.Pro826=) | |
| 13 | g.110177888C>T | CA7047518 | COL4A1 | c.2670G>A (p.Pro890=) c.2478G>A (p.Pro826=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177889G>A | CA7047519 | COL4A1 | c.2669C>T (p.Pro890Leu) c.2477C>T (p.Pro826Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177889G>C | CA388667519 | COL4A1 | c.2669C>G (p.Pro890Arg) c.2477C>G (p.Pro826Arg) | |
| 13 | g.110177889G= | CA2118731525 | COL4A1 | c.2669C= (p.Pro890=) c.2477C= (p.Pro826=) | |
| 13 | g.110177889G>T | CA388667521 | COL4A1 | c.2669C>A (p.Pro890Gln) c.2477C>A (p.Pro826Gln) | gnomAD v4 |
| 13 | g.110177890G>A | CA388667524 | COL4A1 | c.2668C>T (p.Pro890Ser) c.2476C>T (p.Pro826Ser) | gnomAD v4 |
| 13 | g.110177890G>C | CA388667526 | COL4A1 | c.2668C>G (p.Pro890Ala) c.2476C>G (p.Pro826Ala) | gnomAD v4 |
| 13 | g.110177890G>T | CA388667527 | COL4A1 | c.2668C>A (p.Pro890Thr) c.2476C>A (p.Pro826Thr) | |
| 13 | g.110177891C>A | CA388667529 | COL4A1 | c.2667G>T (p.Gln889His) c.2475G>T (p.Gln825His) | |
| 13 | g.110177891C>G | CA388667531 | COL4A1 | c.2667G>C (p.Gln889His) c.2475G>C (p.Gln825His) | |
| 13 | g.110177891C>T | CA484980983 | COL4A1 | c.2667G>A (p.Gln889=) c.2475G>A (p.Gln825=) | |
| 13 | g.110177892T>A | CA388667533 | COL4A1 | c.2666A>T (p.Gln889Leu) c.2474A>T (p.Gln825Leu) | |
| 13 | g.110177892T>C | CA388667535 | COL4A1 | c.2666A>G (p.Gln889Arg) c.2474A>G (p.Gln825Arg) | |
| 13 | g.110177892T>G | CA388667537 | COL4A1 | c.2666A>C (p.Gln889Pro) c.2474A>C (p.Gln825Pro) | |
| 13 | g.110177893G>A | CA388667539 | COL4A1 | c.2665C>T (p.Gln889Ter) c.2473C>T (p.Gln825Ter) | COSMIC COSMIC |
| 13 | g.110177893G>C | CA388667541 | COL4A1 | c.2665C>G (p.Gln889Glu) c.2473C>G (p.Gln825Glu) | |
| 13 | g.110177893G= | CA2118731532 | COL4A1 | c.2665C= (p.Gln889=) c.2473C= (p.Gln825=) | |
| 13 | g.110177893G>T | CA388667543 | COL4A1 | c.2665C>A (p.Gln889Lys) c.2473C>A (p.Gln825Lys) | gnomAD v4 |
| 13 | g.110177894C>A | CA484980987 | COL4A1 | c.2664G>T (p.Gly888=) c.2472G>T (p.Gly824=) | |
| 13 | g.110177894C>G | CA484980988 | COL4A1 | c.2664G>C (p.Gly888=) c.2472G>C (p.Gly824=) | |
| 13 | g.110177894C>T | CA484980989 | COL4A1 | c.2664G>A (p.Gly888=) c.2472G>A (p.Gly824=) | |
| 13 | g.110177896dup | CA256255395 | COL4A1 | c.2664dup (p.Gln889AlafsTer16) c.2472dup (p.Gln825AlafsTer16) | dbSNP |
| 13 | g.110177895C>A | CA388667545 | COL4A1 | c.2663G>T (p.Gly888Val) c.2471G>T (p.Gly824Val) | |
| 13 | g.110177895C>G | CA388667547 | COL4A1 | c.2663G>C (p.Gly888Ala) c.2471G>C (p.Gly824Ala) | |
| 13 | g.110177895C>T | CA388667549 | COL4A1 | c.2663G>A (p.Gly888Glu) c.2471G>A (p.Gly824Glu) | |
| 13 | g.110177896C>A | CA388667551 | COL4A1 | c.2662G>T (p.Gly888Trp) c.2470G>T (p.Gly824Trp) | |
| 13 | g.110177896C= | CA2118731536 | COL4A1 | c.2662G= (p.Gly888=) c.2470G= (p.Gly824=) | |
| 13 | g.110177896C>G | CA388667554 | COL4A1 | c.2662G>C (p.Gly888Arg) c.2470G>C (p.Gly824Arg) | |
| 13 | g.110177896C>T | CA276133 | COL4A1 | c.2662G>A (p.Gly888Arg) c.2470G>A (p.Gly824Arg) | ClinVar dbSNP |
| 13 | g.110177897G>A | CA7047520 | COL4A1 | c.2661C>T (p.Pro887=) c.2469C>T (p.Pro823=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.110177897G>C | CA484980991 | COL4A1 | c.2661C>G (p.Pro887=) c.2469C>G (p.Pro823=) | |
| 13 | g.110177897G= | CA2118731541 | COL4A1 | c.2661C= (p.Pro887=) c.2469C= (p.Pro823=) | |
| 13 | g.110177897G>T | CA484980990 | COL4A1 | c.2661C>A (p.Pro887=) c.2469C>A (p.Pro823=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177901dup | CA2800581218 | COL4A1 | c.2661dup (p.Gly888ArgfsTer17) c.2469dup (p.Gly824ArgfsTer17) | |
| 13 | g.110177901del | CA2562438915 | COL4A1 | c.2661del (p.Gln889SerfsTer?) c.2469del (p.Gln825SerfsTer?) | |
| 13 | g.110177898G>A | CA388667559 | COL4A1 | c.2660C>T (p.Pro887Leu) c.2468C>T (p.Pro823Leu) | gnomAD v4 |
| 13 | g.110177898G>C | CA388667560 | COL4A1 | c.2660C>G (p.Pro887Arg) c.2468C>G (p.Pro823Arg) | |
| 13 | g.110177898G>T | CA388667562 | COL4A1 | c.2660C>A (p.Pro887His) c.2468C>A (p.Pro823His) | |
| 13 | g.110177899G>A | CA16606627 | COL4A1 | c.2659C>T (p.Pro887Ser) c.2467C>T (p.Pro823Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177899G>C | CA388667565 | COL4A1 | c.2659C>G (p.Pro887Ala) c.2467C>G (p.Pro823Ala) | |
| 13 | g.110177899G= | CA2118731547 | COL4A1 | c.2659C= (p.Pro887=) c.2467C= (p.Pro823=) | |
| 13 | g.110177899G>T | CA388667567 | COL4A1 | c.2659C>A (p.Pro887Thr) c.2467C>A (p.Pro823Thr) | gnomAD v4 |
| 13 | g.110177900G>A | CA484980996 | COL4A1 | c.2658C>T (p.Thr886=) c.2466C>T (p.Thr822=) | ClinVar dbSNP |
| 13 | g.110177900G>C | CA484980997 | COL4A1 | c.2658C>G (p.Thr886=) c.2466C>G (p.Thr822=) | |
| 13 | g.110177900G>T | CA484980998 | COL4A1 | c.2658C>A (p.Thr886=) c.2466C>A (p.Thr822=) | gnomAD v4 |
| 13 | g.110177901G>A | CA256255408 | COL4A1 | c.2657C>T (p.Thr886Ile) c.2465C>T (p.Thr822Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177901G>C | CA388667572 | COL4A1 | c.2657C>G (p.Thr886Ser) c.2465C>G (p.Thr822Ser) | |
| 13 | g.110177901G= | CA2118731553 | COL4A1 | c.2657C= (p.Thr886=) c.2465C= (p.Thr822=) | |
| 13 | g.110177901G>T | CA7047521 | COL4A1 | c.2657C>A (p.Thr886Asn) c.2465C>A (p.Thr822Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177902T>A | CA388667574 | COL4A1 | c.2656A>T (p.Thr886Ser) c.2464A>T (p.Thr822Ser) | |
| 13 | g.110177902T>C | CA388667576 | COL4A1 | c.2656A>G (p.Thr886Ala) c.2464A>G (p.Thr822Ala) | |
| 13 | g.110177902T>G | CA388667578 | COL4A1 | c.2656A>C (p.Thr886Pro) c.2464A>C (p.Thr822Pro) | dbSNP |
| 13 | g.110177902T= | CA2118731559 | COL4A1 | c.2656A= (p.Thr886=) c.2464A= (p.Thr822=) | |
| 13 | g.110177903C>A | CA484981000 | COL4A1 | c.2655G>T (p.Gly885=) c.2463G>T (p.Gly821=) | gnomAD v4 |
| 13 | g.110177903C= | CA2118731561 | COL4A1 | c.2655G= (p.Gly885=) c.2463G= (p.Gly821=) | |
| 13 | g.110177903C>G | CA484981003 | COL4A1 | c.2655G>C (p.Gly885=) c.2463G>C (p.Gly821=) | ClinVar |
| 13 | g.110177903C>T | CA256255414 | COL4A1 | c.2655G>A (p.Gly885=) c.2463G>A (p.Gly821=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110177906del | CA2573149442 | COL4A1 | c.2655del (p.Thr886ProfsTer?) c.2463del (p.Thr822ProfsTer?) | ClinVar dbSNP |
| 13 | g.110177904C>A | CA388667580 | COL4A1 | c.2654G>T (p.Gly885Val) c.2462G>T (p.Gly821Val) | |
| 13 | g.110177904C>G | CA388667582 | COL4A1 | c.2654G>C (p.Gly885Ala) c.2462G>C (p.Gly821Ala) | |
| 13 | g.110177904C>T | CA388667584 | COL4A1 | c.2654G>A (p.Gly885Glu) c.2462G>A (p.Gly821Glu) | COSMIC COSMIC |
| 13 | g.110177905C>A | CA388667586 | COL4A1 | c.2653G>T (p.Gly885Trp) c.2461G>T (p.Gly821Trp) | |
| 13 | g.110177905C>G | CA388667588 | COL4A1 | c.2653G>C (p.Gly885Arg) c.2461G>C (p.Gly821Arg) | |
| 13 | g.110177905C>T | CA388667589 | COL4A1 | c.2653G>A (p.Gly885Arg) c.2461G>A (p.Gly821Arg) | |
| 13 | g.110177906C>A | CA388667592 | COL4A1 | c.2652G>T (p.Met884Ile) c.2460G>T (p.Met820Ile) | |
| 13 | g.110177906C>G | CA388667594 | COL4A1 | c.2652G>C (p.Met884Ile) c.2460G>C (p.Met820Ile) | |
| 13 | g.110177906C>T | CA388667596 | COL4A1 | c.2652G>A (p.Met884Ile) c.2460G>A (p.Met820Ile) | COSMIC COSMIC |
| 13 | g.110177907A>C | CA388667602 | COL4A1 | c.2651T>G (p.Met884Arg) c.2459T>G (p.Met820Arg) | |
| 13 | g.110177907A>G | CA388667600 | COL4A1 | c.2651T>C (p.Met884Thr) c.2459T>C (p.Met820Thr) | |
| 13 | g.110177907A>T | CA388667598 | COL4A1 | c.2651T>A (p.Met884Lys) c.2459T>A (p.Met820Lys) | |
| 13 | g.110177908T>A | CA388667604 | COL4A1 | c.2650A>T (p.Met884Leu) c.2458A>T (p.Met820Leu) | |
| 13 | g.110177908T>C | CA388667606 | COL4A1 | c.2650A>G (p.Met884Val) c.2458A>G (p.Met820Val) | dbSNP |
| 13 | g.110177908T>G | CA388667608 | COL4A1 | c.2650A>C (p.Met884Leu) c.2458A>C (p.Met820Leu) | dbSNP |
| 13 | g.110177908T= | CA2118731563 | COL4A1 | c.2650A= (p.Met884=) c.2458A= (p.Met820=) | |
| 13 | g.110177909G>A | CA484981013 | COL4A1 | c.2649C>T (p.Val883=) c.2457C>T (p.Val819=) | |
| 13 | g.110177909G>C | CA484981014 | COL4A1 | c.2649C>G (p.Val883=) c.2457C>G (p.Val819=) | |
| 13 | g.110177909G>T | CA484981015 | COL4A1 | c.2649C>A (p.Val883=) c.2457C>A (p.Val819=) | |
| 13 | g.110177910A>C | CA388667610 | COL4A1 | c.2648T>G (p.Val883Gly) c.2456T>G (p.Val819Gly) | |
| 13 | g.110177910A>G | CA388667612 | COL4A1 | c.2648T>C (p.Val883Ala) c.2456T>C (p.Val819Ala) | |
| 13 | g.110177910A>T | CA388667614 | COL4A1 | c.2648T>A (p.Val883Asp) c.2456T>A (p.Val819Asp) | |
| 13 | g.110177911C>A | CA388667616 | COL4A1 | c.2647G>T (p.Val883Phe) c.2455G>T (p.Val819Phe) | ClinVar dbSNP |
| 13 | g.110177911C= | CA2118731567 | COL4A1 | c.2647G= (p.Val883=) c.2455G= (p.Val819=) | |
| 13 | g.110177911C>G | CA388667618 | COL4A1 | c.2647G>C (p.Val883Leu) c.2455G>C (p.Val819Leu) | |
| 13 | g.110177911C>T | CA7047522 | COL4A1 | c.2647G>A (p.Val883Ile) c.2455G>A (p.Val819Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.110177912G>A | CA7047523 | COL4A1 | c.2646C>T (p.Gly882=) c.2454C>T (p.Gly818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177912G>C | CA484981019 | COL4A1 | c.2646C>G (p.Gly882=) c.2454C>G (p.Gly818=) | |
| 13 | g.110177912G= | CA2118731573 | COL4A1 | c.2646C= (p.Gly882=) c.2454C= (p.Gly818=) | |
| 13 | g.110177912G>T | CA7047524 | COL4A1 | c.2646C>A (p.Gly882=) c.2454C>A (p.Gly818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110177912_110177913delinsTT | CA2695218977 | COL4A1 | c.2645_2646delinsAA (p.Gly882Glu) c.2453_2454delinsAA (p.Gly818Glu) | |
| 13 | g.110177913C>A | CA388667622 | COL4A1 | c.2645G>T (p.Gly882Val) c.2453G>T (p.Gly818Val) | |
| 13 | g.110177913C>G | CA388667623 | COL4A1 | c.2645G>C (p.Gly882Ala) c.2453G>C (p.Gly818Ala) | |
| 13 | g.110177913C>T | CA388667624 | COL4A1 | c.2645G>A (p.Gly882Asp) c.2453G>A (p.Gly818Asp) | |
| 13 | g.110177914C>A | CA388667628 | COL4A1 | c.2644G>T (p.Gly882Cys) c.2452G>T (p.Gly818Cys) | ClinVar |
| 13 | g.110177914C>G | CA388667630 | COL4A1 | c.2644G>C (p.Gly882Arg) c.2452G>C (p.Gly818Arg) | |
| 13 | g.110177914C>T | CA388667627 | COL4A1 | c.2644G>A (p.Gly882Ser) c.2452G>A (p.Gly818Ser) | |
| 13 | g.110177915C>A | CA388667632 | COL4A1 | c.2643G>T (p.Met881Ile) c.2451G>T (p.Met817Ile) | |
| 13 | g.110177915C>G | CA388667634 | COL4A1 | c.2643G>C (p.Met881Ile) c.2451G>C (p.Met817Ile) | gnomAD v4 |
| 13 | g.110177915C>T | CA388667636 | COL4A1 | c.2643G>A (p.Met881Ile) c.2451G>A (p.Met817Ile) | |
| 13 | g.110177916A>C | CA388667638 | COL4A1 | c.2642T>G (p.Met881Arg) c.2450T>G (p.Met817Arg) | |
| 13 | g.110177916A>G | CA388667640 | COL4A1 | c.2642T>C (p.Met881Thr) c.2450T>C (p.Met817Thr) | |
| 13 | g.110177916A>T | CA388667642 | COL4A1 | c.2642T>A (p.Met881Lys) c.2450T>A (p.Met817Lys) | |
| 13 | g.110177917T>A | CA388667647 | COL4A1 | c.2641A>T (p.Met881Leu) c.2449A>T (p.Met817Leu) | |
| 13 | g.110177917T>C | CA7047525 | COL4A1 | c.2641A>G (p.Met881Val) c.2449A>G (p.Met817Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110177917T>G | CA388667645 | COL4A1 | c.2641A>C (p.Met881Leu) c.2449A>C (p.Met817Leu) | gnomAD v4 |
| 13 | g.110177917T= | CA2118731575 | COL4A1 | c.2641A= (p.Met881=) c.2449A= (p.Met817=) | |
| 13 | g.110177918T>A | CA388667649 | COL4A1 | c.2640A>T (p.Glu880Asp) c.2448A>T (p.Glu816Asp) | |
| 13 | g.110177918T>C | CA484981020 | COL4A1 | c.2640A>G (p.Glu880=) c.2448A>G (p.Glu816=) | |
| 13 | g.110177918T>G | CA388667650 | COL4A1 | c.2640A>C (p.Glu880Asp) c.2448A>C (p.Glu816Asp) | |
| 13 | g.110177919T>A | CA388667653 | COL4A1 | c.2639A>T (p.Glu880Val) c.2447A>T (p.Glu816Val) | |
| 13 | g.110177919T>C | CA388667654 | COL4A1 | c.2639A>G (p.Glu880Gly) c.2447A>G (p.Glu816Gly) | |
| 13 | g.110177919T>G | CA388667656 | COL4A1 | c.2639A>C (p.Glu880Ala) c.2447A>C (p.Glu816Ala) | |
| 13 | g.110177920C>A | CA388667658 | COL4A1 | c.2638G>T (p.Glu880Ter) c.2446G>T (p.Glu816Ter) | |
| 13 | g.110177920C= | CA2118731578 | COL4A1 | c.2638G= (p.Glu880=) c.2446G= (p.Glu816=) | |
| 13 | g.110177920C>G | CA256255424 | COL4A1 | c.2638G>C (p.Glu880Gln) c.2446G>C (p.Glu816Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110177920C>T | CA388667660 | COL4A1 | c.2638G>A (p.Glu880Lys) c.2446G>A (p.Glu816Lys) | |
| 13 | g.110177921T>A | CA484981021 | COL4A1 | c.2637A>T (p.Gly879=) c.2445A>T (p.Gly815=) | |
| 13 | g.110177921T>C | CA484981023 | COL4A1 | c.2637A>G (p.Gly879=) c.2445A>G (p.Gly815=) | |
| 13 | g.110177921T>G | CA484981022 | COL4A1 | c.2637A>C (p.Gly879=) c.2445A>C (p.Gly815=) | |
| 13 | g.110177922C>A | CA388667663 | COL4A1 | c.2636G>T (p.Gly879Val) c.2444G>T (p.Gly815Val) | |
| 13 | g.110177922C>G | CA388667665 | COL4A1 | c.2636G>C (p.Gly879Ala) c.2444G>C (p.Gly815Ala) | ClinVar dbSNP |
| 13 | g.110177922C>T | CA388667667 | COL4A1 | c.2636G>A (p.Gly879Glu) c.2444G>A (p.Gly815Glu) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.110177924del | CA484981024 | COL4A1 | c.2636del (p.Gly879GlufsTer?) c.2444del (p.Gly815GlufsTer?) | COSMIC COSMIC |
| 13 | g.110177923C>A | CA388667669 | COL4A1 | c.2635G>T (p.Gly879Ter) c.2443G>T (p.Gly815Ter) | |
| 13 | g.110177923C>G | CA388667671 | COL4A1 | c.2635G>C (p.Gly879Arg) c.2443G>C (p.Gly815Arg) | |
| 13 | g.110177923C>T | CA388667673 | COL4A1 | c.2635G>A (p.Gly879Arg) c.2443G>A (p.Gly815Arg) | |
| 13 | g.110177924C>A | CA388667675 | COL4A1 | c.2634G>T (p.Lys878Asn) c.2442G>T (p.Lys814Asn) | |
| 13 | g.110177924C>G | CA388667677 | COL4A1 | c.2634G>C (p.Lys878Asn) c.2442G>C (p.Lys814Asn) | |
| 13 | g.110177924C>T | CA484981025 | COL4A1 | c.2634G>A (p.Lys878=) c.2442G>A (p.Lys814=) | |
| 13 | g.110177925T>A | CA388667680 | COL4A1 | c.2633A>T (p.Lys878Met) c.2441A>T (p.Lys814Met) | |
| 13 | g.110177925T>C | CA388667681 | COL4A1 | c.2633A>G (p.Lys878Arg) c.2441A>G (p.Lys814Arg) | |
| 13 | g.110177925T>G | CA388667683 | COL4A1 | c.2633A>C (p.Lys878Thr) c.2441A>C (p.Lys814Thr) | |
| 13 | g.110177926T>A | CA388667687 | COL4A1 | c.2632A>T (p.Lys878Ter) c.2440A>T (p.Lys814Ter) | |
| 13 | g.110177926T>C | CA388667688 | COL4A1 | c.2632A>G (p.Lys878Glu) c.2440A>G (p.Lys814Glu) | |
| 13 | g.110177926T>G | CA388667686 | COL4A1 | c.2632A>C (p.Lys878Gln) c.2440A>C (p.Lys814Gln) | |
| 13 | g.110177927G>A | CA484981026 | COL4A1 | c.2631C>T (p.Ser877=) c.2439C>T (p.Ser813=) | |
| 13 | g.110177927G>C | CA484981027 | COL4A1 | c.2631C>G (p.Ser877=) c.2439C>G (p.Ser813=) | |
| 13 | g.110177927G>T | CA484981028 | COL4A1 | c.2631C>A (p.Ser877=) c.2439C>A (p.Ser813=) | |
| 13 | g.110177928G>A | CA388667690 | COL4A1 | c.2630C>T (p.Ser877Phe) c.2438C>T (p.Ser813Phe) | |
| 13 | g.110177928G>C | CA388667689 | COL4A1 | c.2630C>G (p.Ser877Cys) c.2438C>G (p.Ser813Cys) | |
| 13 | g.110177928G>T | CA388667691 | COL4A1 | c.2630C>A (p.Ser877Tyr) c.2438C>A (p.Ser813Tyr) | |
| 13 | g.110177929A>C | CA388667692 | COL4A1 | c.2629T>G (p.Ser877Ala) c.2437T>G (p.Ser813Ala) | |
| 13 | g.110177929A>G | CA388667693 | COL4A1 | c.2629T>C (p.Ser877Pro) c.2437T>C (p.Ser813Pro) | gnomAD v4 |
| 13 | g.110177929A>T | CA388667694 | COL4A1 | c.2629T>A (p.Ser877Thr) c.2437T>A (p.Ser813Thr) | |
| 13 | g.110177930A= | CA2118731581 | COL4A1 | c.2628T= (p.Gly876=) c.2436T= (p.Gly812=) | |
| 13 | g.110177930A>C | CA484981029 | COL4A1 | c.2628T>G (p.Gly876=) c.2436T>G (p.Gly812=) | |
| 13 | g.110177930A>G | CA484981030 | COL4A1 | c.2628T>C (p.Gly876=) c.2436T>C (p.Gly812=) | |
| 13 | g.110177930A>T | CA484981031 | COL4A1 | c.2628T>A (p.Gly876=) c.2436T>A (p.Gly812=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177931C>A | CA388667695 | COL4A1 | c.2627G>T (p.Gly876Val) c.2435G>T (p.Gly812Val) | |
| 13 | g.110177931C>G | CA388667696 | COL4A1 | c.2627G>C (p.Gly876Ala) c.2435G>C (p.Gly812Ala) | |
| 13 | g.110177931C>T | CA388667697 | COL4A1 | c.2627G>A (p.Gly876Asp) c.2435G>A (p.Gly812Asp) | |
| 13 | g.110177932C>A | CA388667698 | COL4A1 | c.2627-1G>T (n.2627-1G>T) c.2435-1G>T (n.2435-1G>T) | |
| 13 | g.110177932C= | CA2118731583 | COL4A1 | c.2627-1G= (n.2627-1G=) c.2435-1G= (n.2435-1G=) | |
| 13 | g.110177932C>G | CA388667699 | COL4A1 | c.2627-1G>C (n.2627-1G>C) c.2435-1G>C (n.2435-1G>C) | |
| 13 | g.110177932C>T | CA16619612 | COL4A1 | c.2627-1G>A (n.2627-1G>A) c.2435-1G>A (n.2435-1G>A) | ClinVar dbSNP |
| 13 | g.110177933T>A | CA388667700 | COL4A1 | c.2627-2A>T (n.2627-2A>T) c.2435-2A>T (n.2435-2A>T) | |
| 13 | g.110177933T>C | CA388667701 | COL4A1 | c.2627-2A>G (n.2627-2A>G) c.2435-2A>G (n.2435-2A>G) | |
| 13 | g.110177933T>G | CA388667702 | COL4A1 | c.2627-2A>C (n.2627-2A>C) c.2435-2A>C (n.2435-2A>C) | |
| 13 | g.110177934G>A | CA7047526 | COL4A1 | c.2627-3C>T (n.2627-3C>T) c.2435-3C>T (n.2435-3C>T) | dbSNP ExAC gnomAD v2 |
| 13 | g.110177934G= | CA2118731586 | COL4A1 | c.2627-3C= (n.2627-3C=) c.2435-3C= (n.2435-3C=) | |
| 13 | g.110177934G>T | CA2800581219 | COL4A1 | c.2627-3C>A (n.2627-3C>A) c.2435-3C>A (n.2435-3C>A) | |
| 13 | g.110177934_110177935delinsGT | CA2118731587 | COL4A1 | c.2627-4_2627-3delinsAC (n.2627-4_2627-3delinsAC) c.2435-4_2435-3delinsAC (n.2435-4_2435-3delinsAC) | |
| 13 | g.110177935del | CA256255428 | COL4A1 | c.2627-4del (n.2627-4del) c.2435-4del (n.2435-4del) | dbSNP |
| 13 | g.110177935T>C | CA2520891022 | COL4A1 | c.2627-4A>G (n.2627-4A>G) c.2435-4A>G (n.2435-4A>G) | gnomAD v4 |
| 13 | g.110177935dup | CA612866194 | COL4A1 | c.2627-4dup (n.2627-4dup) c.2435-4dup (n.2435-4dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110177937G>A | CA2118731593 | COL4A1 | c.2627-6C>T (n.2627-6C>T) c.2435-6C>T (n.2435-6C>T) | dbSNP gnomAD v4 |
| 13 | g.110177937G= | CA2118731592 | COL4A1 | c.2627-6C= (n.2627-6C=) c.2435-6C= (n.2435-6C=) | |
| 13 | g.110177938C= | CA2118731596 | COL4A1 | c.2627-7G= (n.2627-7G=) c.2435-7G= (n.2435-7G=) | |
| 13 | g.110177938C>T | CA694995992 | COL4A1 | c.2627-7G>A (n.2627-7G>A) c.2435-7G>A (n.2435-7G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110177940A= | CA2118731598 | COL4A1 | c.2627-9T= (n.2627-9T=) c.2435-9T= (n.2435-9T=) | |
| 13 | g.110177940A>G | CA256255431 | COL4A1 | c.2627-9T>C (n.2627-9T>C) c.2435-9T>C (n.2435-9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110177942A= | CA2118731600 | COL4A1 | c.2627-11T= (n.2627-11T=) c.2435-11T= (n.2435-11T=) | |
| 13 | g.110177942A>G | CA694995994 | COL4A1 | c.2627-11T>C (n.2627-11T>C) c.2435-11T>C (n.2435-11T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110177943G>A | CA2623674047 | COL4A1 | c.2627-12C>T (n.2627-12C>T) c.2435-12C>T (n.2435-12C>T) | gnomAD v4 |
| 13 | g.110177946A= | CA2118731603 | COL4A1 | c.2627-15T= (n.2627-15T=) c.2435-15T= (n.2435-15T=) | |
| 13 | g.110177946A>G | CA612866195 | COL4A1 | c.2627-15T>C (n.2627-15T>C) c.2435-15T>C (n.2435-15T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |