| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110179270C>A | CA388668519 | COL4A1 | c.2344+1G>T (n.2344+1G>T) n.2474+1G>T c.2152+1G>T (n.2152+1G>T) | |
| 13 | g.110179270C>G | CA388668520 | COL4A1 | c.2344+1G>C (n.2344+1G>C) n.2474+1G>C c.2152+1G>C (n.2152+1G>C) | |
| 13 | g.110179270C>T | CA388668521 | COL4A1 | c.2344+1G>A (n.2344+1G>A) n.2474+1G>A c.2152+1G>A (n.2152+1G>A) | |
| 13 | g.110179271C>A | CA388668522 | COL4A1 | c.2344G>T (p.Gly782Cys) n.2474G>T c.2152G>T (p.Gly718Cys) | |
| 13 | g.110179271C>G | CA388668523 | COL4A1 | c.2344G>C (p.Gly782Arg) n.2474G>C c.2152G>C (p.Gly718Arg) | |
| 13 | g.110179271C>T | CA388668524 | COL4A1 | c.2344G>A (p.Gly782Ser) n.2474G>A c.2152G>A (p.Gly718Ser) | |
| 13 | g.110179272T>A | CA388668526 | COL4A1 | c.2343A>T (p.Arg781Ser) n.2473A>T c.2151A>T (p.Arg717Ser) | |
| 13 | g.110179272T>C | CA484981146 | COL4A1 | c.2343A>G (p.Arg781=) n.2473A>G c.2151A>G (p.Arg717=) | |
| 13 | g.110179272T>G | CA388668525 | COL4A1 | c.2343A>C (p.Arg781Ser) n.2473A>C c.2151A>C (p.Arg717Ser) | |
| 13 | g.110179273C>A | CA388668527 | COL4A1 | c.2342G>T (p.Arg781Ile) n.2472G>T c.2150G>T (p.Arg717Ile) | COSMIC |
| 13 | g.110179273C>G | CA388668528 | COL4A1 | c.2342G>C (p.Arg781Thr) n.2472G>C c.2150G>C (p.Arg717Thr) | |
| 13 | g.110179273C>T | CA388668529 | COL4A1 | c.2342G>A (p.Arg781Lys) n.2472G>A c.2150G>A (p.Arg717Lys) | |
| 13 | g.110179274T>A | CA388668530 | COL4A1 | c.2341A>T (p.Arg781Ter) n.2471A>T c.2149A>T (p.Arg717Ter) | |
| 13 | g.110179274T>C | CA388668531 | COL4A1 | c.2341A>G (p.Arg781Gly) n.2471A>G c.2149A>G (p.Arg717Gly) | dbSNP gnomAD v2 |
| 13 | g.110179274T>G | CA484981150 | COL4A1 | c.2341A>C (p.Arg781=) n.2471A>C c.2149A>C (p.Arg717=) | |
| 13 | g.110179274T= | CA2118732829 | COL4A1 | c.2341A= (p.Arg781=) n.2471A= c.2149A= (p.Arg717=) | |
| 13 | g.110179275G>A | CA484981151 | COL4A1 | c.2340C>T (p.Ile780=) n.2470C>T c.2148C>T (p.Ile716=) | gnomAD v4 |
| 13 | g.110179275G>C | CA388668532 | COL4A1 | c.2340C>G (p.Ile780Met) n.2470C>G c.2148C>G (p.Ile716Met) | |
| 13 | g.110179275G>T | CA484981153 | COL4A1 | c.2340C>A (p.Ile780=) n.2470C>A c.2148C>A (p.Ile716=) | |
| 13 | g.110179276A>C | CA388668533 | COL4A1 | c.2339T>G (p.Ile780Ser) n.2469T>G c.2147T>G (p.Ile716Ser) | |
| 13 | g.110179276A>G | CA388668534 | COL4A1 | c.2339T>C (p.Ile780Thr) n.2469T>C c.2147T>C (p.Ile716Thr) | |
| 13 | g.110179276A>T | CA388668535 | COL4A1 | c.2339T>A (p.Ile780Asn) n.2469T>A c.2147T>A (p.Ile716Asn) | |
| 13 | g.110179277T>A | CA388668536 | COL4A1 | c.2338A>T (p.Ile780Phe) n.2468A>T c.2146A>T (p.Ile716Phe) | |
| 13 | g.110179277T>C | CA388668537 | COL4A1 | c.2338A>G (p.Ile780Val) n.2468A>G c.2146A>G (p.Ile716Val) | |
| 13 | g.110179277T>G | CA388668538 | COL4A1 | c.2338A>C (p.Ile780Leu) n.2468A>C c.2146A>C (p.Ile716Leu) | |
| 13 | g.110179278C>A | CA484981156 | COL4A1 | c.2337G>T (p.Gly779=) n.2467G>T c.2145G>T (p.Gly715=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110179278C= | CA2118732831 | COL4A1 | c.2337G= (p.Gly779=) n.2467G= c.2145G= (p.Gly715=) | |
| 13 | g.110179278C>G | CA484981157 | COL4A1 | c.2337G>C (p.Gly779=) n.2467G>C c.2145G>C (p.Gly715=) | dbSNP gnomAD v4 |
| 13 | g.110179278C>T | CA7047637 | COL4A1 | c.2337G>A (p.Gly779=) n.2467G>A c.2145G>A (p.Gly715=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179281del | CA2573053775 | COL4A1 | c.2337del (p.Ile780SerfsTer22) n.2467del c.2145del (p.Ile716SerfsTer22) | ClinVar dbSNP |
| 13 | g.110179279C>A | CA388668541 | COL4A1 | c.2336G>T (p.Gly779Val) n.2466G>T c.2144G>T (p.Gly715Val) | |
| 13 | g.110179279C>G | CA388668540 | COL4A1 | c.2336G>C (p.Gly779Ala) n.2466G>C c.2144G>C (p.Gly715Ala) | |
| 13 | g.110179279C>T | CA388668539 | COL4A1 | c.2336G>A (p.Gly779Glu) n.2466G>A c.2144G>A (p.Gly715Glu) | |
| 13 | g.110179280C>A | CA388668544 | COL4A1 | c.2335G>T (p.Gly779Trp) n.2465G>T c.2143G>T (p.Gly715Trp) | |
| 13 | g.110179280C>G | CA388668542 | COL4A1 | c.2335G>C (p.Gly779Arg) n.2465G>C c.2143G>C (p.Gly715Arg) | |
| 13 | g.110179280C>T | CA388668543 | COL4A1 | c.2335G>A (p.Gly779Arg) n.2465G>A c.2143G>A (p.Gly715Arg) | |
| 13 | g.110179281C>A | CA388668545 | COL4A1 | c.2334G>T (p.Gln778His) n.2464G>T c.2142G>T (p.Gln714His) | |
| 13 | g.110179281C>G | CA388668546 | COL4A1 | c.2334G>C (p.Gln778His) n.2464G>C c.2142G>C (p.Gln714His) | |
| 13 | g.110179281C>T | CA484981163 | COL4A1 | c.2334G>A (p.Gln778=) n.2464G>A c.2142G>A (p.Gln714=) | |
| 13 | g.110179282T>A | CA388668547 | COL4A1 | c.2333A>T (p.Gln778Leu) n.2463A>T c.2141A>T (p.Gln714Leu) | |
| 13 | g.110179282T>C | CA7047638 | COL4A1 | c.2333A>G (p.Gln778Arg) n.2463A>G c.2141A>G (p.Gln714Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179282T>G | CA388668548 | COL4A1 | c.2333A>C (p.Gln778Pro) n.2463A>C c.2141A>C (p.Gln714Pro) | |
| 13 | g.110179282T= | CA2118732833 | COL4A1 | c.2333A= (p.Gln778=) n.2463A= c.2141A= (p.Gln714=) | |
| 13 | g.110179283G>A | CA388668549 | COL4A1 | c.2332C>T (p.Gln778Ter) n.2462C>T c.2140C>T (p.Gln714Ter) | |
| 13 | g.110179283G>C | CA388668550 | COL4A1 | c.2332C>G (p.Gln778Glu) n.2462C>G c.2140C>G (p.Gln714Glu) | dbSNP gnomAD v2 |
| 13 | g.110179283G= | CA2118732836 | COL4A1 | c.2332C= (p.Gln778=) n.2462C= c.2140C= (p.Gln714=) | |
| 13 | g.110179283G>T | CA388668551 | COL4A1 | c.2332C>A (p.Gln778Lys) n.2462C>A c.2140C>A (p.Gln714Lys) | |
| 13 | g.110179284A>C | CA484981167 | COL4A1 | c.2331T>G (p.Leu777=) n.2461T>G c.2139T>G (p.Leu713=) | |
| 13 | g.110179284A>G | CA484981168 | COL4A1 | c.2331T>C (p.Leu777=) n.2461T>C c.2139T>C (p.Leu713=) | gnomAD v4 |
| 13 | g.110179284A>T | CA484981169 | COL4A1 | c.2331T>A (p.Leu777=) n.2461T>A c.2139T>A (p.Leu713=) | |
| 13 | g.110179285A= | CA2118732837 | COL4A1 | c.2330T= (p.Leu777=) n.2460T= c.2138T= (p.Leu713=) | |
| 13 | g.110179285A>C | CA388668552 | COL4A1 | c.2330T>G (p.Leu777Arg) n.2460T>G c.2138T>G (p.Leu713Arg) | dbSNP gnomAD v4 |
| 13 | g.110179285A>G | CA388668553 | COL4A1 | c.2330T>C (p.Leu777Pro) n.2460T>C c.2138T>C (p.Leu713Pro) | ClinVar gnomAD v4 |
| 13 | g.110179285A>T | CA388668554 | COL4A1 | c.2330T>A (p.Leu777His) n.2460T>A c.2138T>A (p.Leu713His) | |
| 13 | g.110179286G>A | CA388668557 | COL4A1 | c.2329C>T (p.Leu777Phe) n.2459C>T c.2137C>T (p.Leu713Phe) | gnomAD v4 |
| 13 | g.110179286G>C | CA388668555 | COL4A1 | c.2329C>G (p.Leu777Val) n.2459C>G c.2137C>G (p.Leu713Val) | gnomAD v4 |
| 13 | g.110179286G>T | CA388668556 | COL4A1 | c.2329C>A (p.Leu777Ile) n.2459C>A c.2137C>A (p.Leu713Ile) | |
| 13 | g.110179287C>A | CA484981175 | COL4A1 | c.2328G>T (p.Gly776=) n.2458G>T c.2136G>T (p.Gly712=) | ClinVar |
| 13 | g.110179287C= | CA2118732839 | COL4A1 | c.2328G= (p.Gly776=) n.2458G= c.2136G= (p.Gly712=) | |
| 13 | g.110179287C>G | CA484981174 | COL4A1 | c.2328G>C (p.Gly776=) n.2458G>C c.2136G>C (p.Gly712=) | gnomAD v4 |
| 13 | g.110179287C>T | CA484981173 | COL4A1 | c.2328G>A (p.Gly776=) n.2458G>A c.2136G>A (p.Gly712=) | dbSNP gnomAD v2 |
| 13 | g.110179288C>A | CA388668558 | COL4A1 | c.2327G>T (p.Gly776Val) n.2457G>T c.2135G>T (p.Gly712Val) | ClinVar dbSNP |
| 13 | g.110179288C>G | CA388668559 | COL4A1 | c.2327G>C (p.Gly776Ala) n.2457G>C c.2135G>C (p.Gly712Ala) | |
| 13 | g.110179288C>T | CA388668560 | COL4A1 | c.2327G>A (p.Gly776Glu) n.2457G>A c.2135G>A (p.Gly712Glu) | |
| 13 | g.110179289C>A | CA388668561 | COL4A1 | c.2326G>T (p.Gly776Trp) n.2456G>T c.2134G>T (p.Gly712Trp) | |
| 13 | g.110179289C>G | CA388668562 | COL4A1 | c.2326G>C (p.Gly776Arg) n.2456G>C c.2134G>C (p.Gly712Arg) | |
| 13 | g.110179289C>T | CA388668563 | COL4A1 | c.2326G>A (p.Gly776Arg) n.2456G>A c.2134G>A (p.Gly712Arg) | |
| 13 | g.110179290A>C | CA484981181 | COL4A1 | c.2325T>G (p.Pro775=) n.2455T>G c.2133T>G (p.Pro711=) | |
| 13 | g.110179290A>G | CA484981180 | COL4A1 | c.2325T>C (p.Pro775=) n.2455T>C c.2133T>C (p.Pro711=) | |
| 13 | g.110179290A>T | CA484981179 | COL4A1 | c.2325T>A (p.Pro775=) n.2455T>A c.2133T>A (p.Pro711=) | |
| 13 | g.110179291G>A | CA388668564 | COL4A1 | c.2324C>T (p.Pro775Leu) n.2454C>T c.2132C>T (p.Pro711Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.110179291G>C | CA388668565 | COL4A1 | c.2324C>G (p.Pro775Arg) n.2454C>G c.2132C>G (p.Pro711Arg) | ClinVar |
| 13 | g.110179291G= | CA2118732841 | COL4A1 | c.2324C= (p.Pro775=) n.2454C= c.2132C= (p.Pro711=) | |
| 13 | g.110179291G>T | CA388668566 | COL4A1 | c.2324C>A (p.Pro775His) n.2454C>A c.2132C>A (p.Pro711His) | |
| 13 | g.110179295del | CA2575544046 | COL4A1 | c.2324del (p.Pro775LeufsTer27) n.2454del c.2132del (p.Pro711LeufsTer27) | |
| 13 | g.110179292G>A | CA388668567 | COL4A1 | c.2323C>T (p.Pro775Ser) n.2453C>T c.2131C>T (p.Pro711Ser) | |
| 13 | g.110179292G>C | CA388668568 | COL4A1 | c.2323C>G (p.Pro775Ala) n.2453C>G c.2131C>G (p.Pro711Ala) | |
| 13 | g.110179292G>T | CA388668569 | COL4A1 | c.2323C>A (p.Pro775Thr) n.2453C>A c.2131C>A (p.Pro711Thr) | |
| 13 | g.110179293G>A | CA484981184 | COL4A1 | c.2322C>T (p.Pro774=) n.2452C>T c.2130C>T (p.Pro710=) | dbSNP gnomAD v4 |
| 13 | g.110179293G>C | CA484981186 | COL4A1 | c.2322C>G (p.Pro774=) n.2452C>G c.2130C>G (p.Pro710=) | |
| 13 | g.110179293G= | CA2118732843 | COL4A1 | c.2322C= (p.Pro774=) n.2452C= c.2130C= (p.Pro710=) | |
| 13 | g.110179293G>T | CA484981185 | COL4A1 | c.2322C>A (p.Pro774=) n.2452C>A c.2130C>A (p.Pro710=) | |
| 13 | g.110179294G>A | CA388668571 | COL4A1 | c.2321C>T (p.Pro774Leu) n.2451C>T c.2129C>T (p.Pro710Leu) | |
| 13 | g.110179294G>C | CA388668572 | COL4A1 | c.2321C>G (p.Pro774Arg) n.2451C>G c.2129C>G (p.Pro710Arg) | dbSNP |
| 13 | g.110179294G= | CA2118732844 | COL4A1 | c.2321C= (p.Pro774=) n.2451C= c.2129C= (p.Pro710=) | |
| 13 | g.110179294G>T | CA388668570 | COL4A1 | c.2321C>A (p.Pro774His) n.2451C>A c.2129C>A (p.Pro710His) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110179295G>A | CA388668573 | COL4A1 | c.2320C>T (p.Pro774Ser) n.2450C>T c.2128C>T (p.Pro710Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110179295G>C | CA388668574 | COL4A1 | c.2320C>G (p.Pro774Ala) n.2450C>G c.2128C>G (p.Pro710Ala) | |
| 13 | g.110179295G= | CA2118732846 | COL4A1 | c.2320C= (p.Pro774=) n.2450C= c.2128C= (p.Pro710=) | |
| 13 | g.110179295G>T | CA7047639 | COL4A1 | c.2320C>A (p.Pro774Thr) n.2450C>A c.2128C>A (p.Pro710Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179296T>A | CA484981188 | COL4A1 | c.2319A>T (p.Gly773=) n.2449A>T c.2127A>T (p.Gly709=) | |
| 13 | g.110179296T>C | CA484981189 | COL4A1 | c.2319A>G (p.Gly773=) n.2449A>G c.2127A>G (p.Gly709=) | |
| 13 | g.110179296T>G | CA7047640 | COL4A1 | c.2319A>C (p.Gly773=) n.2449A>C c.2127A>C (p.Gly709=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179296T= | CA2118732848 | COL4A1 | c.2319A= (p.Gly773=) n.2449A= c.2127A= (p.Gly709=) | |
| 13 | g.110179297C>A | CA388668575 | COL4A1 | c.2318G>T (p.Gly773Val) n.2448G>T c.2126G>T (p.Gly709Val) | |
| 13 | g.110179297C>G | CA388668576 | COL4A1 | c.2318G>C (p.Gly773Ala) n.2448G>C c.2126G>C (p.Gly709Ala) | |
| 13 | g.110179297C>T | CA388668577 | COL4A1 | c.2318G>A (p.Gly773Glu) n.2448G>A c.2126G>A (p.Gly709Glu) | |
| 13 | g.110179298C>A | CA388668578 | COL4A1 | c.2317G>T (p.Gly773Ter) n.2447G>T c.2125G>T (p.Gly709Ter) | |
| 13 | g.110179298C= | CA2118732850 | COL4A1 | c.2317G= (p.Gly773=) n.2447G= c.2125G= (p.Gly709=) | |
| 13 | g.110179298C>G | CA273011 | COL4A1 | c.2317G>C (p.Gly773Arg) n.2447G>C c.2125G>C (p.Gly709Arg) | ClinVar dbSNP |
| 13 | g.110179298C>T | CA16606390 | COL4A1 | c.2317G>A (p.Gly773Arg) n.2447G>A c.2125G>A (p.Gly709Arg) | ClinVar dbSNP |
| 13 | g.110179299G>A | CA7047641 | COL4A1 | c.2316C>T (p.Ile772=) n.2446C>T c.2124C>T (p.Ile708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.110179299G>C | CA388668579 | COL4A1 | c.2316C>G (p.Ile772Met) n.2446C>G c.2124C>G (p.Ile708Met) | |
| 13 | g.110179299G= | CA2118732855 | COL4A1 | c.2316C= (p.Ile772=) n.2446C= c.2124C= (p.Ile708=) | |
| 13 | g.110179299G>T | CA484981194 | COL4A1 | c.2316C>A (p.Ile772=) n.2446C>A c.2124C>A (p.Ile708=) | |
| 13 | g.110179300A>C | CA388668580 | COL4A1 | c.2315T>G (p.Ile772Ser) n.2445T>G c.2123T>G (p.Ile708Ser) | |
| 13 | g.110179300A>G | CA388668581 | COL4A1 | c.2315T>C (p.Ile772Thr) n.2445T>C c.2123T>C (p.Ile708Thr) | |
| 13 | g.110179300A>T | CA388668582 | COL4A1 | c.2315T>A (p.Ile772Asn) n.2445T>A c.2123T>A (p.Ile708Asn) | |
| 13 | g.110179301T>A | CA7047642 | COL4A1 | c.2314A>T (p.Ile772Phe) n.2444A>T c.2122A>T (p.Ile708Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179301T>C | CA388668583 | COL4A1 | c.2314A>G (p.Ile772Val) n.2444A>G c.2122A>G (p.Ile708Val) | gnomAD v4 |
| 13 | g.110179301T>G | CA388668584 | COL4A1 | c.2314A>C (p.Ile772Leu) n.2444A>C c.2122A>C (p.Ile708Leu) | |
| 13 | g.110179301T= | CA2118732858 | COL4A1 | c.2314A= (p.Ile772=) n.2444A= c.2122A= (p.Ile708=) | |
| 13 | g.110179302C>A | CA484981196 | COL4A1 | c.2313G>T (p.Ala771=) n.2443G>T c.2121G>T (p.Ala707=) | |
| 13 | g.110179302C= | CA2118732861 | COL4A1 | c.2313G= (p.Ala771=) n.2443G= c.2121G= (p.Ala707=) | |
| 13 | g.110179302C>G | CA484981197 | COL4A1 | c.2313G>C (p.Ala771=) n.2443G>C c.2121G>C (p.Ala707=) | |
| 13 | g.110179302C>T | CA7047643 | COL4A1 | c.2313G>A (p.Ala771=) n.2443G>A c.2121G>A (p.Ala707=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.110179303G>A | CA7047644 | COL4A1 | c.2312C>T (p.Ala771Val) n.2442C>T c.2120C>T (p.Ala707Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.110179303G>C | CA388668585 | COL4A1 | c.2312C>G (p.Ala771Gly) n.2442C>G c.2120C>G (p.Ala707Gly) | |
| 13 | g.110179303G= | CA2118732863 | COL4A1 | c.2312C= (p.Ala771=) n.2442C= c.2120C= (p.Ala707=) | |
| 13 | g.110179303G>T | CA388668586 | COL4A1 | c.2312C>A (p.Ala771Glu) n.2442C>A c.2120C>A (p.Ala707Glu) | |
| 13 | g.110179304C>A | CA388668587 | COL4A1 | c.2311G>T (p.Ala771Ser) n.2441G>T c.2119G>T (p.Ala707Ser) | |
| 13 | g.110179304C>G | CA388668588 | COL4A1 | c.2311G>C (p.Ala771Pro) n.2441G>C c.2119G>C (p.Ala707Pro) | |
| 13 | g.110179304C>T | CA388668589 | COL4A1 | c.2311G>A (p.Ala771Thr) n.2441G>A c.2119G>A (p.Ala707Thr) | |
| 13 | g.110179305T>A | CA484981200 | COL4A1 | c.2310A>T (p.Gly770=) n.2440A>T c.2118A>T (p.Gly706=) | |
| 13 | g.110179305T>C | CA484981201 | COL4A1 | c.2310A>G (p.Gly770=) n.2440A>G c.2118A>G (p.Gly706=) | |
| 13 | g.110179305T>G | CA484981202 | COL4A1 | c.2310A>C (p.Gly770=) n.2440A>C c.2118A>C (p.Gly706=) | |
| 13 | g.110179306C>A | CA388668590 | COL4A1 | c.2309G>T (p.Gly770Val) n.2439G>T c.2117G>T (p.Gly706Val) | |
| 13 | g.110179306C>G | CA388668591 | COL4A1 | c.2309G>C (p.Gly770Ala) n.2439G>C c.2117G>C (p.Gly706Ala) | |
| 13 | g.110179306C>T | CA388668592 | COL4A1 | c.2309G>A (p.Gly770Glu) n.2439G>A c.2117G>A (p.Gly706Glu) | |
| 13 | g.110179307C>A | CA388668595 | COL4A1 | c.2308G>T (p.Gly770Ter) n.2438G>T c.2116G>T (p.Gly706Ter) | |
| 13 | g.110179307C>G | CA388668594 | COL4A1 | c.2308G>C (p.Gly770Arg) n.2438G>C c.2116G>C (p.Gly706Arg) | |
| 13 | g.110179307C>T | CA388668593 | COL4A1 | c.2308G>A (p.Gly770Arg) n.2438G>A c.2116G>A (p.Gly706Arg) | |
| 13 | g.110179308A>C | CA388668596 | COL4A1 | c.2307T>G (p.His769Gln) n.2437T>G c.2115T>G (p.His705Gln) | |
| 13 | g.110179308A>G | CA484981209 | COL4A1 | c.2307T>C (p.His769=) n.2437T>C c.2115T>C (p.His705=) | gnomAD v4 |
| 13 | g.110179308A>T | CA388668597 | COL4A1 | c.2307T>A (p.His769Gln) n.2437T>A c.2115T>A (p.His705Gln) | |
| 13 | g.110179309T>A | CA388668598 | COL4A1 | c.2306A>T (p.His769Leu) n.2436A>T c.2114A>T (p.His705Leu) | |
| 13 | g.110179309T>C | CA388668599 | COL4A1 | c.2306A>G (p.His769Arg) n.2436A>G c.2114A>G (p.His705Arg) | |
| 13 | g.110179309T>G | CA388668600 | COL4A1 | c.2306A>C (p.His769Pro) n.2436A>C c.2114A>C (p.His705Pro) | |
| 13 | g.110179310G>A | CA388668601 | COL4A1 | c.2305C>T (p.His769Tyr) n.2435C>T c.2113C>T (p.His705Tyr) | |
| 13 | g.110179310G>C | CA388668602 | COL4A1 | c.2305C>G (p.His769Asp) n.2435C>G c.2113C>G (p.His705Asp) | |
| 13 | g.110179310G>T | CA388668603 | COL4A1 | c.2305C>A (p.His769Asn) n.2435C>A c.2113C>A (p.His705Asn) | |
| 13 | g.110179311T>A | CA388668604 | COL4A1 | c.2304A>T (p.Glu768Asp) n.2434A>T c.2112A>T (p.Glu704Asp) | |
| 13 | g.110179311T>C | CA484981213 | COL4A1 | c.2304A>G (p.Glu768=) n.2434A>G c.2112A>G (p.Glu704=) | |
| 13 | g.110179311T>G | CA388668605 | COL4A1 | c.2304A>C (p.Glu768Asp) n.2434A>C c.2112A>C (p.Glu704Asp) | |
| 13 | g.110179312T>A | CA388668606 | COL4A1 | c.2303A>T (p.Glu768Val) n.2433A>T c.2111A>T (p.Glu704Val) | |
| 13 | g.110179312T>C | CA388668607 | COL4A1 | c.2303A>G (p.Glu768Gly) n.2433A>G c.2111A>G (p.Glu704Gly) | gnomAD v4 |
| 13 | g.110179312T>G | CA388668608 | COL4A1 | c.2303A>C (p.Glu768Ala) n.2433A>C c.2111A>C (p.Glu704Ala) | |
| 13 | g.110179313C>A | CA388668611 | COL4A1 | c.2302G>T (p.Glu768Ter) n.2432G>T c.2110G>T (p.Glu704Ter) | |
| 13 | g.110179313C>G | CA388668609 | COL4A1 | c.2302G>C (p.Glu768Gln) n.2432G>C c.2110G>C (p.Glu704Gln) | |
| 13 | g.110179313C>T | CA388668610 | COL4A1 | c.2302G>A (p.Glu768Lys) n.2432G>A c.2110G>A (p.Glu704Lys) | gnomAD v4 |
| 13 | g.110179314T>A | CA484981219 | COL4A1 | c.2301A>T (p.Gly767=) n.2431A>T c.2109A>T (p.Gly703=) | |
| 13 | g.110179314T>C | CA484981216 | COL4A1 | c.2301A>G (p.Gly767=) n.2431A>G c.2109A>G (p.Gly703=) | |
| 13 | g.110179314T>G | CA484981218 | COL4A1 | c.2301A>C (p.Gly767=) n.2431A>C c.2109A>C (p.Gly703=) | |
| 13 | g.110179315C>A | CA388668612 | COL4A1 | c.2300G>T (p.Gly767Val) n.2430G>T c.2108G>T (p.Gly703Val) | |
| 13 | g.110179315C>G | CA388668613 | COL4A1 | c.2300G>C (p.Gly767Ala) n.2430G>C c.2108G>C (p.Gly703Ala) | |
| 13 | g.110179315C>T | CA388668614 | COL4A1 | c.2300G>A (p.Gly767Glu) n.2430G>A c.2108G>A (p.Gly703Glu) | |
| 13 | g.110179316C>A | CA388668615 | COL4A1 | c.2299G>T (p.Gly767Ter) n.2429G>T c.2107G>T (p.Gly703Ter) | |
| 13 | g.110179316C>G | CA388668616 | COL4A1 | c.2299G>C (p.Gly767Arg) n.2429G>C c.2107G>C (p.Gly703Arg) | |
| 13 | g.110179316C>T | CA388668617 | COL4A1 | c.2299G>A (p.Gly767Arg) n.2429G>A c.2107G>A (p.Gly703Arg) | |
| 13 | g.110179317A>C | CA484981222 | COL4A1 | c.2298T>G (p.Pro766=) n.2428T>G c.2106T>G (p.Pro702=) | |
| 13 | g.110179317A>G | CA484981224 | COL4A1 | c.2298T>C (p.Pro766=) n.2428T>C c.2106T>C (p.Pro702=) | gnomAD v4 |
| 13 | g.110179317A>T | CA484981225 | COL4A1 | c.2298T>A (p.Pro766=) n.2428T>A c.2106T>A (p.Pro702=) | |
| 13 | g.110179318G>A | CA256259684 | COL4A1 | c.2297C>T (p.Pro766Leu) n.2427C>T c.2105C>T (p.Pro702Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.110179318G>C | CA388668618 | COL4A1 | c.2297C>G (p.Pro766Arg) n.2427C>G c.2105C>G (p.Pro702Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179318G= | CA2118732865 | COL4A1 | c.2297C= (p.Pro766=) n.2427C= c.2105C= (p.Pro702=) | |
| 13 | g.110179318G>T | CA388668619 | COL4A1 | c.2297C>A (p.Pro766His) n.2427C>A c.2105C>A (p.Pro702His) | |
| 13 | g.110179319del | CA2623674703 | COL4A1 | c.2297del (p.Pro766LeufsTer?) n.2427del c.2105del (p.Pro702LeufsTer?) | gnomAD v4 |
| 13 | g.110179319G>A | CA388668620 | COL4A1 | c.2296C>T (p.Pro766Ser) n.2426C>T c.2104C>T (p.Pro702Ser) | COSMIC |
| 13 | g.110179319G>C | CA388668621 | COL4A1 | c.2296C>G (p.Pro766Ala) n.2426C>G c.2104C>G (p.Pro702Ala) | gnomAD v4 |
| 13 | g.110179319G>T | CA388668622 | COL4A1 | c.2296C>A (p.Pro766Thr) n.2426C>A c.2104C>A (p.Pro702Thr) | |
| 13 | g.110179320A= | CA2118732867 | COL4A1 | c.2295T= (p.Val765=) n.2425T= c.2103T= (p.Val701=) | |
| 13 | g.110179320A>C | CA484981230 | COL4A1 | c.2295T>G (p.Val765=) n.2425T>G c.2103T>G (p.Val701=) | |
| 13 | g.110179320A>G | CA256259687 | COL4A1 | c.2295T>C (p.Val765=) n.2425T>C c.2103T>C (p.Val701=) | dbSNP COSMIC |
| 13 | g.110179320A>T | CA484981229 | COL4A1 | c.2295T>A (p.Val765=) n.2425T>A c.2103T>A (p.Val701=) | |
| 13 | g.110179321A>C | CA388668624 | COL4A1 | c.2294T>G (p.Val765Gly) n.2424T>G c.2102T>G (p.Val701Gly) | |
| 13 | g.110179321A>G | CA388668623 | COL4A1 | c.2294T>C (p.Val765Ala) n.2424T>C c.2102T>C (p.Val701Ala) | |
| 13 | g.110179321A>T | CA388668625 | COL4A1 | c.2294T>A (p.Val765Asp) n.2424T>A c.2102T>A (p.Val701Asp) | |
| 13 | g.110179322C>A | CA388668626 | COL4A1 | c.2293G>T (p.Val765Phe) n.2423G>T c.2101G>T (p.Val701Phe) | dbSNP |
| 13 | g.110179322C= | CA2118732869 | COL4A1 | c.2293G= (p.Val765=) n.2423G= c.2101G= (p.Val701=) | |
| 13 | g.110179322C>G | CA388668627 | COL4A1 | c.2293G>C (p.Val765Leu) n.2423G>C c.2101G>C (p.Val701Leu) | |
| 13 | g.110179322C>T | CA7047645 | COL4A1 | c.2293G>A (p.Val765Ile) n.2423G>A c.2101G>A (p.Val701Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.110179323G>A | CA7047646 | COL4A1 | c.2292C>T (p.Gly764=) n.2422C>T c.2100C>T (p.Gly700=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179323G>C | CA484981234 | COL4A1 | c.2292C>G (p.Gly764=) n.2422C>G c.2100C>G (p.Gly700=) | |
| 13 | g.110179323G= | CA2118732871 | COL4A1 | c.2292C= (p.Gly764=) n.2422C= c.2100C= (p.Gly700=) | |
| 13 | g.110179323G>T | CA484981235 | COL4A1 | c.2292C>A (p.Gly764=) n.2422C>A c.2100C>A (p.Gly700=) | gnomAD v4 |
| 13 | g.110179324C>A | CA388668630 | COL4A1 | c.2291G>T (p.Gly764Val) n.2421G>T c.2099G>T (p.Gly700Val) | |
| 13 | g.110179324C= | CA2118732875 | COL4A1 | c.2291G= (p.Gly764=) n.2421G= c.2099G= (p.Gly700=) | |
| 13 | g.110179324C>G | CA388668628 | COL4A1 | c.2291G>C (p.Gly764Ala) n.2421G>C c.2099G>C (p.Gly700Ala) | |
| 13 | g.110179324C>T | CA388668629 | COL4A1 | c.2291G>A (p.Gly764Asp) n.2421G>A c.2099G>A (p.Gly700Asp) | ClinVar dbSNP |
| 13 | g.110179325C>A | CA388668631 | COL4A1 | c.2290G>T (p.Gly764Cys) n.2420G>T c.2098G>T (p.Gly700Cys) | COSMIC |
| 13 | g.110179325C>G | CA388668632 | COL4A1 | c.2290G>C (p.Gly764Arg) n.2420G>C c.2098G>C (p.Gly700Arg) | |
| 13 | g.110179325C>T | CA388668633 | COL4A1 | c.2290G>A (p.Gly764Ser) n.2420G>A c.2098G>A (p.Gly700Ser) | ClinVar dbSNP |
| 13 | g.110179326T>A | CA484981238 | COL4A1 | c.2289A>T (p.Pro763=) n.2419A>T c.2097A>T (p.Pro699=) | |
| 13 | g.110179326T>C | CA484981240 | COL4A1 | c.2289A>G (p.Pro763=) n.2419A>G c.2097A>G (p.Pro699=) | |
| 13 | g.110179326T>G | CA484981241 | COL4A1 | c.2289A>C (p.Pro763=) n.2419A>C c.2097A>C (p.Pro699=) | |
| 13 | g.110179327G>A | CA388668634 | COL4A1 | c.2288C>T (p.Pro763Leu) n.2418C>T c.2096C>T (p.Pro699Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110179327G>C | CA7047647 | COL4A1 | c.2288C>G (p.Pro763Arg) n.2418C>G c.2096C>G (p.Pro699Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179327G= | CA2118732879 | COL4A1 | c.2288C= (p.Pro763=) n.2418C= c.2096C= (p.Pro699=) | |
| 13 | g.110179327G>T | CA388668635 | COL4A1 | c.2288C>A (p.Pro763Gln) n.2418C>A c.2096C>A (p.Pro699Gln) | |
| 13 | g.110179328G>A | CA388668636 | COL4A1 | c.2287C>T (p.Pro763Ser) n.2417C>T c.2095C>T (p.Pro699Ser) | gnomAD v4 |
| 13 | g.110179328G>C | CA388668637 | COL4A1 | c.2287C>G (p.Pro763Ala) n.2417C>G c.2095C>G (p.Pro699Ala) | |
| 13 | g.110179328G>T | CA388668638 | COL4A1 | c.2287C>A (p.Pro763Thr) n.2417C>A c.2095C>A (p.Pro699Thr) | |
| 13 | g.110179329T>A | CA484981244 | COL4A1 | c.2286A>T (p.Val762=) n.2416A>T c.2094A>T (p.Val698=) | dbSNP |
| 13 | g.110179329T>C | CA484981246 | COL4A1 | c.2286A>G (p.Val762=) n.2416A>G c.2094A>G (p.Val698=) | |
| 13 | g.110179329T>G | CA484981247 | COL4A1 | c.2286A>C (p.Val762=) n.2416A>C c.2094A>C (p.Val698=) | |
| 13 | g.110179329T= | CA2118732882 | COL4A1 | c.2286A= (p.Val762=) n.2416A= c.2094A= (p.Val698=) | |
| 13 | g.110179330A= | CA2118732886 | COL4A1 | c.2285T= (p.Val762=) n.2415T= c.2093T= (p.Val698=) | |
| 13 | g.110179330A>C | CA388668640 | COL4A1 | c.2285T>G (p.Val762Gly) n.2415T>G c.2093T>G (p.Val698Gly) | |
| 13 | g.110179330A>G | CA7047648 | COL4A1 | c.2285T>C (p.Val762Ala) n.2415T>C c.2093T>C (p.Val698Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179330A>T | CA388668639 | COL4A1 | c.2285T>A (p.Val762Glu) n.2415T>A c.2093T>A (p.Val698Glu) | ClinVar gnomAD v4 |
| 13 | g.110179331C>A | CA388668641 | COL4A1 | c.2284G>T (p.Val762Leu) n.2414G>T c.2092G>T (p.Val698Leu) | gnomAD v4 |
| 13 | g.110179331C= | CA2118732895 | COL4A1 | c.2284G= (p.Val762=) n.2414G= c.2092G= (p.Val698=) | |
| 13 | g.110179331C>G | CA388668642 | COL4A1 | c.2284G>C (p.Val762Leu) n.2414G>C c.2092G>C (p.Val698Leu) | |
| 13 | g.110179331C>T | CA7047649 | COL4A1 | c.2284G>A (p.Val762Ile) n.2414G>A c.2092G>A (p.Val698Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179332C>A | CA484981251 | COL4A1 | c.2283G>T (p.Gly761=) n.2413G>T c.2091G>T (p.Gly697=) | |
| 13 | g.110179332C>G | CA484981252 | COL4A1 | c.2283G>C (p.Gly761=) n.2413G>C c.2091G>C (p.Gly697=) | |
| 13 | g.110179332C>T | CA484981253 | COL4A1 | c.2283G>A (p.Gly761=) n.2413G>A c.2091G>A (p.Gly697=) | |
| 13 | g.110179333C>A | CA16619613 | COL4A1 | c.2282G>T (p.Gly761Val) n.2412G>T c.2090G>T (p.Gly697Val) | ClinVar dbSNP |
| 13 | g.110179333C= | CA2118732898 | COL4A1 | c.2282G= (p.Gly761=) n.2412G= c.2090G= (p.Gly697=) | |
| 13 | g.110179333C>G | CA388668643 | COL4A1 | c.2282G>C (p.Gly761Ala) n.2412G>C c.2090G>C (p.Gly697Ala) | |
| 13 | g.110179333C>T | CA388668644 | COL4A1 | c.2282G>A (p.Gly761Glu) n.2412G>A c.2090G>A (p.Gly697Glu) | |
| 13 | g.110179334C>A | CA388668645 | COL4A1 | c.2281G>T (p.Gly761Trp) n.2411G>T c.2089G>T (p.Gly697Trp) | |
| 13 | g.110179334C>G | CA388668646 | COL4A1 | c.2281G>C (p.Gly761Arg) n.2411G>C c.2089G>C (p.Gly697Arg) | |
| 13 | g.110179334C>T | CA388668647 | COL4A1 | c.2281G>A (p.Gly761Arg) n.2411G>A c.2089G>A (p.Gly697Arg) | ClinVar dbSNP |
| 13 | g.110179335A>C | CA388668648 | COL4A1 | c.2280T>G (p.Ile760Met) n.2410T>G c.2088T>G (p.Ile696Met) | |
| 13 | g.110179335A>G | CA484981256 | COL4A1 | c.2280T>C (p.Ile760=) n.2410T>C c.2088T>C (p.Ile696=) | |
| 13 | g.110179335A>T | CA484981257 | COL4A1 | c.2280T>A (p.Ile760=) n.2410T>A c.2088T>A (p.Ile696=) | |
| 13 | g.110179336A= | CA2118732901 | COL4A1 | c.2279T= (p.Ile760=) n.2409T= c.2087T= (p.Ile696=) | |
| 13 | g.110179336A>C | CA388668650 | COL4A1 | c.2279T>G (p.Ile760Ser) n.2409T>G c.2087T>G (p.Ile696Ser) | ClinVar |
| 13 | g.110179336A>G | CA7047650 | COL4A1 | c.2279T>C (p.Ile760Thr) n.2409T>C c.2087T>C (p.Ile696Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179336A>T | CA388668649 | COL4A1 | c.2279T>A (p.Ile760Asn) n.2409T>A c.2087T>A (p.Ile696Asn) | |
| 13 | g.110179337T>A | CA388668651 | COL4A1 | c.2278A>T (p.Ile760Phe) n.2408A>T c.2086A>T (p.Ile696Phe) | |
| 13 | g.110179337T>C | CA388668652 | COL4A1 | c.2278A>G (p.Ile760Val) n.2408A>G c.2086A>G (p.Ile696Val) | gnomAD v4 |
| 13 | g.110179337T>G | CA388668653 | COL4A1 | c.2278A>C (p.Ile760Leu) n.2408A>C c.2086A>C (p.Ile696Leu) | dbSNP |
| 13 | g.110179337T= | CA2118732903 | COL4A1 | c.2278A= (p.Ile760=) n.2408A= c.2086A= (p.Ile696=) | |
| 13 | g.110179338G>A | CA484981261 | COL4A1 | c.2277C>T (p.Ser759=) n.2407C>T c.2085C>T (p.Ser695=) | |
| 13 | g.110179338G>C | CA388668654 | COL4A1 | c.2277C>G (p.Ser759Arg) n.2407C>G c.2085C>G (p.Ser695Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179338G= | CA2118732905 | COL4A1 | c.2277C= (p.Ser759=) n.2407C= c.2085C= (p.Ser695=) | |
| 13 | g.110179338G>T | CA7047651 | COL4A1 | c.2277C>A (p.Ser759Arg) n.2407C>A c.2085C>A (p.Ser695Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179339C>A | CA388668655 | COL4A1 | c.2276G>T (p.Ser759Ile) n.2406G>T c.2084G>T (p.Ser695Ile) | |
| 13 | g.110179339C= | CA2118732911 | COL4A1 | c.2276G= (p.Ser759=) n.2406G= c.2084G= (p.Ser695=) | |
| 13 | g.110179339C>G | CA388668656 | COL4A1 | c.2276G>C (p.Ser759Thr) n.2406G>C c.2084G>C (p.Ser695Thr) | |
| 13 | g.110179339C>T | CA388668657 | COL4A1 | c.2276G>A (p.Ser759Asn) n.2406G>A c.2084G>A (p.Ser695Asn) | dbSNP gnomAD v4 |
| 13 | g.110179340T>A | CA388668658 | COL4A1 | c.2275A>T (p.Ser759Cys) n.2405A>T c.2083A>T (p.Ser695Cys) | |
| 13 | g.110179340T>C | CA388668659 | COL4A1 | c.2275A>G (p.Ser759Gly) n.2405A>G c.2083A>G (p.Ser695Gly) | |
| 13 | g.110179340T>G | CA388668660 | COL4A1 | c.2275A>C (p.Ser759Arg) n.2405A>C c.2083A>C (p.Ser695Arg) | |
| 13 | g.110179341C>A | CA484981263 | COL4A1 | c.2274G>T (p.Gly758=) n.2404G>T c.2082G>T (p.Gly694=) | |
| 13 | g.110179341C= | CA2118732913 | COL4A1 | c.2274G= (p.Gly758=) n.2404G= c.2082G= (p.Gly694=) | |
| 13 | g.110179341C>G | CA484981265 | COL4A1 | c.2274G>C (p.Gly758=) n.2404G>C c.2082G>C (p.Gly694=) | gnomAD v4 |
| 13 | g.110179341C>T | CA7047652 | COL4A1 | c.2274G>A (p.Gly758=) n.2404G>A c.2082G>A (p.Gly694=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179342C>A | CA388668663 | COL4A1 | c.2273G>T (p.Gly758Val) n.2403G>T c.2081G>T (p.Gly694Val) | |
| 13 | g.110179342C>G | CA388668661 | COL4A1 | c.2273G>C (p.Gly758Ala) n.2403G>C c.2081G>C (p.Gly694Ala) | |
| 13 | g.110179342C>T | CA388668662 | COL4A1 | c.2273G>A (p.Gly758Glu) n.2403G>A c.2081G>A (p.Gly694Glu) | |
| 13 | g.110179343C>A | CA388668664 | COL4A1 | c.2272G>T (p.Gly758Trp) n.2402G>T c.2080G>T (p.Gly694Trp) | |
| 13 | g.110179343C>G | CA388668665 | COL4A1 | c.2272G>C (p.Gly758Arg) n.2402G>C c.2080G>C (p.Gly694Arg) | |
| 13 | g.110179343C>T | CA388668666 | COL4A1 | c.2272G>A (p.Gly758Arg) n.2402G>A c.2080G>A (p.Gly694Arg) | |
| 13 | g.110179344C>A | CA388668667 | COL4A1 | c.2271G>T (p.Lys757Asn) n.2401G>T c.2079G>T (p.Lys693Asn) | |
| 13 | g.110179344C>G | CA388668668 | COL4A1 | c.2271G>C (p.Lys757Asn) n.2401G>C c.2079G>C (p.Lys693Asn) | COSMIC |
| 13 | g.110179344C>T | CA484981269 | COL4A1 | c.2271G>A (p.Lys757=) n.2401G>A c.2079G>A (p.Lys693=) | |
| 13 | g.110179345T>A | CA388668669 | COL4A1 | c.2270A>T (p.Lys757Met) n.2400A>T c.2078A>T (p.Lys693Met) | |
| 13 | g.110179345T>C | CA388668670 | COL4A1 | c.2270A>G (p.Lys757Arg) n.2400A>G c.2078A>G (p.Lys693Arg) | |
| 13 | g.110179345T>G | CA388668671 | COL4A1 | c.2270A>C (p.Lys757Thr) n.2400A>C c.2078A>C (p.Lys693Thr) | |
| 13 | g.110179346T>A | CA388668672 | COL4A1 | c.2269A>T (p.Lys757Ter) n.2399A>T c.2077A>T (p.Lys693Ter) | |
| 13 | g.110179346T>C | CA388668673 | COL4A1 | c.2269A>G (p.Lys757Glu) n.2399A>G c.2077A>G (p.Lys693Glu) | |
| 13 | g.110179346T>G | CA7047653 | COL4A1 | c.2269A>C (p.Lys757Gln) n.2399A>C c.2077A>C (p.Lys693Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179346T= | CA2118732915 | COL4A1 | c.2269A= (p.Lys757=) n.2399A= c.2077A= (p.Lys693=) | |
| 13 | g.110179347C>A | CA388668674 | COL4A1 | c.2268G>T (p.Glu756Asp) n.2398G>T c.2076G>T (p.Glu692Asp) | gnomAD v4 |
| 13 | g.110179347C>G | CA388668675 | COL4A1 | c.2268G>C (p.Glu756Asp) n.2398G>C c.2076G>C (p.Glu692Asp) | |
| 13 | g.110179347C>T | CA484981271 | COL4A1 | c.2268G>A (p.Glu756=) n.2398G>A c.2076G>A (p.Glu692=) | |
| 13 | g.110179348T>A | CA388668677 | COL4A1 | c.2267A>T (p.Glu756Val) n.2397A>T c.2075A>T (p.Glu692Val) | |
| 13 | g.110179348T>C | CA388668678 | COL4A1 | c.2267A>G (p.Glu756Gly) n.2397A>G c.2075A>G (p.Glu692Gly) | |
| 13 | g.110179348T>G | CA388668676 | COL4A1 | c.2267A>C (p.Glu756Ala) n.2397A>C c.2075A>C (p.Glu692Ala) | |
| 13 | g.110179349C>A | CA388668679 | COL4A1 | c.2266G>T (p.Glu756Ter) n.2396G>T c.2074G>T (p.Glu692Ter) | |
| 13 | g.110179349C>G | CA388668680 | COL4A1 | c.2266G>C (p.Glu756Gln) n.2396G>C c.2074G>C (p.Glu692Gln) | |
| 13 | g.110179349C>T | CA388668681 | COL4A1 | c.2266G>A (p.Glu756Lys) n.2396G>A c.2074G>A (p.Glu692Lys) | COSMIC |
| 13 | g.110179350C>A | CA484981273 | COL4A1 | c.2265G>T (p.Gly755=) n.2395G>T c.2073G>T (p.Gly691=) | |
| 13 | g.110179350C= | CA2118732917 | COL4A1 | c.2265G= (p.Gly755=) n.2395G= c.2073G= (p.Gly691=) | |
| 13 | g.110179350C>G | CA7047654 | COL4A1 | c.2265G>C (p.Gly755=) n.2395G>C c.2073G>C (p.Gly691=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179350C>T | CA484981274 | COL4A1 | c.2265G>A (p.Gly755=) n.2395G>A c.2073G>A (p.Gly691=) | COSMIC |
| 13 | g.110179351C>A | CA388668682 | COL4A1 | c.2264G>T (p.Gly755Val) n.2394G>T c.2072G>T (p.Gly691Val) | |
| 13 | g.110179351C= | CA2118732919 | COL4A1 | c.2264G= (p.Gly755=) n.2394G= c.2072G= (p.Gly691=) | |
| 13 | g.110179351C>G | CA388668683 | COL4A1 | c.2264G>C (p.Gly755Ala) n.2394G>C c.2072G>C (p.Gly691Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110179351C>T | CA388668684 | COL4A1 | c.2264G>A (p.Gly755Glu) n.2394G>A c.2072G>A (p.Gly691Glu) | ClinVar dbSNP |
| 13 | g.110179352C>A | CA388668685 | COL4A1 | c.2263G>T (p.Gly755Trp) n.2393G>T c.2071G>T (p.Gly691Trp) | |
| 13 | g.110179352C= | CA2118732925 | COL4A1 | c.2263G= (p.Gly755=) n.2393G= c.2071G= (p.Gly691=) | |
| 13 | g.110179352C>G | CA388668686 | COL4A1 | c.2263G>C (p.Gly755Arg) n.2393G>C c.2071G>C (p.Gly691Arg) | |
| 13 | g.110179352C>T | CA273009 | COL4A1 | c.2263G>A (p.Gly755Arg) n.2393G>A c.2071G>A (p.Gly691Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.110179353G>A | CA10642791 | COL4A1 | c.2262C>T (p.Pro754=) n.2392C>T c.2070C>T (p.Pro690=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.110179353G>C | CA484981280 | COL4A1 | c.2262C>G (p.Pro754=) n.2392C>G c.2070C>G (p.Pro690=) | |
| 13 | g.110179353G= | CA2118732934 | COL4A1 | c.2262C= (p.Pro754=) n.2392C= c.2070C= (p.Pro690=) | |
| 13 | g.110179353G>T | CA7047655 | COL4A1 | c.2262C>A (p.Pro754=) n.2392C>A c.2070C>A (p.Pro690=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179354G>A | CA388668687 | COL4A1 | c.2261C>T (p.Pro754Leu) n.2391C>T c.2069C>T (p.Pro690Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179354G>C | CA388668688 | COL4A1 | c.2261C>G (p.Pro754Arg) n.2391C>G c.2069C>G (p.Pro690Arg) | |
| 13 | g.110179354G= | CA2118732941 | COL4A1 | c.2261C= (p.Pro754=) n.2391C= c.2069C= (p.Pro690=) | |
| 13 | g.110179354G>T | CA388668689 | COL4A1 | c.2261C>A (p.Pro754His) n.2391C>A c.2069C>A (p.Pro690His) | |
| 13 | g.110179355G>A | CA388668690 | COL4A1 | c.2260C>T (p.Pro754Ser) n.2390C>T c.2068C>T (p.Pro690Ser) | dbSNP |
| 13 | g.110179355G>C | CA388668692 | COL4A1 | c.2260C>G (p.Pro754Ala) n.2390C>G c.2068C>G (p.Pro690Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110179355G= | CA2118732948 | COL4A1 | c.2260C= (p.Pro754=) n.2390C= c.2068C= (p.Pro690=) | |
| 13 | g.110179355G>T | CA388668691 | COL4A1 | c.2260C>A (p.Pro754Thr) n.2390C>A c.2068C>A (p.Pro690Thr) | |
| 13 | g.110179356T>A | CA484981282 | COL4A1 | c.2259A>T (p.Thr753=) n.2389A>T c.2067A>T (p.Thr689=) | |
| 13 | g.110179356T>C | CA484981283 | COL4A1 | c.2259A>G (p.Thr753=) n.2389A>G c.2067A>G (p.Thr689=) | |
| 13 | g.110179356T>G | CA484981284 | COL4A1 | c.2259A>C (p.Thr753=) n.2389A>C c.2067A>C (p.Thr689=) | |
| 13 | g.110179357G>A | CA7047656 | COL4A1 | c.2258C>T (p.Thr753Ile) n.2388C>T c.2066C>T (p.Thr689Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179357G>C | CA388668693 | COL4A1 | c.2258C>G (p.Thr753Arg) n.2388C>G c.2066C>G (p.Thr689Arg) | |
| 13 | g.110179357G= | CA2118732950 | COL4A1 | c.2258C= (p.Thr753=) n.2388C= c.2066C= (p.Thr689=) | |
| 13 | g.110179357G>T | CA388668694 | COL4A1 | c.2258C>A (p.Thr753Lys) n.2388C>A c.2066C>A (p.Thr689Lys) | |
| 13 | g.110179358T>A | CA388668695 | COL4A1 | c.2257A>T (p.Thr753Ser) n.2387A>T c.2065A>T (p.Thr689Ser) | |
| 13 | g.110179358T>C | CA388668696 | COL4A1 | c.2257A>G (p.Thr753Ala) n.2387A>G c.2065A>G (p.Thr689Ala) | |
| 13 | g.110179358T>G | CA388668697 | COL4A1 | c.2257A>C (p.Thr753Pro) n.2387A>C c.2065A>C (p.Thr689Pro) | |
| 13 | g.110179359G>A | CA484981290 | COL4A1 | c.2256C>T (p.Gly752=) n.2386C>T c.2064C>T (p.Gly688=) | |
| 13 | g.110179359G>C | CA484981291 | COL4A1 | c.2256C>G (p.Gly752=) n.2386C>G c.2064C>G (p.Gly688=) | |
| 13 | g.110179359G>T | CA484981292 | COL4A1 | c.2256C>A (p.Gly752=) n.2386C>A c.2064C>A (p.Gly688=) | COSMIC |
| 13 | g.110179360C>A | CA388668698 | COL4A1 | c.2255G>T (p.Gly752Val) n.2385G>T c.2063G>T (p.Gly688Val) | |
| 13 | g.110179360C>G | CA388668699 | COL4A1 | c.2255G>C (p.Gly752Ala) n.2385G>C c.2063G>C (p.Gly688Ala) | |
| 13 | g.110179360C>T | CA388668700 | COL4A1 | c.2255G>A (p.Gly752Asp) n.2385G>A c.2063G>A (p.Gly688Asp) | gnomAD v4 |
| 13 | g.110179361C>A | CA388668701 | COL4A1 | c.2254G>T (p.Gly752Cys) n.2384G>T c.2062G>T (p.Gly688Cys) | |
| 13 | g.110179361C>G | CA388668702 | COL4A1 | c.2254G>C (p.Gly752Arg) n.2384G>C c.2062G>C (p.Gly688Arg) | |
| 13 | g.110179361C>T | CA388668703 | COL4A1 | c.2254G>A (p.Gly752Ser) n.2384G>A c.2062G>A (p.Gly688Ser) | |
| 13 | g.110179362A>C | CA484981298 | COL4A1 | c.2253T>G (p.Pro751=) n.2383T>G c.2061T>G (p.Pro687=) | |
| 13 | g.110179362A>G | CA484981299 | COL4A1 | c.2253T>C (p.Pro751=) n.2383T>C c.2061T>C (p.Pro687=) | |
| 13 | g.110179362A>T | CA484981297 | COL4A1 | c.2253T>A (p.Pro751=) n.2383T>A c.2061T>A (p.Pro687=) | |
| 13 | g.110179363G>A | CA388668704 | COL4A1 | c.2252C>T (p.Pro751Leu) n.2382C>T c.2060C>T (p.Pro687Leu) | |
| 13 | g.110179363G>C | CA388668705 | COL4A1 | c.2252C>G (p.Pro751Arg) n.2382C>G c.2060C>G (p.Pro687Arg) | gnomAD v4 |
| 13 | g.110179363G= | CA2118732953 | COL4A1 | c.2252C= (p.Pro751=) n.2382C= c.2060C= (p.Pro687=) | |
| 13 | g.110179363G>T | CA7047657 | COL4A1 | c.2252C>A (p.Pro751His) n.2382C>A c.2060C>A (p.Pro687His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179364G>A | CA388668706 | COL4A1 | c.2251C>T (p.Pro751Ser) n.2381C>T c.2059C>T (p.Pro687Ser) | COSMIC |
| 13 | g.110179364G>C | CA388668707 | COL4A1 | c.2251C>G (p.Pro751Ala) n.2381C>G c.2059C>G (p.Pro687Ala) | |
| 13 | g.110179364G>T | CA388668708 | COL4A1 | c.2251C>A (p.Pro751Thr) n.2381C>A c.2059C>A (p.Pro687Thr) | |
| 13 | g.110179365A= | CA2118732957 | COL4A1 | c.2250T= (p.Ile750=) n.2380T= c.2058T= (p.Ile686=) | |
| 13 | g.110179365A>C | CA388668709 | COL4A1 | c.2250T>G (p.Ile750Met) n.2380T>G c.2058T>G (p.Ile686Met) | |
| 13 | g.110179365A>G | CA256259727 | COL4A1 | c.2250T>C (p.Ile750=) n.2380T>C c.2058T>C (p.Ile686=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110179365A>T | CA484981301 | COL4A1 | c.2250T>A (p.Ile750=) n.2380T>A c.2058T>A (p.Ile686=) | |
| 13 | g.110179366A= | CA2118732961 | COL4A1 | c.2249T= (p.Ile750=) n.2379T= c.2057T= (p.Ile686=) | |
| 13 | g.110179366A>C | CA388668710 | COL4A1 | c.2249T>G (p.Ile750Ser) n.2379T>G c.2057T>G (p.Ile686Ser) | |
| 13 | g.110179366A>G | CA388668711 | COL4A1 | c.2249T>C (p.Ile750Thr) n.2379T>C c.2057T>C (p.Ile686Thr) | ClinVar dbSNP |
| 13 | g.110179366A>T | CA388668712 | COL4A1 | c.2249T>A (p.Ile750Asn) n.2379T>A c.2057T>A (p.Ile686Asn) | |
| 13 | g.110179367T>A | CA388668713 | COL4A1 | c.2248A>T (p.Ile750Phe) n.2378A>T c.2056A>T (p.Ile686Phe) | |
| 13 | g.110179367T>C | CA388668715 | COL4A1 | c.2248A>G (p.Ile750Val) n.2378A>G c.2056A>G (p.Ile686Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.110179367T>G | CA388668714 | COL4A1 | c.2248A>C (p.Ile750Leu) n.2378A>C c.2056A>C (p.Ile686Leu) | gnomAD v4 |
| 13 | g.110179367T= | CA2118732966 | COL4A1 | c.2248A= (p.Ile750=) n.2378A= c.2056A= (p.Ile686=) | |
| 13 | g.110179368G>A | CA7047658 | COL4A1 | c.2247C>T (p.Gly749=) n.2377C>T c.2055C>T (p.Gly685=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110179368G>C | CA484981306 | COL4A1 | c.2247C>G (p.Gly749=) n.2377C>G c.2055C>G (p.Gly685=) | |
| 13 | g.110179368G= | CA2118732970 | COL4A1 | c.2247C= (p.Gly749=) n.2377C= c.2055C= (p.Gly685=) | |
| 13 | g.110179368G>T | CA484981309 | COL4A1 | c.2247C>A (p.Gly749=) n.2377C>A c.2055C>A (p.Gly685=) | gnomAD v4 |
| 13 | g.110179369C>A | CA388668716 | COL4A1 | c.2246G>T (p.Gly749Val) n.2376G>T c.2054G>T (p.Gly685Val) | |
| 13 | g.110179369C>G | CA388668717 | COL4A1 | c.2246G>C (p.Gly749Ala) n.2376G>C c.2054G>C (p.Gly685Ala) | |
| 13 | g.110179369C>T | CA388668718 | COL4A1 | c.2246G>A (p.Gly749Asp) n.2376G>A c.2054G>A (p.Gly685Asp) | |
| 13 | g.110179370C>A | CA388668719 | COL4A1 | c.2245G>T (p.Gly749Cys) n.2375G>T c.2053G>T (p.Gly685Cys) | |
| 13 | g.110179370C= | CA2118732973 | COL4A1 | c.2245G= (p.Gly749=) n.2375G= c.2053G= (p.Gly685=) | |
| 13 | g.110179370C>G | CA388668720 | COL4A1 | c.2245G>C (p.Gly749Arg) n.2375G>C c.2053G>C (p.Gly685Arg) | |
| 13 | g.110179370C>T | CA341446 | COL4A1 | c.2245G>A (p.Gly749Ser) n.2375G>A c.2053G>A (p.Gly685Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |