WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108681787G>A | CA413851969 | COL4A5 | c.4115G>A (p.Gly1372Glu) c.4097G>A (p.Gly1366Glu) n.609G>A n.518G>A c.4106G>A (p.Gly1369Glu) c.3791G>A (p.Gly1264Glu) c.1688G>A (p.Gly563Glu) c.4130G>A (p.Gly1377Glu) c.4121G>A (p.Gly1374Glu) c.4112G>A (p.Gly1371Glu) c.2450G>A (p.Gly817Glu) | |
| X | g.108681787G>C | CA413851971 | COL4A5 | c.4115G>C (p.Gly1372Ala) c.4097G>C (p.Gly1366Ala) n.609G>C n.518G>C c.4106G>C (p.Gly1369Ala) c.3791G>C (p.Gly1264Ala) c.1688G>C (p.Gly563Ala) c.4130G>C (p.Gly1377Ala) c.4121G>C (p.Gly1374Ala) c.4112G>C (p.Gly1371Ala) c.2450G>C (p.Gly817Ala) | |
| X | g.108681787G>T | CA413851973 | COL4A5 | c.4115G>T (p.Gly1372Val) c.4097G>T (p.Gly1366Val) n.609G>T n.518G>T c.4106G>T (p.Gly1369Val) c.3791G>T (p.Gly1264Val) c.1688G>T (p.Gly563Val) c.4130G>T (p.Gly1377Val) c.4121G>T (p.Gly1374Val) c.4112G>T (p.Gly1371Val) c.2450G>T (p.Gly817Val) | |
| X | g.108681788A= | CA2450717223 | COL4A5 | c.4116A= (p.Gly1372=) c.4098A= (p.Gly1366=) n.610A= n.519A= c.4107A= (p.Gly1369=) c.3792A= (p.Gly1264=) c.1689A= (p.Gly563=) c.4131A= (p.Gly1377=) c.4122A= (p.Gly1374=) c.4113A= (p.Gly1371=) c.2451A= (p.Gly817=) | |
| X | g.108681788A>C | CA10489294 | COL4A5 | c.4116A>C (p.Gly1372=) c.4098A>C (p.Gly1366=) n.610A>C n.519A>C c.4107A>C (p.Gly1369=) c.3792A>C (p.Gly1264=) c.1689A>C (p.Gly563=) c.4131A>C (p.Gly1377=) c.4122A>C (p.Gly1374=) c.4113A>C (p.Gly1371=) c.2451A>C (p.Gly817=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681788A>G | CA517923811 | COL4A5 | c.4116A>G (p.Gly1372=) c.4098A>G (p.Gly1366=) n.610A>G n.519A>G c.4107A>G (p.Gly1369=) c.3792A>G (p.Gly1264=) c.1689A>G (p.Gly563=) c.4131A>G (p.Gly1377=) c.4122A>G (p.Gly1374=) c.4113A>G (p.Gly1371=) c.2451A>G (p.Gly817=) | gnomAD v4 |
| X | g.108681788A>T | CA517923810 | COL4A5 | c.4116A>T (p.Gly1372=) c.4098A>T (p.Gly1366=) n.610A>T n.519A>T c.4107A>T (p.Gly1369=) c.3792A>T (p.Gly1264=) c.1689A>T (p.Gly563=) c.4131A>T (p.Gly1377=) c.4122A>T (p.Gly1374=) c.4113A>T (p.Gly1371=) c.2451A>T (p.Gly817=) | |
| X | g.108681788_108681796delinsACAGAGTAT | CA2450717222 | COL4A5 | c.4116_4124delinsACAGAGTAT (p.Gly1372=) c.4098_4106delinsACAGAGTAT (p.Gly1366=) n.610_618delinsACAGAGTAT n.519_527delinsACAGAGTAT c.4107_4115delinsACAGAGTAT (p.Gly1369=) c.3792_3800delinsACAGAGTAT (p.Gly1264=) c.1689_1697delinsACAGAGTAT (p.Gly563=) c.4131_4139delinsACAGAGTAT (p.Gly1377=) c.4122_4130delinsACAGAGTAT (p.Gly1374=) c.4113_4121delinsACAGAGTAT (p.Gly1371=) c.2451_2459delinsACAGAGTAT (p.Gly817=) | |
| X | g.108681789C>A | CA10489295 | COL4A5 | c.4117C>A (p.Gln1373Lys) c.4099C>A (p.Gln1367Lys) n.611C>A n.520C>A c.4108C>A (p.Gln1370Lys) c.3793C>A (p.Gln1265Lys) c.1690C>A (p.Gln564Lys) c.4132C>A (p.Gln1378Lys) c.4123C>A (p.Gln1375Lys) c.4114C>A (p.Gln1372Lys) c.2452C>A (p.Gln818Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681789C= | CA2450717225 | COL4A5 | c.4117C= (p.Gln1373=) c.4099C= (p.Gln1367=) n.611C= n.520C= c.4108C= (p.Gln1370=) c.3793C= (p.Gln1265=) c.1690C= (p.Gln564=) c.4132C= (p.Gln1378=) c.4123C= (p.Gln1375=) c.4114C= (p.Gln1372=) c.2452C= (p.Gln818=) | |
| X | g.108681789C>G | CA413851978 | COL4A5 | c.4117C>G (p.Gln1373Glu) c.4099C>G (p.Gln1367Glu) n.611C>G n.520C>G c.4108C>G (p.Gln1370Glu) c.3793C>G (p.Gln1265Glu) c.1690C>G (p.Gln564Glu) c.4132C>G (p.Gln1378Glu) c.4123C>G (p.Gln1375Glu) c.4114C>G (p.Gln1372Glu) c.2452C>G (p.Gln818Glu) | |
| X | g.108681789C>T | CA413851977 | COL4A5 | c.4117C>T (p.Gln1373Ter) c.4099C>T (p.Gln1367Ter) n.611C>T n.520C>T c.4108C>T (p.Gln1370Ter) c.3793C>T (p.Gln1265Ter) c.1690C>T (p.Gln564Ter) c.4132C>T (p.Gln1378Ter) c.4123C>T (p.Gln1375Ter) c.4114C>T (p.Gln1372Ter) c.2452C>T (p.Gln818Ter) | |
| X | g.108681789_108681791delinsCAG | CA2450717224 | COL4A5 | c.4117_4119delinsCAG (p.Gln1373=) c.4099_4101delinsCAG (p.Gln1367=) n.611_613delinsCAG n.520_522delinsCAG c.4108_4110delinsCAG (p.Gln1370=) c.3793_3795delinsCAG (p.Gln1265=) c.1690_1692delinsCAG (p.Gln564=) c.4132_4134delinsCAG (p.Gln1378=) c.4123_4125delinsCAG (p.Gln1375=) c.4114_4116delinsCAG (p.Gln1372=) c.2452_2454delinsCAG (p.Gln818=) | |
| X | g.108681791_108681798del | CA1139667748 | COL4A5 | c.4119_4126del (p.Gln1373HisfsTer3) c.4101_4108del (p.Gln1367HisfsTer3) n.613_620del n.522_529del c.4110_4117del (p.Gln1370HisfsTer3) c.3795_3802del (p.Gln1265HisfsTer3) c.1692_1699del (p.Gln564HisfsTer3) c.4134_4141del (p.Gln1378HisfsTer3) c.4125_4132del (p.Gln1375HisfsTer3) c.4116_4123del (p.Gln1372HisfsTer3) c.2454_2461del (p.Gln818HisfsTer3) | ClinVar dbSNP |
| X | g.108681790A>C | CA413851985 | COL4A5 | c.4118A>C (p.Gln1373Pro) c.4100A>C (p.Gln1367Pro) n.612A>C n.521A>C c.4109A>C (p.Gln1370Pro) c.3794A>C (p.Gln1265Pro) c.1691A>C (p.Gln564Pro) c.4133A>C (p.Gln1378Pro) c.4124A>C (p.Gln1375Pro) c.4115A>C (p.Gln1372Pro) c.2453A>C (p.Gln818Pro) | |
| X | g.108681790A>G | CA413851988 | COL4A5 | c.4118A>G (p.Gln1373Arg) c.4100A>G (p.Gln1367Arg) n.612A>G n.521A>G c.4109A>G (p.Gln1370Arg) c.3794A>G (p.Gln1265Arg) c.1691A>G (p.Gln564Arg) c.4133A>G (p.Gln1378Arg) c.4124A>G (p.Gln1375Arg) c.4115A>G (p.Gln1372Arg) c.2453A>G (p.Gln818Arg) | |
| X | g.108681790A>T | CA413851990 | COL4A5 | c.4118A>T (p.Gln1373Leu) c.4100A>T (p.Gln1367Leu) n.612A>T n.521A>T c.4109A>T (p.Gln1370Leu) c.3794A>T (p.Gln1265Leu) c.1691A>T (p.Gln564Leu) c.4133A>T (p.Gln1378Leu) c.4124A>T (p.Gln1375Leu) c.4115A>T (p.Gln1372Leu) c.2453A>T (p.Gln818Leu) | |
| X | g.108681792_108681793del | CA258986 | COL4A5 | c.4120_4121del (p.Ser1374TyrfsTer4) c.4102_4103del (p.Ser1368TyrfsTer4) n.614_615del n.523_524del c.4111_4112del (p.Ser1371TyrfsTer4) c.3796_3797del (p.Ser1266TyrfsTer4) c.1693_1694del (p.Ser565TyrfsTer4) c.4135_4136del (p.Ser1379TyrfsTer4) c.4126_4127del (p.Ser1376TyrfsTer4) c.4117_4118del (p.Ser1373TyrfsTer4) c.2455_2456del (p.Ser819TyrfsTer4) | dbSNP |
| X | g.108681791_108681795dup | CA2695235230 | COL4A5 | c.4119_4123dup (p.Ile1375ArgfsTer4) c.4101_4105dup (p.Ile1369ArgfsTer4) n.613_617dup n.522_526dup c.4110_4114dup (p.Ile1372ArgfsTer4) c.3795_3799dup (p.Ile1267ArgfsTer4) c.1692_1696dup (p.Ile566ArgfsTer4) c.4134_4138dup (p.Ile1380ArgfsTer4) c.4125_4129dup (p.Ile1377ArgfsTer4) c.4116_4120dup (p.Ile1374ArgfsTer4) c.2454_2458dup (p.Ile820ArgfsTer4) | |
| X | g.108681791G>A | CA517923812 | COL4A5 | c.4119G>A (p.Gln1373=) c.4101G>A (p.Gln1367=) n.613G>A n.522G>A c.4110G>A (p.Gln1370=) c.3795G>A (p.Gln1265=) c.1692G>A (p.Gln564=) c.4134G>A (p.Gln1378=) c.4125G>A (p.Gln1375=) c.4116G>A (p.Gln1372=) c.2454G>A (p.Gln818=) | |
| X | g.108681791G>C | CA413851994 | COL4A5 | c.4119G>C (p.Gln1373His) c.4101G>C (p.Gln1367His) n.613G>C n.522G>C c.4110G>C (p.Gln1370His) c.3795G>C (p.Gln1265His) c.1692G>C (p.Gln564His) c.4134G>C (p.Gln1378His) c.4125G>C (p.Gln1375His) c.4116G>C (p.Gln1372His) c.2454G>C (p.Gln818His) | |
| X | g.108681791G>T | CA413851995 | COL4A5 | c.4119G>T (p.Gln1373His) c.4101G>T (p.Gln1367His) n.613G>T n.522G>T c.4110G>T (p.Gln1370His) c.3795G>T (p.Gln1265His) c.1692G>T (p.Gln564His) c.4134G>T (p.Gln1378His) c.4125G>T (p.Gln1375His) c.4116G>T (p.Gln1372His) c.2454G>T (p.Gln818His) | |
| X | g.108681792A>C | CA413851999 | COL4A5 | c.4120A>C (p.Ser1374Arg) c.4102A>C (p.Ser1368Arg) n.614A>C n.523A>C c.4111A>C (p.Ser1371Arg) c.3796A>C (p.Ser1266Arg) c.1693A>C (p.Ser565Arg) c.4135A>C (p.Ser1379Arg) c.4126A>C (p.Ser1376Arg) c.4117A>C (p.Ser1373Arg) c.2455A>C (p.Ser819Arg) | |
| X | g.108681792A>G | CA413851997 | COL4A5 | c.4120A>G (p.Ser1374Gly) c.4102A>G (p.Ser1368Gly) n.614A>G n.523A>G c.4111A>G (p.Ser1371Gly) c.3796A>G (p.Ser1266Gly) c.1693A>G (p.Ser565Gly) c.4135A>G (p.Ser1379Gly) c.4126A>G (p.Ser1376Gly) c.4117A>G (p.Ser1373Gly) c.2455A>G (p.Ser819Gly) | |
| X | g.108681792A>T | CA413851996 | COL4A5 | c.4120A>T (p.Ser1374Cys) c.4102A>T (p.Ser1368Cys) n.614A>T n.523A>T c.4111A>T (p.Ser1371Cys) c.3796A>T (p.Ser1266Cys) c.1693A>T (p.Ser565Cys) c.4135A>T (p.Ser1379Cys) c.4126A>T (p.Ser1376Cys) c.4117A>T (p.Ser1373Cys) c.2455A>T (p.Ser819Cys) | |
| X | g.108681793G>A | CA413852001 | COL4A5 | c.4121G>A (p.Ser1374Asn) c.4103G>A (p.Ser1368Asn) n.615G>A n.524G>A c.4112G>A (p.Ser1371Asn) c.3797G>A (p.Ser1266Asn) c.1694G>A (p.Ser565Asn) c.4136G>A (p.Ser1379Asn) c.4127G>A (p.Ser1376Asn) c.4118G>A (p.Ser1373Asn) c.2456G>A (p.Ser819Asn) | |
| X | g.108681793G>C | CA413852002 | COL4A5 | c.4121G>C (p.Ser1374Thr) c.4103G>C (p.Ser1368Thr) n.615G>C n.524G>C c.4112G>C (p.Ser1371Thr) c.3797G>C (p.Ser1266Thr) c.1694G>C (p.Ser565Thr) c.4136G>C (p.Ser1379Thr) c.4127G>C (p.Ser1376Thr) c.4118G>C (p.Ser1373Thr) c.2456G>C (p.Ser819Thr) | |
| X | g.108681793G>T | CA413852004 | COL4A5 | c.4121G>T (p.Ser1374Ile) c.4103G>T (p.Ser1368Ile) n.615G>T n.524G>T c.4112G>T (p.Ser1371Ile) c.3797G>T (p.Ser1266Ile) c.1694G>T (p.Ser565Ile) c.4136G>T (p.Ser1379Ile) c.4127G>T (p.Ser1376Ile) c.4118G>T (p.Ser1373Ile) c.2456G>T (p.Ser819Ile) | |
| X | g.108681794T>A | CA413852006 | COL4A5 | c.4122T>A (p.Ser1374Arg) c.4104T>A (p.Ser1368Arg) n.616T>A n.525T>A c.4113T>A (p.Ser1371Arg) c.3798T>A (p.Ser1266Arg) c.1695T>A (p.Ser565Arg) c.4137T>A (p.Ser1379Arg) c.4128T>A (p.Ser1376Arg) c.4119T>A (p.Ser1373Arg) c.2457T>A (p.Ser819Arg) | |
| X | g.108681794T>C | CA517923813 | COL4A5 | c.4122T>C (p.Ser1374=) c.4104T>C (p.Ser1368=) n.616T>C n.525T>C c.4113T>C (p.Ser1371=) c.3798T>C (p.Ser1266=) c.1695T>C (p.Ser565=) c.4137T>C (p.Ser1379=) c.4128T>C (p.Ser1376=) c.4119T>C (p.Ser1373=) c.2457T>C (p.Ser819=) | gnomAD v4 |
| X | g.108681794T>G | CA413852008 | COL4A5 | c.4122T>G (p.Ser1374Arg) c.4104T>G (p.Ser1368Arg) n.616T>G n.525T>G c.4113T>G (p.Ser1371Arg) c.3798T>G (p.Ser1266Arg) c.1695T>G (p.Ser565Arg) c.4137T>G (p.Ser1379Arg) c.4128T>G (p.Ser1376Arg) c.4119T>G (p.Ser1373Arg) c.2457T>G (p.Ser819Arg) | |
| X | g.108681796_108681804dup | CA2739273723 | COL4A5 | c.4124_4132dup (p.Ile1377_Lys1378insIleIleIle) c.4106_4114dup (p.Ile1371_Lys1372insIleIleIle) n.618_626dup n.527_535dup c.4115_4123dup (p.Ile1374_Lys1375insIleIleIle) c.3800_3808dup (p.Ile1269_Lys1270insIleIleIle) c.1697_1705dup (p.Ile568_Lys569insIleIleIle) c.4139_4147dup (p.Ile1382_Lys1383insIleIleIle) c.4130_4138dup (p.Ile1379_Lys1380insIleIleIle) c.4121_4129dup (p.Ile1376_Lys1377insIleIleIle) c.2459_2467dup (p.Ile822_Lys823insIleIleIle) | ClinVar |
| X | g.108681795A>C | CA413852011 | COL4A5 | c.4123A>C (p.Ile1375Leu) c.4105A>C (p.Ile1369Leu) n.617A>C n.526A>C c.4114A>C (p.Ile1372Leu) c.3799A>C (p.Ile1267Leu) c.1696A>C (p.Ile566Leu) c.4138A>C (p.Ile1380Leu) c.4129A>C (p.Ile1377Leu) c.4120A>C (p.Ile1374Leu) c.2458A>C (p.Ile820Leu) | |
| X | g.108681795A>G | CA413852015 | COL4A5 | c.4123A>G (p.Ile1375Val) c.4105A>G (p.Ile1369Val) n.617A>G n.526A>G c.4114A>G (p.Ile1372Val) c.3799A>G (p.Ile1267Val) c.1696A>G (p.Ile566Val) c.4138A>G (p.Ile1380Val) c.4129A>G (p.Ile1377Val) c.4120A>G (p.Ile1374Val) c.2458A>G (p.Ile820Val) | gnomAD v4 |
| X | g.108681795A>T | CA413852013 | COL4A5 | c.4123A>T (p.Ile1375Phe) c.4105A>T (p.Ile1369Phe) n.617A>T n.526A>T c.4114A>T (p.Ile1372Phe) c.3799A>T (p.Ile1267Phe) c.1696A>T (p.Ile566Phe) c.4138A>T (p.Ile1380Phe) c.4129A>T (p.Ile1377Phe) c.4120A>T (p.Ile1374Phe) c.2458A>T (p.Ile820Phe) | |
| X | g.108681796T>A | CA413852018 | COL4A5 | c.4124T>A (p.Ile1375Asn) c.4106T>A (p.Ile1369Asn) n.618T>A n.527T>A c.4115T>A (p.Ile1372Asn) c.3800T>A (p.Ile1267Asn) c.1697T>A (p.Ile566Asn) c.4139T>A (p.Ile1380Asn) c.4130T>A (p.Ile1377Asn) c.4121T>A (p.Ile1374Asn) c.2459T>A (p.Ile820Asn) | |
| X | g.108681796T>C | CA413852019 | COL4A5 | c.4124T>C (p.Ile1375Thr) c.4106T>C (p.Ile1369Thr) n.618T>C n.527T>C c.4115T>C (p.Ile1372Thr) c.3800T>C (p.Ile1267Thr) c.1697T>C (p.Ile566Thr) c.4139T>C (p.Ile1380Thr) c.4130T>C (p.Ile1377Thr) c.4121T>C (p.Ile1374Thr) c.2459T>C (p.Ile820Thr) | |
| X | g.108681796T>G | CA413852020 | COL4A5 | c.4124T>G (p.Ile1375Ser) c.4106T>G (p.Ile1369Ser) n.618T>G n.527T>G c.4115T>G (p.Ile1372Ser) c.3800T>G (p.Ile1267Ser) c.1697T>G (p.Ile566Ser) c.4139T>G (p.Ile1380Ser) c.4130T>G (p.Ile1377Ser) c.4121T>G (p.Ile1374Ser) c.2459T>G (p.Ile820Ser) | |
| X | g.108681797C>A | CA517923814 | COL4A5 | c.4125C>A (p.Ile1375=) c.4107C>A (p.Ile1369=) n.619C>A n.528C>A c.4116C>A (p.Ile1372=) c.3801C>A (p.Ile1267=) c.1698C>A (p.Ile566=) c.4140C>A (p.Ile1380=) c.4131C>A (p.Ile1377=) c.4122C>A (p.Ile1374=) c.2460C>A (p.Ile820=) | gnomAD v4 |
| X | g.108681797C= | CA2450717226 | COL4A5 | c.4125C= (p.Ile1375=) c.4107C= (p.Ile1369=) n.619C= n.528C= c.4116C= (p.Ile1372=) c.3801C= (p.Ile1267=) c.1698C= (p.Ile566=) c.4140C= (p.Ile1380=) c.4131C= (p.Ile1377=) c.4122C= (p.Ile1374=) c.2460C= (p.Ile820=) | |
| X | g.108681797C>G | CA413852021 | COL4A5 | c.4125C>G (p.Ile1375Met) c.4107C>G (p.Ile1369Met) n.619C>G n.528C>G c.4116C>G (p.Ile1372Met) c.3801C>G (p.Ile1267Met) c.1698C>G (p.Ile566Met) c.4140C>G (p.Ile1380Met) c.4131C>G (p.Ile1377Met) c.4122C>G (p.Ile1374Met) c.2460C>G (p.Ile820Met) | |
| X | g.108681797C>T | CA10489296 | COL4A5 | c.4125C>T (p.Ile1375=) c.4107C>T (p.Ile1369=) n.619C>T n.528C>T c.4116C>T (p.Ile1372=) c.3801C>T (p.Ile1267=) c.1698C>T (p.Ile566=) c.4140C>T (p.Ile1380=) c.4131C>T (p.Ile1377=) c.4122C>T (p.Ile1374=) c.2460C>T (p.Ile820=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681798A>C | CA413852023 | COL4A5 | c.4126A>C (p.Ile1376Leu) c.4108A>C (p.Ile1370Leu) n.620A>C n.529A>C c.4117A>C (p.Ile1373Leu) c.3802A>C (p.Ile1268Leu) c.1699A>C (p.Ile567Leu) c.4141A>C (p.Ile1381Leu) c.4132A>C (p.Ile1378Leu) c.4123A>C (p.Ile1375Leu) c.2461A>C (p.Ile821Leu) | |
| X | g.108681798A>G | CA413852030 | COL4A5 | c.4126A>G (p.Ile1376Val) c.4108A>G (p.Ile1370Val) n.620A>G n.529A>G c.4117A>G (p.Ile1373Val) c.3802A>G (p.Ile1268Val) c.1699A>G (p.Ile567Val) c.4141A>G (p.Ile1381Val) c.4132A>G (p.Ile1378Val) c.4123A>G (p.Ile1375Val) c.2461A>G (p.Ile821Val) | gnomAD v4 |
| X | g.108681798A>T | CA413852032 | COL4A5 | c.4126A>T (p.Ile1376Leu) c.4108A>T (p.Ile1370Leu) n.620A>T n.529A>T c.4117A>T (p.Ile1373Leu) c.3802A>T (p.Ile1268Leu) c.1699A>T (p.Ile567Leu) c.4141A>T (p.Ile1381Leu) c.4132A>T (p.Ile1378Leu) c.4123A>T (p.Ile1375Leu) c.2461A>T (p.Ile821Leu) | |
| X | g.108681799T>A | CA413852035 | COL4A5 | c.4127T>A (p.Ile1376Lys) c.4109T>A (p.Ile1370Lys) n.621T>A n.530T>A c.4118T>A (p.Ile1373Lys) c.3803T>A (p.Ile1268Lys) c.1700T>A (p.Ile567Lys) c.4142T>A (p.Ile1381Lys) c.4133T>A (p.Ile1378Lys) c.4124T>A (p.Ile1375Lys) c.2462T>A (p.Ile821Lys) | |
| X | g.108681799T>C | CA413852036 | COL4A5 | c.4127T>C (p.Ile1376Thr) c.4109T>C (p.Ile1370Thr) n.621T>C n.530T>C c.4118T>C (p.Ile1373Thr) c.3803T>C (p.Ile1268Thr) c.1700T>C (p.Ile567Thr) c.4142T>C (p.Ile1381Thr) c.4133T>C (p.Ile1378Thr) c.4124T>C (p.Ile1375Thr) c.2462T>C (p.Ile821Thr) | gnomAD v4 |
| X | g.108681799T>G | CA413852037 | COL4A5 | c.4127T>G (p.Ile1376Arg) c.4109T>G (p.Ile1370Arg) n.621T>G n.530T>G c.4118T>G (p.Ile1373Arg) c.3803T>G (p.Ile1268Arg) c.1700T>G (p.Ile567Arg) c.4142T>G (p.Ile1381Arg) c.4133T>G (p.Ile1378Arg) c.4124T>G (p.Ile1375Arg) c.2462T>G (p.Ile821Arg) | |
| X | g.108681800A>C | CA517923815 | COL4A5 | c.4128A>C (p.Ile1376=) c.4110A>C (p.Ile1370=) n.622A>C n.531A>C c.4119A>C (p.Ile1373=) c.3804A>C (p.Ile1268=) c.1701A>C (p.Ile567=) c.4143A>C (p.Ile1381=) c.4134A>C (p.Ile1378=) c.4125A>C (p.Ile1375=) c.2463A>C (p.Ile821=) | |
| X | g.108681800A>G | CA413852038 | COL4A5 | c.4128A>G (p.Ile1376Met) c.4110A>G (p.Ile1370Met) n.622A>G n.531A>G c.4119A>G (p.Ile1373Met) c.3804A>G (p.Ile1268Met) c.1701A>G (p.Ile567Met) c.4143A>G (p.Ile1381Met) c.4134A>G (p.Ile1378Met) c.4125A>G (p.Ile1375Met) c.2463A>G (p.Ile821Met) |