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 |
|---|---|---|---|---|---|
| X | g.108681830_108681842delinsCCCTGGCCAGCCT | CA2450717235 | COL4A5 | c.4158_4170delinsCCCTGGCCAGCCT (p.Ile1386=) c.4140_4152delinsCCCTGGCCAGCCT (p.Ile1380=) n.652_664delinsCCCTGGCCAGCCT n.561_573delinsCCCTGGCCAGCCT c.4149_4161delinsCCCTGGCCAGCCT (p.Ile1383=) c.3834_3846delinsCCCTGGCCAGCCT (p.Ile1278=) c.1731_1743delinsCCCTGGCCAGCCT (p.Ile577=) c.4173_4185delinsCCCTGGCCAGCCT (p.Ile1391=) c.4164_4176delinsCCCTGGCCAGCCT (p.Ile1388=) c.4155_4167delinsCCCTGGCCAGCCT (p.Ile1385=) c.2493_2505delinsCCCTGGCCAGCCT (p.Ile831=) | |
| X | g.108681831_108681842del | CA658824368 | COL4A5 | c.4159_4170del (p.Pro1387_Pro1390del) c.4141_4152del (p.Pro1381_Pro1384del) n.653_664del n.562_573del c.4150_4161del (p.Pro1384_Pro1387del) c.3835_3846del (p.Pro1279_Pro1282del) c.1732_1743del (p.Pro578_Pro581del) c.4174_4185del (p.Pro1392_Pro1395del) c.4165_4176del (p.Pro1389_Pro1392del) c.4156_4167del (p.Pro1386_Pro1389del) c.2494_2505del (p.Pro832_Pro835del) | ClinVar dbSNP |
| X | g.108681840C>A | CA413852251 | COL4A5 | c.4168C>A (p.Pro1390Thr) c.4150C>A (p.Pro1384Thr) n.662C>A n.571C>A c.4159C>A (p.Pro1387Thr) c.3844C>A (p.Pro1282Thr) c.1741C>A (p.Pro581Thr) c.4183C>A (p.Pro1395Thr) c.4174C>A (p.Pro1392Thr) c.4165C>A (p.Pro1389Thr) c.2503C>A (p.Pro835Thr) | |
| X | g.108681840C>G | CA413852252 | COL4A5 | c.4168C>G (p.Pro1390Ala) c.4150C>G (p.Pro1384Ala) n.662C>G n.571C>G c.4159C>G (p.Pro1387Ala) c.3844C>G (p.Pro1282Ala) c.1741C>G (p.Pro581Ala) c.4183C>G (p.Pro1395Ala) c.4174C>G (p.Pro1392Ala) c.4165C>G (p.Pro1389Ala) c.2503C>G (p.Pro835Ala) | |
| X | g.108681840C>T | CA413852254 | COL4A5 | c.4168C>T (p.Pro1390Ser) c.4150C>T (p.Pro1384Ser) n.662C>T n.571C>T c.4159C>T (p.Pro1387Ser) c.3844C>T (p.Pro1282Ser) c.1741C>T (p.Pro581Ser) c.4183C>T (p.Pro1395Ser) c.4174C>T (p.Pro1392Ser) c.4165C>T (p.Pro1389Ser) c.2503C>T (p.Pro835Ser) | gnomAD v4 |
| X | g.108681841del | CA2573051218 | COL4A5 | c.4169del (p.Pro1390LeufsTer3) c.4151del (p.Pro1384LeufsTer3) n.663del n.572del c.4160del (p.Pro1387LeufsTer3) c.3845del (p.Pro1282LeufsTer3) c.1742del (p.Pro581LeufsTer3) c.4184del (p.Pro1395LeufsTer3) c.4175del (p.Pro1392LeufsTer3) c.4166del (p.Pro1389LeufsTer3) c.2504del (p.Pro835LeufsTer3) | |
| X | g.108681841C>A | CA413852256 | COL4A5 | c.4169C>A (p.Pro1390His) c.4151C>A (p.Pro1384His) n.663C>A n.572C>A c.4160C>A (p.Pro1387His) c.3845C>A (p.Pro1282His) c.1742C>A (p.Pro581His) c.4184C>A (p.Pro1395His) c.4175C>A (p.Pro1392His) c.4166C>A (p.Pro1389His) c.2504C>A (p.Pro835His) | |
| X | g.108681841C>G | CA413852260 | COL4A5 | c.4169C>G (p.Pro1390Arg) c.4151C>G (p.Pro1384Arg) n.663C>G n.572C>G c.4160C>G (p.Pro1387Arg) c.3845C>G (p.Pro1282Arg) c.1742C>G (p.Pro581Arg) c.4184C>G (p.Pro1395Arg) c.4175C>G (p.Pro1392Arg) c.4166C>G (p.Pro1389Arg) c.2504C>G (p.Pro835Arg) | |
| X | g.108681841C>T | CA413852262 | COL4A5 | c.4169C>T (p.Pro1390Leu) c.4151C>T (p.Pro1384Leu) n.663C>T n.572C>T c.4160C>T (p.Pro1387Leu) c.3845C>T (p.Pro1282Leu) c.1742C>T (p.Pro581Leu) c.4184C>T (p.Pro1395Leu) c.4175C>T (p.Pro1392Leu) c.4166C>T (p.Pro1389Leu) c.2504C>T (p.Pro835Leu) | |
| X | g.108681842T>A | CA517923848 | COL4A5 | c.4170T>A (p.Pro1390=) c.4152T>A (p.Pro1384=) n.664T>A n.573T>A c.4161T>A (p.Pro1387=) c.3846T>A (p.Pro1282=) c.1743T>A (p.Pro581=) c.4185T>A (p.Pro1395=) c.4176T>A (p.Pro1392=) c.4167T>A (p.Pro1389=) c.2505T>A (p.Pro835=) | |
| X | g.108681842T>C | CA517923849 | COL4A5 | c.4170T>C (p.Pro1390=) c.4152T>C (p.Pro1384=) n.664T>C n.573T>C c.4161T>C (p.Pro1387=) c.3846T>C (p.Pro1282=) c.1743T>C (p.Pro581=) c.4185T>C (p.Pro1395=) c.4176T>C (p.Pro1392=) c.4167T>C (p.Pro1389=) c.2505T>C (p.Pro835=) | |
| X | g.108681842T>G | CA517923850 | COL4A5 | c.4170T>G (p.Pro1390=) c.4152T>G (p.Pro1384=) n.664T>G n.573T>G c.4161T>G (p.Pro1387=) c.3846T>G (p.Pro1282=) c.1743T>G (p.Pro581=) c.4185T>G (p.Pro1395=) c.4176T>G (p.Pro1392=) c.4167T>G (p.Pro1389=) c.2505T>G (p.Pro835=) | |
| X | g.108681843G>A | CA413852265 | COL4A5 | c.4171G>A (p.Gly1391Arg) c.4153G>A (p.Gly1385Arg) n.665G>A n.574G>A c.4162G>A (p.Gly1388Arg) c.3847G>A (p.Gly1283Arg) c.1744G>A (p.Gly582Arg) c.4186G>A (p.Gly1396Arg) c.4177G>A (p.Gly1393Arg) c.4168G>A (p.Gly1390Arg) c.2506G>A (p.Gly836Arg) | |
| X | g.108681843G>C | CA413852266 | COL4A5 | c.4171G>C (p.Gly1391Arg) c.4153G>C (p.Gly1385Arg) n.665G>C n.574G>C c.4162G>C (p.Gly1388Arg) c.3847G>C (p.Gly1283Arg) c.1744G>C (p.Gly582Arg) c.4186G>C (p.Gly1396Arg) c.4177G>C (p.Gly1393Arg) c.4168G>C (p.Gly1390Arg) c.2506G>C (p.Gly836Arg) | |
| X | g.108681843G>T | CA413852270 | COL4A5 | c.4171G>T (p.Gly1391Trp) c.4153G>T (p.Gly1385Trp) n.665G>T n.574G>T c.4162G>T (p.Gly1388Trp) c.3847G>T (p.Gly1283Trp) c.1744G>T (p.Gly582Trp) c.4186G>T (p.Gly1396Trp) c.4177G>T (p.Gly1393Trp) c.4168G>T (p.Gly1390Trp) c.2506G>T (p.Gly836Trp) | |
| X | g.108681844G>A | CA413852279 | COL4A5 | c.4172G>A (p.Gly1391Glu) c.4154G>A (p.Gly1385Glu) n.666G>A n.575G>A c.4163G>A (p.Gly1388Glu) c.3848G>A (p.Gly1283Glu) c.1745G>A (p.Gly582Glu) c.4187G>A (p.Gly1396Glu) c.4178G>A (p.Gly1393Glu) c.4169G>A (p.Gly1390Glu) c.2507G>A (p.Gly836Glu) | |
| X | g.108681844G>C | CA413852281 | COL4A5 | c.4172G>C (p.Gly1391Ala) c.4154G>C (p.Gly1385Ala) n.666G>C n.575G>C c.4163G>C (p.Gly1388Ala) c.3848G>C (p.Gly1283Ala) c.1745G>C (p.Gly582Ala) c.4187G>C (p.Gly1396Ala) c.4178G>C (p.Gly1393Ala) c.4169G>C (p.Gly1390Ala) c.2507G>C (p.Gly836Ala) | |
| X | g.108681844G= | CA2450717238 | COL4A5 | c.4172G= (p.Gly1391=) c.4154G= (p.Gly1385=) n.666G= n.575G= c.4163G= (p.Gly1388=) c.3848G= (p.Gly1283=) c.1745G= (p.Gly582=) c.4187G= (p.Gly1396=) c.4178G= (p.Gly1393=) c.4169G= (p.Gly1390=) c.2507G= (p.Gly836=) | |
| X | g.108681844G>T | CA413852277 | COL4A5 | c.4172G>T (p.Gly1391Val) c.4154G>T (p.Gly1385Val) n.666G>T n.575G>T c.4163G>T (p.Gly1388Val) c.3848G>T (p.Gly1283Val) c.1745G>T (p.Gly582Val) c.4187G>T (p.Gly1396Val) c.4178G>T (p.Gly1393Val) c.4169G>T (p.Gly1390Val) c.2507G>T (p.Gly836Val) | ClinVar dbSNP |
| X | g.108681845G>A | CA517923851 | COL4A5 | c.4173G>A (p.Gly1391=) c.4155G>A (p.Gly1385=) n.667G>A n.576G>A c.4164G>A (p.Gly1388=) c.3849G>A (p.Gly1283=) c.1746G>A (p.Gly582=) c.4188G>A (p.Gly1396=) c.4179G>A (p.Gly1393=) c.4170G>A (p.Gly1390=) c.2508G>A (p.Gly836=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108681845G>C | CA517923852 | COL4A5 | c.4173G>C (p.Gly1391=) c.4155G>C (p.Gly1385=) n.667G>C n.576G>C c.4164G>C (p.Gly1388=) c.3849G>C (p.Gly1283=) c.1746G>C (p.Gly582=) c.4188G>C (p.Gly1396=) c.4179G>C (p.Gly1393=) c.4170G>C (p.Gly1390=) c.2508G>C (p.Gly836=) | |
| X | g.108681845G= | CA2450717239 | COL4A5 | c.4173G= (p.Gly1391=) c.4155G= (p.Gly1385=) n.667G= n.576G= c.4164G= (p.Gly1388=) c.3849G= (p.Gly1283=) c.1746G= (p.Gly582=) c.4188G= (p.Gly1396=) c.4179G= (p.Gly1393=) c.4170G= (p.Gly1390=) c.2508G= (p.Gly836=) | |
| X | g.108681845G>T | CA517923853 | COL4A5 | c.4173G>T (p.Gly1391=) c.4155G>T (p.Gly1385=) n.667G>T n.576G>T c.4164G>T (p.Gly1388=) c.3849G>T (p.Gly1283=) c.1746G>T (p.Gly582=) c.4188G>T (p.Gly1396=) c.4179G>T (p.Gly1393=) c.4170G>T (p.Gly1390=) c.2508G>T (p.Gly836=) | |
| X | g.108681846C>A | CA413852284 | COL4A5 | c.4174C>A (p.Leu1392Ile) c.4156C>A (p.Leu1386Ile) n.668C>A n.577C>A c.4165C>A (p.Leu1389Ile) c.3850C>A (p.Leu1284Ile) c.1747C>A (p.Leu583Ile) c.4189C>A (p.Leu1397Ile) c.4180C>A (p.Leu1394Ile) c.4171C>A (p.Leu1391Ile) c.2509C>A (p.Leu837Ile) | |
| X | g.108681846C>G | CA413852293 | COL4A5 | c.4174C>G (p.Leu1392Val) c.4156C>G (p.Leu1386Val) n.668C>G n.577C>G c.4165C>G (p.Leu1389Val) c.3850C>G (p.Leu1284Val) c.1747C>G (p.Leu583Val) c.4189C>G (p.Leu1397Val) c.4180C>G (p.Leu1394Val) c.4171C>G (p.Leu1391Val) c.2509C>G (p.Leu837Val) | |
| X | g.108681846C>T | CA517923855 | COL4A5 | c.4174C>T (p.Leu1392=) c.4156C>T (p.Leu1386=) n.668C>T n.577C>T c.4165C>T (p.Leu1389=) c.3850C>T (p.Leu1284=) c.1747C>T (p.Leu583=) c.4189C>T (p.Leu1397=) c.4180C>T (p.Leu1394=) c.4171C>T (p.Leu1391=) c.2509C>T (p.Leu837=) | |
| X | g.108681847T>A | CA413852295 | COL4A5 | c.4175T>A (p.Leu1392Gln) c.4157T>A (p.Leu1386Gln) n.669T>A n.578T>A c.4166T>A (p.Leu1389Gln) c.3851T>A (p.Leu1284Gln) c.1748T>A (p.Leu583Gln) c.4190T>A (p.Leu1397Gln) c.4181T>A (p.Leu1394Gln) c.4172T>A (p.Leu1391Gln) c.2510T>A (p.Leu837Gln) | |
| X | g.108681847T>C | CA10489300 | COL4A5 | c.4175T>C (p.Leu1392Pro) c.4157T>C (p.Leu1386Pro) n.669T>C n.578T>C c.4166T>C (p.Leu1389Pro) c.3851T>C (p.Leu1284Pro) c.1748T>C (p.Leu583Pro) c.4190T>C (p.Leu1397Pro) c.4181T>C (p.Leu1394Pro) c.4172T>C (p.Leu1391Pro) c.2510T>C (p.Leu837Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681847T>G | CA413852297 | COL4A5 | c.4175T>G (p.Leu1392Arg) c.4157T>G (p.Leu1386Arg) n.669T>G n.578T>G c.4166T>G (p.Leu1389Arg) c.3851T>G (p.Leu1284Arg) c.1748T>G (p.Leu583Arg) c.4190T>G (p.Leu1397Arg) c.4181T>G (p.Leu1394Arg) c.4172T>G (p.Leu1391Arg) c.2510T>G (p.Leu837Arg) | |
| X | g.108681847T= | CA2450717240 | COL4A5 | c.4175T= (p.Leu1392=) c.4157T= (p.Leu1386=) n.669T= n.578T= c.4166T= (p.Leu1389=) c.3851T= (p.Leu1284=) c.1748T= (p.Leu583=) c.4190T= (p.Leu1397=) c.4181T= (p.Leu1394=) c.4172T= (p.Leu1391=) c.2510T= (p.Leu837=) | |
| X | g.108681848A= | CA2450717241 | COL4A5 | c.4176A= (p.Leu1392=) c.4158A= (p.Leu1386=) n.670A= n.579A= c.4167A= (p.Leu1389=) c.3852A= (p.Leu1284=) c.1749A= (p.Leu583=) c.4191A= (p.Leu1397=) c.4182A= (p.Leu1394=) c.4173A= (p.Leu1391=) c.2511A= (p.Leu837=) | |
| X | g.108681848A>C | CA517923856 | COL4A5 | c.4176A>C (p.Leu1392=) c.4158A>C (p.Leu1386=) n.670A>C n.579A>C c.4167A>C (p.Leu1389=) c.3852A>C (p.Leu1284=) c.1749A>C (p.Leu583=) c.4191A>C (p.Leu1397=) c.4182A>C (p.Leu1394=) c.4173A>C (p.Leu1391=) c.2511A>C (p.Leu837=) | |
| X | g.108681848A>G | CA517923857 | COL4A5 | c.4176A>G (p.Leu1392=) c.4158A>G (p.Leu1386=) n.670A>G n.579A>G c.4167A>G (p.Leu1389=) c.3852A>G (p.Leu1284=) c.1749A>G (p.Leu583=) c.4191A>G (p.Leu1397=) c.4182A>G (p.Leu1394=) c.4173A>G (p.Leu1391=) c.2511A>G (p.Leu837=) | dbSNP |
| X | g.108681848A>T | CA517923858 | COL4A5 | c.4176A>T (p.Leu1392=) c.4158A>T (p.Leu1386=) n.670A>T n.579A>T c.4167A>T (p.Leu1389=) c.3852A>T (p.Leu1284=) c.1749A>T (p.Leu583=) c.4191A>T (p.Leu1397=) c.4182A>T (p.Leu1394=) c.4173A>T (p.Leu1391=) c.2511A>T (p.Leu837=) | COSMIC |
| X | g.108681849A>C | CA413852299 | COL4A5 | c.4177A>C (p.Lys1393Gln) c.4159A>C (p.Lys1387Gln) n.671A>C n.580A>C c.4168A>C (p.Lys1390Gln) c.3853A>C (p.Lys1285Gln) c.1750A>C (p.Lys584Gln) c.4192A>C (p.Lys1398Gln) c.4183A>C (p.Lys1395Gln) c.4174A>C (p.Lys1392Gln) c.2512A>C (p.Lys838Gln) | |
| X | g.108681849A>G | CA413852300 | COL4A5 | c.4177A>G (p.Lys1393Glu) c.4159A>G (p.Lys1387Glu) n.671A>G n.580A>G c.4168A>G (p.Lys1390Glu) c.3853A>G (p.Lys1285Glu) c.1750A>G (p.Lys584Glu) c.4192A>G (p.Lys1398Glu) c.4183A>G (p.Lys1395Glu) c.4174A>G (p.Lys1392Glu) c.2512A>G (p.Lys838Glu) | |
| X | g.108681849A>T | CA413852303 | COL4A5 | c.4177A>T (p.Lys1393Ter) c.4159A>T (p.Lys1387Ter) n.671A>T n.580A>T c.4168A>T (p.Lys1390Ter) c.3853A>T (p.Lys1285Ter) c.1750A>T (p.Lys584Ter) c.4192A>T (p.Lys1398Ter) c.4183A>T (p.Lys1395Ter) c.4174A>T (p.Lys1392Ter) c.2512A>T (p.Lys838Ter) | |
| X | g.108681850A= | CA2450717242 | COL4A5 | c.4178A= (p.Lys1393=) c.4160A= (p.Lys1387=) n.672A= n.581A= c.4169A= (p.Lys1390=) c.3854A= (p.Lys1285=) c.1751A= (p.Lys584=) c.4193A= (p.Lys1398=) c.4184A= (p.Lys1395=) c.4175A= (p.Lys1392=) c.2513A= (p.Lys838=) | |
| X | g.108681850A>C | CA413852313 | COL4A5 | c.4178A>C (p.Lys1393Thr) c.4160A>C (p.Lys1387Thr) n.672A>C n.581A>C c.4169A>C (p.Lys1390Thr) c.3854A>C (p.Lys1285Thr) c.1751A>C (p.Lys584Thr) c.4193A>C (p.Lys1398Thr) c.4184A>C (p.Lys1395Thr) c.4175A>C (p.Lys1392Thr) c.2513A>C (p.Lys838Thr) | |
| X | g.108681850A>G | CA413852316 | COL4A5 | c.4178A>G (p.Lys1393Arg) c.4160A>G (p.Lys1387Arg) n.672A>G n.581A>G c.4169A>G (p.Lys1390Arg) c.3854A>G (p.Lys1285Arg) c.1751A>G (p.Lys584Arg) c.4193A>G (p.Lys1398Arg) c.4184A>G (p.Lys1395Arg) c.4175A>G (p.Lys1392Arg) c.2513A>G (p.Lys838Arg) | gnomAD v4 |
| X | g.108681850A>T | CA413852317 | COL4A5 | c.4178A>T (p.Lys1393Met) c.4160A>T (p.Lys1387Met) n.672A>T n.581A>T c.4169A>T (p.Lys1390Met) c.3854A>T (p.Lys1285Met) c.1751A>T (p.Lys584Met) c.4193A>T (p.Lys1398Met) c.4184A>T (p.Lys1395Met) c.4175A>T (p.Lys1392Met) c.2513A>T (p.Lys838Met) | dbSNP |
| X | g.108681851G>A | CA517923859 | COL4A5 | c.4179G>A (p.Lys1393=) c.4161G>A (p.Lys1387=) n.673G>A n.582G>A c.4170G>A (p.Lys1390=) c.3855G>A (p.Lys1285=) c.1752G>A (p.Lys584=) c.4194G>A (p.Lys1398=) c.4185G>A (p.Lys1395=) c.4176G>A (p.Lys1392=) c.2514G>A (p.Lys838=) | |
| X | g.108681851G>C | CA413852318 | COL4A5 | c.4179G>C (p.Lys1393Asn) c.4161G>C (p.Lys1387Asn) n.673G>C n.582G>C c.4170G>C (p.Lys1390Asn) c.3855G>C (p.Lys1285Asn) c.1752G>C (p.Lys584Asn) c.4194G>C (p.Lys1398Asn) c.4185G>C (p.Lys1395Asn) c.4176G>C (p.Lys1392Asn) c.2514G>C (p.Lys838Asn) | |
| X | g.108681851G= | CA2450717243 | COL4A5 | c.4179G= (p.Lys1393=) c.4161G= (p.Lys1387=) n.673G= n.582G= c.4170G= (p.Lys1390=) c.3855G= (p.Lys1285=) c.1752G= (p.Lys584=) c.4194G= (p.Lys1398=) c.4185G= (p.Lys1395=) c.4176G= (p.Lys1392=) c.2514G= (p.Lys838=) | |
| X | g.108681851G>T | CA413852319 | COL4A5 | c.4179G>T (p.Lys1393Asn) c.4161G>T (p.Lys1387Asn) n.673G>T n.582G>T c.4170G>T (p.Lys1390Asn) c.3855G>T (p.Lys1285Asn) c.1752G>T (p.Lys584Asn) c.4194G>T (p.Lys1398Asn) c.4185G>T (p.Lys1395Asn) c.4176G>T (p.Lys1392Asn) c.2514G>T (p.Lys838Asn) | gnomAD v4 |
| X | g.108681851_108681852insTCCT | CA258993 | COL4A5 | c.4179_4180insTCCT (p.Gly1394SerfsTer31) c.4161_4162insTCCT (p.Gly1388SerfsTer31) n.673_674insTCCT n.582_583insTCCT c.4170_4171insTCCT (p.Gly1391SerfsTer31) c.3855_3856insTCCT (p.Gly1286SerfsTer31) c.1752_1753insTCCT (p.Gly585SerfsTer31) c.4194_4195insTCCT (p.Gly1399SerfsTer31) c.4185_4186insTCCT (p.Gly1396SerfsTer31) c.4176_4177insTCCT (p.Gly1393SerfsTer31) c.2514_2515insTCCT (p.Gly839SerfsTer31) | dbSNP |
| X | g.108681852G>A | CA413852321 | COL4A5 | c.4180G>A (p.Gly1394Ser) c.4162G>A (p.Gly1388Ser) n.674G>A n.583G>A c.4171G>A (p.Gly1391Ser) c.3856G>A (p.Gly1286Ser) c.1753G>A (p.Gly585Ser) c.4195G>A (p.Gly1399Ser) c.4186G>A (p.Gly1396Ser) c.4177G>A (p.Gly1393Ser) c.2515G>A (p.Gly839Ser) | dbSNP |
| X | g.108681852G>C | CA413852323 | COL4A5 | c.4180G>C (p.Gly1394Arg) c.4162G>C (p.Gly1388Arg) n.674G>C n.583G>C c.4171G>C (p.Gly1391Arg) c.3856G>C (p.Gly1286Arg) c.1753G>C (p.Gly585Arg) c.4195G>C (p.Gly1399Arg) c.4186G>C (p.Gly1396Arg) c.4177G>C (p.Gly1393Arg) c.2515G>C (p.Gly839Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108681852G= | CA2450717244 | COL4A5 | c.4180G= (p.Gly1394=) c.4162G= (p.Gly1388=) n.674G= n.583G= c.4171G= (p.Gly1391=) c.3856G= (p.Gly1286=) c.1753G= (p.Gly585=) c.4195G= (p.Gly1399=) c.4186G= (p.Gly1396=) c.4177G= (p.Gly1393=) c.2515G= (p.Gly839=) | |
| X | g.108681852G>T | CA413852320 | COL4A5 | c.4180G>T (p.Gly1394Cys) c.4162G>T (p.Gly1388Cys) n.674G>T n.583G>T c.4171G>T (p.Gly1391Cys) c.3856G>T (p.Gly1286Cys) c.1753G>T (p.Gly585Cys) c.4195G>T (p.Gly1399Cys) c.4186G>T (p.Gly1396Cys) c.4177G>T (p.Gly1393Cys) c.2515G>T (p.Gly839Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |