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.108677501T>A | CA10489226 | COL4A5 | c.3810T>A (p.Gly1270=) c.3792T>A (p.Gly1264=) n.304T>A n.213T>A c.3801T>A (p.Gly1267=) c.3486T>A (p.Gly1162=) c.1383T>A (p.Gly461=) c.3825T>A (p.Gly1275=) c.3816T>A (p.Gly1272=) c.3807T>A (p.Gly1269=) c.2145T>A (p.Gly715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108677501T>C | CA517923274 | COL4A5 | c.3810T>C (p.Gly1270=) c.3792T>C (p.Gly1264=) n.304T>C n.213T>C c.3801T>C (p.Gly1267=) c.3486T>C (p.Gly1162=) c.1383T>C (p.Gly461=) c.3825T>C (p.Gly1275=) c.3816T>C (p.Gly1272=) c.3807T>C (p.Gly1269=) c.2145T>C (p.Gly715=) | gnomAD v4 |
| X | g.108677501T>G | CA517923273 | COL4A5 | c.3810T>G (p.Gly1270=) c.3792T>G (p.Gly1264=) n.304T>G n.213T>G c.3801T>G (p.Gly1267=) c.3486T>G (p.Gly1162=) c.1383T>G (p.Gly461=) c.3825T>G (p.Gly1275=) c.3816T>G (p.Gly1272=) c.3807T>G (p.Gly1269=) c.2145T>G (p.Gly715=) | |
| X | g.108677501T= | CA2450715753 | COL4A5 | c.3810T= (p.Gly1270=) c.3792T= (p.Gly1264=) n.304T= n.213T= c.3801T= (p.Gly1267=) c.3486T= (p.Gly1162=) c.1383T= (p.Gly461=) c.3825T= (p.Gly1275=) c.3816T= (p.Gly1272=) c.3807T= (p.Gly1269=) c.2145T= (p.Gly715=) | |
| X | g.108677502C>A | CA413850055 | COL4A5 | c.3811C>A (p.Leu1271Ile) c.3793C>A (p.Leu1265Ile) n.305C>A n.214C>A c.3802C>A (p.Leu1268Ile) c.3487C>A (p.Leu1163Ile) c.1384C>A (p.Leu462Ile) c.3826C>A (p.Leu1276Ile) c.3817C>A (p.Leu1273Ile) c.3808C>A (p.Leu1270Ile) c.2146C>A (p.Leu716Ile) | |
| X | g.108677502C>G | CA413850058 | COL4A5 | c.3811C>G (p.Leu1271Val) c.3793C>G (p.Leu1265Val) n.305C>G n.214C>G c.3802C>G (p.Leu1268Val) c.3487C>G (p.Leu1163Val) c.1384C>G (p.Leu462Val) c.3826C>G (p.Leu1276Val) c.3817C>G (p.Leu1273Val) c.3808C>G (p.Leu1270Val) c.2146C>G (p.Leu716Val) | |
| X | g.108677502C>T | CA517923275 | COL4A5 | c.3811C>T (p.Leu1271=) c.3793C>T (p.Leu1265=) n.305C>T n.214C>T c.3802C>T (p.Leu1268=) c.3487C>T (p.Leu1163=) c.1384C>T (p.Leu462=) c.3826C>T (p.Leu1276=) c.3817C>T (p.Leu1273=) c.3808C>T (p.Leu1270=) c.2146C>T (p.Leu716=) | |
| X | g.108677503T>A | CA413850060 | COL4A5 | c.3812T>A (p.Leu1271Gln) c.3794T>A (p.Leu1265Gln) n.306T>A n.215T>A c.3803T>A (p.Leu1268Gln) c.3488T>A (p.Leu1163Gln) c.1385T>A (p.Leu462Gln) c.3827T>A (p.Leu1276Gln) c.3818T>A (p.Leu1273Gln) c.3809T>A (p.Leu1270Gln) c.2147T>A (p.Leu716Gln) | |
| X | g.108677503T>C | CA413850062 | COL4A5 | c.3812T>C (p.Leu1271Pro) c.3794T>C (p.Leu1265Pro) n.306T>C n.215T>C c.3803T>C (p.Leu1268Pro) c.3488T>C (p.Leu1163Pro) c.1385T>C (p.Leu462Pro) c.3827T>C (p.Leu1276Pro) c.3818T>C (p.Leu1273Pro) c.3809T>C (p.Leu1270Pro) c.2147T>C (p.Leu716Pro) | |
| X | g.108677503T>G | CA413850065 | COL4A5 | c.3812T>G (p.Leu1271Arg) c.3794T>G (p.Leu1265Arg) n.306T>G n.215T>G c.3803T>G (p.Leu1268Arg) c.3488T>G (p.Leu1163Arg) c.1385T>G (p.Leu462Arg) c.3827T>G (p.Leu1276Arg) c.3818T>G (p.Leu1273Arg) c.3809T>G (p.Leu1270Arg) c.2147T>G (p.Leu716Arg) | |
| X | g.108677504A= | CA2450715754 | COL4A5 | c.3813A= (p.Leu1271=) c.3795A= (p.Leu1265=) n.307A= n.216A= c.3804A= (p.Leu1268=) c.3489A= (p.Leu1163=) c.1386A= (p.Leu462=) c.3828A= (p.Leu1276=) c.3819A= (p.Leu1273=) c.3810A= (p.Leu1270=) c.2148A= (p.Leu716=) | |
| X | g.108677504A>C | CA517923276 | COL4A5 | c.3813A>C (p.Leu1271=) c.3795A>C (p.Leu1265=) n.307A>C n.216A>C c.3804A>C (p.Leu1268=) c.3489A>C (p.Leu1163=) c.1386A>C (p.Leu462=) c.3828A>C (p.Leu1276=) c.3819A>C (p.Leu1273=) c.3810A>C (p.Leu1270=) c.2148A>C (p.Leu716=) | |
| X | g.108677504A>G | CA10489227 | COL4A5 | c.3813A>G (p.Leu1271=) c.3795A>G (p.Leu1265=) n.307A>G n.216A>G c.3804A>G (p.Leu1268=) c.3489A>G (p.Leu1163=) c.1386A>G (p.Leu462=) c.3828A>G (p.Leu1276=) c.3819A>G (p.Leu1273=) c.3810A>G (p.Leu1270=) c.2148A>G (p.Leu716=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.108677504A>T | CA517923277 | COL4A5 | c.3813A>T (p.Leu1271=) c.3795A>T (p.Leu1265=) n.307A>T n.216A>T c.3804A>T (p.Leu1268=) c.3489A>T (p.Leu1163=) c.1386A>T (p.Leu462=) c.3828A>T (p.Leu1276=) c.3819A>T (p.Leu1273=) c.3810A>T (p.Leu1270=) c.2148A>T (p.Leu716=) | COSMIC COSMIC |
| X | g.108677504_108677567delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT | CA2450715755 | COL4A5 | c.3813_3876delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1271=) c.3795_3858delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1265=) n.307_370delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT n.216_279delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT c.3804_3867delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1268=) c.3489_3552delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1163=) c.1386_1449delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu462=) c.3828_3891delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1276=) c.3819_3882delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1273=) c.3810_3873delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1270=) c.2148_2211delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu716=) | |
| X | g.108677505C>A | CA413850068 | COL4A5 | c.3814C>A (p.Pro1272Thr) c.3796C>A (p.Pro1266Thr) n.308C>A n.217C>A c.3805C>A (p.Pro1269Thr) c.3490C>A (p.Pro1164Thr) c.1387C>A (p.Pro463Thr) c.3829C>A (p.Pro1277Thr) c.3820C>A (p.Pro1274Thr) c.3811C>A (p.Pro1271Thr) c.2149C>A (p.Pro717Thr) | |
| X | g.108677505C>G | CA413850074 | COL4A5 | c.3814C>G (p.Pro1272Ala) c.3796C>G (p.Pro1266Ala) n.308C>G n.217C>G c.3805C>G (p.Pro1269Ala) c.3490C>G (p.Pro1164Ala) c.1387C>G (p.Pro463Ala) c.3829C>G (p.Pro1277Ala) c.3820C>G (p.Pro1274Ala) c.3811C>G (p.Pro1271Ala) c.2149C>G (p.Pro717Ala) | |
| X | g.108677505C>T | CA413850080 | COL4A5 | c.3814C>T (p.Pro1272Ser) c.3796C>T (p.Pro1266Ser) n.308C>T n.217C>T c.3805C>T (p.Pro1269Ser) c.3490C>T (p.Pro1164Ser) c.1387C>T (p.Pro463Ser) c.3829C>T (p.Pro1277Ser) c.3820C>T (p.Pro1274Ser) c.3811C>T (p.Pro1271Ser) c.2149C>T (p.Pro717Ser) | |
| X | g.108677510_108677572del | CA16609465 | COL4A5 | c.3819_3881del (p.Pro1274_Gly1294del) c.3801_3863del (p.Pro1268_Gly1288del) n.313_375del n.222_284del c.3810_3872del (p.Pro1271_Gly1291del) c.3495_3557del (p.Pro1166_Gly1186del) c.1392_1454del (p.Pro465_Gly485del) c.3834_3896del (p.Pro1279_Gly1299del) c.3825_3887del (p.Pro1276_Gly1296del) c.3816_3878del (p.Pro1273_Gly1293del) c.2154_2216del (p.Pro719_Gly739del) | ClinVar dbSNP |
| X | g.108677506C>A | CA413850087 | COL4A5 | c.3815C>A (p.Pro1272Gln) c.3797C>A (p.Pro1266Gln) n.309C>A n.218C>A c.3806C>A (p.Pro1269Gln) c.3491C>A (p.Pro1164Gln) c.1388C>A (p.Pro463Gln) c.3830C>A (p.Pro1277Gln) c.3821C>A (p.Pro1274Gln) c.3812C>A (p.Pro1271Gln) c.2150C>A (p.Pro717Gln) | gnomAD v4 |
| X | g.108677506C= | CA2450715756 | COL4A5 | c.3815C= (p.Pro1272=) c.3797C= (p.Pro1266=) n.309C= n.218C= c.3806C= (p.Pro1269=) c.3491C= (p.Pro1164=) c.1388C= (p.Pro463=) c.3830C= (p.Pro1277=) c.3821C= (p.Pro1274=) c.3812C= (p.Pro1271=) c.2150C= (p.Pro717=) | |
| X | g.108677506C>G | CA413850086 | COL4A5 | c.3815C>G (p.Pro1272Arg) c.3797C>G (p.Pro1266Arg) n.309C>G n.218C>G c.3806C>G (p.Pro1269Arg) c.3491C>G (p.Pro1164Arg) c.1388C>G (p.Pro463Arg) c.3830C>G (p.Pro1277Arg) c.3821C>G (p.Pro1274Arg) c.3812C>G (p.Pro1271Arg) c.2150C>G (p.Pro717Arg) | |
| X | g.108677506C>T | CA413850083 | COL4A5 | c.3815C>T (p.Pro1272Leu) c.3797C>T (p.Pro1266Leu) n.309C>T n.218C>T c.3806C>T (p.Pro1269Leu) c.3491C>T (p.Pro1164Leu) c.1388C>T (p.Pro463Leu) c.3830C>T (p.Pro1277Leu) c.3821C>T (p.Pro1274Leu) c.3812C>T (p.Pro1271Leu) c.2150C>T (p.Pro717Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108677507A>C | CA517923278 | COL4A5 | c.3816A>C (p.Pro1272=) c.3798A>C (p.Pro1266=) n.310A>C n.219A>C c.3807A>C (p.Pro1269=) c.3492A>C (p.Pro1164=) c.1389A>C (p.Pro463=) c.3831A>C (p.Pro1277=) c.3822A>C (p.Pro1274=) c.3813A>C (p.Pro1271=) c.2151A>C (p.Pro717=) | |
| X | g.108677507A>G | CA517923279 | COL4A5 | c.3816A>G (p.Pro1272=) c.3798A>G (p.Pro1266=) n.310A>G n.219A>G c.3807A>G (p.Pro1269=) c.3492A>G (p.Pro1164=) c.1389A>G (p.Pro463=) c.3831A>G (p.Pro1277=) c.3822A>G (p.Pro1274=) c.3813A>G (p.Pro1271=) c.2151A>G (p.Pro717=) | |
| X | g.108677507A>T | CA517923280 | COL4A5 | c.3816A>T (p.Pro1272=) c.3798A>T (p.Pro1266=) n.310A>T n.219A>T c.3807A>T (p.Pro1269=) c.3492A>T (p.Pro1164=) c.1389A>T (p.Pro463=) c.3831A>T (p.Pro1277=) c.3822A>T (p.Pro1274=) c.3813A>T (p.Pro1271=) c.2151A>T (p.Pro717=) | |
| X | g.108677508G>A | CA413850092 | COL4A5 | c.3817G>A (p.Gly1273Ser) c.3799G>A (p.Gly1267Ser) n.311G>A n.220G>A c.3808G>A (p.Gly1270Ser) c.3493G>A (p.Gly1165Ser) c.1390G>A (p.Gly464Ser) c.3832G>A (p.Gly1278Ser) c.3823G>A (p.Gly1275Ser) c.3814G>A (p.Gly1272Ser) c.2152G>A (p.Gly718Ser) | ClinVar dbSNP |
| X | g.108677508G>C | CA413850094 | COL4A5 | c.3817G>C (p.Gly1273Arg) c.3799G>C (p.Gly1267Arg) n.311G>C n.220G>C c.3808G>C (p.Gly1270Arg) c.3493G>C (p.Gly1165Arg) c.1390G>C (p.Gly464Arg) c.3832G>C (p.Gly1278Arg) c.3823G>C (p.Gly1275Arg) c.3814G>C (p.Gly1272Arg) c.2152G>C (p.Gly718Arg) | |
| X | g.108677508G>T | CA413850096 | COL4A5 | c.3817G>T (p.Gly1273Cys) c.3799G>T (p.Gly1267Cys) n.311G>T n.220G>T c.3808G>T (p.Gly1270Cys) c.3493G>T (p.Gly1165Cys) c.1390G>T (p.Gly464Cys) c.3832G>T (p.Gly1278Cys) c.3823G>T (p.Gly1275Cys) c.3814G>T (p.Gly1272Cys) c.2152G>T (p.Gly718Cys) | |
| X | g.108677509G>A | CA413850099 | COL4A5 | c.3818G>A (p.Gly1273Asp) c.3800G>A (p.Gly1267Asp) n.312G>A n.221G>A c.3809G>A (p.Gly1270Asp) c.3494G>A (p.Gly1165Asp) c.1391G>A (p.Gly464Asp) c.3833G>A (p.Gly1278Asp) c.3824G>A (p.Gly1275Asp) c.3815G>A (p.Gly1272Asp) c.2153G>A (p.Gly718Asp) | |
| X | g.108677509G>C | CA413850101 | COL4A5 | c.3818G>C (p.Gly1273Ala) c.3800G>C (p.Gly1267Ala) n.312G>C n.221G>C c.3809G>C (p.Gly1270Ala) c.3494G>C (p.Gly1165Ala) c.1391G>C (p.Gly464Ala) c.3833G>C (p.Gly1278Ala) c.3824G>C (p.Gly1275Ala) c.3815G>C (p.Gly1272Ala) c.2153G>C (p.Gly718Ala) | |
| X | g.108677509G>T | CA413850105 | COL4A5 | c.3818G>T (p.Gly1273Val) c.3800G>T (p.Gly1267Val) n.312G>T n.221G>T c.3809G>T (p.Gly1270Val) c.3494G>T (p.Gly1165Val) c.1391G>T (p.Gly464Val) c.3833G>T (p.Gly1278Val) c.3824G>T (p.Gly1275Val) c.3815G>T (p.Gly1272Val) c.2153G>T (p.Gly718Val) | |
| X | g.108677510T>A | CA517923281 | COL4A5 | c.3819T>A (p.Gly1273=) c.3801T>A (p.Gly1267=) n.313T>A n.222T>A c.3810T>A (p.Gly1270=) c.3495T>A (p.Gly1165=) c.1392T>A (p.Gly464=) c.3834T>A (p.Gly1278=) c.3825T>A (p.Gly1275=) c.3816T>A (p.Gly1272=) c.2154T>A (p.Gly718=) | ClinVar dbSNP gnomAD v4 |
| X | g.108677510T>C | CA10489228 | COL4A5 | c.3819T>C (p.Gly1273=) c.3801T>C (p.Gly1267=) n.313T>C n.222T>C c.3810T>C (p.Gly1270=) c.3495T>C (p.Gly1165=) c.1392T>C (p.Gly464=) c.3834T>C (p.Gly1278=) c.3825T>C (p.Gly1275=) c.3816T>C (p.Gly1272=) c.2154T>C (p.Gly718=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108677510T>G | CA517923282 | COL4A5 | c.3819T>G (p.Gly1273=) c.3801T>G (p.Gly1267=) n.313T>G n.222T>G c.3810T>G (p.Gly1270=) c.3495T>G (p.Gly1165=) c.1392T>G (p.Gly464=) c.3834T>G (p.Gly1278=) c.3825T>G (p.Gly1275=) c.3816T>G (p.Gly1272=) c.2154T>G (p.Gly718=) | |
| X | g.108677510T= | CA2450715757 | COL4A5 | c.3819T= (p.Gly1273=) c.3801T= (p.Gly1267=) n.313T= n.222T= c.3810T= (p.Gly1270=) c.3495T= (p.Gly1165=) c.1392T= (p.Gly464=) c.3834T= (p.Gly1278=) c.3825T= (p.Gly1275=) c.3816T= (p.Gly1272=) c.2154T= (p.Gly718=) | |
| X | g.108677511C>A | CA413850109 | COL4A5 | c.3820C>A (p.Pro1274Thr) c.3802C>A (p.Pro1268Thr) n.314C>A n.223C>A c.3811C>A (p.Pro1271Thr) c.3496C>A (p.Pro1166Thr) c.1393C>A (p.Pro465Thr) c.3835C>A (p.Pro1279Thr) c.3826C>A (p.Pro1276Thr) c.3817C>A (p.Pro1273Thr) c.2155C>A (p.Pro719Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108677511C= | CA2450715758 | COL4A5 | c.3820C= (p.Pro1274=) c.3802C= (p.Pro1268=) n.314C= n.223C= c.3811C= (p.Pro1271=) c.3496C= (p.Pro1166=) c.1393C= (p.Pro465=) c.3835C= (p.Pro1279=) c.3826C= (p.Pro1276=) c.3817C= (p.Pro1273=) c.2155C= (p.Pro719=) | |
| X | g.108677511C>G | CA413850111 | COL4A5 | c.3820C>G (p.Pro1274Ala) c.3802C>G (p.Pro1268Ala) n.314C>G n.223C>G c.3811C>G (p.Pro1271Ala) c.3496C>G (p.Pro1166Ala) c.1393C>G (p.Pro465Ala) c.3835C>G (p.Pro1279Ala) c.3826C>G (p.Pro1276Ala) c.3817C>G (p.Pro1273Ala) c.2155C>G (p.Pro719Ala) | COSMIC |
| X | g.108677511C>T | CA413850115 | COL4A5 | c.3820C>T (p.Pro1274Ser) c.3802C>T (p.Pro1268Ser) n.314C>T n.223C>T c.3811C>T (p.Pro1271Ser) c.3496C>T (p.Pro1166Ser) c.1393C>T (p.Pro465Ser) c.3835C>T (p.Pro1279Ser) c.3826C>T (p.Pro1276Ser) c.3817C>T (p.Pro1273Ser) c.2155C>T (p.Pro719Ser) | |
| X | g.108677512C>A | CA413850117 | COL4A5 | c.3821C>A (p.Pro1274Gln) c.3803C>A (p.Pro1268Gln) n.315C>A n.224C>A c.3812C>A (p.Pro1271Gln) c.3497C>A (p.Pro1166Gln) c.1394C>A (p.Pro465Gln) c.3836C>A (p.Pro1279Gln) c.3827C>A (p.Pro1276Gln) c.3818C>A (p.Pro1273Gln) c.2156C>A (p.Pro719Gln) | |
| X | g.108677512C>G | CA413850120 | COL4A5 | c.3821C>G (p.Pro1274Arg) c.3803C>G (p.Pro1268Arg) n.315C>G n.224C>G c.3812C>G (p.Pro1271Arg) c.3497C>G (p.Pro1166Arg) c.1394C>G (p.Pro465Arg) c.3836C>G (p.Pro1279Arg) c.3827C>G (p.Pro1276Arg) c.3818C>G (p.Pro1273Arg) c.2156C>G (p.Pro719Arg) | |
| X | g.108677512C>T | CA413850124 | COL4A5 | c.3821C>T (p.Pro1274Leu) c.3803C>T (p.Pro1268Leu) n.315C>T n.224C>T c.3812C>T (p.Pro1271Leu) c.3497C>T (p.Pro1166Leu) c.1394C>T (p.Pro465Leu) c.3836C>T (p.Pro1279Leu) c.3827C>T (p.Pro1276Leu) c.3818C>T (p.Pro1273Leu) c.2156C>T (p.Pro719Leu) | |
| X | g.108677513A>C | CA517923283 | COL4A5 | c.3822A>C (p.Pro1274=) c.3804A>C (p.Pro1268=) n.316A>C n.225A>C c.3813A>C (p.Pro1271=) c.3498A>C (p.Pro1166=) c.1395A>C (p.Pro465=) c.3837A>C (p.Pro1279=) c.3828A>C (p.Pro1276=) c.3819A>C (p.Pro1273=) c.2157A>C (p.Pro719=) | |
| X | g.108677513A>G | CA517923284 | COL4A5 | c.3822A>G (p.Pro1274=) c.3804A>G (p.Pro1268=) n.316A>G n.225A>G c.3813A>G (p.Pro1271=) c.3498A>G (p.Pro1166=) c.1395A>G (p.Pro465=) c.3837A>G (p.Pro1279=) c.3828A>G (p.Pro1276=) c.3819A>G (p.Pro1273=) c.2157A>G (p.Pro719=) | |
| X | g.108677513A>T | CA517923285 | COL4A5 | c.3822A>T (p.Pro1274=) c.3804A>T (p.Pro1268=) n.316A>T n.225A>T c.3813A>T (p.Pro1271=) c.3498A>T (p.Pro1166=) c.1395A>T (p.Pro465=) c.3837A>T (p.Pro1279=) c.3828A>T (p.Pro1276=) c.3819A>T (p.Pro1273=) c.2157A>T (p.Pro719=) | |
| X | g.108677519_108677562del | CA2697544724 | COL4A5 | c.3828_3871del (p.Pro1277LysfsTer25) c.3810_3853del (p.Pro1271LysfsTer25) n.322_365del n.231_274del c.3819_3862del (p.Pro1274LysfsTer25) c.3504_3547del (p.Pro1169LysfsTer25) c.1401_1444del (p.Pro468LysfsTer25) c.3843_3886del (p.Pro1282LysfsTer25) c.3834_3877del (p.Pro1279LysfsTer25) c.3825_3868del (p.Pro1276LysfsTer25) c.3843_3886del (p.Pro1282LysfsTer26) c.2163_2206del (p.Pro722LysfsTer25) | ClinVar |
| X | g.108677514G>A | CA413850132 | COL4A5 | c.3823G>A (p.Glu1275Lys) c.3805G>A (p.Glu1269Lys) n.317G>A n.226G>A c.3814G>A (p.Glu1272Lys) c.3499G>A (p.Glu1167Lys) c.1396G>A (p.Glu466Lys) c.3838G>A (p.Glu1280Lys) c.3829G>A (p.Glu1277Lys) c.3820G>A (p.Glu1274Lys) c.2158G>A (p.Glu720Lys) | |
| X | g.108677514G>C | CA413850135 | COL4A5 | c.3823G>C (p.Glu1275Gln) c.3805G>C (p.Glu1269Gln) n.317G>C n.226G>C c.3814G>C (p.Glu1272Gln) c.3499G>C (p.Glu1167Gln) c.1396G>C (p.Glu466Gln) c.3838G>C (p.Glu1280Gln) c.3829G>C (p.Glu1277Gln) c.3820G>C (p.Glu1274Gln) c.2158G>C (p.Glu720Gln) | |
| X | g.108677514G>T | CA413850130 | COL4A5 | c.3823G>T (p.Glu1275Ter) c.3805G>T (p.Glu1269Ter) n.317G>T n.226G>T c.3814G>T (p.Glu1272Ter) c.3499G>T (p.Glu1167Ter) c.1396G>T (p.Glu466Ter) c.3838G>T (p.Glu1280Ter) c.3829G>T (p.Glu1277Ter) c.3820G>T (p.Glu1274Ter) c.2158G>T (p.Glu720Ter) | COSMIC COSMIC |