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.108597528_108598968del | CA258538 | COL4A5 | c.1739_1948+98del n.1195_1404+98del c.1415_1624+98del c.1754_1963+98del c.74_283+98del | |
| X | g.108598722T>A | CA517922297 | COL4A5 | c.1800T>A (p.Gly600=) n.1256T>A c.1476T>A (p.Gly492=) c.1815T>A (p.Gly605=) c.135T>A (p.Gly45=) | |
| X | g.108598722T>C | CA517922298 | COL4A5 | c.1800T>C (p.Gly600=) n.1256T>C c.1476T>C (p.Gly492=) c.1815T>C (p.Gly605=) c.135T>C (p.Gly45=) | gnomAD v4 |
| X | g.108598722T>G | CA517922299 | COL4A5 | c.1800T>G (p.Gly600=) n.1256T>G c.1476T>G (p.Gly492=) c.1815T>G (p.Gly605=) c.135T>G (p.Gly45=) | |
| X | g.108598723G>A | CA413845643 | COL4A5 | c.1801G>A (p.Glu601Lys) n.1257G>A c.1477G>A (p.Glu493Lys) c.1816G>A (p.Glu606Lys) c.136G>A (p.Glu46Lys) | gnomAD v4 |
| X | g.108598723G>C | CA413845644 | COL4A5 | c.1801G>C (p.Glu601Gln) n.1257G>C c.1477G>C (p.Glu493Gln) c.1816G>C (p.Glu606Gln) c.136G>C (p.Glu46Gln) | |
| X | g.108598723G>T | CA413845645 | COL4A5 | c.1801G>T (p.Glu601Ter) n.1257G>T c.1477G>T (p.Glu493Ter) c.1816G>T (p.Glu606Ter) c.136G>T (p.Glu46Ter) | |
| X | g.108598724A>C | CA413845646 | COL4A5 | c.1802A>C (p.Glu601Ala) n.1258A>C c.1478A>C (p.Glu493Ala) c.1817A>C (p.Glu606Ala) c.137A>C (p.Glu46Ala) | |
| X | g.108598724A>G | CA413845647 | COL4A5 | c.1802A>G (p.Glu601Gly) n.1258A>G c.1478A>G (p.Glu493Gly) c.1817A>G (p.Glu606Gly) c.137A>G (p.Glu46Gly) | |
| X | g.108598724A>T | CA413845648 | COL4A5 | c.1802A>T (p.Glu601Val) n.1258A>T c.1478A>T (p.Glu493Val) c.1817A>T (p.Glu606Val) c.137A>T (p.Glu46Val) | |
| X | g.108598725A>C | CA413845649 | COL4A5 | c.1803A>C (p.Glu601Asp) n.1259A>C c.1479A>C (p.Glu493Asp) c.1818A>C (p.Glu606Asp) c.138A>C (p.Glu46Asp) | |
| X | g.108598725A>G | CA517922300 | COL4A5 | c.1803A>G (p.Glu601=) n.1259A>G c.1479A>G (p.Glu493=) c.1818A>G (p.Glu606=) c.138A>G (p.Glu46=) | |
| X | g.108598725A>T | CA413845650 | COL4A5 | c.1803A>T (p.Glu601Asp) n.1259A>T c.1479A>T (p.Glu493Asp) c.1818A>T (p.Glu606Asp) c.138A>T (p.Glu46Asp) | |
| X | g.108598726A>C | CA517922301 | COL4A5 | c.1804A>C (p.Arg602=) n.1260A>C c.1480A>C (p.Arg494=) c.1819A>C (p.Arg607=) c.139A>C (p.Arg47=) | |
| X | g.108598726A>G | CA413845651 | COL4A5 | c.1804A>G (p.Arg602Gly) n.1260A>G c.1480A>G (p.Arg494Gly) c.1819A>G (p.Arg607Gly) c.139A>G (p.Arg47Gly) | |
| X | g.108598726A>T | CA413845652 | COL4A5 | c.1804A>T (p.Arg602Ter) n.1260A>T c.1480A>T (p.Arg494Ter) c.1819A>T (p.Arg607Ter) c.139A>T (p.Arg47Ter) | |
| X | g.108598727G>A | CA413845653 | COL4A5 | c.1805G>A (p.Arg602Lys) n.1261G>A c.1481G>A (p.Arg494Lys) c.1820G>A (p.Arg607Lys) c.140G>A (p.Arg47Lys) | COSMIC COSMIC |
| X | g.108598727G>C | CA413845654 | COL4A5 | c.1805G>C (p.Arg602Thr) n.1261G>C c.1481G>C (p.Arg494Thr) c.1820G>C (p.Arg607Thr) c.140G>C (p.Arg47Thr) | |
| X | g.108598727G>T | CA413845655 | COL4A5 | c.1805G>T (p.Arg602Ile) n.1261G>T c.1481G>T (p.Arg494Ile) c.1820G>T (p.Arg607Ile) c.140G>T (p.Arg47Ile) | COSMIC |
| X | g.108598728A>C | CA413845657 | COL4A5 | c.1806A>C (p.Arg602Ser) n.1262A>C c.1482A>C (p.Arg494Ser) c.1821A>C (p.Arg607Ser) c.141A>C (p.Arg47Ser) | |
| X | g.108598728A>G | CA517922302 | COL4A5 | c.1806A>G (p.Arg602=) n.1262A>G c.1482A>G (p.Arg494=) c.1821A>G (p.Arg607=) c.141A>G (p.Arg47=) | |
| X | g.108598728A>T | CA413845656 | COL4A5 | c.1806A>T (p.Arg602Ser) n.1262A>T c.1482A>T (p.Arg494Ser) c.1821A>T (p.Arg607Ser) c.141A>T (p.Arg47Ser) | COSMIC COSMIC |
| X | g.108598729G>A | CA413845658 | COL4A5 | c.1807G>A (p.Gly603Ser) n.1263G>A c.1483G>A (p.Gly495Ser) c.1822G>A (p.Gly608Ser) c.142G>A (p.Gly48Ser) | ClinVar dbSNP |
| X | g.108598729G>C | CA413845659 | COL4A5 | c.1807G>C (p.Gly603Arg) n.1263G>C c.1483G>C (p.Gly495Arg) c.1822G>C (p.Gly608Arg) c.142G>C (p.Gly48Arg) | gnomAD v4 |
| X | g.108598729G= | CA2450688810 | COL4A5 | c.1807G= (p.Gly603=) n.1263G= c.1483G= (p.Gly495=) c.1822G= (p.Gly608=) c.142G= (p.Gly48=) | |
| X | g.108598729G>T | CA413845660 | COL4A5 | c.1807G>T (p.Gly603Cys) n.1263G>T c.1483G>T (p.Gly495Cys) c.1822G>T (p.Gly608Cys) c.142G>T (p.Gly48Cys) | ClinVar |
| X | g.108598740_108598793del | CA2580100305 | COL4A5 | c.1818_1871del (p.Asn607_Gly624del) n.1274_1327del c.1494_1547del (p.Asn499_Gly516del) c.1833_1886del (p.Asn612_Gly629del) c.153_206del (p.Asn52_Gly69del) | ClinVar |
| X | g.108598730G>A | CA413845661 | COL4A5 | c.1808G>A (p.Gly603Asp) n.1264G>A c.1484G>A (p.Gly495Asp) c.1823G>A (p.Gly608Asp) c.143G>A (p.Gly48Asp) | ClinVar dbSNP |
| X | g.108598730G>C | CA413845662 | COL4A5 | c.1808G>C (p.Gly603Ala) n.1264G>C c.1484G>C (p.Gly495Ala) c.1823G>C (p.Gly608Ala) c.143G>C (p.Gly48Ala) | |
| X | g.108598730G= | CA2450688811 | COL4A5 | c.1808G= (p.Gly603=) n.1264G= c.1484G= (p.Gly495=) c.1823G= (p.Gly608=) c.143G= (p.Gly48=) | |
| X | g.108598730G>T | CA258549 | COL4A5 | c.1808G>T (p.Gly603Val) n.1264G>T c.1484G>T (p.Gly495Val) c.1823G>T (p.Gly608Val) c.143G>T (p.Gly48Val) | ClinVar dbSNP |
| X | g.108598731T>A | CA517922303 | COL4A5 | c.1809T>A (p.Gly603=) n.1265T>A c.1485T>A (p.Gly495=) c.1824T>A (p.Gly608=) c.144T>A (p.Gly48=) | |
| X | g.108598731T>C | CA517922304 | COL4A5 | c.1809T>C (p.Gly603=) n.1265T>C c.1485T>C (p.Gly495=) c.1824T>C (p.Gly608=) c.144T>C (p.Gly48=) | |
| X | g.108598731T>G | CA517922305 | COL4A5 | c.1809T>G (p.Gly603=) n.1265T>G c.1485T>G (p.Gly495=) c.1824T>G (p.Gly608=) c.144T>G (p.Gly48=) | |
| X | g.108598731_108598733delinsTCC | CA2450688812 | COL4A5 | c.1809_1811delinsTCC (p.Gly603=) n.1265_1267delinsTCC c.1485_1487delinsTCC (p.Gly495=) c.1824_1826delinsTCC (p.Gly608=) c.144_146delinsTCC (p.Gly48=) | |
| X | g.108598732C>A | CA10488798 | COL4A5 | c.1810C>A (p.Pro604Thr) n.1266C>A c.1486C>A (p.Pro496Thr) c.1825C>A (p.Pro609Thr) c.145C>A (p.Pro49Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598732C= | CA2450688813 | COL4A5 | c.1810C= (p.Pro604=) n.1266C= c.1486C= (p.Pro496=) c.1825C= (p.Pro609=) c.145C= (p.Pro49=) | |
| X | g.108598732C>G | CA413845663 | COL4A5 | c.1810C>G (p.Pro604Ala) n.1266C>G c.1486C>G (p.Pro496Ala) c.1825C>G (p.Pro609Ala) c.145C>G (p.Pro49Ala) | |
| X | g.108598732C>T | CA413845664 | COL4A5 | c.1810C>T (p.Pro604Ser) n.1266C>T c.1486C>T (p.Pro496Ser) c.1825C>T (p.Pro609Ser) c.145C>T (p.Pro49Ser) | gnomAD v4 |
| X | g.108598732_108598733delinsT | CA920430419 | COL4A5 | c.1810_1811delinsT (p.Pro604SerfsTer14) n.1266_1267delinsT c.1486_1487delinsT (p.Pro496SerfsTer14) c.1825_1826delinsT (p.Pro609SerfsTer14) c.145_146delinsT (p.Pro49SerfsTer14) | dbSNP |
| X | g.108598736dup | CA2499729925 | COL4A5 | c.1814dup (p.Gly606TrpfsTer28) n.1270dup c.1490dup (p.Gly498TrpfsTer28) c.1829dup (p.Gly611TrpfsTer28) c.149dup (p.Gly51TrpfsTer28) | |
| X | g.108598735_108598736dup | CA2695235629 | COL4A5 | c.1813_1814dup (p.Gly606LeufsTer13) n.1269_1270dup c.1489_1490dup (p.Gly498LeufsTer13) c.1828_1829dup (p.Gly611LeufsTer13) c.148_149dup (p.Gly51LeufsTer13) | |
| X | g.108598736del | CA2695235627 | COL4A5 | c.1814del (p.Pro605LeufsTer13) n.1270del c.1490del (p.Pro497LeufsTer13) c.1829del (p.Pro610LeufsTer13) c.149del (p.Pro50LeufsTer13) | |
| X | g.108598735_108598736del | CA2695235628 | COL4A5 | c.1813_1814del (p.Pro605TrpfsTer28) n.1269_1270del c.1489_1490del (p.Pro497TrpfsTer28) c.1828_1829del (p.Pro610TrpfsTer28) c.148_149del (p.Pro50TrpfsTer28) | |
| X | g.108598735_108598745del | CA2822895325 | COL4A5 | c.1813_1823del (p.Pro605ArgfsTer25) n.1269_1279del c.1489_1499del (p.Pro497ArgfsTer25) c.1828_1838del (p.Pro610ArgfsTer25) c.148_158del (p.Pro50ArgfsTer25) | |
| X | g.108598733C>A | CA413845665 | COL4A5 | c.1811C>A (p.Pro604His) n.1267C>A c.1487C>A (p.Pro496His) c.1826C>A (p.Pro609His) c.146C>A (p.Pro49His) | |
| X | g.108598733C>G | CA413845666 | COL4A5 | c.1811C>G (p.Pro604Arg) n.1267C>G c.1487C>G (p.Pro496Arg) c.1826C>G (p.Pro609Arg) c.146C>G (p.Pro49Arg) | |
| X | g.108598733C>T | CA413845667 | COL4A5 | c.1811C>T (p.Pro604Leu) n.1267C>T c.1487C>T (p.Pro496Leu) c.1826C>T (p.Pro609Leu) c.146C>T (p.Pro49Leu) | ClinVar gnomAD v4 COSMIC COSMIC |
| X | g.108598734C>A | CA517922308 | COL4A5 | c.1812C>A (p.Pro604=) n.1268C>A c.1488C>A (p.Pro496=) c.1827C>A (p.Pro609=) c.147C>A (p.Pro49=) | |
| X | g.108598734C>G | CA517922306 | COL4A5 | c.1812C>G (p.Pro604=) n.1268C>G c.1488C>G (p.Pro496=) c.1827C>G (p.Pro609=) c.147C>G (p.Pro49=) |