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.108598717A>C | CA413845629 | COL4A5 | c.1795A>C (p.Lys599Gln) n.1251A>C c.1471A>C (p.Lys491Gln) c.1810A>C (p.Lys604Gln) c.130A>C (p.Lys44Gln) | |
X | g.108598717A>G | CA413845630 | COL4A5 | c.1795A>G (p.Lys599Glu) n.1251A>G c.1471A>G (p.Lys491Glu) c.1810A>G (p.Lys604Glu) c.130A>G (p.Lys44Glu) | |
X | g.108598717A>T | CA413845631 | COL4A5 | c.1795A>T (p.Lys599Ter) n.1251A>T c.1471A>T (p.Lys491Ter) c.1810A>T (p.Lys604Ter) c.130A>T (p.Lys44Ter) | |
X | g.108598718A>C | CA413845632 | COL4A5 | c.1796A>C (p.Lys599Thr) n.1252A>C c.1472A>C (p.Lys491Thr) c.1811A>C (p.Lys604Thr) c.131A>C (p.Lys44Thr) | |
X | g.108598718A>G | CA413845633 | COL4A5 | c.1796A>G (p.Lys599Arg) n.1252A>G c.1472A>G (p.Lys491Arg) c.1811A>G (p.Lys604Arg) c.131A>G (p.Lys44Arg) | |
X | g.108598718A>T | CA413845634 | COL4A5 | c.1796A>T (p.Lys599Met) n.1252A>T c.1472A>T (p.Lys491Met) c.1811A>T (p.Lys604Met) c.131A>T (p.Lys44Met) | |
X | g.108598719G>A | CA517922296 | COL4A5 | c.1797G>A (p.Lys599=) n.1253G>A c.1473G>A (p.Lys491=) c.1812G>A (p.Lys604=) c.132G>A (p.Lys44=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598719G>C | CA413845635 | COL4A5 | c.1797G>C (p.Lys599Asn) n.1253G>C c.1473G>C (p.Lys491Asn) c.1812G>C (p.Lys604Asn) c.132G>C (p.Lys44Asn) | |
X | g.108598719G= | CA2450688807 | COL4A5 | c.1797G= (p.Lys599=) n.1253G= c.1473G= (p.Lys491=) c.1812G= (p.Lys604=) c.132G= (p.Lys44=) | |
X | g.108598719G>T | CA413845636 | COL4A5 | c.1797G>T (p.Lys599Asn) n.1253G>T c.1473G>T (p.Lys491Asn) c.1812G>T (p.Lys604Asn) c.132G>T (p.Lys44Asn) | dbSNP |
X | g.108598721del | CA2695235626 | COL4A5 | c.1799del (p.Gly600ValfsTer18) n.1255del c.1475del (p.Gly492ValfsTer18) c.1814del (p.Gly605ValfsTer18) c.134del (p.Gly45ValfsTer18) | |
X | g.108598720G>A | CA413845637 | COL4A5 | c.1798G>A (p.Gly600Ser) n.1254G>A c.1474G>A (p.Gly492Ser) c.1813G>A (p.Gly605Ser) c.133G>A (p.Gly45Ser) | dbSNP |
X | g.108598720G>C | CA413845638 | COL4A5 | c.1798G>C (p.Gly600Arg) n.1254G>C c.1474G>C (p.Gly492Arg) c.1813G>C (p.Gly605Arg) c.133G>C (p.Gly45Arg) | |
X | g.108598720G= | CA2450688808 | COL4A5 | c.1798G= (p.Gly600=) n.1254G= c.1474G= (p.Gly492=) c.1813G= (p.Gly605=) c.133G= (p.Gly45=) | |
X | g.108598720G>T | CA413845639 | COL4A5 | c.1798G>T (p.Gly600Cys) n.1254G>T c.1474G>T (p.Gly492Cys) c.1813G>T (p.Gly605Cys) c.133G>T (p.Gly45Cys) | |
X | g.108598721G>A | CA413845642 | COL4A5 | c.1799G>A (p.Gly600Asp) n.1255G>A c.1475G>A (p.Gly492Asp) c.1814G>A (p.Gly605Asp) c.134G>A (p.Gly45Asp) | |
X | g.108598721G>C | CA413845641 | COL4A5 | c.1799G>C (p.Gly600Ala) n.1255G>C c.1475G>C (p.Gly492Ala) c.1814G>C (p.Gly605Ala) c.134G>C (p.Gly45Ala) | |
X | g.108598721G= | CA2450688809 | COL4A5 | c.1799G= (p.Gly600=) n.1255G= c.1475G= (p.Gly492=) c.1814G= (p.Gly605=) c.134G= (p.Gly45=) | |
X | g.108598721G>T | CA413845640 | COL4A5 | c.1799G>T (p.Gly600Val) n.1255G>T c.1475G>T (p.Gly492Val) c.1814G>T (p.Gly605Val) c.134G>T (p.Gly45Val) | ClinVar dbSNP |
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=) | |
X | g.108598734C>T | CA517922307 | COL4A5 | c.1812C>T (p.Pro604=) n.1268C>T c.1488C>T (p.Pro496=) c.1827C>T (p.Pro609=) c.147C>T (p.Pro49=) | |
X | g.108598735C>A | CA10488799 | COL4A5 | c.1813C>A (p.Pro605Thr) n.1269C>A c.1489C>A (p.Pro497Thr) c.1828C>A (p.Pro610Thr) c.148C>A (p.Pro50Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108598735C= | CA2450688814 | COL4A5 | c.1813C= (p.Pro605=) n.1269C= c.1489C= (p.Pro497=) c.1828C= (p.Pro610=) c.148C= (p.Pro50=) | |
X | g.108598735C>G | CA413845669 | COL4A5 | c.1813C>G (p.Pro605Ala) n.1269C>G c.1489C>G (p.Pro497Ala) c.1828C>G (p.Pro610Ala) c.148C>G (p.Pro50Ala) | |
X | g.108598735C>T | CA413845668 | COL4A5 | c.1813C>T (p.Pro605Ser) n.1269C>T c.1489C>T (p.Pro497Ser) c.1828C>T (p.Pro610Ser) c.148C>T (p.Pro50Ser) | |
X | g.108598736C>A | CA413845670 | COL4A5 | c.1814C>A (p.Pro605His) n.1270C>A c.1490C>A (p.Pro497His) c.1829C>A (p.Pro610His) c.149C>A (p.Pro50His) | |
X | g.108598736C>G | CA413845672 | COL4A5 | c.1814C>G (p.Pro605Arg) n.1270C>G c.1490C>G (p.Pro497Arg) c.1829C>G (p.Pro610Arg) c.149C>G (p.Pro50Arg) | |
X | g.108598736C>T | CA413845671 | COL4A5 | c.1814C>T (p.Pro605Leu) n.1270C>T c.1490C>T (p.Pro497Leu) c.1829C>T (p.Pro610Leu) c.149C>T (p.Pro50Leu) | |
X | g.108598736_108598737delinsCT | CA2450688815 | COL4A5 | c.1814_1815delinsCT (p.Pro605=) n.1270_1271delinsCT c.1490_1491delinsCT (p.Pro497=) c.1829_1830delinsCT (p.Pro610=) c.149_150delinsCT (p.Pro50=) | |
X | g.108598737del | CA916083990 | COL4A5 | c.1815del (p.Asn607ThrfsTer11) n.1271del c.1491del (p.Asn499ThrfsTer11) c.1830del (p.Asn612ThrfsTer11) c.150del (p.Asn52ThrfsTer11) | ClinVar dbSNP |
X | g.108598737T>A | CA517922350 | COL4A5 | c.1815T>A (p.Pro605=) n.1271T>A c.1491T>A (p.Pro497=) c.1830T>A (p.Pro610=) c.150T>A (p.Pro50=) | |
X | g.108598737T>C | CA517922351 | COL4A5 | c.1815T>C (p.Pro605=) n.1271T>C c.1491T>C (p.Pro497=) c.1830T>C (p.Pro610=) c.150T>C (p.Pro50=) | ClinVar |
X | g.108598737T>G | CA517922352 | COL4A5 | c.1815T>G (p.Pro605=) n.1271T>G c.1491T>G (p.Pro497=) c.1830T>G (p.Pro610=) c.150T>G (p.Pro50=) | |
X | g.108598738G>A | CA413845673 | COL4A5 | c.1816G>A (p.Gly606Arg) n.1272G>A c.1492G>A (p.Gly498Arg) c.1831G>A (p.Gly611Arg) c.151G>A (p.Gly51Arg) | |
X | g.108598738G>C | CA413845675 | COL4A5 | c.1816G>C (p.Gly606Arg) n.1272G>C c.1492G>C (p.Gly498Arg) c.1831G>C (p.Gly611Arg) c.151G>C (p.Gly51Arg) | |
X | g.108598738G>T | CA413845674 | COL4A5 | c.1816G>T (p.Gly606Trp) n.1272G>T c.1492G>T (p.Gly498Trp) c.1831G>T (p.Gly611Trp) c.151G>T (p.Gly51Trp) | COSMIC |
X | g.108598739G>A | CA413845676 | COL4A5 | c.1817G>A (p.Gly606Glu) n.1273G>A c.1493G>A (p.Gly498Glu) c.1832G>A (p.Gly611Glu) c.152G>A (p.Gly51Glu) | ClinVar dbSNP |
X | g.108598739G>C | CA413845678 | COL4A5 | c.1817G>C (p.Gly606Ala) n.1273G>C c.1493G>C (p.Gly498Ala) c.1832G>C (p.Gly611Ala) c.152G>C (p.Gly51Ala) | |
X | g.108598739G>T | CA413845677 | COL4A5 | c.1817G>T (p.Gly606Val) n.1273G>T c.1493G>T (p.Gly498Val) c.1832G>T (p.Gly611Val) c.152G>T (p.Gly51Val) | ClinVar |
X | g.108598740G>A | CA517922357 | COL4A5 | c.1818G>A (p.Gly606=) n.1274G>A c.1494G>A (p.Gly498=) c.1833G>A (p.Gly611=) c.153G>A (p.Gly51=) | ClinVar dbSNP COSMIC COSMIC |
X | g.108598740G>C | CA517922355 | COL4A5 | c.1818G>C (p.Gly606=) n.1274G>C c.1494G>C (p.Gly498=) c.1833G>C (p.Gly611=) c.153G>C (p.Gly51=) | |
X | g.108598740G= | CA2450688816 | COL4A5 | c.1818G= (p.Gly606=) n.1274G= c.1494G= (p.Gly498=) c.1833G= (p.Gly611=) c.153G= (p.Gly51=) | |
X | g.108598740G>T | CA517922356 | COL4A5 | c.1818G>T (p.Gly606=) n.1274G>T c.1494G>T (p.Gly498=) c.1833G>T (p.Gly611=) c.153G>T (p.Gly51=) | ClinVar gnomAD v4 |
X | g.108598741A>C | CA413845679 | COL4A5 | c.1819A>C (p.Asn607His) n.1275A>C c.1495A>C (p.Asn499His) c.1834A>C (p.Asn612His) c.154A>C (p.Asn52His) | |
X | g.108598741A>G | CA413845680 | COL4A5 | c.1819A>G (p.Asn607Asp) n.1275A>G c.1495A>G (p.Asn499Asp) c.1834A>G (p.Asn612Asp) c.154A>G (p.Asn52Asp) | gnomAD v3 gnomAD v4 |
X | g.108598741A>T | CA413845681 | COL4A5 | c.1819A>T (p.Asn607Tyr) n.1275A>T c.1495A>T (p.Asn499Tyr) c.1834A>T (p.Asn612Tyr) c.154A>T (p.Asn52Tyr) | |
X | g.108598742A>C | CA413845682 | COL4A5 | c.1820A>C (p.Asn607Thr) n.1276A>C c.1496A>C (p.Asn499Thr) c.1835A>C (p.Asn612Thr) c.155A>C (p.Asn52Thr) | |
X | g.108598742A>G | CA413845683 | COL4A5 | c.1820A>G (p.Asn607Ser) n.1276A>G c.1496A>G (p.Asn499Ser) c.1835A>G (p.Asn612Ser) c.155A>G (p.Asn52Ser) | gnomAD v4 |
X | g.108598742A>T | CA413845684 | COL4A5 | c.1820A>T (p.Asn607Ile) n.1276A>T c.1496A>T (p.Asn499Ile) c.1835A>T (p.Asn612Ile) c.155A>T (p.Asn52Ile) | |
X | g.108598743C>A | CA413845685 | COL4A5 | c.1821C>A (p.Asn607Lys) n.1277C>A c.1497C>A (p.Asn499Lys) c.1836C>A (p.Asn612Lys) c.156C>A (p.Asn52Lys) | |
X | g.108598743C>G | CA413845686 | COL4A5 | c.1821C>G (p.Asn607Lys) n.1277C>G c.1497C>G (p.Asn499Lys) c.1836C>G (p.Asn612Lys) c.156C>G (p.Asn52Lys) | |
X | g.108598743C>T | CA517922361 | COL4A5 | c.1821C>T (p.Asn607=) n.1277C>T c.1497C>T (p.Asn499=) c.1836C>T (p.Asn612=) c.156C>T (p.Asn52=) | |
X | g.108598743_108598751del | CA2522882905 | COL4A5 | c.1821_1829del (p.Asn607_Leu610delinsLys) n.1277_1285del c.1497_1505del (p.Asn499_Leu502delinsLys) c.1836_1844del (p.Asn612_Leu615delinsLys) c.156_164del (p.Asn52_Leu55delinsLys) | |
X | g.108598744C>A | CA413845687 | COL4A5 | c.1822C>A (p.Pro608Thr) n.1278C>A c.1498C>A (p.Pro500Thr) c.1837C>A (p.Pro613Thr) c.157C>A (p.Pro53Thr) | |
X | g.108598744C>G | CA413845688 | COL4A5 | c.1822C>G (p.Pro608Ala) n.1278C>G c.1498C>G (p.Pro500Ala) c.1837C>G (p.Pro613Ala) c.157C>G (p.Pro53Ala) | |
X | g.108598744C>T | CA413845689 | COL4A5 | c.1822C>T (p.Pro608Ser) n.1278C>T c.1498C>T (p.Pro500Ser) c.1837C>T (p.Pro613Ser) c.157C>T (p.Pro53Ser) | |
X | g.108598745C>A | CA10488800 | COL4A5 | c.1823C>A (p.Pro608Gln) n.1279C>A c.1499C>A (p.Pro500Gln) c.1838C>A (p.Pro613Gln) c.158C>A (p.Pro53Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108598745C= | CA2450688817 | COL4A5 | c.1823C= (p.Pro608=) n.1279C= c.1499C= (p.Pro500=) c.1838C= (p.Pro613=) c.158C= (p.Pro53=) | |
X | g.108598745C>G | CA413845690 | COL4A5 | c.1823C>G (p.Pro608Arg) n.1279C>G c.1499C>G (p.Pro500Arg) c.1838C>G (p.Pro613Arg) c.158C>G (p.Pro53Arg) | |
X | g.108598745C>T | CA413845691 | COL4A5 | c.1823C>T (p.Pro608Leu) n.1279C>T c.1499C>T (p.Pro500Leu) c.1838C>T (p.Pro613Leu) c.158C>T (p.Pro53Leu) | |
X | g.108598746A>C | CA517922364 | COL4A5 | c.1824A>C (p.Pro608=) n.1280A>C c.1500A>C (p.Pro500=) c.1839A>C (p.Pro613=) c.159A>C (p.Pro53=) | ClinVar gnomAD v4 |
X | g.108598746A>G | CA517922365 | COL4A5 | c.1824A>G (p.Pro608=) n.1280A>G c.1500A>G (p.Pro500=) c.1839A>G (p.Pro613=) c.159A>G (p.Pro53=) | |
X | g.108598746A>T | CA517922366 | COL4A5 | c.1824A>T (p.Pro608=) n.1280A>T c.1500A>T (p.Pro500=) c.1839A>T (p.Pro613=) c.159A>T (p.Pro53=) | |
X | g.108598747G>A | CA413845692 | COL4A5 | c.1825G>A (p.Gly609Ser) n.1281G>A c.1501G>A (p.Gly501Ser) c.1840G>A (p.Gly614Ser) c.160G>A (p.Gly54Ser) | COSMIC COSMIC |
X | g.108598747G>C | CA258551 | COL4A5 | c.1825G>C (p.Gly609Arg) n.1281G>C c.1501G>C (p.Gly501Arg) c.1840G>C (p.Gly614Arg) c.160G>C (p.Gly54Arg) | dbSNP |
X | g.108598747G= | CA2450688818 | COL4A5 | c.1825G= (p.Gly609=) n.1281G= c.1501G= (p.Gly501=) c.1840G= (p.Gly614=) c.160G= (p.Gly54=) | |
X | g.108598747G>T | CA413845693 | COL4A5 | c.1825G>T (p.Gly609Cys) n.1281G>T c.1501G>T (p.Gly501Cys) c.1840G>T (p.Gly614Cys) c.160G>T (p.Gly54Cys) | ClinVar |
X | g.108598748G>A | CA413845694 | COL4A5 | c.1826G>A (p.Gly609Asp) n.1282G>A c.1502G>A (p.Gly501Asp) c.1841G>A (p.Gly614Asp) c.161G>A (p.Gly54Asp) | |
X | g.108598748G>C | CA413845695 | COL4A5 | c.1826G>C (p.Gly609Ala) n.1282G>C c.1502G>C (p.Gly501Ala) c.1841G>C (p.Gly614Ala) c.161G>C (p.Gly54Ala) | ClinVar dbSNP |
X | g.108598748G= | CA2450688819 | COL4A5 | c.1826G= (p.Gly609=) n.1282G= c.1502G= (p.Gly501=) c.1841G= (p.Gly614=) c.161G= (p.Gly54=) | |
X | g.108598748G>T | CA258553 | COL4A5 | c.1826G>T (p.Gly609Val) n.1282G>T c.1502G>T (p.Gly501Val) c.1841G>T (p.Gly614Val) c.161G>T (p.Gly54Val) | dbSNP |
X | g.108598749T>A | CA10488801 | COL4A5 | c.1827T>A (p.Gly609=) n.1283T>A c.1503T>A (p.Gly501=) c.1842T>A (p.Gly614=) c.162T>A (p.Gly54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598749T>C | CA517922369 | COL4A5 | c.1827T>C (p.Gly609=) n.1283T>C c.1503T>C (p.Gly501=) c.1842T>C (p.Gly614=) c.162T>C (p.Gly54=) | |
X | g.108598749T>G | CA517922370 | COL4A5 | c.1827T>G (p.Gly609=) n.1283T>G c.1503T>G (p.Gly501=) c.1842T>G (p.Gly614=) c.162T>G (p.Gly54=) | |
X | g.108598749T= | CA2450688820 | COL4A5 | c.1827T= (p.Gly609=) n.1283T= c.1503T= (p.Gly501=) c.1842T= (p.Gly614=) c.162T= (p.Gly54=) | |
X | g.108598750T>A | CA413845696 | COL4A5 | c.1828T>A (p.Leu610Ile) n.1284T>A c.1504T>A (p.Leu502Ile) c.1843T>A (p.Leu615Ile) c.163T>A (p.Leu55Ile) | |
X | g.108598750T>C | CA517922371 | COL4A5 | c.1828T>C (p.Leu610=) n.1284T>C c.1504T>C (p.Leu502=) c.1843T>C (p.Leu615=) c.163T>C (p.Leu55=) | ClinVar dbSNP |
X | g.108598750T>G | CA413845697 | COL4A5 | c.1828T>G (p.Leu610Val) n.1284T>G c.1504T>G (p.Leu502Val) c.1843T>G (p.Leu615Val) c.163T>G (p.Leu55Val) | |
X | g.108598751T>A | CA413845700 | COL4A5 | c.1829T>A (p.Leu610Ter) n.1285T>A c.1505T>A (p.Leu502Ter) c.1844T>A (p.Leu615Ter) c.164T>A (p.Leu55Ter) | dbSNP |
X | g.108598751T>C | CA413845699 | COL4A5 | c.1829T>C (p.Leu610Ser) n.1285T>C c.1505T>C (p.Leu502Ser) c.1844T>C (p.Leu615Ser) c.164T>C (p.Leu55Ser) | |
X | g.108598751T>G | CA413845698 | COL4A5 | c.1829T>G (p.Leu610Ter) n.1285T>G c.1505T>G (p.Leu502Ter) c.1844T>G (p.Leu615Ter) c.164T>G (p.Leu55Ter) | |
X | g.108598751T= | CA2450688821 | COL4A5 | c.1829T= (p.Leu610=) n.1285T= c.1505T= (p.Leu502=) c.1844T= (p.Leu615=) c.164T= (p.Leu55=) | |
X | g.108598752A= | CA2450688822 | COL4A5 | c.1830A= (p.Leu610=) n.1286A= c.1506A= (p.Leu502=) c.1845A= (p.Leu615=) c.165A= (p.Leu55=) | |
X | g.108598752A>C | CA413845701 | COL4A5 | c.1830A>C (p.Leu610Phe) n.1286A>C c.1506A>C (p.Leu502Phe) c.1845A>C (p.Leu615Phe) c.165A>C (p.Leu55Phe) | |
X | g.108598752A>G | CA517922375 | COL4A5 | c.1830A>G (p.Leu610=) n.1286A>G c.1506A>G (p.Leu502=) c.1845A>G (p.Leu615=) c.165A>G (p.Leu55=) | |
X | g.108598752A>T | CA413845702 | COL4A5 | c.1830A>T (p.Leu610Phe) n.1286A>T c.1506A>T (p.Leu502Phe) c.1845A>T (p.Leu615Phe) c.165A>T (p.Leu55Phe) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108598753C>A | CA413845703 | COL4A5 | c.1831C>A (p.Pro611Thr) n.1287C>A c.1507C>A (p.Pro503Thr) c.1846C>A (p.Pro616Thr) c.166C>A (p.Pro56Thr) | |
X | g.108598753C>G | CA413845704 | COL4A5 | c.1831C>G (p.Pro611Ala) n.1287C>G c.1507C>G (p.Pro503Ala) c.1846C>G (p.Pro616Ala) c.166C>G (p.Pro56Ala) | |
X | g.108598753C>T | CA413845705 | COL4A5 | c.1831C>T (p.Pro611Ser) n.1287C>T c.1507C>T (p.Pro503Ser) c.1846C>T (p.Pro616Ser) c.166C>T (p.Pro56Ser) | |
X | g.108598754del | CA2825002920 | COL4A5 | c.1832del (p.Pro611GlnfsTer7) n.1288del c.1508del (p.Pro503GlnfsTer7) c.1847del (p.Pro616GlnfsTer7) c.167del (p.Pro56GlnfsTer7) | ClinVar |
X | g.108598754C>A | CA413845706 | COL4A5 | c.1832C>A (p.Pro611Gln) n.1288C>A c.1508C>A (p.Pro503Gln) c.1847C>A (p.Pro616Gln) c.167C>A (p.Pro56Gln) | |
X | g.108598754C= | CA2450688823 | COL4A5 | c.1832C= (p.Pro611=) n.1288C= c.1508C= (p.Pro503=) c.1847C= (p.Pro616=) c.167C= (p.Pro56=) | |
X | g.108598754C>G | CA413845707 | COL4A5 | c.1832C>G (p.Pro611Arg) n.1288C>G c.1508C>G (p.Pro503Arg) c.1847C>G (p.Pro616Arg) c.167C>G (p.Pro56Arg) | |
X | g.108598754C>T | CA413845708 | COL4A5 | c.1832C>T (p.Pro611Leu) n.1288C>T c.1508C>T (p.Pro503Leu) c.1847C>T (p.Pro616Leu) c.167C>T (p.Pro56Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108598755A= | CA2450688824 | COL4A5 | c.1833A= (p.Pro611=) n.1289A= c.1509A= (p.Pro503=) c.1848A= (p.Pro616=) c.168A= (p.Pro56=) | |
X | g.108598755A>C | CA517922376 | COL4A5 | c.1833A>C (p.Pro611=) n.1289A>C c.1509A>C (p.Pro503=) c.1848A>C (p.Pro616=) c.168A>C (p.Pro56=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598755A>G | CA517922377 | COL4A5 | c.1833A>G (p.Pro611=) n.1289A>G c.1509A>G (p.Pro503=) c.1848A>G (p.Pro616=) c.168A>G (p.Pro56=) | ClinVar |
X | g.108598755A>T | CA517922378 | COL4A5 | c.1833A>T (p.Pro611=) n.1289A>T c.1509A>T (p.Pro503=) c.1848A>T (p.Pro616=) c.168A>T (p.Pro56=) | |
X | g.108598755dup | CA2694412577 | COL4A5 | c.1833dup (p.Gly612ArgfsTer22) n.1289dup c.1509dup (p.Gly504ArgfsTer22) c.1848dup (p.Gly617ArgfsTer22) c.168dup (p.Gly57ArgfsTer22) | gnomAD v4 |
X | g.108598756G>A | CA413845709 | COL4A5 | c.1834G>A (p.Gly612Ser) n.1290G>A c.1510G>A (p.Gly504Ser) c.1849G>A (p.Gly617Ser) c.169G>A (p.Gly57Ser) | |
X | g.108598756G>C | CA413845710 | COL4A5 | c.1834G>C (p.Gly612Arg) n.1290G>C c.1510G>C (p.Gly504Arg) c.1849G>C (p.Gly617Arg) c.169G>C (p.Gly57Arg) | ClinVar |
X | g.108598756G>T | CA413845711 | COL4A5 | c.1834G>T (p.Gly612Cys) n.1290G>T c.1510G>T (p.Gly504Cys) c.1849G>T (p.Gly617Cys) c.169G>T (p.Gly57Cys) | COSMIC COSMIC |
X | g.108598757G>A | CA261063 | COL4A5 | c.1835G>A (p.Gly612Asp) n.1291G>A c.1511G>A (p.Gly504Asp) c.1850G>A (p.Gly617Asp) c.170G>A (p.Gly57Asp) | ClinVar dbSNP |
X | g.108598757G>C | CA413845713 | COL4A5 | c.1835G>C (p.Gly612Ala) n.1291G>C c.1511G>C (p.Gly504Ala) c.1850G>C (p.Gly617Ala) c.170G>C (p.Gly57Ala) | |
X | g.108598757G= | CA2450688825 | COL4A5 | c.1835G= (p.Gly612=) n.1291G= c.1511G= (p.Gly504=) c.1850G= (p.Gly617=) c.170G= (p.Gly57=) | |
X | g.108598757G>T | CA413845712 | COL4A5 | c.1835G>T (p.Gly612Val) n.1291G>T c.1511G>T (p.Gly504Val) c.1850G>T (p.Gly617Val) c.170G>T (p.Gly57Val) | |
X | g.108598758C>A | CA517922380 | COL4A5 | c.1836C>A (p.Gly612=) n.1292C>A c.1512C>A (p.Gly504=) c.1851C>A (p.Gly617=) c.171C>A (p.Gly57=) | |
X | g.108598758C= | CA2450688826 | COL4A5 | c.1836C= (p.Gly612=) n.1292C= c.1512C= (p.Gly504=) c.1851C= (p.Gly617=) c.171C= (p.Gly57=) | |
X | g.108598758C>G | CA517922381 | COL4A5 | c.1836C>G (p.Gly612=) n.1292C>G c.1512C>G (p.Gly504=) c.1851C>G (p.Gly617=) c.171C>G (p.Gly57=) | |
X | g.108598758C>T | CA517922382 | COL4A5 | c.1836C>T (p.Gly612=) n.1292C>T c.1512C>T (p.Gly504=) c.1851C>T (p.Gly617=) c.171C>T (p.Gly57=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108598759C>A | CA413845714 | COL4A5 | c.1837C>A (p.Leu613Ile) n.1293C>A c.1513C>A (p.Leu505Ile) c.1852C>A (p.Leu618Ile) c.172C>A (p.Leu58Ile) | gnomAD v4 |
X | g.108598759C>G | CA413845715 | COL4A5 | c.1837C>G (p.Leu613Val) n.1293C>G c.1513C>G (p.Leu505Val) c.1852C>G (p.Leu618Val) c.172C>G (p.Leu58Val) | |
X | g.108598759C>T | CA413845716 | COL4A5 | c.1837C>T (p.Leu613Phe) n.1293C>T c.1513C>T (p.Leu505Phe) c.1852C>T (p.Leu618Phe) c.172C>T (p.Leu58Phe) | |
X | g.108598760T>A | CA413845717 | COL4A5 | c.1838T>A (p.Leu613His) n.1294T>A c.1514T>A (p.Leu505His) c.1853T>A (p.Leu618His) c.173T>A (p.Leu58His) | |
X | g.108598760T>C | CA413845718 | COL4A5 | c.1838T>C (p.Leu613Pro) n.1294T>C c.1514T>C (p.Leu505Pro) c.1853T>C (p.Leu618Pro) c.173T>C (p.Leu58Pro) | gnomAD v4 |
X | g.108598760T>G | CA413845719 | COL4A5 | c.1838T>G (p.Leu613Arg) n.1294T>G c.1514T>G (p.Leu505Arg) c.1853T>G (p.Leu618Arg) c.173T>G (p.Leu58Arg) | |
X | g.108598761C>A | CA517922385 | COL4A5 | c.1839C>A (p.Leu613=) n.1295C>A c.1515C>A (p.Leu505=) c.1854C>A (p.Leu618=) c.174C>A (p.Leu58=) | |
X | g.108598761C>G | CA517922389 | COL4A5 | c.1839C>G (p.Leu613=) n.1295C>G c.1515C>G (p.Leu505=) c.1854C>G (p.Leu618=) c.174C>G (p.Leu58=) | |
X | g.108598761C>T | CA517922387 | COL4A5 | c.1839C>T (p.Leu613=) n.1295C>T c.1515C>T (p.Leu505=) c.1854C>T (p.Leu618=) c.174C>T (p.Leu58=) | ClinVar dbSNP |
X | g.108598762C>A | CA413845720 | COL4A5 | c.1840C>A (p.Pro614Thr) n.1296C>A c.1516C>A (p.Pro506Thr) c.1855C>A (p.Pro619Thr) c.175C>A (p.Pro59Thr) | |
X | g.108598762C>G | CA413845721 | COL4A5 | c.1840C>G (p.Pro614Ala) n.1296C>G c.1516C>G (p.Pro506Ala) c.1855C>G (p.Pro619Ala) c.175C>G (p.Pro59Ala) | |
X | g.108598762C>T | CA413845722 | COL4A5 | c.1840C>T (p.Pro614Ser) n.1296C>T c.1516C>T (p.Pro506Ser) c.1855C>T (p.Pro619Ser) c.175C>T (p.Pro59Ser) | COSMIC COSMIC |
X | g.108598763C>A | CA413845723 | COL4A5 | c.1841C>A (p.Pro614Gln) n.1297C>A c.1517C>A (p.Pro506Gln) c.1856C>A (p.Pro619Gln) c.176C>A (p.Pro59Gln) | |
X | g.108598763C>G | CA413845724 | COL4A5 | c.1841C>G (p.Pro614Arg) n.1297C>G c.1517C>G (p.Pro506Arg) c.1856C>G (p.Pro619Arg) c.176C>G (p.Pro59Arg) | |
X | g.108598763C>T | CA413845725 | COL4A5 | c.1841C>T (p.Pro614Leu) n.1297C>T c.1517C>T (p.Pro506Leu) c.1856C>T (p.Pro619Leu) c.176C>T (p.Pro59Leu) | |
X | g.108598763_108598772delinsCAGGGAATAT | CA2450688827 | COL4A5 | c.1841_1850delinsCAGGGAATAT (p.Pro614=) n.1297_1306delinsCAGGGAATAT c.1517_1526delinsCAGGGAATAT (p.Pro506=) c.1856_1865delinsCAGGGAATAT (p.Pro619=) c.176_185delinsCAGGGAATAT (p.Pro59=) | |
X | g.108598764A>C | CA517922390 | COL4A5 | c.1842A>C (p.Pro614=) n.1298A>C c.1518A>C (p.Pro506=) c.1857A>C (p.Pro619=) c.177A>C (p.Pro59=) | |
X | g.108598764A>G | CA517922391 | COL4A5 | c.1842A>G (p.Pro614=) n.1298A>G c.1518A>G (p.Pro506=) c.1857A>G (p.Pro619=) c.177A>G (p.Pro59=) | |
X | g.108598764A>T | CA517922393 | COL4A5 | c.1842A>T (p.Pro614=) n.1298A>T c.1518A>T (p.Pro506=) c.1857A>T (p.Pro619=) c.177A>T (p.Pro59=) | |
X | g.108598768_108598776del | CA891843930 | COL4A5 | c.1846_1854del (p.Asn616_Gly618del) n.1302_1310del c.1522_1530del (p.Asn508_Gly510del) c.1861_1869del (p.Asn621_Gly623del) c.181_189del (p.Asn61_Gly63del) | |
X | g.108598765G>A | CA413845727 | COL4A5 | c.1843G>A (p.Gly615Arg) n.1299G>A c.1519G>A (p.Gly507Arg) c.1858G>A (p.Gly620Arg) c.178G>A (p.Gly60Arg) | ClinVar dbSNP |
X | g.108598765G>C | CA413845728 | COL4A5 | c.1843G>C (p.Gly615Arg) n.1299G>C c.1519G>C (p.Gly507Arg) c.1858G>C (p.Gly620Arg) c.178G>C (p.Gly60Arg) | |
X | g.108598765G= | CA2450688828 | COL4A5 | c.1843G= (p.Gly615=) n.1299G= c.1519G= (p.Gly507=) c.1858G= (p.Gly620=) c.178G= (p.Gly60=) | |
X | g.108598765G>T | CA413845726 | COL4A5 | c.1843G>T (p.Gly615Trp) n.1299G>T c.1519G>T (p.Gly507Trp) c.1858G>T (p.Gly620Trp) c.178G>T (p.Gly60Trp) | |
X | g.108598767del | CA2695235630 | COL4A5 | c.1845del (p.Asn616IlefsTer2) n.1301del c.1521del (p.Asn508IlefsTer2) c.1860del (p.Asn621IlefsTer2) c.180del (p.Asn61IlefsTer2) | |
X | g.108598766G>A | CA275123 | COL4A5 | c.1844G>A (p.Gly615Glu) n.1300G>A c.1520G>A (p.Gly507Glu) c.1859G>A (p.Gly620Glu) c.179G>A (p.Gly60Glu) | ClinVar dbSNP gnomAD v4 |
X | g.108598766G>C | CA413845729 | COL4A5 | c.1844G>C (p.Gly615Ala) n.1300G>C c.1520G>C (p.Gly507Ala) c.1859G>C (p.Gly620Ala) c.179G>C (p.Gly60Ala) | |
X | g.108598766G= | CA2450688829 | COL4A5 | c.1844G= (p.Gly615=) n.1300G= c.1520G= (p.Gly507=) c.1859G= (p.Gly620=) c.179G= (p.Gly60=) | |
X | g.108598766G>T | CA413845730 | COL4A5 | c.1844G>T (p.Gly615Val) n.1300G>T c.1520G>T (p.Gly507Val) c.1859G>T (p.Gly620Val) c.179G>T (p.Gly60Val) | |
X | g.108598767G>A | CA517922397 | COL4A5 | c.1845G>A (p.Gly615=) n.1301G>A c.1521G>A (p.Gly507=) c.1860G>A (p.Gly620=) c.180G>A (p.Gly60=) | dbSNP gnomAD v4 COSMIC |
X | g.108598767G>C | CA517922399 | COL4A5 | c.1845G>C (p.Gly615=) n.1301G>C c.1521G>C (p.Gly507=) c.1860G>C (p.Gly620=) c.180G>C (p.Gly60=) | ClinVar |
X | g.108598767G>T | CA517922400 | COL4A5 | c.1845G>T (p.Gly615=) n.1301G>T c.1521G>T (p.Gly507=) c.1860G>T (p.Gly620=) c.180G>T (p.Gly60=) | |
X | g.108598768A= | CA2450688830 | COL4A5 | c.1846A= (p.Asn616=) n.1302A= c.1522A= (p.Asn508=) c.1861A= (p.Asn621=) c.181A= (p.Asn61=) | |
X | g.108598768A>C | CA413845731 | COL4A5 | c.1846A>C (p.Asn616His) n.1302A>C c.1522A>C (p.Asn508His) c.1861A>C (p.Asn621His) c.181A>C (p.Asn61His) | |
X | g.108598768A>G | CA413845732 | COL4A5 | c.1846A>G (p.Asn616Asp) n.1302A>G c.1522A>G (p.Asn508Asp) c.1861A>G (p.Asn621Asp) c.181A>G (p.Asn61Asp) | gnomAD v4 |
X | g.108598768A>T | CA10488802 | COL4A5 | c.1846A>T (p.Asn616Tyr) n.1302A>T c.1522A>T (p.Asn508Tyr) c.1861A>T (p.Asn621Tyr) c.181A>T (p.Asn61Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108598769A>C | CA413845733 | COL4A5 | c.1847A>C (p.Asn616Thr) n.1303A>C c.1523A>C (p.Asn508Thr) c.1862A>C (p.Asn621Thr) c.182A>C (p.Asn61Thr) | |
X | g.108598769A>G | CA413845734 | COL4A5 | c.1847A>G (p.Asn616Ser) n.1303A>G c.1523A>G (p.Asn508Ser) c.1862A>G (p.Asn621Ser) c.182A>G (p.Asn61Ser) | |
X | g.108598769A>T | CA413845735 | COL4A5 | c.1847A>T (p.Asn616Ile) n.1303A>T c.1523A>T (p.Asn508Ile) c.1862A>T (p.Asn621Ile) c.182A>T (p.Asn61Ile) | |
X | g.108598770T>A | CA413845736 | COL4A5 | c.1848T>A (p.Asn616Lys) n.1304T>A c.1524T>A (p.Asn508Lys) c.1863T>A (p.Asn621Lys) c.183T>A (p.Asn61Lys) | COSMIC COSMIC |
X | g.108598770T>C | CA517922401 | COL4A5 | c.1848T>C (p.Asn616=) n.1304T>C c.1524T>C (p.Asn508=) c.1863T>C (p.Asn621=) c.183T>C (p.Asn61=) | ClinVar |
X | g.108598770T>G | CA413845737 | COL4A5 | c.1848T>G (p.Asn616Lys) n.1304T>G c.1524T>G (p.Asn508Lys) c.1863T>G (p.Asn621Lys) c.183T>G (p.Asn61Lys) | |
X | g.108598771A= | CA2450688831 | COL4A5 | c.1849A= (p.Ile617=) n.1305A= c.1525A= (p.Ile509=) c.1864A= (p.Ile622=) c.184A= (p.Ile62=) | |
X | g.108598771A>C | CA413845738 | COL4A5 | c.1849A>C (p.Ile617Leu) n.1305A>C c.1525A>C (p.Ile509Leu) c.1864A>C (p.Ile622Leu) c.184A>C (p.Ile62Leu) | |
X | g.108598771A>G | CA334038930 | COL4A5 | c.1849A>G (p.Ile617Val) n.1305A>G c.1525A>G (p.Ile509Val) c.1864A>G (p.Ile622Val) c.184A>G (p.Ile62Val) | dbSNP gnomAD v4 |
X | g.108598771A>T | CA413845739 | COL4A5 | c.1849A>T (p.Ile617Leu) n.1305A>T c.1525A>T (p.Ile509Leu) c.1864A>T (p.Ile622Leu) c.184A>T (p.Ile62Leu) | |
X | g.108598772T>A | CA413845740 | COL4A5 | c.1850T>A (p.Ile617Lys) n.1306T>A c.1526T>A (p.Ile509Lys) c.1865T>A (p.Ile622Lys) c.185T>A (p.Ile62Lys) | |
X | g.108598772T>C | CA413845742 | COL4A5 | c.1850T>C (p.Ile617Thr) n.1306T>C c.1526T>C (p.Ile509Thr) c.1865T>C (p.Ile622Thr) c.185T>C (p.Ile62Thr) | |
X | g.108598772T>G | CA413845741 | COL4A5 | c.1850T>G (p.Ile617Arg) n.1306T>G c.1526T>G (p.Ile509Arg) c.1865T>G (p.Ile622Arg) c.185T>G (p.Ile62Arg) | |
X | g.108598773A>C | CA517922405 | COL4A5 | c.1851A>C (p.Ile617=) n.1307A>C c.1527A>C (p.Ile509=) c.1866A>C (p.Ile622=) c.186A>C (p.Ile62=) | |
X | g.108598773A>G | CA413845743 | COL4A5 | c.1851A>G (p.Ile617Met) n.1307A>G c.1527A>G (p.Ile509Met) c.1866A>G (p.Ile622Met) c.186A>G (p.Ile62Met) | |
X | g.108598773A>T | CA517922407 | COL4A5 | c.1851A>T (p.Ile617=) n.1307A>T c.1527A>T (p.Ile509=) c.1866A>T (p.Ile622=) c.186A>T (p.Ile62=) | |
X | g.108598774G>A | CA413845744 | COL4A5 | c.1852G>A (p.Gly618Arg) n.1308G>A c.1528G>A (p.Gly510Arg) c.1867G>A (p.Gly623Arg) c.187G>A (p.Gly63Arg) | |
X | g.108598774G>C | CA413845745 | COL4A5 | c.1852G>C (p.Gly618Arg) n.1308G>C c.1528G>C (p.Gly510Arg) c.1867G>C (p.Gly623Arg) c.187G>C (p.Gly63Arg) | |
X | g.108598774G= | CA2450688832 | COL4A5 | c.1852G= (p.Gly618=) n.1308G= c.1528G= (p.Gly510=) c.1867G= (p.Gly623=) c.187G= (p.Gly63=) | |
X | g.108598774G>T | CA413845746 | COL4A5 | c.1852G>T (p.Gly618Trp) n.1308G>T c.1528G>T (p.Gly510Trp) c.1867G>T (p.Gly623Trp) c.187G>T (p.Gly63Trp) | dbSNP |
X | g.108598775G>A | CA413845747 | COL4A5 | c.1853G>A (p.Gly618Glu) n.1309G>A c.1529G>A (p.Gly510Glu) c.1868G>A (p.Gly623Glu) c.188G>A (p.Gly63Glu) | |
X | g.108598775G>C | CA413845748 | COL4A5 | c.1853G>C (p.Gly618Ala) n.1309G>C c.1529G>C (p.Gly510Ala) c.1868G>C (p.Gly623Ala) c.188G>C (p.Gly63Ala) | |
X | g.108598775G>T | CA413845749 | COL4A5 | c.1853G>T (p.Gly618Val) n.1309G>T c.1529G>T (p.Gly510Val) c.1868G>T (p.Gly623Val) c.188G>T (p.Gly63Val) | |
X | g.108598776G>A | CA517922411 | COL4A5 | c.1854G>A (p.Gly618=) n.1310G>A c.1530G>A (p.Gly510=) c.1869G>A (p.Gly623=) c.189G>A (p.Gly63=) | |
X | g.108598776G>C | CA517922413 | COL4A5 | c.1854G>C (p.Gly618=) n.1310G>C c.1530G>C (p.Gly510=) c.1869G>C (p.Gly623=) c.189G>C (p.Gly63=) | |
X | g.108598776G>T | CA517922415 | COL4A5 | c.1854G>T (p.Gly618=) n.1310G>T c.1530G>T (p.Gly510=) c.1869G>T (p.Gly623=) c.189G>T (p.Gly63=) | gnomAD v4 |
X | g.108598777C>A | CA413845750 | COL4A5 | c.1855C>A (p.Pro619Thr) n.1311C>A c.1531C>A (p.Pro511Thr) c.1870C>A (p.Pro624Thr) c.190C>A (p.Pro64Thr) | gnomAD v4 |
X | g.108598777C= | CA2450688833 | COL4A5 | c.1855C= (p.Pro619=) n.1311C= c.1531C= (p.Pro511=) c.1870C= (p.Pro624=) c.190C= (p.Pro64=) | |
X | g.108598777C>G | CA413845751 | COL4A5 | c.1855C>G (p.Pro619Ala) n.1311C>G c.1531C>G (p.Pro511Ala) c.1870C>G (p.Pro624Ala) c.190C>G (p.Pro64Ala) | |
X | g.108598777C>T | CA413845752 | COL4A5 | c.1855C>T (p.Pro619Ser) n.1311C>T c.1531C>T (p.Pro511Ser) c.1870C>T (p.Pro624Ser) c.190C>T (p.Pro64Ser) | ClinVar dbSNP |
X | g.108598778C>A | CA413845753 | COL4A5 | c.1856C>A (p.Pro619His) n.1312C>A c.1532C>A (p.Pro511His) c.1871C>A (p.Pro624His) c.191C>A (p.Pro64His) | |
X | g.108598778C= | CA2450688834 | COL4A5 | c.1856C= (p.Pro619=) n.1312C= c.1532C= (p.Pro511=) c.1871C= (p.Pro624=) c.191C= (p.Pro64=) | |
X | g.108598778C>G | CA413845754 | COL4A5 | c.1856C>G (p.Pro619Arg) n.1312C>G c.1532C>G (p.Pro511Arg) c.1871C>G (p.Pro624Arg) c.191C>G (p.Pro64Arg) | |
X | g.108598778C>T | CA258555 | COL4A5 | c.1856C>T (p.Pro619Leu) n.1312C>T c.1532C>T (p.Pro511Leu) c.1871C>T (p.Pro624Leu) c.191C>T (p.Pro64Leu) | ClinVar dbSNP |
X | g.108598779T>A | CA517922418 | COL4A5 | c.1857T>A (p.Pro619=) n.1313T>A c.1533T>A (p.Pro511=) c.1872T>A (p.Pro624=) c.192T>A (p.Pro64=) | |
X | g.108598779T>C | CA517922420 | COL4A5 | c.1857T>C (p.Pro619=) n.1313T>C c.1533T>C (p.Pro511=) c.1872T>C (p.Pro624=) c.192T>C (p.Pro64=) | |
X | g.108598779T>G | CA517922421 | COL4A5 | c.1857T>G (p.Pro619=) n.1313T>G c.1533T>G (p.Pro511=) c.1872T>G (p.Pro624=) c.192T>G (p.Pro64=) | |
X | g.108598780A= | CA2450688835 | COL4A5 | c.1858A= (p.Met620=) n.1314A= c.1534A= (p.Met512=) c.1873A= (p.Met625=) c.193A= (p.Met65=) | |
X | g.108598780A>C | CA413845755 | COL4A5 | c.1858A>C (p.Met620Leu) n.1314A>C c.1534A>C (p.Met512Leu) c.1873A>C (p.Met625Leu) c.193A>C (p.Met65Leu) | |
X | g.108598780A>G | CA10488803 | COL4A5 | c.1858A>G (p.Met620Val) n.1314A>G c.1534A>G (p.Met512Val) c.1873A>G (p.Met625Val) c.193A>G (p.Met65Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598780A>T | CA413845756 | COL4A5 | c.1858A>T (p.Met620Leu) n.1314A>T c.1534A>T (p.Met512Leu) c.1873A>T (p.Met625Leu) c.193A>T (p.Met65Leu) | |
X | g.108598781T>A | CA413845757 | COL4A5 | c.1859T>A (p.Met620Lys) n.1315T>A c.1535T>A (p.Met512Lys) c.1874T>A (p.Met625Lys) c.194T>A (p.Met65Lys) | |
X | g.108598781T>C | CA413845758 | COL4A5 | c.1859T>C (p.Met620Thr) n.1315T>C c.1535T>C (p.Met512Thr) c.1874T>C (p.Met625Thr) c.194T>C (p.Met65Thr) | |
X | g.108598781T>G | CA413845759 | COL4A5 | c.1859T>G (p.Met620Arg) n.1315T>G c.1535T>G (p.Met512Arg) c.1874T>G (p.Met625Arg) c.194T>G (p.Met65Arg) | |
X | g.108598782G>A | CA413845760 | COL4A5 | c.1860G>A (p.Met620Ile) n.1316G>A c.1536G>A (p.Met512Ile) c.1875G>A (p.Met625Ile) c.195G>A (p.Met65Ile) | dbSNP |
X | g.108598782G>C | CA413845761 | COL4A5 | c.1860G>C (p.Met620Ile) n.1316G>C c.1536G>C (p.Met512Ile) c.1875G>C (p.Met625Ile) c.195G>C (p.Met65Ile) | |
X | g.108598782G= | CA2450688836 | COL4A5 | c.1860G= (p.Met620=) n.1316G= c.1536G= (p.Met512=) c.1875G= (p.Met625=) c.195G= (p.Met65=) | |
X | g.108598782G>T | CA413845762 | COL4A5 | c.1860G>T (p.Met620Ile) n.1316G>T c.1536G>T (p.Met512Ile) c.1875G>T (p.Met625Ile) c.195G>T (p.Met65Ile) | |
X | g.108598783_108598784del | CA2579676326 | COL4A5 | c.1861_1862del (p.Gly621SerfsTer12) n.1317_1318del c.1537_1538del (p.Gly513SerfsTer12) c.1876_1877del (p.Gly626SerfsTer12) c.196_197del (p.Gly66SerfsTer12) | |
X | g.108598783G>A | CA334038941 | COL4A5 | c.1861G>A (p.Gly621Ser) n.1317G>A c.1537G>A (p.Gly513Ser) c.1876G>A (p.Gly626Ser) c.196G>A (p.Gly66Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108598783G>C | CA413845763 | COL4A5 | c.1861G>C (p.Gly621Arg) n.1317G>C c.1537G>C (p.Gly513Arg) c.1876G>C (p.Gly626Arg) c.196G>C (p.Gly66Arg) | |
X | g.108598783G= | CA2450688837 | COL4A5 | c.1861G= (p.Gly621=) n.1317G= c.1537G= (p.Gly513=) c.1876G= (p.Gly626=) c.196G= (p.Gly66=) | |
X | g.108598783G>T | CA258558 | COL4A5 | c.1861G>T (p.Gly621Cys) n.1317G>T c.1537G>T (p.Gly513Cys) c.1876G>T (p.Gly626Cys) c.196G>T (p.Gly66Cys) | dbSNP |
X | g.108598784G>A | CA413845765 | COL4A5 | c.1862G>A (p.Gly621Asp) n.1318G>A c.1538G>A (p.Gly513Asp) c.1877G>A (p.Gly626Asp) c.197G>A (p.Gly66Asp) | ClinVar dbSNP |
X | g.108598784G>C | CA413845766 | COL4A5 | c.1862G>C (p.Gly621Ala) n.1318G>C c.1538G>C (p.Gly513Ala) c.1877G>C (p.Gly626Ala) c.197G>C (p.Gly66Ala) | |
X | g.108598784G= | CA2450688838 | COL4A5 | c.1862G= (p.Gly621=) n.1318G= c.1538G= (p.Gly513=) c.1877G= (p.Gly626=) c.197G= (p.Gly66=) | |
X | g.108598784G>T | CA413845764 | COL4A5 | c.1862G>T (p.Gly621Val) n.1318G>T c.1538G>T (p.Gly513Val) c.1877G>T (p.Gly626Val) c.197G>T (p.Gly66Val) | |
X | g.108598785T>A | CA334038946 | COL4A5 | c.1863T>A (p.Gly621=) n.1319T>A c.1539T>A (p.Gly513=) c.1878T>A (p.Gly626=) c.198T>A (p.Gly66=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108598785T>C | CA517922424 | COL4A5 | c.1863T>C (p.Gly621=) n.1319T>C c.1539T>C (p.Gly513=) c.1878T>C (p.Gly626=) c.198T>C (p.Gly66=) | |
X | g.108598785T>G | CA517922425 | COL4A5 | c.1863T>G (p.Gly621=) n.1319T>G c.1539T>G (p.Gly513=) c.1878T>G (p.Gly626=) c.198T>G (p.Gly66=) | |
X | g.108598785T= | CA2450688839 | COL4A5 | c.1863T= (p.Gly621=) n.1319T= c.1539T= (p.Gly513=) c.1878T= (p.Gly626=) c.198T= (p.Gly66=) | |
X | g.108598786C>A | CA413845767 | COL4A5 | c.1864C>A (p.Pro622Thr) n.1320C>A c.1540C>A (p.Pro514Thr) c.1879C>A (p.Pro627Thr) c.199C>A (p.Pro67Thr) | |
X | g.108598786C= | CA2450688840 | COL4A5 | c.1864C= (p.Pro622=) n.1320C= c.1540C= (p.Pro514=) c.1879C= (p.Pro627=) c.199C= (p.Pro67=) | |
X | g.108598786C>G | CA413845768 | COL4A5 | c.1864C>G (p.Pro622Ala) n.1320C>G c.1540C>G (p.Pro514Ala) c.1879C>G (p.Pro627Ala) c.199C>G (p.Pro67Ala) | gnomAD v4 |
X | g.108598786C>T | CA10488804 | COL4A5 | c.1864C>T (p.Pro622Ser) n.1320C>T c.1540C>T (p.Pro514Ser) c.1879C>T (p.Pro627Ser) c.199C>T (p.Pro67Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108598790dup | CA2832572268 | COL4A5 | c.1868dup (p.Gly624TrpfsTer10) n.1324dup c.1544dup (p.Gly516TrpfsTer10) c.1883dup (p.Gly629TrpfsTer10) c.203dup (p.Gly69TrpfsTer10) | |
X | g.108598787C>A | CA413845769 | COL4A5 | c.1865C>A (p.Pro622His) n.1321C>A c.1541C>A (p.Pro514His) c.1880C>A (p.Pro627His) c.200C>A (p.Pro67His) | gnomAD v4 |
X | g.108598787C>G | CA413845770 | COL4A5 | c.1865C>G (p.Pro622Arg) n.1321C>G c.1541C>G (p.Pro514Arg) c.1880C>G (p.Pro627Arg) c.200C>G (p.Pro67Arg) | gnomAD v4 |
X | g.108598787C>T | CA413845771 | COL4A5 | c.1865C>T (p.Pro622Leu) n.1321C>T c.1541C>T (p.Pro514Leu) c.1880C>T (p.Pro627Leu) c.200C>T (p.Pro67Leu) | |
X | g.108598788C>A | CA517922429 | COL4A5 | c.1866C>A (p.Pro622=) n.1322C>A c.1542C>A (p.Pro514=) c.1881C>A (p.Pro627=) c.201C>A (p.Pro67=) | |
X | g.108598788C= | CA2450688841 | COL4A5 | c.1866C= (p.Pro622=) n.1322C= c.1542C= (p.Pro514=) c.1881C= (p.Pro627=) c.201C= (p.Pro67=) | |
X | g.108598788C>G | CA517922430 | COL4A5 | c.1866C>G (p.Pro622=) n.1322C>G c.1542C>G (p.Pro514=) c.1881C>G (p.Pro627=) c.201C>G (p.Pro67=) | |
X | g.108598788C>T | CA334038959 | COL4A5 | c.1866C>T (p.Pro622=) n.1322C>T c.1542C>T (p.Pro514=) c.1881C>T (p.Pro627=) c.201C>T (p.Pro67=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598789C>A | CA413845772 | COL4A5 | c.1867C>A (p.Pro623Thr) n.1323C>A c.1543C>A (p.Pro515Thr) c.1882C>A (p.Pro628Thr) c.202C>A (p.Pro68Thr) | |
X | g.108598789C>G | CA413845773 | COL4A5 | c.1867C>G (p.Pro623Ala) n.1323C>G c.1543C>G (p.Pro515Ala) c.1882C>G (p.Pro628Ala) c.202C>G (p.Pro68Ala) | |
X | g.108598789C>T | CA413845774 | COL4A5 | c.1867C>T (p.Pro623Ser) n.1323C>T c.1543C>T (p.Pro515Ser) c.1882C>T (p.Pro628Ser) c.202C>T (p.Pro68Ser) | COSMIC |
X | g.108598790C>A | CA413845775 | COL4A5 | c.1868C>A (p.Pro623His) n.1324C>A c.1544C>A (p.Pro515His) c.1883C>A (p.Pro628His) c.203C>A (p.Pro68His) | |
X | g.108598790C>G | CA413845776 | COL4A5 | c.1868C>G (p.Pro623Arg) n.1324C>G c.1544C>G (p.Pro515Arg) c.1883C>G (p.Pro628Arg) c.203C>G (p.Pro68Arg) | |
X | g.108598790C>T | CA413845777 | COL4A5 | c.1868C>T (p.Pro623Leu) n.1324C>T c.1544C>T (p.Pro515Leu) c.1883C>T (p.Pro628Leu) c.203C>T (p.Pro68Leu) | |
X | g.108598790_108598791delinsCT | CA2450688842 | COL4A5 | c.1868_1869delinsCT (p.Pro623=) n.1324_1325delinsCT c.1544_1545delinsCT (p.Pro515=) c.1883_1884delinsCT (p.Pro628=) c.203_204delinsCT (p.Pro68=) | |
X | g.108598791del | CA645293930 | COL4A5 | c.1869del (p.Gly624ValfsTer8) n.1325del c.1545del (p.Gly516ValfsTer8) c.1884del (p.Gly629ValfsTer8) c.204del (p.Gly69ValfsTer8) | ClinVar dbSNP |
X | g.108598791T>A | CA517922432 | COL4A5 | c.1869T>A (p.Pro623=) n.1325T>A c.1545T>A (p.Pro515=) c.1884T>A (p.Pro628=) c.204T>A (p.Pro68=) | |
X | g.108598791T>C | CA517922433 | COL4A5 | c.1869T>C (p.Pro623=) n.1325T>C c.1545T>C (p.Pro515=) c.1884T>C (p.Pro628=) c.204T>C (p.Pro68=) | |
X | g.108598791T>G | CA517922434 | COL4A5 | c.1869T>G (p.Pro623=) n.1325T>G c.1545T>G (p.Pro515=) c.1884T>G (p.Pro628=) c.204T>G (p.Pro68=) | |
X | g.108598792G>A | CA413845780 | COL4A5 | c.1870G>A (p.Gly624Ser) n.1326G>A c.1546G>A (p.Gly516Ser) c.1885G>A (p.Gly629Ser) c.205G>A (p.Gly69Ser) | |
X | g.108598792G>C | CA413845779 | COL4A5 | c.1870G>C (p.Gly624Arg) n.1326G>C c.1546G>C (p.Gly516Arg) c.1885G>C (p.Gly629Arg) c.205G>C (p.Gly69Arg) | ClinVar gnomAD v4 |
X | g.108598792G>T | CA413845778 | COL4A5 | c.1870G>T (p.Gly624Cys) n.1326G>T c.1546G>T (p.Gly516Cys) c.1885G>T (p.Gly629Cys) c.205G>T (p.Gly69Cys) | |
X | g.108598793G>A | CA258560 | COL4A5 | c.1871G>A (p.Gly624Asp) n.1327G>A c.1547G>A (p.Gly516Asp) c.1886G>A (p.Gly629Asp) c.206G>A (p.Gly69Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598793G>C | CA413845782 | COL4A5 | c.1871G>C (p.Gly624Ala) n.1327G>C c.1547G>C (p.Gly516Ala) c.1886G>C (p.Gly629Ala) c.206G>C (p.Gly69Ala) | |
X | g.108598793G= | CA2450688843 | COL4A5 | c.1871G= (p.Gly624=) n.1327G= c.1547G= (p.Gly516=) c.1886G= (p.Gly629=) c.206G= (p.Gly69=) | |
X | g.108598793G>T | CA413845781 | COL4A5 | c.1871G>T (p.Gly624Val) n.1327G>T c.1547G>T (p.Gly516Val) c.1886G>T (p.Gly629Val) c.206G>T (p.Gly69Val) | ClinVar dbSNP |
X | g.108598794T>A | CA517922438 | COL4A5 | c.1872T>A (p.Gly624=) n.1328T>A c.1548T>A (p.Gly516=) c.1887T>A (p.Gly629=) c.207T>A (p.Gly69=) | |
X | g.108598794T>C | CA517922439 | COL4A5 | c.1872T>C (p.Gly624=) n.1328T>C c.1548T>C (p.Gly516=) c.1887T>C (p.Gly629=) c.207T>C (p.Gly69=) | |
X | g.108598794T>G | CA517922440 | COL4A5 | c.1872T>G (p.Gly624=) n.1328T>G c.1548T>G (p.Gly516=) c.1887T>G (p.Gly629=) c.207T>G (p.Gly69=) | |
X | g.108598794_108598795insGA | CA2568587869 | COL4A5 | c.1872_1873insGA (p.Phe625AspfsTer8) n.1328_1329insGA c.1548_1549insGA (p.Phe517AspfsTer8) c.1887_1888insGA (p.Phe630AspfsTer8) c.207_208insGA (p.Phe70AspfsTer8) | |
X | g.108598795T>A | CA413845783 | COL4A5 | c.1873T>A (p.Phe625Ile) n.1329T>A c.1549T>A (p.Phe517Ile) c.1888T>A (p.Phe630Ile) c.208T>A (p.Phe70Ile) | |
X | g.108598795T>C | CA413845784 | COL4A5 | c.1873T>C (p.Phe625Leu) n.1329T>C c.1549T>C (p.Phe517Leu) c.1888T>C (p.Phe630Leu) c.208T>C (p.Phe70Leu) | |
X | g.108598795T>G | CA413845785 | COL4A5 | c.1873T>G (p.Phe625Val) n.1329T>G c.1549T>G (p.Phe517Val) c.1888T>G (p.Phe630Val) c.208T>G (p.Phe70Val) | |
X | g.108598796T>A | CA413845786 | COL4A5 | c.1874T>A (p.Phe625Tyr) n.1330T>A c.1550T>A (p.Phe517Tyr) c.1889T>A (p.Phe630Tyr) c.209T>A (p.Phe70Tyr) | |
X | g.108598796T>C | CA413845787 | COL4A5 | c.1874T>C (p.Phe625Ser) n.1330T>C c.1550T>C (p.Phe517Ser) c.1889T>C (p.Phe630Ser) c.209T>C (p.Phe70Ser) | |
X | g.108598796T>G | CA413845788 | COL4A5 | c.1874T>G (p.Phe625Cys) n.1330T>G c.1550T>G (p.Phe517Cys) c.1889T>G (p.Phe630Cys) c.209T>G (p.Phe70Cys) | |
X | g.108598797C>A | CA413845789 | COL4A5 | c.1875C>A (p.Phe625Leu) n.1331C>A c.1551C>A (p.Phe517Leu) c.1890C>A (p.Phe630Leu) c.210C>A (p.Phe70Leu) | |
X | g.108598797C= | CA2450688844 | COL4A5 | c.1875C= (p.Phe625=) n.1331C= c.1551C= (p.Phe517=) c.1890C= (p.Phe630=) c.210C= (p.Phe70=) | |
X | g.108598797C>G | CA413845790 | COL4A5 | c.1875C>G (p.Phe625Leu) n.1331C>G c.1551C>G (p.Phe517Leu) c.1890C>G (p.Phe630Leu) c.210C>G (p.Phe70Leu) | |
X | g.108598797C>T | CA517922441 | COL4A5 | c.1875C>T (p.Phe625=) n.1331C>T c.1551C>T (p.Phe517=) c.1890C>T (p.Phe630=) c.210C>T (p.Phe70=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108598798G>A | CA10488805 | COL4A5 | c.1876G>A (p.Gly626Ser) n.1332G>A c.1552G>A (p.Gly518Ser) c.1891G>A (p.Gly631Ser) c.211G>A (p.Gly71Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598798G>C | CA413845791 | COL4A5 | c.1876G>C (p.Gly626Arg) n.1332G>C c.1552G>C (p.Gly518Arg) c.1891G>C (p.Gly631Arg) c.211G>C (p.Gly71Arg) | |
X | g.108598798G= | CA2450688845 | COL4A5 | c.1876G= (p.Gly626=) n.1332G= c.1552G= (p.Gly518=) c.1891G= (p.Gly631=) c.211G= (p.Gly71=) | |
X | g.108598798G>T | CA413845792 | COL4A5 | c.1876G>T (p.Gly626Cys) n.1332G>T c.1552G>T (p.Gly518Cys) c.1891G>T (p.Gly631Cys) c.211G>T (p.Gly71Cys) | |
X | g.108598799G>A | CA413845794 | COL4A5 | c.1877G>A (p.Gly626Asp) n.1333G>A c.1553G>A (p.Gly518Asp) c.1892G>A (p.Gly631Asp) c.212G>A (p.Gly71Asp) | |
X | g.108598799G>C | CA258562 | COL4A5 | c.1877G>C (p.Gly626Ala) n.1333G>C c.1553G>C (p.Gly518Ala) c.1892G>C (p.Gly631Ala) c.212G>C (p.Gly71Ala) | dbSNP |
X | g.108598799G= | CA2450688846 | COL4A5 | c.1877G= (p.Gly626=) n.1333G= c.1553G= (p.Gly518=) c.1892G= (p.Gly631=) c.212G= (p.Gly71=) | |
X | g.108598799G>T | CA413845793 | COL4A5 | c.1877G>T (p.Gly626Val) n.1333G>T c.1553G>T (p.Gly518Val) c.1892G>T (p.Gly631Val) c.212G>T (p.Gly71Val) | ClinVar dbSNP |
X | g.108598800C>A | CA517922442 | COL4A5 | c.1878C>A (p.Gly626=) n.1334C>A c.1554C>A (p.Gly518=) c.1893C>A (p.Gly631=) c.213C>A (p.Gly71=) | |
X | g.108598800C>G | CA517922443 | COL4A5 | c.1878C>G (p.Gly626=) n.1334C>G c.1554C>G (p.Gly518=) c.1893C>G (p.Gly631=) c.213C>G (p.Gly71=) | |
X | g.108598800C>T | CA517922444 | COL4A5 | c.1878C>T (p.Gly626=) n.1334C>T c.1554C>T (p.Gly518=) c.1893C>T (p.Gly631=) c.213C>T (p.Gly71=) | |
X | g.108598801C>A | CA413845795 | COL4A5 | c.1879C>A (p.Pro627Thr) n.1335C>A c.1555C>A (p.Pro519Thr) c.1894C>A (p.Pro632Thr) c.214C>A (p.Pro72Thr) | |
X | g.108598801C>G | CA413845796 | COL4A5 | c.1879C>G (p.Pro627Ala) n.1335C>G c.1555C>G (p.Pro519Ala) c.1894C>G (p.Pro632Ala) c.214C>G (p.Pro72Ala) | |
X | g.108598801C>T | CA413845797 | COL4A5 | c.1879C>T (p.Pro627Ser) n.1335C>T c.1555C>T (p.Pro519Ser) c.1894C>T (p.Pro632Ser) c.214C>T (p.Pro72Ser) | gnomAD v4 |
X | g.108598802C>A | CA413845798 | COL4A5 | c.1880C>A (p.Pro627His) n.1336C>A c.1556C>A (p.Pro519His) c.1895C>A (p.Pro632His) c.215C>A (p.Pro72His) | |
X | g.108598802C>G | CA413845799 | COL4A5 | c.1880C>G (p.Pro627Arg) n.1336C>G c.1556C>G (p.Pro519Arg) c.1895C>G (p.Pro632Arg) c.215C>G (p.Pro72Arg) | |
X | g.108598802C>T | CA413845800 | COL4A5 | c.1880C>T (p.Pro627Leu) n.1336C>T c.1556C>T (p.Pro519Leu) c.1895C>T (p.Pro632Leu) c.215C>T (p.Pro72Leu) | COSMIC COSMIC |
X | g.108598803T>A | CA517922445 | COL4A5 | c.1881T>A (p.Pro627=) n.1337T>A c.1557T>A (p.Pro519=) c.1896T>A (p.Pro632=) c.216T>A (p.Pro72=) | |
X | g.108598803T>C | CA517922447 | COL4A5 | c.1881T>C (p.Pro627=) n.1337T>C c.1557T>C (p.Pro519=) c.1896T>C (p.Pro632=) c.216T>C (p.Pro72=) | |
X | g.108598803T>G | CA517922446 | COL4A5 | c.1881T>G (p.Pro627=) n.1337T>G c.1557T>G (p.Pro519=) c.1896T>G (p.Pro632=) c.216T>G (p.Pro72=) | dbSNP |
X | g.108598803T= | CA2450688847 | COL4A5 | c.1881T= (p.Pro627=) n.1337T= c.1557T= (p.Pro519=) c.1896T= (p.Pro632=) c.216T= (p.Pro72=) | |
X | g.108598804C>A | CA413845801 | COL4A5 | c.1882C>A (p.Pro628Thr) n.1338C>A c.1558C>A (p.Pro520Thr) c.1897C>A (p.Pro633Thr) c.217C>A (p.Pro73Thr) | |
X | g.108598804C>G | CA413845802 | COL4A5 | c.1882C>G (p.Pro628Ala) n.1338C>G c.1558C>G (p.Pro520Ala) c.1897C>G (p.Pro633Ala) c.217C>G (p.Pro73Ala) | |
X | g.108598804C>T | CA413845803 | COL4A5 | c.1882C>T (p.Pro628Ser) n.1338C>T c.1558C>T (p.Pro520Ser) c.1897C>T (p.Pro633Ser) c.217C>T (p.Pro73Ser) | |
X | g.108598805C>A | CA10488806 | COL4A5 | c.1883C>A (p.Pro628Gln) n.1339C>A c.1559C>A (p.Pro520Gln) c.1898C>A (p.Pro633Gln) c.218C>A (p.Pro73Gln) | dbSNP ExAC gnomAD v2 |
X | g.108598805C= | CA2450688848 | COL4A5 | c.1883C= (p.Pro628=) n.1339C= c.1559C= (p.Pro520=) c.1898C= (p.Pro633=) c.218C= (p.Pro73=) | |
X | g.108598805C>G | CA413845804 | COL4A5 | c.1883C>G (p.Pro628Arg) n.1339C>G c.1559C>G (p.Pro520Arg) c.1898C>G (p.Pro633Arg) c.218C>G (p.Pro73Arg) | |
X | g.108598805C>T | CA261066 | COL4A5 | c.1883C>T (p.Pro628Leu) n.1339C>T c.1559C>T (p.Pro520Leu) c.1898C>T (p.Pro633Leu) c.218C>T (p.Pro73Leu) | dbSNP COSMIC COSMIC |
X | g.108598806A>C | CA517922448 | COL4A5 | c.1884A>C (p.Pro628=) n.1340A>C c.1560A>C (p.Pro520=) c.1899A>C (p.Pro633=) c.219A>C (p.Pro73=) | |
X | g.108598806A>G | CA517922449 | COL4A5 | c.1884A>G (p.Pro628=) n.1340A>G c.1560A>G (p.Pro520=) c.1899A>G (p.Pro633=) c.219A>G (p.Pro73=) | |
X | g.108598806A>T | CA517922450 | COL4A5 | c.1884A>T (p.Pro628=) n.1340A>T c.1560A>T (p.Pro520=) c.1899A>T (p.Pro633=) c.219A>T (p.Pro73=) | |
X | g.108598807G>A | CA413845807 | COL4A5 | c.1885G>A (p.Gly629Ser) n.1341G>A c.1561G>A (p.Gly521Ser) c.1900G>A (p.Gly634Ser) c.220G>A (p.Gly74Ser) | |
X | g.108598807G>C | CA413845806 | COL4A5 | c.1885G>C (p.Gly629Arg) n.1341G>C c.1561G>C (p.Gly521Arg) c.1900G>C (p.Gly634Arg) c.220G>C (p.Gly74Arg) | |
X | g.108598807G>T | CA413845805 | COL4A5 | c.1885G>T (p.Gly629Cys) n.1341G>T c.1561G>T (p.Gly521Cys) c.1900G>T (p.Gly634Cys) c.220G>T (p.Gly74Cys) | |
X | g.108598808G>A | CA258565 | COL4A5 | c.1886G>A (p.Gly629Asp) n.1342G>A c.1562G>A (p.Gly521Asp) c.1901G>A (p.Gly634Asp) c.221G>A (p.Gly74Asp) | ClinVar dbSNP |
X | g.108598808G>C | CA413845808 | COL4A5 | c.1886G>C (p.Gly629Ala) n.1342G>C c.1562G>C (p.Gly521Ala) c.1901G>C (p.Gly634Ala) c.221G>C (p.Gly74Ala) | |
X | g.108598808G= | CA2450688849 | COL4A5 | c.1886G= (p.Gly629=) n.1342G= c.1562G= (p.Gly521=) c.1901G= (p.Gly634=) c.221G= (p.Gly74=) | |
X | g.108598808G>T | CA413845809 | COL4A5 | c.1886G>T (p.Gly629Val) n.1342G>T c.1562G>T (p.Gly521Val) c.1901G>T (p.Gly634Val) c.221G>T (p.Gly74Val) | |
X | g.108598809C>A | CA517922451 | COL4A5 | c.1887C>A (p.Gly629=) n.1343C>A c.1563C>A (p.Gly521=) c.1902C>A (p.Gly634=) c.222C>A (p.Gly74=) | |
X | g.108598809C>G | CA517922452 | COL4A5 | c.1887C>G (p.Gly629=) n.1343C>G c.1563C>G (p.Gly521=) c.1902C>G (p.Gly634=) c.222C>G (p.Gly74=) | |
X | g.108598809C>T | CA517922453 | COL4A5 | c.1887C>T (p.Gly629=) n.1343C>T c.1563C>T (p.Gly521=) c.1902C>T (p.Gly634=) c.222C>T (p.Gly74=) | |
X | g.108598810C>A | CA413845810 | COL4A5 | c.1888C>A (p.Pro630Thr) n.1344C>A c.1564C>A (p.Pro522Thr) c.1903C>A (p.Pro635Thr) c.223C>A (p.Pro75Thr) | |
X | g.108598810C>G | CA413845811 | COL4A5 | c.1888C>G (p.Pro630Ala) n.1344C>G c.1564C>G (p.Pro522Ala) c.1903C>G (p.Pro635Ala) c.223C>G (p.Pro75Ala) | |
X | g.108598810C>T | CA413845812 | COL4A5 | c.1888C>T (p.Pro630Ser) n.1344C>T c.1564C>T (p.Pro522Ser) c.1903C>T (p.Pro635Ser) c.223C>T (p.Pro75Ser) | gnomAD v4 |
X | g.108598811C>A | CA413845815 | COL4A5 | c.1889C>A (p.Pro630Gln) n.1345C>A c.1565C>A (p.Pro522Gln) c.1904C>A (p.Pro635Gln) c.224C>A (p.Pro75Gln) | |
X | g.108598811C= | CA2450688850 | COL4A5 | c.1889C= (p.Pro630=) n.1345C= c.1565C= (p.Pro522=) c.1904C= (p.Pro635=) c.224C= (p.Pro75=) | |
X | g.108598811C>G | CA413845814 | COL4A5 | c.1889C>G (p.Pro630Arg) n.1345C>G c.1565C>G (p.Pro522Arg) c.1904C>G (p.Pro635Arg) c.224C>G (p.Pro75Arg) | |
X | g.108598811C>T | CA413845813 | COL4A5 | c.1889C>T (p.Pro630Leu) n.1345C>T c.1565C>T (p.Pro522Leu) c.1904C>T (p.Pro635Leu) c.224C>T (p.Pro75Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598812A>C | CA517922454 | COL4A5 | c.1890A>C (p.Pro630=) n.1346A>C c.1566A>C (p.Pro522=) c.1905A>C (p.Pro635=) c.225A>C (p.Pro75=) | gnomAD v4 |
X | g.108598812A>G | CA517922455 | COL4A5 | c.1890A>G (p.Pro630=) n.1346A>G c.1566A>G (p.Pro522=) c.1905A>G (p.Pro635=) c.225A>G (p.Pro75=) | ClinVar dbSNP gnomAD v4 |
X | g.108598812A>T | CA517922456 | COL4A5 | c.1890A>T (p.Pro630=) n.1346A>T c.1566A>T (p.Pro522=) c.1905A>T (p.Pro635=) c.225A>T (p.Pro75=) | |
X | g.108598813G>A | CA413845816 | COL4A5 | c.1891G>A (p.Val631Ile) n.1347G>A c.1567G>A (p.Val523Ile) c.1906G>A (p.Val636Ile) c.226G>A (p.Val76Ile) | |
X | g.108598813G>C | CA413845817 | COL4A5 | c.1891G>C (p.Val631Leu) n.1347G>C c.1567G>C (p.Val523Leu) c.1906G>C (p.Val636Leu) c.226G>C (p.Val76Leu) | |
X | g.108598813G>T | CA413845818 | COL4A5 | c.1891G>T (p.Val631Leu) n.1347G>T c.1567G>T (p.Val523Leu) c.1906G>T (p.Val636Leu) c.226G>T (p.Val76Leu) | |
X | g.108598814T>A | CA413845819 | COL4A5 | c.1892T>A (p.Val631Glu) n.1348T>A c.1568T>A (p.Val523Glu) c.1907T>A (p.Val636Glu) c.227T>A (p.Val76Glu) | |
X | g.108598814T>C | CA413845820 | COL4A5 | c.1892T>C (p.Val631Ala) n.1348T>C c.1568T>C (p.Val523Ala) c.1907T>C (p.Val636Ala) c.227T>C (p.Val76Ala) | |
X | g.108598814T>G | CA413845821 | COL4A5 | c.1892T>G (p.Val631Gly) n.1348T>G c.1568T>G (p.Val523Gly) c.1907T>G (p.Val636Gly) c.227T>G (p.Val76Gly) | |
X | g.108598815A>C | CA517922460 | COL4A5 | c.1893A>C (p.Val631=) n.1349A>C c.1569A>C (p.Val523=) c.1908A>C (p.Val636=) c.228A>C (p.Val76=) | |
X | g.108598815A>G | CA517922462 | COL4A5 | c.1893A>G (p.Val631=) n.1349A>G c.1569A>G (p.Val523=) c.1908A>G (p.Val636=) c.228A>G (p.Val76=) | |
X | g.108598815A>T | CA517922461 | COL4A5 | c.1893A>T (p.Val631=) n.1349A>T c.1569A>T (p.Val523=) c.1908A>T (p.Val636=) c.228A>T (p.Val76=) | |
X | g.108598816G>A | CA413845822 | COL4A5 | c.1894G>A (p.Gly632Ser) n.1350G>A c.1570G>A (p.Gly524Ser) c.1909G>A (p.Gly637Ser) c.229G>A (p.Gly77Ser) | |
X | g.108598816G>C | CA413845824 | COL4A5 | c.1894G>C (p.Gly632Arg) n.1350G>C c.1570G>C (p.Gly524Arg) c.1909G>C (p.Gly637Arg) c.229G>C (p.Gly77Arg) | |
X | g.108598816G= | CA2450688851 | COL4A5 | c.1894G= (p.Gly632=) n.1350G= c.1570G= (p.Gly524=) c.1909G= (p.Gly637=) c.229G= (p.Gly77=) | |
X | g.108598816G>T | CA413845823 | COL4A5 | c.1894G>T (p.Gly632Cys) n.1350G>T c.1570G>T (p.Gly524Cys) c.1909G>T (p.Gly637Cys) c.229G>T (p.Gly77Cys) | |
X | g.108598817G>A | CA258567 | COL4A5 | c.1895G>A (p.Gly632Asp) n.1351G>A c.1571G>A (p.Gly524Asp) c.1910G>A (p.Gly637Asp) c.230G>A (p.Gly77Asp) | ClinVar dbSNP |
X | g.108598817G>C | CA413845825 | COL4A5 | c.1895G>C (p.Gly632Ala) n.1351G>C c.1571G>C (p.Gly524Ala) c.1910G>C (p.Gly637Ala) c.230G>C (p.Gly77Ala) | |
X | g.108598817G= | CA2450688852 | COL4A5 | c.1895G= (p.Gly632=) n.1351G= c.1571G= (p.Gly524=) c.1910G= (p.Gly637=) c.230G= (p.Gly77=) | |
X | g.108598817G>T | CA413845826 | COL4A5 | c.1895G>T (p.Gly632Val) n.1351G>T c.1571G>T (p.Gly524Val) c.1910G>T (p.Gly637Val) c.230G>T (p.Gly77Val) | ClinVar |