| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601905_108601957dup | CA258613 | COL4A5 | c.2062_2114dup (p.Ile706AsnfsTer?) n.1518_1570dup c.1738_1790dup (p.Ile598AsnfsTer?) c.2077_2129dup (p.Ile711AsnfsTer?) c.397_449dup (p.Ile151AsnfsTer?) | dbSNP |
| X | g.108601937_108601943del | CA2548524649 | COL4A5 | c.2094_2100del (p.Lys698AsnfsTer?) n.1550_1556del c.1770_1776del (p.Lys590AsnfsTer?) c.2109_2115del (p.Lys703AsnfsTer?) c.429_435del (p.Lys143AsnfsTer?) | |
| X | g.108601941G>A | CA413847008 | COL4A5 | c.2098G>A (p.Glu700Lys) n.1554G>A c.1774G>A (p.Glu592Lys) c.2113G>A (p.Glu705Lys) c.433G>A (p.Glu145Lys) | gnomAD v4 |
| X | g.108601941G>C | CA413847009 | COL4A5 | c.2098G>C (p.Glu700Gln) n.1554G>C c.1774G>C (p.Glu592Gln) c.2113G>C (p.Glu705Gln) c.433G>C (p.Glu145Gln) | |
| X | g.108601941G= | CA2450689954 | COL4A5 | c.2098G= (p.Glu700=) n.1554G= c.1774G= (p.Glu592=) c.2113G= (p.Glu705=) c.433G= (p.Glu145=) | |
| X | g.108601941G>T | CA258614 | COL4A5 | c.2098G>T (p.Glu700Ter) n.1554G>T c.1774G>T (p.Glu592Ter) c.2113G>T (p.Glu705Ter) c.433G>T (p.Glu145Ter) | dbSNP |
| X | g.108601942A>C | CA413847010 | COL4A5 | c.2099A>C (p.Glu700Ala) n.1555A>C c.1775A>C (p.Glu592Ala) c.2114A>C (p.Glu705Ala) c.434A>C (p.Glu145Ala) | |
| X | g.108601942A>G | CA413847011 | COL4A5 | c.2099A>G (p.Glu700Gly) n.1555A>G c.1775A>G (p.Glu592Gly) c.2114A>G (p.Glu705Gly) c.434A>G (p.Glu145Gly) | gnomAD v4 |
| X | g.108601942A>T | CA413847012 | COL4A5 | c.2099A>T (p.Glu700Val) n.1555A>T c.1775A>T (p.Glu592Val) c.2114A>T (p.Glu705Val) c.434A>T (p.Glu145Val) | |
| X | g.108601943A= | CA2450689955 | COL4A5 | c.2100A= (p.Glu700=) n.1556A= c.1776A= (p.Glu592=) c.2115A= (p.Glu705=) c.435A= (p.Glu145=) | |
| X | g.108601943A>C | CA413847013 | COL4A5 | c.2100A>C (p.Glu700Asp) n.1556A>C c.1776A>C (p.Glu592Asp) c.2115A>C (p.Glu705Asp) c.435A>C (p.Glu145Asp) | |
| X | g.108601943A>G | CA517922815 | COL4A5 | c.2100A>G (p.Glu700=) n.1556A>G c.1776A>G (p.Glu592=) c.2115A>G (p.Glu705=) c.435A>G (p.Glu145=) | ClinVar dbSNP gnomAD v4 |
| X | g.108601943A>T | CA413847014 | COL4A5 | c.2100A>T (p.Glu700Asp) n.1556A>T c.1776A>T (p.Glu592Asp) c.2115A>T (p.Glu705Asp) c.435A>T (p.Glu145Asp) | |
| X | g.108601944C>A | CA413847015 | COL4A5 | c.2101C>A (p.Pro701Thr) n.1557C>A c.1777C>A (p.Pro593Thr) c.2116C>A (p.Pro706Thr) c.436C>A (p.Pro146Thr) | gnomAD v4 |
| X | g.108601944C= | CA2450689956 | COL4A5 | c.2101C= (p.Pro701=) n.1557C= c.1777C= (p.Pro593=) c.2116C= (p.Pro706=) c.436C= (p.Pro146=) | |
| X | g.108601944C>G | CA413847016 | COL4A5 | c.2101C>G (p.Pro701Ala) n.1557C>G c.1777C>G (p.Pro593Ala) c.2116C>G (p.Pro706Ala) c.436C>G (p.Pro146Ala) | |
| X | g.108601944C>T | CA413847017 | COL4A5 | c.2101C>T (p.Pro701Ser) n.1557C>T c.1777C>T (p.Pro593Ser) c.2116C>T (p.Pro706Ser) c.436C>T (p.Pro146Ser) | dbSNP |
| X | g.108601945C>A | CA413847018 | COL4A5 | c.2102C>A (p.Pro701Gln) n.1558C>A c.1778C>A (p.Pro593Gln) c.2117C>A (p.Pro706Gln) c.437C>A (p.Pro146Gln) | gnomAD v4 |
| X | g.108601945C>G | CA413847019 | COL4A5 | c.2102C>G (p.Pro701Arg) n.1558C>G c.1778C>G (p.Pro593Arg) c.2117C>G (p.Pro706Arg) c.437C>G (p.Pro146Arg) | |
| X | g.108601945C>T | CA413847020 | COL4A5 | c.2102C>T (p.Pro701Leu) n.1558C>T c.1778C>T (p.Pro593Leu) c.2117C>T (p.Pro706Leu) c.437C>T (p.Pro146Leu) | gnomAD v4 |
| X | g.108601945_108601946insCTGG | CA2580100317 | COL4A5 | c.2102_2103insCTGG (p.Gly702TrpfsTer?) n.1558_1559insCTGG c.1778_1779insCTGG (p.Gly594TrpfsTer?) c.2117_2118insCTGG (p.Gly707TrpfsTer?) c.437_438insCTGG (p.Gly147TrpfsTer?) | ClinVar |
| X | g.108601946A>C | CA517922818 | COL4A5 | c.2103A>C (p.Pro701=) n.1559A>C c.1779A>C (p.Pro593=) c.2118A>C (p.Pro706=) c.438A>C (p.Pro146=) | |
| X | g.108601946A>G | CA517922817 | COL4A5 | c.2103A>G (p.Pro701=) n.1559A>G c.1779A>G (p.Pro593=) c.2118A>G (p.Pro706=) c.438A>G (p.Pro146=) | gnomAD v4 |
| X | g.108601946A>T | CA517922816 | COL4A5 | c.2103A>T (p.Pro701=) n.1559A>T c.1779A>T (p.Pro593=) c.2118A>T (p.Pro706=) c.438A>T (p.Pro146=) | gnomAD v4 |
| X | g.108601946_108601947insATTG | CA2580100318 | COL4A5 | c.2103_2104insATTG (p.Gly702IlefsTer?) n.1559_1560insATTG c.1779_1780insATTG (p.Gly594IlefsTer?) c.2118_2119insATTG (p.Gly707IlefsTer?) c.438_439insATTG (p.Gly147IlefsTer?) | ClinVar |
| X | g.108601947G>A | CA10488852 | COL4A5 | c.2104G>A (p.Gly702Ser) n.1560G>A c.1780G>A (p.Gly594Ser) c.2119G>A (p.Gly707Ser) c.439G>A (p.Gly147Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108601947G>C | CA413847021 | COL4A5 | c.2104G>C (p.Gly702Arg) n.1560G>C c.1780G>C (p.Gly594Arg) c.2119G>C (p.Gly707Arg) c.439G>C (p.Gly147Arg) | ClinVar |
| X | g.108601947G= | CA2450689957 | COL4A5 | c.2104G= (p.Gly702=) n.1560G= c.1780G= (p.Gly594=) c.2119G= (p.Gly707=) c.439G= (p.Gly147=) | |
| X | g.108601947G>T | CA413847022 | COL4A5 | c.2104G>T (p.Gly702Cys) n.1560G>T c.1780G>T (p.Gly594Cys) c.2119G>T (p.Gly707Cys) c.439G>T (p.Gly147Cys) | gnomAD v4 |
| X | g.108601948G>A | CA413847023 | COL4A5 | c.2105G>A (p.Gly702Asp) n.1561G>A c.1781G>A (p.Gly594Asp) c.2120G>A (p.Gly707Asp) c.440G>A (p.Gly147Asp) | gnomAD v4 |
| X | g.108601948G>C | CA413847024 | COL4A5 | c.2105G>C (p.Gly702Ala) n.1561G>C c.1781G>C (p.Gly594Ala) c.2120G>C (p.Gly707Ala) c.440G>C (p.Gly147Ala) | gnomAD v4 |
| X | g.108601948G>T | CA413847025 | COL4A5 | c.2105G>T (p.Gly702Val) n.1561G>T c.1781G>T (p.Gly594Val) c.2120G>T (p.Gly707Val) c.440G>T (p.Gly147Val) | ClinVar |
| X | g.108601949T>A | CA517922819 | COL4A5 | c.2106T>A (p.Gly702=) n.1562T>A c.1782T>A (p.Gly594=) c.2121T>A (p.Gly707=) c.441T>A (p.Gly147=) | |
| X | g.108601949T>C | CA517922821 | COL4A5 | c.2106T>C (p.Gly702=) n.1562T>C c.1782T>C (p.Gly594=) c.2121T>C (p.Gly707=) c.441T>C (p.Gly147=) | |
| X | g.108601949T>G | CA517922820 | COL4A5 | c.2106T>G (p.Gly702=) n.1562T>G c.1782T>G (p.Gly594=) c.2121T>G (p.Gly707=) c.441T>G (p.Gly147=) | |
| X | g.108601950A= | CA2450689958 | COL4A5 | c.2107A= (p.Ile703=) n.1563A= c.1783A= (p.Ile595=) c.2122A= (p.Ile708=) c.442A= (p.Ile148=) | |
| X | g.108601950A>C | CA413847027 | COL4A5 | c.2107A>C (p.Ile703Leu) n.1563A>C c.1783A>C (p.Ile595Leu) c.2122A>C (p.Ile708Leu) c.442A>C (p.Ile148Leu) | |
| X | g.108601950A>G | CA258617 | COL4A5 | c.2107A>G (p.Ile703Val) n.1563A>G c.1783A>G (p.Ile595Val) c.2122A>G (p.Ile708Val) c.442A>G (p.Ile148Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108601950A>T | CA413847026 | COL4A5 | c.2107A>T (p.Ile703Phe) n.1563A>T c.1783A>T (p.Ile595Phe) c.2122A>T (p.Ile708Phe) c.442A>T (p.Ile148Phe) | |
| X | g.108601951T>A | CA413847028 | COL4A5 | c.2108T>A (p.Ile703Asn) n.1564T>A c.1784T>A (p.Ile595Asn) c.2123T>A (p.Ile708Asn) c.443T>A (p.Ile148Asn) | |
| X | g.108601951T>C | CA413847029 | COL4A5 | c.2108T>C (p.Ile703Thr) n.1564T>C c.1784T>C (p.Ile595Thr) c.2123T>C (p.Ile708Thr) c.443T>C (p.Ile148Thr) | |
| X | g.108601951T>G | CA413847030 | COL4A5 | c.2108T>G (p.Ile703Ser) n.1564T>G c.1784T>G (p.Ile595Ser) c.2123T>G (p.Ile708Ser) c.443T>G (p.Ile148Ser) | |
| X | g.108601952C>A | CA10488853 | COL4A5 | c.2109C>A (p.Ile703=) n.1565C>A c.1785C>A (p.Ile595=) c.2124C>A (p.Ile708=) c.444C>A (p.Ile148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108601952C= | CA2450689959 | COL4A5 | c.2109C= (p.Ile703=) n.1565C= c.1785C= (p.Ile595=) c.2124C= (p.Ile708=) c.444C= (p.Ile148=) | |
| X | g.108601952C>G | CA413847031 | COL4A5 | c.2109C>G (p.Ile703Met) n.1565C>G c.1785C>G (p.Ile595Met) c.2124C>G (p.Ile708Met) c.444C>G (p.Ile148Met) | |
| X | g.108601952C>T | CA517922822 | COL4A5 | c.2109C>T (p.Ile703=) n.1565C>T c.1785C>T (p.Ile595=) c.2124C>T (p.Ile708=) c.444C>T (p.Ile148=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108601953C>A | CA413847032 | COL4A5 | c.2110C>A (p.Pro704Thr) n.1566C>A c.1786C>A (p.Pro596Thr) c.2125C>A (p.Pro709Thr) c.445C>A (p.Pro149Thr) | gnomAD v4 |
| X | g.108601953C= | CA2450689960 | COL4A5 | c.2110C= (p.Pro704=) n.1566C= c.1786C= (p.Pro596=) c.2125C= (p.Pro709=) c.445C= (p.Pro149=) | |
| X | g.108601953C>G | CA413847033 | COL4A5 | c.2110C>G (p.Pro704Ala) n.1566C>G c.1786C>G (p.Pro596Ala) c.2125C>G (p.Pro709Ala) c.445C>G (p.Pro149Ala) | |
| X | g.108601953C>T | CA413847034 | COL4A5 | c.2110C>T (p.Pro704Ser) n.1566C>T c.1786C>T (p.Pro596Ser) c.2125C>T (p.Pro709Ser) c.445C>T (p.Pro149Ser) | dbSNP gnomAD v4 |