Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108577932_108577933del | CA2694411976 | COL4A5 | c.610-20_610-19del (n.610-20_610-19del) c.286-20_286-19del (n.286-20_286-19del) c.625-20_625-19del (n.625-20_625-19del) | gnomAD v4 |
X | g.108577931T>C | CA2579675929 | COL4A5 | c.610-21T>C (n.610-21T>C) c.286-21T>C (n.286-21T>C) c.625-21T>C (n.625-21T>C) | |
X | g.108577932C>A | CA2694411978 | COL4A5 | c.610-20C>A (n.610-20C>A) c.286-20C>A (n.286-20C>A) c.625-20C>A (n.625-20C>A) | gnomAD v4 |
X | g.108577932C= | CA2450682158 | COL4A5 | c.610-20C= (n.610-20C=) c.286-20C= (n.286-20C=) c.625-20C= (n.625-20C=) | |
X | g.108577932C>G | CA2450682159 | COL4A5 | c.610-20C>G (n.610-20C>G) c.286-20C>G (n.286-20C>G) c.625-20C>G (n.625-20C>G) | dbSNP |
X | g.108577933T>C | CA1136179032 | COL4A5 | c.610-19T>C (n.610-19T>C) c.286-19T>C (n.286-19T>C) c.625-19T>C (n.625-19T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108577933T= | CA2450682160 | COL4A5 | c.610-19T= (n.610-19T=) c.286-19T= (n.286-19T=) c.625-19T= (n.625-19T=) | |
X | g.108577936del | CA2694411980 | COL4A5 | c.610-16del (n.610-16del) c.286-16del (n.286-16del) c.625-16del (n.625-16del) | gnomAD v4 |
X | g.108577934T>C | CA2694411984 | COL4A5 | c.610-18T>C (n.610-18T>C) c.286-18T>C (n.286-18T>C) c.625-18T>C (n.625-18T>C) | gnomAD v4 |
X | g.108577934T>G | CA2694411982 | COL4A5 | c.610-18T>G (n.610-18T>G) c.286-18T>G (n.286-18T>G) c.625-18T>G (n.625-18T>G) | gnomAD v4 |
X | g.108577936T>C | CA643749900 | COL4A5 | c.610-16T>C (n.610-16T>C) c.286-16T>C (n.286-16T>C) c.625-16T>C (n.625-16T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108577936T= | CA2450682161 | COL4A5 | c.610-16T= (n.610-16T=) c.286-16T= (n.286-16T=) c.625-16T= (n.625-16T=) | |
X | g.108577937G>A | CA2694411987 | COL4A5 | c.610-15G>A (n.610-15G>A) c.286-15G>A (n.286-15G>A) c.625-15G>A (n.625-15G>A) | gnomAD v4 |
X | g.108577938T>C | CA2694411988 | COL4A5 | c.610-14T>C (n.610-14T>C) c.286-14T>C (n.286-14T>C) c.625-14T>C (n.625-14T>C) | gnomAD v4 |
X | g.108577939C>A | CA2694411990 | COL4A5 | c.610-13C>A (n.610-13C>A) c.286-13C>A (n.286-13C>A) c.625-13C>A (n.625-13C>A) | gnomAD v4 |
X | g.108577939C= | CA2450682162 | COL4A5 | c.610-13C= (n.610-13C=) c.286-13C= (n.286-13C=) c.625-13C= (n.625-13C=) | |
X | g.108577939C>T | CA334180191 | COL4A5 | c.610-13C>T (n.610-13C>T) c.286-13C>T (n.286-13C>T) c.625-13C>T (n.625-13C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108577941T>C | CA2694411992 | COL4A5 | c.610-11T>C (n.610-11T>C) c.286-11T>C (n.286-11T>C) c.625-11T>C (n.625-11T>C) | gnomAD v4 |
X | g.108577944C>T | CA2822894549 | COL4A5 | c.610-8C>T (n.610-8C>T) c.286-8C>T (n.286-8C>T) c.625-8C>T (n.625-8C>T) | |
X | g.108577947C= | CA2450682163 | COL4A5 | c.610-5C= (n.610-5C=) c.286-5C= (n.286-5C=) c.625-5C= (n.625-5C=) | |
X | g.108577947C>T | CA10488527 | COL4A5 | c.610-5C>T (n.610-5C>T) c.286-5C>T (n.286-5C>T) c.625-5C>T (n.625-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108577949T>C | CA643749902 | COL4A5 | c.610-3T>C (n.610-3T>C) c.286-3T>C (n.286-3T>C) c.625-3T>C (n.625-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108577949T= | CA2450682165 | COL4A5 | c.610-3T= (n.610-3T=) c.286-3T= (n.286-3T=) c.625-3T= (n.625-3T=) | |
X | g.108577949_108577968delinsTAGGGCCCTCCTGGTCCACC | CA2450682164 | COL4A5 | c.610-3_626delinsTAGGGCCCTCCTGGTCCACC c.286-3_302delinsTAGGGCCCTCCTGGTCCACC c.625-3_641delinsTAGGGCCCTCCTGGTCCACC | |
X | g.108577950del | CA2579675930 | COL4A5 | c.610-2del (n.610-2del) c.286-2del (n.286-2del) c.625-2del (n.625-2del) | |
X | g.108577950A= | CA2450682166 | COL4A5 | c.610-2A= (n.610-2A=) c.286-2A= (n.286-2A=) c.625-2A= (n.625-2A=) | |
X | g.108577950A>C | CA413922907 | COL4A5 | c.610-2A>C (n.610-2A>C) c.286-2A>C (n.286-2A>C) c.625-2A>C (n.625-2A>C) | |
X | g.108577950A>G | CA258287 | COL4A5 | c.610-2A>G (n.610-2A>G) c.286-2A>G (n.286-2A>G) c.625-2A>G (n.625-2A>G) | dbSNP gnomAD v4 |
X | g.108577950A>T | CA413922909 | COL4A5 | c.610-2A>T (n.610-2A>T) c.286-2A>T (n.286-2A>T) c.625-2A>T (n.625-2A>T) | |
X | g.108577953_108577971del | CA258288 | COL4A5 | c.611_629del c.287_305del c.626_644del | dbSNP |
X | g.108577951G>A | CA413922921 | COL4A5 | c.610-1G>A (n.610-1G>A) c.286-1G>A (n.286-1G>A) c.625-1G>A (n.625-1G>A) | |
X | g.108577951G>C | CA413922926 | COL4A5 | c.610-1G>C (n.610-1G>C) c.286-1G>C (n.286-1G>C) c.625-1G>C (n.625-1G>C) | |
X | g.108577951G>T | CA413922941 | COL4A5 | c.610-1G>T (n.610-1G>T) c.286-1G>T (n.286-1G>T) c.625-1G>T (n.625-1G>T) | gnomAD v4 |
X | g.108577952G>A | CA413922945 | COL4A5 | c.610G>A (p.Gly204Ser) c.286G>A (p.Gly96Ser) c.625G>A (p.Gly209Ser) | |
X | g.108577952G>C | CA413922947 | COL4A5 | c.610G>C (p.Gly204Arg) c.286G>C (p.Gly96Arg) c.625G>C (p.Gly209Arg) | |
X | g.108577952G>T | CA413922946 | COL4A5 | c.610G>T (p.Gly204Cys) c.286G>T (p.Gly96Cys) c.625G>T (p.Gly209Cys) | |
X | g.108577952_108577954delinsGGC | CA2450682167 | COL4A5 | c.610_612delinsGGC (p.Gly204=) c.286_288delinsGGC (p.Gly96=) c.625_627delinsGGC (p.Gly209=) | |
X | g.108577953G>A | CA258289 | COL4A5 | c.611G>A (p.Gly204Asp) c.287G>A (p.Gly96Asp) c.626G>A (p.Gly209Asp) | ClinVar dbSNP |
X | g.108577953G>C | CA413922952 | COL4A5 | c.611G>C (p.Gly204Ala) c.287G>C (p.Gly96Ala) c.626G>C (p.Gly209Ala) | |
X | g.108577953G= | CA2450682168 | COL4A5 | c.611G= (p.Gly204=) c.287G= (p.Gly96=) c.626G= (p.Gly209=) | |
X | g.108577953G>T | CA258292 | COL4A5 | c.611G>T (p.Gly204Val) c.287G>T (p.Gly96Val) c.626G>T (p.Gly209Val) | dbSNP |
X | g.108577953_108577954del | CA258294 | COL4A5 | c.611_612del (p.Gly204AlafsTer11) c.287_288del (p.Gly96AlafsTer11) c.626_627del (p.Gly209AlafsTer11) | ClinVar dbSNP |
X | g.108577954C>A | CA517991713 | COL4A5 | c.612C>A (p.Gly204=) c.288C>A (p.Gly96=) c.627C>A (p.Gly209=) | gnomAD v4 |
X | g.108577954C>G | CA517991714 | COL4A5 | c.612C>G (p.Gly204=) c.288C>G (p.Gly96=) c.627C>G (p.Gly209=) | |
X | g.108577954C>T | CA517991715 | COL4A5 | c.612C>T (p.Gly204=) c.288C>T (p.Gly96=) c.627C>T (p.Gly209=) | ClinVar dbSNP |
X | g.108577955C>A | CA413922967 | COL4A5 | c.613C>A (p.Pro205Thr) c.289C>A (p.Pro97Thr) c.628C>A (p.Pro210Thr) | gnomAD v4 |
X | g.108577955C= | CA2450682169 | COL4A5 | c.613C= (p.Pro205=) c.289C= (p.Pro97=) c.628C= (p.Pro210=) | |
X | g.108577955C>G | CA413922970 | COL4A5 | c.613C>G (p.Pro205Ala) c.289C>G (p.Pro97Ala) c.628C>G (p.Pro210Ala) | |
X | g.108577955C>T | CA413922974 | COL4A5 | c.613C>T (p.Pro205Ser) c.289C>T (p.Pro97Ser) c.628C>T (p.Pro210Ser) | dbSNP gnomAD v4 |
X | g.108577956C>A | CA413922978 | COL4A5 | c.614C>A (p.Pro205His) c.290C>A (p.Pro97His) c.629C>A (p.Pro210His) | gnomAD v4 |
X | g.108577956C= | CA2450682170 | COL4A5 | c.614C= (p.Pro205=) c.290C= (p.Pro97=) c.629C= (p.Pro210=) | |
X | g.108577956C>G | CA413922979 | COL4A5 | c.614C>G (p.Pro205Arg) c.290C>G (p.Pro97Arg) c.629C>G (p.Pro210Arg) | dbSNP |
X | g.108577956C>T | CA413922980 | COL4A5 | c.614C>T (p.Pro205Leu) c.290C>T (p.Pro97Leu) c.629C>T (p.Pro210Leu) | gnomAD v4 |
X | g.108577957T>A | CA517991716 | COL4A5 | c.615T>A (p.Pro205=) c.291T>A (p.Pro97=) c.630T>A (p.Pro210=) | |
X | g.108577957T>C | CA517991718 | COL4A5 | c.615T>C (p.Pro205=) c.291T>C (p.Pro97=) c.630T>C (p.Pro210=) | gnomAD v4 |
X | g.108577957T>G | CA517991717 | COL4A5 | c.615T>G (p.Pro205=) c.291T>G (p.Pro97=) c.630T>G (p.Pro210=) | gnomAD v4 |
X | g.108577958C>A | CA413922985 | COL4A5 | c.616C>A (p.Pro206Thr) c.292C>A (p.Pro98Thr) c.631C>A (p.Pro211Thr) | |
X | g.108577958C>G | CA413922987 | COL4A5 | c.616C>G (p.Pro206Ala) c.292C>G (p.Pro98Ala) c.631C>G (p.Pro211Ala) | |
X | g.108577958C>T | CA413922982 | COL4A5 | c.616C>T (p.Pro206Ser) c.292C>T (p.Pro98Ser) c.631C>T (p.Pro211Ser) | |
X | g.108577959C>A | CA413922994 | COL4A5 | c.617C>A (p.Pro206His) c.293C>A (p.Pro98His) c.632C>A (p.Pro211His) | |
X | g.108577959C>G | CA413923005 | COL4A5 | c.617C>G (p.Pro206Arg) c.293C>G (p.Pro98Arg) c.632C>G (p.Pro211Arg) | |
X | g.108577959C>T | CA413923002 | COL4A5 | c.617C>T (p.Pro206Leu) c.293C>T (p.Pro98Leu) c.632C>T (p.Pro211Leu) | |
X | g.108577960T>A | CA517991719 | COL4A5 | c.618T>A (p.Pro206=) c.294T>A (p.Pro98=) c.633T>A (p.Pro211=) | |
X | g.108577960T>C | CA517991720 | COL4A5 | c.618T>C (p.Pro206=) c.294T>C (p.Pro98=) c.633T>C (p.Pro211=) | ClinVar |
X | g.108577960T>G | CA517991721 | COL4A5 | c.618T>G (p.Pro206=) c.294T>G (p.Pro98=) c.633T>G (p.Pro211=) | |
X | g.108577961G>A | CA413923010 | COL4A5 | c.619G>A (p.Gly207Ser) c.295G>A (p.Gly99Ser) c.634G>A (p.Gly212Ser) | ClinVar dbSNP |
X | g.108577961G>C | CA413923015 | COL4A5 | c.619G>C (p.Gly207Arg) c.295G>C (p.Gly99Arg) c.634G>C (p.Gly212Arg) | ClinVar dbSNP |
X | g.108577961G= | CA2450682171 | COL4A5 | c.619G= (p.Gly207=) c.295G= (p.Gly99=) c.634G= (p.Gly212=) | |
X | g.108577961G>T | CA413923012 | COL4A5 | c.619G>T (p.Gly207Cys) c.295G>T (p.Gly99Cys) c.634G>T (p.Gly212Cys) | |
X | g.108577962del | CA2579675931 | COL4A5 | c.620del (p.Gly207ValfsTer14) c.296del (p.Gly99ValfsTer14) c.635del (p.Gly212ValfsTer14) | gnomAD v4 |
X | g.108577962G>A | CA413923023 | COL4A5 | c.620G>A (p.Gly207Asp) c.296G>A (p.Gly99Asp) c.635G>A (p.Gly212Asp) | gnomAD v4 |
X | g.108577962G>C | CA413923033 | COL4A5 | c.620G>C (p.Gly207Ala) c.296G>C (p.Gly99Ala) c.635G>C (p.Gly212Ala) | |
X | g.108577962G>T | CA413923036 | COL4A5 | c.620G>T (p.Gly207Val) c.296G>T (p.Gly99Val) c.635G>T (p.Gly212Val) | ClinVar gnomAD v4 |
X | g.108577963T>A | CA517991722 | COL4A5 | c.621T>A (p.Gly207=) c.297T>A (p.Gly99=) c.636T>A (p.Gly212=) | |
X | g.108577963T>C | CA517991723 | COL4A5 | c.621T>C (p.Gly207=) c.297T>C (p.Gly99=) c.636T>C (p.Gly212=) | |
X | g.108577963T>G | CA517991724 | COL4A5 | c.621T>G (p.Gly207=) c.297T>G (p.Gly99=) c.636T>G (p.Gly212=) | |
X | g.108577964C>A | CA413923039 | COL4A5 | c.622C>A (p.Pro208Thr) c.298C>A (p.Pro100Thr) c.637C>A (p.Pro213Thr) | |
X | g.108577964C= | CA2450682172 | COL4A5 | c.622C= (p.Pro208=) c.298C= (p.Pro100=) c.637C= (p.Pro213=) | |
X | g.108577964C>G | CA413923044 | COL4A5 | c.622C>G (p.Pro208Ala) c.298C>G (p.Pro100Ala) c.637C>G (p.Pro213Ala) | |
X | g.108577964C>T | CA413923053 | COL4A5 | c.622C>T (p.Pro208Ser) c.298C>T (p.Pro100Ser) c.637C>T (p.Pro213Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108577965C>A | CA413923056 | COL4A5 | c.623C>A (p.Pro208Gln) c.299C>A (p.Pro100Gln) c.638C>A (p.Pro213Gln) | |
X | g.108577965C= | CA2450682173 | COL4A5 | c.623C= (p.Pro208=) c.299C= (p.Pro100=) c.638C= (p.Pro213=) | |
X | g.108577965C>G | CA413923057 | COL4A5 | c.623C>G (p.Pro208Arg) c.299C>G (p.Pro100Arg) c.638C>G (p.Pro213Arg) | |
X | g.108577965C>T | CA413923059 | COL4A5 | c.623C>T (p.Pro208Leu) c.299C>T (p.Pro100Leu) c.638C>T (p.Pro213Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108577966A>C | CA517991725 | COL4A5 | c.624A>C (p.Pro208=) c.300A>C (p.Pro100=) c.639A>C (p.Pro213=) | |
X | g.108577966A>G | CA517991726 | COL4A5 | c.624A>G (p.Pro208=) c.300A>G (p.Pro100=) c.639A>G (p.Pro213=) | |
X | g.108577966A>T | CA517991727 | COL4A5 | c.624A>T (p.Pro208=) c.300A>T (p.Pro100=) c.639A>T (p.Pro213=) | |
X | g.108577967C>A | CA413923062 | COL4A5 | c.625C>A (p.Pro209Thr) c.301C>A (p.Pro101Thr) c.640C>A (p.Pro214Thr) | dbSNP |
X | g.108577967C= | CA2450682174 | COL4A5 | c.625C= (p.Pro209=) c.301C= (p.Pro101=) c.640C= (p.Pro214=) | |
X | g.108577967C>G | CA413923063 | COL4A5 | c.625C>G (p.Pro209Ala) c.301C>G (p.Pro101Ala) c.640C>G (p.Pro214Ala) | dbSNP |
X | g.108577967C>T | CA413923067 | COL4A5 | c.625C>T (p.Pro209Ser) c.301C>T (p.Pro101Ser) c.640C>T (p.Pro214Ser) | |
X | g.108577968C>A | CA413923083 | COL4A5 | c.626C>A (p.Pro209Gln) c.302C>A (p.Pro101Gln) c.641C>A (p.Pro214Gln) | |
X | g.108577968C>G | CA413923097 | COL4A5 | c.626C>G (p.Pro209Arg) c.302C>G (p.Pro101Arg) c.641C>G (p.Pro214Arg) | |
X | g.108577968C>T | CA413923093 | COL4A5 | c.626C>T (p.Pro209Leu) c.302C>T (p.Pro101Leu) c.641C>T (p.Pro214Leu) | gnomAD v4 |
X | g.108577969A>C | CA517991728 | COL4A5 | c.627A>C (p.Pro209=) c.303A>C (p.Pro101=) c.642A>C (p.Pro214=) | |
X | g.108577969A>G | CA517991729 | COL4A5 | c.627A>G (p.Pro209=) c.303A>G (p.Pro101=) c.642A>G (p.Pro214=) | gnomAD v4 |
X | g.108577969A>T | CA517991730 | COL4A5 | c.627A>T (p.Pro209=) c.303A>T (p.Pro101=) c.642A>T (p.Pro214=) | |
X | g.108577970G>A | CA413923113 | COL4A5 | c.628G>A (p.Gly210Arg) c.304G>A (p.Gly102Arg) c.643G>A (p.Gly215Arg) | |
X | g.108577970G>C | CA413923116 | COL4A5 | c.628G>C (p.Gly210Arg) c.304G>C (p.Gly102Arg) c.643G>C (p.Gly215Arg) | |
X | g.108577970G>T | CA413923119 | COL4A5 | c.628G>T (p.Gly210Ter) c.304G>T (p.Gly102Ter) c.643G>T (p.Gly215Ter) | COSMIC COSMIC |
X | g.108577971G>A | CA413923124 | COL4A5 | c.629G>A (p.Gly210Glu) c.305G>A (p.Gly102Glu) c.644G>A (p.Gly215Glu) | ClinVar dbSNP |
X | g.108577971G>C | CA413923128 | COL4A5 | c.629G>C (p.Gly210Ala) c.305G>C (p.Gly102Ala) c.644G>C (p.Gly215Ala) | |
X | g.108577971G>T | CA413923138 | COL4A5 | c.629G>T (p.Gly210Val) c.305G>T (p.Gly102Val) c.644G>T (p.Gly215Val) | |
X | g.108577972A>C | CA517991731 | COL4A5 | c.630A>C (p.Gly210=) c.306A>C (p.Gly102=) c.645A>C (p.Gly215=) | |
X | g.108577972A>G | CA517991732 | COL4A5 | c.630A>G (p.Gly210=) c.306A>G (p.Gly102=) c.645A>G (p.Gly215=) | |
X | g.108577972A>T | CA517991733 | COL4A5 | c.630A>T (p.Gly210=) c.306A>T (p.Gly102=) c.645A>T (p.Gly215=) | |
X | g.108577973C>A | CA413923157 | COL4A5 | c.631C>A (p.Leu211Ile) c.307C>A (p.Leu103Ile) c.646C>A (p.Leu216Ile) | |
X | g.108577973C>G | CA413923172 | COL4A5 | c.631C>G (p.Leu211Val) c.307C>G (p.Leu103Val) c.646C>G (p.Leu216Val) | |
X | g.108577973C>T | CA413923174 | COL4A5 | c.631C>T (p.Leu211Phe) c.307C>T (p.Leu103Phe) c.646C>T (p.Leu216Phe) | |
X | g.108577974T>A | CA413923186 | COL4A5 | c.632T>A (p.Leu211His) c.308T>A (p.Leu103His) c.647T>A (p.Leu216His) | |
X | g.108577974T>C | CA413923189 | COL4A5 | c.632T>C (p.Leu211Pro) c.308T>C (p.Leu103Pro) c.647T>C (p.Leu216Pro) | gnomAD v4 |
X | g.108577974T>G | CA413923182 | COL4A5 | c.632T>G (p.Leu211Arg) c.308T>G (p.Leu103Arg) c.647T>G (p.Leu216Arg) | |
X | g.108577975T>A | CA517991734 | COL4A5 | c.633T>A (p.Leu211=) c.309T>A (p.Leu103=) c.648T>A (p.Leu216=) | |
X | g.108577975T>C | CA517991735 | COL4A5 | c.633T>C (p.Leu211=) c.309T>C (p.Leu103=) c.648T>C (p.Leu216=) | |
X | g.108577975T>G | CA517991736 | COL4A5 | c.633T>G (p.Leu211=) c.309T>G (p.Leu103=) c.648T>G (p.Leu216=) | |
X | g.108577975_108577976delinsTC | CA2450682175 | COL4A5 | c.633_634delinsTC (p.Leu211=) c.309_310delinsTC (p.Leu103=) c.648_649delinsTC (p.Leu216=) | |
X | g.108577976C>A | CA413923195 | COL4A5 | c.634C>A (p.Pro212Thr) c.310C>A (p.Pro104Thr) c.649C>A (p.Pro217Thr) | |
X | g.108577976C>G | CA413923202 | COL4A5 | c.634C>G (p.Pro212Ala) c.310C>G (p.Pro104Ala) c.649C>G (p.Pro217Ala) | |
X | g.108577976C>T | CA413923207 | COL4A5 | c.634C>T (p.Pro212Ser) c.310C>T (p.Pro104Ser) c.649C>T (p.Pro217Ser) | |
X | g.108577977del | CA258295 | COL4A5 | c.635del (p.Pro212GlnfsTer9) c.311del (p.Pro104GlnfsTer9) c.650del (p.Pro217GlnfsTer9) | ClinVar dbSNP |
X | g.108577976_108577978del | CA2695235186 | COL4A5 | c.634_636del (p.Pro212del) c.310_312del (p.Pro104del) c.649_651del (p.Pro217del) | |
X | g.108577977C>A | CA413923215 | COL4A5 | c.635C>A (p.Pro212Gln) c.311C>A (p.Pro104Gln) c.650C>A (p.Pro217Gln) | |
X | g.108577977C>G | CA413923210 | COL4A5 | c.635C>G (p.Pro212Arg) c.311C>G (p.Pro104Arg) c.650C>G (p.Pro217Arg) | |
X | g.108577977C>T | CA413923209 | COL4A5 | c.635C>T (p.Pro212Leu) c.311C>T (p.Pro104Leu) c.650C>T (p.Pro217Leu) | |
X | g.108577978A>C | CA517991737 | COL4A5 | c.636A>C (p.Pro212=) c.312A>C (p.Pro104=) c.651A>C (p.Pro217=) | |
X | g.108577978A>G | CA517991739 | COL4A5 | c.636A>G (p.Pro212=) c.312A>G (p.Pro104=) c.651A>G (p.Pro217=) | |
X | g.108577978A>T | CA517991738 | COL4A5 | c.636A>T (p.Pro212=) c.312A>T (p.Pro104=) c.651A>T (p.Pro217=) | |
X | g.108577979G>A | CA334180201 | COL4A5 | c.637G>A (p.Gly213Arg) c.313G>A (p.Gly105Arg) c.652G>A (p.Gly218Arg) | dbSNP |
X | g.108577979G>C | CA413923223 | COL4A5 | c.637G>C (p.Gly213Arg) c.313G>C (p.Gly105Arg) c.652G>C (p.Gly218Arg) | ClinVar dbSNP |
X | g.108577979G= | CA2450682176 | COL4A5 | c.637G= (p.Gly213=) c.313G= (p.Gly105=) c.652G= (p.Gly218=) | |
X | g.108577979G>T | CA413923227 | COL4A5 | c.637G>T (p.Gly213Ter) c.313G>T (p.Gly105Ter) c.652G>T (p.Gly218Ter) | |
X | g.108577980G>A | CA258296 | COL4A5 | c.638G>A (p.Gly213Glu) c.314G>A (p.Gly105Glu) c.653G>A (p.Gly218Glu) | ClinVar dbSNP |
X | g.108577980G>C | CA413923234 | COL4A5 | c.638G>C (p.Gly213Ala) c.314G>C (p.Gly105Ala) c.653G>C (p.Gly218Ala) | |
X | g.108577980G= | CA2450682177 | COL4A5 | c.638G= (p.Gly213=) c.314G= (p.Gly105=) c.653G= (p.Gly218=) | |
X | g.108577980G>T | CA413923235 | COL4A5 | c.638G>T (p.Gly213Val) c.314G>T (p.Gly105Val) c.653G>T (p.Gly218Val) | ClinVar dbSNP |
X | g.108577981A>C | CA517991740 | COL4A5 | c.639A>C (p.Gly213=) c.315A>C (p.Gly105=) c.654A>C (p.Gly218=) | |
X | g.108577981A>G | CA517991741 | COL4A5 | c.639A>G (p.Gly213=) c.315A>G (p.Gly105=) c.654A>G (p.Gly218=) | ClinVar dbSNP gnomAD v4 |
X | g.108577981A>T | CA517991742 | COL4A5 | c.639A>T (p.Gly213=) c.315A>T (p.Gly105=) c.654A>T (p.Gly218=) | COSMIC COSMIC |
X | g.108577982C>A | CA413923241 | COL4A5 | c.640C>A (p.Pro214Thr) c.316C>A (p.Pro106Thr) c.655C>A (p.Pro219Thr) | |
X | g.108577982C>G | CA413923245 | COL4A5 | c.640C>G (p.Pro214Ala) c.316C>G (p.Pro106Ala) c.655C>G (p.Pro219Ala) | |
X | g.108577982C>T | CA413923243 | COL4A5 | c.640C>T (p.Pro214Ser) c.316C>T (p.Pro106Ser) c.655C>T (p.Pro219Ser) | |
X | g.108577983C>A | CA413923250 | COL4A5 | c.641C>A (p.Pro214His) c.317C>A (p.Pro106His) c.656C>A (p.Pro219His) | |
X | g.108577983C>G | CA413923252 | COL4A5 | c.641C>G (p.Pro214Arg) c.317C>G (p.Pro106Arg) c.656C>G (p.Pro219Arg) | |
X | g.108577983C>T | CA413923257 | COL4A5 | c.641C>T (p.Pro214Leu) c.317C>T (p.Pro106Leu) c.656C>T (p.Pro219Leu) | |
X | g.108577984T>A | CA517991743 | COL4A5 | c.642T>A (p.Pro214=) c.318T>A (p.Pro106=) c.657T>A (p.Pro219=) | |
X | g.108577984T>C | CA517991744 | COL4A5 | c.642T>C (p.Pro214=) c.318T>C (p.Pro106=) c.657T>C (p.Pro219=) | gnomAD v4 |
X | g.108577984T>G | CA517991745 | COL4A5 | c.642T>G (p.Pro214=) c.318T>G (p.Pro106=) c.657T>G (p.Pro219=) | |
X | g.108577985A>C | CA413923263 | COL4A5 | c.643A>C (p.Lys215Gln) c.319A>C (p.Lys107Gln) c.658A>C (p.Lys220Gln) | |
X | g.108577985A>G | CA413923273 | COL4A5 | c.643A>G (p.Lys215Glu) c.319A>G (p.Lys107Glu) c.658A>G (p.Lys220Glu) | |
X | g.108577985A>T | CA413923277 | COL4A5 | c.643A>T (p.Lys215Ter) c.319A>T (p.Lys107Ter) c.658A>T (p.Lys220Ter) | ClinVar |
X | g.108577986A>C | CA413923278 | COL4A5 | c.644A>C (p.Lys215Thr) c.320A>C (p.Lys107Thr) c.659A>C (p.Lys220Thr) | |
X | g.108577986A>G | CA413923283 | COL4A5 | c.644A>G (p.Lys215Arg) c.320A>G (p.Lys107Arg) c.659A>G (p.Lys220Arg) | |
X | g.108577986A>T | CA413923286 | COL4A5 | c.644A>T (p.Lys215Met) c.320A>T (p.Lys107Met) c.659A>T (p.Lys220Met) | |
X | g.108577987G>A | CA10488528 | COL4A5 | c.645G>A (p.Lys215=) c.321G>A (p.Lys107=) c.660G>A (p.Lys220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108577987G>C | CA413923289 | COL4A5 | c.645G>C (p.Lys215Asn) c.321G>C (p.Lys107Asn) c.660G>C (p.Lys220Asn) | |
X | g.108577987G= | CA2450682178 | COL4A5 | c.645G= (p.Lys215=) c.321G= (p.Lys107=) c.660G= (p.Lys220=) | |
X | g.108577987G>T | CA413923290 | COL4A5 | c.645G>T (p.Lys215Asn) c.321G>T (p.Lys107Asn) c.660G>T (p.Lys220Asn) | |
X | g.108577988G>A | CA413923306 | COL4A5 | c.645+1G>A (n.645+1G>A) c.321+1G>A (n.321+1G>A) c.660+1G>A (n.660+1G>A) | gnomAD v4 |
X | g.108577988G>C | CA413923296 | COL4A5 | c.645+1G>C (n.645+1G>C) c.321+1G>C (n.321+1G>C) c.660+1G>C (n.660+1G>C) | |
X | g.108577988G= | CA2450682179 | COL4A5 | c.645+1G= (n.645+1G=) c.321+1G= (n.321+1G=) c.660+1G= (n.660+1G=) | |
X | g.108577988G>T | CA413923292 | COL4A5 | c.645+1G>T (n.645+1G>T) c.321+1G>T (n.321+1G>T) c.660+1G>T (n.660+1G>T) | ClinVar dbSNP |
X | g.108577990_108578023del | CA2580100181 | COL4A5 | c.645+3_645+36del (n.645+3_645+36del) c.321+3_321+36del (n.321+3_321+36del) c.660+3_660+36del (n.660+3_660+36del) | ClinVar |
X | g.108577989T>A | CA413923331 | COL4A5 | c.645+2T>A (n.645+2T>A) c.321+2T>A (n.321+2T>A) c.660+2T>A (n.660+2T>A) | |
X | g.108577989T>C | CA413923312 | COL4A5 | c.645+2T>C (n.645+2T>C) c.321+2T>C (n.321+2T>C) c.660+2T>C (n.660+2T>C) | ClinVar dbSNP gnomAD v4 |
X | g.108577989T>G | CA413923325 | COL4A5 | c.645+2T>G (n.645+2T>G) c.321+2T>G (n.321+2T>G) c.660+2T>G (n.660+2T>G) | |
X | g.108577989T= | CA2450682180 | COL4A5 | c.645+2T= (n.645+2T=) c.321+2T= (n.321+2T=) c.660+2T= (n.660+2T=) | |
X | g.108577991A= | CA2450682181 | COL4A5 | c.645+4A= (n.645+4A=) c.321+4A= (n.321+4A=) c.660+4A= (n.660+4A=) | |
X | g.108577991A>G | CA1136179033 | COL4A5 | c.645+4A>G (n.645+4A>G) c.321+4A>G (n.321+4A>G) c.660+4A>G (n.660+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108577995del | CA2694412041 | COL4A5 | c.645+8del (n.645+8del) c.321+8del (n.321+8del) c.660+8del (n.660+8del) | gnomAD v4 |
X | g.108577993T>G | CA2694412042 | COL4A5 | c.645+6T>G (n.645+6T>G) c.321+6T>G (n.321+6T>G) c.660+6T>G (n.660+6T>G) | gnomAD v4 |
X | g.108577997T>C | CA2694412045 | COL4A5 | c.645+10T>C (n.645+10T>C) c.321+10T>C (n.321+10T>C) c.660+10T>C (n.660+10T>C) | gnomAD v4 |
X | g.108578001del | CA2694412044 | COL4A5 | c.645+14del (n.645+14del) c.321+14del (n.321+14del) c.660+14del (n.660+14del) | gnomAD v4 |
X | g.108578000T>A | CA10488529 | COL4A5 | c.645+13T>A (n.645+13T>A) c.321+13T>A (n.321+13T>A) c.660+13T>A (n.660+13T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578000T= | CA2450682182 | COL4A5 | c.645+13T= (n.645+13T=) c.321+13T= (n.321+13T=) c.660+13T= (n.660+13T=) | |
X | g.108578003T>C | CA2697544682 | COL4A5 | c.645+16T>C (n.645+16T>C) c.321+16T>C (n.321+16T>C) c.660+16T>C (n.660+16T>C) | ClinVar |
X | g.108578004T>C | CA334180206 | COL4A5 | c.645+17T>C (n.645+17T>C) c.321+17T>C (n.321+17T>C) c.660+17T>C (n.660+17T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578004T>G | CA2694412047 | COL4A5 | c.645+17T>G (n.645+17T>G) c.321+17T>G (n.321+17T>G) c.660+17T>G (n.660+17T>G) | gnomAD v4 |
X | g.108578004T= | CA2450682183 | COL4A5 | c.645+17T= (n.645+17T=) c.321+17T= (n.321+17T=) c.660+17T= (n.660+17T=) | |
X | g.108578005T>C | CA2450682185 | COL4A5 | c.645+18T>C (n.645+18T>C) c.321+18T>C (n.321+18T>C) c.660+18T>C (n.660+18T>C) | dbSNP gnomAD v4 |
X | g.108578005T= | CA2450682184 | COL4A5 | c.645+18T= (n.645+18T=) c.321+18T= (n.321+18T=) c.660+18T= (n.660+18T=) | |
X | g.108578006A= | CA2450682186 | COL4A5 | c.645+19A= (n.645+19A=) c.321+19A= (n.321+19A=) c.660+19A= (n.660+19A=) | |
X | g.108578006A>G | CA10488530 | COL4A5 | c.645+19A>G (n.645+19A>G) c.321+19A>G (n.321+19A>G) c.660+19A>G (n.660+19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578007T>C | CA2579675932 | COL4A5 | c.645+20T>C (n.645+20T>C) c.321+20T>C (n.321+20T>C) c.660+20T>C (n.660+20T>C) | |
X | g.108578008A= | CA2450682187 | COL4A5 | c.645+21A= (n.645+21A=) c.321+21A= (n.321+21A=) c.660+21A= (n.660+21A=) | |
X | g.108578008A>G | CA2450682188 | COL4A5 | c.645+21A>G (n.645+21A>G) c.321+21A>G (n.321+21A>G) c.660+21A>G (n.660+21A>G) | dbSNP gnomAD v4 |
X | g.108578009T>A | CA2694412053 | COL4A5 | c.645+22T>A (n.645+22T>A) c.321+22T>A (n.321+22T>A) c.660+22T>A (n.660+22T>A) | gnomAD v4 |
X | g.108578010C= | CA2450682189 | COL4A5 | c.645+23C= (n.645+23C=) c.321+23C= (n.321+23C=) c.660+23C= (n.660+23C=) | |
X | g.108578010C>T | CA1136179034 | COL4A5 | c.645+23C>T (n.645+23C>T) c.321+23C>T (n.321+23C>T) c.660+23C>T (n.660+23C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578014del | CA2579675933 | COL4A5 | c.645+27del (n.645+27del) c.321+27del (n.321+27del) c.660+27del (n.660+27del) | |
X | g.108578012T>C | CA1136179035 | COL4A5 | c.645+25T>C (n.645+25T>C) c.321+25T>C (n.321+25T>C) c.660+25T>C (n.660+25T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108578012T= | CA2450682190 | COL4A5 | c.645+25T= (n.645+25T=) c.321+25T= (n.321+25T=) c.660+25T= (n.660+25T=) | |
X | g.108578015A= | CA2450682191 | COL4A5 | c.645+28A= (n.645+28A=) c.321+28A= (n.321+28A=) c.660+28A= (n.660+28A=) | |
X | g.108578015A>T | CA10488531 | COL4A5 | c.645+28A>T (n.645+28A>T) c.321+28A>T (n.321+28A>T) c.660+28A>T (n.660+28A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108578019G>A | CA2738910245 | COL4A5 | c.645+32G>A (n.645+32G>A) c.321+32G>A (n.321+32G>A) c.660+32G>A (n.660+32G>A) | dbSNP |
X | g.108578020G>A | CA10488532 | COL4A5 | c.645+33G>A (n.645+33G>A) c.321+33G>A (n.321+33G>A) c.660+33G>A (n.660+33G>A) | dbSNP ExAC gnomAD v2 |
X | g.108578020G= | CA2450682192 | COL4A5 | c.645+33G= (n.645+33G=) c.321+33G= (n.321+33G=) c.660+33G= (n.660+33G=) | |
X | g.108578021T>C | CA2741783352 | COL4A5 | c.645+34T>C (n.645+34T>C) c.321+34T>C (n.321+34T>C) c.660+34T>C (n.660+34T>C) | |
X | g.108578022G>A | CA643749906 | COL4A5 | c.645+35G>A (n.645+35G>A) c.321+35G>A (n.321+35G>A) c.660+35G>A (n.660+35G>A) | dbSNP gnomAD v2 |
X | g.108578022G= | CA2450682193 | COL4A5 | c.645+35G= (n.645+35G=) c.321+35G= (n.321+35G=) c.660+35G= (n.660+35G=) | |
X | g.108578024G>A | CA10488533 | COL4A5 | c.645+37G>A (n.645+37G>A) c.321+37G>A (n.321+37G>A) c.660+37G>A (n.660+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578024G= | CA2450682194 | COL4A5 | c.645+37G= (n.645+37G=) c.321+37G= (n.321+37G=) c.660+37G= (n.660+37G=) | |
X | g.108578025G= | CA2450682195 | COL4A5 | c.645+38G= (n.645+38G=) c.321+38G= (n.321+38G=) c.660+38G= (n.660+38G=) | |
X | g.108578025G>T | CA643749908 | COL4A5 | c.645+38G>T (n.645+38G>T) c.321+38G>T (n.321+38G>T) c.660+38G>T (n.660+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108578026A= | CA2450682196 | COL4A5 | c.645+39A= (n.645+39A=) c.321+39A= (n.321+39A=) c.660+39A= (n.660+39A=) | |
X | g.108578026A>T | CA643749909 | COL4A5 | c.645+39A>T (n.645+39A>T) c.321+39A>T (n.321+39A>T) c.660+39A>T (n.660+39A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108578030C>T | CA658421368 | COL4A5 | c.645+43C>T (n.645+43C>T) c.321+43C>T (n.321+43C>T) c.660+43C>T (n.660+43C>T) | gnomAD v4 COSMIC |