| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108584494G>A | CA413928933 | COL4A5 | c.1001G>A (p.Gly334Asp) n.457G>A c.677G>A (p.Gly226Asp) c.1016G>A (p.Gly339Asp) c.-709G>A (n.-709G>A) | ClinVar dbSNP |
| X | g.108584494G>C | CA413928937 | COL4A5 | c.1001G>C (p.Gly334Ala) n.457G>C c.677G>C (p.Gly226Ala) c.1016G>C (p.Gly339Ala) c.-709G>C (n.-709G>C) | |
| X | g.108584494G= | CA2450684344 | COL4A5 | c.1001G= (p.Gly334=) n.457G= c.677G= (p.Gly226=) c.1016G= (p.Gly339=) c.-709G= (n.-709G=) | |
| X | g.108584494G>T | CA258385 | COL4A5 | c.1001G>T (p.Gly334Val) n.457G>T c.677G>T (p.Gly226Val) c.1016G>T (p.Gly339Val) c.-709G>T (n.-709G>T) | ClinVar dbSNP |
| X | g.108584495T>A | CA517991992 | COL4A5 | c.1002T>A (p.Gly334=) n.458T>A c.678T>A (p.Gly226=) c.1017T>A (p.Gly339=) c.-708T>A (n.-708T>A) | |
| X | g.108584495T>C | CA517991993 | COL4A5 | c.1002T>C (p.Gly334=) n.458T>C c.678T>C (p.Gly226=) c.1017T>C (p.Gly339=) c.-708T>C (n.-708T>C) | |
| X | g.108584495T>G | CA517991994 | COL4A5 | c.1002T>G (p.Gly334=) n.458T>G c.678T>G (p.Gly226=) c.1017T>G (p.Gly339=) c.-708T>G (n.-708T>G) | |
| X | g.108584496G>A | CA413928939 | COL4A5 | c.1003G>A (p.Asp335Asn) n.459G>A c.679G>A (p.Asp227Asn) c.1018G>A (p.Asp340Asn) c.-707G>A (n.-707G>A) | gnomAD v4 |
| X | g.108584496G>C | CA413928941 | COL4A5 | c.1003G>C (p.Asp335His) n.459G>C c.679G>C (p.Asp227His) c.1018G>C (p.Asp340His) c.-707G>C (n.-707G>C) | |
| X | g.108584496G>T | CA413928944 | COL4A5 | c.1003G>T (p.Asp335Tyr) n.459G>T c.679G>T (p.Asp227Tyr) c.1018G>T (p.Asp340Tyr) c.-707G>T (n.-707G>T) | |
| X | g.108584497A= | CA2450684345 | COL4A5 | c.1004A= (p.Asp335=) n.460A= c.680A= (p.Asp227=) c.1019A= (p.Asp340=) c.-706A= (n.-706A=) | |
| X | g.108584497A>C | CA10488644 | COL4A5 | c.1004A>C (p.Asp335Ala) n.460A>C c.680A>C (p.Asp227Ala) c.1019A>C (p.Asp340Ala) c.-706A>C (n.-706A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108584497A>G | CA413928950 | COL4A5 | c.1004A>G (p.Asp335Gly) n.460A>G c.680A>G (p.Asp227Gly) c.1019A>G (p.Asp340Gly) c.-706A>G (n.-706A>G) | |
| X | g.108584497A>T | CA413928953 | COL4A5 | c.1004A>T (p.Asp335Val) n.460A>T c.680A>T (p.Asp227Val) c.1019A>T (p.Asp340Val) c.-706A>T (n.-706A>T) | |
| X | g.108584499_108584500insAACA | CA2697544710 | COL4A5 | c.1006_1007insAACA (p.Thr336LysfsTer14) n.462_463insAACA c.682_683insAACA (p.Thr228LysfsTer14) c.1021_1022insAACA (p.Thr341LysfsTer14) c.-704_-703insAACA (n.-704_-703insAACA) | ClinVar |
| X | g.108584498C>A | CA413928956 | COL4A5 | c.1005C>A (p.Asp335Glu) n.461C>A c.681C>A (p.Asp227Glu) c.1020C>A (p.Asp340Glu) c.-705C>A (n.-705C>A) | dbSNP gnomAD v4 |
| X | g.108584498C= | CA2450684346 | COL4A5 | c.1005C= (p.Asp335=) n.461C= c.681C= (p.Asp227=) c.1020C= (p.Asp340=) c.-705C= (n.-705C=) | |
| X | g.108584498C>G | CA413928955 | COL4A5 | c.1005C>G (p.Asp335Glu) n.461C>G c.681C>G (p.Asp227Glu) c.1020C>G (p.Asp340Glu) c.-705C>G (n.-705C>G) | |
| X | g.108584498C>T | CA517991995 | COL4A5 | c.1005C>T (p.Asp335=) n.461C>T c.681C>T (p.Asp227=) c.1020C>T (p.Asp340=) c.-705C>T (n.-705C>T) | ClinVar dbSNP |
| X | g.108584499A= | CA2450684347 | COL4A5 | c.1006A= (p.Thr336=) n.462A= c.682A= (p.Thr228=) c.1021A= (p.Thr341=) c.-704A= (n.-704A=) | |
| X | g.108584499A>C | CA413928957 | COL4A5 | c.1006A>C (p.Thr336Pro) n.462A>C c.682A>C (p.Thr228Pro) c.1021A>C (p.Thr341Pro) c.-704A>C (n.-704A>C) | |
| X | g.108584499A>G | CA413928959 | COL4A5 | c.1006A>G (p.Thr336Ala) n.462A>G c.682A>G (p.Thr228Ala) c.1021A>G (p.Thr341Ala) c.-704A>G (n.-704A>G) | |
| X | g.108584499A>T | CA10488645 | COL4A5 | c.1006A>T (p.Thr336Ser) n.462A>T c.682A>T (p.Thr228Ser) c.1021A>T (p.Thr341Ser) c.-704A>T (n.-704A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108584500C>A | CA413928962 | COL4A5 | c.1007C>A (p.Thr336Asn) n.463C>A c.683C>A (p.Thr228Asn) c.1022C>A (p.Thr341Asn) c.-703C>A (n.-703C>A) | gnomAD v4 |
| X | g.108584500C>G | CA413928968 | COL4A5 | c.1007C>G (p.Thr336Ser) n.463C>G c.683C>G (p.Thr228Ser) c.1022C>G (p.Thr341Ser) c.-703C>G (n.-703C>G) | gnomAD v4 |
| X | g.108584500C>T | CA413928971 | COL4A5 | c.1007C>T (p.Thr336Ile) n.463C>T c.683C>T (p.Thr228Ile) c.1022C>T (p.Thr341Ile) c.-703C>T (n.-703C>T) | |
| X | g.108584501T>A | CA517991996 | COL4A5 | c.1008T>A (p.Thr336=) n.464T>A c.684T>A (p.Thr228=) c.1023T>A (p.Thr341=) c.-702T>A (n.-702T>A) | gnomAD v4 |
| X | g.108584501T>C | CA517991997 | COL4A5 | c.1008T>C (p.Thr336=) n.464T>C c.684T>C (p.Thr228=) c.1023T>C (p.Thr341=) c.-702T>C (n.-702T>C) | |
| X | g.108584501T>G | CA517991998 | COL4A5 | c.1008T>G (p.Thr336=) n.464T>G c.684T>G (p.Thr228=) c.1023T>G (p.Thr341=) c.-702T>G (n.-702T>G) | ClinVar dbSNP |
| X | g.108584501T= | CA2450684348 | COL4A5 | c.1008T= (p.Thr336=) n.464T= c.684T= (p.Thr228=) c.1023T= (p.Thr341=) c.-702T= (n.-702T=) | |
| X | g.108584502G>A | CA413928973 | COL4A5 | c.1009G>A (p.Gly337Ser) n.465G>A c.685G>A (p.Gly229Ser) c.1024G>A (p.Gly342Ser) c.-701G>A (n.-701G>A) | |
| X | g.108584502G>C | CA413928977 | COL4A5 | c.1009G>C (p.Gly337Arg) n.465G>C c.685G>C (p.Gly229Arg) c.1024G>C (p.Gly342Arg) c.-701G>C (n.-701G>C) | |
| X | g.108584502G= | CA2450684349 | COL4A5 | c.1009G= (p.Gly337=) n.465G= c.685G= (p.Gly229=) c.1024G= (p.Gly342=) c.-701G= (n.-701G=) | |
| X | g.108584502G>T | CA413928979 | COL4A5 | c.1009G>T (p.Gly337Cys) n.465G>T c.685G>T (p.Gly229Cys) c.1024G>T (p.Gly342Cys) c.-701G>T (n.-701G>T) | dbSNP gnomAD v2 |
| X | g.108584503del | CA2694414085 | COL4A5 | c.1010del (p.Gly337AlafsTer9) n.466del c.686del (p.Gly229AlafsTer9) c.1025del (p.Gly342AlafsTer9) c.-700del (n.-700del) | gnomAD v4 |
| X | g.108584503G>A | CA413928981 | COL4A5 | c.1010G>A (p.Gly337Asp) n.466G>A c.686G>A (p.Gly229Asp) c.1025G>A (p.Gly342Asp) c.-700G>A (n.-700G>A) | |
| X | g.108584503G>C | CA413928982 | COL4A5 | c.1010G>C (p.Gly337Ala) n.466G>C c.686G>C (p.Gly229Ala) c.1025G>C (p.Gly342Ala) c.-700G>C (n.-700G>C) | |
| X | g.108584503G= | CA2450684350 | COL4A5 | c.1010G= (p.Gly337=) n.466G= c.686G= (p.Gly229=) c.1025G= (p.Gly342=) c.-700G= (n.-700G=) | |
| X | g.108584503G>T | CA351673 | COL4A5 | c.1010G>T (p.Gly337Val) n.466G>T c.686G>T (p.Gly229Val) c.1025G>T (p.Gly342Val) c.-700G>T (n.-700G>T) | ClinVar dbSNP |
| X | g.108584504C>A | CA517991999 | COL4A5 | c.1011C>A (p.Gly337=) n.467C>A c.687C>A (p.Gly229=) c.1026C>A (p.Gly342=) c.-699C>A (n.-699C>A) | |
| X | g.108584504C>G | CA517992000 | COL4A5 | c.1011C>G (p.Gly337=) n.467C>G c.687C>G (p.Gly229=) c.1026C>G (p.Gly342=) c.-699C>G (n.-699C>G) | |
| X | g.108584504C>T | CA517992001 | COL4A5 | c.1011C>T (p.Gly337=) n.467C>T c.687C>T (p.Gly229=) c.1026C>T (p.Gly342=) c.-699C>T (n.-699C>T) | gnomAD v3 gnomAD v4 |
| X | g.108584506del | CA2694414089 | COL4A5 | c.1013del (p.Pro338HisfsTer8) n.469del c.689del (p.Pro230HisfsTer8) c.1028del (p.Pro343HisfsTer8) c.-697del (n.-697del) | gnomAD v4 |
| X | g.108584505C>A | CA413928990 | COL4A5 | c.1012C>A (p.Pro338Thr) n.468C>A c.688C>A (p.Pro230Thr) c.1027C>A (p.Pro343Thr) c.-698C>A (n.-698C>A) | gnomAD v4 |
| X | g.108584505C>G | CA413928987 | COL4A5 | c.1012C>G (p.Pro338Ala) n.468C>G c.688C>G (p.Pro230Ala) c.1027C>G (p.Pro343Ala) c.-698C>G (n.-698C>G) | |
| X | g.108584505C>T | CA413928984 | COL4A5 | c.1012C>T (p.Pro338Ser) n.468C>T c.688C>T (p.Pro230Ser) c.1027C>T (p.Pro343Ser) c.-698C>T (n.-698C>T) | |
| X | g.108584506C>A | CA413928994 | COL4A5 | c.1013C>A (p.Pro338Gln) n.469C>A c.689C>A (p.Pro230Gln) c.1028C>A (p.Pro343Gln) c.-697C>A (n.-697C>A) | dbSNP |
| X | g.108584506C= | CA2450684351 | COL4A5 | c.1013C= (p.Pro338=) n.469C= c.689C= (p.Pro230=) c.1028C= (p.Pro343=) c.-697C= (n.-697C=) | |
| X | g.108584506C>G | CA413928995 | COL4A5 | c.1013C>G (p.Pro338Arg) n.469C>G c.689C>G (p.Pro230Arg) c.1028C>G (p.Pro343Arg) c.-697C>G (n.-697C>G) | |
| X | g.108584506C>T | CA413928996 | COL4A5 | c.1013C>T (p.Pro338Leu) n.469C>T c.689C>T (p.Pro230Leu) c.1028C>T (p.Pro343Leu) c.-697C>T (n.-697C>T) | dbSNP |