| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108584485G>A | CA413928830 | COL4A5 | c.992G>A (p.Gly331Asp) n.448G>A c.668G>A (p.Gly223Asp) c.1007G>A (p.Gly336Asp) c.-718G>A (n.-718G>A) | gnomAD v4 |
| X | g.108584485G>C | CA413928824 | COL4A5 | c.992G>C (p.Gly331Ala) n.448G>C c.668G>C (p.Gly223Ala) c.1007G>C (p.Gly336Ala) c.-718G>C (n.-718G>C) | |
| X | g.108584485G= | CA2450684339 | COL4A5 | c.992G= (p.Gly331=) n.448G= c.668G= (p.Gly223=) c.1007G= (p.Gly336=) c.-718G= (n.-718G=) | |
| X | g.108584485G>T | CA258383 | COL4A5 | c.992G>T (p.Gly331Val) n.448G>T c.668G>T (p.Gly223Val) c.1007G>T (p.Gly336Val) c.-718G>T (n.-718G>T) | dbSNP COSMIC COSMIC |
| X | g.108584486C>A | CA10488642 | COL4A5 | c.993C>A (p.Gly331=) n.449C>A c.669C>A (p.Gly223=) c.1008C>A (p.Gly336=) c.-717C>A (n.-717C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108584486C= | CA2450684340 | COL4A5 | c.993C= (p.Gly331=) n.449C= c.669C= (p.Gly223=) c.1008C= (p.Gly336=) c.-717C= (n.-717C=) | |
| X | g.108584486C>G | CA517991989 | COL4A5 | c.993C>G (p.Gly331=) n.449C>G c.669C>G (p.Gly223=) c.1008C>G (p.Gly336=) c.-717C>G (n.-717C>G) | |
| X | g.108584486C>T | CA517991990 | COL4A5 | c.993C>T (p.Gly331=) n.449C>T c.669C>T (p.Gly223=) c.1008C>T (p.Gly336=) c.-717C>T (n.-717C>T) | |
| X | g.108584487C>A | CA413928844 | COL4A5 | c.994C>A (p.Gln332Lys) n.450C>A c.670C>A (p.Gln224Lys) c.1009C>A (p.Gln337Lys) c.-716C>A (n.-716C>A) | |
| X | g.108584487C>G | CA413928848 | COL4A5 | c.994C>G (p.Gln332Glu) n.450C>G c.670C>G (p.Gln224Glu) c.1009C>G (p.Gln337Glu) c.-716C>G (n.-716C>G) | |
| X | g.108584487C>T | CA413928850 | COL4A5 | c.994C>T (p.Gln332Ter) n.450C>T c.670C>T (p.Gln224Ter) c.1009C>T (p.Gln337Ter) c.-716C>T (n.-716C>T) | ClinVar dbSNP |
| X | g.108584487_108584491delinsTCCC | CA2695235199 | COL4A5 | c.994_998delinsTCCC (p.Gln332SerfsTer14) n.450_454delinsTCCC c.670_674delinsTCCC (p.Gln224SerfsTer14) c.1009_1013delinsTCCC (p.Gln337SerfsTer14) c.-716_-712delinsTCCC (n.-716_-712delinsTCCC) | |
| X | g.108584488A= | CA2450684341 | COL4A5 | c.995A= (p.Gln332=) n.451A= c.671A= (p.Gln224=) c.1010A= (p.Gln337=) c.-715A= (n.-715A=) | |
| X | g.108584488A>C | CA413928853 | COL4A5 | c.995A>C (p.Gln332Pro) n.451A>C c.671A>C (p.Gln224Pro) c.1010A>C (p.Gln337Pro) c.-715A>C (n.-715A>C) | |
| X | g.108584488A>G | CA413928856 | COL4A5 | c.995A>G (p.Gln332Arg) n.451A>G c.671A>G (p.Gln224Arg) c.1010A>G (p.Gln337Arg) c.-715A>G (n.-715A>G) | dbSNP |
| X | g.108584488A>T | CA413928861 | COL4A5 | c.995A>T (p.Gln332Leu) n.451A>T c.671A>T (p.Gln224Leu) c.1010A>T (p.Gln337Leu) c.-715A>T (n.-715A>T) | |
| X | g.108584492del | CA2579676069 | COL4A5 | c.999del (p.Gly334ValfsTer12) n.455del c.675del (p.Gly226ValfsTer12) c.1014del (p.Gly339ValfsTer12) c.-711del (n.-711del) | gnomAD v4 |
| X | g.108584489A>C | CA413928863 | COL4A5 | c.996A>C (p.Gln332His) n.452A>C c.672A>C (p.Gln224His) c.1011A>C (p.Gln337His) c.-714A>C (n.-714A>C) | |
| X | g.108584489A>G | CA517991991 | COL4A5 | c.996A>G (p.Gln332=) n.452A>G c.672A>G (p.Gln224=) c.1011A>G (p.Gln337=) c.-714A>G (n.-714A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.108584489A>T | CA413928872 | COL4A5 | c.996A>T (p.Gln332His) n.452A>T c.672A>T (p.Gln224His) c.1011A>T (p.Gln337His) c.-714A>T (n.-714A>T) | |
| X | g.108584490A>C | CA413928876 | COL4A5 | c.997A>C (p.Lys333Gln) n.453A>C c.673A>C (p.Lys225Gln) c.1012A>C (p.Lys338Gln) c.-713A>C (n.-713A>C) | gnomAD v4 |
| X | g.108584490A>G | CA413928881 | COL4A5 | c.997A>G (p.Lys333Glu) n.453A>G c.673A>G (p.Lys225Glu) c.1012A>G (p.Lys338Glu) c.-713A>G (n.-713A>G) | |
| X | g.108584490A>T | CA413928883 | COL4A5 | c.997A>T (p.Lys333Ter) n.453A>T c.673A>T (p.Lys225Ter) c.1012A>T (p.Lys338Ter) c.-713A>T (n.-713A>T) | |
| X | g.108584491A>C | CA413928888 | COL4A5 | c.998A>C (p.Lys333Thr) n.454A>C c.674A>C (p.Lys225Thr) c.1013A>C (p.Lys338Thr) c.-712A>C (n.-712A>C) | |
| X | g.108584491A>G | CA413928900 | COL4A5 | c.998A>G (p.Lys333Arg) n.454A>G c.674A>G (p.Lys225Arg) c.1013A>G (p.Lys338Arg) c.-712A>G (n.-712A>G) | |
| X | g.108584491A>T | CA413928897 | COL4A5 | c.998A>T (p.Lys333Ile) n.454A>T c.674A>T (p.Lys225Ile) c.1013A>T (p.Lys338Ile) c.-712A>T (n.-712A>T) | |
| X | g.108584492A= | CA2450684342 | COL4A5 | c.999A= (p.Lys333=) n.455A= c.675A= (p.Lys225=) c.1014A= (p.Lys338=) c.-711A= (n.-711A=) | |
| X | g.108584492A>C | CA413928912 | COL4A5 | c.999A>C (p.Lys333Asn) n.455A>C c.675A>C (p.Lys225Asn) c.1014A>C (p.Lys338Asn) c.-711A>C (n.-711A>C) | |
| X | g.108584492A>G | CA10488643 | COL4A5 | c.999A>G (p.Lys333=) n.455A>G c.675A>G (p.Lys225=) c.1014A>G (p.Lys338=) c.-711A>G (n.-711A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108584492A>T | CA413928915 | COL4A5 | c.999A>T (p.Lys333Asn) n.455A>T c.675A>T (p.Lys225Asn) c.1014A>T (p.Lys338Asn) c.-711A>T (n.-711A>T) | |
| X | g.108584493G>A | CA413928930 | COL4A5 | c.1000G>A (p.Gly334Ser) n.456G>A c.676G>A (p.Gly226Ser) c.1015G>A (p.Gly339Ser) c.-710G>A (n.-710G>A) | |
| X | g.108584493G>C | CA413928931 | COL4A5 | c.1000G>C (p.Gly334Arg) n.456G>C c.676G>C (p.Gly226Arg) c.1015G>C (p.Gly339Arg) c.-710G>C (n.-710G>C) | |
| X | g.108584493G= | CA2450684343 | COL4A5 | c.1000G= (p.Gly334=) n.456G= c.676G= (p.Gly226=) c.1015G= (p.Gly339=) c.-710G= (n.-710G=) | |
| X | g.108584493G>T | CA413928932 | COL4A5 | c.1000G>T (p.Gly334Cys) n.456G>T c.676G>T (p.Gly226Cys) c.1015G>T (p.Gly339Cys) c.-710G>T (n.-710G>T) | |
| 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 |