| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666531G>A | CA413847733 | COL4A5 | c.3490G>A (p.Gly1164Ser) c.3166G>A (p.Gly1056Ser) c.1063G>A (p.Gly355Ser) c.3505G>A (p.Gly1169Ser) c.1825G>A (p.Gly609Ser) | gnomAD v4 |
| X | g.108666531G>C | CA413847732 | COL4A5 | c.3490G>C (p.Gly1164Arg) c.3166G>C (p.Gly1056Arg) c.1063G>C (p.Gly355Arg) c.3505G>C (p.Gly1169Arg) c.1825G>C (p.Gly609Arg) | |
| X | g.108666531G= | CA2450712327 | COL4A5 | c.3490G= (p.Gly1164=) c.3166G= (p.Gly1056=) c.1063G= (p.Gly355=) c.3505G= (p.Gly1169=) c.1825G= (p.Gly609=) | |
| X | g.108666531G>T | CA16043193 | COL4A5 | c.3490G>T (p.Gly1164Cys) c.3166G>T (p.Gly1056Cys) c.1063G>T (p.Gly355Cys) c.3505G>T (p.Gly1169Cys) c.1825G>T (p.Gly609Cys) | ClinVar dbSNP |
| X | g.108666532_108666534del | CA517922346 | COL4A5 | c.3491_3493del (p.Gly1164del) c.3167_3169del (p.Gly1056del) c.1064_1066del (p.Gly355del) c.3506_3508del (p.Gly1169del) c.1826_1828del (p.Gly609del) | |
| X | g.108666532G>A | CA413847734 | COL4A5 | c.3491G>A (p.Gly1164Asp) c.3167G>A (p.Gly1056Asp) c.1064G>A (p.Gly355Asp) c.3506G>A (p.Gly1169Asp) c.1826G>A (p.Gly609Asp) | ClinVar dbSNP |
| X | g.108666532G>C | CA413847735 | COL4A5 | c.3491G>C (p.Gly1164Ala) c.3167G>C (p.Gly1056Ala) c.1064G>C (p.Gly355Ala) c.3506G>C (p.Gly1169Ala) c.1826G>C (p.Gly609Ala) | |
| X | g.108666532G>T | CA413847736 | COL4A5 | c.3491G>T (p.Gly1164Val) c.3167G>T (p.Gly1056Val) c.1064G>T (p.Gly355Val) c.3506G>T (p.Gly1169Val) c.1826G>T (p.Gly609Val) | |
| X | g.108666533C>A | CA517922347 | COL4A5 | c.3492C>A (p.Gly1164=) c.3168C>A (p.Gly1056=) c.1065C>A (p.Gly355=) c.3507C>A (p.Gly1169=) c.1827C>A (p.Gly609=) | ClinVar dbSNP gnomAD v4 |
| X | g.108666533C= | CA2450712328 | COL4A5 | c.3492C= (p.Gly1164=) c.3168C= (p.Gly1056=) c.1065C= (p.Gly355=) c.3507C= (p.Gly1169=) c.1827C= (p.Gly609=) | |
| X | g.108666533C>G | CA517922348 | COL4A5 | c.3492C>G (p.Gly1164=) c.3168C>G (p.Gly1056=) c.1065C>G (p.Gly355=) c.3507C>G (p.Gly1169=) c.1827C>G (p.Gly609=) | |
| X | g.108666533C>T | CA334045709 | COL4A5 | c.3492C>T (p.Gly1164=) c.3168C>T (p.Gly1056=) c.1065C>T (p.Gly355=) c.3507C>T (p.Gly1169=) c.1827C>T (p.Gly609=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108666534G>A | CA10489123 | COL4A5 | c.3493G>A (p.Glu1165Lys) c.3169G>A (p.Glu1057Lys) c.1066G>A (p.Glu356Lys) c.3508G>A (p.Glu1170Lys) c.1828G>A (p.Glu610Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108666534G>C | CA413847737 | COL4A5 | c.3493G>C (p.Glu1165Gln) c.3169G>C (p.Glu1057Gln) c.1066G>C (p.Glu356Gln) c.3508G>C (p.Glu1170Gln) c.1828G>C (p.Glu610Gln) | |
| X | g.108666534G= | CA2450712329 | COL4A5 | c.3493G= (p.Glu1165=) c.3169G= (p.Glu1057=) c.1066G= (p.Glu356=) c.3508G= (p.Glu1170=) c.1828G= (p.Glu610=) | |
| X | g.108666534G>T | CA413847738 | COL4A5 | c.3493G>T (p.Glu1165Ter) c.3169G>T (p.Glu1057Ter) c.1066G>T (p.Glu356Ter) c.3508G>T (p.Glu1170Ter) c.1828G>T (p.Glu610Ter) | |
| X | g.108666535A>C | CA413847739 | COL4A5 | c.3494A>C (p.Glu1165Ala) c.3170A>C (p.Glu1057Ala) c.1067A>C (p.Glu356Ala) c.3509A>C (p.Glu1170Ala) c.1829A>C (p.Glu610Ala) | |
| X | g.108666535A>G | CA413847740 | COL4A5 | c.3494A>G (p.Glu1165Gly) c.3170A>G (p.Glu1057Gly) c.1067A>G (p.Glu356Gly) c.3509A>G (p.Glu1170Gly) c.1829A>G (p.Glu610Gly) | gnomAD v4 |
| X | g.108666535A>T | CA413847741 | COL4A5 | c.3494A>T (p.Glu1165Val) c.3170A>T (p.Glu1057Val) c.1067A>T (p.Glu356Val) c.3509A>T (p.Glu1170Val) c.1829A>T (p.Glu610Val) | |
| X | g.108666539del | CA643636642 | COL4A5 | c.3498del (p.Gly1167AlafsTer?) c.3174del (p.Gly1059AlafsTer?) c.1071del (p.Gly358AlafsTer?) c.3513del (p.Gly1172AlafsTer?) c.1833del (p.Gly612AlafsTer?) | gnomAD v2 gnomAD v4 |
| X | g.108666536A>C | CA413847742 | COL4A5 | c.3495A>C (p.Glu1165Asp) c.3171A>C (p.Glu1057Asp) c.1068A>C (p.Glu356Asp) c.3510A>C (p.Glu1170Asp) c.1830A>C (p.Glu610Asp) | |
| X | g.108666536A>G | CA517922349 | COL4A5 | c.3495A>G (p.Glu1165=) c.3171A>G (p.Glu1057=) c.1068A>G (p.Glu356=) c.3510A>G (p.Glu1170=) c.1830A>G (p.Glu610=) | |
| X | g.108666536A>T | CA413847743 | COL4A5 | c.3495A>T (p.Glu1165Asp) c.3171A>T (p.Glu1057Asp) c.1068A>T (p.Glu356Asp) c.3510A>T (p.Glu1170Asp) c.1830A>T (p.Glu610Asp) | COSMIC COSMIC |
| X | g.108666537A= | CA2450712330 | COL4A5 | c.3496A= (p.Lys1166=) c.3172A= (p.Lys1058=) c.1069A= (p.Lys357=) c.3511A= (p.Lys1171=) c.1831A= (p.Lys611=) | |
| X | g.108666537A>C | CA413847745 | COL4A5 | c.3496A>C (p.Lys1166Gln) c.3172A>C (p.Lys1058Gln) c.1069A>C (p.Lys357Gln) c.3511A>C (p.Lys1171Gln) c.1831A>C (p.Lys611Gln) | |
| X | g.108666537A>G | CA16621173 | COL4A5 | c.3496A>G (p.Lys1166Glu) c.3172A>G (p.Lys1058Glu) c.1069A>G (p.Lys357Glu) c.3511A>G (p.Lys1171Glu) c.1831A>G (p.Lys611Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108666537A>T | CA413847744 | COL4A5 | c.3496A>T (p.Lys1166Ter) c.3172A>T (p.Lys1058Ter) c.1069A>T (p.Lys357Ter) c.3511A>T (p.Lys1171Ter) c.1831A>T (p.Lys611Ter) | |
| X | g.108666540_108666545del | CA2580100167 | COL4A5 | c.3499_3504del (p.Gly1167_Lys1168del) c.3175_3180del (p.Gly1059_Lys1060del) c.1072_1077del (p.Gly358_Lys359del) c.3514_3519del (p.Gly1172_Lys1173del) c.1834_1839del (p.Gly612_Lys613del) | ClinVar |
| X | g.108666538A>C | CA413847746 | COL4A5 | c.3497A>C (p.Lys1166Thr) c.3173A>C (p.Lys1058Thr) c.1070A>C (p.Lys357Thr) c.3512A>C (p.Lys1171Thr) c.1832A>C (p.Lys611Thr) | |
| X | g.108666538A>G | CA413847747 | COL4A5 | c.3497A>G (p.Lys1166Arg) c.3173A>G (p.Lys1058Arg) c.1070A>G (p.Lys357Arg) c.3512A>G (p.Lys1171Arg) c.1832A>G (p.Lys611Arg) | gnomAD v4 |
| X | g.108666538A>T | CA413847748 | COL4A5 | c.3497A>T (p.Lys1166Ile) c.3173A>T (p.Lys1058Ile) c.1070A>T (p.Lys357Ile) c.3512A>T (p.Lys1171Ile) c.1832A>T (p.Lys611Ile) | |
| X | g.108666538_108666539insTATCT | CA517922354 | COL4A5 | c.3497_3498insTATCT (p.Lys1166AsnfsTer3) c.3173_3174insTATCT (p.Lys1058AsnfsTer3) c.1070_1071insTATCT (p.Lys357AsnfsTer3) c.3512_3513insTATCT (p.Lys1171AsnfsTer3) c.1832_1833insTATCT (p.Lys611AsnfsTer3) | |
| X | g.108666539A= | CA2450712331 | COL4A5 | c.3498A= (p.Lys1166=) c.3174A= (p.Lys1058=) c.1071A= (p.Lys357=) c.3513A= (p.Lys1171=) c.1833A= (p.Lys611=) | |
| X | g.108666539A>C | CA413847749 | COL4A5 | c.3498A>C (p.Lys1166Asn) c.3174A>C (p.Lys1058Asn) c.1071A>C (p.Lys357Asn) c.3513A>C (p.Lys1171Asn) c.1833A>C (p.Lys611Asn) | gnomAD v4 |
| X | g.108666539A>G | CA517922353 | COL4A5 | c.3498A>G (p.Lys1166=) c.3174A>G (p.Lys1058=) c.1071A>G (p.Lys357=) c.3513A>G (p.Lys1171=) c.1833A>G (p.Lys611=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108666539A>T | CA413847750 | COL4A5 | c.3498A>T (p.Lys1166Asn) c.3174A>T (p.Lys1058Asn) c.1071A>T (p.Lys357Asn) c.3513A>T (p.Lys1171Asn) c.1833A>T (p.Lys611Asn) | gnomAD v4 |
| X | g.108666540G>A | CA258876 | COL4A5 | c.3499G>A (p.Gly1167Ser) c.3175G>A (p.Gly1059Ser) c.1072G>A (p.Gly358Ser) c.3514G>A (p.Gly1172Ser) c.1834G>A (p.Gly612Ser) | ClinVar dbSNP |
| X | g.108666540G>C | CA413847751 | COL4A5 | c.3499G>C (p.Gly1167Arg) c.3175G>C (p.Gly1059Arg) c.1072G>C (p.Gly358Arg) c.3514G>C (p.Gly1172Arg) c.1834G>C (p.Gly612Arg) | gnomAD v4 |
| X | g.108666540G= | CA2450712332 | COL4A5 | c.3499G= (p.Gly1167=) c.3175G= (p.Gly1059=) c.1072G= (p.Gly358=) c.3514G= (p.Gly1172=) c.1834G= (p.Gly612=) | |
| X | g.108666540G>T | CA413847752 | COL4A5 | c.3499G>T (p.Gly1167Cys) c.3175G>T (p.Gly1059Cys) c.1072G>T (p.Gly358Cys) c.3514G>T (p.Gly1172Cys) c.1834G>T (p.Gly612Cys) | |
| X | g.108666541G>A | CA413847753 | COL4A5 | c.3500G>A (p.Gly1167Asp) c.3176G>A (p.Gly1059Asp) c.1073G>A (p.Gly358Asp) c.3515G>A (p.Gly1172Asp) c.1835G>A (p.Gly612Asp) | ClinVar |
| X | g.108666541G>C | CA413847754 | COL4A5 | c.3500G>C (p.Gly1167Ala) c.3176G>C (p.Gly1059Ala) c.1073G>C (p.Gly358Ala) c.3515G>C (p.Gly1172Ala) c.1835G>C (p.Gly612Ala) | |
| X | g.108666541G>T | CA413847755 | COL4A5 | c.3500G>T (p.Gly1167Val) c.3176G>T (p.Gly1059Val) c.1073G>T (p.Gly358Val) c.3515G>T (p.Gly1172Val) c.1835G>T (p.Gly612Val) | |
| X | g.108666542C>A | CA517922358 | COL4A5 | c.3501C>A (p.Gly1167=) c.3177C>A (p.Gly1059=) c.1074C>A (p.Gly358=) c.3516C>A (p.Gly1172=) c.1836C>A (p.Gly612=) | |
| X | g.108666542C>G | CA517922359 | COL4A5 | c.3501C>G (p.Gly1167=) c.3177C>G (p.Gly1059=) c.1074C>G (p.Gly358=) c.3516C>G (p.Gly1172=) c.1836C>G (p.Gly612=) | |
| X | g.108666542C>T | CA517922360 | COL4A5 | c.3501C>T (p.Gly1167=) c.3177C>T (p.Gly1059=) c.1074C>T (p.Gly358=) c.3516C>T (p.Gly1172=) c.1836C>T (p.Gly612=) | gnomAD v4 |
| X | g.108666543A>C | CA413847756 | COL4A5 | c.3502A>C (p.Lys1168Gln) c.3178A>C (p.Lys1060Gln) c.1075A>C (p.Lys359Gln) c.3517A>C (p.Lys1173Gln) c.1837A>C (p.Lys613Gln) | gnomAD v4 |
| X | g.108666543A>G | CA413847757 | COL4A5 | c.3502A>G (p.Lys1168Glu) c.3178A>G (p.Lys1060Glu) c.1075A>G (p.Lys359Glu) c.3517A>G (p.Lys1173Glu) c.1837A>G (p.Lys613Glu) | |
| X | g.108666543A>T | CA413847758 | COL4A5 | c.3502A>T (p.Lys1168Ter) c.3178A>T (p.Lys1060Ter) c.1075A>T (p.Lys359Ter) c.3517A>T (p.Lys1173Ter) c.1837A>T (p.Lys613Ter) | |
| X | g.108666544A= | CA2450712333 | COL4A5 | c.3503A= (p.Lys1168=) c.3179A= (p.Lys1060=) c.1076A= (p.Lys359=) c.3518A= (p.Lys1173=) c.1838A= (p.Lys613=) |