| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626274_108626291dup | CA2695235759 | COL4A5 | c.3171_3188dup (p.Gly1063_Asp1064insLeuProGlyGlnLysGly) n.2627_2644dup c.404_421dup c.2847_2864dup (p.Gly955_Asp956insLeuProGlyGlnLysGly) c.744_761dup (p.Gly254_Asp255insLeuProGlyGlnLysGly) c.3186_3203dup (p.Gly1068_Asp1069insLeuProGlyGlnLysGly) c.1506_1523dup (p.Gly508_Asp509insLeuProGlyGlnLysGly) | |
| X | g.108626281G>A | CA413854983 | COL4A5 | c.3178G>A (p.Gly1060Arg) n.2634G>A c.411G>A c.2854G>A (p.Gly952Arg) c.751G>A (p.Gly251Arg) c.3193G>A (p.Gly1065Arg) c.1513G>A (p.Gly505Arg) | |
| X | g.108626281G>C | CA413854984 | COL4A5 | c.3178G>C (p.Gly1060Arg) n.2634G>C c.411G>C c.2854G>C (p.Gly952Arg) c.751G>C (p.Gly251Arg) c.3193G>C (p.Gly1065Arg) c.1513G>C (p.Gly505Arg) | |
| X | g.108626281G= | CA2450698088 | COL4A5 | c.3178G= (p.Gly1060=) n.2634G= c.411G= c.2854G= (p.Gly952=) c.751G= (p.Gly251=) c.3193G= (p.Gly1065=) c.1513G= (p.Gly505=) | |
| X | g.108626281G>T | CA258816 | COL4A5 | c.3178G>T (p.Gly1060Ter) n.2634G>T c.411G>T c.2854G>T (p.Gly952Ter) c.751G>T (p.Gly251Ter) c.3193G>T (p.Gly1065Ter) c.1513G>T (p.Gly505Ter) | ClinVar dbSNP |
| X | g.108626282del | CA2580100148 | COL4A5 | c.3179del (p.Gly1060AspfsTer?) n.2635del c.412del c.3179del (p.Gly1060AspfsTer24) c.2855del (p.Gly952AspfsTer?) c.752del (p.Gly251AspfsTer?) c.3194del (p.Gly1065AspfsTer?) c.1514del (p.Gly505AspfsTer?) | ClinVar |
| X | g.108626282G>A | CA413854985 | COL4A5 | c.3179G>A (p.Gly1060Glu) n.2635G>A c.412G>A c.2855G>A (p.Gly952Glu) c.752G>A (p.Gly251Glu) c.3194G>A (p.Gly1065Glu) c.1514G>A (p.Gly505Glu) | |
| X | g.108626282G>C | CA413854986 | COL4A5 | c.3179G>C (p.Gly1060Ala) n.2635G>C c.412G>C c.2855G>C (p.Gly952Ala) c.752G>C (p.Gly251Ala) c.3194G>C (p.Gly1065Ala) c.1514G>C (p.Gly505Ala) | |
| X | g.108626282G>T | CA413854987 | COL4A5 | c.3179G>T (p.Gly1060Val) n.2635G>T c.412G>T c.2855G>T (p.Gly952Val) c.752G>T (p.Gly251Val) c.3194G>T (p.Gly1065Val) c.1514G>T (p.Gly505Val) | |
| X | g.108626283A>C | CA517925909 | COL4A5 | c.3180A>C (p.Gly1060=) n.2636A>C c.413A>C c.2856A>C (p.Gly952=) c.753A>C (p.Gly251=) c.3195A>C (p.Gly1065=) c.1515A>C (p.Gly505=) | |
| X | g.108626283A>G | CA517925915 | COL4A5 | c.3180A>G (p.Gly1060=) n.2636A>G c.413A>G c.2856A>G (p.Gly952=) c.753A>G (p.Gly251=) c.3195A>G (p.Gly1065=) c.1515A>G (p.Gly505=) | |
| X | g.108626283A>T | CA517925919 | COL4A5 | c.3180A>T (p.Gly1060=) n.2636A>T c.413A>T c.2856A>T (p.Gly952=) c.753A>T (p.Gly251=) c.3195A>T (p.Gly1065=) c.1515A>T (p.Gly505=) | |
| X | g.108626284C>A | CA413854988 | COL4A5 | c.3181C>A (p.Gln1061Lys) n.2637C>A c.414C>A c.2857C>A (p.Gln953Lys) c.754C>A (p.Gln252Lys) c.3196C>A (p.Gln1066Lys) c.1516C>A (p.Gln506Lys) | |
| X | g.108626284C= | CA2450698089 | COL4A5 | c.3181C= (p.Gln1061=) n.2637C= c.414C= c.2857C= (p.Gln953=) c.754C= (p.Gln252=) c.3196C= (p.Gln1066=) c.1516C= (p.Gln506=) | |
| X | g.108626284C>G | CA413854989 | COL4A5 | c.3181C>G (p.Gln1061Glu) n.2637C>G c.414C>G c.2857C>G (p.Gln953Glu) c.754C>G (p.Gln252Glu) c.3196C>G (p.Gln1066Glu) c.1516C>G (p.Gln506Glu) | gnomAD v4 |
| X | g.108626284C>T | CA258819 | COL4A5 | c.3181C>T (p.Gln1061Ter) n.2637C>T c.414C>T c.2857C>T (p.Gln953Ter) c.754C>T (p.Gln252Ter) c.3196C>T (p.Gln1066Ter) c.1516C>T (p.Gln506Ter) | ClinVar dbSNP |
| X | g.108626285A= | CA2450698090 | COL4A5 | c.3182A= (p.Gln1061=) n.2638A= c.415A= c.2858A= (p.Gln953=) c.755A= (p.Gln252=) c.3197A= (p.Gln1066=) c.1517A= (p.Gln506=) | |
| X | g.108626285A>C | CA413854990 | COL4A5 | c.3182A>C (p.Gln1061Pro) n.2638A>C c.415A>C c.2858A>C (p.Gln953Pro) c.755A>C (p.Gln252Pro) c.3197A>C (p.Gln1066Pro) c.1517A>C (p.Gln506Pro) | |
| X | g.108626285A>G | CA413854992 | COL4A5 | c.3182A>G (p.Gln1061Arg) n.2638A>G c.415A>G c.2858A>G (p.Gln953Arg) c.755A>G (p.Gln252Arg) c.3197A>G (p.Gln1066Arg) c.1517A>G (p.Gln506Arg) | dbSNP gnomAD v4 |
| X | g.108626285A>T | CA413854991 | COL4A5 | c.3182A>T (p.Gln1061Leu) n.2638A>T c.415A>T c.2858A>T (p.Gln953Leu) c.755A>T (p.Gln252Leu) c.3197A>T (p.Gln1066Leu) c.1517A>T (p.Gln506Leu) | |
| X | g.108626286G>A | CA517925926 | COL4A5 | c.3183G>A (p.Gln1061=) n.2639G>A c.416G>A c.2859G>A (p.Gln953=) c.756G>A (p.Gln252=) c.3198G>A (p.Gln1066=) c.1518G>A (p.Gln506=) | dbSNP gnomAD v4 |
| X | g.108626286G>C | CA413854993 | COL4A5 | c.3183G>C (p.Gln1061His) n.2639G>C c.416G>C c.2859G>C (p.Gln953His) c.756G>C (p.Gln252His) c.3198G>C (p.Gln1066His) c.1518G>C (p.Gln506His) | |
| X | g.108626286G= | CA2450698091 | COL4A5 | c.3183G= (p.Gln1061=) n.2639G= c.416G= c.2859G= (p.Gln953=) c.756G= (p.Gln252=) c.3198G= (p.Gln1066=) c.1518G= (p.Gln506=) | |
| X | g.108626286G>T | CA413854994 | COL4A5 | c.3183G>T (p.Gln1061His) n.2639G>T c.416G>T c.2859G>T (p.Gln953His) c.756G>T (p.Gln252His) c.3198G>T (p.Gln1066His) c.1518G>T (p.Gln506His) | |
| X | g.108626287A>C | CA413854995 | COL4A5 | c.3184A>C (p.Lys1062Gln) n.2640A>C c.417A>C c.2860A>C (p.Lys954Gln) c.757A>C (p.Lys253Gln) c.3199A>C (p.Lys1067Gln) c.1519A>C (p.Lys507Gln) | |
| X | g.108626287A>G | CA413854996 | COL4A5 | c.3184A>G (p.Lys1062Glu) n.2640A>G c.417A>G c.2860A>G (p.Lys954Glu) c.757A>G (p.Lys253Glu) c.3199A>G (p.Lys1067Glu) c.1519A>G (p.Lys507Glu) | |
| X | g.108626287A>T | CA413854997 | COL4A5 | c.3184A>T (p.Lys1062Ter) n.2640A>T c.417A>T c.2860A>T (p.Lys954Ter) c.757A>T (p.Lys253Ter) c.3199A>T (p.Lys1067Ter) c.1519A>T (p.Lys507Ter) | |
| X | g.108626294_108626295insACAAGGTCAAAAAGGCGA | CA2741783363 | COL4A5 | c.3191_3192insACAAGGTCAAAAAGGCGA (p.Gly1063_Asp1064insGluGlnGlyGlnLysGly) n.2647_2648insACAAGGTCAAAAAGGCGA c.424_425insACAAGGTCAAAAAGGCGA c.2867_2868insACAAGGTCAAAAAGGCGA (p.Gly955_Asp956insGluGlnGlyGlnLysGly) c.764_765insACAAGGTCAAAAAGGCGA (p.Gly254_Asp255insGluGlnGlyGlnLysGly) c.3206_3207insACAAGGTCAAAAAGGCGA (p.Gly1068_Asp1069insGluGlnGlyGlnLysGly) c.1526_1527insACAAGGTCAAAAAGGCGA (p.Gly508_Asp509insGluGlnGlyGlnLysGly) | |
| X | g.108626288A= | CA2450698092 | COL4A5 | c.3185A= (p.Lys1062=) n.2641A= c.418A= c.2861A= (p.Lys954=) c.758A= (p.Lys253=) c.3200A= (p.Lys1067=) c.1520A= (p.Lys507=) | |
| X | g.108626288A>C | CA413854998 | COL4A5 | c.3185A>C (p.Lys1062Thr) n.2641A>C c.418A>C c.2861A>C (p.Lys954Thr) c.758A>C (p.Lys253Thr) c.3200A>C (p.Lys1067Thr) c.1520A>C (p.Lys507Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108626288A>G | CA413854999 | COL4A5 | c.3185A>G (p.Lys1062Arg) n.2641A>G c.418A>G c.2861A>G (p.Lys954Arg) c.758A>G (p.Lys253Arg) c.3200A>G (p.Lys1067Arg) c.1520A>G (p.Lys507Arg) | |
| X | g.108626288A>T | CA413855000 | COL4A5 | c.3185A>T (p.Lys1062Ile) n.2641A>T c.418A>T c.2861A>T (p.Lys954Ile) c.758A>T (p.Lys253Ile) c.3200A>T (p.Lys1067Ile) c.1520A>T (p.Lys507Ile) | COSMIC COSMIC |
| X | g.108626289A>C | CA413855001 | COL4A5 | c.3186A>C (p.Lys1062Asn) n.2642A>C c.419A>C c.2862A>C (p.Lys954Asn) c.759A>C (p.Lys253Asn) c.3201A>C (p.Lys1067Asn) c.1521A>C (p.Lys507Asn) | |
| X | g.108626289A>G | CA517925937 | COL4A5 | c.3186A>G (p.Lys1062=) n.2642A>G c.419A>G c.2862A>G (p.Lys954=) c.759A>G (p.Lys253=) c.3201A>G (p.Lys1067=) c.1521A>G (p.Lys507=) | |
| X | g.108626289A>T | CA413855002 | COL4A5 | c.3186A>T (p.Lys1062Asn) n.2642A>T c.419A>T c.2862A>T (p.Lys954Asn) c.759A>T (p.Lys253Asn) c.3201A>T (p.Lys1067Asn) c.1521A>T (p.Lys507Asn) | |
| X | g.108626290G>A | CA413855005 | COL4A5 | c.3187G>A (p.Gly1063Ser) n.2643G>A c.420G>A c.2863G>A (p.Gly955Ser) c.760G>A (p.Gly254Ser) c.3202G>A (p.Gly1068Ser) c.1522G>A (p.Gly508Ser) | |
| X | g.108626290G>C | CA413855004 | COL4A5 | c.3187G>C (p.Gly1063Arg) n.2643G>C c.420G>C c.2863G>C (p.Gly955Arg) c.760G>C (p.Gly254Arg) c.3202G>C (p.Gly1068Arg) c.1522G>C (p.Gly508Arg) | |
| X | g.108626290G>T | CA413855003 | COL4A5 | c.3187G>T (p.Gly1063Cys) n.2643G>T c.420G>T c.2863G>T (p.Gly955Cys) c.760G>T (p.Gly254Cys) c.3202G>T (p.Gly1068Cys) c.1522G>T (p.Gly508Cys) | |
| X | g.108626291G>A | CA413855007 | COL4A5 | c.3188G>A (p.Gly1063Asp) n.2644G>A c.421G>A c.2864G>A (p.Gly955Asp) c.761G>A (p.Gly254Asp) c.3203G>A (p.Gly1068Asp) c.1523G>A (p.Gly508Asp) | |
| X | g.108626291G>C | CA413855006 | COL4A5 | c.3188G>C (p.Gly1063Ala) n.2644G>C c.421G>C c.2864G>C (p.Gly955Ala) c.761G>C (p.Gly254Ala) c.3203G>C (p.Gly1068Ala) c.1523G>C (p.Gly508Ala) | |
| X | g.108626291G= | CA2450698093 | COL4A5 | c.3188G= (p.Gly1063=) n.2644G= c.421G= c.2864G= (p.Gly955=) c.761G= (p.Gly254=) c.3203G= (p.Gly1068=) c.1523G= (p.Gly508=) | |
| X | g.108626291G>T | CA258822 | COL4A5 | c.3188G>T (p.Gly1063Val) n.2644G>T c.421G>T c.2864G>T (p.Gly955Val) c.761G>T (p.Gly254Val) c.3203G>T (p.Gly1068Val) c.1523G>T (p.Gly508Val) | dbSNP |
| X | g.108626292C>A | CA517925946 | COL4A5 | c.3189C>A (p.Gly1063=) n.2645C>A c.422C>A c.2865C>A (p.Gly955=) c.762C>A (p.Gly254=) c.3204C>A (p.Gly1068=) c.1524C>A (p.Gly508=) | ClinVar dbSNP gnomAD v4 |
| X | g.108626292C= | CA2450698094 | COL4A5 | c.3189C= (p.Gly1063=) n.2645C= c.422C= c.2865C= (p.Gly955=) c.762C= (p.Gly254=) c.3204C= (p.Gly1068=) c.1524C= (p.Gly508=) | |
| X | g.108626292C>G | CA517925945 | COL4A5 | c.3189C>G (p.Gly1063=) n.2645C>G c.422C>G c.2865C>G (p.Gly955=) c.762C>G (p.Gly254=) c.3204C>G (p.Gly1068=) c.1524C>G (p.Gly508=) | ClinVar dbSNP |
| X | g.108626292C>T | CA10489041 | COL4A5 | c.3189C>T (p.Gly1063=) n.2645C>T c.422C>T c.2865C>T (p.Gly955=) c.762C>T (p.Gly254=) c.3204C>T (p.Gly1068=) c.1524C>T (p.Gly508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108626293G>A | CA10489042 | COL4A5 | c.3190G>A (p.Asp1064Asn) n.2646G>A c.423G>A c.2866G>A (p.Asp956Asn) c.763G>A (p.Asp255Asn) c.3205G>A (p.Asp1069Asn) c.1525G>A (p.Asp509Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108626293G>C | CA413855008 | COL4A5 | c.3190G>C (p.Asp1064His) n.2646G>C c.423G>C c.2866G>C (p.Asp956His) c.763G>C (p.Asp255His) c.3205G>C (p.Asp1069His) c.1525G>C (p.Asp509His) | |
| X | g.108626293G= | CA2450698095 | COL4A5 | c.3190G= (p.Asp1064=) n.2646G= c.423G= c.2866G= (p.Asp956=) c.763G= (p.Asp255=) c.3205G= (p.Asp1069=) c.1525G= (p.Asp509=) | |
| X | g.108626293G>T | CA413855009 | COL4A5 | c.3190G>T (p.Asp1064Tyr) n.2646G>T c.423G>T c.2866G>T (p.Asp956Tyr) c.763G>T (p.Asp255Tyr) c.3205G>T (p.Asp1069Tyr) c.1525G>T (p.Asp509Tyr) | |
| X | g.108626294A>C | CA413855012 | COL4A5 | c.3191A>C (p.Asp1064Ala) n.2647A>C c.424A>C c.2867A>C (p.Asp956Ala) c.764A>C (p.Asp255Ala) c.3206A>C (p.Asp1069Ala) c.1526A>C (p.Asp509Ala) | |
| X | g.108626294A>G | CA413855010 | COL4A5 | c.3191A>G (p.Asp1064Gly) n.2647A>G c.424A>G c.2867A>G (p.Asp956Gly) c.764A>G (p.Asp255Gly) c.3206A>G (p.Asp1069Gly) c.1526A>G (p.Asp509Gly) | |
| X | g.108626294A>T | CA413855011 | COL4A5 | c.3191A>T (p.Asp1064Val) n.2647A>T c.424A>T c.2867A>T (p.Asp956Val) c.764A>T (p.Asp255Val) c.3206A>T (p.Asp1069Val) c.1526A>T (p.Asp509Val) | |
| X | g.108626295C>A | CA413855013 | COL4A5 | c.3192C>A (p.Asp1064Glu) n.2648C>A c.425C>A c.2868C>A (p.Asp956Glu) c.765C>A (p.Asp255Glu) c.3207C>A (p.Asp1069Glu) c.1527C>A (p.Asp509Glu) | |
| X | g.108626295C>G | CA413855014 | COL4A5 | c.3192C>G (p.Asp1064Glu) n.2648C>G c.425C>G c.2868C>G (p.Asp956Glu) c.765C>G (p.Asp255Glu) c.3207C>G (p.Asp1069Glu) c.1527C>G (p.Asp509Glu) | |
| X | g.108626295C>T | CA517925956 | COL4A5 | c.3192C>T (p.Asp1064=) n.2648C>T c.425C>T c.2868C>T (p.Asp956=) c.765C>T (p.Asp255=) c.3207C>T (p.Asp1069=) c.1527C>T (p.Asp509=) | gnomAD v4 |
| X | g.108626296A>C | CA413855015 | COL4A5 | c.3193A>C (p.Lys1065Gln) n.2649A>C c.426A>C c.2869A>C (p.Lys957Gln) c.766A>C (p.Lys256Gln) c.3208A>C (p.Lys1070Gln) c.1528A>C (p.Lys510Gln) | |
| X | g.108626296A>G | CA413855016 | COL4A5 | c.3193A>G (p.Lys1065Glu) n.2649A>G c.426A>G c.2869A>G (p.Lys957Glu) c.766A>G (p.Lys256Glu) c.3208A>G (p.Lys1070Glu) c.1528A>G (p.Lys510Glu) | |
| X | g.108626296A>T | CA413855017 | COL4A5 | c.3193A>T (p.Lys1065Ter) n.2649A>T c.426A>T c.2869A>T (p.Lys957Ter) c.766A>T (p.Lys256Ter) c.3208A>T (p.Lys1070Ter) c.1528A>T (p.Lys510Ter) | |
| X | g.108626297A>C | CA413855018 | COL4A5 | c.3194A>C (p.Lys1065Thr) n.2650A>C c.427A>C c.2870A>C (p.Lys957Thr) c.767A>C (p.Lys256Thr) c.3209A>C (p.Lys1070Thr) c.1529A>C (p.Lys510Thr) | |
| X | g.108626297A>G | CA413855020 | COL4A5 | c.3194A>G (p.Lys1065Arg) n.2650A>G c.427A>G c.2870A>G (p.Lys957Arg) c.767A>G (p.Lys256Arg) c.3209A>G (p.Lys1070Arg) c.1529A>G (p.Lys510Arg) | ClinVar |
| X | g.108626297A>T | CA413855019 | COL4A5 | c.3194A>T (p.Lys1065Ile) n.2650A>T c.427A>T c.2870A>T (p.Lys957Ile) c.767A>T (p.Lys256Ile) c.3209A>T (p.Lys1070Ile) c.1529A>T (p.Lys510Ile) | |
| X | g.108626298A>C | CA413855021 | COL4A5 | c.3195A>C (p.Lys1065Asn) n.2651A>C c.428A>C c.2871A>C (p.Lys957Asn) c.768A>C (p.Lys256Asn) c.3210A>C (p.Lys1070Asn) c.1530A>C (p.Lys510Asn) | |
| X | g.108626298A>G | CA517925970 | COL4A5 | c.3195A>G (p.Lys1065=) n.2651A>G c.428A>G c.2871A>G (p.Lys957=) c.768A>G (p.Lys256=) c.3210A>G (p.Lys1070=) c.1530A>G (p.Lys510=) | gnomAD v4 |
| X | g.108626298A>T | CA413855022 | COL4A5 | c.3195A>T (p.Lys1065Asn) n.2651A>T c.428A>T c.2871A>T (p.Lys957Asn) c.768A>T (p.Lys256Asn) c.3210A>T (p.Lys1070Asn) c.1530A>T (p.Lys510Asn) | |
| X | g.108626299G>A | CA258827 | COL4A5 | c.3196G>A (p.Gly1066Ser) n.2652G>A c.429G>A c.2872G>A (p.Gly958Ser) c.769G>A (p.Gly257Ser) c.3211G>A (p.Gly1071Ser) c.1531G>A (p.Gly511Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108626299G>C | CA258825 | COL4A5 | c.3196G>C (p.Gly1066Arg) n.2652G>C c.429G>C c.2872G>C (p.Gly958Arg) c.769G>C (p.Gly257Arg) c.3211G>C (p.Gly1071Arg) c.1531G>C (p.Gly511Arg) | dbSNP |
| X | g.108626299G= | CA2450698096 | COL4A5 | c.3196G= (p.Gly1066=) n.2652G= c.429G= c.2872G= (p.Gly958=) c.769G= (p.Gly257=) c.3211G= (p.Gly1071=) c.1531G= (p.Gly511=) | |
| X | g.108626299G>T | CA10489043 | COL4A5 | c.3196G>T (p.Gly1066Cys) n.2652G>T c.429G>T c.2872G>T (p.Gly958Cys) c.769G>T (p.Gly257Cys) c.3211G>T (p.Gly1071Cys) c.1531G>T (p.Gly511Cys) | dbSNP ExAC |
| X | g.108626300G>A | CA413855023 | COL4A5 | c.3197G>A (p.Gly1066Asp) n.2653G>A c.430G>A c.2873G>A (p.Gly958Asp) c.770G>A (p.Gly257Asp) c.3212G>A (p.Gly1071Asp) c.1532G>A (p.Gly511Asp) | ClinVar dbSNP |
| X | g.108626300G>C | CA258829 | COL4A5 | c.3197G>C (p.Gly1066Ala) n.2653G>C c.430G>C c.2873G>C (p.Gly958Ala) c.770G>C (p.Gly257Ala) c.3212G>C (p.Gly1071Ala) c.1532G>C (p.Gly511Ala) | dbSNP |
| X | g.108626300G= | CA2450698097 | COL4A5 | c.3197G= (p.Gly1066=) n.2653G= c.430G= c.2873G= (p.Gly958=) c.770G= (p.Gly257=) c.3212G= (p.Gly1071=) c.1532G= (p.Gly511=) | |
| X | g.108626300G>T | CA413855024 | COL4A5 | c.3197G>T (p.Gly1066Val) n.2653G>T c.430G>T c.2873G>T (p.Gly958Val) c.770G>T (p.Gly257Val) c.3212G>T (p.Gly1071Val) c.1532G>T (p.Gly511Val) | ClinVar dbSNP |
| X | g.108626301T>A | CA517925979 | COL4A5 | c.3198T>A (p.Gly1066=) n.2654T>A c.431T>A c.2874T>A (p.Gly958=) c.771T>A (p.Gly257=) c.3213T>A (p.Gly1071=) c.1533T>A (p.Gly511=) | |
| X | g.108626301T>C | CA517925980 | COL4A5 | c.3198T>C (p.Gly1066=) n.2654T>C c.431T>C c.2874T>C (p.Gly958=) c.771T>C (p.Gly257=) c.3213T>C (p.Gly1071=) c.1533T>C (p.Gly511=) | |
| X | g.108626301T>G | CA517925982 | COL4A5 | c.3198T>G (p.Gly1066=) n.2654T>G c.431T>G c.2874T>G (p.Gly958=) c.771T>G (p.Gly257=) c.3213T>G (p.Gly1071=) c.1533T>G (p.Gly511=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108626301T= | CA2450697562 | COL4A5 | c.3198T= (p.Gly1066=) n.2654T= c.431T= c.2874T= (p.Gly958=) c.771T= (p.Gly257=) c.3213T= (p.Gly1071=) c.1533T= (p.Gly511=) | |
| X | g.108626302del | CA2579676667 | COL4A5 | c.3199del (p.Asp1067IlefsTer?) n.2655del c.432del c.3199del (p.Asp1067IlefsTer17) c.2875del (p.Asp959IlefsTer?) c.772del (p.Asp258IlefsTer?) c.3214del (p.Asp1072IlefsTer?) c.1534del (p.Asp512IlefsTer?) | |
| X | g.108626302G>A | CA413855025 | COL4A5 | c.3199G>A (p.Asp1067Asn) n.2655G>A c.432G>A c.2875G>A (p.Asp959Asn) c.772G>A (p.Asp258Asn) c.3214G>A (p.Asp1072Asn) c.1534G>A (p.Asp512Asn) | |
| X | g.108626302G>C | CA413855026 | COL4A5 | c.3199G>C (p.Asp1067His) n.2655G>C c.432G>C c.2875G>C (p.Asp959His) c.772G>C (p.Asp258His) c.3214G>C (p.Asp1072His) c.1534G>C (p.Asp512His) | |
| X | g.108626302G>T | CA413855027 | COL4A5 | c.3199G>T (p.Asp1067Tyr) n.2655G>T c.432G>T c.2875G>T (p.Asp959Tyr) c.772G>T (p.Asp258Tyr) c.3214G>T (p.Asp1072Tyr) c.1534G>T (p.Asp512Tyr) | |
| X | g.108626303A>C | CA413855029 | COL4A5 | c.3200A>C (p.Asp1067Ala) n.2656A>C c.433A>C c.2876A>C (p.Asp959Ala) c.773A>C (p.Asp258Ala) c.3215A>C (p.Asp1072Ala) c.1535A>C (p.Asp512Ala) | |
| X | g.108626303A>G | CA413855030 | COL4A5 | c.3200A>G (p.Asp1067Gly) n.2656A>G c.433A>G c.2876A>G (p.Asp959Gly) c.773A>G (p.Asp258Gly) c.3215A>G (p.Asp1072Gly) c.1535A>G (p.Asp512Gly) | |
| X | g.108626303A>T | CA413855028 | COL4A5 | c.3200A>T (p.Asp1067Val) n.2656A>T c.433A>T c.2876A>T (p.Asp959Val) c.773A>T (p.Asp258Val) c.3215A>T (p.Asp1072Val) c.1535A>T (p.Asp512Val) | |
| X | g.108626304T>A | CA413855031 | COL4A5 | c.3201T>A (p.Asp1067Glu) n.2657T>A c.434T>A c.2877T>A (p.Asp959Glu) c.774T>A (p.Asp258Glu) c.3216T>A (p.Asp1072Glu) c.1536T>A (p.Asp512Glu) | gnomAD v4 |
| X | g.108626304T>C | CA517925984 | COL4A5 | c.3201T>C (p.Asp1067=) n.2657T>C c.434T>C c.2877T>C (p.Asp959=) c.774T>C (p.Asp258=) c.3216T>C (p.Asp1072=) c.1536T>C (p.Asp512=) | |
| X | g.108626304T>G | CA413855032 | COL4A5 | c.3201T>G (p.Asp1067Glu) n.2657T>G c.434T>G c.2877T>G (p.Asp959Glu) c.774T>G (p.Asp258Glu) c.3216T>G (p.Asp1072Glu) c.1536T>G (p.Asp512Glu) | |
| X | g.108626305C>A | CA413855033 | COL4A5 | c.3202C>A (p.Pro1068Thr) n.2658C>A c.435C>A c.2878C>A (p.Pro960Thr) c.775C>A (p.Pro259Thr) c.3217C>A (p.Pro1073Thr) c.1537C>A (p.Pro513Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108626305C= | CA2450697564 | COL4A5 | c.3202C= (p.Pro1068=) n.2658C= c.435C= c.2878C= (p.Pro960=) c.775C= (p.Pro259=) c.3217C= (p.Pro1073=) c.1537C= (p.Pro513=) | |
| X | g.108626305C>G | CA413855034 | COL4A5 | c.3202C>G (p.Pro1068Ala) n.2658C>G c.435C>G c.2878C>G (p.Pro960Ala) c.775C>G (p.Pro259Ala) c.3217C>G (p.Pro1073Ala) c.1537C>G (p.Pro513Ala) | |
| X | g.108626305C>T | CA413855035 | COL4A5 | c.3202C>T (p.Pro1068Ser) n.2658C>T c.435C>T c.2878C>T (p.Pro960Ser) c.775C>T (p.Pro259Ser) c.3217C>T (p.Pro1073Ser) c.1537C>T (p.Pro513Ser) | |
| X | g.108626306C>A | CA413855036 | COL4A5 | c.3203C>A (p.Pro1068His) n.2659C>A c.436C>A c.2879C>A (p.Pro960His) c.776C>A (p.Pro259His) c.3218C>A (p.Pro1073His) c.1538C>A (p.Pro513His) | |
| X | g.108626306C>G | CA413855037 | COL4A5 | c.3203C>G (p.Pro1068Arg) n.2659C>G c.436C>G c.2879C>G (p.Pro960Arg) c.776C>G (p.Pro259Arg) c.3218C>G (p.Pro1073Arg) c.1538C>G (p.Pro513Arg) | |
| X | g.108626306C>T | CA413855038 | COL4A5 | c.3203C>T (p.Pro1068Leu) n.2659C>T c.436C>T c.2879C>T (p.Pro960Leu) c.776C>T (p.Pro259Leu) c.3218C>T (p.Pro1073Leu) c.1538C>T (p.Pro513Leu) | |
| X | g.108626307T>A | CA517925986 | COL4A5 | c.3204T>A (p.Pro1068=) n.2660T>A c.437T>A c.2880T>A (p.Pro960=) c.777T>A (p.Pro259=) c.3219T>A (p.Pro1073=) c.1539T>A (p.Pro513=) | gnomAD v4 |
| X | g.108626307T>C | CA517925988 | COL4A5 | c.3204T>C (p.Pro1068=) n.2660T>C c.437T>C c.2880T>C (p.Pro960=) c.777T>C (p.Pro259=) c.3219T>C (p.Pro1073=) c.1539T>C (p.Pro513=) | |
| X | g.108626307T>G | CA517925990 | COL4A5 | c.3204T>G (p.Pro1068=) n.2660T>G c.437T>G c.2880T>G (p.Pro960=) c.777T>G (p.Pro259=) c.3219T>G (p.Pro1073=) c.1539T>G (p.Pro513=) | |
| X | g.108626308G>A | CA413855039 | COL4A5 | c.3205G>A (p.Gly1069Ser) n.2661G>A c.438G>A c.2881G>A (p.Gly961Ser) c.778G>A (p.Gly260Ser) c.3220G>A (p.Gly1074Ser) c.1540G>A (p.Gly514Ser) | |
| X | g.108626308G>C | CA413855040 | COL4A5 | c.3205G>C (p.Gly1069Arg) n.2661G>C c.438G>C c.2881G>C (p.Gly961Arg) c.778G>C (p.Gly260Arg) c.3220G>C (p.Gly1074Arg) c.1540G>C (p.Gly514Arg) | |
| X | g.108626308G>T | CA413855041 | COL4A5 | c.3205G>T (p.Gly1069Cys) n.2661G>T c.438G>T c.2881G>T (p.Gly961Cys) c.778G>T (p.Gly260Cys) c.3220G>T (p.Gly1074Cys) c.1540G>T (p.Gly514Cys) | |
| X | g.108626309G>A | CA413855042 | COL4A5 | c.3206G>A (p.Gly1069Asp) n.2662G>A c.439G>A c.2882G>A (p.Gly961Asp) c.779G>A (p.Gly260Asp) c.3221G>A (p.Gly1074Asp) c.1541G>A (p.Gly514Asp) | gnomAD v4 |
| X | g.108626309G>C | CA413855043 | COL4A5 | c.3206G>C (p.Gly1069Ala) n.2662G>C c.439G>C c.2882G>C (p.Gly961Ala) c.779G>C (p.Gly260Ala) c.3221G>C (p.Gly1074Ala) c.1541G>C (p.Gly514Ala) | |
| X | g.108626309G= | CA2450697572 | COL4A5 | c.3206G= (p.Gly1069=) n.2662G= c.439G= c.2882G= (p.Gly961=) c.779G= (p.Gly260=) c.3221G= (p.Gly1074=) c.1541G= (p.Gly514=) | |
| X | g.108626309G>T | CA258832 | COL4A5 | c.3206G>T (p.Gly1069Val) n.2662G>T c.439G>T c.2882G>T (p.Gly961Val) c.779G>T (p.Gly260Val) c.3221G>T (p.Gly1074Val) c.1541G>T (p.Gly514Val) | ClinVar dbSNP |
| X | g.108626310T>A | CA517925992 | COL4A5 | c.3207T>A (p.Gly1069=) n.2663T>A c.440T>A c.2883T>A (p.Gly961=) c.780T>A (p.Gly260=) c.3222T>A (p.Gly1074=) c.1542T>A (p.Gly514=) | |
| X | g.108626310T>C | CA517925993 | COL4A5 | c.3207T>C (p.Gly1069=) n.2663T>C c.440T>C c.2883T>C (p.Gly961=) c.780T>C (p.Gly260=) c.3222T>C (p.Gly1074=) c.1542T>C (p.Gly514=) | |
| X | g.108626310T>G | CA517925997 | COL4A5 | c.3207T>G (p.Gly1069=) n.2663T>G c.440T>G c.2883T>G (p.Gly961=) c.780T>G (p.Gly260=) c.3222T>G (p.Gly1074=) c.1542T>G (p.Gly514=) | |
| X | g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT | CA2553195623 | COL4A5 | c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly1069_Ile1070insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp) n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly961_Ile962insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp) c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly260_Ile261insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp) c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly1074_Ile1075insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp) c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly514_Ile515insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp) | |
| X | g.108626310_108626311insGCTACTGG | CA2531327324 | COL4A5 | c.3207_3208insGCTACTGG (p.Ile1070AlafsTer?) n.2663_2664insGCTACTGG c.440_441insGCTACTGG c.3207_3208insGCTACTGG (p.Ile1070AlafsTer17) c.2883_2884insGCTACTGG (p.Ile962AlafsTer?) c.780_781insGCTACTGG (p.Ile261AlafsTer?) c.3222_3223insGCTACTGG (p.Ile1075AlafsTer?) c.1542_1543insGCTACTGG (p.Ile515AlafsTer?) | |
| X | g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG | CA2525388363 | COL4A5 | c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile1070AlafsTer27) n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile1070AlafsTer?) c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile962AlafsTer27) c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile261AlafsTer27) c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile1075AlafsTer27) c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile515AlafsTer27) | |
| X | g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC | CA2550565175 | COL4A5 | c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly1069_Ile1070insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp) n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly961_Ile962insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp) c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly260_Ile261insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp) c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly1074_Ile1075insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp) c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly514_Ile515insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp) | |
| X | g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA | CA2512878891 | COL4A5 | c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile1070AlafsTer?) n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile1070AlafsTer40) c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile962AlafsTer?) c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile261AlafsTer?) c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile1075AlafsTer?) c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile515AlafsTer?) | |
| X | g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA | CA2543819090 | COL4A5 | c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile1070AlafsTer46) n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile1070AlafsTer?) c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile962AlafsTer46) c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile261AlafsTer46) c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile1075AlafsTer46) c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile515AlafsTer46) | |
| X | g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG | CA2573017368 | COL4A5 | c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly1069_Ile1070insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln) n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly961_Ile962insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln) c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly260_Ile261insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln) c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly1074_Ile1075insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln) c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly514_Ile515insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln) | |
| X | g.108626310_108626311insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG | CA2538531135 | COL4A5 | c.3207_3208insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile1070AlafsTer?) n.2663_2664insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG c.440_441insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG c.3207_3208insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile1070AlafsTer53) c.2883_2884insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile962AlafsTer?) c.780_781insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile261AlafsTer?) c.3222_3223insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile1075AlafsTer?) c.1542_1543insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile515AlafsTer?) | |
| X | g.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG | CA2533710919 | COL4A5 | c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile1070AlafsTer?) n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile1070AlafsTer56) c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile962AlafsTer?) c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile261AlafsTer?) c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile1075AlafsTer?) c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile515AlafsTer?) | |
| X | g.108626311A= | CA2450697576 | COL4A5 | c.3208A= (p.Ile1070=) n.2664A= c.441A= c.2884A= (p.Ile962=) c.781A= (p.Ile261=) c.3223A= (p.Ile1075=) c.1543A= (p.Ile515=) | |
| X | g.108626311A>C | CA413855044 | COL4A5 | c.3208A>C (p.Ile1070Leu) n.2664A>C c.441A>C c.2884A>C (p.Ile962Leu) c.781A>C (p.Ile261Leu) c.3223A>C (p.Ile1075Leu) c.1543A>C (p.Ile515Leu) | |
| X | g.108626311A>G | CA10489044 | COL4A5 | c.3208A>G (p.Ile1070Val) n.2664A>G c.441A>G c.2884A>G (p.Ile962Val) c.781A>G (p.Ile261Val) c.3223A>G (p.Ile1075Val) c.1543A>G (p.Ile515Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108626311A>T | CA413855045 | COL4A5 | c.3208A>T (p.Ile1070Phe) n.2664A>T c.441A>T c.2884A>T (p.Ile962Phe) c.781A>T (p.Ile261Phe) c.3223A>T (p.Ile1075Phe) c.1543A>T (p.Ile515Phe) | |
| X | g.108626312T>A | CA413855046 | COL4A5 | c.3209T>A (p.Ile1070Asn) n.2665T>A c.442T>A c.2885T>A (p.Ile962Asn) c.782T>A (p.Ile261Asn) c.3224T>A (p.Ile1075Asn) c.1544T>A (p.Ile515Asn) | |
| X | g.108626312T>C | CA413855047 | COL4A5 | c.3209T>C (p.Ile1070Thr) n.2665T>C c.442T>C c.2885T>C (p.Ile962Thr) c.782T>C (p.Ile261Thr) c.3224T>C (p.Ile1075Thr) c.1544T>C (p.Ile515Thr) | |
| X | g.108626312T>G | CA413855048 | COL4A5 | c.3209T>G (p.Ile1070Ser) n.2665T>G c.442T>G c.2885T>G (p.Ile962Ser) c.782T>G (p.Ile261Ser) c.3224T>G (p.Ile1075Ser) c.1544T>G (p.Ile515Ser) | |
| X | g.108626312_108626313insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC | CA2822894985 | COL4A5 | c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser1071LeufsTer?) n.2665_2666insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC c.442_443insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser1071LeufsTer29) c.2885_2886insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser963LeufsTer?) c.782_783insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser262LeufsTer?) c.3224_3225insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser1076LeufsTer?) c.1544_1545insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser516LeufsTer?) | |
| X | g.108626312_108626313insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG | CA2524496902 | COL4A5 | c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser1071LeufsTer40) n.2665_2666insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG c.442_443insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser1071LeufsTer?) c.2885_2886insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser963LeufsTer40) c.782_783insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser262LeufsTer40) c.3224_3225insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser1076LeufsTer40) c.1544_1545insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser516LeufsTer40) | |
| X | g.108626313T>A | CA517925999 | COL4A5 | c.3210T>A (p.Ile1070=) n.2666T>A c.443T>A c.2886T>A (p.Ile962=) c.783T>A (p.Ile261=) c.3225T>A (p.Ile1075=) c.1545T>A (p.Ile515=) | ClinVar dbSNP |
| X | g.108626313T>C | CA517926000 | COL4A5 | c.3210T>C (p.Ile1070=) n.2666T>C c.443T>C c.2886T>C (p.Ile962=) c.783T>C (p.Ile261=) c.3225T>C (p.Ile1075=) c.1545T>C (p.Ile515=) | |
| X | g.108626313T>G | CA413855049 | COL4A5 | c.3210T>G (p.Ile1070Met) n.2666T>G c.443T>G c.2886T>G (p.Ile962Met) c.783T>G (p.Ile261Met) c.3225T>G (p.Ile1075Met) c.1545T>G (p.Ile515Met) | |
| X | g.108626314T>A | CA413855050 | COL4A5 | c.3211T>A (p.Ser1071Thr) n.2667T>A c.444T>A c.2887T>A (p.Ser963Thr) c.784T>A (p.Ser262Thr) c.3226T>A (p.Ser1076Thr) c.1546T>A (p.Ser516Thr) | |
| X | g.108626314T>C | CA413855051 | COL4A5 | c.3211T>C (p.Ser1071Pro) n.2667T>C c.444T>C c.2887T>C (p.Ser963Pro) c.784T>C (p.Ser262Pro) c.3226T>C (p.Ser1076Pro) c.1546T>C (p.Ser516Pro) | |
| X | g.108626314T>G | CA413855052 | COL4A5 | c.3211T>G (p.Ser1071Ala) n.2667T>G c.444T>G c.2887T>G (p.Ser963Ala) c.784T>G (p.Ser262Ala) c.3226T>G (p.Ser1076Ala) c.1546T>G (p.Ser516Ala) | |
| X | g.108626315C>A | CA413855053 | COL4A5 | c.3212C>A (p.Ser1071Ter) n.2668C>A c.445C>A c.2888C>A (p.Ser963Ter) c.785C>A (p.Ser262Ter) c.3227C>A (p.Ser1076Ter) c.1547C>A (p.Ser516Ter) | |
| X | g.108626315C= | CA2450697580 | COL4A5 | c.3212C= (p.Ser1071=) n.2668C= c.445C= c.2888C= (p.Ser963=) c.785C= (p.Ser262=) c.3227C= (p.Ser1076=) c.1547C= (p.Ser516=) | |
| X | g.108626315C>G | CA258835 | COL4A5 | c.3212C>G (p.Ser1071Ter) n.2668C>G c.445C>G c.2888C>G (p.Ser963Ter) c.785C>G (p.Ser262Ter) c.3227C>G (p.Ser1076Ter) c.1547C>G (p.Ser516Ter) | dbSNP |
| X | g.108626315C>T | CA413855054 | COL4A5 | c.3212C>T (p.Ser1071Leu) n.2668C>T c.445C>T c.2888C>T (p.Ser963Leu) c.785C>T (p.Ser262Leu) c.3227C>T (p.Ser1076Leu) c.1547C>T (p.Ser516Leu) | |
| X | g.108626316A>C | CA517926002 | COL4A5 | c.3213A>C (p.Ser1071=) n.2669A>C c.446A>C c.2889A>C (p.Ser963=) c.786A>C (p.Ser262=) c.3228A>C (p.Ser1076=) c.1548A>C (p.Ser516=) | |
| X | g.108626316A>G | CA517926004 | COL4A5 | c.3213A>G (p.Ser1071=) n.2669A>G c.446A>G c.2889A>G (p.Ser963=) c.786A>G (p.Ser262=) c.3228A>G (p.Ser1076=) c.1548A>G (p.Ser516=) | |
| X | g.108626316A>T | CA517926005 | COL4A5 | c.3213A>T (p.Ser1071=) n.2669A>T c.446A>T c.2889A>T (p.Ser963=) c.786A>T (p.Ser262=) c.3228A>T (p.Ser1076=) c.1548A>T (p.Ser516=) | |
| X | g.108626317A>C | CA413855056 | COL4A5 | c.3214A>C (p.Ser1072Arg) n.2670A>C c.447A>C c.2890A>C (p.Ser964Arg) c.787A>C (p.Ser263Arg) c.3229A>C (p.Ser1077Arg) c.1549A>C (p.Ser517Arg) | |
| X | g.108626317A>G | CA413855057 | COL4A5 | c.3214A>G (p.Ser1072Gly) n.2670A>G c.447A>G c.2890A>G (p.Ser964Gly) c.787A>G (p.Ser263Gly) c.3229A>G (p.Ser1077Gly) c.1549A>G (p.Ser517Gly) | |
| X | g.108626317A>T | CA413855055 | COL4A5 | c.3214A>T (p.Ser1072Cys) n.2670A>T c.447A>T c.2890A>T (p.Ser964Cys) c.787A>T (p.Ser263Cys) c.3229A>T (p.Ser1077Cys) c.1549A>T (p.Ser517Cys) | |
| X | g.108626319_108626332del | CA2697544691 | COL4A5 | c.3216_3229del (p.Ser1072ArgfsTer8) n.2672_2685del c.449_462del c.3216_3229del (p.Ser1072ArgfsTer?) c.2892_2905del (p.Ser964ArgfsTer8) c.789_802del (p.Ser263ArgfsTer8) c.3231_3244del (p.Ser1077ArgfsTer8) c.1551_1564del (p.Ser517ArgfsTer8) | ClinVar |
| X | g.108626318G>A | CA413855059 | COL4A5 | c.3215G>A (p.Ser1072Asn) n.2671G>A c.448G>A c.2891G>A (p.Ser964Asn) c.788G>A (p.Ser263Asn) c.3230G>A (p.Ser1077Asn) c.1550G>A (p.Ser517Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108626318G>C | CA413855060 | COL4A5 | c.3215G>C (p.Ser1072Thr) n.2671G>C c.448G>C c.2891G>C (p.Ser964Thr) c.788G>C (p.Ser263Thr) c.3230G>C (p.Ser1077Thr) c.1550G>C (p.Ser517Thr) | |
| X | g.108626318G= | CA2450697584 | COL4A5 | c.3215G= (p.Ser1072=) n.2671G= c.448G= c.2891G= (p.Ser964=) c.788G= (p.Ser263=) c.3230G= (p.Ser1077=) c.1550G= (p.Ser517=) | |
| X | g.108626318G>T | CA413855061 | COL4A5 | c.3215G>T (p.Ser1072Ile) n.2671G>T c.448G>T c.2891G>T (p.Ser964Ile) c.788G>T (p.Ser263Ile) c.3230G>T (p.Ser1077Ile) c.1550G>T (p.Ser517Ile) | |
| X | g.108626319C>A | CA413855062 | COL4A5 | c.3216C>A (p.Ser1072Arg) n.2672C>A c.449C>A c.2892C>A (p.Ser964Arg) c.789C>A (p.Ser263Arg) c.3231C>A (p.Ser1077Arg) c.1551C>A (p.Ser517Arg) | gnomAD v4 |
| X | g.108626319C>G | CA413855063 | COL4A5 | c.3216C>G (p.Ser1072Arg) n.2672C>G c.449C>G c.2892C>G (p.Ser964Arg) c.789C>G (p.Ser263Arg) c.3231C>G (p.Ser1077Arg) c.1551C>G (p.Ser517Arg) | |
| X | g.108626319C>T | CA517926006 | COL4A5 | c.3216C>T (p.Ser1072=) n.2672C>T c.449C>T c.2892C>T (p.Ser964=) c.789C>T (p.Ser263=) c.3231C>T (p.Ser1077=) c.1551C>T (p.Ser517=) | |
| X | g.108626320A= | CA2450697587 | COL4A5 | c.3217A= (p.Ile1073=) n.2673A= c.450A= c.2893A= (p.Ile965=) c.790A= (p.Ile264=) c.3232A= (p.Ile1078=) c.1552A= (p.Ile518=) | |
| X | g.108626320A>C | CA413855064 | COL4A5 | c.3217A>C (p.Ile1073Leu) n.2673A>C c.450A>C c.2893A>C (p.Ile965Leu) c.790A>C (p.Ile264Leu) c.3232A>C (p.Ile1078Leu) c.1552A>C (p.Ile518Leu) | |
| X | g.108626320A>G | CA413855065 | COL4A5 | c.3217A>G (p.Ile1073Val) n.2673A>G c.450A>G c.2893A>G (p.Ile965Val) c.790A>G (p.Ile264Val) c.3232A>G (p.Ile1078Val) c.1552A>G (p.Ile518Val) | dbSNP |
| X | g.108626320A>T | CA413855066 | COL4A5 | c.3217A>T (p.Ile1073Phe) n.2673A>T c.450A>T c.2893A>T (p.Ile965Phe) c.790A>T (p.Ile264Phe) c.3232A>T (p.Ile1078Phe) c.1552A>T (p.Ile518Phe) | |
| X | g.108626321T>A | CA413855067 | COL4A5 | c.3218T>A (p.Ile1073Asn) n.2674T>A c.451T>A c.2894T>A (p.Ile965Asn) c.791T>A (p.Ile264Asn) c.3233T>A (p.Ile1078Asn) c.1553T>A (p.Ile518Asn) | |
| X | g.108626321T>C | CA413855068 | COL4A5 | c.3218T>C (p.Ile1073Thr) n.2674T>C c.451T>C c.2894T>C (p.Ile965Thr) c.791T>C (p.Ile264Thr) c.3233T>C (p.Ile1078Thr) c.1553T>C (p.Ile518Thr) | dbSNP gnomAD v2 |
| X | g.108626321T>G | CA413855069 | COL4A5 | c.3218T>G (p.Ile1073Ser) n.2674T>G c.451T>G c.2894T>G (p.Ile965Ser) c.791T>G (p.Ile264Ser) c.3233T>G (p.Ile1078Ser) c.1553T>G (p.Ile518Ser) | |
| X | g.108626321T= | CA2450697590 | COL4A5 | c.3218T= (p.Ile1073=) n.2674T= c.451T= c.2894T= (p.Ile965=) c.791T= (p.Ile264=) c.3233T= (p.Ile1078=) c.1553T= (p.Ile518=) | |
| X | g.108626322T>A | CA517926008 | COL4A5 | c.3219T>A (p.Ile1073=) n.2675T>A c.452T>A c.2895T>A (p.Ile965=) c.792T>A (p.Ile264=) c.3234T>A (p.Ile1078=) c.1554T>A (p.Ile518=) | |
| X | g.108626322T>C | CA517926009 | COL4A5 | c.3219T>C (p.Ile1073=) n.2675T>C c.452T>C c.2895T>C (p.Ile965=) c.792T>C (p.Ile264=) c.3234T>C (p.Ile1078=) c.1554T>C (p.Ile518=) | |
| X | g.108626322T>G | CA413855070 | COL4A5 | c.3219T>G (p.Ile1073Met) n.2675T>G c.452T>G c.2895T>G (p.Ile965Met) c.792T>G (p.Ile264Met) c.3234T>G (p.Ile1078Met) c.1554T>G (p.Ile518Met) | |
| X | g.108626323G>A | CA10489045 | COL4A5 | c.3220G>A (p.Gly1074Ser) n.2676G>A c.453G>A c.2896G>A (p.Gly966Ser) c.793G>A (p.Gly265Ser) c.3235G>A (p.Gly1079Ser) c.1555G>A (p.Gly519Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108626323G>C | CA10489046 | COL4A5 | c.3220G>C (p.Gly1074Arg) n.2676G>C c.453G>C c.2896G>C (p.Gly966Arg) c.793G>C (p.Gly265Arg) c.3235G>C (p.Gly1079Arg) c.1555G>C (p.Gly519Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108626323G= | CA2450697596 | COL4A5 | c.3220G= (p.Gly1074=) n.2676G= c.453G= c.2896G= (p.Gly966=) c.793G= (p.Gly265=) c.3235G= (p.Gly1079=) c.1555G= (p.Gly519=) | |
| X | g.108626323G>T | CA413855071 | COL4A5 | c.3220G>T (p.Gly1074Cys) n.2676G>T c.453G>T c.2896G>T (p.Gly966Cys) c.793G>T (p.Gly265Cys) c.3235G>T (p.Gly1079Cys) c.1555G>T (p.Gly519Cys) | gnomAD v4 |
| X | g.108626324G>A | CA413855072 | COL4A5 | c.3221G>A (p.Gly1074Asp) n.2677G>A c.454G>A c.2897G>A (p.Gly966Asp) c.794G>A (p.Gly265Asp) c.3236G>A (p.Gly1079Asp) c.1556G>A (p.Gly519Asp) | |
| X | g.108626324G>C | CA413855073 | COL4A5 | c.3221G>C (p.Gly1074Ala) n.2677G>C c.454G>C c.2897G>C (p.Gly966Ala) c.794G>C (p.Gly265Ala) c.3236G>C (p.Gly1079Ala) c.1556G>C (p.Gly519Ala) | |
| X | g.108626324G>T | CA413855074 | COL4A5 | c.3221G>T (p.Gly1074Val) n.2677G>T c.454G>T c.2897G>T (p.Gly966Val) c.794G>T (p.Gly265Val) c.3236G>T (p.Gly1079Val) c.1556G>T (p.Gly519Val) | |
| X | g.108626325T>A | CA517926012 | COL4A5 | c.3222T>A (p.Gly1074=) n.2678T>A c.455T>A c.2898T>A (p.Gly966=) c.795T>A (p.Gly265=) c.3237T>A (p.Gly1079=) c.1557T>A (p.Gly519=) | |
| X | g.108626325T>C | CA517926013 | COL4A5 | c.3222T>C (p.Gly1074=) n.2678T>C c.455T>C c.2898T>C (p.Gly966=) c.795T>C (p.Gly265=) c.3237T>C (p.Gly1079=) c.1557T>C (p.Gly519=) | |
| X | g.108626325T>G | CA10489047 | COL4A5 | c.3222T>G (p.Gly1074=) n.2678T>G c.455T>G c.2898T>G (p.Gly966=) c.795T>G (p.Gly265=) c.3237T>G (p.Gly1079=) c.1557T>G (p.Gly519=) | dbSNP ExAC gnomAD v2 |
| X | g.108626325T= | CA2450697600 | COL4A5 | c.3222T= (p.Gly1074=) n.2678T= c.455T= c.2898T= (p.Gly966=) c.795T= (p.Gly265=) c.3237T= (p.Gly1079=) c.1557T= (p.Gly519=) | |
| X | g.108626326C>A | CA413855075 | COL4A5 | c.3223C>A (p.Leu1075Ile) n.2679C>A c.456C>A c.2899C>A (p.Leu967Ile) c.796C>A (p.Leu266Ile) c.3238C>A (p.Leu1080Ile) c.1558C>A (p.Leu520Ile) | |
| X | g.108626326C= | CA2450697603 | COL4A5 | c.3223C= (p.Leu1075=) n.2679C= c.456C= c.2899C= (p.Leu967=) c.796C= (p.Leu266=) c.3238C= (p.Leu1080=) c.1558C= (p.Leu520=) | |
| X | g.108626326C>G | CA413855076 | COL4A5 | c.3223C>G (p.Leu1075Val) n.2679C>G c.456C>G c.2899C>G (p.Leu967Val) c.796C>G (p.Leu266Val) c.3238C>G (p.Leu1080Val) c.1558C>G (p.Leu520Val) | |
| X | g.108626326C>T | CA334052658 | COL4A5 | c.3223C>T (p.Leu1075Phe) n.2679C>T c.456C>T c.2899C>T (p.Leu967Phe) c.796C>T (p.Leu266Phe) c.3238C>T (p.Leu1080Phe) c.1558C>T (p.Leu520Phe) | dbSNP |
| X | g.108626327T>A | CA413855077 | COL4A5 | c.3224T>A (p.Leu1075His) n.2680T>A c.457T>A c.2900T>A (p.Leu967His) c.797T>A (p.Leu266His) c.3239T>A (p.Leu1080His) c.1559T>A (p.Leu520His) | |
| X | g.108626327T>C | CA413855078 | COL4A5 | c.3224T>C (p.Leu1075Pro) n.2680T>C c.457T>C c.2900T>C (p.Leu967Pro) c.797T>C (p.Leu266Pro) c.3239T>C (p.Leu1080Pro) c.1559T>C (p.Leu520Pro) | |
| X | g.108626327T>G | CA413855079 | COL4A5 | c.3224T>G (p.Leu1075Arg) n.2680T>G c.457T>G c.2900T>G (p.Leu967Arg) c.797T>G (p.Leu266Arg) c.3239T>G (p.Leu1080Arg) c.1559T>G (p.Leu520Arg) | dbSNP gnomAD v2 |
| X | g.108626327T= | CA2450697604 | COL4A5 | c.3224T= (p.Leu1075=) n.2680T= c.457T= c.2900T= (p.Leu967=) c.797T= (p.Leu266=) c.3239T= (p.Leu1080=) c.1559T= (p.Leu520=) | |
| X | g.108626328T>A | CA517926015 | COL4A5 | c.3225T>A (p.Leu1075=) n.2681T>A c.458T>A c.2901T>A (p.Leu967=) c.798T>A (p.Leu266=) c.3240T>A (p.Leu1080=) c.1560T>A (p.Leu520=) | |
| X | g.108626328T>C | CA517926017 | COL4A5 | c.3225T>C (p.Leu1075=) n.2681T>C c.458T>C c.2901T>C (p.Leu967=) c.798T>C (p.Leu266=) c.3240T>C (p.Leu1080=) c.1560T>C (p.Leu520=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108626328T>G | CA517926016 | COL4A5 | c.3225T>G (p.Leu1075=) n.2681T>G c.458T>G c.2901T>G (p.Leu967=) c.798T>G (p.Leu266=) c.3240T>G (p.Leu1080=) c.1560T>G (p.Leu520=) | |
| X | g.108626328T= | CA2450697608 | COL4A5 | c.3225T= (p.Leu1075=) n.2681T= c.458T= c.2901T= (p.Leu967=) c.798T= (p.Leu266=) c.3240T= (p.Leu1080=) c.1560T= (p.Leu520=) | |
| X | g.108626328_108626329delinsTC | CA2450697606 | COL4A5 | c.3225_3226delinsTC (p.Leu1075=) n.2681_2682delinsTC c.458_459delinsTC c.2901_2902delinsTC (p.Leu967=) c.798_799delinsTC (p.Leu266=) c.3240_3241delinsTC (p.Leu1080=) c.1560_1561delinsTC (p.Leu520=) | |
| X | g.108626329C>A | CA413855080 | COL4A5 | c.3226C>A (p.Pro1076Thr) n.2682C>A c.459C>A c.2902C>A (p.Pro968Thr) c.799C>A (p.Pro267Thr) c.3241C>A (p.Pro1081Thr) c.1561C>A (p.Pro521Thr) | |
| X | g.108626329C= | CA2450697613 | COL4A5 | c.3226C= (p.Pro1076=) n.2682C= c.459C= c.2902C= (p.Pro968=) c.799C= (p.Pro267=) c.3241C= (p.Pro1081=) c.1561C= (p.Pro521=) | |
| X | g.108626329C>G | CA413855081 | COL4A5 | c.3226C>G (p.Pro1076Ala) n.2682C>G c.459C>G c.2902C>G (p.Pro968Ala) c.799C>G (p.Pro267Ala) c.3241C>G (p.Pro1081Ala) c.1561C>G (p.Pro521Ala) | |
| X | g.108626329C>T | CA10489048 | COL4A5 | c.3226C>T (p.Pro1076Ser) n.2682C>T c.459C>T c.2902C>T (p.Pro968Ser) c.799C>T (p.Pro267Ser) c.3241C>T (p.Pro1081Ser) c.1561C>T (p.Pro521Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108626330del | CA891843949 | COL4A5 | c.3227del (p.Pro1076GlnfsTer?) n.2683del c.460del c.3227del (p.Pro1076GlnfsTer8) c.2903del (p.Pro968GlnfsTer?) c.800del (p.Pro267GlnfsTer?) c.3242del (p.Pro1081GlnfsTer?) c.1562del (p.Pro521GlnfsTer?) | |
| X | g.108626330C>A | CA413855083 | COL4A5 | c.3227C>A (p.Pro1076Gln) n.2683C>A c.460C>A c.2903C>A (p.Pro968Gln) c.800C>A (p.Pro267Gln) c.3242C>A (p.Pro1081Gln) c.1562C>A (p.Pro521Gln) | |
| X | g.108626330C>G | CA413855084 | COL4A5 | c.3227C>G (p.Pro1076Arg) n.2683C>G c.460C>G c.2903C>G (p.Pro968Arg) c.800C>G (p.Pro267Arg) c.3242C>G (p.Pro1081Arg) c.1562C>G (p.Pro521Arg) | |
| X | g.108626330C>T | CA413855082 | COL4A5 | c.3227C>T (p.Pro1076Leu) n.2683C>T c.460C>T c.2903C>T (p.Pro968Leu) c.800C>T (p.Pro267Leu) c.3242C>T (p.Pro1081Leu) c.1562C>T (p.Pro521Leu) | COSMIC COSMIC |
| X | g.108626331A= | CA2450697621 | COL4A5 | c.3228A= (p.Pro1076=) n.2684A= c.461A= c.2904A= (p.Pro968=) c.801A= (p.Pro267=) c.3243A= (p.Pro1081=) c.1563A= (p.Pro521=) | |
| X | g.108626331A>C | CA517926019 | COL4A5 | c.3228A>C (p.Pro1076=) n.2684A>C c.461A>C c.2904A>C (p.Pro968=) c.801A>C (p.Pro267=) c.3243A>C (p.Pro1081=) c.1563A>C (p.Pro521=) | |
| X | g.108626331A>G | CA517926020 | COL4A5 | c.3228A>G (p.Pro1076=) n.2684A>G c.461A>G c.2904A>G (p.Pro968=) c.801A>G (p.Pro267=) c.3243A>G (p.Pro1081=) c.1563A>G (p.Pro521=) | |
| X | g.108626331A>T | CA334052664 | COL4A5 | c.3228A>T (p.Pro1076=) n.2684A>T c.461A>T c.2904A>T (p.Pro968=) c.801A>T (p.Pro267=) c.3243A>T (p.Pro1081=) c.1563A>T (p.Pro521=) | dbSNP |
| X | g.108626332G>A | CA413855085 | COL4A5 | c.3229G>A (p.Gly1077Ser) n.2685G>A c.462G>A c.2905G>A (p.Gly969Ser) c.802G>A (p.Gly268Ser) c.3244G>A (p.Gly1082Ser) c.1564G>A (p.Gly522Ser) | |
| X | g.108626332G>C | CA413855087 | COL4A5 | c.3229G>C (p.Gly1077Arg) n.2685G>C c.462G>C c.2905G>C (p.Gly969Arg) c.802G>C (p.Gly268Arg) c.3244G>C (p.Gly1082Arg) c.1564G>C (p.Gly522Arg) | |
| X | g.108626332G>T | CA413855086 | COL4A5 | c.3229G>T (p.Gly1077Cys) n.2685G>T c.462G>T c.2905G>T (p.Gly969Cys) c.802G>T (p.Gly268Cys) c.3244G>T (p.Gly1082Cys) c.1564G>T (p.Gly522Cys) | |
| X | g.108626333del | CA2573159106 | COL4A5 | c.3230del (p.Gly1077ValfsTer?) n.2686del c.463del c.3230del (p.Gly1077ValfsTer7) c.2906del (p.Gly969ValfsTer?) c.803del (p.Gly268ValfsTer?) c.3245del (p.Gly1082ValfsTer?) c.1565del (p.Gly522ValfsTer?) | ClinVar dbSNP |
| X | g.108626333G>A | CA413855088 | COL4A5 | c.3230G>A (p.Gly1077Asp) n.2686G>A c.463G>A c.2906G>A (p.Gly969Asp) c.803G>A (p.Gly268Asp) c.3245G>A (p.Gly1082Asp) c.1565G>A (p.Gly522Asp) | |
| X | g.108626333G>C | CA413855089 | COL4A5 | c.3230G>C (p.Gly1077Ala) n.2686G>C c.463G>C c.2906G>C (p.Gly969Ala) c.803G>C (p.Gly268Ala) c.3245G>C (p.Gly1082Ala) c.1565G>C (p.Gly522Ala) | |
| X | g.108626333G>T | CA413855090 | COL4A5 | c.3230G>T (p.Gly1077Val) n.2686G>T c.463G>T c.2906G>T (p.Gly969Val) c.803G>T (p.Gly268Val) c.3245G>T (p.Gly1082Val) c.1565G>T (p.Gly522Val) | |
| X | g.108626334T>A | CA517926022 | COL4A5 | c.3231T>A (p.Gly1077=) n.2687T>A c.464T>A c.2907T>A (p.Gly969=) c.804T>A (p.Gly268=) c.3246T>A (p.Gly1082=) c.1566T>A (p.Gly522=) | |
| X | g.108626334T>C | CA517926023 | COL4A5 | c.3231T>C (p.Gly1077=) n.2687T>C c.464T>C c.2907T>C (p.Gly969=) c.804T>C (p.Gly268=) c.3246T>C (p.Gly1082=) c.1566T>C (p.Gly522=) | |
| X | g.108626334T>G | CA517926025 | COL4A5 | c.3231T>G (p.Gly1077=) n.2687T>G c.464T>G c.2907T>G (p.Gly969=) c.804T>G (p.Gly268=) c.3246T>G (p.Gly1082=) c.1566T>G (p.Gly522=) | |
| X | g.108626335C>A | CA413855091 | COL4A5 | c.3232C>A (p.Leu1078Ile) n.2688C>A c.465C>A c.2908C>A (p.Leu970Ile) c.805C>A (p.Leu269Ile) c.3247C>A (p.Leu1083Ile) c.1567C>A (p.Leu523Ile) | |
| X | g.108626335C= | CA2450697624 | COL4A5 | c.3232C= (p.Leu1078=) n.2688C= c.465C= c.2908C= (p.Leu970=) c.805C= (p.Leu269=) c.3247C= (p.Leu1083=) c.1567C= (p.Leu523=) | |
| X | g.108626335C>G | CA413855092 | COL4A5 | c.3232C>G (p.Leu1078Val) n.2688C>G c.465C>G c.2908C>G (p.Leu970Val) c.805C>G (p.Leu269Val) c.3247C>G (p.Leu1083Val) c.1567C>G (p.Leu523Val) | |
| X | g.108626335C>T | CA10489049 | COL4A5 | c.3232C>T (p.Leu1078Phe) n.2688C>T c.465C>T c.2908C>T (p.Leu970Phe) c.805C>T (p.Leu269Phe) c.3247C>T (p.Leu1083Phe) c.1567C>T (p.Leu523Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108626336T>A | CA413855093 | COL4A5 | c.3233T>A (p.Leu1078His) n.2689T>A c.466T>A c.2909T>A (p.Leu970His) c.806T>A (p.Leu269His) c.3248T>A (p.Leu1083His) c.1568T>A (p.Leu523His) | |
| X | g.108626336T>C | CA413855094 | COL4A5 | c.3233T>C (p.Leu1078Pro) n.2689T>C c.466T>C c.2909T>C (p.Leu970Pro) c.806T>C (p.Leu269Pro) c.3248T>C (p.Leu1083Pro) c.1568T>C (p.Leu523Pro) | |
| X | g.108626336T>G | CA413855095 | COL4A5 | c.3233T>G (p.Leu1078Arg) n.2689T>G c.466T>G c.2909T>G (p.Leu970Arg) c.806T>G (p.Leu269Arg) c.3248T>G (p.Leu1083Arg) c.1568T>G (p.Leu523Arg) | |
| X | g.108626337T>A | CA517926028 | COL4A5 | c.3234T>A (p.Leu1078=) n.2690T>A c.467T>A c.2910T>A (p.Leu970=) c.807T>A (p.Leu269=) c.3249T>A (p.Leu1083=) c.1569T>A (p.Leu523=) | |
| X | g.108626337T>C | CA517926026 | COL4A5 | c.3234T>C (p.Leu1078=) n.2690T>C c.467T>C c.2910T>C (p.Leu970=) c.807T>C (p.Leu269=) c.3249T>C (p.Leu1083=) c.1569T>C (p.Leu523=) | |
| X | g.108626337T>G | CA517926027 | COL4A5 | c.3234T>G (p.Leu1078=) n.2690T>G c.467T>G c.2910T>G (p.Leu970=) c.807T>G (p.Leu269=) c.3249T>G (p.Leu1083=) c.1569T>G (p.Leu523=) | |
| X | g.108626338C>A | CA413855096 | COL4A5 | c.3235C>A (p.Pro1079Thr) n.2691C>A c.468C>A c.2911C>A (p.Pro971Thr) c.808C>A (p.Pro270Thr) c.3250C>A (p.Pro1084Thr) c.1570C>A (p.Pro524Thr) | |
| X | g.108626338C>G | CA413855097 | COL4A5 | c.3235C>G (p.Pro1079Ala) n.2691C>G c.468C>G c.2911C>G (p.Pro971Ala) c.808C>G (p.Pro270Ala) c.3250C>G (p.Pro1084Ala) c.1570C>G (p.Pro524Ala) | |
| X | g.108626338C>T | CA413855098 | COL4A5 | c.3235C>T (p.Pro1079Ser) n.2691C>T c.468C>T c.2911C>T (p.Pro971Ser) c.808C>T (p.Pro270Ser) c.3250C>T (p.Pro1084Ser) c.1570C>T (p.Pro524Ser) | gnomAD v4 |
| X | g.108626339C>A | CA413855099 | COL4A5 | c.3236C>A (p.Pro1079His) n.2692C>A c.469C>A c.2912C>A (p.Pro971His) c.809C>A (p.Pro270His) c.3251C>A (p.Pro1084His) c.1571C>A (p.Pro524His) | |
| X | g.108626339C>G | CA413855101 | COL4A5 | c.3236C>G (p.Pro1079Arg) n.2692C>G c.469C>G c.2912C>G (p.Pro971Arg) c.809C>G (p.Pro270Arg) c.3251C>G (p.Pro1084Arg) c.1571C>G (p.Pro524Arg) | |
| X | g.108626339C>T | CA413855100 | COL4A5 | c.3236C>T (p.Pro1079Leu) n.2692C>T c.469C>T c.2912C>T (p.Pro971Leu) c.809C>T (p.Pro270Leu) c.3251C>T (p.Pro1084Leu) c.1571C>T (p.Pro524Leu) | |
| X | g.108626340T>A | CA517926030 | COL4A5 | c.3237T>A (p.Pro1079=) n.2693T>A c.470T>A c.2913T>A (p.Pro971=) c.810T>A (p.Pro270=) c.3252T>A (p.Pro1084=) c.1572T>A (p.Pro524=) | |
| X | g.108626340T>C | CA517926031 | COL4A5 | c.3237T>C (p.Pro1079=) n.2693T>C c.470T>C c.2913T>C (p.Pro971=) c.810T>C (p.Pro270=) c.3252T>C (p.Pro1084=) c.1572T>C (p.Pro524=) | |
| X | g.108626340T>G | CA517926032 | COL4A5 | c.3237T>G (p.Pro1079=) n.2693T>G c.470T>G c.2913T>G (p.Pro971=) c.810T>G (p.Pro270=) c.3252T>G (p.Pro1084=) c.1572T>G (p.Pro524=) | ClinVar dbSNP gnomAD v4 |
| X | g.108626341G>A | CA413855102 | COL4A5 | c.3238G>A (p.Gly1080Ser) n.2694G>A c.471G>A c.2914G>A (p.Gly972Ser) c.811G>A (p.Gly271Ser) c.3253G>A (p.Gly1085Ser) c.1573G>A (p.Gly525Ser) | |
| X | g.108626341G>C | CA413855103 | COL4A5 | c.3238G>C (p.Gly1080Arg) n.2694G>C c.471G>C c.2914G>C (p.Gly972Arg) c.811G>C (p.Gly271Arg) c.3253G>C (p.Gly1085Arg) c.1573G>C (p.Gly525Arg) | ClinVar dbSNP |
| X | g.108626341G= | CA2450697628 | COL4A5 | c.3238G= (p.Gly1080=) n.2694G= c.471G= c.2914G= (p.Gly972=) c.811G= (p.Gly271=) c.3253G= (p.Gly1085=) c.1573G= (p.Gly525=) | |
| X | g.108626341G>T | CA413855104 | COL4A5 | c.3238G>T (p.Gly1080Cys) n.2694G>T c.471G>T c.2914G>T (p.Gly972Cys) c.811G>T (p.Gly271Cys) c.3253G>T (p.Gly1085Cys) c.1573G>T (p.Gly525Cys) | |
| X | g.108626342G>A | CA413855105 | COL4A5 | c.3239G>A (p.Gly1080Asp) n.2695G>A c.472G>A c.2915G>A (p.Gly972Asp) c.812G>A (p.Gly271Asp) c.3254G>A (p.Gly1085Asp) c.1574G>A (p.Gly525Asp) | |
| X | g.108626342G>C | CA413855106 | COL4A5 | c.3239G>C (p.Gly1080Ala) n.2695G>C c.472G>C c.2915G>C (p.Gly972Ala) c.812G>C (p.Gly271Ala) c.3254G>C (p.Gly1085Ala) c.1574G>C (p.Gly525Ala) | |
| X | g.108626342G>T | CA413855107 | COL4A5 | c.3239G>T (p.Gly1080Val) n.2695G>T c.472G>T c.2915G>T (p.Gly972Val) c.812G>T (p.Gly271Val) c.3254G>T (p.Gly1085Val) c.1574G>T (p.Gly525Val) | |
| X | g.108626343T>A | CA10489050 | COL4A5 | c.3240T>A (p.Gly1080=) n.2696T>A c.473T>A c.2916T>A (p.Gly972=) c.813T>A (p.Gly271=) c.3255T>A (p.Gly1085=) c.1575T>A (p.Gly525=) | dbSNP ExAC gnomAD v4 |
| X | g.108626343T>C | CA517926034 | COL4A5 | c.3240T>C (p.Gly1080=) n.2696T>C c.473T>C c.2916T>C (p.Gly972=) c.813T>C (p.Gly271=) c.3255T>C (p.Gly1085=) c.1575T>C (p.Gly525=) | |
| X | g.108626343T>G | CA517926033 | COL4A5 | c.3240T>G (p.Gly1080=) n.2696T>G c.473T>G c.2916T>G (p.Gly972=) c.813T>G (p.Gly271=) c.3255T>G (p.Gly1085=) c.1575T>G (p.Gly525=) | |
| X | g.108626343T= | CA2450697632 | COL4A5 | c.3240T= (p.Gly1080=) n.2696T= c.473T= c.2916T= (p.Gly972=) c.813T= (p.Gly271=) c.3255T= (p.Gly1085=) c.1575T= (p.Gly525=) | |
| X | g.108626344C>A | CA413855108 | COL4A5 | c.3241C>A (p.Pro1081Thr) n.2697C>A c.474C>A c.2917C>A (p.Pro973Thr) c.814C>A (p.Pro272Thr) c.3256C>A (p.Pro1086Thr) c.1576C>A (p.Pro526Thr) | gnomAD v4 |
| X | g.108626344C>G | CA413855109 | COL4A5 | c.3241C>G (p.Pro1081Ala) n.2697C>G c.474C>G c.2917C>G (p.Pro973Ala) c.814C>G (p.Pro272Ala) c.3256C>G (p.Pro1086Ala) c.1576C>G (p.Pro526Ala) | ClinVar |
| X | g.108626344C>T | CA413855110 | COL4A5 | c.3241C>T (p.Pro1081Ser) n.2697C>T c.474C>T c.2917C>T (p.Pro973Ser) c.814C>T (p.Pro272Ser) c.3256C>T (p.Pro1086Ser) c.1576C>T (p.Pro526Ser) | |
| X | g.108626345C>A | CA413855112 | COL4A5 | c.3242C>A (p.Pro1081Gln) n.2698C>A c.475C>A c.2918C>A (p.Pro973Gln) c.815C>A (p.Pro272Gln) c.3257C>A (p.Pro1086Gln) c.1577C>A (p.Pro526Gln) | |
| X | g.108626345C>G | CA413855113 | COL4A5 | c.3242C>G (p.Pro1081Arg) n.2698C>G c.475C>G c.2918C>G (p.Pro973Arg) c.815C>G (p.Pro272Arg) c.3257C>G (p.Pro1086Arg) c.1577C>G (p.Pro526Arg) | |
| X | g.108626345C>T | CA413855111 | COL4A5 | c.3242C>T (p.Pro1081Leu) n.2698C>T c.475C>T c.2918C>T (p.Pro973Leu) c.815C>T (p.Pro272Leu) c.3257C>T (p.Pro1086Leu) c.1577C>T (p.Pro526Leu) | COSMIC COSMIC |
| X | g.108626346A>C | CA517926038 | COL4A5 | c.3243A>C (p.Pro1081=) n.2699A>C c.476A>C c.2919A>C (p.Pro973=) c.816A>C (p.Pro272=) c.3258A>C (p.Pro1086=) c.1578A>C (p.Pro526=) | |
| X | g.108626346A>G | CA517926039 | COL4A5 | c.3243A>G (p.Pro1081=) n.2699A>G c.476A>G c.2919A>G (p.Pro973=) c.816A>G (p.Pro272=) c.3258A>G (p.Pro1086=) c.1578A>G (p.Pro526=) | ClinVar |
| X | g.108626346A>T | CA517926040 | COL4A5 | c.3243A>T (p.Pro1081=) n.2699A>T c.476A>T c.2919A>T (p.Pro973=) c.816A>T (p.Pro272=) c.3258A>T (p.Pro1086=) c.1578A>T (p.Pro526=) | |
| X | g.108626347A= | CA2450697636 | COL4A5 | c.3244A= (p.Lys1082=) n.2700A= c.477A= c.2920A= (p.Lys974=) c.817A= (p.Lys273=) c.3259A= (p.Lys1087=) c.1579A= (p.Lys527=) | |
| X | g.108626347A>C | CA413855114 | COL4A5 | c.3244A>C (p.Lys1082Gln) n.2700A>C c.477A>C c.2920A>C (p.Lys974Gln) c.817A>C (p.Lys273Gln) c.3259A>C (p.Lys1087Gln) c.1579A>C (p.Lys527Gln) | |
| X | g.108626347A>G | CA413855115 | COL4A5 | c.3244A>G (p.Lys1082Glu) n.2700A>G c.477A>G c.2920A>G (p.Lys974Glu) c.817A>G (p.Lys273Glu) c.3259A>G (p.Lys1087Glu) c.1579A>G (p.Lys527Glu) | |
| X | g.108626347A>T | CA413855116 | COL4A5 | c.3244A>T (p.Lys1082Ter) n.2700A>T c.477A>T c.2920A>T (p.Lys974Ter) c.817A>T (p.Lys273Ter) c.3259A>T (p.Lys1087Ter) c.1579A>T (p.Lys527Ter) | ClinVar dbSNP |
| X | g.108626348A>C | CA413855117 | COL4A5 | c.3245A>C (p.Lys1082Thr) n.2701A>C c.478A>C c.2921A>C (p.Lys974Thr) c.818A>C (p.Lys273Thr) c.3260A>C (p.Lys1087Thr) c.1580A>C (p.Lys527Thr) | |
| X | g.108626348A>G | CA413855118 | COL4A5 | c.3245A>G (p.Lys1082Arg) n.2701A>G c.478A>G c.2921A>G (p.Lys974Arg) c.818A>G (p.Lys273Arg) c.3260A>G (p.Lys1087Arg) c.1580A>G (p.Lys527Arg) | |
| X | g.108626348A>T | CA413855119 | COL4A5 | c.3245A>T (p.Lys1082Met) n.2701A>T c.478A>T c.2921A>T (p.Lys974Met) c.818A>T (p.Lys273Met) c.3260A>T (p.Lys1087Met) c.1580A>T (p.Lys527Met) | |
| X | g.108626349G>A | CA517926042 | COL4A5 | c.3246G>A (p.Lys1082=) n.2702G>A c.479G>A c.2922G>A (p.Lys974=) c.819G>A (p.Lys273=) c.3261G>A (p.Lys1087=) c.1581G>A (p.Lys527=) | |
| X | g.108626349G>C | CA413855120 | COL4A5 | c.3246G>C (p.Lys1082Asn) n.2702G>C c.479G>C c.2922G>C (p.Lys974Asn) c.819G>C (p.Lys273Asn) c.3261G>C (p.Lys1087Asn) c.1581G>C (p.Lys527Asn) | |
| X | g.108626349G>T | CA413855121 | COL4A5 | c.3246G>T (p.Lys1082Asn) n.2702G>T c.479G>T c.2922G>T (p.Lys974Asn) c.819G>T (p.Lys273Asn) c.3261G>T (p.Lys1087Asn) c.1581G>T (p.Lys527Asn) | |
| X | g.108626350G>A | CA413855122 | COL4A5 | c.3246+1G>A (n.3246+1G>A) n.2703G>A c.479+1G>A c.2922+1G>A (n.2922+1G>A) c.819+1G>A (n.819+1G>A) c.3261+1G>A (n.3261+1G>A) c.1581+1G>A (n.1581+1G>A) | ClinVar dbSNP |
| X | g.108626350G>C | CA413855123 | COL4A5 | c.3246+1G>C (n.3246+1G>C) n.2703G>C c.479+1G>C c.2922+1G>C (n.2922+1G>C) c.819+1G>C (n.819+1G>C) c.3261+1G>C (n.3261+1G>C) c.1581+1G>C (n.1581+1G>C) | |
| X | g.108626350G= | CA2450697641 | COL4A5 | c.3246+1G= (n.3246+1G=) n.2703G= c.479+1G= c.2922+1G= (n.2922+1G=) c.819+1G= (n.819+1G=) c.3261+1G= (n.3261+1G=) c.1581+1G= (n.1581+1G=) | |
| X | g.108626350G>T | CA413855124 | COL4A5 | c.3246+1G>T (n.3246+1G>T) n.2703G>T c.479+1G>T c.2922+1G>T (n.2922+1G>T) c.819+1G>T (n.819+1G>T) c.3261+1G>T (n.3261+1G>T) c.1581+1G>T (n.1581+1G>T) | |
| X | g.108626351T>A | CA413855125 | COL4A5 | c.3246+2T>A (n.3246+2T>A) n.2704T>A c.479+2T>A c.2922+2T>A (n.2922+2T>A) c.819+2T>A (n.819+2T>A) c.3261+2T>A (n.3261+2T>A) c.1581+2T>A (n.1581+2T>A) | |
| X | g.108626351T>C | CA413855126 | COL4A5 | c.3246+2T>C (n.3246+2T>C) n.2704T>C c.479+2T>C c.2922+2T>C (n.2922+2T>C) c.819+2T>C (n.819+2T>C) c.3261+2T>C (n.3261+2T>C) c.1581+2T>C (n.1581+2T>C) | |
| X | g.108626351T>G | CA413855127 | COL4A5 | c.3246+2T>G (n.3246+2T>G) n.2704T>G c.479+2T>G c.2922+2T>G (n.2922+2T>G) c.819+2T>G (n.819+2T>G) c.3261+2T>G (n.3261+2T>G) c.1581+2T>G (n.1581+2T>G) | |
| X | g.108626352A>C | CA2573159108 | COL4A5 | c.3246+3A>C (n.3246+3A>C) n.2705A>C c.479+3A>C c.2922+3A>C (n.2922+3A>C) c.819+3A>C (n.819+3A>C) c.3261+3A>C (n.3261+3A>C) c.1581+3A>C (n.1581+3A>C) | ClinVar dbSNP |
| X | g.108626354T>A | CA2694440645 | COL4A5 | c.3246+5T>A (n.3246+5T>A) n.2707T>A c.479+5T>A c.2922+5T>A (n.2922+5T>A) c.819+5T>A (n.819+5T>A) c.3261+5T>A (n.3261+5T>A) c.1581+5T>A (n.1581+5T>A) | gnomAD v4 |
| X | g.108626355C>T | CA2579676670 | COL4A5 | c.3246+6C>T (n.3246+6C>T) n.2708C>T c.479+6C>T c.2922+6C>T (n.2922+6C>T) c.819+6C>T (n.819+6C>T) c.3261+6C>T (n.3261+6C>T) c.1581+6C>T (n.1581+6C>T) | |
| X | g.108626356T>C | CA334052691 | COL4A5 | c.3246+7T>C (n.3246+7T>C) n.2709T>C c.479+7T>C c.2922+7T>C (n.2922+7T>C) c.819+7T>C (n.819+7T>C) c.3261+7T>C (n.3261+7T>C) c.1581+7T>C (n.1581+7T>C) | dbSNP |
| X | g.108626356T= | CA2450697644 | COL4A5 | c.3246+7T= (n.3246+7T=) n.2709T= c.479+7T= c.2922+7T= (n.2922+7T=) c.819+7T= (n.819+7T=) c.3261+7T= (n.3261+7T=) c.1581+7T= (n.1581+7T=) | |
| X | g.108626357T>C | CA2450697647 | COL4A5 | c.3246+8T>C (n.3246+8T>C) n.2710T>C c.479+8T>C c.2922+8T>C (n.2922+8T>C) c.819+8T>C (n.819+8T>C) c.3261+8T>C (n.3261+8T>C) c.1581+8T>C (n.1581+8T>C) | ClinVar dbSNP |
| X | g.108626357T= | CA2450697646 | COL4A5 | c.3246+8T= (n.3246+8T=) n.2710T= c.479+8T= c.2922+8T= (n.2922+8T=) c.819+8T= (n.819+8T=) c.3261+8T= (n.3261+8T=) c.1581+8T= (n.1581+8T=) | |
| X | g.108626358T>C | CA2694440646 | COL4A5 | c.3246+9T>C (n.3246+9T>C) n.2711T>C c.479+9T>C c.2922+9T>C (n.2922+9T>C) c.819+9T>C (n.819+9T>C) c.3261+9T>C (n.3261+9T>C) c.1581+9T>C (n.1581+9T>C) | ClinVar gnomAD v4 |
| X | g.108626359G>A | CA334052692 | COL4A5 | c.3246+10G>A (n.3246+10G>A) n.2712G>A c.479+10G>A c.2922+10G>A (n.2922+10G>A) c.819+10G>A (n.819+10G>A) c.3261+10G>A (n.3261+10G>A) c.1581+10G>A (n.1581+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108626359G= | CA2450697648 | COL4A5 | c.3246+10G= (n.3246+10G=) n.2712G= c.479+10G= c.2922+10G= (n.2922+10G=) c.819+10G= (n.819+10G=) c.3261+10G= (n.3261+10G=) c.1581+10G= (n.1581+10G=) | |
| X | g.108626360G= | CA2450697650 | COL4A5 | c.3246+11G= (n.3246+11G=) n.2713G= c.479+11G= c.2922+11G= (n.2922+11G=) c.819+11G= (n.819+11G=) c.3261+11G= (n.3261+11G=) c.1581+11G= (n.1581+11G=) | |
| X | g.108626360G>T | CA869816560 | COL4A5 | c.3246+11G>T (n.3246+11G>T) n.2713G>T c.479+11G>T c.2922+11G>T (n.2922+11G>T) c.819+11G>T (n.819+11G>T) c.3261+11G>T (n.3261+11G>T) c.1581+11G>T (n.1581+11G>T) | dbSNP |
| X | g.108626362A= | CA2450697652 | COL4A5 | c.3246+13A= (n.3246+13A=) n.2715A= c.479+13A= c.2922+13A= (n.2922+13A=) c.819+13A= (n.819+13A=) c.3261+13A= (n.3261+13A=) c.1581+13A= (n.1581+13A=) | |
| X | g.108626362A>G | CA2450697653 | COL4A5 | c.3246+13A>G (n.3246+13A>G) n.2715A>G c.479+13A>G c.2922+13A>G (n.2922+13A>G) c.819+13A>G (n.819+13A>G) c.3261+13A>G (n.3261+13A>G) c.1581+13A>G (n.1581+13A>G) | dbSNP |
| X | g.108626362A>T | CA2694440647 | COL4A5 | c.3246+13A>T (n.3246+13A>T) n.2715A>T c.479+13A>T c.2922+13A>T (n.2922+13A>T) c.819+13A>T (n.819+13A>T) c.3261+13A>T (n.3261+13A>T) c.1581+13A>T (n.1581+13A>T) | gnomAD v4 |
| X | g.108626364A= | CA2450697654 | COL4A5 | c.3246+15A= (n.3246+15A=) n.2717A= c.479+15A= c.2922+15A= (n.2922+15A=) c.819+15A= (n.819+15A=) c.3261+15A= (n.3261+15A=) c.1581+15A= (n.1581+15A=) | |
| X | g.108626364A>G | CA10489051 | COL4A5 | c.3246+15A>G (n.3246+15A>G) n.2717A>G c.479+15A>G c.2922+15A>G (n.2922+15A>G) c.819+15A>G (n.819+15A>G) c.3261+15A>G (n.3261+15A>G) c.1581+15A>G (n.1581+15A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108626366A= | CA2450697659 | COL4A5 | c.3246+17A= (n.3246+17A=) n.2719A= c.479+17A= c.2922+17A= (n.2922+17A=) c.819+17A= (n.819+17A=) c.3261+17A= (n.3261+17A=) c.1581+17A= (n.1581+17A=) | |
| X | g.108626366A>G | CA658421260 | COL4A5 | c.3246+17A>G (n.3246+17A>G) n.2719A>G c.479+17A>G c.2922+17A>G (n.2922+17A>G) c.819+17A>G (n.819+17A>G) c.3261+17A>G (n.3261+17A>G) c.1581+17A>G (n.1581+17A>G) | gnomAD v4 COSMIC |
| X | g.108626366A>T | CA643630910 | COL4A5 | c.3246+17A>T (n.3246+17A>T) n.2719A>T c.479+17A>T c.2922+17A>T (n.2922+17A>T) c.819+17A>T (n.819+17A>T) c.3261+17A>T (n.3261+17A>T) c.1581+17A>T (n.1581+17A>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108626371del | CA2579676671 | COL4A5 | c.3246+22del (n.3246+22del) n.2724del c.479+22del c.2922+22del (n.2922+22del) c.819+22del (n.819+22del) c.3261+22del (n.3261+22del) c.1581+22del (n.1581+22del) | |
| X | g.108626369T>A | CA2450697662 | COL4A5 | c.3246+20T>A (n.3246+20T>A) n.2722T>A c.479+20T>A c.2922+20T>A (n.2922+20T>A) c.819+20T>A (n.819+20T>A) c.3261+20T>A (n.3261+20T>A) c.1581+20T>A (n.1581+20T>A) | dbSNP |
| X | g.108626369T= | CA2450697663 | COL4A5 | c.3246+20T= (n.3246+20T=) n.2722T= c.479+20T= c.2922+20T= (n.2922+20T=) c.819+20T= (n.819+20T=) c.3261+20T= (n.3261+20T=) c.1581+20T= (n.1581+20T=) | |
| X | g.108626371T>A | CA2531529598 | COL4A5 | c.3246+22T>A (n.3246+22T>A) n.2724T>A c.479+22T>A c.2922+22T>A (n.2922+22T>A) c.819+22T>A (n.819+22T>A) c.3261+22T>A (n.3261+22T>A) c.1581+22T>A (n.1581+22T>A) | |
| X | g.108626372A= | CA2450697666 | COL4A5 | c.3246+23A= (n.3246+23A=) n.2725A= c.479+23A= c.2922+23A= (n.2922+23A=) c.819+23A= (n.819+23A=) c.3261+23A= (n.3261+23A=) c.1581+23A= (n.1581+23A=) | |
| X | g.108626372A>C | CA869816563 | COL4A5 | c.3246+23A>C (n.3246+23A>C) n.2725A>C c.479+23A>C c.2922+23A>C (n.2922+23A>C) c.819+23A>C (n.819+23A>C) c.3261+23A>C (n.3261+23A>C) c.1581+23A>C (n.1581+23A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108626375C>A | CA2694440648 | COL4A5 | c.3246+26C>A (n.3246+26C>A) n.2728C>A c.479+26C>A c.2922+26C>A (n.2922+26C>A) c.819+26C>A (n.819+26C>A) c.3261+26C>A (n.3261+26C>A) c.1581+26C>A (n.1581+26C>A) | gnomAD v4 |
| X | g.108626376A= | CA2450697668 | COL4A5 | c.3246+27A= (n.3246+27A=) n.2729A= c.479+27A= c.2922+27A= (n.2922+27A=) c.819+27A= (n.819+27A=) c.3261+27A= (n.3261+27A=) c.1581+27A= (n.1581+27A=) | |
| X | g.108626376A>G | CA2450697669 | COL4A5 | c.3246+27A>G (n.3246+27A>G) n.2729A>G c.479+27A>G c.2922+27A>G (n.2922+27A>G) c.819+27A>G (n.819+27A>G) c.3261+27A>G (n.3261+27A>G) c.1581+27A>G (n.1581+27A>G) | dbSNP |
| X | g.108626380A>T | CA2579676672 | COL4A5 | c.3246+31A>T (n.3246+31A>T) n.2733A>T c.479+31A>T c.2922+31A>T (n.2922+31A>T) c.819+31A>T (n.819+31A>T) c.3261+31A>T (n.3261+31A>T) c.1581+31A>T (n.1581+31A>T) | gnomAD v4 |
| X | g.108626381C>T | CA2738910773 | COL4A5 | c.3246+32C>T (n.3246+32C>T) n.2734C>T c.479+32C>T c.2922+32C>T (n.2922+32C>T) c.819+32C>T (n.819+32C>T) c.3261+32C>T (n.3261+32C>T) c.1581+32C>T (n.1581+32C>T) | dbSNP |