| 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.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) |