| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |