UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |