Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.134817648_134817705dup | CA591110286 | COL5A1 | c.4177-130_4177-73dup (n.4177-130_4177-73dup) n.4579-130_4579-73dup n.4575-130_4575-73dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817648_134817705del | CA591110284 | COL5A1 | c.4177-130_4177-73del (n.4177-130_4177-73del) n.4579-130_4579-73del n.4575-130_4575-73del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817648_134817706delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG | CA1883367709 | COL5A1 | c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG (n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG) n.4579-130_4579-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG n.4575-130_4575-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG | |
9 | g.134817671_134817728dup | CA591110292 | COL5A1 | c.4177-107_4177-50dup (n.4177-107_4177-50dup) n.4579-107_4579-50dup n.4575-107_4575-50dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817671_134817728del | CA591110288 | COL5A1 | c.4177-107_4177-50del (n.4177-107_4177-50del) n.4579-107_4579-50del n.4575-107_4575-50del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817670_134817704delinsCTGCCCCTGCAGGCCACACACACACACACCCTGAG | CA1883367737 | COL5A1 | c.4177-108_4177-74delinsCTGCCCCTGCAGGCCACACACACACACACCCTGAG (n.4177-108_4177-74delinsCTGCCCCTGCAGGCCACACACACACACACCCTGAG) n.4579-108_4579-74delinsCTGCCCCTGCAGGCCACACACACACACACCCTGAG n.4575-108_4575-74delinsCTGCCCCTGCAGGCCACACACACACACACCCTGAG | |
9 | g.134817671_134817704del | CA591110296 | COL5A1 | c.4177-107_4177-74del (n.4177-107_4177-74del) n.4579-107_4579-74del n.4575-107_4575-74del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817705_134817706insACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGC | CA1129887625 | COL5A1 | c.4177-73_4177-72insACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGC (n.4177-73_4177-72insACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGC) n.4579-73_4579-72insACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGC n.4575-73_4575-72insACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGC | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134817729_134817730insGCCCCTGCAGGCCACACTCACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC | CA2692443930 | COL5A1 | c.4177-49_4177-48insGCCCCTGCAGGCCACACTCACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC (n.4177-49_4177-48insGCCCCTGCAGGCCACACTCACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC) n.4579-49_4579-48insGCCCCTGCAGGCCACACTCACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC n.4575-49_4575-48insGCCCCTGCAGGCCACACTCACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC | gnomAD v4 |
9 | g.134817729_134817730insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC | CA1129887602 | COL5A1 | c.4177-49_4177-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC (n.4177-49_4177-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC) n.4579-49_4579-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC n.4575-49_4575-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC | gnomAD v3 gnomAD v4 |
9 | g.134817672_134817729dup | CA591110303 | COL5A1 | c.4177-106_4177-49dup (n.4177-106_4177-49dup) n.4579-106_4579-49dup n.4575-106_4575-49dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817672_134817730delinsGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCA | CA1883367744 | COL5A1 | c.4177-106_4177-48delinsGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCA (n.4177-106_4177-48delinsGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCA) n.4579-106_4579-48delinsGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCA n.4575-106_4575-48delinsGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCA | |
9 | g.134817689_134817746dup | CA1129887638 | COL5A1 | c.4177-89_4177-32dup (n.4177-89_4177-32dup) n.4579-89_4579-32dup n.4575-89_4575-32dup | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134817689_134817746del | CA591110305 | COL5A1 | c.4177-89_4177-32del (n.4177-89_4177-32del) n.4579-89_4579-32del n.4575-89_4575-32del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817705_134817706insACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC | CA2692444023 | COL5A1 | c.4177-73_4177-72insACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC (n.4177-73_4177-72insACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC) n.4579-73_4579-72insACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC n.4575-73_4575-72insACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC | gnomAD v4 |
9 | g.134817705_134817706insACCTGCACCTGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC | CA2692444025 | COL5A1 | c.4177-73_4177-72insACCTGCACCTGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC (n.4177-73_4177-72insACCTGCACCTGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC) n.4579-73_4579-72insACCTGCACCTGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC n.4575-73_4575-72insACCTGCACCTGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACCCTGAGC | gnomAD v4 |
9 | g.134817728_134817729insTGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTC | CA2692444021 | COL5A1 | c.4177-50_4177-49insTGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTC (n.4177-50_4177-49insTGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTC) n.4579-50_4579-49insTGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTC n.4575-50_4575-49insTGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTC | gnomAD v4 |
9 | g.134817729_134817730insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC | CA2692444020 | COL5A1 | c.4177-49_4177-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC (n.4177-49_4177-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC) n.4579-49_4579-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC n.4575-49_4575-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCCGCCCCTGCAGGCCACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCC | gnomAD v4 |
9 | g.134817691_134817746dup | CA2692444024 | COL5A1 | c.4177-87_4177-32dup (n.4177-87_4177-32dup) n.4579-87_4579-32dup n.4575-87_4575-32dup | gnomAD v4 |
9 | g.134817693_134817750del | CA2692444032 | COL5A1 | c.4177-85_4177-28del (n.4177-85_4177-28del) n.4579-85_4579-28del n.4575-85_4575-28del | gnomAD v4 |
9 | g.134817704G>A | CA2579507220 | COL5A1 | c.4177-74G>A (n.4177-74G>A) n.4579-74G>A n.4575-74G>A | gnomAD v4 |
9 | g.134817704G>T | CA2692444070 | COL5A1 | c.4177-74G>T (n.4177-74G>T) n.4579-74G>T n.4575-74G>T | gnomAD v4 |
9 | g.134817705C>A | CA2692444072 | COL5A1 | c.4177-73C>A (n.4177-73C>A) n.4579-73C>A n.4575-73C>A | gnomAD v4 |
9 | g.134817705C= | CA1883367775 | COL5A1 | c.4177-73C= (n.4177-73C=) n.4579-73C= n.4575-73C= | |
9 | g.134817705C>T | CA201092158 | COL5A1 | c.4177-73C>T (n.4177-73C>T) n.4579-73C>T n.4575-73C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134817706G>A | CA201092160 | COL5A1 | c.4177-72G>A (n.4177-72G>A) n.4579-72G>A n.4575-72G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817706G= | CA1883367777 | COL5A1 | c.4177-72G= (n.4177-72G=) n.4579-72G= n.4575-72G= | |
9 | g.134817706G>T | CA2579507221 | COL5A1 | c.4177-72G>T (n.4177-72G>T) n.4579-72G>T n.4575-72G>T | gnomAD v4 |
9 | g.134817706_134817730delinsGCCTGCACCCGAGCTCGTCCCTCCA | CA1883367778 | COL5A1 | c.4177-72_4177-48delinsGCCTGCACCCGAGCTCGTCCCTCCA (n.4177-72_4177-48delinsGCCTGCACCCGAGCTCGTCCCTCCA) n.4579-72_4579-48delinsGCCTGCACCCGAGCTCGTCCCTCCA n.4575-72_4575-48delinsGCCTGCACCCGAGCTCGTCCCTCCA | |
9 | g.134817707C>A | CA2692444079 | COL5A1 | c.4177-71C>A (n.4177-71C>A) n.4579-71C>A n.4575-71C>A | gnomAD v4 |
9 | g.134817707C= | CA1883367780 | COL5A1 | c.4177-71C= (n.4177-71C=) n.4579-71C= n.4575-71C= | |
9 | g.134817707C>G | CA2692444080 | COL5A1 | c.4177-71C>G (n.4177-71C>G) n.4579-71C>G n.4575-71C>G | gnomAD v4 |
9 | g.134817707C>T | CA591110314 | COL5A1 | c.4177-71C>T (n.4177-71C>T) n.4579-71C>T n.4575-71C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817728_134817729insTGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTC | CA1129887682 | COL5A1 | c.4177-50_4177-49insTGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTC (n.4177-50_4177-49insTGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTC) n.4579-50_4579-49insTGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTC n.4575-50_4575-49insTGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTC | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134817729_134817730insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCC | CA2692444076 | COL5A1 | c.4177-49_4177-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCC (n.4177-49_4177-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCC) n.4579-49_4579-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCC n.4575-49_4575-48insGCCCCTGCAGGCCACACACACACACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCC | gnomAD v4 |
9 | g.134817709_134817732del | CA591110312 | COL5A1 | c.4177-69_4177-46del (n.4177-69_4177-46del) n.4579-69_4579-46del n.4575-69_4575-46del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134817708C>A | CA2692444083 | COL5A1 | c.4177-70C>A (n.4177-70C>A) n.4579-70C>A n.4575-70C>A | gnomAD v4 |
9 | g.134817708C>T | CA2579507222 | COL5A1 | c.4177-70C>T (n.4177-70C>T) n.4579-70C>T n.4575-70C>T | gnomAD v4 |
9 | g.134817709T>C | CA2692444085 | COL5A1 | c.4177-69T>C (n.4177-69T>C) n.4579-69T>C n.4575-69T>C | gnomAD v4 |
9 | g.134817709T>G | CA2692444087 | COL5A1 | c.4177-69T>G (n.4177-69T>G) n.4579-69T>G n.4575-69T>G | gnomAD v4 |
9 | g.134817710G>A | CA2692444089 | COL5A1 | c.4177-68G>A (n.4177-68G>A) n.4579-68G>A n.4575-68G>A | gnomAD v4 |
9 | g.134817710G>T | CA2692444090 | COL5A1 | c.4177-68G>T (n.4177-68G>T) n.4579-68G>T n.4575-68G>T | gnomAD v4 |
9 | g.134817711C>A | CA2692444091 | COL5A1 | c.4177-67C>A (n.4177-67C>A) n.4579-67C>A n.4575-67C>A | gnomAD v4 |
9 | g.134817711C= | CA1883367782 | COL5A1 | c.4177-67C= (n.4177-67C=) n.4579-67C= n.4575-67C= | |
9 | g.134817711C>T | CA201092163 | COL5A1 | c.4177-67C>T (n.4177-67C>T) n.4579-67C>T n.4575-67C>T | dbSNP gnomAD v4 |
9 | g.134817713C>A | CA2692444093 | COL5A1 | c.4177-65C>A (n.4177-65C>A) n.4579-65C>A n.4575-65C>A | gnomAD v4 |
9 | g.134817713C>T | CA2692444095 | COL5A1 | c.4177-65C>T (n.4177-65C>T) n.4579-65C>T n.4575-65C>T | gnomAD v4 |
9 | g.134817714C>A | CA2692444096 | COL5A1 | c.4177-64C>A (n.4177-64C>A) n.4579-64C>A n.4575-64C>A | gnomAD v4 |
9 | g.134817715C>A | CA2692444097 | COL5A1 | c.4177-63C>A (n.4177-63C>A) n.4579-63C>A n.4575-63C>A | gnomAD v4 |
9 | g.134817715C= | CA1883367784 | COL5A1 | c.4177-63C= (n.4177-63C=) n.4579-63C= n.4575-63C= |