Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.134843163_134843169del | CA2536354765 | COL5A1 | c.*860_*866del (n.*860_*866del) n.71-22960_71-22954del | |
9 | g.134843168_134843169delinsTA | CA1883397498 | COL5A1 | c.*865_*866delinsTA (n.*865_*866delinsTA) n.71-22960_71-22959delinsTA | |
9 | g.134843169A= | CA1883397500 | COL5A1 | c.*866A= (n.*866A=) n.71-22960T= | |
9 | g.134843169A>C | CA2692462637 | COL5A1 | c.*866A>C (n.*866A>C) n.71-22960T>G | gnomAD v4 |
9 | g.134843169A>T | CA860893879 | COL5A1 | c.*866A>T (n.*866A>T) n.71-22960T>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134843169_134843170del | CA591117570 | COL5A1 | c.*866_*867del (n.*866_*867del) n.71-22961_71-22960del | gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134843170dup | CA2519745239 | COL5A1 | c.*867dup (n.*867dup) n.71-22960dup | |
9 | g.134843170del | CA860893882 | COL5A1 | c.*867del (n.*867del) n.71-22960del | dbSNP |
9 | g.134843169_134843189del | CA1129894896 | COL5A1 | c.*866_*886del (n.*866_*886del) n.71-22980_71-22960del | |
9 | g.134843169_134843194del | CA1129894897 | COL5A1 | c.*866_*891del (n.*866_*891del) n.71-22985_71-22960del | |
9 | g.134843169_134843170insTAG | CA10626838 | COL5A1 | c.*866_*867insTAG (n.*866_*867insTAG) n.71-22961_71-22960insCTA | ClinVar dbSNP |
9 | g.134843170A= | CA1883397506 | COL5A1 | c.*867A= (n.*867A=) n.71-22961T= | |
9 | g.134843170A>G | CA2603696095 | COL5A1 | c.*867A>G (n.*867A>G) n.71-22961T>C | gnomAD v3 gnomAD v4 |
9 | g.134843170A>T | CA1129894906 | COL5A1 | c.*867A>T (n.*867A>T) n.71-22961T>A | gnomAD v3 gnomAD v4 |
9 | g.134843170_134843171insGG | CA2517390811 | COL5A1 | c.*867_*868insGG (n.*867_*868insGG) n.71-22962_71-22961insCC | |
9 | g.134843170_134843171insCAGG | CA1883397515 | COL5A1 | c.*867_*868insCAGG (n.*867_*868insCAGG) n.71-22962_71-22961insCCTG | dbSNP |
9 | g.134843170_134843171insGAGG | CA2692462638 | COL5A1 | c.*867_*868insGAGG (n.*867_*868insGAGG) n.71-22962_71-22961insCCTC | gnomAD v4 |
9 | g.134843170_134843171insATAGG | CA10626839 | COL5A1 | c.*867_*868insATAGG (n.*867_*868insATAGG) n.71-22962_71-22961insCCTAT | ClinVar dbSNP |
9 | g.134843171T>G | CA1883397514 | COL5A1 | c.*868T>G (n.*868T>G) n.71-22962A>C | dbSNP gnomAD v4 |
9 | g.134843171T= | CA1883397512 | COL5A1 | c.*868T= (n.*868T=) n.71-22962A= | |
9 | g.134843171_134843172insTTTGGT | CA591117572 | COL5A1 | c.*868_*869insTTTGGT (n.*868_*869insTTTGGT) n.71-22962_71-22961insCCAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134843171_134843172insGGG | CA2720500435 | COL5A1 | c.*868_*869insGGG (n.*868_*869insGGG) n.71-22963_71-22962insCCC | dbSNP |
9 | g.134843171_134843172insTGGG | CA1129894932 | COL5A1 | c.*868_*869insTGGG (n.*868_*869insTGGG) n.71-22963_71-22962insCCCA | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134843171_134843172insTTTG | CA2786219009 | COL5A1 | c.*868_*869insTTTG (n.*868_*869insTTTG) n.71-22963_71-22962insCAAA | |
9 | g.134843171_134843172insTAGGG | CA1129894926 | COL5A1 | c.*868_*869insTAGGG (n.*868_*869insTAGGG) n.71-22963_71-22962insCCCTA | gnomAD v3 gnomAD v4 |
9 | g.134843171_134843172insTTAGGG | CA1129894924 | COL5A1 | c.*868_*869insTTAGGG (n.*868_*869insTTAGGG) n.71-22963_71-22962insCCCTAA | gnomAD v3 gnomAD v4 |
9 | g.134843171_134843172insTTTGGG | CA1129894923 | COL5A1 | c.*868_*869insTTTGGG (n.*868_*869insTTTGGG) n.71-22963_71-22962insCCCAAA | gnomAD v3 gnomAD v4 |
9 | g.134843172A= | CA1883397518 | COL5A1 | c.*869A= (n.*869A=) n.71-22963T= | |
9 | g.134843172A>T | CA591117573 | COL5A1 | c.*869A>T (n.*869A>T) n.71-22963T>A | gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134843173_134843174insAGAG | CA1129894929 | COL5A1 | c.*870_*871insAGAG (n.*870_*871insAGAG) n.71-22963_71-22962insCTCT | gnomAD v3 gnomAD v4 |
9 | g.134843173_134843174insTGAG | CA2786219010 | COL5A1 | c.*870_*871insTGAG (n.*870_*871insTGAG) n.71-22963_71-22962insCACT | |
9 | g.134843173_134843176dup | CA10626849 | COL5A1 | c.*870_*873dup (n.*870_*873dup) n.71-22966_71-22963dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
9 | g.134843173_134843180del | CA1129894922 | COL5A1 | c.*870_*877del (n.*870_*877del) n.71-22970_71-22963del | gnomAD v3 gnomAD v4 |
9 | g.134843172_134843173insAGGG | CA201120804 | COL5A1 | c.*869_*870insAGGG (n.*869_*870insAGGG) n.71-22964_71-22963insCCCT | dbSNP |
9 | g.134843173G= | CA1883397523 | COL5A1 | c.*870G= (n.*870G=) n.71-22964C= | |
9 | g.134843173G>T | CA1129894944 | COL5A1 | c.*870G>T (n.*870G>T) n.71-22964C>A | gnomAD v3 gnomAD v4 |
9 | g.134843175_134843176insCGGG | CA918574330 | COL5A1 | c.*872_*873insCGGG (n.*872_*873insCGGG) n.71-22964_71-22963insGCCC | dbSNP |
9 | g.134843175_134843176insGGGG | CA201120803 | COL5A1 | c.*872_*873insGGGG (n.*872_*873insGGGG) n.71-22964_71-22963insCCCC | dbSNP gnomAD v3 gnomAD v4 |
9 | g.134843174G= | CA1883397525 | COL5A1 | c.*871G= (n.*871G=) n.71-22965C= | |
9 | g.134843174G>T | CA591117574 | COL5A1 | c.*871G>T (n.*871G>T) n.71-22965C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134843175_134843176insGAGG | CA201120805 | COL5A1 | c.*872_*873insGAGG (n.*872_*873insGAGG) n.71-22965_71-22964insTCCC | dbSNP |
9 | g.134843174_134843177dup | CA2692462639 | COL5A1 | c.*871_*874dup (n.*871_*874dup) n.71-22968_71-22965dup | gnomAD v4 |
9 | g.134843175_134843176delinsGA | CA1883397526 | COL5A1 | c.*872_*873delinsGA (n.*872_*873delinsGA) n.71-22967_71-22966delinsTC | |
9 | g.134843176_134843177insGTGA | CA2692462640 | COL5A1 | c.*873_*874insGTGA (n.*873_*874insGTGA) n.71-22966_71-22965insACTC | gnomAD v4 |
9 | g.134843176A= | CA1883397529 | COL5A1 | c.*873A= (n.*873A=) n.71-22967T= | |
9 | g.134843176_134843177insGGGAA | CA2692462641 | COL5A1 | c.*873_*874insGGGAA (n.*873_*874insGGGAA) n.71-22967_71-22966insTCCCT | gnomAD v4 |
9 | g.134843181del | CA1883397528 | COL5A1 | c.*878del (n.*878del) n.71-22967del | dbSNP |
9 | g.134843176_134843177insGGG | CA591117575 | COL5A1 | c.*873_*874insGGG (n.*873_*874insGGG) n.71-22968_71-22967insCCC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134843177_134843178insG | CA2786219011 | COL5A1 | c.*874_*875insG (n.*874_*875insG) n.71-22969_71-22968insC | |
9 | g.134843180_134843181insT | CA591117577 | COL5A1 | c.*877_*878insT (n.*877_*878insT) n.71-22972_71-22971insA | gnomAD v2 gnomAD v4 |