Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104071917_104071940dup | CA595685423 | COL17A1 | c.463+102_463+125dup (n.463+102_463+125dup) n.578+102_578+125dup c.415+102_415+125dup (n.415+102_415+125dup) n.513+102_513+125dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104071917_104071940del | CA212431286 | COL17A1 | c.463+102_463+125del (n.463+102_463+125del) n.578+102_578+125del c.415+102_415+125del (n.415+102_415+125del) n.513+102_513+125del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104071917_104071936del | CA1933377678 | COL17A1 | c.463+102_463+121del (n.463+102_463+121del) n.578+102_578+121del c.415+102_415+121del (n.415+102_415+121del) n.513+102_513+121del | dbSNP |
10 | g.104071931_104071932del | CA2610801302 | COL17A1 | c.463+106_463+107del (n.463+106_463+107del) n.578+106_578+107del c.415+106_415+107del (n.415+106_415+107del) n.513+106_513+107del | gnomAD v4 |
10 | g.104071926_104071938delinsGTGTGTGCATGCA | CA1933377693 | COL17A1 | c.463+94_463+106delinsTGCATGCACACAC (n.463+94_463+106delinsTGCATGCACACAC) n.578+94_578+106delinsTGCATGCACACAC c.415+94_415+106delinsTGCATGCACACAC (n.415+94_415+106delinsTGCATGCACACAC) n.513+94_513+106delinsTGCATGCACACAC | |
10 | g.104071927_104071933delinsTGTGTGC | CA1933377694 | COL17A1 | c.463+99_463+105delinsGCACACA (n.463+99_463+105delinsGCACACA) n.578+99_578+105delinsGCACACA c.415+99_415+105delinsGCACACA (n.415+99_415+105delinsGCACACA) n.513+99_513+105delinsGCACACA | |
10 | g.104071929_104071940del | CA659204078 | COL17A1 | c.463+94_463+105del (n.463+94_463+105del) n.578+94_578+105del c.415+94_415+105del (n.415+94_415+105del) n.513+94_513+105del | dbSNP |
10 | g.104071928_104071933del | CA932057882 | COL17A1 | c.463+99_463+104del (n.463+99_463+104del) n.578+99_578+104del c.415+99_415+104del (n.415+99_415+104del) n.513+99_513+104del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104071939_104071942dup | CA2610801319 | COL17A1 | c.463+98_463+101dup (n.463+98_463+101dup) n.578+98_578+101dup c.415+98_415+101dup (n.415+98_415+101dup) n.513+98_513+101dup | gnomAD v4 |
10 | g.104071939_104071942del | CA2610801317 | COL17A1 | c.463+98_463+101del (n.463+98_463+101del) n.578+98_578+101del c.415+98_415+101del (n.415+98_415+101del) n.513+98_513+101del | gnomAD v4 |
10 | g.104071931_104071951delinsTGCATGCATGCACACACACAC | CA1933377701 | COL17A1 | c.463+81_463+101delinsGTGTGTGTGTGCATGCATGCA (n.463+81_463+101delinsGTGTGTGTGTGCATGCATGCA) n.578+81_578+101delinsGTGTGTGTGTGCATGCATGCA c.415+81_415+101delinsGTGTGTGTGTGCATGCATGCA (n.415+81_415+101delinsGTGTGTGTGTGCATGCATGCA) n.513+81_513+101delinsGTGTGTGTGTGCATGCATGCA | |
10 | g.104071931_104071976delinsTGCATGCATGCACACACACACGCATGCACACACACACACACACACA | CA1933377702 | COL17A1 | c.463+56_463+101delinsTGTGTGTGTGTGTGTGTGTGCATGCGTGTGTGTGTGCATGCATGCA (n.463+56_463+101delinsTGTGTGTGTGTGTGTGTGTGCATGCGTGTGTGTGTGCATGCATGCA) n.578+56_578+101delinsTGTGTGTGTGTGTGTGTGTGCATGCGTGTGTGTGTGCATGCATGCA c.415+56_415+101delinsTGTGTGTGTGTGTGTGTGTGCATGCGTGTGTGTGTGCATGCATGCA (n.415+56_415+101delinsTGTGTGTGTGTGTGTGTGTGCATGCGTGTGTGTGTGCATGCATGCA) n.513+56_513+101delinsTGTGTGTGTGTGTGTGTGTGCATGCGTGTGTGTGTGCATGCATGCA | |
10 | g.104071932G>A | CA1933377705 | COL17A1 | c.463+100C>T (n.463+100C>T) n.578+100C>T c.415+100C>T (n.415+100C>T) n.513+100C>T | dbSNP gnomAD v4 |
10 | g.104071932G= | CA1933377704 | COL17A1 | c.463+100C= (n.463+100C=) n.578+100C= c.415+100C= (n.415+100C=) n.513+100C= | |
10 | g.104071932G>T | CA2610801326 | COL17A1 | c.463+100C>A (n.463+100C>A) n.578+100C>A c.415+100C>A (n.415+100C>A) n.513+100C>A | gnomAD v4 |
10 | g.104071939_104071958del | CA932057886 | COL17A1 | c.463+81_463+100del (n.463+81_463+100del) n.578+81_578+100del c.415+81_415+100del (n.415+81_415+100del) n.513+81_513+100del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104071935_104071979del | CA1933377703 | COL17A1 | c.463+56_463+100del (n.463+56_463+100del) n.578+56_578+100del c.415+56_415+100del (n.415+56_415+100del) n.513+56_513+100del | dbSNP gnomAD v4 |
10 | g.104071933C= | CA1933377706 | COL17A1 | c.463+99G= (n.463+99G=) n.578+99G= c.415+99G= (n.415+99G=) n.513+99G= | |
10 | g.104071933C>G | CA659204079 | COL17A1 | c.463+99G>C (n.463+99G>C) n.578+99G>C c.415+99G>C (n.415+99G>C) n.513+99G>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104071933C>T | CA2610801337 | COL17A1 | c.463+99G>A (n.463+99G>A) n.578+99G>A c.415+99G>A (n.415+99G>A) n.513+99G>A | gnomAD v4 |
10 | g.104071948_104071949insTGTATGTACATGCATGCACACACA | CA2610801338 | COL17A1 | c.463+99_463+100insTACATACATGTGTGTGCATGCATG (n.463+99_463+100insTACATACATGTGTGTGCATGCATG) n.578+99_578+100insTACATACATGTGTGTGCATGCATG c.415+99_415+100insTACATACATGTGTGTGCATGCATG (n.415+99_415+100insTACATACATGTGTGTGCATGCATG) n.513+99_513+100insTACATACATGTGTGTGCATGCATG | gnomAD v4 |
10 | g.104071934A>G | CA2574661655 | COL17A1 | c.463+98T>C (n.463+98T>C) n.578+98T>C c.415+98T>C (n.415+98T>C) n.513+98T>C | |
10 | g.104071934_104071940delinsATGCATG | CA1933377707 | COL17A1 | c.463+92_463+98delinsCATGCAT (n.463+92_463+98delinsCATGCAT) n.578+92_578+98delinsCATGCAT c.415+92_415+98delinsCATGCAT (n.415+92_415+98delinsCATGCAT) n.513+92_513+98delinsCATGCAT | |
10 | g.104071935T>A | CA212431304 | COL17A1 | c.463+97A>T (n.463+97A>T) n.578+97A>T c.415+97A>T (n.415+97A>T) n.513+97A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104071935T= | CA1933377708 | COL17A1 | c.463+97A= (n.463+97A=) n.578+97A= c.415+97A= (n.415+97A=) n.513+97A= | |
10 | g.104071935_104071940del | CA932057892 | COL17A1 | c.463+92_463+97del (n.463+92_463+97del) n.578+92_578+97del c.415+92_415+97del (n.415+92_415+97del) n.513+92_513+97del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104071935_104071951delinsTGCATGCACACACACAC | CA1933377709 | COL17A1 | c.463+81_463+97delinsGTGTGTGTGTGCATGCA (n.463+81_463+97delinsGTGTGTGTGTGCATGCA) n.578+81_578+97delinsGTGTGTGTGTGCATGCA c.415+81_415+97delinsGTGTGTGTGTGCATGCA (n.415+81_415+97delinsGTGTGTGTGTGCATGCA) n.513+81_513+97delinsGTGTGTGTGTGCATGCA | |
10 | g.104071936G>T | CA2610801351 | COL17A1 | c.463+96C>A (n.463+96C>A) n.578+96C>A c.415+96C>A (n.415+96C>A) n.513+96C>A | gnomAD v4 |
10 | g.104071936_104071941del | CA2610801349 | COL17A1 | c.463+91_463+96del (n.463+91_463+96del) n.578+91_578+96del c.415+91_415+96del (n.415+91_415+96del) n.513+91_513+96del | gnomAD v4 |
10 | g.104071936_104071943del | CA2555643451 | COL17A1 | c.463+89_463+96del (n.463+89_463+96del) n.578+89_578+96del c.415+89_415+96del (n.415+89_415+96del) n.513+89_513+96del | gnomAD v4 |
10 | g.104071952_104071967del | CA595685426 | COL17A1 | c.463+81_463+96del (n.463+81_463+96del) n.578+81_578+96del c.415+81_415+96del (n.415+81_415+96del) n.513+81_513+96del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104071939_104071948del | CA2574661656 | COL17A1 | c.463+86_463+95del (n.463+86_463+95del) n.578+86_578+95del c.415+86_415+95del (n.415+86_415+95del) n.513+86_513+95del | |
10 | g.104071938A>T | CA2574661657 | COL17A1 | c.463+94T>A (n.463+94T>A) n.578+94T>A c.415+94T>A (n.415+94T>A) n.513+94T>A | |
10 | g.104071939T>C | CA932057896 | COL17A1 | c.463+93A>G (n.463+93A>G) n.578+93A>G c.415+93A>G (n.415+93A>G) n.513+93A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104071939T= | CA1933377710 | COL17A1 | c.463+93A= (n.463+93A=) n.578+93A= c.415+93A= (n.415+93A=) n.513+93A= | |
10 | g.104071939_104071940del | CA2610801354 | COL17A1 | c.463+92_463+93del (n.463+92_463+93del) n.578+92_578+93del c.415+92_415+93del (n.415+92_415+93del) n.513+92_513+93del | gnomAD v4 |
10 | g.104071940G>A | CA659204085 | COL17A1 | c.463+92C>T (n.463+92C>T) n.578+92C>T c.415+92C>T (n.415+92C>T) n.513+92C>T | dbSNP gnomAD v4 |
10 | g.104071940G= | CA1933377712 | COL17A1 | c.463+92C= (n.463+92C=) n.578+92C= c.415+92C= (n.415+92C=) n.513+92C= | |
10 | g.104071940G>T | CA2610801363 | COL17A1 | c.463+92C>A (n.463+92C>A) n.578+92C>A c.415+92C>A (n.415+92C>A) n.513+92C>A | gnomAD v4 |
10 | g.104071940_104071941del | CA2574661658 | COL17A1 | c.463+91_463+92del (n.463+91_463+92del) n.578+91_578+92del c.415+91_415+92del (n.415+91_415+92del) n.513+91_513+92del | |
10 | g.104071940_104071942delinsGCA | CA1933377711 | COL17A1 | c.463+90_463+92delinsTGC (n.463+90_463+92delinsTGC) n.578+90_578+92delinsTGC c.415+90_415+92delinsTGC (n.415+90_415+92delinsTGC) n.513+90_513+92delinsTGC | |
10 | g.104071950_104071951insGGCATGCACGCACACACACA | CA2610801367 | COL17A1 | c.463+92_463+93insGTGCATGCCTGTGTGTGTGC (n.463+92_463+93insGTGCATGCCTGTGTGTGTGC) n.578+92_578+93insGTGCATGCCTGTGTGTGTGC c.415+92_415+93insGTGCATGCCTGTGTGTGTGC (n.415+92_415+93insGTGCATGCCTGTGTGTGTGC) n.513+92_513+93insGTGCATGCCTGTGTGTGTGC | gnomAD v4 |
10 | g.104071941C>T | CA2574661659 | COL17A1 | c.463+91G>A (n.463+91G>A) n.578+91G>A c.415+91G>A (n.415+91G>A) n.513+91G>A | gnomAD v4 |
10 | g.104071950_104071951dup | CA659204086 | COL17A1 | c.463+90_463+91dup (n.463+90_463+91dup) n.578+90_578+91dup c.415+90_415+91dup (n.415+90_415+91dup) n.513+90_513+91dup | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104071950_104071951del | CA595685428 | COL17A1 | c.463+90_463+91del (n.463+90_463+91del) n.578+90_578+91del c.415+90_415+91del (n.415+90_415+91del) n.513+90_513+91del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104071948_104071951del | CA2610801382 | COL17A1 | c.463+88_463+91del (n.463+88_463+91del) n.578+88_578+91del c.415+88_415+91del (n.415+88_415+91del) n.513+88_513+91del | gnomAD v4 |
10 | g.104071952_104071969del | CA2610801381 | COL17A1 | c.463+74_463+91del (n.463+74_463+91del) n.578+74_578+91del c.415+74_415+91del (n.415+74_415+91del) n.513+74_513+91del | gnomAD v4 |
10 | g.104071952_104071971del | CA2610801379 | COL17A1 | c.463+72_463+91del (n.463+72_463+91del) n.578+72_578+91del c.415+72_415+91del (n.415+72_415+91del) n.513+72_513+91del | gnomAD v4 |
10 | g.104071952_104071973del | CA2610801377 | COL17A1 | c.463+70_463+91del (n.463+70_463+91del) n.578+70_578+91del c.415+70_415+91del (n.415+70_415+91del) n.513+70_513+91del | gnomAD v4 |
10 | g.104071942A= | CA1933377713 | COL17A1 | c.463+90T= (n.463+90T=) n.578+90T= c.415+90T= (n.415+90T=) n.513+90T= |