Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104056931dup | CA2610800670 | COL17A1 | c.1465+45dup (n.1465+45dup) c.1417+45dup (n.1417+45dup) | gnomAD v4 |
10 | g.104056931C>A | CA595683583 | COL17A1 | c.1465+44G>T (n.1465+44G>T) c.1417+44G>T (n.1417+44G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056931C= | CA1933408342 | COL17A1 | c.1465+44G= (n.1465+44G=) c.1417+44G= (n.1417+44G=) | |
10 | g.104056931C>T | CA2610800676 | COL17A1 | c.1465+44G>A (n.1465+44G>A) c.1417+44G>A (n.1417+44G>A) | gnomAD v4 |
10 | g.104056932T>C | CA2610800678 | COL17A1 | c.1465+43A>G (n.1465+43A>G) c.1417+43A>G (n.1417+43A>G) | gnomAD v4 |
10 | g.104056933G>A | CA2610800680 | COL17A1 | c.1465+42C>T (n.1465+42C>T) c.1417+42C>T (n.1417+42C>T) | gnomAD v4 |
10 | g.104056933G>C | CA2610800681 | COL17A1 | c.1465+42C>G (n.1465+42C>G) c.1417+42C>G (n.1417+42C>G) | gnomAD v4 |
10 | g.104056933G>T | CA2610800682 | COL17A1 | c.1465+42C>A (n.1465+42C>A) c.1417+42C>A (n.1417+42C>A) | gnomAD v4 |
10 | g.104056934C>A | CA595683584 | COL17A1 | c.1465+41G>T (n.1465+41G>T) c.1417+41G>T (n.1417+41G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056934C= | CA1933408345 | COL17A1 | c.1465+41G= (n.1465+41G=) c.1417+41G= (n.1417+41G=) | |
10 | g.104056934C>T | CA5679034 | COL17A1 | c.1465+41G>A (n.1465+41G>A) c.1417+41G>A (n.1417+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104056935C>A | CA2610800689 | COL17A1 | c.1465+40G>T (n.1465+40G>T) c.1417+40G>T (n.1417+40G>T) | gnomAD v4 |
10 | g.104056935C= | CA1933408348 | COL17A1 | c.1465+40G= (n.1465+40G=) c.1417+40G= (n.1417+40G=) | |
10 | g.104056935C>T | CA595683585 | COL17A1 | c.1465+40G>A (n.1465+40G>A) c.1417+40G>A (n.1417+40G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056936T>A | CA2610800692 | COL17A1 | c.1465+39A>T (n.1465+39A>T) c.1417+39A>T (n.1417+39A>T) | gnomAD v4 |
10 | g.104056936T>C | CA5679035 | COL17A1 | c.1465+39A>G (n.1465+39A>G) c.1417+39A>G (n.1417+39A>G) | dbSNP ExAC gnomAD v4 |
10 | g.104056936T>G | CA2610800698 | COL17A1 | c.1465+39A>C (n.1465+39A>C) c.1417+39A>C (n.1417+39A>C) | gnomAD v4 |
10 | g.104056936T= | CA1933408351 | COL17A1 | c.1465+39A= (n.1465+39A=) c.1417+39A= (n.1417+39A=) | |
10 | g.104056937C>A | CA2610800713 | COL17A1 | c.1465+38G>T (n.1465+38G>T) c.1417+38G>T (n.1417+38G>T) | gnomAD v4 |
10 | g.104056937C>T | CA2610800714 | COL17A1 | c.1465+38G>A (n.1465+38G>A) c.1417+38G>A (n.1417+38G>A) | gnomAD v4 |
10 | g.104056938C>A | CA2610800715 | COL17A1 | c.1465+37G>T (n.1465+37G>T) c.1417+37G>T (n.1417+37G>T) | gnomAD v4 |
10 | g.104056939T>A | CA2610800716 | COL17A1 | c.1465+36A>T (n.1465+36A>T) c.1417+36A>T (n.1417+36A>T) | gnomAD v4 |
10 | g.104056940A>G | CA2574666597 | COL17A1 | c.1465+35T>C (n.1465+35T>C) c.1417+35T>C (n.1417+35T>C) | gnomAD v4 |
10 | g.104056940A>T | CA2610800720 | COL17A1 | c.1465+35T>A (n.1465+35T>A) c.1417+35T>A (n.1417+35T>A) | gnomAD v4 |
10 | g.104056941C>A | CA2610800721 | COL17A1 | c.1465+34G>T (n.1465+34G>T) c.1417+34G>T (n.1417+34G>T) | gnomAD v4 |
10 | g.104056941C>T | CA2610800723 | COL17A1 | c.1465+34G>A (n.1465+34G>A) c.1417+34G>A (n.1417+34G>A) | gnomAD v4 |
10 | g.104056942C>A | CA2610800724 | COL17A1 | c.1465+33G>T (n.1465+33G>T) c.1417+33G>T (n.1417+33G>T) | gnomAD v4 |
10 | g.104056942C>T | CA2610800725 | COL17A1 | c.1465+33G>A (n.1465+33G>A) c.1417+33G>A (n.1417+33G>A) | gnomAD v4 |
10 | g.104056943A>G | CA2574666598 | COL17A1 | c.1465+32T>C (n.1465+32T>C) c.1417+32T>C (n.1417+32T>C) | gnomAD v4 |
10 | g.104056944C>A | CA2610800727 | COL17A1 | c.1465+31G>T (n.1465+31G>T) c.1417+31G>T (n.1417+31G>T) | gnomAD v4 |
10 | g.104056945A>G | CA2610800730 | COL17A1 | c.1465+30T>C (n.1465+30T>C) c.1417+30T>C (n.1417+30T>C) | gnomAD v4 |
10 | g.104056946C>A | CA2610800733 | COL17A1 | c.1465+29G>T (n.1465+29G>T) c.1417+29G>T (n.1417+29G>T) | gnomAD v4 |
10 | g.104056946C>T | CA2610800735 | COL17A1 | c.1465+29G>A (n.1465+29G>A) c.1417+29G>A (n.1417+29G>A) | gnomAD v4 |
10 | g.104056946_104056947delinsCA | CA1933408352 | COL17A1 | c.1465+28_1465+29delinsTG (n.1465+28_1465+29delinsTG) c.1417+28_1417+29delinsTG (n.1417+28_1417+29delinsTG) | |
10 | g.104056947del | CA932077463 | COL17A1 | c.1465+28del (n.1465+28del) c.1417+28del (n.1417+28del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056947A= | CA1933408353 | COL17A1 | c.1465+28T= (n.1465+28T=) c.1417+28T= (n.1417+28T=) | |
10 | g.104056947A>C | CA2722337310 | COL17A1 | c.1465+28T>G (n.1465+28T>G) c.1417+28T>G (n.1417+28T>G) | dbSNP |
10 | g.104056947A>G | CA5679036 | COL17A1 | c.1465+28T>C (n.1465+28T>C) c.1417+28T>C (n.1417+28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104056947A>T | CA2610800741 | COL17A1 | c.1465+28T>A (n.1465+28T>A) c.1417+28T>A (n.1417+28T>A) | gnomAD v4 |
10 | g.104056948G>A | CA2610800744 | COL17A1 | c.1465+27C>T (n.1465+27C>T) c.1417+27C>T (n.1417+27C>T) | gnomAD v4 |
10 | g.104056948G>T | CA2610800745 | COL17A1 | c.1465+27C>A (n.1465+27C>A) c.1417+27C>A (n.1417+27C>A) | gnomAD v4 |
10 | g.104056948_104056950delinsGGC | CA1933408354 | COL17A1 | c.1465+25_1465+27delinsGCC (n.1465+25_1465+27delinsGCC) c.1417+25_1417+27delinsGCC (n.1417+25_1417+27delinsGCC) | |
10 | g.104056949G>A | CA595683586 | COL17A1 | c.1465+26C>T (n.1465+26C>T) c.1417+26C>T (n.1417+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056949G= | CA1933408356 | COL17A1 | c.1465+26C= (n.1465+26C=) c.1417+26C= (n.1417+26C=) | |
10 | g.104056949G>T | CA2610800747 | COL17A1 | c.1465+26C>A (n.1465+26C>A) c.1417+26C>A (n.1417+26C>A) | gnomAD v4 |
10 | g.104056949_104056950del | CA932077465 | COL17A1 | c.1465+25_1465+26del (n.1465+25_1465+26del) c.1417+25_1417+26del (n.1417+25_1417+26del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056955_104056962del | CA2789321247 | COL17A1 | c.1465+19_1465+26del (n.1465+19_1465+26del) c.1417+19_1417+26del (n.1417+19_1417+26del) | |
10 | g.104056950C>A | CA2610800748 | COL17A1 | c.1465+25G>T (n.1465+25G>T) c.1417+25G>T (n.1417+25G>T) | gnomAD v4 |
10 | g.104056950C= | CA1933408357 | COL17A1 | c.1465+25G= (n.1465+25G=) c.1417+25G= (n.1417+25G=) | |
10 | g.104056950C>T | CA5679037 | COL17A1 | c.1465+25G>A (n.1465+25G>A) c.1417+25G>A (n.1417+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104056950_104056951delinsCT | CA1933408359 | COL17A1 | c.1465+24_1465+25delinsAG (n.1465+24_1465+25delinsAG) c.1417+24_1417+25delinsAG (n.1417+24_1417+25delinsAG) | |
10 | g.104056951del | CA1933408364 | COL17A1 | c.1465+24del (n.1465+24del) c.1417+24del (n.1417+24del) | dbSNP gnomAD v4 |
10 | g.104056951T>C | CA595683587 | COL17A1 | c.1465+24A>G (n.1465+24A>G) c.1417+24A>G (n.1417+24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056951T= | CA1933408362 | COL17A1 | c.1465+24A= (n.1465+24A=) c.1417+24A= (n.1417+24A=) | |
10 | g.104056952G>A | CA659195456 | COL17A1 | c.1465+23C>T (n.1465+23C>T) c.1417+23C>T (n.1417+23C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056952G>C | CA2610800758 | COL17A1 | c.1465+23C>G (n.1465+23C>G) c.1417+23C>G (n.1417+23C>G) | gnomAD v4 |
10 | g.104056952G= | CA1933408369 | COL17A1 | c.1465+23C= (n.1465+23C=) c.1417+23C= (n.1417+23C=) | |
10 | g.104056952G>T | CA2538929910 | COL17A1 | c.1465+23C>A (n.1465+23C>A) c.1417+23C>A (n.1417+23C>A) | gnomAD v4 |
10 | g.104056952_104056954delinsGCC | CA1933408371 | COL17A1 | c.1465+21_1465+23delinsGGC (n.1465+21_1465+23delinsGGC) c.1417+21_1417+23delinsGGC (n.1417+21_1417+23delinsGGC) | |
10 | g.104056953C>A | CA2610800760 | COL17A1 | c.1465+22G>T (n.1465+22G>T) c.1417+22G>T (n.1417+22G>T) | gnomAD v4 |
10 | g.104056953C= | CA1933408374 | COL17A1 | c.1465+22G= (n.1465+22G=) c.1417+22G= (n.1417+22G=) | |
10 | g.104056953C>G | CA2574666599 | COL17A1 | c.1465+22G>C (n.1465+22G>C) c.1417+22G>C (n.1417+22G>C) | gnomAD v4 |
10 | g.104056953C>T | CA595683588 | COL17A1 | c.1465+22G>A (n.1465+22G>A) c.1417+22G>A (n.1417+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056955del | CA2610800759 | COL17A1 | c.1465+22del (n.1465+22del) c.1417+22del (n.1417+22del) | gnomAD v4 |
10 | g.104056954_104056955del | CA378072789 | COL17A1 | c.1465+21_1465+22del (n.1465+21_1465+22del) c.1417+21_1417+22del (n.1417+21_1417+22del) | dbSNP |
10 | g.104056954C>A | CA2610800765 | COL17A1 | c.1465+21G>T (n.1465+21G>T) c.1417+21G>T (n.1417+21G>T) | gnomAD v4 |
10 | g.104056954C>T | CA2610800767 | COL17A1 | c.1465+21G>A (n.1465+21G>A) c.1417+21G>A (n.1417+21G>A) | gnomAD v4 |
10 | g.104056955C>A | CA2610800769 | COL17A1 | c.1465+20G>T (n.1465+20G>T) c.1417+20G>T (n.1417+20G>T) | gnomAD v4 |
10 | g.104056955C= | CA1933408378 | COL17A1 | c.1465+20G= (n.1465+20G=) c.1417+20G= (n.1417+20G=) | |
10 | g.104056955_104056956insAGAGCAA | CA932077469 | COL17A1 | c.1465+19_1465+20insTTGCTCT (n.1465+19_1465+20insTTGCTCT) c.1417+19_1417+20insTTGCTCT (n.1417+19_1417+20insTTGCTCT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056956T>C | CA1933408384 | COL17A1 | c.1465+19A>G (n.1465+19A>G) c.1417+19A>G (n.1417+19A>G) | dbSNP gnomAD v4 |
10 | g.104056956T>G | CA2610800771 | COL17A1 | c.1465+19A>C (n.1465+19A>C) c.1417+19A>C (n.1417+19A>C) | gnomAD v4 |
10 | g.104056956T= | CA1933408381 | COL17A1 | c.1465+19A= (n.1465+19A=) c.1417+19A= (n.1417+19A=) | |
10 | g.104056957del | CA2610800773 | COL17A1 | c.1465+18del (n.1465+18del) c.1417+18del (n.1417+18del) | gnomAD v4 |
10 | g.104056957G>A | CA2610800774 | COL17A1 | c.1465+18C>T (n.1465+18C>T) c.1417+18C>T (n.1417+18C>T) | gnomAD v4 |
10 | g.104056958C>A | CA932077473 | COL17A1 | c.1465+17G>T (n.1465+17G>T) c.1417+17G>T (n.1417+17G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056958C= | CA1933408387 | COL17A1 | c.1465+17G= (n.1465+17G=) c.1417+17G= (n.1417+17G=) | |
10 | g.104056958C>G | CA2610800780 | COL17A1 | c.1465+17G>C (n.1465+17G>C) c.1417+17G>C (n.1417+17G>C) | gnomAD v4 |
10 | g.104056958C>T | CA2610800778 | COL17A1 | c.1465+17G>A (n.1465+17G>A) c.1417+17G>A (n.1417+17G>A) | gnomAD v4 |
10 | g.104056959T>G | CA932077485 | COL17A1 | c.1465+16A>C (n.1465+16A>C) c.1417+16A>C (n.1417+16A>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056959T= | CA1933408389 | COL17A1 | c.1465+16A= (n.1465+16A=) c.1417+16A= (n.1417+16A=) | |
10 | g.104056960G>A | CA595683589 | COL17A1 | c.1465+15C>T (n.1465+15C>T) c.1417+15C>T (n.1417+15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056960G= | CA1933408392 | COL17A1 | c.1465+15C= (n.1465+15C=) c.1417+15C= (n.1417+15C=) | |
10 | g.104056960G>T | CA2610800782 | COL17A1 | c.1465+15C>A (n.1465+15C>A) c.1417+15C>A (n.1417+15C>A) | gnomAD v4 |
10 | g.104056961C>A | CA2610800786 | COL17A1 | c.1465+14G>T (n.1465+14G>T) c.1417+14G>T (n.1417+14G>T) | gnomAD v4 |
10 | g.104056961C>T | CA2610800787 | COL17A1 | c.1465+14G>A (n.1465+14G>A) c.1417+14G>A (n.1417+14G>A) | gnomAD v4 |
10 | g.104056962C>A | CA2610800788 | COL17A1 | c.1465+13G>T (n.1465+13G>T) c.1417+13G>T (n.1417+13G>T) | gnomAD v4 |
10 | g.104056962C>G | CA2610800790 | COL17A1 | c.1465+13G>C (n.1465+13G>C) c.1417+13G>C (n.1417+13G>C) | gnomAD v4 |
10 | g.104056962C>T | CA2610800794 | COL17A1 | c.1465+13G>A (n.1465+13G>A) c.1417+13G>A (n.1417+13G>A) | gnomAD v4 |
10 | g.104056962_104056965delinsCTTT | CA1933408394 | COL17A1 | c.1465+10_1465+13delinsAAAG (n.1465+10_1465+13delinsAAAG) c.1417+10_1417+13delinsAAAG (n.1417+10_1417+13delinsAAAG) | |
10 | g.104056963T>C | CA2610800797 | COL17A1 | c.1465+12A>G (n.1465+12A>G) c.1417+12A>G (n.1417+12A>G) | gnomAD v4 |
10 | g.104056963_104056965del | CA932077486 | COL17A1 | c.1465+10_1465+12del (n.1465+10_1465+12del) c.1417+10_1417+12del (n.1417+10_1417+12del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056964T>C | CA2610800798 | COL17A1 | c.1465+11A>G (n.1465+11A>G) c.1417+11A>G (n.1417+11A>G) | gnomAD v4 |
10 | g.104056964T>G | CA659195468 | COL17A1 | c.1465+11A>C (n.1465+11A>C) c.1417+11A>C (n.1417+11A>C) | dbSNP |
10 | g.104056964T= | CA1933408397 | COL17A1 | c.1465+11A= (n.1465+11A=) c.1417+11A= (n.1417+11A=) | |
10 | g.104056965T= | CA1933408399 | COL17A1 | c.1465+10A= (n.1465+10A=) c.1417+10A= (n.1417+10A=) | |
10 | g.104056966G>A | CA595683590 | COL17A1 | c.1465+9C>T (n.1465+9C>T) c.1417+9C>T (n.1417+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056966G= | CA1933408404 | COL17A1 | c.1465+9C= (n.1465+9C=) c.1417+9C= (n.1417+9C=) | |
10 | g.104056966G>T | CA2610800802 | COL17A1 | c.1465+9C>A (n.1465+9C>A) c.1417+9C>A (n.1417+9C>A) | gnomAD v4 |
10 | g.104056966_104056967insAAGAG | CA932077488 | COL17A1 | c.1465+9_1465+10insTCTTC (n.1465+9_1465+10insTCTTC) c.1417+9_1417+10insTCTTC (n.1417+9_1417+10insTCTTC) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104056967C>A | CA2574666600 | COL17A1 | c.1465+8G>T (n.1465+8G>T) c.1417+8G>T (n.1417+8G>T) | gnomAD v4 |
10 | g.104056967C>T | CA2610800806 | COL17A1 | c.1465+8G>A (n.1465+8G>A) c.1417+8G>A (n.1417+8G>A) | gnomAD v4 |
10 | g.104056968C>A | CA2610800808 | COL17A1 | c.1465+7G>T (n.1465+7G>T) c.1417+7G>T (n.1417+7G>T) | gnomAD v4 |
10 | g.104056968C>G | CA2610800810 | COL17A1 | c.1465+7G>C (n.1465+7G>C) c.1417+7G>C (n.1417+7G>C) | gnomAD v4 |
10 | g.104056968C>T | CA471337780 | COL17A1 | c.1465+7G>A (n.1465+7G>A) c.1417+7G>A (n.1417+7G>A) | gnomAD v4 |
10 | g.104056969A= | CA1933408407 | COL17A1 | c.1465+6T= (n.1465+6T=) c.1417+6T= (n.1417+6T=) | |
10 | g.104056969A>G | CA595683591 | COL17A1 | c.1465+6T>C (n.1465+6T>C) c.1417+6T>C (n.1417+6T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056969A>T | CA932077504 | COL17A1 | c.1465+6T>A (n.1465+6T>A) c.1417+6T>A (n.1417+6T>A) | gnomAD v3 gnomAD v4 |
10 | g.104056970C>A | CA2610800814 | COL17A1 | c.1465+5G>T (n.1465+5G>T) c.1417+5G>T (n.1417+5G>T) | gnomAD v4 |
10 | g.104056970C= | CA1933408408 | COL17A1 | c.1465+5G= (n.1465+5G=) c.1417+5G= (n.1417+5G=) | |
10 | g.104056970C>G | CA2610800817 | COL17A1 | c.1465+5G>C (n.1465+5G>C) c.1417+5G>C (n.1417+5G>C) | gnomAD v4 |
10 | g.104056970C>T | CA5679038 | COL17A1 | c.1465+5G>A (n.1465+5G>A) c.1417+5G>A (n.1417+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056971G>A | CA5679039 | COL17A1 | c.1465+4C>T (n.1465+4C>T) c.1417+4C>T (n.1417+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104056971G= | CA1933408411 | COL17A1 | c.1465+4C= (n.1465+4C=) c.1417+4C= (n.1417+4C=) | |
10 | g.104056971G>T | CA1933408410 | COL17A1 | c.1465+4C>A (n.1465+4C>A) c.1417+4C>A (n.1417+4C>A) | dbSNP |
10 | g.104056971dup | CA595683592 | COL17A1 | c.1465+4dup (n.1465+4dup) c.1417+4dup (n.1417+4dup) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056972T>C | CA5679040 | COL17A1 | c.1465+3A>G (n.1465+3A>G) c.1417+3A>G (n.1417+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056972T= | CA1933408414 | COL17A1 | c.1465+3A= (n.1465+3A=) c.1417+3A= (n.1417+3A=) | |
10 | g.104056973A>C | CA378072790 | COL17A1 | c.1465+2T>G (n.1465+2T>G) c.1417+2T>G (n.1417+2T>G) | |
10 | g.104056973A>G | CA378072791 | COL17A1 | c.1465+2T>C (n.1465+2T>C) c.1417+2T>C (n.1417+2T>C) | gnomAD v4 |
10 | g.104056973A>T | CA378072792 | COL17A1 | c.1465+2T>A (n.1465+2T>A) c.1417+2T>A (n.1417+2T>A) | |
10 | g.104056974C>A | CA378072793 | COL17A1 | c.1465+1G>T (n.1465+1G>T) c.1417+1G>T (n.1417+1G>T) | gnomAD v4 |
10 | g.104056974C= | CA1933408427 | COL17A1 | c.1465+1G= (n.1465+1G=) c.1417+1G= (n.1417+1G=) | |
10 | g.104056974C>G | CA378072794 | COL17A1 | c.1465+1G>C (n.1465+1G>C) c.1417+1G>C (n.1417+1G>C) | |
10 | g.104056974C>T | CA378072795 | COL17A1 | c.1465+1G>A (n.1465+1G>A) c.1417+1G>A (n.1417+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056976del | CA2610800824 | COL17A1 | c.1465+1del c.1417+1del | gnomAD v4 |
10 | g.104056975C>A | CA378072798 | COL17A1 | c.1465G>T (p.Ala489Ser) c.1417G>T (p.Ala473Ser) | gnomAD v4 |
10 | g.104056975C= | CA1933408430 | COL17A1 | c.1465G= (p.Ala489=) c.1417G= (p.Ala473=) | |
10 | g.104056975C>G | CA378072796 | COL17A1 | c.1465G>C (p.Ala489Pro) c.1417G>C (p.Ala473Pro) | dbSNP |
10 | g.104056975C>T | CA378072797 | COL17A1 | c.1465G>A (p.Ala489Thr) c.1417G>A (p.Ala473Thr) | |
10 | g.104056976C>A | CA471337781 | COL17A1 | c.1464G>T (p.Leu488=) c.1416G>T (p.Leu472=) | gnomAD v4 |
10 | g.104056976C>G | CA471337782 | COL17A1 | c.1464G>C (p.Leu488=) c.1416G>C (p.Leu472=) | |
10 | g.104056976C>T | CA471337783 | COL17A1 | c.1464G>A (p.Leu488=) c.1416G>A (p.Leu472=) | gnomAD v4 |
10 | g.104056977A>C | CA378072799 | COL17A1 | c.1463T>G (p.Leu488Arg) c.1415T>G (p.Leu472Arg) | |
10 | g.104056977A>G | CA378072800 | COL17A1 | c.1463T>C (p.Leu488Pro) c.1415T>C (p.Leu472Pro) | gnomAD v4 |
10 | g.104056977A>T | CA378072801 | COL17A1 | c.1463T>A (p.Leu488Gln) c.1415T>A (p.Leu472Gln) | |
10 | g.104056978G>A | CA471337784 | COL17A1 | c.1462C>T (p.Leu488=) c.1414C>T (p.Leu472=) | dbSNP gnomAD v2 |
10 | g.104056978G>C | CA378072802 | COL17A1 | c.1462C>G (p.Leu488Val) c.1414C>G (p.Leu472Val) | |
10 | g.104056978G= | CA1933408435 | COL17A1 | c.1462C= (p.Leu488=) c.1414C= (p.Leu472=) | |
10 | g.104056978G>T | CA378072803 | COL17A1 | c.1462C>A (p.Leu488Met) c.1414C>A (p.Leu472Met) | |
10 | g.104056979A>C | CA471337785 | COL17A1 | c.1461T>G (p.Ala487=) c.1413T>G (p.Ala471=) | |
10 | g.104056979A>G | CA471337787 | COL17A1 | c.1461T>C (p.Ala487=) c.1413T>C (p.Ala471=) | |
10 | g.104056979A>T | CA471337786 | COL17A1 | c.1461T>A (p.Ala487=) c.1413T>A (p.Ala471=) | |
10 | g.104056980G>A | CA378072804 | COL17A1 | c.1460C>T (p.Ala487Val) c.1412C>T (p.Ala471Val) | gnomAD v4 |
10 | g.104056980G>C | CA378072805 | COL17A1 | c.1460C>G (p.Ala487Gly) c.1412C>G (p.Ala471Gly) | |
10 | g.104056980G>T | CA378072806 | COL17A1 | c.1460C>A (p.Ala487Asp) c.1412C>A (p.Ala471Asp) | |
10 | g.104056981C>A | CA378072807 | COL17A1 | c.1459G>T (p.Ala487Ser) c.1411G>T (p.Ala471Ser) | dbSNP gnomAD v4 |
10 | g.104056981C= | CA1933408440 | COL17A1 | c.1459G= (p.Ala487=) c.1411G= (p.Ala471=) | |
10 | g.104056981C>G | CA378072808 | COL17A1 | c.1459G>C (p.Ala487Pro) c.1411G>C (p.Ala471Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056981C>T | CA378072809 | COL17A1 | c.1459G>A (p.Ala487Thr) c.1411G>A (p.Ala471Thr) | gnomAD v4 |
10 | g.104056982A= | CA1933408448 | COL17A1 | c.1458T= (p.Ile486=) c.1410T= (p.Ile470=) | |
10 | g.104056982A>C | CA378072810 | COL17A1 | c.1458T>G (p.Ile486Met) c.1410T>G (p.Ile470Met) | |
10 | g.104056982A>G | CA5679041 | COL17A1 | c.1458T>C (p.Ile486=) c.1410T>C (p.Ile470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104056982A>T | CA471337788 | COL17A1 | c.1458T>A (p.Ile486=) c.1410T>A (p.Ile470=) | gnomAD v4 |
10 | g.104056983A>C | CA378072813 | COL17A1 | c.1457T>G (p.Ile486Ser) c.1409T>G (p.Ile470Ser) | |
10 | g.104056983A>G | CA378072812 | COL17A1 | c.1457T>C (p.Ile486Thr) c.1409T>C (p.Ile470Thr) | gnomAD v4 |
10 | g.104056983A>T | CA378072811 | COL17A1 | c.1457T>A (p.Ile486Asn) c.1409T>A (p.Ile470Asn) | |
10 | g.104056984T>A | CA378072814 | COL17A1 | c.1456A>T (p.Ile486Phe) c.1408A>T (p.Ile470Phe) | |
10 | g.104056984T>C | CA378072815 | COL17A1 | c.1456A>G (p.Ile486Val) c.1408A>G (p.Ile470Val) | gnomAD v4 |
10 | g.104056984T>G | CA378072816 | COL17A1 | c.1456A>C (p.Ile486Leu) c.1408A>C (p.Ile470Leu) | |
10 | g.104056985G>A | CA471337789 | COL17A1 | c.1455C>T (p.Leu485=) c.1407C>T (p.Leu469=) | gnomAD v4 |
10 | g.104056985G>C | CA5679042 | COL17A1 | c.1455C>G (p.Leu485=) c.1407C>G (p.Leu469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056985G= | CA1933408451 | COL17A1 | c.1455C= (p.Leu485=) c.1407C= (p.Leu469=) | |
10 | g.104056985G>T | CA471337790 | COL17A1 | c.1455C>A (p.Leu485=) c.1407C>A (p.Leu469=) | gnomAD v4 |
10 | g.104056986A>C | CA378072817 | COL17A1 | c.1454T>G (p.Leu485Arg) c.1406T>G (p.Leu469Arg) | |
10 | g.104056986A>G | CA378072818 | COL17A1 | c.1454T>C (p.Leu485Pro) c.1406T>C (p.Leu469Pro) | gnomAD v4 |
10 | g.104056986A>T | CA378072819 | COL17A1 | c.1454T>A (p.Leu485His) c.1406T>A (p.Leu469His) | gnomAD v4 |
10 | g.104056987G>A | CA378072820 | COL17A1 | c.1453C>T (p.Leu485Phe) c.1405C>T (p.Leu469Phe) | gnomAD v4 |
10 | g.104056987G>C | CA378072821 | COL17A1 | c.1453C>G (p.Leu485Val) c.1405C>G (p.Leu469Val) | |
10 | g.104056987G>T | CA378072822 | COL17A1 | c.1453C>A (p.Leu485Ile) c.1405C>A (p.Leu469Ile) | |
10 | g.104056988G>A | CA471337791 | COL17A1 | c.1452C>T (p.Gly484=) c.1404C>T (p.Gly468=) | gnomAD v4 |
10 | g.104056988G>C | CA471337792 | COL17A1 | c.1452C>G (p.Gly484=) c.1404C>G (p.Gly468=) | |
10 | g.104056988G>T | CA471337793 | COL17A1 | c.1452C>A (p.Gly484=) c.1404C>A (p.Gly468=) | gnomAD v4 |
10 | g.104056989C>A | CA378072823 | COL17A1 | c.1451G>T (p.Gly484Val) c.1403G>T (p.Gly468Val) | dbSNP gnomAD v4 |
10 | g.104056989C= | CA1933408454 | COL17A1 | c.1451G= (p.Gly484=) c.1403G= (p.Gly468=) | |
10 | g.104056989C>G | CA378072824 | COL17A1 | c.1451G>C (p.Gly484Ala) c.1403G>C (p.Gly468Ala) | |
10 | g.104056989C>T | CA378072825 | COL17A1 | c.1451G>A (p.Gly484Asp) c.1403G>A (p.Gly468Asp) | ClinVar dbSNP gnomAD v4 |
10 | g.104056990C>A | CA378072826 | COL17A1 | c.1450G>T (p.Gly484Cys) c.1402G>T (p.Gly468Cys) | gnomAD v4 |
10 | g.104056990C= | CA1933408460 | COL17A1 | c.1450G= (p.Gly484=) c.1402G= (p.Gly468=) | |
10 | g.104056990C>G | CA378072827 | COL17A1 | c.1450G>C (p.Gly484Arg) c.1402G>C (p.Gly468Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056990C>T | CA5679043 | COL17A1 | c.1450G>A (p.Gly484Ser) c.1402G>A (p.Gly468Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056991G>A | CA471337794 | COL17A1 | c.1449C>T (p.Phe483=) c.1401C>T (p.Phe467=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056991G>C | CA378072828 | COL17A1 | c.1449C>G (p.Phe483Leu) c.1401C>G (p.Phe467Leu) | gnomAD v4 |
10 | g.104056991G= | CA1933408466 | COL17A1 | c.1449C= (p.Phe483=) c.1401C= (p.Phe467=) | |
10 | g.104056991G>T | CA378072829 | COL17A1 | c.1449C>A (p.Phe483Leu) c.1401C>A (p.Phe467Leu) | gnomAD v4 |
10 | g.104056992A>C | CA378072830 | COL17A1 | c.1448T>G (p.Phe483Cys) c.1400T>G (p.Phe467Cys) | |
10 | g.104056992A>G | CA378072831 | COL17A1 | c.1448T>C (p.Phe483Ser) c.1400T>C (p.Phe467Ser) | |
10 | g.104056992A>T | CA378072832 | COL17A1 | c.1448T>A (p.Phe483Tyr) c.1400T>A (p.Phe467Tyr) | |
10 | g.104056993A>C | CA378072833 | COL17A1 | c.1447T>G (p.Phe483Val) c.1399T>G (p.Phe467Val) | |
10 | g.104056993A>G | CA378072834 | COL17A1 | c.1447T>C (p.Phe483Leu) c.1399T>C (p.Phe467Leu) | |
10 | g.104056993A>T | CA378072835 | COL17A1 | c.1447T>A (p.Phe483Ile) c.1399T>A (p.Phe467Ile) | |
10 | g.104056994G>A | CA5679044 | COL17A1 | c.1446C>T (p.Leu482=) c.1398C>T (p.Leu466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104056994G>C | CA471337795 | COL17A1 | c.1446C>G (p.Leu482=) c.1398C>G (p.Leu466=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056994G= | CA1933408471 | COL17A1 | c.1446C= (p.Leu482=) c.1398C= (p.Leu466=) | |
10 | g.104056994G>T | CA471337796 | COL17A1 | c.1446C>A (p.Leu482=) c.1398C>A (p.Leu466=) | gnomAD v4 |
10 | g.104056995A>C | CA378072836 | COL17A1 | c.1445T>G (p.Leu482Arg) c.1397T>G (p.Leu466Arg) | |
10 | g.104056995A>G | CA378072837 | COL17A1 | c.1445T>C (p.Leu482Pro) c.1397T>C (p.Leu466Pro) | |
10 | g.104056995A>T | CA378072838 | COL17A1 | c.1445T>A (p.Leu482His) c.1397T>A (p.Leu466His) | gnomAD v4 |
10 | g.104056996G>A | CA378072839 | COL17A1 | c.1444C>T (p.Leu482Phe) c.1396C>T (p.Leu466Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104056996G>C | CA378072840 | COL17A1 | c.1444C>G (p.Leu482Val) c.1396C>G (p.Leu466Val) | gnomAD v4 |
10 | g.104056996G= | CA1933408477 | COL17A1 | c.1444C= (p.Leu482=) c.1396C= (p.Leu466=) | |
10 | g.104056996G>T | CA378072841 | COL17A1 | c.1444C>A (p.Leu482Ile) c.1396C>A (p.Leu466Ile) | |
10 | g.104056997C>A | CA471337797 | COL17A1 | c.1443G>T (p.Leu481=) c.1395G>T (p.Leu465=) | gnomAD v4 |
10 | g.104056997C>G | CA471337798 | COL17A1 | c.1443G>C (p.Leu481=) c.1395G>C (p.Leu465=) | |
10 | g.104056997C>T | CA471337799 | COL17A1 | c.1443G>A (p.Leu481=) c.1395G>A (p.Leu465=) | gnomAD v4 |
10 | g.104056998A>C | CA378072844 | COL17A1 | c.1442T>G (p.Leu481Arg) c.1394T>G (p.Leu465Arg) | |
10 | g.104056998A>G | CA378072842 | COL17A1 | c.1442T>C (p.Leu481Pro) c.1394T>C (p.Leu465Pro) | |
10 | g.104056998A>T | CA378072843 | COL17A1 | c.1442T>A (p.Leu481Gln) c.1394T>A (p.Leu465Gln) | |
10 | g.104056999G>A | CA471337800 | COL17A1 | c.1441C>T (p.Leu481=) c.1393C>T (p.Leu465=) | gnomAD v4 |
10 | g.104056999G>C | CA378072845 | COL17A1 | c.1441C>G (p.Leu481Val) c.1393C>G (p.Leu465Val) | |
10 | g.104056999G>T | CA378072846 | COL17A1 | c.1441C>A (p.Leu481Met) c.1393C>A (p.Leu465Met) | gnomAD v4 |
10 | g.104057000C>A | CA471337802 | COL17A1 | c.1440G>T (p.Gly480=) c.1392G>T (p.Gly464=) | gnomAD v4 |
10 | g.104057000C>G | CA471337803 | COL17A1 | c.1440G>C (p.Gly480=) c.1392G>C (p.Gly464=) | |
10 | g.104057000C>T | CA471337801 | COL17A1 | c.1440G>A (p.Gly480=) c.1392G>A (p.Gly464=) | gnomAD v4 |
10 | g.104057003del | CA2610800862 | COL17A1 | c.1440del (p.Leu481CysfsTer12) c.1392del (p.Leu465CysfsTer12) | gnomAD v4 |
10 | g.104057001C>A | CA378072847 | COL17A1 | c.1439G>T (p.Gly480Val) c.1391G>T (p.Gly464Val) | dbSNP gnomAD v4 |
10 | g.104057001C= | CA1933408481 | COL17A1 | c.1439G= (p.Gly480=) c.1391G= (p.Gly464=) | |
10 | g.104057001C>G | CA378072848 | COL17A1 | c.1439G>C (p.Gly480Ala) c.1391G>C (p.Gly464Ala) | |
10 | g.104057001C>T | CA378072849 | COL17A1 | c.1439G>A (p.Gly480Glu) c.1391G>A (p.Gly464Glu) | |
10 | g.104057002C>A | CA378072850 | COL17A1 | c.1438G>T (p.Gly480Trp) c.1390G>T (p.Gly464Trp) | gnomAD v4 |
10 | g.104057002C>G | CA378072851 | COL17A1 | c.1438G>C (p.Gly480Arg) c.1390G>C (p.Gly464Arg) | |
10 | g.104057002C>T | CA378072852 | COL17A1 | c.1438G>A (p.Gly480Arg) c.1390G>A (p.Gly464Arg) | gnomAD v4 |
10 | g.104057007_104057019del | CA2610800864 | COL17A1 | c.1426_1438del (p.Leu476GlyfsTer13) c.1378_1390del (p.Leu460GlyfsTer13) | gnomAD v4 |
10 | g.104057003C>A | CA5679045 | COL17A1 | c.1437G>T (p.Leu479=) c.1389G>T (p.Leu463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104057003C= | CA1933408484 | COL17A1 | c.1437G= (p.Leu479=) c.1389G= (p.Leu463=) | |
10 | g.104057003C>G | CA471337805 | COL17A1 | c.1437G>C (p.Leu479=) c.1389G>C (p.Leu463=) | |
10 | g.104057003C>T | CA471337804 | COL17A1 | c.1437G>A (p.Leu479=) c.1389G>A (p.Leu463=) | ClinVar gnomAD v4 |
10 | g.104057004A>C | CA378072853 | COL17A1 | c.1436T>G (p.Leu479Arg) c.1388T>G (p.Leu463Arg) | gnomAD v4 |
10 | g.104057004A>G | CA378072854 | COL17A1 | c.1436T>C (p.Leu479Pro) c.1388T>C (p.Leu463Pro) | |
10 | g.104057004A>T | CA378072855 | COL17A1 | c.1436T>A (p.Leu479Gln) c.1388T>A (p.Leu463Gln) | |
10 | g.104057005G>A | CA471337806 | COL17A1 | c.1435C>T (p.Leu479=) c.1387C>T (p.Leu463=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104057005G>C | CA378072856 | COL17A1 | c.1435C>G (p.Leu479Val) c.1387C>G (p.Leu463Val) | |
10 | g.104057005G= | CA1933408486 | COL17A1 | c.1435C= (p.Leu479=) c.1387C= (p.Leu463=) | |
10 | g.104057005G>T | CA378072857 | COL17A1 | c.1435C>A (p.Leu479Met) c.1387C>A (p.Leu463Met) | gnomAD v4 |
10 | g.104057006G>A | CA471337807 | COL17A1 | c.1434C>T (p.Leu478=) c.1386C>T (p.Leu462=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104057006G>C | CA471337809 | COL17A1 | c.1434C>G (p.Leu478=) c.1386C>G (p.Leu462=) | |
10 | g.104057006G= | CA1933408490 | COL17A1 | c.1434C= (p.Leu478=) c.1386C= (p.Leu462=) | |
10 | g.104057006G>T | CA471337808 | COL17A1 | c.1434C>A (p.Leu478=) c.1386C>A (p.Leu462=) | gnomAD v4 |
10 | g.104057007A= | CA1933408494 | COL17A1 | c.1433T= (p.Leu478=) c.1385T= (p.Leu462=) | |
10 | g.104057007A>C | CA378072858 | COL17A1 | c.1433T>G (p.Leu478Arg) c.1385T>G (p.Leu462Arg) | |
10 | g.104057007A>G | CA378072859 | COL17A1 | c.1433T>C (p.Leu478Pro) c.1385T>C (p.Leu462Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104057007A>T | CA378072860 | COL17A1 | c.1433T>A (p.Leu478His) c.1385T>A (p.Leu462His) | |
10 | g.104057008G>A | CA378072861 | COL17A1 | c.1432C>T (p.Leu478Phe) c.1384C>T (p.Leu462Phe) | gnomAD v4 |
10 | g.104057008G>C | CA378072862 | COL17A1 | c.1432C>G (p.Leu478Val) c.1384C>G (p.Leu462Val) | |
10 | g.104057008G>T | CA378072863 | COL17A1 | c.1432C>A (p.Leu478Ile) c.1384C>A (p.Leu462Ile) | |
10 | g.104057009T>A | CA471337810 | COL17A1 | c.1431A>T (p.Leu477=) c.1383A>T (p.Leu461=) | |
10 | g.104057009T>C | CA471337811 | COL17A1 | c.1431A>G (p.Leu477=) c.1383A>G (p.Leu461=) | gnomAD v4 |
10 | g.104057009T>G | CA471337812 | COL17A1 | c.1431A>C (p.Leu477=) c.1383A>C (p.Leu461=) | dbSNP |
10 | g.104057010A>C | CA378072864 | COL17A1 | c.1430T>G (p.Leu477Arg) c.1382T>G (p.Leu461Arg) | |
10 | g.104057010A>G | CA378072865 | COL17A1 | c.1430T>C (p.Leu477Pro) c.1382T>C (p.Leu461Pro) | |
10 | g.104057010A>T | CA378072866 | COL17A1 | c.1430T>A (p.Leu477Gln) c.1382T>A (p.Leu461Gln) | |
10 | g.104057011G>A | CA5679046 | COL17A1 | c.1429C>T (p.Leu477=) c.1381C>T (p.Leu461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104057011G>C | CA378072867 | COL17A1 | c.1429C>G (p.Leu477Val) c.1381C>G (p.Leu461Val) | |
10 | g.104057011G= | CA1933408497 | COL17A1 | c.1429C= (p.Leu477=) c.1381C= (p.Leu461=) | |
10 | g.104057011G>T | CA378072868 | COL17A1 | c.1429C>A (p.Leu477Ile) c.1381C>A (p.Leu461Ile) | |
10 | g.104057012C>A | CA471337813 | COL17A1 | c.1428G>T (p.Leu476=) c.1380G>T (p.Leu460=) | gnomAD v4 |
10 | g.104057012C>G | CA471337814 | COL17A1 | c.1428G>C (p.Leu476=) c.1380G>C (p.Leu460=) | |
10 | g.104057012C>T | CA471337815 | COL17A1 | c.1428G>A (p.Leu476=) c.1380G>A (p.Leu460=) | gnomAD v4 |
10 | g.104057013A>C | CA378072871 | COL17A1 | c.1427T>G (p.Leu476Arg) c.1379T>G (p.Leu460Arg) | |
10 | g.104057013A>G | CA378072870 | COL17A1 | c.1427T>C (p.Leu476Pro) c.1379T>C (p.Leu460Pro) | |
10 | g.104057013A>T | CA378072869 | COL17A1 | c.1427T>A (p.Leu476Gln) c.1379T>A (p.Leu460Gln) | |
10 | g.104057014G>A | CA471337816 | COL17A1 | c.1426C>T (p.Leu476=) c.1378C>T (p.Leu460=) | gnomAD v4 |
10 | g.104057014G>C | CA378072872 | COL17A1 | c.1426C>G (p.Leu476Val) c.1378C>G (p.Leu460Val) | |
10 | g.104057014G>T | CA378072873 | COL17A1 | c.1426C>A (p.Leu476Met) c.1378C>A (p.Leu460Met) | gnomAD v4 |
10 | g.104057015C>A | CA378072874 | COL17A1 | c.1425G>T (p.Trp475Cys) c.1377G>T (p.Trp459Cys) | gnomAD v4 |
10 | g.104057015C>G | CA378072875 | COL17A1 | c.1425G>C (p.Trp475Cys) c.1377G>C (p.Trp459Cys) | |
10 | g.104057015C>T | CA378072876 | COL17A1 | c.1425G>A (p.Trp475Ter) c.1377G>A (p.Trp459Ter) | gnomAD v4 |
10 | g.104057016C>A | CA378072877 | COL17A1 | c.1424G>T (p.Trp475Leu) c.1376G>T (p.Trp459Leu) | gnomAD v4 |
10 | g.104057016C= | CA1933408502 | COL17A1 | c.1424G= (p.Trp475=) c.1376G= (p.Trp459=) | |
10 | g.104057016C>G | CA378072878 | COL17A1 | c.1424G>C (p.Trp475Ser) c.1376G>C (p.Trp459Ser) | |
10 | g.104057016C>T | CA378072879 | COL17A1 | c.1424G>A (p.Trp475Ter) c.1376G>A (p.Trp459Ter) | ClinVar dbSNP |
10 | g.104057017A= | CA1933408505 | COL17A1 | c.1423T= (p.Trp475=) c.1375T= (p.Trp459=) | |
10 | g.104057017A>C | CA378072880 | COL17A1 | c.1423T>G (p.Trp475Gly) c.1375T>G (p.Trp459Gly) | |
10 | g.104057017A>G | CA378072881 | COL17A1 | c.1423T>C (p.Trp475Arg) c.1375T>C (p.Trp459Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104057017A>T | CA378072882 | COL17A1 | c.1423T>A (p.Trp475Arg) c.1375T>A (p.Trp459Arg) | |
10 | g.104057018G>A | CA471337817 | COL17A1 | c.1422C>T (p.Thr474=) c.1374C>T (p.Thr458=) | |
10 | g.104057018G>C | CA212420831 | COL17A1 | c.1422C>G (p.Thr474=) c.1374C>G (p.Thr458=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104057018G= | CA1933408509 | COL17A1 | c.1422C= (p.Thr474=) c.1374C= (p.Thr458=) | |
10 | g.104057018G>T | CA471337818 | COL17A1 | c.1422C>A (p.Thr474=) c.1374C>A (p.Thr458=) | |
10 | g.104057019G>A | CA378072883 | COL17A1 | c.1421C>T (p.Thr474Ile) c.1373C>T (p.Thr458Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104057019G>C | CA378072885 | COL17A1 | c.1421C>G (p.Thr474Ser) c.1373C>G (p.Thr458Ser) | |
10 | g.104057019G= | CA1933408512 | COL17A1 | c.1421C= (p.Thr474=) c.1373C= (p.Thr458=) | |
10 | g.104057019G>T | CA378072884 | COL17A1 | c.1421C>A (p.Thr474Asn) c.1373C>A (p.Thr458Asn) | |
10 | g.104057020T>A | CA378072886 | COL17A1 | c.1420A>T (p.Thr474Ser) c.1372A>T (p.Thr458Ser) | |
10 | g.104057020T>C | CA378072888 | COL17A1 | c.1420A>G (p.Thr474Ala) c.1372A>G (p.Thr458Ala) | |
10 | g.104057020T>G | CA378072887 | COL17A1 | c.1420A>C (p.Thr474Pro) c.1372A>C (p.Thr458Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104057020T= | CA1933408515 | COL17A1 | c.1420A= (p.Thr474=) c.1372A= (p.Thr458=) | |
10 | g.104057021G>A | CA471337819 | COL17A1 | c.1419C>T (p.Leu473=) c.1371C>T (p.Leu457=) | gnomAD v4 COSMIC |
10 | g.104057021G>C | CA471337821 | COL17A1 | c.1419C>G (p.Leu473=) c.1371C>G (p.Leu457=) | |
10 | g.104057021G>T | CA471337820 | COL17A1 | c.1419C>A (p.Leu473=) c.1371C>A (p.Leu457=) | gnomAD v4 |
10 | g.104057022A= | CA1933408518 | COL17A1 | c.1418T= (p.Leu473=) c.1370T= (p.Leu457=) | |
10 | g.104057022A>C | CA378072889 | COL17A1 | c.1418T>G (p.Leu473Arg) c.1370T>G (p.Leu457Arg) | |
10 | g.104057022A>G | CA378072891 | COL17A1 | c.1418T>C (p.Leu473Pro) c.1370T>C (p.Leu457Pro) | dbSNP gnomAD v2 |
10 | g.104057022A>T | CA378072890 | COL17A1 | c.1418T>A (p.Leu473His) c.1370T>A (p.Leu457His) | |
10 | g.104057023G>A | CA378072892 | COL17A1 | c.1417C>T (p.Leu473Phe) c.1369C>T (p.Leu457Phe) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104057023G>C | CA378072894 | COL17A1 | c.1417C>G (p.Leu473Val) c.1369C>G (p.Leu457Val) | |
10 | g.104057023G= | CA1933408520 | COL17A1 | c.1417C= (p.Leu473=) c.1369C= (p.Leu457=) | |
10 | g.104057023G>T | CA378072893 | COL17A1 | c.1417C>A (p.Leu473Ile) c.1369C>A (p.Leu457Ile) | |
10 | g.104057031_104057061del | CA2610800885 | COL17A1 | c.1387_1417del (p.Trp464ProfsTer19) c.1339_1369del (p.Trp448ProfsTer19) | gnomAD v4 |
10 | g.104057024C>A | CA471337822 | COL17A1 | c.1416G>T (p.Leu472=) c.1368G>T (p.Leu456=) | gnomAD v4 |
10 | g.104057024C= | CA1933408524 | COL17A1 | c.1416G= (p.Leu472=) c.1368G= (p.Leu456=) | |
10 | g.104057024C>G | CA212420838 | COL17A1 | c.1416G>C (p.Leu472=) c.1368G>C (p.Leu456=) | dbSNP gnomAD v4 |
10 | g.104057024C>T | CA471337823 | COL17A1 | c.1416G>A (p.Leu472=) c.1368G>A (p.Leu456=) | ClinVar |
10 | g.104057025A>C | CA378072895 | COL17A1 | c.1415T>G (p.Leu472Arg) c.1367T>G (p.Leu456Arg) | |
10 | g.104057025A>G | CA378072896 | COL17A1 | c.1415T>C (p.Leu472Pro) c.1367T>C (p.Leu456Pro) | |
10 | g.104057025A>T | CA378072897 | COL17A1 | c.1415T>A (p.Leu472Gln) c.1367T>A (p.Leu456Gln) | |
10 | g.104057026G>A | CA471337824 | COL17A1 | c.1414C>T (p.Leu472=) c.1366C>T (p.Leu456=) | gnomAD v4 |
10 | g.104057026G>C | CA378072898 | COL17A1 | c.1414C>G (p.Leu472Val) c.1366C>G (p.Leu456Val) | |
10 | g.104057026G= | CA1933408526 | COL17A1 | c.1414C= (p.Leu472=) c.1366C= (p.Leu456=) | |
10 | g.104057026G>T | CA378072899 | COL17A1 | c.1414C>A (p.Leu472Met) c.1366C>A (p.Leu456Met) | dbSNP gnomAD v4 |
10 | g.104057027C>A | CA471337825 | COL17A1 | c.1413G>T (p.Leu471=) c.1365G>T (p.Leu455=) | |
10 | g.104057027C= | CA1933408531 | COL17A1 | c.1413G= (p.Leu471=) c.1365G= (p.Leu455=) | |
10 | g.104057027C>G | CA471337826 | COL17A1 | c.1413G>C (p.Leu471=) c.1365G>C (p.Leu455=) | |
10 | g.104057027C>T | CA5679047 | COL17A1 | c.1413G>A (p.Leu471=) c.1365G>A (p.Leu455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104057028A>C | CA378072900 | COL17A1 | c.1412T>G (p.Leu471Arg) c.1364T>G (p.Leu455Arg) | |
10 | g.104057028A>G | CA378072901 | COL17A1 | c.1412T>C (p.Leu471Pro) c.1364T>C (p.Leu455Pro) | |
10 | g.104057028A>T | CA378072902 | COL17A1 | c.1412T>A (p.Leu471Gln) c.1364T>A (p.Leu455Gln) | |
10 | g.104057029G>A | CA471337827 | COL17A1 | c.1411C>T (p.Leu471=) c.1363C>T (p.Leu455=) | ClinVar gnomAD v4 |
10 | g.104057029G>C | CA378072903 | COL17A1 | c.1411C>G (p.Leu471Val) c.1363C>G (p.Leu455Val) | |
10 | g.104057029G>T | CA378072904 | COL17A1 | c.1411C>A (p.Leu471Met) c.1363C>A (p.Leu455Met) | |
10 | g.104057030G>A | CA471337828 | COL17A1 | c.1410C>T (p.Gly470=) c.1362C>T (p.Gly454=) | COSMIC |
10 | g.104057030G>C | CA471337829 | COL17A1 | c.1410C>G (p.Gly470=) c.1362C>G (p.Gly454=) | |
10 | g.104057030G>T | CA471337830 | COL17A1 | c.1410C>A (p.Gly470=) c.1362C>A (p.Gly454=) | gnomAD v4 |
10 | g.104057031C>A | CA378072907 | COL17A1 | c.1409G>T (p.Gly470Val) c.1361G>T (p.Gly454Val) | gnomAD v4 |
10 | g.104057031C>G | CA378072905 | COL17A1 | c.1409G>C (p.Gly470Ala) c.1361G>C (p.Gly454Ala) | |
10 | g.104057031C>T | CA378072906 | COL17A1 | c.1409G>A (p.Gly470Asp) c.1361G>A (p.Gly454Asp) |