Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104033904C= | CA1933417696 | COL17A1 | c.3910+41G= (n.3910+41G=) c.186+41G= c.4156+41G= (n.4156+41G=) | |
10 | g.104033904C>G | CA659193501 | COL17A1 | c.3910+41G>C (n.3910+41G>C) c.186+41G>C c.4156+41G>C (n.4156+41G>C) | dbSNP |
10 | g.104033904C>T | CA2574660661 | COL17A1 | c.3910+41G>A (n.3910+41G>A) c.186+41G>A c.4156+41G>A (n.4156+41G>A) | |
10 | g.104033905T>G | CA1933417699 | COL17A1 | c.3910+40A>C (n.3910+40A>C) c.186+40A>C c.4156+40A>C (n.4156+40A>C) | dbSNP |
10 | g.104033905T= | CA1933417698 | COL17A1 | c.3910+40A= (n.3910+40A=) c.186+40A= c.4156+40A= (n.4156+40A=) | |
10 | g.104033906C= | CA1933417700 | COL17A1 | c.3910+39G= (n.3910+39G=) c.186+39G= c.4156+39G= (n.4156+39G=) | |
10 | g.104033906C>G | CA5677694 | COL17A1 | c.3910+39G>C (n.3910+39G>C) c.186+39G>C c.4156+39G>C (n.4156+39G>C) | dbSNP ExAC gnomAD v2 |
10 | g.104033907C= | CA1933417701 | COL17A1 | c.3910+38G= (n.3910+38G=) c.186+38G= c.4156+38G= (n.4156+38G=) | |
10 | g.104033909dup | CA595672943 | COL17A1 | c.3910+37dup (n.3910+37dup) c.186+37dup c.4156+37dup (n.4156+37dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033909T>C | CA2574660662 | COL17A1 | c.3910+36A>G (n.3910+36A>G) c.186+36A>G c.4156+36A>G (n.4156+36A>G) | |
10 | g.104033909_104033910delinsTC | CA1933417703 | COL17A1 | c.3910+35_3910+36delinsGA (n.3910+35_3910+36delinsGA) c.186+35_186+36delinsGA c.4156+35_4156+36delinsGA (n.4156+35_4156+36delinsGA) | |
10 | g.104033910C>A | CA2610796348 | COL17A1 | c.3910+35G>T (n.3910+35G>T) c.186+35G>T c.4156+35G>T (n.4156+35G>T) | gnomAD v4 |
10 | g.104033910C= | CA1933417706 | COL17A1 | c.3910+35G= (n.3910+35G=) c.186+35G= c.4156+35G= (n.4156+35G=) | |
10 | g.104033910C>G | CA2610796347 | COL17A1 | c.3910+35G>C (n.3910+35G>C) c.186+35G>C c.4156+35G>C (n.4156+35G>C) | gnomAD v4 |
10 | g.104033910C>T | CA212449738 | COL17A1 | c.3910+35G>A (n.3910+35G>A) c.186+35G>A c.4156+35G>A (n.4156+35G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033915dup | CA5677696 | COL17A1 | c.3910+35dup (n.3910+35dup) c.186+35dup c.4156+35dup (n.4156+35dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033915del | CA5677695 | COL17A1 | c.3910+35del (n.3910+35del) c.186+35del c.4156+35del (n.4156+35del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033911C>A | CA595672944 | COL17A1 | c.3910+34G>T (n.3910+34G>T) c.186+34G>T c.4156+34G>T (n.4156+34G>T) | dbSNP gnomAD v2 |
10 | g.104033911C= | CA1933417708 | COL17A1 | c.3910+34G= (n.3910+34G=) c.186+34G= c.4156+34G= (n.4156+34G=) | |
10 | g.104033911C>T | CA2610796349 | COL17A1 | c.3910+34G>A (n.3910+34G>A) c.186+34G>A c.4156+34G>A (n.4156+34G>A) | gnomAD v4 |
10 | g.104033913C>A | CA212449755 | COL17A1 | c.3910+32G>T (n.3910+32G>T) c.186+32G>T c.4156+32G>T (n.4156+32G>T) | dbSNP |
10 | g.104033913C= | CA1933417711 | COL17A1 | c.3910+32G= (n.3910+32G=) c.186+32G= c.4156+32G= (n.4156+32G=) | |
10 | g.104033913C>G | CA5677697 | COL17A1 | c.3910+32G>C (n.3910+32G>C) c.186+32G>C c.4156+32G>C (n.4156+32G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033914C= | CA1933417715 | COL17A1 | c.3910+31G= (n.3910+31G=) c.186+31G= c.4156+31G= (n.4156+31G=) | |
10 | g.104033914C>G | CA2610796350 | COL17A1 | c.3910+31G>C (n.3910+31G>C) c.186+31G>C c.4156+31G>C (n.4156+31G>C) | gnomAD v4 |
10 | g.104033914C>T | CA932051073 | COL17A1 | c.3910+31G>A (n.3910+31G>A) c.186+31G>A c.4156+31G>A (n.4156+31G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033915C= | CA1933417718 | COL17A1 | c.3910+30G= (n.3910+30G=) c.186+30G= c.4156+30G= (n.4156+30G=) | |
10 | g.104033915C>T | CA5677698 | COL17A1 | c.3910+30G>A (n.3910+30G>A) c.186+30G>A c.4156+30G>A (n.4156+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033916A>C | CA2574660663 | COL17A1 | c.3910+29T>G (n.3910+29T>G) c.186+29T>G c.4156+29T>G (n.4156+29T>G) | |
10 | g.104033916A>G | CA2533034841 | COL17A1 | c.3910+29T>C (n.3910+29T>C) c.186+29T>C c.4156+29T>C (n.4156+29T>C) | |
10 | g.104033917G>A | CA2574660664 | COL17A1 | c.3910+28C>T (n.3910+28C>T) c.186+28C>T c.4156+28C>T (n.4156+28C>T) | |
10 | g.104033918C= | CA1933417721 | COL17A1 | c.3910+27G= (n.3910+27G=) c.186+27G= c.4156+27G= (n.4156+27G=) | |
10 | g.104033918C>T | CA659193509 | COL17A1 | c.3910+27G>A (n.3910+27G>A) c.186+27G>A c.4156+27G>A (n.4156+27G>A) | dbSNP |
10 | g.104033919A= | CA1933417724 | COL17A1 | c.3910+26T= (n.3910+26T=) c.186+26T= c.4156+26T= (n.4156+26T=) | |
10 | g.104033919A>G | CA1933417726 | COL17A1 | c.3910+26T>C (n.3910+26T>C) c.186+26T>C c.4156+26T>C (n.4156+26T>C) | dbSNP gnomAD v4 |
10 | g.104033920C= | CA1933417728 | COL17A1 | c.3910+25G= (n.3910+25G=) c.186+25G= c.4156+25G= (n.4156+25G=) | |
10 | g.104033920C>G | CA595672945 | COL17A1 | c.3910+25G>C (n.3910+25G>C) c.186+25G>C c.4156+25G>C (n.4156+25G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104033920C>T | CA2610796351 | COL17A1 | c.3910+25G>A (n.3910+25G>A) c.186+25G>A c.4156+25G>A (n.4156+25G>A) | gnomAD v4 |
10 | g.104033922A= | CA1933417733 | COL17A1 | c.3910+23T= (n.3910+23T=) c.186+23T= c.4156+23T= (n.4156+23T=) | |
10 | g.104033922A>G | CA595672946 | COL17A1 | c.3910+23T>C (n.3910+23T>C) c.186+23T>C c.4156+23T>C (n.4156+23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033922A>T | CA5677699 | COL17A1 | c.3910+23T>A (n.3910+23T>A) c.186+23T>A c.4156+23T>A (n.4156+23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033923A>G | CA2610796352 | COL17A1 | c.3910+22T>C (n.3910+22T>C) c.186+22T>C c.4156+22T>C (n.4156+22T>C) | gnomAD v4 |
10 | g.104033924G>A | CA2610796353 | COL17A1 | c.3910+21C>T (n.3910+21C>T) c.186+21C>T c.4156+21C>T (n.4156+21C>T) | gnomAD v4 |
10 | g.104033924G>T | CA2574660665 | COL17A1 | c.3910+21C>A (n.3910+21C>A) c.186+21C>A c.4156+21C>A (n.4156+21C>A) | |
10 | g.104033925G>A | CA2610796354 | COL17A1 | c.3910+20C>T (n.3910+20C>T) c.186+20C>T c.4156+20C>T (n.4156+20C>T) | gnomAD v4 |
10 | g.104033925G>C | CA5677701 | COL17A1 | c.3910+20C>G (n.3910+20C>G) c.186+20C>G c.4156+20C>G (n.4156+20C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033925G= | CA1933417735 | COL17A1 | c.3910+20C= (n.3910+20C=) c.186+20C= c.4156+20C= (n.4156+20C=) | |
10 | g.104033925G>T | CA5677700 | COL17A1 | c.3910+20C>A (n.3910+20C>A) c.186+20C>A c.4156+20C>A (n.4156+20C>A) | dbSNP ExAC gnomAD v2 |
10 | g.104033926C= | CA1933417738 | COL17A1 | c.3910+19G= (n.3910+19G=) c.186+19G= c.4156+19G= (n.4156+19G=) | |
10 | g.104033926C>G | CA659193517 | COL17A1 | c.3910+19G>C (n.3910+19G>C) c.186+19G>C c.4156+19G>C (n.4156+19G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033927C>T | CA2739275987 | COL17A1 | c.3910+18G>A (n.3910+18G>A) c.186+18G>A c.4156+18G>A (n.4156+18G>A) | ClinVar |
10 | g.104033928del | CA2610796355 | COL17A1 | c.3910+17del (n.3910+17del) c.186+17del c.4156+17del (n.4156+17del) | gnomAD v4 |
10 | g.104033929A>G | CA2574660666 | COL17A1 | c.3910+16T>C (n.3910+16T>C) c.186+16T>C c.4156+16T>C (n.4156+16T>C) | ClinVar gnomAD v4 |
10 | g.104033933G>A | CA595672947 | COL17A1 | c.3910+12C>T (n.3910+12C>T) c.186+12C>T c.4156+12C>T (n.4156+12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033933G= | CA1933417741 | COL17A1 | c.3910+12C= (n.3910+12C=) c.186+12C= c.4156+12C= (n.4156+12C=) | |
10 | g.104033935C= | CA1933417744 | COL17A1 | c.3910+10G= (n.3910+10G=) c.186+10G= c.4156+10G= (n.4156+10G=) | |
10 | g.104033935C>T | CA5677702 | COL17A1 | c.3910+10G>A (n.3910+10G>A) c.186+10G>A c.4156+10G>A (n.4156+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033936C= | CA1933417746 | COL17A1 | c.3910+9G= (n.3910+9G=) c.186+9G= c.4156+9G= (n.4156+9G=) | |
10 | g.104033936C>G | CA2610796356 | COL17A1 | c.3910+9G>C (n.3910+9G>C) c.186+9G>C c.4156+9G>C (n.4156+9G>C) | gnomAD v4 |
10 | g.104033936C>T | CA1933417747 | COL17A1 | c.3910+9G>A (n.3910+9G>A) c.186+9G>A c.4156+9G>A (n.4156+9G>A) | ClinVar dbSNP gnomAD v4 |
10 | g.104033937C= | CA1933417749 | COL17A1 | c.3910+8G= (n.3910+8G=) c.186+8G= c.4156+8G= (n.4156+8G=) | |
10 | g.104033937C>T | CA5677703 | COL17A1 | c.3910+8G>A (n.3910+8G>A) c.186+8G>A c.4156+8G>A (n.4156+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033938C= | CA1933417752 | COL17A1 | c.3910+7G= (n.3910+7G=) c.186+7G= c.4156+7G= (n.4156+7G=) | |
10 | g.104033938C>T | CA1933417754 | COL17A1 | c.3910+7G>A (n.3910+7G>A) c.186+7G>A c.4156+7G>A (n.4156+7G>A) | dbSNP |
10 | g.104033939A= | CA1933417756 | COL17A1 | c.3910+6T= (n.3910+6T=) c.186+6T= c.4156+6T= (n.4156+6T=) | |
10 | g.104033939A>T | CA5677704 | COL17A1 | c.3910+6T>A (n.3910+6T>A) c.186+6T>A c.4156+6T>A (n.4156+6T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033942T>A | CA212449780 | COL17A1 | c.3910+3A>T (n.3910+3A>T) c.186+3A>T c.4156+3A>T (n.4156+3A>T) | dbSNP |
10 | g.104033942T>G | CA212449784 | COL17A1 | c.3910+3A>C (n.3910+3A>C) c.186+3A>C c.4156+3A>C (n.4156+3A>C) | dbSNP |
10 | g.104033942T= | CA1933417758 | COL17A1 | c.3910+3A= (n.3910+3A=) c.186+3A= c.4156+3A= (n.4156+3A=) | |
10 | g.104033943A= | CA1933417764 | COL17A1 | c.3910+2T= (n.3910+2T=) c.186+2T= c.4156+2T= (n.4156+2T=) | |
10 | g.104033943A>C | CA378064849 | COL17A1 | c.3910+2T>G (n.3910+2T>G) c.186+2T>G c.4156+2T>G (n.4156+2T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033943A>G | CA378064850 | COL17A1 | c.3910+2T>C (n.3910+2T>C) c.186+2T>C c.4156+2T>C (n.4156+2T>C) | |
10 | g.104033943A>T | CA378064851 | COL17A1 | c.3910+2T>A (n.3910+2T>A) c.186+2T>A c.4156+2T>A (n.4156+2T>A) | |
10 | g.104033943_104033944insAA | CA2695201037 | COL17A1 | c.3910+2_3910+3insTT (n.3910+2_3910+3insTT) c.186+2_186+3insTT c.4156+2_4156+3insTT (n.4156+2_4156+3insTT) | ClinVar |
10 | g.104033943_104033944insGA | CA2610796357 | COL17A1 | c.3910+2_3910+3insCT (n.3910+2_3910+3insCT) c.186+2_186+3insCT c.4156+2_4156+3insCT (n.4156+2_4156+3insCT) | gnomAD v4 |
10 | g.104033943_104033944insGGA | CA659193535 | COL17A1 | c.3910+2_3910+3insCCT (n.3910+2_3910+3insCCT) c.186+2_186+3insCCT c.4156+2_4156+3insCCT (n.4156+2_4156+3insCCT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033943dup | CA1933417762 | COL17A1 | c.3910+2dup (n.3910+2dup) c.186+2dup c.4156+2dup (n.4156+2dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033944C>A | CA378064852 | COL17A1 | c.3910+1G>T (n.3910+1G>T) c.186+1G>T c.4156+1G>T (n.4156+1G>T) | |
10 | g.104033944C= | CA1933417769 | COL17A1 | c.3910+1G= (n.3910+1G=) c.186+1G= c.4156+1G= (n.4156+1G=) | |
10 | g.104033944C>G | CA5677706 | COL17A1 | c.3910+1G>C (n.3910+1G>C) c.186+1G>C c.4156+1G>C (n.4156+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033944C>T | CA5677705 | COL17A1 | c.3910+1G>A (n.3910+1G>A) c.186+1G>A c.4156+1G>A (n.4156+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033945G>A | CA378064853 | COL17A1 | c.3910C>T (p.Arg1304Cys) c.186C>T c.4156C>T (p.Arg1386Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.104033945G>C | CA5677707 | COL17A1 | c.3910C>G (p.Arg1304Gly) c.186C>G c.4156C>G (p.Arg1386Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033945G= | CA1933417775 | COL17A1 | c.3910C= (p.Arg1304=) c.186C= c.4156C= (p.Arg1386=) | |
10 | g.104033945G>T | CA378064854 | COL17A1 | c.3910C>A (p.Arg1304Ser) c.186C>A c.4156C>A (p.Arg1386Ser) | dbSNP gnomAD v4 COSMIC |
10 | g.104033946C>A | CA378064855 | COL17A1 | c.3909G>T (p.Gln1303His) c.185G>T c.4155G>T (p.Gln1385His) | |
10 | g.104033946C>G | CA378064856 | COL17A1 | c.3909G>C (p.Gln1303His) c.185G>C c.4155G>C (p.Gln1385His) | |
10 | g.104033946C>T | CA471341398 | COL17A1 | c.3909G>A (p.Gln1303=) c.185G>A c.4155G>A (p.Gln1385=) | gnomAD v4 |
10 | g.104033947T>A | CA378064857 | COL17A1 | c.3908A>T (p.Gln1303Leu) c.184A>T c.4154A>T (p.Gln1385Leu) | |
10 | g.104033947T>C | CA378064858 | COL17A1 | c.3908A>G (p.Gln1303Arg) c.184A>G c.4154A>G (p.Gln1385Arg) | |
10 | g.104033947T>G | CA378064859 | COL17A1 | c.3908A>C (p.Gln1303Pro) c.184A>C c.4154A>C (p.Gln1385Pro) | |
10 | g.104033948G>A | CA378064860 | COL17A1 | c.3907C>T (p.Gln1303Ter) c.183C>T c.4153C>T (p.Gln1385Ter) | |
10 | g.104033948G>C | CA378064861 | COL17A1 | c.3907C>G (p.Gln1303Glu) c.183C>G c.4153C>G (p.Gln1385Glu) | |
10 | g.104033948G>T | CA378064862 | COL17A1 | c.3907C>A (p.Gln1303Lys) c.183C>A c.4153C>A (p.Gln1385Lys) | |
10 | g.104033949C>A | CA378064864 | COL17A1 | c.3906G>T (p.Met1302Ile) c.182G>T c.4152G>T (p.Met1384Ile) | |
10 | g.104033949C= | CA1933417779 | COL17A1 | c.3906G= (p.Met1302=) c.182G= c.4152G= (p.Met1384=) | |
10 | g.104033949C>G | CA378064865 | COL17A1 | c.3906G>C (p.Met1302Ile) c.182G>C c.4152G>C (p.Met1384Ile) | |
10 | g.104033949C>T | CA378064863 | COL17A1 | c.3906G>A (p.Met1302Ile) c.182G>A c.4152G>A (p.Met1384Ile) | dbSNP gnomAD v4 |
10 | g.104033950A>C | CA378064866 | COL17A1 | c.3905T>G (p.Met1302Arg) c.181T>G c.4151T>G (p.Met1384Arg) | |
10 | g.104033950A>G | CA378064867 | COL17A1 | c.3905T>C (p.Met1302Thr) c.181T>C c.4151T>C (p.Met1384Thr) | |
10 | g.104033950A>T | CA378064868 | COL17A1 | c.3905T>A (p.Met1302Lys) c.181T>A c.4151T>A (p.Met1384Lys) | |
10 | g.104033951T>A | CA378064869 | COL17A1 | c.3904A>T (p.Met1302Leu) c.180A>T c.4150A>T (p.Met1384Leu) | |
10 | g.104033951T>C | CA378064870 | COL17A1 | c.3904A>G (p.Met1302Val) c.180A>G c.4150A>G (p.Met1384Val) | |
10 | g.104033951T>G | CA378064871 | COL17A1 | c.3904A>C (p.Met1302Leu) c.180A>C c.4150A>C (p.Met1384Leu) | |
10 | g.104033952G>A | CA471341405 | COL17A1 | c.3903C>T (p.Ser1301=) c.179C>T c.4149C>T (p.Ser1383=) | ClinVar gnomAD v4 |
10 | g.104033952G>C | CA378064872 | COL17A1 | c.3903C>G (p.Ser1301Arg) c.179C>G c.4149C>G (p.Ser1383Arg) | |
10 | g.104033952G>T | CA378064873 | COL17A1 | c.3903C>A (p.Ser1301Arg) c.179C>A c.4149C>A (p.Ser1383Arg) | |
10 | g.104033952_104033956delinsGCTCT | CA1933417782 | COL17A1 | c.3899_3903delinsAGAGC (p.Glu1300=) c.175_179delinsAGAGC c.4145_4149delinsAGAGC (p.Glu1382=) | |
10 | g.104033953C>A | CA378064874 | COL17A1 | c.3902G>T (p.Ser1301Ile) c.178G>T c.4148G>T (p.Ser1383Ile) | |
10 | g.104033953C>G | CA378064875 | COL17A1 | c.3902G>C (p.Ser1301Thr) c.178G>C c.4148G>C (p.Ser1383Thr) | |
10 | g.104033953C>T | CA378064876 | COL17A1 | c.3902G>A (p.Ser1301Asn) c.178G>A c.4148G>A (p.Ser1383Asn) | |
10 | g.104033957_104033958del | CA2580616866 | COL17A1 | c.3901_3902del (p.Ser1301HisfsTer?) c.177_178del c.4147_4148del (p.Ser1383HisfsTer?) | ClinVar gnomAD v4 |
10 | g.104033955_104033958del | CA5677708 | COL17A1 | c.3899_3902del (p.Glu1300AlafsTer?) c.175_178del c.4145_4148del (p.Glu1382AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033954T>A | CA378064878 | COL17A1 | c.3901A>T (p.Ser1301Cys) c.177A>T c.4147A>T (p.Ser1383Cys) | |
10 | g.104033954T>C | CA378064879 | COL17A1 | c.3901A>G (p.Ser1301Gly) c.177A>G c.4147A>G (p.Ser1383Gly) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033954T>G | CA378064877 | COL17A1 | c.3901A>C (p.Ser1301Arg) c.177A>C c.4147A>C (p.Ser1383Arg) | |
10 | g.104033954T= | CA1933417792 | COL17A1 | c.3901A= (p.Ser1301=) c.177A= c.4147A= (p.Ser1383=) | |
10 | g.104033955C>A | CA378064880 | COL17A1 | c.3900G>T (p.Glu1300Asp) c.176G>T c.4146G>T (p.Glu1382Asp) | |
10 | g.104033955C= | CA1933417796 | COL17A1 | c.3900G= (p.Glu1300=) c.176G= c.4146G= (p.Glu1382=) | |
10 | g.104033955C>G | CA378064881 | COL17A1 | c.3900G>C (p.Glu1300Asp) c.176G>C c.4146G>C (p.Glu1382Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104033955C>T | CA471341407 | COL17A1 | c.3900G>A (p.Glu1300=) c.176G>A c.4146G>A (p.Glu1382=) | gnomAD v4 |
10 | g.104033956T>A | CA378064882 | COL17A1 | c.3899A>T (p.Glu1300Val) c.175A>T c.4145A>T (p.Glu1382Val) | |
10 | g.104033956T>C | CA378064883 | COL17A1 | c.3899A>G (p.Glu1300Gly) c.175A>G c.4145A>G (p.Glu1382Gly) | |
10 | g.104033956T>G | CA378064884 | COL17A1 | c.3899A>C (p.Glu1300Ala) c.175A>C c.4145A>C (p.Glu1382Ala) | |
10 | g.104033957C>A | CA378064887 | COL17A1 | c.3898G>T (p.Glu1300Ter) c.174G>T c.4144G>T (p.Glu1382Ter) | |
10 | g.104033957C>G | CA378064885 | COL17A1 | c.3898G>C (p.Glu1300Gln) c.174G>C c.4144G>C (p.Glu1382Gln) | |
10 | g.104033957C>T | CA378064886 | COL17A1 | c.3898G>A (p.Glu1300Lys) c.174G>A c.4144G>A (p.Glu1382Lys) | |
10 | g.104033958T>A | CA471341413 | COL17A1 | c.3897A>T (p.Ser1299=) c.173A>T c.4143A>T (p.Ser1381=) | |
10 | g.104033958T>C | CA471341412 | COL17A1 | c.3897A>G (p.Ser1299=) c.173A>G c.4143A>G (p.Ser1381=) | gnomAD v4 |
10 | g.104033958T>G | CA471341411 | COL17A1 | c.3897A>C (p.Ser1299=) c.173A>C c.4143A>C (p.Ser1381=) | |
10 | g.104033959G>A | CA378064888 | COL17A1 | c.3896C>T (p.Ser1299Leu) c.172C>T c.4142C>T (p.Ser1381Leu) | ClinVar dbSNP |
10 | g.104033959G>C | CA378064889 | COL17A1 | c.3896C>G (p.Ser1299Ter) c.172C>G c.4142C>G (p.Ser1381Ter) | |
10 | g.104033959G= | CA1933417799 | COL17A1 | c.3896C= (p.Ser1299=) c.172C= c.4142C= (p.Ser1381=) | |
10 | g.104033959G>T | CA378064890 | COL17A1 | c.3896C>A (p.Ser1299Ter) c.172C>A c.4142C>A (p.Ser1381Ter) | |
10 | g.104033960del | CA2610796358 | COL17A1 | c.3895del (p.Ser1299GlnfsTer?) c.171del c.4141del (p.Ser1381GlnfsTer?) | gnomAD v4 |
10 | g.104033960A>C | CA378064891 | COL17A1 | c.3895T>G (p.Ser1299Ala) c.171T>G c.4141T>G (p.Ser1381Ala) | |
10 | g.104033960A>G | CA378064892 | COL17A1 | c.3895T>C (p.Ser1299Pro) c.171T>C c.4141T>C (p.Ser1381Pro) | |
10 | g.104033960A>T | CA378064893 | COL17A1 | c.3895T>A (p.Ser1299Thr) c.171T>A c.4141T>A (p.Ser1381Thr) | |
10 | g.104033961C>A | CA471341414 | COL17A1 | c.3894G>T (p.Val1298=) c.170G>T c.4140G>T (p.Val1380=) | |
10 | g.104033961C>G | CA471341416 | COL17A1 | c.3894G>C (p.Val1298=) c.170G>C c.4140G>C (p.Val1380=) | |
10 | g.104033961C>T | CA471341418 | COL17A1 | c.3894G>A (p.Val1298=) c.170G>A c.4140G>A (p.Val1380=) | |
10 | g.104033962A= | CA1933417804 | COL17A1 | c.3893T= (p.Val1298=) c.169T= c.4139T= (p.Val1380=) | |
10 | g.104033962A>C | CA5677709 | COL17A1 | c.3893T>G (p.Val1298Gly) c.169T>G c.4139T>G (p.Val1380Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033962A>G | CA378064895 | COL17A1 | c.3893T>C (p.Val1298Ala) c.169T>C c.4139T>C (p.Val1380Ala) | |
10 | g.104033962A>T | CA378064894 | COL17A1 | c.3893T>A (p.Val1298Glu) c.169T>A c.4139T>A (p.Val1380Glu) | |
10 | g.104033963C>A | CA378064896 | COL17A1 | c.3892G>T (p.Val1298Leu) c.168G>T c.4138G>T (p.Val1380Leu) | |
10 | g.104033963C>G | CA378064897 | COL17A1 | c.3892G>C (p.Val1298Leu) c.168G>C c.4138G>C (p.Val1380Leu) | |
10 | g.104033963C>T | CA378064898 | COL17A1 | c.3892G>A (p.Val1298Met) c.168G>A c.4138G>A (p.Val1380Met) | |
10 | g.104033964C>A | CA378064899 | COL17A1 | c.3891G>T (p.Arg1297Ser) c.167G>T c.4137G>T (p.Arg1379Ser) | |
10 | g.104033964C= | CA1933417809 | COL17A1 | c.3891G= (p.Arg1297=) c.167G= c.4137G= (p.Arg1379=) | |
10 | g.104033964C>G | CA378064900 | COL17A1 | c.3891G>C (p.Arg1297Ser) c.167G>C c.4137G>C (p.Arg1379Ser) | |
10 | g.104033964C>T | CA212449799 | COL17A1 | c.3891G>A (p.Arg1297=) c.167G>A c.4137G>A (p.Arg1379=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033965C>A | CA378064901 | COL17A1 | c.3890G>T (p.Arg1297Met) c.166G>T c.4136G>T (p.Arg1379Met) | |
10 | g.104033965C= | CA1933417812 | COL17A1 | c.3890G= (p.Arg1297=) c.166G= c.4136G= (p.Arg1379=) | |
10 | g.104033965C>G | CA5677710 | COL17A1 | c.3890G>C (p.Arg1297Thr) c.166G>C c.4136G>C (p.Arg1379Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033965C>T | CA378064902 | COL17A1 | c.3890G>A (p.Arg1297Lys) c.166G>A c.4136G>A (p.Arg1379Lys) | gnomAD v4 |
10 | g.104033966T>A | CA378064903 | COL17A1 | c.3889A>T (p.Arg1297Trp) c.165A>T c.4135A>T (p.Arg1379Trp) | |
10 | g.104033966T>C | CA378064904 | COL17A1 | c.3889A>G (p.Arg1297Gly) c.165A>G c.4135A>G (p.Arg1379Gly) | |
10 | g.104033966T>G | CA471341422 | COL17A1 | c.3889A>C (p.Arg1297=) c.165A>C c.4135A>C (p.Arg1379=) | |
10 | g.104033967C>A | CA471341424 | COL17A1 | c.3888G>T (p.Val1296=) c.164G>T c.4134G>T (p.Val1378=) | |
10 | g.104033967C>G | CA471341426 | COL17A1 | c.3888G>C (p.Val1296=) c.164G>C c.4134G>C (p.Val1378=) | |
10 | g.104033967C>T | CA471341427 | COL17A1 | c.3888G>A (p.Val1296=) c.164G>A c.4134G>A (p.Val1378=) | gnomAD v4 |
10 | g.104033968A>C | CA378064905 | COL17A1 | c.3887T>G (p.Val1296Gly) c.163T>G c.4133T>G (p.Val1378Gly) | |
10 | g.104033968A>G | CA378064906 | COL17A1 | c.3887T>C (p.Val1296Ala) c.163T>C c.4133T>C (p.Val1378Ala) | |
10 | g.104033968A>T | CA378064907 | COL17A1 | c.3887T>A (p.Val1296Glu) c.163T>A c.4133T>A (p.Val1378Glu) | |
10 | g.104033968dup | CA2697558752 | COL17A1 | c.3887dup (p.Arg1297GlufsTer?) c.163dup c.4133dup (p.Arg1379GlufsTer?) | ClinVar |
10 | g.104033969C>A | CA378064910 | COL17A1 | c.3886G>T (p.Val1296Leu) c.162G>T c.4132G>T (p.Val1378Leu) | |
10 | g.104033969C>G | CA378064909 | COL17A1 | c.3886G>C (p.Val1296Leu) c.162G>C c.4132G>C (p.Val1378Leu) | gnomAD v4 |
10 | g.104033969C>T | CA378064908 | COL17A1 | c.3886G>A (p.Val1296Met) c.162G>A c.4132G>A (p.Val1378Met) | |
10 | g.104033970A>C | CA471341429 | COL17A1 | c.3885T>G (p.Ala1295=) c.161T>G c.4131T>G (p.Ala1377=) | |
10 | g.104033970A>G | CA471341431 | COL17A1 | c.3885T>C (p.Ala1295=) c.161T>C c.4131T>C (p.Ala1377=) | |
10 | g.104033970A>T | CA471341430 | COL17A1 | c.3885T>A (p.Ala1295=) c.161T>A c.4131T>A (p.Ala1377=) | |
10 | g.104033971G>A | CA378064911 | COL17A1 | c.3884C>T (p.Ala1295Val) c.160C>T c.4130C>T (p.Ala1377Val) | |
10 | g.104033971G>C | CA378064912 | COL17A1 | c.3884C>G (p.Ala1295Gly) c.160C>G c.4130C>G (p.Ala1377Gly) | |
10 | g.104033971G>T | CA378064913 | COL17A1 | c.3884C>A (p.Ala1295Asp) c.160C>A c.4130C>A (p.Ala1377Asp) | gnomAD v4 |
10 | g.104033972C>A | CA378064914 | COL17A1 | c.3883G>T (p.Ala1295Ser) c.159G>T c.4129G>T (p.Ala1377Ser) | |
10 | g.104033972C= | CA1933417819 | COL17A1 | c.3883G= (p.Ala1295=) c.159G= c.4129G= (p.Ala1377=) | |
10 | g.104033972C>G | CA378064915 | COL17A1 | c.3883G>C (p.Ala1295Pro) c.159G>C c.4129G>C (p.Ala1377Pro) | gnomAD v4 |
10 | g.104033972C>T | CA378064916 | COL17A1 | c.3883G>A (p.Ala1295Thr) c.159G>A c.4129G>A (p.Ala1377Thr) | dbSNP |
10 | g.104033973C>A | CA471341433 | COL17A1 | c.3882G>T (p.Leu1294=) c.158G>T c.4128G>T (p.Leu1376=) | |
10 | g.104033973C= | CA1933417825 | COL17A1 | c.3882G= (p.Leu1294=) c.158G= c.4128G= (p.Leu1376=) | |
10 | g.104033973C>G | CA5677712 | COL17A1 | c.3882G>C (p.Leu1294=) c.158G>C c.4128G>C (p.Leu1376=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033973C>T | CA5677711 | COL17A1 | c.3882G>A (p.Leu1294=) c.158G>A c.4128G>A (p.Leu1376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033974A>C | CA378064917 | COL17A1 | c.3881T>G (p.Leu1294Arg) c.157T>G c.4127T>G (p.Leu1376Arg) | |
10 | g.104033974A>G | CA378064918 | COL17A1 | c.3881T>C (p.Leu1294Pro) c.157T>C c.4127T>C (p.Leu1376Pro) | |
10 | g.104033974A>T | CA378064919 | COL17A1 | c.3881T>A (p.Leu1294Gln) c.157T>A c.4127T>A (p.Leu1376Gln) | |
10 | g.104033975G>A | CA212449818 | COL17A1 | c.3880C>T (p.Leu1294=) c.156C>T c.4126C>T (p.Leu1376=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033975G>C | CA378064920 | COL17A1 | c.3880C>G (p.Leu1294Val) c.156C>G c.4126C>G (p.Leu1376Val) | |
10 | g.104033975G= | CA1933417829 | COL17A1 | c.3880C= (p.Leu1294=) c.156C= c.4126C= (p.Leu1376=) | |
10 | g.104033975G>T | CA378064921 | COL17A1 | c.3880C>A (p.Leu1294Met) c.156C>A c.4126C>A (p.Leu1376Met) | |
10 | g.104033976C>A | CA378064922 | COL17A1 | c.3879G>T (p.Glu1293Asp) c.155G>T c.4125G>T (p.Glu1375Asp) | gnomAD v4 |
10 | g.104033976C>G | CA378064923 | COL17A1 | c.3879G>C (p.Glu1293Asp) c.155G>C c.4125G>C (p.Glu1375Asp) | |
10 | g.104033976C>T | CA471341439 | COL17A1 | c.3879G>A (p.Glu1293=) c.155G>A c.4125G>A (p.Glu1375=) | |
10 | g.104033977T>A | CA378064925 | COL17A1 | c.3878A>T (p.Glu1293Val) c.154A>T c.4124A>T (p.Glu1375Val) | |
10 | g.104033977T>C | CA378064926 | COL17A1 | c.3878A>G (p.Glu1293Gly) c.154A>G c.4124A>G (p.Glu1375Gly) | |
10 | g.104033977T>G | CA378064924 | COL17A1 | c.3878A>C (p.Glu1293Ala) c.154A>C c.4124A>C (p.Glu1375Ala) | |
10 | g.104033978C>A | CA378064927 | COL17A1 | c.3877G>T (p.Glu1293Ter) c.153G>T c.4123G>T (p.Glu1375Ter) | |
10 | g.104033978C>G | CA378064928 | COL17A1 | c.3877G>C (p.Glu1293Gln) c.153G>C c.4123G>C (p.Glu1375Gln) | gnomAD v4 |
10 | g.104033978C>T | CA378064929 | COL17A1 | c.3877G>A (p.Glu1293Lys) c.153G>A c.4123G>A (p.Glu1375Lys) | gnomAD v4 |
10 | g.104033979A= | CA1933417831 | COL17A1 | c.3876T= (p.Asn1292=) c.152T= c.4122T= (p.Asn1374=) | |
10 | g.104033979A>C | CA378064930 | COL17A1 | c.3876T>G (p.Asn1292Lys) c.152T>G c.4122T>G (p.Asn1374Lys) | dbSNP gnomAD v4 |
10 | g.104033979A>G | CA5677713 | COL17A1 | c.3876T>C (p.Asn1292=) c.152T>C c.4122T>C (p.Asn1374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033979A>T | CA378064931 | COL17A1 | c.3876T>A (p.Asn1292Lys) c.152T>A c.4122T>A (p.Asn1374Lys) | |
10 | g.104033980T>A | CA378064934 | COL17A1 | c.3875A>T (p.Asn1292Ile) c.151A>T c.4121A>T (p.Asn1374Ile) | |
10 | g.104033980T>C | CA378064932 | COL17A1 | c.3875A>G (p.Asn1292Ser) c.151A>G c.4121A>G (p.Asn1374Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033980T>G | CA378064933 | COL17A1 | c.3875A>C (p.Asn1292Thr) c.151A>C c.4121A>C (p.Asn1374Thr) | |
10 | g.104033980T= | CA1933417835 | COL17A1 | c.3875A= (p.Asn1292=) c.151A= c.4121A= (p.Asn1374=) | |
10 | g.104033981T>A | CA378064935 | COL17A1 | c.3874A>T (p.Asn1292Tyr) c.150A>T c.4120A>T (p.Asn1374Tyr) | |
10 | g.104033981T>C | CA5677714 | COL17A1 | c.3874A>G (p.Asn1292Asp) c.150A>G c.4120A>G (p.Asn1374Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033981T>G | CA378064936 | COL17A1 | c.3874A>C (p.Asn1292His) c.150A>C c.4120A>C (p.Asn1374His) | |
10 | g.104033981T= | CA1933417837 | COL17A1 | c.3874A= (p.Asn1292=) c.150A= c.4120A= (p.Asn1374=) | |
10 | g.104033982G>A | CA471341463 | COL17A1 | c.3873C>T (p.Tyr1291=) c.149C>T c.4119C>T (p.Tyr1373=) | gnomAD v4 |
10 | g.104033982G>C | CA378064937 | COL17A1 | c.3873C>G (p.Tyr1291Ter) c.149C>G c.4119C>G (p.Tyr1373Ter) | |
10 | g.104033982G>T | CA378064938 | COL17A1 | c.3873C>A (p.Tyr1291Ter) c.149C>A c.4119C>A (p.Tyr1373Ter) | |
10 | g.104033983T>A | CA378064939 | COL17A1 | c.3872A>T (p.Tyr1291Phe) c.148A>T c.4118A>T (p.Tyr1373Phe) | |
10 | g.104033983T>C | CA378064941 | COL17A1 | c.3872A>G (p.Tyr1291Cys) c.148A>G c.4118A>G (p.Tyr1373Cys) | |
10 | g.104033983T>G | CA378064940 | COL17A1 | c.3872A>C (p.Tyr1291Ser) c.148A>C c.4118A>C (p.Tyr1373Ser) | |
10 | g.104033984A= | CA1933417843 | COL17A1 | c.3871T= (p.Tyr1291=) c.147T= c.4117T= (p.Tyr1373=) | |
10 | g.104033984A>C | CA378064942 | COL17A1 | c.3871T>G (p.Tyr1291Asp) c.147T>G c.4117T>G (p.Tyr1373Asp) | |
10 | g.104033984A>G | CA5677715 | COL17A1 | c.3871T>C (p.Tyr1291His) c.147T>C c.4117T>C (p.Tyr1373His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033984A>T | CA378064943 | COL17A1 | c.3871T>A (p.Tyr1291Asn) c.147T>A c.4117T>A (p.Tyr1373Asn) | |
10 | g.104033985A>C | CA378064944 | COL17A1 | c.3870T>G (p.Asp1290Glu) c.146T>G c.4116T>G (p.Asp1372Glu) | |
10 | g.104033985A>G | CA471341475 | COL17A1 | c.3870T>C (p.Asp1290=) c.146T>C c.4116T>C (p.Asp1372=) | |
10 | g.104033985A>T | CA378064945 | COL17A1 | c.3870T>A (p.Asp1290Glu) c.146T>A c.4116T>A (p.Asp1372Glu) | |
10 | g.104033986T>A | CA378064946 | COL17A1 | c.3869A>T (p.Asp1290Val) c.145A>T c.4115A>T (p.Asp1372Val) | |
10 | g.104033986T>C | CA378064947 | COL17A1 | c.3869A>G (p.Asp1290Gly) c.145A>G c.4115A>G (p.Asp1372Gly) | |
10 | g.104033986T>G | CA378064948 | COL17A1 | c.3869A>C (p.Asp1290Ala) c.145A>C c.4115A>C (p.Asp1372Ala) | |
10 | g.104033987C>A | CA5677716 | COL17A1 | c.3868G>T (p.Asp1290Tyr) c.144G>T c.4114G>T (p.Asp1372Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033987C= | CA1933417847 | COL17A1 | c.3868G= (p.Asp1290=) c.144G= c.4114G= (p.Asp1372=) | |
10 | g.104033987C>G | CA378064949 | COL17A1 | c.3868G>C (p.Asp1290His) c.144G>C c.4114G>C (p.Asp1372His) | dbSNP |
10 | g.104033987C>T | CA378064950 | COL17A1 | c.3868G>A (p.Asp1290Asn) c.144G>A c.4114G>A (p.Asp1372Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033988C>A | CA471341490 | COL17A1 | c.3867G>T (p.Leu1289=) c.143G>T c.4113G>T (p.Leu1371=) | |
10 | g.104033988C>G | CA471341493 | COL17A1 | c.3867G>C (p.Leu1289=) c.143G>C c.4113G>C (p.Leu1371=) | |
10 | g.104033988C>T | CA471341494 | COL17A1 | c.3867G>A (p.Leu1289=) c.143G>A c.4113G>A (p.Leu1371=) | |
10 | g.104033989A= | CA1933417848 | COL17A1 | c.3866T= (p.Leu1289=) c.142T= c.4112T= (p.Leu1371=) | |
10 | g.104033989A>C | CA378064953 | COL17A1 | c.3866T>G (p.Leu1289Arg) c.142T>G c.4112T>G (p.Leu1371Arg) | |
10 | g.104033989A>G | CA378064951 | COL17A1 | c.3866T>C (p.Leu1289Pro) c.142T>C c.4112T>C (p.Leu1371Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033989A>T | CA378064952 | COL17A1 | c.3866T>A (p.Leu1289Gln) c.142T>A c.4112T>A (p.Leu1371Gln) | |
10 | g.104033990G>A | CA471341502 | COL17A1 | c.3865C>T (p.Leu1289=) c.141C>T c.4111C>T (p.Leu1371=) | ClinVar |
10 | g.104033990G>C | CA378064954 | COL17A1 | c.3865C>G (p.Leu1289Val) c.141C>G c.4111C>G (p.Leu1371Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033990G= | CA1933417851 | COL17A1 | c.3865C= (p.Leu1289=) c.141C= c.4111C= (p.Leu1371=) | |
10 | g.104033990G>T | CA378064955 | COL17A1 | c.3865C>A (p.Leu1289Met) c.141C>A c.4111C>A (p.Leu1371Met) | gnomAD v4 |
10 | g.104033991A= | CA1933417853 | COL17A1 | c.3864T= (p.Asp1288=) c.140T= c.4110T= (p.Asp1370=) | |
10 | g.104033991A>C | CA378064956 | COL17A1 | c.3864T>G (p.Asp1288Glu) c.140T>G c.4110T>G (p.Asp1370Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104033991A>G | CA471341508 | COL17A1 | c.3864T>C (p.Asp1288=) c.140T>C c.4110T>C (p.Asp1370=) | ClinVar gnomAD v4 |
10 | g.104033991A>T | CA212449847 | COL17A1 | c.3864T>A (p.Asp1288Glu) c.140T>A c.4110T>A (p.Asp1370Glu) | dbSNP gnomAD v4 |
10 | g.104033992T>A | CA378064957 | COL17A1 | c.3863A>T (p.Asp1288Val) c.139A>T c.4109A>T (p.Asp1370Val) | |
10 | g.104033992T>C | CA5677717 | COL17A1 | c.3863A>G (p.Asp1288Gly) c.139A>G c.4109A>G (p.Asp1370Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104033992T>G | CA5677718 | COL17A1 | c.3863A>C (p.Asp1288Ala) c.139A>C c.4109A>C (p.Asp1370Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104033992T= | CA1933417858 | COL17A1 | c.3863A= (p.Asp1288=) c.139A= c.4109A= (p.Asp1370=) | |
10 | g.104033993C>A | CA378064960 | COL17A1 | c.3862G>T (p.Asp1288Tyr) c.138G>T c.4108G>T (p.Asp1370Tyr) | |
10 | g.104033993C>G | CA378064959 | COL17A1 | c.3862G>C (p.Asp1288His) c.138G>C c.4108G>C (p.Asp1370His) | |
10 | g.104033993C>T | CA378064958 | COL17A1 | c.3862G>A (p.Asp1288Asn) c.138G>A c.4108G>A (p.Asp1370Asn) | gnomAD v4 COSMIC |
10 | g.104033994T>A | CA471341525 | COL17A1 | c.3861A>T (p.Gly1287=) c.137A>T c.4107A>T (p.Gly1369=) | |
10 | g.104033994T>C | CA471341528 | COL17A1 | c.3861A>G (p.Gly1287=) c.137A>G c.4107A>G (p.Gly1369=) | |
10 | g.104033994T>G | CA471341529 | COL17A1 | c.3861A>C (p.Gly1287=) c.137A>C c.4107A>C (p.Gly1369=) | gnomAD v4 |
10 | g.104033995C>A | CA378064961 | COL17A1 | c.3860G>T (p.Gly1287Val) c.136G>T c.4106G>T (p.Gly1369Val) | |
10 | g.104033995C>G | CA378064962 | COL17A1 | c.3860G>C (p.Gly1287Ala) c.136G>C c.4106G>C (p.Gly1369Ala) | |
10 | g.104033995C>T | CA378064963 | COL17A1 | c.3860G>A (p.Gly1287Glu) c.136G>A c.4106G>A (p.Gly1369Glu) | gnomAD v4 |
10 | g.104033996C>A | CA378064964 | COL17A1 | c.3859G>T (p.Gly1287Ter) c.135G>T c.4105G>T (p.Gly1369Ter) | |
10 | g.104033996C>G | CA378064965 | COL17A1 | c.3859G>C (p.Gly1287Arg) c.135G>C c.4105G>C (p.Gly1369Arg) | |
10 | g.104033996C>T | CA378064966 | COL17A1 | c.3859G>A (p.Gly1287Arg) c.135G>A c.4105G>A (p.Gly1369Arg) | gnomAD v4 |
10 | g.104033997A>C | CA471341538 | COL17A1 | c.3858T>G (p.Ala1286=) c.134T>G c.4104T>G (p.Ala1368=) | |
10 | g.104033997A>G | CA471341540 | COL17A1 | c.3858T>C (p.Ala1286=) c.134T>C c.4104T>C (p.Ala1368=) | |
10 | g.104033997A>T | CA471341542 | COL17A1 | c.3858T>A (p.Ala1286=) c.134T>A c.4104T>A (p.Ala1368=) | |
10 | g.104033998G>A | CA378064967 | COL17A1 | c.3857C>T (p.Ala1286Val) c.133C>T c.4103C>T (p.Ala1368Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104033998G>C | CA378064969 | COL17A1 | c.3857C>G (p.Ala1286Gly) c.133C>G c.4103C>G (p.Ala1368Gly) | |
10 | g.104033998G= | CA1933417863 | COL17A1 | c.3857C= (p.Ala1286=) c.133C= c.4103C= (p.Ala1368=) | |
10 | g.104033998G>T | CA378064968 | COL17A1 | c.3857C>A (p.Ala1286Asp) c.133C>A c.4103C>A (p.Ala1368Asp) | |
10 | g.104033999C>A | CA378064970 | COL17A1 | c.3856G>T (p.Ala1286Ser) c.132G>T c.4102G>T (p.Ala1368Ser) | |
10 | g.104033999C>G | CA378064971 | COL17A1 | c.3856G>C (p.Ala1286Pro) c.132G>C c.4102G>C (p.Ala1368Pro) | gnomAD v4 |
10 | g.104033999C>T | CA378064972 | COL17A1 | c.3856G>A (p.Ala1286Thr) c.132G>A c.4102G>A (p.Ala1368Thr) | |
10 | g.104034000A>C | CA378064973 | COL17A1 | c.3855T>G (p.Phe1285Leu) c.131T>G c.4101T>G (p.Phe1367Leu) | |
10 | g.104034000A>G | CA471341551 | COL17A1 | c.3855T>C (p.Phe1285=) c.131T>C c.4101T>C (p.Phe1367=) | |
10 | g.104034000A>T | CA378064974 | COL17A1 | c.3855T>A (p.Phe1285Leu) c.131T>A c.4101T>A (p.Phe1367Leu) | |
10 | g.104034001_104034002del | CA2695212671 | COL17A1 | c.3854_3855del (p.Phe1285CysfsTer8) c.130_131del c.4100_4101del (p.Phe1367CysfsTer8) | |
10 | g.104034001A= | CA1933417866 | COL17A1 | c.3854T= (p.Phe1285=) c.130T= c.4100T= (p.Phe1367=) | |
10 | g.104034001A>C | CA378064975 | COL17A1 | c.3854T>G (p.Phe1285Cys) c.130T>G c.4100T>G (p.Phe1367Cys) | |
10 | g.104034001A>G | CA10630890 | COL17A1 | c.3854T>C (p.Phe1285Ser) c.130T>C c.4100T>C (p.Phe1367Ser) | ClinVar dbSNP |
10 | g.104034001A>T | CA378064976 | COL17A1 | c.3854T>A (p.Phe1285Tyr) c.130T>A c.4100T>A (p.Phe1367Tyr) | |
10 | g.104034002A= | CA1933417869 | COL17A1 | c.3853T= (p.Phe1285=) c.129T= c.4099T= (p.Phe1367=) | |
10 | g.104034002A>C | CA378064977 | COL17A1 | c.3853T>G (p.Phe1285Val) c.129T>G c.4099T>G (p.Phe1367Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104034002A>G | CA378064978 | COL17A1 | c.3853T>C (p.Phe1285Leu) c.129T>C c.4099T>C (p.Phe1367Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104034002A>T | CA378064979 | COL17A1 | c.3853T>A (p.Phe1285Ile) c.129T>A c.4099T>A (p.Phe1367Ile) | |
10 | g.104034003G>A | CA471341561 | COL17A1 | c.3852C>T (p.Asp1284=) c.128C>T c.4098C>T (p.Asp1366=) | |
10 | g.104034003G>C | CA378064981 | COL17A1 | c.3852C>G (p.Asp1284Glu) c.128C>G c.4098C>G (p.Asp1366Glu) | |
10 | g.104034003G>T | CA378064980 | COL17A1 | c.3852C>A (p.Asp1284Glu) c.128C>A c.4098C>A (p.Asp1366Glu) | |
10 | g.104034004T>A | CA378064982 | COL17A1 | c.3851A>T (p.Asp1284Val) c.127A>T c.4097A>T (p.Asp1366Val) | |
10 | g.104034004T>C | CA378064983 | COL17A1 | c.3851A>G (p.Asp1284Gly) c.127A>G c.4097A>G (p.Asp1366Gly) | |
10 | g.104034004T>G | CA378064984 | COL17A1 | c.3851A>C (p.Asp1284Ala) c.127A>C c.4097A>C (p.Asp1366Ala) |