10 | g.104052948_104052979del | CA2610797589 | COL17A1 | c.1939+59_1939+90del (n.1939+59_1939+90del)
| gnomAD v4 |
10 | g.104052953_104052978del | CA2610797596 | COL17A1 | c.1939+60_1939+85del (n.1939+60_1939+85del)
| gnomAD v4 |
10 | g.104052972G>A | CA212417175 | COL17A1 | c.1939+59C>T (n.1939+59C>T)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104052972G= | CA1933402806 | COL17A1 | c.1939+59C= (n.1939+59C=)
| |
10 | g.104052972G>T | CA2574692546 | COL17A1 | c.1939+59C>A (n.1939+59C>A)
| gnomAD v4 |
10 | g.104052973A>T | CA2610797617 | COL17A1 | c.1939+58T>A (n.1939+58T>A)
| gnomAD v4 |
10 | g.104052974_104052976delinsCAG | CA1933402808 | COL17A1 | c.1939+55_1939+57delinsCTG (n.1939+55_1939+57delinsCTG)
| |
10 | g.104052975A>C | CA2610797619 | COL17A1 | c.1939+56T>G (n.1939+56T>G)
| gnomAD v4 |
10 | g.104052975A>G | CA2789321032 | COL17A1 | c.1939+56T>C (n.1939+56T>C)
| |
10 | g.104052975A>T | CA2610797620 | COL17A1 | c.1939+56T>A (n.1939+56T>A)
| gnomAD v4 |
10 | g.104052980_104052981del | CA595682859 | COL17A1 | c.1939+55_1939+56del (n.1939+55_1939+56del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104052976G>T | CA2610797622 | COL17A1 | c.1939+55C>A (n.1939+55C>A)
| gnomAD v4 |
10 | g.104052978G>A | CA212417179 | COL17A1 | c.1939+53C>T (n.1939+53C>T)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104052978G>C | CA2610797625 | COL17A1 | c.1939+53C>G (n.1939+53C>G)
| gnomAD v4 |
10 | g.104052978G= | CA1933402812 | COL17A1 | c.1939+53C= (n.1939+53C=)
| |
10 | g.104052979A>T | CA2722592241 | COL17A1 | c.1939+52T>A (n.1939+52T>A)
| dbSNP |
10 | g.104052980G>A | CA5678798 | COL17A1 | c.1939+51C>T (n.1939+51C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104052980G= | CA1933402817 | COL17A1 | c.1939+51C= (n.1939+51C=)
| |
10 | g.104052980G>T | CA2610797630 | COL17A1 | c.1939+51C>A (n.1939+51C>A)
| gnomAD v4 |
10 | g.104052983G>A | CA2574692547 | COL17A1 | c.1939+48C>T (n.1939+48C>T)
| gnomAD v4 |
10 | g.104052984G= | CA1933402820 | COL17A1 | c.1939+47C= (n.1939+47C=)
| |
10 | g.104052984G>T | CA5678799 | COL17A1 | c.1939+47C>A (n.1939+47C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104052989_104052999del | CA2610797633 | COL17A1 | c.1939+35_1939+45del (n.1939+35_1939+45del)
| gnomAD v4 |
10 | g.104052987G= | CA1933402822 | COL17A1 | c.1939+44C= (n.1939+44C=)
| |
10 | g.104052987G>T | CA932075603 | COL17A1 | c.1939+44C>A (n.1939+44C>A)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104052988C= | CA1933402824 | COL17A1 | c.1939+43G= (n.1939+43G=)
| |
10 | g.104052988C>G | CA932075606 | COL17A1 | c.1939+43G>C (n.1939+43G>C)
| dbSNP |
10 | g.104052989A= | CA1933402828 | COL17A1 | c.1939+42T= (n.1939+42T=)
| |
10 | g.104052989A>G | CA595682862 | COL17A1 | c.1939+42T>C (n.1939+42T>C)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.104052990C= | CA1933402831 | COL17A1 | c.1939+41G= (n.1939+41G=)
| |
10 | g.104052990C>T | CA5678800 | COL17A1 | c.1939+41G>A (n.1939+41G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104052993G>A | CA932075611 | COL17A1 | c.1939+38C>T (n.1939+38C>T)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104052993G>C | CA5678801 | COL17A1 | c.1939+38C>G (n.1939+38C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104052993G= | CA1933402834 | COL17A1 | c.1939+38C= (n.1939+38C=)
| |
10 | g.104052994C>T | CA2574692548 | COL17A1 | c.1939+37G>A (n.1939+37G>A)
| |
10 | g.104052995A>C | CA2562326634 | COL17A1 | c.1939+36T>G (n.1939+36T>G)
| |
10 | g.104052995A>G | CA2610797635 | COL17A1 | c.1939+36T>C (n.1939+36T>C)
| gnomAD v4 |
10 | g.104052996T>A | CA2610797636 | COL17A1 | c.1939+35A>T (n.1939+35A>T)
| gnomAD v4 |
10 | g.104052996T>C | CA659192136 | COL17A1 | c.1939+35A>G (n.1939+35A>G)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104052996T= | CA1933402836 | COL17A1 | c.1939+35A= (n.1939+35A=)
| |
10 | g.104052997dup | CA2838431947 | COL17A1 | c.1939+34dup (n.1939+34dup)
| |
10 | g.104053000T>C | CA2574692549 | COL17A1 | c.1939+31A>G (n.1939+31A>G)
| gnomAD v4 |
10 | g.104053001A>G | CA2574692550 | COL17A1 | c.1939+30T>C (n.1939+30T>C)
| |
10 | g.104053005_104053006del | CA2610797638 | COL17A1 | c.1939+27_1939+28del (n.1939+27_1939+28del)
| gnomAD v4 |
10 | g.104053006T>C | CA5678802 | COL17A1 | c.1939+25A>G (n.1939+25A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053006T= | CA1933402838 | COL17A1 | c.1939+25A= (n.1939+25A=)
| |
10 | g.104053007G>A | CA2610797640 | COL17A1 | c.1939+24C>T (n.1939+24C>T)
| gnomAD v4 |
10 | g.104053008C>A | CA653698041 | COL17A1 | c.1939+23G>T (n.1939+23G>T)
| COSMIC |
10 | g.104053008C= | CA1933402839 | COL17A1 | c.1939+23G= (n.1939+23G=)
| |
10 | g.104053008C>G | CA595682867 | COL17A1 | c.1939+23G>C (n.1939+23G>C)
| dbSNP gnomAD v2 |
10 | g.104053008C>T | CA932075616 | COL17A1 | c.1939+23G>A (n.1939+23G>A)
| gnomAD v3 gnomAD v4 |
10 | g.104053009del | CA2610797641 | COL17A1 | c.1939+23del (n.1939+23del)
| gnomAD v4 |
10 | g.104053009C>A | CA932075621 | COL17A1 | c.1939+22G>T (n.1939+22G>T)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104053009C= | CA1933402842 | COL17A1 | c.1939+22G= (n.1939+22G=)
| |
10 | g.104053009C>T | CA5678803 | COL17A1 | c.1939+22G>A (n.1939+22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053010G>A | CA5678804 | COL17A1 | c.1939+21C>T (n.1939+21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053010G>C | CA5678805 | COL17A1 | c.1939+21C>G (n.1939+21C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053010G= | CA1933402844 | COL17A1 | c.1939+21C= (n.1939+21C=)
| |
10 | g.104053013G>A | CA595682872 | COL17A1 | c.1939+18C>T (n.1939+18C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053013G= | CA1933402847 | COL17A1 | c.1939+18C= (n.1939+18C=)
| |
10 | g.104053014A>G | CA2610797644 | COL17A1 | c.1939+17T>C (n.1939+17T>C)
| gnomAD v4 |
10 | g.104053017G>T | CA2610797645 | COL17A1 | c.1939+14C>A (n.1939+14C>A)
| gnomAD v4 |
10 | g.104053019A= | CA1933402850 | COL17A1 | c.1939+12T= (n.1939+12T=)
| |
10 | g.104053019A>C | CA1933402851 | COL17A1 | c.1939+12T>G (n.1939+12T>G)
| dbSNP |
10 | g.104053020T>C | CA595683044 | COL17A1 | c.1939+11A>G (n.1939+11A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053020T= | CA1933402852 | COL17A1 | c.1939+11A= (n.1939+11A=)
| |
10 | g.104053023C= | CA1933402856 | COL17A1 | c.1939+8G= (n.1939+8G=)
| |
10 | g.104053023C>T | CA5678806 | COL17A1 | c.1939+8G>A (n.1939+8G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053024C= | CA1933402858 | COL17A1 | c.1939+7G= (n.1939+7G=)
| |
10 | g.104053024C>T | CA212417229 | COL17A1 | c.1939+7G>A (n.1939+7G>A)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104053027T>G | CA5678807 | COL17A1 | c.1939+4A>C (n.1939+4A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104053027T= | CA1933402861 | COL17A1 | c.1939+4A= (n.1939+4A=)
| |
10 | g.104053029A>C | CA378069979 | COL17A1 | c.1939+2T>G (n.1939+2T>G)
| |
10 | g.104053029A>G | CA378069980 | COL17A1 | c.1939+2T>C (n.1939+2T>C)
| |
10 | g.104053029A>T | CA378069981 | COL17A1 | c.1939+2T>A (n.1939+2T>A)
| |
10 | g.104053030C>A | CA378069982 | COL17A1 | c.1939+1G>T (n.1939+1G>T)
| dbSNP gnomAD v4 |
10 | g.104053030C= | CA1933402868 | COL17A1 | c.1939+1G= (n.1939+1G=)
| |
10 | g.104053030C>G | CA5678808 | COL17A1 | c.1939+1G>C (n.1939+1G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053030C>T | CA5678809 | COL17A1 | c.1939+1G>A (n.1939+1G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053031C>A | CA378069983 | COL17A1 | c.1939G>T (p.Gly647Trp)
| |
10 | g.104053031C>G | CA378069984 | COL17A1 | c.1939G>C (p.Gly647Arg)
| |
10 | g.104053031C>T | CA378069985 | COL17A1 | c.1939G>A (p.Gly647Arg)
| |
10 | g.104053032T>A | CA378069986 | COL17A1 | c.1938A>T (p.Arg646Ser)
| |
10 | g.104053032T>C | CA471337241 | COL17A1 | c.1938A>G (p.Arg646=)
| |
10 | g.104053032T>G | CA378069987 | COL17A1 | c.1938A>C (p.Arg646Ser)
| |
10 | g.104053033C>A | CA378069990 | COL17A1 | c.1937G>T (p.Arg646Ile)
| |
10 | g.104053033C>G | CA378069989 | COL17A1 | c.1937G>C (p.Arg646Thr)
| |
10 | g.104053033C>T | CA378069988 | COL17A1 | c.1937G>A (p.Arg646Lys)
| |
10 | g.104053034T>A | CA378069991 | COL17A1 | c.1936A>T (p.Arg646Ter)
| |
10 | g.104053034T>C | CA212417280 | COL17A1 | c.1936A>G (p.Arg646Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053034T>G | CA471337248 | COL17A1 | c.1936A>C (p.Arg646=)
| |
10 | g.104053034T= | CA1933402873 | COL17A1 | c.1936A= (p.Arg646=)
| |
10 | g.104053035T>A | CA5678810 | COL17A1 | c.1935A>T (p.Glu645Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104053035T>C | CA471337249 | COL17A1 | c.1935A>G (p.Glu645=)
| |
10 | g.104053035T>G | CA378069992 | COL17A1 | c.1935A>C (p.Glu645Asp)
| |
10 | g.104053035T= | CA1933402876 | COL17A1 | c.1935A= (p.Glu645=)
| |
10 | g.104053036T>A | CA378069993 | COL17A1 | c.1934A>T (p.Glu645Val)
| |
10 | g.104053036T>C | CA378069994 | COL17A1 | c.1934A>G (p.Glu645Gly)
| |
10 | g.104053036T>G | CA378069995 | COL17A1 | c.1934A>C (p.Glu645Ala)
| |
10 | g.104053037C>A | CA378069996 | COL17A1 | c.1933G>T (p.Glu645Ter)
| |
10 | g.104053037C>G | CA378069997 | COL17A1 | c.1933G>C (p.Glu645Gln)
| |
10 | g.104053037C>T | CA378069998 | COL17A1 | c.1933G>A (p.Glu645Lys)
| |
10 | g.104053038C>A | CA471337254 | COL17A1 | c.1932G>T (p.Gly644=)
| |
10 | g.104053038C= | CA1933402879 | COL17A1 | c.1932G= (p.Gly644=)
| |
10 | g.104053038C>G | CA471337255 | COL17A1 | c.1932G>C (p.Gly644=)
| |
10 | g.104053038C>T | CA5678811 | COL17A1 | c.1932G>A (p.Gly644=)
| dbSNP ExAC gnomAD v2 |
10 | g.104053039C>A | CA378070001 | COL17A1 | c.1931G>T (p.Gly644Val)
| |
10 | g.104053039C>G | CA378070000 | COL17A1 | c.1931G>C (p.Gly644Ala)
| |
10 | g.104053039C>T | CA378069999 | COL17A1 | c.1931G>A (p.Gly644Glu)
| |
10 | g.104053040C>A | CA378070002 | COL17A1 | c.1930G>T (p.Gly644Trp)
| |
10 | g.104053040C>G | CA378070003 | COL17A1 | c.1930G>C (p.Gly644Arg)
| |
10 | g.104053040C>T | CA378070004 | COL17A1 | c.1930G>A (p.Gly644Arg)
| |
10 | g.104053041T>A | CA378070005 | COL17A1 | c.1929A>T (p.Lys643Asn)
| |
10 | g.104053041T>C | CA471337263 | COL17A1 | c.1929A>G (p.Lys643=)
| gnomAD v4 |
10 | g.104053041T>G | CA378070006 | COL17A1 | c.1929A>C (p.Lys643Asn)
| |
10 | g.104053042T>A | CA378070007 | COL17A1 | c.1928A>T (p.Lys643Ile)
| |
10 | g.104053042T>C | CA378070008 | COL17A1 | c.1928A>G (p.Lys643Arg)
| |
10 | g.104053042T>G | CA378070009 | COL17A1 | c.1928A>C (p.Lys643Thr)
| |
10 | g.104053043T>A | CA378070010 | COL17A1 | c.1927A>T (p.Lys643Ter)
| |
10 | g.104053043T>C | CA378070011 | COL17A1 | c.1927A>G (p.Lys643Glu)
| |
10 | g.104053043T>G | CA378070012 | COL17A1 | c.1927A>C (p.Lys643Gln)
| |
10 | g.104053044C>A | CA378070013 | COL17A1 | c.1926G>T (p.Glu642Asp)
| |
10 | g.104053044C>G | CA378070014 | COL17A1 | c.1926G>C (p.Glu642Asp)
| |
10 | g.104053044C>T | CA471337270 | COL17A1 | c.1926G>A (p.Glu642=)
| |
10 | g.104053045T>A | CA378070016 | COL17A1 | c.1925A>T (p.Glu642Val)
| |
10 | g.104053045T>C | CA378070017 | COL17A1 | c.1925A>G (p.Glu642Gly)
| dbSNP |
10 | g.104053045T>G | CA378070015 | COL17A1 | c.1925A>C (p.Glu642Ala)
| gnomAD v4 |
10 | g.104053046C>A | CA378070020 | COL17A1 | c.1924G>T (p.Glu642Ter)
| gnomAD v4 |
10 | g.104053046C= | CA1933402882 | COL17A1 | c.1924G= (p.Glu642=)
| |
10 | g.104053046C>G | CA378070018 | COL17A1 | c.1924G>C (p.Glu642Gln)
| |
10 | g.104053046C>T | CA378070019 | COL17A1 | c.1924G>A (p.Glu642Lys)
| dbSNP gnomAD v2 gnomAD v4 |
10 | g.104053047T>A | CA471337274 | COL17A1 | c.1923A>T (p.Gly641=)
| |
10 | g.104053047T>C | CA471337277 | COL17A1 | c.1923A>G (p.Gly641=)
| |
10 | g.104053047T>G | CA471337276 | COL17A1 | c.1923A>C (p.Gly641=)
| |
10 | g.104053048C>A | CA378070021 | COL17A1 | c.1922G>T (p.Gly641Val)
| |
10 | g.104053048C= | CA1933402886 | COL17A1 | c.1922G= (p.Gly641=)
| |
10 | g.104053048C>G | CA378070022 | COL17A1 | c.1922G>C (p.Gly641Ala)
| dbSNP |
10 | g.104053048C>T | CA378070023 | COL17A1 | c.1922G>A (p.Gly641Glu)
| dbSNP |
10 | g.104053049dup | CA2839649461 | COL17A1 | c.1922dup (p.Glu642ArgfsTer10)
| |
10 | g.104053049C>A | CA378070024 | COL17A1 | c.1921G>T (p.Gly641Ter)
| |
10 | g.104053049C>G | CA378070025 | COL17A1 | c.1921G>C (p.Gly641Arg)
| |
10 | g.104053049C>T | CA378070026 | COL17A1 | c.1921G>A (p.Gly641Arg)
| |
10 | g.104053050A= | CA1933402890 | COL17A1 | c.1920T= (p.Ser640=)
| |
10 | g.104053050A>C | CA471337280 | COL17A1 | c.1920T>G (p.Ser640=)
| |
10 | g.104053050A>G | CA5678812 | COL17A1 | c.1920T>C (p.Ser640=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104053050A>T | CA471337282 | COL17A1 | c.1920T>A (p.Ser640=)
| |
10 | g.104053051G>A | CA378070027 | COL17A1 | c.1919C>T (p.Ser640Phe)
| |
10 | g.104053051G>C | CA378070028 | COL17A1 | c.1919C>G (p.Ser640Cys)
| |
10 | g.104053051G= | CA1933402894 | COL17A1 | c.1919C= (p.Ser640=)
| |
10 | g.104053051G>T | CA378070029 | COL17A1 | c.1919C>A (p.Ser640Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104053052A>C | CA378070031 | COL17A1 | c.1918T>G (p.Ser640Ala)
| |
10 | g.104053052A>G | CA378070032 | COL17A1 | c.1918T>C (p.Ser640Pro)
| |
10 | g.104053052A>T | CA378070030 | COL17A1 | c.1918T>A (p.Ser640Thr)
| |
10 | g.104053053T>A | CA471337287 | COL17A1 | c.1917A>T (p.Gly639=)
| |
10 | g.104053053T>C | CA471337288 | COL17A1 | c.1917A>G (p.Gly639=)
| |
10 | g.104053053T>G | CA471337289 | COL17A1 | c.1917A>C (p.Gly639=)
| |
10 | g.104053054C>A | CA378070033 | COL17A1 | c.1916G>T (p.Gly639Val)
| |
10 | g.104053054C= | CA1933402898 | COL17A1 | c.1916G= (p.Gly639=)
| |
10 | g.104053054C>G | CA212417301 | COL17A1 | c.1916G>C (p.Gly639Ala)
| dbSNP gnomAD v4 |
10 | g.104053054C>T | CA378070034 | COL17A1 | c.1916G>A (p.Gly639Glu)
| gnomAD v4 |
10 | g.104053055C>A | CA378070035 | COL17A1 | c.1915G>T (p.Gly639Ter)
| |
10 | g.104053055C>G | CA378070036 | COL17A1 | c.1915G>C (p.Gly639Arg)
| |
10 | g.104053055C>T | CA378070037 | COL17A1 | c.1915G>A (p.Gly639Arg)
| |
10 | g.104053056A>C | CA471337295 | COL17A1 | c.1914T>G (p.Pro638=)
| |
10 | g.104053056A>G | CA471337297 | COL17A1 | c.1914T>C (p.Pro638=)
| |
10 | g.104053056A>T | CA471337298 | COL17A1 | c.1914T>A (p.Pro638=)
| |
10 | g.104053057G>A | CA378070038 | COL17A1 | c.1913C>T (p.Pro638Leu)
| |
10 | g.104053057G>C | CA378070040 | COL17A1 | c.1913C>G (p.Pro638Arg)
| |
10 | g.104053057G>T | CA378070039 | COL17A1 | c.1913C>A (p.Pro638His)
| |
10 | g.104053058G>A | CA378070041 | COL17A1 | c.1912C>T (p.Pro638Ser)
| gnomAD v4 |
10 | g.104053058G>C | CA378070042 | COL17A1 | c.1912C>G (p.Pro638Ala)
| |
10 | g.104053058G= | CA1933402903 | COL17A1 | c.1912C= (p.Pro638=)
| |
10 | g.104053058G>T | CA378070043 | COL17A1 | c.1912C>A (p.Pro638Thr)
| dbSNP gnomAD v3 gnomAD v4 |
10 | g.104053059A= | CA1933402908 | COL17A1 | c.1911T= (p.Pro637=)
| |
10 | g.104053059A>C | CA471337299 | COL17A1 | c.1911T>G (p.Pro637=)
| |
10 | g.104053059A>G | CA471337300 | COL17A1 | c.1911T>C (p.Pro637=)
| |
10 | g.104053059A>T | CA5678813 | COL17A1 | c.1911T>A (p.Pro637=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053060G>A | CA378070044 | COL17A1 | c.1910C>T (p.Pro637Leu)
| |
10 | g.104053060G>C | CA5678814 | COL17A1 | c.1910C>G (p.Pro637Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104053060G= | CA1933402918 | COL17A1 | c.1910C= (p.Pro637=)
| |
10 | g.104053060G>T | CA16605598 | COL17A1 | c.1910C>A (p.Pro637His)
| ClinVar dbSNP gnomAD v4 |
10 | g.104053061G>A | CA378070045 | COL17A1 | c.1909C>T (p.Pro637Ser)
| |
10 | g.104053061G>C | CA378070046 | COL17A1 | c.1909C>G (p.Pro637Ala)
| |
10 | g.104053061G>T | CA378070047 | COL17A1 | c.1909C>A (p.Pro637Thr)
| gnomAD v4 |
10 | g.104053062C>A | CA471337304 | COL17A1 | c.1908G>T (p.Gly636=)
| |
10 | g.104053062C>G | CA471337305 | COL17A1 | c.1908G>C (p.Gly636=)
| |
10 | g.104053062C>T | CA471337306 | COL17A1 | c.1908G>A (p.Gly636=)
| |
10 | g.104053064del | CA2610797653 | COL17A1 | c.1908del (p.Pro637LeufsTer?)
| gnomAD v4 |
10 | g.104053063C>A | CA378070048 | COL17A1 | c.1907G>T (p.Gly636Val)
| |
10 | g.104053063C>G | CA378070049 | COL17A1 | c.1907G>C (p.Gly636Ala)
| |
10 | g.104053063C>T | CA378070050 | COL17A1 | c.1907G>A (p.Gly636Glu)
| |
10 | g.104053064C>A | CA378070051 | COL17A1 | c.1906G>T (p.Gly636Trp)
| |
10 | g.104053064C= | CA1933402926 | COL17A1 | c.1906G= (p.Gly636=)
| |
10 | g.104053064C>G | CA5678815 | COL17A1 | c.1906G>C (p.Gly636Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104053064C>T | CA16605963 | COL17A1 | c.1906G>A (p.Gly636Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.104053065T>A | CA471337307 | COL17A1 | c.1905A>T (p.Ala635=)
| |
10 | g.104053065T>C | CA471337308 | COL17A1 | c.1905A>G (p.Ala635=)
| |
10 | g.104053065T>G | CA471337309 | COL17A1 | c.1905A>C (p.Ala635=)
| |
10 | g.104053066G>A | CA378070052 | COL17A1 | c.1904C>T (p.Ala635Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104053066G>C | CA378070053 | COL17A1 | c.1904C>G (p.Ala635Gly)
| |
10 | g.104053066G= | CA1933402929 | COL17A1 | c.1904C= (p.Ala635=)
| |
10 | g.104053066G>T | CA378070054 | COL17A1 | c.1904C>A (p.Ala635Glu)
| |
10 | g.104053067C>A | CA5678816 | COL17A1 | c.1903G>T (p.Ala635Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104053067C= | CA1933402932 | COL17A1 | c.1903G= (p.Ala635=)
| |
10 | g.104053067C>G | CA378070056 | COL17A1 | c.1903G>C (p.Ala635Pro)
| dbSNP |
10 | g.104053067C>T | CA378070055 | COL17A1 | c.1903G>A (p.Ala635Thr)
| dbSNP COSMIC |
10 | g.104053068C>A | CA378070057 | COL17A1 | c.1902G>T (p.Glu634Asp)
| |
10 | g.104053068C= | CA1933402936 | COL17A1 | c.1902G= (p.Glu634=)
| |
10 | g.104053068C>G | CA378070058 | COL17A1 | c.1902G>C (p.Glu634Asp)
| dbSNP gnomAD v4 |
10 | g.104053068C>T | CA471337310 | COL17A1 | c.1902G>A (p.Glu634=)
| |
10 | g.104053069T>A | CA378070059 | COL17A1 | c.1901A>T (p.Glu634Val)
| gnomAD v4 |
10 | g.104053069T>C | CA378070060 | COL17A1 | c.1901A>G (p.Glu634Gly)
| |
10 | g.104053069T>G | CA378070061 | COL17A1 | c.1901A>C (p.Glu634Ala)
| |
10 | g.104053070C>A | CA378070063 | COL17A1 | c.1900G>T (p.Glu634Ter)
| |
10 | g.104053070C= | CA1933402939 | COL17A1 | c.1900G= (p.Glu634=)
| |
10 | g.104053070C>G | CA378070062 | COL17A1 | c.1900G>C (p.Glu634Gln)
| |
10 | g.104053070C>T | CA5678817 | COL17A1 | c.1900G>A (p.Glu634Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.104053071A>C | CA471337314 | COL17A1 | c.1899T>G (p.Gly633=)
| |
10 | g.104053071A>G | CA471337315 | COL17A1 | c.1899T>C (p.Gly633=)
| |
10 | g.104053071A>T | CA471337316 | COL17A1 | c.1899T>A (p.Gly633=)
| |
10 | g.104053072C>A | CA378070064 | COL17A1 | c.1898G>T (p.Gly633Val)
| |
10 | g.104053072C= | CA1933402949 | COL17A1 | c.1898G= (p.Gly633=)
| |
10 | g.104053072C>G | CA378070065 | COL17A1 | c.1898G>C (p.Gly633Ala)
| |
10 | g.104053072C>T | CA258054 | COL17A1 | c.1898G>A (p.Gly633Asp)
| ClinVar dbSNP |