NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)
|
rs5926304
|
0.67668
|
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)
|
rs12014412
|
0.03486
|
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)
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rs144982584
|
0.00181
|
NM_173495.3(PTCHD1):c.1311T>C (p.His437=)
|
rs150186077
|
0.00099
|
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=)
|
rs138702144
|
0.00062
|
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)
|
rs138676073
|
0.00048
|
NM_173495.3(PTCHD1):c.1473C>T (p.Tyr491=)
|
rs138439272
|
0.00046
|
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=)
|
rs146777271
|
0.00046
|
NM_173495.3(PTCHD1):c.1012+5T>C
|
rs201933353
|
0.00035
|
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)
|
rs147324438
|
0.00027
|
NM_173495.3(PTCHD1):c.2508T>A (p.Phe836Leu)
|
rs139453757
|
0.00025
|
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu)
|
rs369968343
|
0.00011
|
NM_173495.3(PTCHD1):c.203A>G (p.Asn68Ser)
|
rs376309663
|
0.00010
|
NM_173495.3(PTCHD1):c.217C>T (p.Leu73Phe)
|
rs373105249
|
0.00005
|
NM_173495.3(PTCHD1):c.163C>T (p.Leu55=)
|
rs372019597
|
0.00002
|
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile)
|
rs150912089
|
0.00002
|
NM_173495.3(PTCHD1):c.714A>T (p.Arg238Ser)
|
rs765424375
|
0.00002
|
NM_173495.3(PTCHD1):c.836T>C (p.Val279Ala)
|
rs969176888
|
0.00002
|
NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe)
|
rs763356514
|
0.00001
|
NM_173495.3(PTCHD1):c.1416C>T (p.Gly472=)
|
rs752690653
|
0.00001
|
NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)
|
rs762133513
|
0.00001
|
NM_173495.3(PTCHD1):c.1021T>C (p.Leu341=)
|
rs1569142951
|
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NM_173495.3(PTCHD1):c.117C>T (p.Leu39=)
|
|
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NM_173495.3(PTCHD1):c.1308G>A (p.Gln436=)
|
|
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NM_173495.3(PTCHD1):c.1315A>G (p.Ile439Val)
|
|
|
NM_173495.3(PTCHD1):c.1364C>T (p.Ala455Val)
|
|
|
NM_173495.3(PTCHD1):c.1417G>A (p.Glu473Lys)
|
|
|
NM_173495.3(PTCHD1):c.1425G>A (p.Ala475=)
|
|
|
NM_173495.3(PTCHD1):c.1432T>C (p.Tyr478His)
|
|
|
NM_173495.3(PTCHD1):c.143T>C (p.Val48Ala)
|
|
|
NM_173495.3(PTCHD1):c.1582C>T (p.Leu528Phe)
|
rs992351585
|
|
NM_173495.3(PTCHD1):c.1592T>C (p.Ile531Thr)
|
|
|
NM_173495.3(PTCHD1):c.1706C>G (p.Thr569Ser)
|
|
|
NM_173495.3(PTCHD1):c.1740G>A (p.Lys580=)
|
|
|
NM_173495.3(PTCHD1):c.1787G>A (p.Arg596Gln)
|
|
|
NM_173495.3(PTCHD1):c.1832A>G (p.Asp611Gly)
|
|
|
NM_173495.3(PTCHD1):c.1835_1839delinsGAA (p.Met612fs)
|
rs797044922
|
|
NM_173495.3(PTCHD1):c.1929G>A (p.Val643=)
|
|
|
NM_173495.3(PTCHD1):c.1987G>A (p.Asp663Asn)
|
|
|
NM_173495.3(PTCHD1):c.1987G>C (p.Asp663His)
|
|
|
NM_173495.3(PTCHD1):c.2038A>T (p.Ile680Phe)
|
|
|
NM_173495.3(PTCHD1):c.2173G>A (p.Val725Ile)
|
|
|
NM_173495.3(PTCHD1):c.226G>T (p.Val76Phe)
|
|
|
NM_173495.3(PTCHD1):c.230A>G (p.Asn77Ser)
|
|
|
NM_173495.3(PTCHD1):c.2436T>C (p.Leu812=)
|
|
|
NM_173495.3(PTCHD1):c.2502CTT[1] (p.Phe836del)
|
rs1922904922
|
|
NM_173495.3(PTCHD1):c.27C>T (p.Gly9=)
|
|
|
NM_173495.3(PTCHD1):c.358G>A (p.Ala120Thr)
|
|
|
NM_173495.3(PTCHD1):c.580G>A (p.Gly194Ser)
|
|
|
NM_173495.3(PTCHD1):c.590_603del (p.Val197fs)
|
rs1555912049
|
|
NM_173495.3(PTCHD1):c.604C>G (p.Arg202Gly)
|
|
|
NM_173495.3(PTCHD1):c.751C>T (p.Pro251Ser)
|
|
|
NM_173495.3(PTCHD1):c.753T>G (p.Pro251=)
|
rs1569140042
|
|
NM_173495.3(PTCHD1):c.78C>T (p.Val26=)
|
|
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NM_173495.3(PTCHD1):c.799G>A (p.Val267Ile)
|
|
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NM_173495.3(PTCHD1):c.79TTC[1] (p.Phe28del)
|
|
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NM_173495.3(PTCHD1):c.810T>C (p.Arg270=)
|
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NM_173495.3(PTCHD1):c.963del (p.Gly322fs)
|
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