NM_004628.5(XPC):c.749A>G (p.Asp250Gly)
|
rs201247727
|
0.00040
|
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)
|
rs374117852
|
0.00004
|
NM_004628.5(XPC):c.2033+1G>A
|
rs764480429
|
0.00002
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
NM_004628.5(XPC):c.779+1G>T
|
rs975121308
|
0.00001
|
NM_004628.5(XPC):c.103+1G>A
|
rs1423398589
|
|
NM_004628.5(XPC):c.103+2T>G
|
rs1553608616
|
|
NM_004628.5(XPC):c.104-2A>G
|
rs1696679400
|
|
NM_004628.5(XPC):c.1067_1077del (p.Asn356fs)
|
|
|
NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)
|
|
|
NM_004628.5(XPC):c.1143dup (p.Lys382fs)
|
rs1553605871
|
|
NM_004628.5(XPC):c.1266del (p.Arg423fs)
|
rs2125025992
|
|
NM_004628.5(XPC):c.1288dup (p.Tyr430fs)
|
|
|
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)
|
rs1553605813
|
|
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter)
|
rs1553605805
|
|
NM_004628.5(XPC):c.1306del (p.Ser436fs)
|
rs1253035928
|
|
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer)
|
rs1553605795
|
|
NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)
|
|
|
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)
|
rs754197041
|
|
NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)
|
|
|
NM_004628.5(XPC):c.1421dup (p.Arg475fs)
|
rs1553605761
|
|
NM_004628.5(XPC):c.147del (p.Val51fs)
|
rs1553607773
|
|
NM_004628.5(XPC):c.155C>G (p.Ser52Ter)
|
|
|
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)
|
rs746250060
|
|
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)
|
|
|
NM_004628.5(XPC):c.1686del (p.Thr563fs)
|
rs1553605655
|
|
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs)
|
rs752030576
|
|
NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs)
|
|
|
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
|
|
|
NM_004628.5(XPC):c.1769del (p.Met590fs)
|
|
|
NM_004628.5(XPC):c.1798dup (p.Ala600fs)
|
|
|
NM_004628.5(XPC):c.1872+1G>A
|
|
|
NM_004628.5(XPC):c.1872+1G>C
|
rs1559374923
|
|
NM_004628.5(XPC):c.1934del (p.Pro645fs)
|
rs1553605497
|
|
NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs)
|
|
|
NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)
|
|
|
NM_004628.5(XPC):c.1A>T (p.Met1Leu)
|
rs763678756
|
|
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter)
|
rs781023624
|
|
NM_004628.5(XPC):c.2034-2A>G
|
|
|
NM_004628.5(XPC):c.2047_2048del (p.Thr683fs)
|
|
|
NM_004628.5(XPC):c.2050_2051del (p.Leu684fs)
|
rs765641981
|
|
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)
|
rs1553605023
|
|
NM_004628.5(XPC):c.2115+1G>C
|
|
|
NM_004628.5(XPC):c.2116-1G>A
|
rs1553604620
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
NM_004628.5(XPC):c.2153del (p.Arg718fs)
|
|
|
NM_004628.5(XPC):c.2194dup (p.Leu732fs)
|
rs1309116467
|
|
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)
|
rs1559369237
|
|
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)
|
rs770308917
|
|
NM_004628.5(XPC):c.2251-2A>G
|
rs1553604570
|
|
NM_004628.5(XPC):c.2301del (p.Met767fs)
|
|
|
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)
|
rs1281090187
|
|
NM_004628.5(XPC):c.2331dup (p.Asn778fs)
|
rs1553604552
|
|
NM_004628.5(XPC):c.2336dup (p.His780fs)
|
rs1553604549
|
|
NM_004628.5(XPC):c.2421-2A>G
|
|
|
NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs)
|
|
|
NM_004628.5(XPC):c.2432_2435dup (p.Val813fs)
|
|
|
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)
|
|
|
NM_004628.5(XPC):c.2552dup (p.Ala852fs)
|
|
|
NM_004628.5(XPC):c.2605-2A>G
|
|
|
NM_004628.5(XPC):c.299+1G>A
|
rs1553607744
|
|
NM_004628.5(XPC):c.368del (p.Asn123fs)
|
rs1553607419
|
|
NM_004628.5(XPC):c.385dup (p.Ser129fs)
|
|
|
NM_004628.5(XPC):c.409dup (p.Glu137fs)
|
rs1208223013
|
|
NM_004628.5(XPC):c.470_471del (p.Leu157fs)
|
rs1574972784
|
|
NM_004628.5(XPC):c.514C>T (p.Gln172Ter)
|
|
|
NM_004628.5(XPC):c.515dup (p.Ala173fs)
|
rs1553607144
|
|
NM_004628.5(XPC):c.525_526del (p.Glu177fs)
|
|
|
NM_004628.5(XPC):c.537-1G>C
|
rs1326646197
|
|
NM_004628.5(XPC):c.55C>T (p.Gln19Ter)
|
rs1553608637
|
|
NM_004628.5(XPC):c.618_619del (p.His206fs)
|
rs1553606979
|
|
NM_004628.5(XPC):c.621+1G>A
|
|
|
NM_004628.5(XPC):c.622-2A>G
|
rs201940931
|
|
NM_004628.5(XPC):c.673_692dup (p.Ile232fs)
|
|
|
NM_004628.5(XPC):c.779+1G>A
|
rs975121308
|
|
NM_004628.5(XPC):c.780-2A>G
|
|
|
NM_004628.5(XPC):c.780-2A>T
|
rs1696314718
|
|
NM_004628.5(XPC):c.856A>T (p.Arg286Ter)
|
|
|
NM_004628.5(XPC):c.861dup (p.Ala288fs)
|
|
|
NM_004628.5(XPC):c.915dup (p.Leu306fs)
|
rs1553605973
|
|
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)
|
rs867461743
|
|
NM_004628.5(XPC):c.977C>G (p.Ser326Ter)
|
|
|
NM_004628.5(XPC):c.990+1G>A
|
|
|
NM_004628.5(XPC):c.991-2A>C
|
|
|
NM_004628.5(XPC):c.991-2A>G
|
rs1553605894
|
|
NM_004628.5(XPC):c.992del
|
|
|