NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)
|
rs121912771
|
0.00015
|
NM_001174089.2(SLC4A11):c.2192+1G>A
|
rs759540763
|
0.00005
|
NM_000358.3(TGFBI):c.1406G>A (p.Arg469His)
|
rs376761086
|
0.00002
|
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)
|
rs758657734
|
0.00002
|
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)
|
rs121909391
|
0.00001
|
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)
|
rs371811409
|
0.00001
|
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)
|
rs756036451
|
0.00001
|
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)
|
|
|
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)
|
rs121909212
|
|
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)
|
|
|
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)
|
rs2126915354
|
|
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr)
|
rs1751703312
|
|
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val)
|
rs2126917684
|
|
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His)
|
rs2126917690
|
|
NM_000494.4(COL17A1):c.2897-2A>C
|
|
|
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer)
|
rs1600404795
|
|
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
|
|
|
NM_001174089.2(SLC4A11):c.2018+1G>A
|
rs2067654837
|
|
NM_001174089.2(SLC4A11):c.2450C>T (p.Thr817Met)
|
|
|
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
|
|
|
NM_001174096.2(ZEB1):c.504del (p.Gln169fs)
|
rs2069829602
|
|
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter)
|
rs2139506946
|
|
NM_001174096.2(ZEB1):c.688-1G>A
|
rs2139622959
|
|
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
|
|
|
NM_001174096.2(ZEB1):c.831del (p.Ser279fs)
|
|
|
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)
|
rs780579562
|
|
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)
|
rs1195336213
|
|
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)
|
rs2125298689
|
|
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln)
|
rs999246452
|
|
NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)
|
|
|
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)
|
rs2151665554
|
|
NM_024915.4(GRHL2):c.20+133del
|
rs1554579819
|
|
NM_024915.4(GRHL2):c.20+257del
|
rs1554579832
|
|
NM_024915.4(GRHL2):c.20+544G>T
|
rs1554579878
|
|
NM_057088.3(KRT3):c.1492G>A (p.Glu498Lys)
|
rs2121217835
|
|
NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)
|
|
|
NM_198252.3(GSN):c.-9-1987dup
|
|
|
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)
|
rs121909715
|
|