NM_000349.3(STAR):c.815G>A (p.Arg272His)
|
rs540090187
|
0.00010
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)
|
rs751759820
|
0.00002
|
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter)
|
rs1029475010
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
|
|
|
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
|
|
|
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
|
|
|
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
|
|
|
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
|
|
|
NM_000349.3(STAR):c.203del (p.Tyr68fs)
|
|
|
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)
|
|
|
NM_000349.3(STAR):c.229del (p.Gln77fs)
|
|
|
NM_000349.3(STAR):c.271_272del (p.Ser91fs)
|
|
|
NM_000349.3(STAR):c.391_392insT (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.436G>T (p.Glu146Ter)
|
|
|
NM_000349.3(STAR):c.475A>T (p.Lys159Ter)
|
|
|
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)
|
|
|
NM_000349.3(STAR):c.503dup (p.His168fs)
|
|
|
NM_000349.3(STAR):c.611_612del (p.Thr204fs)
|
|
|
NM_000349.3(STAR):c.82_83insA (p.Val28fs)
|
|
|
NM_000349.3(STAR):c.97del (p.Gln33fs)
|
|
|
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
|
|
|
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
|
|
|
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
|
|
|
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter)
|
rs2040561421
|
|
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter)
|
rs2040495130
|
|
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
|
|
|
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
|
|
|
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
|
|
|
NM_000383.4(AIRE):c.61del (p.Ala21fs)
|
|
|
NM_000383.4(AIRE):c.685del (p.Glu229fs)
|
|
|
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
|
|
|
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
|
|
|
NM_000383.4(AIRE):c.868del (p.Gln290fs)
|
rs2146379725
|
|
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter)
|
rs2040534254
|
|
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)
|
|
|
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter)
|
rs1479660166
|
|
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)
|
|
|
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)
|
|
|
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)
|
|
|
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)
|
|
|
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)
|
|
|
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)
|
|
|
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
|
|
|
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)
|
|
|
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)
|
rs5290
|
|
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter)
|
rs1816949224
|
|
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)
|
|
|
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)
|
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
|
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.406-1G>A
|
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.77+1G>C
|
|
|
NM_004168.4(SDHA):c.1065-2A>G
|
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
NM_004168.4(SDHA):c.1432+2T>G
|
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.1664-16_1666del
|
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.63+1G>C
|
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|