NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu)
|
rs1270341616
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)
|
rs768420488
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NC_000001.10:g.17375249_17390927del15679
|
|
|
NC_000001.10:g.17376556_17396932del20377
|
|
|
NC_000011.9:g.(?_111957571)_(111966518_?)del
|
|
|
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
|
|
|
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
|
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.201-4429_287-934del
|
|
|
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr)
|
rs74315371
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
NM_003002.4(SDHD):c.278_280del (p.Tyr93del)
|
rs121908983
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs)
|
rs587776645
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)
|
rs80338847
|
|
NM_003002.4(SDHD):c.443del (p.Gly148fs)
|
rs587776646
|
|
NM_003002.4(SDHD):c.463del (p.Met155fs)
|
rs587776647
|
|
NM_003002.4(SDHD):c.52+2T>G
|
rs587776644
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
|
rs397514034
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs)
|
rs1374026152
|
|
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys)
|
rs1567651815
|
|
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val)
|
rs1203876038
|
|
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=)
|
rs1567650874
|
|
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr)
|
rs1567650859
|
|
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)
|
rs73810366
|
|
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)
|
rs1733941453
|
|
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)
|
rs1733899167
|
|
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)
|
rs587776626
|
|
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)
|
rs1733878065
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NP_003915.2:p.Ala260[(5_9)]
|
|
|